Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23876394C>ACA402045069LAMA3c.272C>A (p.Ser91Ter)
c.5099C>A (p.Ser1700Ter)
c.5126C>A (p.Ser1709Ter)
c.5117C>A (p.Ser1706Ter)
c.5108C>A (p.Ser1703Ter)
c.4994C>A (p.Ser1665Ter)
c.2978C>A (p.Ser993Ter)
c.668C>A (p.Ser223Ter)
n.5367C>A
n.5099C>A (p.Ser1700Ter)
n.272C>A (p.Ser91Ter)
18g.23876394C>GCA8915884LAMA3c.272C>G (p.Ser91Ter)
c.5099C>G (p.Ser1700Ter)
c.5126C>G (p.Ser1709Ter)
c.5117C>G (p.Ser1706Ter)
c.5108C>G (p.Ser1703Ter)
c.4994C>G (p.Ser1665Ter)
c.2978C>G (p.Ser993Ter)
c.668C>G (p.Ser223Ter)
n.5367C>G
n.5099C>G (p.Ser1700Ter)
n.272C>G (p.Ser91Ter)
ClinVar dbSNP ExAC gnomAD
18g.23876394C>TCA402045068LAMA3c.272C>T (p.Ser91Leu)
c.5099C>T (p.Ser1700Leu)
c.5126C>T (p.Ser1709Leu)
c.5117C>T (p.Ser1706Leu)
c.5108C>T (p.Ser1703Leu)
c.4994C>T (p.Ser1665Leu)
c.2978C>T (p.Ser993Leu)
c.668C>T (p.Ser223Leu)
n.5367C>T
n.5099C>T (p.Ser1700Leu)
n.272C>T (p.Ser91Leu)
18g.23876395A>CCA503327943LAMA3c.273A>C (p.Ser91=)
c.5100A>C (p.Ser1700=)
c.5127A>C (p.Ser1709=)
c.5118A>C (p.Ser1706=)
c.5109A>C (p.Ser1703=)
c.4995A>C (p.Ser1665=)
c.2979A>C (p.Ser993=)
c.669A>C (p.Ser223=)
n.5368A>C
n.5100A>C (p.Ser1700=)
n.273A>C (p.Ser91=)
18g.23876395A>GCA503327944LAMA3c.273A>G (p.Ser91=)
c.5100A>G (p.Ser1700=)
c.5127A>G (p.Ser1709=)
c.5118A>G (p.Ser1706=)
c.5109A>G (p.Ser1703=)
c.4995A>G (p.Ser1665=)
c.2979A>G (p.Ser993=)
c.669A>G (p.Ser223=)
n.5368A>G
n.5100A>G (p.Ser1700=)
n.273A>G (p.Ser91=)
18g.23876395A>TCA503327945LAMA3c.273A>T (p.Ser91=)
c.5100A>T (p.Ser1700=)
c.5127A>T (p.Ser1709=)
c.5118A>T (p.Ser1706=)
c.5109A>T (p.Ser1703=)
c.4995A>T (p.Ser1665=)
c.2979A>T (p.Ser993=)
c.669A>T (p.Ser223=)
n.5368A>T
n.5100A>T (p.Ser1700=)
n.273A>T (p.Ser91=)
18g.23876396G>ACA402045071LAMA3c.274G>A (p.Gly92Ser)
c.5101G>A (p.Gly1701Ser)
c.5128G>A (p.Gly1710Ser)
c.5119G>A (p.Gly1707Ser)
c.5110G>A (p.Gly1704Ser)
c.4996G>A (p.Gly1666Ser)
c.2980G>A (p.Gly994Ser)
c.670G>A (p.Gly224Ser)
n.5369G>A
n.5101G>A (p.Gly1701Ser)
n.274G>A (p.Gly92Ser)
18g.23876396G>CCA402045070LAMA3c.274G>C (p.Gly92Arg)
c.5101G>C (p.Gly1701Arg)
c.5128G>C (p.Gly1710Arg)
c.5119G>C (p.Gly1707Arg)
c.5110G>C (p.Gly1704Arg)
c.4996G>C (p.Gly1666Arg)
c.2980G>C (p.Gly994Arg)
c.670G>C (p.Gly224Arg)
n.5369G>C
n.5101G>C (p.Gly1701Arg)
n.274G>C (p.Gly92Arg)
