ABCA6
| 3-0385-000 | chr17:
67136812-67136812 | T | G | exonic | | De novo | nonsynonymous SNV | NM_080284 | c.A33C | p.Q11H | 18.39 | - | Tammimies2015
E
| |
| MARCO
| 3-0371-000 | chr2:
119739065-119739065 | G | A | exonic | | De novo | nonsynonymous SNV | NM_006770 | c.G847A | p.G283R | 3.834 | 3.395E-5 | Tammimies2015
E
| |
| PSMD6
| 3-0393-000 | chr3:
63996422-63996422 | C | T | exonic | | De novo | stopgain | NM_001271780
NM_001271781
NM_014814
NM_001271779 | c.G978A
c.G975A
c.G1092A
c.G1251A | p.W326X
p.W325X
p.W364X
p.W417X | 37.0 | - | Tammimies2015
E
| |
| SPARCL1
| 3-0391-000 | chr4:
88412805-88412805 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001291977
NM_004684
NM_001128310
NM_001291976 | c.C881T
c.C1256T
c.C1256T
c.C881T | p.T294M
p.T419M
p.T419M
p.T294M | 10.69 | - | Tammimies2015
E
| |
| SCUBE2
| 3-0402-000 | chr11:
9111335-9111335 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001170690
NM_020974 | c.G175A
c.G175A | p.D59N
p.D59N | 12.93 | 4.119E-5 | Tammimies2015
E
| |
| PCLO
| 3-0393-000 | chr7:
82584377-82584377 | C | T | exonic | | De novo | synonymous SNV | NM_014510
NM_033026 | c.G5892A
c.G5892A | p.T1964T
p.T1964T | - | 4.151E-5 | Tammimies2015
E
| |
| USP3
| 3-0409-000 | chr15:
63824890-63824890 | A | G | exonic | | De novo | nonsynonymous SNV | NM_001256702
NM_006537 | c.A136G
c.A136G | p.S46G
p.S46G | 15.12 | 2.0E-4 | Tammimies2015
E
| |
| LENG9
| 3-0402-000 | chr19:
54973833-54973833 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001301782
NM_198988 | c.C877T
c.C943T | p.P293S
p.P315S | 10.61 | - | Tammimies2015
E
| |
| NAB1
| 3-0409-000 | chr2:
191524448-191524448 | G | A | exonic | | De novo | synonymous SNV | NM_005966 | c.G546A | p.A182A | - | 6.666E-5 | Tammimies2015
E
| |
| NBAS
| 3-0409-000 |
Complex Event; expand row to view variants | | De novo | nonsynonymous SNV, synonymous SNV | NM_015909
NM_015909 | c.C5226T
c.A5225T | p.H1742H
p.H1742L | 21.7 | - | Tammimies2015
E
Tammimies2015
E
| |
| CEP192
| 3-0410-000 | chr18:
13019104-13019104 | A | G | exonic | | De novo | nonsynonymous SNV | NM_032142 | c.A949G | p.S317G | 0.053 | - | Tammimies2015
E
| |
| KRT31
| 3-0410-000 | chr17:
39551867-39551867 | A | G | exonic | | De novo | synonymous SNV | NM_002277 | c.T597C | p.N199N | - | - | Tammimies2015
E
| |
| RORA
| 3-0465-000 | chr15:
60806942-60806945 | TCTC | T | exonic | | De novo | nonframeshift deletion | NM_134262
NM_002943
NM_134261
NM_134260 | c.129_131del
c.369_371del
c.294_296del
c.393_395del | p.43_44del
p.123_124del
p.98_99del
p.131_132del | - | - | Tammimies2015
E
| |
| SLC20A2
| 3-0410-000 | chr8:
42287662-42287662 | T | C | exonic | | De novo | synonymous SNV | NM_001257180
