Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71679086_71679095delinsCCCAAGCCAG | CA1260156832 | DYSF | c.3328_3337delinsCCCAAGCCAG (p.Pro1110=) c.2545_2554delinsCCCAAGCCAG (p.Pro849=) c.2653_2662delinsCCCAAGCCAG (p.Pro885=) c.5797_5806delinsCCCAAGCCAG (p.Pro1933=) c.5914_5923delinsCCCAAGCCAG (p.Pro1972=) c.5800_5809delinsCCCAAGCCAG (p.Pro1934=) c.5863_5872delinsCCCAAGCCAG (p.Pro1955=) c.5911_5920delinsCCCAAGCCAG (p.Pro1971=) c.5893_5902delinsCCCAAGCCAG (p.Pro1965=) c.5821_5830delinsCCCAAGCCAG (p.Pro1941=) c.5848_5857delinsCCCAAGCCAG (p.Pro1950=) c.5851_5860delinsCCCAAGCCAG (p.Pro1951=) c.5890_5899delinsCCCAAGCCAG (p.Pro1964=) c.5860_5869delinsCCCAAGCCAG (p.Pro1954=) n.2682_2691delinsCCCAAGCCAG c.5755_5764delinsCCCAAGCCAG (p.Pro1919=) c.5818_5827delinsCCCAAGCCAG (p.Pro1940=) c.5758_5767delinsCCCAAGCCAG (p.Pro1920=) c.5956_5965delinsCCCAAGCCAG (p.Pro1986=) c.5953_5962delinsCCCAAGCCAG (p.Pro1985=) | |
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.71679092C>A | CA347226283 | DYSF | c.3334C>A (p.Pro1112Thr) c.2551C>A (p.Pro851Thr) c.2659C>A (p.Pro887Thr) c.5803C>A (p.Pro1935Thr) c.5920C>A (p.Pro1974Thr) c.5806C>A (p.Pro1936Thr) c.5869C>A (p.Pro1957Thr) c.5917C>A (p.Pro1973Thr) c.5899C>A (p.Pro1967Thr) c.5827C>A (p.Pro1943Thr) c.5854C>A (p.Pro1952Thr) c.5857C>A (p.Pro1953Thr) c.5896C>A (p.Pro1966Thr) c.5866C>A (p.Pro1956Thr) n.2688C>A c.5761C>A (p.Pro1921Thr) c.5824C>A (p.Pro1942Thr) c.5764C>A (p.Pro1922Thr) c.5962C>A (p.Pro1988Thr) c.5959C>A (p.Pro1987Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.71679092C= | CA1260156839 | DYSF | c.3334C= (p.Pro1112=) c.2551C= (p.Pro851=) c.2659C= (p.Pro887=) c.5803C= (p.Pro1935=) c.5920C= (p.Pro1974=) c.5806C= (p.Pro1936=) c.5869C= (p.Pro1957=) c.5917C= (p.Pro1973=) c.5899C= (p.Pro1967=) c.5827C= (p.Pro1943=) c.5854C= (p.Pro1952=) c.5857C= (p.Pro1953=) c.5896C= (p.Pro1966=) c.5866C= (p.Pro1956=) n.2688C= c.5761C= (p.Pro1921=) c.5824C= (p.Pro1942=) c.5764C= (p.Pro1922=) c.5962C= (p.Pro1988=) c.5959C= (p.Pro1987=) | |
2 | g.71679092C>G | CA347226284 | DYSF | c.3334C>G (p.Pro1112Ala) c.2551C>G (p.Pro851Ala) c.2659C>G (p.Pro887Ala) c.5803C>G (p.Pro1935Ala) c.5920C>G (p.Pro1974Ala) c.5806C>G (p.Pro1936Ala) c.5869C>G (p.Pro1957Ala) c.5917C>G (p.Pro1973Ala) c.5899C>G (p.Pro1967Ala) c.5827C>G (p.Pro1943Ala) c.5854C>G (p.Pro1952Ala) c.5857C>G (p.Pro1953Ala) c.5896C>G (p.Pro1966Ala) c.5866C>G (p.Pro1956Ala) n.2688C>G c.5761C>G (p.Pro1921Ala) c.5824C>G (p.Pro1942Ala) c.5764C>G (p.Pro1922Ala) c.5962C>G (p.Pro1988Ala) c.5959C>G (p.Pro1987Ala) | |
2 | g.71679092C>T | CA347226285 | DYSF | c.3334C>T (p.Pro1112Ser) c.2551C>T (p.Pro851Ser) c.2659C>T (p.Pro887Ser) c.5803C>T (p.Pro1935Ser) c.5920C>T (p.Pro1974Ser) c.5806C>T (p.Pro1936Ser) c.5869C>T (p.Pro1957Ser) c.5917C>T (p.Pro1973Ser) c.5899C>T (p.Pro1967Ser) c.5827C>T (p.Pro1943Ser) c.5854C>T (p.Pro1952Ser) c.5857C>T (p.Pro1953Ser) c.5896C>T (p.Pro1966Ser) c.5866C>T (p.Pro1956Ser) n.2688C>T c.5761C>T (p.Pro1921Ser) c.5824C>T (p.Pro1942Ser) c.5764C>T (p.Pro1922Ser) c.5962C>T (p.Pro1988Ser) c.5959C>T (p.Pro1987Ser) | gnomAD v4 |
2 | g.71679093C>A | CA347226286 | DYSF | c.3335C>A (p.Pro1112Gln) c.2552C>A (p.Pro851Gln) c.2660C>A (p.Pro887Gln) c.5804C>A (p.Pro1935Gln) c.5921C>A (p.Pro1974Gln) c.5807C>A (p.Pro1936Gln) c.5870C>A (p.Pro1957Gln) c.5918C>A (p.Pro1973Gln) c.5900C>A (p.Pro1967Gln) c.5828C>A (p.Pro1943Gln) c.5855C>A (p.Pro1952Gln) c.5858C>A (p.Pro1953Gln) c.5897C>A (p.Pro1966Gln) c.5867C>A (p.Pro1956Gln) n.2689C>A c.5762C>A (p.Pro1921Gln) c.5825C>A (p.Pro1942Gln) c.5765C>A (p.Pro1922Gln) c.5963C>A (p.Pro1988Gln) c.5960C>A (p.Pro1987Gln) | |
2 | g.71679093C= | CA1260156840 | DYSF | c.3335C= (p.Pro1112=) c.2552C= (p.Pro851=) c.2660C= (p.Pro887=) c.5804C= (p.Pro1935=) c.5921C= (p.Pro1974=) c.5807C= (p.Pro1936=) c.5870C= (p.Pro1957=) c.5918C= (p.Pro1973=) c.5900C= (p.Pro1967=) c.5828C= (p.Pro1943=) c.5855C= (p.Pro1952=) c.5858C= (p.Pro1953=) c.5897C= (p.Pro1966=) c.5867C= (p.Pro1956=) n.2689C= c.5762C= (p.Pro1921=) c.5825C= (p.Pro1942=) c.5765C= (p.Pro1922=) c.5963C= (p.Pro1988=) c.5960C= (p.Pro1987=) | |
2 | g.71679093C>G | CA347226287 | DYSF | c.3335C>G (p.Pro1112Arg) c.2552C>G (p.Pro851Arg) c.2660C>G (p.Pro887Arg) c.5804C>G (p.Pro1935Arg) c.5921C>G (p.Pro1974Arg) c.5807C>G (p.Pro1936Arg) c.5870C>G (p.Pro1957Arg) c.5918C>G (p.Pro1973Arg) c.5900C>G (p.Pro1967Arg) c.5828C>G (p.Pro1943Arg) c.5855C>G (p.Pro1952Arg) c.5858C>G (p.Pro1953Arg) c.5897C>G (p.Pro1966Arg) c.5867C>G (p.Pro1956Arg) n.2689C>G c.5762C>G (p.Pro1921Arg) c.5825C>G (p.Pro1942Arg) c.5765C>G (p.Pro1922Arg) c.5963C>G (p.Pro1988Arg) c.5960C>G (p.Pro1987Arg) | |
2 | g.71679093C>T | CA347226288 | DYSF | c.3335C>T (p.Pro1112Leu) c.2552C>T (p.Pro851Leu) c.2660C>T (p.Pro887Leu) c.5804C>T (p.Pro1935Leu) c.5921C>T (p.Pro1974Leu) c.5807C>T (p.Pro1936Leu) c.5870C>T (p.Pro1957Leu) c.5918C>T (p.Pro1973Leu) c.5900C>T (p.Pro1967Leu) c.5828C>T (p.Pro1943Leu) c.5855C>T (p.Pro1952Leu) c.5858C>T (p.Pro1953Leu) c.5897C>T (p.Pro1966Leu) c.5867C>T (p.Pro1956Leu) n.2689C>T c.5762C>T (p.Pro1921Leu) c.5825C>T (p.Pro1942Leu) c.5765C>T (p.Pro1922Leu) c.5963C>T (p.Pro1988Leu) c.5960C>T (p.Pro1987Leu) | ClinVar dbSNP |
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.71679094del | CA2586969544 | DYSF | c.3336del (p.Ala1113ProfsTer?) c.2553del (p.Ala852ProfsTer?) c.2661del (p.Ala888ProfsTer?) c.5805del (p.Ala1936ProfsTer?) c.5922del (p.Ala1975ProfsTer?) c.5808del (p.Ala1937ProfsTer?) c.5871del (p.Ala1958ProfsTer?) c.5919del (p.Ala1974ProfsTer?) c.5901del (p.Ala1968ProfsTer?) c.5829del (p.Ala1944ProfsTer?) c.5856del (p.Ala1953ProfsTer?) c.5859del (p.Ala1954ProfsTer?) c.5898del (p.Ala1967ProfsTer?) c.5868del (p.Ala1957ProfsTer?) n.2690del c.5763del (p.Ala1922ProfsTer?) c.5826del (p.Ala1943ProfsTer?) c.5766del (p.Ala1923ProfsTer?) c.5964del (p.Ala1989ProfsTer?) c.5961del (p.Ala1988ProfsTer?) | |
2 | g.71679094A= | CA1260156841 | DYSF | c.3336A= (p.Pro1112=) c.2553A= (p.Pro851=) c.2661A= (p.Pro887=) c.5805A= (p.Pro1935=) c.5922A= (p.Pro1974=) c.5808A= (p.Pro1936=) c.5871A= (p.Pro1957=) c.5919A= (p.Pro1973=) c.5901A= (p.Pro1967=) c.5829A= (p.Pro1943=) c.5856A= (p.Pro1952=) c.5859A= (p.Pro1953=) c.5898A= (p.Pro1966=) c.5868A= (p.Pro1956=) n.2690A= c.5763A= (p.Pro1921=) c.5826A= (p.Pro1942=) c.5766A= (p.Pro1922=) c.5964A= (p.Pro1988=) c.5961A= (p.Pro1987=) | |
2 | g.71679094A>C | CA426704688 | DYSF | c.3336A>C (p.Pro1112=) c.2553A>C (p.Pro851=) c.2661A>C (p.Pro887=) c.5805A>C (p.Pro1935=) c.5922A>C (p.Pro1974=) c.5808A>C (p.Pro1936=) c.5871A>C (p.Pro1957=) c.5919A>C (p.Pro1973=) c.5901A>C (p.Pro1967=) c.5829A>C (p.Pro1943=) c.5856A>C (p.Pro1952=) c.5859A>C (p.Pro1953=) c.5898A>C (p.Pro1966=) c.5868A>C (p.Pro1956=) n.2690A>C c.5763A>C (p.Pro1921=) c.5826A>C (p.Pro1942=) c.5766A>C (p.Pro1922=) c.5964A>C (p.Pro1988=) c.5961A>C (p.Pro1987=) | |
2 | g.71679094A>G | CA426704687 | DYSF | c.3336A>G (p.Pro1112=) c.2553A>G (p.Pro851=) c.2661A>G (p.Pro887=) c.5805A>G (p.Pro1935=) c.5922A>G (p.Pro1974=) c.5808A>G (p.Pro1936=) c.5871A>G (p.Pro1957=) c.5919A>G (p.Pro1973=) c.5901A>G (p.Pro1967=) c.5829A>G (p.Pro1943=) c.5856A>G (p.Pro1952=) c.5859A>G (p.Pro1953=) c.5898A>G (p.Pro1966=) c.5868A>G (p.Pro1956=) n.2690A>G c.5763A>G (p.Pro1921=) c.5826A>G (p.Pro1942=) c.5766A>G (p.Pro1922=) c.5964A>G (p.Pro1988=) c.5961A>G (p.Pro1987=) | |
2 | g.71679094A>T | CA426704686 | DYSF | c.3336A>T (p.Pro1112=) c.2553A>T (p.Pro851=) c.2661A>T (p.Pro887=) c.5805A>T (p.Pro1935=) c.5922A>T (p.Pro1974=) c.5808A>T (p.Pro1936=) c.5871A>T (p.Pro1957=) c.5919A>T (p.Pro1973=) c.5901A>T (p.Pro1967=) c.5829A>T (p.Pro1943=) c.5856A>T (p.Pro1952=) c.5859A>T (p.Pro1953=) c.5898A>T (p.Pro1966=) c.5868A>T (p.Pro1956=) n.2690A>T c.5763A>T (p.Pro1921=) c.5826A>T (p.Pro1942=) c.5766A>T (p.Pro1922=) c.5964A>T (p.Pro1988=) c.5961A>T (p.Pro1987=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679095G>A | CA347226289 | DYSF | c.3337G>A (p.Ala1113Thr) c.2554G>A (p.Ala852Thr) c.2662G>A (p.Ala888Thr) c.5806G>A (p.Ala1936Thr) c.5923G>A (p.Ala1975Thr) c.5809G>A (p.Ala1937Thr) c.5872G>A (p.Ala1958Thr) c.5920G>A (p.Ala1974Thr) c.5902G>A (p.Ala1968Thr) c.5830G>A (p.Ala1944Thr) c.5857G>A (p.Ala1953Thr) c.5860G>A (p.Ala1954Thr) c.5899G>A (p.Ala1967Thr) c.5869G>A (p.Ala1957Thr) n.2691G>A c.5764G>A (p.Ala1922Thr) c.5827G>A (p.Ala1943Thr) c.5767G>A (p.Ala1923Thr) c.5965G>A (p.Ala1989Thr) c.5962G>A (p.Ala1988Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.71679095G>C | CA347226290 | DYSF | c.3337G>C (p.Ala1113Pro) c.2554G>C (p.Ala852Pro) c.2662G>C (p.Ala888Pro) c.5806G>C (p.Ala1936Pro) c.5923G>C (p.Ala1975Pro) c.5809G>C (p.Ala1937Pro) c.5872G>C (p.Ala1958Pro) c.5920G>C (p.Ala1974Pro) c.5902G>C (p.Ala1968Pro) c.5830G>C (p.Ala1944Pro) c.5857G>C (p.Ala1953Pro) c.5860G>C (p.Ala1954Pro) c.5899G>C (p.Ala1967Pro) c.5869G>C (p.Ala1957Pro) n.2691G>C c.5764G>C (p.Ala1922Pro) c.5827G>C (p.Ala1943Pro) c.5767G>C (p.Ala1923Pro) c.5965G>C (p.Ala1989Pro) c.5962G>C (p.Ala1988Pro) | |
2 | g.71679095G= | CA1260156842 | DYSF | c.3337G= (p.Ala1113=) c.2554G= (p.Ala852=) c.2662G= (p.Ala888=) c.5806G= (p.Ala1936=) c.5923G= (p.Ala1975=) c.5809G= (p.Ala1937=) c.5872G= (p.Ala1958=) c.5920G= (p.Ala1974=) c.5902G= (p.Ala1968=) c.5830G= (p.Ala1944=) c.5857G= (p.Ala1953=) c.5860G= (p.Ala1954=) c.5899G= (p.Ala1967=) c.5869G= (p.Ala1957=) n.2691G= c.5764G= (p.Ala1922=) c.5827G= (p.Ala1943=) c.5767G= (p.Ala1923=) c.5965G= (p.Ala1989=) c.5962G= (p.Ala1988=) | |
2 | g.71679095G>T | CA347226291 | DYSF | c.3337G>T (p.Ala1113Ser) c.2554G>T (p.Ala852Ser) c.2662G>T (p.Ala888Ser) c.5806G>T (p.Ala1936Ser) c.5923G>T (p.Ala1975Ser) c.5809G>T (p.Ala1937Ser) c.5872G>T (p.Ala1958Ser) c.5920G>T (p.Ala1974Ser) c.5902G>T (p.Ala1968Ser) c.5830G>T (p.Ala1944Ser) c.5857G>T (p.Ala1953Ser) c.5860G>T (p.Ala1954Ser) c.5899G>T (p.Ala1967Ser) c.5869G>T (p.Ala1957Ser) n.2691G>T c.5764G>T (p.Ala1922Ser) c.5827G>T (p.Ala1943Ser) c.5767G>T (p.Ala1923Ser) c.5965G>T (p.Ala1989Ser) c.5962G>T (p.Ala1988Ser) | |
2 | g.71679096C>A | CA347226292 | DYSF | c.3338C>A (p.Ala1113Asp) c.2555C>A (p.Ala852Asp) c.2663C>A (p.Ala888Asp) c.5807C>A (p.Ala1936Asp) c.5924C>A (p.Ala1975Asp) c.5810C>A (p.Ala1937Asp) c.5873C>A (p.Ala1958Asp) c.5921C>A (p.Ala1974Asp) c.5903C>A (p.Ala1968Asp) c.5831C>A (p.Ala1944Asp) c.5858C>A (p.Ala1953Asp) c.5861C>A (p.Ala1954Asp) c.5900C>A (p.Ala1967Asp) c.5870C>A (p.Ala1957Asp) n.2692C>A c.5765C>A (p.Ala1922Asp) c.5828C>A (p.Ala1943Asp) c.5768C>A (p.Ala1923Asp) c.5966C>A (p.Ala1989Asp) c.5963C>A (p.Ala1988Asp) | |
2 | g.71679096C>G | CA347226293 | DYSF | c.3338C>G (p.Ala1113Gly) c.2555C>G (p.Ala852Gly) c.2663C>G (p.Ala888Gly) c.5807C>G (p.Ala1936Gly) c.5924C>G (p.Ala1975Gly) c.5810C>G (p.Ala1937Gly) c.5873C>G (p.Ala1958Gly) c.5921C>G (p.Ala1974Gly) c.5903C>G (p.Ala1968Gly) c.5831C>G (p.Ala1944Gly) c.5858C>G (p.Ala1953Gly) c.5861C>G (p.Ala1954Gly) c.5900C>G (p.Ala1967Gly) c.5870C>G (p.Ala1957Gly) n.2692C>G c.5765C>G (p.Ala1922Gly) c.5828C>G (p.Ala1943Gly) c.5768C>G (p.Ala1923Gly) c.5966C>G (p.Ala1989Gly) c.5963C>G (p.Ala1988Gly) | |
2 | g.71679096C>T | CA347226294 | DYSF | c.3338C>T (p.Ala1113Val) c.2555C>T (p.Ala852Val) c.2663C>T (p.Ala888Val) c.5807C>T (p.Ala1936Val) c.5924C>T (p.Ala1975Val) c.5810C>T (p.Ala1937Val) c.5873C>T (p.Ala1958Val) c.5921C>T (p.Ala1974Val) c.5903C>T (p.Ala1968Val) c.5831C>T (p.Ala1944Val) c.5858C>T (p.Ala1953Val) c.5861C>T (p.Ala1954Val) c.5900C>T (p.Ala1967Val) c.5870C>T (p.Ala1957Val) n.2692C>T c.5765C>T (p.Ala1922Val) c.5828C>T (p.Ala1943Val) c.5768C>T (p.Ala1923Val) c.5966C>T (p.Ala1989Val) c.5963C>T (p.Ala1988Val) | |
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) | |
2 | g.71679110A>T | CA347226323 | DYSF | c.3352A>T (p.Lys1118Ter) c.2569A>T (p.Lys857Ter) c.2677A>T (p.Lys893Ter) c.5821A>T (p.Lys1941Ter) c.5938A>T (p.Lys1980Ter) c.5824A>T (p.Lys1942Ter) c.5887A>T (p.Lys1963Ter) c.5935A>T (p.Lys1979Ter) c.5917A>T (p.Lys1973Ter) c.5845A>T (p.Lys1949Ter) c.5872A>T (p.Lys1958Ter) c.5875A>T (p.Lys1959Ter) c.5914A>T (p.Lys1972Ter) c.5884A>T (p.Lys1962Ter) n.2706A>T c.5779A>T (p.Lys1927Ter) c.5842A>T (p.Lys1948Ter) c.5782A>T (p.Lys1928Ter) c.5980A>T (p.Lys1994Ter) c.5977A>T (p.Lys1993Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.71679111A= | CA1260156849 | DYSF | c.3353A= (p.Lys1118=) c.2570A= (p.Lys857=) c.2678A= (p.Lys893=) c.5822A= (p.Lys1941=) c.5939A= (p.Lys1980=) c.5825A= (p.Lys1942=) c.5888A= (p.Lys1963=) c.5936A= (p.Lys1979=) c.5918A= (p.Lys1973=) c.5846A= (p.Lys1949=) c.5873A= (p.Lys1958=) c.5876A= (p.Lys1959=) c.5915A= (p.Lys1972=) c.5885A= (p.Lys1962=) n.2707A= c.5780A= (p.Lys1927=) c.5843A= (p.Lys1948=) c.5783A= (p.Lys1928=) c.5981A= (p.Lys1994=) c.5978A= (p.Lys1993=) | |
2 | g.71679111A>C | CA49774338 | DYSF | c.3353A>C (p.Lys1118Thr) c.2570A>C (p.Lys857Thr) c.2678A>C (p.Lys893Thr) c.5822A>C (p.Lys1941Thr) c.5939A>C (p.Lys1980Thr) c.5825A>C (p.Lys1942Thr) c.5888A>C (p.Lys1963Thr) c.5936A>C (p.Lys1979Thr) c.5918A>C (p.Lys1973Thr) c.5846A>C (p.Lys1949Thr) c.5873A>C (p.Lys1958Thr) c.5876A>C (p.Lys1959Thr) c.5915A>C (p.Lys1972Thr) c.5885A>C (p.Lys1962Thr) n.2707A>C c.5780A>C (p.Lys1927Thr) c.5843A>C (p.Lys1948Thr) c.5783A>C (p.Lys1928Thr) c.5981A>C (p.Lys1994Thr) c.5978A>C (p.Lys1993Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679111A>G | CA49774340 | DYSF | c.3353A>G (p.Lys1118Arg) c.2570A>G (p.Lys857Arg) c.2678A>G (p.Lys893Arg) c.5822A>G (p.Lys1941Arg) c.5939A>G (p.Lys1980Arg) c.5825A>G (p.Lys1942Arg) c.5888A>G (p.Lys1963Arg) c.5936A>G (p.Lys1979Arg) c.5918A>G (p.Lys1973Arg) c.5846A>G (p.Lys1949Arg) c.5873A>G (p.Lys1958Arg) c.5876A>G (p.Lys1959Arg) c.5915A>G (p.Lys1972Arg) c.5885A>G (p.Lys1962Arg) n.2707A>G c.5780A>G (p.Lys1927Arg) c.5843A>G (p.Lys1948Arg) c.5783A>G (p.Lys1928Arg) c.5981A>G (p.Lys1994Arg) c.5978A>G (p.Lys1993Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71679111A>T | CA1707554 | DYSF | c.3353A>T (p.Lys1118Met) c.2570A>T (p.Lys857Met) c.2678A>T (p.Lys893Met) c.5822A>T (p.Lys1941Met) c.5939A>T (p.Lys1980Met) c.5825A>T (p.Lys1942Met) c.5888A>T (p.Lys1963Met) c.5936A>T (p.Lys1979Met) c.5918A>T (p.Lys1973Met) c.5846A>T (p.Lys1949Met) c.5873A>T (p.Lys1958Met) c.5876A>T (p.Lys1959Met) c.5915A>T (p.Lys1972Met) c.5885A>T (p.Lys1962Met) n.2707A>T c.5780A>T (p.Lys1927Met) c.5843A>T (p.Lys1948Met) c.5783A>T (p.Lys1928Met) c.5981A>T (p.Lys1994Met) c.5978A>T (p.Lys1993Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679112G>A | CA426704700 | DYSF | c.3354G>A (p.Lys1118=) c.2571G>A (p.Lys857=) c.2679G>A (p.Lys893=) c.5823G>A (p.Lys1941=) c.5940G>A (p.Lys1980=) c.5826G>A (p.Lys1942=) c.5889G>A (p.Lys1963=) c.5937G>A (p.Lys1979=) c.5919G>A (p.Lys1973=) c.5847G>A (p.Lys1949=) c.5874G>A (p.Lys1958=) c.5877G>A (p.Lys1959=) c.5916G>A (p.Lys1972=) c.5886G>A (p.Lys1962=) n.2708G>A c.5781G>A (p.Lys1927=) c.5844G>A (p.Lys1948=) c.5784G>A (p.Lys1928=) c.5982G>A (p.Lys1994=) c.5979G>A (p.Lys1993=) | gnomAD v4 |
2 | g.71679112G>C | CA347226325 | DYSF | c.3354G>C (p.Lys1118Asn) c.2571G>C (p.Lys857Asn) c.2679G>C (p.Lys893Asn) c.5823G>C (p.Lys1941Asn) c.5940G>C (p.Lys1980Asn) c.5826G>C (p.Lys1942Asn) c.5889G>C (p.Lys1963Asn) c.5937G>C (p.Lys1979Asn) c.5919G>C (p.Lys1973Asn) c.5847G>C (p.Lys1949Asn) c.5874G>C (p.Lys1958Asn) c.5877G>C (p.Lys1959Asn) c.5916G>C (p.Lys1972Asn) c.5886G>C (p.Lys1962Asn) n.2708G>C c.5781G>C (p.Lys1927Asn) c.5844G>C (p.Lys1948Asn) c.5784G>C (p.Lys1928Asn) c.5982G>C (p.Lys1994Asn) c.5979G>C (p.Lys1993Asn) | |
2 | g.71679112G>T | CA347226324 | DYSF | c.3354G>T (p.Lys1118Asn) c.2571G>T (p.Lys857Asn) c.2679G>T (p.Lys893Asn) c.5823G>T (p.Lys1941Asn) c.5940G>T (p.Lys1980Asn) c.5826G>T (p.Lys1942Asn) c.5889G>T (p.Lys1963Asn) c.5937G>T (p.Lys1979Asn) c.5919G>T (p.Lys1973Asn) c.5847G>T (p.Lys1949Asn) c.5874G>T (p.Lys1958Asn) c.5877G>T (p.Lys1959Asn) c.5916G>T (p.Lys1972Asn) c.5886G>T (p.Lys1962Asn) n.2708G>T c.5781G>T (p.Lys1927Asn) c.5844G>T (p.Lys1948Asn) c.5784G>T (p.Lys1928Asn) c.5982G>T (p.Lys1994Asn) c.5979G>T (p.Lys1993Asn) | |
2 | g.71679113T>A | CA347226326 | DYSF | c.3355T>A (p.Cys1119Ser) c.2572T>A (p.Cys858Ser) c.2680T>A (p.Cys894Ser) c.5824T>A (p.Cys1942Ser) c.5941T>A (p.Cys1981Ser) c.5827T>A (p.Cys1943Ser) c.5890T>A (p.Cys1964Ser) c.5938T>A (p.Cys1980Ser) c.5920T>A (p.Cys1974Ser) c.5848T>A (p.Cys1950Ser) c.5875T>A (p.Cys1959Ser) c.5878T>A (p.Cys1960Ser) c.5917T>A (p.Cys1973Ser) c.5887T>A (p.Cys1963Ser) n.2709T>A c.5782T>A (p.Cys1928Ser) c.5845T>A (p.Cys1949Ser) c.5785T>A (p.Cys1929Ser) c.5983T>A (p.Cys1995Ser) c.5980T>A (p.Cys1994Ser) | |
2 | g.71679113T>C | CA347226327 | DYSF | c.3355T>C (p.Cys1119Arg) c.2572T>C (p.Cys858Arg) c.2680T>C (p.Cys894Arg) c.5824T>C (p.Cys1942Arg) c.5941T>C (p.Cys1981Arg) c.5827T>C (p.Cys1943Arg) c.5890T>C (p.Cys1964Arg) c.5938T>C (p.Cys1980Arg) c.5920T>C (p.Cys1974Arg) c.5848T>C (p.Cys1950Arg) c.5875T>C (p.Cys1959Arg) c.5878T>C (p.Cys1960Arg) c.5917T>C (p.Cys1973Arg) c.5887T>C (p.Cys1963Arg) n.2709T>C c.5782T>C (p.Cys1928Arg) c.5845T>C (p.Cys1949Arg) c.5785T>C (p.Cys1929Arg) c.5983T>C (p.Cys1995Arg) c.5980T>C (p.Cys1994Arg) | |
2 | g.71679113T>G | CA347226328 | DYSF | c.3355T>G (p.Cys1119Gly) c.2572T>G (p.Cys858Gly) c.2680T>G (p.Cys894Gly) c.5824T>G (p.Cys1942Gly) c.5941T>G (p.Cys1981Gly) c.5827T>G (p.Cys1943Gly) c.5890T>G (p.Cys1964Gly) c.5938T>G (p.Cys1980Gly) c.5920T>G (p.Cys1974Gly) c.5848T>G (p.Cys1950Gly) c.5875T>G (p.Cys1959Gly) c.5878T>G (p.Cys1960Gly) c.5917T>G (p.Cys1973Gly) c.5887T>G (p.Cys1963Gly) n.2709T>G c.5782T>G (p.Cys1928Gly) c.5845T>G (p.Cys1949Gly) c.5785T>G (p.Cys1929Gly) c.5983T>G (p.Cys1995Gly) c.5980T>G (p.Cys1994Gly) | |
2 | g.71679114G>A | CA347226329 | DYSF | c.3356G>A (p.Cys1119Tyr) c.2573G>A (p.Cys858Tyr) c.2681G>A (p.Cys894Tyr) c.5825G>A (p.Cys1942Tyr) c.5942G>A (p.Cys1981Tyr) c.5828G>A (p.Cys1943Tyr) c.5891G>A (p.Cys1964Tyr) c.5939G>A (p.Cys1980Tyr) c.5921G>A (p.Cys1974Tyr) c.5849G>A (p.Cys1950Tyr) c.5876G>A (p.Cys1959Tyr) c.5879G>A (p.Cys1960Tyr) c.5918G>A (p.Cys1973Tyr) c.5888G>A (p.Cys1963Tyr) n.2710G>A c.5783G>A (p.Cys1928Tyr) c.5846G>A (p.Cys1949Tyr) c.5786G>A (p.Cys1929Tyr) c.5984G>A (p.Cys1995Tyr) c.5981G>A (p.Cys1994Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679114G>C | CA347226330 | DYSF | c.3356G>C (p.Cys1119Ser) c.2573G>C (p.Cys858Ser) c.2681G>C (p.Cys894Ser) c.5825G>C (p.Cys1942Ser) c.5942G>C (p.Cys1981Ser) c.5828G>C (p.Cys1943Ser) c.5891G>C (p.Cys1964Ser) c.5939G>C (p.Cys1980Ser) c.5921G>C (p.Cys1974Ser) c.5849G>C (p.Cys1950Ser) c.5876G>C (p.Cys1959Ser) c.5879G>C (p.Cys1960Ser) c.5918G>C (p.Cys1973Ser) c.5888G>C (p.Cys1963Ser) n.2710G>C c.5783G>C (p.Cys1928Ser) c.5846G>C (p.Cys1949Ser) c.5786G>C (p.Cys1929Ser) c.5984G>C (p.Cys1995Ser) c.5981G>C (p.Cys1994Ser) | |
2 | g.71679114G= | CA1260156850 | DYSF | c.3356G= (p.Cys1119=) c.2573G= (p.Cys858=) c.2681G= (p.Cys894=) c.5825G= (p.Cys1942=) c.5942G= (p.Cys1981=) c.5828G= (p.Cys1943=) c.5891G= (p.Cys1964=) c.5939G= (p.Cys1980=) c.5921G= (p.Cys1974=) c.5849G= (p.Cys1950=) c.5876G= (p.Cys1959=) c.5879G= (p.Cys1960=) c.5918G= (p.Cys1973=) c.5888G= (p.Cys1963=) n.2710G= c.5783G= (p.Cys1928=) c.5846G= (p.Cys1949=) c.5786G= (p.Cys1929=) c.5984G= (p.Cys1995=) c.5981G= (p.Cys1994=) | |
2 | g.71679114G>T | CA347226331 | DYSF | c.3356G>T (p.Cys1119Phe) c.2573G>T (p.Cys858Phe) c.2681G>T (p.Cys894Phe) c.5825G>T (p.Cys1942Phe) c.5942G>T (p.Cys1981Phe) c.5828G>T (p.Cys1943Phe) c.5891G>T (p.Cys1964Phe) c.5939G>T (p.Cys1980Phe) c.5921G>T (p.Cys1974Phe) c.5849G>T (p.Cys1950Phe) c.5876G>T (p.Cys1959Phe) c.5879G>T (p.Cys1960Phe) c.5918G>T (p.Cys1973Phe) c.5888G>T (p.Cys1963Phe) n.2710G>T c.5783G>T (p.Cys1928Phe) c.5846G>T (p.Cys1949Phe) c.5786G>T (p.Cys1929Phe) c.5984G>T (p.Cys1995Phe) c.5981G>T (p.Cys1994Phe) | |
2 | g.71679115C>A | CA347226332 | DYSF | c.3357C>A (p.Cys1119Ter) c.2574C>A (p.Cys858Ter) c.2682C>A (p.Cys894Ter) c.5826C>A (p.Cys1942Ter) c.5943C>A (p.Cys1981Ter) c.5829C>A (p.Cys1943Ter) c.5892C>A (p.Cys1964Ter) c.5940C>A (p.Cys1980Ter) c.5922C>A (p.Cys1974Ter) c.5850C>A (p.Cys1950Ter) c.5877C>A (p.Cys1959Ter) c.5880C>A (p.Cys1960Ter) c.5919C>A (p.Cys1973Ter) c.5889C>A (p.Cys1963Ter) n.2711C>A c.5784C>A (p.Cys1928Ter) c.5847C>A (p.Cys1949Ter) c.5787C>A (p.Cys1929Ter) c.5985C>A (p.Cys1995Ter) c.5982C>A (p.Cys1994Ter) | ClinVar |
2 | g.71679115C>G | CA347226333 | DYSF | c.3357C>G (p.Cys1119Trp) c.2574C>G (p.Cys858Trp) c.2682C>G (p.Cys894Trp) c.5826C>G (p.Cys1942Trp) c.5943C>G (p.Cys1981Trp) c.5829C>G (p.Cys1943Trp) c.5892C>G (p.Cys1964Trp) c.5940C>G (p.Cys1980Trp) c.5922C>G (p.Cys1974Trp) c.5850C>G (p.Cys1950Trp) c.5877C>G (p.Cys1959Trp) c.5880C>G (p.Cys1960Trp) c.5919C>G (p.Cys1973Trp) c.5889C>G (p.Cys1963Trp) n.2711C>G c.5784C>G (p.Cys1928Trp) c.5847C>G (p.Cys1949Trp) c.5787C>G (p.Cys1929Trp) c.5985C>G (p.Cys1995Trp) c.5982C>G (p.Cys1994Trp) | |
2 | g.71679115C>T | CA426704701 | DYSF | c.3357C>T (p.Cys1119=) c.2574C>T (p.Cys858=) c.2682C>T (p.Cys894=) c.5826C>T (p.Cys1942=) c.5943C>T (p.Cys1981=) c.5829C>T (p.Cys1943=) c.5892C>T (p.Cys1964=) c.5940C>T (p.Cys1980=) c.5922C>T (p.Cys1974=) c.5850C>T (p.Cys1950=) c.5877C>T (p.Cys1959=) c.5880C>T (p.Cys1960=) c.5919C>T (p.Cys1973=) c.5889C>T (p.Cys1963=) n.2711C>T c.5784C>T (p.Cys1928=) c.5847C>T (p.Cys1949=) c.5787C>T (p.Cys1929=) c.5985C>T (p.Cys1995=) c.5982C>T (p.Cys1994=) | ClinVar dbSNP |
2 | g.71679116T>A | CA347226334 | DYSF | c.3358T>A (p.Ser1120Thr) c.2575T>A (p.Ser859Thr) c.2683T>A (p.Ser895Thr) c.5827T>A (p.Ser1943Thr) c.5944T>A (p.Ser1982Thr) c.5830T>A (p.Ser1944Thr) c.5893T>A (p.Ser1965Thr) c.5941T>A (p.Ser1981Thr) c.5923T>A (p.Ser1975Thr) c.5851T>A (p.Ser1951Thr) c.5878T>A (p.Ser1960Thr) c.5881T>A (p.Ser1961Thr) c.5920T>A (p.Ser1974Thr) c.5890T>A (p.Ser1964Thr) n.2712T>A c.5785T>A (p.Ser1929Thr) c.5848T>A (p.Ser1950Thr) c.5788T>A (p.Ser1930Thr) c.5986T>A (p.Ser1996Thr) c.5983T>A (p.Ser1995Thr) | |
2 | g.71679116T>C | CA347226335 | DYSF | c.3358T>C (p.Ser1120Pro) c.2575T>C (p.Ser859Pro) c.2683T>C (p.Ser895Pro) c.5827T>C (p.Ser1943Pro) c.5944T>C (p.Ser1982Pro) c.5830T>C (p.Ser1944Pro) c.5893T>C (p.Ser1965Pro) c.5941T>C (p.Ser1981Pro) c.5923T>C (p.Ser1975Pro) c.5851T>C (p.Ser1951Pro) c.5878T>C (p.Ser1960Pro) c.5881T>C (p.Ser1961Pro) c.5920T>C (p.Ser1974Pro) c.5890T>C (p.Ser1964Pro) n.2712T>C c.5785T>C (p.Ser1929Pro) c.5848T>C (p.Ser1950Pro) c.5788T>C (p.Ser1930Pro) c.5986T>C (p.Ser1996Pro) c.5983T>C (p.Ser1995Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679116T>G | CA347226336 | DYSF | c.3358T>G (p.Ser1120Ala) c.2575T>G (p.Ser859Ala) c.2683T>G (p.Ser895Ala) c.5827T>G (p.Ser1943Ala) c.5944T>G (p.Ser1982Ala) c.5830T>G (p.Ser1944Ala) c.5893T>G (p.Ser1965Ala) c.5941T>G (p.Ser1981Ala) c.5923T>G (p.Ser1975Ala) c.5851T>G (p.Ser1951Ala) c.5878T>G (p.Ser1960Ala) c.5881T>G (p.Ser1961Ala) c.5920T>G (p.Ser1974Ala) c.5890T>G (p.Ser1964Ala) n.2712T>G c.5785T>G (p.Ser1929Ala) c.5848T>G (p.Ser1950Ala) c.5788T>G (p.Ser1930Ala) c.5986T>G (p.Ser1996Ala) c.5983T>G (p.Ser1995Ala) | |
2 | g.71679116T= | CA1260156851 | DYSF | c.3358T= (p.Ser1120=) c.2575T= (p.Ser859=) c.2683T= (p.Ser895=) c.5827T= (p.Ser1943=) c.5944T= (p.Ser1982=) c.5830T= (p.Ser1944=) c.5893T= (p.Ser1965=) c.5941T= (p.Ser1981=) c.5923T= (p.Ser1975=) c.5851T= (p.Ser1951=) c.5878T= (p.Ser1960=) c.5881T= (p.Ser1961=) c.5920T= (p.Ser1974=) c.5890T= (p.Ser1964=) n.2712T= c.5785T= (p.Ser1929=) c.5848T= (p.Ser1950=) c.5788T= (p.Ser1930=) c.5986T= (p.Ser1996=) c.5983T= (p.Ser1995=) | |
2 | g.71679117C>A | CA347226337 | DYSF | c.3359C>A (p.Ser1120Tyr) c.2576C>A (p.Ser859Tyr) c.2684C>A (p.Ser895Tyr) c.5828C>A (p.Ser1943Tyr) c.5945C>A (p.Ser1982Tyr) c.5831C>A (p.Ser1944Tyr) c.5894C>A (p.Ser1965Tyr) c.5942C>A (p.Ser1981Tyr) c.5924C>A (p.Ser1975Tyr) c.5852C>A (p.Ser1951Tyr) c.5879C>A (p.Ser1960Tyr) c.5882C>A (p.Ser1961Tyr) c.5921C>A (p.Ser1974Tyr) c.5891C>A (p.Ser1964Tyr) n.2713C>A c.5786C>A (p.Ser1929Tyr) c.5849C>A (p.Ser1950Tyr) c.5789C>A (p.Ser1930Tyr) c.5987C>A (p.Ser1996Tyr) c.5984C>A (p.Ser1995Tyr) | |
2 | g.71679117C= | CA1260156852 | DYSF | c.3359C= (p.Ser1120=) c.2576C= (p.Ser859=) c.2684C= (p.Ser895=) c.5828C= (p.Ser1943=) c.5945C= (p.Ser1982=) c.5831C= (p.Ser1944=) c.5894C= (p.Ser1965=) c.5942C= (p.Ser1981=) c.5924C= (p.Ser1975=) c.5852C= (p.Ser1951=) c.5879C= (p.Ser1960=) c.5882C= (p.Ser1961=) c.5921C= (p.Ser1974=) c.5891C= (p.Ser1964=) n.2713C= c.5786C= (p.Ser1929=) c.5849C= (p.Ser1950=) c.5789C= (p.Ser1930=) c.5987C= (p.Ser1996=) c.5984C= (p.Ser1995=) | |
2 | g.71679117C>G | CA1707555 | DYSF | c.3359C>G (p.Ser1120Cys) c.2576C>G (p.Ser859Cys) c.2684C>G (p.Ser895Cys) c.5828C>G (p.Ser1943Cys) c.5945C>G (p.Ser1982Cys) c.5831C>G (p.Ser1944Cys) c.5894C>G (p.Ser1965Cys) c.5942C>G (p.Ser1981Cys) c.5924C>G (p.Ser1975Cys) c.5852C>G (p.Ser1951Cys) c.5879C>G (p.Ser1960Cys) c.5882C>G (p.Ser1961Cys) c.5921C>G (p.Ser1974Cys) c.5891C>G (p.Ser1964Cys) n.2713C>G c.5786C>G (p.Ser1929Cys) c.5849C>G (p.Ser1950Cys) c.5789C>G (p.Ser1930Cys) c.5987C>G (p.Ser1996Cys) c.5984C>G (p.Ser1995Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679117C>T | CA49774345 | DYSF | c.3359C>T (p.Ser1120Phe) c.2576C>T (p.Ser859Phe) c.2684C>T (p.Ser895Phe) c.5828C>T (p.Ser1943Phe) c.5945C>T (p.Ser1982Phe) c.5831C>T (p.Ser1944Phe) c.5894C>T (p.Ser1965Phe) c.5942C>T (p.Ser1981Phe) c.5924C>T (p.Ser1975Phe) c.5852C>T (p.Ser1951Phe) c.5879C>T (p.Ser1960Phe) c.5882C>T (p.Ser1961Phe) c.5921C>T (p.Ser1974Phe) c.5891C>T (p.Ser1964Phe) n.2713C>T c.5786C>T (p.Ser1929Phe) c.5849C>T (p.Ser1950Phe) c.5789C>T (p.Ser1930Phe) c.5987C>T (p.Ser1996Phe) c.5984C>T (p.Ser1995Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71679117_71679132del | CA2573106059 | DYSF | c.3359_3374del (p.Ser1120LeufsTer18) c.2576_2591del (p.Ser859LeufsTer18) c.2684_2699del (p.Ser895LeufsTer18) c.5828_5843del (p.Ser1943LeufsTer18) c.5945_5960del (p.Ser1982LeufsTer18) c.5831_5846del (p.Ser1944LeufsTer18) c.5894_5909del (p.Ser1965LeufsTer18) c.5942_5957del (p.Ser1981LeufsTer18) c.5924_5939del (p.Ser1975LeufsTer18) c.5852_5867del (p.Ser1951LeufsTer18) c.5879_5894del (p.Ser1960LeufsTer18) c.5882_5897del (p.Ser1961LeufsTer18) c.5921_5936del (p.Ser1974LeufsTer18) c.5891_5906del (p.Ser1964LeufsTer18) n.2713_2728del c.5786_5801del (p.Ser1929LeufsTer18) c.5849_5864del (p.Ser1950LeufsTer18) c.5789_5804del (p.Ser1930LeufsTer18) c.5987_6002del (p.Ser1996LeufsTer18) c.5984_5999del (p.Ser1995LeufsTer18) | |
2 | g.71679118C>A | CA426704702 | DYSF | c.3360C>A (p.Ser1120=) c.2577C>A (p.Ser859=) c.2685C>A (p.Ser895=) c.5829C>A (p.Ser1943=) c.5946C>A (p.Ser1982=) c.5832C>A (p.Ser1944=) c.5895C>A (p.Ser1965=) c.5943C>A (p.Ser1981=) c.5925C>A (p.Ser1975=) c.5853C>A (p.Ser1951=) c.5880C>A (p.Ser1960=) c.5883C>A (p.Ser1961=) c.5922C>A (p.Ser1974=) c.5892C>A (p.Ser1964=) n.2714C>A c.5787C>A (p.Ser1929=) c.5850C>A (p.Ser1950=) c.5790C>A (p.Ser1930=) c.5988C>A (p.Ser1996=) c.5985C>A (p.Ser1995=) | |
2 | g.71679118C= | CA1260156853 | DYSF | c.3360C= (p.Ser1120=) c.2577C= (p.Ser859=) c.2685C= (p.Ser895=) c.5829C= (p.Ser1943=) c.5946C= (p.Ser1982=) c.5832C= (p.Ser1944=) c.5895C= (p.Ser1965=) c.5943C= (p.Ser1981=) c.5925C= (p.Ser1975=) c.5853C= (p.Ser1951=) c.5880C= (p.Ser1960=) c.5883C= (p.Ser1961=) c.5922C= (p.Ser1974=) c.5892C= (p.Ser1964=) n.2714C= c.5787C= (p.Ser1929=) c.5850C= (p.Ser1950=) c.5790C= (p.Ser1930=) c.5988C= (p.Ser1996=) c.5985C= (p.Ser1995=) | |
2 | g.71679118C>G | CA49774349 | DYSF | c.3360C>G (p.Ser1120=) c.2577C>G (p.Ser859=) c.2685C>G (p.Ser895=) c.5829C>G (p.Ser1943=) c.5946C>G (p.Ser1982=) c.5832C>G (p.Ser1944=) c.5895C>G (p.Ser1965=) c.5943C>G (p.Ser1981=) c.5925C>G (p.Ser1975=) c.5853C>G (p.Ser1951=) c.5880C>G (p.Ser1960=) c.5883C>G (p.Ser1961=) c.5922C>G (p.Ser1974=) c.5892C>G (p.Ser1964=) n.2714C>G c.5787C>G (p.Ser1929=) c.5850C>G (p.Ser1950=) c.5790C>G (p.Ser1930=) c.5988C>G (p.Ser1996=) c.5985C>G (p.Ser1995=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679118C>T | CA426704703 | DYSF | c.3360C>T (p.Ser1120=) c.2577C>T (p.Ser859=) c.2685C>T (p.Ser895=) c.5829C>T (p.Ser1943=) c.5946C>T (p.Ser1982=) c.5832C>T (p.Ser1944=) c.5895C>T (p.Ser1965=) c.5943C>T (p.Ser1981=) c.5925C>T (p.Ser1975=) c.5853C>T (p.Ser1951=) c.5880C>T (p.Ser1960=) c.5883C>T (p.Ser1961=) c.5922C>T (p.Ser1974=) c.5892C>T (p.Ser1964=) n.2714C>T c.5787C>T (p.Ser1929=) c.5850C>T (p.Ser1950=) c.5790C>T (p.Ser1930=) c.5988C>T (p.Ser1996=) c.5985C>T (p.Ser1995=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679119T>A | CA347226338 | DYSF | c.3361T>A (p.Leu1121Met) c.2578T>A (p.Leu860Met) c.2686T>A (p.Leu896Met) c.5830T>A (p.Leu1944Met) c.5947T>A (p.Leu1983Met) c.5833T>A (p.Leu1945Met) c.5896T>A (p.Leu1966Met) c.5944T>A (p.Leu1982Met) c.5926T>A (p.Leu1976Met) c.5854T>A (p.Leu1952Met) c.5881T>A (p.Leu1961Met) c.5884T>A (p.Leu1962Met) c.5923T>A (p.Leu1975Met) c.5893T>A (p.Leu1965Met) n.2715T>A c.5788T>A (p.Leu1930Met) c.5851T>A (p.Leu1951Met) c.5791T>A (p.Leu1931Met) c.5989T>A (p.Leu1997Met) c.5986T>A (p.Leu1996Met) | |
2 | g.71679119T>C | CA426704704 | DYSF | c.3361T>C (p.Leu1121=) c.2578T>C (p.Leu860=) c.2686T>C (p.Leu896=) c.5830T>C (p.Leu1944=) c.5947T>C (p.Leu1983=) c.5833T>C (p.Leu1945=) c.5896T>C (p.Leu1966=) c.5944T>C (p.Leu1982=) c.5926T>C (p.Leu1976=) c.5854T>C (p.Leu1952=) c.5881T>C (p.Leu1961=) c.5884T>C (p.Leu1962=) c.5923T>C (p.Leu1975=) c.5893T>C (p.Leu1965=) n.2715T>C c.5788T>C (p.Leu1930=) c.5851T>C (p.Leu1951=) c.5791T>C (p.Leu1931=) c.5989T>C (p.Leu1997=) c.5986T>C (p.Leu1996=) | |
2 | g.71679119T>G | CA347226339 | DYSF | c.3361T>G (p.Leu1121Val) c.2578T>G (p.Leu860Val) c.2686T>G (p.Leu896Val) c.5830T>G (p.Leu1944Val) c.5947T>G (p.Leu1983Val) c.5833T>G (p.Leu1945Val) c.5896T>G (p.Leu1966Val) c.5944T>G (p.Leu1982Val) c.5926T>G (p.Leu1976Val) c.5854T>G (p.Leu1952Val) c.5881T>G (p.Leu1961Val) c.5884T>G (p.Leu1962Val) c.5923T>G (p.Leu1975Val) c.5893T>G (p.Leu1965Val) n.2715T>G c.5788T>G (p.Leu1930Val) c.5851T>G (p.Leu1951Val) c.5791T>G (p.Leu1931Val) c.5989T>G (p.Leu1997Val) c.5986T>G (p.Leu1996Val) | ClinVar dbSNP gnomAD v4 |
2 | g.71679120T>A | CA347226340 | DYSF | c.3362T>A (p.Leu1121Ter) c.2579T>A (p.Leu860Ter) c.2687T>A (p.Leu896Ter) c.5831T>A (p.Leu1944Ter) c.5948T>A (p.Leu1983Ter) c.5834T>A (p.Leu1945Ter) c.5897T>A (p.Leu1966Ter) c.5945T>A (p.Leu1982Ter) c.5927T>A (p.Leu1976Ter) c.5855T>A (p.Leu1952Ter) c.5882T>A (p.Leu1961Ter) c.5885T>A (p.Leu1962Ter) c.5924T>A (p.Leu1975Ter) c.5894T>A (p.Leu1965Ter) n.2716T>A c.5789T>A (p.Leu1930Ter) c.5852T>A (p.Leu1951Ter) c.5792T>A (p.Leu1931Ter) c.5990T>A (p.Leu1997Ter) c.5987T>A (p.Leu1996Ter) | |
2 | g.71679120T>C | CA347226341 | DYSF | c.3362T>C (p.Leu1121Ser) c.2579T>C (p.Leu860Ser) c.2687T>C (p.Leu896Ser) c.5831T>C (p.Leu1944Ser) c.5948T>C (p.Leu1983Ser) c.5834T>C (p.Leu1945Ser) c.5897T>C (p.Leu1966Ser) c.5945T>C (p.Leu1982Ser) c.5927T>C (p.Leu1976Ser) c.5855T>C (p.Leu1952Ser) c.5882T>C (p.Leu1961Ser) c.5885T>C (p.Leu1962Ser) c.5924T>C (p.Leu1975Ser) c.5894T>C (p.Leu1965Ser) n.2716T>C c.5789T>C (p.Leu1930Ser) c.5852T>C (p.Leu1951Ser) c.5792T>C (p.Leu1931Ser) c.5990T>C (p.Leu1997Ser) c.5987T>C (p.Leu1996Ser) | |
2 | g.71679120T>G | CA347226342 | DYSF | c.3362T>G (p.Leu1121Trp) c.2579T>G (p.Leu860Trp) c.2687T>G (p.Leu896Trp) c.5831T>G (p.Leu1944Trp) c.5948T>G (p.Leu1983Trp) c.5834T>G (p.Leu1945Trp) c.5897T>G (p.Leu1966Trp) c.5945T>G (p.Leu1982Trp) c.5927T>G (p.Leu1976Trp) c.5855T>G (p.Leu1952Trp) c.5882T>G (p.Leu1961Trp) c.5885T>G (p.Leu1962Trp) c.5924T>G (p.Leu1975Trp) c.5894T>G (p.Leu1965Trp) n.2716T>G c.5789T>G (p.Leu1930Trp) c.5852T>G (p.Leu1951Trp) c.5792T>G (p.Leu1931Trp) c.5990T>G (p.Leu1997Trp) c.5987T>G (p.Leu1996Trp) | |
2 | g.71679121G>A | CA426704705 | DYSF | c.3363G>A (p.Leu1121=) c.2580G>A (p.Leu860=) c.2688G>A (p.Leu896=) c.5832G>A (p.Leu1944=) c.5949G>A (p.Leu1983=) c.5835G>A (p.Leu1945=) c.5898G>A (p.Leu1966=) c.5946G>A (p.Leu1982=) c.5928G>A (p.Leu1976=) c.5856G>A (p.Leu1952=) c.5883G>A (p.Leu1961=) c.5886G>A (p.Leu1962=) c.5925G>A (p.Leu1975=) c.5895G>A (p.Leu1965=) n.2717G>A c.5790G>A (p.Leu1930=) c.5853G>A (p.Leu1951=) c.5793G>A (p.Leu1931=) c.5991G>A (p.Leu1997=) c.5988G>A (p.Leu1996=) | gnomAD v4 |
2 | g.71679121G>C | CA347226343 | DYSF | c.3363G>C (p.Leu1121Phe) c.2580G>C (p.Leu860Phe) c.2688G>C (p.Leu896Phe) c.5832G>C (p.Leu1944Phe) c.5949G>C (p.Leu1983Phe) c.5835G>C (p.Leu1945Phe) c.5898G>C (p.Leu1966Phe) c.5946G>C (p.Leu1982Phe) c.5928G>C (p.Leu1976Phe) c.5856G>C (p.Leu1952Phe) c.5883G>C (p.Leu1961Phe) c.5886G>C (p.Leu1962Phe) c.5925G>C (p.Leu1975Phe) c.5895G>C (p.Leu1965Phe) n.2717G>C c.5790G>C (p.Leu1930Phe) c.5853G>C (p.Leu1951Phe) c.5793G>C (p.Leu1931Phe) c.5991G>C (p.Leu1997Phe) c.5988G>C (p.Leu1996Phe) | |
2 | g.71679121G>T | CA347226344 | DYSF | c.3363G>T (p.Leu1121Phe) c.2580G>T (p.Leu860Phe) c.2688G>T (p.Leu896Phe) c.5832G>T (p.Leu1944Phe) c.5949G>T (p.Leu1983Phe) c.5835G>T (p.Leu1945Phe) c.5898G>T (p.Leu1966Phe) c.5946G>T (p.Leu1982Phe) c.5928G>T (p.Leu1976Phe) c.5856G>T (p.Leu1952Phe) c.5883G>T (p.Leu1961Phe) c.5886G>T (p.Leu1962Phe) c.5925G>T (p.Leu1975Phe) c.5895G>T (p.Leu1965Phe) n.2717G>T c.5790G>T (p.Leu1930Phe) c.5853G>T (p.Leu1951Phe) c.5793G>T (p.Leu1931Phe) c.5991G>T (p.Leu1997Phe) c.5988G>T (p.Leu1996Phe) | |
2 | g.71679122G>A | CA347226345 | DYSF | c.3364G>A (p.Asp1122Asn) c.2581G>A (p.Asp861Asn) c.2689G>A (p.Asp897Asn) c.5833G>A (p.Asp1945Asn) c.5950G>A (p.Asp1984Asn) c.5836G>A (p.Asp1946Asn) c.5899G>A (p.Asp1967Asn) c.5947G>A (p.Asp1983Asn) c.5929G>A (p.Asp1977Asn) c.5857G>A (p.Asp1953Asn) c.5884G>A (p.Asp1962Asn) c.5887G>A (p.Asp1963Asn) c.5926G>A (p.Asp1976Asn) c.5896G>A (p.Asp1966Asn) n.2718G>A c.5791G>A (p.Asp1931Asn) c.5854G>A (p.Asp1952Asn) c.5794G>A (p.Asp1932Asn) c.5992G>A (p.Asp1998Asn) c.5989G>A (p.Asp1997Asn) | |
2 | g.71679122G>C | CA347226346 | DYSF | c.3364G>C (p.Asp1122His) c.2581G>C (p.Asp861His) c.2689G>C (p.Asp897His) c.5833G>C (p.Asp1945His) c.5950G>C (p.Asp1984His) c.5836G>C (p.Asp1946His) c.5899G>C (p.Asp1967His) c.5947G>C (p.Asp1983His) c.5929G>C (p.Asp1977His) c.5857G>C (p.Asp1953His) c.5884G>C (p.Asp1962His) c.5887G>C (p.Asp1963His) c.5926G>C (p.Asp1976His) c.5896G>C (p.Asp1966His) n.2718G>C c.5791G>C (p.Asp1931His) c.5854G>C (p.Asp1952His) c.5794G>C (p.Asp1932His) c.5992G>C (p.Asp1998His) c.5989G>C (p.Asp1997His) | |
2 | g.71679122G>T | CA347226347 | DYSF | c.3364G>T (p.Asp1122Tyr) c.2581G>T (p.Asp861Tyr) c.2689G>T (p.Asp897Tyr) c.5833G>T (p.Asp1945Tyr) c.5950G>T (p.Asp1984Tyr) c.5836G>T (p.Asp1946Tyr) c.5899G>T (p.Asp1967Tyr) c.5947G>T (p.Asp1983Tyr) c.5929G>T (p.Asp1977Tyr) c.5857G>T (p.Asp1953Tyr) c.5884G>T (p.Asp1962Tyr) c.5887G>T (p.Asp1963Tyr) c.5926G>T (p.Asp1976Tyr) c.5896G>T (p.Asp1966Tyr) n.2718G>T c.5791G>T (p.Asp1931Tyr) c.5854G>T (p.Asp1952Tyr) c.5794G>T (p.Asp1932Tyr) c.5992G>T (p.Asp1998Tyr) c.5989G>T (p.Asp1997Tyr) | |
2 | g.71679123A= | CA1260156855 | DYSF | c.3365A= (p.Asp1122=) c.2582A= (p.Asp861=) c.2690A= (p.Asp897=) c.5834A= (p.Asp1945=) c.5951A= (p.Asp1984=) c.5837A= (p.Asp1946=) c.5900A= (p.Asp1967=) c.5948A= (p.Asp1983=) c.5930A= (p.Asp1977=) c.5858A= (p.Asp1953=) c.5885A= (p.Asp1962=) c.5888A= (p.Asp1963=) c.5927A= (p.Asp1976=) c.5897A= (p.Asp1966=) n.2719A= c.5792A= (p.Asp1931=) c.5855A= (p.Asp1952=) c.5795A= (p.Asp1932=) c.5993A= (p.Asp1998=) c.5990A= (p.Asp1997=) | |
2 | g.71679123A>C | CA347226348 | DYSF | c.3365A>C (p.Asp1122Ala) c.2582A>C (p.Asp861Ala) c.2690A>C (p.Asp897Ala) c.5834A>C (p.Asp1945Ala) c.5951A>C (p.Asp1984Ala) c.5837A>C (p.Asp1946Ala) c.5900A>C (p.Asp1967Ala) c.5948A>C (p.Asp1983Ala) c.5930A>C (p.Asp1977Ala) c.5858A>C (p.Asp1953Ala) c.5885A>C (p.Asp1962Ala) c.5888A>C (p.Asp1963Ala) c.5927A>C (p.Asp1976Ala) c.5897A>C (p.Asp1966Ala) n.2719A>C c.5792A>C (p.Asp1931Ala) c.5855A>C (p.Asp1952Ala) c.5795A>C (p.Asp1932Ala) c.5993A>C (p.Asp1998Ala) c.5990A>C (p.Asp1997Ala) | |
2 | g.71679123A>G | CA347226349 | DYSF | c.3365A>G (p.Asp1122Gly) c.2582A>G (p.Asp861Gly) c.2690A>G (p.Asp897Gly) c.5834A>G (p.Asp1945Gly) c.5951A>G (p.Asp1984Gly) c.5837A>G (p.Asp1946Gly) c.5900A>G (p.Asp1967Gly) c.5948A>G (p.Asp1983Gly) c.5930A>G (p.Asp1977Gly) c.5858A>G (p.Asp1953Gly) c.5885A>G (p.Asp1962Gly) c.5888A>G (p.Asp1963Gly) c.5927A>G (p.Asp1976Gly) c.5897A>G (p.Asp1966Gly) n.2719A>G c.5792A>G (p.Asp1931Gly) c.5855A>G (p.Asp1952Gly) c.5795A>G (p.Asp1932Gly) c.5993A>G (p.Asp1998Gly) c.5990A>G (p.Asp1997Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679123A>T | CA347226350 | DYSF | c.3365A>T (p.Asp1122Val) c.2582A>T (p.Asp861Val) c.2690A>T (p.Asp897Val) c.5834A>T (p.Asp1945Val) c.5951A>T (p.Asp1984Val) c.5837A>T (p.Asp1946Val) c.5900A>T (p.Asp1967Val) c.5948A>T (p.Asp1983Val) c.5930A>T (p.Asp1977Val) c.5858A>T (p.Asp1953Val) c.5885A>T (p.Asp1962Val) c.5888A>T (p.Asp1963Val) c.5927A>T (p.Asp1976Val) c.5897A>T (p.Asp1966Val) n.2719A>T c.5792A>T (p.Asp1931Val) c.5855A>T (p.Asp1952Val) c.5795A>T (p.Asp1932Val) c.5993A>T (p.Asp1998Val) c.5990A>T (p.Asp1997Val) | |
2 | g.71679123_71679127delinsACCAG | CA1260156854 | DYSF | c.3365_3369delinsACCAG (p.Asp1122=) c.2582_2586delinsACCAG (p.Asp861=) c.2690_2694delinsACCAG (p.Asp897=) c.5834_5838delinsACCAG (p.Asp1945=) c.5951_5955delinsACCAG (p.Asp1984=) c.5837_5841delinsACCAG (p.Asp1946=) c.5900_5904delinsACCAG (p.Asp1967=) c.5948_5952delinsACCAG (p.Asp1983=) c.5930_5934delinsACCAG (p.Asp1977=) c.5858_5862delinsACCAG (p.Asp1953=) c.5885_5889delinsACCAG (p.Asp1962=) c.5888_5892delinsACCAG (p.Asp1963=) c.5927_5931delinsACCAG (p.Asp1976=) c.5897_5901delinsACCAG (p.Asp1966=) n.2719_2723delinsACCAG c.5792_5796delinsACCAG (p.Asp1931=) c.5855_5859delinsACCAG (p.Asp1952=) c.5795_5799delinsACCAG (p.Asp1932=) c.5993_5997delinsACCAG (p.Asp1998=) c.5990_5994delinsACCAG (p.Asp1997=) | |
2 | g.71679124C>A | CA1707556 | DYSF | c.3366C>A (p.Asp1122Glu) c.2583C>A (p.Asp861Glu) c.2691C>A (p.Asp897Glu) c.5835C>A (p.Asp1945Glu) c.5952C>A (p.Asp1984Glu) c.5838C>A (p.Asp1946Glu) c.5901C>A (p.Asp1967Glu) c.5949C>A (p.Asp1983Glu) c.5931C>A (p.Asp1977Glu) c.5859C>A (p.Asp1953Glu) c.5886C>A (p.Asp1962Glu) c.5889C>A (p.Asp1963Glu) c.5928C>A (p.Asp1976Glu) c.5898C>A (p.Asp1966Glu) n.2720C>A c.5793C>A (p.Asp1931Glu) c.5856C>A (p.Asp1952Glu) c.5796C>A (p.Asp1932Glu) c.5994C>A (p.Asp1998Glu) c.5991C>A (p.Asp1997Glu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.71679124C= | CA1260156856 | DYSF | c.3366C= (p.Asp1122=) c.2583C= (p.Asp861=) c.2691C= (p.Asp897=) c.5835C= (p.Asp1945=) c.5952C= (p.Asp1984=) c.5838C= (p.Asp1946=) c.5901C= (p.Asp1967=) c.5949C= (p.Asp1983=) c.5931C= (p.Asp1977=) c.5859C= (p.Asp1953=) c.5886C= (p.Asp1962=) c.5889C= (p.Asp1963=) c.5928C= (p.Asp1976=) c.5898C= (p.Asp1966=) n.2720C= c.5793C= (p.Asp1931=) c.5856C= (p.Asp1952=) c.5796C= (p.Asp1932=) c.5994C= (p.Asp1998=) c.5991C= (p.Asp1997=) | |
2 | g.71679124C>G | CA347226351 | DYSF | c.3366C>G (p.Asp1122Glu) c.2583C>G (p.Asp861Glu) c.2691C>G (p.Asp897Glu) c.5835C>G (p.Asp1945Glu) c.5952C>G (p.Asp1984Glu) c.5838C>G (p.Asp1946Glu) c.5901C>G (p.Asp1967Glu) c.5949C>G (p.Asp1983Glu) c.5931C>G (p.Asp1977Glu) c.5859C>G (p.Asp1953Glu) c.5886C>G (p.Asp1962Glu) c.5889C>G (p.Asp1963Glu) c.5928C>G (p.Asp1976Glu) c.5898C>G (p.Asp1966Glu) n.2720C>G c.5793C>G (p.Asp1931Glu) c.5856C>G (p.Asp1952Glu) c.5796C>G (p.Asp1932Glu) c.5994C>G (p.Asp1998Glu) c.5991C>G (p.Asp1997Glu) | dbSNP |
2 | g.71679124C>T | CA426704706 | DYSF | c.3366C>T (p.Asp1122=) c.2583C>T (p.Asp861=) c.2691C>T (p.Asp897=) c.5835C>T (p.Asp1945=) c.5952C>T (p.Asp1984=) c.5838C>T (p.Asp1946=) c.5901C>T (p.Asp1967=) c.5949C>T (p.Asp1983=) c.5931C>T (p.Asp1977=) c.5859C>T (p.Asp1953=) c.5886C>T (p.Asp1962=) c.5889C>T (p.Asp1963=) c.5928C>T (p.Asp1976=) c.5898C>T (p.Asp1966=) n.2720C>T c.5793C>T (p.Asp1931=) c.5856C>T (p.Asp1952=) c.5796C>T (p.Asp1932=) c.5994C>T (p.Asp1998=) c.5991C>T (p.Asp1997=) | gnomAD v4 |
2 | g.71679125_71679128del | CA222196 | DYSF | c.3367_3370del (p.Gln1123TrpfsTer19) c.2584_2587del (p.Gln862TrpfsTer19) c.2692_2695del (p.Gln898TrpfsTer19) c.5836_5839del (p.Gln1946TrpfsTer19) c.5953_5956del (p.Gln1985TrpfsTer19) c.5839_5842del (p.Gln1947TrpfsTer19) c.5902_5905del (p.Gln1968TrpfsTer19) c.5950_5953del (p.Gln1984TrpfsTer19) c.5932_5935del (p.Gln1978TrpfsTer19) c.5860_5863del (p.Gln1954TrpfsTer19) c.5887_5890del (p.Gln1963TrpfsTer19) c.5890_5893del (p.Gln1964TrpfsTer19) c.5929_5932del (p.Gln1977TrpfsTer19) c.5899_5902del (p.Gln1967TrpfsTer19) n.2721_2724del c.5794_5797del (p.Gln1932TrpfsTer19) c.5857_5860del (p.Gln1953TrpfsTer19) c.5797_5800del (p.Gln1933TrpfsTer19) c.5995_5998del (p.Gln1999TrpfsTer19) c.5992_5995del (p.Gln1998TrpfsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679125C>A | CA347226354 | DYSF | c.3367C>A (p.Gln1123Lys) c.2584C>A (p.Gln862Lys) c.2692C>A (p.Gln898Lys) c.5836C>A (p.Gln1946Lys) c.5953C>A (p.Gln1985Lys) c.5839C>A (p.Gln1947Lys) c.5902C>A (p.Gln1968Lys) c.5950C>A (p.Gln1984Lys) c.5932C>A (p.Gln1978Lys) c.5860C>A (p.Gln1954Lys) c.5887C>A (p.Gln1963Lys) c.5890C>A (p.Gln1964Lys) c.5929C>A (p.Gln1977Lys) c.5899C>A (p.Gln1967Lys) n.2721C>A c.5794C>A (p.Gln1932Lys) c.5857C>A (p.Gln1953Lys) c.5797C>A (p.Gln1933Lys) c.5995C>A (p.Gln1999Lys) c.5992C>A (p.Gln1998Lys) | gnomAD v3 gnomAD v4 |
2 | g.71679125C= | CA1260156857 | DYSF | c.3367C= (p.Gln1123=) c.2584C= (p.Gln862=) c.2692C= (p.Gln898=) c.5836C= (p.Gln1946=) c.5953C= (p.Gln1985=) c.5839C= (p.Gln1947=) c.5902C= (p.Gln1968=) c.5950C= (p.Gln1984=) c.5932C= (p.Gln1978=) c.5860C= (p.Gln1954=) c.5887C= (p.Gln1963=) c.5890C= (p.Gln1964=) c.5929C= (p.Gln1977=) c.5899C= (p.Gln1967=) n.2721C= c.5794C= (p.Gln1932=) c.5857C= (p.Gln1953=) c.5797C= (p.Gln1933=) c.5995C= (p.Gln1999=) c.5992C= (p.Gln1998=) | |
