| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.49131021_49131028del | CA2665699344 | LAMB2 | c.839_846del (p.Arg280LeufsTer21) c.392_399del (p.Arg131LeufsTer?) | gnomAD v4 |
| 3 | g.49131028T>A | CA433835136 | LAMB2 | c.837A>T (p.Val279=) c.390A>T (p.Val130=) | dbSNP |
| 3 | g.49131028T>C | CA433835137 | LAMB2 | c.837A>G (p.Val279=) c.390A>G (p.Val130=) | |
| 3 | g.49131028T>G | CA433835138 | LAMB2 | c.837A>C (p.Val279=) c.390A>C (p.Val130=) | |
| 3 | g.49131029A>C | CA352747087 | LAMB2 | c.836T>G (p.Val279Gly) c.389T>G (p.Val130Gly) | |
| 3 | g.49131029A>G | CA352747110 | LAMB2 | c.836T>C (p.Val279Ala) c.389T>C (p.Val130Ala) | |
| 3 | g.49131029A>T | CA352747123 | LAMB2 | c.836T>A (p.Val279Glu) c.389T>A (p.Val130Glu) | |
| 3 | g.49131030C>A | CA352747154 | LAMB2 | c.835G>T (p.Val279Leu) c.388G>T (p.Val130Leu) | |
| 3 | g.49131030C= | CA1363342806 | LAMB2 | c.835G= (p.Val279=) c.388G= (p.Val130=) | |
| 3 | g.49131030C>G | CA352747131 | LAMB2 | c.835G>C (p.Val279Leu) c.388G>C (p.Val130Leu) | |
| 3 | g.49131030C>T | CA352747138 | LAMB2 | c.835G>A (p.Val279Ile) c.388G>A (p.Val130Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49131031A>C | CA433835142 | LAMB2 | c.834T>G (p.Val278=) c.387T>G (p.Val129=) | |
| 3 | g.49131031A>G | CA433835153 | LAMB2 | c.834T>C (p.Val278=) c.387T>C (p.Val129=) | |
| 3 | g.49131031A>T | CA433835146 | LAMB2 | c.834T>A (p.Val278=) c.387T>A (p.Val129=) | |
| 3 | g.49131032A>C | CA352747159 | LAMB2 | c.833T>G (p.Val278Gly) c.386T>G (p.Val129Gly) | |
| 3 | g.49131032A>G | CA352747164 | LAMB2 | c.833T>C (p.Val278Ala) c.386T>C (p.Val129Ala) | |
| 3 | g.49131032A>T | CA352747174 | LAMB2 | c.833T>A (p.Val278Asp) c.386T>A (p.Val129Asp) | |
| 3 | g.49131033C>A | CA352747181 | LAMB2 | c.832G>T (p.Val278Phe) c.385G>T (p.Val129Phe) | dbSNP |
| 3 | g.49131033C>G | CA352747185 | LAMB2 | c.832G>C (p.Val278Leu) c.385G>C (p.Val129Leu) | |
| 3 | g.49131033C>T | CA352747194 | LAMB2 | c.832G>A (p.Val278Ile) c.385G>A (p.Val129Ile) | |
| 3 | g.49131034C>A | CA433835166 | LAMB2 | c.831G>T (p.Leu277=) c.384G>T (p.Leu128=) | |
| 3 | g.49131034C>G | CA433835167 | LAMB2 | c.831G>C (p.Leu277=) c.384G>C (p.Leu128=) | |
| 3 | g.49131034C>T | CA433835168 | LAMB2 | c.831G>A (p.Leu277=) c.384G>A (p.Leu128=) | dbSNP gnomAD v4 |
| 3 | g.49131035A>C | CA352747197 | LAMB2 | c.830T>G (p.Leu277Arg) c.383T>G (p.Leu128Arg) | |
| 3 | g.49131035A>G | CA352747196 | LAMB2 | c.830T>C (p.Leu277Pro) c.383T>C (p.Leu128Pro) | |
| 3 | g.49131035A>T | CA352747195 | LAMB2 | c.830T>A (p.Leu277Gln) c.383T>A (p.Leu128Gln) | dbSNP |
| 3 | g.49131036G>A | CA433835171 | LAMB2 | c.829C>T (p.Leu277=) c.382C>T (p.Leu128=) | dbSNP |
| 3 | g.49131036G>C | CA352747199 | LAMB2 | c.829C>G (p.Leu277Val) c.382C>G (p.Leu128Val) | |
| 3 | g.49131036G>T | CA352747201 | LAMB2 | c.829C>A (p.Leu277Met) c.382C>A (p.Leu128Met) | |
| 3 | g.49131037C>A | CA352747202 | LAMB2 | c.828G>T (p.Glu276Asp) c.381G>T (p.Glu127Asp) | |
| 3 | g.49131037C= | CA1363342807 | LAMB2 | c.828G= (p.Glu276=) c.381G= (p.Glu127=) | |
| 3 | g.49131037C>G | CA352747206 | LAMB2 | c.828G>C (p.Glu276Asp) c.381G>C (p.Glu127Asp) | |
| 3 | g.49131037C>T | CA433835173 | LAMB2 | c.828G>A (p.Glu276=) c.381G>A (p.Glu127=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49131038T>A | CA352747210 | LAMB2 | c.827A>T (p.Glu276Val) c.380A>T (p.Glu127Val) | |
| 3 | g.49131038T>C | CA352747213 | LAMB2 | c.827A>G (p.Glu276Gly) c.380A>G (p.Glu127Gly) | dbSNP |
| 3 | g.49131038T>G | CA352747221 | LAMB2 | c.827A>C (p.Glu276Ala) c.380A>C (p.Glu127Ala) | |
| 3 | g.49131039C>A | CA352747230 | LAMB2 | c.826G>T (p.Glu276Ter) c.379G>T (p.Glu127Ter) | |
| 3 | g.49131039C>G | CA352747236 | LAMB2 | c.826G>C (p.Glu276Gln) c.379G>C (p.Glu127Gln) | |
| 3 | g.49131039C>T | CA352747234 | LAMB2 | c.826G>A (p.Glu276Lys) c.379G>A (p.Glu127Lys) | |
| 3 | g.49131040A= | CA1363342808 | LAMB2 | c.825T= (p.Tyr275=) c.378T= (p.Tyr126=) | |
| 3 | g.49131040A>C | CA352747237 | LAMB2 | c.825T>G (p.Tyr275Ter) c.378T>G (p.Tyr126Ter) | gnomAD v4 |
| 3 | g.49131040A>G | CA74488529 | LAMB2 | c.825T>C (p.Tyr275=) c.378T>C (p.Tyr126=) | dbSNP |
| 3 | g.49131040A>T | CA2394791 | LAMB2 | c.825T>A (p.Tyr275Ter) c.378T>A (p.Tyr126Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49131041T>A | CA352747253 | LAMB2 | c.824A>T (p.Tyr275Phe) c.377A>T (p.Tyr126Phe) | |
| 3 | g.49131041T>C | CA352747258 | LAMB2 | c.824A>G (p.Tyr275Cys) c.377A>G (p.Tyr126Cys) | COSMIC |
| 3 | g.49131041T>G | CA352747263 | LAMB2 | c.824A>C (p.Tyr275Ser) c.377A>C (p.Tyr126Ser) | ClinVar dbSNP |
| 3 | g.49131042A>C | CA352747274 | LAMB2 | c.823T>G (p.Tyr275Asp) c.376T>G (p.Tyr126Asp) | |
| 3 | g.49131042A>G | CA352747278 | LAMB2 | c.823T>C (p.Tyr275His) c.376T>C (p.Tyr126His) | |
| 3 | g.49131042A>T | CA352747286 | LAMB2 | c.823T>A (p.Tyr275Asn) c.376T>A (p.Tyr126Asn) | |
| 3 | g.49131043G>A | CA433835191 | LAMB2 | c.822C>T (p.Leu274=) c.375C>T (p.Leu125=) | dbSNP |