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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr15
74483415
T
C
intron_variant
MODIFIER
STRA6
c.982+93A>G
chr15
74477239
G
A
intron_variant
MODIFIER
STRA6
c.1283+82C>T
chr15
74476340
G
C
intron_variant
MODIFIER
STRA6
c.1284-10C>G
chr15
74473739
C
T
missense_variant
MODERATE
STRA6
c.1698G>A
chr15
67486383
A
G
3_prime_UTR_variant
MODIFIER
SMAD3
c.*3509A>G
chr15
67485933
AGAG
A
3_prime_UTR_variant
MODIFIER
SMAD3
c.*3063_*3065delGAG
chr15
67484091
A
G
3_prime_UTR_variant
MODIFIER
SMAD3
c.*1217A>G
chr15
67462729
G
A
intron_variant
MODIFIER
SMAD3
c.608-163G>A
chr15
67457335
A
G
synonymous_variant
LOW
SMAD3
c.309A>G
chr15
67430223
T
C
intron_variant
MODIFIER
SMAD3
c.207-27010T>C
chr15
67418391
A
G
intron_variant
MODIFIER
SMAD3
c.207-38842A>G
chr15
67418233
G
A
5_prime_UTR_variant
MODIFIER
SMAD3
c.-199G>A
chr15
67418205
G
A
5_prime_UTR_variant
MODIFIER
SMAD3
c.-227G>A
chr15
67391394
GT
G
intron_variant
MODIFIER
SMAD3
c.206+32697delT
chr15
67008708
G
A
intron_variant
MODIFIER
SMAD6
c.875-51G>A
chr15
67003841
C
T
intron_variant
MODIFIER
SMAD6
c.818-165C>T
chr15
66782048
C
T
splice_region_variant&intron_variant
LOW
MAP2K1
c.1023-8C>T
chr15
66779698
C
T
intron_variant
MODIFIER
MAP2K1
c.960+68C>T
chr15
66745929
G
C
intron_variant
MODIFIER
MAP2K1
c.568+8884G>C
chr15
66745890
G
A
intron_variant
MODIFIER
MAP2K1
c.568+8845G>A