| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209618555G>A | CA257280 | LAMB3 | c.2806C>T (p.Gln936Ter) c.2614C>T (p.Gln872Ter) c.13C>T (p.Gln5Ter) | ClinVar dbSNP |
| 1 | g.209618555G>C | CA344585156 | LAMB3 | c.2806C>G (p.Gln936Glu) c.2614C>G (p.Gln872Glu) c.13C>G (p.Gln5Glu) | |
| 1 | g.209618555G>T | CA344585155 | LAMB3 | c.2806C>A (p.Gln936Lys) c.2614C>A (p.Gln872Lys) c.13C>A (p.Gln5Lys) | |
| 1 | g.209618556G>A | CA423030085 | LAMB3 | c.2805C>T (p.Ile935=) c.2613C>T (p.Ile871=) c.12C>T (p.Ile4=) | |
| 1 | g.209618556G>C | CA344585157 | LAMB3 | c.2805C>G (p.Ile935Met) c.2613C>G (p.Ile871Met) c.12C>G (p.Ile4Met) | |
| 1 | g.209618556G>T | CA423030087 | LAMB3 | c.2805C>A (p.Ile935=) c.2613C>A (p.Ile871=) c.12C>A (p.Ile4=) | |
| 1 | g.209618557A>C | CA344585160 | LAMB3 | c.2804T>G (p.Ile935Ser) c.2612T>G (p.Ile871Ser) c.11T>G (p.Ile4Ser) | |
| 1 | g.209618557A>G | CA344585158 | LAMB3 | c.2804T>C (p.Ile935Thr) c.2612T>C (p.Ile871Thr) c.11T>C (p.Ile4Thr) | |
| 1 | g.209618557A>T | CA344585159 | LAMB3 | c.2804T>A (p.Ile935Asn) c.2612T>A (p.Ile871Asn) c.11T>A (p.Ile4Asn) | |
| 1 | g.209618558T>A | CA36750224 | LAMB3 | c.2803A>T (p.Ile935Phe) c.2611A>T (p.Ile871Phe) c.10A>T (p.Ile4Phe) | dbSNP |
| 1 | g.209618558T>C | CA344585161 | LAMB3 | c.2803A>G (p.Ile935Val) c.2611A>G (p.Ile871Val) c.10A>G (p.Ile4Val) | |
| 1 | g.209618558T>G | CA344585162 | LAMB3 | c.2803A>C (p.Ile935Leu) c.2611A>C (p.Ile871Leu) c.10A>C (p.Ile4Leu) | |
| 1 | g.209618559C>A | CA1375091 | LAMB3 | c.2802G>T (p.Glu934Asp) c.2610G>T (p.Glu870Asp) c.9G>T (p.Glu3Asp) | dbSNP ExAC gnomAD |
| 1 | g.209618559C>G | CA344585163 | LAMB3 | c.2802G>C (p.Glu934Asp) c.2610G>C (p.Glu870Asp) c.9G>C (p.Glu3Asp) | |
| 1 | g.209618559C>T | CA1375092 | LAMB3 | c.2802G>A (p.Glu934=) c.2610G>A (p.Glu870=) c.9G>A (p.Glu3=) | dbSNP ExAC gnomAD COSMIC |
| 1 | g.209618560T>A | CA344585164 | LAMB3 | c.2801A>T (p.Glu934Val) c.2609A>T (p.Glu870Val) c.8A>T (p.Glu3Val) | |
| 1 | g.209618560T>C | CA344585165 | LAMB3 | c.2801A>G (p.Glu934Gly) c.2609A>G (p.Glu870Gly) c.8A>G (p.Glu3Gly) | |
| 1 | g.209618560T>G | CA1375093 | LAMB3 | c.2801A>C (p.Glu934Ala) c.2609A>C (p.Glu870Ala) c.8A>C (p.Glu3Ala) | dbSNP ExAC gnomAD |
| 1 | g.209618561C>A | CA344585168 | LAMB3 | c.2800G>T (p.Glu934Ter) c.2608G>T (p.Glu870Ter) c.7G>T (p.Glu3Ter) | |
| 1 | g.209618561C>G | CA344585166 | LAMB3 | c.2800G>C (p.Glu934Gln) c.2608G>C (p.Glu870Gln) c.7G>C (p.Glu3Gln) | |
| 1 | g.209618561C>T | CA344585167 | LAMB3 | c.2800G>A (p.Glu934Lys) c.2608G>A (p.Glu870Lys) c.7G>A (p.Glu3Lys) | |
| 1 | g.209618562A>C | CA344585169 | LAMB3 | c.2799T>G (p.Asn933Lys) c.2607T>G (p.Asn869Lys) c.6T>G (p.Asn2Lys) | |
| 1 | g.209618562A>G | CA423030094 | LAMB3 | c.2799T>C (p.Asn933=) c.2607T>C (p.Asn869=) c.6T>C (p.Asn2=) | |
| 1 | g.209618562A>T | CA344585170 | LAMB3 | c.2799T>A (p.Asn933Lys) c.2607T>A (p.Asn869Lys) c.6T>A (p.Asn2Lys) | |
