Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209618569T>ACA344585187LAMB3c.2792A>T (p.Lys931Met)
c.-2A>T (n.-2A>T)
c.2600A>T (p.Lys867Met)
1g.209618569T>CCA344585188LAMB3c.2792A>G (p.Lys931Arg)
c.-2A>G (n.-2A>G)
c.2600A>G (p.Lys867Arg)
1g.209618569T>GCA344585189LAMB3c.2792A>C (p.Lys931Thr)
c.-2A>C (n.-2A>C)
c.2600A>C (p.Lys867Thr)
1g.209618570T>ACA344585190LAMB3c.2791A>T (p.Lys931Ter)
c.-3A>T (n.-3A>T)
c.2599A>T (p.Lys867Ter)
1g.209618570T>CCA344585191LAMB3c.2791A>G (p.Lys931Glu)
c.-3A>G (n.-3A>G)
c.2599A>G (p.Lys867Glu)
 dbSNP
1g.209618570T>GCA344585192LAMB3c.2791A>C (p.Lys931Gln)
c.-3A>C (n.-3A>C)
c.2599A>C (p.Lys867Gln)
1g.209618570T=CA2484296297LAMB3c.2791A= (p.Lys931=)
c.-3A= (n.-3A=)
c.2599A= (p.Lys867=)
1g.209618571C>ACA344585193LAMB3c.2790G>T (p.Gln930His)
c.-4G>T (n.-4G>T)
c.2598G>T (p.Gln866His)
1g.209618571C=CA2484296298LAMB3c.2790G= (p.Gln930=)
c.-4G= (n.-4G=)
c.2598G= (p.Gln866=)
1g.209618571C>GCA344585194LAMB3c.2790G>C (p.Gln930His)
c.-4G>C (n.-4G>C)
c.2598G>C (p.Gln866His)
1g.209618571C>TCA1375095LAMB3c.2790G>A (p.Gln930=)
c.-4G>A (n.-4G>A)
c.2598G>A (p.Gln866=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209618572T>ACA344585195LAMB3c.2789A>T (p.Gln930Leu)
c.-5A>T (n.-5A>T)
c.2597A>T (p.Gln866Leu)
1g.209618572T>CCA344585196LAMB3c.2789A>G (p.Gln930Arg)
c.-5A>G (n.-5A>G)
c.2597A>G (p.Gln866Arg)
 COSMIC
1g.209618572T>GCA344585197LAMB3c.2789A>C (p.Gln930Pro)
c.-5A>C (n.-5A>C)
c.2597A>C (p.Gln866Pro)
 dbSNP
1g.209618572T=CA2484296299LAMB3c.2789A= (p.Gln930=)
c.-5A= (n.-5A=)
c.2597A= (p.Gln866=)
1g.209618573G>ACA344585198LAMB3c.2788C>T (p.Gln930Ter)
c.-6C>T (n.-6C>T)
c.2596C>T (p.Gln866Ter)
 ClinVar dbSNP gnomAD v4
1g.209618573G>CCA344585199LAMB3c.2788C>G (p.Gln930Glu)
c.-6C>G (n.-6C>G)
c.2596C>G (p.Gln866Glu)
1g.209618573G>TCA344585200LAMB3c.2788C>A (p.Gln930Lys)
c.-6C>A (n.-6C>A)
c.2596C>A (p.Gln866Lys)
 COSMIC
1g.209618574C>ACA423030108LAMB3c.2787G>T (p.Leu929=)
c.-7G>T (n.-7G>T)
c.2595G>T (p.Leu865=)
1g.209618574C>GCA423030109LAMB3c.2787G>C (p.Leu929=)
c.-7G>C (n.-7G>C)
c.2595G>C (p.Leu865=)
1g.209618574C>TCA423030110LAMB3c.2787G>A (p.Leu929=)
c.-7G>A (n.-7G>A)
c.2595G>A (p.Leu865=)
 gnomAD v4
1g.209618575A>CCA344585201LAMB3c.2786T>G (p.Leu929Arg)
c.-8T>G (n.-8T>G)
c.2594T>G (p.Leu865Arg)
1g.209618575A>GCA344585203LAMB3c.2786T>C (p.Leu929Pro)
c.-8T>C (n.-8T>C)
c.2594T>C (p.Leu865Pro)
1g.209618575A>TCA344585202LAMB3c.2786T>A (p.Leu929Gln)
c.-8T>A (n.-8T>A)
c.2594T>A (p.Leu865Gln)
1g.209618576G>ACA423030114LAMB3c.2785C>T (p.Leu929=)
c.-9C>T (n.-9C>T)
c.2593C>T (p.Leu865=)
 ClinVar dbSNP
1g.209618576G>CCA344585204LAMB3c.2785C>G (p.Leu929Val)
c.-9C>G (n.-9C>G)
c.2593C>G (p.Leu865Val)
1g.209618576G>TCA344585205LAMB3c.2785C>A (p.Leu929Met)
c.-9C>A (n.-9C>A)
c.2593C>A (p.Leu865Met)
1g.209618577A>CCA423030115LAMB3c.2784T>G (p.Val928=)
c.-10T>G (n.-10T>G)
c.2592T>G (p.Val864=)
1g.209618577A>GCA423030116LAMB3c.2784T>C (p.Val928=)
c.-10T>C (n.-10T>C)
c.2592T>C (p.Val864=)
1g.209618577A>TCA423030117LAMB3c.2784T>A (p.Val928=)
c.-10T>A (n.-10T>A)
c.2592T>A (p.Val864=)
1g.209618578A>CCA344585206LAMB3c.2783T>G (p.Val928Gly)
c.-11T>G (n.-11T>G)
c.2591T>G (p.Val864Gly)
1g.209618578A>GCA344585207LAMB3c.2783T>C (p.Val928Ala)
c.-11T>C (n.-11T>C)
c.2591T>C (p.Val864Ala)
 gnomAD v4
1g.209618578A>TCA344585208LAMB3c.2783T>A (p.Val928Asp)
c.-11T>A (n.-11T>A)
c.2591T>A (p.Val864Asp)
1g.209618579C>ACA344585210LAMB3c.2782G>T (p.Val928Phe)
c.-12G>T (n.-12G>T)
c.2590G>T (p.Val864Phe)
1g.209618579C=CA2484296300LAMB3c.2782G= (p.Val928=)
c.-12G= (n.-12G=)
c.2590G= (p.Val864=)
1g.209618579C>GCA344585211LAMB3c.2782G>C (p.Val928Leu)
c.-12G>C (n.-12G>C)
c.2590G>C (p.Val864Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.209618579C>TCA344585209LAMB3c.2782G>A (p.Val928Ile)
c.-12G>A (n.-12G>A)
c.2590G>A (p.Val864Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.209618580A=CA2484296301LAMB3c.2781T= (p.Thr927=)
c.-13T= (n.-13T=)
c.2589T= (p.Thr863=)
1g.209618580A>CCA36750229LAMB3c.2781T>G (p.Thr927=)
c.-13T>G (n.-13T>G)
c.2589T>G (p.Thr863=)
 dbSNP
1g.209618580A>GCA423030120LAMB3c.2781T>C (p.Thr927=)
c.-13T>C (n.-13T>C)
c.2589T>C (p.Thr863=)
1g.209618580A>TCA423030121LAMB3c.2781T>A (p.Thr927=)
c.-13T>A (n.-13T>A)
c.2589T>A (p.Thr863=)
1g.209618581G>ACA344585212LAMB3c.2780C>T (p.Thr927Ile)
c.-14C>T (n.-14C>T)
c.2588C>T (p.Thr863Ile)
1g.209618581G>CCA344585213LAMB3c.2780C>G (p.Thr927Ser)
c.-14C>G (n.-14C>G)
c.2588C>G (p.Thr863Ser)
1g.209618581G>TCA344585214LAMB3c.2780C>A (p.Thr927Asn)
c.-14C>A (n.-14C>A)
c.2588C>A (p.Thr863Asn)
1g.209618582T>ACA344585215LAMB3c.2779A>T (p.Thr927Ser)
c.-15A>T (n.-15A>T)
c.2587A>T (p.Thr863Ser)
