Table 2 Common SNVs associated with non-syndromic sagittal craniosynostosis included in craniosynostosis-associated genes panel (based on Justice et al.46).

From: Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

SNV

Gene

Genomic region

Description

rs1009355

BBS9

Chr7:33218763

common intron variant; NM_198428.2:c.442 + 1560T > A

rs10254116

BBS9

Chr7:33237489

common intron variant, NM_198428.2:c.442 + 20286T > C

rs10262453

BBS9

Chr7:33256039

common intron variant, NM_198428.2:c.442 + 38836A > C

rs1420154

BBS9

Chr7:33290931

common intron variant, NM_198428.2:c.443-5917G > A

rs142092

n/a

Chr20:7093432

common genomic variant, NC_000020.10:g.7093432T > C

rs179753

LINC01428

Chr20:7151968

common intron variant, NR_110609.1:n.298 + 12022C > T

rs1884302

n/a

Chr20: 7106289

common genomic variant, NC_000020.10:g.7106289T > C

rs4140470

LINC01428

Chr20:14371737

common intron variant, NR_110609.1:n.164 + 14997T > C

rs6054814

LINC01428

Chr20:7198501

common intron variant, NR_110609.1:n.164 + 23975C > A

rs6107929

n/a

Chr20:7121672

common intron variant, NC_000020.10:g.7121672A > G

rs6140226

LINC01428

Chr20: 7226483

common intron variant, NR_110609.1:n.117-3960G > A