Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71679092_71679100delCA1260156834DYSFc.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
2g.71679102_71679110dupCA2580611655DYSFc.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
2g.71679102_71679110delCA1139532924DYSFc.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
2g.71679099A>CCA347226298DYSFc.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)
2g.71679099A>GCA347226300DYSFc.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)
2g.71679099A>TCA347226299DYSFc.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)
2g.71679100G>ACA426704693DYSFc.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=)
2g.71679100G>CCA347226301DYSFc.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)
2g.71679100G>TCA347226302DYSFc.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)
2g.71679101A=CA1260156844DYSFc.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=)
2g.71679101A>CCA347226303DYSFc.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)
2g.71679101A>GCA347226304DYSFc.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
2g.71679101A>TCA347226305DYSFc.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)
2g.71679102C>ACA347226306DYSFc.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)
2g.71679102C=CA1260156845DYSFc.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=)
2g.71679102C>GCA347226307DYSFc.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)
2g.71679102C>TCA1707552DYSFc.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
2g.71679103A>CCA426704694DYSFc.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=)
2g.71679103A>GCA426704695DYSFc.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=)
2g.71679103A>TCA426704696DYSFc.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=)
2g.71679104G>ACA1707553DYSFc.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
2g.71679104G>CCA347226308DYSFc.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)
2g.71679104G=CA1260156846DYSFc.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=)
2g.71679104G>TCA347226309DYSFc.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)
2g.71679105C>ACA347226312DYSFc.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)
2g.71679105C>GCA347226311DYSFc.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)
2g.71679105C>TCA347226310DYSFc.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)
2g.71679106C>ACA10606158DYSFc.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
2g.71679106C=CA1260156847DYSFc.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=)
2g.71679106C>GCA426704697DYSFc.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=)
2g.71679106C>TCA426704698DYSFc.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
2g.71679107A>CCA347226313DYSFc.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)
2g.71679107A>GCA347226314DYSFc.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
2g.71679107A>TCA347226315DYSFc.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)
2g.71679108A>CCA347226316DYSFc.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)
2g.71679108A>GCA347226317DYSFc.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
2g.71679108A>TCA347226318DYSFc.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)
2g.71679109G>ACA426704699DYSFc.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=)
2g.71679109G>CCA347226319DYSFc.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)
2g.71679109G>TCA347226320DYSFc.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)
2g.71679110A=CA1260156848DYSFc.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=)
2g.71679110A>CCA347226321DYSFc.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)
2g.71679110A>GCA347226322DYSFc.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)
2g.71679110A>TCA347226323DYSFc.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
2g.71679111A=CA1260156849DYSFc.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=)
2g.71679111A>CCA49774338DYSFc.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
2g.71679111A>GCA49774340DYSFc.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
2g.71679111A>TCA1707554DYSFc.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
2g.71679112G>ACA426704700DYSFc.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
2g.71679112G>CCA347226325DYSFc.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)
2g.71679112G>TCA347226324DYSFc.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)
2g.71679113T>ACA347226326DYSFc.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)
2g.71679113T>CCA347226327DYSFc.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)
2g.71679113T>GCA347226328DYSFc.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)
2g.71679114G>ACA347226329DYSFc.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
2g.71679114G>CCA347226330DYSFc.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)
2g.71679114G=CA1260156850DYSFc.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=)
2g.71679114G>TCA347226331DYSFc.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)
2g.71679115C>ACA347226332DYSFc.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
2g.71679115C>GCA347226333DYSFc.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)
