基因名 |
突变 |
TAP2(NM_000544,transporter 2, ATP-binding cassette, sub-family B (MDR/TAP),703aa) |
g.6:32796793G>A,c.1951C>T,p.R651C |
TAP2(NM_000544,transporter 2, ATP-binding cassette, sub-family B (MDR/TAP),703aa) |
g.6:32796751T>C,c.1993A>G,p.T665A |
TAP2(NM_000544,transporter 2, ATP-binding cassette, sub-family B (MDR/TAP),703aa) |
g.6:32796685A>G,c.2059T>C,p.X687Q |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32821433C>T,c.161G>A,p.R54Q |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32821365C>G,c.229G>C,p.G77R |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32821022A>G,c.572T>C,p.L191P |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32820277del,c.781del,p.261fs |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32820000C>A,c.910G>T,p.V304L |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32819921C>T,c.989G>A,p.R330H |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32818774T>C,c.1177A>G,p.I393V |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32818242A>G,c.1283T>C,p.I428T |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32818236G>A,c.1289C>T,p.A430V |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32816772C>A,c.1552G>T,p.V518L |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32816544C>T,c.1631G>A,p.R544H |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32816448G>A,c.1727C>T,p.P576L |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32816443C>T,c.1732G>A,p.V578I |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32814975T>C,c.2090A>G,p.D697G |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32814942C>T,c.2123G>A,p.R708Q |
TAP1(NM_000593,transporter 1, ATP-binding cassette, sub-family B (MDR/TAP),808aa) |
g.6:32813421G>T,c.2362C>A,p.Q788K |
TAOK3(NM_016281,TAO kinase 3,898aa) |
g.12:118682751C>T,c.140G>A,p.S47N |
TAOK3(NM_016281,TAO kinase 3,898aa) |
g.12:118671521T>G,c.601A>C,p.K201Q |
TAOK3(NM_016281,TAO kinase 3,898aa) |
g.12:118588884A>G,c.2615T>C,p.I872T |
TAOK3(NM_016281,TAO kinase 3,898aa) |
g.12:118588826A>T,c.2673T>A,p.D891E |
TAOK2(NM_016151,TAO kinase 2,1235aa) |
g.16:29999225G>A,c.3632G>A,p.R1211H |
TAOK2(NM_016151,TAO kinase 2,1235aa) |
g.16:29999081G>A,c.3488G>A,p.R1163Q |
TAOK2(NM_016151,TAO kinase 2,1235aa) |
g.16:29999072G>A,c.3479G>A,p.R1160H |
TAOK2(NM_016151,TAO kinase 2,1235aa) |
g.16:29998978G>A,c.3385G>A,p.V1129I |
TAOK2(NM_016151,TAO kinase 2,1235aa) |
g.16:29998970G>A,c.3377G>A,p.R1126H |