Genename |
Variants |
ALX4(NM_021926,ALX homeobox 4,411aa) |
g.11:44331173C>T,c.440G>A,p.S147N |
ALX4(NM_021926,ALX homeobox 4,411aa) |
g.11:44297059C>T,c.616G>A,p.D206N |
ALX4(NM_021926,ALX homeobox 4,411aa) |
g.11:44296947G>A,c.728C>T,p.A243V |
ALX4(NM_021926,ALX homeobox 4,411aa) |
g.11:44296939G>A,c.736C>T,p.Q246X |
ALX4(NM_021926,ALX homeobox 4,411aa) |
g.11:44286598C>T,c.1042G>A,p.D348N |
ALX4(NM_021926,ALX homeobox 4,411aa) |
g.11:44286426G>T,c.1214C>A,p.A405E |
ALX3(NM_006492,ALX homeobox 3,343aa) |
g.1:110607315A>G,c.488T>C,p.F163S |
ALX3(NM_006492,ALX homeobox 3,343aa) |
g.1:110604142C>T,c.638G>A,p.R213H |
ALX3(NM_006492,ALX homeobox 3,343aa) |
g.1:110604076C>T,c.704G>A,p.R235H |
ALX1(NM_006982,ALX homeobox 1,326aa) |
g.12:85674230G>T,c.191G>T,p.R64L |
ALX1(NM_006982,ALX homeobox 1,326aa) |
g.12:85674221A>G,c.182A>G,p.H61R |
ALX1(NM_006982,ALX homeobox 1,326aa) |
g.12:85674188T>C,c.149T>C,p.V50A |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202626437T>C,c.280A>G,p.I94V |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202626322G>A,c.395C>T,p.P132L |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202626242C>T,c.475G>A,p.E159K |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202625615C>T,c.1102G>A,p.V368M |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202622481G>C,c.1115C>G,p.P372R |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202622425C>T,c.1171G>A,p.A391T |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202614467C>T,c.1783G>A,p.D595N |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202598100T>A,c.2479A>T,p.T827S |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202593339G>A,c.2737C>T,p.R913X |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202592477G>A,c.2863C>T,p.P955S |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202592431C>A,c.2909G>T,p.G970V |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202591523G>C,c.3046C>G,p.P1016A |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202589136G>A,c.3394C>T,p.R1132C |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202589064C>G,c.3466G>C,p.V1156L |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202588160C>T,c.3517G>A,p.E1173K |
ALS2(NM_020919,amyotrophic lateral sclerosis 2 (juvenile),1657aa) |
g.2:202588058del,c.3619del,p.1207fs |