| 基因名 | 突变 |
|---|---|
| SLC15A1(NM_005073,solute carrier family 15 (oligopeptide transporter), member 1,708aa) | g.13:99356584G>A,c.1375C>T,p.R459C |
| SLC15A1(NM_005073,solute carrier family 15 (oligopeptide transporter), member 1,708aa) | g.13:99356556T>C,c.1403A>G,p.N468S |
| SLC15A1(NM_005073,solute carrier family 15 (oligopeptide transporter), member 1,708aa) | g.13:99340832C>A,c.1467-1G>T,p.489Acceptor |
| SLC15A1(NM_005073,solute carrier family 15 (oligopeptide transporter), member 1,708aa) | g.13:99340554T>C,c.1631A>G,p.N544S |
| SLC15A1(NM_005073,solute carrier family 15 (oligopeptide transporter), member 1,708aa) | g.13:99339905G>A,c.1757C>T,p.P586L |
| SLC15A1(NM_005073,solute carrier family 15 (oligopeptide transporter), member 1,708aa) | g.13:99337130C>T,c.1975G>A,p.V659I |
| SLC15A1(NM_005073,solute carrier family 15 (oligopeptide transporter), member 1,708aa) | g.13:99337112T>C,c.1993A>G,p.I665V |
| SLC15A1(NM_005073,solute carrier family 15 (oligopeptide transporter), member 1,708aa) | g.13:99337039T>C,c.2066A>G,p.N689S |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43262408G>A,c.2687G>A,p.R896H |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43262359G>A,c.2638G>A,p.A880T |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43253759C>T,c.2489C>T,p.T830M |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43252904G>A,c.2269G>A,p.G757S |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43252883G>A,c.2248G>A,p.V750I |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43248346A>G,c.1940A>G,p.N647S |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43248336C>T,c.1930C>T,p.H644Y |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43246162G>A,c.1535G>A,p.R512Q |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43246156G>A,c.1529G>A,p.R510Q |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43243801C>T,c.1403C>T,p.S468L |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43224125G>A,c.1351G>A,p.G451R |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43221309G>A,c.1126+1G>A,p.376Donor |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43219777G>A,c.910G>A,p.V304M |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43206995C>T,c.404C>T,p.P135L |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43206985A>G,c.394A>G,p.I132V |
| SLC14A2(NM_007163,solute carrier family 14 (urea transporter), member 2,920aa) | g.18:43204739C>T,c.110C>T,p.T37I |
| SLC14A1(NM_001146037,solute carrier family 14 (urea transporter), member 1,445aa) | g.18:43319519G>A,c.1006G>A,p.D336N |
| SLC14A1(NM_001146037,solute carrier family 14 (urea transporter), member 1,445aa) | g.18:43316486C>G,c.704C>G,p.P235R |
| SLC14A1(NM_001146037,solute carrier family 14 (urea transporter), member 1,445aa) | g.18:43316449A>G,c.667A>G,p.M223V |
| SLC14A1(NM_001146037,solute carrier family 14 (urea transporter), member 1,445aa) | g.18:43314238G>A,c.510-1G>A,p.170Acceptor |