18g.23876396G>TCA402045072LAMA3c.274G>T (p.Gly92Cys)
c.5101G>T (p.Gly1701Cys)
c.5128G>T (p.Gly1710Cys)
c.5119G>T (p.Gly1707Cys)
c.5110G>T (p.Gly1704Cys)
c.4996G>T (p.Gly1666Cys)
c.2980G>T (p.Gly994Cys)
c.670G>T (p.Gly224Cys)
n.5369G>T
n.5101G>T (p.Gly1701Cys)
n.274G>T (p.Gly92Cys)
18g.23876397G>ACA402045073LAMA3c.275G>A (p.Gly92Asp)
c.5102G>A (p.Gly1701Asp)
c.5129G>A (p.Gly1710Asp)
c.5120G>A (p.Gly1707Asp)
c.5111G>A (p.Gly1704Asp)
c.4997G>A (p.Gly1666Asp)
c.2981G>A (p.Gly994Asp)
c.671G>A (p.Gly224Asp)
n.5370G>A
n.5102G>A (p.Gly1701Asp)
n.275G>A (p.Gly92Asp)
18g.23876397G>CCA402045074LAMA3c.275G>C (p.Gly92Ala)
c.5102G>C (p.Gly1701Ala)
c.5129G>C (p.Gly1710Ala)
c.5120G>C (p.Gly1707Ala)
c.5111G>C (p.Gly1704Ala)
c.4997G>C (p.Gly1666Ala)
c.2981G>C (p.Gly994Ala)
c.671G>C (p.Gly224Ala)
n.5370G>C
n.5102G>C (p.Gly1701Ala)
n.275G>C (p.Gly92Ala)
18g.23876397G>TCA402045075LAMA3c.275G>T (p.Gly92Val)
c.5102G>T (p.Gly1701Val)
c.5129G>T (p.Gly1710Val)
c.5120G>T (p.Gly1707Val)
c.5111G>T (p.Gly1704Val)
c.4997G>T (p.Gly1666Val)
c.2981G>T (p.Gly994Val)
c.671G>T (p.Gly224Val)
n.5370G>T
n.5102G>T (p.Gly1701Val)
n.275G>T (p.Gly92Val)
18g.23876398C>ACA503327951LAMA3c.276C>A (p.Gly92=)
c.5103C>A (p.Gly1701=)
c.5130C>A (p.Gly1710=)
c.5121C>A (p.Gly1707=)
c.5112C>A (p.Gly1704=)
c.4998C>A (p.Gly1666=)
c.2982C>A (p.Gly994=)
c.672C>A (p.Gly224=)
n.5371C>A
n.5103C>A (p.Gly1701=)
n.276C>A (p.Gly92=)
18g.23876398C>GCA503327950LAMA3c.276C>G (p.Gly92=)
c.5103C>G (p.Gly1701=)
c.5130C>G (p.Gly1710=)
c.5121C>G (p.Gly1707=)
c.5112C>G (p.Gly1704=)
c.4998C>G (p.Gly1666=)
c.2982C>G (p.Gly994=)
c.672C>G (p.Gly224=)
n.5371C>G
n.5103C>G (p.Gly1701=)
n.276C>G (p.Gly92=)
18g.23876398C>TCA503327949LAMA3c.276C>T (p.Gly92=)
c.5103C>T (p.Gly1701=)
c.5130C>T (p.Gly1710=)
c.5121C>T (p.Gly1707=)
c.5112C>T (p.Gly1704=)
c.4998C>T (p.Gly1666=)
c.2982C>T (p.Gly994=)
c.672C>T (p.Gly224=)
n.5371C>T
n.5103C>T (p.Gly1701=)
n.276C>T (p.Gly92=)
18g.23876399A>CCA402045076LAMA3c.277A>C (p.Ile93Leu)
c.5104A>C (p.Ile1702Leu)
c.5131A>C (p.Ile1711Leu)
c.5122A>C (p.Ile1708Leu)
c.5113A>C (p.Ile1705Leu)
c.4999A>C (p.Ile1667Leu)
c.2983A>C (p.Ile995Leu)
c.673A>C (p.Ile225Leu)
n.5372A>C
n.5104A>C (p.Ile1702Leu)
n.277A>C (p.Ile93Leu)
18g.23876399A>GCA402045077LAMA3c.277A>G (p.Ile93Val)
c.5104A>G (p.Ile1702Val)
c.5131A>G (p.Ile1711Val)
