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 |
|---|---|---|---|---|---|
| 3 | g.49130237_49130239del | CA2702729340 | LAMB2 | c.1217_1219del (p.Val406_Cys407delinsGly) | dbSNP |
| 3 | g.49130239A= | CA1363342441 | LAMB2 | c.1217T= (p.Val406=) | |
| 3 | g.49130239A>C | CA352742768 | LAMB2 | c.1217T>G (p.Val406Gly) | |
| 3 | g.49130239A>G | CA352742777 | LAMB2 | c.1217T>C (p.Val406Ala) | dbSNP gnomAD v4 |
| 3 | g.49130239A>T | CA352742780 | LAMB2 | c.1217T>A (p.Val406Glu) | |
| 3 | g.49130240C>A | CA352742783 | LAMB2 | c.1216G>T (p.Val406Leu) | |
| 3 | g.49130240C= | CA1363342442 | LAMB2 | c.1216G= (p.Val406=) | |
| 3 | g.49130240C>G | CA2394666 | LAMB2 | c.1216G>C (p.Val406Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49130240C>T | CA352742787 | LAMB2 | c.1216G>A (p.Val406Met) | dbSNP |
| 3 | g.49130241A>C | CA433835008 | LAMB2 | c.1215T>G (p.Ala405=) | |
| 3 | g.49130241A>G | CA433835009 | LAMB2 | c.1215T>C (p.Ala405=) | |
| 3 | g.49130241A>T | CA433835010 | LAMB2 | c.1215T>A (p.Ala405=) | |
| 3 | g.49130242G>A | CA352742789 | LAMB2 | c.1214C>T (p.Ala405Val) | gnomAD v4 |
| 3 | g.49130242G>C | CA352742792 | LAMB2 | c.1214C>G (p.Ala405Gly) | |
| 3 | g.49130242G>T | CA352742795 | LAMB2 | c.1214C>A (p.Ala405Asp) | |
| 3 | g.49130243C>A | CA352742798 | LAMB2 | c.1213G>T (p.Ala405Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130243C= | CA1363342443 | LAMB2 | c.1213G= (p.Ala405=) | |
| 3 | g.49130243C>G | CA352742801 | LAMB2 | c.1213G>C (p.Ala405Pro) | |
| 3 | g.49130243C>T | CA352742803 | LAMB2 | c.1213G>A (p.Ala405Thr) | |
| 3 | g.49130244C>A | CA433835017 | LAMB2 | c.1212G>T (p.Pro404=) | gnomAD v4 |
| 3 | g.49130244C= | CA1363342444 | LAMB2 | c.1212G= (p.Pro404=) | |
| 3 | g.49130244C>G | CA74487364 | LAMB2 | c.1212G>C (p.Pro404=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49130244C>T | CA2394667 | LAMB2 | c.1212G>A (p.Pro404=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49130244_49130245delinsCG | CA1363342445 | LAMB2 | c.1211_1212delinsCG (p.Pro404=) | |
| 3 | g.49130245G>A | CA2394668 | LAMB2 | c.1211C>T (p.Pro404Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130245G>C | CA352742809 | LAMB2 | c.1211C>G (p.Pro404Arg) | |
| 3 | g.49130245G= | CA1363342447 | LAMB2 | c.1211C= (p.Pro404=) | |
| 3 | g.49130245G>T | CA352742813 | LAMB2 | c.1211C>A (p.Pro404Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130246del | CA1363342446 | LAMB2 | c.1211del (p.Pro404ArgfsTer?) | dbSNP |
| 3 | g.49130245_49130248del | CA2702729408 | LAMB2 | c.1208_1211del (p.Asp403GlyfsTer?) | dbSNP |
| 3 | g.49130246G>A | CA352742819 | LAMB2 | c.1210C>T (p.Pro404Ser) | |
| 3 | g.49130246G>C | CA352742821 | LAMB2 | c.1210C>G (p.Pro404Ala) | |
| 3 | g.49130246G= | CA1363342448 | LAMB2 | c.1210C= (p.Pro404=) | |
| 3 | g.49130246G>T | CA352742822 | LAMB2 | c.1210C>A (p.Pro404Thr) | dbSNP gnomAD v4 |
| 3 | g.49130247A= | CA1363342449 | LAMB2 | c.1209T= (p.Asp403=) | |
| 3 | g.49130247A>C | CA352742823 | LAMB2 | c.1209T>G (p.Asp403Glu) | |
| 3 | g.49130247A>G | CA433835033 | LAMB2 | c.1209T>C (p.Asp403=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49130247A>T | CA352742824 | LAMB2 | c.1209T>A (p.Asp403Glu) | |
| 3 | g.49130248T>A | CA352742826 | LAMB2 | c.1208A>T (p.Asp403Val) | |
| 3 | g.49130248T>C | CA352742831 | LAMB2 | c.1208A>G (p.Asp403Gly) | |
| 3 | g.49130248T>G | CA352742829 | LAMB2 | c.1208A>C (p.Asp403Ala) | |
| 3 | g.49130249C>A | CA352742834 | LAMB2 | c.1207G>T (p.Asp403Tyr) | |
