Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23903073C>ACA402049339LAMA3c.1439C>A (p.Ser480Ter)
c.6266C>A (p.Ser2089Ter)
c.3158C>A (p.Ser1053Ter)
c.6098C>A (p.Ser2033Ter)
c.1044C>A
c.1271C>A (p.Ser424Ter)
n.844C>A
c.6293C>A (p.Ser2098Ter)
c.6284C>A (p.Ser2095Ter)
c.6275C>A (p.Ser2092Ter)
c.6161C>A (p.Ser2054Ter)
c.4145C>A (p.Ser1382Ter)
c.1835C>A (p.Ser612Ter)
n.6534C>A
18g.23903073C=CA2290323974LAMA3c.1439C= (p.Ser480=)
c.6266C= (p.Ser2089=)
c.3158C= (p.Ser1053=)
c.6098C= (p.Ser2033=)
c.1044C=
c.1271C= (p.Ser424=)
n.844C=
c.6293C= (p.Ser2098=)
c.6284C= (p.Ser2095=)
c.6275C= (p.Ser2092=)
c.6161C= (p.Ser2054=)
c.4145C= (p.Ser1382=)
c.1835C= (p.Ser612=)
n.6534C=
18g.23903073C>GCA402049341LAMA3c.1439C>G (p.Ser480Ter)
c.6266C>G (p.Ser2089Ter)
c.3158C>G (p.Ser1053Ter)
c.6098C>G (p.Ser2033Ter)
c.1044C>G
c.1271C>G (p.Ser424Ter)
n.844C>G
c.6293C>G (p.Ser2098Ter)
c.6284C>G (p.Ser2095Ter)
c.6275C>G (p.Ser2092Ter)
c.6161C>G (p.Ser2054Ter)
c.4145C>G (p.Ser1382Ter)
c.1835C>G (p.Ser612Ter)
n.6534C>G
 ClinVar dbSNP
18g.23903073C>TCA402049344LAMA3c.1439C>T (p.Ser480Leu)
c.6266C>T (p.Ser2089Leu)
c.3158C>T (p.Ser1053Leu)
c.6098C>T (p.Ser2033Leu)
c.1044C>T
c.1271C>T (p.Ser424Leu)
n.844C>T
c.6293C>T (p.Ser2098Leu)
c.6284C>T (p.Ser2095Leu)
c.6275C>T (p.Ser2092Leu)
c.6161C>T (p.Ser2054Leu)
c.4145C>T (p.Ser1382Leu)
c.1835C>T (p.Ser612Leu)
n.6534C>T
 dbSNP
18g.23903074A>CCA503334967LAMA3c.1440A>C (p.Ser480=)
c.6267A>C (p.Ser2089=)
c.3159A>C (p.Ser1053=)
c.6099A>C (p.Ser2033=)
c.1045A>C
c.1272A>C (p.Ser424=)
n.845A>C
c.6294A>C (p.Ser2098=)
c.6285A>C (p.Ser2095=)
c.6276A>C (p.Ser2092=)
c.6162A>C (p.Ser2054=)
c.4146A>C (p.Ser1382=)
c.1836A>C (p.Ser612=)
n.6535A>C
18g.23903074A>GCA503334968LAMA3c.1440A>G (p.Ser480=)
c.6267A>G (p.Ser2089=)
c.3159A>G (p.Ser1053=)
c.6099A>G (p.Ser2033=)
c.1045A>G
c.1272A>G (p.Ser424=)
n.845A>G
c.6294A>G (p.Ser2098=)
c.6285A>G (p.Ser2095=)
c.6276A>G (p.Ser2092=)
c.6162A>G (p.Ser2054=)
c.4146A>G (p.Ser1382=)
c.1836A>G (p.Ser612=)
n.6535A>G
18g.23903074A>TCA503334970LAMA3c.1440A>T (p.Ser480=)
c.6267A>T (p.Ser2089=)
c.3159A>T (p.Ser1053=)
c.6099A>T (p.Ser2033=)
c.1045A>T
c.1272A>T (p.Ser424=)
n.845A>T
c.6294A>T (p.Ser2098=)
c.6285A>T (p.Ser2095=)
c.6276A>T (p.Ser2092=)
c.6162A>T (p.Ser2054=)
c.4146A>T (p.Ser1382=)
c.1836A>T (p.Ser612=)
n.6535A>T
18g.23903075T>ACA402049347LAMA3c.1441T>A (p.Ser481Thr)
c.6268T>A (p.Ser2090Thr)
c.3160T>A (p.Ser1054Thr)
c.6100T>A (p.Ser2034Thr)
c.1046T>A
c.1273T>A (p.Ser425Thr)
n.846T>A
c.6295T>A (p.Ser2099Thr)
c.6286T>A (p.Ser2096Thr)
c.6277T>A (p.Ser2093Thr)
c.6163T>A (p.Ser2055Thr)
c.4147T>A (p.Ser1383Thr)
c.1837T>A (p.Ser613Thr)
n.6536T>A
 gnomAD v4
18g.23903075T>CCA402049350LAMA3c.1441T>C (p.Ser481Pro)
c.6268T>C (p.Ser2090Pro)
c.3160T>C (p.Ser1054Pro)
c.6100T>C (p.Ser2034Pro)
c.1046T>C
c.1273T>C (p.Ser425Pro)
n.846T>C
c.6295T>C (p.Ser2099Pro)
c.6286T>C (p.Ser2096Pro)
c.6277T>C (p.Ser2093Pro)
c.6163T>C (p.Ser2055Pro)
c.4147T>C (p.Ser1383Pro)
c.1837T>C (p.Ser613Pro)
n.6536T>C
18g.23903075T>GCA402049352LAMA3c.1441T>G (p.Ser481Ala)
c.6268T>G (p.Ser2090Ala)
c.3160T>G (p.Ser1054Ala)
c.6100T>G (p.Ser2034Ala)
c.1046T>G
c.1273T>G (p.Ser425Ala)
n.846T>G
c.6295T>G (p.Ser2099Ala)
c.6286T>G (p.Ser2096Ala)
c.6277T>G (p.Ser2093Ala)
c.6163T>G (p.Ser2055Ala)
c.4147T>G (p.Ser1383Ala)
c.1837T>G (p.Ser613Ala)
n.6536T>G
18g.23903076C>ACA402049355LAMA3c.1442C>A (p.Ser481Tyr)
c.6269C>A (p.Ser2090Tyr)
c.3161C>A (p.Ser1054Tyr)
c.6101C>A (p.Ser2034Tyr)
c.1047C>A
c.1274C>A (p.Ser425Tyr)
n.847C>A
c.6296C>A (p.Ser2099Tyr)
c.6287C>A (p.Ser2096Tyr)
c.6278C>A (p.Ser2093Tyr)
c.6164C>A (p.Ser2055Tyr)
c.4148C>A (p.Ser1383Tyr)
c.1838C>A (p.Ser613Tyr)
n.6537C>A
18g.23903076C>GCA402049357LAMA3c.1442C>G (p.Ser481Cys)
c.6269C>G (p.Ser2090Cys)
c.3161C>G (p.Ser1054Cys)
c.6101C>G (p.Ser2034Cys)
c.1047C>G
c.1274C>G (p.Ser425Cys)
n.847C>G
c.6296C>G (p.Ser2099Cys)
c.6287C>G (p.Ser2096Cys)
c.6278C>G (p.Ser2093Cys)
c.6164C>G (p.Ser2055Cys)
c.4148C>G (p.Ser1383Cys)
c.1838C>G (p.Ser613Cys)
n.6537C>G
18g.23903076C>TCA402049360LAMA3c.1442C>T (p.Ser481Phe)
c.6269C>T (p.Ser2090Phe)
c.3161C>T (p.Ser1054Phe)
c.6101C>T (p.Ser2034Phe)
c.1047C>T
c.1274C>T (p.Ser425Phe)
n.847C>T
c.6296C>T (p.Ser2099Phe)
c.6287C>T (p.Ser2096Phe)
c.6278C>T (p.Ser2093Phe)
c.6164C>T (p.Ser2055Phe)
c.4148C>T (p.Ser1383Phe)
c.1838C>T (p.Ser613Phe)
n.6537C>T
18g.23903077T>ACA503334976LAMA3c.1443T>A (p.Ser481=)
c.6270T>A (p.Ser2090=)
c.3162T>A (p.Ser1054=)
c.6102T>A (p.Ser2034=)
c.1048T>A
c.1275T>A (p.Ser425=)
n.848T>A
c.6297T>A (p.Ser2099=)
c.6288T>A (p.Ser2096=)
c.6279T>A (p.Ser2093=)
c.6165T>A (p.Ser2055=)
c.4149T>A (p.Ser1383=)
c.1839T>A (p.Ser613=)
n.6538T>A
18g.23903077T>CCA503334978LAMA3c.1443T>C (p.Ser481=)
c.6270T>C (p.Ser2090=)
c.3162T>C (p.Ser1054=)
c.6102T>C (p.Ser2034=)
c.1048T>C
c.1275T>C (p.Ser425=)
n.848T>C
c.6297T>C (p.Ser2099=)
c.6288T>C (p.Ser2096=)
c.6279T>C (p.Ser2093=)
c.6165T>C (p.Ser2055=)
c.4149T>C (p.Ser1383=)
c.1839T>C (p.Ser613=)
n.6538T>C
18g.23903077T>GCA503334979LAMA3c.1443T>G (p.Ser481=)
c.6270T>G (p.Ser2090=)
c.3162T>G (p.Ser1054=)
c.6102T>G (p.Ser2034=)
c.1048T>G
c.1275T>G (p.Ser425=)
n.848T>G
c.6297T>G (p.Ser2099=)
c.6288T>G (p.Ser2096=)
c.6279T>G (p.Ser2093=)
c.6165T>G (p.Ser2055=)
c.4149T>G (p.Ser1383=)
c.1839T>G (p.Ser613=)
n.6538T>G
18g.23903078T>ACA402049364LAMA3c.1444T>A (p.Leu482Met)
c.6271T>A (p.Leu2091Met)
c.3163T>A (p.Leu1055Met)
c.6103T>A (p.Leu2035Met)
c.1049T>A
c.1276T>A (p.Leu426Met)
n.849T>A
c.6298T>A (p.Leu2100Met)
c.6289T>A (p.Leu2097Met)
c.6280T>A (p.Leu2094Met)
c.6166T>A (p.Leu2056Met)
c.4150T>A (p.Leu1384Met)
c.1840T>A (p.Leu614Met)
n.6539T>A
18g.23903078T>CCA503334982LAMA3c.1444T>C (p.Leu482=)
c.6271T>C (p.Leu2091=)
c.3163T>C (p.Leu1055=)
c.6103T>C (p.Leu2035=)
c.1049T>C
c.1276T>C (p.Leu426=)
n.849T>C
c.6298T>C (p.Leu2100=)
c.6289T>C (p.Leu2097=)
c.6280T>C (p.Leu2094=)
c.6166T>C (p.Leu2056=)
c.4150T>C (p.Leu1384=)
c.1840T>C (p.Leu614=)
n.6539T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23903078T>GCA402049362LAMA3c.1444T>G (p.Leu482Val)
c.6271T>G (p.Leu2091Val)
c.3163T>G (p.Leu1055Val)
c.6103T>G (p.Leu2035Val)
c.1049T>G
c.1276T>G (p.Leu426Val)
n.849T>G
c.6298T>G (p.Leu2100Val)
c.6289T>G (p.Leu2097Val)
c.6280T>G (p.Leu2094Val)
c.6166T>G (p.Leu2056Val)
c.4150T>G (p.Leu1384Val)
c.1840T>G (p.Leu614Val)
n.6539T>G
 gnomAD v4
18g.23903078T=CA2290323979LAMA3c.1444T= (p.Leu482=)
c.6271T= (p.Leu2091=)
c.3163T= (p.Leu1055=)
c.6103T= (p.Leu2035=)
c.1049T=
c.1276T= (p.Leu426=)
n.849T=
c.6298T= (p.Leu2100=)
c.6289T= (p.Leu2097=)
c.6280T= (p.Leu2094=)
c.6166T= (p.Leu2056=)
c.4150T= (p.Leu1384=)
c.1840T= (p.Leu614=)
n.6539T=
18g.23903079T>ACA402049367LAMA3c.1445T>A (p.Leu482Ter)
c.6272T>A (p.Leu2091Ter)
c.3164T>A (p.Leu1055Ter)
c.6104T>A (p.Leu2035Ter)
c.1050T>A
c.1277T>A (p.Leu426Ter)
n.850T>A
c.6299T>A (p.Leu2100Ter)
c.6290T>A (p.Leu2097Ter)
c.6281T>A (p.Leu2094Ter)
c.6167T>A (p.Leu2056Ter)
c.4151T>A (p.Leu1384Ter)
c.1841T>A (p.Leu614Ter)
n.6540T>A
18g.23903079T>CCA402049370LAMA3c.1445T>C (p.Leu482Ser)
c.6272T>C (p.Leu2091Ser)
c.3164T>C (p.Leu1055Ser)
c.6104T>C (p.Leu2035Ser)
c.1050T>C
c.1277T>C (p.Leu426Ser)
n.850T>C
c.6299T>C (p.Leu2100Ser)
c.6290T>C (p.Leu2097Ser)
c.6281T>C (p.Leu2094Ser)
c.6167T>C (p.Leu2056Ser)
c.4151T>C (p.Leu1384Ser)
c.1841T>C (p.Leu614Ser)
n.6540T>C
18g.23903079T>GCA402049373LAMA3c.1445T>G (p.Leu482Trp)
c.6272T>G (p.Leu2091Trp)
c.3164T>G (p.Leu1055Trp)
c.6104T>G (p.Leu2035Trp)
c.1050T>G
c.1277T>G (p.Leu426Trp)
n.850T>G
c.6299T>G (p.Leu2100Trp)
c.6290T>G (p.Leu2097Trp)
c.6281T>G (p.Leu2094Trp)
c.6167T>G (p.Leu2056Trp)
c.4151T>G (p.Leu1384Trp)
c.1841T>G (p.Leu614Trp)
n.6540T>G
18g.23903080G>ACA503334987LAMA3c.1446G>A (p.Leu482=)
c.6273G>A (p.Leu2091=)
c.3165G>A (p.Leu1055=)
c.6105G>A (p.Leu2035=)
c.1051G>A
c.1278G>A (p.Leu426=)
n.851G>A
c.6300G>A (p.Leu2100=)
c.6291G>A (p.Leu2097=)
c.6282G>A (p.Leu2094=)
c.6168G>A (p.Leu2056=)
c.4152G>A (p.Leu1384=)
c.1842G>A (p.Leu614=)
n.6541G>A
 gnomAD v4
18g.23903080G>CCA402049377LAMA3c.1446G>C (p.Leu482Phe)
c.6273G>C (p.Leu2091Phe)
c.3165G>C (p.Leu1055Phe)
c.6105G>C (p.Leu2035Phe)
c.1051G>C
c.1278G>C (p.Leu426Phe)
n.851G>C
c.6300G>C (p.Leu2100Phe)
c.6291G>C (p.Leu2097Phe)
c.6282G>C (p.Leu2094Phe)
c.6168G>C (p.Leu2056Phe)
c.4152G>C (p.Leu1384Phe)
c.1842G>C (p.Leu614Phe)
n.6541G>C
18g.23903080G>TCA402049379LAMA3c.1446G>T (p.Leu482Phe)
c.6273G>T (p.Leu2091Phe)
c.3165G>T (p.Leu1055Phe)
c.6105G>T (p.Leu2035Phe)
c.1051G>T
c.1278G>T (p.Leu426Phe)
n.851G>T
c.6300G>T (p.Leu2100Phe)
c.6291G>T (p.Leu2097Phe)
c.6282G>T (p.Leu2094Phe)
c.6168G>T (p.Leu2056Phe)
c.4152G>T (p.Leu1384Phe)
c.1842G>T (p.Leu614Phe)
n.6541G>T
 gnomAD v4
18g.23903081T>ACA402049382LAMA3c.1447T>A (p.Leu483Met)
c.6274T>A (p.Leu2092Met)
c.3166T>A (p.Leu1056Met)
c.6106T>A (p.Leu2036Met)
c.1052T>A
c.1279T>A (p.Leu427Met)
n.852T>A
c.6301T>A (p.Leu2101Met)
c.6292T>A (p.Leu2098Met)
c.6283T>A (p.Leu2095Met)
c.6169T>A (p.Leu2057Met)
c.4153T>A (p.Leu1385Met)
c.1843T>A (p.Leu615Met)
n.6542T>A
18g.23903081T>CCA503334990LAMA3c.1447T>C (p.Leu483=)
c.6274T>C (p.Leu2092=)
c.3166T>C (p.Leu1056=)
c.6106T>C (p.Leu2036=)
c.1052T>C
c.1279T>C (p.Leu427=)
n.852T>C
c.6301T>C (p.Leu2101=)
c.6292T>C (p.Leu2098=)
c.6283T>C (p.Leu2095=)
c.6169T>C (p.Leu2057=)
c.4153T>C (p.Leu1385=)
c.1843T>C (p.Leu615=)
n.6542T>C
 ClinVar dbSNP gnomAD v4
18g.23903081T>GCA402049384LAMA3c.1447T>G (p.Leu483Val)
c.6274T>G (p.Leu2092Val)
c.3166T>G (p.Leu1056Val)
c.6106T>G (p.Leu2036Val)
c.1052T>G
c.1279T>G (p.Leu427Val)
n.852T>G
c.6301T>G (p.Leu2101Val)
c.6292T>G (p.Leu2098Val)
c.6283T>G (p.Leu2095Val)
c.6169T>G (p.Leu2057Val)
c.4153T>G (p.Leu1385Val)
c.1843T>G (p.Leu615Val)
n.6542T>G
18g.23903082T>ACA402049394LAMA3c.1448T>A (p.Leu483Ter)
c.6275T>A (p.Leu2092Ter)
c.3167T>A (p.Leu1056Ter)
c.6107T>A (p.Leu2036Ter)
c.1053T>A
c.1280T>A (p.Leu427Ter)
n.853T>A
c.6302T>A (p.Leu2101Ter)
c.6293T>A (p.Leu2098Ter)
c.6284T>A (p.Leu2095Ter)
c.6170T>A (p.Leu2057Ter)
c.4154T>A (p.Leu1385Ter)
c.1844T>A (p.Leu615Ter)
n.6543T>A
18g.23903082T>CCA402049389LAMA3c.1448T>C (p.Leu483Ser)
c.6275T>C (p.Leu2092Ser)
c.3167T>C (p.Leu1056Ser)
c.6107T>C (p.Leu2036Ser)
c.1053T>C
c.1280T>C (p.Leu427Ser)
n.853T>C
c.6302T>C (p.Leu2101Ser)
c.6293T>C (p.Leu2098Ser)
c.6284T>C (p.Leu2095Ser)
c.6170T>C (p.Leu2057Ser)
c.4154T>C (p.Leu1385Ser)
c.1844T>C (p.Leu615Ser)
n.6543T>C
18g.23903082T>GCA402049391LAMA3c.1448T>G (p.Leu483Trp)
c.6275T>G (p.Leu2092Trp)
c.3167T>G (p.Leu1056Trp)
c.6107T>G (p.Leu2036Trp)
c.1053T>G
c.1280T>G (p.Leu427Trp)
n.853T>G
c.6302T>G (p.Leu2101Trp)
c.6293T>G (p.Leu2098Trp)
c.6284T>G (p.Leu2095Trp)
c.6170T>G (p.Leu2057Trp)
c.4154T>G (p.Leu1385Trp)
c.1844T>G (p.Leu615Trp)
n.6543T>G
18g.23903083G>ACA503334992LAMA3c.1449G>A (p.Leu483=)
c.6276G>A (p.Leu2092=)
c.3168G>A (p.Leu1056=)
c.6108G>A (p.Leu2036=)
c.1054G>A
c.1281G>A (p.Leu427=)
n.854G>A
c.6303G>A (p.Leu2101=)
c.6294G>A (p.Leu2098=)
c.6285G>A (p.Leu2095=)
c.6171G>A (p.Leu2057=)
c.4155G>A (p.Leu1385=)
c.1845G>A (p.Leu615=)
n.6544G>A
 ClinVar dbSNP gnomAD v4
18g.23903083G>CCA402049397LAMA3c.1449G>C (p.Leu483Phe)
c.6276G>C (p.Leu2092Phe)
c.3168G>C (p.Leu1056Phe)
c.6108G>C (p.Leu2036Phe)
c.1054G>C
c.1281G>C (p.Leu427Phe)
n.854G>C
c.6303G>C (p.Leu2101Phe)
c.6294G>C (p.Leu2098Phe)
c.6285G>C (p.Leu2095Phe)
c.6171G>C (p.Leu2057Phe)
c.4155G>C (p.Leu1385Phe)
c.1845G>C (p.Leu615Phe)
n.6544G>C
18g.23903083G=CA2290323984LAMA3c.1449G= (p.Leu483=)
c.6276G= (p.Leu2092=)
c.3168G= (p.Leu1056=)
c.6108G= (p.Leu2036=)
c.1054G=
c.1281G= (p.Leu427=)
n.854G=
c.6303G= (p.Leu2101=)
c.6294G= (p.Leu2098=)
c.6285G= (p.Leu2095=)
c.6171G= (p.Leu2057=)
c.4155G= (p.Leu1385=)
c.1845G= (p.Leu615=)
n.6544G=