1g.209618582T>CCA1375096LAMB3c.2779A>G (p.Thr927Ala)
c.-15A>G (n.-15A>G)
c.2587A>G (p.Thr863Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209618582T>GCA344585216LAMB3c.2779A>C (p.Thr927Pro)
c.-15A>C (n.-15A>C)
c.2587A>C (p.Thr863Pro)
1g.209618582T=CA2484296302LAMB3c.2779A= (p.Thr927=)
c.-15A= (n.-15A=)
c.2587A= (p.Thr863=)
1g.209618583A>CCA423030123LAMB3c.2778T>G (p.Ala926=)
c.-16T>G (n.-16T>G)
c.2586T>G (p.Ala862=)
1g.209618583A>GCA423030124LAMB3c.2778T>C (p.Ala926=)
c.-16T>C (n.-16T>C)
c.2586T>C (p.Ala862=)
 ClinVar
1g.209618583A>TCA423030125LAMB3c.2778T>A (p.Ala926=)
c.-16T>A (n.-16T>A)
c.2586T>A (p.Ala862=)
1g.209618584G>ACA344585218LAMB3c.2777C>T (p.Ala926Val)
c.-17C>T (n.-17C>T)
c.2585C>T (p.Ala862Val)
1g.209618584G>CCA344585217LAMB3c.2777C>G (p.Ala926Gly)
c.-17C>G (n.-17C>G)
c.2585C>G (p.Ala862Gly)
 ClinVar dbSNP
1g.209618584G=CA1139912083LAMB3c.2777C= (p.Ala926=)
c.-17C= (n.-17C=)
c.2585C= (p.Ala862=)
1g.209618584G>TCA1375097LAMB3c.2777C>A (p.Ala926Asp)
c.-17C>A (n.-17C>A)
c.2585C>A (p.Ala862Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618585C>ACA344585219LAMB3c.2776G>T (p.Ala926Ser)
c.-18G>T (n.-18G>T)
c.2584G>T (p.Ala862Ser)
1g.209618585C>GCA344585220LAMB3c.2776G>C (p.Ala926Pro)
c.-18G>C (n.-18G>C)
c.2584G>C (p.Ala862Pro)
1g.209618585C>TCA344585221LAMB3c.2776G>A (p.Ala926Thr)
c.-18G>A (n.-18G>A)
c.2584G>A (p.Ala862Thr)
1g.209618586T>ACA423030127LAMB3c.2775A>T (p.Ser925=)
c.-19A>T (n.-19A>T)
c.2583A>T (p.Ser861=)
1g.209618586T>CCA423030128LAMB3c.2775A>G (p.Ser925=)
c.-19A>G (n.-19A>G)
c.2583A>G (p.Ser861=)
1g.209618586T>GCA423030130LAMB3c.2775A>C (p.Ser925=)
c.-19A>C (n.-19A>C)
c.2583A>C (p.Ser861=)
1g.209618587G>ACA36750234LAMB3c.2774C>T (p.Ser925Leu)
c.-20C>T (n.-20C>T)
c.2582C>T (p.Ser861Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.209618587G>CCA344585222LAMB3c.2774C>G (p.Ser925Ter)
c.-20C>G (n.-20C>G)
c.2582C>G (p.Ser861Ter)
1g.209618587G=CA1147672332LAMB3c.2774C= (p.Ser925=)
c.-20C= (n.-20C=)
c.2582C= (p.Ser861=)
1g.209618587G>TCA344585223LAMB3c.2774C>A (p.Ser925Ter)
c.-20C>A (n.-20C>A)
c.2582C>A (p.Ser861Ter)
1g.209618588_209618589delCA2580061994LAMB3c.2773_2774del (p.Ala926TyrfsTer8)
c.-21_-20del (n.-21_-20del)
c.2581_2582del (p.Ala862TyrfsTer8)
 ClinVar
1g.209618588A>CCA344585224LAMB3c.2773T>G (p.Ser925Ala)
c.-21T>G (n.-21T>G)
c.2581T>G (p.Ser861Ala)
 gnomAD v4
1g.209618588A>GCA344585226LAMB3c.2773T>C (p.Ser925Pro)
c.-21T>C (n.-21T>C)
c.2581T>C (p.Ser861Pro)
1g.209618588A>TCA344585225LAMB3c.2773T>A (p.Ser925Thr)
c.-21T>A (n.-21T>A)
c.2581T>A (p.Ser861Thr)
1g.209618589G>ACA423030134LAMB3c.2772C>T (p.Asp924=)
c.-22C>T (n.-22C>T)
c.2580C>T (p.Asp860=)
 ClinVar dbSNP
1g.209618589G>CCA344585227LAMB3c.2772C>G (p.Asp924Glu)
c.-22C>G (n.-22C>G)
c.2580C>G (p.Asp860Glu)
1g.209618589G>TCA344585228LAMB3c.2772C>A (p.Asp924Glu)
c.-22C>A (n.-22C>A)
c.2580C>A (p.Asp860Glu)
1g.209618590T>ACA344585229LAMB3c.2771A>T (p.Asp924Val)
c.-23A>T (n.-23A>T)
c.2579A>T (p.Asp860Val)
 dbSNP
1g.209618590T>CCA344585230LAMB3c.2771A>G (p.Asp924Gly)
c.-23A>G (n.-23A>G)
c.2579A>G (p.Asp860Gly)
1g.209618590T>GCA344585231LAMB3c.2771A>C (p.Asp924Ala)
c.-23A>C (n.-23A>C)
c.2579A>C (p.Asp860Ala)
 gnomAD v4
1g.209618590T=CA2484296303LAMB3c.2771A= (p.Asp924=)
c.-23A= (n.-23A=)
c.2579A= (p.Asp860=)
1g.209618591C>ACA344585232LAMB3c.2770G>T (p.Asp924Tyr)
c.-24G>T (n.-24G>T)
c.2578G>T (p.Asp860Tyr)
1g.209618591C=CA2484296304LAMB3c.2770G= (p.Asp924=)
c.-24G= (n.-24G=)
c.2578G= (p.Asp860=)
1g.209618591C>GCA344585233LAMB3c.2770G>C (p.Asp924His)
c.-24G>C (n.-24G>C)
c.2578G>C (p.Asp860His)
1g.209618591C>TCA344585234LAMB3c.2770G>A (p.Asp924Asn)
c.-24G>A (n.-24G>A)
c.2578G>A (p.Asp860Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209618591_209618593delinsCTGCA2484296305LAMB3c.2768_2770delinsCAG (p.Thr923=)
c.-26_-24delinsCAG (n.-26_-24delinsCAG)
c.2576_2578delinsCAG (p.Thr859=)
1g.209618592T>ACA423030137LAMB3c.2769A>T (p.Thr923=)
c.-25A>T (n.-25A>T)
c.2577A>T (p.Thr859=)
1g.209618592T>CCA423030138LAMB3c.2769A>G (p.Thr923=)
c.-25A>G (n.-25A>G)
c.2577A>G (p.Thr859=)
1g.209618592T>GCA423030139LAMB3c.2769A>C (p.Thr923=)
c.-25A>C (n.-25A>C)
c.2577A>C (p.Thr859=)
1g.209618594_209618595delCA913189882LAMB3c.2768_2769del (p.Thr923ArgfsTer11)
c.-26_-25del (n.-26_-25del)
c.2576_2577del (p.Thr859ArgfsTer11)
 ClinVar dbSNP
1g.209618593G>ACA344585235LAMB3c.2768C>T (p.Thr923Ile)
c.-26C>T (n.-26C>T)
c.2576C>T (p.Thr859Ile)
1g.209618593G>CCA344585236LAMB3c.2768C>G (p.Thr923Arg)
c.-26C>G (n.-26C>G)
c.2576C>G (p.Thr859Arg)
1g.209618593G>TCA344585237LAMB3c.2768C>A (p.Thr923Lys)
c.-26C>A (n.-26C>A)
c.2576C>A (p.Thr859Lys)
1g.209618594T>ACA344585238LAMB3c.2767A>T (p.Thr923Ser)
