基因名 |
突变 |
TSHZ2(NM_173485,teashirt zinc finger homeobox 2,1034aa) |
g.20:51870515T>C,c.518T>C,p.L173P |
TSHZ2(NM_173485,teashirt zinc finger homeobox 2,1034aa) |
g.20:51870336G>C,c.339G>C,p.R113S |
TSHZ2(NM_173485,teashirt zinc finger homeobox 2,1034aa) |
g.20:51870163A>G,c.166A>G,p.T56A |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:73000435C>T,c.2938C>T,p.P980S |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:73000141G>C,c.2644G>C,p.V882L |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:73000088G>A,c.2591G>A,p.R864Q |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:72999832G>A,c.2335G>A,p.V779M |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:72999769T>C,c.2272T>C,p.Y758H |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:72999454G>A,c.1957G>A,p.E653K |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:72999359T>C,c.1862T>C,p.L621P |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:72998899G>A,c.1402G>A,p.A468T |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:72998593C>T,c.1096C>T,p.R366C |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:72998530G>A,c.1033G>A,p.V345I |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:72998470A>G,c.973A>G,p.M325V |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:72998422C>T,c.925C>T,p.R309W |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:72998416del,c.919del,p.307fs |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:72997828C>A,c.331C>A,p.P111T |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:72997778C>T,c.281C>T,p.S94L |
TSHZ1(NM_005786,teashirt zinc finger homeobox 1,1032aa) |
g.18:72997643G>A,c.146G>A,p.R49Q |
TSHR(NM_000369,thyroid stimulating hormone receptor,764aa) |
g.14:81610634C>G,c.2232C>G,p.N744K |
TSHR(NM_000369,thyroid stimulating hormone receptor,764aa) |
g.14:81610583G>C,c.2181G>C,p.E727D |
TSHR(NM_000369,thyroid stimulating hormone receptor,764aa) |
g.14:81610563G>T,c.2161G>T,p.V721F |
TSHR(NM_000369,thyroid stimulating hormone receptor,764aa) |
g.14:81610500A>G,c.2098A>G,p.K700E |
TSHR(NM_000369,thyroid stimulating hormone receptor,764aa) |
g.14:81610347C>A,c.1945C>A,p.L649M |
TSHR(NM_000369,thyroid stimulating hormone receptor,764aa) |
g.14:81609976T>C,c.1574T>C,p.F525S |
TSHR(NM_000369,thyroid stimulating hormone receptor,764aa) |
g.14:81609751G>A,c.1349G>A,p.R450H |
TSHR(NM_000369,thyroid stimulating hormone receptor,764aa) |
g.14:81609697A>G,c.1295A>G,p.N432S |
TSHR(NM_000369,thyroid stimulating hormone receptor,764aa) |
g.14:81609597_81609598insC,c.1195_1196insC,p.399fs |