18g.23903083G>TCA402049400LAMA3c.1449G>T (p.Leu483Phe)
c.6276G>T (p.Leu2092Phe)
c.3168G>T (p.Leu1056Phe)
c.6108G>T (p.Leu2036Phe)
c.1054G>T
c.1281G>T (p.Leu427Phe)
n.854G>T
c.6303G>T (p.Leu2101Phe)
c.6294G>T (p.Leu2098Phe)
c.6285G>T (p.Leu2095Phe)
c.6171G>T (p.Leu2057Phe)
c.4155G>T (p.Leu1385Phe)
c.1845G>T (p.Leu615Phe)
n.6544G>T
18g.23903084C>ACA402049404LAMA3c.1450C>A (p.Gln484Lys)
c.6277C>A (p.Gln2093Lys)
c.3169C>A (p.Gln1057Lys)
c.6109C>A (p.Gln2037Lys)
c.1055C>A
c.1282C>A (p.Gln428Lys)
n.855C>A
c.6304C>A (p.Gln2102Lys)
c.6295C>A (p.Gln2099Lys)
c.6286C>A (p.Gln2096Lys)
c.6172C>A (p.Gln2058Lys)
c.4156C>A (p.Gln1386Lys)
c.1846C>A (p.Gln616Lys)
n.6545C>A
 gnomAD v4
18g.23903084C>GCA402049407LAMA3c.1450C>G (p.Gln484Glu)
c.6277C>G (p.Gln2093Glu)
c.3169C>G (p.Gln1057Glu)
c.6109C>G (p.Gln2037Glu)
c.1055C>G
c.1282C>G (p.Gln428Glu)
n.855C>G
c.6304C>G (p.Gln2102Glu)
c.6295C>G (p.Gln2099Glu)
c.6286C>G (p.Gln2096Glu)
c.6172C>G (p.Gln2058Glu)
c.4156C>G (p.Gln1386Glu)
c.1846C>G (p.Gln616Glu)
n.6545C>G
18g.23903084C>TCA402049410LAMA3c.1450C>T (p.Gln484Ter)
c.6277C>T (p.Gln2093Ter)
c.3169C>T (p.Gln1057Ter)
c.6109C>T (p.Gln2037Ter)
c.1055C>T
c.1282C>T (p.Gln428Ter)
n.855C>T
c.6304C>T (p.Gln2102Ter)
c.6295C>T (p.Gln2099Ter)
c.6286C>T (p.Gln2096Ter)
c.6172C>T (p.Gln2058Ter)
c.4156C>T (p.Gln1386Ter)
c.1846C>T (p.Gln616Ter)
n.6545C>T
18g.23903085A>CCA402049415LAMA3c.1451A>C (p.Gln484Pro)
c.6278A>C (p.Gln2093Pro)
c.3170A>C (p.Gln1057Pro)
c.6110A>C (p.Gln2037Pro)
c.1056A>C
c.1283A>C (p.Gln428Pro)
n.856A>C
c.6305A>C (p.Gln2102Pro)
c.6296A>C (p.Gln2099Pro)
c.6287A>C (p.Gln2096Pro)
c.6173A>C (p.Gln2058Pro)
c.4157A>C (p.Gln1386Pro)
c.1847A>C (p.Gln616Pro)
n.6546A>C
 gnomAD v4
18g.23903085A>GCA402049418LAMA3c.1451A>G (p.Gln484Arg)
c.6278A>G (p.Gln2093Arg)
c.3170A>G (p.Gln1057Arg)
c.6110A>G (p.Gln2037Arg)
c.1056A>G
c.1283A>G (p.Gln428Arg)
n.856A>G
c.6305A>G (p.Gln2102Arg)
c.6296A>G (p.Gln2099Arg)
c.6287A>G (p.Gln2096Arg)
c.6173A>G (p.Gln2058Arg)
c.4157A>G (p.Gln1386Arg)
c.1847A>G (p.Gln616Arg)
n.6546A>G
18g.23903085A>TCA402049416LAMA3c.1451A>T (p.Gln484Leu)
c.6278A>T (p.Gln2093Leu)
c.3170A>T (p.Gln1057Leu)
c.6110A>T (p.Gln2037Leu)
c.1056A>T
c.1283A>T (p.Gln428Leu)
n.856A>T
c.6305A>T (p.Gln2102Leu)
c.6296A>T (p.Gln2099Leu)
c.6287A>T (p.Gln2096Leu)
c.6173A>T (p.Gln2058Leu)
c.4157A>T (p.Gln1386Leu)
c.1847A>T (p.Gln616Leu)
n.6546A>T
18g.23903086A=CA2290323989LAMA3c.1452A= (p.Gln484=)
c.6279A= (p.Gln2093=)
c.3171A= (p.Gln1057=)
c.6111A= (p.Gln2037=)
c.1057A=
c.1284A= (p.Gln428=)
n.857A=
c.6306A= (p.Gln2102=)
c.6297A= (p.Gln2099=)
c.6288A= (p.Gln2096=)
c.6174A= (p.Gln2058=)
c.4158A= (p.Gln1386=)
c.1848A= (p.Gln616=)
n.6547A=
18g.23903086A>CCA402049421LAMA3c.1452A>C (p.Gln484His)
c.6279A>C (p.Gln2093His)
c.3171A>C (p.Gln1057His)
c.6111A>C (p.Gln2037His)
c.1057A>C
c.1284A>C (p.Gln428His)
n.857A>C
c.6306A>C (p.Gln2102His)
c.6297A>C (p.Gln2099His)
c.6288A>C (p.Gln2096His)
c.6174A>C (p.Gln2058His)
c.4158A>C (p.Gln1386His)
c.1848A>C (p.Gln616His)
n.6547A>C
 gnomAD v4
18g.23903086A>GCA503334994LAMA3c.1452A>G (p.Gln484=)
c.6279A>G (p.Gln2093=)
c.3171A>G (p.Gln1057=)
c.6111A>G (p.Gln2037=)
c.1057A>G
c.1284A>G (p.Gln428=)
n.857A>G
c.6306A>G (p.Gln2102=)
c.6297A>G (p.Gln2099=)
c.6288A>G (p.Gln2096=)
c.6174A>G (p.Gln2058=)
c.4158A>G (p.Gln1386=)
c.1848A>G (p.Gln616=)
n.6547A>G
18g.23903086A>TCA8916320LAMA3c.1452A>T (p.Gln484His)
c.6279A>T (p.Gln2093His)
c.3171A>T (p.Gln1057His)
c.6111A>T (p.Gln2037His)
c.1057A>T
c.1284A>T (p.Gln428His)
n.857A>T
c.6306A>T (p.Gln2102His)
c.6297A>T (p.Gln2099His)
c.6288A>T (p.Gln2096His)
c.6174A>T (p.Gln2058His)
c.4158A>T (p.Gln1386His)
c.1848A>T (p.Gln616His)
n.6547A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903087A=CA2290323992LAMA3c.1453A= (p.Thr485=)
c.6280A= (p.Thr2094=)
c.3172A= (p.Thr1058=)
c.6112A= (p.Thr2038=)
c.1058A=
c.1285A= (p.Thr429=)
n.858A=
c.6307A= (p.Thr2103=)
c.6298A= (p.Thr2100=)
c.6289A= (p.Thr2097=)
c.6175A= (p.Thr2059=)
c.4159A= (p.Thr1387=)
c.1849A= (p.Thr617=)
n.6548A=
18g.23903087A>CCA402049425LAMA3c.1453A>C (p.Thr485Pro)
c.6280A>C (p.Thr2094Pro)
c.3172A>C (p.Thr1058Pro)
c.6112A>C (p.Thr2038Pro)
c.1058A>C
c.1285A>C (p.Thr429Pro)
n.858A>C
c.6307A>C (p.Thr2103Pro)
c.6298A>C (p.Thr2100Pro)
c.6289A>C (p.Thr2097Pro)
c.6175A>C (p.Thr2059Pro)
c.4159A>C (p.Thr1387Pro)
c.1849A>C (p.Thr617Pro)
n.6548A>C
18g.23903087A>GCA8916321LAMA3c.1453A>G (p.Thr485Ala)
c.6280A>G (p.Thr2094Ala)
c.3172A>G (p.Thr1058Ala)
c.6112A>G (p.Thr2038Ala)
c.1058A>G
c.1285A>G (p.Thr429Ala)
n.858A>G
c.6307A>G (p.Thr2103Ala)
c.6298A>G (p.Thr2100Ala)
c.6289A>G (p.Thr2097Ala)
c.6175A>G (p.Thr2059Ala)
c.4159A>G (p.Thr1387Ala)
c.1849A>G (p.Thr617Ala)
n.6548A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903087A>TCA402049429LAMA3c.1453A>T (p.Thr485Ser)
c.6280A>T (p.Thr2094Ser)
c.3172A>T (p.Thr1058Ser)
c.6112A>T (p.Thr2038Ser)
c.1058A>T
c.1285A>T (p.Thr429Ser)
n.858A>T
c.6307A>T (p.Thr2103Ser)
c.6298A>T (p.Thr2100Ser)
c.6289A>T (p.Thr2097Ser)
c.6175A>T (p.Thr2059Ser)
c.4159A>T (p.Thr1387Ser)
c.1849A>T (p.Thr617Ser)
n.6548A>T
18g.23903088C>ACA402049433LAMA3c.1454C>A (p.Thr485Asn)
c.6281C>A (p.Thr2094Asn)
c.3173C>A (p.Thr1058Asn)
c.6113C>A (p.Thr2038Asn)
c.1059C>A
c.1286C>A (p.Thr429Asn)
n.859C>A
c.6308C>A (p.Thr2103Asn)
c.6299C>A (p.Thr2100Asn)
c.6290C>A (p.Thr2097Asn)
c.6176C>A (p.Thr2059Asn)
c.4160C>A (p.Thr1387Asn)
c.1850C>A (p.Thr617Asn)
n.6549C>A
 ClinVar dbSNP
18g.23903088C>GCA402049436LAMA3c.1454C>G (p.Thr485Ser)
c.6281C>G (p.Thr2094Ser)
c.3173C>G (p.Thr1058Ser)
c.6113C>G (p.Thr2038Ser)
c.1059C>G
c.1286C>G (p.Thr429Ser)
n.859C>G
c.6308C>G (p.Thr2103Ser)
c.6299C>G (p.Thr2100Ser)
c.6290C>G (p.Thr2097Ser)
c.6176C>G (p.Thr2059Ser)
c.4160C>G (p.Thr1387Ser)
c.1850C>G (p.Thr617Ser)
n.6549C>G
18g.23903088C>TCA402049440LAMA3c.1454C>T (p.Thr485Ile)
c.6281C>T (p.Thr2094Ile)
c.3173C>T (p.Thr1058Ile)
c.6113C>T (p.Thr2038Ile)
c.1059C>T
c.1286C>T (p.Thr429Ile)
n.859C>T
c.6308C>T (p.Thr2103Ile)
c.6299C>T (p.Thr2100Ile)
c.6290C>T (p.Thr2097Ile)
c.6176C>T (p.Thr2059Ile)
c.4160C>T (p.Thr1387Ile)
c.1850C>T (p.Thr617Ile)
n.6549C>T
18g.23903089C>ACA503334995LAMA3c.1455C>A (p.Thr485=)
c.6282C>A (p.Thr2094=)
c.3174C>A (p.Thr1058=)
c.6114C>A (p.Thr2038=)
c.1060C>A
c.1287C>A (p.Thr429=)
n.860C>A
c.6309C>A (p.Thr2103=)
c.6300C>A (p.Thr2100=)
c.6291C>A (p.Thr2097=)
c.6177C>A (p.Thr2059=)
c.4161C>A (p.Thr1387=)
c.1851C>A (p.Thr617=)
n.6550C>A
18g.23903089C>GCA503334996LAMA3c.1455C>G (p.Thr485=)
c.6282C>G (p.Thr2094=)
c.3174C>G (p.Thr1058=)
c.6114C>G (p.Thr2038=)
c.1060C>G
c.1287C>G (p.Thr429=)
n.860C>G
c.6309C>G (p.Thr2103=)
c.6300C>G (p.Thr2100=)
c.6291C>G (p.Thr2097=)
c.6177C>G (p.Thr2059=)
c.4161C>G (p.Thr1387=)
c.1851C>G (p.Thr617=)
n.6550C>G
18g.23903089C>TCA503334997LAMA3c.1455C>T (p.Thr485=)
c.6282C>T (p.Thr2094=)
c.3174C>T (p.Thr1058=)
c.6114C>T (p.Thr2038=)
c.1060C>T
c.1287C>T (p.Thr429=)
n.860C>T
c.6309C>T (p.Thr2103=)
c.6300C>T (p.Thr2100=)
c.6291C>T (p.Thr2097=)
c.6177C>T (p.Thr2059=)
c.4161C>T (p.Thr1387=)
c.1851C>T (p.Thr617=)
n.6550C>T
18g.23903090A>CCA402049441LAMA3c.1456A>C (p.Asn486His)
c.6283A>C (p.Asn2095His)
c.3175A>C (p.Asn1059His)
c.6115A>C (p.Asn2039His)
c.1061A>C
c.1288A>C (p.Asn430His)
n.861A>C
c.6310A>C (p.Asn2104His)
c.6301A>C (p.Asn2101His)
c.6292A>C (p.Asn2098His)
c.6178A>C (p.Asn2060His)
c.4162A>C (p.Asn1388His)
c.1852A>C (p.Asn618His)
n.6551A>C
18g.23903090A>GCA402049444LAMA3c.1456A>G (p.Asn486Asp)
c.6283A>G (p.Asn2095Asp)
c.3175A>G (p.Asn1059Asp)
c.6115A>G (p.Asn2039Asp)
c.1061A>G
c.1288A>G (p.Asn430Asp)
n.861A>G
c.6310A>G (p.Asn2104Asp)
c.6301A>G (p.Asn2101Asp)
c.6292A>G (p.Asn2098Asp)
c.6178A>G (p.Asn2060Asp)
c.4162A>G (p.Asn1388Asp)
c.1852A>G (p.Asn618Asp)
n.6551A>G
18g.23903090A>TCA402049448LAMA3c.1456A>T (p.Asn486Tyr)
c.6283A>T (p.Asn2095Tyr)
c.3175A>T (p.Asn1059Tyr)
c.6115A>T (p.Asn2039Tyr)
c.1061A>T
c.1288A>T (p.Asn430Tyr)
n.861A>T
c.6310A>T (p.Asn2104Tyr)
c.6301A>T (p.Asn2101Tyr)
c.6292A>T (p.Asn2098Tyr)
c.6178A>T (p.Asn2060Tyr)
c.4162A>T (p.Asn1388Tyr)
c.1852A>T (p.Asn618Tyr)
n.6551A>T
18g.23903091A=CA2290323995LAMA3c.1457A= (p.Asn486=)
c.6284A= (p.Asn2095=)
c.3176A= (p.Asn1059=)
c.6116A= (p.Asn2039=)
c.1062A=
c.1289A= (p.Asn430=)
n.862A=
c.6311A= (p.Asn2104=)
c.6302A= (p.Asn2101=)
c.6293A= (p.Asn2098=)
c.6179A= (p.Asn2060=)
c.4163A= (p.Asn1388=)
c.1853A= (p.Asn618=)
n.6552A=
18g.23903091A>CCA402049452LAMA3c.1457A>C (p.Asn486Thr)
c.6284A>C (p.Asn2095Thr)
c.3176A>C (p.Asn1059Thr)
c.6116A>C (p.Asn2039Thr)
c.1062A>C
c.1289A>C (p.Asn430Thr)
n.862A>C
c.6311A>C (p.Asn2104Thr)
c.6302A>C (p.Asn2101Thr)
c.6293A>C (p.Asn2098Thr)
c.6179A>C (p.Asn2060Thr)
c.4163A>C (p.Asn1388Thr)
c.1853A>C (p.Asn618Thr)
n.6552A>C
18g.23903091A>GCA402049456LAMA3c.1457A>G (p.Asn486Ser)
c.6284A>G (p.Asn2095Ser)
c.3176A>G (p.Asn1059Ser)
c.6116A>G (p.Asn2039Ser)
c.1062A>G
c.1289A>G (p.Asn430Ser)
n.862A>G
c.6311A>G (p.Asn2104Ser)
c.6302A>G (p.Asn2101Ser)
c.6293A>G (p.Asn2098Ser)
c.6179A>G (p.Asn2060Ser)
c.4163A>G (p.Asn1388Ser)
c.1853A>G (p.Asn618Ser)
n.6552A>G
 dbSNP
18g.23903091A>TCA402049455LAMA3c.1457A>T (p.Asn486Ile)
c.6284A>T (p.Asn2095Ile)
c.3176A>T (p.Asn1059Ile)
c.6116A>T (p.Asn2039Ile)
c.1062A>T
c.1289A>T (p.Asn430Ile)
n.862A>T
c.6311A>T (p.Asn2104Ile)
c.6302A>T (p.Asn2101Ile)
c.6293A>T (p.Asn2098Ile)
c.6179A>T (p.Asn2060Ile)
c.4163A>T (p.Asn1388Ile)
c.1853A>T (p.Asn618Ile)
n.6552A>T
18g.23903092C>ACA402049460LAMA3c.1458C>A (p.Asn486Lys)
c.6285C>A (p.Asn2095Lys)
c.3177C>A (p.Asn1059Lys)
c.6117C>A (p.Asn2039Lys)
c.1063C>A
c.1290C>A (p.Asn430Lys)
n.863C>A
c.6312C>A (p.Asn2104Lys)
c.6303C>A (p.Asn2101Lys)
c.6294C>A (p.Asn2098Lys)
c.6180C>A (p.Asn2060Lys)
c.4164C>A (p.Asn1388Lys)
c.1854C>A (p.Asn618Lys)
n.6553C>A
18g.23903092C=CA2290323999LAMA3c.1458C= (p.Asn486=)
c.6285C= (p.Asn2095=)
c.3177C= (p.Asn1059=)
c.6117C= (p.Asn2039=)
c.1063C=
c.1290C= (p.Asn430=)
n.863C=
c.6312C= (p.Asn2104=)
c.6303C= (p.Asn2101=)
c.6294C= (p.Asn2098=)
c.6180C= (p.Asn2060=)
c.4164C= (p.Asn1388=)
c.1854C= (p.Asn618=)
n.6553C=
18g.23903092C>GCA402049464LAMA3c.1458C>G (p.Asn486Lys)
c.6285C>G (p.Asn2095Lys)
c.3177C>G (p.Asn1059Lys)
c.6117C>G (p.Asn2039Lys)
c.1063C>G
c.1290C>G (p.Asn430Lys)
n.863C>G
c.6312C>G (p.Asn2104Lys)
c.6303C>G (p.Asn2101Lys)
c.6294C>G (p.Asn2098Lys)
c.6180C>G (p.Asn2060Lys)
c.4164C>G (p.Asn1388Lys)
c.1854C>G (p.Asn618Lys)
n.6553C>G
18g.23903092C>TCA8916322LAMA3c.1458C>T (p.Asn486=)
c.6285C>T (p.Asn2095=)
c.3177C>T (p.Asn1059=)
c.6117C>T (p.Asn2039=)
c.1063C>T
c.1290C>T (p.Asn430=)
n.863C>T
c.6312C>T (p.Asn2104=)
c.6303C>T (p.Asn2101=)
c.6294C>T (p.Asn2098=)
c.6180C>T (p.Asn2060=)
c.4164C>T (p.Asn1388=)
c.1854C>T (p.Asn618=)
n.6553C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903093A=CA2290324003LAMA3c.1459A= (p.Ile487=)
c.6286A= (p.Ile2096=)
c.3178A= (p.Ile1060=)
c.6118A= (p.Ile2040=)
c.1064A=
c.1291A= (p.Ile431=)
n.864A=
c.6313A= (p.Ile2105=)
c.6304A= (p.Ile2102=)
c.6295A= (p.Ile2099=)
c.6181A= (p.Ile2061=)
c.4165A= (p.Ile1389=)
c.1855A= (p.Ile619=)
n.6554A=
18g.23903093A>CCA402049467LAMA3c.1459A>C (p.Ile487Leu)
c.6286A>C (p.Ile2096Leu)
c.3178A>C (p.Ile1060Leu)
c.6118A>C (p.Ile2040Leu)
c.1064A>C
c.1291A>C (p.Ile431Leu)
n.864A>C
c.6313A>C (p.Ile2105Leu)
c.6304A>C (p.Ile2102Leu)
c.6295A>C (p.Ile2099Leu)
c.6181A>C (p.Ile2061Leu)
c.4165A>C (p.Ile1389Leu)
c.1855A>C (p.Ile619Leu)
n.6554A>C
18g.23903093A>GCA8916323LAMA3c.1459A>G (p.Ile487Val)
c.6286A>G (p.Ile2096Val)
c.3178A>G (p.Ile1060Val)
c.6118A>G (p.Ile2040Val)
c.1064A>G
c.1291A>G (p.Ile431Val)
n.864A>G
c.6313A>G (p.Ile2105Val)
c.6304A>G (p.Ile2102Val)
c.6295A>G (p.Ile2099Val)
c.6181A>G (p.Ile2061Val)
c.4165A>G (p.Ile1389Val)
c.1855A>G (p.Ile619Val)
n.6554A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903093A>TCA402049472LAMA3c.1459A>T (p.Ile487Phe)
c.6286A>T (p.Ile2096Phe)
c.3178A>T (p.Ile1060Phe)
c.6118A>T (p.Ile2040Phe)
c.1064A>T
c.1291A>T (p.Ile431Phe)
n.864A>T
c.6313A>T (p.Ile2105Phe)
c.6304A>T (p.Ile2102Phe)
c.6295A>T (p.Ile2099Phe)
c.6181A>T (p.Ile2061Phe)
c.4165A>T (p.Ile1389Phe)
c.1855A>T (p.Ile619Phe)
n.6554A>T
18g.23903094T>ACA402049476LAMA3c.1460T>A (p.Ile487Asn)
c.6287T>A (p.Ile2096Asn)
c.3179T>A (p.Ile1060Asn)
c.6119T>A (p.Ile2040Asn)
c.1065T>A
c.1292T>A (p.Ile431Asn)
n.865T>A
c.6314T>A (p.Ile2105Asn)
c.6305T>A (p.Ile2102Asn)
c.6296T>A (p.Ile2099Asn)
c.6182T>A (p.Ile2061Asn)
c.4166T>A (p.Ile1389Asn)
c.1856T>A (p.Ile619Asn)
n.6555T>A
 dbSNP gnomAD v3 gnomAD v4
18g.23903094T>CCA8916324LAMA3c.1460T>C (p.Ile487Thr)
c.6287T>C (p.Ile2096Thr)
c.3179T>C (p.Ile1060Thr)
c.6119T>C (p.Ile2040Thr)
c.1065T>C
c.1292T>C (p.Ile431Thr)
n.865T>C
c.6314T>C (p.Ile2105Thr)
c.6305T>C (p.Ile2102Thr)
c.6296T>C (p.Ile2099Thr)
c.6182T>C (p.Ile2061Thr)
c.4166T>C (p.Ile1389Thr)
c.1856T>C (p.Ile619Thr)
n.6555T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903094T>GCA402049479LAMA3c.1460T>G (p.Ile487Ser)
c.6287T>G (p.Ile2096Ser)
c.3179T>G (p.Ile1060Ser)
c.6119T>G (p.Ile2040Ser)
c.1065T>G
c.1292T>G (p.Ile431Ser)
n.865T>G
c.6314T>G (p.Ile2105Ser)
c.6305T>G (p.Ile2102Ser)
c.6296T>G (p.Ile2099Ser)
c.6182T>G (p.Ile2061Ser)
c.4166T>G (p.Ile1389Ser)
c.1856T>G (p.Ile619Ser)
n.6555T>G
18g.23903094T=CA2290324009LAMA3c.1460T= (p.Ile487=)
c.6287T= (p.Ile2096=)
c.3179T= (p.Ile1060=)
c.6119T= (p.Ile2040=)
c.1065T=
c.1292T= (p.Ile431=)
n.865T=
c.6314T= (p.Ile2105=)
c.6305T= (p.Ile2102=)
c.6296T= (p.Ile2099=)
c.6182T= (p.Ile2061=)
c.4166T= (p.Ile1389=)
c.1856T= (p.Ile619=)
n.6555T=
18g.23903095T>ACA503335001LAMA3c.1461T>A (p.Ile487=)
c.6288T>A (p.Ile2096=)
c.3180T>A (p.Ile1060=)
c.6120T>A (p.Ile2040=)
c.1066T>A
c.1293T>A (p.Ile431=)
n.866T>A
c.6315T>A (p.Ile2105=)
c.6306T>A (p.Ile2102=)
c.6297T>A (p.Ile2099=)
c.6183T>A (p.Ile2061=)
c.4167T>A (p.Ile1389=)
c.1857T>A (p.Ile619=)
n.6556T>A
 ClinVar
18g.23903095T>CCA503335002LAMA3c.1461T>C (p.Ile487=)
c.6288T>C (p.Ile2096=)
c.3180T>C (p.Ile1060=)
c.6120T>C (p.Ile2040=)
c.1066T>C
c.1293T>C (p.Ile431=)
n.866T>C
c.6315T>C (p.Ile2105=)
c.6306T>C (p.Ile2102=)
c.6297T>C (p.Ile2099=)
c.6183T>C (p.Ile2061=)
c.4167T>C (p.Ile1389=)
c.1857T>C (p.Ile619=)
n.6556T>C
18g.23903095T>GCA402049483LAMA3c.1461T>G (p.Ile487Met)
c.6288T>G (p.Ile2096Met)
c.3180T>G (p.Ile1060Met)
c.6120T>G (p.Ile2040Met)
c.1066T>G
c.1293T>G (p.Ile431Met)
n.866T>G
c.6315T>G (p.Ile2105Met)
c.6306T>G (p.Ile2102Met)
c.6297T>G (p.Ile2099Met)
c.6183T>G (p.Ile2061Met)
c.4167T>G (p.Ile1389Met)
c.1857T>G (p.Ile619Met)
n.6556T>G
18g.23903096G>ACA402049486LAMA3c.1462G>A (p.Ala488Thr)
c.6289G>A (p.Ala2097Thr)
c.3181G>A (p.Ala1061Thr)
c.6121G>A (p.Ala2041Thr)
c.1067G>A
c.1294G>A (p.Ala432Thr)
n.867G>A
c.6316G>A (p.Ala2106Thr)
c.6307G>A (p.Ala2103Thr)
c.6298G>A (p.Ala2100Thr)
c.6184G>A (p.Ala2062Thr)
c.4168G>A (p.Ala1390Thr)
c.1858G>A (p.Ala620Thr)
n.6557G>A
 gnomAD v4
18g.23903096G>CCA402049489LAMA3c.1462G>C (p.Ala488Pro)
c.6289G>C (p.Ala2097Pro)
c.3181G>C (p.Ala1061Pro)
c.6121G>C (p.Ala2041Pro)
c.1067G>C
c.1294G>C (p.Ala432Pro)
n.867G>C
c.6316G>C (p.Ala2106Pro)
c.6307G>C (p.Ala2103Pro)
c.6298G>C (p.Ala2100Pro)
c.6184G>C (p.Ala2062Pro)
c.4168G>C (p.Ala1390Pro)
c.1858G>C (p.Ala620Pro)
n.6557G>C
18g.23903096G>TCA402049492LAMA3c.1462G>T (p.Ala488Ser)
c.6289G>T (p.Ala2097Ser)
c.3181G>T (p.Ala1061Ser)
c.6121G>T (p.Ala2041Ser)
c.1067G>T
c.1294G>T (p.Ala432Ser)
n.867G>T
c.6316G>T (p.Ala2106Ser)
c.6307G>T (p.Ala2103Ser)
c.6298G>T (p.Ala2100Ser)
c.6184G>T (p.Ala2062Ser)
c.4168G>T (p.Ala1390Ser)
c.1858G>T (p.Ala620Ser)
n.6557G>T
 gnomAD v4
18g.23903097C>ACA8916326LAMA3c.1463C>A (p.Ala488Glu)
c.6290C>A (p.Ala2097Glu)
c.3182C>A (p.Ala1061Glu)
c.6122C>A (p.Ala2041Glu)
c.1068C>A
c.1295C>A (p.Ala432Glu)
n.868C>A
c.6317C>A (p.Ala2106Glu)
c.6308C>A (p.Ala2103Glu)
c.6299C>A (p.Ala2100Glu)
c.6185C>A (p.Ala2062Glu)
c.4169C>A (p.Ala1390Glu)
c.1859C>A (p.Ala620Glu)
n.6558C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903097C=CA2290324018LAMA3c.1463C= (p.Ala488=)
c.6290C= (p.Ala2097=)
c.3182C= (p.Ala1061=)
c.6122C= (p.Ala2041=)
c.1068C=
c.1295C= (p.Ala432=)
n.868C=
c.6317C= (p.Ala2106=)
c.6308C= (p.Ala2103=)
c.6299C= (p.Ala2100=)
c.6185C= (p.Ala2062=)
c.4169C= (p.Ala1390=)
c.1859C= (p.Ala620=)
n.6558C=
18g.23903097C>GCA402049497LAMA3c.1463C>G (p.Ala488Gly)
c.6290C>G (p.Ala2097Gly)
c.3182C>G (p.Ala1061Gly)
c.6122C>G (p.Ala2041Gly)
c.1068C>G
c.1295C>G (p.Ala432Gly)
n.868C>G
c.6317C>G (p.Ala2106Gly)
c.6308C>G (p.Ala2103Gly)
c.6299C>G (p.Ala2100Gly)
c.6185C>G (p.Ala2062Gly)
c.4169C>G (p.Ala1390Gly)
c.1859C>G (p.Ala620Gly)
n.6558C>G
18g.23903097C>TCA8916325LAMA3c.1463C>T (p.Ala488Val)
c.6290C>T (p.Ala2097Val)
c.3182C>T (p.Ala1061Val)
c.6122C>T (p.Ala2041Val)
c.1068C>T
c.1295C>T (p.Ala432Val)
n.868C>T
c.6317C>T (p.Ala2106Val)
c.6308C>T (p.Ala2103Val)
c.6299C>T (p.Ala2100Val)
c.6185C>T (p.Ala2062Val)
c.4169C>T (p.Ala1390Val)
c.1859C>T (p.Ala620Val)
n.6558C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23903098G>ACA8916327LAMA3c.1464G>A (p.Ala488=)
c.6291G>A (p.Ala2097=)
c.3183G>A (p.Ala1061=)
c.6123G>A (p.Ala2041=)
c.1069G>A
c.1296G>A (p.Ala432=)
n.869G>A
c.6318G>A (p.Ala2106=)
c.6309G>A (p.Ala2103=)
c.6300G>A (p.Ala2100=)
c.6186G>A (p.Ala2062=)
c.4170G>A (p.Ala1390=)
c.1860G>A (p.Ala620=)
n.6559G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23903098G>CCA503335004LAMA3c.1464G>C (p.Ala488=)
c.6291G>C (p.Ala2097=)
c.3183G>C (p.Ala1061=)
c.6123G>C (p.Ala2041=)
c.1069G>C
c.1296G>C (p.Ala432=)
n.869G>C
c.6318G>C (p.Ala2106=)
c.6309G>C (p.Ala2103=)
c.6300G>C (p.Ala2100=)
c.6186G>C (p.Ala2062=)
c.4170G>C (p.Ala1390=)
c.1860G>C (p.Ala620=)
n.6559G>C
 ClinVar
18g.23903098G=CA2290324025LAMA3c.1464G= (p.Ala488=)
c.6291G= (p.Ala2097=)
c.3183G= (p.Ala1061=)
c.6123G= (p.Ala2041=)
c.1069G=
c.1296G= (p.Ala432=)
n.869G=
c.6318G= (p.Ala2106=)
c.6309G= (p.Ala2103=)
c.6300G= (p.Ala2100=)
c.6186G= (p.Ala2062=)
c.4170G= (p.Ala1390=)
c.1860G= (p.Ala620=)
n.6559G=
18g.23903098G>TCA297101542LAMA3c.1464G>T (p.Ala488=)
c.6291G>T (p.Ala2097=)
c.3183G>T (p.Ala1061=)
c.6123G>T (p.Ala2041=)
c.1069G>T
c.1296G>T (p.Ala432=)
n.869G>T
c.6318G>T (p.Ala2106=)
c.6309G>T (p.Ala2103=)
c.6300G>T (p.Ala2100=)
c.6186G>T (p.Ala2062=)
c.4170G>T (p.Ala1390=)
c.1860G>T (p.Ala620=)
n.6559G>T
 dbSNP gnomAD v3 gnomAD v4
18g.23903099C>ACA402049507LAMA3c.1465C>A (p.Leu489Met)
c.6292C>A (p.Leu2098Met)
c.3184C>A (p.Leu1062Met)
c.6124C>A (p.Leu2042Met)
c.1070C>A
c.1297C>A (p.Leu433Met)
n.870C>A
c.6319C>A (p.Leu2107Met)
c.6310C>A (p.Leu2104Met)
c.6301C>A (p.Leu2101Met)
c.6187C>A (p.Leu2063Met)
c.4171C>A (p.Leu1391Met)
c.1861C>A (p.Leu621Met)
n.6560C>A
 gnomAD v4
18g.23903099C>GCA402049509LAMA3c.1465C>G (p.Leu489Val)
c.6292C>G (p.Leu2098Val)
c.3184C>G (p.Leu1062Val)
c.6124C>G (p.Leu2042Val)
c.1070C>G
c.1297C>G (p.Leu433Val)
n.870C>G
c.6319C>G (p.Leu2107Val)
c.6310C>G (p.Leu2104Val)
c.6301C>G (p.Leu2101Val)
c.6187C>G (p.Leu2063Val)
c.4171C>G (p.Leu1391Val)
c.1861C>G (p.Leu621Val)
n.6560C>G
18g.23903099C>TCA503335009LAMA3c.1465C>T (p.Leu489=)
c.6292C>T (p.Leu2098=)
c.3184C>T (p.Leu1062=)
c.6124C>T (p.Leu2042=)
c.1070C>T
c.1297C>T (p.Leu433=)
n.870C>T
c.6319C>T (p.Leu2107=)
c.6310C>T (p.Leu2104=)
c.6301C>T (p.Leu2101=)
c.6187C>T (p.Leu2063=)
c.4171C>T (p.Leu1391=)
c.1861C>T (p.Leu621=)
n.6560C>T
18g.23903100T>ACA402049515LAMA3c.1466T>A (p.Leu489Gln)
c.6293T>A (p.Leu2098Gln)
c.3185T>A (p.Leu1062Gln)
c.6125T>A (p.Leu2042Gln)
c.1071T>A
c.1298T>A (p.Leu433Gln)
n.871T>A
c.6320T>A (p.Leu2107Gln)
c.6311T>A (p.Leu2104Gln)
c.6302T>A (p.Leu2101Gln)
c.6188T>A (p.Leu2063Gln)
c.4172T>A (p.Leu1391Gln)
c.1862T>A (p.Leu621Gln)
n.6561T>A
18g.23903100T>CCA402049518LAMA3c.1466T>C (p.Leu489Pro)
c.6293T>C (p.Leu2098Pro)
c.3185T>C (p.Leu1062Pro)
c.6125T>C (p.Leu2042Pro)
c.1071T>C
c.1298T>C (p.Leu433Pro)
n.871T>C
c.6320T>C (p.Leu2107Pro)
c.6311T>C (p.Leu2104Pro)
c.6302T>C (p.Leu2101Pro)
c.6188T>C (p.Leu2063Pro)
c.4172T>C (p.Leu1391Pro)
c.1862T>C (p.Leu621Pro)
n.6561T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23903100T>GCA402049522LAMA3c.1466T>G (p.Leu489Arg)
c.6293T>G (p.Leu2098Arg)
c.3185T>G (p.Leu1062Arg)
c.6125T>G (p.Leu2042Arg)
c.1071T>G
c.1298T>G (p.Leu433Arg)
n.871T>G
c.6320T>G (p.Leu2107Arg)
c.6311T>G (p.Leu2104Arg)
c.6302T>G (p.Leu2101Arg)
c.6188T>G (p.Leu2063Arg)
c.4172T>G (p.Leu1391Arg)
c.1862T>G (p.Leu621Arg)
n.6561T>G
18g.23903100T=CA2290324026LAMA3c.1466T= (p.Leu489=)
c.6293T= (p.Leu2098=)
c.3185T= (p.Leu1062=)
c.6125T= (p.Leu2042=)
c.1071T=
c.1298T= (p.Leu433=)
n.871T=
c.6320T= (p.Leu2107=)
c.6311T= (p.Leu2104=)
c.6302T= (p.Leu2101=)
c.6188T= (p.Leu2063=)
c.4172T= (p.Leu1391=)
c.1862T= (p.Leu621=)
n.6561T=
18g.23903101G>ACA503335012LAMA3c.1467G>A (p.Leu489=)
c.6294G>A (p.Leu2098=)
c.3186G>A (p.Leu1062=)
c.6126G>A (p.Leu2042=)
c.1072G>A
c.1299G>A (p.Leu433=)
n.872G>A
c.6321G>A (p.Leu2107=)
c.6312G>A (p.Leu2104=)
c.6303G>A (p.Leu2101=)
c.6189G>A (p.Leu2063=)
c.4173G>A (p.Leu1391=)
c.1863G>A (p.Leu621=)
n.6562G>A
18g.23903101G>CCA503335011LAMA3c.1467G>C (p.Leu489=)
c.6294G>C (p.Leu2098=)
c.3186G>C (p.Leu1062=)
c.6126G>C (p.Leu2042=)
c.1072G>C
c.1299G>C (p.Leu433=)
n.872G>C
c.6321G>C (p.Leu2107=)
c.6312G>C (p.Leu2104=)
c.6303G>C (p.Leu2101=)
c.6189G>C (p.Leu2063=)
c.4173G>C (p.Leu1391=)
c.1863G>C (p.Leu621=)
n.6562G>C
18g.23903101G>TCA503335010LAMA3c.1467G>T (p.Leu489=)
c.6294G>T (p.Leu2098=)
c.3186G>T (p.Leu1062=)
c.6126G>T (p.Leu2042=)
c.1072G>T
c.1299G>T (p.Leu433=)
n.872G>T
c.6321G>T (p.Leu2107=)
c.6312G>T (p.Leu2104=)
c.6303G>T (p.Leu2101=)
c.6189G>T (p.Leu2063=)
c.4173G>T (p.Leu1391=)
c.1863G>T (p.Leu621=)
n.6562G>T
18g.23903102C>ACA402049526LAMA3c.1468C>A (p.Gln490Lys)
c.6295C>A (p.Gln2099Lys)
c.3187C>A (p.Gln1063Lys)
c.6127C>A (p.Gln2043Lys)
c.1073C>A
c.1300C>A (p.Gln434Lys)
n.873C>A
c.6322C>A (p.Gln2108Lys)
c.6313C>A (p.Gln2105Lys)
c.6304C>A (p.Gln2102Lys)
c.6190C>A (p.Gln2064Lys)
c.4174C>A (p.Gln1392Lys)
c.1864C>A (p.Gln622Lys)
n.6563C>A
 gnomAD v4
18g.23903102C>GCA402049529LAMA3c.1468C>G (p.Gln490Glu)
c.6295C>G (p.Gln2099Glu)
c.3187C>G (p.Gln1063Glu)
c.6127C>G (p.Gln2043Glu)
c.1073C>G
c.1300C>G (p.Gln434Glu)
n.873C>G
c.6322C>G (p.Gln2108Glu)
c.6313C>G (p.Gln2105Glu)
c.6304C>G (p.Gln2102Glu)
c.6190C>G (p.Gln2064Glu)
c.4174C>G (p.Gln1392Glu)
c.1864C>G (p.Gln622Glu)
n.6563C>G
18g.23903102C>TCA402049532LAMA3c.1468C>T (p.Gln490Ter)
c.6295C>T (p.Gln2099Ter)
c.3187C>T (p.Gln1063Ter)
c.6127C>T (p.Gln2043Ter)
c.1073C>T
c.1300C>T (p.Gln434Ter)
n.873C>T
c.6322C>T (p.Gln2108Ter)
c.6313C>T (p.Gln2105Ter)
c.6304C>T (p.Gln2102Ter)
c.6190C>T (p.Gln2064Ter)
c.4174C>T (p.Gln1392Ter)
c.1864C>T (p.Gln622Ter)
n.6563C>T
18g.23903103A=CA2290324027LAMA3c.1469A= (p.Gln490=)
c.6296A= (p.Gln2099=)
c.3188A= (p.Gln1063=)
c.6128A= (p.Gln2043=)
c.1074A=
c.1301A= (p.Gln434=)
n.874A=
c.6323A= (p.Gln2108=)
c.6314A= (p.Gln2105=)
c.6305A= (p.Gln2102=)
c.6191A= (p.Gln2064=)
c.4175A= (p.Gln1392=)
c.1865A= (p.Gln622=)
n.6564A=
18g.23903103A>CCA402049536LAMA3c.1469A>C (p.Gln490Pro)
c.6296A>C (p.Gln2099Pro)
c.3188A>C (p.Gln1063Pro)
c.6128A>C (p.Gln2043Pro)
c.1074A>C
c.1301A>C (p.Gln434Pro)
n.874A>C
c.6323A>C (p.Gln2108Pro)
c.6314A>C (p.Gln2105Pro)
c.6305A>C (p.Gln2102Pro)
c.6191A>C (p.Gln2064Pro)
c.4175A>C (p.Gln1392Pro)
c.1865A>C (p.Gln622Pro)
n.6564A>C
18g.23903103A>GCA402049539LAMA3c.1469A>G (p.Gln490Arg)
c.6296A>G (p.Gln2099Arg)
c.3188A>G (p.Gln1063Arg)
c.6128A>G (p.Gln2043Arg)
c.1074A>G
c.1301A>G (p.Gln434Arg)
n.874A>G
c.6323A>G (p.Gln2108Arg)
c.6314A>G (p.Gln2105Arg)
c.6305A>G (p.Gln2102Arg)