c.-27A>T (n.-27A>T)
c.2575A>T (p.Thr859Ser)
1g.209618594T>CCA344585240LAMB3c.2767A>G (p.Thr923Ala)
c.-27A>G (n.-27A>G)
c.2575A>G (p.Thr859Ala)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.209618594T>GCA344585239LAMB3c.2767A>C (p.Thr923Pro)
c.-27A>C (n.-27A>C)
c.2575A>C (p.Thr859Pro)
 dbSNP
1g.209618594T=CA2484296306LAMB3c.2767A= (p.Thr923=)
c.-27A= (n.-27A=)
c.2575A= (p.Thr859=)
1g.209618595G>ACA423030143LAMB3c.2766C>T (p.Pro922=)
c.-28C>T (n.-28C>T)
c.2574C>T (p.Pro858=)
1g.209618595G>CCA423030144LAMB3c.2766C>G (p.Pro922=)
c.-28C>G (n.-28C>G)
c.2574C>G (p.Pro858=)
1g.209618595G>TCA423030145LAMB3c.2766C>A (p.Pro922=)
c.-28C>A (n.-28C>A)
c.2574C>A (p.Pro858=)
1g.209618596_209618688delCA2586967985LAMB3c.2702-28_2766del
c.-120_-28del (n.-120_-28del)
c.2510-28_2574del
1g.209618596G>ACA344585241LAMB3c.2765C>T (p.Pro922Leu)
c.-29C>T (n.-29C>T)
c.2573C>T (p.Pro858Leu)
1g.209618596G>CCA344585242LAMB3c.2765C>G (p.Pro922Arg)
c.-29C>G (n.-29C>G)
c.2573C>G (p.Pro858Arg)
1g.209618596G>TCA344585243LAMB3c.2765C>A (p.Pro922His)
c.-29C>A (n.-29C>A)
c.2573C>A (p.Pro858His)
1g.209618597G>ACA344585244LAMB3c.2764C>T (p.Pro922Ser)
c.-30C>T (n.-30C>T)
c.2572C>T (p.Pro858Ser)
 gnomAD v4
1g.209618597G>CCA1375098LAMB3c.2764C>G (p.Pro922Ala)
c.-30C>G (n.-30C>G)
c.2572C>G (p.Pro858Ala)
 dbSNP ExAC gnomAD v2
1g.209618597G=CA2484296307LAMB3c.2764C= (p.Pro922=)
c.-30C= (n.-30C=)
c.2572C= (p.Pro858=)
1g.209618597G>TCA344585245LAMB3c.2764C>A (p.Pro922Thr)
c.-30C>A (n.-30C>A)
c.2572C>A (p.Pro858Thr)
1g.209618598C>ACA423030148LAMB3c.2763G>T (p.Leu921=)
c.-31G>T (n.-31G>T)
c.2571G>T (p.Leu857=)
1g.209618598C>GCA423030149LAMB3c.2763G>C (p.Leu921=)
c.-31G>C (n.-31G>C)
c.2571G>C (p.Leu857=)
1g.209618598C>TCA423030150LAMB3c.2763G>A (p.Leu921=)
c.-31G>A (n.-31G>A)
c.2571G>A (p.Leu857=)
 ClinVar dbSNP gnomAD v4
1g.209618599A>CCA344585246LAMB3c.2762T>G (p.Leu921Arg)
c.-32T>G (n.-32T>G)
c.2570T>G (p.Leu857Arg)
1g.209618599A>GCA344585247LAMB3c.2762T>C (p.Leu921Pro)
c.-32T>C (n.-32T>C)
c.2570T>C (p.Leu857Pro)
1g.209618599A>TCA344585248LAMB3c.2762T>A (p.Leu921Gln)
c.-32T>A (n.-32T>A)
c.2570T>A (p.Leu857Gln)
1g.209618600G>ACA423030153LAMB3c.2761C>T (p.Leu921=)
c.-33C>T (n.-33C>T)
c.2569C>T (p.Leu857=)
 dbSNP gnomAD v3 gnomAD v4
1g.209618600G>CCA344585249LAMB3c.2761C>G (p.Leu921Val)
c.-33C>G (n.-33C>G)
c.2569C>G (p.Leu857Val)
1g.209618600G=CA1145159424LAMB3c.2761C= (p.Leu921=)
c.-33C= (n.-33C=)
c.2569C= (p.Leu857=)
1g.209618600G>TCA1375099LAMB3c.2761C>A (p.Leu921Met)
c.-33C>A (n.-33C>A)
c.2569C>A (p.Leu857Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618601C>ACA344585252LAMB3c.2760G>T (p.Trp920Cys)
c.-34G>T (n.-34G>T)
c.2568G>T (p.Trp856Cys)
1g.209618601C>GCA344585251LAMB3c.2760G>C (p.Trp920Cys)
c.-34G>C (n.-34G>C)
c.2568G>C (p.Trp856Cys)
1g.209618601C>TCA344585250LAMB3c.2760G>A (p.Trp920Ter)
c.-34G>A (n.-34G>A)
c.2568G>A (p.Trp856Ter)
1g.209618602C>ACA344585253LAMB3c.2759G>T (p.Trp920Leu)
c.-35G>T (n.-35G>T)
c.2567G>T (p.Trp856Leu)
1g.209618602C=CA2484296308LAMB3c.2759G= (p.Trp920=)
c.-35G= (n.-35G=)
c.2567G= (p.Trp856=)
1g.209618602C>GCA344585254LAMB3c.2759G>C (p.Trp920Ser)
c.-35G>C (n.-35G>C)
c.2567G>C (p.Trp856Ser)
1g.209618602C>TCA344585255LAMB3c.2759G>A (p.Trp920Ter)
c.-35G>A (n.-35G>A)
c.2567G>A (p.Trp856Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.209618603A>CCA344585256LAMB3c.2758T>G (p.Trp920Gly)
c.-36T>G (n.-36T>G)
c.2566T>G (p.Trp856Gly)
1g.209618603A>GCA344585257LAMB3c.2758T>C (p.Trp920Arg)
c.-36T>C (n.-36T>C)
c.2566T>C (p.Trp856Arg)
1g.209618603A>TCA344585258LAMB3c.2758T>A (p.Trp920Arg)
c.-36T>A (n.-36T>A)
c.2566T>A (p.Trp856Arg)
1g.209618603_209618604delinsACCA2484296309LAMB3c.2757_2758delinsGT (p.Leu919=)
c.-37_-36delinsGT (n.-37_-36delinsGT)
c.2565_2566delinsGT (p.Leu855=)
1g.209618604delCA529000172LAMB3c.2757del (p.Trp920GlyfsTer13)
c.-37del (n.-37del)
c.2565del (p.Trp856GlyfsTer13)
 dbSNP gnomAD v2
1g.209618604C>ACA423030156LAMB3c.2757G>T (p.Leu919=)
c.-37G>T (n.-37G>T)
c.2565G>T (p.Leu855=)
1g.209618604C=CA2484296310LAMB3c.2757G= (p.Leu919=)
c.-37G= (n.-37G=)
c.2565G= (p.Leu855=)
1g.209618604C>GCA423030158LAMB3c.2757G>C (p.Leu919=)
c.-37G>C (n.-37G>C)
c.2565G>C (p.Leu855=)
1g.209618604C>TCA423030160LAMB3c.2757G>A (p.Leu919=)
c.-37G>A (n.-37G>A)
c.2565G>A (p.Leu855=)
 ClinVar dbSNP
1g.209618605A>CCA344585259LAMB3c.2756T>G (p.Leu919Arg)
c.-38T>G (n.-38T>G)
c.2564T>G (p.Leu855Arg)
1g.209618605A>GCA344585260LAMB3c.2756T>C (p.Leu919Pro)
c.-38T>C (n.-38T>C)
c.2564T>C (p.Leu855Pro)
 gnomAD v4
1g.209618605A>TCA344585261LAMB3c.2756T>A (p.Leu919Gln)
c.-38T>A (n.-38T>A)
c.2564T>A (p.Leu855Gln)
1g.209618606G>ACA1375100LAMB3c.2755C>T (p.Leu919=)
c.-39C>T (n.-39C>T)
