Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209618470_209618497delCA913072623LAMB3c.2864_2891del (p.Asp955ValfsTer?)
c.71_98del (p.Asp24ValfsTer?)
c.2672_2699del (p.Asp891ValfsTer?)
1g.209618470_209618497delinsGCCTGCAACCGGCGGGCACGCGCAATGTCA2484296265LAMB3c.2864_2891delinsACATTGCGCGTGCCCGCCGGTTGCAGGC (p.Asp955=)
c.71_98delinsACATTGCGCGTGCCCGCCGGTTGCAGGC (p.Asp24=)
c.2672_2699delinsACATTGCGCGTGCCCGCCGGTTGCAGGC (p.Asp891=)
1g.209618471_209618502delinsCCTGCAACCGGCGGGCACGCGCAATGTCCTGCCA1148245821LAMB3c.2859_2890delinsGCAGGACATTGCGCGTGCCCGCCGGTTGCAGG (p.Lys953=)
c.66_97delinsGCAGGACATTGCGCGTGCCCGCCGGTTGCAGG (p.Lys22=)
c.2667_2698delinsGCAGGACATTGCGCGTGCCCGCCGGTTGCAGG (p.Lys889=)
1g.209618476_209618502delCA1375069LAMB3c.2864_2890del (p.Asp955_Gln963del)
c.71_97del (p.Asp24_Gln32del)
c.2672_2698del (p.Asp891_Gln899del)
 ClinVar dbSNP ExAC gnomAD v2
1g.209618479C>ACA344585008LAMB3c.2882G>T (p.Arg961Leu)
c.89G>T (p.Arg30Leu)
c.2690G>T (p.Arg897Leu)
1g.209618479C=CA1144706481LAMB3c.2882G= (p.Arg961=)
c.89G= (p.Arg30=)
c.2690G= (p.Arg897=)
1g.209618479C>GCA344585009LAMB3c.2882G>C (p.Arg961Pro)
c.89G>C (p.Arg30Pro)
c.2690G>C (p.Arg897Pro)
1g.209618479C>TCA1375070LAMB3c.2882G>A (p.Arg961Gln)
c.89G>A (p.Arg30Gln)
c.2690G>A (p.Arg897Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209618480G>ACA1375071LAMB3c.2881C>T (p.Arg961Trp)
c.88C>T (p.Arg30Trp)
c.2689C>T (p.Arg897Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618480G>CCA344585010LAMB3c.2881C>G (p.Arg961Gly)
c.88C>G (p.Arg30Gly)
c.2689C>G (p.Arg897Gly)
 dbSNP
1g.209618480G=CA1141086049LAMB3c.2881C= (p.Arg961=)
c.88C= (p.Arg30=)
c.2689C= (p.Arg897=)
1g.209618480G>TCA423029942LAMB3c.2881C>A (p.Arg961=)
c.88C>A (p.Arg30=)
c.2689C>A (p.Arg897=)
1g.209618481G>ACA423029947LAMB3c.2880C>T (p.Arg960=)
c.87C>T (p.Arg29=)
c.2688C>T (p.Arg896=)
1g.209618481G>CCA423029944LAMB3c.2880C>G (p.Arg960=)
c.87C>G (p.Arg29=)
c.2688C>G (p.Arg896=)
1g.209618481G>TCA423029946LAMB3c.2880C>A (p.Arg960=)
c.87C>A (p.Arg29=)
c.2688C>A (p.Arg896=)
1g.209618482C>ACA344585011LAMB3c.2879G>T (p.Arg960Leu)
c.86G>T (p.Arg29Leu)
c.2687G>T (p.Arg896Leu)
1g.209618482C=CA1141833429LAMB3c.2879G= (p.Arg960=)
c.86G= (p.Arg29=)
c.2687G= (p.Arg896=)
1g.209618482C>GCA344585012LAMB3c.2879G>C (p.Arg960Pro)
c.86G>C (p.Arg29Pro)
c.2687G>C (p.Arg896Pro)
1g.209618482C>TCA1375072LAMB3c.2879G>A (p.Arg960His)
c.86G>A (p.Arg29His)
c.2687G>A (p.Arg896His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618483G>ACA1375073LAMB3c.2878C>T (p.Arg960Cys)
c.85C>T (p.Arg29Cys)
c.2686C>T (p.Arg896Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618483G>CCA344585013LAMB3c.2878C>G (p.Arg960Gly)
c.85C>G (p.Arg29Gly)
c.2686C>G (p.Arg896Gly)
1g.209618483G=CA1142120403LAMB3c.2878C= (p.Arg960=)
c.85C= (p.Arg29=)
c.2686C= (p.Arg896=)
1g.209618483G>TCA344585014LAMB3c.2878C>A (p.Arg960Ser)
c.85C>A (p.Arg29Ser)
c.2686C>A (p.Arg896Ser)
1g.209618485delCA2650320626LAMB3c.2878del (p.Arg960AlafsTer?)
c.85del (p.Arg29AlafsTer?)
c.2686del (p.Arg896AlafsTer?)
 gnomAD v4
1g.209618484G>ACA1375074LAMB3c.2877C>T (p.Ala959=)
c.84C>T (p.Ala28=)
c.2685C>T (p.Ala895=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209618484G>CCA423029948LAMB3c.2877C>G (p.Ala959=)
c.84C>G (p.Ala28=)
c.2685C>G (p.Ala895=)
1g.209618484G=CA2484296268LAMB3c.2877C= (p.Ala959=)
c.84C= (p.Ala28=)
c.2685C= (p.Ala895=)
1g.209618484G>TCA423029949LAMB3c.2877C>A (p.Ala959=)
c.84C>A (p.Ala28=)
c.2685C>A (p.Ala895=)
1g.209618485G>ACA344585015LAMB3c.2876C>T (p.Ala959Val)
c.83C>T (p.Ala28Val)
c.2684C>T (p.Ala895Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209618485G>CCA344585016LAMB3c.2876C>G (p.Ala959Gly)
c.83C>G (p.Ala28Gly)
c.2684C>G (p.Ala895Gly)
1g.209618485G=CA2484296269LAMB3c.2876C= (p.Ala959=)
c.83C= (p.Ala28=)
c.2684C= (p.Ala895=)
1g.209618485G>TCA344585017LAMB3c.2876C>A (p.Ala959Asp)
c.83C>A (p.Ala28Asp)
c.2684C>A (p.Ala895Asp)
 dbSNP gnomAD v4
1g.209618486C>ACA344585018LAMB3c.2875G>T (p.Ala959Ser)
c.82G>T (p.Ala28Ser)
c.2683G>T (p.Ala895Ser)
1g.209618486C>GCA344585019LAMB3c.2875G>C (p.Ala959Pro)
c.82G>C (p.Ala28Pro)
c.2683G>C (p.Ala895Pro)
1g.209618486C>TCA344585020LAMB3c.2875G>A (p.Ala959Thr)
c.82G>A (p.Ala28Thr)
c.2683G>A (p.Ala895Thr)
1g.209618487A>CCA423029955LAMB3c.2874T>G (p.Arg958=)
c.81T>G (p.Arg27=)
c.2682T>G (p.Arg894=)
1g.209618487A>GCA423029956LAMB3c.2874T>C (p.Arg958=)
c.81T>C (p.Arg27=)
c.2682T>C (p.Arg894=)
1g.209618487A>TCA423029957LAMB3c.2874T>A (p.Arg958=)
c.81T>A (p.Arg27=)
c.2682T>A (p.Arg894=)
1g.209618488C>ACA1375076LAMB3c.2873G>T (p.Arg958Leu)
c.80G>T (p.Arg27Leu)
c.2681G>T (p.Arg894Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618488C=CA1141901668LAMB3c.2873G= (p.Arg958=)
c.80G= (p.Arg27=)
c.2681G= (p.Arg894=)
1g.209618488C>GCA344585021LAMB3c.2873G>C (p.Arg958Pro)
c.80G>C (p.Arg27Pro)
c.2681G>C (p.Arg894Pro)
1g.209618488C>TCA1375075LAMB3c.2873G>A (p.Arg958His)
c.80G>A (p.Arg27His)
c.2681G>A (p.Arg894His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618489delCA2499214416LAMB3c.2872del (p.Arg958ValfsTer?)
c.79del (p.Arg27ValfsTer?)
c.2680del (p.Arg894ValfsTer?)
 ClinVar dbSNP
1g.209618489G>ACA1375077LAMB3c.2872C>T (p.Arg958Cys)
c.79C>T (p.Arg27Cys)
c.2680C>T (p.Arg894Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209618489G>CCA344585022LAMB3c.2872C>G (p.Arg958Gly)
c.79C>G (p.Arg27Gly)
c.2680C>G (p.Arg894Gly)
1g.209618489G=CA1144210239LAMB3c.2872C= (p.Arg958=)
c.79C= (p.Arg27=)
c.2680C= (p.Arg894=)
1g.209618489G>TCA344585023LAMB3c.2872C>A (p.Arg958Ser)
c.79C>A (p.Arg27Ser)
c.2680C>A (p.Arg894Ser)
1g.209618490C>ACA423029961LAMB3c.2871G>T (p.Ala957=)
c.78G>T (p.Ala26=)
c.2679G>T (p.Ala893=)
1g.209618490C=CA1141913003LAMB3c.2871G= (p.Ala957=)
c.78G= (p.Ala26=)
c.2679G= (p.Ala893=)
1g.209618490C>GCA36750139LAMB3c.2871G>C (p.Ala957=)
c.78G>C (p.Ala26=)
c.2679G>C (p.Ala893=)
 ClinVar dbSNP gnomAD v4
1g.209618490C>TCA1375078LAMB3c.2871G>A (p.Ala957=)
c.78G>A (p.Ala26=)
c.2679G>A (p.Ala893=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209618491G>ACA1375079LAMB3c.2870C>T (p.Ala957Val)
c.77C>T (p.Ala26Val)
c.2678C>T (p.Ala893Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618491G>CCA344585024LAMB3c.2870C>G (p.Ala957Gly)
c.77C>G (p.Ala26Gly)
c.2678C>G (p.Ala893Gly)
1g.209618491G=CA1142313785LAMB3c.2870C= (p.Ala957=)
c.77C= (p.Ala26=)
c.2678C= (p.Ala893=)
1g.209618491G>TCA344585025LAMB3c.2870C>A (p.Ala957Glu)
c.77C>A (p.Ala26Glu)
c.2678C>A (p.Ala893Glu)
 gnomAD v4
1g.209618492C>ACA344585026LAMB3c.2869G>T (p.Ala957Ser)
c.76G>T (p.Ala26Ser)
c.2677G>T (p.Ala893Ser)
1g.209618492C=CA2484296270LAMB3c.2869G= (p.Ala957=)
c.76G= (p.Ala26=)
c.2677G= (p.Ala893=)
1g.209618492C>GCA344585027LAMB3c.2869G>C (p.Ala957Pro)
c.76G>C (p.Ala26Pro)
c.2677G>C (p.Ala893Pro)
1g.209618492C>TCA36750140LAMB3c.2869G>A (p.Ala957Thr)
c.76G>A (p.Ala26Thr)
c.2677G>A (p.Ala893Thr)
 dbSNP COSMIC
1g.209618493A=CA2484296271LAMB3c.2868T= (p.Ile956=)
c.75T= (p.Ile25=)
c.2676T= (p.Ile892=)
1g.209618493A>CCA344585028LAMB3c.2868T>G (p.Ile956Met)
c.75T>G (p.Ile25Met)
c.2676T>G (p.Ile892Met)
 dbSNP gnomAD v3 gnomAD v4
1g.209618493A>GCA423029969LAMB3c.2868T>C (p.Ile956=)
c.75T>C (p.Ile25=)
c.2676T>C (p.Ile892=)
1g.209618493A>TCA423029970LAMB3c.2868T>A (p.Ile956=)
c.75T>A (p.Ile25=)
c.2676T>A (p.Ile892=)
1g.209618494A>CCA344585031LAMB3c.2867T>G (p.Ile956Ser)
c.74T>G (p.Ile25Ser)
c.2675T>G (p.Ile892Ser)
1g.209618494A>GCA344585029LAMB3c.2867T>C (p.Ile956Thr)
c.74T>C (p.Ile25Thr)
c.2675T>C (p.Ile892Thr)
1g.209618494A>TCA344585030LAMB3c.2867T>A (p.Ile956Asn)
c.74T>A (p.Ile25Asn)
c.2675T>A (p.Ile892Asn)
1g.209618494_209618495delinsATCA2484296272LAMB3c.2866_2867delinsAT (p.Ile956=)
c.73_74delinsAT (p.Ile25=)
c.2674_2675delinsAT (p.Ile892=)
1g.209618495delCA730847062LAMB3c.2866del (p.Ile956LeufsTer?)
c.73del (p.Ile25LeufsTer?)
c.2674del (p.Ile892LeufsTer?)
 dbSNP gnomAD v3 gnomAD v4
1g.209618495T>ACA344585032LAMB3c.2866A>T (p.Ile956Phe)
c.73A>T (p.Ile25Phe)
c.2674A>T (p.Ile892Phe)
1g.209618495T>CCA344585033LAMB3c.2866A>G (p.Ile956Val)
c.73A>G (p.Ile25Val)
c.2674A>G (p.Ile892Val)
1g.209618495T>GCA344585034LAMB3c.2866A>C (p.Ile956Leu)
c.73A>C (p.Ile25Leu)
c.2674A>C (p.Ile892Leu)
1g.209618496G>ACA423029975LAMB3c.2865C>T (p.Asp955=)
c.72C>T (p.Asp24=)
c.2673C>T (p.Asp891=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209618496G>CCA344585035LAMB3c.2865C>G (p.Asp955Glu)
c.72C>G (p.Asp24Glu)
c.2673C>G (p.Asp891Glu)
1g.209618496G=CA2484296273LAMB3c.2865C= (p.Asp955=)
c.72C= (p.Asp24=)
c.2673C= (p.Asp891=)
1g.209618496G>TCA344585036LAMB3c.2865C>A (p.Asp955Glu)
c.72C>A (p.Asp24Glu)
c.2673C>A (p.Asp891Glu)
1g.209618497T>ACA36750142LAMB3c.2864A>T (p.Asp955Val)
c.71A>T (p.Asp24Val)
c.2672A>T (p.Asp891Val)
 dbSNP
1g.209618497T>CCA344585037LAMB3c.2864A>G (p.Asp955Gly)
c.71A>G (p.Asp24Gly)
c.2672A>G (p.Asp891Gly)
1g.209618497T>GCA344585038LAMB3c.2864A>C (p.Asp955Ala)
c.71A>C (p.Asp24Ala)
c.2672A>C (p.Asp891Ala)
1g.209618497T=CA1143369063LAMB3c.2864A= (p.Asp955=)
c.71A= (p.Asp24=)
c.2672A= (p.Asp891=)
1g.209618498C>ACA344585039LAMB3c.2863G>T (p.Asp955Tyr)
c.70G>T (p.Asp24Tyr)
c.2671G>T (p.Asp891Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209618498C=CA2484296274LAMB3c.2863G= (p.Asp955=)
c.70G= (p.Asp24=)
c.2671G= (p.Asp891=)
1g.209618498C>GCA344585040LAMB3c.2863G>C (p.Asp955His)
c.70G>C (p.Asp24His)
c.2671G>C (p.Asp891His)
1g.209618498C>TCA36750146LAMB3c.2863G>A (p.Asp955Asn)
c.70G>A (p.Asp24Asn)
c.2671G>A (p.Asp891Asn)
 dbSNP
1g.209618499C>ACA344585042LAMB3c.2862G>T (p.Gln954His)
c.69G>T (p.Gln23His)
c.2670G>T (p.Gln890His)
 gnomAD v4
1g.209618499C>GCA344585041LAMB3c.2862G>C (p.Gln954His)
c.69G>C (p.Gln23His)
c.2670G>C (p.Gln890His)
 gnomAD v4
1g.209618499C>TCA423029977LAMB3c.2862G>A (p.Gln954=)
c.69G>A (p.Gln23=)
c.2670G>A (p.Gln890=)
1g.209618499_209618500delinsCTCA2484296275LAMB3c.2861_2862delinsAG (p.Gln954=)
c.68_69delinsAG (p.Gln23=)
c.2669_2670delinsAG (p.Gln890=)
1g.209618500delCA36750149LAMB3c.2861del (p.Gln954ArgfsTer?)
c.68del (p.Gln23ArgfsTer?)
c.2669del (p.Gln890ArgfsTer?)
 dbSNP gnomAD v4
1g.209618500T>ACA344585043LAMB3c.2861A>T (p.Gln954Leu)
c.68A>T (p.Gln23Leu)
c.2669A>T (p.Gln890Leu)
1g.209618500T>CCA344585044LAMB3c.2861A>G (p.Gln954Arg)
c.68A>G (p.Gln23Arg)
c.2669A>G (p.Gln890Arg)
1g.209618500T>GCA344585045LAMB3c.2861A>C (p.Gln954Pro)
c.68A>C (p.Gln23Pro)
c.2669A>C (p.Gln890Pro)
1g.209618501G>ACA344585046LAMB3c.2860C>T (p.Gln954Ter)
c.67C>T (p.Gln23Ter)
c.2668C>T (p.Gln890Ter)
 gnomAD v4
1g.209618501G>CCA344585047LAMB3c.2860C>G (p.Gln954Glu)
c.67C>G (p.Gln23Glu)
c.2668C>G (p.Gln890Glu)
 gnomAD v4
1g.209618501G>TCA344585048LAMB3c.2860C>A (p.Gln954Lys)
c.67C>A (p.Gln23Lys)
c.2668C>A (p.Gln890Lys)
1g.209618502C>ACA344585049LAMB3c.2859G>T (p.Lys953Asn)
c.66G>T (p.Lys22Asn)
c.2667G>T (p.Lys889Asn)
1g.209618502C>GCA344585050LAMB3c.2859G>C (p.Lys953Asn)
c.66G>C (p.Lys22Asn)
c.2667G>C (p.Lys889Asn)
1g.209618502C>TCA423029983LAMB3c.2859G>A (p.Lys953=)
c.66G>A (p.Lys22=)
c.2667G>A (p.Lys889=)
1g.209618503T>ACA344585051LAMB3c.2858A>T (p.Lys953Met)
c.65A>T (p.Lys22Met)
c.2666A>T (p.Lys889Met)
1g.209618503T>CCA344585052LAMB3c.2858A>G (p.Lys953Arg)
c.65A>G (p.Lys22Arg)
c.2666A>G (p.Lys889Arg)
1g.209618503T>GCA344585053LAMB3c.2858A>C (p.Lys953Thr)
c.65A>C (p.Lys22Thr)
c.2666A>C (p.Lys889Thr)
1g.209618504T>ACA344585054LAMB3c.2857A>T (p.Lys953Ter)
c.64A>T (p.Lys22Ter)
c.2665A>T (p.Lys889Ter)
1g.209618504T>CCA344585055LAMB3c.2857A>G (p.Lys953Glu)
c.64A>G (p.Lys22Glu)
c.2665A>G (p.Lys889Glu)
1g.209618504T>GCA344585056LAMB3c.2857A>C (p.Lys953Gln)
c.64A>C (p.Lys22Gln)
c.2665A>C (p.Lys889Gln)
1g.209618505G>ACA423029987LAMB3c.2856C>T (p.Thr952=)
c.63C>T (p.Thr21=)
c.2664C>T (p.Thr888=)
1g.209618505G>CCA423029989LAMB3c.2856C>G (p.Thr952=)
c.63C>G (p.Thr21=)
c.2664C>G (p.Thr888=)
1g.209618505G>TCA423029992LAMB3c.2856C>A (p.Thr952=)
c.63C>A (p.Thr21=)
c.2664C>A (p.Thr888=)
 gnomAD v4
1g.209618505_209618506delinsAACA645532773LAMB3c.2855_2856delinsTT (p.Thr952Ile)
c.62_63delinsTT (p.Thr21Ile)
c.2663_2664delinsTT (p.Thr888Ile)
 COSMIC
1g.209618506G>ACA344585058LAMB3c.2855C>T (p.Thr952Ile)
c.62C>T (p.Thr21Ile)
c.2663C>T (p.Thr888Ile)
1g.209618506G>CCA344585057LAMB3c.2855C>G (p.Thr952Ser)
c.62C>G (p.Thr21Ser)
c.2663C>G (p.Thr888Ser)
 gnomAD v4
1g.209618506G=CA2484296276LAMB3c.2855C= (p.Thr952=)
c.62C= (p.Thr21=)
c.2663C= (p.Thr888=)
1g.209618506G>TCA1375080LAMB3c.2855C>A (p.Thr952Asn)
c.62C>A (p.Thr21Asn)
c.2663C>A (p.Thr888Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209618507T>ACA344585059LAMB3c.2854A>T (p.Thr952Ser)
c.61A>T (p.Thr21Ser)
c.2662A>T (p.Thr888Ser)
1g.209618507T>CCA344585060LAMB3c.2854A>G (p.Thr952Ala)
c.61A>G (p.Thr21Ala)
c.2662A>G (p.Thr888Ala)
 dbSNP
1g.209618507T>GCA344585061LAMB3c.2854A>C (p.Thr952Pro)
c.61A>C (p.Thr21Pro)
c.2662A>C (p.Thr888Pro)
 dbSNP gnomAD v4
1g.209618507T=CA2484296277LAMB3c.2854A= (p.Thr952=)
c.61A= (p.Thr21=)
c.2662A= (p.Thr888=)
1g.209618508C>ACA344585062LAMB3c.2853G>T (p.Gln951His)
c.60G>T (p.Gln20His)
c.2661G>T (p.Gln887His)
1g.209618508C>GCA344585063LAMB3c.2853G>C (p.Gln951His)
c.60G>C (p.Gln20His)
c.2661G>C (p.Gln887His)
1g.209618508C>TCA423029999LAMB3c.2853G>A (p.Gln951=)
c.60G>A (p.Gln20=)
c.2661G>A (p.Gln887=)
1g.209618509T>ACA344585064LAMB3c.2852A>T (p.Gln951Leu)
c.59A>T (p.Gln20Leu)
c.2660A>T (p.Gln887Leu)
 dbSNP
1g.209618509T>CCA344585065LAMB3c.2852A>G (p.Gln951Arg)
c.59A>G (p.Gln20Arg)
c.2660A>G (p.Gln887Arg)
1g.209618509T>GCA344585066LAMB3c.2852A>C (p.Gln951Pro)
c.59A>C (p.Gln20Pro)
c.2660A>C (p.Gln887Pro)