c.5122A>G (p.Ile1708Val)
c.5113A>G (p.Ile1705Val)
c.4999A>G (p.Ile1667Val)
c.2983A>G (p.Ile995Val)
c.673A>G (p.Ile225Val)
n.5372A>G
n.5104A>G (p.Ile1702Val)
n.277A>G (p.Ile93Val)
18g.23876399A>TCA402045078LAMA3c.277A>T (p.Ile93Leu)
c.5104A>T (p.Ile1702Leu)
c.5131A>T (p.Ile1711Leu)
c.5122A>T (p.Ile1708Leu)
c.5113A>T (p.Ile1705Leu)
c.4999A>T (p.Ile1667Leu)
c.2983A>T (p.Ile995Leu)
c.673A>T (p.Ile225Leu)
n.5372A>T
n.5104A>T (p.Ile1702Leu)
n.277A>T (p.Ile93Leu)
18g.23876400T>ACA402045079LAMA3c.278T>A (p.Ile93Lys)
c.5105T>A (p.Ile1702Lys)
c.5132T>A (p.Ile1711Lys)
c.5123T>A (p.Ile1708Lys)
c.5114T>A (p.Ile1705Lys)
c.5000T>A (p.Ile1667Lys)
c.2984T>A (p.Ile995Lys)
c.674T>A (p.Ile225Lys)
n.5373T>A
n.5105T>A (p.Ile1702Lys)
n.278T>A (p.Ile93Lys)
18g.23876400T>CCA402045080LAMA3c.278T>C (p.Ile93Thr)
c.5105T>C (p.Ile1702Thr)
c.5132T>C (p.Ile1711Thr)
c.5123T>C (p.Ile1708Thr)
c.5114T>C (p.Ile1705Thr)
c.5000T>C (p.Ile1667Thr)
c.2984T>C (p.Ile995Thr)
c.674T>C (p.Ile225Thr)
n.5373T>C
n.5105T>C (p.Ile1702Thr)
n.278T>C (p.Ile93Thr)
COSMIC COSMIC
18g.23876400T>GCA402045081LAMA3c.278T>G (p.Ile93Arg)
c.5105T>G (p.Ile1702Arg)
c.5132T>G (p.Ile1711Arg)
c.5123T>G (p.Ile1708Arg)
c.5114T>G (p.Ile1705Arg)
c.5000T>G (p.Ile1667Arg)
c.2984T>G (p.Ile995Arg)
c.674T>G (p.Ile225Arg)
n.5373T>G
n.5105T>G (p.Ile1702Arg)
n.278T>G (p.Ile93Arg)
18g.23876401A>CCA503327954LAMA3c.279A>C (p.Ile93=)
c.5106A>C (p.Ile1702=)
c.5133A>C (p.Ile1711=)
c.5124A>C (p.Ile1708=)
c.5115A>C (p.Ile1705=)
c.5001A>C (p.Ile1667=)
c.2985A>C (p.Ile995=)
c.675A>C (p.Ile225=)
n.5374A>C
n.5106A>C (p.Ile1702=)
n.279A>C (p.Ile93=)
18g.23876401A>GCA402045082LAMA3c.279A>G (p.Ile93Met)
c.5106A>G (p.Ile1702Met)
c.5133A>G (p.Ile1711Met)
c.5124A>G (p.Ile1708Met)
c.5115A>G (p.Ile1705Met)
c.5001A>G (p.Ile1667Met)
c.2985A>G (p.Ile995Met)
c.675A>G (p.Ile225Met)
n.5374A>G
n.5106A>G (p.Ile1702Met)
n.279A>G (p.Ile93Met)
18g.23876401A>TCA503327957LAMA3c.279A>T (p.Ile93=)
c.5106A>T (p.Ile1702=)
c.5133A>T (p.Ile1711=)
c.5124A>T (p.Ile1708=)
c.5115A>T (p.Ile1705=)
c.5001A>T (p.Ile1667=)
c.2985A>T (p.Ile995=)
c.675A>T (p.Ile225=)
n.5374A>T
n.5106A>T (p.Ile1702=)
n.279A>T (p.Ile93=)
18g.23876402T>ACA402045083LAMA3c.280T>A (p.Cys94Ser)
c.5107T>A (p.Cys1703Ser)
c.5134T>A (p.Cys1712Ser)
c.5125T>A (p.Cys1709Ser)