c.2563C>T (p.Leu855=)
 ClinVar dbSNP ExAC gnomAD v2
1g.209618606G>CCA344585262LAMB3c.2755C>G (p.Leu919Val)
c.-39C>G (n.-39C>G)
c.2563C>G (p.Leu855Val)
1g.209618606G=CA2484296311LAMB3c.2755C= (p.Leu919=)
c.-39C= (n.-39C=)
c.2563C= (p.Leu855=)
1g.209618606G>TCA344585263LAMB3c.2755C>A (p.Leu919Met)
c.-39C>A (n.-39C>A)
c.2563C>A (p.Leu855Met)
1g.209618607G>ACA1375101LAMB3c.2754C>T (p.Ala918=)
c.-40C>T (n.-40C>T)
c.2562C>T (p.Ala854=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618607G>CCA423030166LAMB3c.2754C>G (p.Ala918=)
c.-40C>G (n.-40C>G)
c.2562C>G (p.Ala854=)
 dbSNP gnomAD v2 gnomAD v4
1g.209618607G=CA1146556821LAMB3c.2754C= (p.Ala918=)
c.-40C= (n.-40C=)
c.2562C= (p.Ala854=)
1g.209618607G>TCA423030165LAMB3c.2754C>A (p.Ala918=)
c.-40C>A (n.-40C>A)
c.2562C>A (p.Ala854=)
 COSMIC
1g.209618608G>ACA36750247LAMB3c.2753C>T (p.Ala918Val)
c.-41C>T (n.-41C>T)
c.2561C>T (p.Ala854Val)
 dbSNP
1g.209618608G>CCA36750250LAMB3c.2753C>G (p.Ala918Gly)
c.-41C>G (n.-41C>G)
c.2561C>G (p.Ala854Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.209618608G=CA1143484231LAMB3c.2753C= (p.Ala918=)
c.-41C= (n.-41C=)
c.2561C= (p.Ala854=)
1g.209618608G>TCA344585264LAMB3c.2753C>A (p.Ala918Asp)
c.-41C>A (n.-41C>A)
c.2561C>A (p.Ala854Asp)
1g.209618609C>ACA344585265LAMB3c.2752G>T (p.Ala918Ser)
c.-42G>T (n.-42G>T)
c.2560G>T (p.Ala854Ser)
1g.209618609C=CA2484296312LAMB3c.2752G= (p.Ala918=)
c.-42G= (n.-42G=)
c.2560G= (p.Ala854=)
1g.209618609C>GCA344585266LAMB3c.2752G>C (p.Ala918Pro)
c.-42G>C (n.-42G>C)
c.2560G>C (p.Ala854Pro)
1g.209618609C>TCA344585267LAMB3c.2752G>A (p.Ala918Thr)
c.-42G>A (n.-42G>A)
c.2560G>A (p.Ala854Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.209618610C>ACA423030167LAMB3c.2751G>T (p.Leu917=)
c.-43G>T (n.-43G>T)
c.2559G>T (p.Leu853=)
 ClinVar
1g.209618610C>GCA423030168LAMB3c.2751G>C (p.Leu917=)
c.-43G>C (n.-43G>C)
c.2559G>C (p.Leu853=)
1g.209618610C>TCA423030170LAMB3c.2751G>A (p.Leu917=)
c.-43G>A (n.-43G>A)
c.2559G>A (p.Leu853=)
 ClinVar
1g.209618611A=CA2484296313LAMB3c.2750T= (p.Leu917=)
c.-44T= (n.-44T=)
c.2558T= (p.Leu853=)
1g.209618611A>CCA344585268LAMB3c.2750T>G (p.Leu917Arg)
c.-44T>G (n.-44T>G)
c.2558T>G (p.Leu853Arg)
1g.209618611A>GCA344585269LAMB3c.2750T>C (p.Leu917Pro)
c.-44T>C (n.-44T>C)
c.2558T>C (p.Leu853Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.209618611A>TCA344585270LAMB3c.2750T>A (p.Leu917Gln)
c.-44T>A (n.-44T>A)
c.2558T>A (p.Leu853Gln)
1g.209618612G>ACA423030173LAMB3c.2749C>T (p.Leu917=)
c.-45C>T (n.-45C>T)
c.2557C>T (p.Leu853=)
1g.209618612G>CCA344585271LAMB3c.2749C>G (p.Leu917Val)
c.-45C>G (n.-45C>G)
c.2557C>G (p.Leu853Val)
1g.209618612G>TCA344585272LAMB3c.2749C>A (p.Leu917Met)
c.-45C>A (n.-45C>A)
c.2557C>A (p.Leu853Met)
1g.209618613C>ACA423030174LAMB3c.2748G>T (p.Val916=)
c.-46G>T (n.-46G>T)
c.2556G>T (p.Val852=)
1g.209618613C=CA2484296314LAMB3c.2748G= (p.Val916=)
c.-46G= (n.-46G=)
c.2556G= (p.Val852=)
1g.209618613C>GCA1375102LAMB3c.2748G>C (p.Val916=)
c.-46G>C (n.-46G>C)
c.2556G>C (p.Val852=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209618613C>TCA423030175LAMB3c.2748G>A (p.Val916=)
c.-46G>A (n.-46G>A)
c.2556G>A (p.Val852=)
 dbSNP gnomAD v3 gnomAD v4
1g.209618614A=CA2484296315LAMB3c.2747T= (p.Val916=)
c.-47T= (n.-47T=)
c.2555T= (p.Val852=)
1g.209618614A>CCA344585273LAMB3c.2747T>G (p.Val916Gly)
c.-47T>G (n.-47T>G)
c.2555T>G (p.Val852Gly)
1g.209618614A>GCA1375103LAMB3c.2747T>C (p.Val916Ala)
c.-47T>C (n.-47T>C)
c.2555T>C (p.Val852Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209618614A>TCA344585274LAMB3c.2747T>A (p.Val916Glu)
c.-47T>A (n.-47T>A)
c.2555T>A (p.Val852Glu)
1g.209618615C>ACA344585275LAMB3c.2746G>T (p.Val916Leu)
c.-48G>T (n.-48G>T)
c.2554G>T (p.Val852Leu)
1g.209618615C=CA1142028142LAMB3c.2746G= (p.Val916=)
c.-48G= (n.-48G=)
c.2554G= (p.Val852=)
1g.209618615C>GCA344585276LAMB3c.2746G>C (p.Val916Leu)
c.-48G>C (n.-48G>C)
c.2554G>C (p.Val852Leu)
1g.209618615C>TCA1375104LAMB3c.2746G>A (p.Val916Met)
c.-48G>A (n.-48G>A)
c.2554G>A (p.Val852Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618616G>ACA1375105LAMB3c.2745C>T (p.Ala915=)
c.-49C>T (n.-49C>T)
c.2553C>T (p.Ala851=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618616G>CCA423030178LAMB3c.2745C>G (p.Ala915=)
c.-49C>G (n.-49C>G)
c.2553C>G (p.Ala851=)
1g.209618616G=CA1143419052LAMB3c.2745C= (p.Ala915=)
c.-49C= (n.-49C=)
c.2553C= (p.Ala851=)
1g.209618616G>TCA423030180LAMB3c.2745C>A (p.Ala915=)
c.-49C>A (n.-49C>A)
c.2553C>A (p.Ala851=)
 gnomAD v4
1g.209618617G>ACA344585277LAMB3c.2744C>T (p.Ala915Val)
c.-50C>T (n.-50C>T)
c.2552C>T (p.Ala851Val)
 gnomAD v4
1g.209618617G>CCA344585278LAMB3c.2744C>G (p.Ala915Gly)
c.-50C>G (n.-50C>G)