| 1 | g.209618563T>A | CA344585171 | LAMB3 | c.2798A>T (p.Asn933Ile) c.2606A>T (p.Asn869Ile) c.5A>T (p.Asn2Ile) | |
| 1 | g.209618563T>C | CA344585172 | LAMB3 | c.2798A>G (p.Asn933Ser) c.2606A>G (p.Asn869Ser) c.5A>G (p.Asn2Ser) | |
| 1 | g.209618563T>G | CA344585173 | LAMB3 | c.2798A>C (p.Asn933Thr) c.2606A>C (p.Asn869Thr) c.5A>C (p.Asn2Thr) | |
| 1 | g.209618564T>A | CA344585174 | LAMB3 | c.2797A>T (p.Asn933Tyr) c.2605A>T (p.Asn869Tyr) c.4A>T (p.Asn2Tyr) | |
| 1 | g.209618564T>C | CA344585175 | LAMB3 | c.2797A>G (p.Asn933Asp) c.2605A>G (p.Asn869Asp) c.4A>G (p.Asn2Asp) | |
| 1 | g.209618564T>G | CA344585176 | LAMB3 | c.2797A>C (p.Asn933His) c.2605A>C (p.Asn869His) c.4A>C (p.Asn2His) | |
| 1 | g.209618565C>A | CA344585177 | LAMB3 | c.2796G>T (p.Met932Ile) c.2604G>T (p.Met868Ile) c.3G>T | |
| 1 | g.209618565C>G | CA344585178 | LAMB3 | c.2796G>C (p.Met932Ile) c.2604G>C (p.Met868Ile) c.3G>C | |
| 1 | g.209618565C>T | CA344585179 | LAMB3 | c.2796G>A (p.Met932Ile) c.2604G>A (p.Met868Ile) c.3G>A | |
| 1 | g.209618566A>C | CA344585181 | LAMB3 | c.2795T>G (p.Met932Arg) c.2603T>G (p.Met868Arg) c.2T>G | |
| 1 | g.209618566A>G | CA1375094 | LAMB3 | c.2795T>C (p.Met932Thr) c.2603T>C (p.Met868Thr) c.2T>C | dbSNP ExAC gnomAD |
| 1 | g.209618566A>T | CA344585180 | LAMB3 | c.2795T>A (p.Met932Lys) c.2603T>A (p.Met868Lys) c.2T>A | |
| 1 | g.209618567T>A | CA344585182 | LAMB3 | c.2794A>T (p.Met932Leu) c.2602A>T (p.Met868Leu) c.1A>T | |
| 1 | g.209618567T>C | CA344585183 | LAMB3 | c.2794A>G (p.Met932Val) c.2602A>G (p.Met868Val) c.1A>G | |
| 1 | g.209618567T>G | CA344585184 | LAMB3 | c.2794A>C (p.Met932Leu) c.2602A>C (p.Met868Leu) c.1A>C | |
| 1 | g.209618568C>A | CA344585185 | LAMB3 | c.2793G>T (p.Lys931Asn) c.2601G>T (p.Lys867Asn) c.-1G>T (p.=) | |
| 1 | g.209618568C>G | CA344585186 | LAMB3 | c.2793G>C (p.Lys931Asn) c.2601G>C (p.Lys867Asn) c.-1G>C (p.=) | |
| 1 | g.209618568C>T | CA423030098 | LAMB3 | c.2793G>A (p.Lys931=) c.2601G>A (p.Lys867=) c.-1G>A (p.=) | gnomAD |
| 1 | g.209618569T>A | CA344585187 | LAMB3 | c.2792A>T (p.Lys931Met) c.2600A>T (p.Lys867Met) c.-2A>T (p.=) | |
| 1 | g.209618569T>C | CA344585188 | LAMB3 | c.2792A>G (p.Lys931Arg) c.2600A>G (p.Lys867Arg) c.-2A>G (p.=) | |
| 1 | g.209618569T>G | CA344585189 | LAMB3 | c.2792A>C (p.Lys931Thr) c.2600A>C (p.Lys867Thr) c.-2A>C (p.=) | |
| 1 | g.209618570T>A | CA344585190 | LAMB3 | c.2791A>T (p.Lys931Ter) c.2599A>T (p.Lys867Ter) c.-3A>T (p.=) | |
| 1 | g.209618570T>C | CA344585191 | LAMB3 | c.2791A>G (p.Lys931Glu) c.2599A>G (p.Lys867Glu) c.-3A>G (p.=) | |
| 1 | g.209618570T>G | CA344585192 | LAMB3 | c.2791A>C (p.Lys931Gln) c.2599A>C (p.Lys867Gln) c.-3A>C (p.=) | |
| 1 | g.209618571C>A | CA344585193 | LAMB3 | c.2790G>T (p.Gln930His) c.2598G>T (p.Gln866His) c.-4G>T (p.=) | |
| 1 | g.209618571C>G | CA344585194 | LAMB3 | c.2790G>C (p.Gln930His) c.2598G>C (p.Gln866His) c.-4G>C (p.=) |