UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209618555G>A | CA257280 | LAMB3 | c.2806C>T (p.Gln936Ter) c.13C>T (p.Gln5Ter) c.2614C>T (p.Gln872Ter) | ClinVar dbSNP |
| 1 | g.209618555G>C | CA344585156 | LAMB3 | c.2806C>G (p.Gln936Glu) c.13C>G (p.Gln5Glu) c.2614C>G (p.Gln872Glu) | |
| 1 | g.209618555G= | CA1141581351 | LAMB3 | c.2806C= (p.Gln936=) c.13C= (p.Gln5=) c.2614C= (p.Gln872=) | |
| 1 | g.209618555G>T | CA344585155 | LAMB3 | c.2806C>A (p.Gln936Lys) c.13C>A (p.Gln5Lys) c.2614C>A (p.Gln872Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209618556G>A | CA423030085 | LAMB3 | c.2805C>T (p.Ile935=) c.12C>T (p.Ile4=) c.2613C>T (p.Ile871=) | gnomAD v4 |
| 1 | g.209618556G>C | CA344585157 | LAMB3 | c.2805C>G (p.Ile935Met) c.12C>G (p.Ile4Met) c.2613C>G (p.Ile871Met) | |
| 1 | g.209618556G>T | CA423030087 | LAMB3 | c.2805C>A (p.Ile935=) c.12C>A (p.Ile4=) c.2613C>A (p.Ile871=) | |
| 1 | g.209618557A>C | CA344585160 | LAMB3 | c.2804T>G (p.Ile935Ser) c.11T>G (p.Ile4Ser) c.2612T>G (p.Ile871Ser) | gnomAD v4 |
| 1 | g.209618557A>G | CA344585158 | LAMB3 | c.2804T>C (p.Ile935Thr) c.11T>C (p.Ile4Thr) c.2612T>C (p.Ile871Thr) | |
| 1 | g.209618557A>T | CA344585159 | LAMB3 | c.2804T>A (p.Ile935Asn) c.11T>A (p.Ile4Asn) c.2612T>A (p.Ile871Asn) | |
| 1 | g.209618558T>A | CA36750224 | LAMB3 | c.2803A>T (p.Ile935Phe) c.10A>T (p.Ile4Phe) c.2611A>T (p.Ile871Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209618558T>C | CA344585161 | LAMB3 | c.2803A>G (p.Ile935Val) c.10A>G (p.Ile4Val) c.2611A>G (p.Ile871Val) | |
| 1 | g.209618558T>G | CA344585162 | LAMB3 | c.2803A>C (p.Ile935Leu) c.10A>C (p.Ile4Leu) c.2611A>C (p.Ile871Leu) | |
| 1 | g.209618558T= | CA2484296290 | LAMB3 | c.2803A= (p.Ile935=) c.10A= (p.Ile4=) c.2611A= (p.Ile871=) | |
| 1 | g.209618559C>A | CA1375091 | LAMB3 | c.2802G>T (p.Glu934Asp) c.9G>T (p.Glu3Asp) c.2610G>T (p.Glu870Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618559C= | CA2484296291 | LAMB3 | c.2802G= (p.Glu934=) c.9G= (p.Glu3=) c.2610G= (p.Glu870=) | |
| 1 | g.209618559C>G | CA344585163 | LAMB3 | c.2802G>C (p.Glu934Asp) c.9G>C (p.Glu3Asp) c.2610G>C (p.Glu870Asp) | |
| 1 | g.209618559C>T | CA1375092 | LAMB3 | c.2802G>A (p.Glu934=) c.9G>A (p.Glu3=) c.2610G>A (p.Glu870=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209618560T>A | CA344585164 | LAMB3 | c.2801A>T (p.Glu934Val) c.8A>T (p.Glu3Val) c.2609A>T (p.Glu870Val) | dbSNP |
| 1 | g.209618560T>C | CA344585165 | LAMB3 | c.2801A>G (p.Glu934Gly) c.8A>G (p.Glu3Gly) c.2609A>G (p.Glu870Gly) | |
| 1 | g.209618560T>G | CA1375093 | LAMB3 | c.2801A>C (p.Glu934Ala) c.8A>C (p.Glu3Ala) c.2609A>C (p.Glu870Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209618560T= | CA2484296292 | LAMB3 | c.2801A= (p.Glu934=) c.8A= (p.Glu3=) c.2609A= (p.Glu870=) | |
| 1 | g.209618561del | CA2580061993 | LAMB3 | c.2800del (p.Glu934ArgfsTer?) c.7del (p.Glu3ArgfsTer?) c.2608del (p.Glu870ArgfsTer?) | ClinVar |
| 1 | g.209618561C>A | CA344585168 | LAMB3 | c.2800G>T (p.Glu934Ter) c.7G>T (p.Glu3Ter) c.2608G>T (p.Glu870Ter) | |
| 1 | g.209618561C>G | CA344585166 | LAMB3 | c.2800G>C (p.Glu934Gln) c.7G>C (p.Glu3Gln) c.2608G>C (p.Glu870Gln) | |
| 1 | g.209618561C>T | CA344585167 | LAMB3 | c.2800G>A (p.Glu934Lys) c.7G>A (p.Glu3Lys) c.2608G>A (p.Glu870Lys) | gnomAD v4 |
| 1 | g.209618562A= | CA2484296293 | LAMB3 | c.2799T= (p.Asn933=) c.6T= (p.Asn2=) c.2607T= (p.Asn869=) | |
| 1 | g.209618562A>C | CA344585169 | LAMB3 | c.2799T>G (p.Asn933Lys) c.6T>G (p.Asn2Lys) c.2607T>G (p.Asn869Lys) | gnomAD v4 |
| 1 | g.209618562A>G | CA423030094 | LAMB3 | c.2799T>C (p.Asn933=) c.6T>C (p.Asn2=) c.2607T>C (p.Asn869=) | ClinVar dbSNP |
| 1 | g.209618562A>T | CA344585170 | LAMB3 | c.2799T>A (p.Asn933Lys) c.6T>A (p.Asn2Lys) c.2607T>A (p.Asn869Lys) | |
| 1 | g.209618563T>A | CA344585171 | LAMB3 | c.2798A>T (p.Asn933Ile) c.5A>T (p.Asn2Ile) c.2606A>T (p.Asn869Ile) | gnomAD v4 |
| 1 | g.209618563T>C | CA344585172 | LAMB3 | c.2798A>G (p.Asn933Ser) c.5A>G (p.Asn2Ser) c.2606A>G (p.Asn869Ser) | dbSNP gnomAD v4 |
| 1 | g.209618563T>G | CA344585173 | LAMB3 | c.2798A>C (p.Asn933Thr) c.5A>C (p.Asn2Thr) c.2606A>C (p.Asn869Thr) | |
| 1 | g.209618563T= | CA2484296294 | LAMB3 | c.2798A= (p.Asn933=) c.5A= (p.Asn2=) c.2606A= (p.Asn869=) | |
| 1 | g.209618564T>A | CA344585174 | LAMB3 | c.2797A>T (p.Asn933Tyr) c.4A>T (p.Asn2Tyr) c.2605A>T (p.Asn869Tyr) | |
| 1 | g.209618564T>C | CA344585175 | LAMB3 | c.2797A>G (p.Asn933Asp) c.4A>G (p.Asn2Asp) c.2605A>G (p.Asn869Asp) | |
| 1 | g.209618564T>G | CA344585176 | LAMB3 | c.2797A>C (p.Asn933His) c.4A>C (p.Asn2His) c.2605A>C (p.Asn869His) | |
| 1 | g.209618565C>A | CA344585177 | LAMB3 | c.2796G>T (p.Met932Ile) c.3G>T (p.Met1Ile) c.2604G>T (p.Met868Ile) | |
| 1 | g.209618565C>G | CA344585178 | LAMB3 | c.2796G>C (p.Met932Ile) c.3G>C (p.Met1Ile) c.2604G>C (p.Met868Ile) | |
| 1 | g.209618565C>T | CA344585179 | LAMB3 | c.2796G>A (p.Met932Ile) c.3G>A (p.Met1Ile) c.2604G>A (p.Met868Ile) | gnomAD v4 |
| 1 | g.209618566A= | CA1141705368 | LAMB3 | c.2795T= (p.Met932=) c.2T= (p.Met1=) c.2603T= (p.Met868=) | |
| 1 | g.209618566A>C | CA344585181 | LAMB3 | c.2795T>G (p.Met932Arg) c.2T>G (p.Met1Arg) c.2603T>G (p.Met868Arg) | |
| 1 | g.209618566A>G | CA1375094 | LAMB3 | c.2795T>C (p.Met932Thr) c.2T>C (p.Met1Thr) c.2603T>C (p.Met868Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618566A>T | CA344585180 | LAMB3 | c.2795T>A (p.Met932Lys) c.2T>A (p.Met1Lys) c.2603T>A (p.Met868Lys) | |
| 1 | g.209618567T>A | CA344585182 | LAMB3 | c.2794A>T (p.Met932Leu) c.1A>T (p.Met1Leu) c.2602A>T (p.Met868Leu) | |
