基因名 |
突变 |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97174447G>A,c.614C>T,p.P205L |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97174385G>C,c.676C>G,p.R226G |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97174352T>C,c.709A>G,p.T237A |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97174351G>A,c.710C>T,p.T237M |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97174306G>A,c.755C>T,p.P252L |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97174285G>A,c.776C>T,p.S259L |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97154830T>C,c.1225A>G,p.T409A |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97154424T>C,c.1304A>G,p.N435S |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97143826T>C,c.1454A>G,p.Y485C |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97141486C>T,c.1609G>A,p.E537K |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97135809C>T,c.1658G>A,p.R553Q |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97117557T>C,c.1959A>G,p.I653M |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97101142T>C,c.2570A>G,p.Q857R |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97098918G>A,c.2837C>T,p.P946L |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97096921C>T,c.2996G>A,p.R999H |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97096645C>T,c.3272G>A,p.S1091N |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97096630G>A,c.3287C>T,p.P1096L |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97096555C>T,c.3362G>A,p.R1121H |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97096357C>T,c.3560G>A,p.G1187E |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97078116C>T,c.3772G>A,p.V1258I |
SORBS1(NM_001034954,sorbin and SH3 domain containing 1,1292aa) |
g.10:97074865T>C,c.3830A>G,p.K1277R |
SON(NM_138927,SON DNA binding protein,2426aa) |
g.21:34948696G>A,c.7247G>A,p.R2416K |
SON(NM_138927,SON DNA binding protein,2426aa) |
g.21:34948693C>A,c.7244C>A,p.T2415N |
SON(NM_138927,SON DNA binding protein,2426aa) |
g.21:34948692A>T,c.7243A>T,p.T2415S |
SON(NM_138927,SON DNA binding protein,2426aa) |
g.21:34948690T>C,c.7241T>C,p.L2414P |
SON(NM_138927,SON DNA binding protein,2426aa) |
g.21:34948687C>G,c.7238C>G,p.A2413G |
SON(NM_138927,SON DNA binding protein,2426aa) |
g.21:34948686G>A,c.7237G>A,p.A2413T |
SON(NM_138927,SON DNA binding protein,2426aa) |
g.21:34927663A>C,c.6126A>C,p.E2042D |