| 基因名 | 突变 |
|---|---|
| STIL(NM_001048166,SCL/TAL1 interrupting locus,1288aa) | g.1:47737769C>T,c.2362G>A,p.V788I |
| STIL(NM_001048166,SCL/TAL1 interrupting locus,1288aa) | g.1:47735307T>C,c.2615A>G,p.N872S |
| STIL(NM_001048166,SCL/TAL1 interrupting locus,1288aa) | g.1:47726103T>C,c.2938A>G,p.T980A |
| STIL(NM_001048166,SCL/TAL1 interrupting locus,1288aa) | g.1:47726087T>C,c.2954A>G,p.H985R |
| STIL(NM_001048166,SCL/TAL1 interrupting locus,1288aa) | g.1:47717505T>C,c.3170A>G,p.N1057S |
| STIL(NM_001048166,SCL/TAL1 interrupting locus,1288aa) | g.1:47717245C>T,c.3430G>A,p.D1144N |
| STIL(NM_001048166,SCL/TAL1 interrupting locus,1288aa) | g.1:47717238G>A,c.3437C>T,p.A1146V |
| STIL(NM_001048166,SCL/TAL1 interrupting locus,1288aa) | g.1:47717094G>A,c.3581C>T,p.P1194L |
| STIL(NM_001048166,SCL/TAL1 interrupting locus,1288aa) | g.1:47717077T>C,c.3598A>G,p.T1200A |
| STIL(NM_001048166,SCL/TAL1 interrupting locus,1288aa) | g.1:47716837G>A,c.3838C>T,p.R1280C |
| STH(NM_001007532,saitohin,128aa) | g.17:44076928T>C,c.283T>C,p.S95P |
| STH(NM_001007532,saitohin,128aa) | g.17:44076727G>A,c.82G>A,p.G28R |
| STH(NM_001007532,saitohin,128aa) | g.17:44076665A>G,c.20A>G,p.Q7R |
| STEAP4(NM_001205315,STEAP family member 4,459aa) | g.7:87913361C>T,c.224G>A,p.G75D |
| STEAP4(NM_001205315,STEAP family member 4,459aa) | g.7:87913221C>T,c.364G>A,p.A122T |
| STEAP4(NM_001205315,STEAP family member 4,459aa) | g.7:87913197C>T,c.388G>A,p.V130M |
| STEAP4(NM_001205315,STEAP family member 4,459aa) | g.7:87913152C>T,c.433G>A,p.G145R |
| STEAP4(NM_001205315,STEAP family member 4,459aa) | g.7:87911988G>A,c.952C>T,p.R318X |
| STEAP4(NM_001205315,STEAP family member 4,459aa) | g.7:87911987C>A,c.953G>T,p.R318L |
| STEAP3(NM_182915,STEAP family member 3, metalloreductase,498aa) | g.2:120020901C>T,c.1484C>T,p.T495M |
| STEAP3(NM_182915,STEAP family member 3, metalloreductase,498aa) | g.2:120020894G>A,c.1477G>A,p.E493K |
| STEAP3(NM_182915,STEAP family member 3, metalloreductase,498aa) | g.2:120020676C>T,c.1259C>T,p.T420M |
| STEAP3(NM_182915,STEAP family member 3, metalloreductase,498aa) | g.2:120012405G>A,c.1196G>A,p.R399K |
| STEAP3(NM_182915,STEAP family member 3, metalloreductase,498aa) | g.2:120005751G>A,c.1019G>A,p.R340H |
| STEAP3(NM_182915,STEAP family member 3, metalloreductase,498aa) | g.2:120005744G>A,c.1012G>A,p.A338T |
| STEAP3(NM_182915,STEAP family member 3, metalloreductase,498aa) | g.2:120005631G>A,c.899G>A,p.R300H |
| STEAP3(NM_182915,STEAP family member 3, metalloreductase,498aa) | g.2:120005613G>A,c.881G>A,p.R294H |
| STEAP3(NM_182915,STEAP family member 3, metalloreductase,498aa) | g.2:120005555G>A,c.823G>A,p.V275M |