Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.36575322_36575995delinsGCG | CA2740093700 | RAG1 | c.2018_2691delinsGCG (p.Ala673GlyfsTer7) | ClinVar |
11 | g.36575548T>A | CA474032381 | RAG1 | c.2244T>A (p.Ser748=) | |
11 | g.36575548T>C | CA474032380 | RAG1 | c.2244T>C (p.Ser748=) | |
11 | g.36575548T>G | CA474032379 | RAG1 | c.2244T>G (p.Ser748=) | |
11 | g.36575549A= | CA1964167535 | RAG1 | c.2245A= (p.Ile749=) | |
11 | g.36575549A>C | CA380154303 | RAG1 | c.2245A>C (p.Ile749Leu) | |
11 | g.36575549A>G | CA5950233 | RAG1 | c.2245A>G (p.Ile749Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.36575549A>T | CA380154304 | RAG1 | c.2245A>T (p.Ile749Leu) | |
11 | g.36575550T>A | CA380154305 | RAG1 | c.2246T>A (p.Ile749Lys) | |
11 | g.36575550T>C | CA380154306 | RAG1 | c.2246T>C (p.Ile749Thr) | |
11 | g.36575550T>G | CA380154307 | RAG1 | c.2246T>G (p.Ile749Arg) | |
11 | g.36575551A>C | CA474032382 | RAG1 | c.2247A>C (p.Ile749=) | |
11 | g.36575551A>G | CA380154308 | RAG1 | c.2247A>G (p.Ile749Met) | |
11 | g.36575551A>T | CA474032383 | RAG1 | c.2247A>T (p.Ile749=) | |
11 | g.36575552A= | CA1964167538 | RAG1 | c.2248A= (p.Thr750=) | |
11 | g.36575552A>C | CA380154309 | RAG1 | c.2248A>C (p.Thr750Pro) | |
11 | g.36575552A>G | CA380154310 | RAG1 | c.2248A>G (p.Thr750Ala) | |
11 | g.36575552A>T | CA380154311 | RAG1 | c.2248A>T (p.Thr750Ser) | ClinVar dbSNP |
11 | g.36575553C>A | CA380154314 | RAG1 | c.2249C>A (p.Thr750Asn) | |
11 | g.36575553C>G | CA380154313 | RAG1 | c.2249C>G (p.Thr750Ser) | |
11 | g.36575553C>T | CA380154312 | RAG1 | c.2249C>T (p.Thr750Ile) | |
11 | g.36575554C>A | CA5950234 | RAG1 | c.2250C>A (p.Thr750=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.36575554C= | CA1964167548 | RAG1 | c.2250C= (p.Thr750=) | |
11 | g.36575554C>G | CA474032384 | RAG1 | c.2250C>G (p.Thr750=) | ClinVar gnomAD v4 |
11 | g.36575554C>T | CA474032385 | RAG1 | c.2250C>T (p.Thr750=) | dbSNP |
11 | g.36575555del | CA2740093703 | RAG1 | c.2251del (p.Arg751GlufsTer29) | ClinVar |
11 | g.36575555A>C | CA474032386 | RAG1 | c.2251A>C (p.Arg751=) | |
11 | g.36575555A>G | CA380154315 | RAG1 | c.2251A>G (p.Arg751Gly) | |
11 | g.36575555A>T | CA380154316 | RAG1 | c.2251A>T (p.Arg751Ter) | |
11 | g.36575556G>A | CA380154317 | RAG1 | c.2252G>A (p.Arg751Lys) | |
11 | g.36575556G>C | CA380154318 | RAG1 | c.2252G>C (p.Arg751Thr) | |
11 | g.36575556G>T | CA380154319 | RAG1 | c.2252G>T (p.Arg751Ile) | |
11 | g.36575557A= | CA1964167553 | RAG1 | c.2253A= (p.Arg751=) | |
11 | g.36575557A>C | CA380154320 | RAG1 | c.2253A>C (p.Arg751Ser) | gnomAD v4 |
11 | g.36575557A>G | CA474032387 | RAG1 | c.2253A>G (p.Arg751=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.36575557A>T | CA380154321 | RAG1 | c.2253A>T (p.Arg751Ser) | |
11 | g.36575558A>C | CA380154322 | RAG1 | c.2254A>C (p.Ser752Arg) | |
11 | g.36575558A>G | CA380154323 | RAG1 | c.2254A>G (p.Ser752Gly) | gnomAD v4 |
11 | g.36575558A>T | CA380154324 | RAG1 | c.2254A>T (p.Ser752Cys) | |
11 | g.36575559G>A | CA380154327 | RAG1 | c.2255G>A (p.Ser752Asn) | gnomAD v4 |
11 | g.36575559G>C | CA380154326 | RAG1 | c.2255G>C (p.Ser752Thr) | |
11 | g.36575559G>T | CA380154325 | RAG1 | c.2255G>T (p.Ser752Ile) | |
11 | g.36575560C>A | CA380154328 | RAG1 | c.2256C>A (p.Ser752Arg) | |
11 | g.36575560C= | CA1964167554 | RAG1 | c.2256C= (p.Ser752=) | |
11 | g.36575560C>G | CA380154329 | RAG1 | c.2256C>G (p.Ser752Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.36575560C>T | CA474032388 | RAG1 | c.2256C>T (p.Ser752=) | ClinVar |
11 | g.36575561C>A | CA380154330 | RAG1 | c.2257C>A (p.His753Asn) | |
11 | g.36575561C>G | CA380154331 | RAG1 | c.2257C>G (p.His753Asp) | |
11 | g.36575561C>T | CA380154332 | RAG1 | c.2257C>T (p.His753Tyr) | |
11 | g.36575562A= | CA1964167558 | RAG1 | c.2258A= (p.His753=) |