c.6191A>G (p.Gln2064Arg)
c.4175A>G (p.Gln1392Arg)
c.1865A>G (p.Gln622Arg)
n.6564A>G
18g.23903103A>TCA297101546LAMA3c.1469A>T (p.Gln490Leu)
c.6296A>T (p.Gln2099Leu)
c.3188A>T (p.Gln1063Leu)
c.6128A>T (p.Gln2043Leu)
c.1074A>T
c.1301A>T (p.Gln434Leu)
n.874A>T
c.6323A>T (p.Gln2108Leu)
c.6314A>T (p.Gln2105Leu)
c.6305A>T (p.Gln2102Leu)
c.6191A>T (p.Gln2064Leu)
c.4175A>T (p.Gln1392Leu)
c.1865A>T (p.Gln622Leu)
n.6564A>T
 dbSNP
18g.23903104G>ACA503335013LAMA3c.1470G>A (p.Gln490=)
c.6297G>A (p.Gln2099=)
c.3189G>A (p.Gln1063=)
c.6129G>A (p.Gln2043=)
c.1075G>A
c.1302G>A (p.Gln434=)
n.875G>A
c.6324G>A (p.Gln2108=)
c.6315G>A (p.Gln2105=)
c.6306G>A (p.Gln2102=)
c.6192G>A (p.Gln2064=)
c.4176G>A (p.Gln1392=)
c.1866G>A (p.Gln622=)
n.6565G>A
18g.23903104G>CCA402049542LAMA3c.1470G>C (p.Gln490His)
c.6297G>C (p.Gln2099His)
c.3189G>C (p.Gln1063His)
c.6129G>C (p.Gln2043His)
c.1075G>C
c.1302G>C (p.Gln434His)
n.875G>C
c.6324G>C (p.Gln2108His)
c.6315G>C (p.Gln2105His)
c.6306G>C (p.Gln2102His)
c.6192G>C (p.Gln2064His)
c.4176G>C (p.Gln1392His)
c.1866G>C (p.Gln622His)
n.6565G>C
18g.23903104G>TCA402049543LAMA3c.1470G>T (p.Gln490His)
c.6297G>T (p.Gln2099His)
c.3189G>T (p.Gln1063His)
c.6129G>T (p.Gln2043His)
c.1075G>T
c.1302G>T (p.Gln434His)
n.875G>T
c.6324G>T (p.Gln2108His)
c.6315G>T (p.Gln2105His)
c.6306G>T (p.Gln2102His)
c.6192G>T (p.Gln2064His)
c.4176G>T (p.Gln1392His)
c.1866G>T (p.Gln622His)
n.6565G>T
18g.23903105C>ACA402049550LAMA3c.1471C>A (p.Leu491Met)
c.6298C>A (p.Leu2100Met)
c.3190C>A (p.Leu1064Met)
c.6130C>A (p.Leu2044Met)
c.1076C>A
c.1303C>A (p.Leu435Met)
n.876C>A
c.6325C>A (p.Leu2109Met)
c.6316C>A (p.Leu2106Met)
c.6307C>A (p.Leu2103Met)
c.6193C>A (p.Leu2065Met)
c.4177C>A (p.Leu1393Met)
c.1867C>A (p.Leu623Met)
n.6566C>A
 gnomAD v4
18g.23903105C>GCA402049547LAMA3c.1471C>G (p.Leu491Val)
c.6298C>G (p.Leu2100Val)
c.3190C>G (p.Leu1064Val)
c.6130C>G (p.Leu2044Val)
c.1076C>G
c.1303C>G (p.Leu435Val)
n.876C>G
c.6325C>G (p.Leu2109Val)
c.6316C>G (p.Leu2106Val)
c.6307C>G (p.Leu2103Val)
c.6193C>G (p.Leu2065Val)
c.4177C>G (p.Leu1393Val)
c.1867C>G (p.Leu623Val)
n.6566C>G
18g.23903105C>TCA503335014LAMA3c.1471C>T (p.Leu491=)
c.6298C>T (p.Leu2100=)
c.3190C>T (p.Leu1064=)
c.6130C>T (p.Leu2044=)
c.1076C>T
c.1303C>T (p.Leu435=)
n.876C>T
c.6325C>T (p.Leu2109=)
c.6316C>T (p.Leu2106=)
c.6307C>T (p.Leu2103=)
c.6193C>T (p.Leu2065=)
c.4177C>T (p.Leu1393=)
c.1867C>T (p.Leu623=)
n.6566C>T
18g.23903106delCA2697555354LAMA3c.1472del (p.Leu491ArgfsTer12)
c.6299del (p.Leu2100ArgfsTer12)
c.3191del (p.Leu1064ArgfsTer12)
c.6131del (p.Leu2044ArgfsTer12)
c.1077del
c.1304del (p.Leu435ArgfsTer12)
n.877del
c.6326del (p.Leu2109ArgfsTer12)
c.6317del (p.Leu2106ArgfsTer12)
c.6308del (p.Leu2103ArgfsTer12)
c.6194del (p.Leu2065ArgfsTer12)
c.4178del (p.Leu1393ArgfsTer12)
c.1868del (p.Leu623ArgfsTer12)
n.6567del
 ClinVar
18g.23903106T>ACA402049553LAMA3c.1472T>A (p.Leu491Gln)
c.6299T>A (p.Leu2100Gln)
c.3191T>A (p.Leu1064Gln)
c.6131T>A (p.Leu2044Gln)
c.1077T>A
c.1304T>A (p.Leu435Gln)
n.877T>A
c.6326T>A (p.Leu2109Gln)
c.6317T>A (p.Leu2106Gln)
c.6308T>A (p.Leu2103Gln)
c.6194T>A (p.Leu2065Gln)
c.4178T>A (p.Leu1393Gln)
c.1868T>A (p.Leu623Gln)
n.6567T>A
18g.23903106T>CCA402049556LAMA3c.1472T>C (p.Leu491Pro)
c.6299T>C (p.Leu2100Pro)
c.3191T>C (p.Leu1064Pro)
c.6131T>C (p.Leu2044Pro)
c.1077T>C
c.1304T>C (p.Leu435Pro)
n.877T>C
c.6326T>C (p.Leu2109Pro)
c.6317T>C (p.Leu2106Pro)
c.6308T>C (p.Leu2103Pro)
c.6194T>C (p.Leu2065Pro)
c.4178T>C (p.Leu1393Pro)
c.1868T>C (p.Leu623Pro)
n.6567T>C
18g.23903106T>GCA402049559LAMA3c.1472T>G (p.Leu491Arg)
c.6299T>G (p.Leu2100Arg)
c.3191T>G (p.Leu1064Arg)
c.6131T>G (p.Leu2044Arg)
c.1077T>G
c.1304T>G (p.Leu435Arg)
n.877T>G
c.6326T>G (p.Leu2109Arg)
c.6317T>G (p.Leu2106Arg)
c.6308T>G (p.Leu2103Arg)
c.6194T>G (p.Leu2065Arg)
c.4178T>G (p.Leu1393Arg)
c.1868T>G (p.Leu623Arg)
n.6567T>G
18g.23903107G>ACA503335015LAMA3c.1473G>A (p.Leu491=)
c.6300G>A (p.Leu2100=)
c.3192G>A (p.Leu1064=)
c.6132G>A (p.Leu2044=)
c.1078G>A
c.1305G>A (p.Leu435=)
n.878G>A
c.6327G>A (p.Leu2109=)
c.6318G>A (p.Leu2106=)
c.6309G>A (p.Leu2103=)
c.6195G>A (p.Leu2065=)
c.4179G>A (p.Leu1393=)
c.1869G>A (p.Leu623=)
n.6568G>A
18g.23903107G>CCA503335016LAMA3c.1473G>C (p.Leu491=)
c.6300G>C (p.Leu2100=)
c.3192G>C (p.Leu1064=)
c.6132G>C (p.Leu2044=)
c.1078G>C
c.1305G>C (p.Leu435=)
n.878G>C
c.6327G>C (p.Leu2109=)
c.6318G>C (p.Leu2106=)
c.6309G>C (p.Leu2103=)
c.6195G>C (p.Leu2065=)
c.4179G>C (p.Leu1393=)
c.1869G>C (p.Leu623=)
n.6568G>C
18g.23903107G>TCA503335017LAMA3c.1473G>T (p.Leu491=)
c.6300G>T (p.Leu2100=)
c.3192G>T (p.Leu1064=)
c.6132G>T (p.Leu2044=)
c.1078G>T
c.1305G>T (p.Leu435=)
n.878G>T
c.6327G>T (p.Leu2109=)
c.6318G>T (p.Leu2106=)
c.6309G>T (p.Leu2103=)
c.6195G>T (p.Leu2065=)
c.4179G>T (p.Leu1393=)
c.1869G>T (p.Leu623=)
n.6568G>T
18g.23903108A>CCA402049562LAMA3c.1474A>C (p.Met492Leu)
c.6301A>C (p.Met2101Leu)
c.3193A>C (p.Met1065Leu)
c.6133A>C (p.Met2045Leu)
c.1079A>C
c.1306A>C (p.Met436Leu)
n.879A>C
c.6328A>C (p.Met2110Leu)
c.6319A>C (p.Met2107Leu)
c.6310A>C (p.Met2104Leu)
c.6196A>C (p.Met2066Leu)
c.4180A>C (p.Met1394Leu)
c.1870A>C (p.Met624Leu)
n.6569A>C
18g.23903108A>GCA402049565LAMA3c.1474A>G (p.Met492Val)
c.6301A>G (p.Met2101Val)
c.3193A>G (p.Met1065Val)
c.6133A>G (p.Met2045Val)
c.1079A>G
c.1306A>G (p.Met436Val)
n.879A>G
c.6328A>G (p.Met2110Val)
c.6319A>G (p.Met2107Val)
c.6310A>G (p.Met2104Val)
c.6196A>G (p.Met2066Val)
c.4180A>G (p.Met1394Val)
c.1870A>G (p.Met624Val)
n.6569A>G
18g.23903108A>TCA402049569LAMA3c.1474A>T (p.Met492Leu)
c.6301A>T (p.Met2101Leu)
c.3193A>T (p.Met1065Leu)
c.6133A>T (p.Met2045Leu)
c.1079A>T
c.1306A>T (p.Met436Leu)
n.879A>T
c.6328A>T (p.Met2110Leu)
c.6319A>T (p.Met2107Leu)
c.6310A>T (p.Met2104Leu)
c.6196A>T (p.Met2066Leu)
c.4180A>T (p.Met1394Leu)
c.1870A>T (p.Met624Leu)
n.6569A>T
18g.23903109T>ACA8916329LAMA3c.1475T>A (p.Met492Lys)
c.6302T>A (p.Met2101Lys)
c.3194T>A (p.Met1065Lys)
c.6134T>A (p.Met2045Lys)
c.1080T>A
c.1307T>A (p.Met436Lys)
n.880T>A
c.6329T>A (p.Met2110Lys)
c.6320T>A (p.Met2107Lys)
c.6311T>A (p.Met2104Lys)
c.6197T>A (p.Met2066Lys)
c.4181T>A (p.Met1394Lys)
c.1871T>A (p.Met624Lys)
n.6570T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903109T>CCA8916328LAMA3c.1475T>C (p.Met492Thr)
c.6302T>C (p.Met2101Thr)
c.3194T>C (p.Met1065Thr)
c.6134T>C (p.Met2045Thr)
c.1080T>C
c.1307T>C (p.Met436Thr)
n.880T>C
c.6329T>C (p.Met2110Thr)
c.6320T>C (p.Met2107Thr)
c.6311T>C (p.Met2104Thr)
c.6197T>C (p.Met2066Thr)
c.4181T>C (p.Met1394Thr)
c.1871T>C (p.Met624Thr)
n.6570T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903109T>GCA402049575LAMA3c.1475T>G (p.Met492Arg)
c.6302T>G (p.Met2101Arg)
c.3194T>G (p.Met1065Arg)
c.6134T>G (p.Met2045Arg)
c.1080T>G
c.1307T>G (p.Met436Arg)
n.880T>G
c.6329T>G (p.Met2110Arg)
c.6320T>G (p.Met2107Arg)
c.6311T>G (p.Met2104Arg)
c.6197T>G (p.Met2066Arg)
c.4181T>G (p.Met1394Arg)
c.1871T>G (p.Met624Arg)
n.6570T>G
18g.23903109T=CA2290324028LAMA3c.1475T= (p.Met492=)
c.6302T= (p.Met2101=)
c.3194T= (p.Met1065=)
c.6134T= (p.Met2045=)
c.1080T=
c.1307T= (p.Met436=)
n.880T=
c.6329T= (p.Met2110=)
c.6320T= (p.Met2107=)
c.6311T= (p.Met2104=)
c.6197T= (p.Met2066=)
c.4181T= (p.Met1394=)
c.1871T= (p.Met624=)
n.6570T=
18g.23903110G>ACA402049580LAMA3c.1476G>A (p.Met492Ile)
c.6303G>A (p.Met2101Ile)
c.3195G>A (p.Met1065Ile)
c.6135G>A (p.Met2045Ile)
c.1081G>A
c.1308G>A (p.Met436Ile)
n.881G>A
c.6330G>A (p.Met2110Ile)
c.6321G>A (p.Met2107Ile)
c.6312G>A (p.Met2104Ile)
c.6198G>A (p.Met2066Ile)
c.4182G>A (p.Met1394Ile)
c.1872G>A (p.Met624Ile)
n.6571G>A
18g.23903110G>CCA402049581LAMA3c.1476G>C (p.Met492Ile)
c.6303G>C (p.Met2101Ile)
c.3195G>C (p.Met1065Ile)
c.6135G>C (p.Met2045Ile)
c.1081G>C
c.1308G>C (p.Met436Ile)
n.881G>C
c.6330G>C (p.Met2110Ile)
c.6321G>C (p.Met2107Ile)
c.6312G>C (p.Met2104Ile)
c.6198G>C (p.Met2066Ile)
c.4182G>C (p.Met1394Ile)
c.1872G>C (p.Met624Ile)
n.6571G>C
18g.23903110G>TCA402049584LAMA3c.1476G>T (p.Met492Ile)
c.6303G>T (p.Met2101Ile)
c.3195G>T (p.Met1065Ile)
c.6135G>T (p.Met2045Ile)
c.1081G>T
c.1308G>T (p.Met436Ile)
n.881G>T
c.6330G>T (p.Met2110Ile)
c.6321G>T (p.Met2107Ile)
c.6312G>T (p.Met2104Ile)
c.6198G>T (p.Met2066Ile)
c.4182G>T (p.Met1394Ile)
c.1872G>T (p.Met624Ile)
n.6571G>T
18g.23903111G>ACA402049591LAMA3c.1477G>A (p.Glu493Lys)
c.6304G>A (p.Glu2102Lys)
c.3196G>A (p.Glu1066Lys)
c.6136G>A (p.Glu2046Lys)
c.1082G>A
c.1309G>A (p.Glu437Lys)
n.882G>A
c.6331G>A (p.Glu2111Lys)
c.6322G>A (p.Glu2108Lys)
c.6313G>A (p.Glu2105Lys)
c.6199G>A (p.Glu2067Lys)
c.4183G>A (p.Glu1395Lys)
c.1873G>A (p.Glu625Lys)
n.6572G>A
18g.23903111G>CCA402049594LAMA3c.1477G>C (p.Glu493Gln)
c.6304G>C (p.Glu2102Gln)
c.3196G>C (p.Glu1066Gln)
c.6136G>C (p.Glu2046Gln)
c.1082G>C
c.1309G>C (p.Glu437Gln)
n.882G>C
c.6331G>C (p.Glu2111Gln)
c.6322G>C (p.Glu2108Gln)
c.6313G>C (p.Glu2105Gln)
c.6199G>C (p.Glu2067Gln)
c.4183G>C (p.Glu1395Gln)
c.1873G>C (p.Glu625Gln)
n.6572G>C
18g.23903111G>TCA402049588LAMA3c.1477G>T (p.Glu493Ter)
c.6304G>T (p.Glu2102Ter)
c.3196G>T (p.Glu1066Ter)
c.6136G>T (p.Glu2046Ter)
c.1082G>T
c.1309G>T (p.Glu437Ter)
n.882G>T
c.6331G>T (p.Glu2111Ter)
c.6322G>T (p.Glu2108Ter)
c.6313G>T (p.Glu2105Ter)
c.6199G>T (p.Glu2067Ter)
c.4183G>T (p.Glu1395Ter)
c.1873G>T (p.Glu625Ter)
n.6572G>T
18g.23903112A>CCA402049596LAMA3c.1478A>C (p.Glu493Ala)
c.6305A>C (p.Glu2102Ala)
c.3197A>C (p.Glu1066Ala)
c.6137A>C (p.Glu2046Ala)
c.1083A>C
c.1310A>C (p.Glu437Ala)
n.883A>C
c.6332A>C (p.Glu2111Ala)
c.6323A>C (p.Glu2108Ala)
c.6314A>C (p.Glu2105Ala)
c.6200A>C (p.Glu2067Ala)
c.4184A>C (p.Glu1395Ala)
c.1874A>C (p.Glu625Ala)
n.6573A>C
18g.23903112A>GCA402049599LAMA3c.1478A>G (p.Glu493Gly)
c.6305A>G (p.Glu2102Gly)
c.3197A>G (p.Glu1066Gly)
c.6137A>G (p.Glu2046Gly)
c.1083A>G
c.1310A>G (p.Glu437Gly)
n.883A>G
c.6332A>G (p.Glu2111Gly)
c.6323A>G (p.Glu2108Gly)
c.6314A>G (p.Glu2105Gly)
c.6200A>G (p.Glu2067Gly)
c.4184A>G (p.Glu1395Gly)
c.1874A>G (p.Glu625Gly)
n.6573A>G
 gnomAD v4
18g.23903112A>TCA402049602LAMA3c.1478A>T (p.Glu493Val)
c.6305A>T (p.Glu2102Val)
c.3197A>T (p.Glu1066Val)
c.6137A>T (p.Glu2046Val)
c.1083A>T
c.1310A>T (p.Glu437Val)
n.883A>T
c.6332A>T (p.Glu2111Val)
c.6323A>T (p.Glu2108Val)
c.6314A>T (p.Glu2105Val)
c.6200A>T (p.Glu2067Val)
c.4184A>T (p.Glu1395Val)
c.1874A>T (p.Glu625Val)
n.6573A>T
18g.23903113G>ACA503335018LAMA3c.1479G>A (p.Glu493=)
c.6306G>A (p.Glu2102=)
c.3198G>A (p.Glu1066=)
c.6138G>A (p.Glu2046=)
c.1084G>A
c.1311G>A (p.Glu437=)
n.884G>A
c.6333G>A (p.Glu2111=)
c.6324G>A (p.Glu2108=)
c.6315G>A (p.Glu2105=)
c.6201G>A (p.Glu2067=)
c.4185G>A (p.Glu1395=)
c.1875G>A (p.Glu625=)
n.6574G>A
 ClinVar gnomAD v4
18g.23903113G>CCA402049606LAMA3c.1479G>C (p.Glu493Asp)
c.6306G>C (p.Glu2102Asp)
c.3198G>C (p.Glu1066Asp)
c.6138G>C (p.Glu2046Asp)
c.1084G>C
c.1311G>C (p.Glu437Asp)
n.884G>C
c.6333G>C (p.Glu2111Asp)
c.6324G>C (p.Glu2108Asp)
c.6315G>C (p.Glu2105Asp)
c.6201G>C (p.Glu2067Asp)
c.4185G>C (p.Glu1395Asp)
c.1875G>C (p.Glu625Asp)
n.6574G>C
18g.23903113G>TCA402049608LAMA3c.1479G>T (p.Glu493Asp)
c.6306G>T (p.Glu2102Asp)
c.3198G>T (p.Glu1066Asp)
c.6138G>T (p.Glu2046Asp)
c.1084G>T
c.1311G>T (p.Glu437Asp)
n.884G>T
c.6333G>T (p.Glu2111Asp)
c.6324G>T (p.Glu2108Asp)
c.6315G>T (p.Glu2105Asp)
c.6201G>T (p.Glu2067Asp)
c.4185G>T (p.Glu1395Asp)
c.1875G>T (p.Glu625Asp)
n.6574G>T
 gnomAD v4
18g.23903114A>CCA402049615LAMA3c.1480A>C (p.Lys494Gln)
c.6307A>C (p.Lys2103Gln)
c.3199A>C (p.Lys1067Gln)
c.6139A>C (p.Lys2047Gln)
c.1085A>C
c.1312A>C (p.Lys438Gln)
n.885A>C
c.6334A>C (p.Lys2112Gln)
c.6325A>C (p.Lys2109Gln)
c.6316A>C (p.Lys2106Gln)
c.6202A>C (p.Lys2068Gln)
c.4186A>C (p.Lys1396Gln)
c.1876A>C (p.Lys626Gln)
n.6575A>C
18g.23903114A>GCA402049611LAMA3c.1480A>G (p.Lys494Glu)
c.6307A>G (p.Lys2103Glu)
c.3199A>G (p.Lys1067Glu)
