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.209634549G>A | CA423032845 | LAMB3 | c.462C>T (p.Thr154=) c.373-1416C>T (n.373-1416C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209634549G>C | CA423032846 | LAMB3 | c.462C>G (p.Thr154=) c.373-1416C>G (n.373-1416C>G) | |
| 1 | g.209634549G= | CA1144085733 | LAMB3 | c.462C= (p.Thr154=) c.373-1416C= (n.373-1416C=) | |
| 1 | g.209634549G>T | CA1375962 | LAMB3 | c.462C>A (p.Thr154=) c.373-1416C>A (n.373-1416C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634550G>A | CA344595978 | LAMB3 | c.461C>T (p.Thr154Ile) c.373-1417C>T (n.373-1417C>T) | gnomAD v4 |
| 1 | g.209634550G>C | CA344595980 | LAMB3 | c.461C>G (p.Thr154Ser) c.373-1417C>G (n.373-1417C>G) | |
| 1 | g.209634550G>T | CA344595982 | LAMB3 | c.461C>A (p.Thr154Asn) c.373-1417C>A (n.373-1417C>A) | |
| 1 | g.209634551_209634552del | CA2650322950 | LAMB3 | c.460_461del (p.Thr154LeufsTer27) c.373-1418_373-1417del (n.373-1418_373-1417del) | gnomAD v4 |
| 1 | g.209634551T>A | CA344595984 | LAMB3 | c.460A>T (p.Thr154Ser) c.373-1418A>T (n.373-1418A>T) | |
| 1 | g.209634551T>C | CA344595985 | LAMB3 | c.460A>G (p.Thr154Ala) c.373-1418A>G (n.373-1418A>G) | |
| 1 | g.209634551T>G | CA344595987 | LAMB3 | c.460A>C (p.Thr154Pro) c.373-1418A>C (n.373-1418A>C) | |
| 1 | g.209634552G>A | CA1375963 | LAMB3 | c.459C>T (p.Cys153=) c.373-1419C>T (n.373-1419C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634552G>C | CA344595990 | LAMB3 | c.459C>G (p.Cys153Trp) c.373-1419C>G (n.373-1419C>G) | |
| 1 | g.209634552G= | CA1147143653 | LAMB3 | c.459C= (p.Cys153=) c.373-1419C= (n.373-1419C=) | |
| 1 | g.209634552G>T | CA344595992 | LAMB3 | c.459C>A (p.Cys153Ter) c.373-1419C>A (n.373-1419C>A) | ClinVar dbSNP |
| 1 | g.209634553C>A | CA344595997 | LAMB3 | c.458G>T (p.Cys153Phe) c.373-1420G>T (n.373-1420G>T) | |
| 1 | g.209634553C>G | CA344595995 | LAMB3 | c.458G>C (p.Cys153Ser) c.373-1420G>C (n.373-1420G>C) | |
| 1 | g.209634553C>T | CA344595994 | LAMB3 | c.458G>A (p.Cys153Tyr) c.373-1420G>A (n.373-1420G>A) | |
| 1 | g.209634554A>C | CA344595999 | LAMB3 | c.457T>G (p.Cys153Gly) c.373-1421T>G (n.373-1421T>G) | |
| 1 | g.209634554A>G | CA344596002 | LAMB3 | c.457T>C (p.Cys153Arg) c.373-1421T>C (n.373-1421T>C) | |
| 1 | g.209634554A>T | CA344596001 | LAMB3 | c.457T>A (p.Cys153Ser) c.373-1421T>A (n.373-1421T>A) | |
| 1 | g.209634555G>A | CA423032847 | LAMB3 | c.456C>T (p.Asp152=) c.373-1422C>T (n.373-1422C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209634555G>C | CA344596004 | LAMB3 | c.456C>G (p.Asp152Glu) c.373-1422C>G (n.373-1422C>G) | |
| 1 | g.209634555G= | CA2484302766 | LAMB3 | c.456C= (p.Asp152=) c.373-1422C= (n.373-1422C=) | |
| 1 | g.209634555G>T | CA344596005 | LAMB3 | c.456C>A (p.Asp152Glu) c.373-1422C>A (n.373-1422C>A) | |
| 1 | g.209634556T>A | CA344596007 | LAMB3 | c.455A>T (p.Asp152Val) c.373-1423A>T (n.373-1423A>T) | |
| 1 | g.209634556T>C | CA344596009 | LAMB3 | c.455A>G (p.Asp152Gly) c.373-1423A>G (n.373-1423A>G) | |
| 1 | g.209634556T>G | CA344596011 | LAMB3 | c.455A>C (p.Asp152Ala) c.373-1423A>C (n.373-1423A>C) | gnomAD v4 |
| 1 | g.209634557C>A | CA344596013 | LAMB3 | c.454G>T (p.Asp152Tyr) c.373-1424G>T (n.373-1424G>T) | |
| 1 | g.209634557C= | CA1148885109 | LAMB3 | c.454G= (p.Asp152=) c.373-1424G= (n.373-1424G=) | |
| 1 | g.209634557C>G | CA344596014 | LAMB3 | c.454G>C (p.Asp152His) c.373-1424G>C (n.373-1424G>C) | |
| 1 | g.209634557C>T | CA1375964 | LAMB3 | c.454G>A (p.Asp152Asn) c.373-1424G>A (n.373-1424G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209634558G>A | CA1375965 | LAMB3 | c.453C>T (p.Ala151=) c.373-1425C>T (n.373-1425C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634558G>C | CA423032848 | LAMB3 | c.453C>G (p.Ala151=) c.373-1425C>G (n.373-1425C>G) | |
| 1 | g.209634558G= | CA1143700450 | LAMB3 | c.453C= (p.Ala151=) c.373-1425C= (n.373-1425C=) | |
| 1 | g.209634558G>T | CA423032849 | LAMB3 | c.453C>A (p.Ala151=) c.373-1425C>A (n.373-1425C>A) | |
| 1 | g.209634559G>A | CA344596018 | LAMB3 | c.452C>T (p.Ala151Val) c.373-1426C>T (n.373-1426C>T) | dbSNP |
| 1 | g.209634559G>C | CA344596020 | LAMB3 | c.452C>G (p.Ala151Gly) c.373-1426C>G (n.373-1426C>G) | |
| 1 | g.209634559G= | CA2484302767 | LAMB3 | c.452C= (p.Ala151=) c.373-1426C= (n.373-1426C=) | |
| 1 | g.209634559G>T | CA344596022 | LAMB3 | c.452C>A (p.Ala151Asp) c.373-1426C>A (n.373-1426C>A) | |
| 1 | g.209634560C>A | CA344596024 | LAMB3 | c.451G>T (p.Ala151Ser) c.373-1427G>T (n.373-1427G>T) | |
| 1 | g.209634560C>G | CA344596025 | LAMB3 | c.451G>C (p.Ala151Pro) c.373-1427G>C (n.373-1427G>C) | |
| 1 | g.209634560C>T | CA344596027 | LAMB3 | c.451G>A (p.Ala151Thr) c.373-1427G>A (n.373-1427G>A) | |
| 1 | g.209634561A= | CA2484302768 | LAMB3 | c.450T= (p.Ala150=) c.373-1428T= (n.373-1428T=) | |
| 1 | g.209634561A>C | CA423032851 | LAMB3 | c.450T>G (p.Ala150=) c.373-1428T>G (n.373-1428T>G) | |
| 1 | g.209634561A>G | CA423032850 | LAMB3 | c.450T>C (p.Ala150=) c.373-1428T>C (n.373-1428T>C) | ClinVar dbSNP |
| 1 | g.209634561A>T | CA36761123 | LAMB3 | c.450T>A (p.Ala150=) c.373-1428T>A (n.373-1428T>A) | dbSNP |
| 1 | g.209634562G>A | CA344596029 | LAMB3 | c.449C>T (p.Ala150Val) c.373-1429C>T (n.373-1429C>T) | |
| 1 | g.209634562G>C | CA344596033 | LAMB3 | c.449C>G (p.Ala150Gly) c.373-1429C>G (n.373-1429C>G) | |
| 1 | g.209634562G>T | CA344596031 | LAMB3 | c.449C>A (p.Ala150Asp) c.373-1429C>A (n.373-1429C>A) | |
| 1 | g.209634563C>A | CA344596035 | LAMB3 | c.448G>T (p.Ala150Ser) c.373-1430G>T (n.373-1430G>T) | dbSNP |
| 1 | g.209634563C>G | CA344596037 | LAMB3 | c.448G>C (p.Ala150Pro) c.373-1430G>C (n.373-1430G>C) | |
| 1 | g.209634563C>T | CA344596039 | LAMB3 | c.448G>A (p.Ala150Thr) c.373-1430G>A (n.373-1430G>A) | |
| 1 | g.209634564C>A | CA423032852 | LAMB3 | c.447G>T (p.Leu149=) c.373-1431G>T (n.373-1431G>T) | |
| 1 | g.209634564C= | CA2484302769 | LAMB3 | c.447G= (p.Leu149=) c.373-1431G= (n.373-1431G=) | |
| 1 | g.209634564C>G | CA423032854 | LAMB3 | c.447G>C (p.Leu149=) c.373-1431G>C (n.373-1431G>C) | |
| 1 | g.209634564C>T | CA423032853 | LAMB3 | c.447G>A (p.Leu149=) c.373-1431G>A (n.373-1431G>A) | gnomAD v4 |
| 1 | g.209634564_209634565delinsTCTTCCTTTG | CA2580061976 | LAMB3 | c.446_447delinsCAAAGGAAGA (p.Leu149ProfsTer?) c.373-1432_373-1431delinsCAAAGGAAGA (n.373-1432_373-1431delinsCAAAGGAAGA) | ClinVar |
| 1 | g.209634565A>C | CA344596042 | LAMB3 | c.446T>G (p.Leu149Arg) c.373-1432T>G (n.373-1432T>G) | |
| 1 | g.209634565A>G | CA344596044 | LAMB3 | c.446T>C (p.Leu149Pro) c.373-1432T>C (n.373-1432T>C) | |
| 1 | g.209634565A>T | CA344596046 | LAMB3 | c.446T>A (p.Leu149Gln) c.373-1432T>A (n.373-1432T>A) | |
| 1 | g.209634565_209634569delinsAGGTA | CA1148406631 | LAMB3 | c.442_446delinsTACCT (p.Tyr148=) c.373-1436_373-1432delinsTACCT (n.373-1436_373-1432delinsTACCT) | |
| 1 | g.209634566_209634569dup | CA36761125 | LAMB3 | c.443_446dup (p.Ala150ProfsTer?) c.373-1435_373-1432dup (n.373-1435_373-1432dup) | dbSNP |
| 1 | g.209634566G>A | CA36761126 | LAMB3 | c.445C>T (p.Leu149=) c.373-1433C>T (n.373-1433C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634566G>C | CA344596048 | LAMB3 | c.445C>G (p.Leu149Val) c.373-1433C>G (n.373-1433C>G) | gnomAD v4 |
| 1 | g.209634566G= | CA1143885435 | LAMB3 | c.445C= (p.Leu149=) c.373-1433C= (n.373-1433C=) | |
| 1 | g.209634566G>T | CA344596050 | LAMB3 | c.445C>A (p.Leu149Met) c.373-1433C>A (n.373-1433C>A) | |
| 1 | g.209634567G>A | CA1375966 | LAMB3 | c.444C>T (p.Tyr148=) c.373-1434C>T (n.373-1434C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634567G>C | CA344596054 | LAMB3 | c.444C>G (p.Tyr148Ter) c.373-1434C>G (n.373-1434C>G) | ClinVar |
| 1 | g.209634567G= | CA1143428696 | LAMB3 | c.444C= (p.Tyr148=) c.373-1434C= (n.373-1434C=) | |
| 1 | g.209634567G>T | CA344596052 | LAMB3 | c.444C>A (p.Tyr148Ter) c.373-1434C>A (n.373-1434C>A) | gnomAD v4 |
| 1 | g.209634568T>A | CA344596057 | LAMB3 | c.443A>T (p.Tyr148Phe) c.373-1435A>T (n.373-1435A>T) | gnomAD v4 |
| 1 | g.209634568T>C | CA344596058 | LAMB3 | c.443A>G (p.Tyr148Cys) c.373-1435A>G (n.373-1435A>G) | |
| 1 | g.209634568T>G | CA344596060 | LAMB3 | c.443A>C (p.Tyr148Ser) c.373-1435A>C (n.373-1435A>C) | |
| 1 | g.209634569A>C | CA344596061 | LAMB3 | c.442T>G (p.Tyr148Asp) c.373-1436T>G (n.373-1436T>G) | |
| 1 | g.209634569A>G | CA344596062 | LAMB3 | c.442T>C (p.Tyr148His) c.373-1436T>C (n.373-1436T>C) | |
| 1 | g.209634569A>T | CA344596064 | LAMB3 | c.442T>A (p.Tyr148Asn) c.373-1436T>A (n.373-1436T>A) | |
| 1 | g.209634570C>A | CA344596067 | LAMB3 | c.441G>T (p.Gln147His) c.373-1437G>T (n.373-1437G>T) | COSMIC |
| 1 | g.209634570C= | CA2484302770 | LAMB3 | c.441G= (p.Gln147=) c.373-1437G= (n.373-1437G=) | |
| 1 | g.209634570C>G | CA344596068 | LAMB3 | c.441G>C (p.Gln147His) c.373-1437G>C (n.373-1437G>C) | dbSNP gnomAD v4 |
| 1 | g.209634570C>T | CA423032855 | LAMB3 | c.441G>A (p.Gln147=) c.373-1437G>A (n.373-1437G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209634571T>A | CA344596070 | LAMB3 | c.440A>T (p.Gln147Leu) c.373-1438A>T (n.373-1438A>T) | |
| 1 | g.209634571T>C | CA344596072 | LAMB3 | c.440A>G (p.Gln147Arg) c.373-1438A>G (n.373-1438A>G) | |
| 1 | g.209634571T>G | CA344596074 | LAMB3 | c.440A>C (p.Gln147Pro) c.373-1438A>C (n.373-1438A>C) | |
| 1 | g.209634572G>A | CA344596075 | LAMB3 | c.439C>T (p.Gln147Ter) c.373-1439C>T (n.373-1439C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634572G>C | CA344596077 | LAMB3 | c.439C>G (p.Gln147Glu) c.373-1439C>G (n.373-1439C>G) | |
| 1 | g.209634572G= | CA2484302771 | LAMB3 | c.439C= (p.Gln147=) c.373-1439C= (n.373-1439C=) | |
| 1 | g.209634572G>T | CA344596079 | LAMB3 | c.439C>A (p.Gln147Lys) c.373-1439C>A (n.373-1439C>A) | |