c.2552C>G (p.Ala851Gly)
1g.209618617G>TCA344585279LAMB3c.2744C>A (p.Ala915Asp)
c.-50C>A (n.-50C>A)
c.2552C>A (p.Ala851Asp)
1g.209618618C>ACA344585280LAMB3c.2743G>T (p.Ala915Ser)
c.-51G>T (n.-51G>T)
c.2551G>T (p.Ala851Ser)
1g.209618618C>GCA344585281LAMB3c.2743G>C (p.Ala915Pro)
c.-51G>C (n.-51G>C)
c.2551G>C (p.Ala851Pro)
1g.209618618C>TCA344585282LAMB3c.2743G>A (p.Ala915Thr)
c.-51G>A (n.-51G>A)
c.2551G>A (p.Ala851Thr)
1g.209618619C>ACA344585283LAMB3c.2742G>T (p.Glu914Asp)
c.-52G>T (n.-52G>T)
c.2550G>T (p.Glu850Asp)
1g.209618619C>GCA344585284LAMB3c.2742G>C (p.Glu914Asp)
c.-52G>C (n.-52G>C)
c.2550G>C (p.Glu850Asp)
1g.209618619C>TCA423030181LAMB3c.2742G>A (p.Glu914=)
c.-52G>A (n.-52G>A)
c.2550G>A (p.Glu850=)
1g.209618620T>ACA344585285LAMB3c.2741A>T (p.Glu914Val)
c.-53A>T (n.-53A>T)
c.2549A>T (p.Glu850Val)
1g.209618620T>CCA344585286LAMB3c.2741A>G (p.Glu914Gly)
c.-53A>G (n.-53A>G)
c.2549A>G (p.Glu850Gly)
1g.209618620T>GCA344585287LAMB3c.2741A>C (p.Glu914Ala)
c.-53A>C (n.-53A>C)
c.2549A>C (p.Glu850Ala)
1g.209618621C>ACA344585288LAMB3c.2740G>T (p.Glu914Ter)
c.-54G>T (n.-54G>T)
c.2548G>T (p.Glu850Ter)
1g.209618621C=CA2484296316LAMB3c.2740G= (p.Glu914=)
c.-54G= (n.-54G=)
c.2548G= (p.Glu850=)
1g.209618621C>GCA344585289LAMB3c.2740G>C (p.Glu914Gln)
c.-54G>C (n.-54G>C)
c.2548G>C (p.Glu850Gln)
 dbSNP
1g.209618621C>TCA1375106LAMB3c.2740G>A (p.Glu914Lys)
c.-54G>A (n.-54G>A)
c.2548G>A (p.Glu850Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209618622G>ACA1375107LAMB3c.2739C>T (p.Ser913=)
c.-55C>T (n.-55C>T)
c.2547C>T (p.Ser849=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618622G>CCA344585291LAMB3c.2739C>G (p.Ser913Arg)
c.-55C>G (n.-55C>G)
c.2547C>G (p.Ser849Arg)
 gnomAD v4
1g.209618622G=CA1146349967LAMB3c.2739C= (p.Ser913=)
c.-55C= (n.-55C=)
c.2547C= (p.Ser849=)
1g.209618622G>TCA344585290LAMB3c.2739C>A (p.Ser913Arg)
c.-55C>A (n.-55C>A)
c.2547C>A (p.Ser849Arg)
 gnomAD v4
1g.209618623C>ACA344585292LAMB3c.2738G>T (p.Ser913Ile)
c.-56G>T (n.-56G>T)
c.2546G>T (p.Ser849Ile)
1g.209618623C>GCA344585293LAMB3c.2738G>C (p.Ser913Thr)
c.-56G>C (n.-56G>C)
c.2546G>C (p.Ser849Thr)
1g.209618623C>TCA344585294LAMB3c.2738G>A (p.Ser913Asn)
c.-56G>A (n.-56G>A)
c.2546G>A (p.Ser849Asn)
 gnomAD v4
1g.209618624T>ACA344585295LAMB3c.2737A>T (p.Ser913Cys)
c.-57A>T (n.-57A>T)
c.2545A>T (p.Ser849Cys)
1g.209618624T>CCA344585296LAMB3c.2737A>G (p.Ser913Gly)
c.-57A>G (n.-57A>G)
c.2545A>G (p.Ser849Gly)
1g.209618624T>GCA344585297LAMB3c.2737A>C (p.Ser913Arg)
c.-57A>C (n.-57A>C)
c.2545A>C (p.Ser849Arg)
1g.209618625G>ACA423030186LAMB3c.2736C>T (p.Val912=)
c.-58C>T (n.-58C>T)
c.2544C>T (p.Val848=)
 gnomAD v4
1g.209618625G>CCA423030185LAMB3c.2736C>G (p.Val912=)
c.-58C>G (n.-58C>G)
c.2544C>G (p.Val848=)
1g.209618625G>TCA423030184LAMB3c.2736C>A (p.Val912=)
c.-58C>A (n.-58C>A)
c.2544C>A (p.Val848=)
1g.209618626A>CCA344585300LAMB3c.2735T>G (p.Val912Gly)
c.-59T>G (n.-59T>G)
c.2543T>G (p.Val848Gly)
 COSMIC
1g.209618626A>GCA344585298LAMB3c.2735T>C (p.Val912Ala)
c.-59T>C (n.-59T>C)
c.2543T>C (p.Val848Ala)
1g.209618626A>TCA344585299LAMB3c.2735T>A (p.Val912Asp)
c.-59T>A (n.-59T>A)
c.2543T>A (p.Val848Asp)
1g.209618627C>ACA344585301LAMB3c.2734G>T (p.Val912Phe)
c.-60G>T (n.-60G>T)
c.2542G>T (p.Val848Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.209618627C=CA2484296317LAMB3c.2734G= (p.Val912=)
c.-60G= (n.-60G=)
c.2542G= (p.Val848=)
1g.209618627C>GCA344585302LAMB3c.2734G>C (p.Val912Leu)
c.-60G>C (n.-60G>C)
c.2542G>C (p.Val848Leu)
 gnomAD v4
1g.209618627C>TCA344585303LAMB3c.2734G>A (p.Val912Ile)
c.-60G>A (n.-60G>A)
c.2542G>A (p.Val848Ile)
1g.209618630_209618632delCA2650320627LAMB3c.2732_2734del (p.Glu911del)
c.-62_-60del (n.-62_-60del)
c.2540_2542del (p.Glu847del)
 gnomAD v4
1g.209618628C>ACA344585304LAMB3c.2733G>T (p.Glu911Asp)
c.-61G>T (n.-61G>T)
c.2541G>T (p.Glu847Asp)
1g.209618628C>GCA344585305LAMB3c.2733G>C (p.Glu911Asp)
c.-61G>C (n.-61G>C)
c.2541G>C (p.Glu847Asp)
1g.209618628C>TCA423030188LAMB3c.2733G>A (p.Glu911=)
c.-61G>A (n.-61G>A)
c.2541G>A (p.Glu847=)
1g.209618629T>ACA344585306LAMB3c.2732A>T (p.Glu911Val)
c.-62A>T (n.-62A>T)
c.2540A>T (p.Glu847Val)
1g.209618629T>CCA344585308LAMB3c.2732A>G (p.Glu911Gly)
c.-62A>G (n.-62A>G)
c.2540A>G (p.Glu847Gly)
1g.209618629T>GCA344585307LAMB3c.2732A>C (p.Glu911Ala)
c.-62A>C (n.-62A>C)
c.2540A>C (p.Glu847Ala)
1g.209618630C>ACA344585309LAMB3c.2731G>T (p.Glu911Ter)
c.-63G>T (n.-63G>T)
c.2539G>T (p.Glu847Ter)
1g.209618630C>GCA344585310LAMB3c.2731G>C (p.Glu911Gln)
c.-63G>C (n.-63G>C)
c.2539G>C (p.Glu847Gln)
1g.209618630C>TCA344585311LAMB3c.2731G>A (p.Glu911Lys)
c.-63G>A (n.-63G>A)
c.2539G>A (p.Glu847Lys)
 gnomAD v4 COSMIC
1g.209618631C>ACA344585312LAMB3c.2730G>T (p.Gln910His)
c.-64G>T (n.-64G>T)
c.2538G>T (p.Gln846His)
1g.209618631C>GCA344585313LAMB3c.2730G>C (p.Gln910His)
c.-64G>C (n.-64G>C)
c.2538G>C (p.Gln846His)
1g.209618631C>TCA423030189LAMB3c.2730G>A (p.Gln910=)
c.-64G>A (n.-64G>A)
c.2538G>A (p.Gln846=)
1g.209618632T>ACA344585314LAMB3c.2729A>T (p.Gln910Leu)
c.-65A>T (n.-65A>T)
c.2537A>T (p.Gln846Leu)
1g.209618632T>CCA344585315LAMB3c.2729A>G (p.Gln910Arg)
c.-65A>G (n.-65A>G)
c.2537A>G (p.Gln846Arg)
1g.209618632T>GCA344585316LAMB3c.2729A>C (p.Gln910Pro)
c.-65A>C (n.-65A>C)
c.2537A>C (p.Gln846Pro)
1g.209618633G>ACA344585317LAMB3c.2728C>T (p.Gln910Ter)
c.-66C>T (n.-66C>T)
c.2536C>T (p.Gln846Ter)
1g.209618633G>CCA1375108LAMB3c.2728C>G (p.Gln910Glu)
c.-66C>G (n.-66C>G)
c.2536C>G (p.Gln846Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618633G=CA1147752094LAMB3c.2728C= (p.Gln910=)
c.-66C= (n.-66C=)
c.2536C= (p.Gln846=)
1g.209618633G>TCA344585318LAMB3c.2728C>A (p.Gln910Lys)
c.-66C>A (n.-66C>A)
c.2536C>A (p.Gln846Lys)
1g.209618634G>ACA423030190LAMB3c.2727C>T (p.Ile909=)
c.-67C>T (n.-67C>T)
c.2535C>T (p.Ile845=)
 gnomAD v4
1g.209618634G>CCA344585319LAMB3c.2727C>G (p.Ile909Met)
c.-67C>G (n.-67C>G)
c.2535C>G (p.Ile845Met)
1g.209618634G>TCA423030191LAMB3c.2727C>A (p.Ile909=)
c.-67C>A (n.-67C>A)
c.2535C>A (p.Ile845=)
1g.209618635A>CCA344585322LAMB3c.2726T>G (p.Ile909Ser)
c.-68T>G (n.-68T>G)
c.2534T>G (p.Ile845Ser)
1g.209618635A>GCA344585321LAMB3c.2726T>C (p.Ile909Thr)
c.-68T>C (n.-68T>C)
c.2534T>C (p.Ile845Thr)
1g.209618635A>TCA344585320LAMB3c.2726T>A (p.Ile909Asn)
c.-68T>A (n.-68T>A)
c.2534T>A (p.Ile845Asn)
 gnomAD v4
1g.209618636T>ACA344585323LAMB3c.2725A>T (p.Ile909Phe)
c.-69A>T (n.-69A>T)
c.2533A>T (p.Ile845Phe)
1g.209618636T>CCA344585325LAMB3c.2725A>G (p.Ile909Val)
c.-69A>G (n.-69A>G)
c.2533A>G (p.Ile845Val)
 dbSNP gnomAD v4
1g.209618636T>GCA344585324LAMB3c.2725A>C (p.Ile909Leu)
c.-69A>C (n.-69A>C)
c.2533A>C (p.Ile845Leu)
1g.209618636T=CA2484296318LAMB3c.2725A= (p.Ile909=)
c.-69A= (n.-69A=)
c.2533A= (p.Ile845=)
1g.209618636_209618654dupCA2650320628LAMB3c.2707_2725dup (p.Ile909ArgfsTer3)
c.-87_-69dup (n.-87_-69dup)
c.2515_2533dup (p.Ile845ArgfsTer3)
 gnomAD v4
1g.209618637A=CA2484296319LAMB3c.2724T= (p.Thr908=)
c.-70T= (n.-70T=)
c.2532T= (p.Thr844=)
1g.209618637A>CCA423030193LAMB3c.2724T>G (p.Thr908=)
c.-70T>G (n.-70T>G)
c.2532T>G (p.Thr844=)
1g.209618637A>GCA423030194LAMB3c.2724T>C (p.Thr908=)
c.-70T>C (n.-70T>C)
c.2532T>C (p.Thr844=)
1g.209618637A>TCA423030195LAMB3c.2724T>A (p.Thr908=)
c.-70T>A (n.-70T>A)
c.2532T>A (p.Thr844=)
 dbSNP gnomAD v2 gnomAD v4
1g.209618638G>ACA1375109LAMB3c.2723C>T (p.Thr908Ile)
c.-71C>T (n.-71C>T)
c.2531C>T (p.Thr844Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618638G>CCA344585327LAMB3c.2723C>G (p.Thr908Ser)
c.-71C>G (n.-71C>G)
c.2531C>G (p.Thr844Ser)
1g.209618638G=CA1140726407LAMB3c.2723C= (p.Thr908=)
c.-71C= (n.-71C=)
c.2531C= (p.Thr844=)
1g.209618638G>TCA344585326LAMB3c.2723C>A (p.Thr908Asn)
c.-71C>A (n.-71C>A)
c.2531C>A (p.Thr844Asn)
1g.209618639T>ACA344585328LAMB3c.2722A>T (p.Thr908Ser)
c.-72A>T (n.-72A>T)
c.2530A>T (p.Thr844Ser)
1g.209618639T>CCA344585330LAMB3c.2722A>G (p.Thr908Ala)
c.-72A>G (n.-72A>G)
c.2530A>G (p.Thr844Ala)
 dbSNP COSMIC
1g.209618639T>GCA344585329LAMB3c.2722A>C (p.Thr908Pro)
c.-72A>C (n.-72A>C)
c.2530A>C (p.Thr844Pro)
1g.209618639T=CA2484296320LAMB3c.2722A= (p.Thr908=)
c.-72A= (n.-72A=)
c.2530A= (p.Thr844=)
1g.209618640G>ACA423030197LAMB3c.2721C>T (p.Ala907=)
c.-73C>T (n.-73C>T)
c.2529C>T (p.Ala843=)
1g.209618640G>CCA423030198LAMB3c.2721C>G (p.Ala907=)
c.-73C>G (n.-73C>G)
c.2529C>G (p.Ala843=)
1g.209618640G>TCA423030199LAMB3c.2721C>A (p.Ala907=)
c.-73C>A (n.-73C>A)
c.2529C>A (p.Ala843=)
1g.209618641G>ACA344585331LAMB3c.2720C>T (p.Ala907Val)
c.-74C>T (n.-74C>T)
c.2528C>T (p.Ala843Val)
 COSMIC
1g.209618641G>CCA1375111LAMB3c.2720C>G (p.Ala907Gly)
c.-74C>G (n.-74C>G)
c.2528C>G (p.Ala843Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618641G=CA1148454175LAMB3c.2720C= (p.Ala907=)
c.-74C= (n.-74C=)
c.2528C= (p.Ala843=)
1g.209618641G>TCA1375110LAMB3c.2720C>A (p.Ala907Asp)
c.-74C>A (n.-74C>A)
c.2528C>A (p.Ala843Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209618642C>ACA344585332LAMB3c.2719G>T (p.Ala907Ser)
c.-75G>T (n.-75G>T)
c.2527G>T (p.Ala843Ser)
1g.209618642C>GCA344585333LAMB3c.2719G>C (p.Ala907Pro)
c.-75G>C (n.-75G>C)
c.2527G>C (p.Ala843Pro)
1g.209618642C>TCA344585334LAMB3c.2719G>A (p.Ala907Thr)
c.-75G>A (n.-75G>A)
c.2527G>A (p.Ala843Thr)
1g.209618643T>ACA423030204LAMB3c.2718A>T (p.Ala906=)
c.-76A>T (n.-76A>T)
c.2526A>T (p.Ala842=)
1g.209618643T>CCA423030203LAMB3c.2718A>G (p.Ala906=)
c.-76A>G (n.-76A>G)
c.2526A>G (p.Ala842=)
1g.209618643T>GCA423030201LAMB3c.2718A>C (p.Ala906=)
c.-76A>C (n.-76A>C)
c.2526A>C (p.Ala842=)
1g.209618644G>ACA344585335LAMB3c.2717C>T (p.Ala906Val)
c.-77C>T (n.-77C>T)
c.2525C>T (p.Ala842Val)
 dbSNP gnomAD v2 gnomAD v4
1g.209618644G>CCA344585336LAMB3c.2717C>G (p.Ala906Gly)
c.-77C>G (n.-77C>G)
c.2525C>G (p.Ala842Gly)
1g.209618644G=CA2484296321LAMB3c.2717C= (p.Ala906=)
c.-77C= (n.-77C=)
c.2525C= (p.Ala842=)
1g.209618644G>TCA344585337LAMB3c.2717C>A (p.Ala906Glu)
c.-77C>A (n.-77C>A)
c.2525C>A (p.Ala842Glu)
1g.209618645C>ACA344585338LAMB3c.2716G>T (p.Ala906Ser)
c.-78G>T (n.-78G>T)
c.2524G>T (p.Ala842Ser)
1g.209618645C>GCA344585339LAMB3c.2716G>C (p.Ala906Pro)
c.-78G>C (n.-78G>C)
c.2524G>C (p.Ala842Pro)
1g.209618645C>TCA344585340LAMB3c.2716G>A (p.Ala906Thr)
c.-78G>A (n.-78G>A)
c.2524G>A (p.Ala842Thr)
1g.209618646A>CCA344585341LAMB3c.2715T>G (p.Asp905Glu)
c.-79T>G (n.-79T>G)
c.2523T>G (p.Asp841Glu)
1g.209618646A>GCA423030206LAMB3c.2715T>C (p.Asp905=)
c.-79T>C (n.-79T>C)
c.2523T>C (p.Asp841=)
 gnomAD v4
1g.209618646A>TCA344585342LAMB3c.2715T>A (p.Asp905Glu)
c.-79T>A (n.-79T>A)
c.2523T>A (p.Asp841Glu)
1g.209618647T>ACA344585345LAMB3c.2714A>T (p.Asp905Val)
c.-80A>T (n.-80A>T)
c.2522A>T (p.Asp841Val)
1g.209618647T>CCA344585344LAMB3c.2714A>G (p.Asp905Gly)
c.-80A>G (n.-80A>G)
c.2522A>G (p.Asp841Gly)
1g.209618647T>GCA344585343LAMB3c.2714A>C (p.Asp905Ala)
c.-80A>C (n.-80A>C)
c.2522A>C (p.Asp841Ala)
1g.209618648C>ACA344585346LAMB3c.2713G>T (p.Asp905Tyr)
c.-81G>T (n.-81G>T)
c.2521G>T (p.Asp841Tyr)
1g.209618648C>GCA344585347LAMB3c.2713G>C (p.Asp905His)
c.-81G>C (n.-81G>C)
c.2521G>C (p.Asp841His)
1g.209618648C>TCA344585348LAMB3c.2713G>A (p.Asp905Asn)
c.-81G>A (n.-81G>A)
c.2521G>A (p.Asp841Asn)
1g.209618649A>CCA423030207LAMB3c.2712T>G (p.Thr904=)
c.-82T>G (n.-82T>G)
c.2520T>G (p.Thr840=)
1g.209618649A>GCA423030208LAMB3c.2712T>C (p.Thr904=)
c.-82T>C (n.-82T>C)
c.2520T>C (p.Thr840=)
1g.209618649A>TCA423030209LAMB3c.2712T>A (p.Thr904=)
c.-82T>A (n.-82T>A)
c.2520T>A (p.Thr840=)
1g.209618649dupCA2740090489LAMB3c.2712dup (p.Asp905Ter)
c.-82dup (n.-82dup)
c.2520dup (p.Asp841Ter)
 ClinVar
1g.209618650G>ACA344585349LAMB3c.2711C>T (p.Thr904Ile)
c.-83C>T (n.-83C>T)
c.2519C>T (p.Thr840Ile)
1g.209618650G>CCA344585350LAMB3c.2711C>G (p.Thr904Ser)
c.-83C>G (n.-83C>G)
c.2519C>G (p.Thr840Ser)
1g.209618650G=CA2484296322LAMB3c.2711C= (p.Thr904=)
c.-83C= (n.-83C=)
c.2519C= (p.Thr840=)
1g.209618650G>TCA36750269LAMB3c.2711C>A (p.Thr904Asn)
c.-83C>A (n.-83C>A)
c.2519C>A (p.Thr840Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209618651T>ACA344585351LAMB3c.2710A>T (p.Thr904Ser)
c.-84A>T (n.-84A>T)
c.2518A>T (p.Thr840Ser)
1g.209618651T>CCA344585352LAMB3c.2710A>G (p.Thr904Ala)
c.-84A>G (n.-84A>G)
c.2518A>G (p.Thr840Ala)
1g.209618651T>GCA344585353LAMB3c.2710A>C (p.Thr904Pro)
c.-84A>C (n.-84A>C)
c.2518A>C (p.Thr840Pro)
1g.209618652G>ACA423030210LAMB3c.2709C>T (p.Asp903=)
c.-85C>T (n.-85C>T)
c.2517C>T (p.Asp839=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209618652G>CCA344585354LAMB3c.2709C>G (p.Asp903Glu)
c.-85C>G (n.-85C>G)
c.2517C>G (p.Asp839Glu)
1g.209618652G=CA2484296323LAMB3c.2709C= (p.Asp903=)
c.-85C= (n.-85C=)
c.2517C= (p.Asp839=)
1g.209618652G>TCA344585355LAMB3c.2709C>A (p.Asp903Glu)
c.-85C>A (n.-85C>A)
c.2517C>A (p.Asp839Glu)
 gnomAD v4
1g.209618653T>ACA344585358LAMB3c.2708A>T (p.Asp903Val)
c.-86A>T (n.-86A>T)
c.2516A>T (p.Asp839Val)
1g.209618653T>CCA344585357LAMB3c.2708A>G (p.Asp903Gly)
c.-86A>G (n.-86A>G)
c.2516A>G (p.Asp839Gly)
1g.209618653T>GCA344585356LAMB3c.2708A>C (p.Asp903Ala)
c.-86A>C (n.-86A>C)
c.2516A>C (p.Asp839Ala)
1g.209618654C>ACA344585359LAMB3c.2707G>T (p.Asp903Tyr)
c.-87G>T (n.-87G>T)
c.2515G>T (p.Asp839Tyr)
1g.209618654C=CA2484296324LAMB3c.2707G= (p.Asp903=)
c.-87G= (n.-87G=)
c.2515G= (p.Asp839=)
1g.209618654C>GCA344585360LAMB3c.2707G>C (p.Asp903His)
c.-87G>C (n.-87G>C)
c.2515G>C (p.Asp839His)
1g.209618654C>TCA36750270LAMB3c.2707G>A (p.Asp903Asn)
c.-87G>A (n.-87G>A)
c.2515G>A (p.Asp839Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209618655G>ACA1375112LAMB3c.2706C>T (p.Pro902=)
c.-88C>T (n.-88C>T)
c.2514C>T (p.Pro838=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618655G>CCA423030211LAMB3c.2706C>G (p.Pro902=)
c.-88C>G (n.-88C>G)
c.2514C>G (p.Pro838=)
1g.209618655G=CA2484296325LAMB3c.2706C= (p.Pro902=)
c.-88C= (n.-88C=)
c.2514C= (p.Pro838=)
1g.209618655G>TCA423030212LAMB3c.2706C>A (p.Pro902=)
c.-88C>A (n.-88C>A)
c.2514C>A (p.Pro838=)
 dbSNP
1g.209618658dupCA2580061995LAMB3c.2706dup (p.Asp903ArgfsTer3)
c.-88dup (n.-88dup)
c.2514dup (p.Asp839ArgfsTer3)
 ClinVar
1g.209618658delCA529000173LAMB3c.2706del (p.Asp903ThrfsTer?)
