Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
1g.209626969G>ACA344590251LAMB3c.1495C>T (p.Gln499Ter)
c.1303C>T (p.Gln435Ter)
1g.209626969G>CCA344590252LAMB3c.1495C>G (p.Gln499Glu)
c.1303C>G (p.Gln435Glu)
1g.209626969G>TCA344590253LAMB3c.1495C>A (p.Gln499Lys)
c.1303C>A (p.Gln435Lys)
gnomAD v4
1g.209626970C>ACA423031392LAMB3c.1494G>T (p.Gly498=)
c.1302G>T (p.Gly434=)
1g.209626970C>GCA423031393LAMB3c.1494G>C (p.Gly498=)
c.1302G>C (p.Gly434=)
1g.209626970C>TCA423031394LAMB3c.1494G>A (p.Gly498=)
c.1302G>A (p.Gly434=)
1g.209626971C>ACA1375562LAMB3c.1493G>T (p.Gly498Val)
c.1301G>T (p.Gly434Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626971C=CA2484299712LAMB3c.1493G= (p.Gly498=)
c.1301G= (p.Gly434=)
1g.209626971C>GCA344590254LAMB3c.1493G>C (p.Gly498Ala)
c.1301G>C (p.Gly434Ala)
1g.209626971C>TCA1375563LAMB3c.1493G>A (p.Gly498Glu)
c.1301G>A (p.Gly434Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626972C>ACA344590255LAMB3c.1492G>T (p.Gly498Trp)
c.1300G>T (p.Gly434Trp)
1g.209626972C=CA2484299713LAMB3c.1492G= (p.Gly498=)
c.1300G= (p.Gly434=)
1g.209626972C>GCA344590257LAMB3c.1492G>C (p.Gly498Arg)
c.1300G>C (p.Gly434Arg)
1g.209626972C>TCA344590256LAMB3c.1492G>A (p.Gly498Arg)
c.1300G>A (p.Gly434Arg)
dbSNP gnomAD v2 gnomAD v4
1g.209626973delCA2650322193LAMB3c.1491del (p.Gln499SerfsTer11)
c.1299del (p.Gln435SerfsTer11)
gnomAD v4
1g.209626973T>ACA423031399LAMB3c.1491A>T (p.Thr497=)
c.1299A>T (p.Thr433=)
1g.209626973T>CCA423031397LAMB3c.1491A>G (p.Thr497=)
c.1299A>G (p.Thr433=)
dbSNP gnomAD v2 gnomAD v4
1g.209626973T>GCA423031398LAMB3c.1491A>C (p.Thr497=)
c.1299A>C (p.Thr433=)
1g.209626973T=CA2484299714LAMB3c.1491A= (p.Thr497=)
c.1299A= (p.Thr433=)
1g.209626974delCA2650322200LAMB3c.1490del (p.Thr497LysfsTer13)
c.1298del (p.Thr433LysfsTer13)
gnomAD v4
1g.209626974G>ACA344590258LAMB3c.1490C>T (p.Thr497Ile)
c.1298C>T (p.Thr433Ile)
1g.209626974G>CCA344590259LAMB3c.1490C>G (p.Thr497Arg)
c.1298C>G (p.Thr433Arg)
1g.209626974G>TCA344590260LAMB3c.1490C>A (p.Thr497Lys)
c.1298C>A (p.Thr433Lys)
1g.209626975T>ACA344590261LAMB3c.1489A>T (p.Thr497Ser)
c.1297A>T (p.Thr433Ser)
1g.209626975T>CCA344590262LAMB3c.1489A>G (p.Thr497Ala)
c.1297A>G (p.Thr433Ala)
1g.209626975T>GCA344590263LAMB3c.1489A>C (p.Thr497Pro)
c.1297A>C (p.Thr433Pro)
1g.209626976G>ACA423031401LAMB3c.1488C>T (p.Phe496=)
c.1296C>T (p.Phe432=)
dbSNP
1g.209626976G>CCA344590264LAMB3c.1488C>G (p.Phe496Leu)
c.1296C>G (p.Phe432Leu)
1g.209626976G=CA2484299715LAMB3c.1488C= (p.Phe496=)
c.1296C= (p.Phe432=)
1g.209626976G>TCA344590265LAMB3c.1488C>A (p.Phe496Leu)
c.1296C>A (p.Phe432Leu)
dbSNP gnomAD v4
1g.209626977A>CCA344590266LAMB3c.1487T>G (p.Phe496Cys)
c.1295T>G (p.Phe432Cys)
1g.209626977A>GCA344590267LAMB3c.1487T>C (p.Phe496Ser)
c.1295T>C (p.Phe432Ser)
