| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23876394C>A | CA402045069 | LAMA3 | c.272C>A (p.Ser91Ter) c.5099C>A (p.Ser1700Ter) c.1991C>A (p.Ser664Ter) 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 | gnomAD v4 |
| 18 | g.23876394C= | CA2290312361 | LAMA3 | c.272C= (p.Ser91=) c.5099C= (p.Ser1700=) c.1991C= (p.Ser664=) c.5126C= (p.Ser1709=) c.5117C= (p.Ser1706=) c.5108C= (p.Ser1703=) c.4994C= (p.Ser1665=) c.2978C= (p.Ser993=) c.668C= (p.Ser223=) n.5367C= | |
| 18 | g.23876394C>G | CA8915884 | LAMA3 | c.272C>G (p.Ser91Ter) c.5099C>G (p.Ser1700Ter) c.1991C>G (p.Ser664Ter) 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 | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876394C>T | CA402045068 | LAMA3 | c.272C>T (p.Ser91Leu) c.5099C>T (p.Ser1700Leu) c.1991C>T (p.Ser664Leu) 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 | gnomAD v4 |
| 18 | g.23876395A>C | CA503327943 | LAMA3 | c.273A>C (p.Ser91=) c.5100A>C (p.Ser1700=) c.1992A>C (p.Ser664=) 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 | |
| 18 | g.23876395A>G | CA503327944 | LAMA3 | c.273A>G (p.Ser91=) c.5100A>G (p.Ser1700=) c.1992A>G (p.Ser664=) 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 | |
| 18 | g.23876395A>T | CA503327945 | LAMA3 | c.273A>T (p.Ser91=) c.5100A>T (p.Ser1700=) c.1992A>T (p.Ser664=) 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 | |
| 18 | g.23876396G>A | CA402045071 | LAMA3 | c.274G>A (p.Gly92Ser) c.5101G>A (p.Gly1701Ser) c.1993G>A (p.Gly665Ser) 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 | gnomAD v4 |
| 18 | g.23876396G>C | CA402045070 | LAMA3 | c.274G>C (p.Gly92Arg) c.5101G>C (p.Gly1701Arg) c.1993G>C (p.Gly665Arg) 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 | |
| 18 | g.23876396G>T | CA402045072 | LAMA3 | c.274G>T (p.Gly92Cys) c.5101G>T (p.Gly1701Cys) c.1993G>T (p.Gly665Cys) 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 | |
| 18 | g.23876397G>A | CA402045073 | LAMA3 | c.275G>A (p.Gly92Asp) c.5102G>A (p.Gly1701Asp) c.1994G>A (p.Gly665Asp) 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 | |
| 18 | g.23876397G>C | CA402045074 | LAMA3 | c.275G>C (p.Gly92Ala) c.5102G>C (p.Gly1701Ala) c.1994G>C (p.Gly665Ala) 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 | |
| 18 | g.23876397G>T | CA402045075 | LAMA3 | c.275G>T (p.Gly92Val) c.5102G>T (p.Gly1701Val) c.1994G>T (p.Gly665Val) 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 | gnomAD v4 |
| 18 | g.23876398C>A | CA503327951 | LAMA3 | c.276C>A (p.Gly92=) c.5103C>A (p.Gly1701=) c.1995C>A (p.Gly665=) 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 | |
| 18 | g.23876398C>G | CA503327950 | LAMA3 | c.276C>G (p.Gly92=) c.5103C>G (p.Gly1701=) c.1995C>G (p.Gly665=) 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 | |
| 18 | g.23876398C>T | CA503327949 | LAMA3 | c.276C>T (p.Gly92=) c.5103C>T (p.Gly1701=) c.1995C>T (p.Gly665=) 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 | |
| 18 | g.23876399A= | CA2290312362 | LAMA3 | c.277A= (p.Ile93=) c.5104A= (p.Ile1702=) c.1996A= (p.Ile666=) c.5131A= (p.Ile1711=) c.5122A= (p.Ile1708=) c.5113A= (p.Ile1705=) c.4999A= (p.Ile1667=) c.2983A= (p.Ile995=) c.673A= (p.Ile225=) n.5372A= | |
| 18 | g.23876399A>C | CA402045076 | LAMA3 | c.277A>C (p.Ile93Leu) c.5104A>C (p.Ile1702Leu) c.1996A>C (p.Ile666Leu) 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 | |
| 18 | g.23876399A>G | CA402045077 | LAMA3 | c.277A>G (p.Ile93Val) c.5104A>G (p.Ile1702Val) c.1996A>G (p.Ile666Val) 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 | dbSNP gnomAD v4 |
| 18 | g.23876399A>T | CA402045078 | LAMA3 | c.277A>T (p.Ile93Leu) c.5104A>T (p.Ile1702Leu) c.1996A>T (p.Ile666Leu) 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 | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23876400T>A | CA402045079 | LAMA3 | c.278T>A (p.Ile93Lys) c.5105T>A (p.Ile1702Lys) c.1997T>A (p.Ile666Lys) 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 | |
| 18 | g.23876400T>C | CA402045080 | LAMA3 | c.278T>C (p.Ile93Thr) c.5105T>C (p.Ile1702Thr) c.1997T>C (p.Ile666Thr) 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 | COSMIC COSMIC |
| 18 | g.23876400T>G | CA402045081 | LAMA3 | c.278T>G (p.Ile93Arg) c.5105T>G (p.Ile1702Arg) c.1997T>G (p.Ile666Arg) 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 | |
| 18 | g.23876401A= | CA2290312363 | LAMA3 | c.279A= (p.Ile93=) c.5106A= (p.Ile1702=) c.1998A= (p.Ile666=) c.5133A= (p.Ile1711=) c.5124A= (p.Ile1708=) c.5115A= (p.Ile1705=) c.5001A= (p.Ile1667=) c.2985A= (p.Ile995=) c.675A= (p.Ile225=) n.5374A= | |
| 18 | g.23876401A>C | CA503327954 | LAMA3 | c.279A>C (p.Ile93=) c.5106A>C (p.Ile1702=) c.1998A>C (p.Ile666=) 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 | |
| 18 | g.23876401A>G | CA402045082 | LAMA3 | c.279A>G (p.Ile93Met) c.5106A>G (p.Ile1702Met) c.1998A>G (p.Ile666Met) 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 | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23876401A>T | CA503327957 | LAMA3 | c.279A>T (p.Ile93=) c.5106A>T (p.Ile1702=) c.1998A>T (p.Ile666=) 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 | |
| 18 | g.23876402T>A | CA402045083 | LAMA3 | c.280T>A (p.Cys94Ser) c.5107T>A (p.Cys1703Ser) c.1999T>A (p.Cys667Ser) 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 | |
| 18 | g.23876402T>C | CA402045084 | LAMA3 | c.280T>C (p.Cys94Arg) c.5107T>C (p.Cys1703Arg) c.1999T>C (p.Cys667Arg) 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 | |
| 18 | g.23876402T>G | CA402045085 | LAMA3 | c.280T>G (p.Cys94Gly) c.5107T>G (p.Cys1703Gly) c.1999T>G (p.Cys667Gly) 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 | |
| 18 | g.23876402_23876403delinsTG | CA2290312364 | LAMA3 | c.280_281delinsTG (p.Cys94=) c.5107_5108delinsTG (p.Cys1703=) c.1999_2000delinsTG (p.Cys667=) c.5134_5135delinsTG (p.Cys1712=) c.5125_5126delinsTG (p.Cys1709=) c.5116_5117delinsTG (p.Cys1706=) c.5002_5003delinsTG (p.Cys1668=) c.2986_2987delinsTG (p.Cys996=) c.676_677delinsTG (p.Cys226=) n.5375_5376delinsTG | |
| 18 | g.23876403del | CA628681719 | LAMA3 | c.281del (p.Cys94LeufsTer?) c.5108del (p.Cys1703LeufsTer?) c.2000del (p.Cys667LeufsTer?) 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 | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23876403G>A | CA402045088 | LAMA3 | c.281G>A (p.Cys94Tyr) c.5108G>A (p.Cys1703Tyr) c.2000G>A (p.Cys667Tyr) 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 | |
| 18 | g.23876403G>C | CA402045086 | LAMA3 | c.281G>C (p.Cys94Ser) c.5108G>C (p.Cys1703Ser) c.2000G>C (p.Cys667Ser) 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 | |
| 18 | g.23876403G>T | CA402045087 | LAMA3 | c.281G>T (p.Cys94Phe) c.5108G>T (p.Cys1703Phe) c.2000G>T (p.Cys667Phe) 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 | |
| 18 | g.23876404T>A | CA402045089 | LAMA3 | c.282T>A (p.Cys94Ter) c.5109T>A (p.Cys1703Ter) c.2001T>A (p.Cys667Ter) 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 | |
| 18 | g.23876404T>C | CA503327960 | LAMA3 | c.282T>C (p.Cys94=) c.5109T>C (p.Cys1703=) c.2001T>C (p.Cys667=) 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 | |
| 18 | g.23876404T>G | CA8915885 | LAMA3 | c.282T>G (p.Cys94Trp) c.5109T>G (p.Cys1703Trp) c.2001T>G (p.Cys667Trp) 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 | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23876404T= | CA2290312365 | LAMA3 | c.282T= (p.Cys94=) c.5109T= (p.Cys1703=) c.2001T= (p.Cys667=) c.5136T= (p.Cys1712=) c.5127T= (p.Cys1709=) c.5118T= (p.Cys1706=) c.5004T= (p.Cys1668=) c.2988T= (p.Cys996=) c.678T= (p.Cys226=) n.5377T= | |
| 18 | g.23876405G>A | CA402045090 | LAMA3 | c.283G>A (p.Val95Ile) c.5110G>A (p.Val1704Ile) c.2002G>A (p.Val668Ile) 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 | gnomAD v4 |
| 18 | g.23876405G>C | CA402045091 | LAMA3 | c.283G>C (p.Val95Leu) c.5110G>C (p.Val1704Leu) c.2002G>C (p.Val668Leu) 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 | |
| 18 | g.23876405G>T | CA402045092 | LAMA3 | c.283G>T (p.Val95Phe) c.5110G>T (p.Val1704Phe) c.2002G>T (p.Val668Phe) 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 | dbSNP gnomAD v4 |
| 18 | g.23876406T>A | CA402045093 | LAMA3 | c.284T>A (p.Val95Asp) c.5111T>A (p.Val1704Asp) c.2003T>A (p.Val668Asp) 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 | |
| 18 | g.23876406T>C | CA402045094 | LAMA3 | c.284T>C (p.Val95Ala) c.5111T>C (p.Val1704Ala) c.2003T>C (p.Val668Ala) 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 | |
| 18 | g.23876406T>G | CA402045095 | LAMA3 | c.284T>G (p.Val95Gly) c.5111T>G (p.Val1704Gly) c.2003T>G (p.Val668Gly) 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 | |
| 18 | g.23876407T>A | CA503327962 | LAMA3 | c.285T>A (p.Val95=) c.5112T>A (p.Val1704=) c.2004T>A (p.Val668=) 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 | |
| 18 | g.23876407T>C | CA503327964 | LAMA3 | c.285T>C (p.Val95=) c.5112T>C (p.Val1704=) c.2004T>C (p.Val668=) 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 | gnomAD v4 |
| 18 | g.23876407T>G | CA503327966 | LAMA3 | c.285T>G (p.Val95=) c.5112T>G (p.Val1704=) c.2004T>G (p.Val668=) 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 | |
| 18 | g.23876408G>A | CA402045096 | LAMA3 | c.285+1G>A (n.285+1G>A) c.5112+1G>A (n.5112+1G>A) c.2004+1G>A (n.2004+1G>A) c.5139+1G>A (n.5139+1G>A) c.5130+1G>A (n.5130+1G>A) c.5121+1G>A (n.5121+1G>A) c.5007+1G>A (n.5007+1G>A) c.2991+1G>A (n.2991+1G>A) c.681+1G>A (n.681+1G>A) n.5380+1G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 18 | g.23876408G>C | CA402045097 | LAMA3 | c.285+1G>C (n.285+1G>C) c.5112+1G>C (n.5112+1G>C) c.2004+1G>C (n.2004+1G>C) c.5139+1G>C (n.5139+1G>C) c.5130+1G>C (n.5130+1G>C) c.5121+1G>C (n.5121+1G>C) c.5007+1G>C (n.5007+1G>C) c.2991+1G>C (n.2991+1G>C) c.681+1G>C (n.681+1G>C) n.5380+1G>C |