Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71602794A=CA1260120215DYSFc.1318A= (p.Ile440=)
c.535A= (p.Ile179=)
c.3892A= (p.Ile1298=)
c.3946A= (p.Ile1316=)
c.3895A= (p.Ile1299=)
c.3943A= (p.Ile1315=)
c.3988A= (p.Ile1330=)
c.3853A= (p.Ile1285=)
c.3985A= (p.Ile1329=)
n.276A=
n.777A=
n.111A=
n.252A=
c.3850A= (p.Ile1284=)
n.4146A=
2g.71602794A>CCA347226646DYSFc.1318A>C (p.Ile440Leu)
c.535A>C (p.Ile179Leu)
c.3892A>C (p.Ile1298Leu)
c.3946A>C (p.Ile1316Leu)
c.3895A>C (p.Ile1299Leu)
c.3943A>C (p.Ile1315Leu)
c.3988A>C (p.Ile1330Leu)
c.3853A>C (p.Ile1285Leu)
c.3985A>C (p.Ile1329Leu)
n.276A>C
n.777A>C
n.111A>C
n.252A>C
c.3850A>C (p.Ile1284Leu)
n.4146A>C
2g.71602794A>GCA179991DYSFc.1318A>G (p.Ile440Val)
c.535A>G (p.Ile179Val)
c.3892A>G (p.Ile1298Val)
c.3946A>G (p.Ile1316Val)
c.3895A>G (p.Ile1299Val)
c.3943A>G (p.Ile1315Val)
c.3988A>G (p.Ile1330Val)
c.3853A>G (p.Ile1285Val)
c.3985A>G (p.Ile1329Val)
n.276A>G
n.777A>G
n.111A>G
n.252A>G
c.3850A>G (p.Ile1284Val)
n.4146A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71602794A>TCA347226649DYSFc.1318A>T (p.Ile440Phe)
c.535A>T (p.Ile179Phe)
c.3892A>T (p.Ile1298Phe)
c.3946A>T (p.Ile1316Phe)
c.3895A>T (p.Ile1299Phe)
c.3943A>T (p.Ile1315Phe)
c.3988A>T (p.Ile1330Phe)
c.3853A>T (p.Ile1285Phe)
c.3985A>T (p.Ile1329Phe)
n.276A>T
n.777A>T
n.111A>T
n.252A>T
c.3850A>T (p.Ile1284Phe)
n.4146A>T
 dbSNP gnomAD v3 gnomAD v4
2g.71602795T>ACA347226650DYSFc.1319T>A (p.Ile440Asn)
c.536T>A (p.Ile179Asn)
c.3893T>A (p.Ile1298Asn)
c.3947T>A (p.Ile1316Asn)
c.3896T>A (p.Ile1299Asn)
c.3944T>A (p.Ile1315Asn)
c.3989T>A (p.Ile1330Asn)
c.3854T>A (p.Ile1285Asn)
c.3986T>A (p.Ile1329Asn)
n.277T>A
n.778T>A
n.112T>A
n.253T>A
c.3851T>A (p.Ile1284Asn)
n.4147T>A
2g.71602795T>CCA347226652DYSFc.1319T>C (p.Ile440Thr)
c.536T>C (p.Ile179Thr)
c.3893T>C (p.Ile1298Thr)
c.3947T>C (p.Ile1316Thr)
c.3896T>C (p.Ile1299Thr)
c.3944T>C (p.Ile1315Thr)
c.3989T>C (p.Ile1330Thr)
c.3854T>C (p.Ile1285Thr)
c.3986T>C (p.Ile1329Thr)
n.277T>C
n.778T>C
n.112T>C
n.253T>C
c.3851T>C (p.Ile1284Thr)
n.4147T>C
 gnomAD v4
2g.71602795T>GCA347226654DYSFc.1319T>G (p.Ile440Ser)
c.536T>G (p.Ile179Ser)
c.3893T>G (p.Ile1298Ser)
c.3947T>G (p.Ile1316Ser)
c.3896T>G (p.Ile1299Ser)
c.3944T>G (p.Ile1315Ser)
c.3989T>G (p.Ile1330Ser)
c.3854T>G (p.Ile1285Ser)
c.3986T>G (p.Ile1329Ser)
n.277T>G
n.778T>G
n.112T>G
n.253T>G
c.3851T>G (p.Ile1284Ser)
