| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209623516_209623517delinsTG | CA2484298267 | LAMB3 | c.2346_2347delinsCA (p.Pro782=) c.2154_2155delinsCA (p.Pro718=) | |
| 1 | g.209623517G>A | CA423031109 | LAMB3 | c.2346C>T (p.Pro782=) c.2154C>T (p.Pro718=) | ClinVar |
| 1 | g.209623517G>C | CA423031110 | LAMB3 | c.2346C>G (p.Pro782=) c.2154C>G (p.Pro718=) | |
| 1 | g.209623517G>T | CA423031111 | LAMB3 | c.2346C>A (p.Pro782=) c.2154C>A (p.Pro718=) | |
| 1 | g.209623519del | CA16040691 | LAMB3 | c.2346del (p.Thr783ProfsTer?) c.2154del (p.Thr719ProfsTer?) | ClinVar dbSNP |
| 1 | g.209623518G>A | CA344588230 | LAMB3 | c.2345C>T (p.Pro782Leu) c.2153C>T (p.Pro718Leu) | gnomAD v4 |
| 1 | g.209623518G>C | CA344588229 | LAMB3 | c.2345C>G (p.Pro782Arg) c.2153C>G (p.Pro718Arg) | |
| 1 | g.209623518G>T | CA344588228 | LAMB3 | c.2345C>A (p.Pro782His) c.2153C>A (p.Pro718His) | |
| 1 | g.209623519G>A | CA1375281 | LAMB3 | c.2344C>T (p.Pro782Ser) c.2152C>T (p.Pro718Ser) | dbSNP ExAC gnomAD v4 |
| 1 | g.209623519G>C | CA344588231 | LAMB3 | c.2344C>G (p.Pro782Ala) c.2152C>G (p.Pro718Ala) | |
| 1 | g.209623519G= | CA1149112392 | LAMB3 | c.2344C= (p.Pro782=) c.2152C= (p.Pro718=) | |
| 1 | g.209623519G>T | CA344588232 | LAMB3 | c.2344C>A (p.Pro782Thr) c.2152C>A (p.Pro718Thr) | |
| 1 | g.209623520T>A | CA423031114 | LAMB3 | c.2343A>T (p.Thr781=) c.2151A>T (p.Thr717=) | gnomAD v4 |
| 1 | g.209623520T>C | CA423031113 | LAMB3 | c.2343A>G (p.Thr781=) c.2151A>G (p.Thr717=) | |
| 1 | g.209623520T>G | CA423031112 | LAMB3 | c.2343A>C (p.Thr781=) c.2151A>C (p.Thr717=) | |
| 1 | g.209623521G>A | CA36752533 | LAMB3 | c.2342C>T (p.Thr781Ile) c.2150C>T (p.Thr717Ile) | dbSNP |
| 1 | g.209623521G>C | CA344588233 | LAMB3 | c.2342C>G (p.Thr781Arg) c.2150C>G (p.Thr717Arg) | dbSNP |
| 1 | g.209623521G= | CA2484298268 | LAMB3 | c.2342C= (p.Thr781=) c.2150C= (p.Thr717=) | |
| 1 | g.209623521G>T | CA344588234 | LAMB3 | c.2342C>A (p.Thr781Lys) c.2150C>A (p.Thr717Lys) | |
| 1 | g.209623522T>A | CA344588235 | LAMB3 | c.2341A>T (p.Thr781Ser) c.2149A>T (p.Thr717Ser) | |
| 1 | g.209623522T>C | CA344588237 | LAMB3 | c.2341A>G (p.Thr781Ala) c.2149A>G (p.Thr717Ala) | |
| 1 | g.209623522T>G | CA344588236 | LAMB3 | c.2341A>C (p.Thr781Pro) c.2149A>C (p.Thr717Pro) | |
| 1 | g.209623523C>A | CA423031115 | LAMB3 | c.2340G>T (p.Leu780=) c.2148G>T (p.Leu716=) | |
| 1 | g.209623523C>G | CA423031116 | LAMB3 | c.2340G>C (p.Leu780=) c.2148G>C (p.Leu716=) | |
| 1 | g.209623523C>T | CA423031117 | LAMB3 | c.2340G>A (p.Leu780=) c.2148G>A (p.Leu716=) | |
| 1 | g.209623524A= | CA2484298269 | LAMB3 | c.2339T= (p.Leu780=) c.2147T= (p.Leu716=) | |
| 1 | g.209623524A>C | CA344588238 | LAMB3 | c.2339T>G (p.Leu780Arg) c.2147T>G (p.Leu716Arg) | |
| 1 | g.209623524A>G | CA344588240 | LAMB3 | c.2339T>C (p.Leu780Pro) c.2147T>C (p.Leu716Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623524A>T | CA344588239 | LAMB3 | c.2339T>A (p.Leu780Gln) c.2147T>A (p.Leu716Gln) | |
| 1 | g.209623525G>A | CA423031118 | LAMB3 | c.2338C>T (p.Leu780=) c.2146C>T (p.Leu716=) | |
| 1 | g.209623525G>C | CA344588241 | LAMB3 | c.2338C>G (p.Leu780Val) c.2146C>G (p.Leu716Val) | |
| 1 | g.209623525G>T | CA344588242 | LAMB3 | c.2338C>A (p.Leu780Met) c.2146C>A (p.Leu716Met) | |
| 1 | g.209623526G>A | CA1375282 | LAMB3 | c.2337C>T (p.Asp779=) c.2145C>T (p.Asp715=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623526G>C | CA344588243 | LAMB3 | c.2337C>G (p.Asp779Glu) c.2145C>G (p.Asp715Glu) | |
| 1 | g.209623526G= | CA2484298270 | LAMB3 | c.2337C= (p.Asp779=) c.2145C= (p.Asp715=) | |
| 1 | g.209623526G>T | CA344588244 | LAMB3 | c.2337C>A (p.Asp779Glu) c.2145C>A (p.Asp715Glu) | |
| 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) |