| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209650020C>A | CA344566224 | LAMB3 | c.127G>T (p.Ala43Ser) | |
| 1 | g.209650020C>G | CA344566222 | LAMB3 | c.127G>C (p.Ala43Pro) | |
| 1 | g.209650020C>T | CA344566223 | LAMB3 | c.127G>A (p.Ala43Thr) | gnomAD v4 |
| 1 | g.209650021T>A | CA36731861 | LAMB3 | c.126A>T (p.Arg42=) | dbSNP gnomAD v4 COSMIC |
| 1 | g.209650021T>C | CA423010996 | LAMB3 | c.126A>G (p.Arg42=) | |
| 1 | g.209650021T>G | CA423010995 | LAMB3 | c.126A>C (p.Arg42=) | |
| 1 | g.209650021T= | CA2484309344 | LAMB3 | c.126A= (p.Arg42=) | |
| 1 | g.209650022C>A | CA344566225 | LAMB3 | c.125G>T (p.Arg42Leu) | |
| 1 | g.209650022C= | CA2484309345 | LAMB3 | c.125G= (p.Arg42=) | |
| 1 | g.209650022C>G | CA344566226 | LAMB3 | c.125G>C (p.Arg42Pro) | |
| 1 | g.209650022C>T | CA1376096 | LAMB3 | c.125G>A (p.Arg42Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209650023G>A | CA341329 | LAMB3 | c.124C>T (p.Arg42Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209650023G>C | CA344566227 | LAMB3 | c.124C>G (p.Arg42Gly) | |
| 1 | g.209650023G= | CA1141188136 | LAMB3 | c.124C= (p.Arg42=) | |
| 1 | g.209650023G>T | CA423011005 | LAMB3 | c.124C>A (p.Arg42=) | |
| 1 | g.209650024G>A | CA423011007 | LAMB3 | c.123C>T (p.Leu41=) | |
| 1 | g.209650024G>C | CA423011011 | LAMB3 | c.123C>G (p.Leu41=) | |
| 1 | g.209650024G>T | CA423011010 | LAMB3 | c.123C>A (p.Leu41=) | |
| 1 | g.209650025A>C | CA344566228 | LAMB3 | c.122T>G (p.Leu41Arg) | |
| 1 | g.209650025A>G | CA344566229 | LAMB3 | c.122T>C (p.Leu41Pro) | |
| 1 | g.209650025A>T | CA344566230 | LAMB3 | c.122T>A (p.Leu41His) | |
| 1 | g.209650026del | CA2580061965 | LAMB3 | c.121del (p.Leu41SerfsTer9) | ClinVar |
| 1 | g.209650026G>A | CA344566231 | LAMB3 | c.121C>T (p.Leu41Phe) | dbSNP gnomAD v4 |
| 1 | g.209650026G>C | CA344566232 | LAMB3 | c.121C>G (p.Leu41Val) | |
| 1 | g.209650026G= | CA2484309346 | LAMB3 | c.121C= (p.Leu41=) | |
| 1 | g.209650026G>T | CA344566233 | LAMB3 | c.121C>A (p.Leu41Ile) | |
| 1 | g.209650027A>C | CA344566235 | LAMB3 | c.120T>G (p.Phe40Leu) | |
| 1 | g.209650027A>G | CA423011022 | LAMB3 | c.120T>C (p.Phe40=) | |
| 1 | g.209650027A>T | CA344566234 | LAMB3 | c.120T>A (p.Phe40Leu) | COSMIC |
| 1 | g.209650028A>C | CA344566236 | LAMB3 | c.119T>G (p.Phe40Cys) | |
| 1 | g.209650028A>G | CA344566237 | LAMB3 | c.119T>C (p.Phe40Ser) | |
| 1 | g.209650028A>T | CA344566238 | LAMB3 | c.119T>A (p.Phe40Tyr) | |
| 1 | g.209650029A>C | CA344566239 | LAMB3 | c.118T>G (p.Phe40Val) | |
| 1 | g.209650029A>G | CA344566240 | LAMB3 | c.118T>C (p.Phe40Leu) | |
| 1 | g.209650029A>T | CA344566241 | LAMB3 | c.118T>A (p.Phe40Ile) | |
| 1 | g.209650030C>A | CA423011030 | LAMB3 | c.117G>T (p.Arg39=) | |
| 1 | g.209650030C>G | CA423011032 | LAMB3 | c.117G>C (p.Arg39=) | |
| 1 | g.209650030C>T | CA423011034 | LAMB3 | c.117G>A (p.Arg39=) | |
| 1 | g.209650031C>A | CA344566243 | LAMB3 | c.116G>T (p.Arg39Leu) | |
| 1 | g.209650031C= | CA1142096419 | LAMB3 | c.116G= (p.Arg39=) | |
| 1 | g.209650031C>G | CA344566242 | LAMB3 | c.116G>C (p.Arg39Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209650031C>T | CA1376097 | LAMB3 | c.116G>A (p.Arg39Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209650032G>A | CA1376098 | LAMB3 | c.115C>T (p.Arg39Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209650032G>C | CA344566244 | LAMB3 | c.115C>G (p.Arg39Gly) | |
| 1 | g.209650032G= | CA2484309347 | LAMB3 | c.115C= (p.Arg39=) | |
| 1 | g.209650032G>T | CA423011043 | LAMB3 | c.115C>A (p.Arg39=) | |
| 1 | g.209650033G>A | CA423011047 | LAMB3 | c.114C>T (p.Thr38=) | |
| 1 | g.209650033G>C | CA423011048 | LAMB3 | c.114C>G (p.Thr38=) | |
| 1 | g.209650033G>T | CA423011051 | LAMB3 | c.114C>A (p.Thr38=) | |
| 1 | g.209650034G>A | CA344566245 | LAMB3 | c.113C>T (p.Thr38Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |