1
1490746115卢比[智人]- 变量类型：
- SNV公司
- 等位基因：
- G> A、T[展示侧翼]
- 染色体：
- 1996年10月23日（GRCh38）
10:104159399（GRCh37）
- 标准SPDI:
- NC_000010.11:102399641:G:A，NC_00000.11:10239941:G:T
- 基因：
- NFKB2型(Varview公司)
- 功能后果：
- 编码序列变量，错义变量
- 已验证：
- 按频率、按alfa、按簇
- 最大允许流量：
T=0./0(阿尔法)T=0.000004/1（顶部）A=0.000008/1（GnomAD_exomes） - HGVS：
NC_000010.11:g.102399642G>A,NC_000010.11:g.102399642G>T,NC_000010.10:g.104159399G>A,NC_000010.10:g.104159399G>T,NG_033874.2：g.10533G>A,NG_033874.2：g.10533G>T,NM_002502.6:c.1393G>A,NM_002502.6:c.1393G>T,NM_002502.5:c.1393G>A,NM_002502.5:c.1393G>T,NM_002502.4:c.1393G>A,NM_002502.4:c.1393G>T,NM_001077494.3:c.1393G>A,NM_001077494.3:c.1393G>T,NM_001077494.2:c.1393G>A,NM_001077494.2:c.1393G>T,NM_001261403.3:c.1393G>A,NM_001261403.3:c.1393G>T,NM_001261403.2:c.1393G>A,NM_001261403.2:c.1393G>T,NM_001261403.1:c.1393G>A,NM_001261403.1:c.1393G>T,NM_001322934.2：c.1393G>A,NM_001322934.2:c.1393G>T,NM_001322934.1:c.1393G>A,NM_001322934.1:c.1393G>T,NM_001288724.1:c.1393G>A,NM_001288724.1:c.1393G>T,NM_001322935.1:c.1267G>A,NM_001322935.1:c.1267G>T,NR_048560.1:n.1956G>A,NR_048560.1:n.1956G>T,NM_001077493.1:c.1393G>A,NM_001077493.1:c.1393G>T,NP_002493.3：p.Gly465Ser,NP_002493.3：p.Gly465Cys,NP_001070962.1：p.Gly465Ser,NP_001070962.1：p.格雷465Cys,NP_001248332.1：p.Gly465Ser公司,NP_001248332.1：p.Gly465Cys公司,NP_001309863.1：p.Gly465Ser公司,NP_001309863.1：p.Gly465Cys公司,NP_001275653.1：p.Gly465Ser公司,NP_001275653.1：p.Gly465Cys公司,NP_001309864.1：p.Gly423Ser,NP_001309864.1：p.Gly423Cys
三。
1489953740卢比[智人]- 变量类型：
- SNV公司
- 等位基因：
- C> G公司[展示侧翼]
- 染色体：
- 1994年10月10日（GRCh38）
10:104159236（GRCh37）
- 标准SPDI:
- NC_000010.11:102399478：中文
- 基因：
- NFKB2型(Varview公司)
- 功能后果：
- 编码序列变量，错义变量
- 已验证：
- 按频率、按alfa、按簇
- 镁合金：
G=0./0(阿尔法)G=0.000004/1（顶部） - HGVS：
NC_000010.11:g.102399479C>g,NC_000010.10:g.104159236C>g,NG_033874.2：g.10370C>g,NM_002502.6:c.1309C>G,NM_002502.5:c.1309C>G,NM_002502.4:c.1309C>G,NM_001077494.3:c.1309C>G,NM_001077494.2:c.1309C>G,NM_001261403.3:c.1309C>G,NM_001261403.2：c.1309C>G,NM_001261403.1：c.1309C>G,NM_001322934.2:c.1309C>G,NM_001322934.1:c.1309C>G,NM_001288724.1:c.1309C>G,NM_001322935.1:c.1183C>G,NR_048560.1:n.1872C>G,NM_001077493.1:c.1309C>G,NP_002493.3：p.Pro437Ala,NP_001070962.1：p.Pro437Ala,NP_001248332.1：p.Pro437Ala,NP_001309863.1:p.Pro437Ala,NP_001275653.1：p.Pro437Ala,NP_001309864.1：p.Pro395Ala
5
rs1489898837[智人]- 变量类型：
- SNV公司
- 等位基因：
- G> T型[展示侧翼]
- 染色体：
- 10:102400362（GRCh38）
10:104160119（GRCh37）
- 标准SPDI:
- NC_000010.11:102400361：克：吨
- 基因：
- NFKB2型(Varview公司)
- 功能后果：
- 编码序列变量，错义变量
- HGVS：
NC_000010.11:g.102400362G>T,NC_000010.10:g.104160119G>T,NG_033874.2：g.11253G>T,NM_002502.6:c.1669G>T,NM_002502.5:c.1669G>T,NM_002502.4:c.1669G>T,NM_001077494.3:c.1669G>T,NM_001077494.2:c.1669G>T,NM_001261403.3:c.1669G>T,NM_001261403.2：c.1669G>T,NM_001261403.1：c.1669G>T,NM_001322934.2:c.1669G>T,NM_001322934.1:c.1669G>T,NM_001288724.1:c.1669G>T,NM_001322935.1:c.1543G>T,NR_048560.1:n.2232G>T,NM_001077493.1:c.1669G>T,NP_002493.3：p.Asp557Tyr,NP_001070962.1：p.Asp557Tyr,NP_001248332.1：p.Asp557Tyr,NP_001309863.1：p.Asp557Tyr,NP_001275653.1：p.Asp557Tyr,NP_001309864.1:p.Asp515Tyr
9
rs1488705625[智人]- 变量类型：
- SNV公司
- 等位基因：
- G> A类[展示侧翼]
- 染色体：
- 10:102401869（GRCh38）
10:104161626（GRCh37）
- 标准SPDI:
- NC_000010.11:102401868:希腊：A
- 基因：
- NFKB2型(Varview公司)
- 功能后果：
- 同义词变体，编码序列变体
- 临床意义:
- 可能发生
- 已验证：
- 按频率、按alfa、按集群
- 最大允许流量：
A=0./0(阿尔法)A=0.000004/1（GnomAD_exomes）A=0.000004/1（顶部）A=0.000007/1（GnomAD） - HGVS：
NC_000010.11:g.102401869G>A,NC_000010.10:g.104161626G>A,NG_033874.2：g.12760G>A,NM_002502.6:c.2418G>A,NM_002502.5:c.2418G>A,NM_002502.4:c.2418G>A,NM_001077494.3:c.2418G>A,NM_001077494.2:c.2418G>A,NM_001261403.3:c.2418G>A,NM_001261403.2:c.2418G>A,NM_001261403.1：c.2418G>A,NM_001322934.2:c.2418G>A,NM_001322934.1:c.2418G>A,NM_001288724.1:c.2418G>A,NM_001322935.1:c.2292G>A,NR_048560.1:n.2981G>A,NM_001077493.1:c.2418G>A