基因名 突变
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119183661_119183662insGGGCA,c.560-2insTGCCC,p.187Acceptorins
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119183298C>T,c.800G>A,p.R267H
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119183244C>T,c.854G>A,p.S285N
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119183093C>T,c.907G>A,p.G303R
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119183068C>T,c.932G>A,p.R311Q
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119182785C>T,c.1120G>A,p.E374K
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119182644C>G,c.1159G>C,p.E387Q
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119182623A>T,c.1180T>A,p.L394M
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119182607C>G,c.1196G>C,p.R399P
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119182587G>A,c.1216C>T,p.R406C
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119182272G>A,c.1375C>T,p.R459W
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119182029C>T,c.1510G>A,p.D504N
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119181832C>G,c.1613G>C,p.S538T
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119181818C>T,c.1627G>A,p.A543T
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119181530C>T,c.1729G>A,p.A577T
MCAM(NM_006500,melanoma cell adhesion molecule,646aa) g.11:119181069G>A,c.1901C>T,p.P634L
MC5R(NM_005913,melanocortin 5 receptor,325aa) g.18:13826678C>T,c.914C>T,p.T305I
MC5R(NM_005913,melanocortin 5 receptor,325aa) g.18:13826548C>A,c.784C>A,p.L262I
MC5R(NM_005913,melanocortin 5 receptor,325aa) g.18:13826497G>A,c.733G>A,p.G245S
MC5R(NM_005913,melanocortin 5 receptor,325aa) g.18:13826417G>A,c.653G>A,p.R218Q
MC5R(NM_005913,melanocortin 5 receptor,325aa) g.18:13826391C>G,c.627C>G,p.F209L
MC5R(NM_005913,melanocortin 5 receptor,325aa) g.18:13826203G>A,c.439G>A,p.A147T
MC4R(NM_005912,melanocortin 4 receptor,332aa) g.18:58039479T>C,c.104A>G,p.Y35C
MC4R(NM_005912,melanocortin 4 receptor,332aa) g.18:58039276C>T,c.307G>A,p.V103I
MC4R(NM_005912,melanocortin 4 receptor,332aa) g.18:58038832T>G,c.751A>C,p.I251L
MC4R(NM_005912,melanocortin 4 receptor,332aa) g.18:58038826C>T,c.757G>A,p.V253I
MC3R(NM_019888,melanocortin 3 receptor,323aa) g.20:54824190G>A,c.291G>A,p.M97I
MC3R(NM_019888,melanocortin 3 receptor,323aa) g.20:54824171A>G,c.272A>G,p.N91S
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