Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23864785G>ACA402071458LAMA3c.4585G>A (p.Val1529Ile)
c.1477G>A (p.Val493Ile)
c.4612G>A (p.Val1538Ile)
c.4603G>A (p.Val1535Ile)
c.4594G>A (p.Val1532Ile)
c.4480G>A (p.Val1494Ile)
c.2464G>A (p.Val822Ile)
c.154G>A (p.Val52Ile)
n.4853G>A
 gnomAD v4
18g.23864785G>CCA402071460LAMA3c.4585G>C (p.Val1529Leu)
c.1477G>C (p.Val493Leu)
c.4612G>C (p.Val1538Leu)
c.4603G>C (p.Val1535Leu)
c.4594G>C (p.Val1532Leu)
c.4480G>C (p.Val1494Leu)
c.2464G>C (p.Val822Leu)
c.154G>C (p.Val52Leu)
n.4853G>C
18g.23864785G>TCA402071461LAMA3c.4585G>T (p.Val1529Phe)
c.1477G>T (p.Val493Phe)
c.4612G>T (p.Val1538Phe)
c.4603G>T (p.Val1535Phe)
c.4594G>T (p.Val1532Phe)
c.4480G>T (p.Val1494Phe)
c.2464G>T (p.Val822Phe)
c.154G>T (p.Val52Phe)
n.4853G>T
18g.23864786T>ACA402071464LAMA3c.4586T>A (p.Val1529Asp)
c.1478T>A (p.Val493Asp)
c.4613T>A (p.Val1538Asp)
c.4604T>A (p.Val1535Asp)
c.4595T>A (p.Val1532Asp)
c.4481T>A (p.Val1494Asp)
c.2465T>A (p.Val822Asp)
c.155T>A (p.Val52Asp)
n.4854T>A
18g.23864786T>CCA402071466LAMA3c.4586T>C (p.Val1529Ala)
c.1478T>C (p.Val493Ala)
c.4613T>C (p.Val1538Ala)
c.4604T>C (p.Val1535Ala)
c.4595T>C (p.Val1532Ala)
c.4481T>C (p.Val1494Ala)
c.2465T>C (p.Val822Ala)
c.155T>C (p.Val52Ala)
n.4854T>C
18g.23864786T>GCA402071467LAMA3c.4586T>G (p.Val1529Gly)
c.1478T>G (p.Val493Gly)
c.4613T>G (p.Val1538Gly)
c.4604T>G (p.Val1535Gly)
c.4595T>G (p.Val1532Gly)
c.4481T>G (p.Val1494Gly)
c.2465T>G (p.Val822Gly)
c.155T>G (p.Val52Gly)
n.4854T>G
18g.23864787T>ACA503336532LAMA3c.4587T>A (p.Val1529=)
c.1479T>A (p.Val493=)
c.4614T>A (p.Val1538=)
c.4605T>A (p.Val1535=)
c.4596T>A (p.Val1532=)
c.4482T>A (p.Val1494=)
c.2466T>A (p.Val822=)
c.156T>A (p.Val52=)
n.4855T>A
18g.23864787T>CCA503336533LAMA3c.4587T>C (p.Val1529=)
c.1479T>C (p.Val493=)
c.4614T>C (p.Val1538=)
c.4605T>C (p.Val1535=)
c.4596T>C (p.Val1532=)
c.4482T>C (p.Val1494=)
c.2466T>C (p.Val822=)
c.156T>C (p.Val52=)
n.4855T>C
18g.23864787T>GCA503336534LAMA3c.4587T>G (p.Val1529=)
c.1479T>G (p.Val493=)
c.4614T>G (p.Val1538=)
c.4605T>G (p.Val1535=)
c.4596T>G (p.Val1532=)
c.4482T>G (p.Val1494=)
c.2466T>G (p.Val822=)
c.156T>G (p.Val52=)
n.4855T>G
 dbSNP gnomAD v3 gnomAD v4
18g.23864787T=CA2290307517LAMA3c.4587T= (p.Val1529=)
c.1479T= (p.Val493=)
c.4614T= (p.Val1538=)
c.4605T= (p.Val1535=)
c.4596T= (p.Val1532=)
c.4482T= (p.Val1494=)
c.2466T= (p.Val822=)
c.156T= (p.Val52=)
n.4855T=
18g.23864788T>ACA402071472LAMA3c.4588T>A (p.Ser1530Thr)
c.1480T>A (p.Ser494Thr)
c.4615T>A (p.Ser1539Thr)
c.4606T>A (p.Ser1536Thr)
c.4597T>A (p.Ser1533Thr)