c.5116T>A (p.Cys1706Ser)
c.5002T>A (p.Cys1668Ser)
c.2986T>A (p.Cys996Ser)
c.676T>A (p.Cys226Ser)
n.5375T>A
n.5107T>A (p.Cys1703Ser)
n.280T>A (p.Cys94Ser)
18g.23876402T>CCA402045084LAMA3c.280T>C (p.Cys94Arg)
c.5107T>C (p.Cys1703Arg)
c.5134T>C (p.Cys1712Arg)
c.5125T>C (p.Cys1709Arg)
c.5116T>C (p.Cys1706Arg)
c.5002T>C (p.Cys1668Arg)
c.2986T>C (p.Cys996Arg)
c.676T>C (p.Cys226Arg)
n.5375T>C
n.5107T>C (p.Cys1703Arg)
n.280T>C (p.Cys94Arg)
18g.23876402T>GCA402045085LAMA3c.280T>G (p.Cys94Gly)
c.5107T>G (p.Cys1703Gly)
c.5134T>G (p.Cys1712Gly)
c.5125T>G (p.Cys1709Gly)
c.5116T>G (p.Cys1706Gly)
c.5002T>G (p.Cys1668Gly)
c.2986T>G (p.Cys996Gly)
c.676T>G (p.Cys226Gly)
n.5375T>G
n.5107T>G (p.Cys1703Gly)
n.280T>G (p.Cys94Gly)
18g.23876403delCA628681719LAMA3c.281del (p.Cys94LeufsTer?)
c.5108del (p.Cys1703LeufsTer?)
c.5135del (p.Cys1712LeufsTer?)
c.5126del (p.Cys1709LeufsTer?)
c.5117del (p.Cys1706LeufsTer?)
c.5003del (p.Cys1668LeufsTer?)
c.2987del (p.Cys996LeufsTer?)
c.677del (p.Cys226LeufsTer?)
n.5376del
n.5108del (p.Cys1703LeufsTer?)
n.281del (p.Cys94LeufsTer?)
dbSNP gnomAD
18g.23876403G>ACA402045088LAMA3c.281G>A (p.Cys94Tyr)
c.5108G>A (p.Cys1703Tyr)
c.5135G>A (p.Cys1712Tyr)
c.5126G>A (p.Cys1709Tyr)
c.5117G>A (p.Cys1706Tyr)
c.5003G>A (p.Cys1668Tyr)
c.2987G>A (p.Cys996Tyr)
c.677G>A (p.Cys226Tyr)
n.5376G>A
n.5108G>A (p.Cys1703Tyr)
n.281G>A (p.Cys94Tyr)
18g.23876403G>CCA402045086LAMA3c.281G>C (p.Cys94Ser)
c.5108G>C (p.Cys1703Ser)
c.5135G>C (p.Cys1712Ser)
c.5126G>C (p.Cys1709Ser)
c.5117G>C (p.Cys1706Ser)
c.5003G>C (p.Cys1668Ser)
c.2987G>C (p.Cys996Ser)
c.677G>C (p.Cys226Ser)
n.5376G>C
n.5108G>C (p.Cys1703Ser)
n.281G>C (p.Cys94Ser)
18g.23876403G>TCA402045087LAMA3c.281G>T (p.Cys94Phe)
c.5108G>T (p.Cys1703Phe)
c.5135G>T (p.Cys1712Phe)
c.5126G>T (p.Cys1709Phe)
c.5117G>T (p.Cys1706Phe)
c.5003G>T (p.Cys1668Phe)
c.2987G>T (p.Cys996Phe)
c.677G>T (p.Cys226Phe)
n.5376G>T
n.5108G>T (p.Cys1703Phe)
n.281G>T (p.Cys94Phe)
18g.23876404T>ACA402045089LAMA3c.282T>A (p.Cys94Ter)
c.5109T>A (p.Cys1703Ter)
c.5136T>A (p.Cys1712Ter)
c.5127T>A (p.Cys1709Ter)
c.5118T>A (p.Cys1706Ter)
c.5004T>A (p.Cys1668Ter)
c.2988T>A (p.Cys996Ter)
c.678T>A (p.Cys226Ter)
n.5377T>A
n.5109T>A (p.Cys1703Ter)
n.282T>A (p.Cys94Ter)
18g.23876404T>CCA503327960LAMA3c.282T>C (p.Cys94=)
c.5109T>C (p.Cys1703=)
c.5136T>C (p.Cys1712=)