n.4147T>G
2g.71602796C>ACA426702578DYSFc.1320C>A (p.Ile440=)
c.537C>A (p.Ile179=)
c.3894C>A (p.Ile1298=)
c.3948C>A (p.Ile1316=)
c.3897C>A (p.Ile1299=)
c.3945C>A (p.Ile1315=)
c.3990C>A (p.Ile1330=)
c.3855C>A (p.Ile1285=)
c.3987C>A (p.Ile1329=)
n.278C>A
n.779C>A
n.113C>A
n.254C>A
c.3852C>A (p.Ile1284=)
n.4148C>A
 gnomAD v4
2g.71602796C=CA1260120216DYSFc.1320C= (p.Ile440=)
c.537C= (p.Ile179=)
c.3894C= (p.Ile1298=)
c.3948C= (p.Ile1316=)
c.3897C= (p.Ile1299=)
c.3945C= (p.Ile1315=)
c.3990C= (p.Ile1330=)
c.3855C= (p.Ile1285=)
c.3987C= (p.Ile1329=)
n.278C=
n.779C=
n.113C=
n.254C=
c.3852C= (p.Ile1284=)
n.4148C=
2g.71602796C>GCA347226655DYSFc.1320C>G (p.Ile440Met)
c.537C>G (p.Ile179Met)
c.3894C>G (p.Ile1298Met)
c.3948C>G (p.Ile1316Met)
c.3897C>G (p.Ile1299Met)
c.3945C>G (p.Ile1315Met)
c.3990C>G (p.Ile1330Met)
c.3855C>G (p.Ile1285Met)
c.3987C>G (p.Ile1329Met)
n.278C>G
n.779C>G
n.113C>G
n.254C>G
c.3852C>G (p.Ile1284Met)
n.4148C>G
2g.71602796C>TCA426702579DYSFc.1320C>T (p.Ile440=)
c.537C>T (p.Ile179=)
c.3894C>T (p.Ile1298=)
c.3948C>T (p.Ile1316=)
c.3897C>T (p.Ile1299=)
c.3945C>T (p.Ile1315=)
c.3990C>T (p.Ile1330=)
c.3855C>T (p.Ile1285=)
c.3987C>T (p.Ile1329=)
n.278C>T
n.779C>T
n.113C>T
n.254C>T
c.3852C>T (p.Ile1284=)
n.4148C>T
 ClinVar dbSNP COSMIC COSMIC
2g.71602797C>ACA347226657DYSFc.1321C>A (p.Leu441Met)
c.538C>A (p.Leu180Met)
c.3895C>A (p.Leu1299Met)
c.3949C>A (p.Leu1317Met)
c.3898C>A (p.Leu1300Met)
c.3946C>A (p.Leu1316Met)
c.3991C>A (p.Leu1331Met)
c.3856C>A (p.Leu1286Met)
c.3988C>A (p.Leu1330Met)
n.279C>A
n.780C>A
n.114C>A
n.255C>A
c.3853C>A (p.Leu1285Met)
n.4149C>A
2g.71602797C=CA1260120217DYSFc.1321C= (p.Leu441=)
c.538C= (p.Leu180=)
c.3895C= (p.Leu1299=)
c.3949C= (p.Leu1317=)
c.3898C= (p.Leu1300=)
c.3946C= (p.Leu1316=)
c.3991C= (p.Leu1331=)
c.3856C= (p.Leu1286=)
c.3988C= (p.Leu1330=)
n.279C=
n.780C=
n.114C=
n.255C=
c.3853C= (p.Leu1285=)
n.4149C=
2g.71602797C>GCA347226659DYSFc.1321C>G (p.Leu441Val)
c.538C>G (p.Leu180Val)
c.3895C>G (p.Leu1299Val)
c.3949C>G (p.Leu1317Val)
c.3898C>G (p.Leu1300Val)
c.3946C>G (p.Leu1316Val)
c.3991C>G (p.Leu1331Val)
c.3856C>G (p.Leu1286Val)
c.3988C>G (p.Leu1330Val)
n.279C>G
n.780C>G
n.114C>G
n.255C>G
c.3853C>G (p.Leu1285Val)
n.4149C>G
2g.71602797C>TCA426702580DYSFc.1321C>T (p.Leu441=)
c.538C>T (p.Leu180=)
c.3895C>T (p.Leu1299=)
c.3949C>T (p.Leu1317=)
