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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr10
97440103
T
TGG
intron_variant
MODIFIER
TCTN3
c.1590+125_1590+126insCC
chr10
97440098
CACT
C
intron_variant
MODIFIER
TCTN3
c.1590+128_1590+130delAGT
chr10
92680929
A
G
5_prime_UTR_variant
MODIFIER
ANKRD1
c.-145T>C
chr10
92678765
A
G
intron_variant
MODIFIER
ANKRD1
c.346-36T>C
chr10
92678740
AATAAATAAATATATATAT
A
intron_variant
MODIFIER
ANKRD1
c.346-29_346-12delATATATATATTTATTTAT
chr10
92672564
T
C
3_prime_UTR_variant
MODIFIER
ANKRD1
c.*59A>G
chr10
90749256
G
A
intron_variant
MODIFIER
ACTA2
c.-24+1440C>T
chr10
90703524
C
G
intron_variant
MODIFIER
ACTA2
c.369+30G>C
chr10
90703465
C
T
intron_variant
MODIFIER
ACTA2
c.369+89G>A
chr10
90695243
G
A
intron_variant
MODIFIER
ACTA2
c.991-120C>T
chr10
88685052
TTTTA
T
downstream_gene_variant
MODIFIER
BMPR1A
c.*2147_*2147delTTTA
chr10
88684422
A
G
3_prime_UTR_variant
MODIFIER
BMPR1A
c.*946A>G
chr10
88683890
T
A
3_prime_UTR_variant
MODIFIER
BMPR1A
c.*414T>A
chr10
88683122
T
C
intron_variant
MODIFIER
BMPR1A
c.1343-11T>C
chr10
88682999
T
TGTATATA
intron_variant
MODIFIER
BMPR1A
c.1343-134_1343-133insGTATATA
chr10
88682998
G
GA
intron_variant
MODIFIER
BMPR1A
c.1343-135_1343-134insA
chr10
88652922
T
C
intron_variant
MODIFIER
BMPR1A
c.333+936T>C
chr10
88635779
C
A
missense_variant
MODERATE
BMPR1A
c.4C>A
chr10
88486102
CT
C
intron_variant
MODIFIER
LDB3
c.2109+94delT
chr10
88469587
G
T
intron_variant
MODIFIER
LDB3
c.1101-75G>T