| 1 | g.209634573G>A | CA423032856 | LAMB3 | c.438C>T (p.Tyr146=) c.373-1440C>T (n.373-1440C>T) | ClinVar gnomAD v4 |
| 1 | g.209634573G>C | CA344596081 | LAMB3 | c.438C>G (p.Tyr146Ter) c.373-1440C>G (n.373-1440C>G) | |
| 1 | g.209634573G>T | CA344596082 | LAMB3 | c.438C>A (p.Tyr146Ter) c.373-1440C>A (n.373-1440C>A) | |
| 1 | g.209634574T>A | CA344596084 | LAMB3 | c.437A>T (p.Tyr146Phe) c.373-1441A>T (n.373-1441A>T) | |
| 1 | g.209634574T>C | CA344596086 | LAMB3 | c.437A>G (p.Tyr146Cys) c.373-1441A>G (n.373-1441A>G) | gnomAD v4 |
| 1 | g.209634574T>G | CA344596088 | LAMB3 | c.437A>C (p.Tyr146Ser) c.373-1441A>C (n.373-1441A>C) | |
| 1 | g.209634574T= | CA2484302772 | LAMB3 | c.437A= (p.Tyr146=) c.373-1441A= (n.373-1441A=) | |
| 1 | g.209634574_209634576delinsTAC | CA2484302773 | LAMB3 | c.435_437delinsGTA (p.Val145=) c.373-1443_373-1441delinsGTA (n.373-1443_373-1441delinsGTA) | |
| 1 | g.209634575A>C | CA344596091 | LAMB3 | c.436T>G (p.Tyr146Asp) c.373-1442T>G (n.373-1442T>G) | |
| 1 | g.209634575A>G | CA344596092 | LAMB3 | c.436T>C (p.Tyr146His) c.373-1442T>C (n.373-1442T>C) | |
| 1 | g.209634575A>T | CA344596094 | LAMB3 | c.436T>A (p.Tyr146Asn) c.373-1442T>A (n.373-1442T>A) | |
| 1 | g.209634575dup | CA916082106 | LAMB3 | c.436dup (p.Tyr146LeufsTer?) c.373-1442dup (n.373-1442dup) | ClinVar dbSNP |
| 1 | g.209634577_209634578del | CA2484302774 | LAMB3 | c.435_436del (p.Tyr146ProfsTer?) c.373-1443_373-1442del (n.373-1443_373-1442del) | ClinVar dbSNP |
| 1 | g.209634576C>A | CA423032859 | LAMB3 | c.435G>T (p.Val145=) c.373-1443G>T (n.373-1443G>T) | |
| 1 | g.209634576C>G | CA423032857 | LAMB3 | c.435G>C (p.Val145=) c.373-1443G>C (n.373-1443G>C) | |
| 1 | g.209634576C>T | CA423032858 | LAMB3 | c.435G>A (p.Val145=) c.373-1443G>A (n.373-1443G>A) | |
| 1 | g.209634577A>C | CA344596096 | LAMB3 | c.434T>G (p.Val145Gly) c.373-1444T>G (n.373-1444T>G) | |
| 1 | g.209634577A>G | CA344596098 | LAMB3 | c.434T>C (p.Val145Ala) c.373-1444T>C (n.373-1444T>C) | gnomAD v4 |
| 1 | g.209634577A>T | CA344596099 | LAMB3 | c.434T>A (p.Val145Glu) c.373-1444T>A (n.373-1444T>A) | |
| 1 | g.209634578C>A | CA344596101 | LAMB3 | c.433G>T (p.Val145Leu) c.373-1445G>T (n.373-1445G>T) | |
| 1 | g.209634578C>G | CA344596103 | LAMB3 | c.433G>C (p.Val145Leu) c.373-1445G>C (n.373-1445G>C) | |
| 1 | g.209634578C>T | CA344596105 | LAMB3 | c.433G>A (p.Val145Met) c.373-1445G>A (n.373-1445G>A) | |
| 1 | g.209634579T>A | CA423032860 | LAMB3 | c.432A>T (p.Arg144=) c.373-1446A>T (n.373-1446A>T) | |
| 1 | g.209634579T>C | CA1375967 | LAMB3 | c.432A>G (p.Arg144=) c.373-1446A>G (n.373-1446A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209634579T>G | CA423032861 | LAMB3 | c.432A>C (p.Arg144=) c.373-1446A>C (n.373-1446A>C) | |
| 1 | g.209634579T= | CA2484302775 | LAMB3 | c.432A= (p.Arg144=) c.373-1446A= (n.373-1446A=) | |
| 1 | g.209634580C>A | CA344596110 | LAMB3 | c.431G>T (p.Arg144Leu) c.373-1447G>T (n.373-1447G>T) | |
| 1 | g.209634580C= | CA1144075952 | LAMB3 | c.431G= (p.Arg144=) c.373-1447G= (n.373-1447G=) | |
| 1 | g.209634580C>G | CA1375969 | LAMB3 | c.431G>C (p.Arg144Pro) c.373-1447G>C (n.373-1447G>C) | dbSNP ExAC gnomAD v4 |
| 1 | g.209634580C>T | CA1375968 | LAMB3 | c.431G>A (p.Arg144Gln) c.373-1447G>A (n.373-1447G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634581G>A | CA1375970 | LAMB3 | c.430C>T (p.Arg144Ter) c.373-1448C>T (n.373-1448C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209634581G>C | CA344596112 | LAMB3 | c.430C>G (p.Arg144Gly) c.373-1448C>G (n.373-1448C>G) | gnomAD v4 |
| 1 | g.209634581G= | CA2484302776 | LAMB3 | c.430C= (p.Arg144=) c.373-1448C= (n.373-1448C=) | |
| 1 | g.209634581G>T | CA423032862 | LAMB3 | c.430C>A (p.Arg144=) c.373-1448C>A (n.373-1448C>A) | ClinVar |
| 1 | g.209634582C>A | CA344596114 | LAMB3 | c.429G>T (p.Trp143Cys) c.373-1449G>T (n.373-1449G>T) | |
| 1 | g.209634582C= | CA1143672002 | LAMB3 | c.429G= (p.Trp143=) c.373-1449G= (n.373-1449G=) | |
| 1 | g.209634582C>G | CA1375972 | LAMB3 | c.429G>C (p.Trp143Cys) c.373-1449G>C (n.373-1449G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209634582C>T | CA1375971 | LAMB3 | c.429G>A (p.Trp143Ter) c.373-1449G>A (n.373-1449G>A) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.209634583C>A | CA344596118 | LAMB3 | c.428G>T (p.Trp143Leu) c.373-1450G>T (n.373-1450G>T) | |
| 1 | g.209634583C>G | CA344596119 | LAMB3 | c.428G>C (p.Trp143Ser) c.373-1450G>C (n.373-1450G>C) | |
| 1 | g.209634583C>T | CA344596121 | LAMB3 | c.428G>A (p.Trp143Ter) c.373-1450G>A (n.373-1450G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209634584A>C | CA344596123 | LAMB3 | c.427T>G (p.Trp143Gly) c.373-1451T>G (n.373-1451T>G) | |
| 1 | g.209634584A>G | CA344596124 | LAMB3 | c.427T>C (p.Trp143Arg) c.373-1451T>C (n.373-1451T>C) | |