c.6139A>G (p.Lys2047Glu)
c.1085A>G
c.1312A>G (p.Lys438Glu)
n.885A>G
c.6334A>G (p.Lys2112Glu)
c.6325A>G (p.Lys2109Glu)
c.6316A>G (p.Lys2106Glu)
c.6202A>G (p.Lys2068Glu)
c.4186A>G (p.Lys1396Glu)
c.1876A>G (p.Lys626Glu)
n.6575A>G
18g.23903114A>TCA402049613LAMA3c.1480A>T (p.Lys494Ter)
c.6307A>T (p.Lys2103Ter)
c.3199A>T (p.Lys1067Ter)
c.6139A>T (p.Lys2047Ter)
c.1085A>T
c.1312A>T (p.Lys438Ter)
n.885A>T
c.6334A>T (p.Lys2112Ter)
c.6325A>T (p.Lys2109Ter)
c.6316A>T (p.Lys2106Ter)
c.6202A>T (p.Lys2068Ter)
c.4186A>T (p.Lys1396Ter)
c.1876A>T (p.Lys626Ter)
n.6575A>T
18g.23903117delCA2641295895LAMA3c.1483del (p.Ser495AlafsTer8)
c.6310del (p.Ser2104AlafsTer8)
c.3202del (p.Ser1068AlafsTer8)
c.6142del (p.Ser2048AlafsTer8)
c.1088del
c.1315del (p.Ser439AlafsTer8)
n.888del
c.6337del (p.Ser2113AlafsTer8)
c.6328del (p.Ser2110AlafsTer8)
c.6319del (p.Ser2107AlafsTer8)
c.6205del (p.Ser2069AlafsTer8)
c.4189del (p.Ser1397AlafsTer8)
c.1879del (p.Ser627AlafsTer8)
n.6578del
 gnomAD v4
18g.23903115A>CCA402049619LAMA3c.1481A>C (p.Lys494Thr)
c.6308A>C (p.Lys2103Thr)
c.3200A>C (p.Lys1067Thr)
c.6140A>C (p.Lys2047Thr)
c.1086A>C
c.1313A>C (p.Lys438Thr)
n.886A>C
c.6335A>C (p.Lys2112Thr)
c.6326A>C (p.Lys2109Thr)
c.6317A>C (p.Lys2106Thr)
c.6203A>C (p.Lys2068Thr)
c.4187A>C (p.Lys1396Thr)
c.1877A>C (p.Lys626Thr)
n.6576A>C
18g.23903115A>GCA402049622LAMA3c.1481A>G (p.Lys494Arg)
c.6308A>G (p.Lys2103Arg)
c.3200A>G (p.Lys1067Arg)
c.6140A>G (p.Lys2047Arg)
c.1086A>G
c.1313A>G (p.Lys438Arg)
n.886A>G
c.6335A>G (p.Lys2112Arg)
c.6326A>G (p.Lys2109Arg)
c.6317A>G (p.Lys2106Arg)
c.6203A>G (p.Lys2068Arg)
c.4187A>G (p.Lys1396Arg)
c.1877A>G (p.Lys626Arg)
n.6576A>G
18g.23903115A>TCA402049625LAMA3c.1481A>T (p.Lys494Ile)
c.6308A>T (p.Lys2103Ile)
c.3200A>T (p.Lys1067Ile)
c.6140A>T (p.Lys2047Ile)
c.1086A>T
c.1313A>T (p.Lys438Ile)
n.886A>T
c.6335A>T (p.Lys2112Ile)
c.6326A>T (p.Lys2109Ile)
c.6317A>T (p.Lys2106Ile)
c.6203A>T (p.Lys2068Ile)
c.4187A>T (p.Lys1396Ile)
c.1877A>T (p.Lys626Ile)
n.6576A>T
18g.23903116A=CA2290324029LAMA3c.1482A= (p.Lys494=)
c.6309A= (p.Lys2103=)
c.3201A= (p.Lys1067=)
c.6141A= (p.Lys2047=)
c.1087A=
c.1314A= (p.Lys438=)
n.887A=
c.6336A= (p.Lys2112=)
c.6327A= (p.Lys2109=)
c.6318A= (p.Lys2106=)
c.6204A= (p.Lys2068=)
c.4188A= (p.Lys1396=)
c.1878A= (p.Lys626=)
n.6577A=
18g.23903116A>CCA402049629LAMA3c.1482A>C (p.Lys494Asn)
c.6309A>C (p.Lys2103Asn)
c.3201A>C (p.Lys1067Asn)
c.6141A>C (p.Lys2047Asn)
c.1087A>C
c.1314A>C (p.Lys438Asn)
n.887A>C
c.6336A>C (p.Lys2112Asn)
c.6327A>C (p.Lys2109Asn)
c.6318A>C (p.Lys2106Asn)
c.6204A>C (p.Lys2068Asn)
c.4188A>C (p.Lys1396Asn)
c.1878A>C (p.Lys626Asn)
n.6577A>C
18g.23903116A>GCA297101566LAMA3c.1482A>G (p.Lys494=)
c.6309A>G (p.Lys2103=)
c.3201A>G (p.Lys1067=)
c.6141A>G (p.Lys2047=)
c.1087A>G
c.1314A>G (p.Lys438=)
n.887A>G
c.6336A>G (p.Lys2112=)
c.6327A>G (p.Lys2109=)
c.6318A>G (p.Lys2106=)
c.6204A>G (p.Lys2068=)
c.4188A>G (p.Lys1396=)
c.1878A>G (p.Lys626=)
n.6577A>G
 ClinVar dbSNP gnomAD v2
18g.23903116A>TCA402049631LAMA3c.1482A>T (p.Lys494Asn)
c.6309A>T (p.Lys2103Asn)
c.3201A>T (p.Lys1067Asn)
c.6141A>T (p.Lys2047Asn)
c.1087A>T
c.1314A>T (p.Lys438Asn)
n.887A>T
c.6336A>T (p.Lys2112Asn)
c.6327A>T (p.Lys2109Asn)
c.6318A>T (p.Lys2106Asn)
c.6204A>T (p.Lys2068Asn)
c.4188A>T (p.Lys1396Asn)
c.1878A>T (p.Lys626Asn)
n.6577A>T
18g.23903117A>CCA402049639LAMA3c.1483A>C (p.Ser495Arg)
c.6310A>C (p.Ser2104Arg)
c.3202A>C (p.Ser1068Arg)
c.6142A>C (p.Ser2048Arg)
c.1088A>C
c.1315A>C (p.Ser439Arg)
n.888A>C
c.6337A>C (p.Ser2113Arg)
c.6328A>C (p.Ser2110Arg)
c.6319A>C (p.Ser2107Arg)
c.6205A>C (p.Ser2069Arg)
c.4189A>C (p.Ser1397Arg)
c.1879A>C (p.Ser627Arg)
n.6578A>C
18g.23903117A>GCA402049637LAMA3c.1483A>G (p.Ser495Gly)
c.6310A>G (p.Ser2104Gly)
c.3202A>G (p.Ser1068Gly)
c.6142A>G (p.Ser2048Gly)
c.1088A>G
c.1315A>G (p.Ser439Gly)
n.888A>G
c.6337A>G (p.Ser2113Gly)
c.6328A>G (p.Ser2110Gly)
c.6319A>G (p.Ser2107Gly)
c.6205A>G (p.Ser2069Gly)
c.4189A>G (p.Ser1397Gly)
c.1879A>G (p.Ser627Gly)
n.6578A>G
 gnomAD v4
18g.23903117A>TCA402049634LAMA3c.1483A>T (p.Ser495Cys)
c.6310A>T (p.Ser2104Cys)
c.3202A>T (p.Ser1068Cys)
c.6142A>T (p.Ser2048Cys)
c.1088A>T
c.1315A>T (p.Ser439Cys)
n.888A>T
c.6337A>T (p.Ser2113Cys)
c.6328A>T (p.Ser2110Cys)
c.6319A>T (p.Ser2107Cys)
c.6205A>T (p.Ser2069Cys)
c.4189A>T (p.Ser1397Cys)
c.1879A>T (p.Ser627Cys)
n.6578A>T
18g.23903118G>ACA402049642LAMA3c.1484G>A (p.Ser495Asn)
c.6311G>A (p.Ser2104Asn)
c.3203G>A (p.Ser1068Asn)
c.6143G>A (p.Ser2048Asn)
c.1089G>A
c.1316G>A (p.Ser439Asn)
n.889G>A
c.6338G>A (p.Ser2113Asn)
c.6329G>A (p.Ser2110Asn)
c.6320G>A (p.Ser2107Asn)
c.6206G>A (p.Ser2069Asn)
c.4190G>A (p.Ser1397Asn)
c.1880G>A (p.Ser627Asn)
n.6579G>A
 dbSNP gnomAD v4
18g.23903118G>CCA402049647LAMA3c.1484G>C (p.Ser495Thr)
c.6311G>C (p.Ser2104Thr)
c.3203G>C (p.Ser1068Thr)
c.6143G>C (p.Ser2048Thr)
c.1089G>C
c.1316G>C (p.Ser439Thr)
n.889G>C
c.6338G>C (p.Ser2113Thr)
c.6329G>C (p.Ser2110Thr)
c.6320G>C (p.Ser2107Thr)
c.6206G>C (p.Ser2069Thr)
c.4190G>C (p.Ser1397Thr)
c.1880G>C (p.Ser627Thr)
n.6579G>C
18g.23903118G>TCA402049645LAMA3c.1484G>T (p.Ser495Ile)
c.6311G>T (p.Ser2104Ile)
c.3203G>T (p.Ser1068Ile)
c.6143G>T (p.Ser2048Ile)
c.1089G>T
c.1316G>T (p.Ser439Ile)
n.889G>T
c.6338G>T (p.Ser2113Ile)
c.6329G>T (p.Ser2110Ile)
c.6320G>T (p.Ser2107Ile)
c.6206G>T (p.Ser2069Ile)
c.4190G>T (p.Ser1397Ile)
c.1880G>T (p.Ser627Ile)
n.6579G>T
18g.23903119C>ACA402049651LAMA3c.1485C>A (p.Ser495Arg)
c.6312C>A (p.Ser2104Arg)
c.3204C>A (p.Ser1068Arg)
c.6144C>A (p.Ser2048Arg)
c.1090C>A
c.1317C>A (p.Ser439Arg)
n.890C>A
c.6339C>A (p.Ser2113Arg)
c.6330C>A (p.Ser2110Arg)
c.6321C>A (p.Ser2107Arg)
c.6207C>A (p.Ser2069Arg)
c.4191C>A (p.Ser1397Arg)
c.1881C>A (p.Ser627Arg)
n.6580C>A
 gnomAD v4
18g.23903119C>GCA402049654LAMA3c.1485C>G (p.Ser495Arg)
c.6312C>G (p.Ser2104Arg)
c.3204C>G (p.Ser1068Arg)
c.6144C>G (p.Ser2048Arg)
c.1090C>G
c.1317C>G (p.Ser439Arg)
n.890C>G
c.6339C>G (p.Ser2113Arg)
c.6330C>G (p.Ser2110Arg)
c.6321C>G (p.Ser2107Arg)
c.6207C>G (p.Ser2069Arg)
c.4191C>G (p.Ser1397Arg)
c.1881C>G (p.Ser627Arg)
n.6580C>G
 gnomAD v4
18g.23903119C>TCA503335020LAMA3c.1485C>T (p.Ser495=)
c.6312C>T (p.Ser2104=)
c.3204C>T (p.Ser1068=)
c.6144C>T (p.Ser2048=)
c.1090C>T
c.1317C>T (p.Ser439=)
n.890C>T
c.6339C>T (p.Ser2113=)
c.6330C>T (p.Ser2110=)
c.6321C>T (p.Ser2107=)
c.6207C>T (p.Ser2069=)
c.4191C>T (p.Ser1397=)
c.1881C>T (p.Ser627=)
n.6580C>T
 gnomAD v4
18g.23903120C>ACA402049658LAMA3c.1486C>A (p.Gln496Lys)
c.6313C>A (p.Gln2105Lys)
c.3205C>A (p.Gln1069Lys)
c.6145C>A (p.Gln2049Lys)
c.1091C>A
c.1318C>A (p.Gln440Lys)
n.891C>A
c.6340C>A (p.Gln2114Lys)
c.6331C>A (p.Gln2111Lys)
c.6322C>A (p.Gln2108Lys)
c.6208C>A (p.Gln2070Lys)
c.4192C>A (p.Gln1398Lys)
c.1882C>A (p.Gln628Lys)
n.6581C>A
 gnomAD v4
18g.23903120C>GCA402049661LAMA3c.1486C>G (p.Gln496Glu)
c.6313C>G (p.Gln2105Glu)
c.3205C>G (p.Gln1069Glu)
c.6145C>G (p.Gln2049Glu)
c.1091C>G
c.1318C>G (p.Gln440Glu)
n.891C>G
c.6340C>G (p.Gln2114Glu)
c.6331C>G (p.Gln2111Glu)
c.6322C>G (p.Gln2108Glu)
c.6208C>G (p.Gln2070Glu)
c.4192C>G (p.Gln1398Glu)
c.1882C>G (p.Gln628Glu)
n.6581C>G
18g.23903120C>TCA402049663LAMA3c.1486C>T (p.Gln496Ter)
c.6313C>T (p.Gln2105Ter)
c.3205C>T (p.Gln1069Ter)
c.6145C>T (p.Gln2049Ter)
c.1091C>T
c.1318C>T (p.Gln440Ter)
n.891C>T
c.6340C>T (p.Gln2114Ter)
c.6331C>T (p.Gln2111Ter)
c.6322C>T (p.Gln2108Ter)
c.6208C>T (p.Gln2070Ter)
c.4192C>T (p.Gln1398Ter)
c.1882C>T (p.Gln628Ter)
n.6581C>T
18g.23903121A>CCA402049668LAMA3c.1487A>C (p.Gln496Pro)
c.6314A>C (p.Gln2105Pro)
c.3206A>C (p.Gln1069Pro)
c.6146A>C (p.Gln2049Pro)
c.1092A>C
c.1319A>C (p.Gln440Pro)
n.892A>C
c.6341A>C (p.Gln2114Pro)
c.6332A>C (p.Gln2111Pro)
c.6323A>C (p.Gln2108Pro)
c.6209A>C (p.Gln2070Pro)
c.4193A>C (p.Gln1398Pro)
c.1883A>C (p.Gln628Pro)
n.6582A>C
18g.23903121A>GCA402049670LAMA3c.1487A>G (p.Gln496Arg)
c.6314A>G (p.Gln2105Arg)
c.3206A>G (p.Gln1069Arg)
c.6146A>G (p.Gln2049Arg)
c.1092A>G
c.1319A>G (p.Gln440Arg)
n.892A>G
c.6341A>G (p.Gln2114Arg)
c.6332A>G (p.Gln2111Arg)
c.6323A>G (p.Gln2108Arg)
c.6209A>G (p.Gln2070Arg)
c.4193A>G (p.Gln1398Arg)
c.1883A>G (p.Gln628Arg)
n.6582A>G
18g.23903121A>TCA402049672LAMA3c.1487A>T (p.Gln496Leu)
c.6314A>T (p.Gln2105Leu)
c.3206A>T (p.Gln1069Leu)
c.6146A>T (p.Gln2049Leu)
c.1092A>T
c.1319A>T (p.Gln440Leu)
n.892A>T
c.6341A>T (p.Gln2114Leu)
c.6332A>T (p.Gln2111Leu)
c.6323A>T (p.Gln2108Leu)
c.6209A>T (p.Gln2070Leu)
c.4193A>T (p.Gln1398Leu)
c.1883A>T (p.Gln628Leu)
n.6582A>T
 gnomAD v4
18g.23903122G>ACA297101575LAMA3c.1488G>A (p.Gln496=)
c.6315G>A (p.Gln2105=)
c.3207G>A (p.Gln1069=)
c.6147G>A (p.Gln2049=)
c.1093G>A
c.1320G>A (p.Gln440=)
n.893G>A
c.6342G>A (p.Gln2114=)
c.6333G>A (p.Gln2111=)
c.6324G>A (p.Gln2108=)
c.6210G>A (p.Gln2070=)
c.4194G>A (p.Gln1398=)
c.1884G>A (p.Gln628=)
n.6583G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23903122G>CCA402049674LAMA3c.1488G>C (p.Gln496His)
c.6315G>C (p.Gln2105His)
c.3207G>C (p.Gln1069His)
c.6147G>C (p.Gln2049His)
c.1093G>C
c.1320G>C (p.Gln440His)
n.893G>C
c.6342G>C (p.Gln2114His)
c.6333G>C (p.Gln2111His)
c.6324G>C (p.Gln2108His)
c.6210G>C (p.Gln2070His)
c.4194G>C (p.Gln1398His)
c.1884G>C (p.Gln628His)
n.6583G>C
18g.23903122G=CA2290324030LAMA3c.1488G= (p.Gln496=)
c.6315G= (p.Gln2105=)
c.3207G= (p.Gln1069=)
c.6147G= (p.Gln2049=)
c.1093G=
c.1320G= (p.Gln440=)
n.893G=
c.6342G= (p.Gln2114=)
c.6333G= (p.Gln2111=)
c.6324G= (p.Gln2108=)
c.6210G= (p.Gln2070=)
c.4194G= (p.Gln1398=)
c.1884G= (p.Gln628=)
n.6583G=
18g.23903122G>TCA402049676LAMA3c.1488G>T (p.Gln496His)
c.6315G>T (p.Gln2105His)
c.3207G>T (p.Gln1069His)
c.6147G>T (p.Gln2049His)
c.1093G>T
c.1320G>T (p.Gln440His)
n.893G>T
c.6342G>T (p.Gln2114His)
c.6333G>T (p.Gln2111His)
c.6324G>T (p.Gln2108His)
c.6210G>T (p.Gln2070His)
c.4194G>T (p.Gln1398His)
c.1884G>T (p.Gln628His)
n.6583G>T
 gnomAD v4
18g.23903123A=CA2290324031LAMA3c.1489A= (p.Lys497=)
c.6316A= (p.Lys2106=)
c.3208A= (p.Lys1070=)
c.6148A= (p.Lys2050=)
c.1094A=
c.1321A= (p.Lys441=)
n.894A=
c.6343A= (p.Lys2115=)
c.6334A= (p.Lys2112=)
c.6325A= (p.Lys2109=)
c.6211A= (p.Lys2071=)
c.4195A= (p.Lys1399=)
c.1885A= (p.Lys629=)
n.6584A=
18g.23903123A>CCA402049679LAMA3c.1489A>C (p.Lys497Gln)
c.6316A>C (p.Lys2106Gln)
c.3208A>C (p.Lys1070Gln)
c.6148A>C (p.Lys2050Gln)
c.1094A>C
c.1321A>C (p.Lys441Gln)
n.894A>C
c.6343A>C (p.Lys2115Gln)
c.6334A>C (p.Lys2112Gln)
c.6325A>C (p.Lys2109Gln)
c.6211A>C (p.Lys2071Gln)
c.4195A>C (p.Lys1399Gln)
c.1885A>C (p.Lys629Gln)
n.6584A>C
18g.23903123A>GCA402049682LAMA3c.1489A>G (p.Lys497Glu)
c.6316A>G (p.Lys2106Glu)
c.3208A>G (p.Lys1070Glu)
c.6148A>G (p.Lys2050Glu)
c.1094A>G
c.1321A>G (p.Lys441Glu)
n.894A>G
c.6343A>G (p.Lys2115Glu)
c.6334A>G (p.Lys2112Glu)
c.6325A>G (p.Lys2109Glu)
c.6211A>G (p.Lys2071Glu)
c.4195A>G (p.Lys1399Glu)
c.1885A>G (p.Lys629Glu)
n.6584A>G
 dbSNP gnomAD v3 gnomAD v4
18g.23903123A>TCA402049684LAMA3c.1489A>T (p.Lys497Ter)
c.6316A>T (p.Lys2106Ter)
c.3208A>T (p.Lys1070Ter)
c.6148A>T (p.Lys2050Ter)
c.1094A>T
c.1321A>T (p.Lys441Ter)
n.894A>T
c.6343A>T (p.Lys2115Ter)
c.6334A>T (p.Lys2112Ter)
c.6325A>T (p.Lys2109Ter)
c.6211A>T (p.Lys2071Ter)
c.4195A>T (p.Lys1399Ter)
c.1885A>T (p.Lys629Ter)
n.6584A>T
18g.23903124delCA2641295896LAMA3c.1490del (p.Lys497ArgfsTer6)
c.6317del (p.Lys2106ArgfsTer6)
c.3209del (p.Lys1070ArgfsTer6)
c.6149del (p.Lys2050ArgfsTer6)
c.1095del
c.1322del (p.Lys441ArgfsTer6)
n.895del
c.6344del (p.Lys2115ArgfsTer6)
c.6335del (p.Lys2112ArgfsTer6)
c.6326del (p.Lys2109ArgfsTer6)
c.6212del (p.Lys2071ArgfsTer6)
c.4196del (p.Lys1399ArgfsTer6)
c.1886del (p.Lys629ArgfsTer6)
n.6585del
 gnomAD v4
18g.23903124A>CCA402049688LAMA3c.1490A>C (p.Lys497Thr)
c.6317A>C (p.Lys2106Thr)
c.3209A>C (p.Lys1070Thr)
c.6149A>C (p.Lys2050Thr)
c.1095A>C
