Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23898980A>CCA402046937LAMA3c.924A>C (p.Gln308His)
c.5751A>C (p.Gln1917His)
c.2643A>C (p.Gln881His)
n.139A>C
c.529A>C
n.329A>C
c.5778A>C (p.Gln1926His)
c.5769A>C (p.Gln1923His)
c.5760A>C (p.Gln1920His)
c.5646A>C (p.Gln1882His)
c.3630A>C (p.Gln1210His)
c.1320A>C (p.Gln440His)
n.6019A>C
18g.23898980A>GCA503522300LAMA3c.924A>G (p.Gln308=)
c.5751A>G (p.Gln1917=)
c.2643A>G (p.Gln881=)
n.139A>G
c.529A>G
n.329A>G
c.5778A>G (p.Gln1926=)
c.5769A>G (p.Gln1923=)
c.5760A>G (p.Gln1920=)
c.5646A>G (p.Gln1882=)
c.3630A>G (p.Gln1210=)
c.1320A>G (p.Gln440=)
n.6019A>G
18g.23898980A>TCA402046938LAMA3c.924A>T (p.Gln308His)
c.5751A>T (p.Gln1917His)
c.2643A>T (p.Gln881His)
n.139A>T
c.529A>T
n.329A>T
c.5778A>T (p.Gln1926His)
c.5769A>T (p.Gln1923His)
c.5760A>T (p.Gln1920His)
c.5646A>T (p.Gln1882His)
c.3630A>T (p.Gln1210His)
c.1320A>T (p.Gln440His)
n.6019A>T
18g.23898981A=CA2290322249LAMA3c.925A= (p.Thr309=)
c.5752A= (p.Thr1918=)
c.2644A= (p.Thr882=)
n.140A=
c.530A=
n.330A=
c.5779A= (p.Thr1927=)
c.5770A= (p.Thr1924=)
c.5761A= (p.Thr1921=)
c.5647A= (p.Thr1883=)
c.3631A= (p.Thr1211=)
c.1321A= (p.Thr441=)
n.6020A=
18g.23898981A>CCA402046939LAMA3c.925A>C (p.Thr309Pro)
c.5752A>C (p.Thr1918Pro)
c.2644A>C (p.Thr882Pro)
n.140A>C
c.530A>C
n.330A>C
c.5779A>C (p.Thr1927Pro)
c.5770A>C (p.Thr1924Pro)
c.5761A>C (p.Thr1921Pro)
c.5647A>C (p.Thr1883Pro)
c.3631A>C (p.Thr1211Pro)
c.1321A>C (p.Thr441Pro)
n.6020A>C
18g.23898981A>GCA402046940LAMA3c.925A>G (p.Thr309Ala)
c.5752A>G (p.Thr1918Ala)
c.2644A>G (p.Thr882Ala)
n.140A>G
c.530A>G
n.330A>G
c.5779A>G (p.Thr1927Ala)
c.5770A>G (p.Thr1924Ala)
c.5761A>G (p.Thr1921Ala)
c.5647A>G (p.Thr1883Ala)
c.3631A>G (p.Thr1211Ala)
c.1321A>G (p.Thr441Ala)
n.6020A>G
 dbSNP gnomAD v4
18g.23898981A>TCA402046941LAMA3c.925A>T (p.Thr309Ser)
c.5752A>T (p.Thr1918Ser)
c.2644A>T (p.Thr882Ser)
n.140A>T
c.530A>T
n.330A>T
c.5779A>T (p.Thr1927Ser)
c.5770A>T (p.Thr1924Ser)
c.5761A>T (p.Thr1921Ser)
c.5647A>T (p.Thr1883Ser)
c.3631A>T (p.Thr1211Ser)
c.1321A>T (p.Thr441Ser)
n.6020A>T
