Table 1.
Genetics
| Subject Number |
Subject ID |
Variant 1 |
|
| P1 | MM_0020 | c.4918C>T;c.4222T>C | p.Arg1640Trp;p.Trp1408Arg |
| P2 | MM_0021 | c.5882G>A | p.Gly1961Glu |
| P3 | MM_0058 | c.5882G>A | p.Gly1961Glu |
| P4 | MM_0070 | c.5882G>A;c.3758C>T | p.Gly1961Glu;p.Thr1253Met |
| P5 | MM_0090 | c.3322C>T | p.Arg1108Cys |
| P6 | MM_0107 | c.5161_5162delAC | p.Thr1721HisfsTer65 |
| P7 | MM_0130 | c.768G>T | p.Val256Val, Splice site alteration |
| P8 | MM_0138 | c.5898+2T>C | Splice site alteration |
| P9 | MM_0146 | c.5196+1137G>A | Deep intronic change |
| P10 | MM_0148 | c.5461-10T>C | Splice site alteration |
| P11 | MM_0230 | c.4139C>T | p.Pro1380Leu |
| P12 | MM_0227 | c.6391G>A | p.Glu2131Lys |
| P13 | MM_0258 | c.4793C>A | p.Ala1598Asp |
| P14 | MM_0286 | c.4685T>C | p.Ile1562Thr |
| P15 | MM_0281 | c.4469G>A | p.Cys1490Tyr |
| P16 | MM_0282 | c.5461-10T>C | Splice-site alteration |
| P17 | MM_0284 | c.1253T>C | p.Phe418Ser |
| P18 | MM_0312 | c.3322C>T | p.Arg1108Cys |
| P19 | MM_0326 | c.214G>A | p.Gly72Arg |
| P20 | MM_0356 | c.1253T>C | p.Phe418Ser |
| P21 | MM_0291 | c.1648G>A | p.Gly550Arg |
| P22 | MM_0026 | c.5549T>C | p.Leu1850Pro |
| P23 | MM_0225 | c.4469G>A | p.Cys1490Tyr |
| P24 | MM_0131 | c.768G>T | p.Val256Val, splice-site alteration |
| P25 | MM_0360 | c.214G>A | p.Gly72Arg |
| P26 | MM_0382 | c.6445C>T | p.Arg2149Ter |
| P27 | MM_0399 | c.1622T>C; c.3113C>T | p.Leu541Pro;p.Ala1038Val |
| P28 | MM_0421 | c.4571A>G | p.Asp1524Gly |
| P29 | MM_0431 | c.6320G>A | p.Arg2107His |
| P30 | MM_0432 | c.4462T>C | p.Cys1488Arg |
| P31 | MM_0240 | c.29_30insT | p.Leu10PhefsTer44 |
| P32 | MM_0113 | c.6817-2A>C | Splice-site alteration |
| P33 | MM_0185 | c.4918C>T;c.4222T>C | p.Arg1640Trp;p.Trp1408Arg |
| P34 | MM_0246 | c.5461-10T>C | Splice-site alteration |
| P35 | MM_0260 | c.4539+2065C>G | Deep intronic change |
| P36 | MM_0314 | c.5461-10T>C | Splice-site alteration |
| P37 | MM_0108 | c.5161_5162delAC | p.Thr1721HisfsTer65 |
| P38 | MM_0228 | c.3113C>T;c.1622T>C | p.Ala1038Val;p.Leu541Pro |
| P39 | MM_0241 | c.3064G>A | p.Glu1022Lys |
| P40 | MM_0426 | c.6729+5_19delGTTGGCCCTGGGGCA | Splice-site alteration |
| P41 | MM_0433 | c.6729+5_19delGTTGGCCCTGGGGCA | Splice-site alteration |
| P42 | MM_0351 | c.1253T>C | p.Phe418Ser |
| P43 | MM_0310 | c.885delC | p.Asp295AspfsTer5 |
| P44 | MM_0267 | c.4469G>A | p.Cys1490Tyr |
| P45 | MM_0325 | c.214G>A | p.Gly72Arg |
| P46 | MM_0335 | c.6319C>T | p.Arg2107Cys |
Reference: NM_000350.2.
Novel variants are shown in italics.
Pathogenicity of novel variants was assessed with the previously reported methods.11