基因名 |
突变 |
SZT2(NM_015284,seizure threshold 2 homolog (mouse),3375aa) |
g.1:43893708G>A,c.3667G>A,p.A1223T |
SZT2(NM_015284,seizure threshold 2 homolog (mouse),3375aa) |
g.1:43893384C>T,c.3611C>T,p.A1204V |
SZT2(NM_015284,seizure threshold 2 homolog (mouse),3375aa) |
g.1:43893240G>A,c.3467G>A,p.R1156H |
SZT2(NM_015284,seizure threshold 2 homolog (mouse),3375aa) |
g.1:43893207C>T,c.3434C>T,p.A1145V |
SZT2(NM_015284,seizure threshold 2 homolog (mouse),3375aa) |
g.1:43892987C>T,c.3298C>T,p.P1100S |
SZT2(NM_015284,seizure threshold 2 homolog (mouse),3375aa) |
g.1:43892422C>T,c.3080C>T,p.P1027L |
SZT2(NM_015284,seizure threshold 2 homolog (mouse),3375aa) |
g.1:43891273A>T,c.2774A>T,p.K925M |
SZT2(NM_015284,seizure threshold 2 homolog (mouse),3375aa) |
g.1:43890811G>A,c.2578G>A,p.E860K |
SZT2(NM_015284,seizure threshold 2 homolog (mouse),3375aa) |
g.1:43886494C>T,c.1336C>T,p.P446S |
SZT2(NM_015284,seizure threshold 2 homolog (mouse),3375aa) |
g.1:43885584_43885585insG,c.1059_1060insG,p.353fs |
SZT2(NM_015284,seizure threshold 2 homolog (mouse),3375aa) |
g.1:43885485_43885486insT,c.960_961insT,p.320fs |
SZT2(NM_015284,seizure threshold 2 homolog (mouse),3375aa) |
g.1:43870124G>A,c.401G>A,p.R134Q |
SZT2(NM_015284,seizure threshold 2 homolog (mouse),3375aa) |
g.1:43868903G>A,c.83G>A,p.R28Q |
SYVN1(NM_172230,synovial apoptosis inhibitor 1, synoviolin,617aa) |
g.11:64897510G>T,c.1372C>A,p.P458T |
SYVN1(NM_172230,synovial apoptosis inhibitor 1, synoviolin,617aa) |
g.11:64897378G>T,c.1418C>A,p.P473Q |
SYVN1(NM_172230,synovial apoptosis inhibitor 1, synoviolin,617aa) |
g.11:64897376T>C,c.1420A>G,p.M474V |
SYVN1(NM_172230,synovial apoptosis inhibitor 1, synoviolin,617aa) |
g.11:64896160T>C,c.1622A>G,p.N541S |
SYVN1(NM_172230,synovial apoptosis inhibitor 1, synoviolin,617aa) |
g.11:64896065G>A,c.1717C>T,p.P573S |
SYTL5(NM_001163335,synaptotagmin-like 5,730aa) |
g.X:37985895G>A,c.2105G>A,p.R702H |
SYTL5(NM_001163335,synaptotagmin-like 5,730aa) |
g.X:37965870G>A,c.1180G>A,p.V394I |
SYTL5(NM_001163335,synaptotagmin-like 5,730aa) |
g.X:37961637T>C,c.1105T>C,p.S369P |
SYTL5(NM_001163335,synaptotagmin-like 5,730aa) |
g.X:37953621G>A,c.905G>A,p.R302H |
SYTL5(NM_001163335,synaptotagmin-like 5,730aa) |
g.X:37953620C>T,c.904C>T,p.R302C |
SYTL5(NM_001163335,synaptotagmin-like 5,730aa) |
g.X:37953548G>A,c.832G>A,p.E278K |
SYTL5(NM_001163335,synaptotagmin-like 5,730aa) |
g.X:37948836G>A,c.827G>A,p.S276N |
SYTL5(NM_001163335,synaptotagmin-like 5,730aa) |
g.X:37948832A>G,c.823A>G,p.I275V |
SYTL4(NM_080737,synaptotagmin-like 4,671aa) |
g.X:99957026T>A,c.8A>T,p.E3V |
SYTL4(NM_080737,synaptotagmin-like 4,671aa) |
g.X:99955954T>C,c.478A>G,p.T160A |