基因名 突变
PQLC1(NM_025078,PQ loop repeat containing 1,271aa) g.18:77664035G>A,c.757C>T,p.R253C
PPY(NM_002722,pancreatic polypeptide,95aa) g.17:42019010G>A,c.13C>T,p.R5C
PPWD1(NM_001278926,peptidylprolyl isomerase domain and WD repeat containing 1,616aa) g.5:64883155G>T,c.1783G>T,p.V595F
PPWD1(NM_001278926,peptidylprolyl isomerase domain and WD repeat containing 1,616aa) g.5:64883117T>C,c.1745T>C,p.V582A
PPWD1(NM_001278926,peptidylprolyl isomerase domain and WD repeat containing 1,616aa) g.5:64878890C>T,c.1286C>T,p.T429M
PPWD1(NM_001278926,peptidylprolyl isomerase domain and WD repeat containing 1,616aa) g.5:64875402A>G,c.1222A>G,p.I408V
PPWD1(NM_001278926,peptidylprolyl isomerase domain and WD repeat containing 1,616aa) g.5:64868088T>G,c.854T>G,p.M285R
PPWD1(NM_001278926,peptidylprolyl isomerase domain and WD repeat containing 1,616aa) g.5:64865487G>A,c.238G>A,p.D80N
PPWD1(NM_001278926,peptidylprolyl isomerase domain and WD repeat containing 1,616aa) g.5:64863389G>A,c.156G>A,p.M52I
PPTC7(NM_139283,PTC7 protein phosphatase homolog (S. cerevisiae),304aa) g.12:111020740_111020742del,c.95_97del,p.32_33del
PPTC7(NM_139283,PTC7 protein phosphatase homolog (S. cerevisiae),304aa) g.12:110983698C>T,c.589G>A,p.V197I
PPT2(NM_005155,palmitoyl-protein thioesterase 2,302aa) g.6:32122895G>A,c.272G>A,p.R91Q
PPT2(NM_005155,palmitoyl-protein thioesterase 2,302aa) g.6:32122472C>A,c.101C>A,p.A34E
PPT2(NM_005155,palmitoyl-protein thioesterase 2,302aa) g.6:32122431C>A,c.60C>A,p.F20L
PPT2(NM_005155,palmitoyl-protein thioesterase 2,302aa) g.6:32122386C>G,c.15C>G,p.C5W
PPT1(NM_000310,palmitoyl-protein thioesterase 1,306aa) g.1:40557033A>G,c.401T>C,p.I134T
PPT1(NM_000310,palmitoyl-protein thioesterase 1,306aa) g.1:40539852G>A,c.802C>T,p.R268C
PPT1(NM_000310,palmitoyl-protein thioesterase 1,306aa) g.1:40539817C>G,c.837G>C,p.Q279H
PPT1(NM_000310,palmitoyl-protein thioesterase 1,306aa) g.1:40539750T>C,c.904A>G,p.I302V
PPRC1(NM_015062,peroxisome proliferator-activated receptor gamma, coactivator-related 1,1664aa) g.10:103908604A>C,c.4648A>C,p.I1550L
PPRC1(NM_015062,peroxisome proliferator-activated receptor gamma, coactivator-related 1,1664aa) g.10:103908217T>C,c.4489T>C,p.S1497P
PPRC1(NM_015062,peroxisome proliferator-activated receptor gamma, coactivator-related 1,1664aa) g.10:103908197C>T,c.4469C>T,p.S1490L
PPRC1(NM_015062,peroxisome proliferator-activated receptor gamma, coactivator-related 1,1664aa) g.10:103907110G>A,c.4361G>A,p.R1454Q
PPRC1(NM_015062,peroxisome proliferator-activated receptor gamma, coactivator-related 1,1664aa) g.10:103907104G>A,c.4355G>A,p.R1452Q
PPRC1(NM_015062,peroxisome proliferator-activated receptor gamma, coactivator-related 1,1664aa) g.10:103907055C>T,c.4306C>T,p.R1436W
PPRC1(NM_015062,peroxisome proliferator-activated receptor gamma, coactivator-related 1,1664aa) g.10:103906807C>T,c.4058C>T,p.P1353L
PPRC1(NM_015062,peroxisome proliferator-activated receptor gamma, coactivator-related 1,1664aa) g.10:103906777C>T,c.4028C>T,p.P1343L
PPRC1(NM_015062,peroxisome proliferator-activated receptor gamma, coactivator-related 1,1664aa) g.10:103906612G>A,c.3863G>A,p.R1288Q
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