18g.23898982C>ACA402046942LAMA3c.926C>A (p.Thr309Lys)
c.5753C>A (p.Thr1918Lys)
c.2645C>A (p.Thr882Lys)
n.141C>A
c.531C>A
n.331C>A
c.5780C>A (p.Thr1927Lys)
c.5771C>A (p.Thr1924Lys)
c.5762C>A (p.Thr1921Lys)
c.5648C>A (p.Thr1883Lys)
c.3632C>A (p.Thr1211Lys)
c.1322C>A (p.Thr441Lys)
n.6021C>A
18g.23898982C=CA2290322250LAMA3c.926C= (p.Thr309=)
c.5753C= (p.Thr1918=)
c.2645C= (p.Thr882=)
n.141C=
c.531C=
n.331C=
c.5780C= (p.Thr1927=)
c.5771C= (p.Thr1924=)
c.5762C= (p.Thr1921=)
c.5648C= (p.Thr1883=)
c.3632C= (p.Thr1211=)
c.1322C= (p.Thr441=)
n.6021C=
18g.23898982C>GCA402046943LAMA3c.926C>G (p.Thr309Arg)
c.5753C>G (p.Thr1918Arg)
c.2645C>G (p.Thr882Arg)
n.141C>G
c.531C>G
n.331C>G
c.5780C>G (p.Thr1927Arg)
c.5771C>G (p.Thr1924Arg)
c.5762C>G (p.Thr1921Arg)
c.5648C>G (p.Thr1883Arg)
c.3632C>G (p.Thr1211Arg)
c.1322C>G (p.Thr441Arg)
n.6021C>G
18g.23898982C>TCA402046944LAMA3c.926C>T (p.Thr309Ile)
c.5753C>T (p.Thr1918Ile)
c.2645C>T (p.Thr882Ile)
n.141C>T
c.531C>T
n.331C>T
c.5780C>T (p.Thr1927Ile)
c.5771C>T (p.Thr1924Ile)
c.5762C>T (p.Thr1921Ile)
c.5648C>T (p.Thr1883Ile)
c.3632C>T (p.Thr1211Ile)
c.1322C>T (p.Thr441Ile)
n.6021C>T
 dbSNP gnomAD v3 gnomAD v4
18g.23898983A=CA2290322251LAMA3c.927A= (p.Thr309=)
c.5754A= (p.Thr1918=)
c.2646A= (p.Thr882=)
n.142A=
c.532A=
n.332A=
c.5781A= (p.Thr1927=)
c.5772A= (p.Thr1924=)
c.5763A= (p.Thr1921=)
c.5649A= (p.Thr1883=)
c.3633A= (p.Thr1211=)
c.1323A= (p.Thr441=)
n.6022A=
18g.23898983A>CCA503522301LAMA3c.927A>C (p.Thr309=)
c.5754A>C (p.Thr1918=)
c.2646A>C (p.Thr882=)
n.142A>C
c.532A>C
n.332A>C
c.5781A>C (p.Thr1927=)
c.5772A>C (p.Thr1924=)
c.5763A>C (p.Thr1921=)
c.5649A>C (p.Thr1883=)
c.3633A>C (p.Thr1211=)
c.1323A>C (p.Thr441=)
n.6022A>C
18g.23898983A>GCA503522302LAMA3c.927A>G (p.Thr309=)
c.5754A>G (p.Thr1918=)
c.2646A>G (p.Thr882=)
n.142A>G
c.532A>G
n.332A>G
c.5781A>G (p.Thr1927=)
c.5772A>G (p.Thr1924=)
c.5763A>G (p.Thr1921=)
c.5649A>G (p.Thr1883=)
c.3633A>G (p.Thr1211=)
c.1323A>G (p.Thr441=)
n.6022A>G
 dbSNP
18g.23898983A>TCA503522303LAMA3c.927A>T (p.Thr309=)
c.5754A>T (p.Thr1918=)
c.2646A>T (p.Thr882=)
n.142A>T
c.532A>T
n.332A>T