2 | g.71679125C>G | CA347226352 | DYSF | c.3367C>G (p.Gln1123Glu) c.2584C>G (p.Gln862Glu) c.2692C>G (p.Gln898Glu) c.5836C>G (p.Gln1946Glu) c.5953C>G (p.Gln1985Glu) c.5839C>G (p.Gln1947Glu) c.5902C>G (p.Gln1968Glu) c.5950C>G (p.Gln1984Glu) c.5932C>G (p.Gln1978Glu) c.5860C>G (p.Gln1954Glu) c.5887C>G (p.Gln1963Glu) c.5890C>G (p.Gln1964Glu) c.5929C>G (p.Gln1977Glu) c.5899C>G (p.Gln1967Glu) n.2721C>G c.5794C>G (p.Gln1932Glu) c.5857C>G (p.Gln1953Glu) c.5797C>G (p.Gln1933Glu) c.5995C>G (p.Gln1999Glu) c.5992C>G (p.Gln1998Glu) | |
2 | g.71679125C>T | CA347226353 | DYSF | c.3367C>T (p.Gln1123Ter) c.2584C>T (p.Gln862Ter) c.2692C>T (p.Gln898Ter) c.5836C>T (p.Gln1946Ter) c.5953C>T (p.Gln1985Ter) c.5839C>T (p.Gln1947Ter) c.5902C>T (p.Gln1968Ter) c.5950C>T (p.Gln1984Ter) c.5932C>T (p.Gln1978Ter) c.5860C>T (p.Gln1954Ter) c.5887C>T (p.Gln1963Ter) c.5890C>T (p.Gln1964Ter) c.5929C>T (p.Gln1977Ter) c.5899C>T (p.Gln1967Ter) n.2721C>T c.5794C>T (p.Gln1932Ter) c.5857C>T (p.Gln1953Ter) c.5797C>T (p.Gln1933Ter) c.5995C>T (p.Gln1999Ter) c.5992C>T (p.Gln1998Ter) | dbSNP |
2 | g.71679126A= | CA1260156858 | DYSF | c.3368A= (p.Gln1123=) c.2585A= (p.Gln862=) c.2693A= (p.Gln898=) c.5837A= (p.Gln1946=) c.5954A= (p.Gln1985=) c.5840A= (p.Gln1947=) c.5903A= (p.Gln1968=) c.5951A= (p.Gln1984=) c.5933A= (p.Gln1978=) c.5861A= (p.Gln1954=) c.5888A= (p.Gln1963=) c.5891A= (p.Gln1964=) c.5930A= (p.Gln1977=) c.5900A= (p.Gln1967=) n.2722A= c.5795A= (p.Gln1932=) c.5858A= (p.Gln1953=) c.5798A= (p.Gln1933=) c.5996A= (p.Gln1999=) c.5993A= (p.Gln1998=) | |
2 | g.71679126A>C | CA347226355 | DYSF | c.3368A>C (p.Gln1123Pro) c.2585A>C (p.Gln862Pro) c.2693A>C (p.Gln898Pro) c.5837A>C (p.Gln1946Pro) c.5954A>C (p.Gln1985Pro) c.5840A>C (p.Gln1947Pro) c.5903A>C (p.Gln1968Pro) c.5951A>C (p.Gln1984Pro) c.5933A>C (p.Gln1978Pro) c.5861A>C (p.Gln1954Pro) c.5888A>C (p.Gln1963Pro) c.5891A>C (p.Gln1964Pro) c.5930A>C (p.Gln1977Pro) c.5900A>C (p.Gln1967Pro) n.2722A>C c.5795A>C (p.Gln1932Pro) c.5858A>C (p.Gln1953Pro) c.5798A>C (p.Gln1933Pro) c.5996A>C (p.Gln1999Pro) c.5993A>C (p.Gln1998Pro) | |
2 | g.71679126A>G | CA347226356 | DYSF | c.3368A>G (p.Gln1123Arg) c.2585A>G (p.Gln862Arg) c.2693A>G (p.Gln898Arg) c.5837A>G (p.Gln1946Arg) c.5954A>G (p.Gln1985Arg) c.5840A>G (p.Gln1947Arg) c.5903A>G (p.Gln1968Arg) c.5951A>G (p.Gln1984Arg) c.5933A>G (p.Gln1978Arg) c.5861A>G (p.Gln1954Arg) c.5888A>G (p.Gln1963Arg) c.5891A>G (p.Gln1964Arg) c.5930A>G (p.Gln1977Arg) c.5900A>G (p.Gln1967Arg) n.2722A>G c.5795A>G (p.Gln1932Arg) c.5858A>G (p.Gln1953Arg) c.5798A>G (p.Gln1933Arg) c.5996A>G (p.Gln1999Arg) c.5993A>G (p.Gln1998Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71679126A>T | CA347226357 | DYSF | c.3368A>T (p.Gln1123Leu) c.2585A>T (p.Gln862Leu) c.2693A>T (p.Gln898Leu) c.5837A>T (p.Gln1946Leu) c.5954A>T (p.Gln1985Leu) c.5840A>T (p.Gln1947Leu) c.5903A>T (p.Gln1968Leu) c.5951A>T (p.Gln1984Leu) c.5933A>T (p.Gln1978Leu) c.5861A>T (p.Gln1954Leu) c.5888A>T (p.Gln1963Leu) c.5891A>T (p.Gln1964Leu) c.5930A>T (p.Gln1977Leu) c.5900A>T (p.Gln1967Leu) n.2722A>T c.5795A>T (p.Gln1932Leu) c.5858A>T (p.Gln1953Leu) c.5798A>T (p.Gln1933Leu) c.5996A>T (p.Gln1999Leu) c.5993A>T (p.Gln1998Leu) | |
2 | g.71679127G>A | CA426704707 | DYSF | c.3369G>A (p.Gln1123=) c.2586G>A (p.Gln862=) c.2694G>A (p.Gln898=) c.5838G>A (p.Gln1946=) c.5955G>A (p.Gln1985=) c.5841G>A (p.Gln1947=) c.5904G>A (p.Gln1968=) c.5952G>A (p.Gln1984=) c.5934G>A (p.Gln1978=) c.5862G>A (p.Gln1954=) c.5889G>A (p.Gln1963=) c.5892G>A (p.Gln1964=) c.5931G>A (p.Gln1977=) c.5901G>A (p.Gln1967=) n.2723G>A c.5796G>A (p.Gln1932=) c.5859G>A (p.Gln1953=) c.5799G>A (p.Gln1933=) c.5997G>A (p.Gln1999=) c.5994G>A (p.Gln1998=) | |
2 | g.71679127G>C | CA347226358 | DYSF | c.3369G>C (p.Gln1123His) c.2586G>C (p.Gln862His) c.2694G>C (p.Gln898His) c.5838G>C (p.Gln1946His) c.5955G>C (p.Gln1985His) c.5841G>C (p.Gln1947His) c.5904G>C (p.Gln1968His) c.5952G>C (p.Gln1984His) c.5934G>C (p.Gln1978His) c.5862G>C (p.Gln1954His) c.5889G>C (p.Gln1963His) c.5892G>C (p.Gln1964His) c.5931G>C (p.Gln1977His) c.5901G>C (p.Gln1967His) n.2723G>C c.5796G>C (p.Gln1932His) c.5859G>C (p.Gln1953His) c.5799G>C (p.Gln1933His) c.5997G>C (p.Gln1999His) c.5994G>C (p.Gln1998His) | |
2 | g.71679127G>T | CA347226359 | DYSF | c.3369G>T (p.Gln1123His) c.2586G>T (p.Gln862His) c.2694G>T (p.Gln898His) c.5838G>T (p.Gln1946His) c.5955G>T (p.Gln1985His) c.5841G>T (p.Gln1947His) c.5904G>T (p.Gln1968His) c.5952G>T (p.Gln1984His) c.5934G>T (p.Gln1978His) c.5862G>T (p.Gln1954His) c.5889G>T (p.Gln1963His) c.5892G>T (p.Gln1964His) c.5931G>T (p.Gln1977His) c.5901G>T (p.Gln1967His) n.2723G>T c.5796G>T (p.Gln1932His) c.5859G>T (p.Gln1953His) c.5799G>T (p.Gln1933His) c.5997G>T (p.Gln1999His) c.5994G>T (p.Gln1998His) | |
2 | g.71679128C>A | CA347226360 | DYSF | c.3370C>A (p.Leu1124Met) c.2587C>A (p.Leu863Met) c.2695C>A (p.Leu899Met) c.5839C>A (p.Leu1947Met) c.5956C>A (p.Leu1986Met) c.5842C>A (p.Leu1948Met) c.5905C>A (p.Leu1969Met) c.5953C>A (p.Leu1985Met) c.5935C>A (p.Leu1979Met) c.5863C>A (p.Leu1955Met) c.5890C>A (p.Leu1964Met) c.5893C>A (p.Leu1965Met) c.5932C>A (p.Leu1978Met) c.5902C>A (p.Leu1968Met) n.2724C>A c.5797C>A (p.Leu1933Met) c.5860C>A (p.Leu1954Met) c.5800C>A (p.Leu1934Met) c.5998C>A (p.Leu2000Met) c.5995C>A (p.Leu1999Met) | |
2 | g.71679128C>G | CA347226361 | DYSF | c.3370C>G (p.Leu1124Val) c.2587C>G (p.Leu863Val) c.2695C>G (p.Leu899Val) c.5839C>G (p.Leu1947Val) c.5956C>G (p.Leu1986Val) c.5842C>G (p.Leu1948Val) c.5905C>G (p.Leu1969Val) c.5953C>G (p.Leu1985Val) c.5935C>G (p.Leu1979Val) c.5863C>G (p.Leu1955Val) c.5890C>G (p.Leu1964Val) c.5893C>G (p.Leu1965Val) c.5932C>G (p.Leu1978Val) c.5902C>G (p.Leu1968Val) n.2724C>G c.5797C>G (p.Leu1933Val) c.5860C>G (p.Leu1954Val) c.5800C>G (p.Leu1934Val) c.5998C>G (p.Leu2000Val) c.5995C>G (p.Leu1999Val) | |
2 | g.71679128C>T | CA426704708 | DYSF | c.3370C>T (p.Leu1124=) c.2587C>T (p.Leu863=) c.2695C>T (p.Leu899=) c.5839C>T (p.Leu1947=) c.5956C>T (p.Leu1986=) c.5842C>T (p.Leu1948=) c.5905C>T (p.Leu1969=) c.5953C>T (p.Leu1985=) c.5935C>T (p.Leu1979=) c.5863C>T (p.Leu1955=) c.5890C>T (p.Leu1964=) c.5893C>T (p.Leu1965=) c.5932C>T (p.Leu1978=) c.5902C>T (p.Leu1968=) n.2724C>T c.5797C>T (p.Leu1933=) c.5860C>T (p.Leu1954=) c.5800C>T (p.Leu1934=) c.5998C>T (p.Leu2000=) c.5995C>T (p.Leu1999=) | |
2 | g.71679129T>A | CA347226362 | DYSF | c.3371T>A (p.Leu1124Gln) c.2588T>A (p.Leu863Gln) c.2696T>A (p.Leu899Gln) c.5840T>A (p.Leu1947Gln) c.5957T>A (p.Leu1986Gln) c.5843T>A (p.Leu1948Gln) c.5906T>A (p.Leu1969Gln) c.5954T>A (p.Leu1985Gln) c.5936T>A (p.Leu1979Gln) c.5864T>A (p.Leu1955Gln) c.5891T>A (p.Leu1964Gln) c.5894T>A (p.Leu1965Gln) c.5933T>A (p.Leu1978Gln) c.5903T>A (p.Leu1968Gln) n.2725T>A c.5798T>A (p.Leu1933Gln) c.5861T>A (p.Leu1954Gln) c.5801T>A (p.Leu1934Gln) c.5999T>A (p.Leu2000Gln) c.5996T>A (p.Leu1999Gln) | |
2 | g.71679129T>C | CA347226363 | DYSF | c.3371T>C (p.Leu1124Pro) c.2588T>C (p.Leu863Pro) c.2696T>C (p.Leu899Pro) c.5840T>C (p.Leu1947Pro) c.5957T>C (p.Leu1986Pro) c.5843T>C (p.Leu1948Pro) c.5906T>C (p.Leu1969Pro) c.5954T>C (p.Leu1985Pro) c.5936T>C (p.Leu1979Pro) c.5864T>C (p.Leu1955Pro) c.5891T>C (p.Leu1964Pro) c.5894T>C (p.Leu1965Pro) c.5933T>C (p.Leu1978Pro) c.5903T>C (p.Leu1968Pro) n.2725T>C c.5798T>C (p.Leu1933Pro) c.5861T>C (p.Leu1954Pro) c.5801T>C (p.Leu1934Pro) c.5999T>C (p.Leu2000Pro) c.5996T>C (p.Leu1999Pro) | |
2 | g.71679129T>G | CA347226364 | DYSF | c.3371T>G (p.Leu1124Arg) c.2588T>G (p.Leu863Arg) c.2696T>G (p.Leu899Arg) c.5840T>G (p.Leu1947Arg) c.5957T>G (p.Leu1986Arg) c.5843T>G (p.Leu1948Arg) c.5906T>G (p.Leu1969Arg) c.5954T>G (p.Leu1985Arg) c.5936T>G (p.Leu1979Arg) c.5864T>G (p.Leu1955Arg) c.5891T>G (p.Leu1964Arg) c.5894T>G (p.Leu1965Arg) c.5933T>G (p.Leu1978Arg) c.5903T>G (p.Leu1968Arg) n.2725T>G c.5798T>G (p.Leu1933Arg) c.5861T>G (p.Leu1954Arg) c.5801T>G (p.Leu1934Arg) c.5999T>G (p.Leu2000Arg) c.5996T>G (p.Leu1999Arg) | |
2 | g.71679130G>A | CA426704709 | DYSF | c.3372G>A (p.Leu1124=) c.2589G>A (p.Leu863=) c.2697G>A (p.Leu899=) c.5841G>A (p.Leu1947=) c.5958G>A (p.Leu1986=) c.5844G>A (p.Leu1948=) c.5907G>A (p.Leu1969=) c.5955G>A (p.Leu1985=) c.5937G>A (p.Leu1979=) c.5865G>A (p.Leu1955=) c.5892G>A (p.Leu1964=) c.5895G>A (p.Leu1965=) c.5934G>A (p.Leu1978=) c.5904G>A (p.Leu1968=) n.2726G>A c.5799G>A (p.Leu1933=) c.5862G>A (p.Leu1954=) c.5802G>A (p.Leu1934=) c.6000G>A (p.Leu2000=) c.5997G>A (p.Leu1999=) | ClinVar gnomAD v4 |
2 | g.71679130G>C | CA426704710 | DYSF | c.3372G>C (p.Leu1124=) c.2589G>C (p.Leu863=) c.2697G>C (p.Leu899=) c.5841G>C (p.Leu1947=) c.5958G>C (p.Leu1986=) c.5844G>C (p.Leu1948=) c.5907G>C (p.Leu1969=) c.5955G>C (p.Leu1985=) c.5937G>C (p.Leu1979=) c.5865G>C (p.Leu1955=) c.5892G>C (p.Leu1964=) c.5895G>C (p.Leu1965=) c.5934G>C (p.Leu1978=) c.5904G>C (p.Leu1968=) n.2726G>C c.5799G>C (p.Leu1933=) c.5862G>C (p.Leu1954=) c.5802G>C (p.Leu1934=) c.6000G>C (p.Leu2000=) c.5997G>C (p.Leu1999=) | |
2 | g.71679130G>T | CA426704711 | DYSF | c.3372G>T (p.Leu1124=) c.2589G>T (p.Leu863=) c.2697G>T (p.Leu899=) c.5841G>T (p.Leu1947=) c.5958G>T (p.Leu1986=) c.5844G>T (p.Leu1948=) c.5907G>T (p.Leu1969=) c.5955G>T (p.Leu1985=) c.5937G>T (p.Leu1979=) c.5865G>T (p.Leu1955=) c.5892G>T (p.Leu1964=) c.5895G>T (p.Leu1965=) c.5934G>T (p.Leu1978=) c.5904G>T (p.Leu1968=) n.2726G>T c.5799G>T (p.Leu1933=) c.5862G>T (p.Leu1954=) c.5802G>T (p.Leu1934=) c.6000G>T (p.Leu2000=) c.5997G>T (p.Leu1999=) | |
2 | g.71679131G>A | CA347226367 | DYSF | c.3373G>A (p.Asp1125Asn) c.2590G>A (p.Asp864Asn) c.2698G>A (p.Asp900Asn) c.5842G>A (p.Asp1948Asn) c.5959G>A (p.Asp1987Asn) c.5845G>A (p.Asp1949Asn) c.5908G>A (p.Asp1970Asn) c.5956G>A (p.Asp1986Asn) c.5938G>A (p.Asp1980Asn) c.5866G>A (p.Asp1956Asn) c.5893G>A (p.Asp1965Asn) c.5896G>A (p.Asp1966Asn) c.5935G>A (p.Asp1979Asn) c.5905G>A (p.Asp1969Asn) n.2727G>A c.5800G>A (p.Asp1934Asn) c.5863G>A (p.Asp1955Asn) c.5803G>A (p.Asp1935Asn) c.6001G>A (p.Asp2001Asn) c.5998G>A (p.Asp2000Asn) | |
2 | g.71679131G>C | CA347226366 | DYSF | c.3373G>C (p.Asp1125His) c.2590G>C (p.Asp864His) c.2698G>C (p.Asp900His) c.5842G>C (p.Asp1948His) c.5959G>C (p.Asp1987His) c.5845G>C (p.Asp1949His) c.5908G>C (p.Asp1970His) c.5956G>C (p.Asp1986His) c.5938G>C (p.Asp1980His) c.5866G>C (p.Asp1956His) c.5893G>C (p.Asp1965His) c.5896G>C (p.Asp1966His) c.5935G>C (p.Asp1979His) c.5905G>C (p.Asp1969His) n.2727G>C c.5800G>C (p.Asp1934His) c.5863G>C (p.Asp1955His) c.5803G>C (p.Asp1935His) c.6001G>C (p.Asp2001His) c.5998G>C (p.Asp2000His) | |
2 | g.71679131G= | CA1260156859 | DYSF | c.3373G= (p.Asp1125=) c.2590G= (p.Asp864=) c.2698G= (p.Asp900=) c.5842G= (p.Asp1948=) c.5959G= (p.Asp1987=) c.5845G= (p.Asp1949=) c.5908G= (p.Asp1970=) c.5956G= (p.Asp1986=) c.5938G= (p.Asp1980=) c.5866G= (p.Asp1956=) c.5893G= (p.Asp1965=) c.5896G= (p.Asp1966=) c.5935G= (p.Asp1979=) c.5905G= (p.Asp1969=) n.2727G= c.5800G= (p.Asp1934=) c.5863G= (p.Asp1955=) c.5803G= (p.Asp1935=) c.6001G= (p.Asp2001=) c.5998G= (p.Asp2000=) | |
2 | g.71679131G>T | CA347226365 | DYSF | c.3373G>T (p.Asp1125Tyr) c.2590G>T (p.Asp864Tyr) c.2698G>T (p.Asp900Tyr) c.5842G>T (p.Asp1948Tyr) c.5959G>T (p.Asp1987Tyr) c.5845G>T (p.Asp1949Tyr) c.5908G>T (p.Asp1970Tyr) c.5956G>T (p.Asp1986Tyr) c.5938G>T (p.Asp1980Tyr) c.5866G>T (p.Asp1956Tyr) c.5893G>T (p.Asp1965Tyr) c.5896G>T (p.Asp1966Tyr) c.5935G>T (p.Asp1979Tyr) c.5905G>T (p.Asp1969Tyr) n.2727G>T c.5800G>T (p.Asp1934Tyr) c.5863G>T (p.Asp1955Tyr) c.5803G>T (p.Asp1935Tyr) c.6001G>T (p.Asp2001Tyr) c.5998G>T (p.Asp2000Tyr) | dbSNP gnomAD v4 |
2 | g.71679132A>C | CA347226368 | DYSF | c.3374A>C (p.Asp1125Ala) c.2591A>C (p.Asp864Ala) c.2699A>C (p.Asp900Ala) c.5843A>C (p.Asp1948Ala) c.5960A>C (p.Asp1987Ala) c.5846A>C (p.Asp1949Ala) c.5909A>C (p.Asp1970Ala) c.5957A>C (p.Asp1986Ala) c.5939A>C (p.Asp1980Ala) c.5867A>C (p.Asp1956Ala) c.5894A>C (p.Asp1965Ala) c.5897A>C (p.Asp1966Ala) c.5936A>C (p.Asp1979Ala) c.5906A>C (p.Asp1969Ala) n.2728A>C c.5801A>C (p.Asp1934Ala) c.5864A>C (p.Asp1955Ala) c.5804A>C (p.Asp1935Ala) c.6002A>C (p.Asp2001Ala) c.5999A>C (p.Asp2000Ala) | |
2 | g.71679132A>G | CA347226369 | DYSF | c.3374A>G (p.Asp1125Gly) c.2591A>G (p.Asp864Gly) c.2699A>G (p.Asp900Gly) c.5843A>G (p.Asp1948Gly) c.5960A>G (p.Asp1987Gly) c.5846A>G (p.Asp1949Gly) c.5909A>G (p.Asp1970Gly) c.5957A>G (p.Asp1986Gly) c.5939A>G (p.Asp1980Gly) c.5867A>G (p.Asp1956Gly) c.5894A>G (p.Asp1965Gly) c.5897A>G (p.Asp1966Gly) c.5936A>G (p.Asp1979Gly) c.5906A>G (p.Asp1969Gly) n.2728A>G c.5801A>G (p.Asp1934Gly) c.5864A>G (p.Asp1955Gly) c.5804A>G (p.Asp1935Gly) c.6002A>G (p.Asp2001Gly) c.5999A>G (p.Asp2000Gly) | |
2 | g.71679132A>T | CA347226370 | DYSF | c.3374A>T (p.Asp1125Val) c.2591A>T (p.Asp864Val) c.2699A>T (p.Asp900Val) c.5843A>T (p.Asp1948Val) c.5960A>T (p.Asp1987Val) c.5846A>T (p.Asp1949Val) c.5909A>T (p.Asp1970Val) c.5957A>T (p.Asp1986Val) c.5939A>T (p.Asp1980Val) c.5867A>T (p.Asp1956Val) c.5894A>T (p.Asp1965Val) c.5897A>T (p.Asp1966Val) c.5936A>T (p.Asp1979Val) c.5906A>T (p.Asp1969Val) n.2728A>T c.5801A>T (p.Asp1934Val) c.5864A>T (p.Asp1955Val) c.5804A>T (p.Asp1935Val) c.6002A>T (p.Asp2001Val) c.5999A>T (p.Asp2000Val) | |
2 | g.71679133T>A | CA347226371 | DYSF | c.3375T>A (p.Asp1125Glu) c.2592T>A (p.Asp864Glu) c.2700T>A (p.Asp900Glu) c.5844T>A (p.Asp1948Glu) c.5961T>A (p.Asp1987Glu) c.5847T>A (p.Asp1949Glu) c.5910T>A (p.Asp1970Glu) c.5958T>A (p.Asp1986Glu) c.5940T>A (p.Asp1980Glu) c.5868T>A (p.Asp1956Glu) c.5895T>A (p.Asp1965Glu) c.5898T>A (p.Asp1966Glu) c.5937T>A (p.Asp1979Glu) c.5907T>A (p.Asp1969Glu) n.2729T>A c.5802T>A (p.Asp1934Glu) c.5865T>A (p.Asp1955Glu) c.5805T>A (p.Asp1935Glu) c.6003T>A (p.Asp2001Glu) c.6000T>A (p.Asp2000Glu) | gnomAD v4 |
2 | g.71679133T>C | CA426704712 | DYSF | c.3375T>C (p.Asp1125=) c.2592T>C (p.Asp864=) c.2700T>C (p.Asp900=) c.5844T>C (p.Asp1948=) c.5961T>C (p.Asp1987=) c.5847T>C (p.Asp1949=) c.5910T>C (p.Asp1970=) c.5958T>C (p.Asp1986=) c.5940T>C (p.Asp1980=) c.5868T>C (p.Asp1956=) c.5895T>C (p.Asp1965=) c.5898T>C (p.Asp1966=) c.5937T>C (p.Asp1979=) c.5907T>C (p.Asp1969=) n.2729T>C c.5802T>C (p.Asp1934=) c.5865T>C (p.Asp1955=) c.5805T>C (p.Asp1935=) c.6003T>C (p.Asp2001=) c.6000T>C (p.Asp2000=) | |
2 | g.71679133T>G | CA347226372 | DYSF | c.3375T>G (p.Asp1125Glu) c.2592T>G (p.Asp864Glu) c.2700T>G (p.Asp900Glu) c.5844T>G (p.Asp1948Glu) c.5961T>G (p.Asp1987Glu) c.5847T>G (p.Asp1949Glu) c.5910T>G (p.Asp1970Glu) c.5958T>G (p.Asp1986Glu) c.5940T>G (p.Asp1980Glu) c.5868T>G (p.Asp1956Glu) c.5895T>G (p.Asp1965Glu) c.5898T>G (p.Asp1966Glu) c.5937T>G (p.Asp1979Glu) c.5907T>G (p.Asp1969Glu) n.2729T>G c.5802T>G (p.Asp1934Glu) c.5865T>G (p.Asp1955Glu) c.5805T>G (p.Asp1935Glu) c.6003T>G (p.Asp2001Glu) c.6000T>G (p.Asp2000Glu) | |
2 | g.71679134G>A | CA347226373 | DYSF | c.3376G>A (p.Asp1126Asn) c.2593G>A (p.Asp865Asn) c.2701G>A (p.Asp901Asn) c.5845G>A (p.Asp1949Asn) c.5962G>A (p.Asp1988Asn) c.5848G>A (p.Asp1950Asn) c.5911G>A (p.Asp1971Asn) c.5959G>A (p.Asp1987Asn) c.5941G>A (p.Asp1981Asn) c.5869G>A (p.Asp1957Asn) c.5896G>A (p.Asp1966Asn) c.5899G>A (p.Asp1967Asn) c.5938G>A (p.Asp1980Asn) c.5908G>A (p.Asp1970Asn) n.2730G>A c.5803G>A (p.Asp1935Asn) c.5866G>A (p.Asp1956Asn) c.5806G>A (p.Asp1936Asn) c.6004G>A (p.Asp2002Asn) c.6001G>A (p.Asp2001Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679134G>C | CA347226374 | DYSF | c.3376G>C (p.Asp1126His) c.2593G>C (p.Asp865His) c.2701G>C (p.Asp901His) c.5845G>C (p.Asp1949His) c.5962G>C (p.Asp1988His) c.5848G>C (p.Asp1950His) c.5911G>C (p.Asp1971His) c.5959G>C (p.Asp1987His) c.5941G>C (p.Asp1981His) c.5869G>C (p.Asp1957His) c.5896G>C (p.Asp1966His) c.5899G>C (p.Asp1967His) c.5938G>C (p.Asp1980His) c.5908G>C (p.Asp1970His) n.2730G>C c.5803G>C (p.Asp1935His) c.5866G>C (p.Asp1956His) c.5806G>C (p.Asp1936His) c.6004G>C (p.Asp2002His) c.6001G>C (p.Asp2001His) | |
2 | g.71679134G= | CA1260156860 | DYSF | c.3376G= (p.Asp1126=) c.2593G= (p.Asp865=) c.2701G= (p.Asp901=) c.5845G= (p.Asp1949=) c.5962G= (p.Asp1988=) c.5848G= (p.Asp1950=) c.5911G= (p.Asp1971=) c.5959G= (p.Asp1987=) c.5941G= (p.Asp1981=) c.5869G= (p.Asp1957=) c.5896G= (p.Asp1966=) c.5899G= (p.Asp1967=) c.5938G= (p.Asp1980=) c.5908G= (p.Asp1970=) n.2730G= c.5803G= (p.Asp1935=) c.5866G= (p.Asp1956=) c.5806G= (p.Asp1936=) c.6004G= (p.Asp2002=) c.6001G= (p.Asp2001=) | |
2 | g.71679134G>T | CA347226375 | DYSF | c.3376G>T (p.Asp1126Tyr) c.2593G>T (p.Asp865Tyr) c.2701G>T (p.Asp901Tyr) c.5845G>T (p.Asp1949Tyr) c.5962G>T (p.Asp1988Tyr) c.5848G>T (p.Asp1950Tyr) c.5911G>T (p.Asp1971Tyr) c.5959G>T (p.Asp1987Tyr) c.5941G>T (p.Asp1981Tyr) c.5869G>T (p.Asp1957Tyr) c.5896G>T (p.Asp1966Tyr) c.5899G>T (p.Asp1967Tyr) c.5938G>T (p.Asp1980Tyr) c.5908G>T (p.Asp1970Tyr) n.2730G>T c.5803G>T (p.Asp1935Tyr) c.5866G>T (p.Asp1956Tyr) c.5806G>T (p.Asp1936Tyr) c.6004G>T (p.Asp2002Tyr) c.6001G>T (p.Asp2001Tyr) | |
2 | g.71679135A>C | CA347226376 | DYSF | c.3377A>C (p.Asp1126Ala) c.2594A>C (p.Asp865Ala) c.2702A>C (p.Asp901Ala) c.5846A>C (p.Asp1949Ala) c.5963A>C (p.Asp1988Ala) c.5849A>C (p.Asp1950Ala) c.5912A>C (p.Asp1971Ala) c.5960A>C (p.Asp1987Ala) c.5942A>C (p.Asp1981Ala) c.5870A>C (p.Asp1957Ala) c.5897A>C (p.Asp1966Ala) c.5900A>C (p.Asp1967Ala) c.5939A>C (p.Asp1980Ala) c.5909A>C (p.Asp1970Ala) n.2731A>C c.5804A>C (p.Asp1935Ala) c.5867A>C (p.Asp1956Ala) c.5807A>C (p.Asp1936Ala) c.6005A>C (p.Asp2002Ala) c.6002A>C (p.Asp2001Ala) | |
2 | g.71679135A>G | CA347226377 | DYSF | c.3377A>G (p.Asp1126Gly) c.2594A>G (p.Asp865Gly) c.2702A>G (p.Asp901Gly) c.5846A>G (p.Asp1949Gly) c.5963A>G (p.Asp1988Gly) c.5849A>G (p.Asp1950Gly) c.5912A>G (p.Asp1971Gly) c.5960A>G (p.Asp1987Gly) c.5942A>G (p.Asp1981Gly) c.5870A>G (p.Asp1957Gly) c.5897A>G (p.Asp1966Gly) c.5900A>G (p.Asp1967Gly) c.5939A>G (p.Asp1980Gly) c.5909A>G (p.Asp1970Gly) n.2731A>G c.5804A>G (p.Asp1935Gly) c.5867A>G (p.Asp1956Gly) c.5807A>G (p.Asp1936Gly) c.6005A>G (p.Asp2002Gly) c.6002A>G (p.Asp2001Gly) | |
2 | g.71679135A>T | CA347226378 | DYSF | c.3377A>T (p.Asp1126Val) c.2594A>T (p.Asp865Val) c.2702A>T (p.Asp901Val) c.5846A>T (p.Asp1949Val) c.5963A>T (p.Asp1988Val) c.5849A>T (p.Asp1950Val) c.5912A>T (p.Asp1971Val) c.5960A>T (p.Asp1987Val) c.5942A>T (p.Asp1981Val) c.5870A>T (p.Asp1957Val) c.5897A>T (p.Asp1966Val) c.5900A>T (p.Asp1967Val) c.5939A>T (p.Asp1980Val) c.5909A>T (p.Asp1970Val) n.2731A>T c.5804A>T (p.Asp1935Val) c.5867A>T (p.Asp1956Val) c.5807A>T (p.Asp1936Val) c.6005A>T (p.Asp2002Val) c.6002A>T (p.Asp2001Val) | |
2 | g.71679136T>A | CA347226379 | DYSF | c.3378T>A (p.Asp1126Glu) c.2595T>A (p.Asp865Glu) c.2703T>A (p.Asp901Glu) c.5847T>A (p.Asp1949Glu) c.5964T>A (p.Asp1988Glu) c.5850T>A (p.Asp1950Glu) c.5913T>A (p.Asp1971Glu) c.5961T>A (p.Asp1987Glu) c.5943T>A (p.Asp1981Glu) c.5871T>A (p.Asp1957Glu) c.5898T>A (p.Asp1966Glu) c.5901T>A (p.Asp1967Glu) c.5940T>A (p.Asp1980Glu) c.5910T>A (p.Asp1970Glu) n.2732T>A c.5805T>A (p.Asp1935Glu) c.5868T>A (p.Asp1956Glu) c.5808T>A (p.Asp1936Glu) c.6006T>A (p.Asp2002Glu) c.6003T>A (p.Asp2001Glu) | gnomAD v4 |
2 | g.71679136T>C | CA426704713 | DYSF | c.3378T>C (p.Asp1126=) c.2595T>C (p.Asp865=) c.2703T>C (p.Asp901=) c.5847T>C (p.Asp1949=) c.5964T>C (p.Asp1988=) c.5850T>C (p.Asp1950=) c.5913T>C (p.Asp1971=) c.5961T>C (p.Asp1987=) c.5943T>C (p.Asp1981=) c.5871T>C (p.Asp1957=) c.5898T>C (p.Asp1966=) c.5901T>C (p.Asp1967=) c.5940T>C (p.Asp1980=) c.5910T>C (p.Asp1970=) n.2732T>C c.5805T>C (p.Asp1935=) c.5868T>C (p.Asp1956=) c.5808T>C (p.Asp1936=) c.6006T>C (p.Asp2002=) c.6003T>C (p.Asp2001=) | ClinVar |
2 | g.71679136T>G | CA347226380 | DYSF | c.3378T>G (p.Asp1126Glu) c.2595T>G (p.Asp865Glu) c.2703T>G (p.Asp901Glu) c.5847T>G (p.Asp1949Glu) c.5964T>G (p.Asp1988Glu) c.5850T>G (p.Asp1950Glu) c.5913T>G (p.Asp1971Glu) c.5961T>G (p.Asp1987Glu) c.5943T>G (p.Asp1981Glu) c.5871T>G (p.Asp1957Glu) c.5898T>G (p.Asp1966Glu) c.5901T>G (p.Asp1967Glu) c.5940T>G (p.Asp1980Glu) c.5910T>G (p.Asp1970Glu) n.2732T>G c.5805T>G (p.Asp1935Glu) c.5868T>G (p.Asp1956Glu) c.5808T>G (p.Asp1936Glu) c.6006T>G (p.Asp2002Glu) c.6003T>G (p.Asp2001Glu) | |
2 | g.71679136_71679137delinsTG | CA1260156861 | DYSF | c.3378_3379delinsTG (p.Asp1126=) c.2595_2596delinsTG (p.Asp865=) c.2703_2704delinsTG (p.Asp901=) c.5847_5848delinsTG (p.Asp1949=) c.5964_5965delinsTG (p.Asp1988=) c.5850_5851delinsTG (p.Asp1950=) c.5913_5914delinsTG (p.Asp1971=) c.5961_5962delinsTG (p.Asp1987=) c.5943_5944delinsTG (p.Asp1981=) c.5871_5872delinsTG (p.Asp1957=) c.5898_5899delinsTG (p.Asp1966=) c.5901_5902delinsTG (p.Asp1967=) c.5940_5941delinsTG (p.Asp1980=) c.5910_5911delinsTG (p.Asp1970=) n.2732_2733delinsTG c.5805_5806delinsTG (p.Asp1935=) c.5868_5869delinsTG (p.Asp1956=) c.5808_5809delinsTG (p.Asp1936=) c.6006_6007delinsTG (p.Asp2002=) c.6003_6004delinsTG (p.Asp2001=) | |
2 | g.71679137del | CA1707557 | DYSF | c.3379del (p.Ala1127LeufsTer16) c.2596del (p.Ala866LeufsTer16) c.2704del (p.Ala902LeufsTer16) c.5848del (p.Ala1950LeufsTer16) c.5965del (p.Ala1989LeufsTer16) c.5851del (p.Ala1951LeufsTer16) c.5914del (p.Ala1972LeufsTer16) c.5962del (p.Ala1988LeufsTer16) c.5944del (p.Ala1982LeufsTer16) c.5872del (p.Ala1958LeufsTer16) c.5899del (p.Ala1967LeufsTer16) c.5902del (p.Ala1968LeufsTer16) c.5941del (p.Ala1981LeufsTer16) c.5911del (p.Ala1971LeufsTer16) n.2733del c.5806del (p.Ala1936LeufsTer16) c.5869del (p.Ala1957LeufsTer16) c.5809del (p.Ala1937LeufsTer16) c.6007del (p.Ala2003LeufsTer16) c.6004del (p.Ala2002LeufsTer16) | dbSNP ExAC |