| 1 | g.209634584A>T | CA344596126 | LAMB3 | c.427T>A (p.Trp143Arg) c.373-1451T>A (n.373-1451T>A) | |
| 1 | g.209634585G>A | CA423032864 | LAMB3 | c.426C>T (p.Thr142=) c.373-1452C>T (n.373-1452C>T) | |
| 1 | g.209634585G>C | CA423032865 | LAMB3 | c.426C>G (p.Thr142=) c.373-1452C>G (n.373-1452C>G) | |
| 1 | g.209634585G= | CA2484302777 | LAMB3 | c.426C= (p.Thr142=) c.373-1452C= (n.373-1452C=) | |
| 1 | g.209634585G>T | CA423032866 | LAMB3 | c.426C>A (p.Thr142=) c.373-1452C>A (n.373-1452C>A) | dbSNP |
| 1 | g.209634586G>A | CA1375973 | LAMB3 | c.425C>T (p.Thr142Ile) c.373-1453C>T (n.373-1453C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209634586G>C | CA344596130 | LAMB3 | c.425C>G (p.Thr142Ser) c.373-1453C>G (n.373-1453C>G) | |
| 1 | g.209634586G= | CA2484302778 | LAMB3 | c.425C= (p.Thr142=) c.373-1453C= (n.373-1453C=) | |
| 1 | g.209634586G>T | CA344596129 | LAMB3 | c.425C>A (p.Thr142Asn) c.373-1453C>A (n.373-1453C>A) | |
| 1 | g.209634587T>A | CA344596134 | LAMB3 | c.424A>T (p.Thr142Ser) c.373-1454A>T (n.373-1454A>T) | |
| 1 | g.209634587T>C | CA344596135 | LAMB3 | c.424A>G (p.Thr142Ala) c.373-1454A>G (n.373-1454A>G) | gnomAD v4 |
| 1 | g.209634587T>G | CA344596137 | LAMB3 | c.424A>C (p.Thr142Pro) c.373-1454A>C (n.373-1454A>C) | |
| 1 | g.209634588C>A | CA344596139 | LAMB3 | c.423G>T (p.Lys141Asn) c.373-1455G>T (n.373-1455G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634588C= | CA2484302779 | LAMB3 | c.423G= (p.Lys141=) c.373-1455G= (n.373-1455G=) | |
| 1 | g.209634588C>G | CA344596141 | LAMB3 | c.423G>C (p.Lys141Asn) c.373-1455G>C (n.373-1455G>C) | |
| 1 | g.209634588C>T | CA423032867 | LAMB3 | c.423G>A (p.Lys141=) c.373-1455G>A (n.373-1455G>A) | |
| 1 | g.209634589T>A | CA344596143 | LAMB3 | c.422A>T (p.Lys141Met) c.373-1456A>T (n.373-1456A>T) | |
| 1 | g.209634589T>C | CA344596145 | LAMB3 | c.422A>G (p.Lys141Arg) c.373-1456A>G (n.373-1456A>G) | |
| 1 | g.209634589T>G | CA344596146 | LAMB3 | c.422A>C (p.Lys141Thr) c.373-1456A>C (n.373-1456A>C) | |
| 1 | g.209634590dup | CA529000305 | LAMB3 | c.422dup (p.Thr142AspfsTer?) c.373-1456dup (n.373-1456dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634590T>A | CA344596149 | LAMB3 | c.421A>T (p.Lys141Ter) c.373-1457A>T (n.373-1457A>T) | ClinVar |
| 1 | g.209634590T>C | CA344596151 | LAMB3 | c.421A>G (p.Lys141Glu) c.373-1457A>G (n.373-1457A>G) | gnomAD v4 |
| 1 | g.209634590T>G | CA344596152 | LAMB3 | c.421A>C (p.Lys141Gln) c.373-1457A>C (n.373-1457A>C) | |
| 1 | g.209634591A>C | CA423032868 | LAMB3 | c.420T>G (p.Gly140=) c.373-1458T>G (n.373-1458T>G) | ClinVar dbSNP |
| 1 | g.209634591A>G | CA423032869 | LAMB3 | c.420T>C (p.Gly140=) c.373-1458T>C (n.373-1458T>C) | |
| 1 | g.209634591A>T | CA423032870 | LAMB3 | c.420T>A (p.Gly140=) c.373-1458T>A (n.373-1458T>A) | |
| 1 | g.209634592C>A | CA344596153 | LAMB3 | c.419G>T (p.Gly140Val) c.373-1459G>T (n.373-1459G>T) | |
| 1 | g.209634592C= | CA2484302780 | LAMB3 | c.419G= (p.Gly140=) c.373-1459G= (n.373-1459G=) | |
| 1 | g.209634592C>G | CA344596154 | LAMB3 | c.419G>C (p.Gly140Ala) c.373-1459G>C (n.373-1459G>C) | gnomAD v4 |
| 1 | g.209634592C>T | CA344596156 | LAMB3 | c.419G>A (p.Gly140Asp) c.373-1459G>A (n.373-1459G>A) | dbSNP gnomAD v4 |
| 1 | g.209634593C>A | CA1375974 | LAMB3 | c.418G>T (p.Gly140Cys) c.373-1460G>T (n.373-1460G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209634593C= | CA1149131180 | LAMB3 | c.418G= (p.Gly140=) c.373-1460G= (n.373-1460G=) | |
| 1 | g.209634593C>G | CA344596159 | LAMB3 | c.418G>C (p.Gly140Arg) c.373-1460G>C (n.373-1460G>C) | gnomAD v4 |
| 1 | g.209634593C>T | CA1375975 | LAMB3 | c.418G>A (p.Gly140Ser) c.373-1460G>A (n.373-1460G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634594G>A | CA1375976 | LAMB3 | c.417C>T (p.Phe139=) c.373-1461C>T (n.373-1461C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209634594G>C | CA344596161 | LAMB3 | c.417C>G (p.Phe139Leu) c.373-1461C>G (n.373-1461C>G) | |
| 1 | g.209634594G= | CA1143490996 | LAMB3 | c.417C= (p.Phe139=) c.373-1461C= (n.373-1461C=) | |
| 1 | g.209634594G>T | CA344596162 | LAMB3 | c.417C>A (p.Phe139Leu) c.373-1461C>A (n.373-1461C>A) | |
| 1 | g.209634595A= | CA2484302781 | LAMB3 | c.416T= (p.Phe139=) c.373-1462T= (n.373-1462T=) | |
| 1 | g.209634595A>C | CA344596163 | LAMB3 | c.416T>G (p.Phe139Cys) c.373-1462T>G (n.373-1462T>G) | dbSNP |
| 1 | g.209634595A>G | CA344596164 | LAMB3 | c.416T>C (p.Phe139Ser) c.373-1462T>C (n.373-1462T>C) | dbSNP |
| 1 | g.209634595A>T | CA344596165 | LAMB3 | c.416T>A (p.Phe139Tyr) c.373-1462T>A (n.373-1462T>A) | |
| 1 | g.209634596A>C | CA344596166 | LAMB3 | c.415T>G (p.Phe139Val) c.373-1463T>G (n.373-1463T>G) | |
| 1 | g.209634596A>G | CA344596167 | LAMB3 | c.415T>C (p.Phe139Leu) c.373-1463T>C (n.373-1463T>C) | |
| 1 | g.209634596A>T | CA344596168 | LAMB3 | c.415T>A (p.Phe139Ile) c.373-1463T>A (n.373-1463T>A) | |