c.1322A>C (p.Lys441Thr)
n.895A>C
c.6344A>C (p.Lys2115Thr)
c.6335A>C (p.Lys2112Thr)
c.6326A>C (p.Lys2109Thr)
c.6212A>C (p.Lys2071Thr)
c.4196A>C (p.Lys1399Thr)
c.1886A>C (p.Lys629Thr)
n.6585A>C
18g.23903124A>GCA402049693LAMA3c.1490A>G (p.Lys497Arg)
c.6317A>G (p.Lys2106Arg)
c.3209A>G (p.Lys1070Arg)
c.6149A>G (p.Lys2050Arg)
c.1095A>G
c.1322A>G (p.Lys441Arg)
n.895A>G
c.6344A>G (p.Lys2115Arg)
c.6335A>G (p.Lys2112Arg)
c.6326A>G (p.Lys2109Arg)
c.6212A>G (p.Lys2071Arg)
c.4196A>G (p.Lys1399Arg)
c.1886A>G (p.Lys629Arg)
n.6585A>G
 gnomAD v4
18g.23903124A>TCA402049691LAMA3c.1490A>T (p.Lys497Met)
c.6317A>T (p.Lys2106Met)
c.3209A>T (p.Lys1070Met)
c.6149A>T (p.Lys2050Met)
c.1095A>T
c.1322A>T (p.Lys441Met)
n.895A>T
c.6344A>T (p.Lys2115Met)
c.6335A>T (p.Lys2112Met)
c.6326A>T (p.Lys2109Met)
c.6212A>T (p.Lys2071Met)
c.4196A>T (p.Lys1399Met)
c.1886A>T (p.Lys629Met)
n.6585A>T
 gnomAD v4
18g.23903125G>ACA503335021LAMA3c.1491G>A (p.Lys497=)
c.6318G>A (p.Lys2106=)
c.3210G>A (p.Lys1070=)
c.6150G>A (p.Lys2050=)
c.1096G>A
c.1323G>A (p.Lys441=)
n.896G>A
c.6345G>A (p.Lys2115=)
c.6336G>A (p.Lys2112=)
c.6327G>A (p.Lys2109=)
c.6213G>A (p.Lys2071=)
c.4197G>A (p.Lys1399=)
c.1887G>A (p.Lys629=)
n.6586G>A
 gnomAD v4
18g.23903125G>CCA402049695LAMA3c.1491G>C (p.Lys497Asn)
c.6318G>C (p.Lys2106Asn)
c.3210G>C (p.Lys1070Asn)
c.6150G>C (p.Lys2050Asn)
c.1096G>C
c.1323G>C (p.Lys441Asn)
n.896G>C
c.6345G>C (p.Lys2115Asn)
c.6336G>C (p.Lys2112Asn)
c.6327G>C (p.Lys2109Asn)
c.6213G>C (p.Lys2071Asn)
c.4197G>C (p.Lys1399Asn)
c.1887G>C (p.Lys629Asn)
n.6586G>C
 gnomAD v4
18g.23903125G>TCA402049698LAMA3c.1491G>T (p.Lys497Asn)
c.6318G>T (p.Lys2106Asn)
c.3210G>T (p.Lys1070Asn)
c.6150G>T (p.Lys2050Asn)
c.1096G>T
c.1323G>T (p.Lys441Asn)
n.896G>T
c.6345G>T (p.Lys2115Asn)
c.6336G>T (p.Lys2112Asn)
c.6327G>T (p.Lys2109Asn)
c.6213G>T (p.Lys2071Asn)
c.4197G>T (p.Lys1399Asn)
c.1887G>T (p.Lys629Asn)
n.6586G>T
18g.23903126G>ACA402049701LAMA3c.1491+1G>A (n.1491+1G>A)
c.6318+1G>A (n.6318+1G>A)
c.3210+1G>A (n.3210+1G>A)
c.6150+1G>A (n.6150+1G>A)
c.1096+1G>A
c.1323+1G>A (n.1323+1G>A)
n.896+1G>A
c.6345+1G>A (n.6345+1G>A)
c.6336+1G>A (n.6336+1G>A)
c.6327+1G>A (n.6327+1G>A)
c.6213+1G>A (n.6213+1G>A)
c.4197+1G>A (n.4197+1G>A)
c.1887+1G>A (n.1887+1G>A)
n.6586+1G>A
 gnomAD v4
18g.23903126G>CCA402049703LAMA3c.1491+1G>C (n.1491+1G>C)
c.6318+1G>C (n.6318+1G>C)
c.3210+1G>C (n.3210+1G>C)
c.6150+1G>C (n.6150+1G>C)
c.1096+1G>C
c.1323+1G>C (n.1323+1G>C)
n.896+1G>C
c.6345+1G>C (n.6345+1G>C)
c.6336+1G>C (n.6336+1G>C)
c.6327+1G>C (n.6327+1G>C)
c.6213+1G>C (n.6213+1G>C)
c.4197+1G>C (n.4197+1G>C)
c.1887+1G>C (n.1887+1G>C)
n.6586+1G>C
18g.23903126G>TCA402049705LAMA3c.1491+1G>T (n.1491+1G>T)
c.6318+1G>T (n.6318+1G>T)
c.3210+1G>T (n.3210+1G>T)
c.6150+1G>T (n.6150+1G>T)
c.1096+1G>T
c.1323+1G>T (n.1323+1G>T)
n.896+1G>T
c.6345+1G>T (n.6345+1G>T)
c.6336+1G>T (n.6336+1G>T)
c.6327+1G>T (n.6327+1G>T)
c.6213+1G>T (n.6213+1G>T)
c.4197+1G>T (n.4197+1G>T)
c.1887+1G>T (n.1887+1G>T)
n.6586+1G>T
18g.23903127T>ACA402049708LAMA3c.1491+2T>A (n.1491+2T>A)
c.6318+2T>A (n.6318+2T>A)
c.3210+2T>A (n.3210+2T>A)
c.6150+2T>A (n.6150+2T>A)
c.1096+2T>A
c.1323+2T>A (n.1323+2T>A)
n.896+2T>A
c.6345+2T>A (n.6345+2T>A)
c.6336+2T>A (n.6336+2T>A)
c.6327+2T>A (n.6327+2T>A)
c.6213+2T>A (n.6213+2T>A)
c.4197+2T>A (n.4197+2T>A)
c.1887+2T>A (n.1887+2T>A)
n.6586+2T>A
18g.23903127T>CCA16041935LAMA3c.1491+2T>C (n.1491+2T>C)
c.6318+2T>C (n.6318+2T>C)
c.3210+2T>C (n.3210+2T>C)
c.6150+2T>C (n.6150+2T>C)
c.1096+2T>C
c.1323+2T>C (n.1323+2T>C)
n.896+2T>C
c.6345+2T>C (n.6345+2T>C)
c.6336+2T>C (n.6336+2T>C)
c.6327+2T>C (n.6327+2T>C)
c.6213+2T>C (n.6213+2T>C)
c.4197+2T>C (n.4197+2T>C)
c.1887+2T>C (n.1887+2T>C)
n.6586+2T>C
 ClinVar dbSNP gnomAD v4
18g.23903127T>GCA402049711LAMA3c.1491+2T>G (n.1491+2T>G)
c.6318+2T>G (n.6318+2T>G)
c.3210+2T>G (n.3210+2T>G)
c.6150+2T>G (n.6150+2T>G)
c.1096+2T>G
c.1323+2T>G (n.1323+2T>G)
n.896+2T>G
c.6345+2T>G (n.6345+2T>G)
c.6336+2T>G (n.6336+2T>G)
c.6327+2T>G (n.6327+2T>G)
c.6213+2T>G (n.6213+2T>G)
c.4197+2T>G (n.4197+2T>G)
c.1887+2T>G (n.1887+2T>G)
n.6586+2T>G
18g.23903127T=CA2290324032LAMA3c.1491+2T= (n.1491+2T=)
c.6318+2T= (n.6318+2T=)
c.3210+2T= (n.3210+2T=)
c.6150+2T= (n.6150+2T=)
c.1096+2T=
c.1323+2T= (n.1323+2T=)
n.896+2T=
c.6345+2T= (n.6345+2T=)
c.6336+2T= (n.6336+2T=)
c.6327+2T= (n.6327+2T=)
c.6213+2T= (n.6213+2T=)
c.4197+2T= (n.4197+2T=)
c.1887+2T= (n.1887+2T=)
n.6586+2T=
18g.23903128delCA2576472835LAMA3c.1491+3del (n.1491+3del)
c.6318+3del (n.6318+3del)
c.3210+3del (n.3210+3del)
c.6150+3del (n.6150+3del)
c.1096+3del
c.1323+3del (n.1323+3del)
n.896+3del
c.6345+3del (n.6345+3del)
c.6336+3del (n.6336+3del)
c.6327+3del (n.6327+3del)
c.6213+3del (n.6213+3del)
c.4197+3del (n.4197+3del)
c.1887+3del (n.1887+3del)
n.6586+3del
18g.23903128A>GCA2641295897LAMA3c.1491+3A>G (n.1491+3A>G)
c.6318+3A>G (n.6318+3A>G)
c.3210+3A>G (n.3210+3A>G)
c.6150+3A>G (n.6150+3A>G)
c.1096+3A>G
c.1323+3A>G (n.1323+3A>G)
n.896+3A>G
c.6345+3A>G (n.6345+3A>G)
c.6336+3A>G (n.6336+3A>G)
c.6327+3A>G (n.6327+3A>G)
c.6213+3A>G (n.6213+3A>G)
c.4197+3A>G (n.4197+3A>G)
c.1887+3A>G (n.1887+3A>G)
n.6586+3A>G
 gnomAD v4
18g.23903131G>ACA2641295899LAMA3c.1491+6G>A (n.1491+6G>A)
c.6318+6G>A (n.6318+6G>A)
c.3210+6G>A (n.3210+6G>A)
c.6150+6G>A (n.6150+6G>A)
c.1096+6G>A
c.1323+6G>A (n.1323+6G>A)
n.896+6G>A
c.6345+6G>A (n.6345+6G>A)
c.6336+6G>A (n.6336+6G>A)
c.6327+6G>A (n.6327+6G>A)
c.6213+6G>A (n.6213+6G>A)
c.4197+6G>A (n.4197+6G>A)
c.1887+6G>A (n.1887+6G>A)
n.6586+6G>A
 gnomAD v4
18g.23903131G>CCA2641295898LAMA3c.1491+6G>C (n.1491+6G>C)
c.6318+6G>C (n.6318+6G>C)
c.3210+6G>C (n.3210+6G>C)
c.6150+6G>C (n.6150+6G>C)
c.1096+6G>C
c.1323+6G>C (n.1323+6G>C)
n.896+6G>C
c.6345+6G>C (n.6345+6G>C)
c.6336+6G>C (n.6336+6G>C)
c.6327+6G>C (n.6327+6G>C)
c.6213+6G>C (n.6213+6G>C)
c.4197+6G>C (n.4197+6G>C)
c.1887+6G>C (n.1887+6G>C)
n.6586+6G>C
 gnomAD v4
18g.23903132G>ACA2641295900LAMA3c.1491+7G>A (n.1491+7G>A)
c.6318+7G>A (n.6318+7G>A)
c.3210+7G>A (n.3210+7G>A)
c.6150+7G>A (n.6150+7G>A)
c.1096+7G>A
c.1323+7G>A (n.1323+7G>A)
n.896+7G>A
c.6345+7G>A (n.6345+7G>A)
c.6336+7G>A (n.6336+7G>A)
c.6327+7G>A (n.6327+7G>A)
c.6213+7G>A (n.6213+7G>A)
c.4197+7G>A (n.4197+7G>A)
c.1887+7G>A (n.1887+7G>A)
n.6586+7G>A
 gnomAD v4
18g.23903133_23903134insCCA2641295903LAMA3c.1491+8_1491+9insC (n.1491+8_1491+9insC)
c.6318+8_6318+9insC (n.6318+8_6318+9insC)
c.3210+8_3210+9insC (n.3210+8_3210+9insC)
c.6150+8_6150+9insC (n.6150+8_6150+9insC)
c.1096+8_1096+9insC
c.1323+8_1323+9insC (n.1323+8_1323+9insC)
n.896+8_896+9insC
c.6345+8_6345+9insC (n.6345+8_6345+9insC)
c.6336+8_6336+9insC (n.6336+8_6336+9insC)
c.6327+8_6327+9insC (n.6327+8_6327+9insC)
c.6213+8_6213+9insC (n.6213+8_6213+9insC)
c.4197+8_4197+9insC (n.4197+8_4197+9insC)
c.1887+8_1887+9insC (n.1887+8_1887+9insC)
n.6586+8_6586+9insC
 gnomAD v4
18g.23903134A>CCA2641295901LAMA3c.1491+9A>C (n.1491+9A>C)
c.6318+9A>C (n.6318+9A>C)
c.3210+9A>C (n.3210+9A>C)
c.6150+9A>C (n.6150+9A>C)
c.1096+9A>C
c.1323+9A>C (n.1323+9A>C)
n.896+9A>C
c.6345+9A>C (n.6345+9A>C)
c.6336+9A>C (n.6336+9A>C)
c.6327+9A>C (n.6327+9A>C)
c.6213+9A>C (n.6213+9A>C)
c.4197+9A>C (n.4197+9A>C)
c.1887+9A>C (n.1887+9A>C)
n.6586+9A>C
 gnomAD v4
18g.23903134A>GCA2641295902LAMA3c.1491+9A>G (n.1491+9A>G)
c.6318+9A>G (n.6318+9A>G)
c.3210+9A>G (n.3210+9A>G)
c.6150+9A>G (n.6150+9A>G)
c.1096+9A>G
c.1323+9A>G (n.1323+9A>G)
n.896+9A>G
c.6345+9A>G (n.6345+9A>G)
c.6336+9A>G (n.6336+9A>G)
c.6327+9A>G (n.6327+9A>G)
c.6213+9A>G (n.6213+9A>G)
c.4197+9A>G (n.4197+9A>G)
c.1887+9A>G (n.1887+9A>G)
n.6586+9A>G
 gnomAD v4
18g.23903135A>GCA2576472836LAMA3c.1491+10A>G (n.1491+10A>G)
c.6318+10A>G (n.6318+10A>G)
c.3210+10A>G (n.3210+10A>G)
c.6150+10A>G (n.6150+10A>G)
c.1096+10A>G
c.1323+10A>G (n.1323+10A>G)
n.896+10A>G
c.6345+10A>G (n.6345+10A>G)
c.6336+10A>G (n.6336+10A>G)
c.6327+10A>G (n.6327+10A>G)
c.6213+10A>G (n.6213+10A>G)
c.4197+10A>G (n.4197+10A>G)
c.1887+10A>G (n.1887+10A>G)
n.6586+10A>G
 gnomAD v4
18g.23903135_23903136insCCA2641295904LAMA3c.1491+10_1491+11insC (n.1491+10_1491+11insC)
c.6318+10_6318+11insC (n.6318+10_6318+11insC)
c.3210+10_3210+11insC (n.3210+10_3210+11insC)
c.6150+10_6150+11insC (n.6150+10_6150+11insC)
c.1096+10_1096+11insC
c.1323+10_1323+11insC (n.1323+10_1323+11insC)
n.896+10_896+11insC
c.6345+10_6345+11insC (n.6345+10_6345+11insC)
c.6336+10_6336+11insC (n.6336+10_6336+11insC)
c.6327+10_6327+11insC (n.6327+10_6327+11insC)
c.6213+10_6213+11insC (n.6213+10_6213+11insC)
c.4197+10_4197+11insC (n.4197+10_4197+11insC)
c.1887+10_1887+11insC (n.1887+10_1887+11insC)
n.6586+10_6586+11insC
 gnomAD v4
18g.23903136T>ACA2641295905LAMA3c.1491+11T>A (n.1491+11T>A)
c.6318+11T>A (n.6318+11T>A)
c.3210+11T>A (n.3210+11T>A)
c.6150+11T>A (n.6150+11T>A)
c.1096+11T>A
c.1323+11T>A (n.1323+11T>A)
n.896+11T>A
c.6345+11T>A (n.6345+11T>A)
c.6336+11T>A (n.6336+11T>A)
c.6327+11T>A (n.6327+11T>A)
c.6213+11T>A (n.6213+11T>A)
c.4197+11T>A (n.4197+11T>A)
c.1887+11T>A (n.1887+11T>A)
n.6586+11T>A
 gnomAD v4
18g.23903136T>CCA8916330LAMA3c.1491+11T>C (n.1491+11T>C)
c.6318+11T>C (n.6318+11T>C)
c.3210+11T>C (n.3210+11T>C)
c.6150+11T>C (n.6150+11T>C)
c.1096+11T>C
c.1323+11T>C (n.1323+11T>C)
n.896+11T>C
c.6345+11T>C (n.6345+11T>C)
c.6336+11T>C (n.6336+11T>C)
c.6327+11T>C (n.6327+11T>C)
c.6213+11T>C (n.6213+11T>C)
c.4197+11T>C (n.4197+11T>C)
c.1887+11T>C (n.1887+11T>C)
n.6586+11T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903136T=CA2290324033LAMA3c.1491+11T= (n.1491+11T=)
c.6318+11T= (n.6318+11T=)
c.3210+11T= (n.3210+11T=)
c.6150+11T= (n.6150+11T=)
c.1096+11T=
c.1323+11T= (n.1323+11T=)
n.896+11T=
c.6345+11T= (n.6345+11T=)
c.6336+11T= (n.6336+11T=)
c.6327+11T= (n.6327+11T=)
c.6213+11T= (n.6213+11T=)
c.4197+11T= (n.4197+11T=)
c.1887+11T= (n.1887+11T=)
n.6586+11T=
18g.23903137A=CA2290324034LAMA3c.1491+12A= (n.1491+12A=)
c.6318+12A= (n.6318+12A=)
c.3210+12A= (n.3210+12A=)
c.6150+12A= (n.6150+12A=)
c.1096+12A=
c.1323+12A= (n.1323+12A=)
n.896+12A=
c.6345+12A= (n.6345+12A=)
c.6336+12A= (n.6336+12A=)
c.6327+12A= (n.6327+12A=)
c.6213+12A= (n.6213+12A=)
c.4197+12A= (n.4197+12A=)
c.1887+12A= (n.1887+12A=)
n.6586+12A=
18g.23903137A>GCA2290324035LAMA3c.1491+12A>G (n.1491+12A>G)
c.6318+12A>G (n.6318+12A>G)
c.3210+12A>G (n.3210+12A>G)
c.6150+12A>G (n.6150+12A>G)
c.1096+12A>G
c.1323+12A>G (n.1323+12A>G)
n.896+12A>G
c.6345+12A>G (n.6345+12A>G)
c.6336+12A>G (n.6336+12A>G)
c.6327+12A>G (n.6327+12A>G)
c.6213+12A>G (n.6213+12A>G)
c.4197+12A>G (n.4197+12A>G)
c.1887+12A>G (n.1887+12A>G)
n.6586+12A>G
 dbSNP gnomAD v4
18g.23903138G>ACA8916331LAMA3c.1491+13G>A (n.1491+13G>A)
c.6318+13G>A (n.6318+13G>A)
c.3210+13G>A (n.3210+13G>A)
c.6150+13G>A (n.6150+13G>A)
c.1096+13G>A
c.1323+13G>A (n.1323+13G>A)
n.896+13G>A
c.6345+13G>A (n.6345+13G>A)
c.6336+13G>A (n.6336+13G>A)
c.6327+13G>A (n.6327+13G>A)
c.6213+13G>A (n.6213+13G>A)
c.4197+13G>A (n.4197+13G>A)
c.1887+13G>A (n.1887+13G>A)
n.6586+13G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903138G=CA2290324036LAMA3c.1491+13G= (n.1491+13G=)
c.6318+13G= (n.6318+13G=)
c.3210+13G= (n.3210+13G=)
c.6150+13G= (n.6150+13G=)
c.1096+13G=
c.1323+13G= (n.1323+13G=)
n.896+13G=
c.6345+13G= (n.6345+13G=)
c.6336+13G= (n.6336+13G=)
c.6327+13G= (n.6327+13G=)
c.6213+13G= (n.6213+13G=)
c.4197+13G= (n.4197+13G=)
c.1887+13G= (n.1887+13G=)
n.6586+13G=
18g.23903138G>TCA2641295907LAMA3c.1491+13G>T (n.1491+13G>T)
c.6318+13G>T (n.6318+13G>T)
c.3210+13G>T (n.3210+13G>T)
c.6150+13G>T (n.6150+13G>T)
c.1096+13G>T
c.1323+13G>T (n.1323+13G>T)
n.896+13G>T
c.6345+13G>T (n.6345+13G>T)
c.6336+13G>T (n.6336+13G>T)
c.6327+13G>T (n.6327+13G>T)
c.6213+13G>T (n.6213+13G>T)
c.4197+13G>T (n.4197+13G>T)
c.1887+13G>T (n.1887+13G>T)
n.6586+13G>T
