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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr20
50407502
A
C
missense_variant
SALL4
c.1520T>G
p.Leu507Arg
chr20
42747247
C
T
missense_variant
JPH2
c.1186G>A
p.Ala396Thr
chr20
31022959
T
C
missense_variant
ASXL1
c.2444T>C
p.Leu815Pro
chr20
10653603
C
A
missense_variant
JAG1
c.133G>T
p.Val45Leu
chr20
6759115
A
T
missense_variant
BMP2
c.570A>T
p.Arg190Ser
chr20
6750882
T
G
missense_variant
BMP2
c.109T>G
p.Ser37Ala
chr19
49686055
C
G
missense_variant
TRPM4
c.1484C>G
p.Ala495Gly
chr19
39994711
T
C
missense_variant&splice_region_variant
DLL3
c.653T>C
p.Leu218Pro
chr19
18979540
G
A
missense_variant
GDF1
c.985C>T
p.Pro329Ser
chr19
18273047
T
C
missense_variant
PIK3R2
c.937T>C
p.Ser313Pro
chr19
11358799
G
A
missense_variant
DOCK6
c.749C>T
p.Pro250Leu
chr19
11319636
G
A
missense_variant
DOCK6
c.4895C>T
p.Ala1632Val
chr19
8669931
G
C
missense_variant
ADAMTS10
c.401C>G
p.Thr134Ser
chr19
8645786
A
C
missense_variant
ADAMTS10
c.3303T>G
p.His1101Gln
chr18
59814324
G
C
missense_variant
PIGN
c.685C>G
p.His229Asp
chr18
59805532
T
C
splice_acceptor_variant&intron_variant
PIGN
c.1117-1A>G
.
chr18
59780393
T
A
missense_variant
PIGN
c.1408A>T
p.Ile470Leu
chr17
39914003
C
A
missense_variant
JUP
c.1807G>T
p.Val603Leu
chr17
39912145
T
A
missense_variant&splice_region_variant
JUP
c.2089A>T
p.Met697Leu
chr17
17697101
AG
A
frameshift_variant
RAI1
c.840delG
p.Gln280fs