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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr5
37247700
G
A
intron_variant
MODIFIER
C5orf42
c.81+20C>T
chr5
37239884
T
G
synonymous_variant
LOW
C5orf42
c.765A>C
chr5
37199052
A
AG
intron_variant
MODIFIER
C5orf42
c.3508-85_3508-84insC
chr5
37179341
G
A
intron_variant
MODIFIER
C5orf42
c.5820+122C>T
chr5
37125560
CAGATA
C
intron_variant
MODIFIER
C5orf42
c.8631-54_8631-50delTATCT
chr5
37036492
C
T
synonymous_variant
LOW
NIPBL
c.5874C>T
chr5
37036449
GTA
G
intron_variant
MODIFIER
NIPBL
c.5863-31_5863-30delTA
chr5
37019354
G
A
intron_variant
MODIFIER
NIPBL
c.4921-59G>A
chr5
37007629
T
C
intron_variant
MODIFIER
NIPBL
c.4239+53T>C
chr5
13944512
A
C
missense_variant
MODERATE
DNAH5
c.36T>G
chr5
13931340
C
T
missense_variant
MODERATE
DNAH5
c.71G>A
chr5
13931205
G
C
intron_variant
MODIFIER
DNAH5
c.192+14C>G
chr5
13928085
T
C
intron_variant
MODIFIER
DNAH5
c.277+118A>G
chr5
13914819
G
A
intron_variant
MODIFIER
DNAH5
c.1198-68C>T
chr5
13914796
T
C
intron_variant
MODIFIER
DNAH5
c.1198-45A>G
chr5
13914775
G
T
intron_variant
MODIFIER
DNAH5
c.1198-24C>A
chr5
13914556
A
G
intron_variant
MODIFIER
DNAH5
c.1320+73T>C
chr5
13914120
T
C
intron_variant
MODIFIER
DNAH5
c.1321-53A>G
chr5
13913885
A
G
synonymous_variant
LOW
DNAH5
c.1503T>C
chr5
13902220
T
C
missense_variant
MODERATE
DNAH5
c.1672A>G