基因名 |
突变 |
ZMYM1(NM_024772,zinc finger, MYM-type 1,1142aa) |
g.1:35562965G>A,c.217G>A,p.V73M |
ZMYM1(NM_024772,zinc finger, MYM-type 1,1142aa) |
g.1:35559644G>A,c.56G>A,p.G19E |
ZMPSTE24(NM_005857,zinc metallopeptidase STE24,475aa) |
g.1:40758225C>T,c.1312C>T,p.L438F |
ZMPSTE24(NM_005857,zinc metallopeptidase STE24,475aa) |
g.1:40756572G>A,c.1106G>A,p.R369Q |
ZMPSTE24(NM_005857,zinc metallopeptidase STE24,475aa) |
g.1:40756542_40756543insT,c.1076_1077insT,p.359fs |
ZMPSTE24(NM_005857,zinc metallopeptidase STE24,475aa) |
g.1:40737578A>G,c.640A>G,p.I214V |
ZMPSTE24(NM_005857,zinc metallopeptidase STE24,475aa) |
g.1:40735756_40735757insT,c.584_585insT,p.195fs |
ZMIZ2(NM_031449,zinc finger, MIZ-type containing 2,920aa) |
g.7:44806215C>T,c.2608C>T,p.P870S |
ZMIZ2(NM_031449,zinc finger, MIZ-type containing 2,920aa) |
g.7:44806159C>T,c.2552C>T,p.A851V |
ZMIZ2(NM_031449,zinc finger, MIZ-type containing 2,920aa) |
g.7:44806089G>A,c.2482G>A,p.G828R |
ZMIZ2(NM_031449,zinc finger, MIZ-type containing 2,920aa) |
g.7:44805814C>T,c.2294C>T,p.T765M |
ZMIZ2(NM_031449,zinc finger, MIZ-type containing 2,920aa) |
g.7:44800176G>T,c.1224G>T,p.L408F |
ZMIZ2(NM_031449,zinc finger, MIZ-type containing 2,920aa) |
g.7:44796990C>G,c.382C>G,p.P128A |
ZMIZ2(NM_031449,zinc finger, MIZ-type containing 2,920aa) |
g.7:44796747G>A,c.367G>A,p.G123R |
ZMIZ2(NM_031449,zinc finger, MIZ-type containing 2,920aa) |
g.7:44796675G>A,c.295G>A,p.A99T |
ZMIZ1(NM_020338,zinc finger, MIZ-type containing 1,1067aa) |
g.10:81070900G>A,c.3055G>A,p.G1019R |
ZMIZ1(NM_020338,zinc finger, MIZ-type containing 1,1067aa) |
g.10:81070858G>A,c.3013G>A,p.D1005N |
ZMIZ1(NM_020338,zinc finger, MIZ-type containing 1,1067aa) |
g.10:81070834G>A,c.2989G>A,p.A997T |
ZMIZ1(NM_020338,zinc finger, MIZ-type containing 1,1067aa) |
g.10:81070823C>T,c.2978C>T,p.P993L |
ZMIZ1(NM_020338,zinc finger, MIZ-type containing 1,1067aa) |
g.10:81053204A>G,c.1024A>G,p.M342V |
ZMAT5(NM_019103,zinc finger, matrin-type 5,170aa) |
g.22:30144524G>A,c.10C>T,p.R4X |
ZMAT5(NM_019103,zinc finger, matrin-type 5,170aa) |
g.22:30127342del,c.385del,p.129fs |
ZMAT4(NM_024645,zinc finger, matrin-type 4,229aa) |
g.8:40438757T>C,c.601A>G,p.T201A |
ZMAT3(NM_152240,zinc finger, matrin-type 3,288aa) |
g.3:178748672G>A,c.386C>T,p.P129L |
ZMAT1(NM_001282400,zinc finger, matrin-type 1,467aa) |
g.X:101139758C>T,c.128G>A,p.R43K |
ZMAT1(NM_001282400,zinc finger, matrin-type 1,467aa) |
g.X:101139641C>T,c.245G>A,p.R82H |
ZMAT1(NM_001282400,zinc finger, matrin-type 1,467aa) |
g.X:101139621C>T,c.265G>A,p.D89N |
ZMAT1(NM_001282400,zinc finger, matrin-type 1,467aa) |
g.X:101138792T>C,c.1094A>G,p.Q365R |