2g.71679115C>TCA426704701DYSFc.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
2g.71679116T>ACA347226334DYSFc.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)
2g.71679116T>CCA347226335DYSFc.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
2g.71679116T>GCA347226336DYSFc.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)
2g.71679116T=CA1260156851DYSFc.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=)
2g.71679117C>ACA347226337DYSFc.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)
2g.71679117C=CA1260156852DYSFc.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=)
2g.71679117C>GCA1707555DYSFc.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
2g.71679117C>TCA49774345DYSFc.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
2g.71679117_71679132delCA2573106059DYSFc.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)
2g.71679118C>ACA426704702DYSFc.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=)
2g.71679118C=CA1260156853DYSFc.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=)
2g.71679118C>GCA49774349DYSFc.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
2g.71679118C>TCA426704703DYSFc.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
2g.71679119T>ACA347226338DYSFc.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)
2g.71679119T>CCA426704704DYSFc.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=)
2g.71679119T>GCA347226339DYSFc.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
2g.71679120T>ACA347226340DYSFc.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)
2g.71679120T>CCA347226341DYSFc.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)
2g.71679120T>GCA347226342DYSFc.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)
2g.71679121G>ACA426704705DYSFc.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
2g.71679121G>CCA347226343DYSFc.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)
2g.71679121G>TCA347226344DYSFc.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)
2g.71679122G>ACA347226345DYSFc.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)
2g.71679122G>CCA347226346DYSFc.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)
2g.71679122G>TCA347226347DYSFc.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)
2g.71679123A=CA1260156855DYSFc.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=)
2g.71679123A>CCA347226348DYSFc.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)
2g.71679123A>GCA347226349DYSFc.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
2g.71679123A>TCA347226350DYSFc.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)
2g.71679123_71679127delinsACCAGCA1260156854DYSFc.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=)
2g.71679124C>ACA1707556DYSFc.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
2g.71679124C=CA1260156856DYSFc.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=)
2g.71679124C>GCA347226351DYSFc.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
2g.71679124C>TCA426704706DYSFc.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
2g.71679125_71679128delCA222196DYSFc.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
2g.71679125C>ACA347226354DYSFc.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
2g.71679125C=CA1260156857DYSFc.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=)
2g.71679125C>GCA347226352DYSFc.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)
2g.71679125C>TCA347226353DYSFc.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
2g.71679126A=CA1260156858DYSFc.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=)
2g.71679126A>CCA347226355DYSFc.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)
2g.71679126A>GCA347226356DYSFc.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
2g.71679126A>TCA347226357DYSFc.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)
2g.71679127G>ACA426704707DYSFc.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=)
2g.71679127G>CCA347226358DYSFc.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)
2g.71679127G>TCA347226359DYSFc.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)
2g.71679128C>ACA347226360DYSFc.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)
2g.71679128C>GCA347226361DYSFc.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)
2g.71679128C>TCA426704708DYSFc.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=)
2g.71679129T>ACA347226362DYSFc.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)
2g.71679129T>CCA347226363DYSFc.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)
2g.71679129T>GCA347226364DYSFc.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)
2g.71679130G>ACA426704709DYSFc.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
2g.71679130G>CCA426704710DYSFc.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=)
2g.71679130G>TCA426704711DYSFc.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=)
2g.71679131G>ACA347226367DYSFc.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)
2g.71679131G>CCA347226366DYSFc.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)
2g.71679131G=CA1260156859DYSFc.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=)
2g.71679131G>TCA347226365DYSFc.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
