Familiy number | The number of participants | Gene | The number of the exon | Mutation | Amino acid change | Nucleotide change | Novel/Reported | Familial/Sporadic |
---|---|---|---|---|---|---|---|---|
MO-1 | 4 | EXT2 | Exon6 | Missense | p.C339F | c.1016G > T | R | F |
MO-2 | 4 | EXT1 | Exon6 | Frame shift | p.T488fs | c.1462AΔ1nt | N | F |
MO-3 | 3 | EXT1 | Exon6 | Frame shift | p.T490fs | c.1469TΔ1nt | R | F |
MO-4 | 2 | EXT1 | Exon8 | Frame shift | p.F550fs | c.T1650Δ1nt | N | F |
MO-5 | 1 | a- | - | - | - | - | - | F |
MO-6 | 1 | EXT1 | Exon5 | Frame shift | p.R433fs | c.A1297Δ2nt | R | F |
MO-7 | 1 | EXT2 | Exon 5 | Missense | p.R297H | c.890G > A | N | F |
MO-8 | 2 | EXT1 | Exon1 | Nonsense | p.Q27X | c.79C > T | N | F |
MO-9 | 2 | - | - | - | - | - | - | F |
MO-10 | 1 | - | - | - | - | - | - | F |
MO-11 | 1 | EXT1 | Exon2 | Missense | p.R341S | c.1023G > C | R | F |
EXT2 | Exon2 | Missense | p.R128W | c.382C > T | R | F | ||
MO-12 | 2 | - | - | - | - | - | - | F |
MO-13 | 1 | EXT2 | Exon8 | Nonsense | p.W429X | c.1286G > A | R | F |
MO-14 | 1 | EXT1 | Exon6 | Frame shift | p.L490fs | c.1469TΔ1nt | R | F |
MO-15 | 1 | - | - | - | - | - | - | F |
MO-16 | 1 | EXT2 | Exon3 | Nonsense | p.R182X | c.544C > T | R | F |
MO-17 | 2 | - | - | - | - | - | - | F |
MO-18 | 1 | - | - | - | - | - | - | F |
MO-19 | 1 | - | - | - | - | - | - | S |
MO-20 | 1 | EXT2 | Exon5 | Insertion | p.V282ins | c.846A insertion | N | S |
MO-21 | 2 | EXT1 | Exon2 | Missense | p.R340H | c.1019G > A | R | F |
MO-22 | 1 | - | - | - | - | - | - | F |
MO-23 | 2 | - | - | - | - | - | - | F |
MO-24 | 1 | EXT2 | Exon5 | Missense | p.R299H | c.896G > A | R | F |
MO-25 | 1 | EXT1 | Exon5 | Frame shift | p.P466fs | c.1395del del. | R | F |
EXT1 | Exon8 | Missense | p.F550S | c.1649T > C | N | F | ||
MO-26 | 2 | - | - | - | - | - | - | F |
MO-27 | 1 | EXT2 | Exon2 | Frame shift | p.F30fs | c.88TΔ5nt | N | F |
MO-28 | 1 | EXT1 | Exon2 | Missense | p.R340L | c.1019G > T | R | F |
MO-29 | 2 | EXT1 | Exon3 | Missense | p.C355Y | c.1064G > A | N | F |
MO-30 | 1 | - | - | - | - | - | - | F |
MO-31 | 2 | EXT1 | Exon1 | Nonsense | p.W304X | c.912G > A | R | F |
MO-32 | 3 | EXT1 | Exon9 | Nonsense | p.W612X | c.1797G > A | R | F |
MO-33 | 2 | EXT1 | Exon1 | Frame shift | p.L26fs | c.78 T (Δ1nt) | N | F |
MO-34 | 2 | - | - | - | - | - | - | F |
MO-35 | 1 | EXT2 | Intron7 | Splicing mutation | - | c.(1173 + 1)G > A | R | F |
