Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
179444939
C
T
TTN
c.67075G>A
p.Val22359Ile
rs2303838
chr2
179444768
C
G
TTN
c.67246G>C
p.Ala22416Pro
rs4145333
chr2
179434516
C
T
TTN
c.76343G>A
p.Ser25448Asn
rs3813243
chr2
179434139
A
G
TTN
c.76720T>C
p.Tyr25574His
rs3813245
chr2
179433580
T
C
TTN
c.77279A>G
p.Asn25760Ser
rs3813246
chr2
179433221
T
C
TTN
c.77638A>G
p.Thr25880Ala
rs56018860
chr2
179431594
A
G
TTN
c.79265T>C
p.Ile26422Thr
rs3731745
chr2
179430997
G
A
TTN
c.79862C>T
p.Thr26621Met
rs3731746
chr2
179427536
T
C
TTN
c.83323A>G
p.Ile27775Val
rs3829746
chr2
179421694
A
G
TTN
c.88187T>C
p.Ile29396Thr
rs9808377
chr2
179411011
T
C
TTN
c.95047A>G
p.Ser31683Gly
rs72648257
chr2
179404628
T
A
TTN
c.98164A>T
p.Ile32722Phe
rs72648270
chr2
179401740
C
T
TTN
c.100096G>A
p.Val33366Ile
rs55675869
chr2
179400895
C
T
TTN
c.100579G>A
p.Val33527Ile
rs2278196
chr2
179398509
C
A
TTN
c.102833G>T
p.Gly34278Val
rs3731752
chr2
179395560
G
A
TTN
c.105782C>T
p.Pro35261Leu
rs16866380
chr2
167099158
A
G
SCN9A
c.3448T>C
p.Trp1150Arg
rs6746030
chr2
158626980
C
T
ACVR1
c.690G>A
.
rs1146031
chr2
74725178
G
A
LBX2
c.473C>T
p.Ser158Phe
rs17009998
chr2
28854958
C
T
PLB1
c.3953C>T
p.Ala1318Val
rs2199619