| Genename | Variants |
|---|---|
| REEP5(NM_005669,receptor accessory protein 5,189aa) | g.5:112222787C>T,c.445G>A,p.E149K |
| REEP4(NM_025232,receptor accessory protein 4,257aa) | g.8:21997529C>T,c.250G>A,p.A84T |
| REEP4(NM_025232,receptor accessory protein 4,257aa) | g.8:21997486C>A,c.293G>T,p.R98L |
| REEP4(NM_025232,receptor accessory protein 4,257aa) | g.8:21996546C>T,c.446G>A,p.R149Q |
| REEP4(NM_025232,receptor accessory protein 4,257aa) | g.8:21996453C>T,c.539G>A,p.R180Q |
| REEP4(NM_025232,receptor accessory protein 4,257aa) | g.8:21996295C>T,c.565G>A,p.G189R |
| REEP4(NM_025232,receptor accessory protein 4,257aa) | g.8:21996277C>T,c.583G>A,p.D195N |
| REEP4(NM_025232,receptor accessory protein 4,257aa) | g.8:21996199G>A,c.661C>T,p.R221C |
| REEP4(NM_025232,receptor accessory protein 4,257aa) | g.8:21996157G>A,c.703C>T,p.R235W |
| REEP4(NM_025232,receptor accessory protein 4,257aa) | g.8:21996040C>T,c.734G>A,p.R245Q |
| REEP3(NM_001001330,receptor accessory protein 3,255aa) | g.10:65358964G>A,c.338G>A,p.R113Q |
| REEP2(NM_001271803,receptor accessory protein 2,254aa) | g.5:137781274C>T,c.683C>T,p.A228V |
| REEP2(NM_001271803,receptor accessory protein 2,254aa) | g.5:137781196C>T,c.605C>T,p.P202L |
| REEP1(NM_022912,receptor accessory protein 1,201aa) | g.2:86459828G>A,c.515C>T,p.P172L |
| REEP1(NM_022912,receptor accessory protein 1,201aa) | g.2:86459814G>A,c.529C>T,p.R177W |
| RECQL(NM_002907,RecQ protein-like (DNA helicase Q1-like),649aa) | g.12:21652503A>G,c.2T>C,p.M1T |
| RECQL(NM_002907,RecQ protein-like (DNA helicase Q1-like),649aa) | g.12:21639508C>T,c.406G>A,p.V136I |
| RECQL(NM_002907,RecQ protein-like (DNA helicase Q1-like),649aa) | g.12:21630886T>C,c.718A>G,p.I240V |
| RECQL(NM_002907,RecQ protein-like (DNA helicase Q1-like),649aa) | g.12:21630771G>C,c.833C>G,p.T278R |
| RECQL(NM_002907,RecQ protein-like (DNA helicase Q1-like),649aa) | g.12:21628746C>T,c.962G>A,p.C321Y |
| RECQL(NM_002907,RecQ protein-like (DNA helicase Q1-like),649aa) | g.12:21628620T>C,c.1088A>G,p.N363S |
| RECQL(NM_002907,RecQ protein-like (DNA helicase Q1-like),649aa) | g.12:21628504C>T,c.1114G>A,p.V372I |
| RECQL(NM_002907,RecQ protein-like (DNA helicase Q1-like),649aa) | g.12:21626550T>C,c.1382A>G,p.H461R |
| RECQL(NM_002907,RecQ protein-like (DNA helicase Q1-like),649aa) | g.12:21624569T>G,c.1460A>C,p.K487T |
| RECQL(NM_002907,RecQ protein-like (DNA helicase Q1-like),649aa) | g.12:21624564T>C,c.1465A>G,p.I489V |
| RECQL(NM_002907,RecQ protein-like (DNA helicase Q1-like),649aa) | g.12:21624546C>G,c.1483G>C,p.D495H |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73662633C>T,c.5G>A,p.S2N |
| RECQL5(NM_004259,RecQ protein-like 5,991aa) | g.17:73662546G>A,c.92C>T,p.T31M |