MO-36 | 1 | EXT2 | Exon3 | Nonsense | p.R182X | c.544C > T | R | F |
MO-37 | 2 | EXT1 | Exon1 | Nonsense | p.Q165X | c.493C > T | R | F |
MO-38 | 1 | - | - | - | - | - | - | F |
MO-39 | 1 | - | - | - | - | - | - | S |
MO-40 | 1 | EXT1 | Exon2 | Missense | p.R340H | c.1019G > A | R | F |
MO-41 | 2 | - | - | - | - | - | - | F |
MO-43 | 2 | EXT1 | Exon2 | Missense | p.R341S | c.1023G > C | R | F |
MO-44 | 2 | EXT2 | Exon3 | Missense | p.A202V | c.605C > T | R | F |
EXT1 | Exon1 | Nonsense | p.G24X | c.70G > T | N | F | ||
MO-45 | 4 | EXT1 | Exon1 | Frame shift | p.R314fs | c.941G (+2nt) | N | F |
MO-46 | 1 | EXT1 | Exon1 | Nonsense | p.E74X | c.220G > T | N | F |
MO-47 | 1 | EXT2 | Exon2 | Missense | p.L152R | c.455T > G | R | F |
EXT1 | Exon1 | Missense | p.Q150R | c.499A > G | N | F | ||
MO-48 | 1 | EXT1 | Exon1 | Frame shift | p.T297fs | c.888CΔ1nt | N | F |
MO-49 | 4 | - | - | - | - | - | - | F |
MO-50 | 2 | EXT2 | Exon7 | Nonsense | p.Y374X | c.1122C > A | N | F |
MO-51 | 1 | EXT2 | Exon2 | Frame shift | p.S121fs | c.361TΔ2nt | R | F |
MO-52 | 2 | EXT2 | Exon4 | Missense | p.D227N | c.679G > A | R | F |
MO-53 | 1 | EXT1 | Exon3 | Frame shift | p.M359fs | Δ8nt | N | F |
MO-54 | 1 | - | - | - | - | - | - | F |
MO-55 | 1 | - | - | - | - | - | - | F |
MO-56 | 1 | EXT1 | Exon10 | Nonsense | p.Q685X | c.2053C > T | R | F |
MO-57 | 2 | EXT1 | Exon1 | Frame shift | p.K321fs | c.960GΔ1nt | N | F |
MO-58 | 1 | EXT2 | Exon6 | Missense | p.P341T | c.1021C > A | N | F |
MO-59 | 1 | EXT1 | Exon1 | Missense | p.I221V | c.661A > G | N | F |
EXT1 | Exon5 | Frame shift | p.P466fs | c.1395TΔ1nt | R | F | ||
MO-60 | 2 | EXT1 | Exon2 | Missense | p.R340H | c.1019G > A | R | F |
MO-61 | 2 | EXT1 | Exon1 | Frame shift | p.K218fs | Δ14nt | R | F |
MO-65 | 1 | - | - | - | - | - | - | F |
MO-66 | 1 | EXT1 | Exon1 | Frame shift | p.K218fs | Δ18nt | R | F |
MO-67 | 1 | - | - | - | - | - | - | S |
MO-68 | 1 | - | - | - | - | - | - | F |
MO-70 | 1 | EXT1 | IVS9 | Splicing mutation | intron/exon10 G > A | N | F | |
MO-72 | 2 | EXT1 | Exon1 | Nonsense | p.E139X | c.415G > T | N | F |
MO-73 | 1 | EXT2 | Exon5 | Missense | p.R299H | c.896G > A | R | F |
MO-74 | 3 | - | - | - | - | - | - | F |
MO-75 | 2 | EXT2 | Exon4 | Missense | p.D227N | c.679G > A | R | F |
MO-76 | 1 | - | - | - | - | - | - | F |
MO-77 | 1 | EXT1 | IVS5 | Splicing mutation | exon5/intron G > T | N | F |