| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71679197C>A | CA347226521 | DYSF | c.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) | |
| 2 | g.71679197C= | CA1260156886 | DYSF | c.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=) | |
| 2 | g.71679197C>G | CA347226519 | DYSF | c.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) | |
| 2 | g.71679197C>T | CA16604254 | DYSF | c.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 |
| 2 | g.71679198C>A | CA347226523 | DYSF | c.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) | |
| 2 | g.71679198C>G | CA347226525 | DYSF | c.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) | |
| 2 | g.71679198C>T | CA347226526 | DYSF | c.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) | |
| 2 | g.71679199C>A | CA426704744 | DYSF | c.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=) | |
| 2 | g.71679199C>G | CA426704745 | DYSF | c.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=) | |
| 2 | g.71679199C>T | CA426704746 | DYSF | c.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 |
| 2 | g.71679200T>A | CA347226527 | DYSF | c.3442T>A (p.Cys1148Ser) c.2659T>A (p.Cys887Ser) c.2767T>A (p.Cys923Ser) c.5911T>A (p.Cys1971Ser) c.6028T>A (p.Cys2010Ser) c.5914T>A (p.Cys1972Ser) c.5977T>A (p.Cys1993Ser) c.6025T>A (p.Cys2009Ser) c.6007T>A (p.Cys2003Ser) c.5935T>A (p.Cys1979Ser) c.5962T>A (p.Cys1988Ser) c.5965T>A (p.Cys1989Ser) c.6004T>A (p.Cys2002Ser) c.5974T>A (p.Cys1992Ser) n.2796T>A c.5869T>A (p.Cys1957Ser) c.5932T>A (p.Cys1978Ser) c.5872T>A (p.Cys1958Ser) c.6070T>A (p.Cys2024Ser) c.6067T>A (p.Cys2023Ser) | gnomAD v4 |
| 2 | g.71679200T>C | CA347226529 | DYSF | c.3442T>C (p.Cys1148Arg) c.2659T>C (p.Cys887Arg) c.2767T>C (p.Cys923Arg) c.5911T>C (p.Cys1971Arg) c.6028T>C (p.Cys2010Arg) c.5914T>C (p.Cys1972Arg) c.5977T>C (p.Cys1993Arg) c.6025T>C (p.Cys2009Arg) c.6007T>C (p.Cys2003Arg) c.5935T>C (p.Cys1979Arg) c.5962T>C (p.Cys1988Arg) c.5965T>C (p.Cys1989Arg) c.6004T>C (p.Cys2002Arg) c.5974T>C (p.Cys1992Arg) n.2796T>C c.5869T>C (p.Cys1957Arg) c.5932T>C (p.Cys1978Arg) c.5872T>C (p.Cys1958Arg) c.6070T>C (p.Cys2024Arg) c.6067T>C (p.Cys2023Arg) | ClinVar dbSNP |
| 2 | g.71679200T>G | CA347226531 | DYSF | c.3442T>G (p.Cys1148Gly) c.2659T>G (p.Cys887Gly) c.2767T>G (p.Cys923Gly) c.5911T>G (p.Cys1971Gly) c.6028T>G (p.Cys2010Gly) c.5914T>G (p.Cys1972Gly) c.5977T>G (p.Cys1993Gly) c.6025T>G (p.Cys2009Gly) c.6007T>G (p.Cys2003Gly) c.5935T>G (p.Cys1979Gly) c.5962T>G (p.Cys1988Gly) c.5965T>G (p.Cys1989Gly) c.6004T>G (p.Cys2002Gly) c.5974T>G (p.Cys1992Gly) n.2796T>G c.5869T>G (p.Cys1957Gly) c.5932T>G (p.Cys1978Gly) c.5872T>G (p.Cys1958Gly) c.6070T>G (p.Cys2024Gly) c.6067T>G (p.Cys2023Gly) | |
| 2 | g.71679200T= | CA1260156887 | DYSF | c.3442T= (p.Cys1148=) c.2659T= (p.Cys887=) c.2767T= (p.Cys923=) c.5911T= (p.Cys1971=) c.6028T= (p.Cys2010=) c.5914T= (p.Cys1972=) c.5977T= (p.Cys1993=) c.6025T= (p.Cys2009=) c.6007T= (p.Cys2003=) c.5935T= (p.Cys1979=) c.5962T= (p.Cys1988=) c.5965T= (p.Cys1989=) c.6004T= (p.Cys2002=) c.5974T= (p.Cys1992=) n.2796T= c.5869T= (p.Cys1957=) c.5932T= (p.Cys1978=) c.5872T= (p.Cys1958=) c.6070T= (p.Cys2024=) c.6067T= (p.Cys2023=) | |
| 2 | g.71679201G>A | CA347226532 | DYSF | c.3443G>A (p.Cys1148Tyr) c.2660G>A (p.Cys887Tyr) c.2768G>A (p.Cys923Tyr) c.5912G>A (p.Cys1971Tyr) c.6029G>A (p.Cys2010Tyr) c.5915G>A (p.Cys1972Tyr) c.5978G>A (p.Cys1993Tyr) c.6026G>A (p.Cys2009Tyr) c.6008G>A (p.Cys2003Tyr) c.5936G>A (p.Cys1979Tyr) c.5963G>A (p.Cys1988Tyr) c.5966G>A (p.Cys1989Tyr) c.6005G>A (p.Cys2002Tyr) c.5975G>A (p.Cys1992Tyr) n.2797G>A c.5870G>A (p.Cys1957Tyr) c.5933G>A (p.Cys1978Tyr) c.5873G>A (p.Cys1958Tyr) c.6071G>A (p.Cys2024Tyr) c.6068G>A (p.Cys2023Tyr) | |
| 2 | g.71679201G>C | CA347226534 | DYSF | c.3443G>C (p.Cys1148Ser) c.2660G>C (p.Cys887Ser) c.2768G>C (p.Cys923Ser) c.5912G>C (p.Cys1971Ser) c.6029G>C (p.Cys2010Ser) c.5915G>C (p.Cys1972Ser) c.5978G>C (p.Cys1993Ser) c.6026G>C (p.Cys2009Ser) c.6008G>C (p.Cys2003Ser) c.5936G>C (p.Cys1979Ser) c.5963G>C (p.Cys1988Ser) c.5966G>C (p.Cys1989Ser) c.6005G>C (p.Cys2002Ser) c.5975G>C (p.Cys1992Ser) n.2797G>C c.5870G>C (p.Cys1957Ser) c.5933G>C (p.Cys1978Ser) c.5873G>C (p.Cys1958Ser) c.6071G>C (p.Cys2024Ser) c.6068G>C (p.Cys2023Ser) | |
| 2 | g.71679201G>T | CA347226535 | DYSF | c.3443G>T (p.Cys1148Phe) c.2660G>T (p.Cys887Phe) c.2768G>T (p.Cys923Phe) c.5912G>T (p.Cys1971Phe) c.6029G>T (p.Cys2010Phe) c.5915G>T (p.Cys1972Phe) c.5978G>T (p.Cys1993Phe) c.6026G>T (p.Cys2009Phe) c.6008G>T (p.Cys2003Phe) c.5936G>T (p.Cys1979Phe) c.5963G>T (p.Cys1988Phe) c.5966G>T (p.Cys1989Phe) c.6005G>T (p.Cys2002Phe) c.5975G>T (p.Cys1992Phe) n.2797G>T c.5870G>T (p.Cys1957Phe) c.5933G>T (p.Cys1978Phe) c.5873G>T (p.Cys1958Phe) c.6071G>T (p.Cys2024Phe) c.6068G>T (p.Cys2023Phe) | gnomAD v4 COSMIC COSMIC |
| 2 | g.71679202T>A | CA347226537 | DYSF | c.3444T>A (p.Cys1148Ter) c.2661T>A (p.Cys887Ter) c.2769T>A (p.Cys923Ter) c.5913T>A (p.Cys1971Ter) c.6030T>A (p.Cys2010Ter) c.5916T>A (p.Cys1972Ter) c.5979T>A (p.Cys1993Ter) c.6027T>A (p.Cys2009Ter) c.6009T>A (p.Cys2003Ter) c.5937T>A (p.Cys1979Ter) c.5964T>A (p.Cys1988Ter) c.5967T>A (p.Cys1989Ter) c.6006T>A (p.Cys2002Ter) c.5976T>A (p.Cys1992Ter) n.2798T>A c.5871T>A (p.Cys1957Ter) c.5934T>A (p.Cys1978Ter) c.5874T>A (p.Cys1958Ter) c.6072T>A (p.Cys2024Ter) c.6069T>A (p.Cys2023Ter) | |
| 2 | g.71679202T>C | CA426704747 | DYSF | c.3444T>C (p.Cys1148=) c.2661T>C (p.Cys887=) c.2769T>C (p.Cys923=) c.5913T>C (p.Cys1971=) c.6030T>C (p.Cys2010=) c.5916T>C (p.Cys1972=) c.5979T>C (p.Cys1993=) c.6027T>C (p.Cys2009=) c.6009T>C (p.Cys2003=) c.5937T>C (p.Cys1979=) c.5964T>C (p.Cys1988=) c.5967T>C (p.Cys1989=) c.6006T>C (p.Cys2002=) c.5976T>C (p.Cys1992=) n.2798T>C c.5871T>C (p.Cys1957=) c.5934T>C (p.Cys1978=) c.5874T>C (p.Cys1958=) c.6072T>C (p.Cys2024=) c.6069T>C (p.Cys2023=) | |
| 2 | g.71679202T>G | CA347226538 | DYSF | c.3444T>G (p.Cys1148Trp) c.2661T>G (p.Cys887Trp) c.2769T>G (p.Cys923Trp) c.5913T>G (p.Cys1971Trp) c.6030T>G (p.Cys2010Trp) c.5916T>G (p.Cys1972Trp) c.5979T>G (p.Cys1993Trp) c.6027T>G (p.Cys2009Trp) c.6009T>G (p.Cys2003Trp) c.5937T>G (p.Cys1979Trp) c.5964T>G (p.Cys1988Trp) c.5967T>G (p.Cys1989Trp) c.6006T>G (p.Cys2002Trp) c.5976T>G (p.Cys1992Trp) n.2798T>G c.5871T>G (p.Cys1957Trp) c.5934T>G (p.Cys1978Trp) c.5874T>G (p.Cys1958Trp) c.6072T>G (p.Cys2024Trp) c.6069T>G (p.Cys2023Trp) | |
| 2 | g.71679203G>A | CA347226540 | DYSF | c.3445G>A (p.Val1149Ile) c.2662G>A (p.Val888Ile) c.2770G>A (p.Val924Ile) c.5914G>A (p.Val1972Ile) c.6031G>A (p.Val2011Ile) c.5917G>A (p.Val1973Ile) c.5980G>A (p.Val1994Ile) c.6028G>A (p.Val2010Ile) c.6010G>A (p.Val2004Ile) c.5938G>A (p.Val1980Ile) c.5965G>A (p.Val1989Ile) c.5968G>A (p.Val1990Ile) c.6007G>A (p.Val2003Ile) c.5977G>A (p.Val1993Ile) n.2799G>A c.5872G>A (p.Val1958Ile) c.5935G>A (p.Val1979Ile) c.5875G>A (p.Val1959Ile) c.6073G>A (p.Val2025Ile) c.6070G>A (p.Val2024Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.71679203G>C | CA347226541 | DYSF | c.3445G>C (p.Val1149Leu) c.2662G>C (p.Val888Leu) c.2770G>C (p.Val924Leu) c.5914G>C (p.Val1972Leu) c.6031G>C (p.Val2011Leu) c.5917G>C (p.Val1973Leu) c.5980G>C (p.Val1994Leu) c.6028G>C (p.Val2010Leu) c.6010G>C (p.Val2004Leu) c.5938G>C (p.Val1980Leu) c.5965G>C (p.Val1989Leu) c.5968G>C (p.Val1990Leu) c.6007G>C (p.Val2003Leu) c.5977G>C (p.Val1993Leu) n.2799G>C c.5872G>C (p.Val1958Leu) c.5935G>C (p.Val1979Leu) c.5875G>C (p.Val1959Leu) c.6073G>C (p.Val2025Leu) c.6070G>C (p.Val2024Leu) | |
| 2 | g.71679203G= | CA1260156888 | DYSF | c.3445G= (p.Val1149=) c.2662G= (p.Val888=) c.2770G= (p.Val924=) c.5914G= (p.Val1972=) c.6031G= (p.Val2011=) c.5917G= (p.Val1973=) c.5980G= (p.Val1994=) c.6028G= (p.Val2010=) c.6010G= (p.Val2004=) c.5938G= (p.Val1980=) c.5965G= (p.Val1989=) c.5968G= (p.Val1990=) c.6007G= (p.Val2003=) c.5977G= (p.Val1993=) n.2799G= c.5872G= (p.Val1958=) c.5935G= (p.Val1979=) c.5875G= (p.Val1959=) c.6073G= (p.Val2025=) c.6070G= (p.Val2024=) | |
| 2 | g.71679203G>T | CA347226539 | DYSF | c.3445G>T (p.Val1149Leu) c.2662G>T (p.Val888Leu) c.2770G>T (p.Val924Leu) c.5914G>T (p.Val1972Leu) c.6031G>T (p.Val2011Leu) c.5917G>T (p.Val1973Leu) c.5980G>T (p.Val1994Leu) c.6028G>T (p.Val2010Leu) c.6010G>T (p.Val2004Leu) c.5938G>T (p.Val1980Leu) c.5965G>T (p.Val1989Leu) c.5968G>T (p.Val1990Leu) c.6007G>T (p.Val2003Leu) c.5977G>T (p.Val1993Leu) n.2799G>T c.5872G>T (p.Val1958Leu) c.5935G>T (p.Val1979Leu) c.5875G>T (p.Val1959Leu) c.6073G>T (p.Val2025Leu) c.6070G>T (p.Val2024Leu) | |
| 2 | g.71679204T>A | CA347226545 | DYSF | c.3446T>A (p.Val1149Glu) c.2663T>A (p.Val888Glu) c.2771T>A (p.Val924Glu) c.5915T>A (p.Val1972Glu) c.6032T>A (p.Val2011Glu) c.5918T>A (p.Val1973Glu) c.5981T>A (p.Val1994Glu) c.6029T>A (p.Val2010Glu) c.6011T>A (p.Val2004Glu) c.5939T>A (p.Val1980Glu) c.5966T>A (p.Val1989Glu) c.5969T>A (p.Val1990Glu) c.6008T>A (p.Val2003Glu) c.5978T>A (p.Val1993Glu) n.2800T>A c.5873T>A (p.Val1958Glu) c.5936T>A (p.Val1979Glu) c.5876T>A (p.Val1959Glu) c.6074T>A (p.Val2025Glu) c.6071T>A (p.Val2024Glu) | |
| 2 | g.71679204T>C | CA347226542 | DYSF | c.3446T>C (p.Val1149Ala) c.2663T>C (p.Val888Ala) c.2771T>C (p.Val924Ala) c.5915T>C (p.Val1972Ala) c.6032T>C (p.Val2011Ala) c.5918T>C (p.Val1973Ala) c.5981T>C (p.Val1994Ala) c.6029T>C (p.Val2010Ala) c.6011T>C (p.Val2004Ala) c.5939T>C (p.Val1980Ala) c.5966T>C (p.Val1989Ala) c.5969T>C (p.Val1990Ala) c.6008T>C (p.Val2003Ala) c.5978T>C (p.Val1993Ala) n.2800T>C c.5873T>C (p.Val1958Ala) c.5936T>C (p.Val1979Ala) c.5876T>C (p.Val1959Ala) c.6074T>C (p.Val2025Ala) c.6071T>C (p.Val2024Ala) | |
| 2 | g.71679204T>G | CA347226543 | DYSF | c.3446T>G (p.Val1149Gly) c.2663T>G (p.Val888Gly) c.2771T>G (p.Val924Gly) c.5915T>G (p.Val1972Gly) c.6032T>G (p.Val2011Gly) c.5918T>G (p.Val1973Gly) c.5981T>G (p.Val1994Gly) c.6029T>G (p.Val2010Gly) c.6011T>G (p.Val2004Gly) c.5939T>G (p.Val1980Gly) c.5966T>G (p.Val1989Gly) c.5969T>G (p.Val1990Gly) c.6008T>G (p.Val2003Gly) c.5978T>G (p.Val1993Gly) n.2800T>G c.5873T>G (p.Val1958Gly) c.5936T>G (p.Val1979Gly) c.5876T>G (p.Val1959Gly) c.6074T>G (p.Val2025Gly) c.6071T>G (p.Val2024Gly) | |
| 2 | g.71679205A>C | CA426704748 | DYSF | c.3447A>C (p.Val1149=) c.2664A>C (p.Val888=) c.2772A>C (p.Val924=) c.5916A>C (p.Val1972=) c.6033A>C (p.Val2011=) c.5919A>C (p.Val1973=) c.5982A>C (p.Val1994=) c.6030A>C (p.Val2010=) c.6012A>C (p.Val2004=) c.5940A>C (p.Val1980=) c.5967A>C (p.Val1989=) c.5970A>C (p.Val1990=) c.6009A>C (p.Val2003=) c.5979A>C (p.Val1993=) n.2801A>C c.5874A>C (p.Val1958=) c.5937A>C (p.Val1979=) c.5877A>C (p.Val1959=) c.6075A>C (p.Val2025=) c.6072A>C (p.Val2024=) | |
| 2 | g.71679205A>G | CA426704749 | DYSF | c.3447A>G (p.Val1149=) c.2664A>G (p.Val888=) c.2772A>G (p.Val924=) c.5916A>G (p.Val1972=) c.6033A>G (p.Val2011=) c.5919A>G (p.Val1973=) c.5982A>G (p.Val1994=) c.6030A>G (p.Val2010=) c.6012A>G (p.Val2004=) c.5940A>G (p.Val1980=) c.5967A>G (p.Val1989=) c.5970A>G (p.Val1990=) c.6009A>G (p.Val2003=) c.5979A>G (p.Val1993=) n.2801A>G c.5874A>G (p.Val1958=) c.5937A>G (p.Val1979=) c.5877A>G (p.Val1959=) c.6075A>G (p.Val2025=) c.6072A>G (p.Val2024=) | ClinVar dbSNP |
| 2 | g.71679205A>T | CA426704750 | DYSF | c.3447A>T (p.Val1149=) c.2664A>T (p.Val888=) c.2772A>T (p.Val924=) c.5916A>T (p.Val1972=) c.6033A>T (p.Val2011=) c.5919A>T (p.Val1973=) c.5982A>T (p.Val1994=) c.6030A>T (p.Val2010=) c.6012A>T (p.Val2004=) c.5940A>T (p.Val1980=) c.5967A>T (p.Val1989=) c.5970A>T (p.Val1990=) c.6009A>T (p.Val2003=) c.5979A>T (p.Val1993=) n.2801A>T c.5874A>T (p.Val1958=) c.5937A>T (p.Val1979=) c.5877A>T (p.Val1959=) c.6075A>T (p.Val2025=) c.6072A>T (p.Val2024=) | |
| 2 | g.71679206G>A | CA347226546 | DYSF | c.3448G>A (p.Ala1150Thr) c.2665G>A (p.Ala889Thr) c.2773G>A (p.Ala925Thr) c.5917G>A (p.Ala1973Thr) c.6034G>A (p.Ala2012Thr) c.5920G>A (p.Ala1974Thr) c.5983G>A (p.Ala1995Thr) c.6031G>A (p.Ala2011Thr) c.6013G>A (p.Ala2005Thr) c.5941G>A (p.Ala1981Thr) c.5968G>A (p.Ala1990Thr) c.5971G>A (p.Ala1991Thr) c.6010G>A (p.Ala2004Thr) c.5980G>A (p.Ala1994Thr) n.2802G>A c.5875G>A (p.Ala1959Thr) c.5938G>A (p.Ala1980Thr) c.5878G>A (p.Ala1960Thr) c.6076G>A (p.Ala2026Thr) c.6073G>A (p.Ala2025Thr) | |
| 2 | g.71679206G>C | CA347226547 | DYSF | c.3448G>C (p.Ala1150Pro) c.2665G>C (p.Ala889Pro) c.2773G>C (p.Ala925Pro) c.5917G>C (p.Ala1973Pro) c.6034G>C (p.Ala2012Pro) c.5920G>C (p.Ala1974Pro) c.5983G>C (p.Ala1995Pro) c.6031G>C (p.Ala2011Pro) c.6013G>C (p.Ala2005Pro) c.5941G>C (p.Ala1981Pro) c.5968G>C (p.Ala1990Pro) c.5971G>C (p.Ala1991Pro) c.6010G>C (p.Ala2004Pro) c.5980G>C (p.Ala1994Pro) n.2802G>C c.5875G>C (p.Ala1959Pro) c.5938G>C (p.Ala1980Pro) c.5878G>C (p.Ala1960Pro) c.6076G>C (p.Ala2026Pro) c.6073G>C (p.Ala2025Pro) | |
| 2 | g.71679206G>T | CA347226548 | DYSF | c.3448G>T (p.Ala1150Ser) c.2665G>T (p.Ala889Ser) c.2773G>T (p.Ala925Ser) c.5917G>T (p.Ala1973Ser) c.6034G>T (p.Ala2012Ser) c.5920G>T (p.Ala1974Ser) c.5983G>T (p.Ala1995Ser) c.6031G>T (p.Ala2011Ser) c.6013G>T (p.Ala2005Ser) c.5941G>T (p.Ala1981Ser) c.5968G>T (p.Ala1990Ser) c.5971G>T (p.Ala1991Ser) c.6010G>T (p.Ala2004Ser) c.5980G>T (p.Ala1994Ser) n.2802G>T c.5875G>T (p.Ala1959Ser) c.5938G>T (p.Ala1980Ser) c.5878G>T (p.Ala1960Ser) c.6076G>T (p.Ala2026Ser) c.6073G>T (p.Ala2025Ser) | |
| 2 | g.71679207C>A | CA347226550 | DYSF | c.3449C>A (p.Ala1150Glu) c.2666C>A (p.Ala889Glu) c.2774C>A (p.Ala925Glu) c.5918C>A (p.Ala1973Glu) c.6035C>A (p.Ala2012Glu) c.5921C>A (p.Ala1974Glu) c.5984C>A (p.Ala1995Glu) c.6032C>A (p.Ala2011Glu) c.6014C>A (p.Ala2005Glu) c.5942C>A (p.Ala1981Glu) c.5969C>A (p.Ala1990Glu) c.5972C>A (p.Ala1991Glu) c.6011C>A (p.Ala2004Glu) c.5981C>A (p.Ala1994Glu) n.2803C>A c.5876C>A (p.Ala1959Glu) c.5939C>A (p.Ala1980Glu) c.5879C>A (p.Ala1960Glu) c.6077C>A (p.Ala2026Glu) c.6074C>A (p.Ala2025Glu) | |
| 2 | g.71679207C= | CA1260156889 | DYSF | c.3449C= (p.Ala1150=) c.2666C= (p.Ala889=) c.2774C= (p.Ala925=) c.5918C= (p.Ala1973=) c.6035C= (p.Ala2012=) c.5921C= (p.Ala1974=) c.5984C= (p.Ala1995=) c.6032C= (p.Ala2011=) c.6014C= (p.Ala2005=) c.5942C= (p.Ala1981=) c.5969C= (p.Ala1990=) c.5972C= (p.Ala1991=) c.6011C= (p.Ala2004=) c.5981C= (p.Ala1994=) n.2803C= c.5876C= (p.Ala1959=) c.5939C= (p.Ala1980=) c.5879C= (p.Ala1960=) c.6077C= (p.Ala2026=) c.6074C= (p.Ala2025=) | |
| 2 | g.71679207C>G | CA347226552 | DYSF | c.3449C>G (p.Ala1150Gly) c.2666C>G (p.Ala889Gly) c.2774C>G (p.Ala925Gly) c.5918C>G (p.Ala1973Gly) c.6035C>G (p.Ala2012Gly) c.5921C>G (p.Ala1974Gly) c.5984C>G (p.Ala1995Gly) c.6032C>G (p.Ala2011Gly) c.6014C>G (p.Ala2005Gly) c.5942C>G (p.Ala1981Gly) c.5969C>G (p.Ala1990Gly) c.5972C>G (p.Ala1991Gly) c.6011C>G (p.Ala2004Gly) c.5981C>G (p.Ala1994Gly) n.2803C>G c.5876C>G (p.Ala1959Gly) c.5939C>G (p.Ala1980Gly) c.5879C>G (p.Ala1960Gly) c.6077C>G (p.Ala2026Gly) c.6074C>G (p.Ala2025Gly) | |
| 2 | g.71679207C>T | CA1707565 | DYSF | c.3449C>T (p.Ala1150Val) c.2666C>T (p.Ala889Val) c.2774C>T (p.Ala925Val) c.5918C>T (p.Ala1973Val) c.6035C>T (p.Ala2012Val) c.5921C>T (p.Ala1974Val) c.5984C>T (p.Ala1995Val) c.6032C>T (p.Ala2011Val) c.6014C>T (p.Ala2005Val) c.5942C>T (p.Ala1981Val) c.5969C>T (p.Ala1990Val) c.5972C>T (p.Ala1991Val) c.6011C>T (p.Ala2004Val) c.5981C>T (p.Ala1994Val) n.2803C>T c.5876C>T (p.Ala1959Val) c.5939C>T (p.Ala1980Val) c.5879C>T (p.Ala1960Val) c.6077C>T (p.Ala2026Val) c.6074C>T (p.Ala2025Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71679208A= | CA1260156890 | DYSF | c.3450A= (p.Ala1150=) c.2667A= (p.Ala889=) c.2775A= (p.Ala925=) c.5919A= (p.Ala1973=) c.6036A= (p.Ala2012=) c.5922A= (p.Ala1974=) c.5985A= (p.Ala1995=) c.6033A= (p.Ala2011=) c.6015A= (p.Ala2005=) c.5943A= (p.Ala1981=) c.5970A= (p.Ala1990=) c.5973A= (p.Ala1991=) c.6012A= (p.Ala2004=) c.5982A= (p.Ala1994=) n.2804A= c.5877A= (p.Ala1959=) c.5940A= (p.Ala1980=) c.5880A= (p.Ala1960=) c.6078A= (p.Ala2026=) c.6075A= (p.Ala2025=) | |
| 2 | g.71679208A>C | CA426704751 | DYSF | c.3450A>C (p.Ala1150=) c.2667A>C (p.Ala889=) c.2775A>C (p.Ala925=) c.5919A>C (p.Ala1973=) c.6036A>C (p.Ala2012=) c.5922A>C (p.Ala1974=) c.5985A>C (p.Ala1995=) c.6033A>C (p.Ala2011=) c.6015A>C (p.Ala2005=) c.5943A>C (p.Ala1981=) c.5970A>C (p.Ala1990=) c.5973A>C (p.Ala1991=) c.6012A>C (p.Ala2004=) c.5982A>C (p.Ala1994=) n.2804A>C c.5877A>C (p.Ala1959=) c.5940A>C (p.Ala1980=) c.5880A>C (p.Ala1960=) c.6078A>C (p.Ala2026=) c.6075A>C (p.Ala2025=) | gnomAD v4 |
| 2 | g.71679208A>G | CA426704752 | DYSF | c.3450A>G (p.Ala1150=) c.2667A>G (p.Ala889=) c.2775A>G (p.Ala925=) c.5919A>G (p.Ala1973=) c.6036A>G (p.Ala2012=) c.5922A>G (p.Ala1974=) c.5985A>G (p.Ala1995=) c.6033A>G (p.Ala2011=) c.6015A>G (p.Ala2005=) c.5943A>G (p.Ala1981=) c.5970A>G (p.Ala1990=) c.5973A>G (p.Ala1991=) c.6012A>G (p.Ala2004=) c.5982A>G (p.Ala1994=) n.2804A>G c.5877A>G (p.Ala1959=) c.5940A>G (p.Ala1980=) c.5880A>G (p.Ala1960=) c.6078A>G (p.Ala2026=) c.6075A>G (p.Ala2025=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.71679208A>T | CA426704753 | DYSF | c.3450A>T (p.Ala1150=) c.2667A>T (p.Ala889=) c.2775A>T (p.Ala925=) c.5919A>T (p.Ala1973=) c.6036A>T (p.Ala2012=) c.5922A>T (p.Ala1974=) c.5985A>T (p.Ala1995=) c.6033A>T (p.Ala2011=) c.6015A>T (p.Ala2005=) c.5943A>T (p.Ala1981=) c.5970A>T (p.Ala1990=) c.5973A>T (p.Ala1991=) c.6012A>T (p.Ala2004=) c.5982A>T (p.Ala1994=) n.2804A>T c.5877A>T (p.Ala1959=) c.5940A>T (p.Ala1980=) c.5880A>T (p.Ala1960=) c.6078A>T (p.Ala2026=) c.6075A>T (p.Ala2025=) | |
| 2 | g.71679209_71679210insCCCTGTGTGGCACTGTGTAGGAG | CA1139532926 | DYSF | c.3451_3452insCCCTGTGTGGCACTGTGTAGGAG (p.Glu1151AlafsTer7) c.2668_2669insCCCTGTGTGGCACTGTGTAGGAG (p.Glu890AlafsTer7) c.2776_2777insCCCTGTGTGGCACTGTGTAGGAG (p.Glu926AlafsTer7) c.5920_5921insCCCTGTGTGGCACTGTGTAGGAG (p.Glu1974AlafsTer7) c.6037_6038insCCCTGTGTGGCACTGTGTAGGAG (p.Glu2013AlafsTer7) c.5923_5924insCCCTGTGTGGCACTGTGTAGGAG (p.Glu1975AlafsTer7) c.5986_5987insCCCTGTGTGGCACTGTGTAGGAG (p.Glu1996AlafsTer7) c.6034_6035insCCCTGTGTGGCACTGTGTAGGAG (p.Glu2012AlafsTer7) c.6016_6017insCCCTGTGTGGCACTGTGTAGGAG (p.Glu2006AlafsTer7) c.5944_5945insCCCTGTGTGGCACTGTGTAGGAG (p.Glu1982AlafsTer7) c.5971_5972insCCCTGTGTGGCACTGTGTAGGAG (p.Glu1991AlafsTer7) c.5974_5975insCCCTGTGTGGCACTGTGTAGGAG (p.Glu1992AlafsTer7) c.6013_6014insCCCTGTGTGGCACTGTGTAGGAG (p.Glu2005AlafsTer7) c.5983_5984insCCCTGTGTGGCACTGTGTAGGAG (p.Glu1995AlafsTer7) n.2805_2806insCCCTGTGTGGCACTGTGTAGGAG c.5878_5879insCCCTGTGTGGCACTGTGTAGGAG (p.Glu1960AlafsTer7) c.5941_5942insCCCTGTGTGGCACTGTGTAGGAG (p.Glu1981AlafsTer7) c.5881_5882insCCCTGTGTGGCACTGTGTAGGAG (p.Glu1961AlafsTer7) c.6079_6080insCCCTGTGTGGCACTGTGTAGGAG (p.Glu2027AlafsTer7) c.6076_6077insCCCTGTGTGGCACTGTGTAGGAG (p.Glu2026AlafsTer7) | |
| 2 | g.71679209G>A | CA347226554 | DYSF | c.3451G>A (p.Glu1151Lys) c.2668G>A (p.Glu890Lys) c.2776G>A (p.Glu926Lys) c.5920G>A (p.Glu1974Lys) c.6037G>A (p.Glu2013Lys) c.5923G>A (p.Glu1975Lys) c.5986G>A (p.Glu1996Lys) c.6034G>A (p.Glu2012Lys) c.6016G>A (p.Glu2006Lys) c.5944G>A (p.Glu1982Lys) c.5971G>A (p.Glu1991Lys) c.5974G>A (p.Glu1992Lys) c.6013G>A (p.Glu2005Lys) c.5983G>A (p.Glu1995Lys) n.2805G>A c.5878G>A (p.Glu1960Lys) c.5941G>A (p.Glu1981Lys) c.5881G>A (p.Glu1961Lys) c.6079G>A (p.Glu2027Lys) c.6076G>A (p.Glu2026Lys) | gnomAD v4 |
| 2 | g.71679209G>C | CA347226556 | DYSF | c.3451G>C (p.Glu1151Gln) c.2668G>C (p.Glu890Gln) c.2776G>C (p.Glu926Gln) c.5920G>C (p.Glu1974Gln) c.6037G>C (p.Glu2013Gln) c.5923G>C (p.Glu1975Gln) c.5986G>C (p.Glu1996Gln) c.6034G>C (p.Glu2012Gln) c.6016G>C (p.Glu2006Gln) c.5944G>C (p.Glu1982Gln) c.5971G>C (p.Glu1991Gln) c.5974G>C (p.Glu1992Gln) c.6013G>C (p.Glu2005Gln) c.5983G>C (p.Glu1995Gln) n.2805G>C c.5878G>C (p.Glu1960Gln) c.5941G>C (p.Glu1981Gln) c.5881G>C (p.Glu1961Gln) c.6079G>C (p.Glu2027Gln) c.6076G>C (p.Glu2026Gln) | |
| 2 | g.71679209G>T | CA347226557 | DYSF | c.3451G>T (p.Glu1151Ter) c.2668G>T (p.Glu890Ter) c.2776G>T (p.Glu926Ter) c.5920G>T (p.Glu1974Ter) c.6037G>T (p.Glu2013Ter) c.5923G>T (p.Glu1975Ter) c.5986G>T (p.Glu1996Ter) c.6034G>T (p.Glu2012Ter) c.6016G>T (p.Glu2006Ter) c.5944G>T (p.Glu1982Ter) c.5971G>T (p.Glu1991Ter) c.5974G>T (p.Glu1992Ter) c.6013G>T (p.Glu2005Ter) c.5983G>T (p.Glu1995Ter) n.2805G>T c.5878G>T (p.Glu1960Ter) c.5941G>T (p.Glu1981Ter) c.5881G>T (p.Glu1961Ter) c.6079G>T (p.Glu2027Ter) c.6076G>T (p.Glu2026Ter) | |
| 2 | g.71679210A= | CA1260156891 | DYSF | c.3452A= (p.Glu1151=) c.2669A= (p.Glu890=) c.2777A= (p.Glu926=) c.5921A= (p.Glu1974=) c.6038A= (p.Glu2013=) c.5924A= (p.Glu1975=) c.5987A= (p.Glu1996=) c.6035A= (p.Glu2012=) c.6017A= (p.Glu2006=) c.5945A= (p.Glu1982=) c.5972A= (p.Glu1991=) c.5975A= (p.Glu1992=) c.6014A= (p.Glu2005=) c.5984A= (p.Glu1995=) n.2806A= c.5879A= (p.Glu1960=) c.5942A= (p.Glu1981=) c.5882A= (p.Glu1961=) c.6080A= (p.Glu2027=) c.6077A= (p.Glu2026=) | |
| 2 | g.71679210A>C | CA347226558 | DYSF | c.3452A>C (p.Glu1151Ala) c.2669A>C (p.Glu890Ala) c.2777A>C (p.Glu926Ala) c.5921A>C (p.Glu1974Ala) c.6038A>C (p.Glu2013Ala) c.5924A>C (p.Glu1975Ala) c.5987A>C (p.Glu1996Ala) c.6035A>C (p.Glu2012Ala) c.6017A>C (p.Glu2006Ala) c.5945A>C (p.Glu1982Ala) c.5972A>C (p.Glu1991Ala) c.5975A>C (p.Glu1992Ala) c.6014A>C (p.Glu2005Ala) c.5984A>C (p.Glu1995Ala) n.2806A>C c.5879A>C (p.Glu1960Ala) c.5942A>C (p.Glu1981Ala) c.5882A>C (p.Glu1961Ala) c.6080A>C (p.Glu2027Ala) c.6077A>C (p.Glu2026Ala) | |
| 2 | g.71679210A>G | CA1707566 | DYSF | c.3452A>G (p.Glu1151Gly) c.2669A>G (p.Glu890Gly) c.2777A>G (p.Glu926Gly) c.5921A>G (p.Glu1974Gly) c.6038A>G (p.Glu2013Gly) c.5924A>G (p.Glu1975Gly) c.5987A>G (p.Glu1996Gly) c.6035A>G (p.Glu2012Gly) c.6017A>G (p.Glu2006Gly) c.5945A>G (p.Glu1982Gly) c.5972A>G (p.Glu1991Gly) c.5975A>G (p.Glu1992Gly) c.6014A>G (p.Glu2005Gly) c.5984A>G (p.Glu1995Gly) n.2806A>G c.5879A>G (p.Glu1960Gly) c.5942A>G (p.Glu1981Gly) c.5882A>G (p.Glu1961Gly) c.6080A>G (p.Glu2027Gly) c.6077A>G (p.Glu2026Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.71679210A>T | CA347226560 | DYSF | c.3452A>T (p.Glu1151Val) c.2669A>T (p.Glu890Val) c.2777A>T (p.Glu926Val) c.5921A>T (p.Glu1974Val) c.6038A>T (p.Glu2013Val) c.5924A>T (p.Glu1975Val) c.5987A>T (p.Glu1996Val) c.6035A>T (p.Glu2012Val) c.6017A>T (p.Glu2006Val) c.5945A>T (p.Glu1982Val) c.5972A>T (p.Glu1991Val) c.5975A>T (p.Glu1992Val) c.6014A>T (p.Glu2005Val) c.5984A>T (p.Glu1995Val) n.2806A>T c.5879A>T (p.Glu1960Val) c.5942A>T (p.Glu1981Val) c.5882A>T (p.Glu1961Val) c.6080A>T (p.Glu2027Val) c.6077A>T (p.Glu2026Val) | |
| 2 | g.71679211A>C | CA347226564 | DYSF | c.3453A>C (p.Glu1151Asp) c.2670A>C (p.Glu890Asp) c.2778A>C (p.Glu926Asp) c.5922A>C (p.Glu1974Asp) c.6039A>C (p.Glu2013Asp) c.5925A>C (p.Glu1975Asp) c.5988A>C (p.Glu1996Asp) c.6036A>C (p.Glu2012Asp) c.6018A>C (p.Glu2006Asp) c.5946A>C (p.Glu1982Asp) c.5973A>C (p.Glu1991Asp) c.5976A>C (p.Glu1992Asp) c.6015A>C (p.Glu2005Asp) c.5985A>C (p.Glu1995Asp) n.2807A>C c.5880A>C (p.Glu1960Asp) c.5943A>C (p.Glu1981Asp) c.5883A>C (p.Glu1961Asp) c.6081A>C (p.Glu2027Asp) c.6078A>C (p.Glu2026Asp) |