2g.71679132A>CCA347226368DYSFc.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)
2g.71679132A>GCA347226369DYSFc.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)
2g.71679132A>TCA347226370DYSFc.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)
2g.71679133T>ACA347226371DYSFc.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
2g.71679133T>CCA426704712DYSFc.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=)
2g.71679133T>GCA347226372DYSFc.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)
2g.71679134G>ACA347226373DYSFc.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
2g.71679134G>CCA347226374DYSFc.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)
2g.71679134G=CA1260156860DYSFc.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=)
2g.71679134G>TCA347226375DYSFc.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)
2g.71679135A>CCA347226376DYSFc.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)
2g.71679135A>GCA347226377DYSFc.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)
2g.71679135A>TCA347226378DYSFc.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)
2g.71679136T>ACA347226379DYSFc.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
2g.71679136T>CCA426704713DYSFc.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
2g.71679136T>GCA347226380DYSFc.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)
2g.71679136_71679137delinsTGCA1260156861DYSFc.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=)
2g.71679137delCA1707557DYSFc.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
2g.71679137G>ACA347226381DYSFc.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)
2g.71679137G>CCA347226382DYSFc.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)
2g.71679137G>TCA347226383DYSFc.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)
2g.71679138C>ACA347226384DYSFc.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)
2g.71679138C>GCA347226385DYSFc.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
2g.71679138C>TCA347226386DYSFc.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)
2g.71679139T>ACA426704714DYSFc.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=)
2g.71679139T>CCA426704715DYSFc.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
2g.71679139T>GCA426704716DYSFc.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=)
2g.71679140T>ACA1707558DYSFc.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
2g.71679140T>CCA347226387DYSFc.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)
2g.71679140T>GCA347226388DYSFc.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)
2g.71679140T=CA1260156862DYSFc.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=)
2g.71679141T>ACA347226389DYSFc.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)
2g.71679141T>CCA347226390DYSFc.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
2g.71679141T>GCA347226391DYSFc.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)
2g.71679142C>ACA347226392DYSFc.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)
2g.71679142C>GCA347226393DYSFc.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)
2g.71679142C>TCA426704717DYSFc.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=)
2g.71679143C>ACA347226396DYSFc.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)
2g.71679143C=CA1260156863DYSFc.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=)
2g.71679143C>GCA347226394DYSFc.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)
2g.71679143C>TCA347226395DYSFc.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
2g.71679144A>CCA347226397DYSFc.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)
2g.71679144A>GCA347226398DYSFc.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)
2g.71679144A>TCA347226399DYSFc.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)
2g.71679145C>ACA347226400DYSFc.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)
2g.71679145C>GCA347226401DYSFc.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)
2g.71679145C>TCA426704718DYSFc.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=)
2g.71679146C>ACA347226402DYSFc.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)
2g.71679146C=CA1260156864DYSFc.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=)
2g.71679146C>GCA347226403DYSFc.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)
2g.71679146C>TCA1707559DYSFc.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
2g.71679147C>ACA347226404DYSFc.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)
2g.71679147C=CA1260156865DYSFc.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=)
2g.71679147C>GCA347226405DYSFc.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)
2g.71679147C>TCA347226406DYSFc.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
2g.71679148delCA2739292198DYSFc.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)
2g.71679148A=CA1260156866DYSFc.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=)
2g.71679148A>CCA147772DYSFc.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
2g.71679148A>GCA1707560DYSFc.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
2g.71679148A>TCA49774376DYSFc.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