 gnomAD v4
18g.23903141_23903143delCA2641295906LAMA3c.1491+16_1491+18del (n.1491+16_1491+18del)
c.6318+16_6318+18del (n.6318+16_6318+18del)
c.3210+16_3210+18del (n.3210+16_3210+18del)
c.6150+16_6150+18del (n.6150+16_6150+18del)
c.1096+16_1096+18del
c.1323+16_1323+18del (n.1323+16_1323+18del)
n.896+16_896+18del
c.6345+16_6345+18del (n.6345+16_6345+18del)
c.6336+16_6336+18del (n.6336+16_6336+18del)
c.6327+16_6327+18del (n.6327+16_6327+18del)
c.6213+16_6213+18del (n.6213+16_6213+18del)
c.4197+16_4197+18del (n.4197+16_4197+18del)
c.1887+16_1887+18del (n.1887+16_1887+18del)
n.6586+16_6586+18del
 gnomAD v4
18g.23903139T>CCA2641295908LAMA3c.1491+14T>C (n.1491+14T>C)
c.6318+14T>C (n.6318+14T>C)
c.3210+14T>C (n.3210+14T>C)
c.6150+14T>C (n.6150+14T>C)
c.1096+14T>C
c.1323+14T>C (n.1323+14T>C)
n.896+14T>C
c.6345+14T>C (n.6345+14T>C)
c.6336+14T>C (n.6336+14T>C)
c.6327+14T>C (n.6327+14T>C)
c.6213+14T>C (n.6213+14T>C)
c.4197+14T>C (n.4197+14T>C)
c.1887+14T>C (n.1887+14T>C)
n.6586+14T>C
 ClinVar gnomAD v4
18g.23903140T>ACA8916333LAMA3c.1491+15T>A (n.1491+15T>A)
c.6318+15T>A (n.6318+15T>A)
c.3210+15T>A (n.3210+15T>A)
c.6150+15T>A (n.6150+15T>A)
c.1096+15T>A
c.1323+15T>A (n.1323+15T>A)
n.896+15T>A
c.6345+15T>A (n.6345+15T>A)
c.6336+15T>A (n.6336+15T>A)
c.6327+15T>A (n.6327+15T>A)
c.6213+15T>A (n.6213+15T>A)
c.4197+15T>A (n.4197+15T>A)
c.1887+15T>A (n.1887+15T>A)
n.6586+15T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903140T>CCA8916332LAMA3c.1491+15T>C (n.1491+15T>C)
c.6318+15T>C (n.6318+15T>C)
c.3210+15T>C (n.3210+15T>C)
c.6150+15T>C (n.6150+15T>C)
c.1096+15T>C
c.1323+15T>C (n.1323+15T>C)
n.896+15T>C
c.6345+15T>C (n.6345+15T>C)
c.6336+15T>C (n.6336+15T>C)
c.6327+15T>C (n.6327+15T>C)
c.6213+15T>C (n.6213+15T>C)
c.4197+15T>C (n.4197+15T>C)
c.1887+15T>C (n.1887+15T>C)
n.6586+15T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903140T=CA2290324037LAMA3c.1491+15T= (n.1491+15T=)
c.6318+15T= (n.6318+15T=)
c.3210+15T= (n.3210+15T=)
c.6150+15T= (n.6150+15T=)
c.1096+15T=
c.1323+15T= (n.1323+15T=)
n.896+15T=
c.6345+15T= (n.6345+15T=)
c.6336+15T= (n.6336+15T=)
c.6327+15T= (n.6327+15T=)
c.6213+15T= (n.6213+15T=)
c.4197+15T= (n.4197+15T=)
c.1887+15T= (n.1887+15T=)
n.6586+15T=
18g.23903141delCA2641295910LAMA3c.1491+16del (n.1491+16del)
c.6318+16del (n.6318+16del)
c.3210+16del (n.3210+16del)
c.6150+16del (n.6150+16del)
c.1096+16del
c.1323+16del (n.1323+16del)
n.896+16del
c.6345+16del (n.6345+16del)
c.6336+16del (n.6336+16del)
c.6327+16del (n.6327+16del)
c.6213+16del (n.6213+16del)
c.4197+16del (n.4197+16del)
c.1887+16del (n.1887+16del)
n.6586+16del
 gnomAD v4
18g.23903141G>ACA2290324039LAMA3c.1491+16G>A (n.1491+16G>A)
c.6318+16G>A (n.6318+16G>A)
c.3210+16G>A (n.3210+16G>A)
c.6150+16G>A (n.6150+16G>A)
c.1096+16G>A
c.1323+16G>A (n.1323+16G>A)
n.896+16G>A
c.6345+16G>A (n.6345+16G>A)
c.6336+16G>A (n.6336+16G>A)
c.6327+16G>A (n.6327+16G>A)
c.6213+16G>A (n.6213+16G>A)
c.4197+16G>A (n.4197+16G>A)
c.1887+16G>A (n.1887+16G>A)
n.6586+16G>A
 dbSNP gnomAD v4
18g.23903141G>CCA2641295909LAMA3c.1491+16G>C (n.1491+16G>C)
c.6318+16G>C (n.6318+16G>C)
c.3210+16G>C (n.3210+16G>C)
c.6150+16G>C (n.6150+16G>C)
c.1096+16G>C
c.1323+16G>C (n.1323+16G>C)
n.896+16G>C
c.6345+16G>C (n.6345+16G>C)
c.6336+16G>C (n.6336+16G>C)
c.6327+16G>C (n.6327+16G>C)
c.6213+16G>C (n.6213+16G>C)
c.4197+16G>C (n.4197+16G>C)
c.1887+16G>C (n.1887+16G>C)
n.6586+16G>C
 gnomAD v4
18g.23903141G=CA2290324038LAMA3c.1491+16G= (n.1491+16G=)
c.6318+16G= (n.6318+16G=)
c.3210+16G= (n.3210+16G=)
c.6150+16G= (n.6150+16G=)
c.1096+16G=
c.1323+16G= (n.1323+16G=)
n.896+16G=
c.6345+16G= (n.6345+16G=)
c.6336+16G= (n.6336+16G=)
c.6327+16G= (n.6327+16G=)
c.6213+16G= (n.6213+16G=)
c.4197+16G= (n.4197+16G=)
c.1887+16G= (n.1887+16G=)
n.6586+16G=
18g.23903142T>CCA2641295911LAMA3c.1491+17T>C (n.1491+17T>C)
c.6318+17T>C (n.6318+17T>C)
c.3210+17T>C (n.3210+17T>C)
c.6150+17T>C (n.6150+17T>C)
c.1096+17T>C
c.1323+17T>C (n.1323+17T>C)
n.896+17T>C
c.6345+17T>C (n.6345+17T>C)
c.6336+17T>C (n.6336+17T>C)
c.6327+17T>C (n.6327+17T>C)
c.6213+17T>C (n.6213+17T>C)
c.4197+17T>C (n.4197+17T>C)
c.1887+17T>C (n.1887+17T>C)
n.6586+17T>C
 gnomAD v4
18g.23903142T>GCA2576472837LAMA3c.1491+17T>G (n.1491+17T>G)
c.6318+17T>G (n.6318+17T>G)
c.3210+17T>G (n.3210+17T>G)
c.6150+17T>G (n.6150+17T>G)
c.1096+17T>G
c.1323+17T>G (n.1323+17T>G)
n.896+17T>G
c.6345+17T>G (n.6345+17T>G)
c.6336+17T>G (n.6336+17T>G)
c.6327+17T>G (n.6327+17T>G)
c.6213+17T>G (n.6213+17T>G)
c.4197+17T>G (n.4197+17T>G)
c.1887+17T>G (n.1887+17T>G)
n.6586+17T>G
 gnomAD v4
18g.23903143T>CCA2641295912LAMA3c.1491+18T>C (n.1491+18T>C)
c.6318+18T>C (n.6318+18T>C)
c.3210+18T>C (n.3210+18T>C)
c.6150+18T>C (n.6150+18T>C)
c.1096+18T>C
c.1323+18T>C (n.1323+18T>C)
n.896+18T>C
c.6345+18T>C (n.6345+18T>C)
c.6336+18T>C (n.6336+18T>C)
c.6327+18T>C (n.6327+18T>C)
c.6213+18T>C (n.6213+18T>C)
c.4197+18T>C (n.4197+18T>C)
c.1887+18T>C (n.1887+18T>C)
n.6586+18T>C
 gnomAD v4
18g.23903144C>ACA2576472838LAMA3c.1491+19C>A (n.1491+19C>A)
c.6318+19C>A (n.6318+19C>A)
c.3210+19C>A (n.3210+19C>A)
c.6150+19C>A (n.6150+19C>A)
c.1096+19C>A
c.1323+19C>A (n.1323+19C>A)
n.896+19C>A
c.6345+19C>A (n.6345+19C>A)
c.6336+19C>A (n.6336+19C>A)
c.6327+19C>A (n.6327+19C>A)
c.6213+19C>A (n.6213+19C>A)
c.4197+19C>A (n.4197+19C>A)
c.1887+19C>A (n.1887+19C>A)
n.6586+19C>A
 gnomAD v4
18g.23903144C>TCA2847562902LAMA3c.1491+19C>T (n.1491+19C>T)
c.6318+19C>T (n.6318+19C>T)
c.3210+19C>T (n.3210+19C>T)
c.6150+19C>T (n.6150+19C>T)
c.1096+19C>T
c.1323+19C>T (n.1323+19C>T)
n.896+19C>T
c.6345+19C>T (n.6345+19C>T)
c.6336+19C>T (n.6336+19C>T)
c.6327+19C>T (n.6327+19C>T)
c.6213+19C>T (n.6213+19C>T)
c.4197+19C>T (n.4197+19C>T)
c.1887+19C>T (n.1887+19C>T)
n.6586+19C>T
18g.23903145T>CCA2576472839LAMA3c.1491+20T>C (n.1491+20T>C)
c.6318+20T>C (n.6318+20T>C)
c.3210+20T>C (n.3210+20T>C)
c.6150+20T>C (n.6150+20T>C)
c.1096+20T>C
c.1323+20T>C (n.1323+20T>C)
n.896+20T>C
c.6345+20T>C (n.6345+20T>C)
c.6336+20T>C (n.6336+20T>C)
c.6327+20T>C (n.6327+20T>C)
c.6213+20T>C (n.6213+20T>C)
c.4197+20T>C (n.4197+20T>C)
c.1887+20T>C (n.1887+20T>C)
n.6586+20T>C
 gnomAD v4
18g.23903146C>ACA2641295913LAMA3c.1491+21C>A (n.1491+21C>A)
c.6318+21C>A (n.6318+21C>A)
c.3210+21C>A (n.3210+21C>A)
c.6150+21C>A (n.6150+21C>A)
c.1096+21C>A
c.1323+21C>A (n.1323+21C>A)
n.896+21C>A
c.6345+21C>A (n.6345+21C>A)
c.6336+21C>A (n.6336+21C>A)
c.6327+21C>A (n.6327+21C>A)
c.6213+21C>A (n.6213+21C>A)
c.4197+21C>A (n.4197+21C>A)
c.1887+21C>A (n.1887+21C>A)
n.6586+21C>A
 gnomAD v4
18g.23903147T>ACA2641295914LAMA3c.1491+22T>A (n.1491+22T>A)
c.6318+22T>A (n.6318+22T>A)
c.3210+22T>A (n.3210+22T>A)
c.6150+22T>A (n.6150+22T>A)
c.1096+22T>A
c.1323+22T>A (n.1323+22T>A)
n.896+22T>A
c.6345+22T>A (n.6345+22T>A)
c.6336+22T>A (n.6336+22T>A)
c.6327+22T>A (n.6327+22T>A)
c.6213+22T>A (n.6213+22T>A)
c.4197+22T>A (n.4197+22T>A)
c.1887+22T>A (n.1887+22T>A)
n.6586+22T>A
 gnomAD v4
18g.23903147T>CCA628684894LAMA3c.1491+22T>C (n.1491+22T>C)
c.6318+22T>C (n.6318+22T>C)
c.3210+22T>C (n.3210+22T>C)
c.6150+22T>C (n.6150+22T>C)
c.1096+22T>C
c.1323+22T>C (n.1323+22T>C)
n.896+22T>C
c.6345+22T>C (n.6345+22T>C)
c.6336+22T>C (n.6336+22T>C)
c.6327+22T>C (n.6327+22T>C)
c.6213+22T>C (n.6213+22T>C)
c.4197+22T>C (n.4197+22T>C)
c.1887+22T>C (n.1887+22T>C)
n.6586+22T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23903147T=CA2290324040LAMA3c.1491+22T= (n.1491+22T=)
c.6318+22T= (n.6318+22T=)
c.3210+22T= (n.3210+22T=)
c.6150+22T= (n.6150+22T=)
c.1096+22T=
c.1323+22T= (n.1323+22T=)
n.896+22T=
c.6345+22T= (n.6345+22T=)
c.6336+22T= (n.6336+22T=)
c.6327+22T= (n.6327+22T=)
c.6213+22T= (n.6213+22T=)
c.4197+22T= (n.4197+22T=)
c.1887+22T= (n.1887+22T=)
n.6586+22T=
18g.23903148A>GCA2641295915LAMA3c.1491+23A>G (n.1491+23A>G)
c.6318+23A>G (n.6318+23A>G)
c.3210+23A>G (n.3210+23A>G)
c.6150+23A>G (n.6150+23A>G)
c.1096+23A>G
c.1323+23A>G (n.1323+23A>G)
n.896+23A>G
c.6345+23A>G (n.6345+23A>G)
c.6336+23A>G (n.6336+23A>G)
c.6327+23A>G (n.6327+23A>G)
c.6213+23A>G (n.6213+23A>G)
c.4197+23A>G (n.4197+23A>G)
c.1887+23A>G (n.1887+23A>G)
n.6586+23A>G
 gnomAD v4
18g.23903149G>ACA2847562903LAMA3c.1491+24G>A (n.1491+24G>A)
c.6318+24G>A (n.6318+24G>A)
c.3210+24G>A (n.3210+24G>A)
c.6150+24G>A (n.6150+24G>A)
c.1096+24G>A
c.1323+24G>A (n.1323+24G>A)
n.896+24G>A
c.6345+24G>A (n.6345+24G>A)
c.6336+24G>A (n.6336+24G>A)
c.6327+24G>A (n.6327+24G>A)
c.6213+24G>A (n.6213+24G>A)
c.4197+24G>A (n.4197+24G>A)
c.1887+24G>A (n.1887+24G>A)
n.6586+24G>A
18g.23903150A=CA2290324041LAMA3c.1491+25A= (n.1491+25A=)
c.6318+25A= (n.6318+25A=)
c.3210+25A= (n.3210+25A=)
c.6150+25A= (n.6150+25A=)
c.1096+25A=
c.1323+25A= (n.1323+25A=)
n.896+25A=
c.6345+25A= (n.6345+25A=)
c.6336+25A= (n.6336+25A=)
c.6327+25A= (n.6327+25A=)
c.6213+25A= (n.6213+25A=)
c.4197+25A= (n.4197+25A=)
c.1887+25A= (n.1887+25A=)
n.6586+25A=
18g.23903150A>GCA8916334LAMA3c.1491+25A>G (n.1491+25A>G)
c.6318+25A>G (n.6318+25A>G)
c.3210+25A>G (n.3210+25A>G)
c.6150+25A>G (n.6150+25A>G)
c.1096+25A>G
c.1323+25A>G (n.1323+25A>G)
n.896+25A>G
c.6345+25A>G (n.6345+25A>G)
c.6336+25A>G (n.6336+25A>G)
c.6327+25A>G (n.6327+25A>G)
c.6213+25A>G (n.6213+25A>G)
c.4197+25A>G (n.4197+25A>G)
c.1887+25A>G (n.1887+25A>G)
n.6586+25A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903150_23903151insTTTAACCTTCCA2847562904LAMA3c.1491+25_1491+26insTTTAACCTTC (n.1491+25_1491+26insTTTAACCTTC)
c.6318+25_6318+26insTTTAACCTTC (n.6318+25_6318+26insTTTAACCTTC)
c.3210+25_3210+26insTTTAACCTTC (n.3210+25_3210+26insTTTAACCTTC)
c.6150+25_6150+26insTTTAACCTTC (n.6150+25_6150+26insTTTAACCTTC)
c.1096+25_1096+26insTTTAACCTTC
c.1323+25_1323+26insTTTAACCTTC (n.1323+25_1323+26insTTTAACCTTC)
n.896+25_896+26insTTTAACCTTC
c.6345+25_6345+26insTTTAACCTTC (n.6345+25_6345+26insTTTAACCTTC)
c.6336+25_6336+26insTTTAACCTTC (n.6336+25_6336+26insTTTAACCTTC)
c.6327+25_6327+26insTTTAACCTTC (n.6327+25_6327+26insTTTAACCTTC)
c.6213+25_6213+26insTTTAACCTTC (n.6213+25_6213+26insTTTAACCTTC)
c.4197+25_4197+26insTTTAACCTTC (n.4197+25_4197+26insTTTAACCTTC)
c.1887+25_1887+26insTTTAACCTTC (n.1887+25_1887+26insTTTAACCTTC)
n.6586+25_6586+26insTTTAACCTTC
18g.23903151A>TCA2641295916LAMA3c.1491+26A>T (n.1491+26A>T)
c.6318+26A>T (n.6318+26A>T)
c.3210+26A>T (n.3210+26A>T)
c.6150+26A>T (n.6150+26A>T)
c.1096+26A>T
c.1323+26A>T (n.1323+26A>T)
n.896+26A>T
c.6345+26A>T (n.6345+26A>T)
c.6336+26A>T (n.6336+26A>T)
c.6327+26A>T (n.6327+26A>T)
c.6213+26A>T (n.6213+26A>T)
c.4197+26A>T (n.4197+26A>T)
c.1887+26A>T (n.1887+26A>T)
n.6586+26A>T
 gnomAD v4
18g.23903152A=CA2290324042LAMA3c.1491+27A= (n.1491+27A=)
c.6318+27A= (n.6318+27A=)
c.3210+27A= (n.3210+27A=)
c.6150+27A= (n.6150+27A=)
c.1096+27A=
c.1323+27A= (n.1323+27A=)
n.896+27A=
c.6345+27A= (n.6345+27A=)
c.6336+27A= (n.6336+27A=)
c.6327+27A= (n.6327+27A=)
c.6213+27A= (n.6213+27A=)
c.4197+27A= (n.4197+27A=)
c.1887+27A= (n.1887+27A=)
n.6586+27A=
18g.23903152A>GCA777752450LAMA3c.1491+27A>G (n.1491+27A>G)
c.6318+27A>G (n.6318+27A>G)
c.3210+27A>G (n.3210+27A>G)
c.6150+27A>G (n.6150+27A>G)
c.1096+27A>G
c.1323+27A>G (n.1323+27A>G)
n.896+27A>G
c.6345+27A>G (n.6345+27A>G)
c.6336+27A>G (n.6336+27A>G)
c.6327+27A>G (n.6327+27A>G)
c.6213+27A>G (n.6213+27A>G)
c.4197+27A>G (n.4197+27A>G)
c.1887+27A>G (n.1887+27A>G)
n.6586+27A>G
 dbSNP gnomAD v4
18g.23903153_23903154insGCCCA2847562905LAMA3c.1491+28_1491+29insGCC (n.1491+28_1491+29insGCC)
c.6318+28_6318+29insGCC (n.6318+28_6318+29insGCC)
c.3210+28_3210+29insGCC (n.3210+28_3210+29insGCC)
c.6150+28_6150+29insGCC (n.6150+28_6150+29insGCC)
c.1096+28_1096+29insGCC
c.1323+28_1323+29insGCC (n.1323+28_1323+29insGCC)
n.896+28_896+29insGCC
c.6345+28_6345+29insGCC (n.6345+28_6345+29insGCC)
