Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.129464246T>A | CA818843574 | LAMA2 | c.6993-44T>A (n.6993-44T>A) c.7257-44T>A (n.7257-44T>A) n.624-44T>A n.332-44T>A c.6990-44T>A (n.6990-44T>A) c.7251-44T>A (n.7251-44T>A) c.7263-44T>A (n.7263-44T>A) c.5388-44T>A (n.5388-44T>A) | dbSNP gnomAD v4 |
6 | g.129464246T>C | CA3994411 | LAMA2 | c.6993-44T>C (n.6993-44T>C) c.7257-44T>C (n.7257-44T>C) n.624-44T>C n.332-44T>C c.6990-44T>C (n.6990-44T>C) c.7251-44T>C (n.7251-44T>C) c.7263-44T>C (n.7263-44T>C) c.5388-44T>C (n.5388-44T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129464246T>G | CA1663191373 | LAMA2 | c.6993-44T>G (n.6993-44T>G) c.7257-44T>G (n.7257-44T>G) n.624-44T>G n.332-44T>G c.6990-44T>G (n.6990-44T>G) c.7251-44T>G (n.7251-44T>G) c.7263-44T>G (n.7263-44T>G) c.5388-44T>G (n.5388-44T>G) | dbSNP |
6 | g.129464246T= | CA1630834530 | LAMA2 | c.6993-44T= (n.6993-44T=) c.7257-44T= (n.7257-44T=) n.624-44T= n.332-44T= c.6990-44T= (n.6990-44T=) c.7251-44T= (n.7251-44T=) c.7263-44T= (n.7263-44T=) c.5388-44T= (n.5388-44T=) | |
6 | g.129464247G>A | CA3994412 | LAMA2 | c.6993-43G>A (n.6993-43G>A) c.7257-43G>A (n.7257-43G>A) n.624-43G>A n.332-43G>A c.6990-43G>A (n.6990-43G>A) c.7251-43G>A (n.7251-43G>A) c.7263-43G>A (n.7263-43G>A) c.5388-43G>A (n.5388-43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129464247G= | CA1663191375 | LAMA2 | c.6993-43G= (n.6993-43G=) c.7257-43G= (n.7257-43G=) n.624-43G= n.332-43G= c.6990-43G= (n.6990-43G=) c.7251-43G= (n.7251-43G=) c.7263-43G= (n.7263-43G=) c.5388-43G= (n.5388-43G=) | |
6 | g.129464247G>T | CA2680307356 | LAMA2 | c.6993-43G>T (n.6993-43G>T) c.7257-43G>T (n.7257-43G>T) n.624-43G>T n.332-43G>T c.6990-43G>T (n.6990-43G>T) c.7251-43G>T (n.7251-43G>T) c.7263-43G>T (n.7263-43G>T) c.5388-43G>T (n.5388-43G>T) | gnomAD v4 |
6 | g.129464248A= | CA1663191377 | LAMA2 | c.6993-42A= (n.6993-42A=) c.7257-42A= (n.7257-42A=) n.624-42A= n.332-42A= c.6990-42A= (n.6990-42A=) c.7251-42A= (n.7251-42A=) c.7263-42A= (n.7263-42A=) c.5388-42A= (n.5388-42A=) | |
6 | g.129464248A>G | CA1094392687 | LAMA2 | c.6993-42A>G (n.6993-42A>G) c.7257-42A>G (n.7257-42A>G) n.624-42A>G n.332-42A>G c.6990-42A>G (n.6990-42A>G) c.7251-42A>G (n.7251-42A>G) c.7263-42A>G (n.7263-42A>G) c.5388-42A>G (n.5388-42A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129464249A= | CA1663191378 | LAMA2 | c.6993-41A= (n.6993-41A=) c.7257-41A= (n.7257-41A=) n.624-41A= n.332-41A= c.6990-41A= (n.6990-41A=) c.7251-41A= (n.7251-41A=) c.7263-41A= (n.7263-41A=) c.5388-41A= (n.5388-41A=) | |
6 | g.129464249A>G | CA818843579 | LAMA2 | c.6993-41A>G (n.6993-41A>G) c.7257-41A>G (n.7257-41A>G) n.624-41A>G n.332-41A>G c.6990-41A>G (n.6990-41A>G) c.7251-41A>G (n.7251-41A>G) c.7263-41A>G (n.7263-41A>G) c.5388-41A>G (n.5388-41A>G) | dbSNP gnomAD v4 |
6 | g.129464250T>C | CA2578756789 | LAMA2 | c.6993-40T>C (n.6993-40T>C) c.7257-40T>C (n.7257-40T>C) n.624-40T>C n.332-40T>C c.6990-40T>C (n.6990-40T>C) c.7251-40T>C (n.7251-40T>C) c.7263-40T>C (n.7263-40T>C) c.5388-40T>C (n.5388-40T>C) | gnomAD v4 |
6 | g.129464250T>G | CA1663191381 | LAMA2 | c.6993-40T>G (n.6993-40T>G) c.7257-40T>G (n.7257-40T>G) n.624-40T>G n.332-40T>G c.6990-40T>G (n.6990-40T>G) c.7251-40T>G (n.7251-40T>G) c.7263-40T>G (n.7263-40T>G) c.5388-40T>G (n.5388-40T>G) | dbSNP |
6 | g.129464250T= | CA1663191380 | LAMA2 | c.6993-40T= (n.6993-40T=) c.7257-40T= (n.7257-40T=) n.624-40T= n.332-40T= c.6990-40T= (n.6990-40T=) c.7251-40T= (n.7251-40T=) c.7263-40T= (n.7263-40T=) c.5388-40T= (n.5388-40T=) | |
6 | g.129464252G>T | CA2680307357 | LAMA2 | c.6993-38G>T (n.6993-38G>T) c.7257-38G>T (n.7257-38G>T) n.624-38G>T n.332-38G>T c.6990-38G>T (n.6990-38G>T) c.7251-38G>T (n.7251-38G>T) c.7263-38G>T (n.7263-38G>T) c.5388-38G>T (n.5388-38G>T) | gnomAD v4 |
6 | g.129464253A= | CA1663191383 | LAMA2 | c.6993-37A= (n.6993-37A=) c.7257-37A= (n.7257-37A=) n.624-37A= n.332-37A= c.6990-37A= (n.6990-37A=) c.7251-37A= (n.7251-37A=) c.7263-37A= (n.7263-37A=) c.5388-37A= (n.5388-37A=) | |
6 | g.129464253A>C | CA1094392688 | LAMA2 | c.6993-37A>C (n.6993-37A>C) c.7257-37A>C (n.7257-37A>C) n.624-37A>C n.332-37A>C c.6990-37A>C (n.6990-37A>C) c.7251-37A>C (n.7251-37A>C) c.7263-37A>C (n.7263-37A>C) c.5388-37A>C (n.5388-37A>C) | gnomAD v3 gnomAD v4 |
6 | g.129464253A>T | CA3994413 | LAMA2 | c.6993-37A>T (n.6993-37A>T) c.7257-37A>T (n.7257-37A>T) n.624-37A>T n.332-37A>T c.6990-37A>T (n.6990-37A>T) c.7251-37A>T (n.7251-37A>T) c.7263-37A>T (n.7263-37A>T) c.5388-37A>T (n.5388-37A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129464254T>A | CA1094392690 | LAMA2 | c.6993-36T>A (n.6993-36T>A) c.7257-36T>A (n.7257-36T>A) n.624-36T>A n.332-36T>A c.6990-36T>A (n.6990-36T>A) c.7251-36T>A (n.7251-36T>A) c.7263-36T>A (n.7263-36T>A) c.5388-36T>A (n.5388-36T>A) | gnomAD v3 gnomAD v4 |
6 | g.129464254T>C | CA2680307360 | LAMA2 | c.6993-36T>C (n.6993-36T>C) c.7257-36T>C (n.7257-36T>C) n.624-36T>C n.332-36T>C c.6990-36T>C (n.6990-36T>C) c.7251-36T>C (n.7251-36T>C) c.7263-36T>C (n.7263-36T>C) c.5388-36T>C (n.5388-36T>C) | gnomAD v4 |
6 | g.129464254T>G | CA818843581 | LAMA2 | c.6993-36T>G (n.6993-36T>G) c.7257-36T>G (n.7257-36T>G) n.624-36T>G n.332-36T>G c.6990-36T>G (n.6990-36T>G) c.7251-36T>G (n.7251-36T>G) c.7263-36T>G (n.7263-36T>G) c.5388-36T>G (n.5388-36T>G) | dbSNP |
6 | g.129464254T= | CA1663191385 | LAMA2 | c.6993-36T= (n.6993-36T=) c.7257-36T= (n.7257-36T=) n.624-36T= n.332-36T= c.6990-36T= (n.6990-36T=) c.7251-36T= (n.7251-36T=) c.7263-36T= (n.7263-36T=) c.5388-36T= (n.5388-36T=) | |
6 | g.129464255A>G | CA2680307363 | LAMA2 | c.6993-35A>G (n.6993-35A>G) c.7257-35A>G (n.7257-35A>G) n.624-35A>G n.332-35A>G c.6990-35A>G (n.6990-35A>G) c.7251-35A>G (n.7251-35A>G) c.7263-35A>G (n.7263-35A>G) c.5388-35A>G (n.5388-35A>G) | gnomAD v4 |
6 | g.129464256T>C | CA1094392693 | LAMA2 | c.6993-34T>C (n.6993-34T>C) c.7257-34T>C (n.7257-34T>C) n.624-34T>C n.332-34T>C c.6990-34T>C (n.6990-34T>C) c.7251-34T>C (n.7251-34T>C) c.7263-34T>C (n.7263-34T>C) c.5388-34T>C (n.5388-34T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129464256T>G | CA2680307367 | LAMA2 | c.6993-34T>G (n.6993-34T>G) c.7257-34T>G (n.7257-34T>G) n.624-34T>G n.332-34T>G c.6990-34T>G (n.6990-34T>G) c.7251-34T>G (n.7251-34T>G) c.7263-34T>G (n.7263-34T>G) c.5388-34T>G (n.5388-34T>G) | gnomAD v4 |
6 | g.129464256T= | CA1663191387 | LAMA2 | c.6993-34T= (n.6993-34T=) c.7257-34T= (n.7257-34T=) n.624-34T= n.332-34T= c.6990-34T= (n.6990-34T=) c.7251-34T= (n.7251-34T=) c.7263-34T= (n.7263-34T=) c.5388-34T= (n.5388-34T=) | |
6 | g.129464257G>T | CA2680307368 | LAMA2 | c.6993-33G>T (n.6993-33G>T) c.7257-33G>T (n.7257-33G>T) n.624-33G>T n.332-33G>T c.6990-33G>T (n.6990-33G>T) c.7251-33G>T (n.7251-33G>T) c.7263-33G>T (n.7263-33G>T) c.5388-33G>T (n.5388-33G>T) | gnomAD v4 |
6 | g.129464258A>G | CA2680307369 | LAMA2 | c.6993-32A>G (n.6993-32A>G) c.7257-32A>G (n.7257-32A>G) n.624-32A>G n.332-32A>G c.6990-32A>G (n.6990-32A>G) c.7251-32A>G (n.7251-32A>G) c.7263-32A>G (n.7263-32A>G) c.5388-32A>G (n.5388-32A>G) | gnomAD v4 |
6 | g.129464258A>T | CA2680307371 | LAMA2 | c.6993-32A>T (n.6993-32A>T) c.7257-32A>T (n.7257-32A>T) n.624-32A>T n.332-32A>T c.6990-32A>T (n.6990-32A>T) c.7251-32A>T (n.7251-32A>T) c.7263-32A>T (n.7263-32A>T) c.5388-32A>T (n.5388-32A>T) | gnomAD v4 |
6 | g.129464259T>C | CA818843583 | LAMA2 | c.6993-31T>C (n.6993-31T>C) c.7257-31T>C (n.7257-31T>C) n.624-31T>C n.332-31T>C c.6990-31T>C (n.6990-31T>C) c.7251-31T>C (n.7251-31T>C) c.7263-31T>C (n.7263-31T>C) c.5388-31T>C (n.5388-31T>C) | dbSNP gnomAD v4 |
6 | g.129464259T= | CA1663191389 | LAMA2 | c.6993-31T= (n.6993-31T=) c.7257-31T= (n.7257-31T=) n.624-31T= n.332-31T= c.6990-31T= (n.6990-31T=) c.7251-31T= (n.7251-31T=) c.7263-31T= (n.7263-31T=) c.5388-31T= (n.5388-31T=) | |
6 | g.129464260C>A | CA2680307372 | LAMA2 | c.6993-30C>A (n.6993-30C>A) c.7257-30C>A (n.7257-30C>A) n.624-30C>A n.332-30C>A c.6990-30C>A (n.6990-30C>A) c.7251-30C>A (n.7251-30C>A) c.7263-30C>A (n.7263-30C>A) c.5388-30C>A (n.5388-30C>A) | gnomAD v4 |
6 | g.129464260C>T | CA2680307373 | LAMA2 | c.6993-30C>T (n.6993-30C>T) c.7257-30C>T (n.7257-30C>T) n.624-30C>T n.332-30C>T c.6990-30C>T (n.6990-30C>T) c.7251-30C>T (n.7251-30C>T) c.7263-30C>T (n.7263-30C>T) c.5388-30C>T (n.5388-30C>T) | gnomAD v4 |