1g.209618509T=CA2484296278LAMB3c.2852A= (p.Gln951=)
c.59A= (p.Gln20=)
c.2660A= (p.Gln887=)
1g.209618510G>ACA344585067LAMB3c.2851C>T (p.Gln951Ter)
c.58C>T (p.Gln20Ter)
c.2659C>T (p.Gln887Ter)
1g.209618510G>CCA344585068LAMB3c.2851C>G (p.Gln951Glu)
c.58C>G (p.Gln20Glu)
c.2659C>G (p.Gln887Glu)
1g.209618510G>TCA344585069LAMB3c.2851C>A (p.Gln951Lys)
c.58C>A (p.Gln20Lys)
c.2659C>A (p.Gln887Lys)
1g.209618511G>ACA423030005LAMB3c.2850C>T (p.Ser950=)
c.57C>T (p.Ser19=)
c.2658C>T (p.Ser886=)
1g.209618511G>CCA423030006LAMB3c.2850C>G (p.Ser950=)
c.57C>G (p.Ser19=)
c.2658C>G (p.Ser886=)
1g.209618511G>TCA423030007LAMB3c.2850C>A (p.Ser950=)
c.57C>A (p.Ser19=)
c.2658C>A (p.Ser886=)
1g.209618512G>ACA344585072LAMB3c.2849C>T (p.Ser950Phe)
c.56C>T (p.Ser19Phe)
c.2657C>T (p.Ser886Phe)
1g.209618512G>CCA344585071LAMB3c.2849C>G (p.Ser950Cys)
c.56C>G (p.Ser19Cys)
c.2657C>G (p.Ser886Cys)
 gnomAD v4
1g.209618512G>TCA344585070LAMB3c.2849C>A (p.Ser950Tyr)
c.56C>A (p.Ser19Tyr)
c.2657C>A (p.Ser886Tyr)
1g.209618513A>CCA344585073LAMB3c.2848T>G (p.Ser950Ala)
c.55T>G (p.Ser19Ala)
c.2656T>G (p.Ser886Ala)
1g.209618513A>GCA344585074LAMB3c.2848T>C (p.Ser950Pro)
c.55T>C (p.Ser19Pro)
c.2656T>C (p.Ser886Pro)
1g.209618513A>TCA344585075LAMB3c.2848T>A (p.Ser950Thr)
c.55T>A (p.Ser19Thr)
c.2656T>A (p.Ser886Thr)
1g.209618514C>ACA423030013LAMB3c.2847G>T (p.Leu949=)
c.54G>T (p.Leu18=)
c.2655G>T (p.Leu885=)
1g.209618514C>GCA423030014LAMB3c.2847G>C (p.Leu949=)
c.54G>C (p.Leu18=)
c.2655G>C (p.Leu885=)
1g.209618514C>TCA423030015LAMB3c.2847G>A (p.Leu949=)
c.54G>A (p.Leu18=)
c.2655G>A (p.Leu885=)
1g.209618515A>CCA344585076LAMB3c.2846T>G (p.Leu949Arg)
c.53T>G (p.Leu18Arg)
c.2654T>G (p.Leu885Arg)
1g.209618515A>GCA344585077LAMB3c.2846T>C (p.Leu949Pro)
c.53T>C (p.Leu18Pro)
c.2654T>C (p.Leu885Pro)
 gnomAD v4
1g.209618515A>TCA344585078LAMB3c.2846T>A (p.Leu949Gln)
c.53T>A (p.Leu18Gln)
c.2654T>A (p.Leu885Gln)
1g.209618516G>ACA423030018LAMB3c.2845C>T (p.Leu949=)
c.52C>T (p.Leu18=)
c.2653C>T (p.Leu885=)
 dbSNP gnomAD v2 gnomAD v4
1g.209618516G>CCA344585079LAMB3c.2845C>G (p.Leu949Val)
c.52C>G (p.Leu18Val)
c.2653C>G (p.Leu885Val)
1g.209618516G=CA2484296279LAMB3c.2845C= (p.Leu949=)
c.52C= (p.Leu18=)
c.2653C= (p.Leu885=)
1g.209618516G>TCA344585080LAMB3c.2845C>A (p.Leu949Met)
c.52C>A (p.Leu18Met)
c.2653C>A (p.Leu885Met)
1g.209618517C>ACA423030023LAMB3c.2844G>T (p.Val948=)
c.51G>T (p.Val17=)
c.2652G>T (p.Val884=)
1g.209618517C>GCA423030021LAMB3c.2844G>C (p.Val948=)
c.51G>C (p.Val17=)
c.2652G>C (p.Val884=)
1g.209618517C>TCA423030020LAMB3c.2844G>A (p.Val948=)
c.51G>A (p.Val17=)
c.2652G>A (p.Val884=)
1g.209618518A>CCA344585081LAMB3c.2843T>G (p.Val948Gly)
c.50T>G (p.Val17Gly)
c.2651T>G (p.Val884Gly)
1g.209618518A>GCA344585082LAMB3c.2843T>C (p.Val948Ala)
c.50T>C (p.Val17Ala)
c.2651T>C (p.Val884Ala)
1g.209618518A>TCA344585083LAMB3c.2843T>A (p.Val948Glu)
c.50T>A (p.Val17Glu)
c.2651T>A (p.Val884Glu)
1g.209618518_209618519delinsACCA2484296280LAMB3c.2842_2843delinsGT (p.Val948=)
c.49_50delinsGT (p.Val17=)
c.2650_2651delinsGT (p.Val884=)
1g.209618519C>ACA344585085LAMB3c.2842G>T (p.Val948Leu)
c.49G>T (p.Val17Leu)
c.2650G>T (p.Val884Leu)
1g.209618519C=CA2484296281LAMB3c.2842G= (p.Val948=)
c.49G= (p.Val17=)
c.2650G= (p.Val884=)
1g.209618519C>GCA344585084LAMB3c.2842G>C (p.Val948Leu)
c.49G>C (p.Val17Leu)
c.2650G>C (p.Val884Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.209618519C>TCA344585086LAMB3c.2842G>A (p.Val948Met)
c.49G>A (p.Val17Met)
c.2650G>A (p.Val884Met)
 gnomAD v4
1g.209618520delCA1375081LAMB3c.2842del (p.Val948CysfsTer?)
c.49del (p.Val17CysfsTer?)
c.2650del (p.Val884CysfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618520C>ACA344585087LAMB3c.2841G>T (p.Leu947Phe)
c.48G>T (p.Leu16Phe)
c.2649G>T (p.Leu883Phe)
1g.209618520C=CA1141986146LAMB3c.2841G= (p.Leu947=)
c.48G= (p.Leu16=)
c.2649G= (p.Leu883=)
1g.209618520C>GCA344585088LAMB3c.2841G>C (p.Leu947Phe)
c.48G>C (p.Leu16Phe)
c.2649G>C (p.Leu883Phe)
1g.209618520C>TCA1375082LAMB3c.2841G>A (p.Leu947=)
c.48G>A (p.Leu16=)
c.2649G>A (p.Leu883=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618521A>CCA344585091LAMB3c.2840T>G (p.Leu947Trp)
c.47T>G (p.Leu16Trp)
c.2648T>G (p.Leu883Trp)
1g.209618521A>GCA344585090LAMB3c.2840T>C (p.Leu947Ser)
c.47T>C (p.Leu16Ser)
c.2648T>C (p.Leu883Ser)
 gnomAD v4
1g.209618521A>TCA344585089LAMB3c.2840T>A (p.Leu947Ter)
c.47T>A (p.Leu16Ter)
c.2648T>A (p.Leu883Ter)
1g.209618522A>CCA344585092LAMB3c.2839T>G (p.Leu947Val)
c.46T>G (p.Leu16Val)
c.2647T>G (p.Leu883Val)
1g.209618522A>GCA423030030LAMB3c.2839T>C (p.Leu947=)
c.46T>C (p.Leu16=)
c.2647T>C (p.Leu883=)
1g.209618522A>TCA344585093LAMB3c.2839T>A (p.Leu947Met)
c.46T>A (p.Leu16Met)
c.2647T>A (p.Leu883Met)
1g.209618523G>ACA423030031LAMB3c.2838C>T (p.Asp946=)
c.45C>T (p.Asp15=)
c.2646C>T (p.Asp882=)
1g.209618523G>CCA344585094LAMB3c.2838C>G (p.Asp946Glu)
c.45C>G (p.Asp15Glu)
c.2646C>G (p.Asp882Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.209618523G=CA2484296282LAMB3c.2838C= (p.Asp946=)
c.45C= (p.Asp15=)
c.2646C= (p.Asp882=)
1g.209618523G>TCA344585095LAMB3c.2838C>A (p.Asp946Glu)
c.45C>A (p.Asp15Glu)
c.2646C>A (p.Asp882Glu)
1g.209618524T>ACA344585096LAMB3c.2837A>T (p.Asp946Val)
c.44A>T (p.Asp15Val)
c.2645A>T (p.Asp882Val)
1g.209618524T>CCA344585097LAMB3c.2837A>G (p.Asp946Gly)
c.44A>G (p.Asp15Gly)
c.2645A>G (p.Asp882Gly)
1g.209618524T>GCA344585098LAMB3c.2837A>C (p.Asp946Ala)
c.44A>C (p.Asp15Ala)
c.2645A>C (p.Asp882Ala)
1g.209618525C>ACA344585101LAMB3c.2836G>T (p.Asp946Tyr)
c.43G>T (p.Asp15Tyr)
c.2644G>T (p.Asp882Tyr)
1g.209618525C>GCA344585100LAMB3c.2836G>C (p.Asp946His)
c.43G>C (p.Asp15His)
c.2644G>C (p.Asp882His)
1g.209618525C>TCA344585099LAMB3c.2836G>A (p.Asp946Asn)
c.43G>A (p.Asp15Asn)
c.2644G>A (p.Asp882Asn)
 COSMIC
1g.209618526C>ACA423030037LAMB3c.2835G>T (p.Val945=)
c.42G>T (p.Val14=)
c.2643G>T (p.Val881=)
1g.209618526C>GCA423030038LAMB3c.2835G>C (p.Val945=)
c.42G>C (p.Val14=)
c.2643G>C (p.Val881=)
1g.209618526C>TCA423030039LAMB3c.2835G>A (p.Val945=)
c.42G>A (p.Val14=)
c.2643G>A (p.Val881=)
1g.209618527A>CCA344585103LAMB3c.2834T>G (p.Val945Gly)
c.41T>G (p.Val14Gly)
c.2642T>G (p.Val881Gly)
1g.209618527A>GCA344585102LAMB3c.2834T>C (p.Val945Ala)
c.41T>C (p.Val14Ala)
c.2642T>C (p.Val881Ala)
1g.209618527A>TCA344585104LAMB3c.2834T>A (p.Val945Glu)
c.41T>A (p.Val14Glu)
c.2642T>A (p.Val881Glu)
1g.209618528C>ACA1375084LAMB3c.2833G>T (p.Val945Leu)
c.40G>T (p.Val14Leu)
c.2641G>T (p.Val881Leu)
 dbSNP ExAC gnomAD v2
1g.209618528C=CA2484296283LAMB3c.2833G= (p.Val945=)
c.40G= (p.Val14=)
c.2641G= (p.Val881=)
1g.209618528C>GCA344585105LAMB3c.2833G>C (p.Val945Leu)
c.40G>C (p.Val14Leu)
c.2641G>C (p.Val881Leu)
 gnomAD v4
1g.209618528C>TCA1375083LAMB3c.2833G>A (p.Val945Met)
c.40G>A (p.Val14Met)
c.2641G>A (p.Val881Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618529G>ACA1375085LAMB3c.2832C>T (p.Asn944=)
c.39C>T (p.Asn13=)
c.2640C>T (p.Asn880=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618529G>CCA344585106LAMB3c.2832C>G (p.Asn944Lys)
c.39C>G (p.Asn13Lys)
c.2640C>G (p.Asn880Lys)
1g.209618529G=CA1141248731LAMB3c.2832C= (p.Asn944=)
c.39C= (p.Asn13=)
c.2640C= (p.Asn880=)
1g.209618529G>TCA344585107LAMB3c.2832C>A (p.Asn944Lys)
c.39C>A (p.Asn13Lys)
c.2640C>A (p.Asn880Lys)
1g.209618530T>ACA344585109LAMB3c.2831A>T (p.Asn944Ile)
c.38A>T (p.Asn13Ile)
c.2639A>T (p.Asn880Ile)
1g.209618530T>CCA1375086LAMB3c.2831A>G (p.Asn944Ser)
c.38A>G (p.Asn13Ser)
c.2639A>G (p.Asn880Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618530T>GCA344585108LAMB3c.2831A>C (p.Asn944Thr)
c.38A>C (p.Asn13Thr)
c.2639A>C (p.Asn880Thr)
 dbSNP gnomAD v4
1g.209618530T=CA1147322938LAMB3c.2831A= (p.Asn944=)
c.38A= (p.Asn13=)
c.2639A= (p.Asn880=)
1g.209618531T>ACA344585110LAMB3c.2830A>T (p.Asn944Tyr)
c.37A>T (p.Asn13Tyr)
c.2638A>T (p.Asn880Tyr)
1g.209618531T>CCA344585111LAMB3c.2830A>G (p.Asn944Asp)
c.37A>G (p.Asn13Asp)
c.2638A>G (p.Asn880Asp)
1g.209618531T>GCA344585112LAMB3c.2830A>C (p.Asn944His)
c.37A>C (p.Asn13His)
c.2638A>C (p.Asn880His)
1g.209618532G>ACA423030046LAMB3c.2829C>T (p.Pro943=)
c.36C>T (p.Pro12=)
c.2637C>T (p.Pro879=)
1g.209618532G>CCA423030047LAMB3c.2829C>G (p.Pro943=)
c.36C>G (p.Pro12=)
c.2637C>G (p.Pro879=)
1g.209618532G>TCA423030048LAMB3c.2829C>A (p.Pro943=)
c.36C>A (p.Pro12=)
c.2637C>A (p.Pro879=)
1g.209618533G>ACA344585113LAMB3c.2828C>T (p.Pro943Leu)
c.35C>T (p.Pro12Leu)
c.2636C>T (p.Pro879Leu)
1g.209618533G>CCA1375087LAMB3c.2828C>G (p.Pro943Arg)
c.35C>G (p.Pro12Arg)
c.2636C>G (p.Pro879Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209618533G=CA1149114322LAMB3c.2828C= (p.Pro943=)
c.35C= (p.Pro12=)
c.2636C= (p.Pro879=)
