Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209615356_209615358delinsACCCA891862877LAMB3c.3432_3434delinsGGT (p.Ala1145Val)
c.3240_3242delinsGGT (p.Ala1081Val)
 ClinVar dbSNP
1g.209615356_209615358delinsGCTCA2484295007LAMB3c.3432_3434delinsAGC (p.Ser1144=)
c.3240_3242delinsAGC (p.Ser1080=)
1g.209615357C>ACA344581046LAMB3c.3433G>T (p.Ala1145Ser)
c.3241G>T (p.Ala1081Ser)
1g.209615357C>GCA344581048LAMB3c.3433G>C (p.Ala1145Pro)
c.3241G>C (p.Ala1081Pro)
1g.209615357C>TCA344581052LAMB3c.3433G>A (p.Ala1145Thr)
c.3241G>A (p.Ala1081Thr)
 COSMIC
1g.209615358T>ACA423028223LAMB3c.3432A>T (p.Ser1144=)
c.3240A>T (p.Ser1080=)
 gnomAD v4
1g.209615358T>CCA1374860LAMB3c.3432A>G (p.Ser1144=)
c.3240A>G (p.Ser1080=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209615358T>GCA423028224LAMB3c.3432A>C (p.Ser1144=)
c.3240A>C (p.Ser1080=)
1g.209615358T=CA1139849130LAMB3c.3432A= (p.Ser1144=)
c.3240A= (p.Ser1080=)
1g.209615359G>ACA344581059LAMB3c.3431C>T (p.Ser1144Leu)
c.3239C>T (p.Ser1080Leu)
 gnomAD v4
1g.209615359G>CCA344581062LAMB3c.3431C>G (p.Ser1144Ter)
c.3239C>G (p.Ser1080Ter)
1g.209615359G=CA2484295009LAMB3c.3431C= (p.Ser1144=)
c.3239C= (p.Ser1080=)
1g.209615359G>TCA358834LAMB3c.3431C>A (p.Ser1144Ter)
c.3239C>A (p.Ser1080Ter)
 ClinVar dbSNP
1g.209615360A>CCA344581067LAMB3c.3430T>G (p.Ser1144Ala)
c.3238T>G (p.Ser1080Ala)
1g.209615360A>GCA344581070LAMB3c.3430T>C (p.Ser1144Pro)
c.3238T>C (p.Ser1080Pro)
1g.209615360A>TCA344581072LAMB3c.3430T>A (p.Ser1144Thr)
c.3238T>A (p.Ser1080Thr)
1g.209615361G>ACA423028228LAMB3c.3429C>T (p.Arg1143=)
c.3237C>T (p.Arg1079=)
 ClinVar dbSNP
1g.209615361G>CCA423028229LAMB3c.3429C>G (p.Arg1143=)
c.3237C>G (p.Arg1079=)
1g.209615361G>TCA423028230LAMB3c.3429C>A (p.Arg1143=)
c.3237C>A (p.Arg1079=)
1g.209615363_209615364delCA2586967981LAMB3c.3428_3429del (p.Arg1143LeufsTer16)
c.3236_3237del (p.Arg1079LeufsTer16)
1g.209615362delCA2650319475LAMB3c.3428del (p.Arg1143ProfsTer5)
c.3236del (p.Arg1079ProfsTer5)
 gnomAD v4
1g.209615362C>ACA344581075LAMB3c.3428G>T (p.Arg1143Leu)
c.3236G>T (p.Arg1079Leu)
 dbSNP
1g.209615362C=CA2484295010LAMB3c.3428G= (p.Arg1143=)
c.3236G= (p.Arg1079=)
1g.209615362C>GCA344581076LAMB3c.3428G>C (p.Arg1143Pro)
c.3236G>C (p.Arg1079Pro)
1g.209615362C>TCA344581079LAMB3c.3428G>A (p.Arg1143His)
c.3236G>A (p.Arg1079His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209615363G>ACA1374861LAMB3c.3427C>T (p.Arg1143Cys)
c.3235C>T (p.Arg1079Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209615363G>CCA344581085LAMB3c.3427C>G (p.Arg1143Gly)
c.3235C>G (p.Arg1079Gly)
 gnomAD v4
1g.209615363G=CA1143781496LAMB3c.3427C= (p.Arg1143=)
c.3235C= (p.Arg1079=)
1g.209615363G>TCA344581087LAMB3c.3427C>A (p.Arg1143Ser)
c.3235C>A (p.Arg1079Ser)
1g.209615365_209615375delCA2747561638LAMB3c.3417_3427del (p.Ile1140LeufsTer16)
c.3225_3235del (p.Ile1076LeufsTer16)
1g.209615364C>ACA423028231LAMB3c.3426G>T (p.Leu1142=)
c.3234G>T (p.Leu1078=)
1g.209615364C=CA2484295011LAMB3c.3426G= (p.Leu1142=)
c.3234G= (p.Leu1078=)
1g.209615364C>GCA423028232LAMB3c.3426G>C (p.Leu1142=)
c.3234G>C (p.Leu1078=)
1g.209615364C>TCA1374862LAMB3c.3426G>A (p.Leu1142=)
c.3234G>A (p.Leu1078=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209615365A>CCA344581097LAMB3c.3425T>G (p.Leu1142Arg)
c.3233T>G (p.Leu1078Arg)
1g.209615365A>GCA344581095LAMB3c.3425T>C (p.Leu1142Pro)
c.3233T>C (p.Leu1078Pro)
1g.209615365A>TCA344581094LAMB3c.3425T>A (p.Leu1142Gln)
c.3233T>A (p.Leu1078Gln)
1g.209615366G>ACA423028233LAMB3c.3424C>T (p.Leu1142=)
c.3232C>T (p.Leu1078=)
1g.209615366G>CCA344581098LAMB3c.3424C>G (p.Leu1142Val)
c.3232C>G (p.Leu1078Val)
1g.209615366G>TCA344581100LAMB3c.3424C>A (p.Leu1142Met)
c.3232C>A (p.Leu1078Met)
1g.209615367C>ACA344581103LAMB3c.3423G>T (p.Met1141Ile)
c.3231G>T (p.Met1077Ile)
1g.209615367C>GCA344581105LAMB3c.3423G>C (p.Met1141Ile)
c.3231G>C (p.Met1077Ile)
1g.209615367C>TCA344581104LAMB3c.3423G>A (p.Met1141Ile)
c.3231G>A (p.Met1077Ile)
1g.209615368A=CA2484295012LAMB3c.3422T= (p.Met1141=)
c.3230T= (p.Met1077=)
1g.209615368A>CCA344581109LAMB3c.3422T>G (p.Met1141Arg)
c.3230T>G (p.Met1077Arg)
1g.209615368A>GCA344581112LAMB3c.3422T>C (p.Met1141Thr)
c.3230T>C (p.Met1077Thr)
 dbSNP gnomAD v2
1g.209615368A>TCA344581114LAMB3c.3422T>A (p.Met1141Lys)
c.3230T>A (p.Met1077Lys)
1g.209615369T>ACA1374863LAMB3c.3421A>T (p.Met1141Leu)
c.3229A>T (p.Met1077Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209615369T>CCA344581120LAMB3c.3421A>G (p.Met1141Val)
c.3229A>G (p.Met1077Val)
 dbSNP gnomAD v2
1g.209615369T>GCA344581122LAMB3c.3421A>C (p.Met1141Leu)
c.3229A>C (p.Met1077Leu)
1g.209615369T=CA2484295013LAMB3c.3421A= (p.Met1141=)
c.3229A= (p.Met1077=)
1g.209615370G>ACA423028235LAMB3c.3420C>T (p.Ile1140=)
c.3228C>T (p.Ile1076=)
 COSMIC
1g.209615370G>CCA344581124LAMB3c.3420C>G (p.Ile1140Met)
c.3228C>G (p.Ile1076Met)
 dbSNP gnomAD v3 gnomAD v4
1g.209615370G=CA2484295014LAMB3c.3420C= (p.Ile1140=)
c.3228C= (p.Ile1076=)
1g.209615370G>TCA423028236LAMB3c.3420C>A (p.Ile1140=)
c.3228C>A (p.Ile1076=)
 gnomAD v4
1g.209615371A>CCA344581128LAMB3c.3419T>G (p.Ile1140Ser)
c.3227T>G (p.Ile1076Ser)
1g.209615371A>GCA344581130LAMB3c.3419T>C (p.Ile1140Thr)
c.3227T>C (p.Ile1076Thr)
 gnomAD v4
1g.209615371A>TCA344581132LAMB3c.3419T>A (p.Ile1140Asn)
c.3227T>A (p.Ile1076Asn)
1g.209615372T>ACA344581136LAMB3c.3418A>T (p.Ile1140Phe)
c.3226A>T (p.Ile1076Phe)
1g.209615372T>CCA344581139LAMB3c.3418A>G (p.Ile1140Val)
c.3226A>G (p.Ile1076Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209615372T>GCA344581141LAMB3c.3418A>C (p.Ile1140Leu)
c.3226A>C (p.Ile1076Leu)
 dbSNP gnomAD v4
1g.209615372T=CA2484295015LAMB3c.3418A= (p.Ile1140=)
c.3226A= (p.Ile1076=)
1g.209615373G>ACA423028237LAMB3c.3417C>T (p.Ala1139=)
c.3225C>T (p.Ala1075=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.209615373G>CCA423028239LAMB3c.3417C>G (p.Ala1139=)
c.3225C>G (p.Ala1075=)
 ClinVar dbSNP
1g.209615373G=CA2484295016LAMB3c.3417C= (p.Ala1139=)
c.3225C= (p.Ala1075=)
1g.209615373G>TCA423028240LAMB3c.3417C>A (p.Ala1139=)
c.3225C>A (p.Ala1075=)
1g.209615374G>ACA344581144LAMB3c.3416C>T (p.Ala1139Val)
c.3224C>T (p.Ala1075Val)
 ClinVar dbSNP gnomAD v4
1g.209615374G>CCA344581148LAMB3c.3416C>G (p.Ala1139Gly)
c.3224C>G (p.Ala1075Gly)
 gnomAD v4
1g.209615374G=CA2484295017LAMB3c.3416C= (p.Ala1139=)
c.3224C= (p.Ala1075=)
1g.209615374G>TCA344581146LAMB3c.3416C>A (p.Ala1139Asp)
c.3224C>A (p.Ala1075Asp)
 gnomAD v4
1g.209615375C>ACA344581150LAMB3c.3415G>T (p.Ala1139Ser)
c.3223G>T (p.Ala1075Ser)
1g.209615375C=CA2484295018LAMB3c.3415G= (p.Ala1139=)
c.3223G= (p.Ala1075=)
1g.209615375C>GCA36743026LAMB3c.3415G>C (p.Ala1139Pro)
c.3223G>C (p.Ala1075Pro)
 dbSNP
1g.209615375C>TCA344581152LAMB3c.3415G>A (p.Ala1139Thr)
c.3223G>A (p.Ala1075Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209615376C>ACA344581154LAMB3c.3414G>T (p.Gln1138His)