6 | g.129464261T>C | CA1663191392 | LAMA2 | c.6993-29T>C (n.6993-29T>C) c.7257-29T>C (n.7257-29T>C) n.624-29T>C n.332-29T>C c.6990-29T>C (n.6990-29T>C) c.7251-29T>C (n.7251-29T>C) c.7263-29T>C (n.7263-29T>C) c.5388-29T>C (n.5388-29T>C) | dbSNP |
6 | g.129464261T= | CA1663191390 | LAMA2 | c.6993-29T= (n.6993-29T=) c.7257-29T= (n.7257-29T=) n.624-29T= n.332-29T= c.6990-29T= (n.6990-29T=) c.7251-29T= (n.7251-29T=) c.7263-29T= (n.7263-29T=) c.5388-29T= (n.5388-29T=) | |
6 | g.129464262G>A | CA1663191394 | LAMA2 | c.6993-28G>A (n.6993-28G>A) c.7257-28G>A (n.7257-28G>A) n.624-28G>A n.332-28G>A c.6990-28G>A (n.6990-28G>A) c.7251-28G>A (n.7251-28G>A) c.7263-28G>A (n.7263-28G>A) c.5388-28G>A (n.5388-28G>A) | dbSNP |
6 | g.129464262G= | CA1663191393 | LAMA2 | c.6993-28G= (n.6993-28G=) c.7257-28G= (n.7257-28G=) n.624-28G= n.332-28G= c.6990-28G= (n.6990-28G=) c.7251-28G= (n.7251-28G=) c.7263-28G= (n.7263-28G=) c.5388-28G= (n.5388-28G=) | |
6 | g.129464262G>T | CA2680307374 | LAMA2 | c.6993-28G>T (n.6993-28G>T) c.7257-28G>T (n.7257-28G>T) n.624-28G>T n.332-28G>T c.6990-28G>T (n.6990-28G>T) c.7251-28G>T (n.7251-28G>T) c.7263-28G>T (n.7263-28G>T) c.5388-28G>T (n.5388-28G>T) | gnomAD v4 |
6 | g.129464263A>G | CA2680307375 | LAMA2 | c.6993-27A>G (n.6993-27A>G) c.7257-27A>G (n.7257-27A>G) n.624-27A>G n.332-27A>G c.6990-27A>G (n.6990-27A>G) c.7251-27A>G (n.7251-27A>G) c.7263-27A>G (n.7263-27A>G) c.5388-27A>G (n.5388-27A>G) | gnomAD v4 |
6 | g.129464264_129464265del | CA2680307376 | LAMA2 | c.6993-26_6993-25del (n.6993-26_6993-25del) c.7257-26_7257-25del (n.7257-26_7257-25del) n.624-26_624-25del n.332-26_332-25del c.6990-26_6990-25del (n.6990-26_6990-25del) c.7251-26_7251-25del (n.7251-26_7251-25del) c.7263-26_7263-25del (n.7263-26_7263-25del) c.5388-26_5388-25del (n.5388-26_5388-25del) | gnomAD v4 |
6 | g.129464265T>C | CA2680307377 | LAMA2 | c.6993-25T>C (n.6993-25T>C) c.7257-25T>C (n.7257-25T>C) n.624-25T>C n.332-25T>C c.6990-25T>C (n.6990-25T>C) c.7251-25T>C (n.7251-25T>C) c.7263-25T>C (n.7263-25T>C) c.5388-25T>C (n.5388-25T>C) | gnomAD v4 |
6 | g.129464266C>A | CA2680307378 | LAMA2 | c.6993-24C>A (n.6993-24C>A) c.7257-24C>A (n.7257-24C>A) n.624-24C>A n.332-24C>A c.6990-24C>A (n.6990-24C>A) c.7251-24C>A (n.7251-24C>A) c.7263-24C>A (n.7263-24C>A) c.5388-24C>A (n.5388-24C>A) | gnomAD v4 |
6 | g.129464266C>T | CA2680307379 | LAMA2 | c.6993-24C>T (n.6993-24C>T) c.7257-24C>T (n.7257-24C>T) n.624-24C>T n.332-24C>T c.6990-24C>T (n.6990-24C>T) c.7251-24C>T (n.7251-24C>T) c.7263-24C>T (n.7263-24C>T) c.5388-24C>T (n.5388-24C>T) | gnomAD v4 |
6 | g.129464267A= | CA1663191395 | LAMA2 | c.6993-23A= (n.6993-23A=) c.7257-23A= (n.7257-23A=) n.624-23A= n.332-23A= c.6990-23A= (n.6990-23A=) c.7251-23A= (n.7251-23A=) c.7263-23A= (n.7263-23A=) c.5388-23A= (n.5388-23A=) | |
6 | g.129464267A>G | CA2680307380 | LAMA2 | c.6993-23A>G (n.6993-23A>G) c.7257-23A>G (n.7257-23A>G) n.624-23A>G n.332-23A>G c.6990-23A>G (n.6990-23A>G) c.7251-23A>G (n.7251-23A>G) c.7263-23A>G (n.7263-23A>G) c.5388-23A>G (n.5388-23A>G) | gnomAD v4 |
6 | g.129464267A>T | CA3994414 | LAMA2 | c.6993-23A>T (n.6993-23A>T) c.7257-23A>T (n.7257-23A>T) n.624-23A>T n.332-23A>T c.6990-23A>T (n.6990-23A>T) c.7251-23A>T (n.7251-23A>T) c.7263-23A>T (n.7263-23A>T) c.5388-23A>T (n.5388-23A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129464268T>C | CA3994415 | LAMA2 | c.6993-22T>C (n.6993-22T>C) c.7257-22T>C (n.7257-22T>C) n.624-22T>C n.332-22T>C c.6990-22T>C (n.6990-22T>C) c.7251-22T>C (n.7251-22T>C) c.7263-22T>C (n.7263-22T>C) c.5388-22T>C (n.5388-22T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129464268T= | CA1663191397 | LAMA2 | c.6993-22T= (n.6993-22T=) c.7257-22T= (n.7257-22T=) n.624-22T= n.332-22T= c.6990-22T= (n.6990-22T=) c.7251-22T= (n.7251-22T=) c.7263-22T= (n.7263-22T=) c.5388-22T= (n.5388-22T=) | |
6 | g.129464269G>A | CA818843607 | LAMA2 | c.6993-21G>A (n.6993-21G>A) c.7257-21G>A (n.7257-21G>A) n.624-21G>A n.332-21G>A c.6990-21G>A (n.6990-21G>A) c.7251-21G>A (n.7251-21G>A) c.7263-21G>A (n.7263-21G>A) c.5388-21G>A (n.5388-21G>A) | dbSNP gnomAD v4 |
6 | g.129464269G= | CA1663191399 | LAMA2 | c.6993-21G= (n.6993-21G=) c.7257-21G= (n.7257-21G=) n.624-21G= n.332-21G= c.6990-21G= (n.6990-21G=) c.7251-21G= (n.7251-21G=) c.7263-21G= (n.7263-21G=) c.5388-21G= (n.5388-21G=) | |
6 | g.129464271G>A | CA2680307384 | LAMA2 | c.6993-19G>A (n.6993-19G>A) c.7257-19G>A (n.7257-19G>A) n.624-19G>A n.332-19G>A c.6990-19G>A (n.6990-19G>A) c.7251-19G>A (n.7251-19G>A) c.7263-19G>A (n.7263-19G>A) c.5388-19G>A (n.5388-19G>A) | ClinVar gnomAD v4 |
6 | g.129464271G>T | CA2680307386 | LAMA2 | c.6993-19G>T (n.6993-19G>T) c.7257-19G>T (n.7257-19G>T) n.624-19G>T n.332-19G>T c.6990-19G>T (n.6990-19G>T) c.7251-19G>T (n.7251-19G>T) c.7263-19G>T (n.7263-19G>T) c.5388-19G>T (n.5388-19G>T) | gnomAD v4 |
6 | g.129464272A>G | CA2697553710 | LAMA2 | c.6993-18A>G (n.6993-18A>G) c.7257-18A>G (n.7257-18A>G) n.624-18A>G n.332-18A>G c.6990-18A>G (n.6990-18A>G) c.7251-18A>G (n.7251-18A>G) c.7263-18A>G (n.7263-18A>G) c.5388-18A>G (n.5388-18A>G) | ClinVar |
6 | g.129464274A>G | CA2739266119 | LAMA2 | c.6993-16A>G (n.6993-16A>G) c.7257-16A>G (n.7257-16A>G) n.624-16A>G n.332-16A>G c.6990-16A>G (n.6990-16A>G) c.7251-16A>G (n.7251-16A>G) c.7263-16A>G (n.7263-16A>G) c.5388-16A>G (n.5388-16A>G) | ClinVar |
6 | g.129464276G>A | CA2580074974 | LAMA2 | c.6993-14G>A (n.6993-14G>A) c.7257-14G>A (n.7257-14G>A) n.624-14G>A n.332-14G>A c.6990-14G>A (n.6990-14G>A) c.7251-14G>A (n.7251-14G>A) c.7263-14G>A (n.7263-14G>A) c.5388-14G>A (n.5388-14G>A) | ClinVar gnomAD v4 |
6 | g.129464276dup | CA2838223116 | LAMA2 | c.6993-14dup (n.6993-14dup) c.7257-14dup (n.7257-14dup) n.624-14dup n.332-14dup c.6990-14dup (n.6990-14dup) c.7251-14dup (n.7251-14dup) c.7263-14dup (n.7263-14dup) c.5388-14dup (n.5388-14dup) | |
6 | g.129464276_129464278delinsGTC | CA1663191400 | LAMA2 | c.6993-14_6993-12delinsGTC (n.6993-14_6993-12delinsGTC) c.7257-14_7257-12delinsGTC (n.7257-14_7257-12delinsGTC) n.624-14_624-12delinsGTC n.332-14_332-12delinsGTC c.6990-14_6990-12delinsGTC (n.6990-14_6990-12delinsGTC) c.7251-14_7251-12delinsGTC (n.7251-14_7251-12delinsGTC) c.7263-14_7263-12delinsGTC (n.7263-14_7263-12delinsGTC) c.5388-14_5388-12delinsGTC (n.5388-14_5388-12delinsGTC) | |
6 | g.129464277T>A | CA570205679 | LAMA2 | c.6993-13T>A (n.6993-13T>A) c.7257-13T>A (n.7257-13T>A) n.624-13T>A n.332-13T>A c.6990-13T>A (n.6990-13T>A) c.7251-13T>A (n.7251-13T>A) c.7263-13T>A (n.7263-13T>A) c.5388-13T>A (n.5388-13T>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129464277T= | CA1663191402 | LAMA2 | c.6993-13T= (n.6993-13T=) c.7257-13T= (n.7257-13T=) n.624-13T= n.332-13T= c.6990-13T= (n.6990-13T=) c.7251-13T= (n.7251-13T=) c.7263-13T= (n.7263-13T=) c.5388-13T= (n.5388-13T=) | |
6 | g.129464282_129464283del | CA146891251 | LAMA2 | c.6993-8_6993-7del (n.6993-8_6993-7del) c.7257-8_7257-7del (n.7257-8_7257-7del) n.624-8_624-7del n.332-8_332-7del c.6990-8_6990-7del (n.6990-8_6990-7del) c.7251-8_7251-7del (n.7251-8_7251-7del) c.7263-8_7263-7del (n.7263-8_7263-7del) c.5388-8_5388-7del (n.5388-8_5388-7del) | dbSNP gnomAD v4 |
6 | g.129464278C>A | CA2680307400 | LAMA2 | c.6993-12C>A (n.6993-12C>A) c.7257-12C>A (n.7257-12C>A) n.624-12C>A n.332-12C>A c.6990-12C>A (n.6990-12C>A) c.7251-12C>A (n.7251-12C>A) c.7263-12C>A (n.7263-12C>A) c.5388-12C>A (n.5388-12C>A) | gnomAD v4 |
6 | g.129464278C= | CA1663191406 | LAMA2 | c.6993-12C= (n.6993-12C=) c.7257-12C= (n.7257-12C=) n.624-12C= n.332-12C= c.6990-12C= (n.6990-12C=) c.7251-12C= (n.7251-12C=) c.7263-12C= (n.7263-12C=) c.5388-12C= (n.5388-12C=) | |
6 | g.129464278C>G | CA1663191405 | LAMA2 | c.6993-12C>G (n.6993-12C>G) c.7257-12C>G (n.7257-12C>G) n.624-12C>G n.332-12C>G c.6990-12C>G (n.6990-12C>G) c.7251-12C>G (n.7251-12C>G) c.7263-12C>G (n.7263-12C>G) c.5388-12C>G (n.5388-12C>G) | dbSNP |
6 | g.129464278_129464283delinsCTCTCT | CA1663191404 | LAMA2 | c.6993-12_6993-7delinsCTCTCT (n.6993-12_6993-7delinsCTCTCT) c.7257-12_7257-7delinsCTCTCT (n.7257-12_7257-7delinsCTCTCT) n.624-12_624-7delinsCTCTCT n.332-12_332-7delinsCTCTCT c.6990-12_6990-7delinsCTCTCT (n.6990-12_6990-7delinsCTCTCT) c.7251-12_7251-7delinsCTCTCT (n.7251-12_7251-7delinsCTCTCT) c.7263-12_7263-7delinsCTCTCT (n.7263-12_7263-7delinsCTCTCT) c.5388-12_5388-7delinsCTCTCT (n.5388-12_5388-7delinsCTCTCT) | |
6 | g.129464279T>G | CA2680307408 | LAMA2 | c.6993-11T>G (n.6993-11T>G) c.7257-11T>G (n.7257-11T>G) n.624-11T>G n.332-11T>G c.6990-11T>G (n.6990-11T>G) c.7251-11T>G (n.7251-11T>G) c.7263-11T>G (n.7263-11T>G) c.5388-11T>G (n.5388-11T>G) | ClinVar gnomAD v4 |
6 | g.129464283_129464287del | CA570205680 | LAMA2 | c.6993-7_6993-3del (n.6993-7_6993-3del) c.7257-7_7257-3del (n.7257-7_7257-3del) n.624-7_624-3del n.332-7_332-3del c.6990-7_6990-3del (n.6990-7_6990-3del) c.7251-7_7251-3del (n.7251-7_7251-3del) c.7263-7_7263-3del (n.7263-7_7263-3del) c.5388-7_5388-3del (n.5388-7_5388-3del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129464280C>A | CA2680307414 | LAMA2 | c.6993-10C>A (n.6993-10C>A) c.7257-10C>A (n.7257-10C>A) n.624-10C>A n.332-10C>A c.6990-10C>A (n.6990-10C>A) c.7251-10C>A (n.7251-10C>A) c.7263-10C>A (n.7263-10C>A) c.5388-10C>A (n.5388-10C>A) | gnomAD v4 |
6 | g.129464282C>A | CA2680307415 | LAMA2 | c.6993-8C>A (n.6993-8C>A) c.7257-8C>A (n.7257-8C>A) n.624-8C>A n.332-8C>A c.6990-8C>A (n.6990-8C>A) c.7251-8C>A (n.7251-8C>A) c.7263-8C>A (n.7263-8C>A) c.5388-8C>A (n.5388-8C>A) | gnomAD v4 |
6 | g.129464283_129464284del | CA2713030423 | LAMA2 | c.6993-7_6993-6del (n.6993-7_6993-6del) c.7257-7_7257-6del (n.7257-7_7257-6del) n.624-7_624-6del n.332-7_332-6del c.6990-7_6990-6del (n.6990-7_6990-6del) c.7251-7_7251-6del (n.7251-7_7251-6del) c.7263-7_7263-6del (n.7263-7_7263-6del) c.5388-7_5388-6del (n.5388-7_5388-6del) | dbSNP |
6 | g.129464284T>G | CA570205681 | LAMA2 | c.6993-6T>G (n.6993-6T>G) c.7257-6T>G (n.7257-6T>G) n.624-6T>G n.332-6T>G c.6990-6T>G (n.6990-6T>G) c.7251-6T>G (n.7251-6T>G) c.7263-6T>G (n.7263-6T>G) c.5388-6T>G (n.5388-6T>G) | dbSNP gnomAD v2 |
6 | g.129464284T= | CA1663191409 | LAMA2 | c.6993-6T= (n.6993-6T=) c.7257-6T= (n.7257-6T=) n.624-6T= n.332-6T= c.6990-6T= (n.6990-6T=) c.7251-6T= (n.7251-6T=) c.7263-6T= (n.7263-6T=) c.5388-6T= (n.5388-6T=) | |
6 | g.129464290_129464296del | CA818843626 | LAMA2 | c.6993_6999del c.7257_7263del n.624_630del n.332_338del c.6990_6996del c.7251_7257del c.7263_7269del c.5388_5394del | ClinVar gnomAD v4 |
6 | g.129464286T>C | CA1663191410 | LAMA2 | c.6993-4T>C (n.6993-4T>C) c.7257-4T>C (n.7257-4T>C) n.624-4T>C n.332-4T>C c.6990-4T>C (n.6990-4T>C) c.7251-4T>C (n.7251-4T>C) c.7263-4T>C (n.7263-4T>C) c.5388-4T>C (n.5388-4T>C) | dbSNP |
6 | g.129464286T= | CA1663191412 | LAMA2 | c.6993-4T= (n.6993-4T=) c.7257-4T= (n.7257-4T=) n.624-4T= n.332-4T= c.6990-4T= (n.6990-4T=) c.7251-4T= (n.7251-4T=) c.7263-4T= (n.7263-4T=) c.5388-4T= (n.5388-4T=) | |
6 | g.129464287C>A | CA2521332972 | LAMA2 | c.6993-3C>A (n.6993-3C>A) c.7257-3C>A (n.7257-3C>A) n.624-3C>A n.332-3C>A c.6990-3C>A (n.6990-3C>A) c.7251-3C>A (n.7251-3C>A) c.7263-3C>A (n.7263-3C>A) c.5388-3C>A (n.5388-3C>A) | |
6 | g.129464287C= | CA1663191415 | LAMA2 | c.6993-3C= (n.6993-3C=) c.7257-3C= (n.7257-3C=) n.624-3C= n.332-3C= c.6990-3C= (n.6990-3C=) c.7251-3C= (n.7251-3C=) c.7263-3C= (n.7263-3C=) c.5388-3C= (n.5388-3C=) | |
6 | g.129464287C>T | CA1663191414 | LAMA2 | c.6993-3C>T (n.6993-3C>T) c.7257-3C>T (n.7257-3C>T) n.624-3C>T n.332-3C>T c.6990-3C>T (n.6990-3C>T) c.7251-3C>T (n.7251-3C>T) c.7263-3C>T (n.7263-3C>T) c.5388-3C>T (n.5388-3C>T) | dbSNP |
6 | g.129464288A= | CA1663191417 | LAMA2 | c.6993-2A= (n.6993-2A=) c.7257-2A= (n.7257-2A=) n.624-2A= n.332-2A= c.6990-2A= (n.6990-2A=) c.7251-2A= (n.7251-2A=) c.7263-2A= (n.7263-2A=) c.5388-2A= (n.5388-2A=) | |
6 | g.129464288A>C | CA3994416 | LAMA2 | c.6993-2A>C (n.6993-2A>C) c.7257-2A>C (n.7257-2A>C) n.624-2A>C n.332-2A>C c.6990-2A>C (n.6990-2A>C) c.7251-2A>C (n.7251-2A>C) c.7263-2A>C (n.7263-2A>C) c.5388-2A>C (n.5388-2A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129464288A>G | CA365619809 | LAMA2 | c.6993-2A>G (n.6993-2A>G) c.7257-2A>G (n.7257-2A>G) n.624-2A>G n.332-2A>G c.6990-2A>G (n.6990-2A>G) c.7251-2A>G (n.7251-2A>G) c.7263-2A>G (n.7263-2A>G) c.5388-2A>G (n.5388-2A>G) | ClinVar dbSNP gnomAD v4 |
6 | g.129464288A>T | CA365619819 | LAMA2 | c.6993-2A>T (n.6993-2A>T) c.7257-2A>T (n.7257-2A>T) n.624-2A>T n.332-2A>T c.6990-2A>T (n.6990-2A>T) c.7251-2A>T (n.7251-2A>T) c.7263-2A>T (n.7263-2A>T) c.5388-2A>T (n.5388-2A>T) | |
6 | g.129464288_129464451delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT | CA1663191420 | LAMA2 | c.6993-2_7154delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.7257-2_7418delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT n.624-2_785delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT n.332-2_493delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.6990-2_7151delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.7251-2_7412delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.7263-2_7424delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT c.5388-2_5549delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT | |
6 | g.129464289G>A | CA365619823 | LAMA2 | c.6993-1G>A (n.6993-1G>A) c.7257-1G>A (n.7257-1G>A) n.624-1G>A n.332-1G>A c.6990-1G>A (n.6990-1G>A) c.7251-1G>A (n.7251-1G>A) c.7263-1G>A (n.7263-1G>A) c.5388-1G>A (n.5388-1G>A) | |
6 | g.129464289G>C | CA365619825 | LAMA2 | c.6993-1G>C (n.6993-1G>C) c.7257-1G>C (n.7257-1G>C) n.624-1G>C n.332-1G>C c.6990-1G>C (n.6990-1G>C) c.7251-1G>C (n.7251-1G>C) c.7263-1G>C (n.7263-1G>C) c.5388-1G>C (n.5388-1G>C) | |
6 | g.129464289G>T | CA365619827 | LAMA2 | c.6993-1G>T (n.6993-1G>T) c.7257-1G>T (n.7257-1G>T) n.624-1G>T n.332-1G>T c.6990-1G>T (n.6990-1G>T) c.7251-1G>T (n.7251-1G>T) c.7263-1G>T (n.7263-1G>T) c.5388-1G>T (n.5388-1G>T) | |
6 | g.129464290_129464452del | CA10588988 | LAMA2 | c.6993_7155del c.7257_7419del n.624_786del n.332_494del c.6990_7152del c.7251_7413del c.7263_7425del c.5388_5550del | ClinVar dbSNP |
6 | g.129464290T>A | CA365619831 | LAMA2 | c.6993T>A (p.Ser2331Arg) c.7257T>A (p.Ser2419Arg) n.624T>A n.332T>A c.6990T>A (p.Ser2330Arg) c.7251T>A (p.Ser2417Arg) c.7263T>A (p.Ser2421Arg) c.5388T>A (p.Ser1796Arg) | |
6 | g.129464290T>C | CA451925551 | LAMA2 | c.6993T>C (p.Ser2331=) c.7257T>C (p.Ser2419=) n.624T>C n.332T>C c.6990T>C (p.Ser2330=) c.7251T>C (p.Ser2417=) c.7263T>C (p.Ser2421=) c.5388T>C (p.Ser1796=) | |
6 | g.129464290T>G | CA365619832 | LAMA2 | c.6993T>G (p.Ser2331Arg) c.7257T>G (p.Ser2419Arg) n.624T>G n.332T>G c.6990T>G (p.Ser2330Arg) c.7251T>G (p.Ser2417Arg) c.7263T>G (p.Ser2421Arg) c.5388T>G (p.Ser1796Arg) | |
6 | g.129464292_129464294del | CA2680307427 | LAMA2 | c.6995_6997del (p.Pro2332del) c.7259_7261del (p.Pro2420del) n.626_628del n.334_336del c.6992_6994del (p.Pro2331del) c.7253_7255del (p.Pro2418del) c.7265_7267del (p.Pro2422del) c.5390_5392del (p.Pro1797del) | gnomAD v4 |
6 | g.129464291C>A | CA365619833 | LAMA2 | c.6994C>A (p.Pro2332Thr) c.7258C>A (p.Pro2420Thr) n.625C>A n.333C>A c.6991C>A (p.Pro2331Thr) c.7252C>A (p.Pro2418Thr) c.7264C>A (p.Pro2422Thr) c.5389C>A (p.Pro1797Thr) | gnomAD v4 |
6 | g.129464291C>G | CA365619835 | LAMA2 | c.6994C>G (p.Pro2332Ala) c.7258C>G (p.Pro2420Ala) n.625C>G n.333C>G c.6991C>G (p.Pro2331Ala) c.7252C>G (p.Pro2418Ala) c.7264C>G (p.Pro2422Ala) c.5389C>G (p.Pro1797Ala) | |
6 | g.129464291C>T | CA365619837 | LAMA2 | c.6994C>T (p.Pro2332Ser) c.7258C>T (p.Pro2420Ser) n.625C>T n.333C>T c.6991C>T (p.Pro2331Ser) c.7252C>T (p.Pro2418Ser) c.7264C>T (p.Pro2422Ser) c.5389C>T (p.Pro1797Ser) | |
6 | g.129464292del | CA2695206951 | LAMA2 | c.6995del (p.Pro2332LeufsTer?) c.7259del (p.Pro2420LeufsTer?) n.626del n.334del c.6992del (p.Pro2331LeufsTer?) c.7253del (p.Pro2418LeufsTer?) c.7265del (p.Pro2422LeufsTer?) c.5390del (p.Pro1797LeufsTer?) | |
6 | g.129464292C>A | CA365619843 | LAMA2 | c.6995C>A (p.Pro2332His) c.7259C>A (p.Pro2420His) n.626C>A n.334C>A c.6992C>A (p.Pro2331His) c.7253C>A (p.Pro2418His) c.7265C>A (p.Pro2422His) c.5390C>A (p.Pro1797His) | |
6 | g.129464292C= | CA1663191428 | LAMA2 | c.6995C= (p.Pro2332=) c.7259C= (p.Pro2420=) n.626C= n.334C= c.6992C= (p.Pro2331=) c.7253C= (p.Pro2418=) c.7265C= (p.Pro2422=) c.5390C= (p.Pro1797=) | |
6 | g.129464292C>G | CA365619839 | LAMA2 | c.6995C>G (p.Pro2332Arg) c.7259C>G (p.Pro2420Arg) n.626C>G n.334C>G c.6992C>G (p.Pro2331Arg) c.7253C>G (p.Pro2418Arg) c.7265C>G (p.Pro2422Arg) c.5390C>G (p.Pro1797Arg) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129464292C>T | CA365619840 | LAMA2 | c.6995C>T (p.Pro2332Leu) c.7259C>T (p.Pro2420Leu) n.626C>T n.334C>T c.6992C>T (p.Pro2331Leu) c.7253C>T (p.Pro2418Leu) c.7265C>T (p.Pro2422Leu) c.5390C>T (p.Pro1797Leu) | dbSNP gnomAD v4 |
6 | g.129464293T>A | CA3994417 | LAMA2 | c.6996T>A (p.Pro2332=) c.7260T>A (p.Pro2420=) n.627T>A n.335T>A c.6993T>A (p.Pro2331=) c.7254T>A (p.Pro2418=) c.7266T>A (p.Pro2422=) c.5391T>A (p.Pro1797=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129464293T>C | CA451925570 | LAMA2 | c.6996T>C (p.Pro2332=) c.7260T>C (p.Pro2420=) n.627T>C n.335T>C c.6993T>C (p.Pro2331=) c.7254T>C (p.Pro2418=) c.7266T>C (p.Pro2422=) c.5391T>C (p.Pro1797=) | |
6 | g.129464293T>G | CA451925571 | LAMA2 | c.6996T>G (p.Pro2332=) c.7260T>G (p.Pro2420=) n.627T>G n.335T>G c.6993T>G (p.Pro2331=) c.7254T>G (p.Pro2418=) c.7266T>G (p.Pro2422=) c.5391T>G (p.Pro1797=) | |
6 | g.129464293T= | CA1663191431 | LAMA2 | c.6996T= (p.Pro2332=) c.7260T= (p.Pro2420=) n.627T= n.335T= c.6993T= (p.Pro2331=) c.7254T= (p.Pro2418=) c.7266T= (p.Pro2422=) c.5391T= (p.Pro1797=) | |
6 | g.129464294C>A | CA365619847 | LAMA2 | c.6997C>A (p.Gln2333Lys) c.7261C>A (p.Gln2421Lys) n.628C>A n.336C>A c.6994C>A (p.Gln2332Lys) c.7255C>A (p.Gln2419Lys) c.7267C>A (p.Gln2423Lys) c.5392C>A (p.Gln1798Lys) | |
6 | g.129464294C= | CA1663191435 | LAMA2 | c.6997C= (p.Gln2333=) c.7261C= (p.Gln2421=) n.628C= n.336C= c.6994C= (p.Gln2332=) c.7255C= (p.Gln2419=) c.7267C= (p.Gln2423=) c.5392C= (p.Gln1798=) | |
6 | g.129464294C>G | CA3994418 | LAMA2 | c.6997C>G (p.Gln2333Glu) c.7261C>G (p.Gln2421Glu) n.628C>G n.336C>G c.6994C>G (p.Gln2332Glu) c.7255C>G (p.Gln2419Glu) c.7267C>G (p.Gln2423Glu) c.5392C>G (p.Gln1798Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129464294C>T | CA365619850 | LAMA2 | c.6997C>T (p.Gln2333Ter) c.7261C>T (p.Gln2421Ter) n.628C>T n.336C>T c.6994C>T (p.Gln2332Ter) c.7255C>T (p.Gln2419Ter) c.7267C>T (p.Gln2423Ter) c.5392C>T (p.Gln1798Ter) | |
6 | g.129464295A= | CA1663191437 | LAMA2 | c.6998A= (p.Gln2333=) c.7262A= (p.Gln2421=) n.629A= n.337A= c.6995A= (p.Gln2332=) c.7256A= (p.Gln2419=) c.7268A= (p.Gln2423=) c.5393A= (p.Gln1798=) | |
6 | g.129464295A>C | CA365619852 | LAMA2 | c.6998A>C (p.Gln2333Pro) c.7262A>C (p.Gln2421Pro) n.629A>C n.337A>C c.6995A>C (p.Gln2332Pro) c.7256A>C (p.Gln2419Pro) c.7268A>C (p.Gln2423Pro) c.5393A>C (p.Gln1798Pro) | |
6 | g.129464295A>G | CA146891258 | LAMA2 | c.6998A>G (p.Gln2333Arg) c.7262A>G (p.Gln2421Arg) n.629A>G n.337A>G c.6995A>G (p.Gln2332Arg) c.7256A>G (p.Gln2419Arg) c.7268A>G (p.Gln2423Arg) c.5393A>G (p.Gln1798Arg) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129464295A>T | CA365619855 | LAMA2 | c.6998A>T (p.Gln2333Leu) c.7262A>T (p.Gln2421Leu) n.629A>T n.337A>T c.6995A>T (p.Gln2332Leu) c.7256A>T (p.Gln2419Leu) c.7268A>T (p.Gln2423Leu) c.5393A>T (p.Gln1798Leu) | |
6 | g.129464296G>A | CA451925578 | LAMA2 | c.6999G>A (p.Gln2333=) c.7263G>A (p.Gln2421=) n.630G>A n.338G>A c.6996G>A (p.Gln2332=) c.7257G>A (p.Gln2419=) c.7269G>A (p.Gln2423=) c.5394G>A (p.Gln1798=) | ClinVar dbSNP |
6 | g.129464296G>C | CA365619859 | LAMA2 | c.6999G>C (p.Gln2333His) c.7263G>C (p.Gln2421His) n.630G>C n.338G>C c.6996G>C (p.Gln2332His) c.7257G>C (p.Gln2419His) c.7269G>C (p.Gln2423His) c.5394G>C (p.Gln1798His) | |
6 | g.129464296G= | CA1663191441 | LAMA2 | c.6999G= (p.Gln2333=) c.7263G= (p.Gln2421=) n.630G= n.338G= c.6996G= (p.Gln2332=) c.7257G= (p.Gln2419=) c.7269G= (p.Gln2423=) c.5394G= (p.Gln1798=) | |
6 | g.129464296G>T | CA365619861 | LAMA2 | c.6999G>T (p.Gln2333His) c.7263G>T (p.Gln2421His) n.630G>T n.338G>T c.6996G>T (p.Gln2332His) c.7257G>T (p.Gln2419His) c.7269G>T (p.Gln2423His) c.5394G>T (p.Gln1798His) | |
6 | g.129464297G>A | CA365619863 | LAMA2 | c.7000G>A (p.Val2334Met) c.7264G>A (p.Val2422Met) n.631G>A n.339G>A c.6997G>A (p.Val2333Met) c.7258G>A (p.Val2420Met) c.7270G>A (p.Val2424Met) c.5395G>A (p.Val1799Met) | gnomAD v4 |
6 | g.129464297G>C | CA365619865 | LAMA2 | c.7000G>C (p.Val2334Leu) c.7264G>C (p.Val2422Leu) n.631G>C n.339G>C c.6997G>C (p.Val2333Leu) c.7258G>C (p.Val2420Leu) c.7270G>C (p.Val2424Leu) c.5395G>C (p.Val1799Leu) | |
6 | g.129464297G>T | CA365619868 | LAMA2 | c.7000G>T (p.Val2334Leu) c.7264G>T (p.Val2422Leu) n.631G>T n.339G>T c.6997G>T (p.Val2333Leu) c.7258G>T (p.Val2420Leu) c.7270G>T (p.Val2424Leu) c.5395G>T (p.Val1799Leu) | |
6 | g.129464298T>A | CA365619873 | LAMA2 | c.7001T>A (p.Val2334Glu) c.7265T>A (p.Val2422Glu) n.632T>A n.340T>A c.6998T>A (p.Val2333Glu) c.7259T>A (p.Val2420Glu) c.7271T>A (p.Val2424Glu) c.5396T>A (p.Val1799Glu) | |
6 | g.129464298T>C | CA365619874 | LAMA2 | c.7001T>C (p.Val2334Ala) c.7265T>C (p.Val2422Ala) n.632T>C n.340T>C c.6998T>C (p.Val2333Ala) c.7259T>C (p.Val2420Ala) c.7271T>C (p.Val2424Ala) c.5396T>C (p.Val1799Ala) | |
6 | g.129464298T>G | CA365619870 | LAMA2 | c.7001T>G (p.Val2334Gly) c.7265T>G (p.Val2422Gly) n.632T>G n.340T>G c.6998T>G (p.Val2333Gly) c.7259T>G (p.Val2420Gly) c.7271T>G (p.Val2424Gly) c.5396T>G (p.Val1799Gly) | |
6 | g.129464299G>A | CA451925592 | LAMA2 | c.7002G>A (p.Val2334=) c.7266G>A (p.Val2422=) n.633G>A n.341G>A c.6999G>A (p.Val2333=) c.7260G>A (p.Val2420=) c.7272G>A (p.Val2424=) c.5397G>A (p.Val1799=) | ClinVar |
6 | g.129464299G>C | CA451925595 | LAMA2 | c.7002G>C (p.Val2334=) c.7266G>C (p.Val2422=) n.633G>C n.341G>C c.6999G>C (p.Val2333=) c.7260G>C (p.Val2420=) c.7272G>C (p.Val2424=) c.5397G>C (p.Val1799=) | |
6 | g.129464299G>T | CA451925599 | LAMA2 | c.7002G>T (p.Val2334=) c.7266G>T (p.Val2422=) n.633G>T n.341G>T c.6999G>T (p.Val2333=) c.7260G>T (p.Val2420=) c.7272G>T (p.Val2424=) c.5397G>T (p.Val1799=) | |
6 | g.129464300del | CA2695198335 | LAMA2 | c.7003del (p.Glu2335LysfsTer?) c.7267del (p.Glu2423LysfsTer?) n.634del n.342del c.7000del (p.Glu2334LysfsTer?) c.7261del (p.Glu2421LysfsTer?) c.7273del (p.Glu2425LysfsTer?) c.5398del (p.Glu1800LysfsTer?) | ClinVar |
6 | g.129464300G>A | CA146891259 | LAMA2 | c.7003G>A (p.Glu2335Lys) c.7267G>A (p.Glu2423Lys) n.634G>A n.342G>A c.7000G>A (p.Glu2334Lys) c.7261G>A (p.Glu2421Lys) c.7273G>A (p.Glu2425Lys) c.5398G>A (p.Glu1800Lys) | dbSNP COSMIC |
6 | g.129464300G>C | CA365619876 | LAMA2 | c.7003G>C (p.Glu2335Gln) c.7267G>C (p.Glu2423Gln) n.634G>C n.342G>C c.7000G>C (p.Glu2334Gln) c.7261G>C (p.Glu2421Gln) c.7273G>C (p.Glu2425Gln) c.5398G>C (p.Glu1800Gln) | |
6 | g.129464300G= | CA1663191442 | LAMA2 | c.7003G= (p.Glu2335=) c.7267G= (p.Glu2423=) n.634G= n.342G= c.7000G= (p.Glu2334=) c.7261G= (p.Glu2421=) c.7273G= (p.Glu2425=) c.5398G= (p.Glu1800=) | |
6 | g.129464300G>T | CA365619879 | LAMA2 | c.7003G>T (p.Glu2335Ter) c.7267G>T (p.Glu2423Ter) n.634G>T n.342G>T c.7000G>T (p.Glu2334Ter) c.7261G>T (p.Glu2421Ter) c.7273G>T (p.Glu2425Ter) c.5398G>T (p.Glu1800Ter) | |
6 | g.129464301A>C | CA365619881 | LAMA2 | c.7004A>C (p.Glu2335Ala) c.7268A>C (p.Glu2423Ala) n.635A>C n.343A>C c.7001A>C (p.Glu2334Ala) c.7262A>C (p.Glu2421Ala) c.7274A>C (p.Glu2425Ala) c.5399A>C (p.Glu1800Ala) | |
6 | g.129464301A>G | CA365619883 | LAMA2 | c.7004A>G (p.Glu2335Gly) c.7268A>G (p.Glu2423Gly) n.635A>G n.343A>G c.7001A>G (p.Glu2334Gly) c.7262A>G (p.Glu2421Gly) c.7274A>G (p.Glu2425Gly) c.5399A>G (p.Glu1800Gly) | |
6 | g.129464301A>T | CA365619885 | LAMA2 | c.7004A>T (p.Glu2335Val) c.7268A>T (p.Glu2423Val) n.635A>T n.343A>T c.7001A>T (p.Glu2334Val) c.7262A>T (p.Glu2421Val) c.7274A>T (p.Glu2425Val) c.5399A>T (p.Glu1800Val) | |
6 | g.129464302A>C | CA365619888 | LAMA2 | c.7005A>C (p.Glu2335Asp) c.7269A>C (p.Glu2423Asp) n.636A>C n.344A>C c.7002A>C (p.Glu2334Asp) c.7263A>C (p.Glu2421Asp) c.7275A>C (p.Glu2425Asp) c.5400A>C (p.Glu1800Asp) | |
6 | g.129464302A>G | CA451925614 | LAMA2 | c.7005A>G (p.Glu2335=) c.7269A>G (p.Glu2423=) n.636A>G n.344A>G c.7002A>G (p.Glu2334=) c.7263A>G (p.Glu2421=) c.7275A>G (p.Glu2425=) c.5400A>G (p.Glu1800=) | ClinVar gnomAD v4 |