c.3898C>T (p.Leu1300=)
c.3946C>T (p.Leu1316=)
c.3991C>T (p.Leu1331=)
c.3856C>T (p.Leu1286=)
c.3988C>T (p.Leu1330=)
n.279C>T
n.780C>T
n.114C>T
n.255C>T
c.3853C>T (p.Leu1285=)
n.4149C>T
 dbSNP gnomAD v4
2g.71602798T>ACA347226661DYSFc.1322T>A (p.Leu441Gln)
c.539T>A (p.Leu180Gln)
c.3896T>A (p.Leu1299Gln)
c.3950T>A (p.Leu1317Gln)
c.3899T>A (p.Leu1300Gln)
c.3947T>A (p.Leu1316Gln)
c.3992T>A (p.Leu1331Gln)
c.3857T>A (p.Leu1286Gln)
c.3989T>A (p.Leu1330Gln)
n.280T>A
n.781T>A
n.115T>A
n.256T>A
c.3854T>A (p.Leu1285Gln)
n.4150T>A
2g.71602798T>CCA347226663DYSFc.1322T>C (p.Leu441Pro)
c.539T>C (p.Leu180Pro)
c.3896T>C (p.Leu1299Pro)
c.3950T>C (p.Leu1317Pro)
c.3899T>C (p.Leu1300Pro)
c.3947T>C (p.Leu1316Pro)
c.3992T>C (p.Leu1331Pro)
c.3857T>C (p.Leu1286Pro)
c.3989T>C (p.Leu1330Pro)
n.280T>C
n.781T>C
n.115T>C
n.256T>C
c.3854T>C (p.Leu1285Pro)
n.4150T>C
2g.71602798T>GCA347226662DYSFc.1322T>G (p.Leu441Arg)
c.539T>G (p.Leu180Arg)
c.3896T>G (p.Leu1299Arg)
c.3950T>G (p.Leu1317Arg)
c.3899T>G (p.Leu1300Arg)
c.3947T>G (p.Leu1316Arg)
c.3992T>G (p.Leu1331Arg)
c.3857T>G (p.Leu1286Arg)
c.3989T>G (p.Leu1330Arg)
n.280T>G
n.781T>G
n.115T>G
n.256T>G
c.3854T>G (p.Leu1285Arg)
n.4150T>G
2g.71602799G>ACA426702581DYSFc.1323G>A (p.Leu441=)
c.540G>A (p.Leu180=)
c.3897G>A (p.Leu1299=)
c.3951G>A (p.Leu1317=)
c.3900G>A (p.Leu1300=)
c.3948G>A (p.Leu1316=)
c.3993G>A (p.Leu1331=)
c.3858G>A (p.Leu1286=)
c.3990G>A (p.Leu1330=)
n.281G>A
n.782G>A
n.116G>A
n.257G>A
c.3855G>A (p.Leu1285=)
n.4151G>A
2g.71602799G>CCA426702582DYSFc.1323G>C (p.Leu441=)
c.540G>C (p.Leu180=)
c.3897G>C (p.Leu1299=)
c.3951G>C (p.Leu1317=)
c.3900G>C (p.Leu1300=)
c.3948G>C (p.Leu1316=)
c.3993G>C (p.Leu1331=)
c.3858G>C (p.Leu1286=)
c.3990G>C (p.Leu1330=)
n.281G>C
n.782G>C
n.116G>C
n.257G>C
c.3855G>C (p.Leu1285=)
n.4151G>C
2g.71602799G>TCA426702583DYSFc.1323G>T (p.Leu441=)
c.540G>T (p.Leu180=)
c.3897G>T (p.Leu1299=)
c.3951G>T (p.Leu1317=)
c.3900G>T (p.Leu1300=)
c.3948G>T (p.Leu1316=)
c.3993G>T (p.Leu1331=)
c.3858G>T (p.Leu1286=)
c.3990G>T (p.Leu1330=)
n.281G>T
n.782G>T
n.116G>T
n.257G>T
c.3855G>T (p.Leu1285=)
n.4151G>T
2g.71602800G>ACA1706804DYSFc.1324G>A (p.Asp442Asn)
c.541G>A (p.Asp181Asn)
c.3898G>A (p.Asp1300Asn)
c.3952G>A (p.Asp1318Asn)
c.3901G>A (p.Asp1301Asn)
c.3949G>A (p.Asp1317Asn)
c.3994G>A (p.Asp1332Asn)
c.3859G>A (p.Asp1287Asn)
c.3991G>A (p.Asp1331Asn)
n.282G>A
n.783G>A
n.117G>A
n.258G>A
c.3856G>A (p.Asp1286Asn)
n.4152G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71602800G>CCA347226664DYSFc.1324G>C (p.Asp442His)
c.541G>C (p.Asp181His)
c.3898G>C (p.Asp1300His)
c.3952G>C (p.Asp1318His)
c.3901G>C (p.Asp1301His)
c.3949G>C (p.Asp1317His)
c.3994G>C (p.Asp1332His)
c.3859G>C (p.Asp1287His)
c.3991G>C (p.Asp1331His)
n.282G>C
n.783G>C
n.117G>C
n.258G>C
c.3856G>C (p.Asp1286His)
n.4152G>C
2g.71602800G=CA1260120218DYSFc.1324G= (p.Asp442=)
c.541G= (p.Asp181=)
c.3898G= (p.Asp1300=)
c.3952G= (p.Asp1318=)
c.3901G= (p.Asp1301=)
c.3949G= (p.Asp1317=)
c.3994G= (p.Asp1332=)
c.3859G= (p.Asp1287=)
c.3991G= (p.Asp1331=)
n.282G=
n.783G=
n.117G=
n.258G=
c.3856G= (p.Asp1286=)
n.4152G=
2g.71602800G>TCA347226665DYSFc.1324G>T (p.Asp442Tyr)
c.541G>T (p.Asp181Tyr)
c.3898G>T (p.Asp1300Tyr)
c.3952G>T (p.Asp1318Tyr)
c.3901G>T (p.Asp1301Tyr)
c.3949G>T (p.Asp1317Tyr)
c.3994G>T (p.Asp1332Tyr)
c.3859G>T (p.Asp1287Tyr)
c.3991G>T (p.Asp1331Tyr)
n.282G>T
n.783G>T
n.117G>T
n.258G>T
c.3856G>T (p.Asp1286Tyr)
n.4152G>T
2g.71602801A=CA1260120219DYSFc.1325A= (p.Asp442=)
c.542A= (p.Asp181=)
c.3899A= (p.Asp1300=)
c.3953A= (p.Asp1318=)
c.3902A= (p.Asp1301=)
c.3950A= (p.Asp1317=)
c.3995A= (p.Asp1332=)
c.3860A= (p.Asp1287=)
c.3992A= (p.Asp1331=)
n.283A=
n.784A=
n.118A=
n.259A=
c.3857A= (p.Asp1286=)
n.4153A=
2g.71602801A>CCA347226666DYSFc.1325A>C (p.Asp442Ala)
c.542A>C (p.Asp181Ala)
c.3899A>C (p.Asp1300Ala)
c.3953A>C (p.Asp1318Ala)
c.3902A>C (p.Asp1301Ala)
c.3950A>C (p.Asp1317Ala)
c.3995A>C (p.Asp1332Ala)
c.3860A>C (p.Asp1287Ala)
c.3992A>C (p.Asp1331Ala)
n.283A>C
n.784A>C
n.118A>C
n.259A>C
c.3857A>C (p.Asp1286Ala)
n.4153A>C
2g.71602801A>GCA347226667DYSFc.1325A>G (p.Asp442Gly)
c.542A>G (p.Asp181Gly)
c.3899A>G (p.Asp1300Gly)
c.3953A>G (p.Asp1318Gly)
c.3902A>G (p.Asp1301Gly)
c.3950A>G (p.Asp1317Gly)
c.3995A>G (p.Asp1332Gly)
c.3860A>G (p.Asp1287Gly)
c.3992A>G (p.Asp1331Gly)
n.283A>G
n.784A>G
n.118A>G
n.259A>G
c.3857A>G (p.Asp1286Gly)
n.4153A>G
 dbSNP gnomAD v3 gnomAD v4
2g.71602801A>TCA347226668DYSFc.1325A>T (p.Asp442Val)
c.542A>T (p.Asp181Val)
c.3899A>T (p.Asp1300Val)
c.3953A>T (p.Asp1318Val)
c.3902A>T (p.Asp1301Val)
c.3950A>T (p.Asp1317Val)
c.3995A>T (p.Asp1332Val)
c.3860A>T (p.Asp1287Val)
c.3992A>T (p.Asp1331Val)
n.283A>T
n.784A>T
n.118A>T
n.259A>T
c.3857A>T (p.Asp1286Val)
n.4153A>T
2g.71602802T>ACA49772836DYSFc.1326T>A (p.Asp442Glu)
c.543T>A (p.Asp181Glu)
c.3900T>A (p.Asp1300Glu)
c.3954T>A (p.Asp1318Glu)
c.3903T>A (p.Asp1301Glu)
c.3951T>A (p.Asp1317Glu)
c.3996T>A (p.Asp1332Glu)
c.3861T>A (p.Asp1287Glu)
c.3993T>A (p.Asp1331Glu)
n.284T>A
n.785T>A
n.119T>A
n.260T>A
c.3858T>A (p.Asp1286Glu)
n.4154T>A
 dbSNP gnomAD v4
2g.71602802T>CCA426702584DYSFc.1326T>C (p.Asp442=)
c.543T>C (p.Asp181=)
c.3900T>C (p.Asp1300=)
c.3954T>C (p.Asp1318=)
c.3903T>C (p.Asp1301=)
c.3951T>C (p.Asp1317=)
c.3996T>C (p.Asp1332=)
c.3861T>C (p.Asp1287=)
c.3993T>C (p.Asp1331=)
n.284T>C
n.785T>C
n.119T>C
n.260T>C
c.3858T>C (p.Asp1286=)
n.4154T>C
 gnomAD v4
2g.71602802T>GCA347226669DYSFc.1326T>G (p.Asp442Glu)
c.543T>G (p.Asp181Glu)
c.3900T>G (p.Asp1300Glu)
c.3954T>G (p.Asp1318Glu)
c.3903T>G (p.Asp1301Glu)
c.3951T>G (p.Asp1317Glu)
c.3996T>G (p.Asp1332Glu)
c.3861T>G (p.Asp1287Glu)
c.3993T>G (p.Asp1331Glu)
n.284T>G
n.785T>G
n.119T>G
n.260T>G
c.3858T>G (p.Asp1286Glu)
n.4154T>G
 gnomAD v4
2g.71602802T=CA1260120220DYSFc.1326T= (p.Asp442=)
c.543T= (p.Asp181=)
c.3900T= (p.Asp1300=)
c.3954T= (p.Asp1318=)
c.3903T= (p.Asp1301=)
c.3951T= (p.Asp1317=)
c.3996T= (p.Asp1332=)
c.3861T= (p.Asp1287=)
c.3993T= (p.Asp1331=)
n.284T=
n.785T=
n.119T=
n.260T=
c.3858T= (p.Asp1286=)
n.4154T=
2g.71602803G>ACA347226670DYSFc.1327G>A (p.Glu443Lys)
c.544G>A (p.Glu182Lys)
c.3901G>A (p.Glu1301Lys)
c.3955G>A (p.Glu1319Lys)
c.3904G>A (p.Glu1302Lys)
c.3952G>A (p.Glu1318Lys)
c.3997G>A (p.Glu1333Lys)
c.3862G>A (p.Glu1288Lys)
c.3994G>A (p.Glu1332Lys)
n.285G>A
n.786G>A
n.120G>A
n.261G>A
c.3859G>A (p.Glu1287Lys)
n.4155G>A
2g.71602803G>CCA347226671DYSFc.1327G>C (p.Glu443Gln)
c.544G>C (p.Glu182Gln)
c.3901G>C (p.Glu1301Gln)
c.3955G>C (p.Glu1319Gln)
c.3904G>C (p.Glu1302Gln)
c.3952G>C (p.Glu1318Gln)
c.3997G>C (p.Glu1333Gln)
c.3862G>C (p.Glu1288Gln)
c.3994G>C (p.Glu1332Gln)
n.285G>C
n.786G>C
n.120G>C
n.261G>C
c.3859G>C (p.Glu1287Gln)
n.4155G>C
2g.71602803G>TCA347226672DYSFc.1327G>T (p.Glu443Ter)
c.544G>T (p.Glu182Ter)
c.3901G>T (p.Glu1301Ter)
c.3955G>T (p.Glu1319Ter)
c.3904G>T (p.Glu1302Ter)
c.3952G>T (p.Glu1318Ter)
c.3997G>T (p.Glu1333Ter)
c.3862G>T (p.Glu1288Ter)
c.3994G>T (p.Glu1332Ter)
n.285G>T
n.786G>T
n.120G>T
n.261G>T
c.3859G>T (p.Glu1287Ter)
n.4155G>T
2g.71602804A>CCA347226675DYSFc.1328A>C (p.Glu443Ala)
c.545A>C (p.Glu182Ala)
c.3902A>C (p.Glu1301Ala)
c.3956A>C (p.Glu1319Ala)
c.3905A>C (p.Glu1302Ala)
c.3953A>C (p.Glu1318Ala)
c.3998A>C (p.Glu1333Ala)
c.3863A>C (p.Glu1288Ala)
c.3995A>C (p.Glu1332Ala)
n.286A>C
n.787A>C
n.121A>C
n.262A>C
c.3860A>C (p.Glu1287Ala)
n.4156A>C
2g.71602804A>GCA347226674DYSFc.1328A>G (p.Glu443Gly)
c.545A>G (p.Glu182Gly)
c.3902A>G (p.Glu1301Gly)
c.3956A>G (p.Glu1319Gly)
c.3905A>G (p.Glu1302Gly)
c.3953A>G (p.Glu1318Gly)
c.3998A>G (p.Glu1333Gly)
c.3863A>G (p.Glu1288Gly)
c.3995A>G (p.Glu1332Gly)
n.286A>G
n.787A>G
n.121A>G
n.262A>G
c.3860A>G (p.Glu1287Gly)
n.4156A>G
2g.71602804A>TCA347226673DYSFc.1328A>T (p.Glu443Val)
c.545A>T (p.Glu182Val)
c.3902A>T (p.Glu1301Val)
c.3956A>T (p.Glu1319Val)
c.3905A>T (p.Glu1302Val)
c.3953A>T (p.Glu1318Val)
c.3998A>T (p.Glu1333Val)
c.3863A>T (p.Glu1288Val)
c.3995A>T (p.Glu1332Val)
n.286A>T
n.787A>T
n.121A>T
n.262A>T
c.3860A>T (p.Glu1287Val)
n.4156A>T
2g.71602804_71602805delinsAGCA1260120221DYSFc.1328_1329delinsAG (p.Glu443=)
c.545_546delinsAG (p.Glu182=)
c.3902_3903delinsAG (p.Glu1301=)
c.3956_3957delinsAG (p.Glu1319=)
c.3905_3906delinsAG (p.Glu1302=)
c.3953_3954delinsAG (p.Glu1318=)
c.3998_3999delinsAG (p.Glu1333=)
c.3863_3864delinsAG (p.Glu1288=)
c.3995_3996delinsAG (p.Glu1332=)
n.286_287delinsAG
n.787_788delinsAG
n.121_122delinsAG
n.262_263delinsAG
c.3860_3861delinsAG (p.Glu1287=)
n.4156_4157delinsAG
2g.71602805G>ACA1706806DYSFc.1329G>A (p.Glu443=)
c.546G>A (p.Glu182=)
c.3903G>A (p.Glu1301=)
c.3957G>A (p.Glu1319=)
c.3906G>A (p.Glu1302=)
c.3954G>A (p.Glu1318=)
c.3999G>A (p.Glu1333=)
c.3864G>A (p.Glu1288=)
c.3996G>A (p.Glu1332=)
n.287G>A
n.788G>A
n.122G>A
n.263G>A
c.3861G>A (p.Glu1287=)
n.4157G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.71602805G>CCA1706807DYSFc.1329G>C (p.Glu443Asp)
c.546G>C (p.Glu182Asp)
c.3903G>C (p.Glu1301Asp)
c.3957G>C (p.Glu1319Asp)
c.3906G>C (p.Glu1302Asp)
c.3954G>C (p.Glu1318Asp)
c.3999G>C (p.Glu1333Asp)
c.3864G>C (p.Glu1288Asp)
c.3996G>C (p.Glu1332Asp)
n.287G>C
n.788G>C
n.122G>C
n.263G>C
c.3861G>C (p.Glu1287Asp)
n.4157G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71602805G=CA1260120222DYSFc.1329G= (p.Glu443=)
c.546G= (p.Glu182=)
c.3903G= (p.Glu1301=)
c.3957G= (p.Glu1319=)
c.3906G= (p.Glu1302=)
c.3954G= (p.Glu1318=)
c.3999G= (p.Glu1333=)
c.3864G= (p.Glu1288=)
c.3996G= (p.Glu1332=)
n.287G=
n.788G=
n.122G=
n.263G=
c.3861G= (p.Glu1287=)
n.4157G=
2g.71602805G>TCA347226676DYSFc.1329G>T (p.Glu443Asp)
c.546G>T (p.Glu182Asp)
c.3903G>T (p.Glu1301Asp)
c.3957G>T (p.Glu1319Asp)
c.3906G>T (p.Glu1302Asp)
c.3954G>T (p.Glu1318Asp)
c.3999G>T (p.Glu1333Asp)
c.3864G>T (p.Glu1288Asp)
c.3996G>T (p.Glu1332Asp)
n.287G>T
n.788G>T
n.122G>T
n.263G>T
c.3861G>T (p.Glu1287Asp)
n.4157G>T
2g.71602806delCA1706805DYSFc.1329+1del
c.546+1del
c.3903+1del
c.3957+1del
c.3906+1del
c.3954+1del
c.3999+1del
c.3864+1del
c.3996+1del
n.287+1del
n.788+1del
n.122+1del
n.263+1del
c.3861+1del
n.4157+1del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71602806G>ACA347226677DYSFc.1329+1G>A (n.1329+1G>A)
c.546+1G>A (n.546+1G>A)
c.3903+1G>A (n.3903+1G>A)
c.3957+1G>A (n.3957+1G>A)
c.3906+1G>A (n.3906+1G>A)
c.3954+1G>A (n.3954+1G>A)
c.3999+1G>A (n.3999+1G>A)
c.3864+1G>A (n.3864+1G>A)
c.3996+1G>A (n.3996+1G>A)
n.287+1G>A
n.788+1G>A
n.122+1G>A
n.263+1G>A
c.3861+1G>A (n.3861+1G>A)
n.4157+1G>A
 ClinVar
2g.71602806G>CCA347226678DYSFc.1329+1G>C (n.1329+1G>C)
c.546+1G>C (n.546+1G>C)
c.3903+1G>C (n.3903+1G>C)
c.3957+1G>C (n.3957+1G>C)
c.3906+1G>C (n.3906+1G>C)
c.3954+1G>C (n.3954+1G>C)
c.3999+1G>C (n.3999+1G>C)
c.3864+1G>C (n.3864+1G>C)
c.3996+1G>C (n.3996+1G>C)
n.287+1G>C
n.788+1G>C
n.122+1G>C
n.263+1G>C
c.3861+1G>C (n.3861+1G>C)
n.4157+1G>C
2g.71602806G>TCA347226679DYSFc.1329+1G>T (n.1329+1G>T)
c.546+1G>T (n.546+1G>T)
c.3903+1G>T (n.3903+1G>T)
c.3957+1G>T (n.3957+1G>T)
c.3906+1G>T (n.3906+1G>T)
c.3954+1G>T (n.3954+1G>T)
c.3999+1G>T (n.3999+1G>T)
c.3864+1G>T (n.3864+1G>T)
c.3996+1G>T (n.3996+1G>T)
n.287+1G>T
n.788+1G>T
n.122+1G>T
n.263+1G>T
c.3861+1G>T (n.3861+1G>T)
n.4157+1G>T
2g.71602807T>ACA347226680DYSFc.1329+2T>A (n.1329+2T>A)
c.546+2T>A (n.546+2T>A)
c.3903+2T>A (n.3903+2T>A)
c.3957+2T>A (n.3957+2T>A)
c.3906+2T>A (n.3906+2T>A)
c.3954+2T>A (n.3954+2T>A)
c.3999+2T>A (n.3999+2T>A)
c.3864+2T>A (n.3864+2T>A)
c.3996+2T>A (n.3996+2T>A)
n.287+2T>A
n.788+2T>A
n.122+2T>A
n.263+2T>A
c.3861+2T>A (n.3861+2T>A)
n.4157+2T>A
 ClinVar dbSNP
2g.71602807T>CCA347226681DYSFc.1329+2T>C (n.1329+2T>C)
c.546+2T>C (n.546+2T>C)
c.3903+2T>C (n.3903+2T>C)
c.3957+2T>C (n.3957+2T>C)
c.3906+2T>C (n.3906+2T>C)
c.3954+2T>C (n.3954+2T>C)
c.3999+2T>C (n.3999+2T>C)
c.3864+2T>C (n.3864+2T>C)
c.3996+2T>C (n.3996+2T>C)
n.287+2T>C
n.788+2T>C
n.122+2T>C
n.263+2T>C
c.3861+2T>C (n.3861+2T>C)
n.4157+2T>C
 gnomAD v4

Number of alleles fetched