2g.71679148_71679149delinsCTCA658657040DYSFc.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
2g.71679149G>ACA347226408DYSFc.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
2g.71679149G>CCA347226409DYSFc.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)
2g.71679149G=CA1260156867DYSFc.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=)
2g.71679149G>TCA347226407DYSFc.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
2g.71679150A>CCA347226410DYSFc.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)
2g.71679150A>GCA347226412DYSFc.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)
2g.71679150A>TCA347226411DYSFc.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)
2g.71679151A>CCA347226413DYSFc.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)
2g.71679151A>GCA426704719DYSFc.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
2g.71679151A>TCA347226414DYSFc.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)
2g.71679152T>ACA347226415DYSFc.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)
2g.71679152T>CCA347226417DYSFc.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)
2g.71679152T>GCA347226416DYSFc.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)
2g.71679153G>ACA49774397DYSFc.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
2g.71679153G>CCA347226419DYSFc.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)
2g.71679153G=CA1260156868DYSFc.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=)
2g.71679153G>TCA347226418DYSFc.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)
2g.71679154G>ACA347226420DYSFc.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
2g.71679154G>CCA347226422DYSFc.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)
2g.71679154G=CA1260156869DYSFc.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=)
2g.71679154G>TCA347226421DYSFc.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)
2g.71679155T>ACA347226423DYSFc.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)
2g.71679155T>CCA347226425DYSFc.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
2g.71679155T>GCA347226424DYSFc.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
2g.71679155T=CA1260156870DYSFc.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=)
2g.71679156T>ACA347226426DYSFc.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)
2g.71679156T>CCA347226427DYSFc.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
2g.71679156T>GCA347226428DYSFc.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)
2g.71679157T>ACA347226429DYSFc.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)
2g.71679157T>CCA426704720DYSFc.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=)
2g.71679157T>GCA347226430DYSFc.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)
2g.71679160_71679161delCA1139532925DYSFc.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
2g.71679158G>ACA347226431DYSFc.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
2g.71679158G>CCA347226432DYSFc.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
2g.71679158G=CA1260156871DYSFc.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=)
2g.71679158G>TCA347226433DYSFc.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)
2g.71679159T>ACA347226434DYSFc.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)
2g.71679159T>CCA347226435DYSFc.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)
2g.71679159T>GCA347226436DYSFc.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)
2g.71679160G>ACA426704721DYSFc.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=)
2g.71679160G>CCA426704722DYSFc.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=)
2g.71679160G>TCA426704723DYSFc.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=)
2g.71679161T>ACA347226437DYSFc.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)
2g.71679161T>CCA347226439DYSFc.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
2g.71679161T>GCA347226438DYSFc.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)
2g.71679161T=CA1260156872DYSFc.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=)
2g.71679162C>ACA347226440DYSFc.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)
2g.71679162C>GCA347226441DYSFc.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
2g.71679162C>TCA347226442DYSFc.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
2g.71679163C>ACA426704724DYSFc.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=)
2g.71679163C=CA1260156873DYSFc.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=)
2g.71679163C>GCA426704725DYSFc.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
2g.71679163C>TCA49774399DYSFc.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
2g.71679164C>ACA347226443DYSFc.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)
2g.71679164C=CA1260156874DYSFc.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=)
2g.71679164C>GCA1707561DYSFc.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
2g.71679164C>TCA347226444DYSFc.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
2g.71679165T>ACA1707562DYSFc.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
2g.71679165T>CCA347226445DYSFc.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
2g.71679165T>GCA347226446DYSFc.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)