6 | g.129464302A>T | CA365619890 | LAMA2 | c.7005A>T (p.Glu2335Asp) c.7269A>T (p.Glu2423Asp) n.636A>T n.344A>T c.7002A>T (p.Glu2334Asp) c.7263A>T (p.Glu2421Asp) c.7275A>T (p.Glu2425Asp) c.5400A>T (p.Glu1800Asp) | |
6 | g.129464303G>A | CA365619892 | LAMA2 | c.7006G>A (p.Asp2336Asn) c.7270G>A (p.Asp2424Asn) n.637G>A n.345G>A c.7003G>A (p.Asp2335Asn) c.7264G>A (p.Asp2422Asn) c.7276G>A (p.Asp2426Asn) c.5401G>A (p.Asp1801Asn) | |
6 | g.129464303G>C | CA365619895 | LAMA2 | c.7006G>C (p.Asp2336His) c.7270G>C (p.Asp2424His) n.637G>C n.345G>C c.7003G>C (p.Asp2335His) c.7264G>C (p.Asp2422His) c.7276G>C (p.Asp2426His) c.5401G>C (p.Asp1801His) | |
6 | g.129464303G>T | CA365619897 | LAMA2 | c.7006G>T (p.Asp2336Tyr) c.7270G>T (p.Asp2424Tyr) n.637G>T n.345G>T c.7003G>T (p.Asp2335Tyr) c.7264G>T (p.Asp2422Tyr) c.7276G>T (p.Asp2426Tyr) c.5401G>T (p.Asp1801Tyr) | COSMIC |
6 | g.129464304A>C | CA365619899 | LAMA2 | c.7007A>C (p.Asp2336Ala) c.7271A>C (p.Asp2424Ala) n.638A>C n.346A>C c.7004A>C (p.Asp2335Ala) c.7265A>C (p.Asp2422Ala) c.7277A>C (p.Asp2426Ala) c.5402A>C (p.Asp1801Ala) | |
6 | g.129464304A>G | CA365619902 | LAMA2 | c.7007A>G (p.Asp2336Gly) c.7271A>G (p.Asp2424Gly) n.638A>G n.346A>G c.7004A>G (p.Asp2335Gly) c.7265A>G (p.Asp2422Gly) c.7277A>G (p.Asp2426Gly) c.5402A>G (p.Asp1801Gly) | |
6 | g.129464304A>T | CA365619906 | LAMA2 | c.7007A>T (p.Asp2336Val) c.7271A>T (p.Asp2424Val) n.638A>T n.346A>T c.7004A>T (p.Asp2335Val) c.7265A>T (p.Asp2422Val) c.7277A>T (p.Asp2426Val) c.5402A>T (p.Asp1801Val) | |
6 | g.129464305T>A | CA365619911 | LAMA2 | c.7008T>A (p.Asp2336Glu) c.7272T>A (p.Asp2424Glu) n.639T>A n.347T>A c.7005T>A (p.Asp2335Glu) c.7266T>A (p.Asp2422Glu) c.7278T>A (p.Asp2426Glu) c.5403T>A (p.Asp1801Glu) | |
6 | g.129464305T>C | CA3994419 | LAMA2 | c.7008T>C (p.Asp2336=) c.7272T>C (p.Asp2424=) n.639T>C n.347T>C c.7005T>C (p.Asp2335=) c.7266T>C (p.Asp2422=) c.7278T>C (p.Asp2426=) c.5403T>C (p.Asp1801=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129464305T>G | CA365619915 | LAMA2 | c.7008T>G (p.Asp2336Glu) c.7272T>G (p.Asp2424Glu) n.639T>G n.347T>G c.7005T>G (p.Asp2335Glu) c.7266T>G (p.Asp2422Glu) c.7278T>G (p.Asp2426Glu) c.5403T>G (p.Asp1801Glu) | |
6 | g.129464305T= | CA1663191445 | LAMA2 | c.7008T= (p.Asp2336=) c.7272T= (p.Asp2424=) n.639T= n.347T= c.7005T= (p.Asp2335=) c.7266T= (p.Asp2422=) c.7278T= (p.Asp2426=) c.5403T= (p.Asp1801=) | |
6 | g.129464306A>C | CA365619920 | LAMA2 | c.7009A>C (p.Ser2337Arg) c.7273A>C (p.Ser2425Arg) n.640A>C n.348A>C c.7006A>C (p.Ser2336Arg) c.7267A>C (p.Ser2423Arg) c.7279A>C (p.Ser2427Arg) c.5404A>C (p.Ser1802Arg) | |
6 | g.129464306A>G | CA365619929 | LAMA2 | c.7009A>G (p.Ser2337Gly) c.7273A>G (p.Ser2425Gly) n.640A>G n.348A>G c.7006A>G (p.Ser2336Gly) c.7267A>G (p.Ser2423Gly) c.7279A>G (p.Ser2427Gly) c.5404A>G (p.Ser1802Gly) | gnomAD v4 |
6 | g.129464306A>T | CA365619932 | LAMA2 | c.7009A>T (p.Ser2337Cys) c.7273A>T (p.Ser2425Cys) n.640A>T n.348A>T c.7006A>T (p.Ser2336Cys) c.7267A>T (p.Ser2423Cys) c.7279A>T (p.Ser2427Cys) c.5404A>T (p.Ser1802Cys) | |
6 | g.129464307G>A | CA365619935 | LAMA2 | c.7010G>A (p.Ser2337Asn) c.7274G>A (p.Ser2425Asn) n.641G>A n.349G>A c.7007G>A (p.Ser2336Asn) c.7268G>A (p.Ser2423Asn) c.7280G>A (p.Ser2427Asn) c.5405G>A (p.Ser1802Asn) | dbSNP |
6 | g.129464307G>C | CA365619938 | LAMA2 | c.7010G>C (p.Ser2337Thr) c.7274G>C (p.Ser2425Thr) n.641G>C n.349G>C c.7007G>C (p.Ser2336Thr) c.7268G>C (p.Ser2423Thr) c.7280G>C (p.Ser2427Thr) c.5405G>C (p.Ser1802Thr) | |
6 | g.129464307G= | CA1663191449 | LAMA2 | c.7010G= (p.Ser2337=) c.7274G= (p.Ser2425=) n.641G= n.349G= c.7007G= (p.Ser2336=) c.7268G= (p.Ser2423=) c.7280G= (p.Ser2427=) c.5405G= (p.Ser1802=) | |
6 | g.129464307G>T | CA365619941 | LAMA2 | c.7010G>T (p.Ser2337Ile) c.7274G>T (p.Ser2425Ile) n.641G>T n.349G>T c.7007G>T (p.Ser2336Ile) c.7268G>T (p.Ser2423Ile) c.7280G>T (p.Ser2427Ile) c.5405G>T (p.Ser1802Ile) | |
6 | g.129464308T>A | CA365619943 | LAMA2 | c.7011T>A (p.Ser2337Arg) c.7275T>A (p.Ser2425Arg) n.642T>A n.350T>A c.7008T>A (p.Ser2336Arg) c.7269T>A (p.Ser2423Arg) c.7281T>A (p.Ser2427Arg) c.5406T>A (p.Ser1802Arg) | |
6 | g.129464308T>C | CA451925642 | LAMA2 | c.7011T>C (p.Ser2337=) c.7275T>C (p.Ser2425=) n.642T>C n.350T>C c.7008T>C (p.Ser2336=) c.7269T>C (p.Ser2423=) c.7281T>C (p.Ser2427=) c.5406T>C (p.Ser1802=) | |
6 | g.129464308T>G | CA365619944 | LAMA2 | c.7011T>G (p.Ser2337Arg) c.7275T>G (p.Ser2425Arg) n.642T>G n.350T>G c.7008T>G (p.Ser2336Arg) c.7269T>G (p.Ser2423Arg) c.7281T>G (p.Ser2427Arg) c.5406T>G (p.Ser1802Arg) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129464308T= | CA1663191451 | LAMA2 | c.7011T= (p.Ser2337=) c.7275T= (p.Ser2425=) n.642T= n.350T= c.7008T= (p.Ser2336=) c.7269T= (p.Ser2423=) c.7281T= (p.Ser2427=) c.5406T= (p.Ser1802=) | |
6 | g.129464309G>A | CA3994420 | LAMA2 | c.7012G>A (p.Glu2338Lys) c.7276G>A (p.Glu2426Lys) n.643G>A n.351G>A c.7009G>A (p.Glu2337Lys) c.7270G>A (p.Glu2424Lys) c.7282G>A (p.Glu2428Lys) c.5407G>A (p.Glu1803Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129464309G>C | CA365619945 | LAMA2 | c.7012G>C (p.Glu2338Gln) c.7276G>C (p.Glu2426Gln) n.643G>C n.351G>C c.7009G>C (p.Glu2337Gln) c.7270G>C (p.Glu2424Gln) c.7282G>C (p.Glu2428Gln) c.5407G>C (p.Glu1803Gln) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129464309G= | CA1663191453 | LAMA2 | c.7012G= (p.Glu2338=) c.7276G= (p.Glu2426=) n.643G= n.351G= c.7009G= (p.Glu2337=) c.7270G= (p.Glu2424=) c.7282G= (p.Glu2428=) c.5407G= (p.Glu1803=) | |
6 | g.129464309G>T | CA365619947 | LAMA2 | c.7012G>T (p.Glu2338Ter) c.7276G>T (p.Glu2426Ter) n.643G>T n.351G>T c.7009G>T (p.Glu2337Ter) c.7270G>T (p.Glu2424Ter) c.7282G>T (p.Glu2428Ter) c.5407G>T (p.Glu1803Ter) | |
6 | g.129464310A>C | CA365619952 | LAMA2 | c.7013A>C (p.Glu2338Ala) c.7277A>C (p.Glu2426Ala) n.644A>C n.352A>C c.7010A>C (p.Glu2337Ala) c.7271A>C (p.Glu2424Ala) c.7283A>C (p.Glu2428Ala) c.5408A>C (p.Glu1803Ala) | |
6 | g.129464310A>G | CA365619953 | LAMA2 | c.7013A>G (p.Glu2338Gly) c.7277A>G (p.Glu2426Gly) n.644A>G n.352A>G c.7010A>G (p.Glu2337Gly) c.7271A>G (p.Glu2424Gly) c.7283A>G (p.Glu2428Gly) c.5408A>G (p.Glu1803Gly) | gnomAD v4 |
6 | g.129464310A>T | CA365619949 | LAMA2 | c.7013A>T (p.Glu2338Val) c.7277A>T (p.Glu2426Val) n.644A>T n.352A>T c.7010A>T (p.Glu2337Val) c.7271A>T (p.Glu2424Val) c.7283A>T (p.Glu2428Val) c.5408A>T (p.Glu1803Val) | |
6 | g.129464311G>A | CA451925661 | LAMA2 | c.7014G>A (p.Glu2338=) c.7278G>A (p.Glu2426=) n.645G>A n.353G>A c.7011G>A (p.Glu2337=) c.7272G>A (p.Glu2424=) c.7284G>A (p.Glu2428=) c.5409G>A (p.Glu1803=) | gnomAD v4 |
6 | g.129464311G>C | CA365619957 | LAMA2 | c.7014G>C (p.Glu2338Asp) c.7278G>C (p.Glu2426Asp) n.645G>C n.353G>C c.7011G>C (p.Glu2337Asp) c.7272G>C (p.Glu2424Asp) c.7284G>C (p.Glu2428Asp) c.5409G>C (p.Glu1803Asp) | gnomAD v4 |
6 | g.129464311G>T | CA365619959 | LAMA2 | c.7014G>T (p.Glu2338Asp) c.7278G>T (p.Glu2426Asp) n.645G>T n.353G>T c.7011G>T (p.Glu2337Asp) c.7272G>T (p.Glu2424Asp) c.7284G>T (p.Glu2428Asp) c.5409G>T (p.Glu1803Asp) | |
6 | g.129464312G>A | CA365619961 | LAMA2 | c.7015G>A (p.Gly2339Arg) c.7279G>A (p.Gly2427Arg) n.646G>A n.354G>A c.7012G>A (p.Gly2338Arg) c.7273G>A (p.Gly2425Arg) c.7285G>A (p.Gly2429Arg) c.5410G>A (p.Gly1804Arg) | |
6 | g.129464312G>C | CA365619964 | LAMA2 | c.7015G>C (p.Gly2339Arg) c.7279G>C (p.Gly2427Arg) n.646G>C n.354G>C c.7012G>C (p.Gly2338Arg) c.7273G>C (p.Gly2425Arg) c.7285G>C (p.Gly2429Arg) c.5410G>C (p.Gly1804Arg) | |
6 | g.129464312G>T | CA365619966 | LAMA2 | c.7015G>T (p.Gly2339Trp) c.7279G>T (p.Gly2427Trp) n.646G>T n.354G>T c.7012G>T (p.Gly2338Trp) c.7273G>T (p.Gly2425Trp) c.7285G>T (p.Gly2429Trp) c.5410G>T (p.Gly1804Trp) | COSMIC |
6 | g.129464313G>A | CA3994421 | LAMA2 | c.7016G>A (p.Gly2339Glu) c.7280G>A (p.Gly2427Glu) n.647G>A n.355G>A c.7013G>A (p.Gly2338Glu) c.7274G>A (p.Gly2425Glu) c.7286G>A (p.Gly2429Glu) c.5411G>A (p.Gly1804Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129464313G>C | CA365619983 | LAMA2 | c.7016G>C (p.Gly2339Ala) c.7280G>C (p.Gly2427Ala) n.647G>C n.355G>C c.7013G>C (p.Gly2338Ala) c.7274G>C (p.Gly2425Ala) c.7286G>C (p.Gly2429Ala) c.5411G>C (p.Gly1804Ala) | |
6 | g.129464313G= | CA1663191456 | LAMA2 | c.7016G= (p.Gly2339=) c.7280G= (p.Gly2427=) n.647G= n.355G= c.7013G= (p.Gly2338=) c.7274G= (p.Gly2425=) c.7286G= (p.Gly2429=) c.5411G= (p.Gly1804=) | |
6 | g.129464313G>T | CA365619982 | LAMA2 | c.7016G>T (p.Gly2339Val) c.7280G>T (p.Gly2427Val) n.647G>T n.355G>T c.7013G>T (p.Gly2338Val) c.7274G>T (p.Gly2425Val) c.7286G>T (p.Gly2429Val) c.5411G>T (p.Gly1804Val) | |
6 | g.129464314G>A | CA451925673 | LAMA2 | c.7017G>A (p.Gly2339=) c.7281G>A (p.Gly2427=) n.648G>A n.356G>A c.7014G>A (p.Gly2338=) c.7275G>A (p.Gly2425=) c.7287G>A (p.Gly2429=) c.5412G>A (p.Gly1804=) | |
6 | g.129464314G>C | CA451925670 | LAMA2 | c.7017G>C (p.Gly2339=) c.7281G>C (p.Gly2427=) n.648G>C n.356G>C c.7014G>C (p.Gly2338=) c.7275G>C (p.Gly2425=) c.7287G>C (p.Gly2429=) c.5412G>C (p.Gly1804=) | |
6 | g.129464314G>T | CA451925672 | LAMA2 | c.7017G>T (p.Gly2339=) c.7281G>T (p.Gly2427=) n.648G>T n.356G>T c.7014G>T (p.Gly2338=) c.7275G>T (p.Gly2425=) c.7287G>T (p.Gly2429=) c.5412G>T (p.Gly1804=) | gnomAD v4 COSMIC |
6 | g.129464315A>C | CA365619989 | LAMA2 | c.7018A>C (p.Thr2340Pro) c.7282A>C (p.Thr2428Pro) n.649A>C n.357A>C c.7015A>C (p.Thr2339Pro) c.7276A>C (p.Thr2426Pro) c.7288A>C (p.Thr2430Pro) c.5413A>C (p.Thr1805Pro) | |
6 | g.129464315A>G | CA365619992 | LAMA2 | c.7018A>G (p.Thr2340Ala) c.7282A>G (p.Thr2428Ala) n.649A>G n.357A>G c.7015A>G (p.Thr2339Ala) c.7276A>G (p.Thr2426Ala) c.7288A>G (p.Thr2430Ala) c.5413A>G (p.Thr1805Ala) | |
6 | g.129464315A>T | CA365619995 | LAMA2 | c.7018A>T (p.Thr2340Ser) c.7282A>T (p.Thr2428Ser) n.649A>T n.357A>T c.7015A>T (p.Thr2339Ser) c.7276A>T (p.Thr2426Ser) c.7288A>T (p.Thr2430Ser) c.5413A>T (p.Thr1805Ser) | |
6 | g.129464316C>A | CA365619999 | LAMA2 | c.7019C>A (p.Thr2340Asn) c.7283C>A (p.Thr2428Asn) n.650C>A n.358C>A c.7016C>A (p.Thr2339Asn) c.7277C>A (p.Thr2426Asn) c.7289C>A (p.Thr2430Asn) c.5414C>A (p.Thr1805Asn) | |
6 | g.129464316C>G | CA365620003 | LAMA2 | c.7019C>G (p.Thr2340Ser) c.7283C>G (p.Thr2428Ser) n.650C>G n.358C>G c.7016C>G (p.Thr2339Ser) c.7277C>G (p.Thr2426Ser) c.7289C>G (p.Thr2430Ser) c.5414C>G (p.Thr1805Ser) | |
6 | g.129464316C>T | CA365620006 | LAMA2 | c.7019C>T (p.Thr2340Ile) c.7283C>T (p.Thr2428Ile) n.650C>T n.358C>T c.7016C>T (p.Thr2339Ile) c.7277C>T (p.Thr2426Ile) c.7289C>T (p.Thr2430Ile) c.5414C>T (p.Thr1805Ile) | |
6 | g.129464317T>A | CA451925681 | LAMA2 | c.7020T>A (p.Thr2340=) c.7284T>A (p.Thr2428=) n.651T>A n.359T>A c.7017T>A (p.Thr2339=) c.7278T>A (p.Thr2426=) c.7290T>A (p.Thr2430=) c.5415T>A (p.Thr1805=) | COSMIC |
6 | g.129464317T>C | CA451925683 | LAMA2 | c.7020T>C (p.Thr2340=) c.7284T>C (p.Thr2428=) n.651T>C n.359T>C c.7017T>C (p.Thr2339=) c.7278T>C (p.Thr2426=) c.7290T>C (p.Thr2430=) c.5415T>C (p.Thr1805=) | |
6 | g.129464317T>G | CA451925680 | LAMA2 | c.7020T>G (p.Thr2340=) c.7284T>G (p.Thr2428=) n.651T>G n.359T>G c.7017T>G (p.Thr2339=) c.7278T>G (p.Thr2426=) c.7290T>G (p.Thr2430=) c.5415T>G (p.Thr1805=) | |
6 | g.129464318A>C | CA365620009 | LAMA2 | c.7021A>C (p.Ile2341Leu) c.7285A>C (p.Ile2429Leu) n.652A>C n.360A>C c.7018A>C (p.Ile2340Leu) c.7279A>C (p.Ile2427Leu) c.7291A>C (p.Ile2431Leu) c.5416A>C (p.Ile1806Leu) | |
6 | g.129464318A>G | CA365620016 | LAMA2 | c.7021A>G (p.Ile2341Val) c.7285A>G (p.Ile2429Val) n.652A>G n.360A>G c.7018A>G (p.Ile2340Val) c.7279A>G (p.Ile2427Val) c.7291A>G (p.Ile2431Val) c.5416A>G (p.Ile1806Val) | dbSNP |
6 | g.129464318A>T | CA365620012 | LAMA2 | c.7021A>T (p.Ile2341Phe) c.7285A>T (p.Ile2429Phe) n.652A>T n.360A>T c.7018A>T (p.Ile2340Phe) c.7279A>T (p.Ile2427Phe) c.7291A>T (p.Ile2431Phe) c.5416A>T (p.Ile1806Phe) | |
6 | g.129464319T>A | CA365620020 | LAMA2 | c.7022T>A (p.Ile2341Asn) c.7286T>A (p.Ile2429Asn) n.653T>A n.361T>A c.7019T>A (p.Ile2340Asn) c.7280T>A (p.Ile2427Asn) c.7292T>A (p.Ile2431Asn) c.5417T>A (p.Ile1806Asn) | |
6 | g.129464319T>C | CA365620021 | LAMA2 | c.7022T>C (p.Ile2341Thr) c.7286T>C (p.Ile2429Thr) n.653T>C n.361T>C c.7019T>C (p.Ile2340Thr) c.7280T>C (p.Ile2427Thr) c.7292T>C (p.Ile2431Thr) c.5417T>C (p.Ile1806Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.129464319T>G | CA365620023 | LAMA2 | c.7022T>G (p.Ile2341Ser) c.7286T>G (p.Ile2429Ser) n.653T>G n.361T>G c.7019T>G (p.Ile2340Ser) c.7280T>G (p.Ile2427Ser) c.7292T>G (p.Ile2431Ser) c.5417T>G (p.Ile1806Ser) | |
6 | g.129464319T= | CA1663191459 | LAMA2 | c.7022T= (p.Ile2341=) c.7286T= (p.Ile2429=) n.653T= n.361T= c.7019T= (p.Ile2340=) c.7280T= (p.Ile2427=) c.7292T= (p.Ile2431=) c.5417T= (p.Ile1806=) | |
6 | g.129464320T>A | CA451925700 | LAMA2 | c.7023T>A (p.Ile2341=) c.7287T>A (p.Ile2429=) n.654T>A n.362T>A c.7020T>A (p.Ile2340=) c.7281T>A (p.Ile2427=) c.7293T>A (p.Ile2431=) c.5418T>A (p.Ile1806=) | ClinVar dbSNP |
6 | g.129464320T>C | CA451925696 | LAMA2 | c.7023T>C (p.Ile2341=) c.7287T>C (p.Ile2429=) n.654T>C n.362T>C c.7020T>C (p.Ile2340=) c.7281T>C (p.Ile2427=) c.7293T>C (p.Ile2431=) c.5418T>C (p.Ile1806=) | |
6 | g.129464320T>G | CA365620027 | LAMA2 | c.7023T>G (p.Ile2341Met) c.7287T>G (p.Ile2429Met) n.654T>G n.362T>G c.7020T>G (p.Ile2340Met) c.7281T>G (p.Ile2427Met) c.7293T>G (p.Ile2431Met) c.5418T>G (p.Ile1806Met) | |
6 | g.129464320T= | CA1663191462 | LAMA2 | c.7023T= (p.Ile2341=) c.7287T= (p.Ile2429=) n.654T= n.362T= c.7020T= (p.Ile2340=) c.7281T= (p.Ile2427=) c.7293T= (p.Ile2431=) c.5418T= (p.Ile1806=) | |
6 | g.129464321C>A | CA365620030 | LAMA2 | c.7024C>A (p.Gln2342Lys) c.7288C>A (p.Gln2430Lys) n.655C>A n.363C>A c.7021C>A (p.Gln2341Lys) c.7282C>A (p.Gln2428Lys) c.7294C>A (p.Gln2432Lys) c.5419C>A (p.Gln1807Lys) | |
6 | g.129464321C= | CA1663191467 | LAMA2 | c.7024C= (p.Gln2342=) c.7288C= (p.Gln2430=) n.655C= n.363C= c.7021C= (p.Gln2341=) c.7282C= (p.Gln2428=) c.7294C= (p.Gln2432=) c.5419C= (p.Gln1807=) | |
6 | g.129464321C>G | CA365620033 | LAMA2 | c.7024C>G (p.Gln2342Glu) c.7288C>G (p.Gln2430Glu) n.655C>G n.363C>G c.7021C>G (p.Gln2341Glu) c.7282C>G (p.Gln2428Glu) c.7294C>G (p.Gln2432Glu) c.5419C>G (p.Gln1807Glu) | |
6 | g.129464321C>T | CA365620036 | LAMA2 | c.7024C>T (p.Gln2342Ter) c.7288C>T (p.Gln2430Ter) n.655C>T n.363C>T c.7021C>T (p.Gln2341Ter) c.7282C>T (p.Gln2428Ter) c.7294C>T (p.Gln2432Ter) c.5419C>T (p.Gln1807Ter) | ClinVar dbSNP |
6 | g.129464322A>C | CA365620040 | LAMA2 | c.7025A>C (p.Gln2342Pro) c.7289A>C (p.Gln2430Pro) n.656A>C n.364A>C c.7022A>C (p.Gln2341Pro) c.7283A>C (p.Gln2428Pro) c.7295A>C (p.Gln2432Pro) c.5420A>C (p.Gln1807Pro) | |
6 | g.129464322A>G | CA365620043 | LAMA2 | c.7025A>G (p.Gln2342Arg) c.7289A>G (p.Gln2430Arg) n.656A>G n.364A>G c.7022A>G (p.Gln2341Arg) c.7283A>G (p.Gln2428Arg) c.7295A>G (p.Gln2432Arg) c.5420A>G (p.Gln1807Arg) | gnomAD v4 |
6 | g.129464322A>T | CA365620047 | LAMA2 | c.7025A>T (p.Gln2342Leu) c.7289A>T (p.Gln2430Leu) n.656A>T n.364A>T c.7022A>T (p.Gln2341Leu) c.7283A>T (p.Gln2428Leu) c.7295A>T (p.Gln2432Leu) c.5420A>T (p.Gln1807Leu) | |
6 | g.129464323A= | CA1663191471 | LAMA2 | c.7026A= (p.Gln2342=) c.7290A= (p.Gln2430=) n.657A= n.365A= c.7023A= (p.Gln2341=) c.7284A= (p.Gln2428=) c.7296A= (p.Gln2432=) c.5421A= (p.Gln1807=) | |
6 | g.129464323A>C | CA365620050 | LAMA2 | c.7026A>C (p.Gln2342His) c.7290A>C (p.Gln2430His) n.657A>C n.365A>C c.7023A>C (p.Gln2341His) c.7284A>C (p.Gln2428His) c.7296A>C (p.Gln2432His) c.5421A>C (p.Gln1807His) | gnomAD v4 |
6 | g.129464323A>G | CA3994422 | LAMA2 | c.7026A>G (p.Gln2342=) c.7290A>G (p.Gln2430=) n.657A>G n.365A>G c.7023A>G (p.Gln2341=) c.7284A>G (p.Gln2428=) c.7296A>G (p.Gln2432=) c.5421A>G (p.Gln1807=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129464323A>T | CA365620054 | LAMA2 | c.7026A>T (p.Gln2342His) c.7290A>T (p.Gln2430His) n.657A>T n.365A>T c.7023A>T (p.Gln2341His) c.7284A>T (p.Gln2428His) c.7296A>T (p.Gln2432His) c.5421A>T (p.Gln1807His) | dbSNP gnomAD v4 |
6 | g.129464324T>A | CA365620059 | LAMA2 | c.7027T>A (p.Phe2343Ile) c.7291T>A (p.Phe2431Ile) n.658T>A n.366T>A c.7024T>A (p.Phe2342Ile) c.7285T>A (p.Phe2429Ile) c.7297T>A (p.Phe2433Ile) c.5422T>A (p.Phe1808Ile) | |
6 | g.129464324T>C | CA365620063 | LAMA2 | c.7027T>C (p.Phe2343Leu) c.7291T>C (p.Phe2431Leu) n.658T>C n.366T>C c.7024T>C (p.Phe2342Leu) c.7285T>C (p.Phe2429Leu) c.7297T>C (p.Phe2433Leu) c.5422T>C (p.Phe1808Leu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.129464324T>G | CA365620057 | LAMA2 | c.7027T>G (p.Phe2343Val) c.7291T>G (p.Phe2431Val) n.658T>G n.366T>G c.7024T>G (p.Phe2342Val) c.7285T>G (p.Phe2429Val) c.7297T>G (p.Phe2433Val) c.5422T>G (p.Phe1808Val) | |
6 | g.129464324T= | CA1663191474 | LAMA2 | c.7027T= (p.Phe2343=) c.7291T= (p.Phe2431=) n.658T= n.366T= c.7024T= (p.Phe2342=) c.7285T= (p.Phe2429=) c.7297T= (p.Phe2433=) c.5422T= (p.Phe1808=) | |
6 | g.129464325T>A | CA365620070 | LAMA2 | c.7028T>A (p.Phe2343Tyr) c.7292T>A (p.Phe2431Tyr) n.659T>A n.367T>A c.7025T>A (p.Phe2342Tyr) c.7286T>A (p.Phe2429Tyr) c.7298T>A (p.Phe2433Tyr) c.5423T>A (p.Phe1808Tyr) | |
6 | g.129464325T>C | CA365620066 | LAMA2 | c.7028T>C (p.Phe2343Ser) c.7292T>C (p.Phe2431Ser) n.659T>C n.367T>C c.7025T>C (p.Phe2342Ser) c.7286T>C (p.Phe2429Ser) c.7298T>C (p.Phe2433Ser) c.5423T>C (p.Phe1808Ser) | dbSNP |
6 | g.129464325T>G | CA365620072 | LAMA2 | c.7028T>G (p.Phe2343Cys) c.7292T>G (p.Phe2431Cys) n.659T>G n.367T>G c.7025T>G (p.Phe2342Cys) c.7286T>G (p.Phe2429Cys) c.7298T>G (p.Phe2433Cys) c.5423T>G (p.Phe1808Cys) | |
6 | g.129464326T>A | CA365620077 | LAMA2 | c.7029T>A (p.Phe2343Leu) c.7293T>A (p.Phe2431Leu) n.660T>A n.368T>A c.7026T>A (p.Phe2342Leu) c.7287T>A (p.Phe2429Leu) c.7299T>A (p.Phe2433Leu) c.5424T>A (p.Phe1808Leu) | |
6 | g.129464326T>C | CA451925716 | LAMA2 | c.7029T>C (p.Phe2343=) c.7293T>C (p.Phe2431=) n.660T>C n.368T>C c.7026T>C (p.Phe2342=) c.7287T>C (p.Phe2429=) c.7299T>C (p.Phe2433=) c.5424T>C (p.Phe1808=) | |
6 | g.129464326T>G | CA365620080 | LAMA2 | c.7029T>G (p.Phe2343Leu) c.7293T>G (p.Phe2431Leu) n.660T>G n.368T>G c.7026T>G (p.Phe2342Leu) c.7287T>G (p.Phe2429Leu) c.7299T>G (p.Phe2433Leu) c.5424T>G (p.Phe1808Leu) | |
6 | g.129464327G>A | CA365620084 | LAMA2 | c.7030G>A (p.Asp2344Asn) c.7294G>A (p.Asp2432Asn) n.661G>A n.369G>A c.7027G>A (p.Asp2343Asn) c.7288G>A (p.Asp2430Asn) c.7300G>A (p.Asp2434Asn) c.5425G>A (p.Asp1809Asn) | |
6 | g.129464327G>C | CA365620086 | LAMA2 | c.7030G>C (p.Asp2344His) c.7294G>C (p.Asp2432His) n.661G>C n.369G>C c.7027G>C (p.Asp2343His) c.7288G>C (p.Asp2430His) c.7300G>C (p.Asp2434His) c.5425G>C (p.Asp1809His) | |
6 | g.129464327G= | CA1663191479 | LAMA2 | c.7030G= (p.Asp2344=) c.7294G= (p.Asp2432=) n.661G= n.369G= c.7027G= (p.Asp2343=) c.7288G= (p.Asp2430=) c.7300G= (p.Asp2434=) c.5425G= (p.Asp1809=) | |
6 | g.129464327G>T | CA3994423 | LAMA2 | c.7030G>T (p.Asp2344Tyr) c.7294G>T (p.Asp2432Tyr) n.661G>T n.369G>T c.7027G>T (p.Asp2343Tyr) c.7288G>T (p.Asp2430Tyr) c.7300G>T (p.Asp2434Tyr) c.5425G>T (p.Asp1809Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129464328A>C | CA365620092 | LAMA2 | c.7031A>C (p.Asp2344Ala) c.7295A>C (p.Asp2432Ala) n.662A>C n.370A>C c.7028A>C (p.Asp2343Ala) c.7289A>C (p.Asp2430Ala) c.7301A>C (p.Asp2434Ala) c.5426A>C (p.Asp1809Ala) | |
6 | g.129464328A>G | CA365620095 | LAMA2 | c.7031A>G (p.Asp2344Gly) c.7295A>G (p.Asp2432Gly) n.662A>G n.370A>G c.7028A>G (p.Asp2343Gly) c.7289A>G (p.Asp2430Gly) c.7301A>G (p.Asp2434Gly) c.5426A>G (p.Asp1809Gly) | |
6 | g.129464328A>T | CA365620097 | LAMA2 | c.7031A>T (p.Asp2344Val) c.7295A>T (p.Asp2432Val) n.662A>T n.370A>T c.7028A>T (p.Asp2343Val) c.7289A>T (p.Asp2430Val) c.7301A>T (p.Asp2434Val) c.5426A>T (p.Asp1809Val) | gnomAD v4 |
6 | g.129464329T>A | CA365620100 | LAMA2 | c.7032T>A (p.Asp2344Glu) c.7296T>A (p.Asp2432Glu) n.663T>A n.371T>A c.7029T>A (p.Asp2343Glu) c.7290T>A (p.Asp2430Glu) c.7302T>A (p.Asp2434Glu) c.5427T>A (p.Asp1809Glu) | |
6 | g.129464329T>C | CA451925729 | LAMA2 | c.7032T>C (p.Asp2344=) c.7296T>C (p.Asp2432=) n.663T>C n.371T>C c.7029T>C (p.Asp2343=) c.7290T>C (p.Asp2430=) c.7302T>C (p.Asp2434=) c.5427T>C (p.Asp1809=) | |
6 | g.129464329T>G | CA365620102 | LAMA2 | c.7032T>G (p.Asp2344Glu) c.7296T>G (p.Asp2432Glu) n.663T>G n.371T>G c.7029T>G (p.Asp2343Glu) c.7290T>G (p.Asp2430Glu) c.7302T>G (p.Asp2434Glu) c.5427T>G (p.Asp1809Glu) | |
6 | g.129464330G>A | CA365620106 | LAMA2 | c.7033G>A (p.Gly2345Arg) c.7297G>A (p.Gly2433Arg) n.664G>A n.372G>A c.7030G>A (p.Gly2344Arg) c.7291G>A (p.Gly2431Arg) c.7303G>A (p.Gly2435Arg) c.5428G>A (p.Gly1810Arg) | |
6 | g.129464330G>C | CA365620109 | LAMA2 | c.7033G>C (p.Gly2345Arg) c.7297G>C (p.Gly2433Arg) n.664G>C n.372G>C c.7030G>C (p.Gly2344Arg) c.7291G>C (p.Gly2431Arg) c.7303G>C (p.Gly2435Arg) c.5428G>C (p.Gly1810Arg) | |
6 | g.129464330G>T | CA365620111 | LAMA2 | c.7033G>T (p.Gly2345Ter) c.7297G>T (p.Gly2433Ter) n.664G>T n.372G>T c.7030G>T (p.Gly2344Ter) c.7291G>T (p.Gly2431Ter) c.7303G>T (p.Gly2435Ter) c.5428G>T (p.Gly1810Ter) | |
6 | g.129464331G>A | CA365620118 | LAMA2 | c.7034G>A (p.Gly2345Glu) c.7298G>A (p.Gly2433Glu) n.665G>A n.373G>A c.7031G>A (p.Gly2344Glu) c.7292G>A (p.Gly2431Glu) c.7304G>A (p.Gly2435Glu) c.5429G>A (p.Gly1810Glu) | |
6 | g.129464331G>C | CA365620116 | LAMA2 | c.7034G>C (p.Gly2345Ala) c.7298G>C (p.Gly2433Ala) n.665G>C n.373G>C c.7031G>C (p.Gly2344Ala) c.7292G>C (p.Gly2431Ala) c.7304G>C (p.Gly2435Ala) c.5429G>C (p.Gly1810Ala) | gnomAD v4 |
6 | g.129464331G>T | CA365620113 | LAMA2 | c.7034G>T (p.Gly2345Val) c.7298G>T (p.Gly2433Val) n.665G>T n.373G>T c.7031G>T (p.Gly2344Val) c.7292G>T (p.Gly2431Val) c.7304G>T (p.Gly2435Val) c.5429G>T (p.Gly1810Val) | |
6 | g.129464332A>C | CA451925745 | LAMA2 | c.7035A>C (p.Gly2345=) c.7299A>C (p.Gly2433=) n.666A>C n.374A>C c.7032A>C (p.Gly2344=) c.7293A>C (p.Gly2431=) c.7305A>C (p.Gly2435=) c.5430A>C (p.Gly1810=) | |
6 | g.129464332A>G | CA451925751 | LAMA2 | c.7035A>G (p.Gly2345=) c.7299A>G (p.Gly2433=) n.666A>G n.374A>G c.7032A>G (p.Gly2344=) c.7293A>G (p.Gly2431=) c.7305A>G (p.Gly2435=) c.5430A>G (p.Gly1810=) | ClinVar gnomAD v4 |
6 | g.129464332A>T | CA451925753 | LAMA2 | c.7035A>T (p.Gly2345=) c.7299A>T (p.Gly2433=) n.666A>T n.374A>T c.7032A>T (p.Gly2344=) c.7293A>T (p.Gly2431=) c.7305A>T (p.Gly2435=) c.5430A>T (p.Gly1810=) | |
6 | g.129464333G>A | CA365620122 | LAMA2 | c.7036G>A (p.Glu2346Lys) c.7300G>A (p.Glu2434Lys) n.667G>A n.375G>A c.7033G>A (p.Glu2345Lys) c.7294G>A (p.Glu2432Lys) c.7306G>A (p.Glu2436Lys) c.5431G>A (p.Glu1811Lys) | gnomAD v4 |
6 | g.129464333G>C | CA365620126 | LAMA2 | c.7036G>C (p.Glu2346Gln) c.7300G>C (p.Glu2434Gln) n.667G>C n.375G>C c.7033G>C (p.Glu2345Gln) c.7294G>C (p.Glu2432Gln) c.7306G>C (p.Glu2436Gln) c.5431G>C (p.Glu1811Gln) | |
6 | g.129464333G>T | CA365620127 | LAMA2 | c.7036G>T (p.Glu2346Ter) c.7300G>T (p.Glu2434Ter) n.667G>T n.375G>T c.7033G>T (p.Glu2345Ter) c.7294G>T (p.Glu2432Ter) c.7306G>T (p.Glu2436Ter) c.5431G>T (p.Glu1811Ter) | |
6 | g.129464334A>C | CA365620131 | LAMA2 | c.7037A>C (p.Glu2346Ala) c.7301A>C (p.Glu2434Ala) n.668A>C n.376A>C c.7034A>C (p.Glu2345Ala) c.7295A>C (p.Glu2432Ala) c.7307A>C (p.Glu2436Ala) c.5432A>C (p.Glu1811Ala) | |
6 | g.129464334A>G | CA365620135 | LAMA2 | c.7037A>G (p.Glu2346Gly) c.7301A>G (p.Glu2434Gly) n.668A>G n.376A>G c.7034A>G (p.Glu2345Gly) c.7295A>G (p.Glu2432Gly) c.7307A>G (p.Glu2436Gly) c.5432A>G (p.Glu1811Gly) | |
6 | g.129464334A>T | CA365620136 | LAMA2 | c.7037A>T (p.Glu2346Val) c.7301A>T (p.Glu2434Val) n.668A>T n.376A>T c.7034A>T (p.Glu2345Val) c.7295A>T (p.Glu2432Val) c.7307A>T (p.Glu2436Val) c.5432A>T (p.Glu1811Val) | |
6 | g.129464335A>C | CA365620137 | LAMA2 | c.7038A>C (p.Glu2346Asp) c.7302A>C (p.Glu2434Asp) n.669A>C n.377A>C c.7035A>C (p.Glu2345Asp) c.7296A>C (p.Glu2432Asp) c.7308A>C (p.Glu2436Asp) c.5433A>C (p.Glu1811Asp) | |
6 | g.129464335A>G | CA451925776 | LAMA2 | c.7038A>G (p.Glu2346=) c.7302A>G (p.Glu2434=) n.669A>G n.377A>G c.7035A>G (p.Glu2345=) c.7296A>G (p.Glu2432=) c.7308A>G (p.Glu2436=) c.5433A>G (p.Glu1811=) | |
6 | g.129464335A>T | CA365620138 | LAMA2 | c.7038A>T (p.Glu2346Asp) c.7302A>T (p.Glu2434Asp) n.669A>T n.377A>T c.7035A>T (p.Glu2345Asp) c.7296A>T (p.Glu2432Asp) c.7308A>T (p.Glu2436Asp) c.5433A>T (p.Glu1811Asp) | |
6 | g.129464336G>A | CA365620139 | LAMA2 | c.7039G>A (p.Gly2347Ser) c.7303G>A (p.Gly2435Ser) n.670G>A n.378G>A c.7036G>A (p.Gly2346Ser) c.7297G>A (p.Gly2433Ser) c.7309G>A (p.Gly2437Ser) c.5434G>A (p.Gly1812Ser) | |
6 | g.129464336G>C | CA365620141 | LAMA2 | c.7039G>C (p.Gly2347Arg) c.7303G>C (p.Gly2435Arg) n.670G>C n.378G>C c.7036G>C (p.Gly2346Arg) c.7297G>C (p.Gly2433Arg) c.7309G>C (p.Gly2437Arg) c.5434G>C (p.Gly1812Arg) | |
6 | g.129464336G>T | CA365620144 | LAMA2 | c.7039G>T (p.Gly2347Cys) c.7303G>T (p.Gly2435Cys) n.670G>T n.378G>T c.7036G>T (p.Gly2346Cys) c.7297G>T (p.Gly2433Cys) c.7309G>T (p.Gly2437Cys) c.5434G>T (p.Gly1812Cys) | |
6 | g.129464337G>A | CA146891283 | LAMA2 | c.7040G>A (p.Gly2347Asp) c.7304G>A (p.Gly2435Asp) n.671G>A n.379G>A c.7037G>A (p.Gly2346Asp) c.7298G>A (p.Gly2433Asp) c.7310G>A (p.Gly2437Asp) c.5435G>A (p.Gly1812Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129464337G>C | CA365620154 | LAMA2 | c.7040G>C (p.Gly2347Ala) c.7304G>C (p.Gly2435Ala) n.671G>C n.379G>C c.7037G>C (p.Gly2346Ala) c.7298G>C (p.Gly2433Ala) c.7310G>C (p.Gly2437Ala) c.5435G>C (p.Gly1812Ala) | |
6 | g.129464337G= | CA1663191485 | LAMA2 | c.7040G= (p.Gly2347=) c.7304G= (p.Gly2435=) n.671G= n.379G= c.7037G= (p.Gly2346=) c.7298G= (p.Gly2433=) c.7310G= (p.Gly2437=) c.5435G= (p.Gly1812=) | |
6 | g.129464337G>T | CA3994424 | LAMA2 | c.7040G>T (p.Gly2347Val) c.7304G>T (p.Gly2435Val) n.671G>T n.379G>T c.7037G>T (p.Gly2346Val) c.7298G>T (p.Gly2433Val) c.7310G>T (p.Gly2437Val) c.5435G>T (p.Gly1812Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129464338T>A | CA451925793 | LAMA2 | c.7041T>A (p.Gly2347=) c.7305T>A (p.Gly2435=) n.672T>A n.380T>A c.7038T>A (p.Gly2346=) c.7299T>A (p.Gly2433=) c.7311T>A (p.Gly2437=) c.5436T>A (p.Gly1812=) | |
6 | g.129464338T>C | CA451925794 | LAMA2 | c.7041T>C (p.Gly2347=) c.7305T>C (p.Gly2435=) n.672T>C n.380T>C c.7038T>C (p.Gly2346=) c.7299T>C (p.Gly2433=) c.7311T>C (p.Gly2437=) c.5436T>C (p.Gly1812=) | ClinVar dbSNP |
6 | g.129464338T>G | CA451925792 | LAMA2 | c.7041T>G (p.Gly2347=) c.7305T>G (p.Gly2435=) n.672T>G n.380T>G c.7038T>G (p.Gly2346=) c.7299T>G (p.Gly2433=) c.7311T>G (p.Gly2437=) c.5436T>G (p.Gly1812=) | |
6 | g.129464339dup | CA2680307464 | LAMA2 | c.7042dup (p.Tyr2348LeufsTer?) c.7306dup (p.Tyr2436LeufsTer?) n.673dup n.381dup c.7039dup (p.Tyr2347LeufsTer?) c.7300dup (p.Tyr2434LeufsTer?) c.7312dup (p.Tyr2438LeufsTer?) c.5437dup (p.Tyr1813LeufsTer?) | ClinVar gnomAD v4 |
6 | g.129464339T>A | CA365620161 | LAMA2 | c.7042T>A (p.Tyr2348Asn) c.7306T>A (p.Tyr2436Asn) n.673T>A n.381T>A c.7039T>A (p.Tyr2347Asn) c.7300T>A (p.Tyr2434Asn) c.7312T>A (p.Tyr2438Asn) c.5437T>A (p.Tyr1813Asn) | |
6 | g.129464339T>C | CA365620163 | LAMA2 | c.7042T>C (p.Tyr2348His) c.7306T>C (p.Tyr2436His) n.673T>C n.381T>C c.7039T>C (p.Tyr2347His) c.7300T>C (p.Tyr2434His) c.7312T>C (p.Tyr2438His) c.5437T>C (p.Tyr1813His) | |
6 | g.129464339T>G | CA365620170 | LAMA2 | c.7042T>G (p.Tyr2348Asp) c.7306T>G (p.Tyr2436Asp) n.673T>G n.381T>G c.7039T>G (p.Tyr2347Asp) c.7300T>G (p.Tyr2434Asp) c.7312T>G (p.Tyr2438Asp) c.5437T>G (p.Tyr1813Asp) | |
6 | g.129464340A>C | CA365620178 | LAMA2 | c.7043A>C (p.Tyr2348Ser) c.7307A>C (p.Tyr2436Ser) n.674A>C n.382A>C c.7040A>C (p.Tyr2347Ser) c.7301A>C (p.Tyr2434Ser) c.7313A>C (p.Tyr2438Ser) c.5438A>C (p.Tyr1813Ser) | |
6 | g.129464340A>G | CA365620181 | LAMA2 | c.7043A>G (p.Tyr2348Cys) c.7307A>G (p.Tyr2436Cys) n.674A>G n.382A>G c.7040A>G (p.Tyr2347Cys) c.7301A>G (p.Tyr2434Cys) c.7313A>G (p.Tyr2438Cys) c.5438A>G (p.Tyr1813Cys) | |
6 | g.129464340A>T | CA365620196 | LAMA2 | c.7043A>T (p.Tyr2348Phe) c.7307A>T (p.Tyr2436Phe) n.674A>T n.382A>T c.7040A>T (p.Tyr2347Phe) c.7301A>T (p.Tyr2434Phe) c.7313A>T (p.Tyr2438Phe) c.5438A>T (p.Tyr1813Phe) | |
6 | g.129464341T>A | CA365620198 | LAMA2 | c.7044T>A (p.Tyr2348Ter) c.7308T>A (p.Tyr2436Ter) n.675T>A n.383T>A c.7041T>A (p.Tyr2347Ter) c.7302T>A (p.Tyr2434Ter) c.7314T>A (p.Tyr2438Ter) c.5439T>A (p.Tyr1813Ter) | |
6 | g.129464341T>C | CA451925808 | LAMA2 | c.7044T>C (p.Tyr2348=) c.7308T>C (p.Tyr2436=) n.675T>C n.383T>C c.7041T>C (p.Tyr2347=) c.7302T>C (p.Tyr2434=) c.7314T>C (p.Tyr2438=) c.5439T>C (p.Tyr1813=) | |
6 | g.129464341T>G | CA146891295 | LAMA2 | c.7044T>G (p.Tyr2348Ter) c.7308T>G (p.Tyr2436Ter) n.675T>G n.383T>G c.7041T>G (p.Tyr2347Ter) c.7302T>G (p.Tyr2434Ter) c.7314T>G (p.Tyr2438Ter) c.5439T>G (p.Tyr1813Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129464341T= | CA1663191493 | LAMA2 | c.7044T= (p.Tyr2348=) c.7308T= (p.Tyr2436=) n.675T= n.383T= c.7041T= (p.Tyr2347=) c.7302T= (p.Tyr2434=) c.7314T= (p.Tyr2438=) c.5439T= (p.Tyr1813=) | |
6 | g.129464342G>A | CA365620228 | LAMA2 | c.7045G>A (p.Ala2349Thr) c.7309G>A (p.Ala2437Thr) n.676G>A n.384G>A c.7042G>A (p.Ala2348Thr) c.7303G>A (p.Ala2435Thr) c.7315G>A (p.Ala2439Thr) c.5440G>A (p.Ala1814Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.129464342G>C | CA365620232 | LAMA2 | c.7045G>C (p.Ala2349Pro) c.7309G>C (p.Ala2437Pro) n.676G>C n.384G>C c.7042G>C (p.Ala2348Pro) c.7303G>C (p.Ala2435Pro) c.7315G>C (p.Ala2439Pro) c.5440G>C (p.Ala1814Pro) | |
6 | g.129464342G= | CA1663191499 | LAMA2 | c.7045G= (p.Ala2349=) c.7309G= (p.Ala2437=) n.676G= n.384G= c.7042G= (p.Ala2348=) c.7303G= (p.Ala2435=) c.7315G= (p.Ala2439=) c.5440G= (p.Ala1814=) | |
6 | g.129464342G>T | CA365620238 | LAMA2 | c.7045G>T (p.Ala2349Ser) c.7309G>T (p.Ala2437Ser) n.676G>T n.384G>T c.7042G>T (p.Ala2348Ser) c.7303G>T (p.Ala2435Ser) c.7315G>T (p.Ala2439Ser) c.5440G>T (p.Ala1814Ser) | |
6 | g.129464343C>A | CA365620245 | LAMA2 | c.7046C>A (p.Ala2349Glu) c.7310C>A (p.Ala2437Glu) n.677C>A n.385C>A c.7043C>A (p.Ala2348Glu) c.7304C>A (p.Ala2435Glu) c.7316C>A (p.Ala2439Glu) c.5441C>A (p.Ala1814Glu) | |
6 | g.129464343C>G | CA365620244 | LAMA2 | c.7046C>G (p.Ala2349Gly) c.7310C>G (p.Ala2437Gly) n.677C>G n.385C>G c.7043C>G (p.Ala2348Gly) c.7304C>G (p.Ala2435Gly) c.7316C>G (p.Ala2439Gly) c.5441C>G (p.Ala1814Gly) | |
6 | g.129464343C>T | CA365620242 | LAMA2 | c.7046C>T (p.Ala2349Val) c.7310C>T (p.Ala2437Val) n.677C>T n.385C>T c.7043C>T (p.Ala2348Val) c.7304C>T (p.Ala2435Val) c.7316C>T (p.Ala2439Val) c.5441C>T (p.Ala1814Val) | |
6 | g.129464344A= | CA1663191505 | LAMA2 | c.7047A= (p.Ala2349=) c.7311A= (p.Ala2437=) n.678A= n.386A= c.7044A= (p.Ala2348=) c.7305A= (p.Ala2435=) c.7317A= (p.Ala2439=) c.5442A= (p.Ala1814=) | |
6 | g.129464344A>C | CA451925829 | LAMA2 | c.7047A>C (p.Ala2349=) c.7311A>C (p.Ala2437=) n.678A>C n.386A>C c.7044A>C (p.Ala2348=) c.7305A>C (p.Ala2435=) c.7317A>C (p.Ala2439=) c.5442A>C (p.Ala1814=) | |
6 | g.129464344A>G | CA451925825 | LAMA2 | c.7047A>G (p.Ala2349=) c.7311A>G (p.Ala2437=) n.678A>G n.386A>G c.7044A>G (p.Ala2348=) c.7305A>G (p.Ala2435=) c.7317A>G (p.Ala2439=) c.5442A>G (p.Ala1814=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.129464344A>T | CA451925823 | LAMA2 | c.7047A>T (p.Ala2349=) c.7311A>T (p.Ala2437=) n.678A>T n.386A>T c.7044A>T (p.Ala2348=) c.7305A>T (p.Ala2435=) c.7317A>T (p.Ala2439=) c.5442A>T (p.Ala1814=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129464345T>A | CA365620246 | LAMA2 | c.7048T>A (p.Leu2350Met) c.7312T>A (p.Leu2438Met) n.679T>A n.387T>A c.7045T>A (p.Leu2349Met) c.7306T>A (p.Leu2436Met) c.7318T>A (p.Leu2440Met) c.5443T>A (p.Leu1815Met) | |
6 | g.129464345T>C | CA451925833 | LAMA2 | c.7048T>C (p.Leu2350=) c.7312T>C (p.Leu2438=) n.679T>C n.387T>C c.7045T>C (p.Leu2349=) c.7306T>C (p.Leu2436=) c.7318T>C (p.Leu2440=) c.5443T>C (p.Leu1815=) | dbSNP |
6 | g.129464345T>G | CA365620247 | LAMA2 | c.7048T>G (p.Leu2350Val) c.7312T>G (p.Leu2438Val) n.679T>G n.387T>G c.7045T>G (p.Leu2349Val) c.7306T>G (p.Leu2436Val) c.7318T>G (p.Leu2440Val) c.5443T>G (p.Leu1815Val) | |
6 | g.129464345T= | CA1663191507 | LAMA2 | c.7048T= (p.Leu2350=) c.7312T= (p.Leu2438=) n.679T= n.387T= c.7045T= (p.Leu2349=) c.7306T= (p.Leu2436=) c.7318T= (p.Leu2440=) c.5443T= (p.Leu1815=) | |
6 | g.129464346T>A | CA365620251 | LAMA2 | c.7049T>A (p.Leu2350Ter) c.7313T>A (p.Leu2438Ter) n.680T>A n.388T>A c.7046T>A (p.Leu2349Ter) c.7307T>A (p.Leu2436Ter) c.7319T>A (p.Leu2440Ter) c.5444T>A (p.Leu1815Ter) | |
6 | g.129464346T>C | CA365620255 | LAMA2 | c.7049T>C (p.Leu2350Ser) c.7313T>C (p.Leu2438Ser) n.680T>C n.388T>C c.7046T>C (p.Leu2349Ser) c.7307T>C (p.Leu2436Ser) c.7319T>C (p.Leu2440Ser) c.5444T>C (p.Leu1815Ser) | |
6 | g.129464346T>G | CA365620258 | LAMA2 | c.7049T>G (p.Leu2350Trp) c.7313T>G (p.Leu2438Trp) n.680T>G n.388T>G c.7046T>G (p.Leu2349Trp) c.7307T>G (p.Leu2436Trp) c.7319T>G (p.Leu2440Trp) c.5444T>G (p.Leu1815Trp) |