c.6336+28_6336+29insGCC (n.6336+28_6336+29insGCC)
c.6327+28_6327+29insGCC (n.6327+28_6327+29insGCC)
c.6213+28_6213+29insGCC (n.6213+28_6213+29insGCC)
c.4197+28_4197+29insGCC (n.4197+28_4197+29insGCC)
c.1887+28_1887+29insGCC (n.1887+28_1887+29insGCC)
n.6586+28_6586+29insGCC
18g.23903154A>GCA2641295917LAMA3c.1491+29A>G (n.1491+29A>G)
c.6318+29A>G (n.6318+29A>G)
c.3210+29A>G (n.3210+29A>G)
c.6150+29A>G (n.6150+29A>G)
c.1096+29A>G
c.1323+29A>G (n.1323+29A>G)
n.896+29A>G
c.6345+29A>G (n.6345+29A>G)
c.6336+29A>G (n.6336+29A>G)
c.6327+29A>G (n.6327+29A>G)
c.6213+29A>G (n.6213+29A>G)
c.4197+29A>G (n.4197+29A>G)
c.1887+29A>G (n.1887+29A>G)
n.6586+29A>G
 gnomAD v4
18g.23903157_23903158insTTTTACTTTCCA2847562906LAMA3c.1491+32_1491+33insTTTTACTTTC (n.1491+32_1491+33insTTTTACTTTC)
c.6318+32_6318+33insTTTTACTTTC (n.6318+32_6318+33insTTTTACTTTC)
c.3210+32_3210+33insTTTTACTTTC (n.3210+32_3210+33insTTTTACTTTC)
c.6150+32_6150+33insTTTTACTTTC (n.6150+32_6150+33insTTTTACTTTC)
c.1096+32_1096+33insTTTTACTTTC
c.1323+32_1323+33insTTTTACTTTC (n.1323+32_1323+33insTTTTACTTTC)
n.896+32_896+33insTTTTACTTTC
c.6345+32_6345+33insTTTTACTTTC (n.6345+32_6345+33insTTTTACTTTC)
c.6336+32_6336+33insTTTTACTTTC (n.6336+32_6336+33insTTTTACTTTC)
c.6327+32_6327+33insTTTTACTTTC (n.6327+32_6327+33insTTTTACTTTC)
c.6213+32_6213+33insTTTTACTTTC (n.6213+32_6213+33insTTTTACTTTC)
c.4197+32_4197+33insTTTTACTTTC (n.4197+32_4197+33insTTTTACTTTC)
c.1887+32_1887+33insTTTTACTTTC (n.1887+32_1887+33insTTTTACTTTC)
n.6586+32_6586+33insTTTTACTTTC
18g.23903158A=CA2290324043LAMA3c.1491+33A= (n.1491+33A=)
c.6318+33A= (n.6318+33A=)
c.3210+33A= (n.3210+33A=)
c.6150+33A= (n.6150+33A=)
c.1096+33A=
c.1323+33A= (n.1323+33A=)
n.896+33A=
c.6345+33A= (n.6345+33A=)
c.6336+33A= (n.6336+33A=)
c.6327+33A= (n.6327+33A=)
c.6213+33A= (n.6213+33A=)
c.4197+33A= (n.4197+33A=)
c.1887+33A= (n.1887+33A=)
n.6586+33A=
18g.23903158A>GCA2290324044LAMA3c.1491+33A>G (n.1491+33A>G)
c.6318+33A>G (n.6318+33A>G)
c.3210+33A>G (n.3210+33A>G)
c.6150+33A>G (n.6150+33A>G)
c.1096+33A>G
c.1323+33A>G (n.1323+33A>G)
n.896+33A>G
c.6345+33A>G (n.6345+33A>G)
c.6336+33A>G (n.6336+33A>G)
c.6327+33A>G (n.6327+33A>G)
c.6213+33A>G (n.6213+33A>G)
c.4197+33A>G (n.4197+33A>G)
c.1887+33A>G (n.1887+33A>G)
n.6586+33A>G
 dbSNP
18g.23903162delCA2641295918LAMA3c.1491+37del (n.1491+37del)
c.6318+37del (n.6318+37del)
c.3210+37del (n.3210+37del)
c.6150+37del (n.6150+37del)
c.1096+37del
c.1323+37del (n.1323+37del)
n.896+37del
c.6345+37del (n.6345+37del)
c.6336+37del (n.6336+37del)
c.6327+37del (n.6327+37del)
c.6213+37del (n.6213+37del)
c.4197+37del (n.4197+37del)
c.1887+37del (n.1887+37del)
n.6586+37del
 gnomAD v4
18g.23903162A=CA2290324045LAMA3c.1491+37A= (n.1491+37A=)
c.6318+37A= (n.6318+37A=)
c.3210+37A= (n.3210+37A=)
c.6150+37A= (n.6150+37A=)
c.1096+37A=
c.1323+37A= (n.1323+37A=)
n.896+37A=
c.6345+37A= (n.6345+37A=)
c.6336+37A= (n.6336+37A=)
c.6327+37A= (n.6327+37A=)
c.6213+37A= (n.6213+37A=)
c.4197+37A= (n.4197+37A=)
c.1887+37A= (n.1887+37A=)
n.6586+37A=
18g.23903162A>CCA988409521LAMA3c.1491+37A>C (n.1491+37A>C)
c.6318+37A>C (n.6318+37A>C)
c.3210+37A>C (n.3210+37A>C)
c.6150+37A>C (n.6150+37A>C)
c.1096+37A>C
c.1323+37A>C (n.1323+37A>C)
n.896+37A>C
c.6345+37A>C (n.6345+37A>C)
c.6336+37A>C (n.6336+37A>C)
c.6327+37A>C (n.6327+37A>C)
c.6213+37A>C (n.6213+37A>C)
c.4197+37A>C (n.4197+37A>C)
c.1887+37A>C (n.1887+37A>C)
n.6586+37A>C
 dbSNP gnomAD v3 gnomAD v4
18g.23903162A>GCA8916335LAMA3c.1491+37A>G (n.1491+37A>G)
c.6318+37A>G (n.6318+37A>G)
c.3210+37A>G (n.3210+37A>G)
c.6150+37A>G (n.6150+37A>G)
c.1096+37A>G
c.1323+37A>G (n.1323+37A>G)
n.896+37A>G
c.6345+37A>G (n.6345+37A>G)
c.6336+37A>G (n.6336+37A>G)
c.6327+37A>G (n.6327+37A>G)
c.6213+37A>G (n.6213+37A>G)
c.4197+37A>G (n.4197+37A>G)
c.1887+37A>G (n.1887+37A>G)
n.6586+37A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903162A>TCA777752464LAMA3c.1491+37A>T (n.1491+37A>T)
c.6318+37A>T (n.6318+37A>T)
c.3210+37A>T (n.3210+37A>T)
c.6150+37A>T (n.6150+37A>T)
c.1096+37A>T
c.1323+37A>T (n.1323+37A>T)
n.896+37A>T
c.6345+37A>T (n.6345+37A>T)
c.6336+37A>T (n.6336+37A>T)
c.6327+37A>T (n.6327+37A>T)
c.6213+37A>T (n.6213+37A>T)
c.4197+37A>T (n.4197+37A>T)
c.1887+37A>T (n.1887+37A>T)
n.6586+37A>T
 dbSNP gnomAD v4
18g.23903163C>ACA8916336LAMA3c.1491+38C>A (n.1491+38C>A)
c.6318+38C>A (n.6318+38C>A)
c.3210+38C>A (n.3210+38C>A)
c.6150+38C>A (n.6150+38C>A)
c.1096+38C>A
c.1323+38C>A (n.1323+38C>A)
n.896+38C>A
c.6345+38C>A (n.6345+38C>A)
c.6336+38C>A (n.6336+38C>A)
c.6327+38C>A (n.6327+38C>A)
c.6213+38C>A (n.6213+38C>A)
c.4197+38C>A (n.4197+38C>A)
c.1887+38C>A (n.1887+38C>A)
n.6586+38C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23903163C=CA2290324046LAMA3c.1491+38C= (n.1491+38C=)
c.6318+38C= (n.6318+38C=)
c.3210+38C= (n.3210+38C=)
c.6150+38C= (n.6150+38C=)
c.1096+38C=
c.1323+38C= (n.1323+38C=)
n.896+38C=
c.6345+38C= (n.6345+38C=)
c.6336+38C= (n.6336+38C=)
c.6327+38C= (n.6327+38C=)
c.6213+38C= (n.6213+38C=)
c.4197+38C= (n.4197+38C=)
c.1887+38C= (n.1887+38C=)
n.6586+38C=
18g.23903163C>TCA2811822724LAMA3c.1491+38C>T (n.1491+38C>T)
c.6318+38C>T (n.6318+38C>T)
c.3210+38C>T (n.3210+38C>T)
c.6150+38C>T (n.6150+38C>T)
c.1096+38C>T
c.1323+38C>T (n.1323+38C>T)
n.896+38C>T
c.6345+38C>T (n.6345+38C>T)
c.6336+38C>T (n.6336+38C>T)
c.6327+38C>T (n.6327+38C>T)
c.6213+38C>T (n.6213+38C>T)
c.4197+38C>T (n.4197+38C>T)
c.1887+38C>T (n.1887+38C>T)
n.6586+38C>T
18g.23903164A=CA2290324047LAMA3c.1491+39A= (n.1491+39A=)
c.6318+39A= (n.6318+39A=)
c.3210+39A= (n.3210+39A=)
c.6150+39A= (n.6150+39A=)
c.1096+39A=
c.1323+39A= (n.1323+39A=)
n.896+39A=
c.6345+39A= (n.6345+39A=)
c.6336+39A= (n.6336+39A=)
c.6327+39A= (n.6327+39A=)
c.6213+39A= (n.6213+39A=)
c.4197+39A= (n.4197+39A=)
c.1887+39A= (n.1887+39A=)
n.6586+39A=
18g.23903164A>CCA8916337LAMA3c.1491+39A>C (n.1491+39A>C)
c.6318+39A>C (n.6318+39A>C)
c.3210+39A>C (n.3210+39A>C)
c.6150+39A>C (n.6150+39A>C)
c.1096+39A>C
c.1323+39A>C (n.1323+39A>C)
n.896+39A>C
c.6345+39A>C (n.6345+39A>C)
c.6336+39A>C (n.6336+39A>C)
c.6327+39A>C (n.6327+39A>C)
c.6213+39A>C (n.6213+39A>C)
c.4197+39A>C (n.4197+39A>C)
c.1887+39A>C (n.1887+39A>C)
n.6586+39A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903164A>GCA2290324048LAMA3c.1491+39A>G (n.1491+39A>G)
c.6318+39A>G (n.6318+39A>G)
c.3210+39A>G (n.3210+39A>G)
c.6150+39A>G (n.6150+39A>G)
c.1096+39A>G
c.1323+39A>G (n.1323+39A>G)
n.896+39A>G
c.6345+39A>G (n.6345+39A>G)
c.6336+39A>G (n.6336+39A>G)
c.6327+39A>G (n.6327+39A>G)
c.6213+39A>G (n.6213+39A>G)
c.4197+39A>G (n.4197+39A>G)
c.1887+39A>G (n.1887+39A>G)
n.6586+39A>G
 dbSNP gnomAD v4
18g.23903165T>CCA628684895LAMA3c.1491+40T>C (n.1491+40T>C)
c.6318+40T>C (n.6318+40T>C)
c.3210+40T>C (n.3210+40T>C)
c.6150+40T>C (n.6150+40T>C)
c.1096+40T>C
c.1323+40T>C (n.1323+40T>C)
n.896+40T>C
c.6345+40T>C (n.6345+40T>C)
c.6336+40T>C (n.6336+40T>C)
c.6327+40T>C (n.6327+40T>C)
c.6213+40T>C (n.6213+40T>C)
c.4197+40T>C (n.4197+40T>C)
c.1887+40T>C (n.1887+40T>C)
n.6586+40T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23903165T=CA2290324049LAMA3c.1491+40T= (n.1491+40T=)
c.6318+40T= (n.6318+40T=)
c.3210+40T= (n.3210+40T=)
c.6150+40T= (n.6150+40T=)
c.1096+40T=
c.1323+40T= (n.1323+40T=)
n.896+40T=
c.6345+40T= (n.6345+40T=)
c.6336+40T= (n.6336+40T=)
c.6327+40T= (n.6327+40T=)
c.6213+40T= (n.6213+40T=)
c.4197+40T= (n.4197+40T=)
c.1887+40T= (n.1887+40T=)
n.6586+40T=
18g.23903168T>ACA2641295919LAMA3c.1491+43T>A (n.1491+43T>A)
c.6318+43T>A (n.6318+43T>A)
c.3210+43T>A (n.3210+43T>A)
c.6150+43T>A (n.6150+43T>A)
c.1096+43T>A
c.1323+43T>A (n.1323+43T>A)
n.896+43T>A
c.6345+43T>A (n.6345+43T>A)
c.6336+43T>A (n.6336+43T>A)
c.6327+43T>A (n.6327+43T>A)
c.6213+43T>A (n.6213+43T>A)
c.4197+43T>A (n.4197+43T>A)
c.1887+43T>A (n.1887+43T>A)
n.6586+43T>A
 gnomAD v4
18g.23903168T>CCA2641295920LAMA3c.1491+43T>C (n.1491+43T>C)
c.6318+43T>C (n.6318+43T>C)
c.3210+43T>C (n.3210+43T>C)
c.6150+43T>C (n.6150+43T>C)
c.1096+43T>C
c.1323+43T>C (n.1323+43T>C)
n.896+43T>C
c.6345+43T>C (n.6345+43T>C)
c.6336+43T>C (n.6336+43T>C)
c.6327+43T>C (n.6327+43T>C)
c.6213+43T>C (n.6213+43T>C)
c.4197+43T>C (n.4197+43T>C)
c.1887+43T>C (n.1887+43T>C)
n.6586+43T>C
 gnomAD v4
18g.23903168T>GCA2641295921LAMA3c.1491+43T>G (n.1491+43T>G)
c.6318+43T>G (n.6318+43T>G)
c.3210+43T>G (n.3210+43T>G)
c.6150+43T>G (n.6150+43T>G)
c.1096+43T>G
c.1323+43T>G (n.1323+43T>G)
n.896+43T>G
c.6345+43T>G (n.6345+43T>G)
c.6336+43T>G (n.6336+43T>G)
c.6327+43T>G (n.6327+43T>G)
c.6213+43T>G (n.6213+43T>G)
c.4197+43T>G (n.4197+43T>G)
c.1887+43T>G (n.1887+43T>G)
n.6586+43T>G
 gnomAD v4
18g.23903169A>TCA2811822725LAMA3c.1491+44A>T (n.1491+44A>T)
c.6318+44A>T (n.6318+44A>T)
c.3210+44A>T (n.3210+44A>T)
c.6150+44A>T (n.6150+44A>T)
c.1096+44A>T
c.1323+44A>T (n.1323+44A>T)
n.896+44A>T
c.6345+44A>T (n.6345+44A>T)
c.6336+44A>T (n.6336+44A>T)
c.6327+44A>T (n.6327+44A>T)
c.6213+44A>T (n.6213+44A>T)
c.4197+44A>T (n.4197+44A>T)
c.1887+44A>T (n.1887+44A>T)
n.6586+44A>T
18g.23903170A=CA2290324050LAMA3c.1491+45A= (n.1491+45A=)
c.6318+45A= (n.6318+45A=)
c.3210+45A= (n.3210+45A=)
c.6150+45A= (n.6150+45A=)
c.1096+45A=
c.1323+45A= (n.1323+45A=)
n.896+45A=
c.6345+45A= (n.6345+45A=)
c.6336+45A= (n.6336+45A=)
c.6327+45A= (n.6327+45A=)
c.6213+45A= (n.6213+45A=)
c.4197+45A= (n.4197+45A=)
c.1887+45A= (n.1887+45A=)
n.6586+45A=
18g.23903170A>GCA2290324051LAMA3c.1491+45A>G (n.1491+45A>G)
c.6318+45A>G (n.6318+45A>G)
c.3210+45A>G (n.3210+45A>G)
c.6150+45A>G (n.6150+45A>G)
c.1096+45A>G
c.1323+45A>G (n.1323+45A>G)
n.896+45A>G
c.6345+45A>G (n.6345+45A>G)
c.6336+45A>G (n.6336+45A>G)
c.6327+45A>G (n.6327+45A>G)
c.6213+45A>G (n.6213+45A>G)
c.4197+45A>G (n.4197+45A>G)
c.1887+45A>G (n.1887+45A>G)
n.6586+45A>G
 dbSNP gnomAD v4
18g.23903172T>ACA2641295922LAMA3c.1491+47T>A (n.1491+47T>A)
c.6318+47T>A (n.6318+47T>A)
c.3210+47T>A (n.3210+47T>A)
c.6150+47T>A (n.6150+47T>A)
c.1096+47T>A
c.1323+47T>A (n.1323+47T>A)
n.896+47T>A
c.6345+47T>A (n.6345+47T>A)
c.6336+47T>A (n.6336+47T>A)
c.6327+47T>A (n.6327+47T>A)
c.6213+47T>A (n.6213+47T>A)
c.4197+47T>A (n.4197+47T>A)
c.1887+47T>A (n.1887+47T>A)
n.6586+47T>A
 gnomAD v4
18g.23903172T>CCA8916338LAMA3c.1491+47T>C (n.1491+47T>C)
c.6318+47T>C (n.6318+47T>C)
c.3210+47T>C (n.3210+47T>C)
c.6150+47T>C (n.6150+47T>C)
c.1096+47T>C
c.1323+47T>C (n.1323+47T>C)
n.896+47T>C
c.6345+47T>C (n.6345+47T>C)
c.6336+47T>C (n.6336+47T>C)
c.6327+47T>C (n.6327+47T>C)
c.6213+47T>C (n.6213+47T>C)
c.4197+47T>C (n.4197+47T>C)
c.1887+47T>C (n.1887+47T>C)
n.6586+47T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23903172T=CA2290324052LAMA3c.1491+47T= (n.1491+47T=)
c.6318+47T= (n.6318+47T=)
c.3210+47T= (n.3210+47T=)
c.6150+47T= (n.6150+47T=)
c.1096+47T=
c.1323+47T= (n.1323+47T=)
n.896+47T=
c.6345+47T= (n.6345+47T=)
c.6336+47T= (n.6336+47T=)
c.6327+47T= (n.6327+47T=)
c.6213+47T= (n.6213+47T=)
c.4197+47T= (n.4197+47T=)
c.1887+47T= (n.1887+47T=)
n.6586+47T=
18g.23903173A=CA2290324053LAMA3c.1491+48A= (n.1491+48A=)
c.6318+48A= (n.6318+48A=)
c.3210+48A= (n.3210+48A=)
c.6150+48A= (n.6150+48A=)
c.1096+48A=
c.1323+48A= (n.1323+48A=)
n.896+48A=
c.6345+48A= (n.6345+48A=)
c.6336+48A= (n.6336+48A=)
c.6327+48A= (n.6327+48A=)
c.6213+48A= (n.6213+48A=)
c.4197+48A= (n.4197+48A=)
c.1887+48A= (n.1887+48A=)
n.6586+48A=
18g.23903173A>GCA988409522LAMA3c.1491+48A>G (n.1491+48A>G)
c.6318+48A>G (n.6318+48A>G)
c.3210+48A>G (n.3210+48A>G)
c.6150+48A>G (n.6150+48A>G)
c.1096+48A>G
c.1323+48A>G (n.1323+48A>G)
n.896+48A>G
c.6345+48A>G (n.6345+48A>G)
c.6336+48A>G (n.6336+48A>G)
c.6327+48A>G (n.6327+48A>G)
c.6213+48A>G (n.6213+48A>G)
c.4197+48A>G (n.4197+48A>G)
c.1887+48A>G (n.1887+48A>G)
n.6586+48A>G
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched