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Exact

Results for "EYS"

Variant Events: 245

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
EYS     MT_155.3chr6:
65659155-65659155
CTintronicDe novo--Trost2022 G
EYS     7-0365-003chr6:
65685543-65685543
GCintronicDe novo--Trost2022 G
EYS     1-1063-004chr6:
65658400-65658400
TCintronicDe novo--Trost2022 G
EYS     3-0456-000chr6:
65926693-65926702
ATATATTATAATATAintronicDe novo--Yuen2017 G
EYS     AU3712302chr6:
66445067-66445067
TCintergenicDe novo--Yuen2017 G
EYS     MSSNG00352-003chr6:
65658506-65658506
AGintronicDe novo--Trost2022 G
EYS     1-1070-003chr6:
65614633-65614633
TCintronicDe novo--Trost2022 G
EYS     AU024105chr6:
65636831-65636831
AATintronicDe novo--Trost2022 G
EYS     2-1521-003chr6:
64723150-64723150
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     7-0273-003chr6:
65116713-65116713
AGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU2320301chr6:
65537262-65537262
ATintronicDe novo--Trost2022 G
EYS     AU2320301chr6:
65542743-65542743
GAintronicDe novo--Trost2022 G
EYS     AU055603chr6:
65808553-65808553
CGintronicDe novo--Trost2022 G
EYS     2-0142-004chr6:
65759428-65759428
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU2310301chr6:
65811470-65811470
TGintronicDe novo--Trost2022 G
EYS     3-0708-000chr6:
65783602-65783602
GTintronicDe novo--Trost2022 G
EYS     L7H6W_01chr6:
65804084-65804084
CTintronicDe novo--Trost2022 G
EYS     3-0197-000chr6:
65775509-65775509
CAintronicDe novo--Trost2022 G
EYS     7-0356-003chr6:
65779366-65779366
GAintronicDe novo--Trost2022 G
EYS     1-1134-004chr6:
65710857-65710857
CTintronicDe novo--Trost2022 G
EYS     1-0549-003chr6:
65726435-65726435
AGintronicDe novo--Trost2022 G
EYS     AU072004chr6:
64977549-64977549
TGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     5-5020-003chr6:
65959615-65959615
TCintronicDe novo--Trost2022 G
EYS     MSSNG00362-004chr6:
65999339-65999339
TCintronicDe novo--Trost2022 G
EYS     2-1774-003chr6:
65931807-65931807
TCintronicDe novo--Trost2022 G
EYS     1-0265-003chr6:
65950017-65950019
ACAGCGintronicDe novo--Trost2022 G
EYS     7-0135-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
EYS     AU2310301chr6:
65915989-65915989
ACintronicDe novo--Trost2022 G
EYS     2-0240-004chr6:
66446989-66446989
AGintergenicDe novo--Yuen2017 G
EYS     AU3399303chr6:
65636535-65636535
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU2310301chr6:
65918179-65918179
AGintronicDe novo--Trost2022 G
EYS     MSSNG00002-003chr6:
65824367-65824367
TAintronicDe novo--Trost2022 G
EYS     1-0522-003chr6:
65950286-65950286
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU030703chr6:
65742679-65742679
GTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     MSSNG00231-003chr6:
65854509-65854509
CTintronicDe novo--Trost2022 G
EYS     4-0064-003chr6:
66171408-66171408
CTintronicDe novo--Trost2022 G
EYS     MSSNG00327-003chr6:
66192680-66192680
TGintronicDe novo--Trost2022 G
EYS     2-0205-003chr6:
66124524-66124524
TAintronicDe novo--Trost2022 G
EYS     4-0069-003chr6:
66144415-66144415
AGintronicDe novo--Trost2022 G
EYS     1-0182-003chr6:
66095482-66095482
CTintronicDe novo--Trost2022 G
EYS     AU4024303chr6:
66481049-66481049
CTintergenicDe novo--Yuen2017 G
EYS     MT_45.3chr6:
66111821-66111821
ATintronicDe novo--Trost2022 G
EYS     1-0965-003chr6:
66087761-66087761
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     REACH000293chr6:
66000746-66000746
TAintronicDe novo--Trost2022 G
EYS     1-0944-003chr6:
66051123-66051123
ACintronicDe novo--Trost2022 G
EYS     1-0952-003chr6:
66290640-66290640
AGintronicDe novo--Trost2022 G
EYS     AU2320301chr6:
66293622-66293622
GTintronicDe novo--Trost2022 G
EYS     2-1784-003chr6:
66269877-66269878