c.5127T>C (p.Cys1709=)
c.5118T>C (p.Cys1706=)
c.5004T>C (p.Cys1668=)
c.2988T>C (p.Cys996=)
c.678T>C (p.Cys226=)
n.5377T>C
n.5109T>C (p.Cys1703=)
n.282T>C (p.Cys94=)
18g.23876404T>GCA8915885LAMA3c.282T>G (p.Cys94Trp)
c.5109T>G (p.Cys1703Trp)
c.5136T>G (p.Cys1712Trp)
c.5127T>G (p.Cys1709Trp)
c.5118T>G (p.Cys1706Trp)
c.5004T>G (p.Cys1668Trp)
c.2988T>G (p.Cys996Trp)
c.678T>G (p.Cys226Trp)
n.5377T>G
n.5109T>G (p.Cys1703Trp)
n.282T>G (p.Cys94Trp)
dbSNP ExAC gnomAD
18g.23876405G>ACA402045090LAMA3c.283G>A (p.Val95Ile)
c.5110G>A (p.Val1704Ile)
c.5137G>A (p.Val1713Ile)
c.5128G>A (p.Val1710Ile)
c.5119G>A (p.Val1707Ile)
c.5005G>A (p.Val1669Ile)
c.2989G>A (p.Val997Ile)
c.679G>A (p.Val227Ile)
n.5378G>A
n.5110G>A (p.Val1704Ile)
n.283G>A (p.Val95Ile)
18g.23876405G>CCA402045091LAMA3c.283G>C (p.Val95Leu)
c.5110G>C (p.Val1704Leu)
c.5137G>C (p.Val1713Leu)
c.5128G>C (p.Val1710Leu)
c.5119G>C (p.Val1707Leu)
c.5005G>C (p.Val1669Leu)
c.2989G>C (p.Val997Leu)
c.679G>C (p.Val227Leu)
n.5378G>C
n.5110G>C (p.Val1704Leu)
n.283G>C (p.Val95Leu)
18g.23876405G>TCA402045092LAMA3c.283G>T (p.Val95Phe)
c.5110G>T (p.Val1704Phe)
c.5137G>T (p.Val1713Phe)
c.5128G>T (p.Val1710Phe)
c.5119G>T (p.Val1707Phe)
c.5005G>T (p.Val1669Phe)
c.2989G>T (p.Val997Phe)
c.679G>T (p.Val227Phe)
n.5378G>T
n.5110G>T (p.Val1704Phe)
n.283G>T (p.Val95Phe)
18g.23876406T>ACA402045093LAMA3c.284T>A (p.Val95Asp)
c.5111T>A (p.Val1704Asp)
c.5138T>A (p.Val1713Asp)
c.5129T>A (p.Val1710Asp)
c.5120T>A (p.Val1707Asp)
c.5006T>A (p.Val1669Asp)
c.2990T>A (p.Val997Asp)
c.680T>A (p.Val227Asp)
n.5379T>A
n.5111T>A (p.Val1704Asp)
n.284T>A (p.Val95Asp)
18g.23876406T>CCA402045094LAMA3c.284T>C (p.Val95Ala)
c.5111T>C (p.Val1704Ala)
c.5138T>C (p.Val1713Ala)
c.5129T>C (p.Val1710Ala)
c.5120T>C (p.Val1707Ala)
c.5006T>C (p.Val1669Ala)
c.2990T>C (p.Val997Ala)
c.680T>C (p.Val227Ala)
n.5379T>C
n.5111T>C (p.Val1704Ala)
n.284T>C (p.Val95Ala)
18g.23876406T>GCA402045095LAMA3c.284T>G (p.Val95Gly)
c.5111T>G (p.Val1704Gly)
c.5138T>G (p.Val1713Gly)
c.5129T>G (p.Val1710Gly)
c.5120T>G (p.Val1707Gly)
c.5006T>G (p.Val1669Gly)
c.2990T>G (p.Val997Gly)
c.680T>G (p.Val227Gly)
n.5379T>G
n.5111T>G (p.Val1704Gly)
n.284T>G (p.Val95Gly)
18g.23876407T>ACA503327962LAMA3c.285T>A (p.Val95=)
c.5112T>A (p.Val1704=)
c.5139T>A (p.Val1713=)
c.5130T>A (p.Val1710=)
