| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209629752G>A | CA16040695 | LAMB3 | c.1117C>T (p.Gln373Ter) c.925C>T (p.Gln309Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629752G>C | CA344592165 | LAMB3 | c.1117C>G (p.Gln373Glu) c.925C>G (p.Gln309Glu) | |
| 1 | g.209629752G= | CA2484300785 | LAMB3 | c.1117C= (p.Gln373=) c.925C= (p.Gln309=) | |
| 1 | g.209629752G>T | CA344592164 | LAMB3 | c.1117C>A (p.Gln373Lys) c.925C>A (p.Gln309Lys) | |
| 1 | g.209629753A>C | CA344592166 | LAMB3 | c.1116T>G (p.Ile372Met) c.924T>G (p.Ile308Met) | |
| 1 | g.209629753A>G | CA423032206 | LAMB3 | c.1116T>C (p.Ile372=) c.924T>C (p.Ile308=) | |
| 1 | g.209629753A>T | CA423032207 | LAMB3 | c.1116T>A (p.Ile372=) c.924T>A (p.Ile308=) | |
| 1 | g.209629754A>C | CA344592167 | LAMB3 | c.1115T>G (p.Ile372Ser) c.923T>G (p.Ile308Ser) | |
| 1 | g.209629754A>G | CA344592168 | LAMB3 | c.1115T>C (p.Ile372Thr) c.923T>C (p.Ile308Thr) | gnomAD v4 |
| 1 | g.209629754A>T | CA344592169 | LAMB3 | c.1115T>A (p.Ile372Asn) c.923T>A (p.Ile308Asn) | |
| 1 | g.209629755T>A | CA344592170 | LAMB3 | c.1114A>T (p.Ile372Phe) c.922A>T (p.Ile308Phe) | |
| 1 | g.209629755T>C | CA344592171 | LAMB3 | c.1114A>G (p.Ile372Val) c.922A>G (p.Ile308Val) | gnomAD v4 |
| 1 | g.209629755T>G | CA344592172 | LAMB3 | c.1114A>C (p.Ile372Leu) c.922A>C (p.Ile308Leu) | |
| 1 | g.209629756G>A | CA423032208 | LAMB3 | c.1113C>T (p.Ser371=) c.921C>T (p.Ser307=) | |
| 1 | g.209629756G>C | CA423032209 | LAMB3 | c.1113C>G (p.Ser371=) c.921C>G (p.Ser307=) | |
| 1 | g.209629756G>T | CA423032210 | LAMB3 | c.1113C>A (p.Ser371=) c.921C>A (p.Ser307=) | |
| 1 | g.209629757G>A | CA344592173 | LAMB3 | c.1112C>T (p.Ser371Phe) c.920C>T (p.Ser307Phe) | |
| 1 | g.209629757G>C | CA344592174 | LAMB3 | c.1112C>G (p.Ser371Cys) c.920C>G (p.Ser307Cys) | |
| 1 | g.209629757G>T | CA344592175 | LAMB3 | c.1112C>A (p.Ser371Tyr) c.920C>A (p.Ser307Tyr) | |
| 1 | g.209629758A>C | CA344592176 | LAMB3 | c.1111T>G (p.Ser371Ala) c.919T>G (p.Ser307Ala) | |
| 1 | g.209629758A>G | CA344592177 | LAMB3 | c.1111T>C (p.Ser371Pro) c.919T>C (p.Ser307Pro) | |
| 1 | g.209629758A>T | CA344592178 | LAMB3 | c.1111T>A (p.Ser371Thr) c.919T>A (p.Ser307Thr) | |
| 1 | g.209629759A>C | CA423032213 | LAMB3 | c.1110T>G (p.Ala370=) c.918T>G (p.Ala306=) | |
| 1 | g.209629759A>G | CA423032215 | LAMB3 | c.1110T>C (p.Ala370=) c.918T>C (p.Ala306=) | |
| 1 | g.209629759A>T | CA423032214 | LAMB3 | c.1110T>A (p.Ala370=) c.918T>A (p.Ala306=) | |
| 1 | g.209629760G>A | CA344592181 | LAMB3 | c.1109C>T (p.Ala370Val) c.917C>T (p.Ala306Val) | |
| 1 | g.209629760G>C | CA344592180 | LAMB3 | c.1109C>G (p.Ala370Gly) c.917C>G (p.Ala306Gly) | |
| 1 | g.209629760G>T | CA344592179 | LAMB3 | c.1109C>A (p.Ala370Asp) c.917C>A (p.Ala306Asp) | |
| 1 | g.209629761C>A | CA344592182 | LAMB3 | c.1108G>T (p.Ala370Ser) c.916G>T (p.Ala306Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629761C= | CA2484300789 | LAMB3 | c.1108G= (p.Ala370=) c.916G= (p.Ala306=) | |
| 1 | g.209629761C>G | CA344592183 | LAMB3 | c.1108G>C (p.Ala370Pro) c.916G>C (p.Ala306Pro) | |
| 1 | g.209629761C>T | CA344592184 | LAMB3 | c.1108G>A (p.Ala370Thr) c.916G>A (p.Ala306Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629762T>A | CA423032216 | LAMB3 | c.1107A>T (p.Gly369=) c.915A>T (p.Gly305=) | |
| 1 | g.209629762T>C | CA423032217 | LAMB3 | c.1107A>G (p.Gly369=) c.915A>G (p.Gly305=) | |
| 1 | g.209629762T>G | CA423032218 | LAMB3 | c.1107A>C (p.Gly369=) c.915A>C (p.Gly305=) | |
| 1 | g.209629763C>A | CA344592185 | LAMB3 | c.1106G>T (p.Gly369Val) c.914G>T (p.Gly305Val) | |
| 1 | g.209629763C>G | CA344592186 | LAMB3 | c.1106G>C (p.Gly369Ala) c.914G>C (p.Gly305Ala) | gnomAD v4 |
| 1 | g.209629763C>T | CA344592187 | LAMB3 | c.1106G>A (p.Gly369Glu) c.914G>A (p.Gly305Glu) | |
| 1 | g.209629764C>A | CA344592188 | LAMB3 | c.1105G>T (p.Gly369Ter) c.913G>T (p.Gly305Ter) | |
| 1 | g.209629764C>G | CA344592189 | LAMB3 | c.1105G>C (p.Gly369Arg) c.913G>C (p.Gly305Arg) | |
| 1 | g.209629764C>T | CA344592190 | LAMB3 | c.1105G>A (p.Gly369Arg) c.913G>A (p.Gly305Arg) | |
| 1 | g.209629765C>A | CA423032222 | LAMB3 | c.1104G>T (p.Pro368=) c.912G>T (p.Pro304=) | |
| 1 | g.209629765C= | CA1144135345 | LAMB3 | c.1104G= (p.Pro368=) c.912G= (p.Pro304=) | |
| 1 | g.209629765C>G | CA423032223 | LAMB3 | c.1104G>C (p.Pro368=) c.912G>C (p.Pro304=) | ClinVar |
| 1 | g.209629765C>T | CA1375697 | LAMB3 | c.1104G>A (p.Pro368=) c.912G>A (p.Pro304=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629765_209629766delinsCG | CA2484300793 | LAMB3 | c.1103_1104delinsCG (p.Pro368=) c.911_912delinsCG (p.Pro304=) | |
| 1 | g.209629766G>A | CA1375698 | LAMB3 | c.1103C>T (p.Pro368Leu) c.911C>T (p.Pro304Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209629766G>C | CA344592191 | LAMB3 | c.1103C>G (p.Pro368Arg) c.911C>G (p.Pro304Arg) | |
| 1 | g.209629766G= | CA1145945800 | LAMB3 | c.1103C= (p.Pro368=) c.911C= (p.Pro304=) | |
| 1 | g.209629766G>T | CA344592192 | LAMB3 | c.1103C>A (p.Pro368Gln) c.911C>A (p.Pro304Gln) |