| 基因名 | 突变 |
|---|---|
| TBC1D21(NM_153356,TBC1 domain family, member 21,336aa) | g.15:74176557G>A,c.338G>A,p.R113Q |
| TBC1D21(NM_153356,TBC1 domain family, member 21,336aa) | g.15:74174064G>A,c.248G>A,p.R83Q |
| TBC1D20(NM_144628,TBC1 domain family, member 20,403aa) | g.20:428553T>C,c.236A>G,p.N79S |
| TBC1D20(NM_144628,TBC1 domain family, member 20,403aa) | g.20:420894C>T,c.766G>A,p.V256M |
| TBC1D20(NM_144628,TBC1 domain family, member 20,403aa) | g.20:419381C>T,c.1061G>A,p.R354Q |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38138874C>T,c.3425C>T,p.T1142M |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38138856G>A,c.3407G>A,p.R1136Q |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38126706C>T,c.3086C>T,p.T1029M |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38126655T>C,c.3035T>C,p.L1012S |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38091684A>G,c.2182A>G,p.I728V |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38051315T>C,c.1706T>C,p.L569P |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38051306C>T,c.1697C>T,p.S566L |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38046029G>A,c.1460G>A,p.S487N |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38045998G>A,c.1429G>A,p.A477T |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38023294G>A,c.1165G>A,p.G389S |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38023279G>C,c.1150G>C,p.A384P |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38023274C>T,c.1145C>T,p.A382V |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38022219G>A,c.980G>A,p.R327K |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38016517A>G,c.805A>G,p.I269V |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38016395T>G,c.683T>G,p.V228G |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:38016328A>T,c.616A>T,p.S206C |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:37904089C>T,c.373C>T,p.R125W |
| TBC1D1(NM_015173,TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1,1168aa) | g.4:37903756T>C,c.40T>C,p.S14P |
| TBC1D19(NM_018317,TBC1 domain family, member 19,526aa) | g.4:26741578A>G,c.1210A>G,p.I404V |
| TBC1D19(NM_018317,TBC1 domain family, member 19,526aa) | g.4:26675415A>G,c.721A>G,p.S241G |
| TBC1D19(NM_018317,TBC1 domain family, member 19,526aa) | g.4:26661234C>T,c.496C>T,p.R166C |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50391003A>G,c.1571A>G,p.N524S |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50387947T>C,c.1376T>C,p.M459T |