Func | Gene | ExonicFunc | AAChange RefSeq | Conserved | Genomic location (hg19) | Ref | Het | Obs |
---|---|---|---|---|---|---|---|---|
exonic | NECAP2 | non | NM_001145277: c.G527A: p.R176Q | 336; LOD: 31 | chr1:16778370 | G | Het | A |
exonic | GJB4 | non | NM_153212: c.G371A: p.R124Q | 387; LOD: 50 | chr1:35227226 | G | Het | A |
exonic | ZC3H12A | non | NM_025079: c.C95T: p.P32L | chr1:37941192 | C | Het | T | |
exonic | HEATR8 | non | NM_001039464: c.T1103C: p.V368A | chr1:55119702 | T | Het | C | |
exonic | PTGER3 | non | NM_198718: c.A1136G: p.Q379R | chr1:71418711 | T | Het | C | |
exonic | SLC22A15 | non | NM_018420: c.G275C: p.S92T | 483; LOD: 122 | chr1:116534839 | G | Het | C |
exonic | FLG | stopgain | NM_002016: c.C9740A: p.S3247X | chr1:152277622 | G | Het | T | |
exonic | IGSF9 | non | NM_020789: c.G1085C: p.G362A | 492; LOD: 133 | chr1:159902414 | C | Het | G |
exonic | PLEKHA6 | non | NM_014935: c.C29T: p.P10L | chr1:204242827 | G | Het | A | |
exonic | OBSCN | non | NM_001098623: c.G6373T: p.A2125S | chr1:228464303 | G | Het | T | |
exonic | RNF187 | non | NM_001010858: c.C535T: p.R179W | 439; LOD: 81 | chr1:228680805 | C | Het | T |
exonic | EXO1 | non | NM_003686: c.G820A: p.G274R | 600; LOD: 366 | chr1:242023882 | G | Het | A |
exonic | ITSN2 | non | NM_019595: c.G4580A: p.R1527H | chr2:24431123 | C | Het | T | |
exonic | FBXO41 | non | NM_001080410: c.C1390T: p.R464C | 609; LOD: 398 | chr2:73492584 | G | Het | A |
exonic | BSN | non | NM_003458: c.C11090T: p.P3697L | 510; LOD: 158 | chr3:49700681 | C | Het | T |
exonic | HYAL3 | non | NM_001200030: c.G533A: p.R178H | 325; LOD: 28 | chr3:50332501 | C | Het | T |
exonic | CRIPAK | non | NM_175918: c.C394G: p.H132D | chr4:1388693 | C | Het | G | |
exonic | CRIPAK | non | NM_175918: c.C425G: p.P142R | chr4:1388724 | C | Het | G | |
exonic | CRIPAK | syn | NM_175918: c.C456G: p.P152P | chr4:1388755 | C | Het | G | |
exonic | TBC1D14 | non | NM_001113361: c.C538G: p.L180V | 569; LOD: 274 | chr4:6925654 | C | Het | G |
exonic | SLC2A9 | non | NM_020041: c.C824T: p.T275M | chr4:9922187 | G | Het | A | |
exonic | RAB33B | non | NM_031296: c.C530T: p.T177M | 653; LOD: 599 | chr4:140394120 | C | Het | T |
exonic | FREM3 | non | NM_001168235: c.G1570A: p.G524R | 383; LOD: 48 | chr4:144620259 | C | Het | T |
exonic | LOC345643 | non | NM_001190787: c.A361T: p.T121S | 419; LOD: 67 | chr5:54518800 | T | Het | A |
exonic | GPR98 | non | NM_032119: c.T6608C: p.V2203A | 657; LOD: 625 | chr5:89985795 | T | Het | C |
exonic | ULBP2 | non | NM_025217: c.C79G: p.R27G | chr6:150263287 | C | Het | G | |
exonic | SCAF8 | non | NM_014892: c.T3450A: p.D1150E | 678; LOD: 762 | chr6:155154163 | T | Het | A |
exonic | IQCE | non | NM_152558: c.G528C: p.E176D | 476; LOD: 115 | chr7:2617938 | G | Het | C |
exonic | POU5F1B | non | NM_001159542: c.G142T: p.G48W | chr8:128428253 | G | Het | T | |
exonic; splicing | ADAMTS13 | non | NM_139026: c.A3817G: p.I1273V | 378; LOD: 46 | chr9:136324096 | A | Het | G |
exonic | ADAMTSL2 | non | NM_001145320: c.G1261A: p.G421S | 420; LOD: 68 | chr9:136419800 | G | Het | A |
exonic | ARSD | non | NM_009589: c.C845A: p.A282D | 329; LOD: 29 | chrX:2835863 | G | Het | T |
exonic | SLC25A5 | non | NM_001152: c.G413A: p.R138H | 585; LOD: 319 | chrX:118603925 | G | Het | A |
exonic | MAGEC1 | non | NM_005462: c.G526C: p.V176L | 358; LOD: 38 | chrX:140993716 | G | Het | C |
exonic | SLC4A1 | non | NM_000342: c.G539A: p.R180H | chr17:42337247 | C | Het | T | |
exonic | HCN2 | non | NM_001194: c.G227A: p.R76H | 722; LOD: 1146 | chr19:590172 | G | Hom | A |
exonic; splicing | UNC13A | non | NM_001080421: c.C3080T: p.P1027L | 627; LOD: 471 | chr19:17749893 | G | Het | A |
exonic | ZNF780B | non | NM_001005851: c.C1282T: p.R428C | chr19:40541484 | G | Het | A | |
exonic | PSG8 | non | NM_001130167: c.C110T: p.T37M | chr19:43268388 | G | Het | A | |
exonic | ZC3H4 | non | NM_015168: c.C3326T: p.P1109L | 265; LOD: 16 | chr19:47570199 | G | Het | A |
exonic | VSX1 | stopgain | NM_199425: c.C165A: p.C55X | chr20:25062568 | G | Het | T | |
exonic | WFDC11 | non | NM_147197: c.T127C: p.W43R | 295; LOD: 21 | chr20:44278012 | A | Het | G |
exonic | LOC100132288 | non | NM_001033515: c.C232T: p.R78C | 422; LOD: 69 | chr21:9909103 | G | Het | A |
exonic | SERPINB4 | non | NM_002974: c.A193T: p.N65Y | chr18:61310424 | T | Het | A | |
exonic | SEZ6L2 | non | NM_001114099: c.G1342A: p.D448N | 592; LOD: 341 | chr16:29891206 | C | Het | T |
exonic | EPC1 | non | NM_025209: c.G1384A: p.G462S | 584; LOD: 314 | chr10:32575629 | C | Het | T |
exonic | PWWP2B | non | NM_138499: c.G1036A: p.E346K | 243; LOD: 13 | chr10:134219040 | G | Het | A |
exonic | SGK223 | non | NM_001080826: c.C622T: p.R208C | 401; LOD: 57 | chr8:8235297 | G | Het | A |
exonic | ATP6V0D2 | non | NM_152565: c.G649A: p.D217N | 513; LOD: 162 | chr8:87162350 | G | Het | A |
exonic | ARPC1B | non | NM_005720: c.T1049G: p.M350R | 410; LOD: 62 | chr7:98991711 | T | Het | G |
exonic | CUL9 | non | NM_015089: c.C2732T: p.P911L | 463; LOD: 102 | chr6:43164529 | C | Het | T |
exonic | XRN1 | non | NM_001042604: c.A4484G: p.E1495G | 622; LOD: 449 | chr3:142037663 | T | Het | C |