Sample name | Variant 1 | Variant 2 | Variant 3 | Polygenic or oligogenic inheritance? |
MQ140094 | ATXN2 CAG repeat expansion | SETX c.T7640C, p.I2547T | . | Polygenic |
SALS0890 | ATXN2 CAG repeat expansion | SQSTM1 c.G822C, p.E274D | . | Polygenic |
SALS1278 | ATXN2 CAG repeat expansion | SQSTM1 c.G822C, p.E274D | . | Polygenic |
SALS0396 | C21orf2 c.G172T, p.V58L | SPG11 c.A6224G, p.N2075S | . | Polygenic |
SALS1724 | C9orf72 GGGGCC expansion | ATXN2 CAG repeat expansion | NEK1 c.G782A, p.R261H | Oligogenic |
SALS0782 | C9orf72 GGGGCC expansion | C21orf2 c.G172T, p.V58L | . | Oligogenic |
SALS1806 | C9orf72 GGGGCC expansion | C21orf2 c.G172T, p.V58L | . | Oligogenic |
MQ140100 | C9orf72 GGGGCC expansion | CHCHD10 c.C239T, p.P80L | . | Oligogenic |
SALS0846 | C9orf72 GGGGCC expansion | FUS c.*41G>A, intronic | . | Oligogenic |
SALS1354 | C9orf72 GGGGCC expansion | FUS c.*41G>A, intronic | . | Oligogenic |
SALS1574 | C9orf72 GGGGCC expansion | FUS c.833–29C>T, intronic | . | Oligogenic |
SALS1488 | C9orf72 GGGGCC expansion | FUS c.833–29C>T, intronic | OPTN c.T293A, p.M98K | Oligogenic |
SALS2337 | C9orf72 GGGGCC expansion | OPTN c.G476T, p.G159V | . | Oligogenic |
SALS0859 | C9orf72 GGGGCC expansion | OPTN c.T293A, p.M98K | . | Oligogenic |
SALS1387 | C9orf72 GGGGCC expansion | SETX c.T7640C, p.I2547T | . | Oligogenic |
SALS0326 | C9orf72 GGGGCC expansion | SPG11 c.A6224G, p.N2075S | . | Oligogenic |
SALS1090 | C9orf72 GGGGCC expansion | SPG11 c.A6224G, p.N2075S | . | Oligogenic |
SALS0934 | C9orf72 GGGGCC expansion | SQSTM1 c.G822C, p.E274D | . | Oligogenic |
SALS1522 | C9orf72 GGGGCC expansion | SQSTM1 c.G822C, p.E274D | . | Oligogenic |
SALS1960 | C9orf72 GGGGCC expansion | SQSTM1 c.G822C, p.E274D | . | Oligogenic |
SALS2359 | C9orf72 GGGGCC expansion | SQSTM1 c.G822C, p.E274D | . | Oligogenic |
SALS1910 | CHCHD10 c.C100T, p.P34S | SETX c.T7640C, p.I2547T | . | Polygenic |
SALS1980 | CHCHD10 c.C100T, p.P34S | SQSTM1 c.G822C, p.E274D | . | Polygenic |
MQ130086 | FUS c.*41G>A, intronic | CCNF c.G2140A, p.V714M | . | Polygenic |
SALS1809 | FUS c.*41G>A, intronic | OPTN c.G403T, p.E135X | . | Polygenic |
MQ150164 | FUS c.*41G>A, intronic | OPTN c.T293A, p.M98K | . | Polygenic |
SALS0226 | FUS c.*41G>A, intronic | OPTN c.T293A, p.M98K | CHCHD10 c.C239T, p.P80L | Polygenic |
MQ140255 | FUS c.833–29C>T, intronic | NEK1 c.C3107G, p.S1036X | . | Polygenic |
MN201410 | FUS c.833–29C>T, intronic | OPTN c.T293A, p.M98K | . | Polygenic |
SALS0312 | FUS c.833–29C>T, intronic | SETX c.A2975G, p.K992R | . | Polygenic |
SALS2282 | NEK1 c.C3107G, p.S1036X | ANG c.A122T, p.K41I | . | Polygenic |
MQ160055 | NEK1 c.G782A, p.R261H | OPTN c.T293A, p.M98K | . | Polygenic |
SALS1700 | OPTN c.T293A, p.M98K | NEFH c.2230_2247del, intronic | . | Polygenic |
SALS2258* | SOD1 c.T341C, p.I114T | CCNF c.G2140A, p.V714M | C21orf2 c.G172T, p.V58L | Oligogenic |
MN201517* | SOD1 c.T341C, p.I114T | SETX c.A2975G, p.K992R | . | Oligogenic |
SALS1259* | SOD1 c.T341C, p.I114T | SQSTM1 c.G822C, p.E274D | . | Oligogenic |
MQ140090 | SQSTM1 c.G822C, p.E274D | ANG c.A208G, p.I70V | . | Polygenic |
SALS1380 | SQSTM1 c.G822C, p.E274D | DCTN1 c.C3746T, p.T1249I | . | Polygenic |
SALS0189 | SQSTM1 c.G822C, p.E274D | OPTN c.T293A, p.M98K | . | Polygenic |
SALS2285 | SQSTM1 g.3'+7G>C, intronic | OPTN c.T293A, p.M98K | . | Polygenic |
SALS1130 | TARDBP c.543+112C>A, intronic | C21orf2 c.G172T, p.V58L | . | Polygenic |
MQ140199 | TBK1 c.A871G, p.K291E | OPTN c.T293A, p.M98K | . | Polygenic |
*Reclassified as FALS in the study by Henden et al.35
FALS, familial amyotrophic lateral sclerosis; SALS, sporadic amyotrophic lateral sclerosis.