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 |
|---|---|---|---|---|---|
| 9 | g.110800633_110800644del | CA2691186946 | MUSK | c.2255_2266del (p.Ser752_Tyr755del) c.1997_2008del (p.Ser666_Tyr669del) c.2231_2242del (p.Ser744_Tyr747del) c.1967_1978del (p.Ser656_Tyr659del) c.2285_2296del (p.Ser762_Tyr765del) c.2261_2272del (p.Ser754_Tyr757del) c.2315_2326del (p.Ser772_Tyr775del) c.1019_1030del (p.Ser340_Tyr343del) c.2021_2032del (p.Ser674_Tyr677del) c.995_1006del (p.Ser332_Tyr335del) | gnomAD v4 |
| 9 | g.110800638_110800644delinsGACTACT | CA1872205693 | MUSK | c.2260_2266delinsGACTACT (p.Asp754=) c.2002_2008delinsGACTACT (p.Asp668=) c.2236_2242delinsGACTACT (p.Asp746=) c.1972_1978delinsGACTACT (p.Asp658=) c.2290_2296delinsGACTACT (p.Asp764=) c.2266_2272delinsGACTACT (p.Asp756=) c.2320_2326delinsGACTACT (p.Asp774=) c.1024_1030delinsGACTACT (p.Asp342=) c.2026_2032delinsGACTACT (p.Asp676=) c.1000_1006delinsGACTACT (p.Asp334=) | |
| 9 | g.110800641_110800646del | CA915947123 | MUSK | c.2263_2268del (p.Tyr755_Tyr756del) c.2005_2010del (p.Tyr669_Tyr670del) c.2239_2244del (p.Tyr747_Tyr748del) c.1975_1980del (p.Tyr659_Tyr660del) c.2293_2298del (p.Tyr765_Tyr766del) c.2269_2274del (p.Tyr757_Tyr758del) c.2323_2328del (p.Tyr775_Tyr776del) c.1027_1032del (p.Tyr343_Tyr344del) c.2029_2034del (p.Tyr677_Tyr678del) c.1003_1008del (p.Tyr335_Tyr336del) | ClinVar dbSNP |
| 9 | g.110800643C>A | CA374478903 | MUSK | c.2265C>A (p.Tyr755Ter) c.2007C>A (p.Tyr669Ter) c.2241C>A (p.Tyr747Ter) c.1977C>A (p.Tyr659Ter) c.2295C>A (p.Tyr765Ter) c.2271C>A (p.Tyr757Ter) c.2325C>A (p.Tyr775Ter) c.1029C>A (p.Tyr343Ter) c.2031C>A (p.Tyr677Ter) c.1005C>A (p.Tyr335Ter) | |
| 9 | g.110800643C>G | CA374478905 | MUSK | c.2265C>G (p.Tyr755Ter) c.2007C>G (p.Tyr669Ter) c.2241C>G (p.Tyr747Ter) c.1977C>G (p.Tyr659Ter) c.2295C>G (p.Tyr765Ter) c.2271C>G (p.Tyr757Ter) c.2325C>G (p.Tyr775Ter) c.1029C>G (p.Tyr343Ter) c.2031C>G (p.Tyr677Ter) c.1005C>G (p.Tyr335Ter) | |
| 9 | g.110800643C>T | CA466900955 | MUSK | c.2265C>T (p.Tyr755=) c.2007C>T (p.Tyr669=) c.2241C>T (p.Tyr747=) c.1977C>T (p.Tyr659=) c.2295C>T (p.Tyr765=) c.2271C>T (p.Tyr757=) c.2325C>T (p.Tyr775=) c.1029C>T (p.Tyr343=) c.2031C>T (p.Tyr677=) c.1005C>T (p.Tyr335=) | |
| 9 | g.110800644T>A | CA374478911 | MUSK | c.2266T>A (p.Tyr756Asn) c.2008T>A (p.Tyr670Asn) c.2242T>A (p.Tyr748Asn) c.1978T>A (p.Tyr660Asn) c.2296T>A (p.Tyr766Asn) c.2272T>A (p.Tyr758Asn) c.2326T>A (p.Tyr776Asn) c.1030T>A (p.Tyr344Asn) c.2032T>A (p.Tyr678Asn) c.1006T>A (p.Tyr336Asn) | gnomAD v4 |