c.5781A>T (p.Thr1927=)
c.5772A>T (p.Thr1924=)
c.5763A>T (p.Thr1921=)
c.5649A>T (p.Thr1883=)
c.3633A>T (p.Thr1211=)
c.1323A>T (p.Thr441=)
n.6022A>T
18g.23898984T>ACA402046945LAMA3c.928T>A (p.Leu310Ile)
c.5755T>A (p.Leu1919Ile)
c.2647T>A (p.Leu883Ile)
n.143T>A
c.533T>A
n.333T>A
c.5782T>A (p.Leu1928Ile)
c.5773T>A (p.Leu1925Ile)
c.5764T>A (p.Leu1922Ile)
c.5650T>A (p.Leu1884Ile)
c.3634T>A (p.Leu1212Ile)
c.1324T>A (p.Leu442Ile)
n.6023T>A
18g.23898984T>CCA503522304LAMA3c.928T>C (p.Leu310=)
c.5755T>C (p.Leu1919=)
c.2647T>C (p.Leu883=)
n.143T>C
c.533T>C
n.333T>C
c.5782T>C (p.Leu1928=)
c.5773T>C (p.Leu1925=)
c.5764T>C (p.Leu1922=)
c.5650T>C (p.Leu1884=)
c.3634T>C (p.Leu1212=)
c.1324T>C (p.Leu442=)
n.6023T>C
 COSMIC COSMIC
18g.23898984T>GCA402046946LAMA3c.928T>G (p.Leu310Val)
c.5755T>G (p.Leu1919Val)
c.2647T>G (p.Leu883Val)
n.143T>G
c.533T>G
n.333T>G
c.5782T>G (p.Leu1928Val)
c.5773T>G (p.Leu1925Val)
c.5764T>G (p.Leu1922Val)
c.5650T>G (p.Leu1884Val)
c.3634T>G (p.Leu1212Val)
c.1324T>G (p.Leu442Val)
n.6023T>G
18g.23898985T>ACA402046949LAMA3c.929T>A (p.Leu310Ter)
c.5756T>A (p.Leu1919Ter)
c.2648T>A (p.Leu883Ter)
n.144T>A
c.534T>A
n.334T>A
c.5783T>A (p.Leu1928Ter)
c.5774T>A (p.Leu1925Ter)
c.5765T>A (p.Leu1922Ter)
c.5651T>A (p.Leu1884Ter)
c.3635T>A (p.Leu1212Ter)
c.1325T>A (p.Leu442Ter)
n.6024T>A
18g.23898985T>CCA402046948LAMA3c.929T>C (p.Leu310Ser)
c.5756T>C (p.Leu1919Ser)
c.2648T>C (p.Leu883Ser)
n.144T>C
c.534T>C
n.334T>C
c.5783T>C (p.Leu1928Ser)
c.5774T>C (p.Leu1925Ser)
c.5765T>C (p.Leu1922Ser)
c.5651T>C (p.Leu1884Ser)
c.3635T>C (p.Leu1212Ser)
c.1325T>C (p.Leu442Ser)
n.6024T>C
18g.23898985T>GCA402046947LAMA3c.929T>G (p.Leu310Ter)
c.5756T>G (p.Leu1919Ter)
c.2648T>G (p.Leu883Ter)
n.144T>G
c.534T>G
n.334T>G
c.5783T>G (p.Leu1928Ter)
c.5774T>G (p.Leu1925Ter)
c.5765T>G (p.Leu1922Ter)
c.5651T>G (p.Leu1884Ter)
c.3635T>G (p.Leu1212Ter)
c.1325T>G (p.Leu442Ter)
n.6024T>G
18g.23898986A>CCA402046950LAMA3c.930A>C (p.Leu310Phe)
c.5757A>C (p.Leu1919Phe)
c.2649A>C (p.Leu883Phe)
n.145A>C
c.535A>C
n.335A>C
c.5784A>C (p.Leu1928Phe)
c.5775A>C (p.Leu1925Phe)