| 1 | g.209618567T>C | CA344585183 | LAMB3 | c.2794A>G (p.Met932Val) c.1A>G (p.Met1Val) c.2602A>G (p.Met868Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209618567T>G | CA344585184 | LAMB3 | c.2794A>C (p.Met932Leu) c.1A>C (p.Met1Leu) c.2602A>C (p.Met868Leu) | |
| 1 | g.209618567T= | CA2484296295 | LAMB3 | c.2794A= (p.Met932=) c.1A= (p.Met1=) c.2602A= (p.Met868=) | |
| 1 | g.209618568C>A | CA344585185 | LAMB3 | c.2793G>T (p.Lys931Asn) c.-1G>T (n.-1G>T) c.2601G>T (p.Lys867Asn) | |
| 1 | g.209618568C= | CA2484296296 | LAMB3 | c.2793G= (p.Lys931=) c.-1G= (n.-1G=) c.2601G= (p.Lys867=) | |
| 1 | g.209618568C>G | CA344585186 | LAMB3 | c.2793G>C (p.Lys931Asn) c.-1G>C (n.-1G>C) c.2601G>C (p.Lys867Asn) | |
| 1 | g.209618568C>T | CA423030098 | LAMB3 | c.2793G>A (p.Lys931=) c.-1G>A (n.-1G>A) c.2601G>A (p.Lys867=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209618569T>A | CA344585187 | LAMB3 | c.2792A>T (p.Lys931Met) c.-2A>T (n.-2A>T) c.2600A>T (p.Lys867Met) | |
| 1 | g.209618569T>C | CA344585188 | LAMB3 | c.2792A>G (p.Lys931Arg) c.-2A>G (n.-2A>G) c.2600A>G (p.Lys867Arg) | |
| 1 | g.209618569T>G | CA344585189 | LAMB3 | c.2792A>C (p.Lys931Thr) c.-2A>C (n.-2A>C) c.2600A>C (p.Lys867Thr) | |
| 1 | g.209618570T>A | CA344585190 | LAMB3 | c.2791A>T (p.Lys931Ter) c.-3A>T (n.-3A>T) c.2599A>T (p.Lys867Ter) | |
| 1 | g.209618570T>C | CA344585191 | LAMB3 | c.2791A>G (p.Lys931Glu) c.-3A>G (n.-3A>G) c.2599A>G (p.Lys867Glu) | dbSNP |
| 1 | g.209618570T>G | CA344585192 | LAMB3 | c.2791A>C (p.Lys931Gln) c.-3A>C (n.-3A>C) c.2599A>C (p.Lys867Gln) | |
| 1 | g.209618570T= | CA2484296297 | LAMB3 | c.2791A= (p.Lys931=) c.-3A= (n.-3A=) c.2599A= (p.Lys867=) | |
| 1 | g.209618571C>A | CA344585193 | LAMB3 | c.2790G>T (p.Gln930His) c.-4G>T (n.-4G>T) c.2598G>T (p.Gln866His) | |
| 1 | g.209618571C= | CA2484296298 | LAMB3 | c.2790G= (p.Gln930=) c.-4G= (n.-4G=) c.2598G= (p.Gln866=) | |
| 1 | g.209618571C>G | CA344585194 | LAMB3 | c.2790G>C (p.Gln930His) c.-4G>C (n.-4G>C) c.2598G>C (p.Gln866His) | |
| 1 | g.209618571C>T | CA1375095 | LAMB3 | c.2790G>A (p.Gln930=) c.-4G>A (n.-4G>A) c.2598G>A (p.Gln866=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209618572T>A | CA344585195 | LAMB3 | c.2789A>T (p.Gln930Leu) c.-5A>T (n.-5A>T) c.2597A>T (p.Gln866Leu) | |
| 1 | g.209618572T>C | CA344585196 | LAMB3 | c.2789A>G (p.Gln930Arg) c.-5A>G (n.-5A>G) c.2597A>G (p.Gln866Arg) | COSMIC |
| 1 | g.209618572T>G | CA344585197 | LAMB3 | c.2789A>C (p.Gln930Pro) c.-5A>C (n.-5A>C) c.2597A>C (p.Gln866Pro) | dbSNP |
| 1 | g.209618572T= | CA2484296299 | LAMB3 | c.2789A= (p.Gln930=) c.-5A= (n.-5A=) c.2597A= (p.Gln866=) | |
| 1 | g.209618573G>A | CA344585198 | LAMB3 | c.2788C>T (p.Gln930Ter) c.-6C>T (n.-6C>T) c.2596C>T (p.Gln866Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209618573G>C | CA344585199 | LAMB3 | c.2788C>G (p.Gln930Glu) c.-6C>G (n.-6C>G) c.2596C>G (p.Gln866Glu) | |
| 1 | g.209618573G>T | CA344585200 | LAMB3 | c.2788C>A (p.Gln930Lys) c.-6C>A (n.-6C>A) c.2596C>A (p.Gln866Lys) | COSMIC |
| 1 | g.209618574C>A | CA423030108 | LAMB3 | c.2787G>T (p.Leu929=) c.-7G>T (n.-7G>T) c.2595G>T (p.Leu865=) | |
| 1 | g.209618574C>G | CA423030109 | LAMB3 | c.2787G>C (p.Leu929=) c.-7G>C (n.-7G>C) c.2595G>C (p.Leu865=) | |
| 1 | g.209618574C>T | CA423030110 | LAMB3 | c.2787G>A (p.Leu929=) c.-7G>A (n.-7G>A) c.2595G>A (p.Leu865=) | gnomAD v4 |
| 1 | g.209618575A>C | CA344585201 | LAMB3 | c.2786T>G (p.Leu929Arg) c.-8T>G (n.-8T>G) c.2594T>G (p.Leu865Arg) | |
| 1 | g.209618575A>G | CA344585203 | LAMB3 | c.2786T>C (p.Leu929Pro) c.-8T>C (n.-8T>C) c.2594T>C (p.Leu865Pro) | |
| 1 | g.209618575A>T | CA344585202 | LAMB3 | c.2786T>A (p.Leu929Gln) c.-8T>A (n.-8T>A) c.2594T>A (p.Leu865Gln) | |
| 1 | g.209618576G>A | CA423030114 | LAMB3 | c.2785C>T (p.Leu929=) c.-9C>T (n.-9C>T) c.2593C>T (p.Leu865=) | ClinVar dbSNP |
| 1 | g.209618576G>C | CA344585204 | LAMB3 | c.2785C>G (p.Leu929Val) c.-9C>G (n.-9C>G) c.2593C>G (p.Leu865Val) | |
| 1 | g.209618576G>T | CA344585205 | LAMB3 | c.2785C>A (p.Leu929Met) c.-9C>A (n.-9C>A) c.2593C>A (p.Leu865Met) | |
| 1 | g.209618577A>C | CA423030115 | LAMB3 | c.2784T>G (p.Val928=) c.-10T>G (n.-10T>G) c.2592T>G (p.Val864=) | |
| 1 | g.209618577A>G | CA423030116 | LAMB3 | c.2784T>C (p.Val928=) c.-10T>C (n.-10T>C) c.2592T>C (p.Val864=) | |
| 1 | g.209618577A>T | CA423030117 | LAMB3 | c.2784T>A (p.Val928=) c.-10T>A (n.-10T>A) c.2592T>A (p.Val864=) | |
| 1 | g.209618578A>C | CA344585206 | LAMB3 | c.2783T>G (p.Val928Gly) c.-11T>G (n.-11T>G) c.2591T>G (p.Val864Gly) | |
| 1 | g.209618578A>G | CA344585207 | LAMB3 | c.2783T>C (p.Val928Ala) c.-11T>C (n.-11T>C) c.2591T>C (p.Val864Ala) | gnomAD v4 |
| 1 | g.209618578A>T | CA344585208 | LAMB3 | c.2783T>A (p.Val928Asp) c.-11T>A (n.-11T>A) c.2591T>A (p.Val864Asp) | |
| 1 | g.209618579C>A | CA344585210 | LAMB3 | c.2782G>T (p.Val928Phe) c.-12G>T (n.-12G>T) c.2590G>T (p.Val864Phe) | |
| 1 | g.209618579C= | CA2484296300 | LAMB3 | c.2782G= (p.Val928=) c.-12G= (n.-12G=) c.2590G= (p.Val864=) | |
| 1 | g.209618579C>G | CA344585211 | LAMB3 | c.2782G>C (p.Val928Leu) c.-12G>C (n.-12G>C) c.2590G>C (p.Val864Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209618579C>T | CA344585209 | LAMB3 | c.2782G>A (p.Val928Ile) c.-12G>A (n.-12G>A) c.2590G>A (p.Val864Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209618580A= | CA2484296301 | LAMB3 | c.2781T= (p.Thr927=) c.-13T= (n.-13T=) c.2589T= (p.Thr863=) | |
| 1 | g.209618580A>C | CA36750229 | LAMB3 | c.2781T>G (p.Thr927=) c.-13T>G (n.-13T>G) c.2589T>G (p.Thr863=) | dbSNP |
| 1 | g.209618580A>G | CA423030120 | LAMB3 | c.2781T>C (p.Thr927=) c.-13T>C (n.-13T>C) c.2589T>C (p.Thr863=) | |
| 1 | g.209618580A>T | CA423030121 | LAMB3 | c.2781T>A (p.Thr927=) c.-13T>A (n.-13T>A) c.2589T>A (p.Thr863=) | |
| 1 | g.209618581G>A | CA344585212 | LAMB3 | c.2780C>T (p.Thr927Ile) c.-14C>T (n.-14C>T) c.2588C>T (p.Thr863Ile) | |
| 1 | g.209618581G>C | CA344585213 | LAMB3 | c.2780C>G (p.Thr927Ser) c.-14C>G (n.-14C>G) c.2588C>G (p.Thr863Ser) | |
| 1 | g.209618581G>T | CA344585214 | LAMB3 | c.2780C>A (p.Thr927Asn) c.-14C>A (n.-14C>A) c.2588C>A (p.Thr863Asn) | |
| 1 | g.209618582T>A | CA344585215 | LAMB3 | c.2779A>T (p.Thr927Ser) c.-15A>T (n.-15A>T) c.2587A>T (p.Thr863Ser) | |
| 1 | g.209618582T>C | CA1375096 | LAMB3 | c.2779A>G (p.Thr927Ala) c.-15A>G (n.-15A>G) c.2587A>G (p.Thr863Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209618582T>G | CA344585216 | LAMB3 | c.2779A>C (p.Thr927Pro) c.-15A>C (n.-15A>C) c.2587A>C (p.Thr863Pro) | |
| 1 | g.209618582T= | CA2484296302 | LAMB3 | c.2779A= (p.Thr927=) c.-15A= (n.-15A=) c.2587A= (p.Thr863=) | |
| 1 | g.209618583A>C | CA423030123 | LAMB3 | c.2778T>G (p.Ala926=) c.-16T>G (n.-16T>G) c.2586T>G (p.Ala862=) | |
| 1 | g.209618583A>G | CA423030124 | LAMB3 | c.2778T>C (p.Ala926=) c.-16T>C (n.-16T>C) c.2586T>C (p.Ala862=) | ClinVar |
| 1 | g.209618583A>T | CA423030125 | LAMB3 | c.2778T>A (p.Ala926=) c.-16T>A (n.-16T>A) c.2586T>A (p.Ala862=) | |
| 1 | g.209618584G>A | CA344585218 | LAMB3 | c.2777C>T (p.Ala926Val) c.-17C>T (n.-17C>T) c.2585C>T (p.Ala862Val) | |
| 1 | g.209618584G>C | CA344585217 | LAMB3 | c.2777C>G (p.Ala926Gly) c.-17C>G (n.-17C>G) c.2585C>G (p.Ala862Gly) | ClinVar dbSNP |
| 1 | g.209618584G= | CA1139912083 | LAMB3 | c.2777C= (p.Ala926=) c.-17C= (n.-17C=) c.2585C= (p.Ala862=) | |
| 1 | g.209618584G>T | CA1375097 | LAMB3 | c.2777C>A (p.Ala926Asp) c.-17C>A (n.-17C>A) c.2585C>A (p.Ala862Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618585C>A | CA344585219 | LAMB3 | c.2776G>T (p.Ala926Ser) c.-18G>T (n.-18G>T) c.2584G>T (p.Ala862Ser) | |
| 1 | g.209618585C>G | CA344585220 | LAMB3 | c.2776G>C (p.Ala926Pro) c.-18G>C (n.-18G>C) c.2584G>C (p.Ala862Pro) | |
| 1 | g.209618585C>T | CA344585221 | LAMB3 | c.2776G>A (p.Ala926Thr) c.-18G>A (n.-18G>A) c.2584G>A (p.Ala862Thr) | |
| 1 | g.209618586T>A | CA423030127 | LAMB3 | c.2775A>T (p.Ser925=) c.-19A>T (n.-19A>T) c.2583A>T (p.Ser861=) | |
| 1 | g.209618586T>C | CA423030128 | LAMB3 | c.2775A>G (p.Ser925=) c.-19A>G (n.-19A>G) c.2583A>G (p.Ser861=) | |
| 1 | g.209618586T>G | CA423030130 | LAMB3 | c.2775A>C (p.Ser925=) c.-19A>C (n.-19A>C) c.2583A>C (p.Ser861=) | |
| 1 | g.209618587G>A | CA36750234 | LAMB3 | c.2774C>T (p.Ser925Leu) c.-20C>T (n.-20C>T) c.2582C>T (p.Ser861Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209618587G>C | CA344585222 | LAMB3 | c.2774C>G (p.Ser925Ter) c.-20C>G (n.-20C>G) c.2582C>G (p.Ser861Ter) | |
| 1 | g.209618587G= | CA1147672332 | LAMB3 | c.2774C= (p.Ser925=) c.-20C= (n.-20C=) c.2582C= (p.Ser861=) | |
| 1 | g.209618587G>T | CA344585223 | LAMB3 | c.2774C>A (p.Ser925Ter) c.-20C>A (n.-20C>A) c.2582C>A (p.Ser861Ter) | |
| 1 | g.209618588_209618589del | CA2580061994 | LAMB3 | c.2773_2774del (p.Ala926TyrfsTer8) c.-21_-20del (n.-21_-20del) c.2581_2582del (p.Ala862TyrfsTer8) | ClinVar |
| 1 | g.209618588A>C | CA344585224 | LAMB3 | c.2773T>G (p.Ser925Ala) c.-21T>G (n.-21T>G) c.2581T>G (p.Ser861Ala) | gnomAD v4 |
| 1 | g.209618588A>G | CA344585226 | LAMB3 | c.2773T>C (p.Ser925Pro) c.-21T>C (n.-21T>C) c.2581T>C (p.Ser861Pro) | |
| 1 | g.209618588A>T | CA344585225 | LAMB3 | c.2773T>A (p.Ser925Thr) c.-21T>A (n.-21T>A) c.2581T>A (p.Ser861Thr) | |
| 1 | g.209618589G>A | CA423030134 | LAMB3 | c.2772C>T (p.Asp924=) c.-22C>T (n.-22C>T) c.2580C>T (p.Asp860=) | ClinVar dbSNP |
| 1 | g.209618589G>C | CA344585227 | LAMB3 | c.2772C>G (p.Asp924Glu) c.-22C>G (n.-22C>G) c.2580C>G (p.Asp860Glu) | |
| 1 | g.209618589G>T | CA344585228 | LAMB3 | c.2772C>A (p.Asp924Glu) c.-22C>A (n.-22C>A) c.2580C>A (p.Asp860Glu) | |
| 1 | g.209618590T>A | CA344585229 | LAMB3 | c.2771A>T (p.Asp924Val) c.-23A>T (n.-23A>T) c.2579A>T (p.Asp860Val) | dbSNP |
| 1 | g.209618590T>C | CA344585230 | LAMB3 | c.2771A>G (p.Asp924Gly) c.-23A>G (n.-23A>G) c.2579A>G (p.Asp860Gly) | |
| 1 | g.209618590T>G | CA344585231 | LAMB3 | c.2771A>C (p.Asp924Ala) c.-23A>C (n.-23A>C) c.2579A>C (p.Asp860Ala) | gnomAD v4 |
| 1 | g.209618590T= | CA2484296303 | LAMB3 | c.2771A= (p.Asp924=) c.-23A= (n.-23A=) c.2579A= (p.Asp860=) | |
| 1 | g.209618591C>A | CA344585232 | LAMB3 | c.2770G>T (p.Asp924Tyr) c.-24G>T (n.-24G>T) c.2578G>T (p.Asp860Tyr) | |
| 1 | g.209618591C= | CA2484296304 | LAMB3 | c.2770G= (p.Asp924=) c.-24G= (n.-24G=) c.2578G= (p.Asp860=) | |
| 1 | g.209618591C>G | CA344585233 | LAMB3 | c.2770G>C (p.Asp924His) c.-24G>C (n.-24G>C) c.2578G>C (p.Asp860His) | |
| 1 | g.209618591C>T | CA344585234 | LAMB3 | c.2770G>A (p.Asp924Asn) c.-24G>A (n.-24G>A) c.2578G>A (p.Asp860Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618591_209618593delinsCTG | CA2484296305 | LAMB3 | c.2768_2770delinsCAG (p.Thr923=) c.-26_-24delinsCAG (n.-26_-24delinsCAG) c.2576_2578delinsCAG (p.Thr859=) | |
| 1 | g.209618592T>A | CA423030137 | LAMB3 | c.2769A>T (p.Thr923=) c.-25A>T (n.-25A>T) c.2577A>T (p.Thr859=) | |
| 1 | g.209618592T>C | CA423030138 | LAMB3 | c.2769A>G (p.Thr923=) c.-25A>G (n.-25A>G) c.2577A>G (p.Thr859=) | |
| 1 | g.209618592T>G | CA423030139 | LAMB3 | c.2769A>C (p.Thr923=) c.-25A>C (n.-25A>C) c.2577A>C (p.Thr859=) | |
