基因名 突变
MAMDC2(NM_153267,MAM domain containing 2,686aa) g.9:72741312G>A,c.881G>A,p.S294N
MAMDC2(NM_153267,MAM domain containing 2,686aa) g.9:72727998G>A,c.593G>A,p.R198Q
MAMDC2(NM_153267,MAM domain containing 2,686aa) g.9:72723133A>G,c.155A>G,p.Y52C
MALT1(NM_006785,mucosa associated lymphoid tissue lymphoma translocation gene 1,824aa) g.18:56414794T>C,c.2195T>C,p.M732T
MALT1(NM_006785,mucosa associated lymphoid tissue lymphoma translocation gene 1,824aa) g.18:56376637A>G,c.677A>G,p.K226R
MALT1(NM_006785,mucosa associated lymphoid tissue lymphoma translocation gene 1,824aa) g.18:56367823A>G,c.649A>G,p.R217G
MALT1(NM_006785,mucosa associated lymphoid tissue lymphoma translocation gene 1,824aa) g.18:56363667G>A,c.446G>A,p.R149Q
MALSU1(NM_138446,mitochondrial assembly of ribosomal large subunit 1,234aa) g.7:23349140C>T,c.683C>T,p.P228L
MALSU1(NM_138446,mitochondrial assembly of ribosomal large subunit 1,234aa) g.7:23349047G>A,c.590G>A,p.R197H
MALSU1(NM_138446,mitochondrial assembly of ribosomal large subunit 1,234aa) g.7:23340481A>G,c.280A>G,p.I94V
MALSU1(NM_138446,mitochondrial assembly of ribosomal large subunit 1,234aa) g.7:23339179C>T,c.208C>T,p.R70W
MAL(NM_002371,mal, T-cell differentiation protein,153aa) g.2:95713823C>G,c.213C>G,p.I71M
MAL(NM_002371,mal, T-cell differentiation protein,153aa) g.2:95691596C>T,c.59C>T,p.T20I
MAL2(NM_052886,mal, T-cell differentiation protein 2 (gene/pseudogene),176aa) g.8:120233968G>A,c.274G>A,p.A92T
MAL2(NM_052886,mal, T-cell differentiation protein 2 (gene/pseudogene),176aa) g.8:120220776del,c.64+1del,p.22Donordel
MAK(NM_001242957,male germ cell-associated kinase,648aa) g.6:10802237T>C,c.719A>G,p.Q240R
MAK(NM_001242957,male germ cell-associated kinase,648aa) g.6:10796406G>C,c.968C>G,p.P323R
MAK(NM_001242957,male germ cell-associated kinase,648aa) g.6:10792073T>C,c.1151A>G,p.N384S
MAK(NM_001242957,male germ cell-associated kinase,648aa) g.6:10792040C>A,c.1184G>T,p.R395L
MAK(NM_001242957,male germ cell-associated kinase,648aa) g.6:10792019T>G,c.1205A>C,p.K402T
MAK(NM_001242957,male germ cell-associated kinase,648aa) g.6:10791986T>C,c.1238A>G,p.Y413C
MAK(NM_001242957,male germ cell-associated kinase,648aa) g.6:10784768T>C,c.1354A>G,p.T452A
MAK(NM_001242957,male germ cell-associated kinase,648aa) g.6:10775600G>A,c.1558C>T,p.P520S
MAK(NM_001242957,male germ cell-associated kinase,648aa) g.6:10770438G>T,c.1698C>A,p.Y566X
MAK(NM_001242957,male germ cell-associated kinase,648aa) g.6:10770421A>G,c.1715T>C,p.I572T
MAK(NM_001242957,male germ cell-associated kinase,648aa) g.6:10770358T>C,c.1778A>G,p.N593S
MAK(NM_001242957,male germ cell-associated kinase,648aa) g.6:10764770T>G,c.1862A>C,p.N621T
MAK16(NM_032509,MAK16 homolog (S. cerevisiae),300aa) g.8:33356074A>G,c.830A>G,p.Q277R
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