c.4483T>A (p.Ser1495Thr)
c.2467T>A (p.Ser823Thr)
c.157T>A (p.Ser53Thr)
n.4856T>A
18g.23864788T>CCA402071470LAMA3c.4588T>C (p.Ser1530Pro)
c.1480T>C (p.Ser494Pro)
c.4615T>C (p.Ser1539Pro)
c.4606T>C (p.Ser1536Pro)
c.4597T>C (p.Ser1533Pro)
c.4483T>C (p.Ser1495Pro)
c.2467T>C (p.Ser823Pro)
c.157T>C (p.Ser53Pro)
n.4856T>C
18g.23864788T>GCA402071468LAMA3c.4588T>G (p.Ser1530Ala)
c.1480T>G (p.Ser494Ala)
c.4615T>G (p.Ser1539Ala)
c.4606T>G (p.Ser1536Ala)
c.4597T>G (p.Ser1533Ala)
c.4483T>G (p.Ser1495Ala)
c.2467T>G (p.Ser823Ala)
c.157T>G (p.Ser53Ala)
n.4856T>G
18g.23864789C>ACA402071474LAMA3c.4589C>A (p.Ser1530Tyr)
c.1481C>A (p.Ser494Tyr)
c.4616C>A (p.Ser1539Tyr)
c.4607C>A (p.Ser1536Tyr)
c.4598C>A (p.Ser1533Tyr)
c.4484C>A (p.Ser1495Tyr)
c.2468C>A (p.Ser823Tyr)
c.158C>A (p.Ser53Tyr)
n.4857C>A
18g.23864789C=CA2290307519LAMA3c.4589C= (p.Ser1530=)
c.1481C= (p.Ser494=)
c.4616C= (p.Ser1539=)
c.4607C= (p.Ser1536=)
c.4598C= (p.Ser1533=)
c.4484C= (p.Ser1495=)
c.2468C= (p.Ser823=)
c.158C= (p.Ser53=)
n.4857C=
18g.23864789C>GCA402071476LAMA3c.4589C>G (p.Ser1530Cys)
c.1481C>G (p.Ser494Cys)
c.4616C>G (p.Ser1539Cys)
c.4607C>G (p.Ser1536Cys)
c.4598C>G (p.Ser1533Cys)
c.4484C>G (p.Ser1495Cys)
c.2468C>G (p.Ser823Cys)
c.158C>G (p.Ser53Cys)
n.4857C>G
18g.23864789C>TCA402071478LAMA3c.4589C>T (p.Ser1530Phe)
c.1481C>T (p.Ser494Phe)
c.4616C>T (p.Ser1539Phe)
c.4607C>T (p.Ser1536Phe)
c.4598C>T (p.Ser1533Phe)
c.4484C>T (p.Ser1495Phe)
c.2468C>T (p.Ser823Phe)
c.158C>T (p.Ser53Phe)
n.4857C>T
 dbSNP gnomAD v3 gnomAD v4
18g.23864789_23864790delinsCTCA2290307518LAMA3c.4589_4590delinsCT (p.Ser1530=)
c.1481_1482delinsCT (p.Ser494=)
c.4616_4617delinsCT (p.Ser1539=)
c.4607_4608delinsCT (p.Ser1536=)
c.4598_4599delinsCT (p.Ser1533=)
c.4484_4485delinsCT (p.Ser1495=)
c.2468_2469delinsCT (p.Ser823=)
c.158_159delinsCT (p.Ser53=)
n.4857_4858delinsCT
18g.23864790T>ACA503336539LAMA3c.4590T>A (p.Ser1530=)
c.1482T>A (p.Ser494=)
c.4617T>A (p.Ser1539=)
c.4608T>A (p.Ser1536=)
c.4599T>A (p.Ser1533=)
c.4485T>A (p.Ser1495=)
c.2469T>A (p.Ser823=)
c.159T>A (p.Ser53=)
n.4858T>A
 dbSNP
18g.23864790T>CCA503336540LAMA3c.4590T>C (p.Ser1530=)
c.1482T>C (p.Ser494=)
c.4617T>C (p.Ser1539=)
c.4608T>C (p.Ser1536=)
c.4599T>C (p.Ser1533=)
c.4485T>C (p.Ser1495=)
c.2469T>C (p.Ser823=)
c.159T>C (p.Ser53=)
n.4858T>C
18g.23864790T>GCA503336541LAMA3c.4590T>G (p.Ser1530=)
c.1482T>G (p.Ser494=)
c.4617T>G (p.Ser1539=)
c.4608T>G (p.Ser1536=)
c.4599T>G (p.Ser1533=)
c.4485T>G (p.Ser1495=)
c.2469T>G (p.Ser823=)
c.159T>G (p.Ser53=)
n.4858T>G
18g.23864791delCA628678317LAMA3c.4591del (p.Ser1531HisfsTer?)
c.1483del (p.Ser495HisfsTer?)
c.4618del (p.Ser1540HisfsTer?)
c.4609del (p.Ser1537HisfsTer?)
c.4600del (p.Ser1534HisfsTer?)
c.4486del (p.Ser1496HisfsTer?)
c.2470del (p.Ser824HisfsTer?)
c.160del (p.Ser54HisfsTer?)
n.4859del
 dbSNP gnomAD v2 gnomAD v4
18g.23864791T>ACA402071480LAMA3c.4591T>A (p.Ser1531Thr)
c.1483T>A (p.Ser495Thr)
c.4618T>A (p.Ser1540Thr)
c.4609T>A (p.Ser1537Thr)
c.4600T>A (p.Ser1534Thr)
c.4486T>A (p.Ser1496Thr)
c.2470T>A (p.Ser824Thr)
c.160T>A (p.Ser54Thr)
n.4859T>A
18g.23864791T>CCA402071482LAMA3c.4591T>C (p.Ser1531Pro)
c.1483T>C (p.Ser495Pro)
c.4618T>C (p.Ser1540Pro)
c.4609T>C (p.Ser1537Pro)
c.4600T>C (p.Ser1534Pro)
c.4486T>C (p.Ser1496Pro)
c.2470T>C (p.Ser824Pro)
c.160T>C (p.Ser54Pro)
n.4859T>C
18g.23864791T>GCA402071484LAMA3c.4591T>G (p.Ser1531Ala)
c.1483T>G (p.Ser495Ala)
c.4618T>G (p.Ser1540Ala)
c.4609T>G (p.Ser1537Ala)
c.4600T>G (p.Ser1534Ala)
c.4486T>G (p.Ser1496Ala)
c.2470T>G (p.Ser824Ala)
c.160T>G (p.Ser54Ala)
n.4859T>G
18g.23864792C>ACA402071485LAMA3c.4592C>A (p.Ser1531Ter)
c.1484C>A (p.Ser495Ter)
c.4619C>A (p.Ser1540Ter)
c.4610C>A (p.Ser1537Ter)
c.4601C>A (p.Ser1534Ter)
c.4487C>A (p.Ser1496Ter)
c.2471C>A (p.Ser824Ter)
c.161C>A (p.Ser54Ter)
n.4860C>A
18g.23864792C>GCA402071486LAMA3c.4592C>G (p.Ser1531Ter)
c.1484C>G (p.Ser495Ter)
c.4619C>G (p.Ser1540Ter)
c.4610C>G (p.Ser1537Ter)
c.4601C>G (p.Ser1534Ter)
c.4487C>G (p.Ser1496Ter)
c.2471C>G (p.Ser824Ter)
c.161C>G (p.Ser54Ter)
n.4860C>G
18g.23864792C>TCA402071488LAMA3c.4592C>T (p.Ser1531Leu)
c.1484C>T (p.Ser495Leu)
c.4619C>T (p.Ser1540Leu)
c.4610C>T (p.Ser1537Leu)
c.4601C>T (p.Ser1534Leu)
c.4487C>T (p.Ser1496Leu)
c.2471C>T (p.Ser824Leu)
c.161C>T (p.Ser54Leu)
n.4860C>T
18g.23864793A>CCA503336545LAMA3c.4593A>C (p.Ser1531=)
c.1485A>C (p.Ser495=)
c.4620A>C (p.Ser1540=)
c.4611A>C (p.Ser1537=)
c.4602A>C (p.Ser1534=)
c.4488A>C (p.Ser1496=)
c.2472A>C (p.Ser824=)
c.162A>C (p.Ser54=)
n.4861A>C
18g.23864793A>GCA503336547LAMA3c.4593A>G (p.Ser1531=)
c.1485A>G (p.Ser495=)
c.4620A>G (p.Ser1540=)
c.4611A>G (p.Ser1537=)
c.4602A>G (p.Ser1534=)
c.4488A>G (p.Ser1496=)
c.2472A>G (p.Ser824=)
c.162A>G (p.Ser54=)
n.4861A>G
18g.23864793A>TCA503336549LAMA3c.4593A>T (p.Ser1531=)
c.1485A>T (p.Ser495=)
c.4620A>T (p.Ser1540=)
c.4611A>T (p.Ser1537=)
c.4602A>T (p.Ser1534=)
c.4488A>T (p.Ser1496=)
c.2472A>T (p.Ser824=)
