基因名 |
突变 |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22421991C>G,c.773C>G,p.P258R |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22421988A>G,c.770A>G,p.K257R |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22421982C>T,c.764C>T,p.P255L |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22421882G>T,c.762G>T,p.R254S |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22421836A>G,c.716A>G,p.E239G |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22421833C>T,c.713C>T,p.T238M |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22421812A>G,c.692A>G,p.E231G |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22421808C>G,c.688C>G,p.R230G |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22421558G>A,c.643G>A,p.A215T |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22415693C>T,c.466C>T,p.R156W |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22412491C>T,c.218C>T,p.P73L |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22412111G>A,c.92G>A,p.R31Q |
SORBS3(NM_005775,sorbin and SH3 domain containing 3,671aa) |
g.8:22412035C>T,c.16C>T,p.R6C |
SORBS2(NM_001270771,sorbin and SH3 domain containing 2,1200aa) |
g.4:186583330A>G,c.322T>C,p.F108L |
SORBS2(NM_001270771,sorbin and SH3 domain containing 2,1200aa) |
g.4:186583323G>T,c.329C>A,p.P110H |
SORBS2(NM_001270771,sorbin and SH3 domain containing 2,1200aa) |
g.4:186548087G>A,c.1121C>T,p.A374V |
SORBS2(NM_001270771,sorbin and SH3 domain containing 2,1200aa) |
g.4:186548084C>T,c.1124G>A,p.S375N |
SORBS2(NM_001270771,sorbin and SH3 domain containing 2,1200aa) |
g.4:186545346A>T,c.1525T>A,p.L509I |
SORBS2(NM_001270771,sorbin and SH3 domain containing 2,1200aa) |
g.4:186545106G>T,c.1765C>A,p.L589M |
SORBS2(NM_001270771,sorbin and SH3 domain containing 2,1200aa) |
g.4:186544704C>T,c.2167G>A,p.D723N |
SORBS2(NM_001270771,sorbin and SH3 domain containing 2,1200aa) |
g.4:186536070G>A,c.3098C>T,p.P1033L |
SORBS2(NM_001270771,sorbin and SH3 domain containing 2,1200aa) |
g.4:186532996G>A,c.3322C>T,p.P1108S |
SORBS2(NM_001270771,sorbin and SH3 domain containing 2,1200aa) |
g.4:186532960T>C,c.3358A>G,p.R1120G |
SORBS2(NM_001270771,sorbin and SH3 domain containing 2,1200aa) |
g.4:186510931G>A,c.3443C>T,p.A1148V |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97192324A>G,c.182T>C,p.L61P |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97192285C>T,c.221G>A,p.R74Q |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97192237G>A,c.269C>T,p.P90L |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97174537C>A,c.524G>T,p.G175V |