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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