| 1 | g.209618594_209618595del | CA913189882 | LAMB3 | c.2768_2769del (p.Thr923ArgfsTer11) c.-26_-25del (n.-26_-25del) c.2576_2577del (p.Thr859ArgfsTer11) | ClinVar dbSNP |
| 1 | g.209618593G>A | CA344585235 | LAMB3 | c.2768C>T (p.Thr923Ile) c.-26C>T (n.-26C>T) c.2576C>T (p.Thr859Ile) | |
| 1 | g.209618593G>C | CA344585236 | LAMB3 | c.2768C>G (p.Thr923Arg) c.-26C>G (n.-26C>G) c.2576C>G (p.Thr859Arg) | |
| 1 | g.209618593G>T | CA344585237 | LAMB3 | c.2768C>A (p.Thr923Lys) c.-26C>A (n.-26C>A) c.2576C>A (p.Thr859Lys) | |
| 1 | g.209618594T>A | CA344585238 | LAMB3 | c.2767A>T (p.Thr923Ser) c.-27A>T (n.-27A>T) c.2575A>T (p.Thr859Ser) | |
| 1 | g.209618594T>C | CA344585240 | LAMB3 | c.2767A>G (p.Thr923Ala) c.-27A>G (n.-27A>G) c.2575A>G (p.Thr859Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209618594T>G | CA344585239 | LAMB3 | c.2767A>C (p.Thr923Pro) c.-27A>C (n.-27A>C) c.2575A>C (p.Thr859Pro) | dbSNP |
| 1 | g.209618594T= | CA2484296306 | LAMB3 | c.2767A= (p.Thr923=) c.-27A= (n.-27A=) c.2575A= (p.Thr859=) | |
| 1 | g.209618595G>A | CA423030143 | LAMB3 | c.2766C>T (p.Pro922=) c.-28C>T (n.-28C>T) c.2574C>T (p.Pro858=) | |
| 1 | g.209618595G>C | CA423030144 | LAMB3 | c.2766C>G (p.Pro922=) c.-28C>G (n.-28C>G) c.2574C>G (p.Pro858=) | |
| 1 | g.209618595G>T | CA423030145 | LAMB3 | c.2766C>A (p.Pro922=) c.-28C>A (n.-28C>A) c.2574C>A (p.Pro858=) | |
| 1 | g.209618596_209618688del | CA2586967985 | LAMB3 | c.2702-28_2766del c.-120_-28del (n.-120_-28del) c.2510-28_2574del | |
| 1 | g.209618596G>A | CA344585241 | LAMB3 | c.2765C>T (p.Pro922Leu) c.-29C>T (n.-29C>T) c.2573C>T (p.Pro858Leu) | |
| 1 | g.209618596G>C | CA344585242 | LAMB3 | c.2765C>G (p.Pro922Arg) c.-29C>G (n.-29C>G) c.2573C>G (p.Pro858Arg) | |
| 1 | g.209618596G>T | CA344585243 | LAMB3 | c.2765C>A (p.Pro922His) c.-29C>A (n.-29C>A) c.2573C>A (p.Pro858His) | |
| 1 | g.209618597G>A | CA344585244 | LAMB3 | c.2764C>T (p.Pro922Ser) c.-30C>T (n.-30C>T) c.2572C>T (p.Pro858Ser) | gnomAD v4 |
| 1 | g.209618597G>C | CA1375098 | LAMB3 | c.2764C>G (p.Pro922Ala) c.-30C>G (n.-30C>G) c.2572C>G (p.Pro858Ala) | dbSNP ExAC gnomAD v2 |
| 1 | g.209618597G= | CA2484296307 | LAMB3 | c.2764C= (p.Pro922=) c.-30C= (n.-30C=) c.2572C= (p.Pro858=) | |
| 1 | g.209618597G>T | CA344585245 | LAMB3 | c.2764C>A (p.Pro922Thr) c.-30C>A (n.-30C>A) c.2572C>A (p.Pro858Thr) | |
| 1 | g.209618598C>A | CA423030148 | LAMB3 | c.2763G>T (p.Leu921=) c.-31G>T (n.-31G>T) c.2571G>T (p.Leu857=) | |
| 1 | g.209618598C>G | CA423030149 | LAMB3 | c.2763G>C (p.Leu921=) c.-31G>C (n.-31G>C) c.2571G>C (p.Leu857=) | |
| 1 | g.209618598C>T | CA423030150 | LAMB3 | c.2763G>A (p.Leu921=) c.-31G>A (n.-31G>A) c.2571G>A (p.Leu857=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209618599A>C | CA344585246 | LAMB3 | c.2762T>G (p.Leu921Arg) c.-32T>G (n.-32T>G) c.2570T>G (p.Leu857Arg) | |
| 1 | g.209618599A>G | CA344585247 | LAMB3 | c.2762T>C (p.Leu921Pro) c.-32T>C (n.-32T>C) c.2570T>C (p.Leu857Pro) | |
| 1 | g.209618599A>T | CA344585248 | LAMB3 | c.2762T>A (p.Leu921Gln) c.-32T>A (n.-32T>A) c.2570T>A (p.Leu857Gln) | |
| 1 | g.209618600G>A | CA423030153 | LAMB3 | c.2761C>T (p.Leu921=) c.-33C>T (n.-33C>T) c.2569C>T (p.Leu857=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209618600G>C | CA344585249 | LAMB3 | c.2761C>G (p.Leu921Val) c.-33C>G (n.-33C>G) c.2569C>G (p.Leu857Val) | |
| 1 | g.209618600G= | CA1145159424 | LAMB3 | c.2761C= (p.Leu921=) c.-33C= (n.-33C=) c.2569C= (p.Leu857=) | |
| 1 | g.209618600G>T | CA1375099 | LAMB3 | c.2761C>A (p.Leu921Met) c.-33C>A (n.-33C>A) c.2569C>A (p.Leu857Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618601C>A | CA344585252 | LAMB3 | c.2760G>T (p.Trp920Cys) c.-34G>T (n.-34G>T) c.2568G>T (p.Trp856Cys) | |
| 1 | g.209618601C>G | CA344585251 | LAMB3 | c.2760G>C (p.Trp920Cys) c.-34G>C (n.-34G>C) c.2568G>C (p.Trp856Cys) | |
| 1 | g.209618601C>T | CA344585250 | LAMB3 | c.2760G>A (p.Trp920Ter) c.-34G>A (n.-34G>A) c.2568G>A (p.Trp856Ter) | |
| 1 | g.209618602C>A | CA344585253 | LAMB3 | c.2759G>T (p.Trp920Leu) c.-35G>T (n.-35G>T) c.2567G>T (p.Trp856Leu) | |
| 1 | g.209618602C= | CA2484296308 | LAMB3 | c.2759G= (p.Trp920=) c.-35G= (n.-35G=) c.2567G= (p.Trp856=) | |
| 1 | g.209618602C>G | CA344585254 | LAMB3 | c.2759G>C (p.Trp920Ser) c.-35G>C (n.-35G>C) c.2567G>C (p.Trp856Ser) | |
| 1 | g.209618602C>T | CA344585255 | LAMB3 | c.2759G>A (p.Trp920Ter) c.-35G>A (n.-35G>A) c.2567G>A (p.Trp856Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209618603A>C | CA344585256 | LAMB3 | c.2758T>G (p.Trp920Gly) c.-36T>G (n.-36T>G) c.2566T>G (p.Trp856Gly) | |
| 1 | g.209618603A>G | CA344585257 | LAMB3 | c.2758T>C (p.Trp920Arg) c.-36T>C (n.-36T>C) c.2566T>C (p.Trp856Arg) | |
| 1 | g.209618603A>T | CA344585258 | LAMB3 | c.2758T>A (p.Trp920Arg) c.-36T>A (n.-36T>A) c.2566T>A (p.Trp856Arg) | |
| 1 | g.209618603_209618604delinsAC | CA2484296309 | LAMB3 | c.2757_2758delinsGT (p.Leu919=) c.-37_-36delinsGT (n.-37_-36delinsGT) c.2565_2566delinsGT (p.Leu855=) | |
| 1 | g.209618604del | CA529000172 | LAMB3 | c.2757del (p.Trp920GlyfsTer13) c.-37del (n.-37del) c.2565del (p.Trp856GlyfsTer13) | dbSNP gnomAD v2 |
| 1 | g.209618604C>A | CA423030156 | LAMB3 | c.2757G>T (p.Leu919=) c.-37G>T (n.-37G>T) c.2565G>T (p.Leu855=) | |
| 1 | g.209618604C= | CA2484296310 | LAMB3 | c.2757G= (p.Leu919=) c.-37G= (n.-37G=) c.2565G= (p.Leu855=) | |
| 1 | g.209618604C>G | CA423030158 | LAMB3 | c.2757G>C (p.Leu919=) c.-37G>C (n.-37G>C) c.2565G>C (p.Leu855=) | |
| 1 | g.209618604C>T | CA423030160 | LAMB3 | c.2757G>A (p.Leu919=) c.-37G>A (n.-37G>A) c.2565G>A (p.Leu855=) | ClinVar dbSNP |