c.5766A>C (p.Leu1922Phe)
c.5652A>C (p.Leu1884Phe)
c.3636A>C (p.Leu1212Phe)
c.1326A>C (p.Leu442Phe)
n.6025A>C
18g.23898986A>GCA503522305LAMA3c.930A>G (p.Leu310=)
c.5757A>G (p.Leu1919=)
c.2649A>G (p.Leu883=)
n.145A>G
c.535A>G
n.335A>G
c.5784A>G (p.Leu1928=)
c.5775A>G (p.Leu1925=)
c.5766A>G (p.Leu1922=)
c.5652A>G (p.Leu1884=)
c.3636A>G (p.Leu1212=)
c.1326A>G (p.Leu442=)
n.6025A>G
18g.23898986A>TCA402046951LAMA3c.930A>T (p.Leu310Phe)
c.5757A>T (p.Leu1919Phe)
c.2649A>T (p.Leu883Phe)
n.145A>T
c.535A>T
n.335A>T
c.5784A>T (p.Leu1928Phe)
c.5775A>T (p.Leu1925Phe)
c.5766A>T (p.Leu1922Phe)
c.5652A>T (p.Leu1884Phe)
c.3636A>T (p.Leu1212Phe)
c.1326A>T (p.Leu442Phe)
n.6025A>T
18g.23898987A>CCA402046952LAMA3c.931A>C (p.Asn311His)
c.5758A>C (p.Asn1920His)
c.2650A>C (p.Asn884His)
n.146A>C
c.536A>C
n.336A>C
c.5785A>C (p.Asn1929His)
c.5776A>C (p.Asn1926His)
c.5767A>C (p.Asn1923His)
c.5653A>C (p.Asn1885His)
c.3637A>C (p.Asn1213His)
c.1327A>C (p.Asn443His)
n.6026A>C
18g.23898987A>GCA402046953LAMA3c.931A>G (p.Asn311Asp)
c.5758A>G (p.Asn1920Asp)
c.2650A>G (p.Asn884Asp)
n.146A>G
c.536A>G
n.336A>G
c.5785A>G (p.Asn1929Asp)
c.5776A>G (p.Asn1926Asp)
c.5767A>G (p.Asn1923Asp)
c.5653A>G (p.Asn1885Asp)
c.3637A>G (p.Asn1213Asp)
c.1327A>G (p.Asn443Asp)
n.6026A>G
18g.23898987A>TCA402046954LAMA3c.931A>T (p.Asn311Tyr)
c.5758A>T (p.Asn1920Tyr)
c.2650A>T (p.Asn884Tyr)
n.146A>T
c.536A>T
n.336A>T
c.5785A>T (p.Asn1929Tyr)
c.5776A>T (p.Asn1926Tyr)
c.5767A>T (p.Asn1923Tyr)
c.5653A>T (p.Asn1885Tyr)
c.3637A>T (p.Asn1213Tyr)
c.1327A>T (p.Asn443Tyr)
n.6026A>T
18g.23898988A>CCA402046955LAMA3c.932A>C (p.Asn311Thr)
c.5759A>C (p.Asn1920Thr)
c.2651A>C (p.Asn884Thr)
n.147A>C
c.537A>C
n.337A>C
c.5786A>C (p.Asn1929Thr)
c.5777A>C (p.Asn1926Thr)
c.5768A>C (p.Asn1923Thr)
c.5654A>C (p.Asn1885Thr)
c.3638A>C (p.Asn1213Thr)
c.1328A>C (p.Asn443Thr)
n.6027A>C
18g.23898988A>GCA402046956LAMA3c.932A>G (p.Asn311Ser)
c.5759A>G (p.Asn1920Ser)
c.2651A>G (p.Asn884Ser)
n.147A>G
c.537A>G
n.337A>G
c.5786A>G (p.Asn1929Ser)
c.5777A>G (p.Asn1926Ser)
c.5768A>G (p.Asn1923Ser)
c.5654A>G (p.Asn1885Ser)
