WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71679173C>A | CA347226462 | DYSF | c.3415C>A (p.Gln1139Lys) c.2632C>A (p.Gln878Lys) c.2740C>A (p.Gln914Lys) c.5884C>A (p.Gln1962Lys) c.6001C>A (p.Gln2001Lys) c.5887C>A (p.Gln1963Lys) c.5950C>A (p.Gln1984Lys) c.5998C>A (p.Gln2000Lys) c.5980C>A (p.Gln1994Lys) c.5908C>A (p.Gln1970Lys) c.5935C>A (p.Gln1979Lys) c.5938C>A (p.Gln1980Lys) c.5977C>A (p.Gln1993Lys) c.5947C>A (p.Gln1983Lys) n.2769C>A c.5842C>A (p.Gln1948Lys) c.5905C>A (p.Gln1969Lys) c.5845C>A (p.Gln1949Lys) c.6043C>A (p.Gln2015Lys) c.6040C>A (p.Gln2014Lys) | |
| 2 | g.71679173C= | CA1260156879 | DYSF | c.3415C= (p.Gln1139=) c.2632C= (p.Gln878=) c.2740C= (p.Gln914=) c.5884C= (p.Gln1962=) c.6001C= (p.Gln2001=) c.5887C= (p.Gln1963=) c.5950C= (p.Gln1984=) c.5998C= (p.Gln2000=) c.5980C= (p.Gln1994=) c.5908C= (p.Gln1970=) c.5935C= (p.Gln1979=) c.5938C= (p.Gln1980=) c.5977C= (p.Gln1993=) c.5947C= (p.Gln1983=) n.2769C= c.5842C= (p.Gln1948=) c.5905C= (p.Gln1969=) c.5845C= (p.Gln1949=) c.6043C= (p.Gln2015=) c.6040C= (p.Gln2014=) | |
| 2 | g.71679173C>G | CA347226463 | DYSF | c.3415C>G (p.Gln1139Glu) c.2632C>G (p.Gln878Glu) c.2740C>G (p.Gln914Glu) c.5884C>G (p.Gln1962Glu) c.6001C>G (p.Gln2001Glu) c.5887C>G (p.Gln1963Glu) c.5950C>G (p.Gln1984Glu) c.5998C>G (p.Gln2000Glu) c.5980C>G (p.Gln1994Glu) c.5908C>G (p.Gln1970Glu) c.5935C>G (p.Gln1979Glu) c.5938C>G (p.Gln1980Glu) c.5977C>G (p.Gln1993Glu) c.5947C>G (p.Gln1983Glu) n.2769C>G c.5842C>G (p.Gln1948Glu) c.5905C>G (p.Gln1969Glu) c.5845C>G (p.Gln1949Glu) c.6043C>G (p.Gln2015Glu) c.6040C>G (p.Gln2014Glu) | |
| 2 | g.71679173C>T | CA16617750 | DYSF | c.3415C>T (p.Gln1139Ter) c.2632C>T (p.Gln878Ter) c.2740C>T (p.Gln914Ter) c.5884C>T (p.Gln1962Ter) c.6001C>T (p.Gln2001Ter) c.5887C>T (p.Gln1963Ter) c.5950C>T (p.Gln1984Ter) c.5998C>T (p.Gln2000Ter) c.5980C>T (p.Gln1994Ter) c.5908C>T (p.Gln1970Ter) c.5935C>T (p.Gln1979Ter) c.5938C>T (p.Gln1980Ter) c.5977C>T (p.Gln1993Ter) c.5947C>T (p.Gln1983Ter) n.2769C>T c.5842C>T (p.Gln1948Ter) c.5905C>T (p.Gln1969Ter) c.5845C>T (p.Gln1949Ter) c.6043C>T (p.Gln2015Ter) c.6040C>T (p.Gln2014Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.71679174A= | CA1260156880 | DYSF | c.3416A= (p.Gln1139=) c.2633A= (p.Gln878=) c.2741A= (p.Gln914=) c.5885A= (p.Gln1962=) c.6002A= (p.Gln2001=) c.5888A= (p.Gln1963=) c.5951A= (p.Gln1984=) c.5999A= (p.Gln2000=) c.5981A= (p.Gln1994=) c.5909A= (p.Gln1970=) c.5936A= (p.Gln1979=) c.5939A= (p.Gln1980=) c.5978A= (p.Gln1993=) c.5948A= (p.Gln1983=) n.2770A= c.5843A= (p.Gln1948=) c.5906A= (p.Gln1969=) c.5846A= (p.Gln1949=) c.6044A= (p.Gln2015=) c.6041A= (p.Gln2014=) | |
| 2 | g.71679174A>C | CA347226464 | DYSF | c.3416A>C (p.Gln1139Pro) c.2633A>C (p.Gln878Pro) c.2741A>C (p.Gln914Pro) c.5885A>C (p.Gln1962Pro) c.6002A>C (p.Gln2001Pro) c.5888A>C (p.Gln1963Pro) c.5951A>C (p.Gln1984Pro) c.5999A>C (p.Gln2000Pro) c.5981A>C (p.Gln1994Pro) c.5909A>C (p.Gln1970Pro) c.5936A>C (p.Gln1979Pro) c.5939A>C (p.Gln1980Pro) c.5978A>C (p.Gln1993Pro) c.5948A>C (p.Gln1983Pro) n.2770A>C c.5843A>C (p.Gln1948Pro) c.5906A>C (p.Gln1969Pro) c.5846A>C (p.Gln1949Pro) c.6044A>C (p.Gln2015Pro) c.6041A>C (p.Gln2014Pro) | |
