Jos Jansen

58 Chapter 2 Table S2. Candidate gene list of exome sequencing data for CCDC115 deficient siblings F1-II1 and F1-II2 chro- mo- some Genomic position [hg19] Refe- rence nu- cleo- tide Vari- ant nu- cleo- tide Cover- age F1-II1 / F1-II2 %Va- riant reads F1-II1 / F1-II2 %Va- riant reads F1-II1 / F1-II2 SNP ID SNP Fre- quen- cy [%] In- house db Gene Isoform ID Strand Protein positi- on cDNA position Phy- loP Gran- tham dis- tance Homozygous variants 2 131099607 A G 12 / 16 11 / 16 92 / 100 0 0 CCDC115 NM_032357 - L31S 92A > G 2.27 145 6 112575045 C T 54 / 64 54 / 64 100 / 100 0 0 LAMA4 NM_001105209 - S103N 308C > T -0.052 46 6 112441491 G A 75 / 45 74 / 45 99 / 100 0 0 LAMA4 NM_001105206 - H1554Y 4639G > A 5.611 83 6 109787164 T C 27 / 33 26 / 33 96 / 100 0 0 ZBTB24 NM_014797 - T662A 1984T > C 0.573 58 7 104751219 C A 99 / 64 99 / 64 100 / 100 0 0 MLL5 NM_018682 + D1324E 3972C > A -0.137 45 10 72509677 C T 33 / 34 33 / 34 100 / 100 0.15 1 ADAMTS14 NM_139155 + A788V 2372C > T 0.476 64 10 102256987 C T 87 / 84 86 / 83 99 / 99 rs149827193 0.15 1 SEC31B NM_015490 - E681K 2041C > T 2.207 56 Compound heterozygous variants 2 182767128 C T 78 / 96 41 / 44 52 / 46 rs184179348 0.001 0 SSFA2 NM_001130445 + P450S 1348C > T 2.349 74 2 182783319 T C 63 / 92 14 / 47 22 / 51 rs193034331 0.001 0 SSFA2 NM_006751 + No protein - 0.267 0 12 56349606 C T 31 / 25 14 / 9 45 / 36 rs76045902 0.021 0 PMEL NM_001200054 - G505S 1513G > A 0.669 56 12 56349121 A G 271 / 201 117 / 151 43 / 38 rs57990974 0.021 0 PMEL NM_001200054 - V603A 1787A > G 1.326 64