| 1 | g.209634597G>A | CA423032872 | LAMB3 | c.414C>T (p.Asp138=) c.373-1464C>T (n.373-1464C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209634597G>C | CA344596169 | LAMB3 | c.414C>G (p.Asp138Glu) c.373-1464C>G (n.373-1464C>G) | |
| 1 | g.209634597G= | CA2484302782 | LAMB3 | c.414C= (p.Asp138=) c.373-1464C= (n.373-1464C=) | |
| 1 | g.209634597G>T | CA344596170 | LAMB3 | c.414C>A (p.Asp138Glu) c.373-1464C>A (n.373-1464C>A) | |
| 1 | g.209634598T>A | CA344596173 | LAMB3 | c.413A>T (p.Asp138Val) c.373-1465A>T (n.373-1465A>T) | |
| 1 | g.209634598T>C | CA344596172 | LAMB3 | c.413A>G (p.Asp138Gly) c.373-1465A>G (n.373-1465A>G) | |
| 1 | g.209634598T>G | CA344596171 | LAMB3 | c.413A>C (p.Asp138Ala) c.373-1465A>C (n.373-1465A>C) | |
| 1 | g.209634599C>A | CA344596174 | LAMB3 | c.412G>T (p.Asp138Tyr) c.373-1466G>T (n.373-1466G>T) | |
| 1 | g.209634599C>G | CA344596175 | LAMB3 | c.412G>C (p.Asp138His) c.373-1466G>C (n.373-1466G>C) | |
| 1 | g.209634599C>T | CA344596176 | LAMB3 | c.412G>A (p.Asp138Asn) c.373-1466G>A (n.373-1466G>A) | COSMIC |
| 1 | g.209634600T>A | CA423032873 | LAMB3 | c.411A>T (p.Ser137=) c.373-1467A>T (n.373-1467A>T) | COSMIC |
| 1 | g.209634600T>C | CA423032874 | LAMB3 | c.411A>G (p.Ser137=) c.373-1467A>G (n.373-1467A>G) | |
| 1 | g.209634600T>G | CA423032875 | LAMB3 | c.411A>C (p.Ser137=) c.373-1467A>C (n.373-1467A>C) | |
| 1 | g.209634601G>A | CA36761135 | LAMB3 | c.410C>T (p.Ser137Leu) c.373-1468C>T (n.373-1468C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209634601G>C | CA344596177 | LAMB3 | c.410C>G (p.Ser137Ter) c.373-1468C>G (n.373-1468C>G) | |
| 1 | g.209634601G= | CA2484302783 | LAMB3 | c.410C= (p.Ser137=) c.373-1468C= (n.373-1468C=) | |
| 1 | g.209634601G>T | CA344596178 | LAMB3 | c.410C>A (p.Ser137Ter) c.373-1468C>A (n.373-1468C>A) | |
| 1 | g.209634602A= | CA2484302784 | LAMB3 | c.409T= (p.Ser137=) c.373-1469T= (n.373-1469T=) | |
| 1 | g.209634602A>C | CA344596179 | LAMB3 | c.409T>G (p.Ser137Ala) c.373-1469T>G (n.373-1469T>G) | |
| 1 | g.209634602A>G | CA344596180 | LAMB3 | c.409T>C (p.Ser137Pro) c.373-1469T>C (n.373-1469T>C) | |
| 1 | g.209634602A>T | CA1375977 | LAMB3 | c.409T>A (p.Ser137Thr) c.373-1469T>A (n.373-1469T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209634603G>A | CA423032878 | LAMB3 | c.408C>T (p.Ser136=) c.373-1470C>T (n.373-1470C>T) | gnomAD v4 |
| 1 | g.209634603G>C | CA423032876 | LAMB3 | c.408C>G (p.Ser136=) c.373-1470C>G (n.373-1470C>G) | |
| 1 | g.209634603G>T | CA423032877 | LAMB3 | c.408C>A (p.Ser136=) c.373-1470C>A (n.373-1470C>A) | |
| 1 | g.209634604G>A | CA344596181 | LAMB3 | c.407C>T (p.Ser136Phe) c.373-1471C>T (n.373-1471C>T) | gnomAD v4 |
| 1 | g.209634604G>C | CA344596182 | LAMB3 | c.407C>G (p.Ser136Cys) c.373-1471C>G (n.373-1471C>G) | |
| 1 | g.209634604G>T | CA344596183 | LAMB3 | c.407C>A (p.Ser136Tyr) c.373-1471C>A (n.373-1471C>A) | gnomAD v4 |
| 1 | g.209634605A>C | CA344596186 | LAMB3 | c.406T>G (p.Ser136Ala) c.373-1472T>G (n.373-1472T>G) | |
| 1 | g.209634605A>G | CA344596185 | LAMB3 | c.406T>C (p.Ser136Pro) c.373-1472T>C (n.373-1472T>C) | |
| 1 | g.209634605A>T | CA344596184 | LAMB3 | c.406T>A (p.Ser136Thr) c.373-1472T>A (n.373-1472T>A) | |
| 1 | g.209634606G>A | CA36761137 | LAMB3 | c.405C>T (p.Arg135=) c.373-1473C>T (n.373-1473C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634606G>C | CA423032879 | LAMB3 | c.405C>G (p.Arg135=) c.373-1473C>G (n.373-1473C>G) | |
| 1 | g.209634606G= | CA2484302785 | LAMB3 | c.405C= (p.Arg135=) c.373-1473C= (n.373-1473C=) | |
| 1 | g.209634606G>T | CA423032880 | LAMB3 | c.405C>A (p.Arg135=) c.373-1473C>A (n.373-1473C>A) | |
| 1 | g.209634607C>A | CA344596188 | LAMB3 | c.404G>T (p.Arg135Leu) c.373-1474G>T (n.373-1474G>T) | |
| 1 | g.209634607C= | CA1142251370 | LAMB3 | c.404G= (p.Arg135=) c.373-1474G= (n.373-1474G=) | |
| 1 | g.209634607C>G | CA344596191 | LAMB3 | c.404G>C (p.Arg135Pro) c.373-1474G>C (n.373-1474G>C) | |
| 1 | g.209634607C>T | CA1375978 | LAMB3 | c.404G>A (p.Arg135His) c.373-1474G>A (n.373-1474G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209634608G>A | CA1375979 | LAMB3 | c.403C>T (p.Arg135Cys) c.373-1475C>T (n.373-1475C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634608G>C | CA344596195 | LAMB3 | c.403C>G (p.Arg135Gly) c.373-1475C>G (n.373-1475C>G) | |
| 1 | g.209634608G= | CA1143898991 | LAMB3 | c.403C= (p.Arg135=) c.373-1475C= (n.373-1475C=) | |
| 1 | g.209634608G>T | CA344596193 | LAMB3 | c.403C>A (p.Arg135Ser) c.373-1475C>A (n.373-1475C>A) | |
| 1 | g.209634609C>A | CA344596197 | LAMB3 | c.402G>T (p.Glu134Asp) c.373-1476G>T (n.373-1476G>T) | |
| 1 | g.209634609C= | CA1142631224 | LAMB3 | c.402G= (p.Glu134=) c.373-1476G= (n.373-1476G=) | |
| 1 | g.209634609C>G | CA344596199 | LAMB3 | c.402G>C (p.Glu134Asp) c.373-1476G>C (n.373-1476G>C) | |
| 1 | g.209634609C>T | CA1375980 | LAMB3 | c.402G>A (p.Glu134=) c.373-1476G>A (n.373-1476G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634610T>A | CA344596201 | LAMB3 | c.401A>T (p.Glu134Val) c.373-1477A>T (n.373-1477A>T) | |
| 1 | g.209634610T>C | CA344596205 | LAMB3 | c.401A>G (p.Glu134Gly) c.373-1477A>G (n.373-1477A>G) | |
| 1 | g.209634610T>G | CA344596203 | LAMB3 | c.401A>C (p.Glu134Ala) c.373-1477A>C (n.373-1477A>C) | gnomAD v4 |
| 1 | g.209634611C>A | CA344596207 | LAMB3 | c.400G>T (p.Glu134Ter) c.373-1478G>T (n.373-1478G>T) | |
| 1 | g.209634611C>G | CA344596209 | LAMB3 | c.400G>C (p.Glu134Gln) c.373-1478G>C (n.373-1478G>C) | |
| 1 | g.209634611C>T | CA344596211 | LAMB3 | c.400G>A (p.Glu134Lys) c.373-1478G>A (n.373-1478G>A) | |
| 1 | g.209634612A= | CA2484302786 | LAMB3 | c.399T= (p.Ile133=) c.373-1479T= (n.373-1479T=) | |
| 1 | g.209634612A>C | CA344596214 | LAMB3 | c.399T>G (p.Ile133Met) c.373-1479T>G (n.373-1479T>G) | |
| 1 | g.209634612A>G | CA423032881 | LAMB3 | c.399T>C (p.Ile133=) c.373-1479T>C (n.373-1479T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209634612A>T | CA423032882 | LAMB3 | c.399T>A (p.Ile133=) c.373-1479T>A (n.373-1479T>A) | |
| 1 | g.209634613A= | CA2484302787 | LAMB3 | c.398T= (p.Ile133=) c.373-1480T= (n.373-1480T=) | |
| 1 | g.209634613A>C | CA344596216 | LAMB3 | c.398T>G (p.Ile133Ser) c.373-1480T>G (n.373-1480T>G) | gnomAD v4 |
| 1 | g.209634613A>G | CA36761140 | LAMB3 | c.398T>C (p.Ile133Thr) c.373-1480T>C (n.373-1480T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634613A>T | CA344596219 | LAMB3 | c.398T>A (p.Ile133Asn) c.373-1480T>A (n.373-1480T>A) | |
| 1 | g.209634614T>A | CA344596222 | LAMB3 | c.397A>T (p.Ile133Phe) c.373-1481A>T (n.373-1481A>T) | |
| 1 | g.209634614T>C | CA344596223 | LAMB3 | c.397A>G (p.Ile133Val) c.373-1481A>G (n.373-1481A>G) | |
| 1 | g.209634614T>G | CA344596225 | LAMB3 | c.397A>C (p.Ile133Leu) c.373-1481A>C (n.373-1481A>C) | |
| 1 | g.209634615C>A | CA423032883 | LAMB3 | c.396G>T (p.Leu132=) c.373-1482G>T (n.373-1482G>T) | ClinVar |
| 1 | g.209634615C= | CA2484302788 | LAMB3 | c.396G= (p.Leu132=) c.373-1482G= (n.373-1482G=) | |
| 1 | g.209634615C>G | CA423032884 | LAMB3 | c.396G>C (p.Leu132=) c.373-1482G>C (n.373-1482G>C) | |
| 1 | g.209634615C>T | CA423032885 | LAMB3 | c.396G>A (p.Leu132=) c.373-1482G>A (n.373-1482G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209634616A>C | CA344596231 | LAMB3 | c.395T>G (p.Leu132Arg) c.373-1483T>G (n.373-1483T>G) | |
| 1 | g.209634616A>G | CA344596229 | LAMB3 | c.395T>C (p.Leu132Pro) c.373-1483T>C (n.373-1483T>C) | |
| 1 | g.209634616A>T | CA344596227 | LAMB3 | c.395T>A (p.Leu132Gln) c.373-1483T>A (n.373-1483T>A) | |
| 1 | g.209634617G>A | CA423032886 | LAMB3 | c.394C>T (p.Leu132=) c.373-1484C>T (n.373-1484C>T) | |
| 1 | g.209634617G>C | CA344596233 | LAMB3 | c.394C>G (p.Leu132Val) c.373-1484C>G (n.373-1484C>G) | |
| 1 | g.209634617G>T | CA344596235 | LAMB3 | c.394C>A (p.Leu132Met) c.373-1484C>A (n.373-1484C>A) | |
| 1 | g.209634618C>A | CA344596238 | LAMB3 | c.393G>T (p.Met131Ile) c.373-1485G>T (n.373-1485G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209634618C= | CA2484302789 | LAMB3 | c.393G= (p.Met131=) c.373-1485G= (n.373-1485G=) | |
| 1 | g.209634618C>G | CA344596239 | LAMB3 | c.393G>C (p.Met131Ile) c.373-1485G>C (n.373-1485G>C) | |
| 1 | g.209634618C>T | CA344596241 | LAMB3 | c.393G>A (p.Met131Ile) c.373-1485G>A (n.373-1485G>A) | |
| 1 | g.209634619A>C | CA344596244 | LAMB3 | c.392T>G (p.Met131Arg) c.373-1486T>G (n.373-1486T>G) | |
| 1 | g.209634619A>G | CA344596246 | LAMB3 | c.392T>C (p.Met131Thr) c.373-1486T>C (n.373-1486T>C) | |
| 1 | g.209634619A>T | CA344596248 | LAMB3 | c.392T>A (p.Met131Lys) c.373-1486T>A (n.373-1486T>A) | |
| 1 | g.209634620T>A | CA344596250 | LAMB3 | c.391A>T (p.Met131Leu) c.373-1487A>T (n.373-1487A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209634620T>C | CA344596251 | LAMB3 | c.391A>G (p.Met131Val) c.373-1487A>G (n.373-1487A>G) | gnomAD v4 |
| 1 | g.209634620T>G | CA344596253 | LAMB3 | c.391A>C (p.Met131Leu) c.373-1487A>C (n.373-1487A>C) | |
| 1 | g.209634620T= | CA2484302790 | LAMB3 | c.391A= (p.Met131=) c.373-1487A= (n.373-1487A=) | |
| 1 | g.209634621G>A | CA423032888 | LAMB3 | c.390C>T (p.Gly130=) c.373-1488C>T (n.373-1488C>T) | gnomAD v4 |
| 1 | g.209634621G>C | CA423032889 | LAMB3 | c.390C>G (p.Gly130=) c.373-1488C>G (n.373-1488C>G) | |
| 1 | g.209634621G>T | CA423032890 | LAMB3 | c.390C>A (p.Gly130=) c.373-1488C>A (n.373-1488C>A) | gnomAD v4 |
| 1 | g.209634622C>A | CA344596259 | LAMB3 | c.389G>T (p.Gly130Val) c.373-1489G>T (n.373-1489G>T) | |
| 1 | g.209634622C>G | CA344596257 | LAMB3 | c.389G>C (p.Gly130Ala) c.373-1489G>C (n.373-1489G>C) | |
| 1 | g.209634622C>T | CA344596255 | LAMB3 | c.389G>A (p.Gly130Asp) c.373-1489G>A (n.373-1489G>A) | gnomAD v4 |
| 1 | g.209634623C>A | CA1375981 | LAMB3 | c.388G>T (p.Gly130Cys) c.373-1490G>T (n.373-1490G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634623C= | CA2484302791 | LAMB3 | c.388G= (p.Gly130=) c.373-1490G= (n.373-1490G=) | |
| 1 | g.209634623C>G | CA344596262 | LAMB3 | c.388G>C (p.Gly130Arg) c.373-1490G>C (n.373-1490G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209634623C>T | CA1375982 | LAMB3 | c.388G>A (p.Gly130Ser) c.373-1490G>A (n.373-1490G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634624G>A | CA1375983 | LAMB3 | c.387C>T (p.Ala129=) c.373-1491C>T (n.373-1491C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209634624G>C | CA423032892 | LAMB3 | c.387C>G (p.Ala129=) c.373-1491C>G (n.373-1491C>G) | |
| 1 | g.209634624G= | CA1144031379 | LAMB3 | c.387C= (p.Ala129=) c.373-1491C= (n.373-1491C=) | |
| 1 | g.209634624G>T | CA423032891 | LAMB3 | c.387C>A (p.Ala129=) c.373-1491C>A (n.373-1491C>A) | gnomAD v4 |
| 1 | g.209634627_209634636del | CA2697554895 | LAMB3 | c.378_387del (p.Met127AlafsTer3) c.373-1500_373-1491del (n.373-1500_373-1491del) | ClinVar |
| 1 | g.209634625G>A | CA344596265 | LAMB3 | c.386C>T (p.Ala129Val) c.373-1492C>T (n.373-1492C>T) | |
| 1 | g.209634625G>C | CA344596267 | LAMB3 | c.386C>G (p.Ala129Gly) c.373-1492C>G (n.373-1492C>G) | |
| 1 | g.209634625G>T | CA344596269 | LAMB3 | c.386C>A (p.Ala129Asp) c.373-1492C>A (n.373-1492C>A) | |
| 1 | g.209634626del | CA2580061979 | LAMB3 | c.385del (p.Ala129ProfsTer4) c.373-1493del (n.373-1493del) | ClinVar |
| 1 | g.209634626C>A | CA344596271 | LAMB3 | c.385G>T (p.Ala129Ser) c.373-1493G>T (n.373-1493G>T) | gnomAD v4 |
| 1 | g.209634626C= | CA2484302792 | LAMB3 | c.385G= (p.Ala129=) c.373-1493G= (n.373-1493G=) | |
| 1 | g.209634626C>G | CA344596273 | LAMB3 | c.385G>C (p.Ala129Pro) c.373-1493G>C (n.373-1493G>C) | |
| 1 | g.209634626C>T | CA36761144 | LAMB3 | c.385G>A (p.Ala129Thr) c.373-1493G>A (n.373-1493G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634627G>A | CA1375984 | LAMB3 | c.384C>T (p.Pro128=) c.373-1494C>T (n.373-1494C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634627G>C | CA36761145 | LAMB3 | c.384C>G (p.Pro128=) c.373-1494C>G (n.373-1494C>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209634627G= | CA1139853503 | LAMB3 | c.384C= (p.Pro128=) c.373-1494C= (n.373-1494C=) | |
| 1 | g.209634627G>T | CA423032893 | LAMB3 | c.384C>A (p.Pro128=) c.373-1494C>A (n.373-1494C>A) | dbSNP |
| 1 | g.209634628G>A | CA344596282 | LAMB3 | c.383C>T (p.Pro128Leu) c.373-1495C>T (n.373-1495C>T) | gnomAD v4 |
| 1 | g.209634628G>C | CA344596280 | LAMB3 | c.383C>G (p.Pro128Arg) c.373-1495C>G (n.373-1495C>G) | |
| 1 | g.209634628G>T | CA344596278 | LAMB3 | c.383C>A (p.Pro128His) c.373-1495C>A (n.373-1495C>A) | |
| 1 | g.209634629G>A | CA344596283 | LAMB3 | c.382C>T (p.Pro128Ser) c.373-1496C>T (n.373-1496C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209634629G>C | CA344596285 | LAMB3 | c.382C>G (p.Pro128Ala) c.373-1496C>G (n.373-1496C>G) | |
| 1 | g.209634629G= | CA2484302793 | LAMB3 | c.382C= (p.Pro128=) c.373-1496C= (n.373-1496C=) | |
| 1 | g.209634629G>T | CA344596287 | LAMB3 | c.382C>A (p.Pro128Thr) c.373-1496C>A (n.373-1496C>A) | dbSNP gnomAD v4 |
| 1 | g.209634630C>A | CA344596288 | LAMB3 | c.381G>T (p.Met127Ile) c.373-1497G>T (n.373-1497G>T) | COSMIC |
| 1 | g.209634630C>G | CA344596291 | LAMB3 | c.381G>C (p.Met127Ile) c.373-1497G>C (n.373-1497G>C) | |
| 1 | g.209634630C>T | CA344596293 | LAMB3 | c.381G>A (p.Met127Ile) c.373-1497G>A (n.373-1497G>A) | |
| 1 | g.209634631A>C | CA344596296 | LAMB3 | c.380T>G (p.Met127Arg) c.373-1498T>G (n.373-1498T>G) | |
| 1 | g.209634631A>G | CA344596298 | LAMB3 | c.380T>C (p.Met127Thr) c.373-1498T>C (n.373-1498T>C) | gnomAD v4 |
| 1 | g.209634631A>T | CA344596300 | LAMB3 | c.380T>A (p.Met127Lys) c.373-1498T>A (n.373-1498T>A) | |
| 1 | g.209634632T>A | CA344596301 | LAMB3 | c.379A>T (p.Met127Leu) c.373-1499A>T (n.373-1499A>T) | dbSNP |
| 1 | g.209634632T>C | CA344596302 | LAMB3 | c.379A>G (p.Met127Val) c.373-1499A>G (n.373-1499A>G) | |
| 1 | g.209634632T>G | CA1375985 | LAMB3 | c.379A>C (p.Met127Leu) c.373-1499A>C (n.373-1499A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634632T= | CA1143521440 | LAMB3 | c.379A= (p.Met127=) c.373-1499A= (n.373-1499A=) | |
| 1 | g.209634633G>A | CA423032894 | LAMB3 | c.378C>T (p.Pro126=) c.373-1500C>T (n.373-1500C>T) | ClinVar gnomAD v4 |
| 1 | g.209634633G>C | CA423032895 | LAMB3 | c.378C>G (p.Pro126=) c.373-1500C>G (n.373-1500C>G) | |
| 1 | g.209634633G>T | CA423032896 | LAMB3 | c.378C>A (p.Pro126=) c.373-1500C>A (n.373-1500C>A) | |
| 1 | g.209634635dup | CA2650322954 | LAMB3 | c.378dup (p.Met127HisfsTer8) c.373-1500dup (n.373-1500dup) | gnomAD v4 |