| 3 | g.49130249C>G | CA352742835 | LAMB2 | c.1207G>C (p.Asp403His) | |
| 3 | g.49130249C>T | CA352742836 | LAMB2 | c.1207G>A (p.Asp403Asn) | |
| 3 | g.49130250C>A | CA433835052 | LAMB2 | c.1206G>T (p.Arg402=) | |
| 3 | g.49130250C= | CA1363342450 | LAMB2 | c.1206G= (p.Arg402=) | |
| 3 | g.49130250C>G | CA433835055 | LAMB2 | c.1206G>C (p.Arg402=) | |
| 3 | g.49130250C>T | CA2394669 | LAMB2 | c.1206G>A (p.Arg402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130251C>A | CA352742838 | LAMB2 | c.1205G>T (p.Arg402Leu) | gnomAD v4 |
| 3 | g.49130251C= | CA1363342451 | LAMB2 | c.1205G= (p.Arg402=) | |
| 3 | g.49130251C>G | CA352742841 | LAMB2 | c.1205G>C (p.Arg402Pro) | |
| 3 | g.49130251C>T | CA2394670 | LAMB2 | c.1205G>A (p.Arg402Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130252_49130253del | CA2702729424 | LAMB2 | c.1204_1205del (p.Arg402GlyfsTer9) | dbSNP |
| 3 | g.49130252G>A | CA2394671 | LAMB2 | c.1204C>T (p.Arg402Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.49130252G>C | CA352742845 | LAMB2 | c.1204C>G (p.Arg402Gly) | |
| 3 | g.49130252G= | CA1363342452 | LAMB2 | c.1204C= (p.Arg402=) | |
| 3 | g.49130252G>T | CA433835065 | LAMB2 | c.1204C>A (p.Arg402=) | |
| 3 | g.49130253C>A | CA433835068 | LAMB2 | c.1203G>T (p.Leu401=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130253C= | CA1363342453 | LAMB2 | c.1203G= (p.Leu401=) | |
| 3 | g.49130253C>G | CA433835069 | LAMB2 | c.1203G>C (p.Leu401=) | |
| 3 | g.49130253C>T | CA433835070 | LAMB2 | c.1203G>A (p.Leu401=) | COSMIC |
| 3 | g.49130254A>C | CA352742848 | LAMB2 | c.1202T>G (p.Leu401Arg) | |
| 3 | g.49130254A>G | CA352742849 | LAMB2 | c.1202T>C (p.Leu401Pro) | |
| 3 | g.49130254A>T | CA352742852 | LAMB2 | c.1202T>A (p.Leu401Gln) | |
| 3 | g.49130255G>A | CA433835077 | LAMB2 | c.1201C>T (p.Leu401=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49130255G>C | CA2394672 | LAMB2 | c.1201C>G (p.Leu401Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130255G= | CA1363342454 | LAMB2 | c.1201C= (p.Leu401=) | |
| 3 | g.49130255G>T | CA352742854 | LAMB2 | c.1201C>A (p.Leu401Met) | |
| 3 | g.49130256G>A | CA433835087 | LAMB2 | c.1200C>T (p.Asp400=) | |
| 3 | g.49130256G>C | CA352742858 | LAMB2 | c.1200C>G (p.Asp400Glu) | |
| 3 | g.49130256G>T | CA352742860 | LAMB2 | c.1200C>A (p.Asp400Glu) | gnomAD v4 |
| 3 | g.49130257T>A | CA352742864 | LAMB2 | c.1199A>T (p.Asp400Val) | |
| 3 | g.49130257T>C | CA352742867 | LAMB2 | c.1199A>G (p.Asp400Gly) | |
| 3 | g.49130257T>G | CA352742868 | LAMB2 | c.1199A>C (p.Asp400Ala) | |
| 3 | g.49130258C>A | CA352742873 | LAMB2 | c.1198G>T (p.Asp400Tyr) | |
| 3 | g.49130258C= | CA1363342455 | LAMB2 | c.1198G= (p.Asp400=) | |
| 3 | g.49130258C>G | CA352742876 | LAMB2 | c.1198G>C (p.Asp400His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130258C>T | CA352742871 | LAMB2 | c.1198G>A (p.Asp400Asn) | |
| 3 | g.49130259C>A | CA352742880 | LAMB2 | c.1197G>T (p.Lys399Asn) | |
| 3 | g.49130259C= | CA1363342456 | LAMB2 | c.1197G= (p.Lys399=) | |
| 3 | g.49130259C>G | CA352742878 | LAMB2 | c.1197G>C (p.Lys399Asn) | |
| 3 | g.49130259C>T | CA433835098 | LAMB2 | c.1197G>A (p.Lys399=) | dbSNP |
| 3 | g.49130260T>A | CA352742883 | LAMB2 | c.1196A>T (p.Lys399Met) | |
| 3 | g.49130260T>C | CA2394673 | LAMB2 | c.1196A>G (p.Lys399Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49130260T>G | CA352742886 | LAMB2 | c.1196A>C (p.Lys399Thr) | |
| 3 | g.49130260T= | CA1363342457 | LAMB2 | c.1196A= (p.Lys399=) | |
| 3 | g.49130261T>A | CA352742888 | LAMB2 | c.1195A>T (p.Lys399Ter) | |
| 3 | g.49130261T>C | CA352742889 | LAMB2 | c.1195A>G (p.Lys399Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130261T>G | CA352742892 | LAMB2 | c.1195A>C (p.Lys399Gln) | |
| 3 | g.49130261T= | CA1363342458 | LAMB2 | c.1195A= (p.Lys399=) | |
| 3 | g.49130262G>A | CA433835109 | LAMB2 | c.1194C>T (p.Thr398=) | |
| 3 | g.49130262G>C | CA2394674 | LAMB2 | c.1194C>G (p.Thr398=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49130262G= | CA1363342459 | LAMB2 | c.1194C= (p.Thr398=) | |
| 3 | g.49130262G>T | CA433835113 | LAMB2 | c.1194C>A (p.Thr398=) | |
| 3 | g.49130263G>A | CA2394675 | LAMB2 | c.1193C>T (p.Thr398Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130263G>C | CA352742896 | LAMB2 | c.1193C>G (p.Thr398Ser) | |
| 3 | g.49130263G= | CA1363342460 | LAMB2 | c.1193C= (p.Thr398=) | |
| 3 | g.49130263G>T | CA352742898 | LAMB2 | c.1193C>A (p.Thr398Asn) | gnomAD v4 |
| 3 | g.49130264T>A | CA352742900 | LAMB2 | c.1192A>T (p.Thr398Ser) | |
| 3 | g.49130264T>C | CA2394676 | LAMB2 | c.1192A>G (p.Thr398Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130264T>G | CA352742901 | LAMB2 | c.1192A>C (p.Thr398Pro) | |
| 3 | g.49130264T= | CA1363342461 | LAMB2 | c.1192A= (p.Thr398=) | |
| 3 | g.49130265T>A | CA433835129 | LAMB2 | c.1191A>T (p.Pro397=) | |
| 3 | g.49130265T>C | CA433835130 | LAMB2 | c.1191A>G (p.Pro397=) | |
| 3 | g.49130265T>G | CA433835132 | LAMB2 | c.1191A>C (p.Pro397=) | |
| 3 | g.49130266G>A | CA352742902 | LAMB2 | c.1190C>T (p.Pro397Leu) | |
| 3 | g.49130266G>C | CA352742905 | LAMB2 | c.1190C>G (p.Pro397Arg) | |
| 3 | g.49130266G>T | CA352742903 | LAMB2 | c.1190C>A (p.Pro397Gln) | |
| 3 | g.49130267G>A | CA352742907 | LAMB2 | c.1189C>T (p.Pro397Ser) | gnomAD v4 |
| 3 | g.49130267G>C | CA352742909 | LAMB2 | c.1189C>G (p.Pro397Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130267G= | CA1363342462 | LAMB2 | c.1189C= (p.Pro397=) | |
| 3 | g.49130267G>T | CA352742911 | LAMB2 | c.1189C>A (p.Pro397Thr) | dbSNP gnomAD v2 |
| 3 | g.49130268G>A | CA433835135 | LAMB2 | c.1188C>T (p.Asp396=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130268G>C | CA352742914 | LAMB2 | c.1188C>G (p.Asp396Glu) | |
| 3 | g.49130268G= | CA1363342463 | LAMB2 | c.1188C= (p.Asp396=) | |
| 3 | g.49130268G>T | CA352742915 | LAMB2 | c.1188C>A (p.Asp396Glu) | |
| 3 | g.49130269T>A | CA352742917 | LAMB2 | c.1187A>T (p.Asp396Val) | |
| 3 | g.49130269T>C | CA352742919 | LAMB2 | c.1187A>G (p.Asp396Gly) | |
| 3 | g.49130269T>G | CA352742921 | LAMB2 | c.1187A>C (p.Asp396Ala) | |
| 3 | g.49130270C>A | CA352742923 | LAMB2 | c.1186G>T (p.Asp396Tyr) | |
| 3 | g.49130270C>G | CA352742924 | LAMB2 | c.1186G>C (p.Asp396His) | |
| 3 | g.49130270C>T | CA352742925 | LAMB2 | c.1186G>A (p.Asp396Asn) | |
| 3 | g.49130271A>C | CA433835151 | LAMB2 | c.1185T>G (p.Arg395=) | |
| 3 | g.49130271A>G | CA433835150 | LAMB2 | c.1185T>C (p.Arg395=) | |
| 3 | g.49130271A>T | CA433835145 | LAMB2 | c.1185T>A (p.Arg395=) | |
| 3 | g.49130272C>A | CA352742927 | LAMB2 | c.1184G>T (p.Arg395Leu) | dbSNP |
| 3 | g.49130272C= | CA1363342464 | LAMB2 | c.1184G= (p.Arg395=) | |
| 3 | g.49130272C>G | CA352742926 | LAMB2 | c.1184G>C (p.Arg395Pro) | |
| 3 | g.49130272C>T | CA2394677 | LAMB2 | c.1184G>A (p.Arg395His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130273G>A | CA74487407 | LAMB2 | c.1183C>T (p.Arg395Cys) | dbSNP gnomAD v4 |
| 3 | g.49130273G>C | CA352742928 | LAMB2 | c.1183C>G (p.Arg395Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.49130273G= | CA1363342465 | LAMB2 | c.1183C= (p.Arg395=) | |
| 3 | g.49130273G>T | CA352742929 | LAMB2 | c.1183C>A (p.Arg395Ser) | |
| 3 | g.49130274del | CA2665698885 | LAMB2 | c.1183del (p.Arg395ValfsTer?) | gnomAD v4 |
| 3 | g.49130274G>A | CA433835165 | LAMB2 | c.1182C>T (p.Tyr394=) | |
| 3 | g.49130274G>C | CA352742930 | LAMB2 | c.1182C>G (p.Tyr394Ter) | |
| 3 | g.49130274G>T | CA352742931 | LAMB2 | c.1182C>A (p.Tyr394Ter) | |
| 3 | g.49130275T>A | CA352742933 | LAMB2 | c.1181A>T (p.Tyr394Phe) | |
| 3 | g.49130275T>C | CA352742934 | LAMB2 | c.1181A>G (p.Tyr394Cys) | |
| 3 | g.49130275T>G | CA352742936 | LAMB2 | c.1181A>C (p.Tyr394Ser) | |
| 3 | g.49130275_49130278delinsTAGA | CA1363342466 | LAMB2 | c.1178_1181delinsTCTA (p.Phe393=) | |
| 3 | g.49130276A>C | CA352742939 | LAMB2 | c.1180T>G (p.Tyr394Asp) | |
| 3 | g.49130276A>G | CA352742940 | LAMB2 | c.1180T>C (p.Tyr394His) | |
| 3 | g.49130276A>T | CA352742942 | LAMB2 | c.1180T>A (p.Tyr394Asn) | |
| 3 | g.49130281_49130283del | CA74487412 | LAMB2 | c.1178_1180del (p.Phe393del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130277G>A | CA433835169 | LAMB2 | c.1179C>T (p.Phe393=) | gnomAD v4 |
| 3 | g.49130277G>C | CA352742944 | LAMB2 | c.1179C>G (p.Phe393Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130277G= | CA1363342467 | LAMB2 | c.1179C= (p.Phe393=) | |
| 3 | g.49130277G>T | CA352742947 | LAMB2 | c.1179C>A (p.Phe393Leu) | |
| 3 | g.49130278A>C | CA352742952 | LAMB2 | c.1178T>G (p.Phe393Cys) | gnomAD v4 |
| 3 | g.49130278A>G | CA352742954 | LAMB2 | c.1178T>C (p.Phe393Ser) | |
| 3 | g.49130278A>T | CA352742949 | LAMB2 | c.1178T>A (p.Phe393Tyr) | |
| 3 | g.49130279A>C | CA352742957 | LAMB2 | c.1177T>G (p.Phe393Val) | |
| 3 | g.49130279A>G | CA352742960 | LAMB2 | c.1177T>C (p.Phe393Leu) | |
| 3 | g.49130279A>T | CA352742962 | LAMB2 | c.1177T>A (p.Phe393Ile) | |
| 3 | g.49130280G>A | CA433835180 | LAMB2 | c.1176C>T (p.Phe392=) | gnomAD v4 |
| 3 | g.49130280G>C | CA352742963 | LAMB2 | c.1176C>G (p.Phe392Leu) | |
| 3 | g.49130280G>T | CA352742965 | LAMB2 | c.1176C>A (p.Phe392Leu) | |
| 3 | g.49130281A>C | CA352742976 | LAMB2 | c.1175T>G (p.Phe392Cys) | |
| 3 | g.49130281A>G | CA352742969 | LAMB2 | c.1175T>C (p.Phe392Ser) | |
| 3 | g.49130281A>T | CA352742973 | LAMB2 | c.1175T>A (p.Phe392Tyr) | |
| 3 | g.49130282A>C | CA352742980 | LAMB2 | c.1174T>G (p.Phe392Val) | |
| 3 | g.49130282A>G | CA352742983 | LAMB2 | c.1174T>C (p.Phe392Leu) | |
| 3 | g.49130282A>T | CA352742986 | LAMB2 | c.1174T>A (p.Phe392Ile) | |
| 3 | g.49130283G>A | CA433835193 | LAMB2 | c.1173C>T (p.Pro391=) | gnomAD v4 |
| 3 | g.49130283G>C | CA433835199 | LAMB2 | c.1173C>G (p.Pro391=) | |
| 3 | g.49130283G>T | CA433835210 | LAMB2 | c.1173C>A (p.Pro391=) | |
| 3 | g.49130284G>A | CA352742988 | LAMB2 | c.1172C>T (p.Pro391Leu) | |
| 3 | g.49130284G>C | CA352742991 | LAMB2 | c.1172C>G (p.Pro391Arg) | |
| 3 | g.49130284G>T | CA352742993 | LAMB2 | c.1172C>A (p.Pro391His) | |
| 3 | g.49130285G>A | CA352742998 | LAMB2 | c.1171C>T (p.Pro391Ser) | gnomAD v4 COSMIC |
| 3 | g.49130285G>C | CA352743000 | LAMB2 | c.1171C>G (p.Pro391Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49130285G= | CA1363342468 | LAMB2 | c.1171C= (p.Pro391=) | |
| 3 | g.49130285G>T | CA352742996 | LAMB2 | c.1171C>A (p.Pro391Thr) | |
| 3 | g.49130286C>A | CA433835215 | LAMB2 | c.1170G>T (p.Arg390=) | |
| 3 | g.49130286C>G | CA433835216 | LAMB2 | c.1170G>C (p.Arg390=) | |
| 3 | g.49130286C>T | CA433835217 | LAMB2 | c.1170G>A (p.Arg390=) | |
| 3 | g.49130287C>A | CA352743003 | LAMB2 | c.1169G>T (p.Arg390Leu) | dbSNP gnomAD v4 |
| 3 | g.49130287C= | CA1363342469 | LAMB2 | c.1169G= (p.Arg390=) | |
| 3 | g.49130287C>G | CA352743005 | LAMB2 | c.1169G>C (p.Arg390Pro) | |
| 3 | g.49130287C>T | CA2394678 | LAMB2 | c.1169G>A (p.Arg390Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130288G>A | CA2394679 | LAMB2 | c.1168C>T (p.Arg390Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130288G>C | CA352743020 | LAMB2 | c.1168C>G (p.Arg390Gly) | |
| 3 | g.49130288G= | CA1363342470 | LAMB2 | c.1168C= (p.Arg390=) | |
| 3 | g.49130288G>T | CA433835229 | LAMB2 | c.1168C>A (p.Arg390=) | |
| 3 | g.49130289A>C | CA352743023 | LAMB2 | c.1167T>G (p.Cys389Trp) | |
| 3 | g.49130289A>G | CA433835230 | LAMB2 | c.1167T>C (p.Cys389=) | |
| 3 | g.49130289A>T | CA352743024 | LAMB2 | c.1167T>A (p.Cys389Ter) | |
| 3 | g.49130290C>A | CA352743030 | LAMB2 | c.1166G>T (p.Cys389Phe) | |
| 3 | g.49130290C>G | CA352743032 | LAMB2 | c.1166G>C (p.Cys389Ser) | |
| 3 | g.49130290C>T | CA352743034 | LAMB2 | c.1166G>A (p.Cys389Tyr) | |
| 3 | g.49130290_49130292delinsCAG | CA1363342471 | LAMB2 | c.1164_1166delinsCTG (p.Leu388=) | |
| 3 | g.49130291A= | CA1363342472 | LAMB2 | c.1165T= (p.Cys389=) | |
| 3 | g.49130291A>C | CA352743040 | LAMB2 | c.1165T>G (p.Cys389Gly) | |
| 3 | g.49130291A>G | CA2394680 | LAMB2 | c.1165T>C (p.Cys389Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.49130291A>T | CA352743043 | LAMB2 | c.1165T>A (p.Cys389Ser) | gnomAD v4 |
| 3 | g.49130293_49130294del | CA543048701 | LAMB2 | c.1164_1165del (p.Cys389SerfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130292G>A | CA433835242 | LAMB2 | c.1164C>T (p.Leu388=) | |
| 3 | g.49130292G>C | CA433835244 | LAMB2 | c.1164C>G (p.Leu388=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49130292G= | CA1363342473 | LAMB2 | c.1164C= (p.Leu388=) | |
| 3 | g.49130292G>T | CA433835245 | LAMB2 | c.1164C>A (p.Leu388=) | |
| 3 | g.49130293del | CA2577594459 | LAMB2 | c.1163del (p.Leu388ProfsTer?) | |
| 3 | g.49130293A>C | CA352743046 | LAMB2 | c.1163T>G (p.Leu388Arg) | |
| 3 | g.49130293A>G | CA352743049 | LAMB2 | c.1163T>C (p.Leu388Pro) | |
| 3 | g.49130293A>T | CA352743053 | LAMB2 | c.1163T>A (p.Leu388His) | |
| 3 | g.49130294G>A | CA352743055 | LAMB2 | c.1162C>T (p.Leu388Phe) | |
| 3 | g.49130294G>C | CA352743062 | LAMB2 | c.1162C>G (p.Leu388Val) | |
| 3 | g.49130294G>T | CA352743058 | LAMB2 | c.1162C>A (p.Leu388Ile) | |
| 3 | g.49130295C>A | CA352743067 | LAMB2 | c.1161G>T (p.Glu387Asp) | |
| 3 | g.49130295C>G | CA352743068 | LAMB2 | c.1161G>C (p.Glu387Asp) | |
| 3 | g.49130295C>T | CA433835253 | LAMB2 | c.1161G>A (p.Glu387=) | |
| 3 | g.49130296T>A | CA352743071 | LAMB2 | c.1160A>T (p.Glu387Val) | |
| 3 | g.49130296T>C | CA352743072 | LAMB2 | c.1160A>G (p.Glu387Gly) | |
| 3 | g.49130296T>G | CA352743075 | LAMB2 | c.1160A>C (p.Glu387Ala) | |
| 3 | g.49130297C>A | CA352743079 | LAMB2 | c.1159G>T (p.Glu387Ter) | |
| 3 | g.49130297C>G | CA352743081 | LAMB2 | c.1159G>C (p.Glu387Gln) | |
| 3 | g.49130297C>T | CA352743084 | LAMB2 | c.1159G>A (p.Glu387Lys) | gnomAD v4 |
| 3 | g.49130298A>C | CA352743088 | LAMB2 | c.1158T>G (p.Cys386Trp) | gnomAD v4 |
| 3 | g.49130298A>G | CA433835276 | LAMB2 | c.1158T>C (p.Cys386=) | |
| 3 | g.49130298A>T | CA352743091 | LAMB2 | c.1158T>A (p.Cys386Ter) | |
| 3 | g.49130299C>A | CA352743107 | LAMB2 | c.1157G>T (p.Cys386Phe) | gnomAD v4 |
| 3 | g.49130299C>G | CA352743106 | LAMB2 | c.1157G>C (p.Cys386Ser) | |
| 3 | g.49130299C>T | CA352743094 | LAMB2 | c.1157G>A (p.Cys386Tyr) | |
| 3 | g.49130300A= | CA1363342474 | LAMB2 | c.1156T= (p.Cys386=) | |
| 3 | g.49130300A>C | CA352743111 | LAMB2 | c.1156T>G (p.Cys386Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130300A>G | CA74487423 | LAMB2 | c.1156T>C (p.Cys386Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.49130300A>T | CA352743114 | LAMB2 | c.1156T>A (p.Cys386Ser) | |
| 3 | g.49130301G>A | CA433835279 | LAMB2 | c.1155C>T (p.His385=) | |
| 3 | g.49130301G>C | CA352743118 | LAMB2 | c.1155C>G (p.His385Gln) | |
| 3 | g.49130301G>T | CA352743122 | LAMB2 | c.1155C>A (p.His385Gln) | |
| 3 | g.49130302T>A | CA352743128 | LAMB2 | c.1154A>T (p.His385Leu) | |
| 3 | g.49130302T>C | CA2394681 | LAMB2 | c.1154A>G (p.His385Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130302T>G | CA352743124 | LAMB2 | c.1154A>C (p.His385Pro) | |
| 3 | g.49130302T= | CA1363342475 | LAMB2 | c.1154A= (p.His385=) | |
| 3 | g.49130303G>A | CA352743130 | LAMB2 | c.1153C>T (p.His385Tyr) | |
| 3 | g.49130303G>C | CA352743133 | LAMB2 | c.1153C>G (p.His385Asp) | |
| 3 | g.49130303G>T | CA352743135 | LAMB2 | c.1153C>A (p.His385Asn) | |
| 3 | g.49130304G>A | CA433835288 | LAMB2 | c.1152C>T (p.Arg384=) | |
| 3 | g.49130304G>C | CA433835290 | LAMB2 | c.1152C>G (p.Arg384=) | |
| 3 | g.49130304G>T | CA433835289 | LAMB2 | c.1152C>A (p.Arg384=) | |
| 3 | g.49130305C>A | CA352743138 | LAMB2 | c.1151G>T (p.Arg384Leu) | |
| 3 | g.49130305C= | CA1363342476 | LAMB2 | c.1151G= (p.Arg384=) | |
| 3 | g.49130305C>G | CA352743140 | LAMB2 | c.1151G>C (p.Arg384Pro) | |
| 3 | g.49130305C>T | CA2394682 | LAMB2 | c.1151G>A (p.Arg384His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49130306G>A | CA2394683 | LAMB2 | c.1150C>T (p.Arg384Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49130306G>C | CA352743148 | LAMB2 | c.1150C>G (p.Arg384Gly) | |
| 3 | g.49130306G= | CA1363342477 | LAMB2 | c.1150C= (p.Arg384=) | |
| 3 | g.49130306G>T | CA352743146 | LAMB2 | c.1150C>A (p.Arg384Ser) | |
| 3 | g.49130307C>A | CA2394684 | LAMB2 | c.1149G>T (p.Gly383=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49130307C= | CA1363342478 | LAMB2 | c.1149G= (p.Gly383=) | |
| 3 | g.49130307C>G | CA433835298 | LAMB2 | c.1149G>C (p.Gly383=) | |
| 3 | g.49130307C>T | CA2394685 | LAMB2 | c.1149G>A (p.Gly383=) | dbSNP ExAC gnomAD v2 |
| 3 | g.49130308C>A | CA352743158 | LAMB2 | c.1148G>T (p.Gly383Val) | |
| 3 | g.49130308C>G | CA352743160 | LAMB2 | c.1148G>C (p.Gly383Ala) | |
| 3 | g.49130308C>T | CA352743163 | LAMB2 | c.1148G>A (p.Gly383Glu) | |
| 3 | g.49130309C>A | CA352743165 | LAMB2 | c.1147G>T (p.Gly383Trp) | |
| 3 | g.49130309C>G | CA352743168 | LAMB2 | c.1147G>C (p.Gly383Arg) | |
| 3 | g.49130309C>T | CA352743170 | LAMB2 | c.1147G>A (p.Gly383Arg) | |
| 3 | g.49130310A>C | CA433835306 | LAMB2 | c.1146T>G (p.Ala382=) | |
| 3 | g.49130310A>G | CA433835311 | LAMB2 | c.1146T>C (p.Ala382=) | |
| 3 | g.49130310A>T | CA433835309 | LAMB2 | c.1146T>A (p.Ala382=) | |
| 3 | g.49130311G>A | CA352743174 | LAMB2 | c.1145C>T (p.Ala382Val) | dbSNP |
| 3 | g.49130311G>C | CA352743176 | LAMB2 | c.1145C>G (p.Ala382Gly) | |
| 3 | g.49130311G= | CA1363342479 | LAMB2 | c.1145C= (p.Ala382=) | |
| 3 | g.49130311G>T | CA352743179 | LAMB2 | c.1145C>A (p.Ala382Asp) | |
| 3 | g.49130312C>A | CA352743185 | LAMB2 | c.1144G>T (p.Ala382Ser) | |
| 3 | g.49130312C>G | CA352743188 | LAMB2 | c.1144G>C (p.Ala382Pro) | |
| 3 | g.49130312C>T | CA352743183 | LAMB2 | c.1144G>A (p.Ala382Thr) | |
| 3 | g.49130313T>A | CA433835320 | LAMB2 | c.1143A>T (p.Thr381=) | |
| 3 | g.49130313T>C | CA2394686 | LAMB2 | c.1143A>G (p.Thr381=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49130313T>G | CA433835326 | LAMB2 | c.1143A>C (p.Thr381=) | |
| 3 | g.49130313T= | CA1363342480 | LAMB2 | c.1143A= (p.Thr381=) | |
| 3 | g.49130314G>A | CA352743196 | LAMB2 | c.1142C>T (p.Thr381Ile) | COSMIC |
| 3 | g.49130314G>C | CA352743201 | LAMB2 | c.1142C>G (p.Thr381Arg) | |
| 3 | g.49130314G>T | CA352743197 | LAMB2 | c.1142C>A (p.Thr381Lys) | |
| 3 | g.49130315T>A | CA352743205 | LAMB2 | c.1141A>T (p.Thr381Ser) | |
| 3 | g.49130315T>C | CA352743209 | LAMB2 | c.1141A>G (p.Thr381Ala) | |
| 3 | g.49130315T>G | CA352743206 | LAMB2 | c.1141A>C (p.Thr381Pro) | |
| 3 | g.49130316G>A | CA433835335 | LAMB2 | c.1140C>T (p.Asn380=) | gnomAD v4 |
| 3 | g.49130316G>C | CA352743212 | LAMB2 | c.1140C>G (p.Asn380Lys) | |
| 3 | g.49130316G>T | CA352743214 | LAMB2 | c.1140C>A (p.Asn380Lys) | |
| 3 | g.49130317T>A | CA352743217 | LAMB2 | c.1139A>T (p.Asn380Ile) | gnomAD v4 |
| 3 | g.49130317T>C | CA352743222 | LAMB2 | c.1139A>G (p.Asn380Ser) | |
| 3 | g.49130317T>G | CA352743220 | LAMB2 | c.1139A>C (p.Asn380Thr) | |
| 3 | g.49130318T>A | CA352743227 | LAMB2 | c.1138A>T (p.Asn380Tyr) | |
| 3 | g.49130318T>C | CA352743228 | LAMB2 | c.1138A>G (p.Asn380Asp) | |
| 3 | g.49130318T>G | CA352743231 | LAMB2 | c.1138A>C (p.Asn380His) | gnomAD v4 |
| 3 | g.49130319A>C | CA352743236 | LAMB2 | c.1137T>G (p.His379Gln) | |
| 3 | g.49130319A>G | CA433835361 | LAMB2 | c.1137T>C (p.His379=) | gnomAD v4 |
| 3 | g.49130319A>T | CA352743238 | LAMB2 | c.1137T>A (p.His379Gln) | |
| 3 | g.49130320T>A | CA352743243 | LAMB2 | c.1136A>T (p.His379Leu) | |
| 3 | g.49130320T>C | CA352743245 | LAMB2 | c.1136A>G (p.His379Arg) | |
| 3 | g.49130320T>G | CA352743247 | LAMB2 | c.1136A>C (p.His379Pro) | |
| 3 | g.49130321G>A | CA352743252 | LAMB2 | c.1135C>T (p.His379Tyr) | COSMIC |
| 3 | g.49130321G>C | CA352743254 | LAMB2 | c.1135C>G (p.His379Asp) | |
| 3 | g.49130321G>T | CA352743258 | LAMB2 | c.1135C>A (p.His379Asn) | |
| 3 | g.49130322C>A | CA352743261 | LAMB2 | c.1134G>T (p.Gln378His) | |
| 3 | g.49130322C>G | CA352743260 | LAMB2 | c.1134G>C (p.Gln378His) | |
| 3 | g.49130322C>T | CA433835371 | LAMB2 | c.1134G>A (p.Gln378=) | gnomAD v4 |
| 3 | g.49130323T>A | CA352743262 | LAMB2 | c.1133A>T (p.Gln378Leu) | |
| 3 | g.49130323T>C | CA352743263 | LAMB2 | c.1133A>G (p.Gln378Arg) | |
| 3 | g.49130323T>G | CA352743265 | LAMB2 | c.1133A>C (p.Gln378Pro) | |
| 3 | g.49130324G>A | CA352743269 | LAMB2 | c.1132C>T (p.Gln378Ter) | |
| 3 | g.49130324G>C | CA352743270 | LAMB2 | c.1132C>G (p.Gln378Glu) | |
| 3 | g.49130324G>T | CA352743274 | LAMB2 | c.1132C>A (p.Gln378Lys) | |
| 3 | g.49130325A>C | CA352743277 | LAMB2 | c.1131T>G (p.Cys377Trp) | |
| 3 | g.49130325A>G | CA433835390 | LAMB2 | c.1131T>C (p.Cys377=) | |
| 3 | g.49130325A>T | CA352743279 | LAMB2 | c.1131T>A (p.Cys377Ter) | |
| 3 | g.49130326C>A | CA352743284 | LAMB2 | c.1130G>T (p.Cys377Phe) | |
| 3 | g.49130326C= | CA1363342481 | LAMB2 | c.1130G= (p.Cys377=) | |
| 3 | g.49130326C>G | CA352743286 | LAMB2 | c.1130G>C (p.Cys377Ser) | |
| 3 | g.49130326C>T | CA74487468 | LAMB2 | c.1130G>A (p.Cys377Tyr) | dbSNP |
| 3 | g.49130327A>C | CA352743295 | LAMB2 | c.1129T>G (p.Cys377Gly) | gnomAD v4 |
| 3 | g.49130327A>G | CA352743297 | LAMB2 | c.1129T>C (p.Cys377Arg) | |
| 3 | g.49130327A>T | CA352743293 | LAMB2 | c.1129T>A (p.Cys377Ser) | |
| 3 | g.49130328T>A | CA433835403 | LAMB2 | c.1128A>T (p.Gly376=) | |
| 3 | g.49130328T>C | CA433835405 | LAMB2 | c.1128A>G (p.Gly376=) | |
| 3 | g.49130328T>G | CA433835409 | LAMB2 | c.1128A>C (p.Gly376=) | |
| 3 | g.49130329C>A | CA352743299 | LAMB2 | c.1127G>T (p.Gly376Val) | |
| 3 | g.49130329C>G | CA352743301 | LAMB2 | c.1127G>C (p.Gly376Ala) | |
| 3 | g.49130329C>T | CA352743303 | LAMB2 | c.1127G>A (p.Gly376Glu) | |
| 3 | g.49130330C>A | CA352743305 | LAMB2 | c.1126G>T (p.Gly376Ter) | |
| 3 | g.49130330C= | CA1363342482 | LAMB2 | c.1126G= (p.Gly376=) | |
| 3 | g.49130330C>G | CA352743307 | LAMB2 | c.1126G>C (p.Gly376Arg) | |
| 3 | g.49130330C>T | CA74487474 | LAMB2 | c.1126G>A (p.Gly376Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130331A>C | CA352743311 | LAMB2 | c.1125T>G (p.Asp375Glu) | |
| 3 | g.49130331A>G | CA433835418 | LAMB2 | c.1125T>C (p.Asp375=) | gnomAD v4 |
| 3 | g.49130331A>T | CA352743312 | LAMB2 | c.1125T>A (p.Asp375Glu) | |
| 3 | g.49130332T>A | CA352743313 | LAMB2 | c.1124A>T (p.Asp375Val) | |
| 3 | g.49130332T>C | CA352743314 | LAMB2 | c.1124A>G (p.Asp375Gly) | |
| 3 | g.49130332T>G | CA352743316 | LAMB2 | c.1124A>C (p.Asp375Ala) | |
| 3 | g.49130333C>A | CA352743319 | LAMB2 | c.1123G>T (p.Asp375Tyr) | |
| 3 | g.49130333C>G | CA352743320 | LAMB2 | c.1123G>C (p.Asp375His) | |
| 3 | g.49130333C>T | CA352743321 | LAMB2 | c.1123G>A (p.Asp375Asn) | |
| 3 | g.49130334A= | CA1363342483 | LAMB2 | c.1122T= (p.Cys374=) | |
| 3 | g.49130334A>C | CA352743323 | LAMB2 | c.1122T>G (p.Cys374Trp) | |
| 3 | g.49130334A>G | CA433835438 | LAMB2 | c.1122T>C (p.Cys374=) | |
| 3 | g.49130334A>T | CA124110 | LAMB2 | c.1122T>A (p.Cys374Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.49130335C>A | CA352743327 | LAMB2 | c.1121G>T (p.Cys374Phe) | |
| 3 | g.49130335C= | CA1363342484 | LAMB2 | c.1121G= (p.Cys374=) | |
| 3 | g.49130335C>G | CA352743329 | LAMB2 | c.1121G>C (p.Cys374Ser) | |
| 3 | g.49130335C>T | CA352743331 | LAMB2 | c.1121G>A (p.Cys374Tyr) | dbSNP |
| 3 | g.49130336A= | CA1363342485 | LAMB2 | c.1120T= (p.Cys374=) | |
| 3 | g.49130336A>C | CA352743333 | LAMB2 | c.1120T>G (p.Cys374Gly) | |
| 3 | g.49130336A>G | CA2394687 | LAMB2 | c.1120T>C (p.Cys374Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49130336A>T | CA352743336 | LAMB2 | c.1120T>A (p.Cys374Ser) | |
| 3 | g.49130337C>A | CA433835456 | LAMB2 | c.1119G>T (p.Val373=) | |
| 3 | g.49130337C>G | CA433835458 | LAMB2 | c.1119G>C (p.Val373=) | |
| 3 | g.49130337C>T | CA433835460 | LAMB2 | c.1119G>A (p.Val373=) | gnomAD v4 |
| 3 | g.49130338A= | CA1363342486 | LAMB2 | c.1118T= (p.Val373=) | |
| 3 | g.49130338A>C | CA352743341 | LAMB2 | c.1118T>G (p.Val373Gly) | |
| 3 | g.49130338A>G | CA352743343 | LAMB2 | c.1118T>C (p.Val373Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49130338A>T | CA352743346 | LAMB2 | c.1118T>A (p.Val373Glu) | |
| 3 | g.49130339C>A | CA352743349 | LAMB2 | c.1117G>T (p.Val373Leu) | |
| 3 | g.49130339C>G | CA352743350 | LAMB2 | c.1117G>C (p.Val373Leu) | |
| 3 | g.49130339C>T | CA352743353 | LAMB2 | c.1117G>A (p.Val373Met) | ClinVar gnomAD v4 |