2g.71679165T=CA1260156875DYSFc.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=)
2g.71679169delCA426704726DYSFc.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
2g.71679166T>ACA426704727DYSFc.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=)
2g.71679166T>CCA426704728DYSFc.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=)
2g.71679166T>GCA426704729DYSFc.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=)
2g.71679167T>ACA347226448DYSFc.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)
2g.71679167T>CCA347226449DYSFc.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)
2g.71679167T>GCA347226447DYSFc.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)
2g.71679168T>ACA347226450DYSFc.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)
2g.71679168T>CCA347226451DYSFc.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)
2g.71679168T>GCA347226452DYSFc.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)
2g.71679169T>ACA347226453DYSFc.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)
2g.71679169T>CCA426704730DYSFc.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
2g.71679169T>GCA347226454DYSFc.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)
2g.71679169T=CA1260156876DYSFc.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=)
2g.71679170G>ACA347226457DYSFc.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
2g.71679170G>CCA347226455DYSFc.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)
2g.71679170G=CA1260156877DYSFc.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=)
2g.71679170G>TCA347226456DYSFc.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)
2g.71679171A=CA1260156878DYSFc.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=)
2g.71679171A>CCA347226458DYSFc.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)
2g.71679171A>GCA1707563DYSFc.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
2g.71679171A>TCA347226459DYSFc.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)
2g.71679172G>ACA426704731DYSFc.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=)
2g.71679172G>CCA347226460DYSFc.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)
2g.71679172G>TCA347226461DYSFc.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)
2g.71679173C>ACA347226462DYSFc.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)
2g.71679173C=CA1260156879DYSFc.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=)
2g.71679173C>GCA347226463DYSFc.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)
2g.71679173C>TCA16617750DYSFc.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
2g.71679174A=CA1260156880DYSFc.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=)
2g.71679174A>CCA347226464DYSFc.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)
2g.71679174A>GCA347226465DYSFc.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)
2g.71679174A>TCA347226466DYSFc.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
2g.71679175G>ACA426704732DYSFc.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=)
2g.71679175G>CCA347226467DYSFc.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)
2g.71679175G>TCA347226468DYSFc.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)
2g.71679176A>CCA347226469DYSFc.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)
2g.71679176A>GCA347226470DYSFc.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
2g.71679176A>TCA347226471DYSFc.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)
2g.71679177A>CCA347226472DYSFc.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)
2g.71679177A>GCA347226473DYSFc.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)
2g.71679177A>TCA347226474DYSFc.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)
2g.71679178A>CCA347226475DYSFc.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)
2g.71679178A>GCA426704733DYSFc.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=)
2g.71679178A>TCA347226476DYSFc.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)
2g.71679179A>CCA347226477DYSFc.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)
2g.71679179A>GCA347226478DYSFc.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
2g.71679179A>TCA347226479DYSFc.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)
2g.71679180C>ACA347226480DYSFc.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)
2g.71679180C=CA1260156881DYSFc.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=)
2g.71679180C>GCA347226481DYSFc.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)
2g.71679180C>TCA1707564DYSFc.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
2g.71679181A>CCA426704734DYSFc.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=)
2g.71679181A>GCA426704735DYSFc.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=)
2g.71679181A>TCA426704736DYSFc.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=)
2g.71679182G>ACA347226484DYSFc.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)
2g.71679182G>CCA347226483DYSFc.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)
2g.71679182G>TCA347226482DYSFc.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)
2g.71679183T>ACA347226485DYSFc.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)
