Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209623527T>A | CA344588245 | LAMB3 | c.2336A>T (p.Asp779Val) c.2144A>T (p.Asp715Val) | gnomAD v4 |
1 | g.209623527T>C | CA344588246 | LAMB3 | c.2336A>G (p.Asp779Gly) c.2144A>G (p.Asp715Gly) | |
1 | g.209623527T>G | CA344588247 | LAMB3 | c.2336A>C (p.Asp779Ala) c.2144A>C (p.Asp715Ala) | |
1 | g.209623528C>A | CA344588248 | LAMB3 | c.2335G>T (p.Asp779Tyr) c.2143G>T (p.Asp715Tyr) | gnomAD v4 |
1 | g.209623528C= | CA2484298271 | LAMB3 | c.2335G= (p.Asp779=) c.2143G= (p.Asp715=) | |
1 | g.209623528C>G | CA344588249 | LAMB3 | c.2335G>C (p.Asp779His) c.2143G>C (p.Asp715His) | |
1 | g.209623528C>T | CA344588250 | LAMB3 | c.2335G>A (p.Asp779Asn) c.2143G>A (p.Asp715Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209623529A= | CA2484298272 | LAMB3 | c.2334T= (p.Pro778=) c.2142T= (p.Pro714=) | |
1 | g.209623529A>C | CA423031119 | LAMB3 | c.2334T>G (p.Pro778=) c.2142T>G (p.Pro714=) | |
1 | g.209623529A>G | CA423031120 | LAMB3 | c.2334T>C (p.Pro778=) c.2142T>C (p.Pro714=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209623529A>T | CA423031121 | LAMB3 | c.2334T>A (p.Pro778=) c.2142T>A (p.Pro714=) | dbSNP |
1 | g.209623530G>A | CA344588253 | LAMB3 | c.2333C>T (p.Pro778Leu) c.2141C>T (p.Pro714Leu) | dbSNP gnomAD v4 |
1 | g.209623530G>C | CA344588251 | LAMB3 | c.2333C>G (p.Pro778Arg) c.2141C>G (p.Pro714Arg) | |
1 | g.209623530G>T | CA344588252 | LAMB3 | c.2333C>A (p.Pro778His) c.2141C>A (p.Pro714His) | |
1 | g.209623531G>A | CA344588254 | LAMB3 | c.2332C>T (p.Pro778Ser) c.2140C>T (p.Pro714Ser) | |
1 | g.209623531G>C | CA344588255 | LAMB3 | c.2332C>G (p.Pro778Ala) c.2140C>G (p.Pro714Ala) | |
1 | g.209623531G>T | CA344588256 | LAMB3 | c.2332C>A (p.Pro778Thr) c.2140C>A (p.Pro714Thr) | COSMIC |
1 | g.209623532C>A | CA344588257 | LAMB3 | c.2331G>T (p.Leu777Phe) c.2139G>T (p.Leu713Phe) | |
1 | g.209623532C>G | CA344588258 | LAMB3 | c.2331G>C (p.Leu777Phe) c.2139G>C (p.Leu713Phe) | |
1 | g.209623532C>T | CA423031122 | LAMB3 | c.2331G>A (p.Leu777=) c.2139G>A (p.Leu713=) | |
1 | g.209623533A>C | CA344588259 | LAMB3 | c.2330T>G (p.Leu777Trp) c.2138T>G (p.Leu713Trp) | |
1 | g.209623533A>G | CA344588260 | LAMB3 | c.2330T>C (p.Leu777Ser) c.2138T>C (p.Leu713Ser) | |
1 | g.209623533A>T | CA344588261 | LAMB3 | c.2330T>A (p.Leu777Ter) c.2138T>A (p.Leu713Ter) | |
1 | g.209623534A= | CA2484298273 | LAMB3 | c.2329T= (p.Leu777=) c.2137T= (p.Leu713=) | |
1 | g.209623534A>C | CA344588262 | LAMB3 | c.2329T>G (p.Leu777Val) c.2137T>G (p.Leu713Val) | |
1 | g.209623534A>G | CA423031123 | LAMB3 | c.2329T>C (p.Leu777=) c.2137T>C (p.Leu713=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209623534A>T | CA344588263 | LAMB3 | c.2329T>A (p.Leu777Met) c.2137T>A (p.Leu713Met) | |
1 | g.209623535C>A | CA423031124 | LAMB3 | c.2328G>T (p.Ser776=) c.2136G>T (p.Ser712=) | |
1 | g.209623535C= | CA1141656932 | LAMB3 | c.2328G= (p.Ser776=) c.2136G= (p.Ser712=) | |
1 | g.209623535C>G | CA423031125 | LAMB3 | c.2328G>C (p.Ser776=) c.2136G>C (p.Ser712=) | |
1 | g.209623535C>T | CA1375283 | LAMB3 | c.2328G>A (p.Ser776=) c.2136G>A (p.Ser712=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209623536G>A | CA1375284 | LAMB3 | c.2327C>T (p.Ser776Leu) c.2135C>T (p.Ser712Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209623536G>C | CA344588265 | LAMB3 | c.2327C>G (p.Ser776Trp) c.2135C>G (p.Ser712Trp) | |
1 | g.209623536G= | CA1148886317 | LAMB3 | c.2327C= (p.Ser776=) c.2135C= (p.Ser712=) | |
1 | g.209623536G>T | CA344588264 | LAMB3 | c.2327C>A (p.Ser776Ter) c.2135C>A (p.Ser712Ter) | ClinVar |
1 | g.209623537A>C | CA344588266 | LAMB3 | c.2326T>G (p.Ser776Ala) c.2134T>G (p.Ser712Ala) | |
1 | g.209623537A>G | CA344588267 | LAMB3 | c.2326T>C (p.Ser776Pro) c.2134T>C (p.Ser712Pro) | |
1 | g.209623537A>T | CA344588268 | LAMB3 | c.2326T>A (p.Ser776Thr) c.2134T>A (p.Ser712Thr) | |
1 | g.209623538A= | CA2484298274 | LAMB3 | c.2325T= (p.Ser775=) c.2133T= (p.Ser711=) | |
1 | g.209623538A>C | CA423031126 | LAMB3 | c.2325T>G (p.Ser775=) c.2133T>G (p.Ser711=) | |
1 | g.209623538A>G | CA423031127 | LAMB3 | c.2325T>C (p.Ser775=) c.2133T>C (p.Ser711=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209623538A>T | CA423031128 | LAMB3 | c.2325T>A (p.Ser775=) c.2133T>A (p.Ser711=) | |
1 | g.209623539G>A | CA344588269 | LAMB3 | c.2324C>T (p.Ser775Phe) c.2132C>T (p.Ser711Phe) | |
1 | g.209623539G>C | CA344588270 | LAMB3 | c.2324C>G (p.Ser775Cys) c.2132C>G (p.Ser711Cys) | |
1 | g.209623539G>T | CA344588271 | LAMB3 | c.2324C>A (p.Ser775Tyr) c.2132C>A (p.Ser711Tyr) | |
1 | g.209623540A= | CA2484298275 | LAMB3 | c.2323T= (p.Ser775=) c.2131T= (p.Ser711=) | |
1 | g.209623540A>C | CA344588272 | LAMB3 | c.2323T>G (p.Ser775Ala) c.2131T>G (p.Ser711Ala) | gnomAD v4 |
1 | g.209623540A>G | CA344588273 | LAMB3 | c.2323T>C (p.Ser775Pro) c.2131T>C (p.Ser711Pro) | |
1 | g.209623540A>T | CA1375285 | LAMB3 | c.2323T>A (p.Ser775Thr) c.2131T>A (p.Ser711Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209623541C>A | CA344588274 | LAMB3 | c.2322G>T (p.Met774Ile) c.2130G>T (p.Met710Ile) |