Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.209626868T>ACA423031189LAMB3c.1596A>T (p.Arg532=)
c.1404A>T (p.Arg468=)
1g.209626868T>CCA423031188LAMB3c.1596A>G (p.Arg532=)
c.1404A>G (p.Arg468=)
1g.209626868T>GCA423031187LAMB3c.1596A>C (p.Arg532=)
c.1404A>C (p.Arg468=)
1g.209626869C>ACA344590053LAMB3c.1595G>T (p.Arg532Leu)
c.1403G>T (p.Arg468Leu)
 gnomAD v4
1g.209626869C=CA1149043432LAMB3c.1595G= (p.Arg532=)
c.1403G= (p.Arg468=)
1g.209626869C>GCA344590052LAMB3c.1595G>C (p.Arg532Pro)
c.1403G>C (p.Arg468Pro)
1g.209626869C>TCA1375538LAMB3c.1595G>A (p.Arg532Gln)
c.1403G>A (p.Arg468Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626870G>ACA36756919LAMB3c.1594C>T (p.Arg532Ter)
c.1402C>T (p.Arg468Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209626870G>CCA344590054LAMB3c.1594C>G (p.Arg532Gly)
c.1402C>G (p.Arg468Gly)
 gnomAD v4
1g.209626870G=CA2484299666LAMB3c.1594C= (p.Arg532=)
c.1402C= (p.Arg468=)
1g.209626870G>TCA423031191LAMB3c.1594C>A (p.Arg532=)
c.1402C>A (p.Arg468=)
 gnomAD v4
1g.209626871G>ACA423031192LAMB3c.1593C>T (p.Cys531=)
c.1401C>T (p.Cys467=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209626871G>CCA344590055LAMB3c.1593C>G (p.Cys531Trp)
c.1401C>G (p.Cys467Trp)
1g.209626871G=CA2484299667LAMB3c.1593C= (p.Cys531=)
c.1401C= (p.Cys467=)
1g.209626871G>TCA344590056LAMB3c.1593C>A (p.Cys531Ter)
c.1401C>A (p.Cys467Ter)
 ClinVar gnomAD v4
1g.209626872C>ACA10608979LAMB3c.1592G>T (p.Cys531Phe)
c.1400G>T (p.Cys467Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209626872C=CA2484299668LAMB3c.1592G= (p.Cys531=)
c.1400G= (p.Cys467=)
1g.209626872C>GCA344590057LAMB3c.1592G>C (p.Cys531Ser)
c.1400G>C (p.Cys467Ser)
1g.209626872C>TCA344590058LAMB3c.1592G>A (p.Cys531Tyr)
c.1400G>A (p.Cys467Tyr)
1g.209626873A>CCA344590059LAMB3c.1591T>G (p.Cys531Gly)
c.1399T>G (p.Cys467Gly)
 gnomAD v4
1g.209626873A>GCA344590060LAMB3c.1591T>C (p.Cys531Arg)
c.1399T>C (p.Cys467Arg)
1g.209626873A>TCA344590061LAMB3c.1591T>A (p.Cys531Ser)
c.1399T>A (p.Cys467Ser)
1g.209626874T>ACA423031193LAMB3c.1590A>T (p.Gly530=)
c.1398A>T (p.Gly466=)
1g.209626874T>CCA423031195LAMB3c.1590A>G (p.Gly530=)
c.1398A>G (p.Gly466=)
1g.209626874T>GCA423031197LAMB3c.1590A>C (p.Gly530=)
c.1398A>C (p.Gly466=)
1g.209626875C>ACA344590062LAMB3c.1589G>T (p.Gly530Val)
c.1397G>T (p.Gly466Val)
1g.209626875C>GCA344590063LAMB3c.1589G>C (p.Gly530Ala)
c.1397G>C (p.Gly466Ala)
1g.209626875C>TCA344590064LAMB3c.1589G>A (p.Gly530Glu)
c.1397G>A (p.Gly466Glu)
1g.209626876delCA2586964560LAMB3c.1589del (p.Gly530AspfsTer30)
c.1397del (p.Gly466AspfsTer30)
1g.209626875_209626877delinsCCTCA2484299669LAMB3c.1587_1589delinsAGG (p.Thr529=)
c.1395_1397delinsAGG (p.Thr465=)
1g.209626876C>ACA344590067LAMB3c.1588G>T (p.Gly530Ter)
c.1396G>T (p.Gly466Ter)
1g.209626876C=CA2484299670LAMB3c.1588G= (p.Gly530=)
c.1396G= (p.Gly466=)
1g.209626876C>GCA344590066LAMB3c.1588G>C (p.Gly530Arg)
c.1396G>C (p.Gly466Arg)
1g.209626876C>TCA344590065LAMB3c.1588G>A (p.Gly530Arg)
c.1396G>A (p.Gly466Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209626876_209626877delCA257283LAMB3c.1587_1588del (p.Gly530MetfsTer5)
c.1395_1396del (p.Gly466MetfsTer5)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626877T>ACA423031199LAMB3c.1587A>T (p.Thr529=)
c.1395A>T (p.Thr465=)
1g.209626877T>CCA423031200LAMB3c.1587A>G (p.Thr529=)
c.1395A>G (p.Thr465=)
 ClinVar dbSNP
1g.209626877T>GCA423031201LAMB3c.1587A>C (p.Thr529=)
c.1395A>C (p.Thr465=)
1g.209626878G>ACA1375539LAMB3c.1586C>T (p.Thr529Ile)
c.1394C>T (p.Thr465Ile)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
1g.209626878G>CCA344590068LAMB3c.1586C>G (p.Thr529Arg)
c.1394C>G (p.Thr465Arg)
1g.209626878G=CA2484299671LAMB3c.1586C= (p.Thr529=)
c.1394C= (p.Thr465=)
1g.209626878G>TCA344590069LAMB3c.1586C>A (p.Thr529Lys)
c.1394C>A (p.Thr465Lys)
1g.209626879T>ACA344590070LAMB3c.1585A>T (p.Thr529Ser)
c.1393A>T (p.Thr465Ser)
1g.209626879T>CCA344590071LAMB3c.1585A>G (p.Thr529Ala)
c.1393A>G (p.Thr465Ala)
