Gene | Type of mutation | Mutation (Transcript) | Mutation (Protein) | Exon | Number of families | Number of affected individuals | References for mutation description | References for clinical description |
---|---|---|---|---|---|---|---|---|
TTC37 | Deletion | c.287_291del | p.(Leu96Trpfs*11) | 6 | 1 | 2 | [3] | [15] patient 22 |
 | Stop | c.439C < T | p.(Gln147*) | 8 | 1 | 1 | [2] | [2] patient 10 |
 | Missense | c.751G < A | p.(Phe215GluFs*14) | 10 | 1 | 1 | [2] | [2] patient 7 |
 | Deletion | c.811del | p.(Ser271Valfs*8) | 11 | 1 | 1 | Personal Data |  |
 | Deletion | c.1168del | p.(Val390Phefs*30) | 14 | 1 | 1 | [3] |  |
 | Deletion | c.1300_1301del | p.(Lys434Glyfs*14) | 15 | 1 | 1 | [2] | [2] patient 9 |
 | Duplication | c.1305dup | p.(Tyr436Leufs*13) | 15 | 1 | 1 | Personal Data |  |
 | Splice site | c.1632 + 1del | p.(Glu545Phefs*40) | 17 | 1 | 1 | [2] patient 5 | [2] |
 | Splice site | c.1453-1G < C | ND | 17 | 1 | 1 | Personal Data |  |
 | Stop | c.1708C < T | p.(Arg570*) | 18 | 1 | 1 | Personal Data |  |
 | Stop | c.2251C < T | p.(Gln751*) | 21 | 1 | 1 | [2] | [2] patient 10 |
 | Splice site | c.2515 + 1G < C | p.(Cys813ValfsX56) | 23 | 1 | 1 | [3] |  |
 | Splice site | c.2578-7_2578-3del | p.(Asn860_878GluDel) | 25 | 1 | 1 | [3] | [1] patient 1 |
 | Splice site | c.2779-2A < G | p.(Glu974Glyfs*19) | 28 | 2 | 2 | [2] | [2] patients 4 and 6 |
 | Stop | c.2808G < A | p.(Trp936*) | 28 | 4 | 5 | [2] | [2] patients 1,2, 8,12, |
 | Splice site | c.2921-2G < A | ND | 29 | 1 | 1 | [14] |  |
 | Splice site | c.3015-1G < A | ND | 30 | 1 | 1 | [3] |  |
 | Splice site | c.3564-2A < G | ND | 31 | 1 | 1 | [3] |  |
 | Missense | c.3230C < A | p.(Ala1077Asp) | 32 | 1 | 1 | [3] | [15] patient 18 |
 | Missense | c.3808C < G | p.(Pro1270Ala) | 37 | 1 | 1 | [3] |  |
 | Missense | c.3847G < A | p.(Asp1283Asn) | 37 | 2 | 2 | [2] | [2] patients 3 and 11 |
 | Stop | c.3960C < A | p.(Tyr1320*) | 38 | 1 | 1 | [3] | [1] patient 2 |
 | Missense | c.4454T < G | p.(Leu1485Arg) | 41 | 1 | 1 | [3] |  |
 | Missense | c.4514T < C | p.(Leu1505Ser) | 42 | 2 | 2 | [2] | [2] patient 9 |
 | Splice site | c.4620 + 1G < C | p.(Trp1524_1564DelIns61) | 42 | 1 | 1 | [3] | [1] patient 1 |
SKIV2L | Stop | c.848G < A, | p.(Trp283*) | 9 | 1 | 1 | [4] |  |
 | Missense | c.1022T < G | p.(Val341Gly) | 10 | 1 | 1 | [4] |  |
 | Deletion | c.1434del | p.(Ser479Alafs*3) | 14 | 1 | 1 | [4] | [15] patient 25 |
 | Insertion | c.1635_1636insA, | p.(Gly546Argfs*35) | 15 | 1 | 1 | [4] | [15] patient 21 |
 | Stop | c.2266C < T | p.(Arg756*) | 19 | 1 | 1 | [4] | [15] patient 23 |
 | Stop | c.2442G < A | p.(Trp814*) | 20 | 1 | 1 | [4] | [15] patient 23 |
 | Deletion | c.2572del | p.(Val858*) | 21 | 1 | 1 | [4] |  |
 | Deletion | c.2662_2663del | p.(Arg888Glyfs*12) | 22 | 1 | 1 | [4] |  |
 | Deletion | c.3561_3581del | p.(Ser1189_Leu1195del) | 28 | 1 | 1 | Personal Data |  |