| 1 | g.209618605A>C | CA344585259 | LAMB3 | c.2756T>G (p.Leu919Arg) c.-38T>G (n.-38T>G) c.2564T>G (p.Leu855Arg) | |
| 1 | g.209618605A>G | CA344585260 | LAMB3 | c.2756T>C (p.Leu919Pro) c.-38T>C (n.-38T>C) c.2564T>C (p.Leu855Pro) | gnomAD v4 |
| 1 | g.209618605A>T | CA344585261 | LAMB3 | c.2756T>A (p.Leu919Gln) c.-38T>A (n.-38T>A) c.2564T>A (p.Leu855Gln) | |
| 1 | g.209618606G>A | CA1375100 | LAMB3 | c.2755C>T (p.Leu919=) c.-39C>T (n.-39C>T) c.2563C>T (p.Leu855=) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.209618606G>C | CA344585262 | LAMB3 | c.2755C>G (p.Leu919Val) c.-39C>G (n.-39C>G) c.2563C>G (p.Leu855Val) | |
| 1 | g.209618606G= | CA2484296311 | LAMB3 | c.2755C= (p.Leu919=) c.-39C= (n.-39C=) c.2563C= (p.Leu855=) | |
| 1 | g.209618606G>T | CA344585263 | LAMB3 | c.2755C>A (p.Leu919Met) c.-39C>A (n.-39C>A) c.2563C>A (p.Leu855Met) | |
| 1 | g.209618607G>A | CA1375101 | LAMB3 | c.2754C>T (p.Ala918=) c.-40C>T (n.-40C>T) c.2562C>T (p.Ala854=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618607G>C | CA423030166 | LAMB3 | c.2754C>G (p.Ala918=) c.-40C>G (n.-40C>G) c.2562C>G (p.Ala854=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209618607G= | CA1146556821 | LAMB3 | c.2754C= (p.Ala918=) c.-40C= (n.-40C=) c.2562C= (p.Ala854=) | |
| 1 | g.209618607G>T | CA423030165 | LAMB3 | c.2754C>A (p.Ala918=) c.-40C>A (n.-40C>A) c.2562C>A (p.Ala854=) | COSMIC |
| 1 | g.209618608G>A | CA36750247 | LAMB3 | c.2753C>T (p.Ala918Val) c.-41C>T (n.-41C>T) c.2561C>T (p.Ala854Val) | dbSNP |
| 1 | g.209618608G>C | CA36750250 | LAMB3 | c.2753C>G (p.Ala918Gly) c.-41C>G (n.-41C>G) c.2561C>G (p.Ala854Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209618608G= | CA1143484231 | LAMB3 | c.2753C= (p.Ala918=) c.-41C= (n.-41C=) c.2561C= (p.Ala854=) | |
| 1 | g.209618608G>T | CA344585264 | LAMB3 | c.2753C>A (p.Ala918Asp) c.-41C>A (n.-41C>A) c.2561C>A (p.Ala854Asp) | |
| 1 | g.209618609C>A | CA344585265 | LAMB3 | c.2752G>T (p.Ala918Ser) c.-42G>T (n.-42G>T) c.2560G>T (p.Ala854Ser) | |
| 1 | g.209618609C= | CA2484296312 | LAMB3 | c.2752G= (p.Ala918=) c.-42G= (n.-42G=) c.2560G= (p.Ala854=) | |
| 1 | g.209618609C>G | CA344585266 | LAMB3 | c.2752G>C (p.Ala918Pro) c.-42G>C (n.-42G>C) c.2560G>C (p.Ala854Pro) | |
| 1 | g.209618609C>T | CA344585267 | LAMB3 | c.2752G>A (p.Ala918Thr) c.-42G>A (n.-42G>A) c.2560G>A (p.Ala854Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209618610C>A | CA423030167 | LAMB3 | c.2751G>T (p.Leu917=) c.-43G>T (n.-43G>T) c.2559G>T (p.Leu853=) | ClinVar |
| 1 | g.209618610C>G | CA423030168 | LAMB3 | c.2751G>C (p.Leu917=) c.-43G>C (n.-43G>C) c.2559G>C (p.Leu853=) | |
| 1 | g.209618610C>T | CA423030170 | LAMB3 | c.2751G>A (p.Leu917=) c.-43G>A (n.-43G>A) c.2559G>A (p.Leu853=) | ClinVar |
| 1 | g.209618611A= | CA2484296313 | LAMB3 | c.2750T= (p.Leu917=) c.-44T= (n.-44T=) c.2558T= (p.Leu853=) | |
| 1 | g.209618611A>C | CA344585268 | LAMB3 | c.2750T>G (p.Leu917Arg) c.-44T>G (n.-44T>G) c.2558T>G (p.Leu853Arg) | |
| 1 | g.209618611A>G | CA344585269 | LAMB3 | c.2750T>C (p.Leu917Pro) c.-44T>C (n.-44T>C) c.2558T>C (p.Leu853Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209618611A>T | CA344585270 | LAMB3 | c.2750T>A (p.Leu917Gln) c.-44T>A (n.-44T>A) c.2558T>A (p.Leu853Gln) | |
| 1 | g.209618612G>A | CA423030173 | LAMB3 | c.2749C>T (p.Leu917=) c.-45C>T (n.-45C>T) c.2557C>T (p.Leu853=) | |
| 1 | g.209618612G>C | CA344585271 | LAMB3 | c.2749C>G (p.Leu917Val) c.-45C>G (n.-45C>G) c.2557C>G (p.Leu853Val) | |
| 1 | g.209618612G>T | CA344585272 | LAMB3 | c.2749C>A (p.Leu917Met) c.-45C>A (n.-45C>A) c.2557C>A (p.Leu853Met) | |
| 1 | g.209618613C>A | CA423030174 | LAMB3 | c.2748G>T (p.Val916=) c.-46G>T (n.-46G>T) c.2556G>T (p.Val852=) | |
| 1 | g.209618613C= | CA2484296314 | LAMB3 | c.2748G= (p.Val916=) c.-46G= (n.-46G=) c.2556G= (p.Val852=) | |
| 1 | g.209618613C>G | CA1375102 | LAMB3 | c.2748G>C (p.Val916=) c.-46G>C (n.-46G>C) c.2556G>C (p.Val852=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209618613C>T | CA423030175 | LAMB3 | c.2748G>A (p.Val916=) c.-46G>A (n.-46G>A) c.2556G>A (p.Val852=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209618614A= | CA2484296315 | LAMB3 | c.2747T= (p.Val916=) c.-47T= (n.-47T=) c.2555T= (p.Val852=) | |
| 1 | g.209618614A>C | CA344585273 | LAMB3 | c.2747T>G (p.Val916Gly) c.-47T>G (n.-47T>G) c.2555T>G (p.Val852Gly) | |
| 1 | g.209618614A>G | CA1375103 | LAMB3 | c.2747T>C (p.Val916Ala) c.-47T>C (n.-47T>C) c.2555T>C (p.Val852Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209618614A>T | CA344585274 | LAMB3 | c.2747T>A (p.Val916Glu) c.-47T>A (n.-47T>A) c.2555T>A (p.Val852Glu) | |
| 1 | g.209618615C>A | CA344585275 | LAMB3 | c.2746G>T (p.Val916Leu) c.-48G>T (n.-48G>T) c.2554G>T (p.Val852Leu) | |
| 1 | g.209618615C= | CA1142028142 | LAMB3 | c.2746G= (p.Val916=) c.-48G= (n.-48G=) c.2554G= (p.Val852=) | |
| 1 | g.209618615C>G | CA344585276 | LAMB3 | c.2746G>C (p.Val916Leu) c.-48G>C (n.-48G>C) c.2554G>C (p.Val852Leu) | |
| 1 | g.209618615C>T | CA1375104 | LAMB3 | c.2746G>A (p.Val916Met) c.-48G>A (n.-48G>A) c.2554G>A (p.Val852Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618616G>A | CA1375105 | LAMB3 | c.2745C>T (p.Ala915=) c.-49C>T (n.-49C>T) c.2553C>T (p.Ala851=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618616G>C | CA423030178 | LAMB3 | c.2745C>G (p.Ala915=) c.-49C>G (n.-49C>G) c.2553C>G (p.Ala851=) | |
| 1 | g.209618616G= | CA1143419052 | LAMB3 | c.2745C= (p.Ala915=) c.-49C= (n.-49C=) c.2553C= (p.Ala851=) | |