c.3638A>G (p.Asn1213Ser)
c.1328A>G (p.Asn443Ser)
n.6027A>G
18g.23898988A>TCA402046957LAMA3c.932A>T (p.Asn311Ile)
c.5759A>T (p.Asn1920Ile)
c.2651A>T (p.Asn884Ile)
n.147A>T
c.537A>T
n.337A>T
c.5786A>T (p.Asn1929Ile)
c.5777A>T (p.Asn1926Ile)
c.5768A>T (p.Asn1923Ile)
c.5654A>T (p.Asn1885Ile)
c.3638A>T (p.Asn1213Ile)
c.1328A>T (p.Asn443Ile)
n.6027A>T
18g.23898989C>ACA402046958LAMA3c.933C>A (p.Asn311Lys)
c.5760C>A (p.Asn1920Lys)
c.2652C>A (p.Asn884Lys)
n.148C>A
c.538C>A
n.338C>A
c.5787C>A (p.Asn1929Lys)
c.5778C>A (p.Asn1926Lys)
c.5769C>A (p.Asn1923Lys)
c.5655C>A (p.Asn1885Lys)
c.3639C>A (p.Asn1213Lys)
c.1329C>A (p.Asn443Lys)
n.6028C>A
18g.23898989C=CA2290322252LAMA3c.933C= (p.Asn311=)
c.5760C= (p.Asn1920=)
c.2652C= (p.Asn884=)
n.148C=
c.538C=
n.338C=
c.5787C= (p.Asn1929=)
c.5778C= (p.Asn1926=)
c.5769C= (p.Asn1923=)
c.5655C= (p.Asn1885=)
c.3639C= (p.Asn1213=)
c.1329C= (p.Asn443=)
n.6028C=
18g.23898989C>GCA402046959LAMA3c.933C>G (p.Asn311Lys)
c.5760C>G (p.Asn1920Lys)
c.2652C>G (p.Asn884Lys)
n.148C>G
c.538C>G
n.338C>G
c.5787C>G (p.Asn1929Lys)
c.5778C>G (p.Asn1926Lys)
c.5769C>G (p.Asn1923Lys)
c.5655C>G (p.Asn1885Lys)
c.3639C>G (p.Asn1213Lys)
c.1329C>G (p.Asn443Lys)
n.6028C>G
18g.23898989C>TCA8916162LAMA3c.933C>T (p.Asn311=)
c.5760C>T (p.Asn1920=)
c.2652C>T (p.Asn884=)
n.148C>T
c.538C>T
n.338C>T
c.5787C>T (p.Asn1929=)
c.5778C>T (p.Asn1926=)
c.5769C>T (p.Asn1923=)
c.5655C>T (p.Asn1885=)
c.3639C>T (p.Asn1213=)
c.1329C>T (p.Asn443=)
n.6028C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23898990A>CCA402046961LAMA3c.934A>C (p.Asn312His)
c.5761A>C (p.Asn1921His)
c.2653A>C (p.Asn885His)
n.149A>C
c.539A>C
n.339A>C
c.5788A>C (p.Asn1930His)
c.5779A>C (p.Asn1927His)
c.5770A>C (p.Asn1924His)
c.5656A>C (p.Asn1886His)
c.3640A>C (p.Asn1214His)
c.1330A>C (p.Asn444His)
n.6029A>C
18g.23898990A>GCA402046962LAMA3c.934A>G (p.Asn312Asp)
c.5761A>G (p.Asn1921Asp)
c.2653A>G (p.Asn885Asp)
n.149A>G
c.539A>G
n.339A>G
c.5788A>G (p.Asn1930Asp)
c.5779A>G (p.Asn1927Asp)
c.5770A>G (p.Asn1924Asp)
c.5656A>G (p.Asn1886Asp)
c.3640A>G (p.Asn1214Asp)
c.1330A>G (p.Asn444Asp)
