| 基因名 | 突变 |
|---|---|
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227892720C>T,c.3979G>A,p.V1327M |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227886785T>A,c.4195A>T,p.M1399L |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227886773A>G,c.4207T>C,p.S1403P |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227875202A>G,c.4349T>C,p.I1450T |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227875130G>A,c.4421C>T,p.T1474M |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227872887C>T,c.4656G>A,p.M1552I |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227872828G>A,c.4715C>T,p.P1572L |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227872812C>T,c.4731G>A,p.A1577A |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227872783G>C,c.4760C>G,p.P1587R |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227872169T>C,c.4945A>G,p.S1649G |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228176554C>T,c.4981C>T,p.R1661C |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228173979T>G,c.4700T>G,p.I1567S |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228173943C>T,c.4664C>T,p.A1555V |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228173675A>G,c.4523A>G,p.N1508S |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228173636A>G,c.4484A>G,p.Q1495R |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228172468G>A,c.4295G>A,p.R1432H |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228168748C>A,c.4041C>A,p.D1347E |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228163475G>A,c.3829G>A,p.G1277S |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228163453C>A,c.3807C>A,p.D1269E |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228162451G>A,c.3627G>A,p.M1209I |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228159737G>A,c.3476G>A,p.R1159H |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228159701C>T,c.3440C>T,p.S1147F |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228158021C>T,c.3325C>T,p.P1109S |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228157951G>A,c.3255G>A,p.M1085I |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228157923C>T,c.3227C>T,p.P1076L |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228149028G>A,c.2848G>A,p.V950I |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228148488G>A,c.2662G>A,p.D888N |
| COL4A3(NM_000091,collagen, type IV, alpha 3 (Goodpasture antigen),1670aa) | g.2:228147093A>G,c.2501A>G,p.K834R |