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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr21
47417432
A
AG
intron_variant
MODIFIER
COL6A1
c.1461+35_1461+36insG
chr21
47417415
C
A
intron_variant
MODIFIER
COL6A1
c.1461+18C>A
chr21
47417303
T
C
intron_variant
MODIFIER
COL6A1
c.1399-32T>C
chr21
47417206
A
G
intron_variant
MODIFIER
COL6A1
c.1399-129A>G
chr21
47412840
C
T
intron_variant
MODIFIER
COL6A1
c.1335+116C>T
chr21
47412751
A
C
intron_variant
MODIFIER
COL6A1
c.1335+27A>C
chr21
47412212
G
A
intron_variant
MODIFIER
COL6A1
c.1237-65G>A
chr21
47410931
T
C
synonymous_variant
LOW
COL6A1
c.1095T>C
chr21
47410626
T
G
intron_variant
MODIFIER
COL6A1
c.1003-61T>G
chr21
47410388
AGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC
A
intron_variant
MODIFIER
COL6A1
c.1002+53_1002+89delGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC
chr21
47410378
GAATGGGGC
G
intron_variant
MODIFIER
COL6A1
c.1002+43_1002+50delAATGGGGC
chr21
47409503
A
G
intron_variant
MODIFIER
COL6A1
c.859-19A>G
chr21
47409113
C
T
intron_variant
MODIFIER
COL6A1
c.858+62C>T
chr21
47407362
C
T
intron_variant
MODIFIER
COL6A1
c.739-51C>T
chr21
47406612
C
A
intron_variant
MODIFIER
COL6A1
c.588+13C>A
chr21
47404397
A
G
intron_variant
MODIFIER
COL6A1
c.428+14A>G
chr21
47401760
C
G
5_prime_UTR_variant
MODIFIER
COL6A1
c.-5C>G
chr21
44488755
G
GA
intron_variant
MODIFIER
CBS
c.210-31_210-30insT
chr21
44488033
T
C
intron_variant
MODIFIER
CBS
c.316+586A>G
chr21
44480616
G
A
synonymous_variant
LOW
CBS
c.1080C>T