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Results for "HYDIN"

Variant Events: 379

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
HYDIN     PN400259chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400407chr16:
70902541-70902541		GAexonicUnknownnonsynonymous SNVNM_001270974c.C11242Tp.R3748C18.08.328E-6Leblond2019 E
HYDIN     PN400366chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400407chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400219chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400548chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400117chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400219chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400523chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400548chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400219chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400523chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400548chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400470chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400284chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400284chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400587chr16:
70902541-70902541		GAexonicUnknownnonsynonymous SNVNM_001270974c.C11242Tp.R3748C18.08.328E-6Leblond2019 E
HYDIN     PN400117chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400170chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400498chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400117chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400170chr16:
70902541-70902541		GAexonicUnknownnonsynonymous SNVNM_001270974c.C11242Tp.R3748C18.08.328E-6Leblond2019 E
HYDIN     PN400523chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400170chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400284chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400498chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400170chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400498chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400323chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400587chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400410chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400410chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400410chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     SP0069673chr16:
70918025-70918025		GCexonicDe novosynonymous SNVNM_001270974c.C9777Gp.A3259A--Fu2022 E
HYDIN     SP0089919chr16:
70929979-70929979		AGexonicDe novononsynonymous SNVNM_001270974c.T9053Cp.L3018S5.85-Fu2022 E
Zhou2022 GE
HYDIN     PN400260chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     SP0087684chr16:
71264370-71264370		CTintronicDe novo--Fu2022 E
HYDIN     SP0077443chr16:
70902780-70902780		GAintronicDe novo--Fu2022 E
HYDIN     PN400524chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400285chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400118chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400285chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400551chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400171chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400171chr16:
70902541-70902541		GAexonicUnknownnonsynonymous SNVNM_001270974c.C11242Tp.R3748C18.08.328E-6Leblond2019 E
HYDIN     PN400285chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400499chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400474chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400118chr16:
70902541-70902541		GAexonicUnknownnonsynonymous SNVNM_001270974c.C11242Tp.R3748C18.08.328E-6Leblond2019 E
HYDIN     PN400171chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400171chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400325chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400590chr16:
70902541-70902541		GAexonicUnknownnonsynonymous SNVNM_001270974c.C11242Tp.R3748C18.08.328E-6Leblond2019 E
HYDIN     PN400369chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400476chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400476chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400412chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400412chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400476chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400527chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400286chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400501chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400119chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400286chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400501chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400286chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400501chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400412chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400178chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400326chr16:
71171175-71171175		TAexonicUnknownstopgainNM_001198542
NM_001198543
NM_001270974
NM_017558		c.A1003T
c.A973T
c.A922T
c.A922T		p.K335X
p.K325X
p.K308X
p.K308X		25.7-Leblond2019 E
HYDIN     PN400326chr16:
70902541-70902541		GAexonicUnknownnonsynonymous SNVNM_001270974c.C11242Tp.R3748C18.08.328E-6Leblond2019 E
HYDIN     1-0896-003chr16:
70925122-70925122		CTintronicDe novo--Yuen2017 G
HYDIN     PN400127chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400262chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     F10810-1chr16:
70874073-70874073		AGexonicDe novononsynonymous SNVNM_001270974c.T12937Cp.F4313L27.9-Fu2022 E
HYDIN     PN400262chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     09C95778chr16:
70863608-70863608		GTexonicDe novononsynonymous SNVNM_001270974c.C14025Ap.F4675L11.79-Fu2022 E
HYDIN     PN400127chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400127chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400262chr16:
71171175-71171175		TAexonicUnknownstopgainNM_001198542
NM_001198543
NM_001270974
NM_017558		c.A1003T
c.A973T
c.A922T
c.A922T		p.K335X
p.K325X
p.K308X
p.K308X		25.7-Leblond2019 E
HYDIN     PN400528chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400262chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400528chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400528chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400121chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400330chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400371chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400503chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400121chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400121chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400477chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400287chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400556chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400287chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400556chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400287chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400556chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400231chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400559chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     AU2129303chr16:
70887613-70887613		AGintronicDe novo--Yuen2017 G
HYDIN     PN400504chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400504chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400179chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     80001104634chr16:
70995846-70995846		TCintronicDe novo--Satterstrom2020 E
Trost2022 G
HYDIN     PN400124chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400530chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400372chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400372chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400372chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400332chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400504chr16:
71171175-71171175		TAexonicUnknownstopgainNM_001198542
NM_001198543
NM_001270974
NM_017558		c.A1003T
c.A973T
c.A922T
c.A922T		p.K335X
p.K325X
p.K308X
p.K308X		25.7-Leblond2019 E
HYDIN     PN400332chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400504chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400264chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400332chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400531chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400480chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400557chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400372chr16:
71171175-71171175		TAexonicUnknownstopgainNM_001198542
NM_001198543
NM_001270974
NM_017558		c.A1003T
c.A973T
c.A922T
c.A922T		p.K335X
p.K325X
p.K308X
p.K308X		25.7-Leblond2019 E
HYDIN     PN400289chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400289chr16:
70902541-70902541		GAexonicUnknownnonsynonymous SNVNM_001270974c.C11242Tp.R3748C18.08.328E-6Leblond2019 E
HYDIN     PN400232chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400531chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400531chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400125chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400125chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400125chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400182chr16:
71171175-71171175		TAexonicUnknownstopgainNM_001198542
NM_001198543
NM_001270974
NM_017558		c.A1003T
c.A973T
c.A922T
c.A922T		p.K335X
p.K325X
p.K308X
p.K308X		25.7-Leblond2019 E
HYDIN     PN400182chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400341chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400483chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400483chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400505chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400266chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400341chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     1-0255-003chr16:
70875240-70875240		TCintronicDe novo--Yuen2017 G
HYDIN     PN400266chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400341chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400483chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400417chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400417chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400505chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400417chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400505chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400560chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400292chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400560chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400560chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400266chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400292chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400292chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     2-1510-003chr16:
70843484-70843484		GAintronicDe novo--Yuen2017 G
HYDIN     SSC09943chr16:
70926398-70926398		TAexonicMosaicnonsynonymous SNVNM_001270974c.A9283Tp.N3095Y17.811.0E-4Lim2017 E
HYDIN     PN400240chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400240chr16:
70902541-70902541		GAexonicUnknownnonsynonymous SNVNM_001270974c.C11242Tp.R3748C18.08.328E-6Leblond2019 E
HYDIN     PN400128chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400424chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400506chr16:
70902541-70902541		GAexonicUnknownnonsynonymous SNVNM_001270974c.C11242Tp.R3748C18.08.328E-6Leblond2019 E
HYDIN     PN400128chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400424chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400506chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400128chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400424chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400506chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400100chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     AU031003chr16:
71166676-71166676		CTintronicDe novo--Yuen2017 G
HYDIN     PN400297chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400343chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400562chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400267chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400379chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400484chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400484chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400506chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400267chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400379chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400267chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400379chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400484chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400533chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     AU2863302chr16:
71306022-71306022		GTintergenicDe novo--Yuen2017 G
HYDIN     PN400102chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400102chr16:
70902541-70902541		GAexonicUnknownnonsynonymous SNVNM_001270974c.C11242Tp.R3748C18.08.328E-6Leblond2019 E
HYDIN     PN400190chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400486chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400431chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400507chr16:
70902541-70902541		GAexonicUnknownnonsynonymous SNVNM_001270974c.C11242Tp.R3748C18.08.328E-6Leblond2019 E
HYDIN     PN400431chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400301chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400564chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400564chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400272chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400564chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400129chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400431chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400507chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400534chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400246chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400347chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400246chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     SP0069241chr16:
71008517-71008517		CTexonicnonsynonymous SNVNM_001270974c.G4829Ap.R1610Q11.938.0E-4Zhou2022 GE
HYDIN     PN400246chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400103chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400347chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400194chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400347chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400508chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400487chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     REACH000431chr16:
71264550-71264550		AGexonicnonsynonymous SNVNM_001198542c.T41Cp.L14P10.26-Zhou2022 GE
HYDIN     SP0144484chr16:
71096195-71096195		GAexonicsynonymous SNVNM_001198542
NM_001198543
NM_001270974
NM_017558		c.C2334T
c.C2304T
c.C2253T
c.C2253T		p.T778T
p.T768T
p.T751T
p.T751T		-2.0E-4Zhou2022 GE
HYDIN     PN400434chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400508chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400383chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400508chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400434chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400434chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     AU3617302chr16:
71252597-71252603		ATTTTTTATTTTTTTintronicDe novo--Yuen2017 G
HYDIN     PN400538chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400348chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400348chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400348chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400104chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     SMHC02032s000chr16:
70866872-70866872		TCexonicDe novononsynonymous SNVNM_001270974c.A13778Gp.Y4593C14.85-Yuan2023 E
HYDIN     PN400104chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400104chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     AU4306302chr16:
71062301-71062301		AGintronicDe novo--Yuen2017 G
HYDIN     PN400385chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400195chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400248chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400195chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400248chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400195chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400248chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400488chr16:
70977809-70977809		AATexonicUnknownframeshift insertionNM_001270974c.6574_6575insAp.L2192fs--Leblond2019 E
HYDIN     PN400488chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400277chr16:
70977799-70977799		AATGTGGGGTexonicUnknownframeshift insertionNM_001270974c.6584_6585insACCCCACAp.S2195fs--Leblond2019 E
HYDIN     PN400488chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E
HYDIN     PN400385chr16:
70977811-70977811		CCGAATAATAATAexonicUnknownframeshift insertionNM_001270974c.6572_6573insTATTATTATTCp.W2191fs--Leblond2019 E <