| 1 | g.209618616G>T | CA423030180 | LAMB3 | c.2745C>A (p.Ala915=) c.-49C>A (n.-49C>A) c.2553C>A (p.Ala851=) | gnomAD v4 |
| 1 | g.209618617G>A | CA344585277 | LAMB3 | c.2744C>T (p.Ala915Val) c.-50C>T (n.-50C>T) c.2552C>T (p.Ala851Val) | gnomAD v4 |
| 1 | g.209618617G>C | CA344585278 | LAMB3 | c.2744C>G (p.Ala915Gly) c.-50C>G (n.-50C>G) c.2552C>G (p.Ala851Gly) | |
| 1 | g.209618617G>T | CA344585279 | LAMB3 | c.2744C>A (p.Ala915Asp) c.-50C>A (n.-50C>A) c.2552C>A (p.Ala851Asp) | |
| 1 | g.209618618C>A | CA344585280 | LAMB3 | c.2743G>T (p.Ala915Ser) c.-51G>T (n.-51G>T) c.2551G>T (p.Ala851Ser) | |
| 1 | g.209618618C>G | CA344585281 | LAMB3 | c.2743G>C (p.Ala915Pro) c.-51G>C (n.-51G>C) c.2551G>C (p.Ala851Pro) | |
| 1 | g.209618618C>T | CA344585282 | LAMB3 | c.2743G>A (p.Ala915Thr) c.-51G>A (n.-51G>A) c.2551G>A (p.Ala851Thr) | |
| 1 | g.209618619C>A | CA344585283 | LAMB3 | c.2742G>T (p.Glu914Asp) c.-52G>T (n.-52G>T) c.2550G>T (p.Glu850Asp) | |
| 1 | g.209618619C>G | CA344585284 | LAMB3 | c.2742G>C (p.Glu914Asp) c.-52G>C (n.-52G>C) c.2550G>C (p.Glu850Asp) | |
| 1 | g.209618619C>T | CA423030181 | LAMB3 | c.2742G>A (p.Glu914=) c.-52G>A (n.-52G>A) c.2550G>A (p.Glu850=) | |
| 1 | g.209618620T>A | CA344585285 | LAMB3 | c.2741A>T (p.Glu914Val) c.-53A>T (n.-53A>T) c.2549A>T (p.Glu850Val) | |
| 1 | g.209618620T>C | CA344585286 | LAMB3 | c.2741A>G (p.Glu914Gly) c.-53A>G (n.-53A>G) c.2549A>G (p.Glu850Gly) | |
| 1 | g.209618620T>G | CA344585287 | LAMB3 | c.2741A>C (p.Glu914Ala) c.-53A>C (n.-53A>C) c.2549A>C (p.Glu850Ala) | |
| 1 | g.209618621C>A | CA344585288 | LAMB3 | c.2740G>T (p.Glu914Ter) c.-54G>T (n.-54G>T) c.2548G>T (p.Glu850Ter) | |
| 1 | g.209618621C= | CA2484296316 | LAMB3 | c.2740G= (p.Glu914=) c.-54G= (n.-54G=) c.2548G= (p.Glu850=) | |
| 1 | g.209618621C>G | CA344585289 | LAMB3 | c.2740G>C (p.Glu914Gln) c.-54G>C (n.-54G>C) c.2548G>C (p.Glu850Gln) | dbSNP |
| 1 | g.209618621C>T | CA1375106 | LAMB3 | c.2740G>A (p.Glu914Lys) c.-54G>A (n.-54G>A) c.2548G>A (p.Glu850Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209618622G>A | CA1375107 | LAMB3 | c.2739C>T (p.Ser913=) c.-55C>T (n.-55C>T) c.2547C>T (p.Ser849=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618622G>C | CA344585291 | LAMB3 | c.2739C>G (p.Ser913Arg) c.-55C>G (n.-55C>G) c.2547C>G (p.Ser849Arg) | gnomAD v4 |
| 1 | g.209618622G= | CA1146349967 | LAMB3 | c.2739C= (p.Ser913=) c.-55C= (n.-55C=) c.2547C= (p.Ser849=) | |
| 1 | g.209618622G>T | CA344585290 | LAMB3 | c.2739C>A (p.Ser913Arg) c.-55C>A (n.-55C>A) c.2547C>A (p.Ser849Arg) | gnomAD v4 |
| 1 | g.209618623C>A | CA344585292 | LAMB3 | c.2738G>T (p.Ser913Ile) c.-56G>T (n.-56G>T) c.2546G>T (p.Ser849Ile) | |
| 1 | g.209618623C>G | CA344585293 | LAMB3 | c.2738G>C (p.Ser913Thr) c.-56G>C (n.-56G>C) c.2546G>C (p.Ser849Thr) | |
| 1 | g.209618623C>T | CA344585294 | LAMB3 | c.2738G>A (p.Ser913Asn) c.-56G>A (n.-56G>A) c.2546G>A (p.Ser849Asn) | gnomAD v4 |
| 1 | g.209618624T>A | CA344585295 | LAMB3 | c.2737A>T (p.Ser913Cys) c.-57A>T (n.-57A>T) c.2545A>T (p.Ser849Cys) | |
| 1 | g.209618624T>C | CA344585296 | LAMB3 | c.2737A>G (p.Ser913Gly) c.-57A>G (n.-57A>G) c.2545A>G (p.Ser849Gly) | |
| 1 | g.209618624T>G | CA344585297 | LAMB3 | c.2737A>C (p.Ser913Arg) c.-57A>C (n.-57A>C) c.2545A>C (p.Ser849Arg) | |
| 1 | g.209618625G>A | CA423030186 | LAMB3 | c.2736C>T (p.Val912=) c.-58C>T (n.-58C>T) c.2544C>T (p.Val848=) | gnomAD v4 |
| 1 | g.209618625G>C | CA423030185 | LAMB3 | c.2736C>G (p.Val912=) c.-58C>G (n.-58C>G) c.2544C>G (p.Val848=) | |
| 1 | g.209618625G>T | CA423030184 | LAMB3 | c.2736C>A (p.Val912=) c.-58C>A (n.-58C>A) c.2544C>A (p.Val848=) | |
| 1 | g.209618626A>C | CA344585300 | LAMB3 | c.2735T>G (p.Val912Gly) c.-59T>G (n.-59T>G) c.2543T>G (p.Val848Gly) | COSMIC |
| 1 | g.209618626A>G | CA344585298 | LAMB3 | c.2735T>C (p.Val912Ala) c.-59T>C (n.-59T>C) c.2543T>C (p.Val848Ala) | |
| 1 | g.209618626A>T | CA344585299 | LAMB3 | c.2735T>A (p.Val912Asp) c.-59T>A (n.-59T>A) c.2543T>A (p.Val848Asp) | |
| 1 | g.209618627C>A | CA344585301 | LAMB3 | c.2734G>T (p.Val912Phe) c.-60G>T (n.-60G>T) c.2542G>T (p.Val848Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209618627C= | CA2484296317 | LAMB3 | c.2734G= (p.Val912=) c.-60G= (n.-60G=) c.2542G= (p.Val848=) | |
| 1 | g.209618627C>G | CA344585302 | LAMB3 | c.2734G>C (p.Val912Leu) c.-60G>C (n.-60G>C) c.2542G>C (p.Val848Leu) | gnomAD v4 |
| 1 | g.209618627C>T | CA344585303 | LAMB3 | c.2734G>A (p.Val912Ile) c.-60G>A (n.-60G>A) c.2542G>A (p.Val848Ile) | |
| 1 | g.209618630_209618632del | CA2650320627 | LAMB3 | c.2732_2734del (p.Glu911del) c.-62_-60del (n.-62_-60del) c.2540_2542del (p.Glu847del) | gnomAD v4 |
| 1 | g.209618628C>A | CA344585304 | LAMB3 | c.2733G>T (p.Glu911Asp) c.-61G>T (n.-61G>T) c.2541G>T (p.Glu847Asp) | |
| 1 | g.209618628C>G | CA344585305 | LAMB3 | c.2733G>C (p.Glu911Asp) c.-61G>C (n.-61G>C) c.2541G>C (p.Glu847Asp) | |
| 1 | g.209618628C>T | CA423030188 | LAMB3 | c.2733G>A (p.Glu911=) c.-61G>A (n.-61G>A) c.2541G>A (p.Glu847=) | |
| 1 | g.209618629T>A | CA344585306 | LAMB3 | c.2732A>T (p.Glu911Val) c.-62A>T (n.-62A>T) c.2540A>T (p.Glu847Val) | |
| 1 | g.209618629T>C | CA344585308 | LAMB3 | c.2732A>G (p.Glu911Gly) c.-62A>G (n.-62A>G) c.2540A>G (p.Glu847Gly) | |
| 1 | g.209618629T>G | CA344585307 | LAMB3 | c.2732A>C (p.Glu911Ala) c.-62A>C (n.-62A>C) c.2540A>C (p.Glu847Ala) | |
| 1 | g.209618630C>A | CA344585309 | LAMB3 | c.2731G>T (p.Glu911Ter) c.-63G>T (n.-63G>T) c.2539G>T (p.Glu847Ter) | |
| 1 | g.209618630C>G | CA344585310 | LAMB3 | c.2731G>C (p.Glu911Gln) c.-63G>C (n.-63G>C) c.2539G>C (p.Glu847Gln) | |
