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Results for "GXYLT1"

Variant Events: 743

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
GXYLT1     PN400548 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400548chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400259chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400259chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400548chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400259 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400548chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400170 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400498 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     AU3915301chr12:
42478152-42478152
TCUTR3De novo--Yuen2017 G
GXYLT1     PN400170chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400498chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400170chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400498chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400170chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400498chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400323chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400323chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400323 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400323chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400410 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400410chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400410chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400410chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400171chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400551chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400171chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400499 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400551chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400171 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400171chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400551 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400499chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400499chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400551chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400499chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400325chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400171chr12:
42538352-42538352
CAexonicUnknownstopgainNM_001099650
NM_173601
c.G97T
c.G97T
p.G33X
p.G33X
27.8-Leblond2019 E
GXYLT1     PN400325chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400325 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400325chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400261chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400412 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400261chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400412chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400261 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400261chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400412chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400412chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400501chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400501chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400326chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400501 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400501chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400178chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400554 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400178chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400554chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400178chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400326chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400326chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400554chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400326 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400554chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400262chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400415chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400262chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400262chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400330 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400330chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400415chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400503chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400415chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400503chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400330chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400503 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400330chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400415 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400503chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400556chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400556chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400556 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400556chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400179chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400416 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400179chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400416chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400179chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400416chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400179 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400416chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400332chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400504 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400264chr12:
42499813-42499816
CGTACexonicUnknownnonframeshift deletionNM_001099650
NM_173601
c.575_577del
c.668_670del
p.192_193del
p.223_224del
--Leblond2019 E
GXYLT1     PN400332chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400504chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400332 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400264chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400264chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400332chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400504chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400264chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400504chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400557chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400557chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400557 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400557chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400417chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400266chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400266chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400341chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400266chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400341chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400417chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400505chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400417chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400505chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400505 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400417 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400505chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400560chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400560chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400560 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400560chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     11946.p1chr12:
42538974-42538974
TCupstreamDe novo--Wilfert2021 G
GXYLT1     PN400266 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400341chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400186chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400186chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400186chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400424chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400506chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400424chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400267chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400424 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400506chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400424chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400506chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400100chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400100chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400100 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400100chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400343chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400343chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400562chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400343chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400562chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400267chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400267chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400506 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400267 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400562 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400343 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400562chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400102 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400190chr12:
42499813-42499816
CGTACexonicUnknownnonframeshift deletionNM_001099650
NM_173601
c.575_577del
c.668_670del
p.192_193del
p.223_224del
--Leblond2019 E
GXYLT1     PN400102chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400190chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400102chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400190chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400102chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400190chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400431 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400507chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400272chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400272chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400272chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400507chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400507chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400507 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400103chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400564chr12:
42499813-42499816
CGTACexonicUnknownnonframeshift deletionNM_001099650
NM_173601
c.575_577del
c.668_670del
p.192_193del
p.223_224del
--Leblond2019 E
GXYLT1     PN400103chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400103chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400564chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400272 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400564chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400564chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400194chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400194chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400347 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400194 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400347chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400194chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400347chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400347chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400508chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400508chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400434 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400434chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400508 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400508chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400434chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400434chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400273chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400273chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400565 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.575_577del
c.668_670del
c.573_574insAA
c.666_667insAA
p.192_193del
p.223_224del
p.L192fs
p.L223fs
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400104chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400273 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400565chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400273chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400565chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400565chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400348chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400348chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400195chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400348 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400348chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400104chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400104chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400104 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400195chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400195chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400195 Complex Event; expand row to view variants  Unknownframeshift insertion, nonframeshift deletionNM_001099650
NM_173601
NM_001099650
NM_173601
c.573_574insAA
c.666_667insAA
c.575_577del
c.668_670del
p.L192fs
p.L223fs
p.192_193del
p.223_224del
--Leblond2019 E
Leblond2019 E
GXYLT1     PN400512chr12:
42499739-42499739
CTexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G652A
c.G745A
p.E218K
p.E249K
36.0-Leblond2019 E
GXYLT1     PN400568chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400512chr12:
42499711-42499711
CAexonicUnknownnonsynonymous SNVNM_001099650
NM_173601
c.G680T
c.G773T
p.R227L
p.R258L
28.9-Leblond2019 E
GXYLT1     PN400568chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E
GXYLT1     PN400277chr12:
42499692-42499692
ATexonicUnknownstopgainNM_001099650
NM_173601
c.T699A
c.T792A
p.Y233X
p.Y264X
33.0-Leblond2019 E