Page size
CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr2
179518003
A
G
TTN
c.38753T>C
p.Leu12918Ser
rs2562847
chr2
179499530
T
C
TTN
c.42071A>G
p.His14024Arg
rs2288563
chr2
179472292
T
A
TTN
c.53123A>T
p.Lys17708Ile
rs2303832
chr2
179464527
T
C
TTN
c.56101A>G
p.Asn18701Asp
rs1001238
chr2
179451420
G
A
TTN
c.64208C>T
p.Thr21403Ile
rs2042996
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
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
179404628
T
A
TTN
c.98164A>T
p.Ile32722Phe
rs72648270
chr2
179400895
C
T
TTN
c.100579G>A
p.Val33527Ile
rs2278196
chr2
179398509
C
A
TTN
c.102833G>T
p.Gly34278Val
rs3731752
chr2
179396293
T
C
TTN
c.105049A>G
p.Thr35017Ala
rs368779151
chr2
179395560
G
A
TTN
c.105782C>T
p.Pro35261Leu
rs16866380
chr2
179393111
A
G
TTN
c.107267T>C
p.Val35756Ala
rs16866378
chr2
170177382
G
A
LRP2
c.92C>T
p.Ala31Val
rs144829356
chr2
170175334
T
C
LRP2
c.248A>G
p.Asn83Ser
rs2229263
chr2
170010985
T
C
LRP2
c.12280A>G
p.Lys4094Glu
rs2075252