c.5121T>A (p.Val1707=)
c.5007T>A (p.Val1669=)
c.2991T>A (p.Val997=)
c.681T>A (p.Val227=)
n.5380T>A
n.5112T>A (p.Val1704=)
n.285T>A (p.Val95=)
18g.23876407T>CCA503327964LAMA3c.285T>C (p.Val95=)
c.5112T>C (p.Val1704=)
c.5139T>C (p.Val1713=)
c.5130T>C (p.Val1710=)
c.5121T>C (p.Val1707=)
c.5007T>C (p.Val1669=)
c.2991T>C (p.Val997=)
c.681T>C (p.Val227=)
n.5380T>C
n.5112T>C (p.Val1704=)
n.285T>C (p.Val95=)
18g.23876407T>GCA503327966LAMA3c.285T>G (p.Val95=)
c.5112T>G (p.Val1704=)
c.5139T>G (p.Val1713=)
c.5130T>G (p.Val1710=)
c.5121T>G (p.Val1707=)
c.5007T>G (p.Val1669=)
c.2991T>G (p.Val997=)
c.681T>G (p.Val227=)
n.5380T>G
n.5112T>G (p.Val1704=)
n.285T>G (p.Val95=)
18g.23876408G>ACA402045096LAMA3c.285+1G>A (p.=)
c.5112+1G>A (p.=)
c.5139+1G>A (p.=)
c.5130+1G>A (p.=)
c.5121+1G>A (p.=)
c.5007+1G>A (p.=)
c.2991+1G>A (p.=)
c.681+1G>A (p.=)
n.5380+1G>A
n.5112+1G>A (p.=)
n.285+1G>A (p.=)
ClinVar COSMIC COSMIC
18g.23876408G>CCA402045097LAMA3c.285+1G>C (p.=)
c.5112+1G>C (p.=)
c.5139+1G>C (p.=)
c.5130+1G>C (p.=)
c.5121+1G>C (p.=)
c.5007+1G>C (p.=)
c.2991+1G>C (p.=)
c.681+1G>C (p.=)
n.5380+1G>C
n.5112+1G>C (p.=)
n.285+1G>C (p.=)
18g.23876408G>TCA16041928LAMA3c.285+1G>T (p.=)
c.5112+1G>T (p.=)
c.5139+1G>T (p.=)
c.5130+1G>T (p.=)
c.5121+1G>T (p.=)
c.5007+1G>T (p.=)
c.2991+1G>T (p.=)
c.681+1G>T (p.=)
n.5380+1G>T
n.5112+1G>T (p.=)
n.285+1G>T (p.=)
ClinVar dbSNP
18g.23876409T>ACA402045100LAMA3c.285+2T>A (p.=)
c.5112+2T>A (p.=)
c.5139+2T>A (p.=)
c.5130+2T>A (p.=)
c.5121+2T>A (p.=)
c.5007+2T>A (p.=)
c.2991+2T>A (p.=)
c.681+2T>A (p.=)
n.5380+2T>A
n.5112+2T>A (p.=)
n.285+2T>A (p.=)
18g.23876409T>CCA402045099LAMA3c.285+2T>C (p.=)
c.5112+2T>C (p.=)
c.5139+2T>C (p.=)
c.5130+2T>C (p.=)
c.5121+2T>C (p.=)
c.5007+2T>C (p.=)
c.2991+2T>C (p.=)
c.681+2T>C (p.=)
n.5380+2T>C
n.5112+2T>C (p.=)
n.285+2T>C (p.=)
18g.23876409T>GCA402045098LAMA3c.285+2T>G (p.=)
c.5112+2T>G (p.=)
c.5139+2T>G (p.=)
c.5130+2T>G (p.=)
c.5121+2T>G (p.=)
c.5007+2T>G (p.=)
c.2991+2T>G (p.=)
c.681+2T>G (p.=)
n.5380+2T>G
n.5112+2T>G (p.=)
n.285+2T>G (p.=)
ClinVar
18g.23876413T>CCA777750488LAMA3c.285+6T>C (p.=)
c.5112+6T>C (p.=)
c.5139+6T>C (p.=)
c.5130+6T>C (p.=)
c.5121+6T>C (p.=)
c.5007+6T>C (p.=)
c.2991+6T>C (p.=)
c.681+6T>C (p.=)
n.5380+6T>C
n.5112+6T>C (p.=)
n.285+6T>C (p.=)

Number of alleles fetched