| 1 | g.209618630C>T | CA344585311 | LAMB3 | c.2731G>A (p.Glu911Lys) c.-63G>A (n.-63G>A) c.2539G>A (p.Glu847Lys) | gnomAD v4 COSMIC |
| 1 | g.209618631C>A | CA344585312 | LAMB3 | c.2730G>T (p.Gln910His) c.-64G>T (n.-64G>T) c.2538G>T (p.Gln846His) | |
| 1 | g.209618631C>G | CA344585313 | LAMB3 | c.2730G>C (p.Gln910His) c.-64G>C (n.-64G>C) c.2538G>C (p.Gln846His) | |
| 1 | g.209618631C>T | CA423030189 | LAMB3 | c.2730G>A (p.Gln910=) c.-64G>A (n.-64G>A) c.2538G>A (p.Gln846=) | |
| 1 | g.209618632T>A | CA344585314 | LAMB3 | c.2729A>T (p.Gln910Leu) c.-65A>T (n.-65A>T) c.2537A>T (p.Gln846Leu) | |
| 1 | g.209618632T>C | CA344585315 | LAMB3 | c.2729A>G (p.Gln910Arg) c.-65A>G (n.-65A>G) c.2537A>G (p.Gln846Arg) | |
| 1 | g.209618632T>G | CA344585316 | LAMB3 | c.2729A>C (p.Gln910Pro) c.-65A>C (n.-65A>C) c.2537A>C (p.Gln846Pro) | |
| 1 | g.209618633G>A | CA344585317 | LAMB3 | c.2728C>T (p.Gln910Ter) c.-66C>T (n.-66C>T) c.2536C>T (p.Gln846Ter) | |
| 1 | g.209618633G>C | CA1375108 | LAMB3 | c.2728C>G (p.Gln910Glu) c.-66C>G (n.-66C>G) c.2536C>G (p.Gln846Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618633G= | CA1147752094 | LAMB3 | c.2728C= (p.Gln910=) c.-66C= (n.-66C=) c.2536C= (p.Gln846=) | |
| 1 | g.209618633G>T | CA344585318 | LAMB3 | c.2728C>A (p.Gln910Lys) c.-66C>A (n.-66C>A) c.2536C>A (p.Gln846Lys) | |
| 1 | g.209618634G>A | CA423030190 | LAMB3 | c.2727C>T (p.Ile909=) c.-67C>T (n.-67C>T) c.2535C>T (p.Ile845=) | gnomAD v4 |
| 1 | g.209618634G>C | CA344585319 | LAMB3 | c.2727C>G (p.Ile909Met) c.-67C>G (n.-67C>G) c.2535C>G (p.Ile845Met) | |
| 1 | g.209618634G>T | CA423030191 | LAMB3 | c.2727C>A (p.Ile909=) c.-67C>A (n.-67C>A) c.2535C>A (p.Ile845=) | |
| 1 | g.209618635A>C | CA344585322 | LAMB3 | c.2726T>G (p.Ile909Ser) c.-68T>G (n.-68T>G) c.2534T>G (p.Ile845Ser) | |
| 1 | g.209618635A>G | CA344585321 | LAMB3 | c.2726T>C (p.Ile909Thr) c.-68T>C (n.-68T>C) c.2534T>C (p.Ile845Thr) | |
| 1 | g.209618635A>T | CA344585320 | LAMB3 | c.2726T>A (p.Ile909Asn) c.-68T>A (n.-68T>A) c.2534T>A (p.Ile845Asn) | gnomAD v4 |
| 1 | g.209618636T>A | CA344585323 | LAMB3 | c.2725A>T (p.Ile909Phe) c.-69A>T (n.-69A>T) c.2533A>T (p.Ile845Phe) | |
| 1 | g.209618636T>C | CA344585325 | LAMB3 | c.2725A>G (p.Ile909Val) c.-69A>G (n.-69A>G) c.2533A>G (p.Ile845Val) | dbSNP gnomAD v4 |
| 1 | g.209618636T>G | CA344585324 | LAMB3 | c.2725A>C (p.Ile909Leu) c.-69A>C (n.-69A>C) c.2533A>C (p.Ile845Leu) | |
| 1 | g.209618636T= | CA2484296318 | LAMB3 | c.2725A= (p.Ile909=) c.-69A= (n.-69A=) c.2533A= (p.Ile845=) | |
| 1 | g.209618636_209618654dup | CA2650320628 | LAMB3 | c.2707_2725dup (p.Ile909ArgfsTer3) c.-87_-69dup (n.-87_-69dup) c.2515_2533dup (p.Ile845ArgfsTer3) | gnomAD v4 |
| 1 | g.209618637A= | CA2484296319 | LAMB3 | c.2724T= (p.Thr908=) c.-70T= (n.-70T=) c.2532T= (p.Thr844=) | |
| 1 | g.209618637A>C | CA423030193 | LAMB3 | c.2724T>G (p.Thr908=) c.-70T>G (n.-70T>G) c.2532T>G (p.Thr844=) | |
| 1 | g.209618637A>G | CA423030194 | LAMB3 | c.2724T>C (p.Thr908=) c.-70T>C (n.-70T>C) c.2532T>C (p.Thr844=) | |
| 1 | g.209618637A>T | CA423030195 | LAMB3 | c.2724T>A (p.Thr908=) c.-70T>A (n.-70T>A) c.2532T>A (p.Thr844=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209618638G>A | CA1375109 | LAMB3 | c.2723C>T (p.Thr908Ile) c.-71C>T (n.-71C>T) c.2531C>T (p.Thr844Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618638G>C | CA344585327 | LAMB3 | c.2723C>G (p.Thr908Ser) c.-71C>G (n.-71C>G) c.2531C>G (p.Thr844Ser) | |
| 1 | g.209618638G= | CA1140726407 | LAMB3 | c.2723C= (p.Thr908=) c.-71C= (n.-71C=) c.2531C= (p.Thr844=) | |
| 1 | g.209618638G>T | CA344585326 | LAMB3 | c.2723C>A (p.Thr908Asn) c.-71C>A (n.-71C>A) c.2531C>A (p.Thr844Asn) | |
| 1 | g.209618639T>A | CA344585328 | LAMB3 | c.2722A>T (p.Thr908Ser) c.-72A>T (n.-72A>T) c.2530A>T (p.Thr844Ser) | |
| 1 | g.209618639T>C | CA344585330 | LAMB3 | c.2722A>G (p.Thr908Ala) c.-72A>G (n.-72A>G) c.2530A>G (p.Thr844Ala) | dbSNP COSMIC |
| 1 | g.209618639T>G | CA344585329 | LAMB3 | c.2722A>C (p.Thr908Pro) c.-72A>C (n.-72A>C) c.2530A>C (p.Thr844Pro) | |
| 1 | g.209618639T= | CA2484296320 | LAMB3 | c.2722A= (p.Thr908=) c.-72A= (n.-72A=) c.2530A= (p.Thr844=) | |
| 1 | g.209618640G>A | CA423030197 | LAMB3 | c.2721C>T (p.Ala907=) c.-73C>T (n.-73C>T) c.2529C>T (p.Ala843=) | |
| 1 | g.209618640G>C | CA423030198 | LAMB3 | c.2721C>G (p.Ala907=) c.-73C>G (n.-73C>G) c.2529C>G (p.Ala843=) | |
| 1 | g.209618640G>T | CA423030199 | LAMB3 | c.2721C>A (p.Ala907=) c.-73C>A (n.-73C>A) c.2529C>A (p.Ala843=) | |
| 1 | g.209618641G>A | CA344585331 | LAMB3 | c.2720C>T (p.Ala907Val) c.-74C>T (n.-74C>T) c.2528C>T (p.Ala843Val) | COSMIC |
| 1 | g.209618641G>C | CA1375111 | LAMB3 | c.2720C>G (p.Ala907Gly) c.-74C>G (n.-74C>G) c.2528C>G (p.Ala843Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618641G= | CA1148454175 | LAMB3 | c.2720C= (p.Ala907=) c.-74C= (n.-74C=) c.2528C= (p.Ala843=) | |
| 1 | g.209618641G>T | CA1375110 | LAMB3 | c.2720C>A (p.Ala907Asp) c.-74C>A (n.-74C>A) c.2528C>A (p.Ala843Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209618642C>A | CA344585332 | LAMB3 | c.2719G>T (p.Ala907Ser) c.-75G>T (n.-75G>T) c.2527G>T (p.Ala843Ser) | |
| 1 | g.209618642C>G | CA344585333 | LAMB3 | c.2719G>C (p.Ala907Pro) c.-75G>C (n.-75G>C) c.2527G>C (p.Ala843Pro) | |
| 1 | g.209618642C>T | CA344585334 | LAMB3 | c.2719G>A (p.Ala907Thr) c.-75G>A (n.-75G>A) c.2527G>A (p.Ala843Thr) | |
| 1 | g.209618643T>A | CA423030204 | LAMB3 | c.2718A>T (p.Ala906=) c.-76A>T (n.-76A>T) c.2526A>T (p.Ala842=) | |
| 1 | g.209618643T>C | CA423030203 | LAMB3 | c.2718A>G (p.Ala906=) c.-76A>G (n.-76A>G) c.2526A>G (p.Ala842=) | |
| 1 | g.209618643T>G | CA423030201 | LAMB3 | c.2718A>C (p.Ala906=) c.-76A>C (n.-76A>C) c.2526A>C (p.Ala842=) | |
| 1 | g.209618644G>A | CA344585335 | LAMB3 | c.2717C>T (p.Ala906Val) c.-77C>T (n.-77C>T) c.2525C>T (p.Ala842Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209618644G>C | CA344585336 | LAMB3 | c.2717C>G (p.Ala906Gly) c.-77C>G (n.-77C>G) c.2525C>G (p.Ala842Gly) | |
| 1 | g.209618644G= | CA2484296321 | LAMB3 | c.2717C= (p.Ala906=) c.-77C= (n.-77C=) c.2525C= (p.Ala842=) | |
| 1 | g.209618644G>T | CA344585337 | LAMB3 | c.2717C>A (p.Ala906Glu) c.-77C>A (n.-77C>A) c.2525C>A (p.Ala842Glu) | |
| 1 | g.209618645C>A | CA344585338 | LAMB3 | c.2716G>T (p.Ala906Ser) c.-78G>T (n.-78G>T) c.2524G>T (p.Ala842Ser) | |
| 1 | g.209618645C>G | CA344585339 | LAMB3 | c.2716G>C (p.Ala906Pro) c.-78G>C (n.-78G>C) c.2524G>C (p.Ala842Pro) | |
| 1 | g.209618645C>T | CA344585340 | LAMB3 | c.2716G>A (p.Ala906Thr) c.-78G>A (n.-78G>A) c.2524G>A (p.Ala842Thr) | |
| 1 | g.209618646A>C | CA344585341 | LAMB3 | c.2715T>G (p.Asp905Glu) c.-79T>G (n.-79T>G) c.2523T>G (p.Asp841Glu) | |
| 1 | g.209618646A>G | CA423030206 | LAMB3 | c.2715T>C (p.Asp905=) c.-79T>C (n.-79T>C) c.2523T>C (p.Asp841=) | gnomAD v4 |
| 1 | g.209618646A>T | CA344585342 | LAMB3 | c.2715T>A (p.Asp905Glu) c.-79T>A (n.-79T>A) c.2523T>A (p.Asp841Glu) | |
| 1 | g.209618647T>A | CA344585345 | LAMB3 | c.2714A>T (p.Asp905Val) c.-80A>T (n.-80A>T) c.2522A>T (p.Asp841Val) | |
| 1 | g.209618647T>C | CA344585344 | LAMB3 | c.2714A>G (p.Asp905Gly) c.-80A>G (n.-80A>G) c.2522A>G (p.Asp841Gly) | |
| 1 | g.209618647T>G | CA344585343 | LAMB3 | c.2714A>C (p.Asp905Ala) c.-80A>C (n.-80A>C) c.2522A>C (p.Asp841Ala) | |
| 1 | g.209618648C>A | CA344585346 | LAMB3 | c.2713G>T (p.Asp905Tyr) c.-81G>T (n.-81G>T) c.2521G>T (p.Asp841Tyr) | |
| 1 | g.209618648C>G | CA344585347 | LAMB3 | c.2713G>C (p.Asp905His) c.-81G>C (n.-81G>C) c.2521G>C (p.Asp841His) | |
| 1 | g.209618648C>T | CA344585348 | LAMB3 | c.2713G>A (p.Asp905Asn) c.-81G>A (n.-81G>A) c.2521G>A (p.Asp841Asn) | |
| 1 | g.209618649A>C | CA423030207 | LAMB3 | c.2712T>G (p.Thr904=) c.-82T>G (n.-82T>G) c.2520T>G (p.Thr840=) | |
| 1 | g.209618649A>G | CA423030208 | LAMB3 | c.2712T>C (p.Thr904=) c.-82T>C (n.-82T>C) c.2520T>C (p.Thr840=) | |
| 1 | g.209618649A>T | CA423030209 | LAMB3 | c.2712T>A (p.Thr904=) c.-82T>A (n.-82T>A) c.2520T>A (p.Thr840=) | |
| 1 | g.209618649dup | CA2740090489 | LAMB3 | c.2712dup (p.Asp905Ter) c.-82dup (n.-82dup) c.2520dup (p.Asp841Ter) | ClinVar |
| 1 | g.209618650G>A | CA344585349 | LAMB3 | c.2711C>T (p.Thr904Ile) c.-83C>T (n.-83C>T) c.2519C>T (p.Thr840Ile) | |
| 1 | g.209618650G>C | CA344585350 | LAMB3 | c.2711C>G (p.Thr904Ser) c.-83C>G (n.-83C>G) c.2519C>G (p.Thr840Ser) | |
| 1 | g.209618650G= | CA2484296322 | LAMB3 | c.2711C= (p.Thr904=) c.-83C= (n.-83C=) c.2519C= (p.Thr840=) | |
| 1 | g.209618650G>T | CA36750269 | LAMB3 | c.2711C>A (p.Thr904Asn) c.-83C>A (n.-83C>A) c.2519C>A (p.Thr840Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618651T>A | CA344585351 | LAMB3 | c.2710A>T (p.Thr904Ser) c.-84A>T (n.-84A>T) c.2518A>T (p.Thr840Ser) | |
| 1 | g.209618651T>C | CA344585352 | LAMB3 | c.2710A>G (p.Thr904Ala) c.-84A>G (n.-84A>G) c.2518A>G (p.Thr840Ala) | |
| 1 | g.209618651T>G | CA344585353 | LAMB3 | c.2710A>C (p.Thr904Pro) c.-84A>C (n.-84A>C) c.2518A>C (p.Thr840Pro) | |
| 1 | g.209618652G>A | CA423030210 | LAMB3 | c.2709C>T (p.Asp903=) c.-85C>T (n.-85C>T) c.2517C>T (p.Asp839=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618652G>C | CA344585354 | LAMB3 | c.2709C>G (p.Asp903Glu) c.-85C>G (n.-85C>G) c.2517C>G (p.Asp839Glu) | |
| 1 | g.209618652G= | CA2484296323 | LAMB3 | c.2709C= (p.Asp903=) c.-85C= (n.-85C=) c.2517C= (p.Asp839=) | |
| 1 | g.209618652G>T | CA344585355 | LAMB3 | c.2709C>A (p.Asp903Glu) c.-85C>A (n.-85C>A) c.2517C>A (p.Asp839Glu) | gnomAD v4 |
| 1 | g.209618653T>A | CA344585358 | LAMB3 | c.2708A>T (p.Asp903Val) c.-86A>T (n.-86A>T) c.2516A>T (p.Asp839Val) | |
| 1 | g.209618653T>C | CA344585357 | LAMB3 | c.2708A>G (p.Asp903Gly) c.-86A>G (n.-86A>G) c.2516A>G (p.Asp839Gly) | |
| 1 | g.209618653T>G | CA344585356 | LAMB3 | c.2708A>C (p.Asp903Ala) c.-86A>C (n.-86A>C) c.2516A>C (p.Asp839Ala) | |
| 1 | g.209618654C>A | CA344585359 | LAMB3 | c.2707G>T (p.Asp903Tyr) c.-87G>T (n.-87G>T) c.2515G>T (p.Asp839Tyr) | |
| 1 | g.209618654C= | CA2484296324 | LAMB3 | c.2707G= (p.Asp903=) c.-87G= (n.-87G=) c.2515G= (p.Asp839=) | |
| 1 | g.209618654C>G | CA344585360 | LAMB3 | c.2707G>C (p.Asp903His) c.-87G>C (n.-87G>C) c.2515G>C (p.Asp839His) | |
| 1 | g.209618654C>T | CA36750270 | LAMB3 | c.2707G>A (p.Asp903Asn) c.-87G>A (n.-87G>A) c.2515G>A (p.Asp839Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618655G>A | CA1375112 | LAMB3 | c.2706C>T (p.Pro902=) c.-88C>T (n.-88C>T) c.2514C>T (p.Pro838=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209618655G>C | CA423030211 | LAMB3 | c.2706C>G (p.Pro902=) c.-88C>G (n.-88C>G) c.2514C>G (p.Pro838=) | |
| 1 | g.209618655G= | CA2484296325 | LAMB3 | c.2706C= (p.Pro902=) c.-88C= (n.-88C=) c.2514C= (p.Pro838=) | |
| 1 | g.209618655G>T | CA423030212 | LAMB3 | c.2706C>A (p.Pro902=) c.-88C>A (n.-88C>A) c.2514C>A (p.Pro838=) | dbSNP |
| 1 | g.209618658dup | CA2580061995 | LAMB3 | c.2706dup (p.Asp903ArgfsTer3) c.-88dup (n.-88dup) c.2514dup (p.Asp839ArgfsTer3) | ClinVar |
| 1 | g.209618658del | CA529000173 | LAMB3 | c.2706del (p.Asp903ThrfsTer?) c.-88del (n.-88del) c.2514del (p.Asp839ThrfsTer?) | gnomAD v2 gnomAD v4 |