c.3222G>T (p.Gln1074His)
1g.209615376C=CA2484295019LAMB3c.3414G= (p.Gln1138=)
c.3222G= (p.Gln1074=)
1g.209615376C>GCA344581155LAMB3c.3414G>C (p.Gln1138His)
c.3222G>C (p.Gln1074His)
1g.209615376C>TCA1374864LAMB3c.3414G>A (p.Gln1138=)
c.3222G>A (p.Gln1074=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.209615377T>ACA344581158LAMB3c.3413A>T (p.Gln1138Leu)
c.3221A>T (p.Gln1074Leu)
1g.209615377T>CCA1374865LAMB3c.3413A>G (p.Gln1138Arg)
c.3221A>G (p.Gln1074Arg)
 dbSNP ExAC gnomAD v4
1g.209615377T>GCA344581160LAMB3c.3413A>C (p.Gln1138Pro)
c.3221A>C (p.Gln1074Pro)
1g.209615377T=CA1148717324LAMB3c.3413A= (p.Gln1138=)
c.3221A= (p.Gln1074=)
1g.209615378G>ACA344581167LAMB3c.3412C>T (p.Gln1138Ter)
c.3220C>T (p.Gln1074Ter)
1g.209615378G>CCA344581165LAMB3c.3412C>G (p.Gln1138Glu)
c.3220C>G (p.Gln1074Glu)
1g.209615378G>TCA344581163LAMB3c.3412C>A (p.Gln1138Lys)
c.3220C>A (p.Gln1074Lys)
1g.209615379G>ACA1374866LAMB3c.3411C>T (p.Ser1137=)
c.3219C>T (p.Ser1073=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209615379G>CCA344581170LAMB3c.3411C>G (p.Ser1137Arg)
c.3219C>G (p.Ser1073Arg)
 gnomAD v4
1g.209615379G=CA2484295020LAMB3c.3411C= (p.Ser1137=)
c.3219C= (p.Ser1073=)
1g.209615379G>TCA344581172LAMB3c.3411C>A (p.Ser1137Arg)
c.3219C>A (p.Ser1073Arg)
 dbSNP gnomAD v4
1g.209615380C>ACA344581175LAMB3c.3410G>T (p.Ser1137Ile)
c.3218G>T (p.Ser1073Ile)
 gnomAD v4 COSMIC
1g.209615380C>GCA344581177LAMB3c.3410G>C (p.Ser1137Thr)
c.3218G>C (p.Ser1073Thr)
1g.209615380C>TCA344581178LAMB3c.3410G>A (p.Ser1137Asn)
c.3218G>A (p.Ser1073Asn)
 gnomAD v4
1g.209615380_209615409delCA2747561639LAMB3c.3383-2_3410del
c.3191-2_3218del
1g.209615381T>ACA344581181LAMB3c.3409A>T (p.Ser1137Cys)
c.3217A>T (p.Ser1073Cys)
1g.209615381T>CCA344581183LAMB3c.3409A>G (p.Ser1137Gly)
c.3217A>G (p.Ser1073Gly)
1g.209615381T>GCA344581184LAMB3c.3409A>C (p.Ser1137Arg)
c.3217A>C (p.Ser1073Arg)
1g.209615382G>ACA423028246LAMB3c.3408C>T (p.Gly1136=)
c.3216C>T (p.Gly1072=)
 ClinVar dbSNP gnomAD v4
1g.209615382G>CCA423028247LAMB3c.3408C>G (p.Gly1136=)
c.3216C>G (p.Gly1072=)
1g.209615382G>TCA423028248LAMB3c.3408C>A (p.Gly1136=)
c.3216C>A (p.Gly1072=)
1g.209615383C>ACA344581187LAMB3c.3407G>T (p.Gly1136Val)
c.3215G>T (p.Gly1072Val)
 gnomAD v4
1g.209615383C=CA2484295021LAMB3c.3407G= (p.Gly1136=)
c.3215G= (p.Gly1072=)
1g.209615383C>GCA344581188LAMB3c.3407G>C (p.Gly1136Ala)
c.3215G>C (p.Gly1072Ala)
1g.209615383C>TCA1374867LAMB3c.3407G>A (p.Gly1136Asp)
c.3215G>A (p.Gly1072Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209615384C>ACA344581196LAMB3c.3406G>T (p.Gly1136Cys)
c.3214G>T (p.Gly1072Cys)
 gnomAD v4
1g.209615384C>GCA344581191LAMB3c.3406G>C (p.Gly1136Arg)
c.3214G>C (p.Gly1072Arg)
1g.209615384C>TCA344581189LAMB3c.3406G>A (p.Gly1136Ser)
c.3214G>A (p.Gly1072Ser)
1g.209615385C>ACA423028250LAMB3c.3405G>T (p.Arg1135=)
c.3213G>T (p.Arg1071=)
1g.209615385C>GCA423028251LAMB3c.3405G>C (p.Arg1135=)
c.3213G>C (p.Arg1071=)
 gnomAD v4
1g.209615385C>TCA423028252LAMB3c.3405G>A (p.Arg1135=)
c.3213G>A (p.Arg1071=)
 gnomAD v4
1g.209615386C>ACA344581200LAMB3c.3404G>T (p.Arg1135Leu)
c.3212G>T (p.Arg1071Leu)
1g.209615386C=CA1141484204LAMB3c.3404G= (p.Arg1135=)
c.3212G= (p.Arg1071=)
1g.209615386C>GCA344581203LAMB3c.3404G>C (p.Arg1135Pro)
c.3212G>C (p.Arg1071Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.209615386C>TCA1374868LAMB3c.3404G>A (p.Arg1135Gln)
c.3212G>A (p.Arg1071Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209615387G>ACA1374869LAMB3c.3403C>T (p.Arg1135Trp)
c.3211C>T (p.Arg1071Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209615387G>CCA344581209LAMB3c.3403C>G (p.Arg1135Gly)
c.3211C>G (p.Arg1071Gly)
1g.209615387G=CA1143899956LAMB3c.3403C= (p.Arg1135=)
c.3211C= (p.Arg1071=)
1g.209615387G>TCA423028253LAMB3c.3403C>A (p.Arg1135=)
c.3211C>A (p.Arg1071=)
1g.209615388C>ACA423028254LAMB3c.3402G>T (p.Leu1134=)
c.3210G>T (p.Leu1070=)
1g.209615388C=CA2484295022LAMB3c.3402G= (p.Leu1134=)
c.3210G= (p.Leu1070=)
1g.209615388C>GCA423028255LAMB3c.3402G>C (p.Leu1134=)
c.3210G>C (p.Leu1070=)
1g.209615388C>TCA423028256LAMB3c.3402G>A (p.Leu1134=)
c.3210G>A (p.Leu1070=)
 dbSNP gnomAD v3 gnomAD v4
1g.209615389A=CA2484295023LAMB3c.3401T= (p.Leu1134=)
c.3209T= (p.Leu1070=)
1g.209615389A>CCA36743052LAMB3c.3401T>G (p.Leu1134Arg)
c.3209T>G (p.Leu1070Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209615389A>GCA344581216LAMB3c.3401T>C (p.Leu1134Pro)
c.3209T>C (p.Leu1070Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.209615389A>TCA344581225LAMB3c.3401T>A (p.Leu1134Gln)
c.3209T>A (p.Leu1070Gln)
1g.209615390G>ACA423028258LAMB3c.3400C>T (p.Leu1134=)
c.3208C>T (p.Leu1070=)
 gnomAD v4
1g.209615390G>CCA344581227LAMB3c.3400C>G (p.Leu1134Val)
c.3208C>G (p.Leu1070Val)
 dbSNP gnomAD v2 gnomAD v4
1g.209615390G=CA2484295024LAMB3c.3400C= (p.Leu1134=)
c.3208C= (p.Leu1070=)
1g.209615390G>TCA344581230LAMB3c.3400C>A (p.Leu1134Met)
c.3208C>A (p.Leu1070Met)
1g.209615391C>ACA423028261LAMB3c.3399G>T (p.Leu1133=)
c.3207G>T (p.Leu1069=)
 ClinVar dbSNP gnomAD v4
1g.209615391C>GCA423028259LAMB3c.3399G>C (p.Leu1133=)
c.3207G>C (p.Leu1069=)
1g.209615391C>TCA423028260LAMB3c.3399G>A (p.Leu1133=)
c.3207G>A (p.Leu1069=)
1g.209615392A>CCA344581233LAMB3c.3398T>G (p.Leu1133Arg)
c.3206T>G (p.Leu1069Arg)
1g.209615392A>GCA344581236LAMB3c.3398T>C (p.Leu1133Pro)
c.3206T>C (p.Leu1069Pro)
1g.209615392A>TCA344581240LAMB3c.3398T>A (p.Leu1133Gln)
c.3206T>A (p.Leu1069Gln)
1g.209615393G>ACA423028262LAMB3c.3397C>T (p.Leu1133=)
c.3205C>T (p.Leu1069=)
 gnomAD v4
1g.209615393G>CCA344581248LAMB3c.3397C>G (p.Leu1133Val)
c.3205C>G (p.Leu1069Val)
1g.209615393G>TCA344581244LAMB3c.3397C>A (p.Leu1133Met)
c.3205C>A (p.Leu1069Met)
1g.209615394C>ACA344581252LAMB3c.3396G>T (p.Glu1132Asp)
c.3204G>T (p.Glu1068Asp)
1g.209615394C>GCA344581255LAMB3c.3396G>C (p.Glu1132Asp)
c.3204G>C (p.Glu1068Asp)
1g.209615394C>TCA423028265LAMB3c.3396G>A (p.Glu1132=)
c.3204G>A (p.Glu1068=)
1g.209615395T>ACA344581258LAMB3c.3395A>T (p.Glu1132Val)
c.3203A>T (p.Glu1068Val)
1g.209615395T>CCA344581262LAMB3c.3395A>G (p.Glu1132Gly)
c.3203A>G (p.Glu1068Gly)
 dbSNP
1g.209615395T>GCA344581265LAMB3c.3395A>C (p.Glu1132Ala)
c.3203A>C (p.Glu1068Ala)
1g.209615395T=CA2484295025LAMB3c.3395A= (p.Glu1132=)
c.3203A= (p.Glu1068=)
1g.209615396C>ACA344581266LAMB3c.3394G>T (p.Glu1132Ter)
c.3202G>T (p.Glu1068Ter)
1g.209615396C>GCA344581267LAMB3c.3394G>C (p.Glu1132Gln)
c.3202G>C (p.Glu1068Gln)
1g.209615396C>TCA344581268LAMB3c.3394G>A (p.Glu1132Lys)
c.3202G>A (p.Glu1068Lys)
1g.209615397dupCA185943LAMB3c.3394dup (p.Glu1132GlyfsTer28)
c.3202dup (p.Glu1068GlyfsTer28)
 ClinVar dbSNP gnomAD v4
1g.209615397C>ACA344581270LAMB3c.3393G>T (p.Leu1131Phe)
c.3201G>T (p.Leu1067Phe)
 gnomAD v4
1g.209615397C=CA2484295026LAMB3c.3393G= (p.Leu1131=)
c.3201G= (p.Leu1067=)
1g.209615397C>GCA344581271LAMB3c.3393G>C (p.Leu1131Phe)
c.3201G>C (p.Leu1067Phe)
1g.209615397C>TCA423028266LAMB3c.3393G>A (p.Leu1131=)
c.3201G>A (p.Leu1067=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209615398A>CCA344581274LAMB3c.3392T>G (p.Leu1131Trp)
c.3200T>G (p.Leu1067Trp)
1g.209615398A>GCA344581280LAMB3c.3392T>C (p.Leu1131Ser)
c.3200T>C (p.Leu1067Ser)
1g.209615398A>TCA344581282LAMB3c.3392T>A (p.Leu1131Ter)
c.3200T>A (p.Leu1067Ter)
1g.209615399A=CA2484295027LAMB3c.3391T= (p.Leu1131=)
c.3199T= (p.Leu1067=)
1g.209615399A>CCA1374870LAMB3c.3391T>G (p.Leu1131Val)
c.3199T>G (p.Leu1067Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209615399A>GCA423028268LAMB3c.3391T>C (p.Leu1131=)
c.3199T>C (p.Leu1067=)
 dbSNP gnomAD v2 gnomAD v4
1g.209615399A>TCA344581287LAMB3c.3391T>A (p.Leu1131Met)
c.3199T>A (p.Leu1067Met)
1g.209615400C>ACA344581294LAMB3c.3390G>T (p.Glu1130Asp)
c.3198G>T (p.Glu1066Asp)
 gnomAD v4
1g.209615400C>GCA344581297LAMB3c.3390G>C (p.Glu1130Asp)
c.3198G>C (p.Glu1066Asp)
 gnomAD v4
1g.209615400C>TCA423028270LAMB3c.3390G>A (p.Glu1130=)
c.3198G>A (p.Glu1066=)
1g.209615401T>ACA344581301LAMB3c.3389A>T (p.Glu1130Val)
c.3197A>T (p.Glu1066Val)
1g.209615401T>CCA344581304LAMB3c.3389A>G (p.Glu1130Gly)
c.3197A>G (p.Glu1066Gly)
 gnomAD v4
1g.209615401T>GCA344581308LAMB3c.3389A>C (p.Glu1130Ala)
c.3197A>C (p.Glu1066Ala)
1g.209615402C>ACA344581320LAMB3c.3388G>T (p.Glu1130Ter)
c.3196G>T (p.Glu1066Ter)
1g.209615402C>GCA344581317LAMB3c.3388G>C (p.Glu1130Gln)
c.3196G>C (p.Glu1066Gln)
1g.209615402C>TCA344581315LAMB3c.3388G>A (p.Glu1130Lys)
c.3196G>A (p.Glu1066Lys)
1g.209615403C>ACA344581324LAMB3c.3387G>T (p.Met1129Ile)
c.3195G>T (p.Met1065Ile)
1g.209615403C=CA2484295028LAMB3c.3387G= (p.Met1129=)
c.3195G= (p.Met1065=)
1g.209615403C>GCA344581327LAMB3c.3387G>C (p.Met1129Ile)
c.3195G>C (p.Met1065Ile)
1g.209615403C>TCA344581330LAMB3c.3387G>A (p.Met1129Ile)
c.3195G>A (p.Met1065Ile)
 dbSNP gnomAD v2 COSMIC
1g.209615404A=CA2484295029LAMB3c.3386T= (p.Met1129=)
c.3194T= (p.Met1065=)
1g.209615404A>CCA344581334LAMB3c.3386T>G (p.Met1129Arg)
c.3194T>G (p.Met1065Arg)
1g.209615404A>GCA344581338LAMB3c.3386T>C (p.Met1129Thr)
c.3194T>C (p.Met1065Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.209615404A>TCA344581342LAMB3c.3386T>A (p.Met1129Lys)
c.3194T>A (p.Met1065Lys)
1g.209615405T>ACA344581347LAMB3c.3385A>T (p.Met1129Leu)
c.3193A>T (p.Met1065Leu)
 dbSNP gnomAD v4
1g.209615405T>CCA344581351LAMB3c.3385A>G (p.Met1129Val)
c.3193A>G (p.Met1065Val)
1g.209615405T>GCA344581349LAMB3c.3385A>C (p.Met1129Leu)
c.3193A>C (p.Met1065Leu)
1g.209615405T=CA2484295030LAMB3c.3385A= (p.Met1129=)
c.3193A= (p.Met1065=)
1g.209615406G>ACA423028272LAMB3c.3384C>T (p.Asp1128=)
c.3192C>T (p.Asp1064=)
1g.209615406G>CCA344581355LAMB3c.3384C>G (p.Asp1128Glu)
c.3192C>G (p.Asp1064Glu)
1g.209615406G>TCA344581358LAMB3c.3384C>A (p.Asp1128Glu)
c.3192C>A (p.Asp1064Glu)
 gnomAD v4
1g.209615407T>ACA344581362LAMB3c.3383A>T (p.Asp1128Val)
c.3191A>T (p.Asp1064Val)
1g.209615407T>CCA344581365LAMB3c.3383A>G (p.Asp1128Gly)
c.3191A>G (p.Asp1064Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.209615407T>GCA344581369LAMB3c.3383A>C (p.Asp1128Ala)
c.3191A>C (p.Asp1064Ala)
1g.209615407T=CA2484295031LAMB3c.3383A= (p.Asp1128=)
c.3191A= (p.Asp1064=)
1g.209615408C>ACA344581372LAMB3c.3383-1G>T (n.3383-1G>T)
c.3191-1G>T (n.3191-1G>T)
 gnomAD v4
1g.209615408C=CA2484295032LAMB3c.3383-1G= (n.3383-1G=)
c.3191-1G= (n.3191-1G=)
1g.209615408C>GCA344581374LAMB3c.3383-1G>C (n.3383-1G>C)
c.3191-1G>C (n.3191-1G>C)
1g.209615408C>TCA344581377LAMB3c.3383-1G>A (n.3383-1G>A)
c.3191-1G>A (n.3191-1G>A)
 ClinVar dbSNP
1g.209615409T>ACA344581381LAMB3c.3383-2A>T (n.3383-2A>T)
c.3191-2A>T (n.3191-2A>T)
1g.209615409T>CCA344581384LAMB3c.3383-2A>G (n.3383-2A>G)
c.3191-2A>G (n.3191-2A>G)
1g.209615409T>GCA344581387LAMB3c.3383-2A>C (n.3383-2A>C)
c.3191-2A>C (n.3191-2A>C)
1g.209615409_209615410insTTCATCCTGTCCATCATCTCCATGGTCTCCCCAAACACA2697963295LAMB3c.3383-3_3383-2insTGTTTGGGGAGACCATGGAGATGATGGACAGGATGAA (n.3383-3_3383-2insTGTTTGGGGAGACCATGGAGATGATGGACAGGATGAA)
c.3191-3_3191-2insTGTTTGGGGAGACCATGGAGATGATGGACAGGATGAA (n.3191-3_3191-2insTGTTTGGGGAGACCATGGAGATGATGGACAGGATGAA)
 dbSNP
1g.209615410G>CCA36743059LAMB3c.3383-3C>G (n.3383-3C>G)
c.3191-3C>G (n.3191-3C>G)
 dbSNP
1g.209615410G=CA1141300283LAMB3c.3383-3C= (n.3383-3C=)
c.3191-3C= (n.3191-3C=)
1g.209615410G>TCA36743061LAMB3c.3383-3C>A (n.3383-3C>A)
c.3191-3C>A (n.3191-3C>A)
 dbSNP
1g.209615412G>ACA528652371LAMB3c.3383-5C>T (n.3383-5C>T)
c.3191-5C>T (n.3191-5C>T)
 dbSNP gnomAD v2
1g.209615412G=CA2484295033LAMB3c.3383-5C= (n.3383-5C=)
c.3191-5C= (n.3191-5C=)
1g.209615412G>TCA2650319517LAMB3c.3383-5C>A (n.3383-5C>A)
c.3191-5C>A (n.3191-5C>A)
 gnomAD v4
1g.209615413G>ACA2484295035LAMB3c.3383-6C>T (n.3383-6C>T)
c.3191-6C>T (n.3191-6C>T)
 dbSNP gnomAD v4
1g.209615413G=CA2484295034LAMB3c.3383-6C= (n.3383-6C=)
c.3191-6C= (n.3191-6C=)
1g.209615413G>TCA2650319520LAMB3c.3383-6C>A (n.3383-6C>A)
c.3191-6C>A (n.3191-6C>A)
 gnomAD v4
1g.209615414C>ACA2650319521LAMB3c.3383-7G>T (n.3383-7G>T)
c.3191-7G>T (n.3191-7G>T)
 gnomAD v4
1g.209615417delCA2650319522LAMB3c.3383-8del (n.3383-8del)
c.3191-8del (n.3191-8del)
 gnomAD v4
1g.209615416A=CA2484295036LAMB3c.3383-9T= (n.3383-9T=)
c.3191-9T= (n.3191-9T=)
1g.209615416A>CCA2484295037LAMB3c.3383-9T>G (n.3383-9T>G)
c.3191-9T>G (n.3191-9T>G)
 dbSNP
1g.209615418T>ACA2650319524LAMB3c.3383-11A>T (n.3383-11A>T)
c.3191-11A>T (n.3191-11A>T)
 gnomAD v4
1g.209615418T>CCA2650319525LAMB3c.3383-11A>G (n.3383-11A>G)
c.3191-11A>G (n.3191-11A>G)
 gnomAD v4
1g.209615420G>CCA2650319526LAMB3c.3383-13C>G (n.3383-13C>G)
c.3191-13C>G (n.3191-13C>G)
 gnomAD v4
1g.209615421A=CA2484295038LAMB3c.3383-14T= (n.3383-14T=)
c.3191-14T= (n.3191-14T=)
1g.209615421A>CCA2484295039LAMB3c.3383-14T>G (n.3383-14T>G)
c.3191-14T>G (n.3191-14T>G)
 dbSNP
1g.209615422A=CA2484295040LAMB3c.3383-15T= (n.3383-15T=)
c.3191-15T= (n.3191-15T=)
1g.209615422A>CCA1011766066LAMB3c.3383-15T>G (n.3383-15T>G)
c.3191-15T>G (n.3191-15T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.209615422A>GCA2650319527LAMB3c.3383-15T>C (n.3383-15T>C)
c.3191-15T>C (n.3191-15T>C)
 ClinVar gnomAD v4
1g.209615423C>ACA2484295042LAMB3c.3383-16G>T (n.3383-16G>T)
c.3191-16G>T (n.3191-16G>T)
 dbSNP gnomAD v4
1g.209615423C=CA2484295041LAMB3c.3383-16G= (n.3383-16G=)
c.3191-16G= (n.3191-16G=)
1g.209615423C>GCA2747561640LAMB3c.3383-16G>C (n.3383-16G>C)
c.3191-16G>C (n.3191-16G>C)
1g.209615423C>TCA1011766067LAMB3c.3383-16G>A (n.3383-16G>A)
c.3191-16G>A (n.3191-16G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209615424A>GCA2650319530LAMB3c.3383-17T>C (n.3383-17T>C)
c.3191-17T>C (n.3191-17T>C)
 gnomAD v4
1g.209615425G>ACA528652372LAMB3c.3383-18C>T (n.3383-18C>T)
c.3191-18C>T (n.3191-18C>T)
 dbSNP gnomAD v2
1g.209615425G=CA2484295043LAMB3c.3383-18C= (n.3383-18C=)
c.3191-18C= (n.3191-18C=)
1g.209615425G>TCA2650319532LAMB3c.3383-18C>A (n.3383-18C>A)
c.3191-18C>A (n.3191-18C>A)
 gnomAD v4
1g.209615426C>ACA2650319533LAMB3c.3383-19G>T (n.3383-19G>T)
c.3191-19G>T (n.3191-19G>T)
 gnomAD v4
1g.209615428G>CCA2650319534LAMB3c.3383-21C>G (n.3383-21C>G)
c.3191-21C>G (n.3191-21C>G)
 gnomAD v4
1g.209615429C>ACA2650319536LAMB3c.3383-22G>T (n.3383-22G>T)
c.3191-22G>T (n.3191-22G>T)
 gnomAD v4
1g.209615429C>GCA646385711LAMB3c.3383-22G>C (n.3383-22G>C)
c.3191-22G>C (n.3191-22G>C)
 COSMIC
1g.209615429C>TCA2650319537LAMB3c.3383-22G>A (n.3383-22G>A)
c.3191-22G>A (n.3191-22G>A)
 gnomAD v4
1g.209615429_209615432delinsCAGGCA2484295044LAMB3c.3383-25_3383-22delinsCCTG (n.3383-25_3383-22delinsCCTG)
c.3191-25_3191-22delinsCCTG (n.3191-25_3191-22delinsCCTG)
1g.209615430A>GCA2650319541LAMB3c.3383-23T>C (n.3383-23T>C)
c.3191-23T>C (n.3191-23T>C)
 gnomAD v4
1g.209615438_209615440delCA730844659LAMB3c.3383-25_3383-23del (n.3383-25_3383-23del)
c.3191-25_3191-23del (n.3191-25_3191-23del)
 dbSNP gnomAD v3 gnomAD v4
1g.209615431G>ACA2573997146LAMB3c.3383-24C>T (n.3383-24C>T)
c.3191-24C>T (n.3191-24C>T)
 gnomAD v4
1g.209615432G>ACA2650319542LAMB3c.3383-25C>T (n.3383-25C>T)
c.3191-25C>T (n.3191-25C>T)
 gnomAD v4
1g.209615432G>CCA2697963301LAMB3c.3383-25C>G (n.3383-25C>G)
c.3191-25C>G (n.3191-25C>G)
 dbSNP
1g.209615433A=CA2484295045LAMB3c.3383-26T= (n.3383-26T=)
c.3191-26T= (n.3191-26T=)
1g.209615433A>GCA1374871LAMB3c.3383-26T>C (n.3383-26T>C)
c.3191-26T>C (n.3191-26T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209615433A>TCA2573997148LAMB3c.3383-26T>A (n.3383-26T>A)
c.3191-26T>A (n.3191-26T>A)
 gnomAD v4
1g.209615434G>ACA2650319548LAMB3c.3383-27C>T (n.3383-27C>T)
c.3191-27C>T (n.3191-27C>T)
 gnomAD v4
1g.209615434G>TCA2650319546LAMB3c.3383-27C>A (n.3383-27C>A)
c.3191-27C>A (n.3191-27C>A)
 gnomAD v4
1g.209615435G>TCA2650319549LAMB3c.3383-28C>A (n.3383-28C>A)
c.3191-28C>A (n.3191-28C>A)
 gnomAD v4
1g.209615436A=CA2484295046LAMB3c.3383-29T= (n.3383-29T=)
c.3191-29T= (n.3191-29T=)
1g.209615436A>GCA730844663LAMB3c.3383-29T>C (n.3383-29T>C)
c.3191-29T>C (n.3191-29T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.209615437G>ACA528652373LAMB3c.3383-30C>T (n.3383-30C>T)
c.3191-30C>T (n.3191-30C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.209615437G>CCA2650319551LAMB3c.3383-30C>G (n.3383-30C>G)
c.3191-30C>G (n.3191-30C>G)
 gnomAD v4
1g.209615437G=CA2484295047LAMB3c.3383-30C= (n.3383-30C=)
c.3191-30C= (n.3191-30C=)
1g.209615437G>TCA528652374LAMB3c.3383-30C>A (n.3383-30C>A)
c.3191-30C>A (n.3191-30C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.209615438G>ACA1011766068LAMB3c.3383-31C>T (n.3383-31C>T)
c.3191-31C>T (n.3191-31C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.209615438G=CA2484295048LAMB3c.3383-31C= (n.3383-31C=)
c.3191-31C= (n.3191-31C=)
1g.209615438G>TCA2650319553LAMB3c.3383-31C>A (n.3383-31C>A)
c.3191-31C>A (n.3191-31C>A)
 gnomAD v4
1g.209615439A>GCA2650319555LAMB3c.3383-32T>C (n.3383-32T>C)
c.3191-32T>C (n.3191-32T>C)
 gnomAD v4
1g.209615440G>ACA2573997155LAMB3c.3383-33C>T (n.3383-33C>T)
c.3191-33C>T (n.3191-33C>T)
1g.209615440G>TCA2650319557LAMB3c.3383-33C>A (n.3383-33C>A)
c.3191-33C>A (n.3191-33C>A)
 gnomAD v4
1g.209615442T>CCA36743078LAMB3c.3383-35A>G (n.3383-35A>G)
c.3191-35A>G (n.3191-35A>G)
 dbSNP gnomAD v4
1g.209615442T=CA2484295049LAMB3c.3383-35A= (n.3383-35A=)
c.3191-35A= (n.3191-35A=)
1g.209615443G>ACA2747561641LAMB3c.3383-36C>T (n.3383-36C>T)
c.3191-36C>T (n.3191-36C>T)
1g.209615443G>TCA2650319560LAMB3c.3383-36C>A (n.3383-36C>A)
c.3191-36C>A (n.3191-36C>A)
 gnomAD v4
1g.209615445T>CCA2607036450LAMB3c.3383-38A>G (n.3383-38A>G)
c.3191-38A>G (n.3191-38A>G)
 gnomAD v3 gnomAD v4
1g.209615446G>ACA2484295051LAMB3c.3383-39C>T (n.3383-39C>T)
c.3191-39C>T (n.3191-39C>T)
 dbSNP gnomAD v4
1g.209615446G=CA2484295050LAMB3c.3383-39C= (n.3383-39C=)
c.3191-39C= (n.3191-39C=)
1g.209615447G>ACA528652375LAMB3c.3383-40C>T (n.3383-40C>T)
c.3191-40C>T (n.3191-40C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.209615447G=CA2484295052LAMB3c.3383-40C= (n.3383-40C=)
c.3191-40C= (n.3191-40C=)
1g.209615447G>TCA2650319566LAMB3c.3383-40C>A (n.3383-40C>A)
c.3191-40C>A (n.3191-40C>A)
 gnomAD v4
1g.209615448T>CCA1374872LAMB3c.3383-41A>G (n.3383-41A>G)
c.3191-41A>G (n.3191-41A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209615448T=CA2484295053LAMB3c.3383-41A= (n.3383-41A=)
c.3191-41A= (n.3191-41A=)
1g.209615449G>ACA1374873LAMB3c.3383-42C>T (n.3383-42C>T)
c.3191-42C>T (n.3191-42C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209615449G=CA1144318010LAMB3c.3383-42C= (n.3383-42C=)
c.3191-42C= (n.3191-42C=)
1g.209615449G>TCA2650319576LAMB3c.3383-42C>A (n.3383-42C>A)
c.3191-42C>A (n.3191-42C>A)
 gnomAD v4
1g.209615458_209615467delCA2650319578LAMB3c.3383-52_3383-43del (n.3383-52_3383-43del)
c.3191-52_3191-43del (n.3191-52_3191-43del)
 gnomAD v4
1g.209615451G>ACA1374874LAMB3c.3383-44C>T (n.3383-44C>T)
c.3191-44C>T (n.3191-44C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209615451G=CA1145703272LAMB3c.3383-44C= (n.3383-44C=)
c.3191-44C= (n.3191-44C=)
1g.209615451G>TCA2650319579LAMB3c.3383-44C>A (n.3383-44C>A)
c.3191-44C>A (n.3191-44C>A)
 gnomAD v4
1g.209615452A>GCA2650319580LAMB3c.3383-45T>C (n.3383-45T>C)
c.3191-45T>C (n.3191-45T>C)
 gnomAD v4
1g.209615452A>TCA2650319581LAMB3c.3383-45T>A (n.3383-45T>A)
c.3191-45T>A (n.3191-45T>A)
 gnomAD v4
1g.209615453C>TCA2650319582LAMB3c.3383-46G>A (n.3383-46G>A)
c.3191-46G>A (n.3191-46G>A)
 gnomAD v4
1g.209615454T>CCA730844682LAMB3c.3383-47A>G (n.3383-47A>G)
c.3191-47A>G (n.3191-47A>G)
 dbSNP gnomAD v4
1g.209615454T=CA2484295054LAMB3c.3383-47A= (n.3383-47A=)
c.3191-47A= (n.3191-47A=)
1g.209615455C=CA2484295055LAMB3c.3383-48G= (n.3383-48G=)
c.3191-48G= (n.3191-48G=)
1g.209615455C>TCA1374875LAMB3c.3383-48G>A (n.3383-48G>A)
c.3191-48G>A (n.3191-48G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209615458dupCA2650319586LAMB3c.3383-48dup (n.3383-48dup)
c.3191-48dup (n.3191-48dup)
 gnomAD v4
1g.209615458delCA2650319587LAMB3c.3383-48del (n.3383-48del)
c.3191-48del (n.3191-48del)
 gnomAD v4
1g.209615456C>ACA2650319592LAMB3c.3383-49G>T (n.3383-49G>T)
c.3191-49G>T (n.3191-49G>T)
 gnomAD v4
1g.209615456C=CA1143365316LAMB3c.3383-49G= (n.3383-49G=)
c.3191-49G= (n.3191-49G=)
1g.209615456C>TCA1374876LAMB3c.3383-49G>A (n.3383-49G>A)
c.3191-49G>A (n.3191-49G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209615457C>ACA528652376LAMB3c.3383-50G>T (n.3383-50G>T)
c.3191-50G>T (n.3191-50G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.209615457C=CA2484295056LAMB3c.3383-50G= (n.3383-50G=)
c.3191-50G= (n.3191-50G=)

Number of alleles fetched