2g.71679183T>CCA347226486DYSFc.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
2g.71679183T>GCA347226487DYSFc.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)
2g.71679183T=CA1260156882DYSFc.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=)
2g.71679184G>ACA426704737DYSFc.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
2g.71679184G>CCA426704738DYSFc.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=)
2g.71679184G>TCA426704739DYSFc.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=)
2g.71679185A>CCA347226488DYSFc.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)
2g.71679185A>GCA347226489DYSFc.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)
2g.71679185A>TCA347226490DYSFc.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)
2g.71679186A>CCA347226491DYSFc.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)
2g.71679186A>GCA347226493DYSFc.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)
2g.71679186A>TCA347226492DYSFc.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)
2g.71679187G>ACA426704740DYSFc.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
2g.71679187G>CCA347226494DYSFc.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)
2g.71679187G>TCA347226495DYSFc.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)
2g.71679189delCA645530575DYSFc.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
2g.71679188G>ACA347226496DYSFc.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
2g.71679188G>CCA347226497DYSFc.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)
2g.71679188G>TCA347226498DYSFc.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)
2g.71679189G>ACA347226499DYSFc.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)
2g.71679189G>CCA347226500DYSFc.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)
2g.71679189G>TCA347226501DYSFc.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
2g.71679190C>ACA426704742DYSFc.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=)
2g.71679190C>GCA426704743DYSFc.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=)
2g.71679190C>TCA426704741DYSFc.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=)
2g.71679191T>ACA347226502DYSFc.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)
2g.71679191T>CCA10605224DYSFc.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
2g.71679191T>GCA347226503DYSFc.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)
2g.71679191T=CA1260156883DYSFc.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=)
2g.71679191_71679192insACACACA2695200823DYSFc.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
2g.71679192G>ACA347226504DYSFc.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
2g.71679192G>CCA347226506DYSFc.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)
2g.71679192G>TCA347226505DYSFc.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)
2g.71679193G>ACA347226507DYSFc.3435G>A (p.Trp1145Ter)
c.2652G>A (p.Trp884Ter)
c.2760G>A (p.Trp920Ter)
c.5904G>A (p.Trp1968Ter)
c.6021G>A (p.Trp2007Ter)
c.5907G>A (p.Trp1969Ter)
c.5970G>A (p.Trp1990Ter)
c.6018G>A (p.Trp2006Ter)
c.6000G>A (p.Trp2000Ter)
c.5928G>A (p.Trp1976Ter)
c.5955G>A (p.Trp1985Ter)
c.5958G>A (p.Trp1986Ter)
c.5997G>A (p.Trp1999Ter)
c.5967G>A (p.Trp1989Ter)
n.2789G>A
c.5862G>A (p.Trp1954Ter)
c.5925G>A (p.Trp1975Ter)
c.5865G>A (p.Trp1955Ter)
c.6063G>A (p.Trp2021Ter)
c.6060G>A (p.Trp2020Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71679193G>CCA347226508DYSFc.3435G>C (p.Trp1145Cys)
c.2652G>C (p.Trp884Cys)
c.2760G>C (p.Trp920Cys)
c.5904G>C (p.Trp1968Cys)
c.6021G>C (p.Trp2007Cys)
c.5907G>C (p.Trp1969Cys)
c.5970G>C (p.Trp1990Cys)
c.6018G>C (p.Trp2006Cys)
c.6000G>C (p.Trp2000Cys)
c.5928G>C (p.Trp1976Cys)
c.5955G>C (p.Trp1985Cys)
c.5958G>C (p.Trp1986Cys)
c.5997G>C (p.Trp1999Cys)
c.5967G>C (p.Trp1989Cys)
n.2789G>C
c.5862G>C (p.Trp1954Cys)
c.5925G>C (p.Trp1975Cys)
c.5865G>C (p.Trp1955Cys)
c.6063G>C (p.Trp2021Cys)
c.6060G>C (p.Trp2020Cys)
2g.71679193G=CA1260156884DYSFc.3435G= (p.Trp1145=)
c.2652G= (p.Trp884=)
c.2760G= (p.Trp920=)
c.5904G= (p.Trp1968=)
c.6021G= (p.Trp2007=)
c.5907G= (p.Trp1969=)
c.5970G= (p.Trp1990=)
c.6018G= (p.Trp2006=)
c.6000G= (p.Trp2000=)
c.5928G= (p.Trp1976=)
c.5955G= (p.Trp1985=)
c.5958G= (p.Trp1986=)
c.5997G= (p.Trp1999=)
c.5967G= (p.Trp1989=)
n.2789G=
c.5862G= (p.Trp1954=)
c.5925G= (p.Trp1975=)
c.5865G= (p.Trp1955=)
c.6063G= (p.Trp2021=)
c.6060G= (p.Trp2020=)
2g.71679193G>TCA347226509DYSFc.3435G>T (p.Trp1145Cys)
c.2652G>T (p.Trp884Cys)
c.2760G>T (p.Trp920Cys)
c.5904G>T (p.Trp1968Cys)
c.6021G>T (p.Trp2007Cys)
c.5907G>T (p.Trp1969Cys)
c.5970G>T (p.Trp1990Cys)
c.6018G>T (p.Trp2006Cys)
c.6000G>T (p.Trp2000Cys)
c.5928G>T (p.Trp1976Cys)
c.5955G>T (p.Trp1985Cys)
c.5958G>T (p.Trp1986Cys)
c.5997G>T (p.Trp1999Cys)
c.5967G>T (p.Trp1989Cys)
n.2789G>T
c.5862G>T (p.Trp1954Cys)
c.5925G>T (p.Trp1975Cys)
c.5865G>T (p.Trp1955Cys)
c.6063G>T (p.Trp2021Cys)
c.6060G>T (p.Trp2020Cys)
2g.71679194T>ACA347226510DYSFc.3436T>A (p.Trp1146Arg)
c.2653T>A (p.Trp885Arg)
c.2761T>A (p.Trp921Arg)
c.5905T>A (p.Trp1969Arg)
c.6022T>A (p.Trp2008Arg)
c.5908T>A (p.Trp1970Arg)
c.5971T>A (p.Trp1991Arg)
c.6019T>A (p.Trp2007Arg)
c.6001T>A (p.Trp2001Arg)
c.5929T>A (p.Trp1977Arg)
c.5956T>A (p.Trp1986Arg)
c.5959T>A (p.Trp1987Arg)
c.5998T>A (p.Trp2000Arg)
