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Supplementary Table 2: Patient Identifiers in the Leiden Open Variation Database (LOVD)
Patient / Gene / exon / Variant (cDNA) / Protein change / LOVD screening ID / LOVD Individual IDP89815 / TUBA1A ex.2 / c.4C>A / p.(R2S)
de novo / 0000100862 / 00100455
P113708
II-1 (proband) / TUBA1A
ex.2 / c.161G>A / p.(S54N) / 0000100864 / 00100456
P113708
II-2 (sibling) / 0000100865 / 00100457
P113708
I-3 (father) / 0000100866 / 00100459
P78411 / TUBA1A ex.2 / c.175G>A / p.(G59S)
de novo / 0000100868 / 00100460
TUB01 / TUBA1A ex.3 / c.352G>C / p.(V118L)
de novo / 0000100869 / 00100461
P34016 / TUBA1A ex.3 / c.368G>A / p.(R123H)
de novo / 0000100870 / 00100462
P46814
II-1 (proband) / TUBA1A ex.4 / c.449C>T / p.(T150I)
de novo / 0000100871 / 00100463
P46814
II-2 (identical twin sister) / 0000100872 / 00100464
TUB06 / TUBA1A ex.4 / c.641G>A / p.(R214H)* / 0000100873 / 00100465
TUB07 / TUBA1A ex.4 / c.790C>T / p.(R264C)* / 0000100874 / 00100466
P76111 / TUBA1A ex.4 / c.1160C>T / p.(A387V)
de novo / 0000100875 / 00100467
21807 / TUBA1A ex.4 / c.1169G>A / p.(R390H)
de novo / 0000100876 / 00100468
17656 / TUBA1A ex.4 / c.1169G>A / p.(R390H)* / 0000100877 / 00100469
P38408 / TUBB2B ex.4 / c.419G>C / p.(G140A)
de novo / 0000100853 / 00100447
17897 / TUBB2B ex.4 / c.629T>C / p.(I210T)
de novo / 0000100854 / 00100448
18912 / TUBB2B ex.4 / c.683T>C / p.(L228P)
de novo / 0000100860 / 00100452
P58315 / TUBB2B ex.4 / c.980A>G / p.(D327G)
de novo / 0000100855 / 00100449
P76712 / TUBB2B ex.4 / c.1060T>C / p.(C354R)
de novo / 0000100856 / 00100450
P78511 / TUBB2B ex.4 / c.1080 _1084del CCTGAinsACATCTTC / p.(L361_K362delinsHLQ)
de novo / 0000100861 / 00100454
14382 / TUBB2B ex.4 / c.1138C>T / p.(R380C)** / 0000100857 / 00100451
P216 / TUBB2B ex.4 / c.1261G>A / p.(E421K)* / 0000100859 / 00100453
P62715 / TUBB3 ex.4 / c.712A>G / p.(T238A)
de novo / 0000100845 / 00100440
P7615 / TUBB3 ex.4 / c.862G>A / p.(E288K)
de novo / 0000100847 / 00100441
P105814 / TUBB3 ex.4 / c.862G>A / p.(E288K)
de novo / 0000100848 / 00100442
P49016 / TUBB3 ex.4 / c.874C>G / p.(Q292E)
de novo / 0000100850 / 00100444
TUB03 / TUBB3 ex.4 / c.1138C>T / p.(R380C) / 0000100849 / 00100443
P17816 / TUBB3 ex.4 / c.1228G>A / p.(E410K) / 0000100851 / 00100445
Legend: *parents not available; **only mother tested (wild type).