| 9 | g.110800644T>C | CA374478914 | MUSK | c.2266T>C (p.Tyr756His) c.2008T>C (p.Tyr670His) c.2242T>C (p.Tyr748His) c.1978T>C (p.Tyr660His) c.2296T>C (p.Tyr766His) c.2272T>C (p.Tyr758His) c.2326T>C (p.Tyr776His) c.1030T>C (p.Tyr344His) c.2032T>C (p.Tyr678His) c.1006T>C (p.Tyr336His) | gnomAD v4 |
| 9 | g.110800644T>G | CA374478917 | MUSK | c.2266T>G (p.Tyr756Asp) c.2008T>G (p.Tyr670Asp) c.2242T>G (p.Tyr748Asp) c.1978T>G (p.Tyr660Asp) c.2296T>G (p.Tyr766Asp) c.2272T>G (p.Tyr758Asp) c.2326T>G (p.Tyr776Asp) c.1030T>G (p.Tyr344Asp) c.2032T>G (p.Tyr678Asp) c.1006T>G (p.Tyr336Asp) | |
| 9 | g.110800645A>C | CA374478920 | MUSK | c.2267A>C (p.Tyr756Ser) c.2009A>C (p.Tyr670Ser) c.2243A>C (p.Tyr748Ser) c.1979A>C (p.Tyr660Ser) c.2297A>C (p.Tyr766Ser) c.2273A>C (p.Tyr758Ser) c.2327A>C (p.Tyr776Ser) c.1031A>C (p.Tyr344Ser) c.2033A>C (p.Tyr678Ser) c.1007A>C (p.Tyr336Ser) | |
| 9 | g.110800645A>G | CA374478921 | MUSK | c.2267A>G (p.Tyr756Cys) c.2009A>G (p.Tyr670Cys) c.2243A>G (p.Tyr748Cys) c.1979A>G (p.Tyr660Cys) c.2297A>G (p.Tyr766Cys) c.2273A>G (p.Tyr758Cys) c.2327A>G (p.Tyr776Cys) c.1031A>G (p.Tyr344Cys) c.2033A>G (p.Tyr678Cys) c.1007A>G (p.Tyr336Cys) | gnomAD v4 |
| 9 | g.110800645A>T | CA374478924 | MUSK | c.2267A>T (p.Tyr756Phe) c.2009A>T (p.Tyr670Phe) c.2243A>T (p.Tyr748Phe) c.1979A>T (p.Tyr660Phe) c.2297A>T (p.Tyr766Phe) c.2273A>T (p.Tyr758Phe) c.2327A>T (p.Tyr776Phe) c.1031A>T (p.Tyr344Phe) c.2033A>T (p.Tyr678Phe) c.1007A>T (p.Tyr336Phe) | |
| 9 | g.110800646C>A | CA374478929 | MUSK | c.2268C>A (p.Tyr756Ter) c.2010C>A (p.Tyr670Ter) c.2244C>A (p.Tyr748Ter) c.1980C>A (p.Tyr660Ter) c.2298C>A (p.Tyr766Ter) c.2274C>A (p.Tyr758Ter) c.2328C>A (p.Tyr776Ter) c.1032C>A (p.Tyr344Ter) c.2034C>A (p.Tyr678Ter) c.1008C>A (p.Tyr336Ter) | dbSNP gnomAD v4 |
| 9 | g.110800646C= | CA1872205696 | MUSK | c.2268C= (p.Tyr756=) c.2010C= (p.Tyr670=) c.2244C= (p.Tyr748=) c.1980C= (p.Tyr660=) c.2298C= (p.Tyr766=) c.2274C= (p.Tyr758=) c.2328C= (p.Tyr776=) c.1032C= (p.Tyr344=) c.2034C= (p.Tyr678=) c.1008C= (p.Tyr336=) | |
| 9 | g.110800646C>G | CA374478931 | MUSK | c.2268C>G (p.Tyr756Ter) c.2010C>G (p.Tyr670Ter) c.2244C>G (p.Tyr748Ter) c.1980C>G (p.Tyr660Ter) c.2298C>G (p.Tyr766Ter) c.2274C>G (p.Tyr758Ter) c.2328C>G (p.Tyr776Ter) c.1032C>G (p.Tyr344Ter) c.2034C>G (p.Tyr678Ter) c.1008C>G (p.Tyr336Ter) | |
| 9 | g.110800646C>T | CA466900957 | MUSK | c.2268C>T (p.Tyr756=) c.2010C>T (p.Tyr670=) c.2244C>T (p.Tyr748=) c.1980C>T (p.Tyr660=) c.2298C>T (p.Tyr766=) c.2274C>T (p.Tyr758=) c.2328C>T (p.Tyr776=) c.1032C>T (p.Tyr344=) c.2034C>T (p.Tyr678=) c.1008C>T (p.Tyr336=) | gnomAD v4 |
| 9 | g.110800647A= | CA1872205697 | MUSK | c.2269A= (p.Lys757=) c.2011A= (p.Lys671=) c.2245A= (p.Lys749=) c.1981A= (p.Lys661=) c.2299A= (p.Lys767=) c.2275A= (p.Lys759=) c.2329A= (p.Lys777=) c.1033A= (p.Lys345=) c.2035A= (p.Lys679=) c.1009A= (p.Lys337=) | |
| 9 | g.110800647A>C | CA374478935 | MUSK | c.2269A>C (p.Lys757Gln) c.2011A>C (p.Lys671Gln) c.2245A>C (p.Lys749Gln) c.1981A>C (p.Lys661Gln) c.2299A>C (p.Lys767Gln) c.2275A>C (p.Lys759Gln) c.2329A>C (p.Lys777Gln) c.1033A>C (p.Lys345Gln) c.2035A>C (p.Lys679Gln) c.1009A>C (p.Lys337Gln) | ClinVar |
| 9 | g.110800647A>G | CA374478940 | MUSK | c.2269A>G (p.Lys757Glu) c.2011A>G (p.Lys671Glu) c.2245A>G (p.Lys749Glu) c.1981A>G (p.Lys661Glu) c.2299A>G (p.Lys767Glu) c.2275A>G (p.Lys759Glu) c.2329A>G (p.Lys777Glu) c.1033A>G (p.Lys345Glu) c.2035A>G (p.Lys679Glu) c.1009A>G (p.Lys337Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.110800647A>T | CA374478938 | MUSK | c.2269A>T (p.Lys757Ter) c.2011A>T (p.Lys671Ter) c.2245A>T (p.Lys749Ter) c.1981A>T (p.Lys661Ter) c.2299A>T (p.Lys767Ter) c.2275A>T (p.Lys759Ter) c.2329A>T (p.Lys777Ter) c.1033A>T (p.Lys345Ter) c.2035A>T (p.Lys679Ter) c.1009A>T (p.Lys337Ter) | |
| 9 | g.110800648A= | CA1872205698 | MUSK | c.2270A= (p.Lys757=) c.2012A= (p.Lys671=) c.2246A= (p.Lys749=) c.1982A= (p.Lys661=) c.2300A= (p.Lys767=) c.2276A= (p.Lys759=) c.2330A= (p.Lys777=) c.1034A= (p.Lys345=) c.2036A= (p.Lys679=) c.1010A= (p.Lys337=) | |
| 9 | g.110800648A>C | CA5184597 | MUSK | c.2270A>C (p.Lys757Thr) c.2012A>C (p.Lys671Thr) c.2246A>C (p.Lys749Thr) c.1982A>C (p.Lys661Thr) c.2300A>C (p.Lys767Thr) c.2276A>C (p.Lys759Thr) c.2330A>C (p.Lys777Thr) c.1034A>C (p.Lys345Thr) c.2036A>C (p.Lys679Thr) c.1010A>C (p.Lys337Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.110800648A>G | CA374478947 | MUSK | c.2270A>G (p.Lys757Arg) c.2012A>G (p.Lys671Arg) c.2246A>G (p.Lys749Arg) c.1982A>G (p.Lys661Arg) c.2300A>G (p.Lys767Arg) c.2276A>G (p.Lys759Arg) c.2330A>G (p.Lys777Arg) c.1034A>G (p.Lys345Arg) c.2036A>G (p.Lys679Arg) c.1010A>G (p.Lys337Arg) | gnomAD v4 |
| 9 | g.110800648A>T | CA374478944 | MUSK | c.2270A>T (p.Lys757Ile) c.2012A>T (p.Lys671Ile) c.2246A>T (p.Lys749Ile) c.1982A>T (p.Lys661Ile) c.2300A>T (p.Lys767Ile) c.2276A>T (p.Lys759Ile) c.2330A>T (p.Lys777Ile) c.1034A>T (p.Lys345Ile) c.2036A>T (p.Lys679Ile) c.1010A>T (p.Lys337Ile) | |
| 9 | g.110800649A>C | CA374478950 | MUSK | c.2271A>C (p.Lys757Asn) c.2013A>C (p.Lys671Asn) c.2247A>C (p.Lys749Asn) c.1983A>C (p.Lys661Asn) c.2301A>C (p.Lys767Asn) c.2277A>C (p.Lys759Asn) c.2331A>C (p.Lys777Asn) c.1035A>C (p.Lys345Asn) c.2037A>C (p.Lys679Asn) c.1011A>C (p.Lys337Asn) | |
| 9 | g.110800649A>G | CA466900961 | MUSK | c.2271A>G (p.Lys757=) c.2013A>G (p.Lys671=) c.2247A>G (p.Lys749=) c.1983A>G (p.Lys661=) c.2301A>G (p.Lys767=) c.2277A>G (p.Lys759=) c.2331A>G (p.Lys777=) c.1035A>G (p.Lys345=) c.2037A>G (p.Lys679=) c.1011A>G (p.Lys337=) | |
| 9 | g.110800649A>T | CA374478953 | MUSK | c.2271A>T (p.Lys757Asn) c.2013A>T (p.Lys671Asn) c.2247A>T (p.Lys749Asn) c.1983A>T (p.Lys661Asn) c.2301A>T (p.Lys767Asn) c.2277A>T (p.Lys759Asn) c.2331A>T (p.Lys777Asn) c.1035A>T (p.Lys345Asn) c.2037A>T (p.Lys679Asn) c.1011A>T (p.Lys337Asn) | |
| 9 | g.110800650G>A | CA374478956 | MUSK | c.2272G>A (p.Ala758Thr) c.2014G>A (p.Ala672Thr) c.2248G>A (p.Ala750Thr) c.1984G>A (p.Ala662Thr) c.2302G>A (p.Ala768Thr) c.2278G>A (p.Ala760Thr) c.2332G>A (p.Ala778Thr) c.1036G>A (p.Ala346Thr) c.2038G>A (p.Ala680Thr) c.1012G>A (p.Ala338Thr) | dbSNP |
| 9 | g.110800650G>C | CA374478958 | MUSK | c.2272G>C (p.Ala758Pro) c.2014G>C (p.Ala672Pro) c.2248G>C (p.Ala750Pro) c.1984G>C (p.Ala662Pro) c.2302G>C (p.Ala768Pro) c.2278G>C (p.Ala760Pro) c.2332G>C (p.Ala778Pro) c.1036G>C (p.Ala346Pro) c.2038G>C (p.Ala680Pro) c.1012G>C (p.Ala338Pro) | |
| 9 | g.110800650G>T | CA374478961 | MUSK | c.2272G>T (p.Ala758Ser) c.2014G>T (p.Ala672Ser) c.2248G>T (p.Ala750Ser) c.1984G>T (p.Ala662Ser) c.2302G>T (p.Ala768Ser) c.2278G>T (p.Ala760Ser) c.2332G>T (p.Ala778Ser) c.1036G>T (p.Ala346Ser) c.2038G>T (p.Ala680Ser) c.1012G>T (p.Ala338Ser) | gnomAD v4 |
| 9 | g.110800651C>A | CA374478964 | MUSK | c.2273C>A (p.Ala758Asp) c.2015C>A (p.Ala672Asp) c.2249C>A (p.Ala750Asp) c.1985C>A (p.Ala662Asp) c.2303C>A (p.Ala768Asp) c.2279C>A (p.Ala760Asp) c.2333C>A (p.Ala778Asp) c.1037C>A (p.Ala346Asp) c.2039C>A (p.Ala680Asp) c.1013C>A (p.Ala338Asp) | dbSNP gnomAD v4 |
| 9 | g.110800651C= | CA1872205699 | MUSK | c.2273C= (p.Ala758=) c.2015C= (p.Ala672=) c.2249C= (p.Ala750=) c.1985C= (p.Ala662=) c.2303C= (p.Ala768=) c.2279C= (p.Ala760=) c.2333C= (p.Ala778=) c.1037C= (p.Ala346=) c.2039C= (p.Ala680=) c.1013C= (p.Ala338=) | |
| 9 | g.110800651C>G | CA374478966 | MUSK | c.2273C>G (p.Ala758Gly) c.2015C>G (p.Ala672Gly) c.2249C>G (p.Ala750Gly) c.1985C>G (p.Ala662Gly) c.2303C>G (p.Ala768Gly) c.2279C>G (p.Ala760Gly) c.2333C>G (p.Ala778Gly) c.1037C>G (p.Ala346Gly) c.2039C>G (p.Ala680Gly) c.1013C>G (p.Ala338Gly) | |
| 9 | g.110800651C>T | CA374478969 | MUSK | c.2273C>T (p.Ala758Val) c.2015C>T (p.Ala672Val) c.2249C>T (p.Ala750Val) c.1985C>T (p.Ala662Val) c.2303C>T (p.Ala768Val) c.2279C>T (p.Ala760Val) c.2333C>T (p.Ala778Val) c.1037C>T (p.Ala346Val) c.2039C>T (p.Ala680Val) c.1013C>T (p.Ala338Val) | |
| 9 | g.110800652T>A | CA466900963 | MUSK | c.2274T>A (p.Ala758=) c.2016T>A (p.Ala672=) c.2250T>A (p.Ala750=) c.1986T>A (p.Ala662=) c.2304T>A (p.Ala768=) c.2280T>A (p.Ala760=) c.2334T>A (p.Ala778=) c.1038T>A (p.Ala346=) c.2040T>A (p.Ala680=) c.1014T>A (p.Ala338=) | |
| 9 | g.110800652T>C | CA466900965 | MUSK | c.2274T>C (p.Ala758=) c.2016T>C (p.Ala672=) c.2250T>C (p.Ala750=) c.1986T>C (p.Ala662=) c.2304T>C (p.Ala768=) c.2280T>C (p.Ala760=) c.2334T>C (p.Ala778=) c.1038T>C (p.Ala346=) c.2040T>C (p.Ala680=) c.1014T>C (p.Ala338=) | |
| 9 | g.110800652T>G | CA466900964 | MUSK | c.2274T>G (p.Ala758=) c.2016T>G (p.Ala672=) c.2250T>G (p.Ala750=) c.1986T>G (p.Ala662=) c.2304T>G (p.Ala768=) c.2280T>G (p.Ala760=) c.2334T>G (p.Ala778=) c.1038T>G (p.Ala346=) c.2040T>G (p.Ala680=) c.1014T>G (p.Ala338=) | ClinVar gnomAD v3 gnomAD v4 |
| 9 | g.110800653A>C | CA374478972 | MUSK | c.2275A>C (p.Asn759His) c.2017A>C (p.Asn673His) c.2251A>C (p.Asn751His) c.1987A>C (p.Asn663His) c.2305A>C (p.Asn769His) c.2281A>C (p.Asn761His) c.2335A>C (p.Asn779His) c.1039A>C (p.Asn347His) c.2041A>C (p.Asn681His) c.1015A>C (p.Asn339His) | |
| 9 | g.110800653A>G | CA374478976 | MUSK | c.2275A>G (p.Asn759Asp) c.2017A>G (p.Asn673Asp) c.2251A>G (p.Asn751Asp) c.1987A>G (p.Asn663Asp) c.2305A>G (p.Asn769Asp) c.2281A>G (p.Asn761Asp) c.2335A>G (p.Asn779Asp) c.1039A>G (p.Asn347Asp) c.2041A>G (p.Asn681Asp) c.1015A>G (p.Asn339Asp) | |
| 9 | g.110800653A>T | CA374478977 | MUSK | c.2275A>T (p.Asn759Tyr) c.2017A>T (p.Asn673Tyr) c.2251A>T (p.Asn751Tyr) c.1987A>T (p.Asn663Tyr) c.2305A>T (p.Asn769Tyr) c.2281A>T (p.Asn761Tyr) c.2335A>T (p.Asn779Tyr) c.1039A>T (p.Asn347Tyr) c.2041A>T (p.Asn681Tyr) c.1015A>T (p.Asn339Tyr) | |
| 9 | g.110800654A>C | CA374478982 | MUSK | c.2276A>C (p.Asn759Thr) c.2018A>C (p.Asn673Thr) c.2252A>C (p.Asn751Thr) c.1988A>C (p.Asn663Thr) c.2306A>C (p.Asn769Thr) c.2282A>C (p.Asn761Thr) c.2336A>C (p.Asn779Thr) c.1040A>C (p.Asn347Thr) c.2042A>C (p.Asn681Thr) c.1016A>C (p.Asn339Thr) | |
| 9 | g.110800654A>G | CA374478980 | MUSK | c.2276A>G (p.Asn759Ser) c.2018A>G (p.Asn673Ser) c.2252A>G (p.Asn751Ser) c.1988A>G (p.Asn663Ser) c.2306A>G (p.Asn769Ser) c.2282A>G (p.Asn761Ser) c.2336A>G (p.Asn779Ser) c.1040A>G (p.Asn347Ser) c.2042A>G (p.Asn681Ser) c.1016A>G (p.Asn339Ser) | |