c.5968T>A (p.Trp1990Arg)
n.2790T>A
c.5863T>A (p.Trp1955Arg)
c.5926T>A (p.Trp1976Arg)
c.5866T>A (p.Trp1956Arg)
c.6064T>A (p.Trp2022Arg)
c.6061T>A (p.Trp2021Arg)
2g.71679194T>CCA347226511DYSFc.3436T>C (p.Trp1146Arg)
c.2653T>C (p.Trp885Arg)
c.2761T>C (p.Trp921Arg)
c.5905T>C (p.Trp1969Arg)
c.6022T>C (p.Trp2008Arg)
c.5908T>C (p.Trp1970Arg)
c.5971T>C (p.Trp1991Arg)
c.6019T>C (p.Trp2007Arg)
c.6001T>C (p.Trp2001Arg)
c.5929T>C (p.Trp1977Arg)
c.5956T>C (p.Trp1986Arg)
c.5959T>C (p.Trp1987Arg)
c.5998T>C (p.Trp2000Arg)
c.5968T>C (p.Trp1990Arg)
n.2790T>C
c.5863T>C (p.Trp1955Arg)
c.5926T>C (p.Trp1976Arg)
c.5866T>C (p.Trp1956Arg)
c.6064T>C (p.Trp2022Arg)
c.6061T>C (p.Trp2021Arg)
2g.71679194T>GCA347226512DYSFc.3436T>G (p.Trp1146Gly)
c.2653T>G (p.Trp885Gly)
c.2761T>G (p.Trp921Gly)
c.5905T>G (p.Trp1969Gly)
c.6022T>G (p.Trp2008Gly)
c.5908T>G (p.Trp1970Gly)
c.5971T>G (p.Trp1991Gly)
c.6019T>G (p.Trp2007Gly)
c.6001T>G (p.Trp2001Gly)
c.5929T>G (p.Trp1977Gly)
c.5956T>G (p.Trp1986Gly)
c.5959T>G (p.Trp1987Gly)
c.5998T>G (p.Trp2000Gly)
c.5968T>G (p.Trp1990Gly)
n.2790T>G
c.5863T>G (p.Trp1955Gly)
c.5926T>G (p.Trp1976Gly)
c.5866T>G (p.Trp1956Gly)
c.6064T>G (p.Trp2022Gly)
c.6061T>G (p.Trp2021Gly)
2g.71679194dupCA2573135976DYSFc.3436dup (p.Trp1146LeufsTer9)
c.2653dup (p.Trp885LeufsTer9)
c.2761dup (p.Trp921LeufsTer9)
c.5905dup (p.Trp1969LeufsTer9)
c.6022dup (p.Trp2008LeufsTer9)
c.5908dup (p.Trp1970LeufsTer9)
c.5971dup (p.Trp1991LeufsTer9)
c.6019dup (p.Trp2007LeufsTer9)
c.6001dup (p.Trp2001LeufsTer9)
c.5929dup (p.Trp1977LeufsTer9)
c.5956dup (p.Trp1986LeufsTer9)
c.5959dup (p.Trp1987LeufsTer9)
c.5998dup (p.Trp2000LeufsTer9)
c.5968dup (p.Trp1990LeufsTer9)
n.2790dup
c.5863dup (p.Trp1955LeufsTer9)
c.5926dup (p.Trp1976LeufsTer9)
c.5866dup (p.Trp1956LeufsTer9)
c.6064dup (p.Trp2022LeufsTer9)
c.6061dup (p.Trp2021LeufsTer9)
 ClinVar dbSNP
2g.71679195G>ACA347226513DYSFc.3437G>A (p.Trp1146Ter)
c.2654G>A (p.Trp885Ter)
c.2762G>A (p.Trp921Ter)
c.5906G>A (p.Trp1969Ter)
c.6023G>A (p.Trp2008Ter)
c.5909G>A (p.Trp1970Ter)
c.5972G>A (p.Trp1991Ter)
c.6020G>A (p.Trp2007Ter)
c.6002G>A (p.Trp2001Ter)
c.5930G>A (p.Trp1977Ter)
c.5957G>A (p.Trp1986Ter)
c.5960G>A (p.Trp1987Ter)
c.5999G>A (p.Trp2000Ter)
c.5969G>A (p.Trp1990Ter)
n.2791G>A
c.5864G>A (p.Trp1955Ter)
c.5927G>A (p.Trp1976Ter)
c.5867G>A (p.Trp1956Ter)
c.6065G>A (p.Trp2022Ter)
c.6062G>A (p.Trp2021Ter)
2g.71679195G>CCA347226514DYSFc.3437G>C (p.Trp1146Ser)
c.2654G>C (p.Trp885Ser)
c.2762G>C (p.Trp921Ser)
c.5906G>C (p.Trp1969Ser)
c.6023G>C (p.Trp2008Ser)
c.5909G>C (p.Trp1970Ser)
c.5972G>C (p.Trp1991Ser)
c.6020G>C (p.Trp2007Ser)
c.6002G>C (p.Trp2001Ser)
c.5930G>C (p.Trp1977Ser)
c.5957G>C (p.Trp1986Ser)
c.5960G>C (p.Trp1987Ser)
c.5999G>C (p.Trp2000Ser)
c.5969G>C (p.Trp1990Ser)
n.2791G>C
c.5864G>C (p.Trp1955Ser)
c.5927G>C (p.Trp1976Ser)
c.5867G>C (p.Trp1956Ser)
c.6065G>C (p.Trp2022Ser)
c.6062G>C (p.Trp2021Ser)
2g.71679195G>TCA347226515DYSFc.3437G>T (p.Trp1146Leu)
c.2654G>T (p.Trp885Leu)
c.2762G>T (p.Trp921Leu)
c.5906G>T (p.Trp1969Leu)
c.6023G>T (p.Trp2008Leu)
c.5909G>T (p.Trp1970Leu)
c.5972G>T (p.Trp1991Leu)
c.6020G>T (p.Trp2007Leu)
c.6002G>T (p.Trp2001Leu)
c.5930G>T (p.Trp1977Leu)
c.5957G>T (p.Trp1986Leu)
c.5960G>T (p.Trp1987Leu)
c.5999G>T (p.Trp2000Leu)
c.5969G>T (p.Trp1990Leu)
n.2791G>T
c.5864G>T (p.Trp1955Leu)
c.5927G>T (p.Trp1976Leu)
c.5867G>T (p.Trp1956Leu)
c.6065G>T (p.Trp2022Leu)
c.6062G>T (p.Trp2021Leu)
2g.71679196G>ACA347226516DYSFc.3438G>A (p.Trp1146Ter)
c.2655G>A (p.Trp885Ter)
c.2763G>A (p.Trp921Ter)
c.5907G>A (p.Trp1969Ter)
c.6024G>A (p.Trp2008Ter)
c.5910G>A (p.Trp1970Ter)
c.5973G>A (p.Trp1991Ter)
c.6021G>A (p.Trp2007Ter)
c.6003G>A (p.Trp2001Ter)
c.5931G>A (p.Trp1977Ter)
c.5958G>A (p.Trp1986Ter)
c.5961G>A (p.Trp1987Ter)
c.6000G>A (p.Trp2000Ter)
c.5970G>A (p.Trp1990Ter)
n.2792G>A
c.5865G>A (p.Trp1955Ter)
c.5928G>A (p.Trp1976Ter)
c.5868G>A (p.Trp1956Ter)
c.6066G>A (p.Trp2022Ter)
c.6063G>A (p.Trp2021Ter)
2g.71679196G>CCA347226517DYSFc.3438G>C (p.Trp1146Cys)
c.2655G>C (p.Trp885Cys)
c.2763G>C (p.Trp921Cys)
c.5907G>C (p.Trp1969Cys)
c.6024G>C (p.Trp2008Cys)
c.5910G>C (p.Trp1970Cys)
c.5973G>C (p.Trp1991Cys)
c.6021G>C (p.Trp2007Cys)
c.6003G>C (p.Trp2001Cys)
c.5931G>C (p.Trp1977Cys)
c.5958G>C (p.Trp1986Cys)
c.5961G>C (p.Trp1987Cys)
c.6000G>C (p.Trp2000Cys)
c.5970G>C (p.Trp1990Cys)
n.2792G>C
c.5865G>C (p.Trp1955Cys)
c.5928G>C (p.Trp1976Cys)
c.5868G>C (p.Trp1956Cys)
c.6066G>C (p.Trp2022Cys)
c.6063G>C (p.Trp2021Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.71679196G=CA1260156885DYSFc.3438G= (p.Trp1146=)
c.2655G= (p.Trp885=)
c.2763G= (p.Trp921=)
c.5907G= (p.Trp1969=)
c.6024G= (p.Trp2008=)
c.5910G= (p.Trp1970=)
c.5973G= (p.Trp1991=)
c.6021G= (p.Trp2007=)
c.6003G= (p.Trp2001=)
c.5931G= (p.Trp1977=)
c.5958G= (p.Trp1986=)
c.5961G= (p.Trp1987=)
c.6000G= (p.Trp2000=)
c.5970G= (p.Trp1990=)
n.2792G=
c.5865G= (p.Trp1955=)
c.5928G= (p.Trp1976=)
c.5868G= (p.Trp1956=)
c.6066G= (p.Trp2022=)
c.6063G= (p.Trp2021=)
2g.71679196G>TCA347226518DYSFc.3438G>T (p.Trp1146Cys)
c.2655G>T (p.Trp885Cys)
c.2763G>T (p.Trp921Cys)
c.5907G>T (p.Trp1969Cys)
c.6024G>T (p.Trp2008Cys)
c.5910G>T (p.Trp1970Cys)
c.5973G>T (p.Trp1991Cys)
c.6021G>T (p.Trp2007Cys)
c.6003G>T (p.Trp2001Cys)
c.5931G>T (p.Trp1977Cys)
c.5958G>T (p.Trp1986Cys)
c.5961G>T (p.Trp1987Cys)
