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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr15
38617115
C
G
intron_variant
MODIFIER
SPRED1
c.423+105C>G
chr15
38617113
C
T
intron_variant
MODIFIER
SPRED1
c.423+103C>T
chr15
38616815
G
A
intron_variant
MODIFIER
SPRED1
c.377-149G>A
chr15
38614525
G
A
synonymous_variant
LOW
SPRED1
c.291G>A
chr15
38545375
G
C
5_prime_UTR_variant
MODIFIER
SPRED1
c.-12G>C
chr15
35082225
C
T
3_prime_UTR_variant
MODIFIER
ACTC1
c.*388G>A
chr15
35082141
A
G
3_prime_UTR_variant
MODIFIER
ACTC1
c.*472T>C
chr15
35081574
C
T
3_prime_UTR_variant
MODIFIER
ACTC1
c.*1039G>A
chr15
35081168
G
C
3_prime_UTR_variant
MODIFIER
ACTC1
c.*1445C>G
chr15
35080931
T
C
3_prime_UTR_variant
MODIFIER
ACTC1
c.*1682A>G
chr15
35080712
AAAAG
A
3_prime_UTR_variant
MODIFIER
ACTC1
c.*1897_*1900delCTTT
chr15
35080523
T
C
3_prime_UTR_variant
MODIFIER
ACTC1
c.*2090A>G
chr15
23086364
GGCC
G
disruptive_inframe_deletion
MODERATE
NIPA1
c.45_47delGGC
chr15
23059394
C
T
intron_variant
MODIFIER
NIPA1
c.317+1421G>A
chr15
23052632
T
C
synonymous_variant
LOW
NIPA1
c.441A>G
chr15
23049369
G
A
intron_variant
MODIFIER
NIPA1
c.479-29C>T
chr15
23021238
C
T
synonymous_variant
LOW
NIPA2
c.99G>A
chr15
23006707
C
A
synonymous_variant
LOW
NIPA2
c.597G>T
chr15
23006215
CCTTT
C
3_prime_UTR_variant
MODIFIER
NIPA2
c.*2_*5delAAAG
chr15
23000272
A
G
intron_variant
MODIFIER
CYFIP1
c.3597+29A>G