From: Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
No. | Mutations (cDNA level) | Mutations (protein level) |
---|---|---|
1 - 23 | c.550delA/c.550delA | p.(Thr184Argfs*36)/p.(Thr184Argfs*36) |
24, 25 | c.550delA/c.245C > T | p.(Thr184Argfs*36)/p.(Pro82Leu) |
26 | c.550delA/c.328C > T | p.(Thr184Argfs*36)/p.(Arg110*) |
27 | c.550delA/c.509A > G | p.(Thr184Argfs*36)/p.(Tyr170Cys) |
28 | c.550delA/c.598_612del | p.Thr184Argfs*36/p.Phe200_Leu204del |
29 | c.550delA/c.1043delG | p.(Thr184Argfs*36)/p.(Gly348Valfs*4) |
30 | c.550delA/c.1069C > T | p.(Thr184Argfs*36)/p.(Arg357Trp) |
31 | c.550delA/c.1451T > C | p.(Thr184Argfs*36)/p.(Leu484Pro) |
32 | c.550delA/c.1465C > T | p.(Thr184Argfs*36)/p.(Arg489Trp) |
33, 34 | c.550delA/c.1468C > T | p.Thr184Argfs*36/p.(Arg490Trp) |
35 | c.550delA/c.1470delG | p.(Thr184Argfs*36)/p.(Arg490Argfs*6) |
36, 37 | c.550delA/c.1722delC | p.Thr184Argfs*36/p.Ser575Leufs*20 |
38 | c.550delA/c.1823G > A | p.(Thr184Argfs*36)/p.(Arg608Lys) |
39 | c.550delA/c.1981delA | p.Thr184Argfs*36/p.Ile661* |
40 | c.550delA/c.2245A > C | p.(Thr184Argfs*36)/p.(Asn749His) |
41 | c.1A > G/c.865C > T | p.(Met1Val)/p.(Arg289Trp) |
42 | c.133G > A/c.133G > A | p.Ala45Thr/p.Ala45Thr |
43 | c.146G > A/c.1069C > T | p.(Arg49His)/p.(Arg357Trp) |
44 | c.224A > G/c.224A > G | p.Tyr75Cys/p.Tyr75Cys |
45 | c.245C > T/c.245C > T | p.Pro82Leu/p.Pro82Leu |
46 | c.245C > T/c.1800 + 1G > A | p.(Pro82Leu)/splicing |
47 | c.245C > T/c.1855C > T | p.(Pro82Leu)/p.(Gln619*) |
48 | c.245C > T/c.2314_2317del | p.Pro82Leu/p.Asp772Asnfs*3 |
49 | c.509A > G/c.509A > G | p.(Tyr170Cys)/p.(Tyr170Cys) |
50 | c.598_612del/c.598_612del | p.(Phe200_Leu204del)/p.(Phe200_Leu204del) |
51 | c.598_612del/c.640G > A | p.(Phe200_Leu204del)/p.(Gly214Ser) |
52 | c.598_612del/c.2245A > C | p.Phe200_Leu204del/p.Asn749His |
53 | c.1043delG/c.1094G > A | p.(Gly348Valfs*4)/p.(Trp365*) |
54 | c.1043delG/c.1343G > A | p.(Gly348Valfs*4)/p.(Arg448His) |
55 | c.1194-9A > G/c.1800 + 1G > A | splicing/splicing |
56 | c.1194-9A > G/c.2393C > A | splicing/p.(Ala798Glu) |
57 | c.1250C > T/c.1250C > T | p.(Thr417Met)/p.(Thr417Met) |
58 | c.1322G > A/c.1322G > A | p.Gly441Asn/p.Gly441Asn |
59 | c.1322delG/c.2114A > G | p.(Gly441Valfs*22)/p.(Asp705Gly) |
60 | c.1343G > A/c.2093G > A | p.(Arg448His)/p.(Arg698His) |
61 | c.1468C > T/c.2314_2317del | p.(Arg490Trp)/p.(Asp772Asnfs*3) |
62 | c.1788_1793del/c.2242C > T | p.Lys597_Lys598del/p.Arg748* |
63 - 66 | c.598_612del/c.1746-20C > G | p.(Phe200_Leu204del)/splicing |
67 | c.614T > C/c.1746-20C > G | p.(Leu205Pro)/splicing |
68, 69 | c.550delA/- | p.(Thr184Argfs*36)/- |
70, 71 | c.598_612del/- | p.(Phe200_Leu204del)/- |