c.6000G>T (p.Trp2000Cys)
c.5970G>T (p.Trp1990Cys)
n.2792G>T
c.5865G>T (p.Trp1955Cys)
c.5928G>T (p.Trp1976Cys)
c.5868G>T (p.Trp1956Cys)
c.6066G>T (p.Trp2022Cys)
c.6063G>T (p.Trp2021Cys)
2g.71679197C>ACA347226521DYSFc.3439C>A (p.Pro1147Thr)
c.2656C>A (p.Pro886Thr)
c.2764C>A (p.Pro922Thr)
c.5908C>A (p.Pro1970Thr)
c.6025C>A (p.Pro2009Thr)
c.5911C>A (p.Pro1971Thr)
c.5974C>A (p.Pro1992Thr)
c.6022C>A (p.Pro2008Thr)
c.6004C>A (p.Pro2002Thr)
c.5932C>A (p.Pro1978Thr)
c.5959C>A (p.Pro1987Thr)
c.5962C>A (p.Pro1988Thr)
c.6001C>A (p.Pro2001Thr)
c.5971C>A (p.Pro1991Thr)
n.2793C>A
c.5866C>A (p.Pro1956Thr)
c.5929C>A (p.Pro1977Thr)
c.5869C>A (p.Pro1957Thr)
c.6067C>A (p.Pro2023Thr)
c.6064C>A (p.Pro2022Thr)
2g.71679197C=CA1260156886DYSFc.3439C= (p.Pro1147=)
c.2656C= (p.Pro886=)
c.2764C= (p.Pro922=)
c.5908C= (p.Pro1970=)
c.6025C= (p.Pro2009=)
c.5911C= (p.Pro1971=)
c.5974C= (p.Pro1992=)
c.6022C= (p.Pro2008=)
c.6004C= (p.Pro2002=)
c.5932C= (p.Pro1978=)
c.5959C= (p.Pro1987=)
c.5962C= (p.Pro1988=)
c.6001C= (p.Pro2001=)
c.5971C= (p.Pro1991=)
n.2793C=
c.5866C= (p.Pro1956=)
c.5929C= (p.Pro1977=)
c.5869C= (p.Pro1957=)
c.6067C= (p.Pro2023=)
c.6064C= (p.Pro2022=)
2g.71679197C>GCA347226519DYSFc.3439C>G (p.Pro1147Ala)
c.2656C>G (p.Pro886Ala)
c.2764C>G (p.Pro922Ala)
c.5908C>G (p.Pro1970Ala)
c.6025C>G (p.Pro2009Ala)
c.5911C>G (p.Pro1971Ala)
c.5974C>G (p.Pro1992Ala)
c.6022C>G (p.Pro2008Ala)
c.6004C>G (p.Pro2002Ala)
c.5932C>G (p.Pro1978Ala)
c.5959C>G (p.Pro1987Ala)
c.5962C>G (p.Pro1988Ala)
c.6001C>G (p.Pro2001Ala)
c.5971C>G (p.Pro1991Ala)
n.2793C>G
c.5866C>G (p.Pro1956Ala)
c.5929C>G (p.Pro1977Ala)
c.5869C>G (p.Pro1957Ala)
c.6067C>G (p.Pro2023Ala)
c.6064C>G (p.Pro2022Ala)
2g.71679197C>TCA16604254DYSFc.3439C>T (p.Pro1147Ser)
c.2656C>T (p.Pro886Ser)
c.2764C>T (p.Pro922Ser)
c.5908C>T (p.Pro1970Ser)
c.6025C>T (p.Pro2009Ser)
c.5911C>T (p.Pro1971Ser)
c.5974C>T (p.Pro1992Ser)
c.6022C>T (p.Pro2008Ser)
c.6004C>T (p.Pro2002Ser)
c.5932C>T (p.Pro1978Ser)
c.5959C>T (p.Pro1987Ser)
c.5962C>T (p.Pro1988Ser)
c.6001C>T (p.Pro2001Ser)
c.5971C>T (p.Pro1991Ser)
n.2793C>T
c.5866C>T (p.Pro1956Ser)
c.5929C>T (p.Pro1977Ser)
c.5869C>T (p.Pro1957Ser)
c.6067C>T (p.Pro2023Ser)
c.6064C>T (p.Pro2022Ser)
 ClinVar dbSNP gnomAD v4
2g.71679198C>ACA347226523DYSFc.3440C>A (p.Pro1147His)
c.2657C>A (p.Pro886His)
c.2765C>A (p.Pro922His)
c.5909C>A (p.Pro1970His)
c.6026C>A (p.Pro2009His)
c.5912C>A (p.Pro1971His)
c.5975C>A (p.Pro1992His)
c.6023C>A (p.Pro2008His)
c.6005C>A (p.Pro2002His)
c.5933C>A (p.Pro1978His)
c.5960C>A (p.Pro1987His)
c.5963C>A (p.Pro1988His)
c.6002C>A (p.Pro2001His)
c.5972C>A (p.Pro1991His)
n.2794C>A
c.5867C>A (p.Pro1956His)
c.5930C>A (p.Pro1977His)
c.5870C>A (p.Pro1957His)
c.6068C>A (p.Pro2023His)
c.6065C>A (p.Pro2022His)
2g.71679198C>GCA347226525DYSFc.3440C>G (p.Pro1147Arg)
c.2657C>G (p.Pro886Arg)
c.2765C>G (p.Pro922Arg)
c.5909C>G (p.Pro1970Arg)
c.6026C>G (p.Pro2009Arg)
c.5912C>G (p.Pro1971Arg)
c.5975C>G (p.Pro1992Arg)
c.6023C>G (p.Pro2008Arg)
c.6005C>G (p.Pro2002Arg)
c.5933C>G (p.Pro1978Arg)
c.5960C>G (p.Pro1987Arg)
c.5963C>G (p.Pro1988Arg)
c.6002C>G (p.Pro2001Arg)
c.5972C>G (p.Pro1991Arg)
n.2794C>G
c.5867C>G (p.Pro1956Arg)
c.5930C>G (p.Pro1977Arg)
c.5870C>G (p.Pro1957Arg)
c.6068C>G (p.Pro2023Arg)
c.6065C>G (p.Pro2022Arg)
2g.71679198C>TCA347226526DYSFc.3440C>T (p.Pro1147Leu)
c.2657C>T (p.Pro886Leu)
c.2765C>T (p.Pro922Leu)
c.5909C>T (p.Pro1970Leu)
c.6026C>T (p.Pro2009Leu)
c.5912C>T (p.Pro1971Leu)
c.5975C>T (p.Pro1992Leu)
c.6023C>T (p.Pro2008Leu)
c.6005C>T (p.Pro2002Leu)
c.5933C>T (p.Pro1978Leu)
c.5960C>T (p.Pro1987Leu)
c.5963C>T (p.Pro1988Leu)
c.6002C>T (p.Pro2001Leu)
c.5972C>T (p.Pro1991Leu)
n.2794C>T
c.5867C>T (p.Pro1956Leu)
c.5930C>T (p.Pro1977Leu)
c.5870C>T (p.Pro1957Leu)
c.6068C>T (p.Pro2023Leu)
c.6065C>T (p.Pro2022Leu)
2g.71679199C>ACA426704744DYSFc.3441C>A (p.Pro1147=)
c.2658C>A (p.Pro886=)
c.2766C>A (p.Pro922=)
c.5910C>A (p.Pro1970=)
c.6027C>A (p.Pro2009=)
c.5913C>A (p.Pro1971=)
c.5976C>A (p.Pro1992=)
c.6024C>A (p.Pro2008=)
c.6006C>A (p.Pro2002=)
c.5934C>A (p.Pro1978=)
c.5961C>A (p.Pro1987=)
c.5964C>A (p.Pro1988=)
c.6003C>A (p.Pro2001=)
c.5973C>A (p.Pro1991=)
n.2795C>A
c.5868C>A (p.Pro1956=)
c.5931C>A (p.Pro1977=)
c.5871C>A (p.Pro1957=)
c.6069C>A (p.Pro2023=)
c.6066C>A (p.Pro2022=)
2g.71679199C>GCA426704745DYSFc.3441C>G (p.Pro1147=)
c.2658C>G (p.Pro886=)
c.2766C>G (p.Pro922=)
c.5910C>G (p.Pro1970=)
c.6027C>G (p.Pro2009=)
c.5913C>G (p.Pro1971=)
c.5976C>G (p.Pro1992=)
c.6024C>G (p.Pro2008=)
c.6006C>G (p.Pro2002=)
c.5934C>G (p.Pro1978=)
c.5961C>G (p.Pro1987=)
c.5964C>G (p.Pro1988=)
c.6003C>G (p.Pro2001=)
c.5973C>G (p.Pro1991=)
n.2795C>G
c.5868C>G (p.Pro1956=)
c.5931C>G (p.Pro1977=)
c.5871C>G (p.Pro1957=)
c.6069C>G (p.Pro2023=)
c.6066C>G (p.Pro2022=)
2g.71679199C>TCA426704746DYSFc.3441C>T (p.Pro1147=)
c.2658C>T (p.Pro886=)
c.2766C>T (p.Pro922=)
c.5910C>T (p.Pro1970=)
c.6027C>T (p.Pro2009=)
c.5913C>T (p.Pro1971=)
c.5976C>T (p.Pro1992=)
c.6024C>T (p.Pro2008=)
c.6006C>T (p.Pro2002=)
c.5934C>T (p.Pro1978=)
c.5961C>T (p.Pro1987=)
c.5964C>T (p.Pro1988=)
c.6003C>T (p.Pro2001=)
c.5973C>T (p.Pro1991=)
n.2795C>T
c.5868C>T (p.Pro1956=)
c.5931C>T (p.Pro1977=)
c.5871C>T (p.Pro1957=)
c.6069C>T (p.Pro2023=)
c.6066C>T (p.Pro2022=)
 ClinVar COSMIC COSMIC

Number of alleles fetched