1g.209626977A>TCA344590268LAMB3c.1487T>A (p.Phe496Tyr)
c.1295T>A (p.Phe432Tyr)
1g.209626978A>CCA344590270LAMB3c.1486T>G (p.Phe496Val)
c.1294T>G (p.Phe432Val)
1g.209626978A>GCA344590271LAMB3c.1486T>C (p.Phe496Leu)
c.1294T>C (p.Phe432Leu)
gnomAD v4
1g.209626978A>TCA344590269LAMB3c.1486T>A (p.Phe496Ile)
c.1294T>A (p.Phe432Ile)
1g.209626979C>ACA344590273LAMB3c.1486-1G>T (n.1486-1G>T)
c.1294-1G>T (n.1294-1G>T)
gnomAD v4
1g.209626979C=CA2484299716LAMB3c.1486-1G= (n.1486-1G=)
c.1294-1G= (n.1294-1G=)
1g.209626979C>GCA344590272LAMB3c.1486-1G>C (n.1486-1G>C)
c.1294-1G>C (n.1294-1G>C)
1g.209626979C>TCA344590274LAMB3c.1486-1G>A (n.1486-1G>A)
c.1294-1G>A (n.1294-1G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.209626980T>ACA344590275LAMB3c.1486-2A>T (n.1486-2A>T)
c.1294-2A>T (n.1294-2A>T)
1g.209626980T>CCA344590276LAMB3c.1486-2A>G (n.1486-2A>G)
c.1294-2A>G (n.1294-2A>G)
dbSNP gnomAD v2 gnomAD v4
1g.209626980T>GCA344590277LAMB3c.1486-2A>C (n.1486-2A>C)
c.1294-2A>C (n.1294-2A>C)
1g.209626980T=CA2484299717LAMB3c.1486-2A= (n.1486-2A=)
c.1294-2A= (n.1294-2A=)
1g.209626981G>TCA2650322210LAMB3c.1486-3C>A (n.1486-3C>A)
c.1294-3C>A (n.1294-3C>A)
gnomAD v4
1g.209626982C>ACA2580061997LAMB3c.1486-4G>T (n.1486-4G>T)
c.1294-4G>T (n.1294-4G>T)
ClinVar gnomAD v4
1g.209626982C=CA1149114323LAMB3c.1486-4G= (n.1486-4G=)
c.1294-4G= (n.1294-4G=)
1g.209626982C>TCA1375564LAMB3c.1486-4G>A (n.1486-4G>A)
c.1294-4G>A (n.1294-4G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626983G>ACA1375565LAMB3c.1486-5C>T (n.1486-5C>T)
c.1294-5C>T (n.1294-5C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626983G=CA1141315985LAMB3c.1486-5C= (n.1486-5C=)
c.1294-5C= (n.1294-5C=)
1g.209626983G>TCA730829769LAMB3c.1486-5C>A (n.1486-5C>A)
c.1294-5C>A (n.1294-5C>A)
dbSNP gnomAD v3 gnomAD v4
1g.209626984delCA2574000322LAMB3c.1486-6del (n.1486-6del)
c.1294-6del (n.1294-6del)
1g.209626984T>ACA2580061998LAMB3c.1486-6A>T (n.1486-6A>T)
c.1294-6A>T (n.1294-6A>T)
ClinVar
1g.209626984T>CCA2573131523LAMB3c.1486-6A>G (n.1486-6A>G)
c.1294-6A>G (n.1294-6A>G)
ClinVar dbSNP
1g.209626985G>ACA2499214424LAMB3c.1486-7C>T (n.1486-7C>T)
c.1294-7C>T (n.1294-7C>T)
ClinVar dbSNP gnomAD v4
1g.209626985G>TCA2650322230LAMB3c.1486-7C>A (n.1486-7C>A)
c.1294-7C>A (n.1294-7C>A)
gnomAD v4
1g.209626988dupCA2650322226LAMB3c.1486-7dup (n.1486-7dup)
c.1294-7dup (n.1294-7dup)
gnomAD v4
1g.209626988delCA2650322227LAMB3c.1486-7del (n.1486-7del)
c.1294-7del (n.1294-7del)
gnomAD v4
1g.209626986G>ACA2574000363LAMB3c.1486-8C>T (n.1486-8C>T)
c.1294-8C>T (n.1294-8C>T)
ClinVar dbSNP gnomAD v4
1g.209626986G>TCA2574000364LAMB3c.1486-8C>A (n.1486-8C>A)
c.1294-8C>A (n.1294-8C>A)
gnomAD v4
1g.209626987G>TCA2580061999LAMB3c.1486-9C>A (n.1486-9C>A)
c.1294-9C>A (n.1294-9C>A)
ClinVar gnomAD v4
1g.209626988G>ACA1011767578LAMB3c.1486-10C>T (n.1486-10C>T)
c.1294-10C>T (n.1294-10C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.209626988G=CA2484299718LAMB3c.1486-10C= (n.1486-10C=)
c.1294-10C= (n.1294-10C=)
1g.209626988G>TCA2650322234LAMB3c.1486-10C>A (n.1486-10C>A)
c.1294-10C>A (n.1294-10C>A)
gnomAD v4
1g.209626989A>GCA2650322236LAMB3c.1486-11T>C (n.1486-11T>C)
c.1294-11T>C (n.1294-11T>C)
gnomAD v4
1g.209626990G>ACA528652715LAMB3c.1486-12C>T (n.1486-12C>T)
c.1294-12C>T (n.1294-12C>T)
dbSNP gnomAD v2 gnomAD v4
1g.209626990G>CCA2739275557LAMB3c.1486-12C>G (n.1486-12C>G)
c.1294-12C>G (n.1294-12C>G)
ClinVar
1g.209626990G=CA2484299719LAMB3c.1486-12C= (n.1486-12C=)
c.1294-12C= (n.1294-12C=)
1g.209626990G>TCA2650322241LAMB3c.1486-12C>A (n.1486-12C>A)
c.1294-12C>A (n.1294-12C>A)
gnomAD v4
1g.209626991A=CA2484299720LAMB3c.1486-13T= (n.1486-13T=)
c.1294-13T= (n.1294-13T=)
1g.209626991A>GCA1375566LAMB3c.1486-13T>C (n.1486-13T>C)
c.1294-13T>C (n.1294-13T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626992G>CCA1375567LAMB3c.1486-14C>G (n.1486-14C>G)
c.1294-14C>G (n.1294-14C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209626992G=CA2484299721LAMB3c.1486-14C= (n.1486-14C=)
c.1294-14C= (n.1294-14C=)
1g.209626992G>TCA528652716LAMB3c.1486-14C>A (n.1486-14C>A)
c.1294-14C>A (n.1294-14C>A)
dbSNP gnomAD v2 gnomAD v4
1g.209626993C>ACA2650322247LAMB3c.1486-15G>T (n.1486-15G>T)
c.1294-15G>T (n.1294-15G>T)
gnomAD v4
1g.209626993C=CA2484299722LAMB3c.1486-15G= (n.1486-15G=)
c.1294-15G= (n.1294-15G=)
1g.209626993C>TCA528652717LAMB3c.1486-15G>A (n.1486-15G>A)
c.1294-15G>A (n.1294-15G>A)
dbSNP gnomAD v2 gnomAD v4
1g.209626994A>GCA2574000377LAMB3c.1486-16T>C (n.1486-16T>C)
c.1294-16T>C (n.1294-16T>C)
gnomAD v4
1g.209626995C=CA2484299723LAMB3c.1486-17G= (n.1486-17G=)
c.1294-17G= (n.1294-17G=)
1g.209626995C>GCA1011767579LAMB3c.1486-17G>C (n.1486-17G>C)
c.1294-17G>C (n.1294-17G>C)
dbSNP gnomAD v3 gnomAD v4
1g.209626995C>TCA2574000383LAMB3c.1486-17G>A (n.1486-17G>A)
c.1294-17G>A (n.1294-17G>A)
gnomAD v4
1g.209626996C>ACA2581696669LAMB3c.1486-18G>T (n.1486-18G>T)
c.1294-18G>T (n.1294-18G>T)
1g.209626996C=CA1139912093LAMB3c.1486-18G= (n.1486-18G=)
c.1294-18G= (n.1294-18G=)
1g.209626996C>GCA2484299724LAMB3c.1486-18G>C (n.1486-18G>C)
c.1294-18G>C (n.1294-18G>C)
dbSNP
1g.209626996C>TCA1375568LAMB3c.1486-18G>A (n.1486-18G>A)
c.1294-18G>A (n.1294-18G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626997G>ACA1375569LAMB3c.1486-19C>T (n.1486-19C>T)
c.1294-19C>T (n.1294-19C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209626997G=CA2484299725LAMB3c.1486-19C= (n.1486-19C=)
c.1294-19C= (n.1294-19C=)
1g.209626997G>TCA2650322254LAMB3c.1486-19C>A (n.1486-19C>A)
c.1294-19C>A (n.1294-19C>A)
gnomAD v4
1g.209626998T>CCA2650322256LAMB3c.1486-20A>G (n.1486-20A>G)
c.1294-20A>G (n.1294-20A>G)