NM_001257181
NM_006749 | c.A1629G
c.A1629G
c.A1629G | p.G543G
p.G543G
p.G543G | - | - | Tammimies2015
E
| |
| LVRN
| 3-0503-000 | chr5:
115323514-115323514 | G | C | exonic | | De novo | nonsynonymous SNV | NM_173800 | c.G983C | p.R328P | 16.25 | - | Tammimies2015
E
| |
| GPR171
| 3-0469-000 | chr3:
150916649-150916649 | A | G | exonic | | De novo | synonymous SNV | NM_013308 | c.T525C | p.N175N | - | 1.656E-5 | Tammimies2015
E
| |
| LRP6
| 3-0504-000 | chr12:
12288208-12288208 | C | T | exonic | | De novo | nonsynonymous SNV | NM_002336 | c.G3634A | p.G1212S | 34.0 | - | Tammimies2015
E
| |
| HTR5A
| 3-0503-000 | chr7:
154876164-154876164 | C | A | exonic | | De novo | nonsynonymous SNV | NM_024012 | c.C1041A | p.S347R | 15.69 | - | Tammimies2015
E
| |
| SLITRK5
| 3-0027-000 | chr13:
88329338-88329338 | G | A | exonic | | Maternal | stopgain | NM_015567 | c.G1695A | p.W565X | 38.0 | - | Tammimies2015
E
| |
| DPY19L4
| 3-0504-000 | chr8:
95774047-95774047 | G | A | exonic | | De novo | synonymous SNV | NM_181787 | c.G855A | p.V285V | 0.093 | - | Tammimies2015
E
| |
| TCF12
| 3-0459-000 | chr15:
57535740-57535740 | C | CG | exonic | | Maternal | frameshift insertion | NM_001306220
NM_001306219
NM_207040
NM_003205
NM_207036
NM_207037
NM_207038 | c.398_399insG
c.596_597insG
c.596_597insG
c.1106_1107insG
c.1106_1107insG
c.1106_1107insG
c.1106_1107insG | p.P133fs
p.P199fs
p.P199fs
p.P369fs
p.P369fs
p.P369fs
p.P369fs | - | - | Tammimies2015
E
| |
| FGFR2
| 3-0211-000 | chr10:
123258119-123258119 | T | C | exonic | | Paternal | nonsynonymous SNV | NM_001144914
NM_001144916
NM_001144917
NM_001144918
NM_023029
NM_001144913
NM_001144915
NM_001144919
NM_000141
NM_022970 | c.A1226G
c.A1217G
c.A1214G
c.A1211G
c.A1295G
c.A1565G
c.A1295G
c.A1298G
c.A1562G
c.A1565G | p.D409G
p.D406G
p.D405G
p.D404G
p.D432G
p.D522G
p.D432G
p.D433G
p.D521G
p.D522G | 13.68 | 2.472E-5 | Tammimies2015
E
| |
| ARHGAP31
| 3-0025-000 | chr3:
119109669-119109669 | C | T | exonic | | De novo | synonymous SNV | NM_020754 | c.C720T | p.A240A | - | - | Tammimies2015
E
| |
| GBF1
| 3-0005-000 | chr10:
104129511-104129511 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001199378
NM_001199379
NM_004193 | c.G3194A
c.G3191A
c.G3191A | p.R1065Q
p.R1064Q
p.R1064Q | 25.7 | 2.472E-5 | Tammimies2015
E
| |
| RYR1
| 3-0027-000 | chr19:
39025386-39025386 | C | T | exonic | | De novo | synonymous SNV | NM_001042723
NM_000540 | c.C11271T
c.C11286T | p.L3757L
p.L3762L | - | - | Tammimies2015
E
| |
| MUC15
| 3-0027-000 | chr11:
26587227-26587227 | T | C | exonic | | De novo | nonsynonymous SNV | NM_145650
NM_001135091
NM_001135092 | c.A179G
c.A260G
c.A260G | p.E60G
p.E87G
p.E87G | 13.53 | - | Tammimies2015
E
| |
| ACE
| 3-0031-000 | chr17:
61559006-61559022 | TCTGGGAAGGGTCGATG | T | exonic | | De novo | frameshift deletion | NM_000789 | c.1026_1041del | p.F342fs | - | - | Tammimies2015
E
| |
| OR5F1
| 3-0031-000 | chr11:
55761926-55761926 | A | G | exonic | | De novo | nonsynonymous SNV | NM_003697 | c.T176C | p.M59T | 13.83 | - | Tammimies2015
E
| |
| EPCAM
| 3-0058-000 | chr2:
47612316-47612316 | A | G | exonic | | De novo | synonymous SNV | NM_002354 | c.A870G | p.R290R | - | - | Tammimies2015
E
| |
| ADSS
| 3-0053-000 | chr1:
244587309-244587309 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001126 | c.G527A | p.R176Q | 36.0 | - | Tammimies2015
E
| |
| SCAF1
| 3-0059-000 | chr19:
50156162-50156162 | T | C | exonic | | De novo | nonsynonymous SNV | NM_021228 | c.T2516C | p.V839A | 13.08 | - | Tammimies2015
E
| |
| PRMT7
| 3-0058-000 | chr16:
68389650-68389650 | A | G | exonic | | De novo | nonsynonymous SNV | NM_001184824
NM_001290018
NM_019023 | c.A1525G
c.A1675G
c.A1675G | p.R509G
p.R559G
p.R559G | 15.72 | - | Tammimies2015
E
| |
| DCHS1
| 3-0075-000 | chr11:
6644563-6644563 | G | A | exonic | | De novo | nonsynonymous SNV | NM_003737 | c.C8344T | p.R2782W | 12.23 | 7.572E-5 | Tammimies2015
E
| |
| OR2M5
| 3-0070-000 | chr1:
248309147-248309147 | G | C | exonic | | De novo | nonsynonymous SNV | NM_001004690 | c.G698C | p.G233A | 8.864 | - | Tammimies2015
E
| |
| ADNP2
| 3-0080-000 | chr18:
77895382-77895382 | T | G | exonic | | De novo | nonsynonymous SNV | NM_014913 | c.T2086G | p.C696G | 16.22 | - | Tammimies2015
E
| |
| PRR14L
| 3-0075-000 | chr22:
32112105-32112105 | T | C | exonic | | De novo | nonsynonymous SNV | NM_173566 | c.A1720G | p.S574G | 15.74 | - | Tammimies2015
E
| |
| ESPNL
| 3-0094-000 | chr2:
239040083-239040083 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001308370
NM_194312 | c.G1624A
c.G2728A | p.A542T
p.A910T | 18.45 | 1.078E-5 | Tammimies2015
E
| |
| USP51
| 3-0080-000 | chrX:
55513637-55513637 | G | A | exonic | | De novo | nonsynonymous SNV | NM_201286 | c.C1736T | p.S579F | 14.78 | - | Tammimies2015
E
| |
| KIF27
| 3-0096-000 | chr9:
86518307-86518307 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001271927
NM_001271928
NM_017576 | c.G1126A
c.G1126A
c.G1126A | p.G376S
p.G376S
p.G376S | 0.014 | 8.238E-6 | Tammimies2015
E
| |
| WAC
| 3-0095-000 | chr10:
28879726-28879736 | TGCAAGCAACA | T | exonic | | De novo | frameshift deletion | NM_016628
NM_100264
NM_100486 | c.576_585del
c.441_450del
c.576_585del | p.M192fs
p.M147fs
p.M192fs | - | - | Tammimies2015
E
Tammimies2015
E
| |
| FAXC
| 3-0101-000 | chr6:
99771430-99771430 | G | A | exonic | | De novo | nonsynonymous SNV | NM_032511 | c.C713T | p.T238M | 14.96 | 1.65E-5 | Tammimies2015
E
| |
| LMX1B
| 3-0096-000 | chr9:
129458577-129458577 | C | T | exonic | | De novo | synonymous SNV | NM_001174146
NM_001174147
NM_002316 | c.C1068T
c.C1056T
c.C1035T | p.N356N
p.N352N
p.N345N | - | 8.269E-6 | Tammimies2015
E
| |
| TDRD1
| 3-0109-000 | chr10:
115973247-115973247 | G | A | exonic | | De novo | synonymous SNV | NM_198795 | c.G1974A | p.T658T | - | 1.648E-5 | Tammimies2015
E
| |
| ARMC4
| 3-0109-000 | chr10:
28149756-28149756 | T | A | exonic | | De novo | nonsynonymous SNV | NM_001290021
NM_001312689
NM_001290020
NM_018076 | c.A1394T
c.A1895T
c.A2819T
c.A2819T | p.H465L
p.H632L
p.H940L
p.H940L | 3.888 | - | Tammimies2015
E
| |
| FBP2
| 3-0109-000 | chr9:
97333814-97333814 | G | A | exonic | | De novo | nonsynonymous SNV | NM_003837 | c.C497T | p.A166V | 22.1 | 2.0E-4 | Tammimies2015
E
| |
| SPEF2
| 3-0109-000 | chr5:
35740319-35740319 | G | A | exonic | | De novo | nonsynonymous SNV | NM_024867 | c.G3280A | p.D1094N | 32.0 | - | Tammimies2015
E
| |
| G3BP1
| 3-0134-000 | chr5:
151166277-151166277 | G | A | splicing | | De novo | splicing | | | | 14.6 | - | Tammimies2015
E
| |
| POTEA
| 3-0111-000 | chr8:
43157164-43157164 | T | C | exonic | | De novo | synonymous SNV | NM_001005365 | c.T744C | p.S248S | - | - | Tammimies2015
E
| |
| GDF2
| 3-0140-000 | chr10:
48414275-48414275 | T | C | exonic | | De novo | nonsynonymous SNV | NM_016204 | c.A593G | p.Q198R | 2.256 | - | Tammimies2015
E
| |
| ASH1L
| 3-0140-000 | chr1:
155324288-155324288 | G | A | exonic | | De novo | stopgain | NM_018489 | c.C7189T | p.R2397X | 51.0 | - | Tammimies2015
E
Tammimies2015
E
| |
| CDK8
| 3-0161-000 | chr13:
26967554-26967554 | A | G | exonic | | De novo | nonsynonymous SNV | NM_001260 | c.A697G | p.I233V | 16.51 | - | Tammimies2015
E
| |
| KLHL18
| 3-0140-000 | chr3:
47376220-47376220 | G | A | exonic | | De novo | nonsynonymous SNV | NM_025010 | c.G809A | p.R270Q | 27.5 | 2.0E-4 | Tammimies2015
E
| |
| TOP2B
| 3-0161-000 | chr3:
25671897-25671897 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001068 | c.C1454T | p.A485V | 35.0 | - | Tammimies2015
E
| |
| PRR19
| 3-0161-000 | chr19:
42813829-42813829 | G | C | exonic | | De novo | nonsynonymous SNV | NM_199285 | c.G93C | p.K31N | 8.564 | - | Tammimies2015
E
| |
| MAST4
| 3-0163-000 | chr5:
66400357-66400357 | G | C | exonic | | De novo | nonsynonymous SNV | NM_001297651
NM_001290226
NM_001290227
NM_015183
NM_001164664 | c.G728C
c.G692C
c.G728C
c.G743C
c.G1310C | p.R243P
p.R231P
p.R243P
p.R248P
p.R437P | 25.0 | 2.536E-5 | Tammimies2015
E
| |
| MTHFSD
| 3-0163-000 | chr16:
86585881-86585881 | G | C | exonic | | De novo | synonymous SNV | NM_001159378
NM_001159379 | c.C141G
c.C138G | p.A47A
p.A46A | - | 1.635E-5 | Tammimies2015
E
| |
| INPP5F
| 3-0186-000 | chr10:
121579002-121579002 | C | G | exonic | | De novo | nonsynonymous SNV | NM_001243194 | c.C7G | p.H3D | 13.96 | - | Tammimies2015
E
| |
| RGS12
| 3-0178-000 | chr4:
3317988-3317988 | G | C | exonic | | De novo | nonsynonymous SNV | NM_002926
NM_198229 | c.G91C
c.G91C | p.G31R
p.G31R | 18.19 | - | Tammimies2015
E
| |
| TNRC6B
| 3-0191-000 | chr22:
40660882-40660882 | C | G | exonic | | De novo | synonymous SNV | NM_001162501
NM_015088 | c.C648G
c.C648G | p.T216T
p.T216T | - | - | Tammimies2015
E
| |
| GOLPH3L
| 3-0186-000 | chr1:
150636154-150636154 | T | C | exonic | | De novo | nonsynonymous SNV | NM_018178 | c.A269G | p.Y90C | 4.834 | 8.244E-6 | Tammimies2015
E
| |
| PZP
| 3-0209-000 | chr12:
9317793-9317793 | C | G | exonic | | De novo | nonsynonymous SNV | NM_002864 | c.G2429C | p.R810P | 8.349 | - | Tammimies2015
E
| |
| TALDO1
| 3-0209-000 | chr11:
760129-760129 | T | C | exonic | | De novo | nonsynonymous SNV | NM_006755 | c.T337C | p.F113L | 22.8 | - | Tammimies2015
E
| |
| MARK1
| 3-0215-000 | chr1:
220835359-220835359 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001286128
NM_001286126
NM_001286124
NM_018650 | c.G2128A
c.G2194A
c.G2242A
c.G2239A | p.A710T
p.A732T
p.A748T
p.A747T | 20.4 | 2.0E-4 | Tammimies2015
E
| |
| TRIOBP
| 3-0209-000 |
Complex Event; expand row to view variants | | De novo | nonsynonymous SNV | NM_001039141
NM_001039141 | c.T5102G
c.C5101G | p.L1701R
p.L1701V | 12.83 | - | Tammimies2015
E
Tammimies2015
E
| |
| LDLR
| 3-0223-000 | chr19:
11213417-11213417 | G | A | exonic | | De novo | nonsynonymous SNV | NM_000527
NM_001195798
NM_001195800
NM_001195803 | c.G268A
c.G268A
c.G268A
c.G268A | p.D90N
p.D90N
p.D90N
p.D90N | 23.1 | 4.942E-5 | Tammimies2015
E
| |
| ABLIM1
| 3-0215-000 | chr10:
116233698-116233698 | C | T | exonic | | De novo | synonymous SNV | NM_006720
NM_001003407
NM_002313
NM_001003408 | c.G195A
c.G879A
c.G1059A
c.G963A | p.S65S
p.S293S
p.S353S
p.S321S | 5.776 | - | Tammimies2015
E
| |
| KIAA1024
| 3-0227-000 | chr15:
79750338-79750338 | C | T | exonic | | De novo | nonsynonymous SNV | NM_015206 | c.C1849T | p.R617C | 17.56 | 1.649E-5 | Tammimies2015
E
| |
| AREL1
| 3-0227-000 | chr14:
75151252-75151253 | CG | C | exonic | | De novo | stopgain | NM_001039479 | c.147delC | p.Y49X | - | - | Tammimies2015
E
| |
| HIST1H2AD
| 3-0227-000 | chr6:
26199346-26199346 | C | T | exonic | | De novo | synonymous SNV | NM_021065 | c.G126A | p.E42E | - | - | Tammimies2015
E
| |
| PHKB
| 3-0227-000 | chr16:
47614206-47614206 | C | G | exonic | | De novo | nonsynonymous SNV | NM_000293
NM_001031835 | c.C711G
c.C690G | p.S237R
p.S230R | 14.05 | - | Tammimies2015
E
| |
| ACSL5
| 3-0253-000 | chr10:
114170349-114170349 | G | A | exonic | | De novo | nonsynonymous SNV | NM_016234
NM_203379
NM_203380 | c.G920A
c.G752A
c.G752A | p.S307N
p.S251N
p.S251N | 13.02 | - | Tammimies2015
E
| |
| CUL7
| 3-0227-000 | chr6:
43018958-43018958 | G | A | exonic | | De novo | synonymous SNV | NM_001168370
NM_014780 | c.C1233T
c.C981T | p.P411P
p.P327P | - | 2.0E-4 | Tammimies2015
E
| |
| ATG4B
| 3-0254-000 | chr2:
242611640-242611640 | C | T | exonic | | De novo | synonymous SNV | NM_013325 | c.C1143T | p.F381F | - | 9.413E-5 | Tammimies2015
E
| |
| EFTUD2
| 3-0254-000 | chr17:
42932002-42932002 | C | T | exonic | | De novo | synonymous SNV | NM_001142605
NM_001258353
NM_001258354
NM_004247 | c.G2076A
c.G2181A
c.G2151A
c.G2181A | p.L692L
p.L727L
p.L717L
p.L727L | - | - | Tammimies2015
E
| |
| NAGA
| 3-0262-000 | chr22:
42463262-42463262 | G | A | exonic | | De novo | synonymous SNV | NM_000262 | c.C357T | p.Y119Y | - | - | Tammimies2015
E
| |
| SCN2A
| 3-0261-000 | chr2:
166237202-166237202 | G | C | exonic | | De novo | nonsynonymous SNV | NM_001040143
NM_001040142
NM_021007 | c.G4409C
c.G4409C
c.G4409C | p.G1470A
p.G1470A
p.G1470A | 26.1 | - | Tammimies2015
E
Tammimies2015
E
| |
| HIST1H2BJ
| 3-0270-000 | chr6:
27100214-27100214 | C | A | exonic | | De novo | stopgain | NM_021058 | c.G316T | p.E106X | 15.51 | - | Tammimies2015
E
| |
| SERINC5
| 3-0262-000 | chr5:
79465157-79465157 | C | T | splicing | | De novo | splicing | | | | 14.57 | 8.289E-6 | Tammimies2015
E
| |
| COL28A1
| 3-0270-000 | chr7:
7514248-7514248 | G | C | exonic | | De novo | stopgain | NM_001037763 | c.C1286G | p.S429X | 39.0 | - | Tammimies2015
E
| |
| ZDHHC14
| 3-0270-000 | chr6:
158094104-158094104 | T | C | exonic | | De novo | nonsynonymous SNV | NM_024630
NM_153746 | c.T1417C
c.T1372C | p.S473P
p.S458P | 18.32 | - | Tammimies2015
E
| |
| PDIA5
| 3-0309-000 | chr3:
122864390-122864390 | T | C | exonic | | De novo | nonsynonymous SNV | NM_006810 | c.T932C | p.M311T | 22.6 | 4.119E-5 | Tammimies2015
E
| |
| TRIM23
| 3-0294-000 | chr5:
64892877-64892877 | C | T | splicing | | De novo | splicing | | | | 31.0 | - | Tammimies2015
E
| |
| NCK2
| 3-0312-000 | chr2:
106471675-106471675 | G | A | exonic | | De novo | synonymous SNV | NM_001004720
NM_001004722
NM_003581 | c.G156A
c.G156A
c.G156A | p.P52P
p.P52P
p.P52P | - | 4.382E-5 | Tammimies2015
E
| |
| GMPS
| 3-0309-000 | chr3:
155615774-155615774 | G | T | exonic | | De novo | nonsynonymous SNV | NM_003875 | c.G268T | p.D90Y | 29.0 | - | Tammimies2015
E
| |
| OR4E2
| 3-0314-000 | chr14:
22133323-22133323 | G | T | exonic | | De novo | synonymous SNV | NM_001001912 | c.G27T | p.V9V | - | - | Tammimies2015
E
| |
| ELMOD1
| 3-0314-000 | chr11:
107501449-107501449 | A | C | exonic | | De novo | nonsynonymous SNV | NM_001130037
NM_018712
NM_001308018 | c.A187C
c.A187C
c.A169C | p.S63R
p.S63R
p.S57R | 12.35 | - | Tammimies2015
E
| |
| STOML2
| 3-0318-000 | chr9:
35101724-35101724 | G | A | exonic | | De novo | synonymous SNV | NM_001287033
NM_001287031
NM_001287032
NM_013442 | c.C289T
c.C427T
c.C274T
c.C427T | p.L97L
p.L143L
p.L92L
p.L143L | - | - | Tammimies2015
E
| |
| FAM120B
| 3-0314-000 | chr6:
170632250-170632250 | C | G | exonic | | De novo | synonymous SNV | NM_001286379
NM_001286380
NM_032448 | c.C1854G
c.C1887G
c.C1818G | p.T618T
p.T629T
p.T606T | - | - | Tammimies2015
E
| |
| TPM3
| 3-0329-000 | chr1:
154143940-154143940 | C | T | exonic | | De novo | synonymous SNV | NM_001043351
NM_001043353
NM_001278191
NM_152263 | c.G480A
c.G480A
c.G210A
c.G591A | p.E160E
p.E160E
p.E70E
p.E197E | - | - | Tammimies2015
E
| |
| XIRP2
| 3-0325-000 | chr2:
168103257-168103257 | T | C | exonic | | De novo | synonymous SNV | NM_001199144
NM_152381 | c.T4689C
c.T5355C | p.V1563V
p.V1785V | - | - | Tammimies2015
E
| |
| PTPN13
| 3-0330-000 | chr4:
87705691-87705691 | C | A | exonic | | De novo | nonsynonymous SNV | NM_080684
NM_006264
NM_080683
NM_080685 | c.C5525A
c.C6041A
c.C6098A
c.C6113A | p.P1842Q
p.P2014Q
p.P2033Q
p.P2038Q | 0.028 | - | Tammimies2015
E
| |
| IGLL5
| 3-0330-000 | chr22:
23230296-23230296 | G | C | exonic | | De novo | nonsynonymous SNV | NM_001178126 | c.G63C | p.R21S | 10.25 | - | Tammimies2015
E
| |
| PEX11G
| 3-0338-000 | chr19:
7553881-7553881 | C | A | exonic | | De novo | nonsynonymous SNV | NM_001270539
NM_080662 | c.G16T
c.G16T | p.G6C
p.G6C | 18.07 | - | Tammimies2015
E
| |
| RFX6
| 3-0330-000 | chr6:
117248533-117248533 | C | A | exonic | | De novo | nonsynonymous SNV | NM_173560 | c.C2229A | p.S743R | 15.05 | - | Tammimies2015
E
| |
| TANGO2
| 3-0368-000 | chr22:
20050958-20050958 | G | A | exonic | | De novo | nonsynonymous SNV | NM_001283179
NM_001283186
NM_001283199
NM_001283235
NM_001283116
NM_001283129
NM_001283148
NM_001283154
NM_152906
NM_001283106 | c.G517A
c.G517A
c.G478A
c.G409A
c.G703A
c.G826A
c.G701A
c.G701A
c.G703A
c.G703A | p.G173S
p.G173S
p.G160S
p.G137S
p.G235S
p.G276S
p.R234Q
p.R234Q
p.G235S
p.G235S | 27.5 | 8.747E-6 | Tammimies2015
E
| |
| MCM8
| 3-0338-000 | chr20:
5933076-5933076 | C | T | exonic | | De novo | nonsynonymous SNV | NM_001281520
NM_001281521
NM_001281522
NM_032485
NM_182802 | c.C155T
c.C155T
c.C155T
c.C155T
c.C155T | p.T52I
p.T52I
p.T52I
p.T52I
p.T52I | 11.09 | 8.315E-6 | Tammimies2015
E
| |