基因名 突变
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12400837G>A,c.3095C>T,p.T1032M
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12400783C>T,c.3149G>A,p.C1050Y
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12397130G>C,c.3286C>G,p.P1096A
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12396944T>A,c.3472A>T,p.I1158F
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12396938C>G,c.3478G>C,p.V1160L
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12395956C>A,c.3526G>T,p.V1176L
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12391319G>T,c.3766C>A,p.Q1256K
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12391268_12391269insA,c.3816_3817insT,p.1272fs
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12384038T>C,c.3944A>G,p.K1315R
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12381687G>A,c.4268C>T,p.T1423I
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12376835C>T,c.4430G>A,p.R1477H
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12376811A>C,c.4454T>G,p.F1485C
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12376689T>C,c.4483A>G,p.M1495V
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12375766C>T,c.4654+1G>A,p.1552Donor
VWDE(NM_001135924,von Willebrand factor D and EGF domains,1590aa) g.7:12373131C>T,c.4718G>A,p.R1573H
VWCE(NM_152718,von Willebrand factor C and EGF domains,955aa) g.11:61048663G>A,c.832C>T,p.R278W
VWCE(NM_152718,von Willebrand factor C and EGF domains,955aa) g.11:61045894T>C,c.1379A>G,p.N460S
VWCE(NM_152718,von Willebrand factor C and EGF domains,955aa) g.11:61044130G>T,c.1430C>A,p.S477Y
VWCE(NM_152718,von Willebrand factor C and EGF domains,955aa) g.11:61040755G>C,c.1615C>G,p.P539A
VWCE(NM_152718,von Willebrand factor C and EGF domains,955aa) g.11:61026652G>T,c.2363C>A,p.T788K
VWCE(NM_152718,von Willebrand factor C and EGF domains,955aa) g.11:61026640G>A,c.2375C>T,p.S792L
VWCE(NM_152718,von Willebrand factor C and EGF domains,955aa) g.11:61026601G>A,c.2414C>T,p.T805M
VWCE(NM_152718,von Willebrand factor C and EGF domains,955aa) g.11:61026565G>A,c.2450C>T,p.P817L
VWCE(NM_152718,von Willebrand factor C and EGF domains,955aa) g.11:61026536C>T,c.2479G>A,p.A827T
VWCE(NM_152718,von Willebrand factor C and EGF domains,955aa) g.11:61026289G>A,c.2726C>T,p.S909L
VWCE(NM_152718,von Willebrand factor C and EGF domains,955aa) g.11:61026266C>T,c.2749G>A,p.G917R
VWCE(NM_152718,von Willebrand factor C and EGF domains,955aa) g.11:61026170G>A,c.2845C>T,p.R949W
VWCE(NM_152718,von Willebrand factor C and EGF domains,955aa) g.11:61026169C>T,c.2846G>A,p.R949Q
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