| 1 | g.209634635del | CA2580061980 | LAMB3 | c.378del (p.Met127CysfsTer6) c.373-1500del (n.373-1500del) | ClinVar gnomAD v4 |
| 1 | g.209634634G>A | CA344596307 | LAMB3 | c.377C>T (p.Pro126Leu) c.373-1501C>T (n.373-1501C>T) | gnomAD v4 |
| 1 | g.209634634G>C | CA344596309 | LAMB3 | c.377C>G (p.Pro126Arg) c.373-1501C>G (n.373-1501C>G) | |
| 1 | g.209634634G>T | CA344596306 | LAMB3 | c.377C>A (p.Pro126His) c.373-1501C>A (n.373-1501C>A) | |
| 1 | g.209634634_209634638del | CA2650322955 | LAMB3 | c.373_377del (p.Gly125HisfsTer8) c.373-1505_373-1501del (n.373-1505_373-1501del) | gnomAD v4 |
| 1 | g.209634635G>A | CA344596315 | LAMB3 | c.376C>T (p.Pro126Ser) c.373-1502C>T (n.373-1502C>T) | |
| 1 | g.209634635G>C | CA344596311 | LAMB3 | c.376C>G (p.Pro126Ala) c.373-1502C>G (n.373-1502C>G) | |
| 1 | g.209634635G>T | CA344596313 | LAMB3 | c.376C>A (p.Pro126Thr) c.373-1502C>A (n.373-1502C>A) | gnomAD v4 |
| 1 | g.209634636C>A | CA423032897 | LAMB3 | c.375G>T (p.Gly125=) c.373-1503G>T (n.373-1503G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209634636C= | CA2484302794 | LAMB3 | c.375G= (p.Gly125=) c.373-1503G= (n.373-1503G=) | |
| 1 | g.209634636C>G | CA1375986 | LAMB3 | c.375G>C (p.Gly125=) c.373-1503G>C (n.373-1503G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209634636C>T | CA423032898 | LAMB3 | c.375G>A (p.Gly125=) c.373-1503G>A (n.373-1503G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634637C>A | CA344596319 | LAMB3 | c.374G>T (p.Gly125Val) c.373-1504G>T (n.373-1504G>T) | |
| 1 | g.209634637C= | CA1147818991 | LAMB3 | c.374G= (p.Gly125=) c.373-1504G= (n.373-1504G=) | |
| 1 | g.209634637C>G | CA1375987 | LAMB3 | c.374G>C (p.Gly125Ala) c.373-1504G>C (n.373-1504G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209634637C>T | CA344596322 | LAMB3 | c.374G>A (p.Gly125Glu) c.373-1504G>A (n.373-1504G>A) | |
| 1 | g.209634638C>A | CA344596324 | LAMB3 | c.373G>T (p.Gly125Trp) c.373-1505G>T (n.373-1505G>T) | |
| 1 | g.209634638C>G | CA344596325 | LAMB3 | c.373G>C (p.Gly125Arg) c.373-1505G>C (n.373-1505G>C) | |
| 1 | g.209634638C>T | CA344596326 | LAMB3 | c.373G>A (p.Gly125Arg) c.373-1505G>A (n.373-1505G>A) | gnomAD v4 |
| 1 | g.209634639C>A | CA344596329 | LAMB3 | c.373-1G>T (n.373-1G>T) c.373-1506G>T (n.373-1506G>T) | |
| 1 | g.209634639C>G | CA344596330 | LAMB3 | c.373-1G>C (n.373-1G>C) c.373-1506G>C (n.373-1506G>C) | |
| 1 | g.209634639C>T | CA344596332 | LAMB3 | c.373-1G>A (n.373-1G>A) c.373-1506G>A (n.373-1506G>A) | |
| 1 | g.209634640T>A | CA344596336 | LAMB3 | c.373-2A>T (n.373-2A>T) c.373-1507A>T (n.373-1507A>T) | |
| 1 | g.209634640T>C | CA16040707 | LAMB3 | c.373-2A>G (n.373-2A>G) c.373-1507A>G (n.373-1507A>G) | ClinVar dbSNP |
| 1 | g.209634640T>G | CA344596335 | LAMB3 | c.373-2A>C (n.373-2A>C) c.373-1507A>C (n.373-1507A>C) | |
| 1 | g.209634640T= | CA2484302795 | LAMB3 | c.373-2A= (n.373-2A=) c.373-1507A= (n.373-1507A=) | |
| 1 | g.209634641G>A | CA1375988 | LAMB3 | c.373-3C>T (n.373-3C>T) c.373-1508C>T (n.373-1508C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209634641G= | CA2484302796 | LAMB3 | c.373-3C= (n.373-3C=) c.373-1508C= (n.373-1508C=) | |
| 1 | g.209634642T>C | CA2650322956 | LAMB3 | c.373-4A>G (n.373-4A>G) c.373-1509A>G (n.373-1509A>G) | gnomAD v4 |
| 1 | g.209634643_209634646del | CA2650322957 | LAMB3 | c.373-8_373-5del (n.373-8_373-5del) c.373-1513_373-1510del (n.373-1513_373-1510del) | gnomAD v4 |
| 1 | g.209634644G>A | CA2573131530 | LAMB3 | c.373-6C>T (n.373-6C>T) c.373-1511C>T (n.373-1511C>T) | ClinVar dbSNP |
| 1 | g.209634644G>C | CA2484302797 | LAMB3 | c.373-6C>G (n.373-6C>G) c.373-1511C>G (n.373-1511C>G) | dbSNP gnomAD v4 |
| 1 | g.209634644G= | CA2484302798 | LAMB3 | c.373-6C= (n.373-6C=) c.373-1511C= (n.373-1511C=) | |
| 1 | g.209634645A>C | CA2567210436 | LAMB3 | c.373-7T>G (n.373-7T>G) c.373-1512T>G (n.373-1512T>G) | |
| 1 | g.209634646G>A | CA2747562744 | LAMB3 | c.373-8C>T (n.373-8C>T) c.373-1513C>T (n.373-1513C>T) | |
| 1 | g.209634646G>T | CA2650322958 | LAMB3 | c.373-8C>A (n.373-8C>A) c.373-1513C>A (n.373-1513C>A) | gnomAD v4 |
| 1 | g.209634647A>T | CA2586967992 | LAMB3 | c.373-9T>A (n.373-9T>A) c.373-1514T>A (n.373-1514T>A) | |
| 1 | g.209634648C>G | CA2499214427 | LAMB3 | c.373-10G>C (n.373-10G>C) c.373-1515G>C (n.373-1515G>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209634648C>T | CA2650322959 | LAMB3 | c.373-10G>A (n.373-10G>A) c.373-1515G>A (n.373-1515G>A) | gnomAD v4 |
| 1 | g.209634648_209634649delinsCA | CA2484302799 | LAMB3 | c.373-11_373-10delinsTG (n.373-11_373-10delinsTG) c.373-1516_373-1515delinsTG (n.373-1516_373-1515delinsTG) | |
| 1 | g.209634649del | CA1375989 | LAMB3 | c.373-11del (n.373-11del) c.373-1516del (n.373-1516del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209634649A>G | CA2650322960 | LAMB3 | c.373-11T>C (n.373-11T>C) c.373-1516T>C (n.373-1516T>C) | gnomAD v4 |