| 2 | g.71679174A>G | CA347226465 | DYSF | c.3416A>G (p.Gln1139Arg) c.2633A>G (p.Gln878Arg) c.2741A>G (p.Gln914Arg) c.5885A>G (p.Gln1962Arg) c.6002A>G (p.Gln2001Arg) c.5888A>G (p.Gln1963Arg) c.5951A>G (p.Gln1984Arg) c.5999A>G (p.Gln2000Arg) c.5981A>G (p.Gln1994Arg) c.5909A>G (p.Gln1970Arg) c.5936A>G (p.Gln1979Arg) c.5939A>G (p.Gln1980Arg) c.5978A>G (p.Gln1993Arg) c.5948A>G (p.Gln1983Arg) n.2770A>G c.5843A>G (p.Gln1948Arg) c.5906A>G (p.Gln1969Arg) c.5846A>G (p.Gln1949Arg) c.6044A>G (p.Gln2015Arg) c.6041A>G (p.Gln2014Arg) | |
| 2 | g.71679174A>T | CA347226466 | DYSF | c.3416A>T (p.Gln1139Leu) c.2633A>T (p.Gln878Leu) c.2741A>T (p.Gln914Leu) c.5885A>T (p.Gln1962Leu) c.6002A>T (p.Gln2001Leu) c.5888A>T (p.Gln1963Leu) c.5951A>T (p.Gln1984Leu) c.5999A>T (p.Gln2000Leu) c.5981A>T (p.Gln1994Leu) c.5909A>T (p.Gln1970Leu) c.5936A>T (p.Gln1979Leu) c.5939A>T (p.Gln1980Leu) c.5978A>T (p.Gln1993Leu) c.5948A>T (p.Gln1983Leu) n.2770A>T c.5843A>T (p.Gln1948Leu) c.5906A>T (p.Gln1969Leu) c.5846A>T (p.Gln1949Leu) c.6044A>T (p.Gln2015Leu) c.6041A>T (p.Gln2014Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.71679175G>A | CA426704732 | DYSF | c.3417G>A (p.Gln1139=) c.2634G>A (p.Gln878=) c.2742G>A (p.Gln914=) c.5886G>A (p.Gln1962=) c.6003G>A (p.Gln2001=) c.5889G>A (p.Gln1963=) c.5952G>A (p.Gln1984=) c.6000G>A (p.Gln2000=) c.5982G>A (p.Gln1994=) c.5910G>A (p.Gln1970=) c.5937G>A (p.Gln1979=) c.5940G>A (p.Gln1980=) c.5979G>A (p.Gln1993=) c.5949G>A (p.Gln1983=) n.2771G>A c.5844G>A (p.Gln1948=) c.5907G>A (p.Gln1969=) c.5847G>A (p.Gln1949=) c.6045G>A (p.Gln2015=) c.6042G>A (p.Gln2014=) | |
| 2 | g.71679175G>C | CA347226467 | DYSF | c.3417G>C (p.Gln1139His) c.2634G>C (p.Gln878His) c.2742G>C (p.Gln914His) c.5886G>C (p.Gln1962His) c.6003G>C (p.Gln2001His) c.5889G>C (p.Gln1963His) c.5952G>C (p.Gln1984His) c.6000G>C (p.Gln2000His) c.5982G>C (p.Gln1994His) c.5910G>C (p.Gln1970His) c.5937G>C (p.Gln1979His) c.5940G>C (p.Gln1980His) c.5979G>C (p.Gln1993His) c.5949G>C (p.Gln1983His) n.2771G>C c.5844G>C (p.Gln1948His) c.5907G>C (p.Gln1969His) c.5847G>C (p.Gln1949His) c.6045G>C (p.Gln2015His) c.6042G>C (p.Gln2014His) | |
| 2 | g.71679175G>T | CA347226468 | DYSF | c.3417G>T (p.Gln1139His) c.2634G>T (p.Gln878His) c.2742G>T (p.Gln914His) c.5886G>T (p.Gln1962His) c.6003G>T (p.Gln2001His) c.5889G>T (p.Gln1963His) c.5952G>T (p.Gln1984His) c.6000G>T (p.Gln2000His) c.5982G>T (p.Gln1994His) c.5910G>T (p.Gln1970His) c.5937G>T (p.Gln1979His) c.5940G>T (p.Gln1980His) c.5979G>T (p.Gln1993His) c.5949G>T (p.Gln1983His) n.2771G>T c.5844G>T (p.Gln1948His) c.5907G>T (p.Gln1969His) c.5847G>T (p.Gln1949His) c.6045G>T (p.Gln2015His) c.6042G>T (p.Gln2014His) | |
| 2 | g.71679176A>C | CA347226469 | DYSF | c.3418A>C (p.Lys1140Gln) c.2635A>C (p.Lys879Gln) c.2743A>C (p.Lys915Gln) c.5887A>C (p.Lys1963Gln) c.6004A>C (p.Lys2002Gln) c.5890A>C (p.Lys1964Gln) c.5953A>C (p.Lys1985Gln) c.6001A>C (p.Lys2001Gln) c.5983A>C (p.Lys1995Gln) c.5911A>C (p.Lys1971Gln) c.5938A>C (p.Lys1980Gln) c.5941A>C (p.Lys1981Gln) c.5980A>C (p.Lys1994Gln) c.5950A>C (p.Lys1984Gln) n.2772A>C c.5845A>C (p.Lys1949Gln) c.5908A>C (p.Lys1970Gln) c.5848A>C (p.Lys1950Gln) c.6046A>C (p.Lys2016Gln) c.6043A>C (p.Lys2015Gln) | |
