基因名 突变
SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) g.17:17720319C>T,c.1828G>A,p.V610M
SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) g.17:17720300C>T,c.1847G>A,p.R616H
SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) g.17:17719989C>T,c.1919G>A,p.R640Q
SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) g.17:17719906G>A,c.2002C>T,p.R668C
SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) g.17:17719848G>A,c.2060C>T,p.A687V
SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) g.17:17718592C>T,c.2525G>A,p.R842Q
SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) g.17:17718052G>C,c.2702C>G,p.P901R
SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) g.17:17717013G>A,c.3062C>T,p.P1021L
SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) g.17:17716709G>A,c.3277C>T,p.R1093W
SRD5A1(NM_001047,steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1),259aa) g.5:6663021G>A,c.655G>A,p.A219T
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76030355C>T,c.139G>A,p.A47T
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76029759C>T,c.319G>A,p.V107M
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76029695C>T,c.383G>A,p.R128H
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76028057G>A,c.533C>T,p.T178M
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76024633T>C,c.883A>G,p.T295A
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76024608G>A,c.908C>T,p.A303V
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76024597C>A,c.919G>T,p.D307Y
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76024573A>G,c.943T>C,p.S315P
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76022731G>A,c.1324C>T,p.L442F
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76019684G>A,c.1420C>T,p.R474C
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76019590C>T,c.1514G>A,p.R505Q
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76019510G>A,c.1594C>T,p.R532X
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76019509C>T,c.1595G>A,p.R532Q
SRCRB4D(NM_080744,scavenger receptor cysteine rich domain containing, group B (4 domains),575aa) g.7:76019476C>T,c.1628G>A,p.R543H
SRC(NM_005417,v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog,536aa) g.20:36026125C>T,c.727C>T,p.R243C
SRC(NM_005417,v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog,536aa) g.20:36022675C>T,c.548C>T,p.T183M
SRC(NM_005417,v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog,536aa) g.20:36022583del,c.456del,p.152fs
SRCIN1(NM_025248,SRC kinase signaling inhibitor 1,1183aa) g.17:36761945G>T,c.14C>A,p.P5Q
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org