| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209630637_209630638delinsGC | CA2484301183 | LAMB3 | c.920_921delinsGC (p.Gly307=) c.728_729delinsGC (p.Gly243=) | |
| 1 | g.209630638C>A | CA1375784 | LAMB3 | c.920G>T (p.Gly307Val) c.728G>T (p.Gly243Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209630638C= | CA2484301184 | LAMB3 | c.920G= (p.Gly307=) c.728G= (p.Gly243=) | |
| 1 | g.209630638C>G | CA344593358 | LAMB3 | c.920G>C (p.Gly307Ala) c.728G>C (p.Gly243Ala) | |
| 1 | g.209630638C>T | CA1375783 | LAMB3 | c.920G>A (p.Gly307Asp) c.728G>A (p.Gly243Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209630640del | CA16040699 | LAMB3 | c.920del (p.Gly307AlafsTer?) c.728del (p.Gly243AlafsTer?) | ClinVar dbSNP |
| 1 | g.209630639C>A | CA344593370 | LAMB3 | c.919G>T (p.Gly307Cys) c.727G>T (p.Gly243Cys) | |
| 1 | g.209630639C>G | CA344593366 | LAMB3 | c.919G>C (p.Gly307Arg) c.727G>C (p.Gly243Arg) | |
| 1 | g.209630639C>T | CA344593368 | LAMB3 | c.919G>A (p.Gly307Ser) c.727G>A (p.Gly243Ser) | |
| 1 | g.209630640C>A | CA344593373 | LAMB3 | c.918G>T (p.Glu306Asp) c.726G>T (p.Glu242Asp) | gnomAD v4 |
| 1 | g.209630640C= | CA2484301185 | LAMB3 | c.918G= (p.Glu306=) c.726G= (p.Glu242=) | |
| 1 | g.209630640C>G | CA344593376 | LAMB3 | c.918G>C (p.Glu306Asp) c.726G>C (p.Glu242Asp) | dbSNP |
| 1 | g.209630640C>T | CA36758865 | LAMB3 | c.918G>A (p.Glu306=) c.726G>A (p.Glu242=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209630641T>A | CA344593378 | LAMB3 | c.917A>T (p.Glu306Val) c.725A>T (p.Glu242Val) | |
| 1 | g.209630641T>C | CA344593380 | LAMB3 | c.917A>G (p.Glu306Gly) c.725A>G (p.Glu242Gly) | |
| 1 | g.209630641T>G | CA344593385 | LAMB3 | c.917A>C (p.Glu306Ala) c.725A>C (p.Glu242Ala) | |
| 1 | g.209630642C>A | CA344593389 | LAMB3 | c.916G>T (p.Glu306Ter) c.724G>T (p.Glu242Ter) | |
| 1 | g.209630642C>G | CA344593393 | LAMB3 | c.916G>C (p.Glu306Gln) c.724G>C (p.Glu242Gln) | |
| 1 | g.209630642C>T | CA344593391 | LAMB3 | c.916G>A (p.Glu306Lys) c.724G>A (p.Glu242Lys) | COSMIC |
| 1 | g.209630643C>A | CA423032424 | LAMB3 | c.915G>T (p.Ala305=) c.723G>T (p.Ala241=) | |
| 1 | g.209630643C= | CA2484301186 | LAMB3 | c.915G= (p.Ala305=) c.723G= (p.Ala241=) | |
| 1 | g.209630643C>G | CA423032425 | LAMB3 | c.915G>C (p.Ala305=) c.723G>C (p.Ala241=) | |
| 1 | g.209630643C>T | CA1375785 | LAMB3 | c.915G>A (p.Ala305=) c.723G>A (p.Ala241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209630644G>A | CA1375786 | LAMB3 | c.914C>T (p.Ala305Val) c.722C>T (p.Ala241Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630644G>C | CA344593400 | LAMB3 | c.914C>G (p.Ala305Gly) c.722C>G (p.Ala241Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209630644G= | CA2484301187 | LAMB3 | c.914C= (p.Ala305=) c.722C= (p.Ala241=) | |
| 1 | g.209630644G>T | CA344593403 | LAMB3 | c.914C>A (p.Ala305Glu) c.722C>A (p.Ala241Glu) | |
| 1 | g.209630645C>A | CA344593406 | LAMB3 | c.913G>T (p.Ala305Ser) c.721G>T (p.Ala241Ser) | |
| 1 | g.209630645C>G | CA344593409 | LAMB3 | c.913G>C (p.Ala305Pro) c.721G>C (p.Ala241Pro) | |
| 1 | g.209630645C>T | CA344593411 | LAMB3 | c.913G>A (p.Ala305Thr) c.721G>A (p.Ala241Thr) | |
| 1 | g.209630646C>A | CA423032426 | LAMB3 | c.912G>T (p.Pro304=) c.720G>T (p.Pro240=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209630646C= | CA1143832051 | LAMB3 | c.912G= (p.Pro304=) c.720G= (p.Pro240=) | |
| 1 | g.209630646C>G | CA423032427 | LAMB3 | c.912G>C (p.Pro304=) c.720G>C (p.Pro240=) | gnomAD v4 |
| 1 | g.209630646C>T | CA1375787 | LAMB3 | c.912G>A (p.Pro304=) c.720G>A (p.Pro240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209630647G>A | CA1375788 | LAMB3 | c.911C>T (p.Pro304Leu) c.719C>T (p.Pro240Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209630647G>C | CA344593417 | LAMB3 | c.911C>G (p.Pro304Arg) c.719C>G (p.Pro240Arg) | |
| 1 | g.209630647G= | CA1141399481 | LAMB3 | c.911C= (p.Pro304=) c.719C= (p.Pro240=) | |
| 1 | g.209630647G>T | CA344593420 | LAMB3 | c.911C>A (p.Pro304Gln) c.719C>A (p.Pro240Gln) | gnomAD v4 |
| 1 | g.209630648G>A | CA1375789 | LAMB3 | c.910C>T (p.Pro304Ser) c.718C>T (p.Pro240Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209630648G>C | CA344593425 | LAMB3 | c.910C>G (p.Pro304Ala) c.718C>G (p.Pro240Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209630648G= | CA2484301188 | LAMB3 | c.910C= (p.Pro304=) c.718C= (p.Pro240=) | |
| 1 | g.209630648G>T | CA344593422 | LAMB3 | c.910C>A (p.Pro304Thr) c.718C>A (p.Pro240Thr) | |
| 1 | g.209630649T>A | CA344593428 | LAMB3 | c.909A>T (p.Arg303Ser) c.717A>T (p.Arg239Ser) | |
| 1 | g.209630649T>C | CA423032428 | LAMB3 | c.909A>G (p.Arg303=) c.717A>G (p.Arg239=) | |
| 1 | g.209630649T>G | CA344593431 | LAMB3 | c.909A>C (p.Arg303Ser) c.717A>C (p.Arg239Ser) | |
| 1 | g.209630650C>A | CA344593433 | LAMB3 | c.908G>T (p.Arg303Ile) c.716G>T (p.Arg239Ile) | |
| 1 | g.209630650C>G | CA344593435 | LAMB3 | c.908G>C (p.Arg303Thr) c.716G>C (p.Arg239Thr) | |
| 1 | g.209630650C>T | CA344593436 | LAMB3 | c.908G>A (p.Arg303Lys) c.716G>A (p.Arg239Lys) | |
| 1 | g.209630651T>A | CA344593439 | LAMB3 | c.907A>T (p.Arg303Ter) c.715A>T (p.Arg239Ter) | |
| 1 | g.209630651T>C | CA344593441 | LAMB3 | c.907A>G (p.Arg303Gly) c.715A>G (p.Arg239Gly) | gnomAD v4 |