1g.209618533G>TCA344585114LAMB3c.2828C>A (p.Pro943His)
c.35C>A (p.Pro12His)
c.2636C>A (p.Pro879His)
1g.209618534G>ACA344585116LAMB3c.2827C>T (p.Pro943Ser)
c.34C>T (p.Pro12Ser)
c.2635C>T (p.Pro879Ser)
1g.209618534G>CCA1375088LAMB3c.2827C>G (p.Pro943Ala)
c.34C>G (p.Pro12Ala)
c.2635C>G (p.Pro879Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618534G=CA1142116265LAMB3c.2827C= (p.Pro943=)
c.34C= (p.Pro12=)
c.2635C= (p.Pro879=)
1g.209618534G>TCA344585115LAMB3c.2827C>A (p.Pro943Thr)
c.34C>A (p.Pro12Thr)
c.2635C>A (p.Pro879Thr)
1g.209618535G>ACA423030049LAMB3c.2826C>T (p.Leu942=)
c.33C>T (p.Leu11=)
c.2634C>T (p.Leu878=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.209618535G>CCA423030050LAMB3c.2826C>G (p.Leu942=)
c.33C>G (p.Leu11=)
c.2634C>G (p.Leu878=)
1g.209618535G=CA2484296284LAMB3c.2826C= (p.Leu942=)
c.33C= (p.Leu11=)
c.2634C= (p.Leu878=)
1g.209618535G>TCA423030051LAMB3c.2826C>A (p.Leu942=)
c.33C>A (p.Leu11=)
c.2634C>A (p.Leu878=)
1g.209618536A>CCA344585117LAMB3c.2825T>G (p.Leu942Arg)
c.32T>G (p.Leu11Arg)
c.2633T>G (p.Leu878Arg)
1g.209618536A>GCA344585118LAMB3c.2825T>C (p.Leu942Pro)
c.32T>C (p.Leu11Pro)
c.2633T>C (p.Leu878Pro)
 gnomAD v4
1g.209618536A>TCA344585119LAMB3c.2825T>A (p.Leu942His)
c.32T>A (p.Leu11His)
c.2633T>A (p.Leu878His)
1g.209618537G>ACA344585120LAMB3c.2824C>T (p.Leu942Phe)
c.31C>T (p.Leu11Phe)
c.2632C>T (p.Leu878Phe)
1g.209618537G>CCA344585121LAMB3c.2824C>G (p.Leu942Val)
c.31C>G (p.Leu11Val)
c.2632C>G (p.Leu878Val)
1g.209618537G=CA2484296285LAMB3c.2824C= (p.Leu942=)
c.31C= (p.Leu11=)
c.2632C= (p.Leu878=)
1g.209618537G>TCA36750206LAMB3c.2824C>A (p.Leu942Ile)
c.31C>A (p.Leu11Ile)
c.2632C>A (p.Leu878Ile)
 dbSNP
1g.209618538C>ACA344585122LAMB3c.2823G>T (p.Arg941Ser)
c.30G>T (p.Arg10Ser)
c.2631G>T (p.Arg877Ser)
1g.209618538C=CA1144199222LAMB3c.2823G= (p.Arg941=)
c.30G= (p.Arg10=)
c.2631G= (p.Arg877=)
1g.209618538C>GCA36750213LAMB3c.2823G>C (p.Arg941Ser)
c.30G>C (p.Arg10Ser)
c.2631G>C (p.Arg877Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209618538C>TCA423030052LAMB3c.2823G>A (p.Arg941=)
c.30G>A (p.Arg10=)
c.2631G>A (p.Arg877=)
 dbSNP gnomAD v4
1g.209618539delCA2697554864LAMB3c.2823del (p.Arg941SerfsTer?)
c.30del (p.Arg10SerfsTer?)
c.2631del (p.Arg877SerfsTer?)
 ClinVar
1g.209618539C>ACA344585123LAMB3c.2822G>T (p.Arg941Met)
c.29G>T (p.Arg10Met)
c.2630G>T (p.Arg877Met)
1g.209618539C>GCA344585124LAMB3c.2822G>C (p.Arg941Thr)
c.29G>C (p.Arg10Thr)
c.2630G>C (p.Arg877Thr)
1g.209618539C>TCA344585125LAMB3c.2822G>A (p.Arg941Lys)
c.29G>A (p.Arg10Lys)
c.2630G>A (p.Arg877Lys)
1g.209618540T>ACA344585126LAMB3c.2821A>T (p.Arg941Trp)
c.28A>T (p.Arg10Trp)
c.2629A>T (p.Arg877Trp)
1g.209618540T>CCA344585127LAMB3c.2821A>G (p.Arg941Gly)
c.28A>G (p.Arg10Gly)
c.2629A>G (p.Arg877Gly)
1g.209618540T>GCA423030055LAMB3c.2821A>C (p.Arg941=)
c.28A>C (p.Arg10=)
c.2629A>C (p.Arg877=)
1g.209618541G>ACA423030061LAMB3c.2820C>T (p.Ala940=)
c.27C>T (p.Ala9=)
c.2628C>T (p.Ala876=)
1g.209618541G>CCA423030060LAMB3c.2820C>G (p.Ala940=)
c.27C>G (p.Ala9=)
c.2628C>G (p.Ala876=)
1g.209618541G>TCA423030057LAMB3c.2820C>A (p.Ala940=)
c.27C>A (p.Ala9=)
c.2628C>A (p.Ala876=)
1g.209618542G>ACA344585128LAMB3c.2819C>T (p.Ala940Val)
c.26C>T (p.Ala9Val)
c.2627C>T (p.Ala876Val)
 gnomAD v4
1g.209618542G>CCA344585130LAMB3c.2819C>G (p.Ala940Gly)
c.26C>G (p.Ala9Gly)
c.2627C>G (p.Ala876Gly)
1g.209618542G>TCA344585129LAMB3c.2819C>A (p.Ala940Asp)
c.26C>A (p.Ala9Asp)
c.2627C>A (p.Ala876Asp)
1g.209618543C>ACA344585131LAMB3c.2818G>T (p.Ala940Ser)
c.25G>T (p.Ala9Ser)
c.2626G>T (p.Ala876Ser)
1g.209618543C=CA2484296286LAMB3c.2818G= (p.Ala940=)
c.25G= (p.Ala9=)
c.2626G= (p.Ala876=)
1g.209618543C>GCA344585132LAMB3c.2818G>C (p.Ala940Pro)
c.25G>C (p.Ala9Pro)
c.2626G>C (p.Ala876Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.209618543C>TCA344585133LAMB3c.2818G>A (p.Ala940Thr)
c.25G>A (p.Ala9Thr)
c.2626G>A (p.Ala876Thr)
 gnomAD v4
1g.209618544T>ACA423030064LAMB3c.2817A>T (p.Ala939=)
c.24A>T (p.Ala8=)
c.2625A>T (p.Ala875=)
1g.209618544T>CCA423030066LAMB3c.2817A>G (p.Ala939=)
c.24A>G (p.Ala8=)
c.2625A>G (p.Ala875=)
1g.209618544T>GCA423030065LAMB3c.2817A>C (p.Ala939=)
c.24A>C (p.Ala8=)
c.2625A>C (p.Ala875=)
1g.209618545G>ACA344585134LAMB3c.2816C>T (p.Ala939Val)
c.23C>T (p.Ala8Val)
c.2624C>T (p.Ala875Val)
 gnomAD v4
1g.209618545G>CCA344585135LAMB3c.2816C>G (p.Ala939Gly)
c.23C>G (p.Ala8Gly)
c.2624C>G (p.Ala875Gly)
1g.209618545G>TCA344585136LAMB3c.2816C>A (p.Ala939Glu)
c.23C>A (p.Ala8Glu)
c.2624C>A (p.Ala875Glu)
1g.209618546C>ACA344585137LAMB3c.2815G>T (p.Ala939Ser)
c.22G>T (p.Ala8Ser)
c.2623G>T (p.Ala875Ser)
1g.209618546C=CA2484296287LAMB3c.2815G= (p.Ala939=)
c.22G= (p.Ala8=)
c.2623G= (p.Ala875=)
1g.209618546C>GCA344585138LAMB3c.2815G>C (p.Ala939Pro)
c.22G>C (p.Ala8Pro)
c.2623G>C (p.Ala875Pro)
1g.209618546C>TCA344585139LAMB3c.2815G>A (p.Ala939Thr)
c.22G>A (p.Ala8Thr)
c.2623G>A (p.Ala875Thr)
 dbSNP gnomAD v4
1g.209618547A>CCA344585140LAMB3c.2814T>G (p.Ile938Met)
c.21T>G (p.Ile7Met)
c.2622T>G (p.Ile874Met)
1g.209618547A>GCA423030070LAMB3c.2814T>C (p.Ile938=)
