Genename |
Variants |
BIN2(NM_016293,bridging integrator 2,565aa) |
g.12:51685681C>A,c.1209G>T,p.K403N |
BIN2(NM_016293,bridging integrator 2,565aa) |
g.12:51681903T>C,c.1585A>G,p.N529D |
BIN1(NM_139343,bridging integrator 1,593aa) |
g.2:127809910G>A,c.1292C>T,p.P431L |
BIN1(NM_139343,bridging integrator 1,593aa) |
g.2:127808046T>C,c.1625A>G,p.K542R |
BIK(NM_001197,BCL2-interacting killer (apoptosis-inducing),160aa) |
g.22:43525285G>A,c.457G>A,p.G153R |
BIK(NM_001197,BCL2-interacting killer (apoptosis-inducing),160aa) |
g.22:43525271T>C,c.443T>C,p.L148P |
BIK(NM_001197,BCL2-interacting killer (apoptosis-inducing),160aa) |
g.22:43525262C>T,c.434C>T,p.A145V |
BIK(NM_001197,BCL2-interacting killer (apoptosis-inducing),160aa) |
g.22:43524587G>A,c.346G>A,p.E116K |
BIK(NM_001197,BCL2-interacting killer (apoptosis-inducing),160aa) |
g.22:43520105C>T,c.77C>T,p.T26I |
BIK(NM_001197,BCL2-interacting killer (apoptosis-inducing),160aa) |
g.22:43520102C>T,c.74C>T,p.P25L |
BIK(NM_001197,BCL2-interacting killer (apoptosis-inducing),160aa) |
g.22:43520083G>A,c.55G>A,p.E19K |
BID(NM_197966,BH3 interacting domain death agonist,241aa) |
g.22:18226764T>C,c.166A>G,p.S56G |
BID(NM_197966,BH3 interacting domain death agonist,241aa) |
g.22:18222113A>G,c.501+2T>C,p.167Donor |
BID(NM_197966,BH3 interacting domain death agonist,241aa) |
g.22:18220857G>A,c.640C>T,p.R214C |
BICD2(NM_001003800,bicaudal D homolog 2 (Drosophila),855aa) |
g.9:95491490T>C,c.269A>G,p.K90R |
BICD2(NM_001003800,bicaudal D homolog 2 (Drosophila),855aa) |
g.9:95481800G>A,c.1127C>T,p.T376M |
BICD2(NM_001003800,bicaudal D homolog 2 (Drosophila),855aa) |
g.9:95481759G>T,c.1168C>A,p.L390I |
BICD2(NM_001003800,bicaudal D homolog 2 (Drosophila),855aa) |
g.9:95481735G>A,c.1192C>T,p.R398W |
BICD2(NM_001003800,bicaudal D homolog 2 (Drosophila),855aa) |
g.9:95481677T>C,c.1250A>G,p.D417G |
BICD2(NM_001003800,bicaudal D homolog 2 (Drosophila),855aa) |
g.9:95481104G>A,c.1823C>T,p.S608L |
BICD1(NM_001714,bicaudal D homolog 1 (Drosophila),975aa) |
g.12:32520627G>A,c.2788G>A,p.V930I |
BICD1(NM_001714,bicaudal D homolog 1 (Drosophila),975aa) |
g.12:32490665G>A,c.2485G>A,p.V829M |
BICD1(NM_001714,bicaudal D homolog 1 (Drosophila),975aa) |
g.12:32490633G>A,c.2453G>A,p.S818N |
BICD1(NM_001714,bicaudal D homolog 1 (Drosophila),975aa) |
g.12:32481011G>C,c.1622G>C,p.S541T |
BICD1(NM_001714,bicaudal D homolog 1 (Drosophila),975aa) |
g.12:32480873A>G,c.1484A>G,p.N495S |
BICD1(NM_001714,bicaudal D homolog 1 (Drosophila),975aa) |
g.12:32480474C>T,c.1085C>T,p.T362M |
BICD1(NM_001714,bicaudal D homolog 1 (Drosophila),975aa) |
g.12:32480413A>G,c.1024A>G,p.I342V |
BICD1(NM_001714,bicaudal D homolog 1 (Drosophila),975aa) |
g.12:32458680C>T,c.629C>T,p.T210M |