2 | g.71679137G>A | CA347226381 | DYSF | c.3379G>A (p.Ala1127Thr) c.2596G>A (p.Ala866Thr) c.2704G>A (p.Ala902Thr) c.5848G>A (p.Ala1950Thr) c.5965G>A (p.Ala1989Thr) c.5851G>A (p.Ala1951Thr) c.5914G>A (p.Ala1972Thr) c.5962G>A (p.Ala1988Thr) c.5944G>A (p.Ala1982Thr) c.5872G>A (p.Ala1958Thr) c.5899G>A (p.Ala1967Thr) c.5902G>A (p.Ala1968Thr) c.5941G>A (p.Ala1981Thr) c.5911G>A (p.Ala1971Thr) n.2733G>A c.5806G>A (p.Ala1936Thr) c.5869G>A (p.Ala1957Thr) c.5809G>A (p.Ala1937Thr) c.6007G>A (p.Ala2003Thr) c.6004G>A (p.Ala2002Thr) | |
2 | g.71679137G>C | CA347226382 | DYSF | c.3379G>C (p.Ala1127Pro) c.2596G>C (p.Ala866Pro) c.2704G>C (p.Ala902Pro) c.5848G>C (p.Ala1950Pro) c.5965G>C (p.Ala1989Pro) c.5851G>C (p.Ala1951Pro) c.5914G>C (p.Ala1972Pro) c.5962G>C (p.Ala1988Pro) c.5944G>C (p.Ala1982Pro) c.5872G>C (p.Ala1958Pro) c.5899G>C (p.Ala1967Pro) c.5902G>C (p.Ala1968Pro) c.5941G>C (p.Ala1981Pro) c.5911G>C (p.Ala1971Pro) n.2733G>C c.5806G>C (p.Ala1936Pro) c.5869G>C (p.Ala1957Pro) c.5809G>C (p.Ala1937Pro) c.6007G>C (p.Ala2003Pro) c.6004G>C (p.Ala2002Pro) | |
2 | g.71679137G>T | CA347226383 | DYSF | c.3379G>T (p.Ala1127Ser) c.2596G>T (p.Ala866Ser) c.2704G>T (p.Ala902Ser) c.5848G>T (p.Ala1950Ser) c.5965G>T (p.Ala1989Ser) c.5851G>T (p.Ala1951Ser) c.5914G>T (p.Ala1972Ser) c.5962G>T (p.Ala1988Ser) c.5944G>T (p.Ala1982Ser) c.5872G>T (p.Ala1958Ser) c.5899G>T (p.Ala1967Ser) c.5902G>T (p.Ala1968Ser) c.5941G>T (p.Ala1981Ser) c.5911G>T (p.Ala1971Ser) n.2733G>T c.5806G>T (p.Ala1936Ser) c.5869G>T (p.Ala1957Ser) c.5809G>T (p.Ala1937Ser) c.6007G>T (p.Ala2003Ser) c.6004G>T (p.Ala2002Ser) | |
2 | g.71679138C>A | CA347226384 | DYSF | c.3380C>A (p.Ala1127Asp) c.2597C>A (p.Ala866Asp) c.2705C>A (p.Ala902Asp) c.5849C>A (p.Ala1950Asp) c.5966C>A (p.Ala1989Asp) c.5852C>A (p.Ala1951Asp) c.5915C>A (p.Ala1972Asp) c.5963C>A (p.Ala1988Asp) c.5945C>A (p.Ala1982Asp) c.5873C>A (p.Ala1958Asp) c.5900C>A (p.Ala1967Asp) c.5903C>A (p.Ala1968Asp) c.5942C>A (p.Ala1981Asp) c.5912C>A (p.Ala1971Asp) n.2734C>A c.5807C>A (p.Ala1936Asp) c.5870C>A (p.Ala1957Asp) c.5810C>A (p.Ala1937Asp) c.6008C>A (p.Ala2003Asp) c.6005C>A (p.Ala2002Asp) | |
2 | g.71679138C>G | CA347226385 | DYSF | c.3380C>G (p.Ala1127Gly) c.2597C>G (p.Ala866Gly) c.2705C>G (p.Ala902Gly) c.5849C>G (p.Ala1950Gly) c.5966C>G (p.Ala1989Gly) c.5852C>G (p.Ala1951Gly) c.5915C>G (p.Ala1972Gly) c.5963C>G (p.Ala1988Gly) c.5945C>G (p.Ala1982Gly) c.5873C>G (p.Ala1958Gly) c.5900C>G (p.Ala1967Gly) c.5903C>G (p.Ala1968Gly) c.5942C>G (p.Ala1981Gly) c.5912C>G (p.Ala1971Gly) n.2734C>G c.5807C>G (p.Ala1936Gly) c.5870C>G (p.Ala1957Gly) c.5810C>G (p.Ala1937Gly) c.6008C>G (p.Ala2003Gly) c.6005C>G (p.Ala2002Gly) | gnomAD v4 |
2 | g.71679138C>T | CA347226386 | DYSF | c.3380C>T (p.Ala1127Val) c.2597C>T (p.Ala866Val) c.2705C>T (p.Ala902Val) c.5849C>T (p.Ala1950Val) c.5966C>T (p.Ala1989Val) c.5852C>T (p.Ala1951Val) c.5915C>T (p.Ala1972Val) c.5963C>T (p.Ala1988Val) c.5945C>T (p.Ala1982Val) c.5873C>T (p.Ala1958Val) c.5900C>T (p.Ala1967Val) c.5903C>T (p.Ala1968Val) c.5942C>T (p.Ala1981Val) c.5912C>T (p.Ala1971Val) n.2734C>T c.5807C>T (p.Ala1936Val) c.5870C>T (p.Ala1957Val) c.5810C>T (p.Ala1937Val) c.6008C>T (p.Ala2003Val) c.6005C>T (p.Ala2002Val) | |
2 | g.71679139T>A | CA426704714 | DYSF | c.3381T>A (p.Ala1127=) c.2598T>A (p.Ala866=) c.2706T>A (p.Ala902=) c.5850T>A (p.Ala1950=) c.5967T>A (p.Ala1989=) c.5853T>A (p.Ala1951=) c.5916T>A (p.Ala1972=) c.5964T>A (p.Ala1988=) c.5946T>A (p.Ala1982=) c.5874T>A (p.Ala1958=) c.5901T>A (p.Ala1967=) c.5904T>A (p.Ala1968=) c.5943T>A (p.Ala1981=) c.5913T>A (p.Ala1971=) n.2735T>A c.5808T>A (p.Ala1936=) c.5871T>A (p.Ala1957=) c.5811T>A (p.Ala1937=) c.6009T>A (p.Ala2003=) c.6006T>A (p.Ala2002=) | |
2 | g.71679139T>C | CA426704715 | DYSF | c.3381T>C (p.Ala1127=) c.2598T>C (p.Ala866=) c.2706T>C (p.Ala902=) c.5850T>C (p.Ala1950=) c.5967T>C (p.Ala1989=) c.5853T>C (p.Ala1951=) c.5916T>C (p.Ala1972=) c.5964T>C (p.Ala1988=) c.5946T>C (p.Ala1982=) c.5874T>C (p.Ala1958=) c.5901T>C (p.Ala1967=) c.5904T>C (p.Ala1968=) c.5943T>C (p.Ala1981=) c.5913T>C (p.Ala1971=) n.2735T>C c.5808T>C (p.Ala1936=) c.5871T>C (p.Ala1957=) c.5811T>C (p.Ala1937=) c.6009T>C (p.Ala2003=) c.6006T>C (p.Ala2002=) | ClinVar dbSNP |
2 | g.71679139T>G | CA426704716 | DYSF | c.3381T>G (p.Ala1127=) c.2598T>G (p.Ala866=) c.2706T>G (p.Ala902=) c.5850T>G (p.Ala1950=) c.5967T>G (p.Ala1989=) c.5853T>G (p.Ala1951=) c.5916T>G (p.Ala1972=) c.5964T>G (p.Ala1988=) c.5946T>G (p.Ala1982=) c.5874T>G (p.Ala1958=) c.5901T>G (p.Ala1967=) c.5904T>G (p.Ala1968=) c.5943T>G (p.Ala1981=) c.5913T>G (p.Ala1971=) n.2735T>G c.5808T>G (p.Ala1936=) c.5871T>G (p.Ala1957=) c.5811T>G (p.Ala1937=) c.6009T>G (p.Ala2003=) c.6006T>G (p.Ala2002=) | |
2 | g.71679140T>A | CA1707558 | DYSF | c.3382T>A (p.Phe1128Ile) c.2599T>A (p.Phe867Ile) c.2707T>A (p.Phe903Ile) c.5851T>A (p.Phe1951Ile) c.5968T>A (p.Phe1990Ile) c.5854T>A (p.Phe1952Ile) c.5917T>A (p.Phe1973Ile) c.5965T>A (p.Phe1989Ile) c.5947T>A (p.Phe1983Ile) c.5875T>A (p.Phe1959Ile) c.5902T>A (p.Phe1968Ile) c.5905T>A (p.Phe1969Ile) c.5944T>A (p.Phe1982Ile) c.5914T>A (p.Phe1972Ile) n.2736T>A c.5809T>A (p.Phe1937Ile) c.5872T>A (p.Phe1958Ile) c.5812T>A (p.Phe1938Ile) c.6010T>A (p.Phe2004Ile) c.6007T>A (p.Phe2003Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71679140T>C | CA347226387 | DYSF | c.3382T>C (p.Phe1128Leu) c.2599T>C (p.Phe867Leu) c.2707T>C (p.Phe903Leu) c.5851T>C (p.Phe1951Leu) c.5968T>C (p.Phe1990Leu) c.5854T>C (p.Phe1952Leu) c.5917T>C (p.Phe1973Leu) c.5965T>C (p.Phe1989Leu) c.5947T>C (p.Phe1983Leu) c.5875T>C (p.Phe1959Leu) c.5902T>C (p.Phe1968Leu) c.5905T>C (p.Phe1969Leu) c.5944T>C (p.Phe1982Leu) c.5914T>C (p.Phe1972Leu) n.2736T>C c.5809T>C (p.Phe1937Leu) c.5872T>C (p.Phe1958Leu) c.5812T>C (p.Phe1938Leu) c.6010T>C (p.Phe2004Leu) c.6007T>C (p.Phe2003Leu) | |
2 | g.71679140T>G | CA347226388 | DYSF | c.3382T>G (p.Phe1128Val) c.2599T>G (p.Phe867Val) c.2707T>G (p.Phe903Val) c.5851T>G (p.Phe1951Val) c.5968T>G (p.Phe1990Val) c.5854T>G (p.Phe1952Val) c.5917T>G (p.Phe1973Val) c.5965T>G (p.Phe1989Val) c.5947T>G (p.Phe1983Val) c.5875T>G (p.Phe1959Val) c.5902T>G (p.Phe1968Val) c.5905T>G (p.Phe1969Val) c.5944T>G (p.Phe1982Val) c.5914T>G (p.Phe1972Val) n.2736T>G c.5809T>G (p.Phe1937Val) c.5872T>G (p.Phe1958Val) c.5812T>G (p.Phe1938Val) c.6010T>G (p.Phe2004Val) c.6007T>G (p.Phe2003Val) | |
2 | g.71679140T= | CA1260156862 | DYSF | c.3382T= (p.Phe1128=) c.2599T= (p.Phe867=) c.2707T= (p.Phe903=) c.5851T= (p.Phe1951=) c.5968T= (p.Phe1990=) c.5854T= (p.Phe1952=) c.5917T= (p.Phe1973=) c.5965T= (p.Phe1989=) c.5947T= (p.Phe1983=) c.5875T= (p.Phe1959=) c.5902T= (p.Phe1968=) c.5905T= (p.Phe1969=) c.5944T= (p.Phe1982=) c.5914T= (p.Phe1972=) n.2736T= c.5809T= (p.Phe1937=) c.5872T= (p.Phe1958=) c.5812T= (p.Phe1938=) c.6010T= (p.Phe2004=) c.6007T= (p.Phe2003=) | |
2 | g.71679141T>A | CA347226389 | DYSF | c.3383T>A (p.Phe1128Tyr) c.2600T>A (p.Phe867Tyr) c.2708T>A (p.Phe903Tyr) c.5852T>A (p.Phe1951Tyr) c.5969T>A (p.Phe1990Tyr) c.5855T>A (p.Phe1952Tyr) c.5918T>A (p.Phe1973Tyr) c.5966T>A (p.Phe1989Tyr) c.5948T>A (p.Phe1983Tyr) c.5876T>A (p.Phe1959Tyr) c.5903T>A (p.Phe1968Tyr) c.5906T>A (p.Phe1969Tyr) c.5945T>A (p.Phe1982Tyr) c.5915T>A (p.Phe1972Tyr) n.2737T>A c.5810T>A (p.Phe1937Tyr) c.5873T>A (p.Phe1958Tyr) c.5813T>A (p.Phe1938Tyr) c.6011T>A (p.Phe2004Tyr) c.6008T>A (p.Phe2003Tyr) | |
2 | g.71679141T>C | CA347226390 | DYSF | c.3383T>C (p.Phe1128Ser) c.2600T>C (p.Phe867Ser) c.2708T>C (p.Phe903Ser) c.5852T>C (p.Phe1951Ser) c.5969T>C (p.Phe1990Ser) c.5855T>C (p.Phe1952Ser) c.5918T>C (p.Phe1973Ser) c.5966T>C (p.Phe1989Ser) c.5948T>C (p.Phe1983Ser) c.5876T>C (p.Phe1959Ser) c.5903T>C (p.Phe1968Ser) c.5906T>C (p.Phe1969Ser) c.5945T>C (p.Phe1982Ser) c.5915T>C (p.Phe1972Ser) n.2737T>C c.5810T>C (p.Phe1937Ser) c.5873T>C (p.Phe1958Ser) c.5813T>C (p.Phe1938Ser) c.6011T>C (p.Phe2004Ser) c.6008T>C (p.Phe2003Ser) | gnomAD v4 |
2 | g.71679141T>G | CA347226391 | DYSF | c.3383T>G (p.Phe1128Cys) c.2600T>G (p.Phe867Cys) c.2708T>G (p.Phe903Cys) c.5852T>G (p.Phe1951Cys) c.5969T>G (p.Phe1990Cys) c.5855T>G (p.Phe1952Cys) c.5918T>G (p.Phe1973Cys) c.5966T>G (p.Phe1989Cys) c.5948T>G (p.Phe1983Cys) c.5876T>G (p.Phe1959Cys) c.5903T>G (p.Phe1968Cys) c.5906T>G (p.Phe1969Cys) c.5945T>G (p.Phe1982Cys) c.5915T>G (p.Phe1972Cys) n.2737T>G c.5810T>G (p.Phe1937Cys) c.5873T>G (p.Phe1958Cys) c.5813T>G (p.Phe1938Cys) c.6011T>G (p.Phe2004Cys) c.6008T>G (p.Phe2003Cys) | |
2 | g.71679142C>A | CA347226392 | DYSF | c.3384C>A (p.Phe1128Leu) c.2601C>A (p.Phe867Leu) c.2709C>A (p.Phe903Leu) c.5853C>A (p.Phe1951Leu) c.5970C>A (p.Phe1990Leu) c.5856C>A (p.Phe1952Leu) c.5919C>A (p.Phe1973Leu) c.5967C>A (p.Phe1989Leu) c.5949C>A (p.Phe1983Leu) c.5877C>A (p.Phe1959Leu) c.5904C>A (p.Phe1968Leu) c.5907C>A (p.Phe1969Leu) c.5946C>A (p.Phe1982Leu) c.5916C>A (p.Phe1972Leu) n.2738C>A c.5811C>A (p.Phe1937Leu) c.5874C>A (p.Phe1958Leu) c.5814C>A (p.Phe1938Leu) c.6012C>A (p.Phe2004Leu) c.6009C>A (p.Phe2003Leu) | |
2 | g.71679142C>G | CA347226393 | DYSF | c.3384C>G (p.Phe1128Leu) c.2601C>G (p.Phe867Leu) c.2709C>G (p.Phe903Leu) c.5853C>G (p.Phe1951Leu) c.5970C>G (p.Phe1990Leu) c.5856C>G (p.Phe1952Leu) c.5919C>G (p.Phe1973Leu) c.5967C>G (p.Phe1989Leu) c.5949C>G (p.Phe1983Leu) c.5877C>G (p.Phe1959Leu) c.5904C>G (p.Phe1968Leu) c.5907C>G (p.Phe1969Leu) c.5946C>G (p.Phe1982Leu) c.5916C>G (p.Phe1972Leu) n.2738C>G c.5811C>G (p.Phe1937Leu) c.5874C>G (p.Phe1958Leu) c.5814C>G (p.Phe1938Leu) c.6012C>G (p.Phe2004Leu) c.6009C>G (p.Phe2003Leu) | |
2 | g.71679142C>T | CA426704717 | DYSF | c.3384C>T (p.Phe1128=) c.2601C>T (p.Phe867=) c.2709C>T (p.Phe903=) c.5853C>T (p.Phe1951=) c.5970C>T (p.Phe1990=) c.5856C>T (p.Phe1952=) c.5919C>T (p.Phe1973=) c.5967C>T (p.Phe1989=) c.5949C>T (p.Phe1983=) c.5877C>T (p.Phe1959=) c.5904C>T (p.Phe1968=) c.5907C>T (p.Phe1969=) c.5946C>T (p.Phe1982=) c.5916C>T (p.Phe1972=) n.2738C>T c.5811C>T (p.Phe1937=) c.5874C>T (p.Phe1958=) c.5814C>T (p.Phe1938=) c.6012C>T (p.Phe2004=) c.6009C>T (p.Phe2003=) | |
2 | g.71679143C>A | CA347226396 | DYSF | c.3385C>A (p.His1129Asn) c.2602C>A (p.His868Asn) c.2710C>A (p.His904Asn) c.5854C>A (p.His1952Asn) c.5971C>A (p.His1991Asn) c.5857C>A (p.His1953Asn) c.5920C>A (p.His1974Asn) c.5968C>A (p.His1990Asn) c.5950C>A (p.His1984Asn) c.5878C>A (p.His1960Asn) c.5905C>A (p.His1969Asn) c.5908C>A (p.His1970Asn) c.5947C>A (p.His1983Asn) c.5917C>A (p.His1973Asn) n.2739C>A c.5812C>A (p.His1938Asn) c.5875C>A (p.His1959Asn) c.5815C>A (p.His1939Asn) c.6013C>A (p.His2005Asn) c.6010C>A (p.His2004Asn) | |
2 | g.71679143C= | CA1260156863 | DYSF | c.3385C= (p.His1129=) c.2602C= (p.His868=) c.2710C= (p.His904=) c.5854C= (p.His1952=) c.5971C= (p.His1991=) c.5857C= (p.His1953=) c.5920C= (p.His1974=) c.5968C= (p.His1990=) c.5950C= (p.His1984=) c.5878C= (p.His1960=) c.5905C= (p.His1969=) c.5908C= (p.His1970=) c.5947C= (p.His1983=) c.5917C= (p.His1973=) n.2739C= c.5812C= (p.His1938=) c.5875C= (p.His1959=) c.5815C= (p.His1939=) c.6013C= (p.His2005=) c.6010C= (p.His2004=) | |
2 | g.71679143C>G | CA347226394 | DYSF | c.3385C>G (p.His1129Asp) c.2602C>G (p.His868Asp) c.2710C>G (p.His904Asp) c.5854C>G (p.His1952Asp) c.5971C>G (p.His1991Asp) c.5857C>G (p.His1953Asp) c.5920C>G (p.His1974Asp) c.5968C>G (p.His1990Asp) c.5950C>G (p.His1984Asp) c.5878C>G (p.His1960Asp) c.5905C>G (p.His1969Asp) c.5908C>G (p.His1970Asp) c.5947C>G (p.His1983Asp) c.5917C>G (p.His1973Asp) n.2739C>G c.5812C>G (p.His1938Asp) c.5875C>G (p.His1959Asp) c.5815C>G (p.His1939Asp) c.6013C>G (p.His2005Asp) c.6010C>G (p.His2004Asp) | |
2 | g.71679143C>T | CA347226395 | DYSF | c.3385C>T (p.His1129Tyr) c.2602C>T (p.His868Tyr) c.2710C>T (p.His904Tyr) c.5854C>T (p.His1952Tyr) c.5971C>T (p.His1991Tyr) c.5857C>T (p.His1953Tyr) c.5920C>T (p.His1974Tyr) c.5968C>T (p.His1990Tyr) c.5950C>T (p.His1984Tyr) c.5878C>T (p.His1960Tyr) c.5905C>T (p.His1969Tyr) c.5908C>T (p.His1970Tyr) c.5947C>T (p.His1983Tyr) c.5917C>T (p.His1973Tyr) n.2739C>T c.5812C>T (p.His1938Tyr) c.5875C>T (p.His1959Tyr) c.5815C>T (p.His1939Tyr) c.6013C>T (p.His2005Tyr) c.6010C>T (p.His2004Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71679144A>C | CA347226397 | DYSF | c.3386A>C (p.His1129Pro) c.2603A>C (p.His868Pro) c.2711A>C (p.His904Pro) c.5855A>C (p.His1952Pro) c.5972A>C (p.His1991Pro) c.5858A>C (p.His1953Pro) c.5921A>C (p.His1974Pro) c.5969A>C (p.His1990Pro) c.5951A>C (p.His1984Pro) c.5879A>C (p.His1960Pro) c.5906A>C (p.His1969Pro) c.5909A>C (p.His1970Pro) c.5948A>C (p.His1983Pro) c.5918A>C (p.His1973Pro) n.2740A>C c.5813A>C (p.His1938Pro) c.5876A>C (p.His1959Pro) c.5816A>C (p.His1939Pro) c.6014A>C (p.His2005Pro) c.6011A>C (p.His2004Pro) | |
2 | g.71679144A>G | CA347226398 | DYSF | c.3386A>G (p.His1129Arg) c.2603A>G (p.His868Arg) c.2711A>G (p.His904Arg) c.5855A>G (p.His1952Arg) c.5972A>G (p.His1991Arg) c.5858A>G (p.His1953Arg) c.5921A>G (p.His1974Arg) c.5969A>G (p.His1990Arg) c.5951A>G (p.His1984Arg) c.5879A>G (p.His1960Arg) c.5906A>G (p.His1969Arg) c.5909A>G (p.His1970Arg) c.5948A>G (p.His1983Arg) c.5918A>G (p.His1973Arg) n.2740A>G c.5813A>G (p.His1938Arg) c.5876A>G (p.His1959Arg) c.5816A>G (p.His1939Arg) c.6014A>G (p.His2005Arg) c.6011A>G (p.His2004Arg) | |
2 | g.71679144A>T | CA347226399 | DYSF | c.3386A>T (p.His1129Leu) c.2603A>T (p.His868Leu) c.2711A>T (p.His904Leu) c.5855A>T (p.His1952Leu) c.5972A>T (p.His1991Leu) c.5858A>T (p.His1953Leu) c.5921A>T (p.His1974Leu) c.5969A>T (p.His1990Leu) c.5951A>T (p.His1984Leu) c.5879A>T (p.His1960Leu) c.5906A>T (p.His1969Leu) c.5909A>T (p.His1970Leu) c.5948A>T (p.His1983Leu) c.5918A>T (p.His1973Leu) n.2740A>T c.5813A>T (p.His1938Leu) c.5876A>T (p.His1959Leu) c.5816A>T (p.His1939Leu) c.6014A>T (p.His2005Leu) c.6011A>T (p.His2004Leu) | |
2 | g.71679145C>A | CA347226400 | DYSF | c.3387C>A (p.His1129Gln) c.2604C>A (p.His868Gln) c.2712C>A (p.His904Gln) c.5856C>A (p.His1952Gln) c.5973C>A (p.His1991Gln) c.5859C>A (p.His1953Gln) c.5922C>A (p.His1974Gln) c.5970C>A (p.His1990Gln) c.5952C>A (p.His1984Gln) c.5880C>A (p.His1960Gln) c.5907C>A (p.His1969Gln) c.5910C>A (p.His1970Gln) c.5949C>A (p.His1983Gln) c.5919C>A (p.His1973Gln) n.2741C>A c.5814C>A (p.His1938Gln) c.5877C>A (p.His1959Gln) c.5817C>A (p.His1939Gln) c.6015C>A (p.His2005Gln) c.6012C>A (p.His2004Gln) | |
2 | g.71679145C>G | CA347226401 | DYSF | c.3387C>G (p.His1129Gln) c.2604C>G (p.His868Gln) c.2712C>G (p.His904Gln) c.5856C>G (p.His1952Gln) c.5973C>G (p.His1991Gln) c.5859C>G (p.His1953Gln) c.5922C>G (p.His1974Gln) c.5970C>G (p.His1990Gln) c.5952C>G (p.His1984Gln) c.5880C>G (p.His1960Gln) c.5907C>G (p.His1969Gln) c.5910C>G (p.His1970Gln) c.5949C>G (p.His1983Gln) c.5919C>G (p.His1973Gln) n.2741C>G c.5814C>G (p.His1938Gln) c.5877C>G (p.His1959Gln) c.5817C>G (p.His1939Gln) c.6015C>G (p.His2005Gln) c.6012C>G (p.His2004Gln) | |
2 | g.71679145C>T | CA426704718 | DYSF | c.3387C>T (p.His1129=) c.2604C>T (p.His868=) c.2712C>T (p.His904=) c.5856C>T (p.His1952=) c.5973C>T (p.His1991=) c.5859C>T (p.His1953=) c.5922C>T (p.His1974=) c.5970C>T (p.His1990=) c.5952C>T (p.His1984=) c.5880C>T (p.His1960=) c.5907C>T (p.His1969=) c.5910C>T (p.His1970=) c.5949C>T (p.His1983=) c.5919C>T (p.His1973=) n.2741C>T c.5814C>T (p.His1938=) c.5877C>T (p.His1959=) c.5817C>T (p.His1939=) c.6015C>T (p.His2005=) c.6012C>T (p.His2004=) | |
2 | g.71679146C>A | CA347226402 | DYSF | c.3388C>A (p.Pro1130Thr) c.2605C>A (p.Pro869Thr) c.2713C>A (p.Pro905Thr) c.5857C>A (p.Pro1953Thr) c.5974C>A (p.Pro1992Thr) c.5860C>A (p.Pro1954Thr) c.5923C>A (p.Pro1975Thr) c.5971C>A (p.Pro1991Thr) c.5953C>A (p.Pro1985Thr) c.5881C>A (p.Pro1961Thr) c.5908C>A (p.Pro1970Thr) c.5911C>A (p.Pro1971Thr) c.5950C>A (p.Pro1984Thr) c.5920C>A (p.Pro1974Thr) n.2742C>A c.5815C>A (p.Pro1939Thr) c.5878C>A (p.Pro1960Thr) c.5818C>A (p.Pro1940Thr) c.6016C>A (p.Pro2006Thr) c.6013C>A (p.Pro2005Thr) | |
2 | g.71679146C= | CA1260156864 | DYSF | c.3388C= (p.Pro1130=) c.2605C= (p.Pro869=) c.2713C= (p.Pro905=) c.5857C= (p.Pro1953=) c.5974C= (p.Pro1992=) c.5860C= (p.Pro1954=) c.5923C= (p.Pro1975=) c.5971C= (p.Pro1991=) c.5953C= (p.Pro1985=) c.5881C= (p.Pro1961=) c.5908C= (p.Pro1970=) c.5911C= (p.Pro1971=) c.5950C= (p.Pro1984=) c.5920C= (p.Pro1974=) n.2742C= c.5815C= (p.Pro1939=) c.5878C= (p.Pro1960=) c.5818C= (p.Pro1940=) c.6016C= (p.Pro2006=) c.6013C= (p.Pro2005=) | |
2 | g.71679146C>G | CA347226403 | DYSF | c.3388C>G (p.Pro1130Ala) c.2605C>G (p.Pro869Ala) c.2713C>G (p.Pro905Ala) c.5857C>G (p.Pro1953Ala) c.5974C>G (p.Pro1992Ala) c.5860C>G (p.Pro1954Ala) c.5923C>G (p.Pro1975Ala) c.5971C>G (p.Pro1991Ala) c.5953C>G (p.Pro1985Ala) c.5881C>G (p.Pro1961Ala) c.5908C>G (p.Pro1970Ala) c.5911C>G (p.Pro1971Ala) c.5950C>G (p.Pro1984Ala) c.5920C>G (p.Pro1974Ala) n.2742C>G c.5815C>G (p.Pro1939Ala) c.5878C>G (p.Pro1960Ala) c.5818C>G (p.Pro1940Ala) c.6016C>G (p.Pro2006Ala) c.6013C>G (p.Pro2005Ala) | |
2 | g.71679146C>T | CA1707559 | DYSF | c.3388C>T (p.Pro1130Ser) c.2605C>T (p.Pro869Ser) c.2713C>T (p.Pro905Ser) c.5857C>T (p.Pro1953Ser) c.5974C>T (p.Pro1992Ser) c.5860C>T (p.Pro1954Ser) c.5923C>T (p.Pro1975Ser) c.5971C>T (p.Pro1991Ser) c.5953C>T (p.Pro1985Ser) c.5881C>T (p.Pro1961Ser) c.5908C>T (p.Pro1970Ser) c.5911C>T (p.Pro1971Ser) c.5950C>T (p.Pro1984Ser) c.5920C>T (p.Pro1974Ser) n.2742C>T c.5815C>T (p.Pro1939Ser) c.5878C>T (p.Pro1960Ser) c.5818C>T (p.Pro1940Ser) c.6016C>T (p.Pro2006Ser) c.6013C>T (p.Pro2005Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71679147C>A | CA347226404 | DYSF | c.3389C>A (p.Pro1130Gln) c.2606C>A (p.Pro869Gln) c.2714C>A (p.Pro905Gln) c.5858C>A (p.Pro1953Gln) c.5975C>A (p.Pro1992Gln) c.5861C>A (p.Pro1954Gln) c.5924C>A (p.Pro1975Gln) c.5972C>A (p.Pro1991Gln) c.5954C>A (p.Pro1985Gln) c.5882C>A (p.Pro1961Gln) c.5909C>A (p.Pro1970Gln) c.5912C>A (p.Pro1971Gln) c.5951C>A (p.Pro1984Gln) c.5921C>A (p.Pro1974Gln) n.2743C>A c.5816C>A (p.Pro1939Gln) c.5879C>A (p.Pro1960Gln) c.5819C>A (p.Pro1940Gln) c.6017C>A (p.Pro2006Gln) c.6014C>A (p.Pro2005Gln) | |
2 | g.71679147C= | CA1260156865 | DYSF | c.3389C= (p.Pro1130=) c.2606C= (p.Pro869=) c.2714C= (p.Pro905=) c.5858C= (p.Pro1953=) c.5975C= (p.Pro1992=) c.5861C= (p.Pro1954=) c.5924C= (p.Pro1975=) c.5972C= (p.Pro1991=) c.5954C= (p.Pro1985=) c.5882C= (p.Pro1961=) c.5909C= (p.Pro1970=) c.5912C= (p.Pro1971=) c.5951C= (p.Pro1984=) c.5921C= (p.Pro1974=) n.2743C= c.5816C= (p.Pro1939=) c.5879C= (p.Pro1960=) c.5819C= (p.Pro1940=) c.6017C= (p.Pro2006=) c.6014C= (p.Pro2005=) | |
2 | g.71679147C>G | CA347226405 | DYSF | c.3389C>G (p.Pro1130Arg) c.2606C>G (p.Pro869Arg) c.2714C>G (p.Pro905Arg) c.5858C>G (p.Pro1953Arg) c.5975C>G (p.Pro1992Arg) c.5861C>G (p.Pro1954Arg) c.5924C>G (p.Pro1975Arg) c.5972C>G (p.Pro1991Arg) c.5954C>G (p.Pro1985Arg) c.5882C>G (p.Pro1961Arg) c.5909C>G (p.Pro1970Arg) c.5912C>G (p.Pro1971Arg) c.5951C>G (p.Pro1984Arg) c.5921C>G (p.Pro1974Arg) n.2743C>G c.5816C>G (p.Pro1939Arg) c.5879C>G (p.Pro1960Arg) c.5819C>G (p.Pro1940Arg) c.6017C>G (p.Pro2006Arg) c.6014C>G (p.Pro2005Arg) | |
2 | g.71679147C>T | CA347226406 | DYSF | c.3389C>T (p.Pro1130Leu) c.2606C>T (p.Pro869Leu) c.2714C>T (p.Pro905Leu) c.5858C>T (p.Pro1953Leu) c.5975C>T (p.Pro1992Leu) c.5861C>T (p.Pro1954Leu) c.5924C>T (p.Pro1975Leu) c.5972C>T (p.Pro1991Leu) c.5954C>T (p.Pro1985Leu) c.5882C>T (p.Pro1961Leu) c.5909C>T (p.Pro1970Leu) c.5912C>T (p.Pro1971Leu) c.5951C>T (p.Pro1984Leu) c.5921C>T (p.Pro1974Leu) n.2743C>T c.5816C>T (p.Pro1939Leu) c.5879C>T (p.Pro1960Leu) c.5819C>T (p.Pro1940Leu) c.6017C>T (p.Pro2006Leu) c.6014C>T (p.Pro2005Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679148del | CA2739292198 | DYSF | c.3390del (p.Glu1131AsnfsTer12) c.2607del (p.Glu870AsnfsTer12) c.2715del (p.Glu906AsnfsTer12) c.5859del (p.Glu1954AsnfsTer12) c.5976del (p.Glu1993AsnfsTer12) c.5862del (p.Glu1955AsnfsTer12) c.5925del (p.Glu1976AsnfsTer12) c.5973del (p.Glu1992AsnfsTer12) c.5955del (p.Glu1986AsnfsTer12) c.5883del (p.Glu1962AsnfsTer12) c.5910del (p.Glu1971AsnfsTer12) c.5913del (p.Glu1972AsnfsTer12) c.5952del (p.Glu1985AsnfsTer12) c.5922del (p.Glu1975AsnfsTer12) n.2744del c.5817del (p.Glu1940AsnfsTer12) c.5880del (p.Glu1961AsnfsTer12) c.5820del (p.Glu1941AsnfsTer12) c.6018del (p.Glu2007AsnfsTer12) c.6015del (p.Glu2006AsnfsTer12) | |
2 | g.71679148A= | CA1260156866 | DYSF | c.3390A= (p.Pro1130=) c.2607A= (p.Pro869=) c.2715A= (p.Pro905=) c.5859A= (p.Pro1953=) c.5976A= (p.Pro1992=) c.5862A= (p.Pro1954=) c.5925A= (p.Pro1975=) c.5973A= (p.Pro1991=) c.5955A= (p.Pro1985=) c.5883A= (p.Pro1961=) c.5910A= (p.Pro1970=) c.5913A= (p.Pro1971=) c.5952A= (p.Pro1984=) c.5922A= (p.Pro1974=) n.2744A= c.5817A= (p.Pro1939=) c.5880A= (p.Pro1960=) c.5820A= (p.Pro1940=) c.6018A= (p.Pro2006=) c.6015A= (p.Pro2005=) | |
2 | g.71679148A>C | CA147772 | DYSF | c.3390A>C (p.Pro1130=) c.2607A>C (p.Pro869=) c.2715A>C (p.Pro905=) c.5859A>C (p.Pro1953=) c.5976A>C (p.Pro1992=) c.5862A>C (p.Pro1954=) c.5925A>C (p.Pro1975=) c.5973A>C (p.Pro1991=) c.5955A>C (p.Pro1985=) c.5883A>C (p.Pro1961=) c.5910A>C (p.Pro1970=) c.5913A>C (p.Pro1971=) c.5952A>C (p.Pro1984=) c.5922A>C (p.Pro1974=) n.2744A>C c.5817A>C (p.Pro1939=) c.5880A>C (p.Pro1960=) c.5820A>C (p.Pro1940=) c.6018A>C (p.Pro2006=) c.6015A>C (p.Pro2005=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679148A>G | CA1707560 | DYSF | c.3390A>G (p.Pro1130=) c.2607A>G (p.Pro869=) c.2715A>G (p.Pro905=) c.5859A>G (p.Pro1953=) c.5976A>G (p.Pro1992=) c.5862A>G (p.Pro1954=) c.5925A>G (p.Pro1975=) c.5973A>G (p.Pro1991=) c.5955A>G (p.Pro1985=) c.5883A>G (p.Pro1961=) c.5910A>G (p.Pro1970=) c.5913A>G (p.Pro1971=) c.5952A>G (p.Pro1984=) c.5922A>G (p.Pro1974=) n.2744A>G c.5817A>G (p.Pro1939=) c.5880A>G (p.Pro1960=) c.5820A>G (p.Pro1940=) c.6018A>G (p.Pro2006=) c.6015A>G (p.Pro2005=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71679148A>T | CA49774376 | DYSF | c.3390A>T (p.Pro1130=) c.2607A>T (p.Pro869=) c.2715A>T (p.Pro905=) c.5859A>T (p.Pro1953=) c.5976A>T (p.Pro1992=) c.5862A>T (p.Pro1954=) c.5925A>T (p.Pro1975=) c.5973A>T (p.Pro1991=) c.5955A>T (p.Pro1985=) c.5883A>T (p.Pro1961=) c.5910A>T (p.Pro1970=) c.5913A>T (p.Pro1971=) c.5952A>T (p.Pro1984=) c.5922A>T (p.Pro1974=) n.2744A>T c.5817A>T (p.Pro1939=) c.5880A>T (p.Pro1960=) c.5820A>T (p.Pro1940=) c.6018A>T (p.Pro2006=) c.6015A>T (p.Pro2005=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.71679148_71679149delinsCT | CA658657040 | DYSF | c.3390_3391delinsCT (p.Pro1131Ter) c.2607_2608delinsCT (p.Pro870Ter) c.2715_2716delinsCT (p.Pro906Ter) c.5859_5860delinsCT (p.Pro1954Ter) c.5976_5977delinsCT (p.Pro1993Ter) c.5862_5863delinsCT (p.Pro1955Ter) c.5925_5926delinsCT (p.Pro1976Ter) c.5973_5974delinsCT (p.Pro1992Ter) c.5955_5956delinsCT (p.Pro1986Ter) c.5883_5884delinsCT (p.Pro1962Ter) c.5910_5911delinsCT (p.Pro1971Ter) c.5913_5914delinsCT (p.Pro1972Ter) c.5952_5953delinsCT (p.Pro1985Ter) c.5922_5923delinsCT (p.Pro1975Ter) n.2744_2745delinsCT c.5817_5818delinsCT (p.Pro1940Ter) c.5880_5881delinsCT (p.Pro1961Ter) c.5820_5821delinsCT (p.Pro1941Ter) c.6018_6019delinsCT (p.Pro2007Ter) c.6015_6016delinsCT (p.Pro2006Ter) | ClinVar |
2 | g.71679149G>A | CA347226408 | DYSF | c.3391G>A (p.Glu1131Lys) c.2608G>A (p.Glu870Lys) c.2716G>A (p.Glu906Lys) c.5860G>A (p.Glu1954Lys) c.5977G>A (p.Glu1993Lys) c.5863G>A (p.Glu1955Lys) c.5926G>A (p.Glu1976Lys) c.5974G>A (p.Glu1992Lys) c.5956G>A (p.Glu1986Lys) c.5884G>A (p.Glu1962Lys) c.5911G>A (p.Glu1971Lys) c.5914G>A (p.Glu1972Lys) c.5953G>A (p.Glu1985Lys) c.5923G>A (p.Glu1975Lys) n.2745G>A c.5818G>A (p.Glu1940Lys) c.5881G>A (p.Glu1961Lys) c.5821G>A (p.Glu1941Lys) c.6019G>A (p.Glu2007Lys) c.6016G>A (p.Glu2006Lys) | dbSNP |
2 | g.71679149G>C | CA347226409 | DYSF | c.3391G>C (p.Glu1131Gln) c.2608G>C (p.Glu870Gln) c.2716G>C (p.Glu906Gln) c.5860G>C (p.Glu1954Gln) c.5977G>C (p.Glu1993Gln) c.5863G>C (p.Glu1955Gln) c.5926G>C (p.Glu1976Gln) c.5974G>C (p.Glu1992Gln) c.5956G>C (p.Glu1986Gln) c.5884G>C (p.Glu1962Gln) c.5911G>C (p.Glu1971Gln) c.5914G>C (p.Glu1972Gln) c.5953G>C (p.Glu1985Gln) c.5923G>C (p.Glu1975Gln) n.2745G>C c.5818G>C (p.Glu1940Gln) c.5881G>C (p.Glu1961Gln) c.5821G>C (p.Glu1941Gln) c.6019G>C (p.Glu2007Gln) c.6016G>C (p.Glu2006Gln) | |
2 | g.71679149G= | CA1260156867 | DYSF | c.3391G= (p.Glu1131=) c.2608G= (p.Glu870=) c.2716G= (p.Glu906=) c.5860G= (p.Glu1954=) c.5977G= (p.Glu1993=) c.5863G= (p.Glu1955=) c.5926G= (p.Glu1976=) c.5974G= (p.Glu1992=) c.5956G= (p.Glu1986=) c.5884G= (p.Glu1962=) c.5911G= (p.Glu1971=) c.5914G= (p.Glu1972=) c.5953G= (p.Glu1985=) c.5923G= (p.Glu1975=) n.2745G= c.5818G= (p.Glu1940=) c.5881G= (p.Glu1961=) c.5821G= (p.Glu1941=) c.6019G= (p.Glu2007=) c.6016G= (p.Glu2006=) | |
2 | g.71679149G>T | CA347226407 | DYSF | c.3391G>T (p.Glu1131Ter) c.2608G>T (p.Glu870Ter) c.2716G>T (p.Glu906Ter) c.5860G>T (p.Glu1954Ter) c.5977G>T (p.Glu1993Ter) c.5863G>T (p.Glu1955Ter) c.5926G>T (p.Glu1976Ter) c.5974G>T (p.Glu1992Ter) c.5956G>T (p.Glu1986Ter) c.5884G>T (p.Glu1962Ter) c.5911G>T (p.Glu1971Ter) c.5914G>T (p.Glu1972Ter) c.5953G>T (p.Glu1985Ter) c.5923G>T (p.Glu1975Ter) n.2745G>T c.5818G>T (p.Glu1940Ter) c.5881G>T (p.Glu1961Ter) c.5821G>T (p.Glu1941Ter) c.6019G>T (p.Glu2007Ter) c.6016G>T (p.Glu2006Ter) | ClinVar gnomAD v4 |
2 | g.71679150A>C | CA347226410 | DYSF | c.3392A>C (p.Glu1131Ala) c.2609A>C (p.Glu870Ala) c.2717A>C (p.Glu906Ala) c.5861A>C (p.Glu1954Ala) c.5978A>C (p.Glu1993Ala) c.5864A>C (p.Glu1955Ala) c.5927A>C (p.Glu1976Ala) c.5975A>C (p.Glu1992Ala) c.5957A>C (p.Glu1986Ala) c.5885A>C (p.Glu1962Ala) c.5912A>C (p.Glu1971Ala) c.5915A>C (p.Glu1972Ala) c.5954A>C (p.Glu1985Ala) c.5924A>C (p.Glu1975Ala) n.2746A>C c.5819A>C (p.Glu1940Ala) c.5882A>C (p.Glu1961Ala) c.5822A>C (p.Glu1941Ala) c.6020A>C (p.Glu2007Ala) c.6017A>C (p.Glu2006Ala) | |
2 | g.71679150A>G | CA347226412 | DYSF | c.3392A>G (p.Glu1131Gly) c.2609A>G (p.Glu870Gly) c.2717A>G (p.Glu906Gly) c.5861A>G (p.Glu1954Gly) c.5978A>G (p.Glu1993Gly) c.5864A>G (p.Glu1955Gly) c.5927A>G (p.Glu1976Gly) c.5975A>G (p.Glu1992Gly) c.5957A>G (p.Glu1986Gly) c.5885A>G (p.Glu1962Gly) c.5912A>G (p.Glu1971Gly) c.5915A>G (p.Glu1972Gly) c.5954A>G (p.Glu1985Gly) c.5924A>G (p.Glu1975Gly) n.2746A>G c.5819A>G (p.Glu1940Gly) c.5882A>G (p.Glu1961Gly) c.5822A>G (p.Glu1941Gly) c.6020A>G (p.Glu2007Gly) c.6017A>G (p.Glu2006Gly) | |
2 | g.71679150A>T | CA347226411 | DYSF | c.3392A>T (p.Glu1131Val) c.2609A>T (p.Glu870Val) c.2717A>T (p.Glu906Val) c.5861A>T (p.Glu1954Val) c.5978A>T (p.Glu1993Val) c.5864A>T (p.Glu1955Val) c.5927A>T (p.Glu1976Val) c.5975A>T (p.Glu1992Val) c.5957A>T (p.Glu1986Val) c.5885A>T (p.Glu1962Val) c.5912A>T (p.Glu1971Val) c.5915A>T (p.Glu1972Val) c.5954A>T (p.Glu1985Val) c.5924A>T (p.Glu1975Val) n.2746A>T c.5819A>T (p.Glu1940Val) c.5882A>T (p.Glu1961Val) c.5822A>T (p.Glu1941Val) c.6020A>T (p.Glu2007Val) c.6017A>T (p.Glu2006Val) | |
2 | g.71679151A>C | CA347226413 | DYSF | c.3393A>C (p.Glu1131Asp) c.2610A>C (p.Glu870Asp) c.2718A>C (p.Glu906Asp) c.5862A>C (p.Glu1954Asp) c.5979A>C (p.Glu1993Asp) c.5865A>C (p.Glu1955Asp) c.5928A>C (p.Glu1976Asp) c.5976A>C (p.Glu1992Asp) c.5958A>C (p.Glu1986Asp) c.5886A>C (p.Glu1962Asp) c.5913A>C (p.Glu1971Asp) c.5916A>C (p.Glu1972Asp) c.5955A>C (p.Glu1985Asp) c.5925A>C (p.Glu1975Asp) n.2747A>C c.5820A>C (p.Glu1940Asp) c.5883A>C (p.Glu1961Asp) c.5823A>C (p.Glu1941Asp) c.6021A>C (p.Glu2007Asp) c.6018A>C (p.Glu2006Asp) | |
2 | g.71679151A>G | CA426704719 | DYSF | c.3393A>G (p.Glu1131=) c.2610A>G (p.Glu870=) c.2718A>G (p.Glu906=) c.5862A>G (p.Glu1954=) c.5979A>G (p.Glu1993=) c.5865A>G (p.Glu1955=) c.5928A>G (p.Glu1976=) c.5976A>G (p.Glu1992=) c.5958A>G (p.Glu1986=) c.5886A>G (p.Glu1962=) c.5913A>G (p.Glu1971=) c.5916A>G (p.Glu1972=) c.5955A>G (p.Glu1985=) c.5925A>G (p.Glu1975=) n.2747A>G c.5820A>G (p.Glu1940=) c.5883A>G (p.Glu1961=) c.5823A>G (p.Glu1941=) c.6021A>G (p.Glu2007=) c.6018A>G (p.Glu2006=) | ClinVar |
2 | g.71679151A>T | CA347226414 | DYSF | c.3393A>T (p.Glu1131Asp) c.2610A>T (p.Glu870Asp) c.2718A>T (p.Glu906Asp) c.5862A>T (p.Glu1954Asp) c.5979A>T (p.Glu1993Asp) c.5865A>T (p.Glu1955Asp) c.5928A>T (p.Glu1976Asp) c.5976A>T (p.Glu1992Asp) c.5958A>T (p.Glu1986Asp) c.5886A>T (p.Glu1962Asp) c.5913A>T (p.Glu1971Asp) c.5916A>T (p.Glu1972Asp) c.5955A>T (p.Glu1985Asp) c.5925A>T (p.Glu1975Asp) n.2747A>T c.5820A>T (p.Glu1940Asp) c.5883A>T (p.Glu1961Asp) c.5823A>T (p.Glu1941Asp) c.6021A>T (p.Glu2007Asp) c.6018A>T (p.Glu2006Asp) | |
2 | g.71679152T>A | CA347226415 | DYSF | c.3394T>A (p.Trp1132Arg) c.2611T>A (p.Trp871Arg) c.2719T>A (p.Trp907Arg) c.5863T>A (p.Trp1955Arg) c.5980T>A (p.Trp1994Arg) c.5866T>A (p.Trp1956Arg) c.5929T>A (p.Trp1977Arg) c.5977T>A (p.Trp1993Arg) c.5959T>A (p.Trp1987Arg) c.5887T>A (p.Trp1963Arg) c.5914T>A (p.Trp1972Arg) c.5917T>A (p.Trp1973Arg) c.5956T>A (p.Trp1986Arg) c.5926T>A (p.Trp1976Arg) n.2748T>A c.5821T>A (p.Trp1941Arg) c.5884T>A (p.Trp1962Arg) c.5824T>A (p.Trp1942Arg) c.6022T>A (p.Trp2008Arg) c.6019T>A (p.Trp2007Arg) | |
2 | g.71679152T>C | CA347226417 | DYSF | c.3394T>C (p.Trp1132Arg) c.2611T>C (p.Trp871Arg) c.2719T>C (p.Trp907Arg) c.5863T>C (p.Trp1955Arg) c.5980T>C (p.Trp1994Arg) c.5866T>C (p.Trp1956Arg) c.5929T>C (p.Trp1977Arg) c.5977T>C (p.Trp1993Arg) c.5959T>C (p.Trp1987Arg) c.5887T>C (p.Trp1963Arg) c.5914T>C (p.Trp1972Arg) c.5917T>C (p.Trp1973Arg) c.5956T>C (p.Trp1986Arg) c.5926T>C (p.Trp1976Arg) n.2748T>C c.5821T>C (p.Trp1941Arg) c.5884T>C (p.Trp1962Arg) c.5824T>C (p.Trp1942Arg) c.6022T>C (p.Trp2008Arg) c.6019T>C (p.Trp2007Arg) | |
2 | g.71679152T>G | CA347226416 | DYSF | c.3394T>G (p.Trp1132Gly) c.2611T>G (p.Trp871Gly) c.2719T>G (p.Trp907Gly) c.5863T>G (p.Trp1955Gly) c.5980T>G (p.Trp1994Gly) c.5866T>G (p.Trp1956Gly) c.5929T>G (p.Trp1977Gly) c.5977T>G (p.Trp1993Gly) c.5959T>G (p.Trp1987Gly) c.5887T>G (p.Trp1963Gly) c.5914T>G (p.Trp1972Gly) c.5917T>G (p.Trp1973Gly) c.5956T>G (p.Trp1986Gly) c.5926T>G (p.Trp1976Gly) n.2748T>G c.5821T>G (p.Trp1941Gly) c.5884T>G (p.Trp1962Gly) c.5824T>G (p.Trp1942Gly) c.6022T>G (p.Trp2008Gly) c.6019T>G (p.Trp2007Gly) | |
2 | g.71679153G>A | CA49774397 | DYSF | c.3395G>A (p.Trp1132Ter) c.2612G>A (p.Trp871Ter) c.2720G>A (p.Trp907Ter) c.5864G>A (p.Trp1955Ter) c.5981G>A (p.Trp1994Ter) c.5867G>A (p.Trp1956Ter) c.5930G>A (p.Trp1977Ter) c.5978G>A (p.Trp1993Ter) c.5960G>A (p.Trp1987Ter) c.5888G>A (p.Trp1963Ter) c.5915G>A (p.Trp1972Ter) c.5918G>A (p.Trp1973Ter) c.5957G>A (p.Trp1986Ter) c.5927G>A (p.Trp1976Ter) n.2749G>A c.5822G>A (p.Trp1941Ter) c.5885G>A (p.Trp1962Ter) c.5825G>A (p.Trp1942Ter) c.6023G>A (p.Trp2008Ter) c.6020G>A (p.Trp2007Ter) | dbSNP |
2 | g.71679153G>C | CA347226419 | DYSF | c.3395G>C (p.Trp1132Ser) c.2612G>C (p.Trp871Ser) c.2720G>C (p.Trp907Ser) c.5864G>C (p.Trp1955Ser) c.5981G>C (p.Trp1994Ser) c.5867G>C (p.Trp1956Ser) c.5930G>C (p.Trp1977Ser) c.5978G>C (p.Trp1993Ser) c.5960G>C (p.Trp1987Ser) c.5888G>C (p.Trp1963Ser) c.5915G>C (p.Trp1972Ser) c.5918G>C (p.Trp1973Ser) c.5957G>C (p.Trp1986Ser) c.5927G>C (p.Trp1976Ser) n.2749G>C c.5822G>C (p.Trp1941Ser) c.5885G>C (p.Trp1962Ser) c.5825G>C (p.Trp1942Ser) c.6023G>C (p.Trp2008Ser) c.6020G>C (p.Trp2007Ser) | |
2 | g.71679153G= | CA1260156868 | DYSF | c.3395G= (p.Trp1132=) c.2612G= (p.Trp871=) c.2720G= (p.Trp907=) c.5864G= (p.Trp1955=) c.5981G= (p.Trp1994=) c.5867G= (p.Trp1956=) c.5930G= (p.Trp1977=) c.5978G= (p.Trp1993=) c.5960G= (p.Trp1987=) c.5888G= (p.Trp1963=) c.5915G= (p.Trp1972=) c.5918G= (p.Trp1973=) c.5957G= (p.Trp1986=) c.5927G= (p.Trp1976=) n.2749G= c.5822G= (p.Trp1941=) c.5885G= (p.Trp1962=) c.5825G= (p.Trp1942=) c.6023G= (p.Trp2008=) c.6020G= (p.Trp2007=) | |
2 | g.71679153G>T | CA347226418 | DYSF | c.3395G>T (p.Trp1132Leu) c.2612G>T (p.Trp871Leu) c.2720G>T (p.Trp907Leu) c.5864G>T (p.Trp1955Leu) c.5981G>T (p.Trp1994Leu) c.5867G>T (p.Trp1956Leu) c.5930G>T (p.Trp1977Leu) c.5978G>T (p.Trp1993Leu) c.5960G>T (p.Trp1987Leu) c.5888G>T (p.Trp1963Leu) c.5915G>T (p.Trp1972Leu) c.5918G>T (p.Trp1973Leu) c.5957G>T (p.Trp1986Leu) c.5927G>T (p.Trp1976Leu) n.2749G>T c.5822G>T (p.Trp1941Leu) c.5885G>T (p.Trp1962Leu) c.5825G>T (p.Trp1942Leu) c.6023G>T (p.Trp2008Leu) c.6020G>T (p.Trp2007Leu) | |
2 | g.71679154G>A | CA347226420 | DYSF | c.3396G>A (p.Trp1132Ter) c.2613G>A (p.Trp871Ter) c.2721G>A (p.Trp907Ter) c.5865G>A (p.Trp1955Ter) c.5982G>A (p.Trp1994Ter) c.5868G>A (p.Trp1956Ter) c.5931G>A (p.Trp1977Ter) c.5979G>A (p.Trp1993Ter) c.5961G>A (p.Trp1987Ter) c.5889G>A (p.Trp1963Ter) c.5916G>A (p.Trp1972Ter) c.5919G>A (p.Trp1973Ter) c.5958G>A (p.Trp1986Ter) c.5928G>A (p.Trp1976Ter) n.2750G>A c.5823G>A (p.Trp1941Ter) c.5886G>A (p.Trp1962Ter) c.5826G>A (p.Trp1942Ter) c.6024G>A (p.Trp2008Ter) c.6021G>A (p.Trp2007Ter) | dbSNP |
2 | g.71679154G>C | CA347226422 | DYSF | c.3396G>C (p.Trp1132Cys) c.2613G>C (p.Trp871Cys) c.2721G>C (p.Trp907Cys) c.5865G>C (p.Trp1955Cys) c.5982G>C (p.Trp1994Cys) c.5868G>C (p.Trp1956Cys) c.5931G>C (p.Trp1977Cys) c.5979G>C (p.Trp1993Cys) c.5961G>C (p.Trp1987Cys) c.5889G>C (p.Trp1963Cys) c.5916G>C (p.Trp1972Cys) c.5919G>C (p.Trp1973Cys) c.5958G>C (p.Trp1986Cys) c.5928G>C (p.Trp1976Cys) n.2750G>C c.5823G>C (p.Trp1941Cys) c.5886G>C (p.Trp1962Cys) c.5826G>C (p.Trp1942Cys) c.6024G>C (p.Trp2008Cys) c.6021G>C (p.Trp2007Cys) | |
2 | g.71679154G= | CA1260156869 | DYSF | c.3396G= (p.Trp1132=) c.2613G= (p.Trp871=) c.2721G= (p.Trp907=) c.5865G= (p.Trp1955=) c.5982G= (p.Trp1994=) c.5868G= (p.Trp1956=) c.5931G= (p.Trp1977=) c.5979G= (p.Trp1993=) c.5961G= (p.Trp1987=) c.5889G= (p.Trp1963=) c.5916G= (p.Trp1972=) c.5919G= (p.Trp1973=) c.5958G= (p.Trp1986=) c.5928G= (p.Trp1976=) n.2750G= c.5823G= (p.Trp1941=) c.5886G= (p.Trp1962=) c.5826G= (p.Trp1942=) c.6024G= (p.Trp2008=) c.6021G= (p.Trp2007=) | |
2 | g.71679154G>T | CA347226421 | DYSF | c.3396G>T (p.Trp1132Cys) c.2613G>T (p.Trp871Cys) c.2721G>T (p.Trp907Cys) c.5865G>T (p.Trp1955Cys) c.5982G>T (p.Trp1994Cys) c.5868G>T (p.Trp1956Cys) c.5931G>T (p.Trp1977Cys) c.5979G>T (p.Trp1993Cys) c.5961G>T (p.Trp1987Cys) c.5889G>T (p.Trp1963Cys) c.5916G>T (p.Trp1972Cys) c.5919G>T (p.Trp1973Cys) c.5958G>T (p.Trp1986Cys) c.5928G>T (p.Trp1976Cys) n.2750G>T c.5823G>T (p.Trp1941Cys) c.5886G>T (p.Trp1962Cys) c.5826G>T (p.Trp1942Cys) c.6024G>T (p.Trp2008Cys) c.6021G>T (p.Trp2007Cys) | |
2 | g.71679155T>A | CA347226423 | DYSF | c.3397T>A (p.Phe1133Ile) c.2614T>A (p.Phe872Ile) c.2722T>A (p.Phe908Ile) c.5866T>A (p.Phe1956Ile) c.5983T>A (p.Phe1995Ile) c.5869T>A (p.Phe1957Ile) c.5932T>A (p.Phe1978Ile) c.5980T>A (p.Phe1994Ile) c.5962T>A (p.Phe1988Ile) c.5890T>A (p.Phe1964Ile) c.5917T>A (p.Phe1973Ile) c.5920T>A (p.Phe1974Ile) c.5959T>A (p.Phe1987Ile) c.5929T>A (p.Phe1977Ile) n.2751T>A c.5824T>A (p.Phe1942Ile) c.5887T>A (p.Phe1963Ile) c.5827T>A (p.Phe1943Ile) c.6025T>A (p.Phe2009Ile) c.6022T>A (p.Phe2008Ile) | |
2 | g.71679155T>C | CA347226425 | DYSF | c.3397T>C (p.Phe1133Leu) c.2614T>C (p.Phe872Leu) c.2722T>C (p.Phe908Leu) c.5866T>C (p.Phe1956Leu) c.5983T>C (p.Phe1995Leu) c.5869T>C (p.Phe1957Leu) c.5932T>C (p.Phe1978Leu) c.5980T>C (p.Phe1994Leu) c.5962T>C (p.Phe1988Leu) c.5890T>C (p.Phe1964Leu) c.5917T>C (p.Phe1973Leu) c.5920T>C (p.Phe1974Leu) c.5959T>C (p.Phe1987Leu) c.5929T>C (p.Phe1977Leu) n.2751T>C c.5824T>C (p.Phe1942Leu) c.5887T>C (p.Phe1963Leu) c.5827T>C (p.Phe1943Leu) c.6025T>C (p.Phe2009Leu) c.6022T>C (p.Phe2008Leu) | gnomAD v4 |
2 | g.71679155T>G | CA347226424 | DYSF | c.3397T>G (p.Phe1133Val) c.2614T>G (p.Phe872Val) c.2722T>G (p.Phe908Val) c.5866T>G (p.Phe1956Val) c.5983T>G (p.Phe1995Val) c.5869T>G (p.Phe1957Val) c.5932T>G (p.Phe1978Val) c.5980T>G (p.Phe1994Val) c.5962T>G (p.Phe1988Val) c.5890T>G (p.Phe1964Val) c.5917T>G (p.Phe1973Val) c.5920T>G (p.Phe1974Val) c.5959T>G (p.Phe1987Val) c.5929T>G (p.Phe1977Val) n.2751T>G c.5824T>G (p.Phe1942Val) c.5887T>G (p.Phe1963Val) c.5827T>G (p.Phe1943Val) c.6025T>G (p.Phe2009Val) c.6022T>G (p.Phe2008Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679155T= | CA1260156870 | DYSF | c.3397T= (p.Phe1133=) c.2614T= (p.Phe872=) c.2722T= (p.Phe908=) c.5866T= (p.Phe1956=) c.5983T= (p.Phe1995=) c.5869T= (p.Phe1957=) c.5932T= (p.Phe1978=) c.5980T= (p.Phe1994=) c.5962T= (p.Phe1988=) c.5890T= (p.Phe1964=) c.5917T= (p.Phe1973=) c.5920T= (p.Phe1974=) c.5959T= (p.Phe1987=) c.5929T= (p.Phe1977=) n.2751T= c.5824T= (p.Phe1942=) c.5887T= (p.Phe1963=) c.5827T= (p.Phe1943=) c.6025T= (p.Phe2009=) c.6022T= (p.Phe2008=) | |
2 | g.71679156T>A | CA347226426 | DYSF | c.3398T>A (p.Phe1133Tyr) c.2615T>A (p.Phe872Tyr) c.2723T>A (p.Phe908Tyr) c.5867T>A (p.Phe1956Tyr) c.5984T>A (p.Phe1995Tyr) c.5870T>A (p.Phe1957Tyr) c.5933T>A (p.Phe1978Tyr) c.5981T>A (p.Phe1994Tyr) c.5963T>A (p.Phe1988Tyr) c.5891T>A (p.Phe1964Tyr) c.5918T>A (p.Phe1973Tyr) c.5921T>A (p.Phe1974Tyr) c.5960T>A (p.Phe1987Tyr) c.5930T>A (p.Phe1977Tyr) n.2752T>A c.5825T>A (p.Phe1942Tyr) c.5888T>A (p.Phe1963Tyr) c.5828T>A (p.Phe1943Tyr) c.6026T>A (p.Phe2009Tyr) c.6023T>A (p.Phe2008Tyr) | |
2 | g.71679156T>C | CA347226427 | DYSF | c.3398T>C (p.Phe1133Ser) c.2615T>C (p.Phe872Ser) c.2723T>C (p.Phe908Ser) c.5867T>C (p.Phe1956Ser) c.5984T>C (p.Phe1995Ser) c.5870T>C (p.Phe1957Ser) c.5933T>C (p.Phe1978Ser) c.5981T>C (p.Phe1994Ser) c.5963T>C (p.Phe1988Ser) c.5891T>C (p.Phe1964Ser) c.5918T>C (p.Phe1973Ser) c.5921T>C (p.Phe1974Ser) c.5960T>C (p.Phe1987Ser) c.5930T>C (p.Phe1977Ser) n.2752T>C c.5825T>C (p.Phe1942Ser) c.5888T>C (p.Phe1963Ser) c.5828T>C (p.Phe1943Ser) c.6026T>C (p.Phe2009Ser) c.6023T>C (p.Phe2008Ser) | gnomAD v4 |
2 | g.71679156T>G | CA347226428 | DYSF | c.3398T>G (p.Phe1133Cys) c.2615T>G (p.Phe872Cys) c.2723T>G (p.Phe908Cys) c.5867T>G (p.Phe1956Cys) c.5984T>G (p.Phe1995Cys) c.5870T>G (p.Phe1957Cys) c.5933T>G (p.Phe1978Cys) c.5981T>G (p.Phe1994Cys) c.5963T>G (p.Phe1988Cys) c.5891T>G (p.Phe1964Cys) c.5918T>G (p.Phe1973Cys) c.5921T>G (p.Phe1974Cys) c.5960T>G (p.Phe1987Cys) c.5930T>G (p.Phe1977Cys) n.2752T>G c.5825T>G (p.Phe1942Cys) c.5888T>G (p.Phe1963Cys) c.5828T>G (p.Phe1943Cys) c.6026T>G (p.Phe2009Cys) c.6023T>G (p.Phe2008Cys) | |
2 | g.71679157T>A | CA347226429 | DYSF | c.3399T>A (p.Phe1133Leu) c.2616T>A (p.Phe872Leu) c.2724T>A (p.Phe908Leu) c.5868T>A (p.Phe1956Leu) c.5985T>A (p.Phe1995Leu) c.5871T>A (p.Phe1957Leu) c.5934T>A (p.Phe1978Leu) c.5982T>A (p.Phe1994Leu) c.5964T>A (p.Phe1988Leu) c.5892T>A (p.Phe1964Leu) c.5919T>A (p.Phe1973Leu) c.5922T>A (p.Phe1974Leu) c.5961T>A (p.Phe1987Leu) c.5931T>A (p.Phe1977Leu) n.2753T>A c.5826T>A (p.Phe1942Leu) c.5889T>A (p.Phe1963Leu) c.5829T>A (p.Phe1943Leu) c.6027T>A (p.Phe2009Leu) c.6024T>A (p.Phe2008Leu) | |
2 | g.71679157T>C | CA426704720 | DYSF | c.3399T>C (p.Phe1133=) c.2616T>C (p.Phe872=) c.2724T>C (p.Phe908=) c.5868T>C (p.Phe1956=) c.5985T>C (p.Phe1995=) c.5871T>C (p.Phe1957=) c.5934T>C (p.Phe1978=) c.5982T>C (p.Phe1994=) c.5964T>C (p.Phe1988=) c.5892T>C (p.Phe1964=) c.5919T>C (p.Phe1973=) c.5922T>C (p.Phe1974=) c.5961T>C (p.Phe1987=) c.5931T>C (p.Phe1977=) n.2753T>C c.5826T>C (p.Phe1942=) c.5889T>C (p.Phe1963=) c.5829T>C (p.Phe1943=) c.6027T>C (p.Phe2009=) c.6024T>C (p.Phe2008=) | |
2 | g.71679157T>G | CA347226430 | DYSF | c.3399T>G (p.Phe1133Leu) c.2616T>G (p.Phe872Leu) c.2724T>G (p.Phe908Leu) c.5868T>G (p.Phe1956Leu) c.5985T>G (p.Phe1995Leu) c.5871T>G (p.Phe1957Leu) c.5934T>G (p.Phe1978Leu) c.5982T>G (p.Phe1994Leu) c.5964T>G (p.Phe1988Leu) c.5892T>G (p.Phe1964Leu) c.5919T>G (p.Phe1973Leu) c.5922T>G (p.Phe1974Leu) c.5961T>G (p.Phe1987Leu) c.5931T>G (p.Phe1977Leu) n.2753T>G c.5826T>G (p.Phe1942Leu) c.5889T>G (p.Phe1963Leu) c.5829T>G (p.Phe1943Leu) c.6027T>G (p.Phe2009Leu) c.6024T>G (p.Phe2008Leu) | |
2 | g.71679160_71679161del | CA1139532925 | DYSF | c.3402_3403del (p.Ser1135ProfsTer3) c.2619_2620del (p.Ser874ProfsTer3) c.2727_2728del (p.Ser910ProfsTer3) c.5871_5872del (p.Ser1958ProfsTer3) c.5988_5989del (p.Ser1997ProfsTer3) c.5874_5875del (p.Ser1959ProfsTer3) c.5937_5938del (p.Ser1980ProfsTer3) c.5985_5986del (p.Ser1996ProfsTer3) c.5967_5968del (p.Ser1990ProfsTer3) c.5895_5896del (p.Ser1966ProfsTer3) c.5922_5923del (p.Ser1975ProfsTer3) c.5925_5926del (p.Ser1976ProfsTer3) c.5964_5965del (p.Ser1989ProfsTer3) c.5934_5935del (p.Ser1979ProfsTer3) n.2756_2757del c.5829_5830del (p.Ser1944ProfsTer3) c.5892_5893del (p.Ser1965ProfsTer3) c.5832_5833del (p.Ser1945ProfsTer3) c.6030_6031del (p.Ser2011ProfsTer3) c.6027_6028del (p.Ser2010ProfsTer3) | ClinVar gnomAD v4 |
2 | g.71679158G>A | CA347226431 | DYSF | c.3400G>A (p.Val1134Met) c.2617G>A (p.Val873Met) c.2725G>A (p.Val909Met) c.5869G>A (p.Val1957Met) c.5986G>A (p.Val1996Met) c.5872G>A (p.Val1958Met) c.5935G>A (p.Val1979Met) c.5983G>A (p.Val1995Met) c.5965G>A (p.Val1989Met) c.5893G>A (p.Val1965Met) c.5920G>A (p.Val1974Met) c.5923G>A (p.Val1975Met) c.5962G>A (p.Val1988Met) c.5932G>A (p.Val1978Met) n.2754G>A c.5827G>A (p.Val1943Met) c.5890G>A (p.Val1964Met) c.5830G>A (p.Val1944Met) c.6028G>A (p.Val2010Met) c.6025G>A (p.Val2009Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71679158G>C | CA347226432 | DYSF | c.3400G>C (p.Val1134Leu) c.2617G>C (p.Val873Leu) c.2725G>C (p.Val909Leu) c.5869G>C (p.Val1957Leu) c.5986G>C (p.Val1996Leu) c.5872G>C (p.Val1958Leu) c.5935G>C (p.Val1979Leu) c.5983G>C (p.Val1995Leu) c.5965G>C (p.Val1989Leu) c.5893G>C (p.Val1965Leu) c.5920G>C (p.Val1974Leu) c.5923G>C (p.Val1975Leu) c.5962G>C (p.Val1988Leu) c.5932G>C (p.Val1978Leu) n.2754G>C c.5827G>C (p.Val1943Leu) c.5890G>C (p.Val1964Leu) c.5830G>C (p.Val1944Leu) c.6028G>C (p.Val2010Leu) c.6025G>C (p.Val2009Leu) | dbSNP gnomAD v2 |
2 | g.71679158G= | CA1260156871 | DYSF | c.3400G= (p.Val1134=) c.2617G= (p.Val873=) c.2725G= (p.Val909=) c.5869G= (p.Val1957=) c.5986G= (p.Val1996=) c.5872G= (p.Val1958=) c.5935G= (p.Val1979=) c.5983G= (p.Val1995=) c.5965G= (p.Val1989=) c.5893G= (p.Val1965=) c.5920G= (p.Val1974=) c.5923G= (p.Val1975=) c.5962G= (p.Val1988=) c.5932G= (p.Val1978=) n.2754G= c.5827G= (p.Val1943=) c.5890G= (p.Val1964=) c.5830G= (p.Val1944=) c.6028G= (p.Val2010=) c.6025G= (p.Val2009=) | |
2 | g.71679158G>T | CA347226433 | DYSF | c.3400G>T (p.Val1134Leu) c.2617G>T (p.Val873Leu) c.2725G>T (p.Val909Leu) c.5869G>T (p.Val1957Leu) c.5986G>T (p.Val1996Leu) c.5872G>T (p.Val1958Leu) c.5935G>T (p.Val1979Leu) c.5983G>T (p.Val1995Leu) c.5965G>T (p.Val1989Leu) c.5893G>T (p.Val1965Leu) c.5920G>T (p.Val1974Leu) c.5923G>T (p.Val1975Leu) c.5962G>T (p.Val1988Leu) c.5932G>T (p.Val1978Leu) n.2754G>T c.5827G>T (p.Val1943Leu) c.5890G>T (p.Val1964Leu) c.5830G>T (p.Val1944Leu) c.6028G>T (p.Val2010Leu) c.6025G>T (p.Val2009Leu) | |
2 | g.71679159T>A | CA347226434 | DYSF | c.3401T>A (p.Val1134Glu) c.2618T>A (p.Val873Glu) c.2726T>A (p.Val909Glu) c.5870T>A (p.Val1957Glu) c.5987T>A (p.Val1996Glu) c.5873T>A (p.Val1958Glu) c.5936T>A (p.Val1979Glu) c.5984T>A (p.Val1995Glu) c.5966T>A (p.Val1989Glu) c.5894T>A (p.Val1965Glu) c.5921T>A (p.Val1974Glu) c.5924T>A (p.Val1975Glu) c.5963T>A (p.Val1988Glu) c.5933T>A (p.Val1978Glu) n.2755T>A c.5828T>A (p.Val1943Glu) c.5891T>A (p.Val1964Glu) c.5831T>A (p.Val1944Glu) c.6029T>A (p.Val2010Glu) c.6026T>A (p.Val2009Glu) | |
2 | g.71679159T>C | CA347226435 | DYSF | c.3401T>C (p.Val1134Ala) c.2618T>C (p.Val873Ala) c.2726T>C (p.Val909Ala) c.5870T>C (p.Val1957Ala) c.5987T>C (p.Val1996Ala) c.5873T>C (p.Val1958Ala) c.5936T>C (p.Val1979Ala) c.5984T>C (p.Val1995Ala) c.5966T>C (p.Val1989Ala) c.5894T>C (p.Val1965Ala) c.5921T>C (p.Val1974Ala) c.5924T>C (p.Val1975Ala) c.5963T>C (p.Val1988Ala) c.5933T>C (p.Val1978Ala) n.2755T>C c.5828T>C (p.Val1943Ala) c.5891T>C (p.Val1964Ala) c.5831T>C (p.Val1944Ala) c.6029T>C (p.Val2010Ala) c.6026T>C (p.Val2009Ala) | |
2 | g.71679159T>G | CA347226436 | DYSF | c.3401T>G (p.Val1134Gly) c.2618T>G (p.Val873Gly) c.2726T>G (p.Val909Gly) c.5870T>G (p.Val1957Gly) c.5987T>G (p.Val1996Gly) c.5873T>G (p.Val1958Gly) c.5936T>G (p.Val1979Gly) c.5984T>G (p.Val1995Gly) c.5966T>G (p.Val1989Gly) c.5894T>G (p.Val1965Gly) c.5921T>G (p.Val1974Gly) c.5924T>G (p.Val1975Gly) c.5963T>G (p.Val1988Gly) c.5933T>G (p.Val1978Gly) n.2755T>G c.5828T>G (p.Val1943Gly) c.5891T>G (p.Val1964Gly) c.5831T>G (p.Val1944Gly) c.6029T>G (p.Val2010Gly) c.6026T>G (p.Val2009Gly) | |
2 | g.71679160G>A | CA426704721 | DYSF | c.3402G>A (p.Val1134=) c.2619G>A (p.Val873=) c.2727G>A (p.Val909=) c.5871G>A (p.Val1957=) c.5988G>A (p.Val1996=) c.5874G>A (p.Val1958=) c.5937G>A (p.Val1979=) c.5985G>A (p.Val1995=) c.5967G>A (p.Val1989=) c.5895G>A (p.Val1965=) c.5922G>A (p.Val1974=) c.5925G>A (p.Val1975=) c.5964G>A (p.Val1988=) c.5934G>A (p.Val1978=) n.2756G>A c.5829G>A (p.Val1943=) c.5892G>A (p.Val1964=) c.5832G>A (p.Val1944=) c.6030G>A (p.Val2010=) c.6027G>A (p.Val2009=) | |
2 | g.71679160G>C | CA426704722 | DYSF | c.3402G>C (p.Val1134=) c.2619G>C (p.Val873=) c.2727G>C (p.Val909=) c.5871G>C (p.Val1957=) c.5988G>C (p.Val1996=) c.5874G>C (p.Val1958=) c.5937G>C (p.Val1979=) c.5985G>C (p.Val1995=) c.5967G>C (p.Val1989=) c.5895G>C (p.Val1965=) c.5922G>C (p.Val1974=) c.5925G>C (p.Val1975=) c.5964G>C (p.Val1988=) c.5934G>C (p.Val1978=) n.2756G>C c.5829G>C (p.Val1943=) c.5892G>C (p.Val1964=) c.5832G>C (p.Val1944=) c.6030G>C (p.Val2010=) c.6027G>C (p.Val2009=) | |
2 | g.71679160G>T | CA426704723 | DYSF | c.3402G>T (p.Val1134=) c.2619G>T (p.Val873=) c.2727G>T (p.Val909=) c.5871G>T (p.Val1957=) c.5988G>T (p.Val1996=) c.5874G>T (p.Val1958=) c.5937G>T (p.Val1979=) c.5985G>T (p.Val1995=) c.5967G>T (p.Val1989=) c.5895G>T (p.Val1965=) c.5922G>T (p.Val1974=) c.5925G>T (p.Val1975=) c.5964G>T (p.Val1988=) c.5934G>T (p.Val1978=) n.2756G>T c.5829G>T (p.Val1943=) c.5892G>T (p.Val1964=) c.5832G>T (p.Val1944=) c.6030G>T (p.Val2010=) c.6027G>T (p.Val2009=) | |
2 | g.71679161T>A | CA347226437 | DYSF | c.3403T>A (p.Ser1135Thr) c.2620T>A (p.Ser874Thr) c.2728T>A (p.Ser910Thr) c.5872T>A (p.Ser1958Thr) c.5989T>A (p.Ser1997Thr) c.5875T>A (p.Ser1959Thr) c.5938T>A (p.Ser1980Thr) c.5986T>A (p.Ser1996Thr) c.5968T>A (p.Ser1990Thr) c.5896T>A (p.Ser1966Thr) c.5923T>A (p.Ser1975Thr) c.5926T>A (p.Ser1976Thr) c.5965T>A (p.Ser1989Thr) c.5935T>A (p.Ser1979Thr) n.2757T>A c.5830T>A (p.Ser1944Thr) c.5893T>A (p.Ser1965Thr) c.5833T>A (p.Ser1945Thr) c.6031T>A (p.Ser2011Thr) c.6028T>A (p.Ser2010Thr) | |
2 | g.71679161T>C | CA347226439 | DYSF | c.3403T>C (p.Ser1135Pro) c.2620T>C (p.Ser874Pro) c.2728T>C (p.Ser910Pro) c.5872T>C (p.Ser1958Pro) c.5989T>C (p.Ser1997Pro) c.5875T>C (p.Ser1959Pro) c.5938T>C (p.Ser1980Pro) c.5986T>C (p.Ser1996Pro) c.5968T>C (p.Ser1990Pro) c.5896T>C (p.Ser1966Pro) c.5923T>C (p.Ser1975Pro) c.5926T>C (p.Ser1976Pro) c.5965T>C (p.Ser1989Pro) c.5935T>C (p.Ser1979Pro) n.2757T>C c.5830T>C (p.Ser1944Pro) c.5893T>C (p.Ser1965Pro) c.5833T>C (p.Ser1945Pro) c.6031T>C (p.Ser2011Pro) c.6028T>C (p.Ser2010Pro) | dbSNP |
2 | g.71679161T>G | CA347226438 | DYSF | c.3403T>G (p.Ser1135Ala) c.2620T>G (p.Ser874Ala) c.2728T>G (p.Ser910Ala) c.5872T>G (p.Ser1958Ala) c.5989T>G (p.Ser1997Ala) c.5875T>G (p.Ser1959Ala) c.5938T>G (p.Ser1980Ala) c.5986T>G (p.Ser1996Ala) c.5968T>G (p.Ser1990Ala) c.5896T>G (p.Ser1966Ala) c.5923T>G (p.Ser1975Ala) c.5926T>G (p.Ser1976Ala) c.5965T>G (p.Ser1989Ala) c.5935T>G (p.Ser1979Ala) n.2757T>G c.5830T>G (p.Ser1944Ala) c.5893T>G (p.Ser1965Ala) c.5833T>G (p.Ser1945Ala) c.6031T>G (p.Ser2011Ala) c.6028T>G (p.Ser2010Ala) | |
2 | g.71679161T= | CA1260156872 | DYSF | c.3403T= (p.Ser1135=) c.2620T= (p.Ser874=) c.2728T= (p.Ser910=) c.5872T= (p.Ser1958=) c.5989T= (p.Ser1997=) c.5875T= (p.Ser1959=) c.5938T= (p.Ser1980=) c.5986T= (p.Ser1996=) c.5968T= (p.Ser1990=) c.5896T= (p.Ser1966=) c.5923T= (p.Ser1975=) c.5926T= (p.Ser1976=) c.5965T= (p.Ser1989=) c.5935T= (p.Ser1979=) n.2757T= c.5830T= (p.Ser1944=) c.5893T= (p.Ser1965=) c.5833T= (p.Ser1945=) c.6031T= (p.Ser2011=) c.6028T= (p.Ser2010=) | |
2 | g.71679162C>A | CA347226440 | DYSF | c.3404C>A (p.Ser1135Tyr) c.2621C>A (p.Ser874Tyr) c.2729C>A (p.Ser910Tyr) c.5873C>A (p.Ser1958Tyr) c.5990C>A (p.Ser1997Tyr) c.5876C>A (p.Ser1959Tyr) c.5939C>A (p.Ser1980Tyr) c.5987C>A (p.Ser1996Tyr) c.5969C>A (p.Ser1990Tyr) c.5897C>A (p.Ser1966Tyr) c.5924C>A (p.Ser1975Tyr) c.5927C>A (p.Ser1976Tyr) c.5966C>A (p.Ser1989Tyr) c.5936C>A (p.Ser1979Tyr) n.2758C>A c.5831C>A (p.Ser1944Tyr) c.5894C>A (p.Ser1965Tyr) c.5834C>A (p.Ser1945Tyr) c.6032C>A (p.Ser2011Tyr) c.6029C>A (p.Ser2010Tyr) | |
2 | g.71679162C>G | CA347226441 | DYSF | c.3404C>G (p.Ser1135Cys) c.2621C>G (p.Ser874Cys) c.2729C>G (p.Ser910Cys) c.5873C>G (p.Ser1958Cys) c.5990C>G (p.Ser1997Cys) c.5876C>G (p.Ser1959Cys) c.5939C>G (p.Ser1980Cys) c.5987C>G (p.Ser1996Cys) c.5969C>G (p.Ser1990Cys) c.5897C>G (p.Ser1966Cys) c.5924C>G (p.Ser1975Cys) c.5927C>G (p.Ser1976Cys) c.5966C>G (p.Ser1989Cys) c.5936C>G (p.Ser1979Cys) n.2758C>G c.5831C>G (p.Ser1944Cys) c.5894C>G (p.Ser1965Cys) c.5834C>G (p.Ser1945Cys) c.6032C>G (p.Ser2011Cys) c.6029C>G (p.Ser2010Cys) | ClinVar |
2 | g.71679162C>T | CA347226442 | DYSF | c.3404C>T (p.Ser1135Phe) c.2621C>T (p.Ser874Phe) c.2729C>T (p.Ser910Phe) c.5873C>T (p.Ser1958Phe) c.5990C>T (p.Ser1997Phe) c.5876C>T (p.Ser1959Phe) c.5939C>T (p.Ser1980Phe) c.5987C>T (p.Ser1996Phe) c.5969C>T (p.Ser1990Phe) c.5897C>T (p.Ser1966Phe) c.5924C>T (p.Ser1975Phe) c.5927C>T (p.Ser1976Phe) c.5966C>T (p.Ser1989Phe) c.5936C>T (p.Ser1979Phe) n.2758C>T c.5831C>T (p.Ser1944Phe) c.5894C>T (p.Ser1965Phe) c.5834C>T (p.Ser1945Phe) c.6032C>T (p.Ser2011Phe) c.6029C>T (p.Ser2010Phe) | ClinVar dbSNP gnomAD v4 |
2 | g.71679163C>A | CA426704724 | DYSF | c.3405C>A (p.Ser1135=) c.2622C>A (p.Ser874=) c.2730C>A (p.Ser910=) c.5874C>A (p.Ser1958=) c.5991C>A (p.Ser1997=) c.5877C>A (p.Ser1959=) c.5940C>A (p.Ser1980=) c.5988C>A (p.Ser1996=) c.5970C>A (p.Ser1990=) c.5898C>A (p.Ser1966=) c.5925C>A (p.Ser1975=) c.5928C>A (p.Ser1976=) c.5967C>A (p.Ser1989=) c.5937C>A (p.Ser1979=) n.2759C>A c.5832C>A (p.Ser1944=) c.5895C>A (p.Ser1965=) c.5835C>A (p.Ser1945=) c.6033C>A (p.Ser2011=) c.6030C>A (p.Ser2010=) | |
2 | g.71679163C= | CA1260156873 | DYSF | c.3405C= (p.Ser1135=) c.2622C= (p.Ser874=) c.2730C= (p.Ser910=) c.5874C= (p.Ser1958=) c.5991C= (p.Ser1997=) c.5877C= (p.Ser1959=) c.5940C= (p.Ser1980=) c.5988C= (p.Ser1996=) c.5970C= (p.Ser1990=) c.5898C= (p.Ser1966=) c.5925C= (p.Ser1975=) c.5928C= (p.Ser1976=) c.5967C= (p.Ser1989=) c.5937C= (p.Ser1979=) n.2759C= c.5832C= (p.Ser1944=) c.5895C= (p.Ser1965=) c.5835C= (p.Ser1945=) c.6033C= (p.Ser2011=) c.6030C= (p.Ser2010=) | |
2 | g.71679163C>G | CA426704725 | DYSF | c.3405C>G (p.Ser1135=) c.2622C>G (p.Ser874=) c.2730C>G (p.Ser910=) c.5874C>G (p.Ser1958=) c.5991C>G (p.Ser1997=) c.5877C>G (p.Ser1959=) c.5940C>G (p.Ser1980=) c.5988C>G (p.Ser1996=) c.5970C>G (p.Ser1990=) c.5898C>G (p.Ser1966=) c.5925C>G (p.Ser1975=) c.5928C>G (p.Ser1976=) c.5967C>G (p.Ser1989=) c.5937C>G (p.Ser1979=) n.2759C>G c.5832C>G (p.Ser1944=) c.5895C>G (p.Ser1965=) c.5835C>G (p.Ser1945=) c.6033C>G (p.Ser2011=) c.6030C>G (p.Ser2010=) | ClinVar |
2 | g.71679163C>T | CA49774399 | DYSF | c.3405C>T (p.Ser1135=) c.2622C>T (p.Ser874=) c.2730C>T (p.Ser910=) c.5874C>T (p.Ser1958=) c.5991C>T (p.Ser1997=) c.5877C>T (p.Ser1959=) c.5940C>T (p.Ser1980=) c.5988C>T (p.Ser1996=) c.5970C>T (p.Ser1990=) c.5898C>T (p.Ser1966=) c.5925C>T (p.Ser1975=) c.5928C>T (p.Ser1976=) c.5967C>T (p.Ser1989=) c.5937C>T (p.Ser1979=) n.2759C>T c.5832C>T (p.Ser1944=) c.5895C>T (p.Ser1965=) c.5835C>T (p.Ser1945=) c.6033C>T (p.Ser2011=) c.6030C>T (p.Ser2010=) | dbSNP gnomAD v4 |
2 | g.71679164C>A | CA347226443 | DYSF | c.3406C>A (p.Leu1136Ile) c.2623C>A (p.Leu875Ile) c.2731C>A (p.Leu911Ile) c.5875C>A (p.Leu1959Ile) c.5992C>A (p.Leu1998Ile) c.5878C>A (p.Leu1960Ile) c.5941C>A (p.Leu1981Ile) c.5989C>A (p.Leu1997Ile) c.5971C>A (p.Leu1991Ile) c.5899C>A (p.Leu1967Ile) c.5926C>A (p.Leu1976Ile) c.5929C>A (p.Leu1977Ile) c.5968C>A (p.Leu1990Ile) c.5938C>A (p.Leu1980Ile) n.2760C>A c.5833C>A (p.Leu1945Ile) c.5896C>A (p.Leu1966Ile) c.5836C>A (p.Leu1946Ile) c.6034C>A (p.Leu2012Ile) c.6031C>A (p.Leu2011Ile) | |
2 | g.71679164C= | CA1260156874 | DYSF | c.3406C= (p.Leu1136=) c.2623C= (p.Leu875=) c.2731C= (p.Leu911=) c.5875C= (p.Leu1959=) c.5992C= (p.Leu1998=) c.5878C= (p.Leu1960=) c.5941C= (p.Leu1981=) c.5989C= (p.Leu1997=) c.5971C= (p.Leu1991=) c.5899C= (p.Leu1967=) c.5926C= (p.Leu1976=) c.5929C= (p.Leu1977=) c.5968C= (p.Leu1990=) c.5938C= (p.Leu1980=) n.2760C= c.5833C= (p.Leu1945=) c.5896C= (p.Leu1966=) c.5836C= (p.Leu1946=) c.6034C= (p.Leu2012=) c.6031C= (p.Leu2011=) | |
2 | g.71679164C>G | CA1707561 | DYSF | c.3406C>G (p.Leu1136Val) c.2623C>G (p.Leu875Val) c.2731C>G (p.Leu911Val) c.5875C>G (p.Leu1959Val) c.5992C>G (p.Leu1998Val) c.5878C>G (p.Leu1960Val) c.5941C>G (p.Leu1981Val) c.5989C>G (p.Leu1997Val) c.5971C>G (p.Leu1991Val) c.5899C>G (p.Leu1967Val) c.5926C>G (p.Leu1976Val) c.5929C>G (p.Leu1977Val) c.5968C>G (p.Leu1990Val) c.5938C>G (p.Leu1980Val) n.2760C>G c.5833C>G (p.Leu1945Val) c.5896C>G (p.Leu1966Val) c.5836C>G (p.Leu1946Val) c.6034C>G (p.Leu2012Val) c.6031C>G (p.Leu2011Val) | ClinVar dbSNP ExAC |
2 | g.71679164C>T | CA347226444 | DYSF | c.3406C>T (p.Leu1136Phe) c.2623C>T (p.Leu875Phe) c.2731C>T (p.Leu911Phe) c.5875C>T (p.Leu1959Phe) c.5992C>T (p.Leu1998Phe) c.5878C>T (p.Leu1960Phe) c.5941C>T (p.Leu1981Phe) c.5989C>T (p.Leu1997Phe) c.5971C>T (p.Leu1991Phe) c.5899C>T (p.Leu1967Phe) c.5926C>T (p.Leu1976Phe) c.5929C>T (p.Leu1977Phe) c.5968C>T (p.Leu1990Phe) c.5938C>T (p.Leu1980Phe) n.2760C>T c.5833C>T (p.Leu1945Phe) c.5896C>T (p.Leu1966Phe) c.5836C>T (p.Leu1946Phe) c.6034C>T (p.Leu2012Phe) c.6031C>T (p.Leu2011Phe) | gnomAD v4 COSMIC COSMIC |
2 | g.71679165T>A | CA1707562 | DYSF | c.3407T>A (p.Leu1136His) c.2624T>A (p.Leu875His) c.2732T>A (p.Leu911His) c.5876T>A (p.Leu1959His) c.5993T>A (p.Leu1998His) c.5879T>A (p.Leu1960His) c.5942T>A (p.Leu1981His) c.5990T>A (p.Leu1997His) c.5972T>A (p.Leu1991His) c.5900T>A (p.Leu1967His) c.5927T>A (p.Leu1976His) c.5930T>A (p.Leu1977His) c.5969T>A (p.Leu1990His) c.5939T>A (p.Leu1980His) n.2761T>A c.5834T>A (p.Leu1945His) c.5897T>A (p.Leu1966His) c.5837T>A (p.Leu1946His) c.6035T>A (p.Leu2012His) c.6032T>A (p.Leu2011His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71679165T>C | CA347226445 | DYSF | c.3407T>C (p.Leu1136Pro) c.2624T>C (p.Leu875Pro) c.2732T>C (p.Leu911Pro) c.5876T>C (p.Leu1959Pro) c.5993T>C (p.Leu1998Pro) c.5879T>C (p.Leu1960Pro) c.5942T>C (p.Leu1981Pro) c.5990T>C (p.Leu1997Pro) c.5972T>C (p.Leu1991Pro) c.5900T>C (p.Leu1967Pro) c.5927T>C (p.Leu1976Pro) c.5930T>C (p.Leu1977Pro) c.5969T>C (p.Leu1990Pro) c.5939T>C (p.Leu1980Pro) n.2761T>C c.5834T>C (p.Leu1945Pro) c.5897T>C (p.Leu1966Pro) c.5837T>C (p.Leu1946Pro) c.6035T>C (p.Leu2012Pro) c.6032T>C (p.Leu2011Pro) | ClinVar |
2 | g.71679165T>G | CA347226446 | DYSF | c.3407T>G (p.Leu1136Arg) c.2624T>G (p.Leu875Arg) c.2732T>G (p.Leu911Arg) c.5876T>G (p.Leu1959Arg) c.5993T>G (p.Leu1998Arg) c.5879T>G (p.Leu1960Arg) c.5942T>G (p.Leu1981Arg) c.5990T>G (p.Leu1997Arg) c.5972T>G (p.Leu1991Arg) c.5900T>G (p.Leu1967Arg) c.5927T>G (p.Leu1976Arg) c.5930T>G (p.Leu1977Arg) c.5969T>G (p.Leu1990Arg) c.5939T>G (p.Leu1980Arg) n.2761T>G c.5834T>G (p.Leu1945Arg) c.5897T>G (p.Leu1966Arg) c.5837T>G (p.Leu1946Arg) c.6035T>G (p.Leu2012Arg) c.6032T>G (p.Leu2011Arg) | |
2 | g.71679165T= | CA1260156875 | DYSF | c.3407T= (p.Leu1136=) c.2624T= (p.Leu875=) c.2732T= (p.Leu911=) c.5876T= (p.Leu1959=) c.5993T= (p.Leu1998=) c.5879T= (p.Leu1960=) c.5942T= (p.Leu1981=) c.5990T= (p.Leu1997=) c.5972T= (p.Leu1991=) c.5900T= (p.Leu1967=) c.5927T= (p.Leu1976=) c.5930T= (p.Leu1977=) c.5969T= (p.Leu1990=) c.5939T= (p.Leu1980=) n.2761T= c.5834T= (p.Leu1945=) c.5897T= (p.Leu1966=) c.5837T= (p.Leu1946=) c.6035T= (p.Leu2012=) c.6032T= (p.Leu2011=) | |
2 | g.71679169del | CA426704726 | DYSF | c.3411del (p.Phe1137LeufsTer6) c.2628del (p.Phe876LeufsTer6) c.2736del (p.Phe912LeufsTer6) c.5880del (p.Phe1960LeufsTer6) c.5997del (p.Phe1999LeufsTer6) c.5883del (p.Phe1961LeufsTer6) c.5946del (p.Phe1982LeufsTer6) c.5994del (p.Phe1998LeufsTer6) c.5976del (p.Phe1992LeufsTer6) c.5904del (p.Phe1968LeufsTer6) c.5931del (p.Phe1977LeufsTer6) c.5934del (p.Phe1978LeufsTer6) c.5973del (p.Phe1991LeufsTer6) c.5943del (p.Phe1981LeufsTer6) n.2765del c.5838del (p.Phe1946LeufsTer6) c.5901del (p.Phe1967LeufsTer6) c.5841del (p.Phe1947LeufsTer6) c.6039del (p.Phe2013LeufsTer6) c.6036del (p.Phe2012LeufsTer6) | COSMIC COSMIC |
2 | g.71679166T>A | CA426704727 | DYSF | c.3408T>A (p.Leu1136=) c.2625T>A (p.Leu875=) c.2733T>A (p.Leu911=) c.5877T>A (p.Leu1959=) c.5994T>A (p.Leu1998=) c.5880T>A (p.Leu1960=) c.5943T>A (p.Leu1981=) c.5991T>A (p.Leu1997=) c.5973T>A (p.Leu1991=) c.5901T>A (p.Leu1967=) c.5928T>A (p.Leu1976=) c.5931T>A (p.Leu1977=) c.5970T>A (p.Leu1990=) c.5940T>A (p.Leu1980=) n.2762T>A c.5835T>A (p.Leu1945=) c.5898T>A (p.Leu1966=) c.5838T>A (p.Leu1946=) c.6036T>A (p.Leu2012=) c.6033T>A (p.Leu2011=) | |
2 | g.71679166T>C | CA426704728 | DYSF | c.3408T>C (p.Leu1136=) c.2625T>C (p.Leu875=) c.2733T>C (p.Leu911=) c.5877T>C (p.Leu1959=) c.5994T>C (p.Leu1998=) c.5880T>C (p.Leu1960=) c.5943T>C (p.Leu1981=) c.5991T>C (p.Leu1997=) c.5973T>C (p.Leu1991=) c.5901T>C (p.Leu1967=) c.5928T>C (p.Leu1976=) c.5931T>C (p.Leu1977=) c.5970T>C (p.Leu1990=) c.5940T>C (p.Leu1980=) n.2762T>C c.5835T>C (p.Leu1945=) c.5898T>C (p.Leu1966=) c.5838T>C (p.Leu1946=) c.6036T>C (p.Leu2012=) c.6033T>C (p.Leu2011=) | |
2 | g.71679166T>G | CA426704729 | DYSF | c.3408T>G (p.Leu1136=) c.2625T>G (p.Leu875=) c.2733T>G (p.Leu911=) c.5877T>G (p.Leu1959=) c.5994T>G (p.Leu1998=) c.5880T>G (p.Leu1960=) c.5943T>G (p.Leu1981=) c.5991T>G (p.Leu1997=) c.5973T>G (p.Leu1991=) c.5901T>G (p.Leu1967=) c.5928T>G (p.Leu1976=) c.5931T>G (p.Leu1977=) c.5970T>G (p.Leu1990=) c.5940T>G (p.Leu1980=) n.2762T>G c.5835T>G (p.Leu1945=) c.5898T>G (p.Leu1966=) c.5838T>G (p.Leu1946=) c.6036T>G (p.Leu2012=) c.6033T>G (p.Leu2011=) | |
2 | g.71679167T>A | CA347226448 | DYSF | c.3409T>A (p.Phe1137Ile) c.2626T>A (p.Phe876Ile) c.2734T>A (p.Phe912Ile) c.5878T>A (p.Phe1960Ile) c.5995T>A (p.Phe1999Ile) c.5881T>A (p.Phe1961Ile) c.5944T>A (p.Phe1982Ile) c.5992T>A (p.Phe1998Ile) c.5974T>A (p.Phe1992Ile) c.5902T>A (p.Phe1968Ile) c.5929T>A (p.Phe1977Ile) c.5932T>A (p.Phe1978Ile) c.5971T>A (p.Phe1991Ile) c.5941T>A (p.Phe1981Ile) n.2763T>A c.5836T>A (p.Phe1946Ile) c.5899T>A (p.Phe1967Ile) c.5839T>A (p.Phe1947Ile) c.6037T>A (p.Phe2013Ile) c.6034T>A (p.Phe2012Ile) | |
2 | g.71679167T>C | CA347226449 | DYSF | c.3409T>C (p.Phe1137Leu) c.2626T>C (p.Phe876Leu) c.2734T>C (p.Phe912Leu) c.5878T>C (p.Phe1960Leu) c.5995T>C (p.Phe1999Leu) c.5881T>C (p.Phe1961Leu) c.5944T>C (p.Phe1982Leu) c.5992T>C (p.Phe1998Leu) c.5974T>C (p.Phe1992Leu) c.5902T>C (p.Phe1968Leu) c.5929T>C (p.Phe1977Leu) c.5932T>C (p.Phe1978Leu) c.5971T>C (p.Phe1991Leu) c.5941T>C (p.Phe1981Leu) n.2763T>C c.5836T>C (p.Phe1946Leu) c.5899T>C (p.Phe1967Leu) c.5839T>C (p.Phe1947Leu) c.6037T>C (p.Phe2013Leu) c.6034T>C (p.Phe2012Leu) | |
2 | g.71679167T>G | CA347226447 | DYSF | c.3409T>G (p.Phe1137Val) c.2626T>G (p.Phe876Val) c.2734T>G (p.Phe912Val) c.5878T>G (p.Phe1960Val) c.5995T>G (p.Phe1999Val) c.5881T>G (p.Phe1961Val) c.5944T>G (p.Phe1982Val) c.5992T>G (p.Phe1998Val) c.5974T>G (p.Phe1992Val) c.5902T>G (p.Phe1968Val) c.5929T>G (p.Phe1977Val) c.5932T>G (p.Phe1978Val) c.5971T>G (p.Phe1991Val) c.5941T>G (p.Phe1981Val) n.2763T>G c.5836T>G (p.Phe1946Val) c.5899T>G (p.Phe1967Val) c.5839T>G (p.Phe1947Val) c.6037T>G (p.Phe2013Val) c.6034T>G (p.Phe2012Val) | |
2 | g.71679168T>A | CA347226450 | DYSF | c.3410T>A (p.Phe1137Tyr) c.2627T>A (p.Phe876Tyr) c.2735T>A (p.Phe912Tyr) c.5879T>A (p.Phe1960Tyr) c.5996T>A (p.Phe1999Tyr) c.5882T>A (p.Phe1961Tyr) c.5945T>A (p.Phe1982Tyr) c.5993T>A (p.Phe1998Tyr) c.5975T>A (p.Phe1992Tyr) c.5903T>A (p.Phe1968Tyr) c.5930T>A (p.Phe1977Tyr) c.5933T>A (p.Phe1978Tyr) c.5972T>A (p.Phe1991Tyr) c.5942T>A (p.Phe1981Tyr) n.2764T>A c.5837T>A (p.Phe1946Tyr) c.5900T>A (p.Phe1967Tyr) c.5840T>A (p.Phe1947Tyr) c.6038T>A (p.Phe2013Tyr) c.6035T>A (p.Phe2012Tyr) | |
2 | g.71679168T>C | CA347226451 | DYSF | c.3410T>C (p.Phe1137Ser) c.2627T>C (p.Phe876Ser) c.2735T>C (p.Phe912Ser) c.5879T>C (p.Phe1960Ser) c.5996T>C (p.Phe1999Ser) c.5882T>C (p.Phe1961Ser) c.5945T>C (p.Phe1982Ser) c.5993T>C (p.Phe1998Ser) c.5975T>C (p.Phe1992Ser) c.5903T>C (p.Phe1968Ser) c.5930T>C (p.Phe1977Ser) c.5933T>C (p.Phe1978Ser) c.5972T>C (p.Phe1991Ser) c.5942T>C (p.Phe1981Ser) n.2764T>C c.5837T>C (p.Phe1946Ser) c.5900T>C (p.Phe1967Ser) c.5840T>C (p.Phe1947Ser) c.6038T>C (p.Phe2013Ser) c.6035T>C (p.Phe2012Ser) | |
2 | g.71679168T>G | CA347226452 | DYSF | c.3410T>G (p.Phe1137Cys) c.2627T>G (p.Phe876Cys) c.2735T>G (p.Phe912Cys) c.5879T>G (p.Phe1960Cys) c.5996T>G (p.Phe1999Cys) c.5882T>G (p.Phe1961Cys) c.5945T>G (p.Phe1982Cys) c.5993T>G (p.Phe1998Cys) c.5975T>G (p.Phe1992Cys) c.5903T>G (p.Phe1968Cys) c.5930T>G (p.Phe1977Cys) c.5933T>G (p.Phe1978Cys) c.5972T>G (p.Phe1991Cys) c.5942T>G (p.Phe1981Cys) n.2764T>G c.5837T>G (p.Phe1946Cys) c.5900T>G (p.Phe1967Cys) c.5840T>G (p.Phe1947Cys) c.6038T>G (p.Phe2013Cys) c.6035T>G (p.Phe2012Cys) | |
2 | g.71679169T>A | CA347226453 | DYSF | c.3411T>A (p.Phe1137Leu) c.2628T>A (p.Phe876Leu) c.2736T>A (p.Phe912Leu) c.5880T>A (p.Phe1960Leu) c.5997T>A (p.Phe1999Leu) c.5883T>A (p.Phe1961Leu) c.5946T>A (p.Phe1982Leu) c.5994T>A (p.Phe1998Leu) c.5976T>A (p.Phe1992Leu) c.5904T>A (p.Phe1968Leu) c.5931T>A (p.Phe1977Leu) c.5934T>A (p.Phe1978Leu) c.5973T>A (p.Phe1991Leu) c.5943T>A (p.Phe1981Leu) n.2765T>A c.5838T>A (p.Phe1946Leu) c.5901T>A (p.Phe1967Leu) c.5841T>A (p.Phe1947Leu) c.6039T>A (p.Phe2013Leu) c.6036T>A (p.Phe2012Leu) | |
2 | g.71679169T>C | CA426704730 | DYSF | c.3411T>C (p.Phe1137=) c.2628T>C (p.Phe876=) c.2736T>C (p.Phe912=) c.5880T>C (p.Phe1960=) c.5997T>C (p.Phe1999=) c.5883T>C (p.Phe1961=) c.5946T>C (p.Phe1982=) c.5994T>C (p.Phe1998=) c.5976T>C (p.Phe1992=) c.5904T>C (p.Phe1968=) c.5931T>C (p.Phe1977=) c.5934T>C (p.Phe1978=) c.5973T>C (p.Phe1991=) c.5943T>C (p.Phe1981=) n.2765T>C c.5838T>C (p.Phe1946=) c.5901T>C (p.Phe1967=) c.5841T>C (p.Phe1947=) c.6039T>C (p.Phe2013=) c.6036T>C (p.Phe2012=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679169T>G | CA347226454 | DYSF | c.3411T>G (p.Phe1137Leu) c.2628T>G (p.Phe876Leu) c.2736T>G (p.Phe912Leu) c.5880T>G (p.Phe1960Leu) c.5997T>G (p.Phe1999Leu) c.5883T>G (p.Phe1961Leu) c.5946T>G (p.Phe1982Leu) c.5994T>G (p.Phe1998Leu) c.5976T>G (p.Phe1992Leu) c.5904T>G (p.Phe1968Leu) c.5931T>G (p.Phe1977Leu) c.5934T>G (p.Phe1978Leu) c.5973T>G (p.Phe1991Leu) c.5943T>G (p.Phe1981Leu) n.2765T>G c.5838T>G (p.Phe1946Leu) c.5901T>G (p.Phe1967Leu) c.5841T>G (p.Phe1947Leu) c.6039T>G (p.Phe2013Leu) c.6036T>G (p.Phe2012Leu) | |
2 | g.71679169T= | CA1260156876 | DYSF | c.3411T= (p.Phe1137=) c.2628T= (p.Phe876=) c.2736T= (p.Phe912=) c.5880T= (p.Phe1960=) c.5997T= (p.Phe1999=) c.5883T= (p.Phe1961=) c.5946T= (p.Phe1982=) c.5994T= (p.Phe1998=) c.5976T= (p.Phe1992=) c.5904T= (p.Phe1968=) c.5931T= (p.Phe1977=) c.5934T= (p.Phe1978=) c.5973T= (p.Phe1991=) c.5943T= (p.Phe1981=) n.2765T= c.5838T= (p.Phe1946=) c.5901T= (p.Phe1967=) c.5841T= (p.Phe1947=) c.6039T= (p.Phe2013=) c.6036T= (p.Phe2012=) | |
2 | g.71679170G>A | CA347226457 | DYSF | c.3412G>A (p.Glu1138Lys) c.2629G>A (p.Glu877Lys) c.2737G>A (p.Glu913Lys) c.5881G>A (p.Glu1961Lys) c.5998G>A (p.Glu2000Lys) c.5884G>A (p.Glu1962Lys) c.5947G>A (p.Glu1983Lys) c.5995G>A (p.Glu1999Lys) c.5977G>A (p.Glu1993Lys) c.5905G>A (p.Glu1969Lys) c.5932G>A (p.Glu1978Lys) c.5935G>A (p.Glu1979Lys) c.5974G>A (p.Glu1992Lys) c.5944G>A (p.Glu1982Lys) n.2766G>A c.5839G>A (p.Glu1947Lys) c.5902G>A (p.Glu1968Lys) c.5842G>A (p.Glu1948Lys) c.6040G>A (p.Glu2014Lys) c.6037G>A (p.Glu2013Lys) | dbSNP |
2 | g.71679170G>C | CA347226455 | DYSF | c.3412G>C (p.Glu1138Gln) c.2629G>C (p.Glu877Gln) c.2737G>C (p.Glu913Gln) c.5881G>C (p.Glu1961Gln) c.5998G>C (p.Glu2000Gln) c.5884G>C (p.Glu1962Gln) c.5947G>C (p.Glu1983Gln) c.5995G>C (p.Glu1999Gln) c.5977G>C (p.Glu1993Gln) c.5905G>C (p.Glu1969Gln) c.5932G>C (p.Glu1978Gln) c.5935G>C (p.Glu1979Gln) c.5974G>C (p.Glu1992Gln) c.5944G>C (p.Glu1982Gln) n.2766G>C c.5839G>C (p.Glu1947Gln) c.5902G>C (p.Glu1968Gln) c.5842G>C (p.Glu1948Gln) c.6040G>C (p.Glu2014Gln) c.6037G>C (p.Glu2013Gln) | |
2 | g.71679170G= | CA1260156877 | DYSF | c.3412G= (p.Glu1138=) c.2629G= (p.Glu877=) c.2737G= (p.Glu913=) c.5881G= (p.Glu1961=) c.5998G= (p.Glu2000=) c.5884G= (p.Glu1962=) c.5947G= (p.Glu1983=) c.5995G= (p.Glu1999=) c.5977G= (p.Glu1993=) c.5905G= (p.Glu1969=) c.5932G= (p.Glu1978=) c.5935G= (p.Glu1979=) c.5974G= (p.Glu1992=) c.5944G= (p.Glu1982=) n.2766G= c.5839G= (p.Glu1947=) c.5902G= (p.Glu1968=) c.5842G= (p.Glu1948=) c.6040G= (p.Glu2014=) c.6037G= (p.Glu2013=) | |
2 | g.71679170G>T | CA347226456 | DYSF | c.3412G>T (p.Glu1138Ter) c.2629G>T (p.Glu877Ter) c.2737G>T (p.Glu913Ter) c.5881G>T (p.Glu1961Ter) c.5998G>T (p.Glu2000Ter) c.5884G>T (p.Glu1962Ter) c.5947G>T (p.Glu1983Ter) c.5995G>T (p.Glu1999Ter) c.5977G>T (p.Glu1993Ter) c.5905G>T (p.Glu1969Ter) c.5932G>T (p.Glu1978Ter) c.5935G>T (p.Glu1979Ter) c.5974G>T (p.Glu1992Ter) c.5944G>T (p.Glu1982Ter) n.2766G>T c.5839G>T (p.Glu1947Ter) c.5902G>T (p.Glu1968Ter) c.5842G>T (p.Glu1948Ter) c.6040G>T (p.Glu2014Ter) c.6037G>T (p.Glu2013Ter) | |
2 | g.71679171A= | CA1260156878 | DYSF | c.3413A= (p.Glu1138=) c.2630A= (p.Glu877=) c.2738A= (p.Glu913=) c.5882A= (p.Glu1961=) c.5999A= (p.Glu2000=) c.5885A= (p.Glu1962=) c.5948A= (p.Glu1983=) c.5996A= (p.Glu1999=) c.5978A= (p.Glu1993=) c.5906A= (p.Glu1969=) c.5933A= (p.Glu1978=) c.5936A= (p.Glu1979=) c.5975A= (p.Glu1992=) c.5945A= (p.Glu1982=) n.2767A= c.5840A= (p.Glu1947=) c.5903A= (p.Glu1968=) c.5843A= (p.Glu1948=) c.6041A= (p.Glu2014=) c.6038A= (p.Glu2013=) | |
2 | g.71679171A>C | CA347226458 | DYSF | c.3413A>C (p.Glu1138Ala) c.2630A>C (p.Glu877Ala) c.2738A>C (p.Glu913Ala) c.5882A>C (p.Glu1961Ala) c.5999A>C (p.Glu2000Ala) c.5885A>C (p.Glu1962Ala) c.5948A>C (p.Glu1983Ala) c.5996A>C (p.Glu1999Ala) c.5978A>C (p.Glu1993Ala) c.5906A>C (p.Glu1969Ala) c.5933A>C (p.Glu1978Ala) c.5936A>C (p.Glu1979Ala) c.5975A>C (p.Glu1992Ala) c.5945A>C (p.Glu1982Ala) n.2767A>C c.5840A>C (p.Glu1947Ala) c.5903A>C (p.Glu1968Ala) c.5843A>C (p.Glu1948Ala) c.6041A>C (p.Glu2014Ala) c.6038A>C (p.Glu2013Ala) | |
2 | g.71679171A>G | CA1707563 | DYSF | c.3413A>G (p.Glu1138Gly) c.2630A>G (p.Glu877Gly) c.2738A>G (p.Glu913Gly) c.5882A>G (p.Glu1961Gly) c.5999A>G (p.Glu2000Gly) c.5885A>G (p.Glu1962Gly) c.5948A>G (p.Glu1983Gly) c.5996A>G (p.Glu1999Gly) c.5978A>G (p.Glu1993Gly) c.5906A>G (p.Glu1969Gly) c.5933A>G (p.Glu1978Gly) c.5936A>G (p.Glu1979Gly) c.5975A>G (p.Glu1992Gly) c.5945A>G (p.Glu1982Gly) n.2767A>G c.5840A>G (p.Glu1947Gly) c.5903A>G (p.Glu1968Gly) c.5843A>G (p.Glu1948Gly) c.6041A>G (p.Glu2014Gly) c.6038A>G (p.Glu2013Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71679171A>T | CA347226459 | DYSF | c.3413A>T (p.Glu1138Val) c.2630A>T (p.Glu877Val) c.2738A>T (p.Glu913Val) c.5882A>T (p.Glu1961Val) c.5999A>T (p.Glu2000Val) c.5885A>T (p.Glu1962Val) c.5948A>T (p.Glu1983Val) c.5996A>T (p.Glu1999Val) c.5978A>T (p.Glu1993Val) c.5906A>T (p.Glu1969Val) c.5933A>T (p.Glu1978Val) c.5936A>T (p.Glu1979Val) c.5975A>T (p.Glu1992Val) c.5945A>T (p.Glu1982Val) n.2767A>T c.5840A>T (p.Glu1947Val) c.5903A>T (p.Glu1968Val) c.5843A>T (p.Glu1948Val) c.6041A>T (p.Glu2014Val) c.6038A>T (p.Glu2013Val) | |
2 | g.71679172G>A | CA426704731 | DYSF | c.3414G>A (p.Glu1138=) c.2631G>A (p.Glu877=) c.2739G>A (p.Glu913=) c.5883G>A (p.Glu1961=) c.6000G>A (p.Glu2000=) c.5886G>A (p.Glu1962=) c.5949G>A (p.Glu1983=) c.5997G>A (p.Glu1999=) c.5979G>A (p.Glu1993=) c.5907G>A (p.Glu1969=) c.5934G>A (p.Glu1978=) c.5937G>A (p.Glu1979=) c.5976G>A (p.Glu1992=) c.5946G>A (p.Glu1982=) n.2768G>A c.5841G>A (p.Glu1947=) c.5904G>A (p.Glu1968=) c.5844G>A (p.Glu1948=) c.6042G>A (p.Glu2014=) c.6039G>A (p.Glu2013=) | |
2 | g.71679172G>C | CA347226460 | DYSF | c.3414G>C (p.Glu1138Asp) c.2631G>C (p.Glu877Asp) c.2739G>C (p.Glu913Asp) c.5883G>C (p.Glu1961Asp) c.6000G>C (p.Glu2000Asp) c.5886G>C (p.Glu1962Asp) c.5949G>C (p.Glu1983Asp) c.5997G>C (p.Glu1999Asp) c.5979G>C (p.Glu1993Asp) c.5907G>C (p.Glu1969Asp) c.5934G>C (p.Glu1978Asp) c.5937G>C (p.Glu1979Asp) c.5976G>C (p.Glu1992Asp) c.5946G>C (p.Glu1982Asp) n.2768G>C c.5841G>C (p.Glu1947Asp) c.5904G>C (p.Glu1968Asp) c.5844G>C (p.Glu1948Asp) c.6042G>C (p.Glu2014Asp) c.6039G>C (p.Glu2013Asp) | |
2 | g.71679172G>T | CA347226461 | DYSF | c.3414G>T (p.Glu1138Asp) c.2631G>T (p.Glu877Asp) c.2739G>T (p.Glu913Asp) c.5883G>T (p.Glu1961Asp) c.6000G>T (p.Glu2000Asp) c.5886G>T (p.Glu1962Asp) c.5949G>T (p.Glu1983Asp) c.5997G>T (p.Glu1999Asp) c.5979G>T (p.Glu1993Asp) c.5907G>T (p.Glu1969Asp) c.5934G>T (p.Glu1978Asp) c.5937G>T (p.Glu1979Asp) c.5976G>T (p.Glu1992Asp) c.5946G>T (p.Glu1982Asp) n.2768G>T c.5841G>T (p.Glu1947Asp) c.5904G>T (p.Glu1968Asp) c.5844G>T (p.Glu1948Asp) c.6042G>T (p.Glu2014Asp) c.6039G>T (p.Glu2013Asp) | |
2 | g.71679173C>A | CA347226462 | DYSF | c.3415C>A (p.Gln1139Lys) c.2632C>A (p.Gln878Lys) c.2740C>A (p.Gln914Lys) c.5884C>A (p.Gln1962Lys) c.6001C>A (p.Gln2001Lys) c.5887C>A (p.Gln1963Lys) c.5950C>A (p.Gln1984Lys) c.5998C>A (p.Gln2000Lys) c.5980C>A (p.Gln1994Lys) c.5908C>A (p.Gln1970Lys) c.5935C>A (p.Gln1979Lys) c.5938C>A (p.Gln1980Lys) c.5977C>A (p.Gln1993Lys) c.5947C>A (p.Gln1983Lys) n.2769C>A c.5842C>A (p.Gln1948Lys) c.5905C>A (p.Gln1969Lys) c.5845C>A (p.Gln1949Lys) c.6043C>A (p.Gln2015Lys) c.6040C>A (p.Gln2014Lys) | |
2 | g.71679173C= | CA1260156879 | DYSF | c.3415C= (p.Gln1139=) c.2632C= (p.Gln878=) c.2740C= (p.Gln914=) c.5884C= (p.Gln1962=) c.6001C= (p.Gln2001=) c.5887C= (p.Gln1963=) c.5950C= (p.Gln1984=) c.5998C= (p.Gln2000=) c.5980C= (p.Gln1994=) c.5908C= (p.Gln1970=) c.5935C= (p.Gln1979=) c.5938C= (p.Gln1980=) c.5977C= (p.Gln1993=) c.5947C= (p.Gln1983=) n.2769C= c.5842C= (p.Gln1948=) c.5905C= (p.Gln1969=) c.5845C= (p.Gln1949=) c.6043C= (p.Gln2015=) c.6040C= (p.Gln2014=) | |
2 | g.71679173C>G | CA347226463 | DYSF | c.3415C>G (p.Gln1139Glu) c.2632C>G (p.Gln878Glu) c.2740C>G (p.Gln914Glu) c.5884C>G (p.Gln1962Glu) c.6001C>G (p.Gln2001Glu) c.5887C>G (p.Gln1963Glu) c.5950C>G (p.Gln1984Glu) c.5998C>G (p.Gln2000Glu) c.5980C>G (p.Gln1994Glu) c.5908C>G (p.Gln1970Glu) c.5935C>G (p.Gln1979Glu) c.5938C>G (p.Gln1980Glu) c.5977C>G (p.Gln1993Glu) c.5947C>G (p.Gln1983Glu) n.2769C>G c.5842C>G (p.Gln1948Glu) c.5905C>G (p.Gln1969Glu) c.5845C>G (p.Gln1949Glu) c.6043C>G (p.Gln2015Glu) c.6040C>G (p.Gln2014Glu) | |
2 | g.71679173C>T | CA16617750 | DYSF | c.3415C>T (p.Gln1139Ter) c.2632C>T (p.Gln878Ter) c.2740C>T (p.Gln914Ter) c.5884C>T (p.Gln1962Ter) c.6001C>T (p.Gln2001Ter) c.5887C>T (p.Gln1963Ter) c.5950C>T (p.Gln1984Ter) c.5998C>T (p.Gln2000Ter) c.5980C>T (p.Gln1994Ter) c.5908C>T (p.Gln1970Ter) c.5935C>T (p.Gln1979Ter) c.5938C>T (p.Gln1980Ter) c.5977C>T (p.Gln1993Ter) c.5947C>T (p.Gln1983Ter) n.2769C>T c.5842C>T (p.Gln1948Ter) c.5905C>T (p.Gln1969Ter) c.5845C>T (p.Gln1949Ter) c.6043C>T (p.Gln2015Ter) c.6040C>T (p.Gln2014Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.71679174A= | CA1260156880 | DYSF | c.3416A= (p.Gln1139=) c.2633A= (p.Gln878=) c.2741A= (p.Gln914=) c.5885A= (p.Gln1962=) c.6002A= (p.Gln2001=) c.5888A= (p.Gln1963=) c.5951A= (p.Gln1984=) c.5999A= (p.Gln2000=) c.5981A= (p.Gln1994=) c.5909A= (p.Gln1970=) c.5936A= (p.Gln1979=) c.5939A= (p.Gln1980=) c.5978A= (p.Gln1993=) c.5948A= (p.Gln1983=) n.2770A= c.5843A= (p.Gln1948=) c.5906A= (p.Gln1969=) c.5846A= (p.Gln1949=) c.6044A= (p.Gln2015=) c.6041A= (p.Gln2014=) | |
2 | g.71679174A>C | CA347226464 | DYSF | c.3416A>C (p.Gln1139Pro) c.2633A>C (p.Gln878Pro) c.2741A>C (p.Gln914Pro) c.5885A>C (p.Gln1962Pro) c.6002A>C (p.Gln2001Pro) c.5888A>C (p.Gln1963Pro) c.5951A>C (p.Gln1984Pro) c.5999A>C (p.Gln2000Pro) c.5981A>C (p.Gln1994Pro) c.5909A>C (p.Gln1970Pro) c.5936A>C (p.Gln1979Pro) c.5939A>C (p.Gln1980Pro) c.5978A>C (p.Gln1993Pro) c.5948A>C (p.Gln1983Pro) n.2770A>C c.5843A>C (p.Gln1948Pro) c.5906A>C (p.Gln1969Pro) c.5846A>C (p.Gln1949Pro) c.6044A>C (p.Gln2015Pro) c.6041A>C (p.Gln2014Pro) | |
2 | g.71679174A>G | CA347226465 | DYSF | c.3416A>G (p.Gln1139Arg) c.2633A>G (p.Gln878Arg) c.2741A>G (p.Gln914Arg) c.5885A>G (p.Gln1962Arg) c.6002A>G (p.Gln2001Arg) c.5888A>G (p.Gln1963Arg) c.5951A>G (p.Gln1984Arg) c.5999A>G (p.Gln2000Arg) c.5981A>G (p.Gln1994Arg) c.5909A>G (p.Gln1970Arg) c.5936A>G (p.Gln1979Arg) c.5939A>G (p.Gln1980Arg) c.5978A>G (p.Gln1993Arg) c.5948A>G (p.Gln1983Arg) n.2770A>G c.5843A>G (p.Gln1948Arg) c.5906A>G (p.Gln1969Arg) c.5846A>G (p.Gln1949Arg) c.6044A>G (p.Gln2015Arg) c.6041A>G (p.Gln2014Arg) | |
2 | g.71679174A>T | CA347226466 | DYSF | c.3416A>T (p.Gln1139Leu) c.2633A>T (p.Gln878Leu) c.2741A>T (p.Gln914Leu) c.5885A>T (p.Gln1962Leu) c.6002A>T (p.Gln2001Leu) c.5888A>T (p.Gln1963Leu) c.5951A>T (p.Gln1984Leu) c.5999A>T (p.Gln2000Leu) c.5981A>T (p.Gln1994Leu) c.5909A>T (p.Gln1970Leu) c.5936A>T (p.Gln1979Leu) c.5939A>T (p.Gln1980Leu) c.5978A>T (p.Gln1993Leu) c.5948A>T (p.Gln1983Leu) n.2770A>T c.5843A>T (p.Gln1948Leu) c.5906A>T (p.Gln1969Leu) c.5846A>T (p.Gln1949Leu) c.6044A>T (p.Gln2015Leu) c.6041A>T (p.Gln2014Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71679175G>A | CA426704732 | DYSF | c.3417G>A (p.Gln1139=) c.2634G>A (p.Gln878=) c.2742G>A (p.Gln914=) c.5886G>A (p.Gln1962=) c.6003G>A (p.Gln2001=) c.5889G>A (p.Gln1963=) c.5952G>A (p.Gln1984=) c.6000G>A (p.Gln2000=) c.5982G>A (p.Gln1994=) c.5910G>A (p.Gln1970=) c.5937G>A (p.Gln1979=) c.5940G>A (p.Gln1980=) c.5979G>A (p.Gln1993=) c.5949G>A (p.Gln1983=) n.2771G>A c.5844G>A (p.Gln1948=) c.5907G>A (p.Gln1969=) c.5847G>A (p.Gln1949=) c.6045G>A (p.Gln2015=) c.6042G>A (p.Gln2014=) | |
2 | g.71679175G>C | CA347226467 | DYSF | c.3417G>C (p.Gln1139His) c.2634G>C (p.Gln878His) c.2742G>C (p.Gln914His) c.5886G>C (p.Gln1962His) c.6003G>C (p.Gln2001His) c.5889G>C (p.Gln1963His) c.5952G>C (p.Gln1984His) c.6000G>C (p.Gln2000His) c.5982G>C (p.Gln1994His) c.5910G>C (p.Gln1970His) c.5937G>C (p.Gln1979His) c.5940G>C (p.Gln1980His) c.5979G>C (p.Gln1993His) c.5949G>C (p.Gln1983His) n.2771G>C c.5844G>C (p.Gln1948His) c.5907G>C (p.Gln1969His) c.5847G>C (p.Gln1949His) c.6045G>C (p.Gln2015His) c.6042G>C (p.Gln2014His) | |
2 | g.71679175G>T | CA347226468 | DYSF | c.3417G>T (p.Gln1139His) c.2634G>T (p.Gln878His) c.2742G>T (p.Gln914His) c.5886G>T (p.Gln1962His) c.6003G>T (p.Gln2001His) c.5889G>T (p.Gln1963His) c.5952G>T (p.Gln1984His) c.6000G>T (p.Gln2000His) c.5982G>T (p.Gln1994His) c.5910G>T (p.Gln1970His) c.5937G>T (p.Gln1979His) c.5940G>T (p.Gln1980His) c.5979G>T (p.Gln1993His) c.5949G>T (p.Gln1983His) n.2771G>T c.5844G>T (p.Gln1948His) c.5907G>T (p.Gln1969His) c.5847G>T (p.Gln1949His) c.6045G>T (p.Gln2015His) c.6042G>T (p.Gln2014His) | |
2 | g.71679176A>C | CA347226469 | DYSF | c.3418A>C (p.Lys1140Gln) c.2635A>C (p.Lys879Gln) c.2743A>C (p.Lys915Gln) c.5887A>C (p.Lys1963Gln) c.6004A>C (p.Lys2002Gln) c.5890A>C (p.Lys1964Gln) c.5953A>C (p.Lys1985Gln) c.6001A>C (p.Lys2001Gln) c.5983A>C (p.Lys1995Gln) c.5911A>C (p.Lys1971Gln) c.5938A>C (p.Lys1980Gln) c.5941A>C (p.Lys1981Gln) c.5980A>C (p.Lys1994Gln) c.5950A>C (p.Lys1984Gln) n.2772A>C c.5845A>C (p.Lys1949Gln) c.5908A>C (p.Lys1970Gln) c.5848A>C (p.Lys1950Gln) c.6046A>C (p.Lys2016Gln) c.6043A>C (p.Lys2015Gln) | |
2 | g.71679176A>G | CA347226470 | DYSF | c.3418A>G (p.Lys1140Glu) c.2635A>G (p.Lys879Glu) c.2743A>G (p.Lys915Glu) c.5887A>G (p.Lys1963Glu) c.6004A>G (p.Lys2002Glu) c.5890A>G (p.Lys1964Glu) c.5953A>G (p.Lys1985Glu) c.6001A>G (p.Lys2001Glu) c.5983A>G (p.Lys1995Glu) c.5911A>G (p.Lys1971Glu) c.5938A>G (p.Lys1980Glu) c.5941A>G (p.Lys1981Glu) c.5980A>G (p.Lys1994Glu) c.5950A>G (p.Lys1984Glu) n.2772A>G c.5845A>G (p.Lys1949Glu) c.5908A>G (p.Lys1970Glu) c.5848A>G (p.Lys1950Glu) c.6046A>G (p.Lys2016Glu) c.6043A>G (p.Lys2015Glu) | gnomAD v4 |
2 | g.71679176A>T | CA347226471 | DYSF | c.3418A>T (p.Lys1140Ter) c.2635A>T (p.Lys879Ter) c.2743A>T (p.Lys915Ter) c.5887A>T (p.Lys1963Ter) c.6004A>T (p.Lys2002Ter) c.5890A>T (p.Lys1964Ter) c.5953A>T (p.Lys1985Ter) c.6001A>T (p.Lys2001Ter) c.5983A>T (p.Lys1995Ter) c.5911A>T (p.Lys1971Ter) c.5938A>T (p.Lys1980Ter) c.5941A>T (p.Lys1981Ter) c.5980A>T (p.Lys1994Ter) c.5950A>T (p.Lys1984Ter) n.2772A>T c.5845A>T (p.Lys1949Ter) c.5908A>T (p.Lys1970Ter) c.5848A>T (p.Lys1950Ter) c.6046A>T (p.Lys2016Ter) c.6043A>T (p.Lys2015Ter) | |
2 | g.71679177A>C | CA347226472 | DYSF | c.3419A>C (p.Lys1140Thr) c.2636A>C (p.Lys879Thr) c.2744A>C (p.Lys915Thr) c.5888A>C (p.Lys1963Thr) c.6005A>C (p.Lys2002Thr) c.5891A>C (p.Lys1964Thr) c.5954A>C (p.Lys1985Thr) c.6002A>C (p.Lys2001Thr) c.5984A>C (p.Lys1995Thr) c.5912A>C (p.Lys1971Thr) c.5939A>C (p.Lys1980Thr) c.5942A>C (p.Lys1981Thr) c.5981A>C (p.Lys1994Thr) c.5951A>C (p.Lys1984Thr) n.2773A>C c.5846A>C (p.Lys1949Thr) c.5909A>C (p.Lys1970Thr) c.5849A>C (p.Lys1950Thr) c.6047A>C (p.Lys2016Thr) c.6044A>C (p.Lys2015Thr) | |
2 | g.71679177A>G | CA347226473 | DYSF | c.3419A>G (p.Lys1140Arg) c.2636A>G (p.Lys879Arg) c.2744A>G (p.Lys915Arg) c.5888A>G (p.Lys1963Arg) c.6005A>G (p.Lys2002Arg) c.5891A>G (p.Lys1964Arg) c.5954A>G (p.Lys1985Arg) c.6002A>G (p.Lys2001Arg) c.5984A>G (p.Lys1995Arg) c.5912A>G (p.Lys1971Arg) c.5939A>G (p.Lys1980Arg) c.5942A>G (p.Lys1981Arg) c.5981A>G (p.Lys1994Arg) c.5951A>G (p.Lys1984Arg) n.2773A>G c.5846A>G (p.Lys1949Arg) c.5909A>G (p.Lys1970Arg) c.5849A>G (p.Lys1950Arg) c.6047A>G (p.Lys2016Arg) c.6044A>G (p.Lys2015Arg) | |
2 | g.71679177A>T | CA347226474 | DYSF | c.3419A>T (p.Lys1140Ile) c.2636A>T (p.Lys879Ile) c.2744A>T (p.Lys915Ile) c.5888A>T (p.Lys1963Ile) c.6005A>T (p.Lys2002Ile) c.5891A>T (p.Lys1964Ile) c.5954A>T (p.Lys1985Ile) c.6002A>T (p.Lys2001Ile) c.5984A>T (p.Lys1995Ile) c.5912A>T (p.Lys1971Ile) c.5939A>T (p.Lys1980Ile) c.5942A>T (p.Lys1981Ile) c.5981A>T (p.Lys1994Ile) c.5951A>T (p.Lys1984Ile) n.2773A>T c.5846A>T (p.Lys1949Ile) c.5909A>T (p.Lys1970Ile) c.5849A>T (p.Lys1950Ile) c.6047A>T (p.Lys2016Ile) c.6044A>T (p.Lys2015Ile) | |
2 | g.71679178A>C | CA347226475 | DYSF | c.3420A>C (p.Lys1140Asn) c.2637A>C (p.Lys879Asn) c.2745A>C (p.Lys915Asn) c.5889A>C (p.Lys1963Asn) c.6006A>C (p.Lys2002Asn) c.5892A>C (p.Lys1964Asn) c.5955A>C (p.Lys1985Asn) c.6003A>C (p.Lys2001Asn) c.5985A>C (p.Lys1995Asn) c.5913A>C (p.Lys1971Asn) c.5940A>C (p.Lys1980Asn) c.5943A>C (p.Lys1981Asn) c.5982A>C (p.Lys1994Asn) c.5952A>C (p.Lys1984Asn) n.2774A>C c.5847A>C (p.Lys1949Asn) c.5910A>C (p.Lys1970Asn) c.5850A>C (p.Lys1950Asn) c.6048A>C (p.Lys2016Asn) c.6045A>C (p.Lys2015Asn) | |
2 | g.71679178A>G | CA426704733 | DYSF | c.3420A>G (p.Lys1140=) c.2637A>G (p.Lys879=) c.2745A>G (p.Lys915=) c.5889A>G (p.Lys1963=) c.6006A>G (p.Lys2002=) c.5892A>G (p.Lys1964=) c.5955A>G (p.Lys1985=) c.6003A>G (p.Lys2001=) c.5985A>G (p.Lys1995=) c.5913A>G (p.Lys1971=) c.5940A>G (p.Lys1980=) c.5943A>G (p.Lys1981=) c.5982A>G (p.Lys1994=) c.5952A>G (p.Lys1984=) n.2774A>G c.5847A>G (p.Lys1949=) c.5910A>G (p.Lys1970=) c.5850A>G (p.Lys1950=) c.6048A>G (p.Lys2016=) c.6045A>G (p.Lys2015=) | |
2 | g.71679178A>T | CA347226476 | DYSF | c.3420A>T (p.Lys1140Asn) c.2637A>T (p.Lys879Asn) c.2745A>T (p.Lys915Asn) c.5889A>T (p.Lys1963Asn) c.6006A>T (p.Lys2002Asn) c.5892A>T (p.Lys1964Asn) c.5955A>T (p.Lys1985Asn) c.6003A>T (p.Lys2001Asn) c.5985A>T (p.Lys1995Asn) c.5913A>T (p.Lys1971Asn) c.5940A>T (p.Lys1980Asn) c.5943A>T (p.Lys1981Asn) c.5982A>T (p.Lys1994Asn) c.5952A>T (p.Lys1984Asn) n.2774A>T c.5847A>T (p.Lys1949Asn) c.5910A>T (p.Lys1970Asn) c.5850A>T (p.Lys1950Asn) c.6048A>T (p.Lys2016Asn) c.6045A>T (p.Lys2015Asn) | |
2 | g.71679179A>C | CA347226477 | DYSF | c.3421A>C (p.Thr1141Pro) c.2638A>C (p.Thr880Pro) c.2746A>C (p.Thr916Pro) c.5890A>C (p.Thr1964Pro) c.6007A>C (p.Thr2003Pro) c.5893A>C (p.Thr1965Pro) c.5956A>C (p.Thr1986Pro) c.6004A>C (p.Thr2002Pro) c.5986A>C (p.Thr1996Pro) c.5914A>C (p.Thr1972Pro) c.5941A>C (p.Thr1981Pro) c.5944A>C (p.Thr1982Pro) c.5983A>C (p.Thr1995Pro) c.5953A>C (p.Thr1985Pro) n.2775A>C c.5848A>C (p.Thr1950Pro) c.5911A>C (p.Thr1971Pro) c.5851A>C (p.Thr1951Pro) c.6049A>C (p.Thr2017Pro) c.6046A>C (p.Thr2016Pro) | |
2 | g.71679179A>G | CA347226478 | DYSF | c.3421A>G (p.Thr1141Ala) c.2638A>G (p.Thr880Ala) c.2746A>G (p.Thr916Ala) c.5890A>G (p.Thr1964Ala) c.6007A>G (p.Thr2003Ala) c.5893A>G (p.Thr1965Ala) c.5956A>G (p.Thr1986Ala) c.6004A>G (p.Thr2002Ala) c.5986A>G (p.Thr1996Ala) c.5914A>G (p.Thr1972Ala) c.5941A>G (p.Thr1981Ala) c.5944A>G (p.Thr1982Ala) c.5983A>G (p.Thr1995Ala) c.5953A>G (p.Thr1985Ala) n.2775A>G c.5848A>G (p.Thr1950Ala) c.5911A>G (p.Thr1971Ala) c.5851A>G (p.Thr1951Ala) c.6049A>G (p.Thr2017Ala) c.6046A>G (p.Thr2016Ala) | gnomAD v4 |
2 | g.71679179A>T | CA347226479 | DYSF | c.3421A>T (p.Thr1141Ser) c.2638A>T (p.Thr880Ser) c.2746A>T (p.Thr916Ser) c.5890A>T (p.Thr1964Ser) c.6007A>T (p.Thr2003Ser) c.5893A>T (p.Thr1965Ser) c.5956A>T (p.Thr1986Ser) c.6004A>T (p.Thr2002Ser) c.5986A>T (p.Thr1996Ser) c.5914A>T (p.Thr1972Ser) c.5941A>T (p.Thr1981Ser) c.5944A>T (p.Thr1982Ser) c.5983A>T (p.Thr1995Ser) c.5953A>T (p.Thr1985Ser) n.2775A>T c.5848A>T (p.Thr1950Ser) c.5911A>T (p.Thr1971Ser) c.5851A>T (p.Thr1951Ser) c.6049A>T (p.Thr2017Ser) c.6046A>T (p.Thr2016Ser) | |
2 | g.71679180C>A | CA347226480 | DYSF | c.3422C>A (p.Thr1141Lys) c.2639C>A (p.Thr880Lys) c.2747C>A (p.Thr916Lys) c.5891C>A (p.Thr1964Lys) c.6008C>A (p.Thr2003Lys) c.5894C>A (p.Thr1965Lys) c.5957C>A (p.Thr1986Lys) c.6005C>A (p.Thr2002Lys) c.5987C>A (p.Thr1996Lys) c.5915C>A (p.Thr1972Lys) c.5942C>A (p.Thr1981Lys) c.5945C>A (p.Thr1982Lys) c.5984C>A (p.Thr1995Lys) c.5954C>A (p.Thr1985Lys) n.2776C>A c.5849C>A (p.Thr1950Lys) c.5912C>A (p.Thr1971Lys) c.5852C>A (p.Thr1951Lys) c.6050C>A (p.Thr2017Lys) c.6047C>A (p.Thr2016Lys) | |
2 | g.71679180C= | CA1260156881 | DYSF | c.3422C= (p.Thr1141=) c.2639C= (p.Thr880=) c.2747C= (p.Thr916=) c.5891C= (p.Thr1964=) c.6008C= (p.Thr2003=) c.5894C= (p.Thr1965=) c.5957C= (p.Thr1986=) c.6005C= (p.Thr2002=) c.5987C= (p.Thr1996=) c.5915C= (p.Thr1972=) c.5942C= (p.Thr1981=) c.5945C= (p.Thr1982=) c.5984C= (p.Thr1995=) c.5954C= (p.Thr1985=) n.2776C= c.5849C= (p.Thr1950=) c.5912C= (p.Thr1971=) c.5852C= (p.Thr1951=) c.6050C= (p.Thr2017=) c.6047C= (p.Thr2016=) | |
2 | g.71679180C>G | CA347226481 | DYSF | c.3422C>G (p.Thr1141Arg) c.2639C>G (p.Thr880Arg) c.2747C>G (p.Thr916Arg) c.5891C>G (p.Thr1964Arg) c.6008C>G (p.Thr2003Arg) c.5894C>G (p.Thr1965Arg) c.5957C>G (p.Thr1986Arg) c.6005C>G (p.Thr2002Arg) c.5987C>G (p.Thr1996Arg) c.5915C>G (p.Thr1972Arg) c.5942C>G (p.Thr1981Arg) c.5945C>G (p.Thr1982Arg) c.5984C>G (p.Thr1995Arg) c.5954C>G (p.Thr1985Arg) n.2776C>G c.5849C>G (p.Thr1950Arg) c.5912C>G (p.Thr1971Arg) c.5852C>G (p.Thr1951Arg) c.6050C>G (p.Thr2017Arg) c.6047C>G (p.Thr2016Arg) | |
2 | g.71679180C>T | CA1707564 | DYSF | c.3422C>T (p.Thr1141Ile) c.2639C>T (p.Thr880Ile) c.2747C>T (p.Thr916Ile) c.5891C>T (p.Thr1964Ile) c.6008C>T (p.Thr2003Ile) c.5894C>T (p.Thr1965Ile) c.5957C>T (p.Thr1986Ile) c.6005C>T (p.Thr2002Ile) c.5987C>T (p.Thr1996Ile) c.5915C>T (p.Thr1972Ile) c.5942C>T (p.Thr1981Ile) c.5945C>T (p.Thr1982Ile) c.5984C>T (p.Thr1995Ile) c.5954C>T (p.Thr1985Ile) n.2776C>T c.5849C>T (p.Thr1950Ile) c.5912C>T (p.Thr1971Ile) c.5852C>T (p.Thr1951Ile) c.6050C>T (p.Thr2017Ile) c.6047C>T (p.Thr2016Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71679181A>C | CA426704734 | DYSF | c.3423A>C (p.Thr1141=) c.2640A>C (p.Thr880=) c.2748A>C (p.Thr916=) c.5892A>C (p.Thr1964=) c.6009A>C (p.Thr2003=) c.5895A>C (p.Thr1965=) c.5958A>C (p.Thr1986=) c.6006A>C (p.Thr2002=) c.5988A>C (p.Thr1996=) c.5916A>C (p.Thr1972=) c.5943A>C (p.Thr1981=) c.5946A>C (p.Thr1982=) c.5985A>C (p.Thr1995=) c.5955A>C (p.Thr1985=) n.2777A>C c.5850A>C (p.Thr1950=) c.5913A>C (p.Thr1971=) c.5853A>C (p.Thr1951=) c.6051A>C (p.Thr2017=) c.6048A>C (p.Thr2016=) | |
2 | g.71679181A>G | CA426704735 | DYSF | c.3423A>G (p.Thr1141=) c.2640A>G (p.Thr880=) c.2748A>G (p.Thr916=) c.5892A>G (p.Thr1964=) c.6009A>G (p.Thr2003=) c.5895A>G (p.Thr1965=) c.5958A>G (p.Thr1986=) c.6006A>G (p.Thr2002=) c.5988A>G (p.Thr1996=) c.5916A>G (p.Thr1972=) c.5943A>G (p.Thr1981=) c.5946A>G (p.Thr1982=) c.5985A>G (p.Thr1995=) c.5955A>G (p.Thr1985=) n.2777A>G c.5850A>G (p.Thr1950=) c.5913A>G (p.Thr1971=) c.5853A>G (p.Thr1951=) c.6051A>G (p.Thr2017=) c.6048A>G (p.Thr2016=) | |
2 | g.71679181A>T | CA426704736 | DYSF | c.3423A>T (p.Thr1141=) c.2640A>T (p.Thr880=) c.2748A>T (p.Thr916=) c.5892A>T (p.Thr1964=) c.6009A>T (p.Thr2003=) c.5895A>T (p.Thr1965=) c.5958A>T (p.Thr1986=) c.6006A>T (p.Thr2002=) c.5988A>T (p.Thr1996=) c.5916A>T (p.Thr1972=) c.5943A>T (p.Thr1981=) c.5946A>T (p.Thr1982=) c.5985A>T (p.Thr1995=) c.5955A>T (p.Thr1985=) n.2777A>T c.5850A>T (p.Thr1950=) c.5913A>T (p.Thr1971=) c.5853A>T (p.Thr1951=) c.6051A>T (p.Thr2017=) c.6048A>T (p.Thr2016=) | |
2 | g.71679182G>A | CA347226484 | DYSF | c.3424G>A (p.Val1142Met) c.2641G>A (p.Val881Met) c.2749G>A (p.Val917Met) c.5893G>A (p.Val1965Met) c.6010G>A (p.Val2004Met) c.5896G>A (p.Val1966Met) c.5959G>A (p.Val1987Met) c.6007G>A (p.Val2003Met) c.5989G>A (p.Val1997Met) c.5917G>A (p.Val1973Met) c.5944G>A (p.Val1982Met) c.5947G>A (p.Val1983Met) c.5986G>A (p.Val1996Met) c.5956G>A (p.Val1986Met) n.2778G>A c.5851G>A (p.Val1951Met) c.5914G>A (p.Val1972Met) c.5854G>A (p.Val1952Met) c.6052G>A (p.Val2018Met) c.6049G>A (p.Val2017Met) | |
2 | g.71679182G>C | CA347226483 | DYSF | c.3424G>C (p.Val1142Leu) c.2641G>C (p.Val881Leu) c.2749G>C (p.Val917Leu) c.5893G>C (p.Val1965Leu) c.6010G>C (p.Val2004Leu) c.5896G>C (p.Val1966Leu) c.5959G>C (p.Val1987Leu) c.6007G>C (p.Val2003Leu) c.5989G>C (p.Val1997Leu) c.5917G>C (p.Val1973Leu) c.5944G>C (p.Val1982Leu) c.5947G>C (p.Val1983Leu) c.5986G>C (p.Val1996Leu) c.5956G>C (p.Val1986Leu) n.2778G>C c.5851G>C (p.Val1951Leu) c.5914G>C (p.Val1972Leu) c.5854G>C (p.Val1952Leu) c.6052G>C (p.Val2018Leu) c.6049G>C (p.Val2017Leu) | |
2 | g.71679182G>T | CA347226482 | DYSF | c.3424G>T (p.Val1142Leu) c.2641G>T (p.Val881Leu) c.2749G>T (p.Val917Leu) c.5893G>T (p.Val1965Leu) c.6010G>T (p.Val2004Leu) c.5896G>T (p.Val1966Leu) c.5959G>T (p.Val1987Leu) c.6007G>T (p.Val2003Leu) c.5989G>T (p.Val1997Leu) c.5917G>T (p.Val1973Leu) c.5944G>T (p.Val1982Leu) c.5947G>T (p.Val1983Leu) c.5986G>T (p.Val1996Leu) c.5956G>T (p.Val1986Leu) n.2778G>T c.5851G>T (p.Val1951Leu) c.5914G>T (p.Val1972Leu) c.5854G>T (p.Val1952Leu) c.6052G>T (p.Val2018Leu) c.6049G>T (p.Val2017Leu) | |
2 | g.71679183T>A | CA347226485 | DYSF | c.3425T>A (p.Val1142Glu) c.2642T>A (p.Val881Glu) c.2750T>A (p.Val917Glu) c.5894T>A (p.Val1965Glu) c.6011T>A (p.Val2004Glu) c.5897T>A (p.Val1966Glu) c.5960T>A (p.Val1987Glu) c.6008T>A (p.Val2003Glu) c.5990T>A (p.Val1997Glu) c.5918T>A (p.Val1973Glu) c.5945T>A (p.Val1982Glu) c.5948T>A (p.Val1983Glu) c.5987T>A (p.Val1996Glu) c.5957T>A (p.Val1986Glu) n.2779T>A c.5852T>A (p.Val1951Glu) c.5915T>A (p.Val1972Glu) c.5855T>A (p.Val1952Glu) c.6053T>A (p.Val2018Glu) c.6050T>A (p.Val2017Glu) | |
2 | g.71679183T>C | CA347226486 | DYSF | c.3425T>C (p.Val1142Ala) c.2642T>C (p.Val881Ala) c.2750T>C (p.Val917Ala) c.5894T>C (p.Val1965Ala) c.6011T>C (p.Val2004Ala) c.5897T>C (p.Val1966Ala) c.5960T>C (p.Val1987Ala) c.6008T>C (p.Val2003Ala) c.5990T>C (p.Val1997Ala) c.5918T>C (p.Val1973Ala) c.5945T>C (p.Val1982Ala) c.5948T>C (p.Val1983Ala) c.5987T>C (p.Val1996Ala) c.5957T>C (p.Val1986Ala) n.2779T>C c.5852T>C (p.Val1951Ala) c.5915T>C (p.Val1972Ala) c.5855T>C (p.Val1952Ala) c.6053T>C (p.Val2018Ala) c.6050T>C (p.Val2017Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71679183T>G | CA347226487 | DYSF | c.3425T>G (p.Val1142Gly) c.2642T>G (p.Val881Gly) c.2750T>G (p.Val917Gly) c.5894T>G (p.Val1965Gly) c.6011T>G (p.Val2004Gly) c.5897T>G (p.Val1966Gly) c.5960T>G (p.Val1987Gly) c.6008T>G (p.Val2003Gly) c.5990T>G (p.Val1997Gly) c.5918T>G (p.Val1973Gly) c.5945T>G (p.Val1982Gly) c.5948T>G (p.Val1983Gly) c.5987T>G (p.Val1996Gly) c.5957T>G (p.Val1986Gly) n.2779T>G c.5852T>G (p.Val1951Gly) c.5915T>G (p.Val1972Gly) c.5855T>G (p.Val1952Gly) c.6053T>G (p.Val2018Gly) c.6050T>G (p.Val2017Gly) | |
2 | g.71679183T= | CA1260156882 | DYSF | c.3425T= (p.Val1142=) c.2642T= (p.Val881=) c.2750T= (p.Val917=) c.5894T= (p.Val1965=) c.6011T= (p.Val2004=) c.5897T= (p.Val1966=) c.5960T= (p.Val1987=) c.6008T= (p.Val2003=) c.5990T= (p.Val1997=) c.5918T= (p.Val1973=) c.5945T= (p.Val1982=) c.5948T= (p.Val1983=) c.5987T= (p.Val1996=) c.5957T= (p.Val1986=) n.2779T= c.5852T= (p.Val1951=) c.5915T= (p.Val1972=) c.5855T= (p.Val1952=) c.6053T= (p.Val2018=) c.6050T= (p.Val2017=) | |
2 | g.71679184G>A | CA426704737 | DYSF | c.3426G>A (p.Val1142=) c.2643G>A (p.Val881=) c.2751G>A (p.Val917=) c.5895G>A (p.Val1965=) c.6012G>A (p.Val2004=) c.5898G>A (p.Val1966=) c.5961G>A (p.Val1987=) c.6009G>A (p.Val2003=) c.5991G>A (p.Val1997=) c.5919G>A (p.Val1973=) c.5946G>A (p.Val1982=) c.5949G>A (p.Val1983=) c.5988G>A (p.Val1996=) c.5958G>A (p.Val1986=) n.2780G>A c.5853G>A (p.Val1951=) c.5916G>A (p.Val1972=) c.5856G>A (p.Val1952=) c.6054G>A (p.Val2018=) c.6051G>A (p.Val2017=) | ClinVar |
2 | g.71679184G>C | CA426704738 | DYSF | c.3426G>C (p.Val1142=) c.2643G>C (p.Val881=) c.2751G>C (p.Val917=) c.5895G>C (p.Val1965=) c.6012G>C (p.Val2004=) c.5898G>C (p.Val1966=) c.5961G>C (p.Val1987=) c.6009G>C (p.Val2003=) c.5991G>C (p.Val1997=) c.5919G>C (p.Val1973=) c.5946G>C (p.Val1982=) c.5949G>C (p.Val1983=) c.5988G>C (p.Val1996=) c.5958G>C (p.Val1986=) n.2780G>C c.5853G>C (p.Val1951=) c.5916G>C (p.Val1972=) c.5856G>C (p.Val1952=) c.6054G>C (p.Val2018=) c.6051G>C (p.Val2017=) | |
2 | g.71679184G>T | CA426704739 | DYSF | c.3426G>T (p.Val1142=) c.2643G>T (p.Val881=) c.2751G>T (p.Val917=) c.5895G>T (p.Val1965=) c.6012G>T (p.Val2004=) c.5898G>T (p.Val1966=) c.5961G>T (p.Val1987=) c.6009G>T (p.Val2003=) c.5991G>T (p.Val1997=) c.5919G>T (p.Val1973=) c.5946G>T (p.Val1982=) c.5949G>T (p.Val1983=) c.5988G>T (p.Val1996=) c.5958G>T (p.Val1986=) n.2780G>T c.5853G>T (p.Val1951=) c.5916G>T (p.Val1972=) c.5856G>T (p.Val1952=) c.6054G>T (p.Val2018=) c.6051G>T (p.Val2017=) | |
2 | g.71679185A>C | CA347226488 | DYSF | c.3427A>C (p.Lys1143Gln) c.2644A>C (p.Lys882Gln) c.2752A>C (p.Lys918Gln) c.5896A>C (p.Lys1966Gln) c.6013A>C (p.Lys2005Gln) c.5899A>C (p.Lys1967Gln) c.5962A>C (p.Lys1988Gln) c.6010A>C (p.Lys2004Gln) c.5992A>C (p.Lys1998Gln) c.5920A>C (p.Lys1974Gln) c.5947A>C (p.Lys1983Gln) c.5950A>C (p.Lys1984Gln) c.5989A>C (p.Lys1997Gln) c.5959A>C (p.Lys1987Gln) n.2781A>C c.5854A>C (p.Lys1952Gln) c.5917A>C (p.Lys1973Gln) c.5857A>C (p.Lys1953Gln) c.6055A>C (p.Lys2019Gln) c.6052A>C (p.Lys2018Gln) | |
2 | g.71679185A>G | CA347226489 | DYSF | c.3427A>G (p.Lys1143Glu) c.2644A>G (p.Lys882Glu) c.2752A>G (p.Lys918Glu) c.5896A>G (p.Lys1966Glu) c.6013A>G (p.Lys2005Glu) c.5899A>G (p.Lys1967Glu) c.5962A>G (p.Lys1988Glu) c.6010A>G (p.Lys2004Glu) c.5992A>G (p.Lys1998Glu) c.5920A>G (p.Lys1974Glu) c.5947A>G (p.Lys1983Glu) c.5950A>G (p.Lys1984Glu) c.5989A>G (p.Lys1997Glu) c.5959A>G (p.Lys1987Glu) n.2781A>G c.5854A>G (p.Lys1952Glu) c.5917A>G (p.Lys1973Glu) c.5857A>G (p.Lys1953Glu) c.6055A>G (p.Lys2019Glu) c.6052A>G (p.Lys2018Glu) | |
2 | g.71679185A>T | CA347226490 | DYSF | c.3427A>T (p.Lys1143Ter) c.2644A>T (p.Lys882Ter) c.2752A>T (p.Lys918Ter) c.5896A>T (p.Lys1966Ter) c.6013A>T (p.Lys2005Ter) c.5899A>T (p.Lys1967Ter) c.5962A>T (p.Lys1988Ter) c.6010A>T (p.Lys2004Ter) c.5992A>T (p.Lys1998Ter) c.5920A>T (p.Lys1974Ter) c.5947A>T (p.Lys1983Ter) c.5950A>T (p.Lys1984Ter) c.5989A>T (p.Lys1997Ter) c.5959A>T (p.Lys1987Ter) n.2781A>T c.5854A>T (p.Lys1952Ter) c.5917A>T (p.Lys1973Ter) c.5857A>T (p.Lys1953Ter) c.6055A>T (p.Lys2019Ter) c.6052A>T (p.Lys2018Ter) | |
2 | g.71679186A>C | CA347226491 | DYSF | c.3428A>C (p.Lys1143Thr) c.2645A>C (p.Lys882Thr) c.2753A>C (p.Lys918Thr) c.5897A>C (p.Lys1966Thr) c.6014A>C (p.Lys2005Thr) c.5900A>C (p.Lys1967Thr) c.5963A>C (p.Lys1988Thr) c.6011A>C (p.Lys2004Thr) c.5993A>C (p.Lys1998Thr) c.5921A>C (p.Lys1974Thr) c.5948A>C (p.Lys1983Thr) c.5951A>C (p.Lys1984Thr) c.5990A>C (p.Lys1997Thr) c.5960A>C (p.Lys1987Thr) n.2782A>C c.5855A>C (p.Lys1952Thr) c.5918A>C (p.Lys1973Thr) c.5858A>C (p.Lys1953Thr) c.6056A>C (p.Lys2019Thr) c.6053A>C (p.Lys2018Thr) | |
2 | g.71679186A>G | CA347226493 | DYSF | c.3428A>G (p.Lys1143Arg) c.2645A>G (p.Lys882Arg) c.2753A>G (p.Lys918Arg) c.5897A>G (p.Lys1966Arg) c.6014A>G (p.Lys2005Arg) c.5900A>G (p.Lys1967Arg) c.5963A>G (p.Lys1988Arg) c.6011A>G (p.Lys2004Arg) c.5993A>G (p.Lys1998Arg) c.5921A>G (p.Lys1974Arg) c.5948A>G (p.Lys1983Arg) c.5951A>G (p.Lys1984Arg) c.5990A>G (p.Lys1997Arg) c.5960A>G (p.Lys1987Arg) n.2782A>G c.5855A>G (p.Lys1952Arg) c.5918A>G (p.Lys1973Arg) c.5858A>G (p.Lys1953Arg) c.6056A>G (p.Lys2019Arg) c.6053A>G (p.Lys2018Arg) | |
2 | g.71679186A>T | CA347226492 | DYSF | c.3428A>T (p.Lys1143Met) c.2645A>T (p.Lys882Met) c.2753A>T (p.Lys918Met) c.5897A>T (p.Lys1966Met) c.6014A>T (p.Lys2005Met) c.5900A>T (p.Lys1967Met) c.5963A>T (p.Lys1988Met) c.6011A>T (p.Lys2004Met) c.5993A>T (p.Lys1998Met) c.5921A>T (p.Lys1974Met) c.5948A>T (p.Lys1983Met) c.5951A>T (p.Lys1984Met) c.5990A>T (p.Lys1997Met) c.5960A>T (p.Lys1987Met) n.2782A>T c.5855A>T (p.Lys1952Met) c.5918A>T (p.Lys1973Met) c.5858A>T (p.Lys1953Met) c.6056A>T (p.Lys2019Met) c.6053A>T (p.Lys2018Met) | |
2 | g.71679187G>A | CA426704740 | DYSF | c.3429G>A (p.Lys1143=) c.2646G>A (p.Lys882=) c.2754G>A (p.Lys918=) c.5898G>A (p.Lys1966=) c.6015G>A (p.Lys2005=) c.5901G>A (p.Lys1967=) c.5964G>A (p.Lys1988=) c.6012G>A (p.Lys2004=) c.5994G>A (p.Lys1998=) c.5922G>A (p.Lys1974=) c.5949G>A (p.Lys1983=) c.5952G>A (p.Lys1984=) c.5991G>A (p.Lys1997=) c.5961G>A (p.Lys1987=) n.2783G>A c.5856G>A (p.Lys1952=) c.5919G>A (p.Lys1973=) c.5859G>A (p.Lys1953=) c.6057G>A (p.Lys2019=) c.6054G>A (p.Lys2018=) | gnomAD v4 |
2 | g.71679187G>C | CA347226494 | DYSF | c.3429G>C (p.Lys1143Asn) c.2646G>C (p.Lys882Asn) c.2754G>C (p.Lys918Asn) c.5898G>C (p.Lys1966Asn) c.6015G>C (p.Lys2005Asn) c.5901G>C (p.Lys1967Asn) c.5964G>C (p.Lys1988Asn) c.6012G>C (p.Lys2004Asn) c.5994G>C (p.Lys1998Asn) c.5922G>C (p.Lys1974Asn) c.5949G>C (p.Lys1983Asn) c.5952G>C (p.Lys1984Asn) c.5991G>C (p.Lys1997Asn) c.5961G>C (p.Lys1987Asn) n.2783G>C c.5856G>C (p.Lys1952Asn) c.5919G>C (p.Lys1973Asn) c.5859G>C (p.Lys1953Asn) c.6057G>C (p.Lys2019Asn) c.6054G>C (p.Lys2018Asn) | |
2 | g.71679187G>T | CA347226495 | DYSF | c.3429G>T (p.Lys1143Asn) c.2646G>T (p.Lys882Asn) c.2754G>T (p.Lys918Asn) c.5898G>T (p.Lys1966Asn) c.6015G>T (p.Lys2005Asn) c.5901G>T (p.Lys1967Asn) c.5964G>T (p.Lys1988Asn) c.6012G>T (p.Lys2004Asn) c.5994G>T (p.Lys1998Asn) c.5922G>T (p.Lys1974Asn) c.5949G>T (p.Lys1983Asn) c.5952G>T (p.Lys1984Asn) c.5991G>T (p.Lys1997Asn) c.5961G>T (p.Lys1987Asn) n.2783G>T c.5856G>T (p.Lys1952Asn) c.5919G>T (p.Lys1973Asn) c.5859G>T (p.Lys1953Asn) c.6057G>T (p.Lys2019Asn) c.6054G>T (p.Lys2018Asn) | |
2 | g.71679189del | CA645530575 | DYSF | c.3431del (p.Gly1144AlafsTer6) c.2648del (p.Gly883AlafsTer6) c.2756del (p.Gly919AlafsTer6) c.5900del (p.Gly1967AlafsTer6) c.6017del (p.Gly2006AlafsTer6) c.5903del (p.Gly1968AlafsTer6) c.5966del (p.Gly1989AlafsTer6) c.6014del (p.Gly2005AlafsTer6) c.5996del (p.Gly1999AlafsTer6) c.5924del (p.Gly1975AlafsTer6) c.5951del (p.Gly1984AlafsTer6) c.5954del (p.Gly1985AlafsTer6) c.5993del (p.Gly1998AlafsTer6) c.5963del (p.Gly1988AlafsTer6) n.2785del c.5858del (p.Gly1953AlafsTer6) c.5921del (p.Gly1974AlafsTer6) c.5861del (p.Gly1954AlafsTer6) c.6059del (p.Gly2020AlafsTer6) c.6056del (p.Gly2019AlafsTer6) | COSMIC COSMIC |
2 | g.71679188G>A | CA347226496 | DYSF | c.3430G>A (p.Gly1144Ser) c.2647G>A (p.Gly883Ser) c.2755G>A (p.Gly919Ser) c.5899G>A (p.Gly1967Ser) c.6016G>A (p.Gly2006Ser) c.5902G>A (p.Gly1968Ser) c.5965G>A (p.Gly1989Ser) c.6013G>A (p.Gly2005Ser) c.5995G>A (p.Gly1999Ser) c.5923G>A (p.Gly1975Ser) c.5950G>A (p.Gly1984Ser) c.5953G>A (p.Gly1985Ser) c.5992G>A (p.Gly1998Ser) c.5962G>A (p.Gly1988Ser) n.2784G>A c.5857G>A (p.Gly1953Ser) c.5920G>A (p.Gly1974Ser) c.5860G>A (p.Gly1954Ser) c.6058G>A (p.Gly2020Ser) c.6055G>A (p.Gly2019Ser) | gnomAD v4 |
2 | g.71679188G>C | CA347226497 | DYSF | c.3430G>C (p.Gly1144Arg) c.2647G>C (p.Gly883Arg) c.2755G>C (p.Gly919Arg) c.5899G>C (p.Gly1967Arg) c.6016G>C (p.Gly2006Arg) c.5902G>C (p.Gly1968Arg) c.5965G>C (p.Gly1989Arg) c.6013G>C (p.Gly2005Arg) c.5995G>C (p.Gly1999Arg) c.5923G>C (p.Gly1975Arg) c.5950G>C (p.Gly1984Arg) c.5953G>C (p.Gly1985Arg) c.5992G>C (p.Gly1998Arg) c.5962G>C (p.Gly1988Arg) n.2784G>C c.5857G>C (p.Gly1953Arg) c.5920G>C (p.Gly1974Arg) c.5860G>C (p.Gly1954Arg) c.6058G>C (p.Gly2020Arg) c.6055G>C (p.Gly2019Arg) | |
2 | g.71679188G>T | CA347226498 | DYSF | c.3430G>T (p.Gly1144Cys) c.2647G>T (p.Gly883Cys) c.2755G>T (p.Gly919Cys) c.5899G>T (p.Gly1967Cys) c.6016G>T (p.Gly2006Cys) c.5902G>T (p.Gly1968Cys) c.5965G>T (p.Gly1989Cys) c.6013G>T (p.Gly2005Cys) c.5995G>T (p.Gly1999Cys) c.5923G>T (p.Gly1975Cys) c.5950G>T (p.Gly1984Cys) c.5953G>T (p.Gly1985Cys) c.5992G>T (p.Gly1998Cys) c.5962G>T (p.Gly1988Cys) n.2784G>T c.5857G>T (p.Gly1953Cys) c.5920G>T (p.Gly1974Cys) c.5860G>T (p.Gly1954Cys) c.6058G>T (p.Gly2020Cys) c.6055G>T (p.Gly2019Cys) | |
2 | g.71679189G>A | CA347226499 | DYSF | c.3431G>A (p.Gly1144Asp) c.2648G>A (p.Gly883Asp) c.2756G>A (p.Gly919Asp) c.5900G>A (p.Gly1967Asp) c.6017G>A (p.Gly2006Asp) c.5903G>A (p.Gly1968Asp) c.5966G>A (p.Gly1989Asp) c.6014G>A (p.Gly2005Asp) c.5996G>A (p.Gly1999Asp) c.5924G>A (p.Gly1975Asp) c.5951G>A (p.Gly1984Asp) c.5954G>A (p.Gly1985Asp) c.5993G>A (p.Gly1998Asp) c.5963G>A (p.Gly1988Asp) n.2785G>A c.5858G>A (p.Gly1953Asp) c.5921G>A (p.Gly1974Asp) c.5861G>A (p.Gly1954Asp) c.6059G>A (p.Gly2020Asp) c.6056G>A (p.Gly2019Asp) | |
2 | g.71679189G>C | CA347226500 | DYSF | c.3431G>C (p.Gly1144Ala) c.2648G>C (p.Gly883Ala) c.2756G>C (p.Gly919Ala) c.5900G>C (p.Gly1967Ala) c.6017G>C (p.Gly2006Ala) c.5903G>C (p.Gly1968Ala) c.5966G>C (p.Gly1989Ala) c.6014G>C (p.Gly2005Ala) c.5996G>C (p.Gly1999Ala) c.5924G>C (p.Gly1975Ala) c.5951G>C (p.Gly1984Ala) c.5954G>C (p.Gly1985Ala) c.5993G>C (p.Gly1998Ala) c.5963G>C (p.Gly1988Ala) n.2785G>C c.5858G>C (p.Gly1953Ala) c.5921G>C (p.Gly1974Ala) c.5861G>C (p.Gly1954Ala) c.6059G>C (p.Gly2020Ala) c.6056G>C (p.Gly2019Ala) | |
2 | g.71679189G>T | CA347226501 | DYSF | c.3431G>T (p.Gly1144Val) c.2648G>T (p.Gly883Val) c.2756G>T (p.Gly919Val) c.5900G>T (p.Gly1967Val) c.6017G>T (p.Gly2006Val) c.5903G>T (p.Gly1968Val) c.5966G>T (p.Gly1989Val) c.6014G>T (p.Gly2005Val) c.5996G>T (p.Gly1999Val) c.5924G>T (p.Gly1975Val) c.5951G>T (p.Gly1984Val) c.5954G>T (p.Gly1985Val) c.5993G>T (p.Gly1998Val) c.5963G>T (p.Gly1988Val) n.2785G>T c.5858G>T (p.Gly1953Val) c.5921G>T (p.Gly1974Val) c.5861G>T (p.Gly1954Val) c.6059G>T (p.Gly2020Val) c.6056G>T (p.Gly2019Val) | gnomAD v4 |
2 | g.71679190C>A | CA426704742 | DYSF | c.3432C>A (p.Gly1144=) c.2649C>A (p.Gly883=) c.2757C>A (p.Gly919=) c.5901C>A (p.Gly1967=) c.6018C>A (p.Gly2006=) c.5904C>A (p.Gly1968=) c.5967C>A (p.Gly1989=) c.6015C>A (p.Gly2005=) c.5997C>A (p.Gly1999=) c.5925C>A (p.Gly1975=) c.5952C>A (p.Gly1984=) c.5955C>A (p.Gly1985=) c.5994C>A (p.Gly1998=) c.5964C>A (p.Gly1988=) n.2786C>A c.5859C>A (p.Gly1953=) c.5922C>A (p.Gly1974=) c.5862C>A (p.Gly1954=) c.6060C>A (p.Gly2020=) c.6057C>A (p.Gly2019=) | |
2 | g.71679190C>G | CA426704743 | DYSF | c.3432C>G (p.Gly1144=) c.2649C>G (p.Gly883=) c.2757C>G (p.Gly919=) c.5901C>G (p.Gly1967=) c.6018C>G (p.Gly2006=) c.5904C>G (p.Gly1968=) c.5967C>G (p.Gly1989=) c.6015C>G (p.Gly2005=) c.5997C>G (p.Gly1999=) c.5925C>G (p.Gly1975=) c.5952C>G (p.Gly1984=) c.5955C>G (p.Gly1985=) c.5994C>G (p.Gly1998=) c.5964C>G (p.Gly1988=) n.2786C>G c.5859C>G (p.Gly1953=) c.5922C>G (p.Gly1974=) c.5862C>G (p.Gly1954=) c.6060C>G (p.Gly2020=) c.6057C>G (p.Gly2019=) | |
2 | g.71679190C>T | CA426704741 | DYSF | c.3432C>T (p.Gly1144=) c.2649C>T (p.Gly883=) c.2757C>T (p.Gly919=) c.5901C>T (p.Gly1967=) c.6018C>T (p.Gly2006=) c.5904C>T (p.Gly1968=) c.5967C>T (p.Gly1989=) c.6015C>T (p.Gly2005=) c.5997C>T (p.Gly1999=) c.5925C>T (p.Gly1975=) c.5952C>T (p.Gly1984=) c.5955C>T (p.Gly1985=) c.5994C>T (p.Gly1998=) c.5964C>T (p.Gly1988=) n.2786C>T c.5859C>T (p.Gly1953=) c.5922C>T (p.Gly1974=) c.5862C>T (p.Gly1954=) c.6060C>T (p.Gly2020=) c.6057C>T (p.Gly2019=) | |
2 | g.71679191T>A | CA347226502 | DYSF | c.3433T>A (p.Trp1145Arg) c.2650T>A (p.Trp884Arg) c.2758T>A (p.Trp920Arg) c.5902T>A (p.Trp1968Arg) c.6019T>A (p.Trp2007Arg) c.5905T>A (p.Trp1969Arg) c.5968T>A (p.Trp1990Arg) c.6016T>A (p.Trp2006Arg) c.5998T>A (p.Trp2000Arg) c.5926T>A (p.Trp1976Arg) c.5953T>A (p.Trp1985Arg) c.5956T>A (p.Trp1986Arg) c.5995T>A (p.Trp1999Arg) c.5965T>A (p.Trp1989Arg) n.2787T>A c.5860T>A (p.Trp1954Arg) c.5923T>A (p.Trp1975Arg) c.5863T>A (p.Trp1955Arg) c.6061T>A (p.Trp2021Arg) c.6058T>A (p.Trp2020Arg) | |
2 | g.71679191T>C | CA10605224 | DYSF | c.3433T>C (p.Trp1145Arg) c.2650T>C (p.Trp884Arg) c.2758T>C (p.Trp920Arg) c.5902T>C (p.Trp1968Arg) c.6019T>C (p.Trp2007Arg) c.5905T>C (p.Trp1969Arg) c.5968T>C (p.Trp1990Arg) c.6016T>C (p.Trp2006Arg) c.5998T>C (p.Trp2000Arg) c.5926T>C (p.Trp1976Arg) c.5953T>C (p.Trp1985Arg) c.5956T>C (p.Trp1986Arg) c.5995T>C (p.Trp1999Arg) c.5965T>C (p.Trp1989Arg) n.2787T>C c.5860T>C (p.Trp1954Arg) c.5923T>C (p.Trp1975Arg) c.5863T>C (p.Trp1955Arg) c.6061T>C (p.Trp2021Arg) c.6058T>C (p.Trp2020Arg) | ClinVar dbSNP |
2 | g.71679191T>G | CA347226503 | DYSF | c.3433T>G (p.Trp1145Gly) c.2650T>G (p.Trp884Gly) c.2758T>G (p.Trp920Gly) c.5902T>G (p.Trp1968Gly) c.6019T>G (p.Trp2007Gly) c.5905T>G (p.Trp1969Gly) c.5968T>G (p.Trp1990Gly) c.6016T>G (p.Trp2006Gly) c.5998T>G (p.Trp2000Gly) c.5926T>G (p.Trp1976Gly) c.5953T>G (p.Trp1985Gly) c.5956T>G (p.Trp1986Gly) c.5995T>G (p.Trp1999Gly) c.5965T>G (p.Trp1989Gly) n.2787T>G c.5860T>G (p.Trp1954Gly) c.5923T>G (p.Trp1975Gly) c.5863T>G (p.Trp1955Gly) c.6061T>G (p.Trp2021Gly) c.6058T>G (p.Trp2020Gly) | |
2 | g.71679191T= | CA1260156883 | DYSF | c.3433T= (p.Trp1145=) c.2650T= (p.Trp884=) c.2758T= (p.Trp920=) c.5902T= (p.Trp1968=) c.6019T= (p.Trp2007=) c.5905T= (p.Trp1969=) c.5968T= (p.Trp1990=) c.6016T= (p.Trp2006=) c.5998T= (p.Trp2000=) c.5926T= (p.Trp1976=) c.5953T= (p.Trp1985=) c.5956T= (p.Trp1986=) c.5995T= (p.Trp1999=) c.5965T= (p.Trp1989=) n.2787T= c.5860T= (p.Trp1954=) c.5923T= (p.Trp1975=) c.5863T= (p.Trp1955=) c.6061T= (p.Trp2021=) c.6058T= (p.Trp2020=) | |
2 | g.71679191_71679192insACACA | CA2695200823 | DYSF | c.3433_3434insACACA (p.Trp1145TyrfsTer7) c.2650_2651insACACA (p.Trp884TyrfsTer7) c.2758_2759insACACA (p.Trp920TyrfsTer7) c.5902_5903insACACA (p.Trp1968TyrfsTer7) c.6019_6020insACACA (p.Trp2007TyrfsTer7) c.5905_5906insACACA (p.Trp1969TyrfsTer7) c.5968_5969insACACA (p.Trp1990TyrfsTer7) c.6016_6017insACACA (p.Trp2006TyrfsTer7) c.5998_5999insACACA (p.Trp2000TyrfsTer7) c.5926_5927insACACA (p.Trp1976TyrfsTer7) c.5953_5954insACACA (p.Trp1985TyrfsTer7) c.5956_5957insACACA (p.Trp1986TyrfsTer7) c.5995_5996insACACA (p.Trp1999TyrfsTer7) c.5965_5966insACACA (p.Trp1989TyrfsTer7) n.2787_2788insACACA c.5860_5861insACACA (p.Trp1954TyrfsTer7) c.5923_5924insACACA (p.Trp1975TyrfsTer7) c.5863_5864insACACA (p.Trp1955TyrfsTer7) c.6061_6062insACACA (p.Trp2021TyrfsTer7) c.6058_6059insACACA (p.Trp2020TyrfsTer7) | ClinVar |
2 | g.71679192G>A | CA347226504 | DYSF | c.3434G>A (p.Trp1145Ter) c.2651G>A (p.Trp884Ter) c.2759G>A (p.Trp920Ter) c.5903G>A (p.Trp1968Ter) c.6020G>A (p.Trp2007Ter) c.5906G>A (p.Trp1969Ter) c.5969G>A (p.Trp1990Ter) c.6017G>A (p.Trp2006Ter) c.5999G>A (p.Trp2000Ter) c.5927G>A (p.Trp1976Ter) c.5954G>A (p.Trp1985Ter) c.5957G>A (p.Trp1986Ter) c.5996G>A (p.Trp1999Ter) c.5966G>A (p.Trp1989Ter) n.2788G>A c.5861G>A (p.Trp1954Ter) c.5924G>A (p.Trp1975Ter) c.5864G>A (p.Trp1955Ter) c.6062G>A (p.Trp2021Ter) c.6059G>A (p.Trp2020Ter) | gnomAD v4 |
2 | g.71679192G>C | CA347226506 | DYSF | c.3434G>C (p.Trp1145Ser) c.2651G>C (p.Trp884Ser) c.2759G>C (p.Trp920Ser) c.5903G>C (p.Trp1968Ser) c.6020G>C (p.Trp2007Ser) c.5906G>C (p.Trp1969Ser) c.5969G>C (p.Trp1990Ser) c.6017G>C (p.Trp2006Ser) c.5999G>C (p.Trp2000Ser) c.5927G>C (p.Trp1976Ser) c.5954G>C (p.Trp1985Ser) c.5957G>C (p.Trp1986Ser) c.5996G>C (p.Trp1999Ser) c.5966G>C (p.Trp1989Ser) n.2788G>C c.5861G>C (p.Trp1954Ser) c.5924G>C (p.Trp1975Ser) c.5864G>C (p.Trp1955Ser) c.6062G>C (p.Trp2021Ser) c.6059G>C (p.Trp2020Ser) | |
2 | g.71679192G>T | CA347226505 | DYSF | c.3434G>T (p.Trp1145Leu) c.2651G>T (p.Trp884Leu) c.2759G>T (p.Trp920Leu) c.5903G>T (p.Trp1968Leu) c.6020G>T (p.Trp2007Leu) c.5906G>T (p.Trp1969Leu) c.5969G>T (p.Trp1990Leu) c.6017G>T (p.Trp2006Leu) c.5999G>T (p.Trp2000Leu) c.5927G>T (p.Trp1976Leu) c.5954G>T (p.Trp1985Leu) c.5957G>T (p.Trp1986Leu) c.5996G>T (p.Trp1999Leu) c.5966G>T (p.Trp1989Leu) n.2788G>T c.5861G>T (p.Trp1954Leu) c.5924G>T (p.Trp1975Leu) c.5864G>T (p.Trp1955Leu) c.6062G>T (p.Trp2021Leu) c.6059G>T (p.Trp2020Leu) |