c.-88del (n.-88del)
c.2514del (p.Asp839ThrfsTer?)
 gnomAD v2 gnomAD v4
1g.209618656G>ACA344585361LAMB3c.2705C>T (p.Pro902Leu)
c.-89C>T (n.-89C>T)
c.2513C>T (p.Pro838Leu)
1g.209618656G>CCA344585362LAMB3c.2705C>G (p.Pro902Arg)
c.-89C>G (n.-89C>G)
c.2513C>G (p.Pro838Arg)
1g.209618656G>TCA344585363LAMB3c.2705C>A (p.Pro902His)
c.-89C>A (n.-89C>A)
c.2513C>A (p.Pro838His)
1g.209618657G>ACA344585364LAMB3c.2704C>T (p.Pro902Ser)
c.-90C>T (n.-90C>T)
c.2512C>T (p.Pro838Ser)
 dbSNP
1g.209618657G>CCA344585365LAMB3c.2704C>G (p.Pro902Ala)
c.-90C>G (n.-90C>G)
c.2512C>G (p.Pro838Ala)
1g.209618657G=CA2484296326LAMB3c.2704C= (p.Pro902=)
c.-90C= (n.-90C=)
c.2512C= (p.Pro838=)
1g.209618657G>TCA344585366LAMB3c.2704C>A (p.Pro902Thr)
c.-90C>A (n.-90C>A)
c.2512C>A (p.Pro838Thr)
1g.209618658G>ACA423030214LAMB3c.2703C>T (p.Asp901=)
c.-91C>T (n.-91C>T)
c.2511C>T (p.Asp837=)
 ClinVar dbSNP gnomAD v4
1g.209618658G>CCA344585367LAMB3c.2703C>G (p.Asp901Glu)
c.-91C>G (n.-91C>G)
c.2511C>G (p.Asp837Glu)
 gnomAD v4
1g.209618658G=CA2484296327LAMB3c.2703C= (p.Asp901=)
c.-91C= (n.-91C=)
c.2511C= (p.Asp837=)
1g.209618658G>TCA344585368LAMB3c.2703C>A (p.Asp901Glu)
c.-91C>A (n.-91C>A)
c.2511C>A (p.Asp837Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.209618659T>ACA344585371LAMB3c.2702A>T (p.Asp901Val)
c.-92A>T (n.-92A>T)
c.2510A>T (p.Asp837Val)
1g.209618659T>CCA344585369LAMB3c.2702A>G (p.Asp901Gly)
c.-92A>G (n.-92A>G)
c.2510A>G (p.Asp837Gly)
1g.209618659T>GCA344585370LAMB3c.2702A>C (p.Asp901Ala)
c.-92A>C (n.-92A>C)
c.2510A>C (p.Asp837Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.209618659T=CA2484296328LAMB3c.2702A= (p.Asp901=)
c.-92A= (n.-92A=)
c.2510A= (p.Asp837=)
1g.209618660C>ACA344585372LAMB3c.2702-1G>T (n.2702-1G>T)
c.-93G>T (n.-93G>T)
c.2510-1G>T (n.2510-1G>T)
1g.209618660C>GCA344585373LAMB3c.2702-1G>C (n.2702-1G>C)
c.-93G>C (n.-93G>C)
c.2510-1G>C (n.2510-1G>C)
1g.209618660C>TCA344585374LAMB3c.2702-1G>A (n.2702-1G>A)
c.-93G>A (n.-93G>A)
c.2510-1G>A (n.2510-1G>A)
1g.209618661T>ACA344585375LAMB3c.2702-2A>T (n.2702-2A>T)
c.-94A>T (n.-94A>T)
c.2510-2A>T (n.2510-2A>T)
1g.209618661T>CCA344585376LAMB3c.2702-2A>G (n.2702-2A>G)
c.-94A>G (n.-94A>G)
c.2510-2A>G (n.2510-2A>G)
1g.209618661T>GCA344585377LAMB3c.2702-2A>C (n.2702-2A>C)
c.-94A>C (n.-94A>C)
c.2510-2A>C (n.2510-2A>C)
1g.209618662G>ACA2650320629LAMB3c.2702-3C>T (n.2702-3C>T)
c.-95C>T (n.-95C>T)
c.2510-3C>T (n.2510-3C>T)
 gnomAD v4
1g.209618662_209618663insTTAGGAAGTCCCGGACCTGCTGGATCAGGAGCCGTCA2697962407LAMB3c.2702-4_2702-3insACGGCTCCTGATCCAGCAGGTCCGGGACTTCCTAA (n.2702-4_2702-3insACGGCTCCTGATCCAGCAGGTCCGGGACTTCCTAA)
c.-96_-95insACGGCTCCTGATCCAGCAGGTCCGGGACTTCCTAA (n.-96_-95insACGGCTCCTGATCCAGCAGGTCCGGGACTTCCTAA)
c.2510-4_2510-3insACGGCTCCTGATCCAGCAGGTCCGGGACTTCCTAA (n.2510-4_2510-3insACGGCTCCTGATCCAGCAGGTCCGGGACTTCCTAA)
 dbSNP
1g.209618663G>ACA2573130645LAMB3c.2702-4C>T (n.2702-4C>T)
c.-96C>T (n.-96C>T)
c.2510-4C>T (n.2510-4C>T)
 ClinVar dbSNP
1g.209618665A=CA2484296329LAMB3c.2702-6T= (n.2702-6T=)
c.-98T= (n.-98T=)
c.2510-6T= (n.2510-6T=)
1g.209618665A>CCA529000174LAMB3c.2702-6T>G (n.2702-6T>G)
c.-98T>G (n.-98T>G)
c.2510-6T>G (n.2510-6T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209618666G>CCA2739275572LAMB3c.2702-7C>G (n.2702-7C>G)
c.-99C>G (n.-99C>G)
c.2510-7C>G (n.2510-7C>G)
 ClinVar
1g.209618667A=CA2484296330LAMB3c.2702-8T= (n.2702-8T=)
c.-100T= (n.-100T=)
c.2510-8T= (n.2510-8T=)
1g.209618668C>ACA36750271LAMB3c.2702-9G>T (n.2702-9G>T)
c.-101G>T (n.-101G>T)
c.2510-9G>T (n.2510-9G>T)
 dbSNP
1g.209618668C=CA1143891267LAMB3c.2702-9G= (n.2702-9G=)
c.-101G= (n.-101G=)
c.2510-9G= (n.2510-9G=)
1g.209618668C>TCA529000175LAMB3c.2702-9G>A (n.2702-9G>A)
c.-101G>A (n.-101G>A)
c.2510-9G>A (n.2510-9G>A)
 dbSNP gnomAD v2
1g.209618668dupCA1375113LAMB3c.2702-9dup (n.2702-9dup)
c.-101dup (n.-101dup)
c.2510-9dup (n.2510-9dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618670dupCA36750275LAMB3c.2702-10dup (n.2702-10dup)
c.-102dup (n.-102dup)
c.2510-10dup (n.2510-10dup)
 dbSNP gnomAD v4

Number of alleles fetched