CACintronicDe novo--Trost2022 G
EYS     3-0497-001chr6:
66290140-66290140
TCintronicDe novo--Trost2022 G
EYS     3-0467-000chr6:
66220004-66220004
GAintronicDe novo--Trost2022 G
EYS     MSSNG00055-003chr6:
66220403-66220403
TGintronicDe novo--Trost2022 G
EYS     4-0062-003chr6:
66200992-66200994
CTCAGTintronicDe novo--Trost2022 G
EYS     2-1751-003chr6:
66213070-66213070
TCintronicDe novo--Trost2022 G
EYS     2-0256-004chr6:
66458262-66458272
CATATTCATAACintergenicDe novo--Yuen2017 G
EYS     2-0309-004chr6:
65232960-65232960
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     1-0417-003chr6:
66394586-66394587
CTCintronicDe novo--Trost2022 G
EYS     D4S2Z-01chr6:
66400133-66400133
GCintronicDe novo--Trost2022 G
EYS     1-0731-003chr6:
66353212-66353214
GGGACAintronicDe novo--Trost2022 G
EYS     7-0266-003chr6:
66382738-66382738
GAintronicDe novo--Trost2022 G
EYS     4-0009-003chr6:
66305186-66305186
GTintronicDe novo--Trost2022 G
EYS     3-0059-000chr6:
66342717-66342717
AGintronicDe novo--Trost2022 G
EYS     AU3605303chr6:
65540568-65540568
GTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU024104chr6:
65713126-65713126
GCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     1-0547-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
EYS     AU3918301chr6:
64487319-64487319
GCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU2292301chr6:
66079808-66079808
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     3-0456-000B Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
EYS     AU4260303chr6:
65196476-65196476
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU3846302chr6:
66153047-66153047
AGintronicDe novo--Yuen2017 G
EYS     AU3768302chr6:
64731401-64731401
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU3605304chr6:
65589440-65589440
GAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     3-0065-000chr6:
64556062-64556062
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-0057-004chr6:
66451280-66451280
TGintergenicDe novo--Yuen2017 G
EYS     AU4462302chr6:
64455122-64455122
CGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU4006302chr6:
64512481-64512481
CAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     1-0028-003chr6:
65217870-65217870
GCintronicDe novo--Yuen2017 G
EYS     AU050403chr6:
66448881-66448881
CTintergenicDe novo--Yuen2017 G
EYS     2-1005-003chr6:
66081410-66081410
ACintronicDe novo--Yuen2017 G
EYS     A23chr6:
65634432-65634432
TCintronicDe novo--Wu2018 G
EYS     1-0184-003chr6:
66334012-66334012
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU2075302chr6:
64727292-64727292
CAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU027506chr6:
65919079-65919079
ACintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU2292302chr6:
66079808-66079808
TCintronicDe novo--Yuen2017 G
EYS     AU2525302chr6:
66162008-66162008
AGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-1451-003chr6:
64787638-64787638
GAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU2000304chr6:
65874023-65874023
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-1561-003chr6:
66103632-66103632
CTintronicDe novo--Yuen2017 G
EYS     1-0539-003chr6:
64646089-64646089
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     1-0271-004chr6:
64680920-64680920
CAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     3-0246-000chr6:
65016433-65016433
GCintronicDe novo--Yuen2016 G
EYS     1-0323-004chr6:
65241726-65241726
TTGTAAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-1146-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
EYS     AU057404chr6:
65321650-65321650
AGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-1398-003chr6:
65266360-65266360
GAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU3801301 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
EYS     2-0198-004chr6:
64632185-64632185
GTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-1132-003chr6:
65673767-65673767
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-0198-004chr6:
64628103-64628103
CGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU2000305chr6:
64762897-64762897
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU2787302chr6:
64983830-64983830
AGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     1-0555-003chr6:
66388833-66388833
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU3858302chr6:
66187214-66187214
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-0295-004chr6:
66201018-66201018
AGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     5-0129-003chr6:
65537207-65537207
TGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU2089301chr6:
64541702-64541702
TGintronicDe novo--Yuen2017 G
EYS     AU2089301chr6:
64541680-64541680
TCintronicDe novo--Yuen2017 G
EYS     AU4056302 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
EYS     SP0046927chr6:
64499106-64499106
CGexonicDe novononsynonymous SNVNM_001142800
NM_001292009
c.G7423C
c.G7423C
p.D2475H
p.D2475H
17.84-Fu2022 E
Trost2022 G
Zhou2022 GE
EYS     AU4159302chr6:
65152258-65152258
AGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     SP0137614chr6:
65300477-65300477
AGexonicDe novosynonymous SNVNM_001142800
NM_001292009
c.T5283C
c.T5283C
p.Y1761Y
p.Y1761Y
--Fu2022 E
Trost2022 G
Zhou2022 GE
EYS     2-1334-003chr6:
64672173-64672173
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
EYS     1-0006-004chr6:
66149312-66149312
GAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     1-0259-003chr6:
65739172-65739172
AAAGAGTTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU024607chr6:
66342932-66342932
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-0223-004chr6:
64948981-64948981
TGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     13096.p1chr6:
65146093-65146093
GAexonicDe novosynonymous SNVNM_001142800
NM_001292009
c.C5901T
c.C5901T
p.N1967N
p.N1967N
--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
EYS     AU2458303chr6:
65838231-65838231
GAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU034904chr6:
65548839-65548839
TCintronicDe novo--Yuen2017 G
EYS     AU2293302chr6:
65653053-65653053
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-0198-005chr6:
64632185-64632185
GTintronicDe novo--Yuen2017 G
EYS     2-0198-005chr6:
64628103-64628103
CGintronicDe novo--Yuen2017 G
EYS     7-0248-003chr6:
65189597-65189597
TAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU2569303chr6:
64652466-64652466
AGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU3881302chr6:
64886325-64886325
TAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     5-0105-003chr6:
65826461-65826461
ACintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-1436-003chr6:
65677179-65677179
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-0045-003chr6:
64634412-64634412
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
EYS     1-0186-005chr6:
65105663-65105663
ACintronicDe novo--Yuen2017 G
EYS     1-0203-003chr6:
65753034-65753034
TAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     1-0043-003chr6:
65704066-65704066
GAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-1617-003chr6:
64457033-64457033
GTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     7-0077-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
EYS     AU046703chr6:
64752413-64752413
GAintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU3645301chr6:
66435111-66435111
AGintergenicDe novo--Yuen2017 G
EYS     AU3692301chr6:
66235529-66235529
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     1-0972-003chr6:
64989418-64989418
CGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     1-0051-004chr6:
66333134-66333134
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     1-0051-004chr6:
64620060-64620060
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     7-0148-003chr6:
65074724-65074724
AGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     A2chr6:
66301982-66301982
CTintronicDe novo--Wu2018 G
EYS     SP0001470chr6:
64488058-64488058
ATexonicDe novononsynonymous SNVNM_001142800
NM_001292009
c.T7739A
c.T7739A
p.L2580H
p.L2580H
11.34-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
EYS     AU3874301chr6:
65375587-65375587
CGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     1-0804-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
EYS     AU4072303chr6:
66003786-66003786
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-0145-004chr6:
65768338-65768338
CGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     A2chr6:
64859267-64859267
CTintronicDe novo--Wu2018 G
EYS     2-1366-003chr6:
64503985-64503985
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     1-0566-003chr6:
64503084-64503084
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU4233301chr6:
65769131-65769131
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU3790301chr6:
64760126-64760126
TGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-1455-003chr6:
65641812-65641812
GAintronicDe novo--Yuen2016 G
EYS     2-0286-004chr6:
64449826-64449826
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     AU3646301chr6:
65448541-65448541
CGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-1106-004chr6:
64523021-64523021
GTintronicDe novo--Trost2022 G
EYS     5-5038-003chr6:
64529875-64529875
TGintronicDe novo--Trost2022 G
EYS     AU2100302chr6:
65297214-65297214
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     7-0411-003chr6:
64481498-64481498
GAintronicDe novo--Trost2022 G
EYS     7-0402-003chr6:
64502188-64502188
TCintronicDe novo--Trost2022 G
EYS     14590.p1chr6:
64705617-64705617
CTintronicDe novo--Turner2016 G
EYS     2-0070-004chr6:
65544625-65544625
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     12449.p1chr6:
65895372-65895372
TCintronicDe novo--Turner2016 G
EYS     7-0364-003chr6:
64471686-64471689
TTTCTintronicDe novo--Trost2022 G
EYS     5-5231-003chr6:
64707473-64707473
CTintronicDe novo--Trost2022 G
EYS     AU055603chr6:
64710004-64710004
TGintronicDe novo--Trost2022 G
EYS     14637.p1chr6:
66163992-66163992
CTintronicDe novo--Turner2016 G
EYS     7-0311-003chr6:
64674487-64674487
GTintronicDe novo--Trost2022 G
EYS     13171.p1chr6:
66180206-66180206
TAintronicDe novo--Turner2016 G
EYS     MSSNG00251-003chr6:
64692909-64692909
TGintronicDe novo--Trost2022 G
EYS     AU1308303chr6:
65033812-65033812
ACintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-1540-003chr6:
64643567-64643567
CTintronicDe novo--Trost2022 G
EYS     2-1085-004chr6:
66409994-66409994
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     3-0080-000chr6:
66256825-66256825
GAintronicDe novo--Yuen2016 G
Yuen2017 G
EYS     4-0062-003chr6:
64663237-64663239
TTCCCTintronicDe novo--Trost2022 G
EYS     AU4012302 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
EYS     10-0001-003chr6:
64539608-64539609
TGTintronicDe novo--Trost2022 G
EYS     AU2817301chr6:
64583582-64583582
TCintronicDe novo--Trost2022 G
EYS     4-0073-003chr6:
64845447-64845448
GGTTintronicDe novo--Trost2022 G
EYS     2-1567-003chr6:
65589545-65589545
TCintronicDe novo--Trost2022 G
Yuen2017 G
EYS     2-0162-003chr6:
64878436-64878436
TCintronicDe novo--Trost2022 G
EYS     3-0497-000chr6:
64835547-64835547
TCintronicDe novo--Trost2022 G
EYS     3-0007-000chr6:
64839145-64839145
TCintronicDe novo--Trost2022 G
EYS     3-0497-000chr6:
64835541-64835541
TCintronicDe novo--Trost2022 G
EYS     3-0497-001chr6:
64835547-64835547
TCintronicDe novo--Trost2022 G
EYS     1-1162-003chr6:
64786610-64786613
CTCTCintronicDe novo--Trost2022 G
EYS     AU4237301chr6:
64558058-64558058
GAintronicDe novo--Yuen2017 G
EYS     4-0098-003chr6:
64815602-64815602
CTintronicDe novo--Trost2022 G
EYS     2-0238-004chr6:
65354019-65354019
CTintronicDe novo--Trost2022 G
Yuen2017 G
EYS     MSSNG00125-003chr6:
65048383-65048383
CGintronicDe novo--Trost2022 G
EYS     MSSNG00436-003chr6:
65050000-65050000
GTintronicDe novo--Trost2022 G
EYS     2-1427-003chr6:
64443822-64443822
AGintronicDe novo--Trost2022 G
Yuen2017 G
EYS     REACH000026chr6:
64942132-64942132
AGintronicDe novo--Trost2022 G
EYS     1-0518-003chr6:
65000841-65000841
CAintronicDe novo--Trost2022 G
EYS     MT_184.3chr6:
64909058-64909058
GAintronicDe novo--Trost2022 G
EYS     3-0723-000chr6:
64909496-64909496
TAintronicDe novo--Trost2022 G
EYS     AU3839303chr6:
66487885-66487885
CTintergenicDe novo--Yuen2017 G
EYS     5-0058-003chr6:
64890421-64890421
GAintronicDe novo--Trost2022 G
EYS     AU2320301chr6:
64902266-64902266
CTintronicDe novo--Trost2022 G
EYS     AU070703chr6:
65121845-65121845
CAintronicDe novo--Trost2022 G
EYS     7-0254-004chr6:
65132138-65132138
CTintronicDe novo--Trost2022 G
EYS     2-1764-003chr6:
65121844-65121844
GTintronicDe novo--Trost2022 G
EYS     7-0097-003chr6:
65121845-65121845
CAintronicDe novo--Trost2022 G
EYS     2-1232-003chr6:
65062530-65062534
TTGAATintronicDe novo--Trost2022 G
EYS     3-0465-000chr6:
65105308-65105308
ACintronicDe novo--Trost2022 G
EYS     MSSNG00052-003chr6:
65061560-65061560
TTCintronicDe novo--Trost2022 G
EYS     AU3190305chr6:
66310822-66310822
ACintronicDe novo--Trost2022 G
Yuen2017 G
EYS     MSSNG00052-003chr6:
65061563-65061563
TCintronicDe novo--Trost2022 G
EYS     SSC07063chr6:
65146093-65146093
GAexonicDe novosynonymous SNVNM_001142800
NM_001292009
c.C5901T
c.C5901T
p.N1967N
p.N1967N
--Fu2022 E
Lim2017 E
Trost2022 G
EYS     MSSNG00360-004chr6:
65211082-65211082
AGintronicDe novo--Trost2022 G
EYS     5-5237-005chr6:
65220852-65220852
TCintronicDe novo--Trost2022 G
EYS     AU055603chr6:
65174620-65174620
TGintronicDe novo--Trost2022 G
EYS     2-1349-003chr6:
65208925-65208925
GAintronicDe novo--Trost2022 G
EYS     7-0361-003chr6:
65163107-65163107
CTintronicDe novo--Trost2022 G
EYS     3-0099-000chr6:
65170538-65170538
AGintronicDe novo--Trost2022 G
EYS     5-0077-003chr6:
64599341-64599341
AAAGintronicDe novo--Yuen2017 G
EYS     AU1894304chr6:
64822062-64822062
AGintronicDe novo--Yuen2017 G
EYS     7-0410-003chr6:
65136828-65136828
TCintronicDe novo--Trost2022 G
EYS     1-0389-003chr6:
66205041-66205041
AGexonicDe novononsynonymous SNVNM_198283
NM_001142800
NM_001142801
NM_001292009
c.T263C
c.T263C
c.T263C
c.T263C
p.L88P
p.L88P
p.L88P
p.L88P
13.45-Yuen2015 G
EYS     4-0023-003chr6:
65159989-65159989
TCintronicDe novo--Trost2022 G
EYS     1045chr6:
65298511-65298511
AGintronicDe novo--Trost2022 G
EYS     SP0199260chr6:
65301448-65301448
GTexonicDe novononsynonymous SNVNM_001142800
NM_001292009
c.C4312A
c.C4312A
p.L1438I
p.L1438I
10.49-Trost2022 G
EYS     4-0064-003chr6:
65284595-65284595
AGintronicDe novo--Trost2022 G
EYS     AU055603chr6:
65297320-65297320
GAintronicDe novo--Trost2022 G
EYS     1-0760-004chr6:
65253552-65253552
TAintronicDe novo--Trost2022 G
EYS     5-0023-003chr6:
65262637-65262637
CAintronicDe novo--Trost2022 G
EYS     AU2320301chr6:
65232428-65232428
TGintronicDe novo--Trost2022 G
EYS     1-0649-003chr6:
65240044-65240044
CTintronicDe novo--Trost2022 G
EYS     MSSNG00213-003chr6:
65417280-65417280
GTintronicDe novo--Trost2022 G
EYS     2-1205-003chr6:
66198165-66198165
TCintronicDe novo--Yuen2016 G
Yuen2017 G
EYS     5-0009-003chr6:
65438203-65438203
TGintronicDe novo--Trost2022 G </