| 2 | g.71679176A>G | CA347226470 | DYSF | c.3418A>G (p.Lys1140Glu) c.2635A>G (p.Lys879Glu) c.2743A>G (p.Lys915Glu) c.5887A>G (p.Lys1963Glu) c.6004A>G (p.Lys2002Glu) c.5890A>G (p.Lys1964Glu) c.5953A>G (p.Lys1985Glu) c.6001A>G (p.Lys2001Glu) c.5983A>G (p.Lys1995Glu) c.5911A>G (p.Lys1971Glu) c.5938A>G (p.Lys1980Glu) c.5941A>G (p.Lys1981Glu) c.5980A>G (p.Lys1994Glu) c.5950A>G (p.Lys1984Glu) n.2772A>G c.5845A>G (p.Lys1949Glu) c.5908A>G (p.Lys1970Glu) c.5848A>G (p.Lys1950Glu) c.6046A>G (p.Lys2016Glu) c.6043A>G (p.Lys2015Glu) | gnomAD v4 |
| 2 | g.71679176A>T | CA347226471 | DYSF | c.3418A>T (p.Lys1140Ter) c.2635A>T (p.Lys879Ter) c.2743A>T (p.Lys915Ter) c.5887A>T (p.Lys1963Ter) c.6004A>T (p.Lys2002Ter) c.5890A>T (p.Lys1964Ter) c.5953A>T (p.Lys1985Ter) c.6001A>T (p.Lys2001Ter) c.5983A>T (p.Lys1995Ter) c.5911A>T (p.Lys1971Ter) c.5938A>T (p.Lys1980Ter) c.5941A>T (p.Lys1981Ter) c.5980A>T (p.Lys1994Ter) c.5950A>T (p.Lys1984Ter) n.2772A>T c.5845A>T (p.Lys1949Ter) c.5908A>T (p.Lys1970Ter) c.5848A>T (p.Lys1950Ter) c.6046A>T (p.Lys2016Ter) c.6043A>T (p.Lys2015Ter) | |
| 2 | g.71679177A>C | CA347226472 | DYSF | c.3419A>C (p.Lys1140Thr) c.2636A>C (p.Lys879Thr) c.2744A>C (p.Lys915Thr) c.5888A>C (p.Lys1963Thr) c.6005A>C (p.Lys2002Thr) c.5891A>C (p.Lys1964Thr) c.5954A>C (p.Lys1985Thr) c.6002A>C (p.Lys2001Thr) c.5984A>C (p.Lys1995Thr) c.5912A>C (p.Lys1971Thr) c.5939A>C (p.Lys1980Thr) c.5942A>C (p.Lys1981Thr) c.5981A>C (p.Lys1994Thr) c.5951A>C (p.Lys1984Thr) n.2773A>C c.5846A>C (p.Lys1949Thr) c.5909A>C (p.Lys1970Thr) c.5849A>C (p.Lys1950Thr) c.6047A>C (p.Lys2016Thr) c.6044A>C (p.Lys2015Thr) | |
| 2 | g.71679177A>G | CA347226473 | DYSF | c.3419A>G (p.Lys1140Arg) c.2636A>G (p.Lys879Arg) c.2744A>G (p.Lys915Arg) c.5888A>G (p.Lys1963Arg) c.6005A>G (p.Lys2002Arg) c.5891A>G (p.Lys1964Arg) c.5954A>G (p.Lys1985Arg) c.6002A>G (p.Lys2001Arg) c.5984A>G (p.Lys1995Arg) c.5912A>G (p.Lys1971Arg) c.5939A>G (p.Lys1980Arg) c.5942A>G (p.Lys1981Arg) c.5981A>G (p.Lys1994Arg) c.5951A>G (p.Lys1984Arg) n.2773A>G c.5846A>G (p.Lys1949Arg) c.5909A>G (p.Lys1970Arg) c.5849A>G (p.Lys1950Arg) c.6047A>G (p.Lys2016Arg) c.6044A>G (p.Lys2015Arg) | |
| 2 | g.71679177A>T | CA347226474 | DYSF | c.3419A>T (p.Lys1140Ile) c.2636A>T (p.Lys879Ile) c.2744A>T (p.Lys915Ile) c.5888A>T (p.Lys1963Ile) c.6005A>T (p.Lys2002Ile) c.5891A>T (p.Lys1964Ile) c.5954A>T (p.Lys1985Ile) c.6002A>T (p.Lys2001Ile) c.5984A>T (p.Lys1995Ile) c.5912A>T (p.Lys1971Ile) c.5939A>T (p.Lys1980Ile) c.5942A>T (p.Lys1981Ile) c.5981A>T (p.Lys1994Ile) c.5951A>T (p.Lys1984Ile) n.2773A>T c.5846A>T (p.Lys1949Ile) c.5909A>T (p.Lys1970Ile) c.5849A>T (p.Lys1950Ile) c.6047A>T (p.Lys2016Ile) c.6044A>T (p.Lys2015Ile) | |
| 2 | g.71679178A>C | CA347226475 | DYSF | c.3420A>C (p.Lys1140Asn) c.2637A>C (p.Lys879Asn) c.2745A>C (p.Lys915Asn) c.5889A>C (p.Lys1963Asn) c.6006A>C (p.Lys2002Asn) c.5892A>C (p.Lys1964Asn) c.5955A>C (p.Lys1985Asn) c.6003A>C (p.Lys2001Asn) c.5985A>C (p.Lys1995Asn) c.5913A>C (p.Lys1971Asn) c.5940A>C (p.Lys1980Asn) c.5943A>C (p.Lys1981Asn) c.5982A>C (p.Lys1994Asn) c.5952A>C (p.Lys1984Asn) n.2774A>C c.5847A>C (p.Lys1949Asn) c.5910A>C (p.Lys1970Asn) c.5850A>C (p.Lys1950Asn) c.6048A>C (p.Lys2016Asn) c.6045A>C (p.Lys2015Asn) | |
| 2 | g.71679178A>G | CA426704733 | DYSF | c.3420A>G (p.Lys1140=) c.2637A>G (p.Lys879=) c.2745A>G (p.Lys915=) c.5889A>G (p.Lys1963=) c.6006A>G (p.Lys2002=) c.5892A>G (p.Lys1964=) c.5955A>G (p.Lys1985=) c.6003A>G (p.Lys2001=) c.5985A>G (p.Lys1995=) c.5913A>G (p.Lys1971=) c.5940A>G (p.Lys1980=) c.5943A>G (p.Lys1981=) c.5982A>G (p.Lys1994=) c.5952A>G (p.Lys1984=) n.2774A>G c.5847A>G (p.Lys1949=) c.5910A>G (p.Lys1970=) c.5850A>G (p.Lys1950=) c.6048A>G (p.Lys2016=) c.6045A>G (p.Lys2015=) | |