n.6029A>G
18g.23898990A>TCA402046960LAMA3c.934A>T (p.Asn312Tyr)
c.5761A>T (p.Asn1921Tyr)
c.2653A>T (p.Asn885Tyr)
n.149A>T
c.539A>T
n.339A>T
c.5788A>T (p.Asn1930Tyr)
c.5779A>T (p.Asn1927Tyr)
c.5770A>T (p.Asn1924Tyr)
c.5656A>T (p.Asn1886Tyr)
c.3640A>T (p.Asn1214Tyr)
c.1330A>T (p.Asn444Tyr)
n.6029A>T
18g.23898991A=CA2290322253LAMA3c.935A= (p.Asn312=)
c.5762A= (p.Asn1921=)
c.2654A= (p.Asn885=)
n.150A=
c.540A=
n.340A=
c.5789A= (p.Asn1930=)
c.5780A= (p.Asn1927=)
c.5771A= (p.Asn1924=)
c.5657A= (p.Asn1886=)
c.3641A= (p.Asn1214=)
c.1331A= (p.Asn444=)
n.6030A=
18g.23898991A>CCA402046963LAMA3c.935A>C (p.Asn312Thr)
c.5762A>C (p.Asn1921Thr)
c.2654A>C (p.Asn885Thr)
n.150A>C
c.540A>C
n.340A>C
c.5789A>C (p.Asn1930Thr)
c.5780A>C (p.Asn1927Thr)
c.5771A>C (p.Asn1924Thr)
c.5657A>C (p.Asn1886Thr)
c.3641A>C (p.Asn1214Thr)
c.1331A>C (p.Asn444Thr)
n.6030A>C
18g.23898991A>GCA8916163LAMA3c.935A>G (p.Asn312Ser)
c.5762A>G (p.Asn1921Ser)
c.2654A>G (p.Asn885Ser)
n.150A>G
c.540A>G
n.340A>G
c.5789A>G (p.Asn1930Ser)
c.5780A>G (p.Asn1927Ser)
c.5771A>G (p.Asn1924Ser)
c.5657A>G (p.Asn1886Ser)
c.3641A>G (p.Asn1214Ser)
c.1331A>G (p.Asn444Ser)
n.6030A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23898991A>TCA402046964LAMA3c.935A>T (p.Asn312Ile)
c.5762A>T (p.Asn1921Ile)
c.2654A>T (p.Asn885Ile)
n.150A>T
c.540A>T
n.340A>T
c.5789A>T (p.Asn1930Ile)
c.5780A>T (p.Asn1927Ile)
c.5771A>T (p.Asn1924Ile)
c.5657A>T (p.Asn1886Ile)
c.3641A>T (p.Asn1214Ile)
c.1331A>T (p.Asn444Ile)
n.6030A>T
18g.23898992C>ACA402046965LAMA3c.936C>A (p.Asn312Lys)
c.5763C>A (p.Asn1921Lys)
c.2655C>A (p.Asn885Lys)
n.151C>A
c.541C>A
n.341C>A
c.5790C>A (p.Asn1930Lys)
c.5781C>A (p.Asn1927Lys)
c.5772C>A (p.Asn1924Lys)
c.5658C>A (p.Asn1886Lys)
c.3642C>A (p.Asn1214Lys)
c.1332C>A (p.Asn444Lys)
n.6031C>A
18g.23898992C>GCA402046966LAMA3c.936C>G (p.Asn312Lys)
c.5763C>G (p.Asn1921Lys)
c.2655C>G (p.Asn885Lys)
n.151C>G
c.541C>G
n.341C>G
c.5790C>G (p.Asn1930Lys)
c.5781C>G (p.Asn1927Lys)
c.5772C>G (p.Asn1924Lys)
c.5658C>G (p.Asn1886Lys)
c.3642C>G (p.Asn1214Lys)
c.1332C>G (p.Asn444Lys)
n.6031C>G
18g.23898992C>TCA503522306LAMA3c.936C>T (p.Asn312=)
c.5763C>T (p.Asn1921=)
c.2655C>T (p.Asn885=)
n.151C>T
c.541C>T
n.341C>T
c.5790C>T (p.Asn1930=)
c.5781C>T (p.Asn1927=)
c.5772C>T (p.Asn1924=)
c.5658C>T (p.Asn1886=)
c.3642C>T (p.Asn1214=)
c.1332C>T (p.Asn444=)
n.6031C>T
18g.23898993A>CCA402046967LAMA3c.937A>C (p.Asn313His)
c.5764A>C (p.Asn1922His)
c.2656A>C (p.Asn886His)
n.152A>C
c.542A>C
n.342A>C
c.5791A>C (p.Asn1931His)
c.5782A>C (p.Asn1928His)
c.5773A>C (p.Asn1925His)
c.5659A>C (p.Asn1887His)
c.3643A>C (p.Asn1215His)
c.1333A>C (p.Asn445His)
n.6032A>C
18g.23898993A>GCA402046968LAMA3c.937A>G (p.Asn313Asp)
c.5764A>G (p.Asn1922Asp)
c.2656A>G (p.Asn886Asp)
n.152A>G
c.542A>G
n.342A>G
c.5791A>G (p.Asn1931Asp)
c.5782A>G (p.Asn1928Asp)
c.5773A>G (p.Asn1925Asp)
c.5659A>G (p.Asn1887Asp)
c.3643A>G (p.Asn1215Asp)
c.1333A>G (p.Asn445Asp)
n.6032A>G
18g.23898993A>TCA402046969LAMA3c.937A>T (p.Asn313Tyr)
c.5764A>T (p.Asn1922Tyr)
c.2656A>T (p.Asn886Tyr)
n.152A>T
c.542A>T
n.342A>T
c.5791A>T (p.Asn1931Tyr)
c.5782A>T (p.Asn1928Tyr)
c.5773A>T (p.Asn1925Tyr)
c.5659A>T (p.Asn1887Tyr)
c.3643A>T (p.Asn1215Tyr)
c.1333A>T (p.Asn445Tyr)
n.6032A>T
18g.23898993_23898995delCA2641294605LAMA3c.937_939del (p.Asn313del)
c.5764_5766del (p.Asn1922del)
c.2656_2658del (p.Asn886del)
n.152_154del
c.542_544del
n.342_344del
c.5791_5793del (p.Asn1931del)
c.5782_5784del (p.Asn1928del)
c.5773_5775del (p.Asn1925del)
c.5659_5661del (p.Asn1887del)
c.3643_3645del (p.Asn1215del)
c.1333_1335del (p.Asn445del)
n.6032_6034del
 gnomAD v4
18g.23898994A=CA2290322254LAMA3c.938A= (p.Asn313=)
c.5765A= (p.Asn1922=)
c.2657A= (p.Asn886=)
n.153A=
c.543A=
n.343A=
c.5792A= (p.Asn1931=)
c.5783A= (p.Asn1928=)
c.5774A= (p.Asn1925=)
c.5660A= (p.Asn1887=)
c.3644A= (p.Asn1215=)
c.1334A= (p.Asn445=)
n.6033A=
18g.23898994A>CCA402046970LAMA3c.938A>C (p.Asn313Thr)
c.5765A>C (p.Asn1922Thr)
c.2657A>C (p.Asn886Thr)
n.153A>C
c.543A>C
n.343A>C
c.5792A>C (p.Asn1931Thr)
c.5783A>C (p.Asn1928Thr)
c.5774A>C (p.Asn1925Thr)
c.5660A>C (p.Asn1887Thr)
c.3644A>C (p.Asn1215Thr)
c.1334A>C (p.Asn445Thr)
n.6033A>C

Number of alleles fetched