gnomAD v4
1g.209626998T>GCA2697963171LAMB3c.1486-20A>C (n.1486-20A>C)
c.1294-20A>C (n.1294-20A>C)
dbSNP
1g.209626999C>ACA2650322257LAMB3c.1486-21G>T (n.1486-21G>T)
c.1294-21G>T (n.1294-21G>T)
gnomAD v4
1g.209627000A=CA2484299726LAMB3c.1486-22T= (n.1486-22T=)
c.1294-22T= (n.1294-22T=)
1g.209627000A>GCA2484299727LAMB3c.1486-22T>C (n.1486-22T>C)
c.1294-22T>C (n.1294-22T>C)
dbSNP gnomAD v4
1g.209627000A>TCA2484299728LAMB3c.1486-22T>A (n.1486-22T>A)
c.1294-22T>A (n.1294-22T>A)
dbSNP
1g.209627001G>TCA2650322261LAMB3c.1486-23C>A (n.1486-23C>A)
c.1294-23C>A (n.1294-23C>A)
gnomAD v4
1g.209627004_209627005insGAAACAAGAGTGCTAATTCCCAGAGTGGTGTGAAGATCAAATGAGTTAATGTGTGTGTGTGACTTTAAGTGGTGCCTGGCACATGGTAGGTGCTAAGTAAGCGTTTGCTTTCACTGCAGCTGTTACCATGGCTTTTATTCTGGCTGCGACTTCTGTTATTCTAAGTCATGTGGCA1011767584LAMB3c.1486-23_1486-22insATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTCCCAC (n.1486-23_1486-22insATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTCCCAC)
c.1294-23_1294-22insATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTCCCAC (n.1294-23_1294-22insATGACTTAGAATAACAGAAGTCGCAGCCAGAATAAAAGCCATGGTAACAGCTGCAGTGAAAGCAAACGCTTACTTAGCACCTACCATGTGCCAGGCACCACTTAAAGTCACACACACACATTAACTCATTTGATCTTCACACCACTCTGGGAATTAGCACTCTTGTTTCCCAC)
gnomAD v3 gnomAD v4
1g.209627002T>CCA730829837LAMB3c.1486-24A>G (n.1486-24A>G)
c.1294-24A>G (n.1294-24A>G)
dbSNP
1g.209627002T=CA2484299729LAMB3c.1486-24A= (n.1486-24A=)
c.1294-24A= (n.1294-24A=)
1g.209627003G>ACA1375570LAMB3c.1486-25C>T (n.1486-25C>T)
c.1294-25C>T (n.1294-25C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.209627003G=CA2484299730LAMB3c.1486-25C= (n.1486-25C=)
c.1294-25C= (n.1294-25C=)
1g.209627003G>TCA2650322264LAMB3c.1486-25C>A (n.1486-25C>A)
c.1294-25C>A (n.1294-25C>A)
gnomAD v4
1g.209627004G>ACA2650322266LAMB3c.1486-26C>T (n.1486-26C>T)
c.1294-26C>T (n.1294-26C>T)
gnomAD v4
1g.209627004G>TCA2650322267LAMB3c.1486-26C>A (n.1486-26C>A)
c.1294-26C>A (n.1294-26C>A)
gnomAD v4
1g.209627005A>TCA2650322268LAMB3c.1486-27T>A (n.1486-27T>A)
c.1294-27T>A (n.1294-27T>A)
gnomAD v4
1g.209627007C=CA1147841970LAMB3c.1486-29G= (n.1486-29G=)
c.1294-29G= (n.1294-29G=)
1g.209627007C>GCA2650322270LAMB3c.1486-29G>C (n.1486-29G>C)
c.1294-29G>C (n.1294-29G>C)
gnomAD v4
1g.209627007C>TCA1375571LAMB3c.1486-29G>A (n.1486-29G>A)
c.1294-29G>A (n.1294-29G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.209627008C>GCA2650322271LAMB3c.1486-30G>C (n.1486-30G>C)
c.1294-30G>C (n.1294-30G>C)
gnomAD v4
1g.209627009T>CCA1011767586LAMB3c.1486-31A>G (n.1486-31A>G)
c.1294-31A>G (n.1294-31A>G)
dbSNP gnomAD v3 gnomAD v4
1g.209627009T=CA2484299731LAMB3c.1486-31A= (n.1486-31A=)
c.1294-31A= (n.1294-31A=)
1g.209627010G>TCA2650322272LAMB3c.1486-32C>A (n.1486-32C>A)
c.1294-32C>A (n.1294-32C>A)
gnomAD v4

Number of alleles fetched