c.21T>C (p.Ile7=)
c.2622T>C (p.Ile874=)
1g.209618547A>TCA423030071LAMB3c.2814T>A (p.Ile938=)
c.21T>A (p.Ile7=)
c.2622T>A (p.Ile874=)
1g.209618548A=CA2484296288LAMB3c.2813T= (p.Ile938=)
c.20T= (p.Ile7=)
c.2621T= (p.Ile874=)
1g.209618548A>CCA344585141LAMB3c.2813T>G (p.Ile938Ser)
c.20T>G (p.Ile7Ser)
c.2621T>G (p.Ile874Ser)
1g.209618548A>GCA1375089LAMB3c.2813T>C (p.Ile938Thr)
c.20T>C (p.Ile7Thr)
c.2621T>C (p.Ile874Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618548A>TCA344585142LAMB3c.2813T>A (p.Ile938Asn)
c.20T>A (p.Ile7Asn)
c.2621T>A (p.Ile874Asn)
1g.209618549T>ACA344585144LAMB3c.2812A>T (p.Ile938Phe)
c.19A>T (p.Ile7Phe)
c.2620A>T (p.Ile874Phe)
1g.209618549T>CCA1375090LAMB3c.2812A>G (p.Ile938Val)
c.19A>G (p.Ile7Val)
c.2620A>G (p.Ile874Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209618549T>GCA344585143LAMB3c.2812A>C (p.Ile938Leu)
c.19A>C (p.Ile7Leu)
c.2620A>C (p.Ile874Leu)
1g.209618549T=CA1148897863LAMB3c.2812A= (p.Ile938=)
c.19A= (p.Ile7=)
c.2620A= (p.Ile874=)
1g.209618550G>ACA423030076LAMB3c.2811C>T (p.Ala937=)
c.18C>T (p.Ala6=)
c.2619C>T (p.Ala873=)
1g.209618550G>CCA423030077LAMB3c.2811C>G (p.Ala937=)
c.18C>G (p.Ala6=)
c.2619C>G (p.Ala873=)
1g.209618550G>TCA423030078LAMB3c.2811C>A (p.Ala937=)
c.18C>A (p.Ala6=)
c.2619C>A (p.Ala873=)
1g.209618551G>ACA344585145LAMB3c.2810C>T (p.Ala937Val)
c.17C>T (p.Ala6Val)
c.2618C>T (p.Ala873Val)
 gnomAD v4
1g.209618551G>CCA344585146LAMB3c.2810C>G (p.Ala937Gly)
c.17C>G (p.Ala6Gly)
c.2618C>G (p.Ala873Gly)
1g.209618551G>TCA344585147LAMB3c.2810C>A (p.Ala937Asp)
c.17C>A (p.Ala6Asp)
c.2618C>A (p.Ala873Asp)
1g.209618552C>ACA344585148LAMB3c.2809G>T (p.Ala937Ser)
c.16G>T (p.Ala6Ser)
c.2617G>T (p.Ala873Ser)
1g.209618552C=CA2484296289LAMB3c.2809G= (p.Ala937=)
c.16G= (p.Ala6=)
c.2617G= (p.Ala873=)
1g.209618552C>GCA344585149LAMB3c.2809G>C (p.Ala937Pro)
c.16G>C (p.Ala6Pro)
c.2617G>C (p.Ala873Pro)
1g.209618552C>TCA36750221LAMB3c.2809G>A (p.Ala937Thr)
c.16G>A (p.Ala6Thr)
c.2617G>A (p.Ala873Thr)
 dbSNP
1g.209618553C>ACA344585150LAMB3c.2808G>T (p.Gln936His)
c.15G>T (p.Gln5His)
c.2616G>T (p.Gln872His)
1g.209618553C>GCA344585151LAMB3c.2808G>C (p.Gln936His)
c.15G>C (p.Gln5His)
c.2616G>C (p.Gln872His)
1g.209618553C>TCA423030083LAMB3c.2808G>A (p.Gln936=)
c.15G>A (p.Gln5=)
c.2616G>A (p.Gln872=)
1g.209618554T>ACA344585152LAMB3c.2807A>T (p.Gln936Leu)
c.14A>T (p.Gln5Leu)
c.2615A>T (p.Gln872Leu)
1g.209618554T>CCA344585153LAMB3c.2807A>G (p.Gln936Arg)
c.14A>G (p.Gln5Arg)
c.2615A>G (p.Gln872Arg)
1g.209618554T>GCA344585154LAMB3c.2807A>C (p.Gln936Pro)
c.14A>C (p.Gln5Pro)
c.2615A>C (p.Gln872Pro)
1g.209618555G>ACA257280LAMB3c.2806C>T (p.Gln936Ter)
c.13C>T (p.Gln5Ter)
c.2614C>T (p.Gln872Ter)
 ClinVar dbSNP
1g.209618555G>CCA344585156LAMB3c.2806C>G (p.Gln936Glu)
c.13C>G (p.Gln5Glu)
c.2614C>G (p.Gln872Glu)
1g.209618555G=CA1141581351LAMB3c.2806C= (p.Gln936=)
c.13C= (p.Gln5=)
c.2614C= (p.Gln872=)
1g.209618555G>TCA344585155LAMB3c.2806C>A (p.Gln936Lys)
c.13C>A (p.Gln5Lys)
c.2614C>A (p.Gln872Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.209618556G>ACA423030085LAMB3c.2805C>T (p.Ile935=)
c.12C>T (p.Ile4=)
c.2613C>T (p.Ile871=)
 gnomAD v4
1g.209618556G>CCA344585157LAMB3c.2805C>G (p.Ile935Met)
c.12C>G (p.Ile4Met)
c.2613C>G (p.Ile871Met)
1g.209618556G>TCA423030087LAMB3c.2805C>A (p.Ile935=)
c.12C>A (p.Ile4=)
c.2613C>A (p.Ile871=)
1g.209618557A>CCA344585160LAMB3c.2804T>G (p.Ile935Ser)
c.11T>G (p.Ile4Ser)
c.2612T>G (p.Ile871Ser)
 gnomAD v4
1g.209618557A>GCA344585158LAMB3c.2804T>C (p.Ile935Thr)
c.11T>C (p.Ile4Thr)
c.2612T>C (p.Ile871Thr)
1g.209618557A>TCA344585159LAMB3c.2804T>A (p.Ile935Asn)
c.11T>A (p.Ile4Asn)
c.2612T>A (p.Ile871Asn)
1g.209618558T>ACA36750224LAMB3c.2803A>T (p.Ile935Phe)
c.10A>T (p.Ile4Phe)
c.2611A>T (p.Ile871Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.209618558T>CCA344585161LAMB3c.2803A>G (p.Ile935Val)
c.10A>G (p.Ile4Val)
c.2611A>G (p.Ile871Val)
1g.209618558T>GCA344585162LAMB3c.2803A>C (p.Ile935Leu)
c.10A>C (p.Ile4Leu)
c.2611A>C (p.Ile871Leu)
1g.209618558T=CA2484296290LAMB3c.2803A= (p.Ile935=)
c.10A= (p.Ile4=)
c.2611A= (p.Ile871=)
1g.209618559C>ACA1375091LAMB3c.2802G>T (p.Glu934Asp)
c.9G>T (p.Glu3Asp)
c.2610G>T (p.Glu870Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618559C=CA2484296291LAMB3c.2802G= (p.Glu934=)
c.9G= (p.Glu3=)
c.2610G= (p.Glu870=)
1g.209618559C>GCA344585163LAMB3c.2802G>C (p.Glu934Asp)
c.9G>C (p.Glu3Asp)
c.2610G>C (p.Glu870Asp)
1g.209618559C>TCA1375092LAMB3c.2802G>A (p.Glu934=)
c.9G>A (p.Glu3=)
c.2610G>A (p.Glu870=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.209618560T>ACA344585164LAMB3c.2801A>T (p.Glu934Val)
c.8A>T (p.Glu3Val)
c.2609A>T (p.Glu870Val)
 dbSNP
1g.209618560T>CCA344585165LAMB3c.2801A>G (p.Glu934Gly)
c.8A>G (p.Glu3Gly)
c.2609A>G (p.Glu870Gly)
1g.209618560T>GCA1375093LAMB3c.2801A>C (p.Glu934Ala)
c.8A>C (p.Glu3Ala)
c.2609A>C (p.Glu870Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209618560T=CA2484296292LAMB3c.2801A= (p.Glu934=)
c.8A= (p.Glu3=)
c.2609A= (p.Glu870=)
1g.209618561delCA2580061993LAMB3c.2800del (p.Glu934ArgfsTer?)
c.7del (p.Glu3ArgfsTer?)
c.2608del (p.Glu870ArgfsTer?)
 ClinVar
1g.209618561C>ACA344585168LAMB3c.2800G>T (p.Glu934Ter)
c.7G>T (p.Glu3Ter)
c.2608G>T (p.Glu870Ter)
1g.209618561C>GCA344585166LAMB3c.2800G>C (p.Glu934Gln)
c.7G>C (p.Glu3Gln)
c.2608G>C (p.Glu870Gln)
1g.209618561C>TCA344585167LAMB3c.2800G>A (p.Glu934Lys)
c.7G>A (p.Glu3Lys)
c.2608G>A (p.Glu870Lys)
 gnomAD v4
1g.209618562A=CA2484296293LAMB3c.2799T= (p.Asn933=)
c.6T= (p.Asn2=)
c.2607T= (p.Asn869=)
1g.209618562A>CCA344585169LAMB3c.2799T>G (p.Asn933Lys)
c.6T>G (p.Asn2Lys)
c.2607T>G (p.Asn869Lys)
 gnomAD v4
1g.209618562A>GCA423030094LAMB3c.2799T>C (p.Asn933=)
c.6T>C (p.Asn2=)
c.2607T>C (p.Asn869=)
 ClinVar dbSNP
1g.209618562A>TCA344585170LAMB3c.2799T>A (p.Asn933Lys)
c.6T>A (p.Asn2Lys)
c.2607T>A (p.Asn869Lys)
1g.209618563T>ACA344585171LAMB3c.2798A>T (p.Asn933Ile)
c.5A>T (p.Asn2Ile)
c.2606A>T (p.Asn869Ile)
 gnomAD v4
1g.209618563T>CCA344585172LAMB3c.2798A>G (p.Asn933Ser)
c.5A>G (p.Asn2Ser)
c.2606A>G (p.Asn869Ser)
 dbSNP gnomAD v4
1g.209618563T>GCA344585173LAMB3c.2798A>C (p.Asn933Thr)
c.5A>C (p.Asn2Thr)
c.2606A>C (p.Asn869Thr)
1g.209618563T=CA2484296294LAMB3c.2798A= (p.Asn933=)
c.5A= (p.Asn2=)
c.2606A= (p.Asn869=)
1g.209618564T>ACA344585174LAMB3c.2797A>T (p.Asn933Tyr)
c.4A>T (p.Asn2Tyr)
c.2605A>T (p.Asn869Tyr)
1g.209618564T>CCA344585175LAMB3c.2797A>G (p.Asn933Asp)
c.4A>G (p.Asn2Asp)
c.2605A>G (p.Asn869Asp)
1g.209618564T>GCA344585176LAMB3c.2797A>C (p.Asn933His)
c.4A>C (p.Asn2His)
c.2605A>C (p.Asn869His)
1g.209618565C>ACA344585177LAMB3c.2796G>T (p.Met932Ile)
c.3G>T (p.Met1Ile)
c.2604G>T (p.Met868Ile)
1g.209618565C>GCA344585178LAMB3c.2796G>C (p.Met932Ile)
c.3G>C (p.Met1Ile)
c.2604G>C (p.Met868Ile)
1g.209618565C>TCA344585179LAMB3c.2796G>A (p.Met932Ile)
c.3G>A (p.Met1Ile)
c.2604G>A (p.Met868Ile)
 gnomAD v4
1g.209618566A=CA1141705368LAMB3c.2795T= (p.Met932=)
c.2T= (p.Met1=)
c.2603T= (p.Met868=)
1g.209618566A>CCA344585181LAMB3c.2795T>G (p.Met932Arg)
c.2T>G (p.Met1Arg)
c.2603T>G (p.Met868Arg)
1g.209618566A>GCA1375094LAMB3c.2795T>C (p.Met932Thr)
c.2T>C (p.Met1Thr)
c.2603T>C (p.Met868Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209618566A>TCA344585180LAMB3c.2795T>A (p.Met932Lys)
c.2T>A (p.Met1Lys)
c.2603T>A (p.Met868Lys)
1g.209618567T>ACA344585182LAMB3c.2794A>T (p.Met932Leu)
c.1A>T (p.Met1Leu)
c.2602A>T (p.Met868Leu)
1g.209618567T>CCA344585183LAMB3c.2794A>G (p.Met932Val)
c.1A>G (p.Met1Val)
c.2602A>G (p.Met868Val)
 dbSNP gnomAD v3 gnomAD v4
1g.209618567T>GCA344585184LAMB3c.2794A>C (p.Met932Leu)
c.1A>C (p.Met1Leu)
c.2602A>C (p.Met868Leu)
1g.209618567T=CA2484296295LAMB3c.2794A= (p.Met932=)
c.1A= (p.Met1=)
c.2602A= (p.Met868=)
1g.209618568C>ACA344585185LAMB3c.2793G>T (p.Lys931Asn)
c.-1G>T (n.-1G>T)
c.2601G>T (p.Lys867Asn)
1g.209618568C=CA2484296296LAMB3c.2793G= (p.Lys931=)
c.-1G= (n.-1G=)
c.2601G= (p.Lys867=)
1g.209618568C>GCA344585186LAMB3c.2793G>C (p.Lys931Asn)
c.-1G>C (n.-1G>C)
c.2601G>C (p.Lys867Asn)
1g.209618568C>TCA423030098LAMB3c.2793G>A (p.Lys931=)
c.-1G>A (n.-1G>A)
c.2601G>A (p.Lys867=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
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

Number of alleles fetched