| 2 | g.71679178A>T | CA347226476 | DYSF | c.3420A>T (p.Lys1140Asn) c.2637A>T (p.Lys879Asn) c.2745A>T (p.Lys915Asn) c.5889A>T (p.Lys1963Asn) c.6006A>T (p.Lys2002Asn) c.5892A>T (p.Lys1964Asn) c.5955A>T (p.Lys1985Asn) c.6003A>T (p.Lys2001Asn) c.5985A>T (p.Lys1995Asn) c.5913A>T (p.Lys1971Asn) c.5940A>T (p.Lys1980Asn) c.5943A>T (p.Lys1981Asn) c.5982A>T (p.Lys1994Asn) c.5952A>T (p.Lys1984Asn) n.2774A>T c.5847A>T (p.Lys1949Asn) c.5910A>T (p.Lys1970Asn) c.5850A>T (p.Lys1950Asn) c.6048A>T (p.Lys2016Asn) c.6045A>T (p.Lys2015Asn) | |
| 2 | g.71679179A>C | CA347226477 | DYSF | c.3421A>C (p.Thr1141Pro) c.2638A>C (p.Thr880Pro) c.2746A>C (p.Thr916Pro) c.5890A>C (p.Thr1964Pro) c.6007A>C (p.Thr2003Pro) c.5893A>C (p.Thr1965Pro) c.5956A>C (p.Thr1986Pro) c.6004A>C (p.Thr2002Pro) c.5986A>C (p.Thr1996Pro) c.5914A>C (p.Thr1972Pro) c.5941A>C (p.Thr1981Pro) c.5944A>C (p.Thr1982Pro) c.5983A>C (p.Thr1995Pro) c.5953A>C (p.Thr1985Pro) n.2775A>C c.5848A>C (p.Thr1950Pro) c.5911A>C (p.Thr1971Pro) c.5851A>C (p.Thr1951Pro) c.6049A>C (p.Thr2017Pro) c.6046A>C (p.Thr2016Pro) | |
| 2 | g.71679179A>G | CA347226478 | DYSF | c.3421A>G (p.Thr1141Ala) c.2638A>G (p.Thr880Ala) c.2746A>G (p.Thr916Ala) c.5890A>G (p.Thr1964Ala) c.6007A>G (p.Thr2003Ala) c.5893A>G (p.Thr1965Ala) c.5956A>G (p.Thr1986Ala) c.6004A>G (p.Thr2002Ala) c.5986A>G (p.Thr1996Ala) c.5914A>G (p.Thr1972Ala) c.5941A>G (p.Thr1981Ala) c.5944A>G (p.Thr1982Ala) c.5983A>G (p.Thr1995Ala) c.5953A>G (p.Thr1985Ala) n.2775A>G c.5848A>G (p.Thr1950Ala) c.5911A>G (p.Thr1971Ala) c.5851A>G (p.Thr1951Ala) c.6049A>G (p.Thr2017Ala) c.6046A>G (p.Thr2016Ala) | gnomAD v4 |
| 2 | g.71679179A>T | CA347226479 | DYSF | c.3421A>T (p.Thr1141Ser) c.2638A>T (p.Thr880Ser) c.2746A>T (p.Thr916Ser) c.5890A>T (p.Thr1964Ser) c.6007A>T (p.Thr2003Ser) c.5893A>T (p.Thr1965Ser) c.5956A>T (p.Thr1986Ser) c.6004A>T (p.Thr2002Ser) c.5986A>T (p.Thr1996Ser) c.5914A>T (p.Thr1972Ser) c.5941A>T (p.Thr1981Ser) c.5944A>T (p.Thr1982Ser) c.5983A>T (p.Thr1995Ser) c.5953A>T (p.Thr1985Ser) n.2775A>T c.5848A>T (p.Thr1950Ser) c.5911A>T (p.Thr1971Ser) c.5851A>T (p.Thr1951Ser) c.6049A>T (p.Thr2017Ser) c.6046A>T (p.Thr2016Ser) | |
| 2 | g.71679180C>A | CA347226480 | DYSF | c.3422C>A (p.Thr1141Lys) c.2639C>A (p.Thr880Lys) c.2747C>A (p.Thr916Lys) c.5891C>A (p.Thr1964Lys) c.6008C>A (p.Thr2003Lys) c.5894C>A (p.Thr1965Lys) c.5957C>A (p.Thr1986Lys) c.6005C>A (p.Thr2002Lys) c.5987C>A (p.Thr1996Lys) c.5915C>A (p.Thr1972Lys) c.5942C>A (p.Thr1981Lys) c.5945C>A (p.Thr1982Lys) c.5984C>A (p.Thr1995Lys) c.5954C>A (p.Thr1985Lys) n.2776C>A c.5849C>A (p.Thr1950Lys) c.5912C>A (p.Thr1971Lys) c.5852C>A (p.Thr1951Lys) c.6050C>A (p.Thr2017Lys) c.6047C>A (p.Thr2016Lys) | |
| 2 | g.71679180C= | CA1260156881 | DYSF | c.3422C= (p.Thr1141=) c.2639C= (p.Thr880=) c.2747C= (p.Thr916=) c.5891C= (p.Thr1964=) c.6008C= (p.Thr2003=) c.5894C= (p.Thr1965=) c.5957C= (p.Thr1986=) c.6005C= (p.Thr2002=) c.5987C= (p.Thr1996=) c.5915C= (p.Thr1972=) c.5942C= (p.Thr1981=) c.5945C= (p.Thr1982=) c.5984C= (p.Thr1995=) c.5954C= (p.Thr1985=) n.2776C= c.5849C= (p.Thr1950=) c.5912C= (p.Thr1971=) c.5852C= (p.Thr1951=) c.6050C= (p.Thr2017=) c.6047C= (p.Thr2016=) | |
| 2 | g.71679180C>G | CA347226481 | DYSF | c.3422C>G (p.Thr1141Arg) c.2639C>G (p.Thr880Arg) c.2747C>G (p.Thr916Arg) c.5891C>G (p.Thr1964Arg) c.6008C>G (p.Thr2003Arg) c.5894C>G (p.Thr1965Arg) c.5957C>G (p.Thr1986Arg) c.6005C>G (p.Thr2002Arg) c.5987C>G (p.Thr1996Arg) c.5915C>G (p.Thr1972Arg) c.5942C>G (p.Thr1981Arg) c.5945C>G (p.Thr1982Arg) c.5984C>G (p.Thr1995Arg) c.5954C>G (p.Thr1985Arg) n.2776C>G c.5849C>G (p.Thr1950Arg) c.5912C>G (p.Thr1971Arg) c.5852C>G (p.Thr1951Arg) c.6050C>G (p.Thr2017Arg) c.6047C>G (p.Thr2016Arg) | |
| 2 | g.71679180C>T | CA1707564 | DYSF | c.3422C>T (p.Thr1141Ile) c.2639C>T (p.Thr880Ile) c.2747C>T (p.Thr916Ile) c.5891C>T (p.Thr1964Ile) c.6008C>T (p.Thr2003Ile) c.5894C>T (p.Thr1965Ile) c.5957C>T (p.Thr1986Ile) c.6005C>T (p.Thr2002Ile) c.5987C>T (p.Thr1996Ile) c.5915C>T (p.Thr1972Ile) c.5942C>T (p.Thr1981Ile) c.5945C>T (p.Thr1982Ile) c.5984C>T (p.Thr1995Ile) c.5954C>T (p.Thr1985Ile) n.2776C>T c.5849C>T (p.Thr1950Ile) c.5912C>T (p.Thr1971Ile) c.5852C>T (p.Thr1951Ile) c.6050C>T (p.Thr2017Ile) c.6047C>T (p.Thr2016Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.71679181A>C | CA426704734 | DYSF | c.3423A>C (p.Thr1141=) c.2640A>C (p.Thr880=) c.2748A>C (p.Thr916=) c.5892A>C (p.Thr1964=) c.6009A>C (p.Thr2003=) c.5895A>C (p.Thr1965=) c.5958A>C (p.Thr1986=) c.6006A>C (p.Thr2002=) c.5988A>C (p.Thr1996=) c.5916A>C (p.Thr1972=) c.5943A>C (p.Thr1981=) c.5946A>C (p.Thr1982=) c.5985A>C (p.Thr1995=) c.5955A>C (p.Thr1985=) n.2777A>C c.5850A>C (p.Thr1950=) c.5913A>C (p.Thr1971=) c.5853A>C (p.Thr1951=) c.6051A>C (p.Thr2017=) c.6048A>C (p.Thr2016=) | |
| 2 | g.71679181A>G | CA426704735 | DYSF | c.3423A>G (p.Thr1141=) c.2640A>G (p.Thr880=) c.2748A>G (p.Thr916=) c.5892A>G (p.Thr1964=) c.6009A>G (p.Thr2003=) c.5895A>G (p.Thr1965=) c.5958A>G (p.Thr1986=) c.6006A>G (p.Thr2002=) c.5988A>G (p.Thr1996=) c.5916A>G (p.Thr1972=) c.5943A>G (p.Thr1981=) c.5946A>G (p.Thr1982=) c.5985A>G (p.Thr1995=) c.5955A>G (p.Thr1985=) n.2777A>G c.5850A>G (p.Thr1950=) c.5913A>G (p.Thr1971=) c.5853A>G (p.Thr1951=) c.6051A>G (p.Thr2017=) c.6048A>G (p.Thr2016=) | |
| 2 | g.71679181A>T | CA426704736 | DYSF | c.3423A>T (p.Thr1141=) c.2640A>T (p.Thr880=) c.2748A>T (p.Thr916=) c.5892A>T (p.Thr1964=) c.6009A>T (p.Thr2003=) c.5895A>T (p.Thr1965=) c.5958A>T (p.Thr1986=) c.6006A>T (p.Thr2002=) c.5988A>T (p.Thr1996=) c.5916A>T (p.Thr1972=) c.5943A>T (p.Thr1981=) c.5946A>T (p.Thr1982=) c.5985A>T (p.Thr1995=) c.5955A>T (p.Thr1985=) n.2777A>T c.5850A>T (p.Thr1950=) c.5913A>T (p.Thr1971=) c.5853A>T (p.Thr1951=) c.6051A>T (p.Thr2017=) c.6048A>T (p.Thr2016=) | |
| 2 | g.71679182G>A | CA347226484 | DYSF | c.3424G>A (p.Val1142Met) c.2641G>A (p.Val881Met) c.2749G>A (p.Val917Met) c.5893G>A (p.Val1965Met) c.6010G>A (p.Val2004Met) c.5896G>A (p.Val1966Met) c.5959G>A (p.Val1987Met) c.6007G>A (p.Val2003Met) c.5989G>A (p.Val1997Met) c.5917G>A (p.Val1973Met) c.5944G>A (p.Val1982Met) c.5947G>A (p.Val1983Met) c.5986G>A (p.Val1996Met) c.5956G>A (p.Val1986Met) n.2778G>A c.5851G>A (p.Val1951Met) c.5914G>A (p.Val1972Met) c.5854G>A (p.Val1952Met) c.6052G>A (p.Val2018Met) c.6049G>A (p.Val2017Met) | |
| 2 | g.71679182G>C | CA347226483 | DYSF | c.3424G>C (p.Val1142Leu) c.2641G>C (p.Val881Leu) c.2749G>C (p.Val917Leu) c.5893G>C (p.Val1965Leu) c.6010G>C (p.Val2004Leu) c.5896G>C (p.Val1966Leu) c.5959G>C (p.Val1987Leu) c.6007G>C (p.Val2003Leu) c.5989G>C (p.Val1997Leu) c.5917G>C (p.Val1973Leu) c.5944G>C (p.Val1982Leu) c.5947G>C (p.Val1983Leu) c.5986G>C (p.Val1996Leu) c.5956G>C (p.Val1986Leu) n.2778G>C c.5851G>C (p.Val1951Leu) c.5914G>C (p.Val1972Leu) c.5854G>C (p.Val1952Leu) c.6052G>C (p.Val2018Leu) c.6049G>C (p.Val2017Leu) | |
| 2 | g.71679182G>T | CA347226482 | DYSF | c.3424G>T (p.Val1142Leu) c.2641G>T (p.Val881Leu) c.2749G>T (p.Val917Leu) c.5893G>T (p.Val1965Leu) c.6010G>T (p.Val2004Leu) c.5896G>T (p.Val1966Leu) c.5959G>T (p.Val1987Leu) c.6007G>T (p.Val2003Leu) c.5989G>T (p.Val1997Leu) c.5917G>T (p.Val1973Leu) c.5944G>T (p.Val1982Leu) c.5947G>T (p.Val1983Leu) c.5986G>T (p.Val1996Leu) c.5956G>T (p.Val1986Leu) n.2778G>T c.5851G>T (p.Val1951Leu) c.5914G>T (p.Val1972Leu) c.5854G>T (p.Val1952Leu) c.6052G>T (p.Val2018Leu) c.6049G>T (p.Val2017Leu) | |
| 2 | g.71679183T>A | CA347226485 | DYSF | c.3425T>A (p.Val1142Glu) c.2642T>A (p.Val881Glu) c.2750T>A (p.Val917Glu) c.5894T>A (p.Val1965Glu) c.6011T>A (p.Val2004Glu) c.5897T>A (p.Val1966Glu) c.5960T>A (p.Val1987Glu) c.6008T>A (p.Val2003Glu) c.5990T>A (p.Val1997Glu) c.5918T>A (p.Val1973Glu) c.5945T>A (p.Val1982Glu) c.5948T>A (p.Val1983Glu) c.5987T>A (p.Val1996Glu) c.5957T>A (p.Val1986Glu) n.2779T>A c.5852T>A (p.Val1951Glu) c.5915T>A (p.Val1972Glu) c.5855T>A (p.Val1952Glu) c.6053T>A (p.Val2018Glu) c.6050T>A (p.Val2017Glu) | |
| 2 | g.71679183T>C | CA347226486 | DYSF | c.3425T>C (p.Val1142Ala) c.2642T>C (p.Val881Ala) c.2750T>C (p.Val917Ala) c.5894T>C (p.Val1965Ala) c.6011T>C (p.Val2004Ala) c.5897T>C (p.Val1966Ala) c.5960T>C (p.Val1987Ala) c.6008T>C (p.Val2003Ala) c.5990T>C (p.Val1997Ala) c.5918T>C (p.Val1973Ala) c.5945T>C (p.Val1982Ala) c.5948T>C (p.Val1983Ala) c.5987T>C (p.Val1996Ala) c.5957T>C (p.Val1986Ala) n.2779T>C c.5852T>C (p.Val1951Ala) c.5915T>C (p.Val1972Ala) c.5855T>C (p.Val1952Ala) c.6053T>C (p.Val2018Ala) c.6050T>C (p.Val2017Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.71679183T>G | CA347226487 | DYSF | c.3425T>G (p.Val1142Gly) c.2642T>G (p.Val881Gly) c.2750T>G (p.Val917Gly) c.5894T>G (p.Val1965Gly) c.6011T>G (p.Val2004Gly) c.5897T>G (p.Val1966Gly) c.5960T>G (p.Val1987Gly) c.6008T>G (p.Val2003Gly) c.5990T>G (p.Val1997Gly) c.5918T>G (p.Val1973Gly) c.5945T>G (p.Val1982Gly) c.5948T>G (p.Val1983Gly) c.5987T>G (p.Val1996Gly) c.5957T>G (p.Val1986Gly) n.2779T>G c.5852T>G (p.Val1951Gly) c.5915T>G (p.Val1972Gly) c.5855T>G (p.Val1952Gly) c.6053T>G (p.Val2018Gly) c.6050T>G (p.Val2017Gly) | |
| 2 | g.71679183T= | CA1260156882 | DYSF | c.3425T= (p.Val1142=) c.2642T= (p.Val881=) c.2750T= (p.Val917=) c.5894T= (p.Val1965=) c.6011T= (p.Val2004=) c.5897T= (p.Val1966=) c.5960T= (p.Val1987=) c.6008T= (p.Val2003=) c.5990T= (p.Val1997=) c.5918T= (p.Val1973=) c.5945T= (p.Val1982=) c.5948T= (p.Val1983=) c.5987T= (p.Val1996=) c.5957T= (p.Val1986=) n.2779T= c.5852T= (p.Val1951=) c.5915T= (p.Val1972=) c.5855T= (p.Val1952=) c.6053T= (p.Val2018=) c.6050T= (p.Val2017=) | |
| 2 | g.71679184G>A | CA426704737 | DYSF | c.3426G>A (p.Val1142=) c.2643G>A (p.Val881=) c.2751G>A (p.Val917=) c.5895G>A (p.Val1965=) c.6012G>A (p.Val2004=) c.5898G>A (p.Val1966=) c.5961G>A (p.Val1987=) c.6009G>A (p.Val2003=) c.5991G>A (p.Val1997=) c.5919G>A (p.Val1973=) c.5946G>A (p.Val1982=) c.5949G>A (p.Val1983=) c.5988G>A (p.Val1996=) c.5958G>A (p.Val1986=) n.2780G>A c.5853G>A (p.Val1951=) c.5916G>A (p.Val1972=) c.5856G>A (p.Val1952=) c.6054G>A (p.Val2018=) c.6051G>A (p.Val2017=) | ClinVar |
| 2 | g.71679184G>C | CA426704738 | DYSF | c.3426G>C (p.Val1142=) c.2643G>C (p.Val881=) c.2751G>C (p.Val917=) c.5895G>C (p.Val1965=) c.6012G>C (p.Val2004=) c.5898G>C (p.Val1966=) c.5961G>C (p.Val1987=) c.6009G>C (p.Val2003=) c.5991G>C (p.Val1997=) c.5919G>C (p.Val1973=) c.5946G>C (p.Val1982=) c.5949G>C (p.Val1983=) c.5988G>C (p.Val1996=) c.5958G>C (p.Val1986=) n.2780G>C c.5853G>C (p.Val1951=) c.5916G>C (p.Val1972=) c.5856G>C (p.Val1952=) c.6054G>C (p.Val2018=) c.6051G>C (p.Val2017=) | |
| 2 | g.71679184G>T | CA426704739 | DYSF | c.3426G>T (p.Val1142=) c.2643G>T (p.Val881=) c.2751G>T (p.Val917=) c.5895G>T (p.Val1965=) c.6012G>T (p.Val2004=) c.5898G>T (p.Val1966=) c.5961G>T (p.Val1987=) c.6009G>T (p.Val2003=) c.5991G>T (p.Val1997=) c.5919G>T (p.Val1973=) c.5946G>T (p.Val1982=) c.5949G>T (p.Val1983=) c.5988G>T (p.Val1996=) c.5958G>T (p.Val1986=) n.2780G>T c.5853G>T (p.Val1951=) c.5916G>T (p.Val1972=) c.5856G>T (p.Val1952=) c.6054G>T (p.Val2018=) c.6051G>T (p.Val2017=) | |
| 2 | g.71679185A>C | CA347226488 | DYSF | c.3427A>C (p.Lys1143Gln) c.2644A>C (p.Lys882Gln) c.2752A>C (p.Lys918Gln) c.5896A>C (p.Lys1966Gln) c.6013A>C (p.Lys2005Gln) c.5899A>C (p.Lys1967Gln) c.5962A>C (p.Lys1988Gln) c.6010A>C (p.Lys2004Gln) c.5992A>C (p.Lys1998Gln) c.5920A>C (p.Lys1974Gln) c.5947A>C (p.Lys1983Gln) c.5950A>C (p.Lys1984Gln) c.5989A>C (p.Lys1997Gln) c.5959A>C (p.Lys1987Gln) n.2781A>C c.5854A>C (p.Lys1952Gln) c.5917A>C (p.Lys1973Gln) c.5857A>C (p.Lys1953Gln) c.6055A>C (p.Lys2019Gln) c.6052A>C (p.Lys2018Gln) | |
| 2 | g.71679185A>G | CA347226489 | DYSF | c.3427A>G (p.Lys1143Glu) c.2644A>G (p.Lys882Glu) c.2752A>G (p.Lys918Glu) c.5896A>G (p.Lys1966Glu) c.6013A>G (p.Lys2005Glu) c.5899A>G (p.Lys1967Glu) c.5962A>G (p.Lys1988Glu) c.6010A>G (p.Lys2004Glu) c.5992A>G (p.Lys1998Glu) c.5920A>G (p.Lys1974Glu) c.5947A>G (p.Lys1983Glu) c.5950A>G (p.Lys1984Glu) c.5989A>G (p.Lys1997Glu) c.5959A>G (p.Lys1987Glu) n.2781A>G c.5854A>G (p.Lys1952Glu) c.5917A>G (p.Lys1973Glu) c.5857A>G (p.Lys1953Glu) c.6055A>G (p.Lys2019Glu) c.6052A>G (p.Lys2018Glu) | |
| 2 | g.71679185A>T | CA347226490 | DYSF | c.3427A>T (p.Lys1143Ter) c.2644A>T (p.Lys882Ter) c.2752A>T (p.Lys918Ter) c.5896A>T (p.Lys1966Ter) c.6013A>T (p.Lys2005Ter) c.5899A>T (p.Lys1967Ter) c.5962A>T (p.Lys1988Ter) c.6010A>T (p.Lys2004Ter) c.5992A>T (p.Lys1998Ter) c.5920A>T (p.Lys1974Ter) c.5947A>T (p.Lys1983Ter) c.5950A>T (p.Lys1984Ter) c.5989A>T (p.Lys1997Ter) c.5959A>T (p.Lys1987Ter) n.2781A>T c.5854A>T (p.Lys1952Ter) c.5917A>T (p.Lys1973Ter) c.5857A>T (p.Lys1953Ter) c.6055A>T (p.Lys2019Ter) c.6052A>T (p.Lys2018Ter) | |
| 2 | g.71679186A>C | CA347226491 | DYSF | c.3428A>C (p.Lys1143Thr) c.2645A>C (p.Lys882Thr) c.2753A>C (p.Lys918Thr) c.5897A>C (p.Lys1966Thr) c.6014A>C (p.Lys2005Thr) c.5900A>C (p.Lys1967Thr) c.5963A>C (p.Lys1988Thr) c.6011A>C (p.Lys2004Thr) c.5993A>C (p.Lys1998Thr) c.5921A>C (p.Lys1974Thr) c.5948A>C (p.Lys1983Thr) c.5951A>C (p.Lys1984Thr) c.5990A>C (p.Lys1997Thr) c.5960A>C (p.Lys1987Thr) n.2782A>C c.5855A>C (p.Lys1952Thr) c.5918A>C (p.Lys1973Thr) c.5858A>C (p.Lys1953Thr) c.6056A>C (p.Lys2019Thr) c.6053A>C (p.Lys2018Thr) | |
| 2 | g.71679186A>G | CA347226493 | DYSF | c.3428A>G (p.Lys1143Arg) c.2645A>G (p.Lys882Arg) c.2753A>G (p.Lys918Arg) c.5897A>G (p.Lys1966Arg) c.6014A>G (p.Lys2005Arg) c.5900A>G (p.Lys1967Arg) c.5963A>G (p.Lys1988Arg) c.6011A>G (p.Lys2004Arg) c.5993A>G (p.Lys1998Arg) c.5921A>G (p.Lys1974Arg) c.5948A>G (p.Lys1983Arg) c.5951A>G (p.Lys1984Arg) c.5990A>G (p.Lys1997Arg) c.5960A>G (p.Lys1987Arg) n.2782A>G c.5855A>G (p.Lys1952Arg) c.5918A>G (p.Lys1973Arg) c.5858A>G (p.Lys1953Arg) c.6056A>G (p.Lys2019Arg) c.6053A>G (p.Lys2018Arg) | |
| 2 | g.71679186A>T | CA347226492 | DYSF | c.3428A>T (p.Lys1143Met) c.2645A>T (p.Lys882Met) c.2753A>T (p.Lys918Met) c.5897A>T (p.Lys1966Met) c.6014A>T (p.Lys2005Met) c.5900A>T (p.Lys1967Met) c.5963A>T (p.Lys1988Met) c.6011A>T (p.Lys2004Met) c.5993A>T (p.Lys1998Met) c.5921A>T (p.Lys1974Met) c.5948A>T (p.Lys1983Met) c.5951A>T (p.Lys1984Met) c.5990A>T (p.Lys1997Met) c.5960A>T (p.Lys1987Met) n.2782A>T c.5855A>T (p.Lys1952Met) c.5918A>T (p.Lys1973Met) c.5858A>T (p.Lys1953Met) c.6056A>T (p.Lys2019Met) c.6053A>T (p.Lys2018Met) | |
| 2 | g.71679187G>A | CA426704740 | DYSF | c.3429G>A (p.Lys1143=) c.2646G>A (p.Lys882=) c.2754G>A (p.Lys918=) c.5898G>A (p.Lys1966=) c.6015G>A (p.Lys2005=) c.5901G>A (p.Lys1967=) c.5964G>A (p.Lys1988=) c.6012G>A (p.Lys2004=) c.5994G>A (p.Lys1998=) c.5922G>A (p.Lys1974=) c.5949G>A (p.Lys1983=) c.5952G>A (p.Lys1984=) c.5991G>A (p.Lys1997=) c.5961G>A (p.Lys1987=) n.2783G>A c.5856G>A (p.Lys1952=) c.5919G>A (p.Lys1973=) c.5859G>A (p.Lys1953=) c.6057G>A (p.Lys2019=) c.6054G>A (p.Lys2018=) | gnomAD v4 |
| 2 | g.71679187G>C | CA347226494 | DYSF | c.3429G>C (p.Lys1143Asn) c.2646G>C (p.Lys882Asn) c.2754G>C (p.Lys918Asn) c.5898G>C (p.Lys1966Asn) c.6015G>C (p.Lys2005Asn) c.5901G>C (p.Lys1967Asn) c.5964G>C (p.Lys1988Asn) c.6012G>C (p.Lys2004Asn) c.5994G>C (p.Lys1998Asn) c.5922G>C (p.Lys1974Asn) c.5949G>C (p.Lys1983Asn) c.5952G>C (p.Lys1984Asn) c.5991G>C (p.Lys1997Asn) c.5961G>C (p.Lys1987Asn) n.2783G>C c.5856G>C (p.Lys1952Asn) c.5919G>C (p.Lys1973Asn) c.5859G>C (p.Lys1953Asn) c.6057G>C (p.Lys2019Asn) c.6054G>C (p.Lys2018Asn) | |
| 2 | g.71679187G>T | CA347226495 | DYSF | c.3429G>T (p.Lys1143Asn) c.2646G>T (p.Lys882Asn) c.2754G>T (p.Lys918Asn) c.5898G>T (p.Lys1966Asn) c.6015G>T (p.Lys2005Asn) c.5901G>T (p.Lys1967Asn) c.5964G>T (p.Lys1988Asn) c.6012G>T (p.Lys2004Asn) c.5994G>T (p.Lys1998Asn) c.5922G>T (p.Lys1974Asn) c.5949G>T (p.Lys1983Asn) c.5952G>T (p.Lys1984Asn) c.5991G>T (p.Lys1997Asn) c.5961G>T (p.Lys1987Asn) n.2783G>T c.5856G>T (p.Lys1952Asn) c.5919G>T (p.Lys1973Asn) c.5859G>T (p.Lys1953Asn) c.6057G>T (p.Lys2019Asn) c.6054G>T (p.Lys2018Asn) | |
| 2 | g.71679189del | CA645530575 | DYSF | c.3431del (p.Gly1144AlafsTer6) c.2648del (p.Gly883AlafsTer6) c.2756del (p.Gly919AlafsTer6) c.5900del (p.Gly1967AlafsTer6) c.6017del (p.Gly2006AlafsTer6) c.5903del (p.Gly1968AlafsTer6) c.5966del (p.Gly1989AlafsTer6) c.6014del (p.Gly2005AlafsTer6) c.5996del (p.Gly1999AlafsTer6) c.5924del (p.Gly1975AlafsTer6) c.5951del (p.Gly1984AlafsTer6) c.5954del (p.Gly1985AlafsTer6) c.5993del (p.Gly1998AlafsTer6) c.5963del (p.Gly1988AlafsTer6) n.2785del c.5858del (p.Gly1953AlafsTer6) c.5921del (p.Gly1974AlafsTer6) c.5861del (p.Gly1954AlafsTer6) c.6059del (p.Gly2020AlafsTer6) c.6056del (p.Gly2019AlafsTer6) | COSMIC COSMIC |