Table 2.
Gene | Mutation | Sequence | Pool Number |
BCAN | p.Gly648Val | VPASVNSAQGSTALSILLL | 1 |
DIAPH1 | p.Cys267Tyr | VPNMMIDAAKLLSALYIL | |
CNTNAP2 | p.Arg389Trp | VPVFFNATSYLEVPGWL | |
NDN | p.Asp321Gly | EANPTAHYPRSSVSEG | |
LPCAT1 | p.Cys514Phe | GFFADFSPENSDAGRK | |
TXNRD2 | p.Glu413Gln | VGLSEQEAVARHGQEH | |
SLC2A4 | p.Ser281Arg | LGRRTHRQPLIIAVVL | |
ALS2 | p.Pro1029Arg | LPPYGSGSSVQRQEPR | |
ATAD2B | p.His1097Gln | RGLSVTSEQINPQSTG | |
SYT7 | p.Asp642Asn | LRETTIIITVMDKNKL | |
CPA1 | p.Leu96Pro | HGISYETMIEDVQSPL | 2 |
PTPRD | p.Asp1248Glu | YSEPVVSMDLDPQPIT | |
KIF2C | p.Met217Ile | EMRIKRAQEYDSSFPN | |
PRKCQ | p.Ile73Thr | STFDAHINKGRVMQIT | |
ACTN2 | p.Thr609Ile | SSNPYSTVTMDELRIK | |
MYH14 | p.Arg861His | AARGYLAHRAFQKRQQ | |
IGSF1 | p.Ser866Gly | NYSCRYYDFSIWSEPG | |
C19orf35 | p.Ala210Ser | DAWHILVAKVPKPGSD | |
ADCY10 | p.Cys953Tyr | KAMHLKYARFLEEDAH | |
PRDM12 | p.Gly21Arg | APRLALAEVITSDILH | |
TFAP2A | p.Pro317Arg | GTHGRTPSWSPASRAA | 3 |
EPHX1 | p.Leu172Arg | RSDEHVFEVICPSIPG | |
PNPLA6 | p.Pro707Ser | SRATTVHAVRDTELAK | |
NSD1 | p.Ala976Thr | STNPSPSGGDSALSG | |
WFDC3 | p.Pro144Ser | EELCDGDASCSQGHK | |
TRAV7 | p.Gln59His | TYSVSRFNNLQWYRH | |
UBB | p.Asp210Gly | SGYNIQKESTLHLVL | |
UBB | p.Asp210Gly | KQLEDGRTLSGYNIQ | |
EPHX1 | p.Leu172Arg | YKIIPLLTDPKNHGR | |
EPHX1 | p.Leu172Arg | KIIPLLTDPKNHGRS | |
CHRDL2 | p.His403Leu | LEGHWNVFLAQTLEL | 4 |
DIAPH1 | p.Cys267Tyr | LSALYILPQPEDMNE | |
LPCAT1 | p.Cys514Phe | IPNGFFADFSPENSD | |
KLHL9 | p.Ala410Gly | VGGRSAGGELATVE | |
DOCK5 | p.Pro1851Ser | LPVRREAKAPSPPP | |
TRPM6 | p.Val613Leu | TGFLYPYNDLLLWA | |
KAT5 | p.Gly31Cys | GPPVADPCVALSPQ | |
KCNIP1 | p.Ala104Thr | SPTLLFCLVDASTY | |
PSG1 | p.Phe426Ile | VSGKWIPASLAIGI | |
KIAA1551 | p.Leu156Val | SQVITSDTYSMQMQ | |
USP4 | p.Asp249Glu | GMALQNYENKLVK | 5 |
CD244 | p.Tyr369Phe | SRKELENFDVF | |
UBB | p.Asp210Gly | QLEDGRTLSGY | |
AS3MT | p.Ile274Thr | VTYNGGITGH | |
CSMD3 | p.Asp3578Tyr | KMKEENWAMY | |
MYH14 | p.Arg861His | AARGYLAHR | |
CNTNAP2 | p.Arg389Trp | SYLEVPGWL | |
UBB | p.Asp210Gly | GRTLSGYNI | |
DIAPH1 | p.Cys267Tyr | KLLSALYIL | |
ASH1L | p.Ser1539Ala | CHMACPHLS | |
UBR1 | p.Met1051Leu | LLYDNTSEM | 6 |
RALGAPB | p.Arg1130His | HLPPHLIAL | |
KIAA1683 | p.Thr1164Ala | HLCRATATI | |
RNF207 | p.Leu485Val | ASVEGMRVV | |
PPAT | p.Gln106His | CHPFVVETL | |
VAV1 | p.Asn316Lys | RAKNGRFTL | |
SLC24A2 | p.Ala390Thr | KASILHKIT | |
TMC3 | p.His852Asn | THIEDVNSE | |
BIRC7 | p.Asp96His | LASFYHWPL | |
SLC5A5 | p.Asp322Glu | EQYMPLLVL | |
PSG2 | p.Leu236His | HHGPDLPRI | 7 |
LRP2 | p.Asn1280His | FHCDHGNCI | |
RPTN | p.Gln261Arg | QASHFNRTN | |
IPO4 | p.Pro825Ser | QSLTWLHRL | |
DCST1 | p.Ser35Asn | RQKNGLLSY | |
C17orf64 | p.Tyr80Asp | KLKDMKQSL | |
UBB | p.Asp210Gly | TLSGYNIQK | |
EPHX1 | p.Leu172Arg | HGRSDEHVF | |
DHX30 | p.Ile873Met | SKAVDSPNM | |
DHX30 | p.Ile873Met | KAVDSPNMK | |
DHX30 | p.Ile873Met | VDSPNMKAV | 8 |
DIAPH1 | p.Cys267Tyr | AAKLLSALY | |
LPCAT1 | p.Cys514Phe | IPNGFFADF |