| 9 | g.110800654A>T | CA374478981 | MUSK | c.2276A>T (p.Asn759Ile) c.2018A>T (p.Asn673Ile) c.2252A>T (p.Asn751Ile) c.1988A>T (p.Asn663Ile) c.2306A>T (p.Asn769Ile) c.2282A>T (p.Asn761Ile) c.2336A>T (p.Asn779Ile) c.1040A>T (p.Asn347Ile) c.2042A>T (p.Asn681Ile) c.1016A>T (p.Asn339Ile) | |
| 9 | g.110800655T>A | CA374478983 | MUSK | c.2277T>A (p.Asn759Lys) c.2019T>A (p.Asn673Lys) c.2253T>A (p.Asn751Lys) c.1989T>A (p.Asn663Lys) c.2307T>A (p.Asn769Lys) c.2283T>A (p.Asn761Lys) c.2337T>A (p.Asn779Lys) c.1041T>A (p.Asn347Lys) c.2043T>A (p.Asn681Lys) c.1017T>A (p.Asn339Lys) | |
| 9 | g.110800655T>C | CA466900967 | MUSK | c.2277T>C (p.Asn759=) c.2019T>C (p.Asn673=) c.2253T>C (p.Asn751=) c.1989T>C (p.Asn663=) c.2307T>C (p.Asn769=) c.2283T>C (p.Asn761=) c.2337T>C (p.Asn779=) c.1041T>C (p.Asn347=) c.2043T>C (p.Asn681=) c.1017T>C (p.Asn339=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.110800655T>G | CA374478985 | MUSK | c.2277T>G (p.Asn759Lys) c.2019T>G (p.Asn673Lys) c.2253T>G (p.Asn751Lys) c.1989T>G (p.Asn663Lys) c.2307T>G (p.Asn769Lys) c.2283T>G (p.Asn761Lys) c.2337T>G (p.Asn779Lys) c.1041T>G (p.Asn347Lys) c.2043T>G (p.Asn681Lys) c.1017T>G (p.Asn339Lys) | |
| 9 | g.110800656G>A | CA374478987 | MUSK | c.2278G>A (p.Glu760Lys) c.2020G>A (p.Glu674Lys) c.2254G>A (p.Glu752Lys) c.1990G>A (p.Glu664Lys) c.2308G>A (p.Glu770Lys) c.2284G>A (p.Glu762Lys) c.2338G>A (p.Glu780Lys) c.1042G>A (p.Glu348Lys) c.2044G>A (p.Glu682Lys) c.1018G>A (p.Glu340Lys) | COSMIC COSMIC |
| 9 | g.110800656G>C | CA374478988 | MUSK | c.2278G>C (p.Glu760Gln) c.2020G>C (p.Glu674Gln) c.2254G>C (p.Glu752Gln) c.1990G>C (p.Glu664Gln) c.2308G>C (p.Glu770Gln) c.2284G>C (p.Glu762Gln) c.2338G>C (p.Glu780Gln) c.1042G>C (p.Glu348Gln) c.2044G>C (p.Glu682Gln) c.1018G>C (p.Glu340Gln) | gnomAD v4 |
| 9 | g.110800656G>T | CA374478990 | MUSK | c.2278G>T (p.Glu760Ter) c.2020G>T (p.Glu674Ter) c.2254G>T (p.Glu752Ter) c.1990G>T (p.Glu664Ter) c.2308G>T (p.Glu770Ter) c.2284G>T (p.Glu762Ter) c.2338G>T (p.Glu780Ter) c.1042G>T (p.Glu348Ter) c.2044G>T (p.Glu682Ter) c.1018G>T (p.Glu340Ter) | gnomAD v4 |
| 9 | g.110800657A>C | CA374478991 | MUSK | c.2279A>C (p.Glu760Ala) c.2021A>C (p.Glu674Ala) c.2255A>C (p.Glu752Ala) c.1991A>C (p.Glu664Ala) c.2309A>C (p.Glu770Ala) c.2285A>C (p.Glu762Ala) c.2339A>C (p.Glu780Ala) c.1043A>C (p.Glu348Ala) c.2045A>C (p.Glu682Ala) c.1019A>C (p.Glu340Ala) |