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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr1
228438045
G
A
intron_variant
MODIFIER
OBSCN
c.4585+104G>A
chr1
228437603
T
C
intron_variant
MODIFIER
OBSCN
c.4310-63T>C
chr1
228434467
T
C
synonymous_variant
LOW
OBSCN
c.4272T>C
chr1
228434395
T
C
synonymous_variant
LOW
OBSCN
c.4200T>C
chr1
228433217
A
G
synonymous_variant
LOW
OBSCN
c.3861A>G
chr1
228432047
G
T
missense_variant
MODERATE
OBSCN
c.3532G>T
chr1
228431930
C
T
intron_variant
MODIFIER
OBSCN
c.3482-67C>T
chr1
228431095
A
G
synonymous_variant
LOW
OBSCN
c.3417A>G
chr1
228430697
A
G
intron_variant
MODIFIER
OBSCN
c.3206-187A>G
chr1
228402121
A
G
missense_variant
MODERATE
OBSCN
c.1505A>G
chr1
228402047
A
G
synonymous_variant
LOW
OBSCN
c.1431A>G
chr1
228399766
T
C
synonymous_variant
LOW
OBSCN
c.282T>C
chr1
228399482
C
G
5_prime_UTR_variant
MODIFIER
OBSCN
c.-3C>G
chr1
218610662
CTT
CT
intron_variant
MODIFIER
TGFB2
c.1017-21delT
chr1
218610662
CTT
C
intron_variant
MODIFIER
TGFB2
c.1017-22_1017-21delTT
chr1
218578685
T
TTTGTTG
intron_variant
MODIFIER
TGFB2
c.594+11_594+12insTTGTTG
chr1
204518842
C
A
3_prime_UTR_variant
MODIFIER
MDM4
c.*32C>A
chr1
204516025
A
G
intron_variant
MODIFIER
MDM4
c.903+20A>G
chr1
204515863
C
T
intron_variant
MODIFIER
MDM4
c.823-62C>T
chr1
204512100
T
C
intron_variant
MODIFIER
MDM4
c.672+28T>C