 gnomAD v4
1g.209626879T>GCA344590072LAMB3c.1585A>C (p.Thr529Pro)
c.1393A>C (p.Thr465Pro)
1g.209626880G>ACA423031202LAMB3c.1584C>T (p.Ala528=)
c.1392C>T (p.Ala464=)
1g.209626880G>CCA423031203LAMB3c.1584C>G (p.Ala528=)
c.1392C>G (p.Ala464=)
1g.209626880G>TCA423031204LAMB3c.1584C>A (p.Ala528=)
c.1392C>A (p.Ala464=)
1g.209626881G>ACA344590073LAMB3c.1583C>T (p.Ala528Val)
c.1391C>T (p.Ala464Val)
1g.209626881G>CCA344590074LAMB3c.1583C>G (p.Ala528Gly)
c.1391C>G (p.Ala464Gly)
1g.209626881G>TCA344590075LAMB3c.1583C>A (p.Ala528Asp)
c.1391C>A (p.Ala464Asp)
1g.209626882C>ACA344590076LAMB3c.1582G>T (p.Ala528Ser)
c.1390G>T (p.Ala464Ser)
 COSMIC
1g.209626882C=CA2484299672LAMB3c.1582G= (p.Ala528=)
c.1390G= (p.Ala464=)
1g.209626882C>GCA344590077LAMB3c.1582G>C (p.Ala528Pro)
c.1390G>C (p.Ala464Pro)
1g.209626882C>TCA344590078LAMB3c.1582G>A (p.Ala528Thr)
c.1390G>A (p.Ala464Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.209626883C>ACA423031210LAMB3c.1581G>T (p.Val527=)
c.1389G>T (p.Val463=)
1g.209626883C>GCA423031214LAMB3c.1581G>C (p.Val527=)
c.1389G>C (p.Val463=)
1g.209626883C>TCA423031215LAMB3c.1581G>A (p.Val527=)
c.1389G>A (p.Val463=)
1g.209626884A=CA2484299673LAMB3c.1580T= (p.Val527=)
c.1388T= (p.Val463=)
1g.209626884A>CCA344590081LAMB3c.1580T>G (p.Val527Gly)
c.1388T>G (p.Val463Gly)
1g.209626884A>GCA344590080LAMB3c.1580T>C (p.Val527Ala)
c.1388T>C (p.Val463Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.209626884A>TCA344590079LAMB3c.1580T>A (p.Val527Glu)
c.1388T>A (p.Val463Glu)
1g.209626885C>ACA344590083LAMB3c.1579G>T (p.Val527Leu)
c.1387G>T (p.Val463Leu)
1g.209626885C=CA1139912089LAMB3c.1579G= (p.Val527=)
c.1387G= (p.Val463=)
1g.209626885C>GCA344590082LAMB3c.1579G>C (p.Val527Leu)
c.1387G>C (p.Val463Leu)
1g.209626885C>TCA1375540LAMB3c.1579G>A (p.Val527Met)
c.1387G>A (p.Val463Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626886G>ACA1375541LAMB3c.1578C>T (p.Asp526=)
c.1386C>T (p.Asp462=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626886G>CCA344590084LAMB3c.1578C>G (p.Asp526Glu)
c.1386C>G (p.Asp462Glu)
 gnomAD v4
1g.209626886G=CA1147275104LAMB3c.1578C= (p.Asp526=)
c.1386C= (p.Asp462=)
1g.209626886G>TCA36756929LAMB3c.1578C>A (p.Asp526Glu)
c.1386C>A (p.Asp462Glu)
 dbSNP
1g.209626887T>ACA344590087LAMB3c.1577A>T (p.Asp526Val)
c.1385A>T (p.Asp462Val)
1g.209626887T>CCA344590086LAMB3c.1577A>G (p.Asp526Gly)
c.1385A>G (p.Asp462Gly)
1g.209626887T>GCA344590085LAMB3c.1577A>C (p.Asp526Ala)
c.1385A>C (p.Asp462Ala)
1g.209626888C>ACA344590088LAMB3c.1576G>T (p.Asp526Tyr)
c.1384G>T (p.Asp462Tyr)
1g.209626888C>GCA344590089LAMB3c.1576G>C (p.Asp526His)
c.1384G>C (p.Asp462His)
1g.209626888C>TCA344590090LAMB3c.1576G>A (p.Asp526Asn)
c.1384G>A (p.Asp462Asn)
 dbSNP gnomAD v4
1g.209626889T>ACA423031219LAMB3c.1575A>T (p.Gly525=)
c.1383A>T (p.Gly461=)
1g.209626889T>CCA423031218LAMB3c.1575A>G (p.Gly525=)
c.1383A>G (p.Gly461=)
1g.209626889T>GCA423031217LAMB3c.1575A>C (p.Gly525=)
c.1383A>C (p.Gly461=)
1g.209626890C>ACA344590091LAMB3c.1574G>T (p.Gly525Val)
c.1382G>T (p.Gly461Val)
1g.209626890C=CA2484299674LAMB3c.1574G= (p.Gly525=)
c.1382G= (p.Gly461=)
1g.209626890C>GCA1375542LAMB3c.1574G>C (p.Gly525Ala)
c.1382G>C (p.Gly461Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626890C>TCA344590092LAMB3c.1574G>A (p.Gly525Glu)
c.1382G>A (p.Gly461Glu)
1g.209626890_209626902delinsCCATAGGTCCGGTCA2484299675LAMB3c.1562_1574delinsACCGGACCTATGG (p.Asp521=)
c.1370_1382delinsACCGGACCTATGG (p.Asp457=)
1g.209626891C>ACA344590093LAMB3c.1573G>T (p.Gly525Ter)
c.1381G>T (p.Gly461Ter)
1g.209626891C>GCA344590095LAMB3c.1573G>C (p.Gly525Arg)
c.1381G>C (p.Gly461Arg)
1g.209626891C>TCA344590094LAMB3c.1573G>A (p.Gly525Arg)
c.1381G>A (p.Gly461Arg)
 gnomAD v4
1g.209626892_209626903delCA730829405LAMB3c.1562_1573del (p.Asp521_Tyr524del)
c.1370_1381del (p.Asp457_Tyr460del)
 dbSNP gnomAD v3 gnomAD v4
1g.209626892A>CCA344590096LAMB3c.1572T>G (p.Tyr524Ter)
c.1380T>G (p.Tyr460Ter)
1g.209626892A>GCA423031220LAMB3c.1572T>C (p.Tyr524=)
c.1380T>C (p.Tyr460=)
 ClinVar dbSNP gnomAD v4
1g.209626892A>TCA344590097LAMB3c.1572T>A (p.Tyr524Ter)
c.1380T>A (p.Tyr460Ter)
1g.209626893T>ACA344590098LAMB3c.1571A>T (p.Tyr524Phe)
c.1379A>T (p.Tyr460Phe)
1g.209626893T>CCA1375543LAMB3c.1571A>G (p.Tyr524Cys)
c.1379A>G (p.Tyr460Cys)
 dbSNP ExAC gnomAD v4
1g.209626893T>GCA344590099LAMB3c.1571A>C (p.Tyr524Ser)
c.1379A>C (p.Tyr460Ser)
1g.209626893T=CA2484299676LAMB3c.1571A= (p.Tyr524=)
c.1379A= (p.Tyr460=)
1g.209626894A=CA2484299677LAMB3c.1570T= (p.Tyr524=)
c.1378T= (p.Tyr460=)
1g.209626894A>CCA344590100LAMB3c.1570T>G (p.Tyr524Asp)
c.1378T>G (p.Tyr460Asp)
1g.209626894A>GCA344590101LAMB3c.1570T>C (p.Tyr524His)
c.1378T>C (p.Tyr460His)
 dbSNP gnomAD v3 gnomAD v4
1g.209626894A>TCA344590102LAMB3c.1570T>A (p.Tyr524Asn)
c.1378T>A (p.Tyr460Asn)
1g.209626895G>ACA423031224LAMB3c.1569C>T (p.Thr523=)
c.1377C>T (p.Thr459=)
1g.209626895G>CCA423031226LAMB3c.1569C>G (p.Thr523=)
c.1377C>G (p.Thr459=)
1g.209626895G>TCA423031225LAMB3c.1569C>A (p.Thr523=)
c.1377C>A (p.Thr459=)
1g.209626896G>ACA344590103LAMB3c.1568C>T (p.Thr523Ile)
c.1376C>T (p.Thr459Ile)
1g.209626896G>CCA344590104LAMB3c.1568C>G (p.Thr523Ser)
c.1376C>G (p.Thr459Ser)
1g.209626896G>TCA344590105LAMB3c.1568C>A (p.Thr523Asn)
c.1376C>A (p.Thr459Asn)
1g.209626897T>ACA344590107LAMB3c.1567A>T (p.Thr523Ser)
c.1375A>T (p.Thr459Ser)
1g.209626897T>CCA344590108LAMB3c.1567A>G (p.Thr523Ala)
c.1375A>G (p.Thr459Ala)
1g.209626897T>GCA344590106LAMB3c.1567A>C (p.Thr523Pro)
c.1375A>C (p.Thr459Pro)
1g.209626898C>ACA423031231LAMB3c.1566G>T (p.Arg522=)
c.1374G>T (p.Arg458=)
1g.209626898C=CA1148287490LAMB3c.1566G= (p.Arg522=)
c.1374G= (p.Arg458=)
1g.209626898C>GCA1375544LAMB3c.1566G>C (p.Arg522=)
c.1374G>C (p.Arg458=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626898C>TCA423031233LAMB3c.1566G>A (p.Arg522=)
c.1374G>A (p.Arg458=)
1g.209626899C>ACA344590110LAMB3c.1565G>T (p.Arg522Leu)
c.1373G>T (p.Arg458Leu)
1g.209626899C=CA1141980260LAMB3c.1565G= (p.Arg522=)
c.1373G= (p.Arg458=)
1g.209626899C>GCA344590109LAMB3c.1565G>C (p.Arg522Pro)
c.1373G>C (p.Arg458Pro)
1g.209626899C>TCA1375545LAMB3c.1565G>A (p.Arg522Gln)
c.1373G>A (p.Arg458Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626900G>ACA1375546LAMB3c.1564C>T (p.Arg522Trp)
c.1372C>T (p.Arg458Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209626900G>CCA344590111LAMB3c.1564C>G (p.Arg522Gly)
c.1372C>G (p.Arg458Gly)
1g.209626900G=CA2484299678LAMB3c.1564C= (p.Arg522=)
c.1372C= (p.Arg458=)
1g.209626900G>TCA423031235LAMB3c.1564C>A (p.Arg522=)
c.1372C>A (p.Arg458=)
1g.209626901G>ACA423031237LAMB3c.1563C>T (p.Asp521=)
c.1371C>T (p.Asp457=)
1g.209626901G>CCA344590112LAMB3c.1563C>G (p.Asp521Glu)
c.1371C>G (p.Asp457Glu)
1g.209626901G=CA2484299679LAMB3c.1563C= (p.Asp521=)
c.1371C= (p.Asp457=)
1g.209626901G>TCA344590113LAMB3c.1563C>A (p.Asp521Glu)
c.1371C>A (p.Asp457Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.209626902T>ACA344590114LAMB3c.1562A>T (p.Asp521Val)
c.1370A>T (p.Asp457Val)
1g.209626902T>CCA344590115LAMB3c.1562A>G (p.Asp521Gly)
c.1370A>G (p.Asp457Gly)
 dbSNP
1g.209626902T>GCA344590116LAMB3c.1562A>C (p.Asp521Ala)
c.1370A>C (p.Asp457Ala)
1g.209626902T=CA2484299680LAMB3c.1562A= (p.Asp521=)
c.1370A= (p.Asp457=)
1g.209626903C>ACA1375547LAMB3c.1561G>T (p.Asp521Tyr)
c.1369G>T (p.Asp457Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626903C=CA1142328974LAMB3c.1561G= (p.Asp521=)
c.1369G= (p.Asp457=)
1g.209626903C>GCA344590117LAMB3c.1561G>C (p.Asp521His)
c.1369G>C (p.Asp457His)
1g.209626903C>TCA344590118LAMB3c.1561G>A (p.Asp521Asn)
c.1369G>A (p.Asp457Asn)
 dbSNP
1g.209626904T>ACA423031241LAMB3c.1560A>T (p.Pro520=)
c.1368A>T (p.Pro456=)
 ClinVar gnomAD v4
1g.209626904T>CCA36756935LAMB3c.1560A>G (p.Pro520=)
c.1368A>G (p.Pro456=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209626904T>GCA423031242LAMB3c.1560A>C (p.Pro520=)
c.1368A>C (p.Pro456=)
1g.209626904T=CA2484299681LAMB3c.1560A= (p.Pro520=)
c.1368A= (p.Pro456=)
1g.209626905G>ACA344590121LAMB3c.1559C>T (p.Pro520Leu)
c.1367C>T (p.Pro456Leu)
1g.209626905G>CCA344590119LAMB3c.1559C>G (p.Pro520Arg)
c.1367C>G (p.Pro456Arg)
1g.209626905G>TCA344590120LAMB3c.1559C>A (p.Pro520Gln)
c.1367C>A (p.Pro456Gln)
1g.209626906G>ACA1375548LAMB3c.1558C>T (p.Pro520Ser)
c.1366C>T (p.Pro456Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626906G>CCA344590122LAMB3c.1558C>G (p.Pro520Ala)
c.1366C>G (p.Pro456Ala)
1g.209626906G=CA2484299682LAMB3c.1558C= (p.Pro520=)
c.1366C= (p.Pro456=)
1g.209626906G>TCA344590123LAMB3c.1558C>A (p.Pro520Thr)
c.1366C>A (p.Pro456Thr)
 gnomAD v4
1g.209626907A>CCA344590124LAMB3c.1557T>G (p.Cys519Trp)
c.1365T>G (p.Cys455Trp)
1g.209626907A>GCA423031247LAMB3c.1557T>C (p.Cys519=)
c.1365T>C (p.Cys455=)
1g.209626907A>TCA344590125LAMB3c.1557T>A (p.Cys519Ter)
c.1365T>A (p.Cys455Ter)
1g.209626908C>ACA344590126LAMB3c.1556G>T (p.Cys519Phe)
c.1364G>T (p.Cys455Phe)
1g.209626908C=CA2484299683LAMB3c.1556G= (p.Cys519=)
c.1364G= (p.Cys455=)
1g.209626908C>GCA344590127LAMB3c.1556G>C (p.Cys519Ser)
c.1364G>C (p.Cys455Ser)
1g.209626908C>TCA344590128LAMB3c.1556G>A (p.Cys519Tyr)
c.1364G>A (p.Cys455Tyr)
 dbSNP gnomAD v2
1g.209626909A=CA2484299684LAMB3c.1555T= (p.Cys519=)
c.1363T= (p.Cys455=)
1g.209626909A>CCA344590129LAMB3c.1555T>G (p.Cys519Gly)
c.1363T>G (p.Cys455Gly)
1g.209626909A>GCA344590130LAMB3c.1555T>C (p.Cys519Arg)
c.1363T>C (p.Cys455Arg)
1g.209626909A>TCA1375549LAMB3c.1555T>A (p.Cys519Ser)
c.1363T>A (p.Cys455Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626910C>ACA344590132LAMB3c.1554G>T (p.Gln518His)
c.1362G>T (p.Gln454His)
1g.209626910C=CA2484299685LAMB3c.1554G= (p.Gln518=)
c.1362G= (p.Gln454=)
1g.209626910C>GCA344590131LAMB3c.1554G>C (p.Gln518His)
c.1362G>C (p.Gln454His)
1g.209626910C>TCA423031249LAMB3c.1554G>A (p.Gln518=)
c.1362G>A (p.Gln454=)
 dbSNP gnomAD v3 gnomAD v4
1g.209626911T>ACA344590133LAMB3c.1553A>T (p.Gln518Leu)
c.1361A>T (p.Gln454Leu)
1g.209626911T>CCA344590134LAMB3c.1553A>G (p.Gln518Arg)
c.1361A>G (p.Gln454Arg)
1g.209626911T>GCA344590135LAMB3c.1553A>C (p.Gln518Pro)
c.1361A>C (p.Gln454Pro)
1g.209626912G>ACA344590136LAMB3c.1552C>T (p.Gln518Ter)
c.1360C>T (p.Gln454Ter)
 ClinVar gnomAD v4
1g.209626912G>CCA344590137LAMB3c.1552C>G (p.Gln518Glu)
c.1360C>G (p.Gln454Glu)
1g.209626912G>TCA344590138LAMB3c.1552C>A (p.Gln518Lys)
c.1360C>A (p.Gln454Lys)
1g.209626913G>ACA423031250LAMB3c.1551C>T (p.Arg517=)
c.1359C>T (p.Arg453=)
1g.209626913G>CCA423031251LAMB3c.1551C>G (p.Arg517=)
c.1359C>G (p.Arg453=)
1g.209626913G>TCA423031252LAMB3c.1551C>A (p.Arg517=)
c.1359C>A (p.Arg453=)
1g.209626914C>ACA36756937LAMB3c.1550G>T (p.Arg517Leu)
c.1358G>T (p.Arg453Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.209626914C=CA2484299686LAMB3c.1550G= (p.Arg517=)
c.1358G= (p.Arg453=)
1g.209626914C>GCA344590139LAMB3c.1550G>C (p.Arg517Pro)
c.1358G>C (p.Arg453Pro)
1g.209626914C>TCA344590140LAMB3c.1550G>A (p.Arg517His)
c.1358G>A (p.Arg453His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209626915G>ACA1375550LAMB3c.1549C>T (p.Arg517Cys)
c.1357C>T (p.Arg453Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626915G>CCA344590141LAMB3c.1549C>G (p.Arg517Gly)
c.1357C>G (p.Arg453Gly)
1g.209626915G=CA1141110836LAMB3c.1549C= (p.Arg517=)
c.1357C= (p.Arg453=)
1g.209626915G>TCA344590142LAMB3c.1549C>A (p.Arg517Ser)
c.1357C>A (p.Arg453Ser)
1g.209626916G>ACA423031257LAMB3c.1548C>T (p.Ile516=)
c.1356C>T (p.Ile452=)
 ClinVar
1g.209626916G>CCA344590143LAMB3c.1548C>G (p.Ile516Met)
c.1356C>G (p.Ile452Met)
 gnomAD v4
1g.209626916G>TCA423031258LAMB3c.1548C>A (p.Ile516=)
c.1356C>A (p.Ile452=)
 gnomAD v4
1g.209626917A>CCA344590146LAMB3c.1547T>G (p.Ile516Ser)
c.1355T>G (p.Ile452Ser)
1g.209626917A>GCA344590144LAMB3c.1547T>C (p.Ile516Thr)
c.1355T>C (p.Ile452Thr)
1g.209626917A>TCA344590145LAMB3c.1547T>A (p.Ile516Asn)
c.1355T>A (p.Ile452Asn)
1g.209626918T>ACA344590147LAMB3c.1546A>T (p.Ile516Phe)
c.1354A>T (p.Ile452Phe)
1g.209626918T>CCA1375551LAMB3c.1546A>G (p.Ile516Val)
c.1354A>G (p.Ile452Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626918T>GCA344590148LAMB3c.1546A>C (p.Ile516Leu)
c.1354A>C (p.Ile452Leu)
1g.209626918T=CA1142275416LAMB3c.1546A= (p.Ile516=)
c.1354A= (p.Ile452=)
1g.209626919G>ACA423031259LAMB3c.1545C>T (p.Ala515=)
c.1353C>T (p.Ala451=)
1g.209626919G>CCA423031260LAMB3c.1545C>G (p.Ala515=)
c.1353C>G (p.Ala451=)
1g.209626919G>TCA423031261LAMB3c.1545C>A (p.Ala515=)
c.1353C>A (p.Ala451=)
1g.209626920G>ACA344590149LAMB3c.1544C>T (p.Ala515Val)
c.1352C>T (p.Ala451Val)
1g.209626920G>CCA344590150LAMB3c.1544C>G (p.Ala515Gly)
c.1352C>G (p.Ala451Gly)
1g.209626920G>TCA344590151LAMB3c.1544C>A (p.Ala515Asp)
c.1352C>A (p.Ala451Asp)
1g.209626921C>ACA344590152LAMB3c.1543G>T (p.Ala515Ser)
c.1351G>T (p.Ala451Ser)
1g.209626921C=CA2484299687LAMB3c.1543G= (p.Ala515=)
c.1351G= (p.Ala451=)
1g.209626921C>GCA344590153LAMB3c.1543G>C (p.Ala515Pro)
c.1351G>C (p.Ala451Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.209626921C>TCA344590154LAMB3c.1543G>A (p.Ala515Thr)
c.1351G>A (p.Ala451Thr)
1g.209626922T>ACA423031264LAMB3c.1542A>T (p.Ala514=)
c.1350A>T (p.Ala450=)
1g.209626922T>CCA423031268LAMB3c.1542A>G (p.Ala514=)
c.1350A>G (p.Ala450=)
1g.209626922T>GCA423031269LAMB3c.1542A>C (p.Ala514=)
c.1350A>C (p.Ala450=)
 dbSNP gnomAD v3 gnomAD v4
1g.209626922T=CA2484299688LAMB3c.1542A= (p.Ala514=)
c.1350A= (p.Ala450=)
1g.209626923G>ACA344590155LAMB3c.1541C>T (p.Ala514Val)
c.1349C>T (p.Ala450Val)
1g.209626923G>CCA344590156LAMB3c.1541C>G (p.Ala514Gly)
c.1349C>G (p.Ala450Gly)
1g.209626923G=CA2484299689LAMB3c.1541C= (p.Ala514=)
c.1349C= (p.Ala450=)
1g.209626923G>TCA1375552LAMB3c.1541C>A (p.Ala514Glu)
c.1349C>A (p.Ala450Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626924C>ACA344590158LAMB3c.1540G>T (p.Ala514Ser)
c.1348G>T (p.Ala450Ser)
1g.209626924C=CA2484299690LAMB3c.1540G= (p.Ala514=)
c.1348G= (p.Ala450=)
1g.209626924C>GCA344590159LAMB3c.1540G>C (p.Ala514Pro)
c.1348G>C (p.Ala450Pro)
1g.209626924C>TCA344590157LAMB3c.1540G>A (p.Ala514Thr)
c.1348G>A (p.Ala450Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.209626925A>CCA423031272LAMB3c.1539T>G (p.Ala513=)
c.1347T>G (p.Ala449=)
1g.209626925A>GCA423031274LAMB3c.1539T>C (p.Ala513=)
c.1347T>C (p.Ala449=)
 gnomAD v4
1g.209626925A>TCA423031275LAMB3c.1539T>A (p.Ala513=)
c.1347T>A (p.Ala449=)
1g.209626926G>ACA344590161LAMB3c.1538C>T (p.Ala513Val)
c.1346C>T (p.Ala449Val)
 dbSNP
1g.209626926G>CCA344590160LAMB3c.1538C>G (p.Ala513Gly)
c.1346C>G (p.Ala449Gly)
1g.209626926G=CA2484299691LAMB3c.1538C= (p.Ala513=)
c.1346C= (p.Ala449=)
1g.209626926G>TCA344590162LAMB3c.1538C>A (p.Ala513Asp)
c.1346C>A (p.Ala449Asp)
1g.209626927C>ACA344590163LAMB3c.1537G>T (p.Ala513Ser)
c.1345G>T (p.Ala449Ser)
 gnomAD v4
1g.209626927C=CA2484299692LAMB3c.1537G= (p.Ala513=)
c.1345G= (p.Ala449=)
1g.209626927C>GCA344590165LAMB3c.1537G>C (p.Ala513Pro)
c.1345G>C (p.Ala449Pro)
 dbSNP gnomAD v2
1g.209626927C>TCA344590164LAMB3c.1537G>A (p.Ala513Thr)
c.1345G>A (p.Ala449Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.209626928G>ACA1375553LAMB3c.1536C>T (p.Ser512=)
c.1344C>T (p.Ser448=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626928G>CCA344590166LAMB3c.1536C>G (p.Ser512Arg)
c.1344C>G (p.Ser448Arg)
1g.209626928G=CA1144048421LAMB3c.1536C= (p.Ser512=)
c.1344C= (p.Ser448=)
1g.209626928G>TCA36756955LAMB3c.1536C>A (p.Ser512Arg)
c.1344C>A (p.Ser448Arg)
 ClinVar dbSNP gnomAD v4
1g.209626929C>ACA344590167LAMB3c.1535G>T (p.Ser512Ile)
c.1343G>T (p.Ser448Ile)
1g.209626929C>GCA344590168LAMB3c.1535G>C (p.Ser512Thr)
c.1343G>C (p.Ser448Thr)
1g.209626929C>TCA344590169LAMB3c.1535G>A (p.Ser512Asn)
c.1343G>A (p.Ser448Asn)
1g.209626930T>ACA344590170LAMB3c.1534A>T (p.Ser512Cys)
c.1342A>T (p.Ser448Cys)
1g.209626930T>CCA344590171LAMB3c.1534A>G (p.Ser512Gly)
c.1342A>G (p.Ser448Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.209626930T>GCA344590172LAMB3c.1534A>C (p.Ser512Arg)
c.1342A>C (p.Ser448Arg)
1g.209626930T=CA2484299693LAMB3c.1534A= (p.Ser512=)
c.1342A= (p.Ser448=)
1g.209626931G>ACA423031286LAMB3c.1533C>T (p.Cys511=)
c.1341C>T (p.Cys447=)
 dbSNP
1g.209626931G>CCA344590173LAMB3c.1533C>G (p.Cys511Trp)
c.1341C>G (p.Cys447Trp)
1g.209626931G=CA2484299694LAMB3c.1533C= (p.Cys511=)
c.1341C= (p.Cys447=)
1g.209626931G>TCA344590174LAMB3c.1533C>A (p.Cys511Ter)
c.1341C>A (p.Cys447Ter)
1g.209626932C>ACA344590175LAMB3c.1532G>T (p.Cys511Phe)
c.1340G>T (p.Cys447Phe)
1g.209626932C>GCA344590177LAMB3c.1532G>C (p.Cys511Ser)
c.1340G>C (p.Cys447Ser)
1g.209626932C>TCA344590176LAMB3c.1532G>A (p.Cys511Tyr)
c.1340G>A (p.Cys447Tyr)
 gnomAD v4
1g.209626933A>CCA344590178LAMB3c.1531T>G (p.Cys511Gly)
c.1339T>G (p.Cys447Gly)
1g.209626933A>GCA344590179LAMB3c.1531T>C (p.Cys511Arg)
c.1339T>C (p.Cys447Arg)
1g.209626933A>TCA344590180LAMB3c.1531T>A (p.Cys511Ser)
c.1339T>A (p.Cys447Ser)
1g.209626934C>ACA344590181LAMB3c.1530G>T (p.Met510Ile)
c.1338G>T (p.Met446Ile)
1g.209626934C>GCA344590182LAMB3c.1530G>C (p.Met510Ile)
c.1338G>C (p.Met446Ile)
1g.209626934C>TCA344590183LAMB3c.1530G>A (p.Met510Ile)
c.1338G>A (p.Met446Ile)
 gnomAD v4
1g.209626935A=CA2484299695LAMB3c.1529T= (p.Met510=)
c.1337T= (p.Met446=)
1g.209626935A>CCA344590184LAMB3c.1529T>G (p.Met510Arg)
c.1337T>G (p.Met446Arg)
1g.209626935A>GCA344590185LAMB3c.1529T>C (p.Met510Thr)
c.1337T>C (p.Met446Thr)
1g.209626935A>TCA344590186LAMB3c.1529T>A (p.Met510Lys)
c.1337T>A (p.Met446Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.209626936T>ACA344590188LAMB3c.1528A>T (p.Met510Leu)
c.1336A>T (p.Met446Leu)
1g.209626936T>CCA344590189LAMB3c.1528A>G (p.Met510Val)
c.1336A>G (p.Met446Val)
 gnomAD v4
1g.209626936T>GCA344590187LAMB3c.1528A>C (p.Met510Leu)
c.1336A>C (p.Met446Leu)
1g.209626937C>ACA423031303LAMB3c.1527G>T (p.Leu509=)
c.1335G>T (p.Leu445=)
1g.209626937C>GCA423031306LAMB3c.1527G>C (p.Leu509=)
c.1335G>C (p.Leu445=)
 ClinVar dbSNP
1g.209626937C>TCA423031305LAMB3c.1527G>A (p.Leu509=)
c.1335G>A (p.Leu445=)
1g.209626938A=CA1147528782LAMB3c.1526T= (p.Leu509=)
c.1334T= (p.Leu445=)
1g.209626938A>CCA344590190LAMB3c.1526T>G (p.Leu509Arg)
c.1334T>G (p.Leu445Arg)
1g.209626938A>GCA344590191LAMB3c.1526T>C (p.Leu509Pro)
c.1334T>C (p.Leu445Pro)
1g.209626938A>TCA1375554LAMB3c.1526T>A (p.Leu509Gln)
c.1334T>A (p.Leu445Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626939G>ACA423031310LAMB3c.1525C>T (p.Leu509=)
c.1333C>T (p.Leu445=)
1g.209626939G>CCA344590192LAMB3c.1525C>G (p.Leu509Val)
c.1333C>G (p.Leu445Val)
1g.209626939G>TCA344590193LAMB3c.1525C>A (p.Leu509Met)
c.1333C>A (p.Leu445Met)
1g.209626940G>ACA423031317LAMB3c.1524C>T (p.Gly508=)
c.1332C>T (p.Gly444=)
 gnomAD v4
1g.209626940G>CCA423031315LAMB3c.1524C>G (p.Gly508=)
c.1332C>G (p.Gly444=)
1g.209626940G>TCA423031313LAMB3c.1524C>A (p.Gly508=)
c.1332C>A (p.Gly444=)
1g.209626941C>ACA344590194LAMB3c.1523G>T (p.Gly508Val)
c.1331G>T (p.Gly444Val)
1g.209626941C=CA2484299696LAMB3c.1523G= (p.Gly508=)
c.1331G= (p.Gly444=)
1g.209626941C>GCA344590195LAMB3c.1523G>C (p.Gly508Ala)
c.1331G>C (p.Gly444Ala)
1g.209626941C>TCA344590196LAMB3c.1523G>A (p.Gly508Asp)
c.1331G>A (p.Gly444Asp)
 dbSNP gnomAD v2
1g.209626942C>ACA344590197LAMB3c.1522G>T (p.Gly508Cys)
c.1330G>T (p.Gly444Cys)
1g.209626942C=CA2484299697LAMB3c.1522G= (p.Gly508=)
c.1330G= (p.Gly444=)
1g.209626942C>GCA344590198LAMB3c.1522G>C (p.Gly508Arg)
c.1330G>C (p.Gly444Arg)
 gnomAD v4
1g.209626942C>TCA1375555LAMB3c.1522G>A (p.Gly508Ser)
c.1330G>A (p.Gly444Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209626943A=CA2484299698LAMB3c.1521T= (p.Gly507=)
c.1329T= (p.Gly443=)
1g.209626943A>CCA423031326LAMB3c.1521T>G (p.Gly507=)
c.1329T>G (p.Gly443=)
1g.209626943A>GCA423031329LAMB3c.1521T>C (p.Gly507=)
c.1329T>C (p.Gly443=)
 ClinVar dbSNP
1g.209626943A>TCA423031328LAMB3c.1521T>A (p.Gly507=)
c.1329T>A (p.Gly443=)
 dbSNP gnomAD v3 gnomAD v4
1g.209626944C>ACA344590200LAMB3c.1520G>T (p.Gly507Val)
c.1328G>T (p.Gly443Val)
1g.209626944C=CA2484299699LAMB3c.1520G= (p.Gly507=)
c.1328G= (p.Gly443=)
1g.209626944C>GCA344590201LAMB3c.1520G>C (p.Gly507Ala)
c.1328G>C (p.Gly443Ala)
1g.209626944C>TCA344590199LAMB3c.1520G>A (p.Gly507Asp)
c.1328G>A (p.Gly443Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.209626945C>ACA344590202LAMB3c.1519G>T (p.Gly507Cys)
c.1327G>T (p.Gly443Cys)
 dbSNP gnomAD v4
1g.209626945C=CA2484299700LAMB3c.1519G= (p.Gly507=)
c.1327G= (p.Gly443=)
1g.209626945C>GCA344590203LAMB3c.1519G>C (p.Gly507Arg)
c.1327G>C (p.Gly443Arg)
1g.209626945C>TCA344590204LAMB3c.1519G>A (p.Gly507Ser)
c.1327G>A (p.Gly443Ser)
 dbSNP gnomAD v4
1g.209626946A>CCA344590205LAMB3c.1518T>G (p.Phe506Leu)
c.1326T>G (p.Phe442Leu)
1g.209626946A>GCA423031340LAMB3c.1518T>C (p.Phe506=)
c.1326T>C (p.Phe442=)
 ClinVar
1g.209626946A>TCA344590206LAMB3c.1518T>A (p.Phe506Leu)
c.1326T>A (p.Phe442Leu)
1g.209626947A=CA2484299701LAMB3c.1517T= (p.Phe506=)
c.1325T= (p.Phe442=)
1g.209626947A>CCA1375556LAMB3c.1517T>G (p.Phe506Cys)
c.1325T>G (p.Phe442Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626947A>GCA344590207LAMB3c.1517T>C (p.Phe506Ser)
c.1325T>C (p.Phe442Ser)
1g.209626947A>TCA344590208LAMB3c.1517T>A (p.Phe506Tyr)
c.1325T>A (p.Phe442Tyr)
1g.209626948A=CA1142060841LAMB3c.1516T= (p.Phe506=)
c.1324T= (p.Phe442=)
1g.209626948A>CCA344590209LAMB3c.1516T>G (p.Phe506Val)
c.1324T>G (p.Phe442Val)
1g.209626948A>GCA344590210LAMB3c.1516T>C (p.Phe506Leu)
c.1324T>C (p.Phe442Leu)
 dbSNP
1g.209626948A>TCA1375557LAMB3c.1516T>A (p.Phe506Ile)
c.1324T>A (p.Phe442Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626949G>ACA423031344LAMB3c.1515C>T (p.Gly505=)
c.1323C>T (p.Gly441=)
1g.209626949G>CCA423031345LAMB3c.1515C>G (p.Gly505=)
c.1323C>G (p.Gly441=)
1g.209626949G=CA2484299702LAMB3c.1515C= (p.Gly505=)
c.1323C= (p.Gly441=)
1g.209626949G>TCA423031346LAMB3c.1515C>A (p.Gly505=)
c.1323C>A (p.Gly441=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209626950C>ACA344590211LAMB3c.1514G>T (p.Gly505Val)
c.1322G>T (p.Gly441Val)
1g.209626950C=CA2484299703LAMB3c.1514G= (p.Gly505=)
c.1322G= (p.Gly441=)
1g.209626950C>GCA344590212LAMB3c.1514G>C (p.Gly505Ala)
c.1322G>C (p.Gly441Ala)
1g.209626950C>TCA344590213LAMB3c.1514G>A (p.Gly505Asp)
c.1322G>A (p.Gly441Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.209626951C>ACA344590215LAMB3c.1513G>T (p.Gly505Cys)
c.1321G>T (p.Gly441Cys)
1g.209626951C>GCA344590216LAMB3c.1513G>C (p.Gly505Arg)
c.1321G>C (p.Gly441Arg)
1g.209626951C>TCA344590214LAMB3c.1513G>A (p.Gly505Ser)
c.1321G>A (p.Gly441Ser)
1g.209626952T>ACA344590217LAMB3c.1512A>T (p.Glu504Asp)
c.1320A>T (p.Glu440Asp)
1g.209626952T>CCA423031348LAMB3c.1512A>G (p.Glu504=)
c.1320A>G (p.Glu440=)
1g.209626952T>GCA36756987LAMB3c.1512A>C (p.Glu504Asp)
c.1320A>C (p.Glu440Asp)
 dbSNP gnomAD v4
1g.209626952T=CA2484299704LAMB3c.1512A= (p.Glu504=)
c.1320A= (p.Glu440=)
1g.209626953T>ACA344590218LAMB3c.1511A>T (p.Glu504Val)
c.1319A>T (p.Glu440Val)
1g.209626953T>CCA344590219LAMB3c.1511A>G (p.Glu504Gly)
c.1319A>G (p.Glu440Gly)
1g.209626953T>GCA344590220LAMB3c.1511A>C (p.Glu504Ala)
c.1319A>C (p.Glu440Ala)
1g.209626954C>ACA344590221LAMB3c.1510G>T (p.Glu504Ter)
c.1318G>T (p.Glu440Ter)
 ClinVar dbSNP
1g.209626954C=CA2484299705LAMB3c.1510G= (p.Glu504=)
c.1318G= (p.Glu440=)
1g.209626954C>GCA344590222LAMB3c.1510G>C (p.Glu504Gln)
c.1318G>C (p.Glu440Gln)
1g.209626954C>TCA344590223LAMB3c.1510G>A (p.Glu504Lys)
c.1318G>A (p.Glu440Lys)
1g.209626955C>ACA423031362LAMB3c.1509G>T (p.Arg503=)
c.1317G>T (p.Arg439=)
 gnomAD v4
1g.209626955C>GCA423031365LAMB3c.1509G>C (p.Arg503=)
c.1317G>C (p.Arg439=)
1g.209626955C>TCA423031368LAMB3c.1509G>A (p.Arg503=)
c.1317G>A (p.Arg439=)
 ClinVar dbSNP
1g.209626956C>ACA344590224LAMB3c.1508G>T (p.Arg503Leu)
c.1316G>T (p.Arg439Leu)
 dbSNP gnomAD v4
1g.209626956C=CA1143525940LAMB3c.1508G= (p.Arg503=)
c.1316G= (p.Arg439=)
1g.209626956C>GCA344590225LAMB3c.1508G>C (p.Arg503Pro)
c.1316G>C (p.Arg439Pro)
1g.209626956C>TCA1375558LAMB3c.1508G>A (p.Arg503Gln)
c.1316G>A (p.Arg439Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626957G>ACA1375559LAMB3c.1507C>T (p.Arg503Trp)
c.1315C>T (p.Arg439Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626957G>CCA344590226LAMB3c.1507C>G (p.Arg503Gly)
c.1315C>G (p.Arg439Gly)
1g.209626957G=CA2484299706LAMB3c.1507C= (p.Arg503=)
c.1315C= (p.Arg439=)
1g.209626957G>TCA423031375LAMB3c.1507C>A (p.Arg503=)
c.1315C>A (p.Arg439=)
 gnomAD v4
1g.209626958A>CCA344590228LAMB3c.1506T>G (p.Cys502Trp)
c.1314T>G (p.Cys438Trp)
1g.209626958A>GCA423031376LAMB3c.1506T>C (p.Cys502=)
c.1314T>C (p.Cys438=)
1g.209626958A>TCA344590227LAMB3c.1506T>A (p.Cys502Ter)
c.1314T>A (p.Cys438Ter)
1g.209626959C>ACA344590229LAMB3c.1505G>T (p.Cys502Phe)
c.1313G>T (p.Cys438Phe)
1g.209626959C>GCA344590230LAMB3c.1505G>C (p.Cys502Ser)
c.1313G>C (p.Cys438Ser)
1g.209626959C>TCA344590231LAMB3c.1505G>A (p.Cys502Tyr)
c.1313G>A (p.Cys438Tyr)
1g.209626959_209626960delinsCACA2484299707LAMB3c.1504_1505delinsTG (p.Cys502=)
c.1312_1313delinsTG (p.Cys438=)
1g.209626960delCA36756988LAMB3c.1504del (p.Cys502ValfsTer8)
c.1312del (p.Cys438ValfsTer8)
 dbSNP
1g.209626960A>CCA344590232LAMB3c.1504T>G (p.Cys502Gly)
c.1312T>G (p.Cys438Gly)
1g.209626960A>GCA344590233LAMB3c.1504T>C (p.Cys502Arg)
c.1312T>C (p.Cys438Arg)
1g.209626960A>TCA344590234LAMB3c.1504T>A (p.Cys502Ser)
c.1312T>A (p.Cys438Ser)
1g.209626961G>ACA423031380LAMB3c.1503C>T (p.Pro501=)
c.1311C>T (p.Pro437=)
1g.209626961G>CCA423031382LAMB3c.1503C>G (p.Pro501=)
c.1311C>G (p.Pro437=)
1g.209626961G=CA2484299708LAMB3c.1503C= (p.Pro501=)
c.1311C= (p.Pro437=)
1g.209626961G>TCA423031383LAMB3c.1503C>A (p.Pro501=)
c.1311C>A (p.Pro437=)
 dbSNP
1g.209626964delCA2574000288LAMB3c.1503del (p.Cys502ValfsTer8)
c.1311del (p.Cys438ValfsTer8)
 gnomAD v4
1g.209626962G>ACA1375560LAMB3c.1502C>T (p.Pro501Leu)
c.1310C>T (p.Pro437Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.209626962G>CCA344590235LAMB3c.1502C>G (p.Pro501Arg)
c.1310C>G (p.Pro437Arg)
1g.209626962G=CA2484299709LAMB3c.1502C= (p.Pro501=)
c.1310C= (p.Pro437=)
1g.209626962G>TCA344590236LAMB3c.1502C>A (p.Pro501His)
c.1310C>A (p.Pro437His)
1g.209626963G>ACA1375561LAMB3c.1501C>T (p.Pro501Ser)
c.1309C>T (p.Pro437Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.209626963G>CCA344590237LAMB3c.1501C>G (p.Pro501Ala)
c.1309C>G (p.Pro437Ala)
1g.209626963G=CA1148414729LAMB3c.1501C= (p.Pro501=)
c.1309C= (p.Pro437=)
1g.209626963G>TCA344590238LAMB3c.1501C>A (p.Pro501Thr)
c.1309C>A (p.Pro437Thr)
1g.209626964G>ACA423031384LAMB3c.1500C>T (p.Cys500=)
c.1308C>T (p.Cys436=)
 dbSNP gnomAD v2
1g.209626964G>CCA344590239LAMB3c.1500C>G (p.Cys500Trp)
c.1308C>G (p.Cys436Trp)
1g.209626964G=CA2484299710LAMB3c.1500C= (p.Cys500=)
c.1308C= (p.Cys436=)
1g.209626964G>TCA36756994LAMB3c.1500C>A (p.Cys500Ter)
c.1308C>A (p.Cys436Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209626965C>ACA344590240LAMB3c.1499G>T (p.Cys500Phe)
c.1307G>T (p.Cys436Phe)
1g.209626965C>GCA344590242LAMB3c.1499G>C (p.Cys500Ser)
c.1307G>C (p.Cys436Ser)
1g.209626965C>TCA344590241LAMB3c.1499G>A (p.Cys500Tyr)
c.1307G>A (p.Cys436Tyr)
1g.209626966A>CCA344590243LAMB3c.1498T>G (p.Cys500Gly)
c.1306T>G (p.Cys436Gly)
1g.209626966A>GCA344590244LAMB3c.1498T>C (p.Cys500Arg)
c.1306T>C (p.Cys436Arg)
1g.209626966A>TCA344590245LAMB3c.1498T>A (p.Cys500Ser)
c.1306T>A (p.Cys436Ser)
1g.209626967C>ACA344590246LAMB3c.1497G>T (p.Gln499His)
c.1305G>T (p.Gln435His)
 COSMIC
1g.209626967C>GCA344590247LAMB3c.1497G>C (p.Gln499His)
c.1305G>C (p.Gln435His)
1g.209626967C>TCA423031390LAMB3c.1497G>A (p.Gln499=)
c.1305G>A (p.Gln435=)
1g.209626968T>ACA344590250LAMB3c.1496A>T (p.Gln499Leu)
c.1304A>T (p.Gln435Leu)
 gnomAD v4
1g.209626968T>CCA344590249LAMB3c.1496A>G (p.Gln499Arg)
c.1304A>G (p.Gln435Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.209626968T>GCA344590248LAMB3c.1496A>C (p.Gln499Pro)
c.1304A>C (p.Gln435Pro)
1g.209626968T=CA2484299711LAMB3c.1496A= (p.Gln499=)
c.1304A= (p.Gln435=)

Number of alleles fetched