c.162A>T (p.Ser54=)
n.4861A>T
18g.23864794T>ACA402071490LAMA3c.4594T>A (p.Tyr1532Asn)
c.1486T>A (p.Tyr496Asn)
c.4621T>A (p.Tyr1541Asn)
c.4612T>A (p.Tyr1538Asn)
c.4603T>A (p.Tyr1535Asn)
c.4489T>A (p.Tyr1497Asn)
c.2473T>A (p.Tyr825Asn)
c.163T>A (p.Tyr55Asn)
n.4862T>A
18g.23864794T>CCA402071492LAMA3c.4594T>C (p.Tyr1532His)
c.1486T>C (p.Tyr496His)
c.4621T>C (p.Tyr1541His)
c.4612T>C (p.Tyr1538His)
c.4603T>C (p.Tyr1535His)
c.4489T>C (p.Tyr1497His)
c.2473T>C (p.Tyr825His)
c.163T>C (p.Tyr55His)
n.4862T>C
18g.23864794T>GCA402071493LAMA3c.4594T>G (p.Tyr1532Asp)
c.1486T>G (p.Tyr496Asp)
c.4621T>G (p.Tyr1541Asp)
c.4612T>G (p.Tyr1538Asp)
c.4603T>G (p.Tyr1535Asp)
c.4489T>G (p.Tyr1497Asp)
c.2473T>G (p.Tyr825Asp)
c.163T>G (p.Tyr55Asp)
n.4862T>G
18g.23864795A>CCA402071499LAMA3c.4595A>C (p.Tyr1532Ser)
c.1487A>C (p.Tyr496Ser)
c.4622A>C (p.Tyr1541Ser)
c.4613A>C (p.Tyr1538Ser)
c.4604A>C (p.Tyr1535Ser)
c.4490A>C (p.Tyr1497Ser)
c.2474A>C (p.Tyr825Ser)
c.164A>C (p.Tyr55Ser)
n.4863A>C
18g.23864795A>GCA402071497LAMA3c.4595A>G (p.Tyr1532Cys)
c.1487A>G (p.Tyr496Cys)
c.4622A>G (p.Tyr1541Cys)
c.4613A>G (p.Tyr1538Cys)
c.4604A>G (p.Tyr1535Cys)
c.4490A>G (p.Tyr1497Cys)
c.2474A>G (p.Tyr825Cys)
c.164A>G (p.Tyr55Cys)
n.4863A>G
18g.23864795A>TCA402071496LAMA3c.4595A>T (p.Tyr1532Phe)
c.1487A>T (p.Tyr496Phe)
c.4622A>T (p.Tyr1541Phe)
c.4613A>T (p.Tyr1538Phe)
c.4604A>T (p.Tyr1535Phe)
c.4490A>T (p.Tyr1497Phe)
c.2474A>T (p.Tyr825Phe)
c.164A>T (p.Tyr55Phe)
n.4863A>T
18g.23864796T>ACA402071501LAMA3c.4596T>A (p.Tyr1532Ter)
c.1488T>A (p.Tyr496Ter)
c.4623T>A (p.Tyr1541Ter)
c.4614T>A (p.Tyr1538Ter)
c.4605T>A (p.Tyr1535Ter)
c.4491T>A (p.Tyr1497Ter)
c.2475T>A (p.Tyr825Ter)
c.165T>A (p.Tyr55Ter)
n.4864T>A
18g.23864796T>CCA503336550LAMA3c.4596T>C (p.Tyr1532=)
c.1488T>C (p.Tyr496=)
c.4623T>C (p.Tyr1541=)
c.4614T>C (p.Tyr1538=)
c.4605T>C (p.Tyr1535=)
c.4491T>C (p.Tyr1497=)
c.2475T>C (p.Tyr825=)
c.165T>C (p.Tyr55=)
n.4864T>C
18g.23864796T>GCA402071502LAMA3c.4596T>G (p.Tyr1532Ter)
c.1488T>G (p.Tyr496Ter)
c.4623T>G (p.Tyr1541Ter)
c.4614T>G (p.Tyr1538Ter)
c.4605T>G (p.Tyr1535Ter)
c.4491T>G (p.Tyr1497Ter)
c.2475T>G (p.Tyr825Ter)
c.165T>G (p.Tyr55Ter)
n.4864T>G
18g.23864797G>ACA402071503LAMA3c.4597G>A (p.Gly1533Ser)
c.1489G>A (p.Gly497Ser)
c.4624G>A (p.Gly1542Ser)
c.4615G>A (p.Gly1539Ser)
c.4606G>A (p.Gly1536Ser)
c.4492G>A (p.Gly1498Ser)
c.2476G>A (p.Gly826Ser)
c.166G>A (p.Gly56Ser)
n.4865G>A
18g.23864797G>CCA402071506LAMA3c.4597G>C (p.Gly1533Arg)
c.1489G>C (p.Gly497Arg)
c.4624G>C (p.Gly1542Arg)
c.4615G>C (p.Gly1539Arg)
c.4606G>C (p.Gly1536Arg)
c.4492G>C (p.Gly1498Arg)
c.2476G>C (p.Gly826Arg)
c.166G>C (p.Gly56Arg)
n.4865G>C
18g.23864797G>TCA402071508LAMA3c.4597G>T (p.Gly1533Cys)
c.1489G>T (p.Gly497Cys)
c.4624G>T (p.Gly1542Cys)
c.4615G>T (p.Gly1539Cys)
c.4606G>T (p.Gly1536Cys)
c.4492G>T (p.Gly1498Cys)
c.2476G>T (p.Gly826Cys)
c.166G>T (p.Gly56Cys)
n.4865G>T
18g.23864798delCA2641292032LAMA3c.4598del (p.Gly1533ValfsTer?)
c.1490del (p.Gly497ValfsTer?)
c.4625del (p.Gly1542ValfsTer?)
c.4616del (p.Gly1539ValfsTer?)
c.4607del (p.Gly1536ValfsTer?)
c.4493del (p.Gly1498ValfsTer?)
c.2477del (p.Gly826ValfsTer?)
c.167del (p.Gly56ValfsTer?)
n.4866del
 gnomAD v4
18g.23864798G>ACA8915666LAMA3c.4598G>A (p.Gly1533Asp)
c.1490G>A (p.Gly497Asp)
c.4625G>A (p.Gly1542Asp)
c.4616G>A (p.Gly1539Asp)
c.4607G>A (p.Gly1536Asp)
c.4493G>A (p.Gly1498Asp)
c.2477G>A (p.Gly826Asp)
c.167G>A (p.Gly56Asp)
n.4866G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23864798G>CCA402071511LAMA3c.4598G>C (p.Gly1533Ala)
c.1490G>C (p.Gly497Ala)
c.4625G>C (p.Gly1542Ala)
c.4616G>C (p.Gly1539Ala)
c.4607G>C (p.Gly1536Ala)
c.4493G>C (p.Gly1498Ala)
c.2477G>C (p.Gly826Ala)
c.167G>C (p.Gly56Ala)
n.4866G>C
18g.23864798G=CA2290307520LAMA3c.4598G= (p.Gly1533=)
c.1490G= (p.Gly497=)
c.4625G= (p.Gly1542=)
c.4616G= (p.Gly1539=)
c.4607G= (p.Gly1536=)
c.4493G= (p.Gly1498=)
c.2477G= (p.Gly826=)
c.167G= (p.Gly56=)
n.4866G=
18g.23864798G>TCA402071509LAMA3c.4598G>T (p.Gly1533Val)
c.1490G>T (p.Gly497Val)
c.4625G>T (p.Gly1542Val)
c.4616G>T (p.Gly1539Val)
c.4607G>T (p.Gly1536Val)
c.4493G>T (p.Gly1498Val)
c.2477G>T (p.Gly826Val)
c.167G>T (p.Gly56Val)
n.4866G>T
18g.23864799T>ACA503336552LAMA3c.4599T>A (p.Gly1533=)
c.1491T>A (p.Gly497=)
c.4626T>A (p.Gly1542=)
c.4617T>A (p.Gly1539=)
c.4608T>A (p.Gly1536=)
c.4494T>A (p.Gly1498=)
c.2478T>A (p.Gly826=)
c.168T>A (p.Gly56=)
n.4867T>A
18g.23864799T>CCA503336553LAMA3c.4599T>C (p.Gly1533=)
c.1491T>C (p.Gly497=)
c.4626T>C (p.Gly1542=)
c.4617T>C (p.Gly1539=)
c.4608T>C (p.Gly1536=)
c.4494T>C (p.Gly1498=)
c.2478T>C (p.Gly826=)
c.168T>C (p.Gly56=)
n.4867T>C
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched