| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129315428T>A | CA3993295 | LAMA2 | c.3556-48T>A (n.3556-48T>A) c.3820-48T>A (n.3820-48T>A) c.3826-48T>A (n.3826-48T>A) c.1951-48T>A (n.1951-48T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315428T>C | CA2680313951 | LAMA2 | c.3556-48T>C (n.3556-48T>C) c.3820-48T>C (n.3820-48T>C) c.3826-48T>C (n.3826-48T>C) c.1951-48T>C (n.1951-48T>C) | gnomAD v4 |
| 6 | g.129315428T= | CA1663079491 | LAMA2 | c.3556-48T= (n.3556-48T=) c.3820-48T= (n.3820-48T=) c.3826-48T= (n.3826-48T=) c.1951-48T= (n.1951-48T=) | |
| 6 | g.129315430T>A | CA2680313952 | LAMA2 | c.3556-46T>A (n.3556-46T>A) c.3820-46T>A (n.3820-46T>A) c.3826-46T>A (n.3826-46T>A) c.1951-46T>A (n.1951-46T>A) | gnomAD v4 |
| 6 | g.129315430T>C | CA2680313953 | LAMA2 | c.3556-46T>C (n.3556-46T>C) c.3820-46T>C (n.3820-46T>C) c.3826-46T>C (n.3826-46T>C) c.1951-46T>C (n.1951-46T>C) | gnomAD v4 |
| 6 | g.129315431C>A | CA2578737107 | LAMA2 | c.3556-45C>A (n.3556-45C>A) c.3820-45C>A (n.3820-45C>A) c.3826-45C>A (n.3826-45C>A) c.1951-45C>A (n.1951-45C>A) | gnomAD v4 |
| 6 | g.129315431C= | CA1663079492 | LAMA2 | c.3556-45C= (n.3556-45C=) c.3820-45C= (n.3820-45C=) c.3826-45C= (n.3826-45C=) c.1951-45C= (n.1951-45C=) | |
| 6 | g.129315431C>G | CA2773034955 | LAMA2 | c.3556-45C>G (n.3556-45C>G) c.3820-45C>G (n.3820-45C>G) c.3826-45C>G (n.3826-45C>G) c.1951-45C>G (n.1951-45C>G) | |
| 6 | g.129315431C>T | CA570205602 | LAMA2 | c.3556-45C>T (n.3556-45C>T) c.3820-45C>T (n.3820-45C>T) c.3826-45C>T (n.3826-45C>T) c.1951-45C>T (n.1951-45C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315432C>A | CA570205603 | LAMA2 | c.3556-44C>A (n.3556-44C>A) c.3820-44C>A (n.3820-44C>A) c.3826-44C>A (n.3826-44C>A) c.1951-44C>A (n.1951-44C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315432C= | CA1663079496 | LAMA2 | c.3556-44C= (n.3556-44C=) c.3820-44C= (n.3820-44C=) c.3826-44C= (n.3826-44C=) c.1951-44C= (n.1951-44C=) | |
| 6 | g.129315432C>T | CA2578737108 | LAMA2 | c.3556-44C>T (n.3556-44C>T) c.3820-44C>T (n.3820-44C>T) c.3826-44C>T (n.3826-44C>T) c.1951-44C>T (n.1951-44C>T) | |
| 6 | g.129315433_129315437del | CA2680313954 | LAMA2 | c.3556-43_3556-39del (n.3556-43_3556-39del) c.3820-43_3820-39del (n.3820-43_3820-39del) c.3826-43_3826-39del (n.3826-43_3826-39del) c.1951-43_1951-39del (n.1951-43_1951-39del) | gnomAD v4 |
| 6 | g.129315433A= | CA1663079501 | LAMA2 | c.3556-43A= (n.3556-43A=) c.3820-43A= (n.3820-43A=) c.3826-43A= (n.3826-43A=) c.1951-43A= (n.1951-43A=) | |
| 6 | g.129315433A>G | CA818856459 | LAMA2 | c.3556-43A>G (n.3556-43A>G) c.3820-43A>G (n.3820-43A>G) c.3826-43A>G (n.3826-43A>G) c.1951-43A>G (n.1951-43A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129315435A>C | CA2680313955 | LAMA2 | c.3556-41A>C (n.3556-41A>C) c.3820-41A>C (n.3820-41A>C) c.3826-41A>C (n.3826-41A>C) c.1951-41A>C (n.1951-41A>C) | gnomAD v4 |
| 6 | g.129315436G>A | CA3993296 | LAMA2 | c.3556-40G>A (n.3556-40G>A) c.3820-40G>A (n.3820-40G>A) c.3826-40G>A (n.3826-40G>A) c.1951-40G>A (n.1951-40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315436G= | CA1663079503 | LAMA2 | c.3556-40G= (n.3556-40G=) c.3820-40G= (n.3820-40G=) c.3826-40G= (n.3826-40G=) c.1951-40G= (n.1951-40G=) | |
| 6 | g.129315437_129315438del | CA2740787082 | LAMA2 | c.3556-39_3556-38del (n.3556-39_3556-38del) c.3820-39_3820-38del (n.3820-39_3820-38del) c.3826-39_3826-38del (n.3826-39_3826-38del) c.1951-39_1951-38del (n.1951-39_1951-38del) | |
| 6 | g.129315437C>A | CA2680313956 | LAMA2 | c.3556-39C>A (n.3556-39C>A) c.3820-39C>A (n.3820-39C>A) c.3826-39C>A (n.3826-39C>A) c.1951-39C>A (n.1951-39C>A) | gnomAD v4 |
| 6 | g.129315437C= | CA1663079508 | LAMA2 | c.3556-39C= (n.3556-39C=) c.3820-39C= (n.3820-39C=) c.3826-39C= (n.3826-39C=) c.1951-39C= (n.1951-39C=) | |
| 6 | g.129315437C>T | CA3993297 | LAMA2 | c.3556-39C>T (n.3556-39C>T) c.3820-39C>T (n.3820-39C>T) c.3826-39C>T (n.3826-39C>T) c.1951-39C>T (n.1951-39C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315438G>A | CA3993298 | LAMA2 | c.3556-38G>A (n.3556-38G>A) c.3820-38G>A (n.3820-38G>A) c.3826-38G>A (n.3826-38G>A) c.1951-38G>A (n.1951-38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315438G= | CA1663079514 | LAMA2 | c.3556-38G= (n.3556-38G=) c.3820-38G= (n.3820-38G=) c.3826-38G= (n.3826-38G=) c.1951-38G= (n.1951-38G=) | |
| 6 | g.129315438G>T | CA570205604 | LAMA2 | c.3556-38G>T (n.3556-38G>T) c.3820-38G>T (n.3820-38G>T) c.3826-38G>T (n.3826-38G>T) c.1951-38G>T (n.1951-38G>T) | dbSNP gnomAD v2 |
| 6 | g.129315439T>C | CA146913784 | LAMA2 | c.3556-37T>C (n.3556-37T>C) c.3820-37T>C (n.3820-37T>C) c.3826-37T>C (n.3826-37T>C) c.1951-37T>C (n.1951-37T>C) | dbSNP |
| 6 | g.129315439T= | CA1663079519 | LAMA2 | c.3556-37T= (n.3556-37T=) c.3820-37T= (n.3820-37T=) c.3826-37T= (n.3826-37T=) c.1951-37T= (n.1951-37T=) | |
| 6 | g.129315440A= | CA1663079527 | LAMA2 | c.3556-36A= (n.3556-36A=) c.3820-36A= (n.3820-36A=) c.3826-36A= (n.3826-36A=) c.1951-36A= (n.1951-36A=) | |
| 6 | g.129315440A>G | CA570205605 | LAMA2 | c.3556-36A>G (n.3556-36A>G) c.3820-36A>G (n.3820-36A>G) c.3826-36A>G (n.3826-36A>G) c.1951-36A>G (n.1951-36A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129315440A>T | CA146913786 | LAMA2 | c.3556-36A>T (n.3556-36A>T) c.3820-36A>T (n.3820-36A>T) c.3826-36A>T (n.3826-36A>T) c.1951-36A>T (n.1951-36A>T) | dbSNP |
| 6 | g.129315441A= | CA1663079530 | LAMA2 | c.3556-35A= (n.3556-35A=) c.3820-35A= (n.3820-35A=) c.3826-35A= (n.3826-35A=) c.1951-35A= (n.1951-35A=) | |
| 6 | g.129315441A>T | CA3993299 | LAMA2 | c.3556-35A>T (n.3556-35A>T) c.3820-35A>T (n.3820-35A>T) c.3826-35A>T (n.3826-35A>T) c.1951-35A>T (n.1951-35A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315442A= | CA1663079532 | LAMA2 | c.3556-34A= (n.3556-34A=) c.3820-34A= (n.3820-34A=) c.3826-34A= (n.3826-34A=) c.1951-34A= (n.1951-34A=) | |
| 6 | g.129315442A>G | CA1094390930 | LAMA2 | c.3556-34A>G (n.3556-34A>G) c.3820-34A>G (n.3820-34A>G) c.3826-34A>G (n.3826-34A>G) c.1951-34A>G (n.1951-34A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129315445C>A | CA2526380061 | LAMA2 | c.3556-31C>A (n.3556-31C>A) c.3820-31C>A (n.3820-31C>A) c.3826-31C>A (n.3826-31C>A) c.1951-31C>A (n.1951-31C>A) | |
| 6 | g.129315446A= | CA1663079549 | LAMA2 | c.3556-30A= (n.3556-30A=) c.3820-30A= (n.3820-30A=) c.3826-30A= (n.3826-30A=) c.1951-30A= (n.1951-30A=) | |
| 6 | g.129315446A>G | CA570205607 | LAMA2 | c.3556-30A>G (n.3556-30A>G) c.3820-30A>G (n.3820-30A>G) c.3826-30A>G (n.3826-30A>G) c.1951-30A>G (n.1951-30A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315446A>T | CA2680313957 | LAMA2 | c.3556-30A>T (n.3556-30A>T) c.3820-30A>T (n.3820-30A>T) c.3826-30A>T (n.3826-30A>T) c.1951-30A>T (n.1951-30A>T) | gnomAD v4 |
| 6 | g.129315447G>A | CA2578737109 | LAMA2 | c.3556-29G>A (n.3556-29G>A) c.3820-29G>A (n.3820-29G>A) c.3826-29G>A (n.3826-29G>A) c.1951-29G>A (n.1951-29G>A) | |
| 6 | g.129315447G= | CA1663079553 | LAMA2 | c.3556-29G= (n.3556-29G=) c.3820-29G= (n.3820-29G=) c.3826-29G= (n.3826-29G=) c.1951-29G= (n.1951-29G=) | |
| 6 | g.129315447G>T | CA3993300 | LAMA2 | c.3556-29G>T (n.3556-29G>T) c.3820-29G>T (n.3820-29G>T) c.3826-29G>T (n.3826-29G>T) c.1951-29G>T (n.1951-29G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315452C>G | CA2680313958 | LAMA2 | c.3556-24C>G (n.3556-24C>G) c.3820-24C>G (n.3820-24C>G) c.3826-24C>G (n.3826-24C>G) c.1951-24C>G (n.1951-24C>G) | gnomAD v4 |
| 6 | g.129315455C>A | CA2680313959 | LAMA2 | c.3556-21C>A (n.3556-21C>A) c.3820-21C>A (n.3820-21C>A) c.3826-21C>A (n.3826-21C>A) c.1951-21C>A (n.1951-21C>A) | gnomAD v4 |
| 6 | g.129315457G>A | CA1663079559 | LAMA2 | c.3556-19G>A (n.3556-19G>A) c.3820-19G>A (n.3820-19G>A) c.3826-19G>A (n.3826-19G>A) c.1951-19G>A (n.1951-19G>A) | dbSNP gnomAD v4 |
| 6 | g.129315457G= | CA1663079558 | LAMA2 | c.3556-19G= (n.3556-19G=) c.3820-19G= (n.3820-19G=) c.3826-19G= (n.3826-19G=) c.1951-19G= (n.1951-19G=) | |
| 6 | g.129315459A= | CA1663079561 | LAMA2 | c.3556-17A= (n.3556-17A=) c.3820-17A= (n.3820-17A=) c.3826-17A= (n.3826-17A=) c.1951-17A= (n.1951-17A=) | |
| 6 | g.129315459A>G | CA1663079562 | LAMA2 | c.3556-17A>G (n.3556-17A>G) c.3820-17A>G (n.3820-17A>G) c.3826-17A>G (n.3826-17A>G) c.1951-17A>G (n.1951-17A>G) | dbSNP |
| 6 | g.129315461T>A | CA2581613908 | LAMA2 | c.3556-15T>A (n.3556-15T>A) c.3820-15T>A (n.3820-15T>A) c.3826-15T>A (n.3826-15T>A) c.1951-15T>A (n.1951-15T>A) | |
| 6 | g.129315461T>C | CA2581613907 | LAMA2 | c.3556-15T>C (n.3556-15T>C) c.3820-15T>C (n.3820-15T>C) c.3826-15T>C (n.3826-15T>C) c.1951-15T>C (n.1951-15T>C) | |
| 6 | g.129315461T>G | CA146118 | LAMA2 | c.3556-15T>G (n.3556-15T>G) c.3820-15T>G (n.3820-15T>G) c.3826-15T>G (n.3826-15T>G) c.1951-15T>G (n.1951-15T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315461T= | CA1663079564 | LAMA2 | c.3556-15T= (n.3556-15T=) c.3820-15T= (n.3820-15T=) c.3826-15T= (n.3826-15T=) c.1951-15T= (n.1951-15T=) | |
| 6 | g.129315462T>C | CA2680313960 | LAMA2 | c.3556-14T>C (n.3556-14T>C) c.3820-14T>C (n.3820-14T>C) c.3826-14T>C (n.3826-14T>C) c.1951-14T>C (n.1951-14T>C) | gnomAD v4 |
| 6 | g.129315463T>A | CA3993301 | LAMA2 | c.3556-13T>A (n.3556-13T>A) c.3820-13T>A (n.3820-13T>A) c.3826-13T>A (n.3826-13T>A) c.1951-13T>A (n.1951-13T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315463T>C | CA2739266097 | LAMA2 | c.3556-13T>C (n.3556-13T>C) c.3820-13T>C (n.3820-13T>C) c.3826-13T>C (n.3826-13T>C) c.1951-13T>C (n.1951-13T>C) | ClinVar |
| 6 | g.129315463T= | CA1663079570 | LAMA2 | c.3556-13T= (n.3556-13T=) c.3820-13T= (n.3820-13T=) c.3826-13T= (n.3826-13T=) c.1951-13T= (n.1951-13T=) | |
| 6 | g.129315465A= | CA1663079579 | LAMA2 | c.3556-11A= (n.3556-11A=) c.3820-11A= (n.3820-11A=) c.3826-11A= (n.3826-11A=) c.1951-11A= (n.1951-11A=) | |
| 6 | g.129315465A>G | CA570205608 | LAMA2 | c.3556-11A>G (n.3556-11A>G) c.3820-11A>G (n.3820-11A>G) c.3826-11A>G (n.3826-11A>G) c.1951-11A>G (n.1951-11A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315465A>T | CA1663079582 | LAMA2 | c.3556-11A>T (n.3556-11A>T) c.3820-11A>T (n.3820-11A>T) c.3826-11A>T (n.3826-11A>T) c.1951-11A>T (n.1951-11A>T) | ClinVar dbSNP |
| 6 | g.129315465_129315466delinsAC | CA1663079577 | LAMA2 | c.3556-11_3556-10delinsAC (n.3556-11_3556-10delinsAC) c.3820-11_3820-10delinsAC (n.3820-11_3820-10delinsAC) c.3826-11_3826-10delinsAC (n.3826-11_3826-10delinsAC) c.1951-11_1951-10delinsAC (n.1951-11_1951-10delinsAC) | |
| 6 | g.129315469del | CA3993302 | LAMA2 | c.3556-7del (n.3556-7del) c.3820-7del (n.3820-7del) c.3826-7del (n.3826-7del) c.1951-7del (n.1951-7del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315467C>A | CA2578737110 | LAMA2 | c.3556-9C>A (n.3556-9C>A) c.3820-9C>A (n.3820-9C>A) c.3826-9C>A (n.3826-9C>A) c.1951-9C>A (n.1951-9C>A) | gnomAD v4 |
| 6 | g.129315467C= | CA1663079587 | LAMA2 | c.3556-9C= (n.3556-9C=) c.3820-9C= (n.3820-9C=) c.3826-9C= (n.3826-9C=) c.1951-9C= (n.1951-9C=) | |
| 6 | g.129315467C>G | CA1663079589 | LAMA2 | c.3556-9C>G (n.3556-9C>G) c.3820-9C>G (n.3820-9C>G) c.3826-9C>G (n.3826-9C>G) c.1951-9C>G (n.1951-9C>G) | dbSNP |
| 6 | g.129315467C>T | CA2680313961 | LAMA2 | c.3556-9C>T (n.3556-9C>T) c.3820-9C>T (n.3820-9C>T) c.3826-9C>T (n.3826-9C>T) c.1951-9C>T (n.1951-9C>T) | gnomAD v4 |
| 6 | g.129315468C>T | CA2578737111 | LAMA2 | c.3556-8C>T (n.3556-8C>T) c.3820-8C>T (n.3820-8C>T) c.3826-8C>T (n.3826-8C>T) c.1951-8C>T (n.1951-8C>T) | gnomAD v4 |
| 6 | g.129315471T>C | CA2697553693 | LAMA2 | c.3556-5T>C (n.3556-5T>C) c.3820-5T>C (n.3820-5T>C) c.3826-5T>C (n.3826-5T>C) c.1951-5T>C (n.1951-5T>C) | ClinVar |
| 6 | g.129315472G>A | CA451936685 | LAMA2 | c.3556-4G>A (n.3556-4G>A) c.3820-4G>A (n.3820-4G>A) c.3826-4G>A (n.3826-4G>A) c.1951-4G>A (n.1951-4G>A) | ClinVar COSMIC |
| 6 | g.129315472G= | CA1663079591 | LAMA2 | c.3556-4G= (n.3556-4G=) c.3820-4G= (n.3820-4G=) c.3826-4G= (n.3826-4G=) c.1951-4G= (n.1951-4G=) | |
| 6 | g.129315472G>T | CA146913820 | LAMA2 | c.3556-4G>T (n.3556-4G>T) c.3820-4G>T (n.3820-4G>T) c.3826-4G>T (n.3826-4G>T) c.1951-4G>T (n.1951-4G>T) | dbSNP gnomAD v4 |
| 6 | g.129315473C>A | CA2580074919 | LAMA2 | c.3556-3C>A (n.3556-3C>A) c.3820-3C>A (n.3820-3C>A) c.3826-3C>A (n.3826-3C>A) c.1951-3C>A (n.1951-3C>A) | ClinVar |
| 6 | g.129315473C>T | CA2680313962 | LAMA2 | c.3556-3C>T (n.3556-3C>T) c.3820-3C>T (n.3820-3C>T) c.3826-3C>T (n.3826-3C>T) c.1951-3C>T (n.1951-3C>T) | gnomAD v4 |
| 6 | g.129315474A>C | CA365612575 | LAMA2 | c.3556-2A>C (n.3556-2A>C) c.3820-2A>C (n.3820-2A>C) c.3826-2A>C (n.3826-2A>C) c.1951-2A>C (n.1951-2A>C) | |
| 6 | g.129315474A>G | CA365612573 | LAMA2 | c.3556-2A>G (n.3556-2A>G) c.3820-2A>G (n.3820-2A>G) c.3826-2A>G (n.3826-2A>G) c.1951-2A>G (n.1951-2A>G) | gnomAD v4 |
| 6 | g.129315474A>T | CA365612572 | LAMA2 | c.3556-2A>T (n.3556-2A>T) c.3820-2A>T (n.3820-2A>T) c.3826-2A>T (n.3826-2A>T) c.1951-2A>T (n.1951-2A>T) | ClinVar |
| 6 | g.129315475G>A | CA365612577 | LAMA2 | c.3556-1G>A (n.3556-1G>A) c.3820-1G>A (n.3820-1G>A) c.3826-1G>A (n.3826-1G>A) c.1951-1G>A (n.1951-1G>A) | |
| 6 | g.129315475G>C | CA365612578 | LAMA2 | c.3556-1G>C (n.3556-1G>C) c.3820-1G>C (n.3820-1G>C) c.3826-1G>C (n.3826-1G>C) c.1951-1G>C (n.1951-1G>C) | ClinVar dbSNP |
| 6 | g.129315475G>T | CA365612580 | LAMA2 | c.3556-1G>T (n.3556-1G>T) c.3820-1G>T (n.3820-1G>T) c.3826-1G>T (n.3826-1G>T) c.1951-1G>T (n.1951-1G>T) | |
| 6 | g.129315476G>A | CA365612581 | LAMA2 | c.3556G>A (p.Val1186Met) c.3820G>A (p.Val1274Met) c.3826G>A (p.Val1276Met) c.1951G>A (p.Val651Met) | |
| 6 | g.129315476G>C | CA365612582 | LAMA2 | c.3556G>C (p.Val1186Leu) c.3820G>C (p.Val1274Leu) c.3826G>C (p.Val1276Leu) c.1951G>C (p.Val651Leu) | |
| 6 | g.129315476G>T | CA365612584 | LAMA2 | c.3556G>T (p.Val1186Leu) c.3820G>T (p.Val1274Leu) c.3826G>T (p.Val1276Leu) c.1951G>T (p.Val651Leu) | |
| 6 | g.129315477T>A | CA365612586 | LAMA2 | c.3557T>A (p.Val1186Glu) c.3821T>A (p.Val1274Glu) c.3827T>A (p.Val1276Glu) c.1952T>A (p.Val651Glu) | |
| 6 | g.129315477T>C | CA365612587 | LAMA2 | c.3557T>C (p.Val1186Ala) c.3821T>C (p.Val1274Ala) c.3827T>C (p.Val1276Ala) c.1952T>C (p.Val651Ala) | |
| 6 | g.129315477T>G | CA365612588 | LAMA2 | c.3557T>G (p.Val1186Gly) c.3821T>G (p.Val1274Gly) c.3827T>G (p.Val1276Gly) c.1952T>G (p.Val651Gly) | |
| 6 | g.129315478G>A | CA146913828 | LAMA2 | c.3558G>A (p.Val1186=) c.3822G>A (p.Val1274=) c.3828G>A (p.Val1276=) c.1953G>A (p.Val651=) | dbSNP gnomAD v4 |
| 6 | g.129315478G>C | CA451936686 | LAMA2 | c.3558G>C (p.Val1186=) c.3822G>C (p.Val1274=) c.3828G>C (p.Val1276=) c.1953G>C (p.Val651=) | |
| 6 | g.129315478G= | CA1663079594 | LAMA2 | c.3558G= (p.Val1186=) c.3822G= (p.Val1274=) c.3828G= (p.Val1276=) c.1953G= (p.Val651=) | |
| 6 | g.129315478G>T | CA451936687 | LAMA2 | c.3558G>T (p.Val1186=) c.3822G>T (p.Val1274=) c.3828G>T (p.Val1276=) c.1953G>T (p.Val651=) | |
| 6 | g.129315479A= | CA1663079599 | LAMA2 | c.3559A= (p.Thr1187=) c.3823A= (p.Thr1275=) c.3829A= (p.Thr1277=) c.1954A= (p.Thr652=) | |
| 6 | g.129315479A>C | CA365612589 | LAMA2 | c.3559A>C (p.Thr1187Pro) c.3823A>C (p.Thr1275Pro) c.3829A>C (p.Thr1277Pro) c.1954A>C (p.Thr652Pro) | |
| 6 | g.129315479A>G | CA365612590 | LAMA2 | c.3559A>G (p.Thr1187Ala) c.3823A>G (p.Thr1275Ala) c.3829A>G (p.Thr1277Ala) c.1954A>G (p.Thr652Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129315479A>T | CA365612592 | LAMA2 | c.3559A>T (p.Thr1187Ser) c.3823A>T (p.Thr1275Ser) c.3829A>T (p.Thr1277Ser) c.1954A>T (p.Thr652Ser) | |
| 6 | g.129315479_129315481delinsACT | CA1663079600 | LAMA2 | c.3559_3561delinsACT (p.Thr1187=) c.3823_3825delinsACT (p.Thr1275=) c.3829_3831delinsACT (p.Thr1277=) c.1954_1956delinsACT (p.Thr652=) | |
| 6 | g.129315480C>A | CA365612594 | LAMA2 | c.3560C>A (p.Thr1187Asn) c.3824C>A (p.Thr1275Asn) c.3830C>A (p.Thr1277Asn) c.1955C>A (p.Thr652Asn) | |
| 6 | g.129315480C>G | CA365612595 | LAMA2 | c.3560C>G (p.Thr1187Ser) c.3824C>G (p.Thr1275Ser) c.3830C>G (p.Thr1277Ser) c.1955C>G (p.Thr652Ser) | |
| 6 | g.129315480C>T | CA365612593 | LAMA2 | c.3560C>T (p.Thr1187Ile) c.3824C>T (p.Thr1275Ile) c.3830C>T (p.Thr1277Ile) c.1955C>T (p.Thr652Ile) | |
| 6 | g.129315482_129315483del | CA915943608 | LAMA2 | c.3562_3563del (p.Leu1188GlufsTer3) c.3826_3827del (p.Leu1276GlufsTer3) c.3832_3833del (p.Leu1278GlufsTer3) c.1957_1958del (p.Leu653GlufsTer3) | ClinVar dbSNP |
| 6 | g.129315480_129315489del | CA2695206984 | LAMA2 | c.3560_3569del (p.Thr1187MetfsTer9) c.3824_3833del (p.Thr1275MetfsTer9) c.3830_3839del (p.Thr1277MetfsTer9) c.1955_1964del (p.Thr652MetfsTer9) | |
| 6 | g.129315481T>A | CA451936688 | LAMA2 | c.3561T>A (p.Thr1187=) c.3825T>A (p.Thr1275=) c.3831T>A (p.Thr1277=) c.1956T>A (p.Thr652=) | |
| 6 | g.129315481T>C | CA451936689 | LAMA2 | c.3561T>C (p.Thr1187=) c.3825T>C (p.Thr1275=) c.3831T>C (p.Thr1277=) c.1956T>C (p.Thr652=) | |
| 6 | g.129315481T>G | CA451936690 | LAMA2 | c.3561T>G (p.Thr1187=) c.3825T>G (p.Thr1275=) c.3831T>G (p.Thr1277=) c.1956T>G (p.Thr652=) | |
| 6 | g.129315482C>A | CA365612596 | LAMA2 | c.3562C>A (p.Leu1188Met) c.3826C>A (p.Leu1276Met) c.3832C>A (p.Leu1278Met) c.1957C>A (p.Leu653Met) | |
| 6 | g.129315482C>G | CA365612598 | LAMA2 | c.3562C>G (p.Leu1188Val) c.3826C>G (p.Leu1276Val) c.3832C>G (p.Leu1278Val) c.1957C>G (p.Leu653Val) | |
| 6 | g.129315482C>T | CA451936691 | LAMA2 | c.3562C>T (p.Leu1188=) c.3826C>T (p.Leu1276=) c.3832C>T (p.Leu1278=) c.1957C>T (p.Leu653=) | |
| 6 | g.129315483T>A | CA365612599 | LAMA2 | c.3563T>A (p.Leu1188Gln) c.3827T>A (p.Leu1276Gln) c.3833T>A (p.Leu1278Gln) c.1958T>A (p.Leu653Gln) | |
| 6 | g.129315483T>C | CA365612601 | LAMA2 | c.3563T>C (p.Leu1188Pro) c.3827T>C (p.Leu1276Pro) c.3833T>C (p.Leu1278Pro) c.1958T>C (p.Leu653Pro) | gnomAD v4 |
| 6 | g.129315483T>G | CA365612602 | LAMA2 | c.3563T>G (p.Leu1188Arg) c.3827T>G (p.Leu1276Arg) c.3833T>G (p.Leu1278Arg) c.1958T>G (p.Leu653Arg) | |
| 6 | g.129315484G>A | CA451936692 | LAMA2 | c.3564G>A (p.Leu1188=) c.3828G>A (p.Leu1276=) c.3834G>A (p.Leu1278=) c.1959G>A (p.Leu653=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129315484G>C | CA451936693 | LAMA2 | c.3564G>C (p.Leu1188=) c.3828G>C (p.Leu1276=) c.3834G>C (p.Leu1278=) c.1959G>C (p.Leu653=) | |
| 6 | g.129315484G= | CA1663079606 | LAMA2 | c.3564G= (p.Leu1188=) c.3828G= (p.Leu1276=) c.3834G= (p.Leu1278=) c.1959G= (p.Leu653=) | |
| 6 | g.129315484G>T | CA451936694 | LAMA2 | c.3564G>T (p.Leu1188=) c.3828G>T (p.Leu1276=) c.3834G>T (p.Leu1278=) c.1959G>T (p.Leu653=) | |
| 6 | g.129315485A>C | CA365612606 | LAMA2 | c.3565A>C (p.Lys1189Gln) c.3829A>C (p.Lys1277Gln) c.3835A>C (p.Lys1279Gln) c.1960A>C (p.Lys654Gln) | |
| 6 | g.129315485A>G | CA365612604 | LAMA2 | c.3565A>G (p.Lys1189Glu) c.3829A>G (p.Lys1277Glu) c.3835A>G (p.Lys1279Glu) c.1960A>G (p.Lys654Glu) | |
| 6 | g.129315485A>T | CA365612605 | LAMA2 | c.3565A>T (p.Lys1189Ter) c.3829A>T (p.Lys1277Ter) c.3835A>T (p.Lys1279Ter) c.1960A>T (p.Lys654Ter) | |
| 6 | g.129315486A>C | CA365612608 | LAMA2 | c.3566A>C (p.Lys1189Thr) c.3830A>C (p.Lys1277Thr) c.3836A>C (p.Lys1279Thr) c.1961A>C (p.Lys654Thr) | |
| 6 | g.129315486A>G | CA365612609 | LAMA2 | c.3566A>G (p.Lys1189Arg) c.3830A>G (p.Lys1277Arg) c.3836A>G (p.Lys1279Arg) c.1961A>G (p.Lys654Arg) | |
| 6 | g.129315486A>T | CA365612611 | LAMA2 | c.3566A>T (p.Lys1189Met) c.3830A>T (p.Lys1277Met) c.3836A>T (p.Lys1279Met) c.1961A>T (p.Lys654Met) | |
| 6 | g.129315487G>A | CA451936695 | LAMA2 | c.3567G>A (p.Lys1189=) c.3831G>A (p.Lys1277=) c.3837G>A (p.Lys1279=) c.1962G>A (p.Lys654=) | COSMIC |
| 6 | g.129315487G>C | CA365612613 | LAMA2 | c.3567G>C (p.Lys1189Asn) c.3831G>C (p.Lys1277Asn) c.3837G>C (p.Lys1279Asn) c.1962G>C (p.Lys654Asn) | |
| 6 | g.129315487G>T | CA365612614 | LAMA2 | c.3567G>T (p.Lys1189Asn) c.3831G>T (p.Lys1277Asn) c.3837G>T (p.Lys1279Asn) c.1962G>T (p.Lys654Asn) | dbSNP gnomAD v4 |
| 6 | g.129315488G>A | CA365612615 | LAMA2 | c.3568G>A (p.Ala1190Thr) c.3832G>A (p.Ala1278Thr) c.3838G>A (p.Ala1280Thr) c.1963G>A (p.Ala655Thr) | |
| 6 | g.129315488G>C | CA365612618 | LAMA2 | c.3568G>C (p.Ala1190Pro) c.3832G>C (p.Ala1278Pro) c.3838G>C (p.Ala1280Pro) c.1963G>C (p.Ala655Pro) | |
| 6 | g.129315488G= | CA1663079608 | LAMA2 | c.3568G= (p.Ala1190=) c.3832G= (p.Ala1278=) c.3838G= (p.Ala1280=) c.1963G= (p.Ala655=) | |
| 6 | g.129315488G>T | CA365612616 | LAMA2 | c.3568G>T (p.Ala1190Ser) c.3832G>T (p.Ala1278Ser) c.3838G>T (p.Ala1280Ser) c.1963G>T (p.Ala655Ser) | |
| 6 | g.129315488_129315489insT | CA1663079609 | LAMA2 | c.3568_3569insT (p.Ala1190ValfsTer2) c.3832_3833insT (p.Ala1278ValfsTer2) c.3838_3839insT (p.Ala1280ValfsTer2) c.1963_1964insT (p.Ala655ValfsTer2) | dbSNP |
| 6 | g.129315489C>A | CA365612619 | LAMA2 | c.3569C>A (p.Ala1190Asp) c.3833C>A (p.Ala1278Asp) c.3839C>A (p.Ala1280Asp) c.1964C>A (p.Ala655Asp) | |
| 6 | g.129315489C>G | CA365612621 | LAMA2 | c.3569C>G (p.Ala1190Gly) c.3833C>G (p.Ala1278Gly) c.3839C>G (p.Ala1280Gly) c.1964C>G (p.Ala655Gly) | |
| 6 | g.129315489C>T | CA365612622 | LAMA2 | c.3569C>T (p.Ala1190Val) c.3833C>T (p.Ala1278Val) c.3839C>T (p.Ala1280Val) c.1964C>T (p.Ala655Val) | |
| 6 | g.129315490T>A | CA451936696 | LAMA2 | c.3570T>A (p.Ala1190=) c.3834T>A (p.Ala1278=) c.3840T>A (p.Ala1280=) c.1965T>A (p.Ala655=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129315490T>C | CA3993303 | LAMA2 | c.3570T>C (p.Ala1190=) c.3834T>C (p.Ala1278=) c.3840T>C (p.Ala1280=) c.1965T>C (p.Ala655=) | ClinVar dbSNP ExAC gnomAD v2 |
| 6 | g.129315490T>G | CA451936697 | LAMA2 | c.3570T>G (p.Ala1190=) c.3834T>G (p.Ala1278=) c.3840T>G (p.Ala1280=) c.1965T>G (p.Ala655=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129315490T= | CA1663079614 | LAMA2 | c.3570T= (p.Ala1190=) c.3834T= (p.Ala1278=) c.3840T= (p.Ala1280=) c.1965T= (p.Ala655=) | |
| 6 | g.129315491G>A | CA365612625 | LAMA2 | c.3571G>A (p.Glu1191Lys) c.3835G>A (p.Glu1279Lys) c.3841G>A (p.Glu1281Lys) c.1966G>A (p.Glu656Lys) | gnomAD v4 COSMIC |
| 6 | g.129315491G>C | CA365612626 | LAMA2 | c.3571G>C (p.Glu1191Gln) c.3835G>C (p.Glu1279Gln) c.3841G>C (p.Glu1281Gln) c.1966G>C (p.Glu656Gln) | |
| 6 | g.129315491G>T | CA365612628 | LAMA2 | c.3571G>T (p.Glu1191Ter) c.3835G>T (p.Glu1279Ter) c.3841G>T (p.Glu1281Ter) c.1966G>T (p.Glu656Ter) | COSMIC |
| 6 | g.129315492A= | CA1663079622 | LAMA2 | c.3572A= (p.Glu1191=) c.3836A= (p.Glu1279=) c.3842A= (p.Glu1281=) c.1967A= (p.Glu656=) | |
| 6 | g.129315492A>C | CA365612630 | LAMA2 | c.3572A>C (p.Glu1191Ala) c.3836A>C (p.Glu1279Ala) c.3842A>C (p.Glu1281Ala) c.1967A>C (p.Glu656Ala) | |
| 6 | g.129315492A>G | CA365612631 | LAMA2 | c.3572A>G (p.Glu1191Gly) c.3836A>G (p.Glu1279Gly) c.3842A>G (p.Glu1281Gly) c.1967A>G (p.Glu656Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129315492A>T | CA365612632 | LAMA2 | c.3572A>T (p.Glu1191Val) c.3836A>T (p.Glu1279Val) c.3842A>T (p.Glu1281Val) c.1967A>T (p.Glu656Val) | |
| 6 | g.129315493G>A | CA451936698 | LAMA2 | c.3573G>A (p.Glu1191=) c.3837G>A (p.Glu1279=) c.3843G>A (p.Glu1281=) c.1968G>A (p.Glu656=) | |
| 6 | g.129315493G>C | CA365612634 | LAMA2 | c.3573G>C (p.Glu1191Asp) c.3837G>C (p.Glu1279Asp) c.3843G>C (p.Glu1281Asp) c.1968G>C (p.Glu656Asp) | |
| 6 | g.129315493G= | CA1663079625 | LAMA2 | c.3573G= (p.Glu1191=) c.3837G= (p.Glu1279=) c.3843G= (p.Glu1281=) c.1968G= (p.Glu656=) | |
| 6 | g.129315493G>T | CA3993304 | LAMA2 | c.3573G>T (p.Glu1191Asp) c.3837G>T (p.Glu1279Asp) c.3843G>T (p.Glu1281Asp) c.1968G>T (p.Glu656Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315494C>A | CA146913858 | LAMA2 | c.3574C>A (p.Gln1192Lys) c.3838C>A (p.Gln1280Lys) c.3844C>A (p.Gln1282Lys) c.1969C>A (p.Gln657Lys) | dbSNP gnomAD v4 |
| 6 | g.129315494C= | CA1663079630 | LAMA2 | c.3574C= (p.Gln1192=) c.3838C= (p.Gln1280=) c.3844C= (p.Gln1282=) c.1969C= (p.Gln657=) | |
| 6 | g.129315494C>G | CA365612638 | LAMA2 | c.3574C>G (p.Gln1192Glu) c.3838C>G (p.Gln1280Glu) c.3844C>G (p.Gln1282Glu) c.1969C>G (p.Gln657Glu) | |
| 6 | g.129315494C>T | CA365612636 | LAMA2 | c.3574C>T (p.Gln1192Ter) c.3838C>T (p.Gln1280Ter) c.3844C>T (p.Gln1282Ter) c.1969C>T (p.Gln657Ter) | |
| 6 | g.129315495A>C | CA365612639 | LAMA2 | c.3575A>C (p.Gln1192Pro) c.3839A>C (p.Gln1280Pro) c.3845A>C (p.Gln1282Pro) c.1970A>C (p.Gln657Pro) | |
| 6 | g.129315495A>G | CA365612641 | LAMA2 | c.3575A>G (p.Gln1192Arg) c.3839A>G (p.Gln1280Arg) c.3845A>G (p.Gln1282Arg) c.1970A>G (p.Gln657Arg) | |
| 6 | g.129315495A>T | CA365612643 | LAMA2 | c.3575A>T (p.Gln1192Leu) c.3839A>T (p.Gln1280Leu) c.3845A>T (p.Gln1282Leu) c.1970A>T (p.Gln657Leu) | |
| 6 | g.129315496G>A | CA451936699 | LAMA2 | c.3576G>A (p.Gln1192=) c.3840G>A (p.Gln1280=) c.3846G>A (p.Gln1282=) c.1971G>A (p.Gln657=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315496G>C | CA365612644 | LAMA2 | c.3576G>C (p.Gln1192His) c.3840G>C (p.Gln1280His) c.3846G>C (p.Gln1282His) c.1971G>C (p.Gln657His) | gnomAD v4 |
| 6 | g.129315496G= | CA1663079635 | LAMA2 | c.3576G= (p.Gln1192=) c.3840G= (p.Gln1280=) c.3846G= (p.Gln1282=) c.1971G= (p.Gln657=) | |
| 6 | g.129315496G>T | CA365612646 | LAMA2 | c.3576G>T (p.Gln1192His) c.3840G>T (p.Gln1280His) c.3846G>T (p.Gln1282His) c.1971G>T (p.Gln657His) | |
| 6 | g.129315497A= | CA1663079640 | LAMA2 | c.3577A= (p.Thr1193=) c.3841A= (p.Thr1281=) c.3847A= (p.Thr1283=) c.1972A= (p.Thr658=) | |
| 6 | g.129315497A>C | CA365612650 | LAMA2 | c.3577A>C (p.Thr1193Pro) c.3841A>C (p.Thr1281Pro) c.3847A>C (p.Thr1283Pro) c.1972A>C (p.Thr658Pro) | |
| 6 | g.129315497A>G | CA365612648 | LAMA2 | c.3577A>G (p.Thr1193Ala) c.3841A>G (p.Thr1281Ala) c.3847A>G (p.Thr1283Ala) c.1972A>G (p.Thr658Ala) | |
| 6 | g.129315497A>T | CA365612647 | LAMA2 | c.3577A>T (p.Thr1193Ser) c.3841A>T (p.Thr1281Ser) c.3847A>T (p.Thr1283Ser) c.1972A>T (p.Thr658Ser) | dbSNP |
| 6 | g.129315498C>A | CA365612651 | LAMA2 | c.3578C>A (p.Thr1193Asn) c.3842C>A (p.Thr1281Asn) c.3848C>A (p.Thr1283Asn) c.1973C>A (p.Thr658Asn) | |
| 6 | g.129315498C= | CA1663079645 | LAMA2 | c.3578C= (p.Thr1193=) c.3842C= (p.Thr1281=) c.3848C= (p.Thr1283=) c.1973C= (p.Thr658=) | |
| 6 | g.129315498C>G | CA3993305 | LAMA2 | c.3578C>G (p.Thr1193Ser) c.3842C>G (p.Thr1281Ser) c.3848C>G (p.Thr1283Ser) c.1973C>G (p.Thr658Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315498C>T | CA365612652 | LAMA2 | c.3578C>T (p.Thr1193Ile) c.3842C>T (p.Thr1281Ile) c.3848C>T (p.Thr1283Ile) c.1973C>T (p.Thr658Ile) | gnomAD v4 |
| 6 | g.129315499C>A | CA451936700 | LAMA2 | c.3579C>A (p.Thr1193=) c.3843C>A (p.Thr1281=) c.3849C>A (p.Thr1283=) c.1974C>A (p.Thr658=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129315499C= | CA1663079650 | LAMA2 | c.3579C= (p.Thr1193=) c.3843C= (p.Thr1281=) c.3849C= (p.Thr1283=) c.1974C= (p.Thr658=) | |
| 6 | g.129315499C>G | CA3993306 | LAMA2 | c.3579C>G (p.Thr1193=) c.3843C>G (p.Thr1281=) c.3849C>G (p.Thr1283=) c.1974C>G (p.Thr658=) | dbSNP ExAC gnomAD v2 |
| 6 | g.129315499C>T | CA451936701 | LAMA2 | c.3579C>T (p.Thr1193=) c.3843C>T (p.Thr1281=) c.3849C>T (p.Thr1283=) c.1974C>T (p.Thr658=) | |
| 6 | g.129315500A= | CA1663079653 | LAMA2 | c.3580A= (p.Ile1194=) c.3844A= (p.Ile1282=) c.3850A= (p.Ile1284=) c.1975A= (p.Ile659=) | |
| 6 | g.129315500A>C | CA365612654 | LAMA2 | c.3580A>C (p.Ile1194Leu) c.3844A>C (p.Ile1282Leu) c.3850A>C (p.Ile1284Leu) c.1975A>C (p.Ile659Leu) | |
| 6 | g.129315500A>G | CA365612656 | LAMA2 | c.3580A>G (p.Ile1194Val) c.3844A>G (p.Ile1282Val) c.3850A>G (p.Ile1284Val) c.1975A>G (p.Ile659Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129315500A>T | CA365612658 | LAMA2 | c.3580A>T (p.Ile1194Phe) c.3844A>T (p.Ile1282Phe) c.3850A>T (p.Ile1284Phe) c.1975A>T (p.Ile659Phe) | |
| 6 | g.129315501T>A | CA365612660 | LAMA2 | c.3581T>A (p.Ile1194Asn) c.3845T>A (p.Ile1282Asn) c.3851T>A (p.Ile1284Asn) c.1976T>A (p.Ile659Asn) | |
| 6 | g.129315501T>C | CA365612662 | LAMA2 | c.3581T>C (p.Ile1194Thr) c.3845T>C (p.Ile1282Thr) c.3851T>C (p.Ile1284Thr) c.1976T>C (p.Ile659Thr) | |
| 6 | g.129315501T>G | CA365612661 | LAMA2 | c.3581T>G (p.Ile1194Ser) c.3845T>G (p.Ile1282Ser) c.3851T>G (p.Ile1284Ser) c.1976T>G (p.Ile659Ser) | |
| 6 | g.129315502T>A | CA451936702 | LAMA2 | c.3582T>A (p.Ile1194=) c.3846T>A (p.Ile1282=) c.3852T>A (p.Ile1284=) c.1977T>A (p.Ile659=) | |
| 6 | g.129315502T>C | CA3993307 | LAMA2 | c.3582T>C (p.Ile1194=) c.3846T>C (p.Ile1282=) c.3852T>C (p.Ile1284=) c.1977T>C (p.Ile659=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315502T>G | CA365612664 | LAMA2 | c.3582T>G (p.Ile1194Met) c.3846T>G (p.Ile1282Met) c.3852T>G (p.Ile1284Met) c.1977T>G (p.Ile659Met) | |
| 6 | g.129315502T= | CA1663079657 | LAMA2 | c.3582T= (p.Ile1194=) c.3846T= (p.Ile1282=) c.3852T= (p.Ile1284=) c.1977T= (p.Ile659=) | |
| 6 | g.129315503C>A | CA365612666 | LAMA2 | c.3583C>A (p.Leu1195Ile) c.3847C>A (p.Leu1283Ile) c.3853C>A (p.Leu1285Ile) c.1978C>A (p.Leu660Ile) | |
| 6 | g.129315503C= | CA1663079665 | LAMA2 | c.3583C= (p.Leu1195=) c.3847C= (p.Leu1283=) c.3853C= (p.Leu1285=) c.1978C= (p.Leu660=) | |
| 6 | g.129315503C>G | CA365612668 | LAMA2 | c.3583C>G (p.Leu1195Val) c.3847C>G (p.Leu1283Val) c.3853C>G (p.Leu1285Val) c.1978C>G (p.Leu660Val) | |
| 6 | g.129315503C>T | CA146913877 | LAMA2 | c.3583C>T (p.Leu1195=) c.3847C>T (p.Leu1283=) c.3853C>T (p.Leu1285=) c.1978C>T (p.Leu660=) | dbSNP COSMIC |
| 6 | g.129315504T>A | CA365612669 | LAMA2 | c.3584T>A (p.Leu1195Gln) c.3848T>A (p.Leu1283Gln) c.3854T>A (p.Leu1285Gln) c.1979T>A (p.Leu660Gln) | dbSNP gnomAD v4 |
| 6 | g.129315504T>C | CA3993308 | LAMA2 | c.3584T>C (p.Leu1195Pro) c.3848T>C (p.Leu1283Pro) c.3854T>C (p.Leu1285Pro) c.1979T>C (p.Leu660Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315504T>G | CA365612672 | LAMA2 | c.3584T>G (p.Leu1195Arg) c.3848T>G (p.Leu1283Arg) c.3854T>G (p.Leu1285Arg) c.1979T>G (p.Leu660Arg) | |
| 6 | g.129315504T= | CA1663079669 | LAMA2 | c.3584T= (p.Leu1195=) c.3848T= (p.Leu1283=) c.3854T= (p.Leu1285=) c.1979T= (p.Leu660=) | |
| 6 | g.129315505A= | CA1663079672 | LAMA2 | c.3585A= (p.Leu1195=) c.3849A= (p.Leu1283=) c.3855A= (p.Leu1285=) c.1980A= (p.Leu660=) | |
| 6 | g.129315505A>C | CA451936703 | LAMA2 | c.3585A>C (p.Leu1195=) c.3849A>C (p.Leu1283=) c.3855A>C (p.Leu1285=) c.1980A>C (p.Leu660=) | |
| 6 | g.129315505A>G | CA242505 | LAMA2 | c.3585A>G (p.Leu1195=) c.3849A>G (p.Leu1283=) c.3855A>G (p.Leu1285=) c.1980A>G (p.Leu660=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315505A>T | CA451936704 | LAMA2 | c.3585A>T (p.Leu1195=) c.3849A>T (p.Leu1283=) c.3855A>T (p.Leu1285=) c.1980A>T (p.Leu660=) | |
| 6 | g.129315506C>A | CA365612674 | LAMA2 | c.3586C>A (p.Pro1196Thr) c.3850C>A (p.Pro1284Thr) c.3856C>A (p.Pro1286Thr) c.1981C>A (p.Pro661Thr) | |
| 6 | g.129315506C= | CA1663079678 | LAMA2 | c.3586C= (p.Pro1196=) c.3850C= (p.Pro1284=) c.3856C= (p.Pro1286=) c.1981C= (p.Pro661=) | |
| 6 | g.129315506C>G | CA365612676 | LAMA2 | c.3586C>G (p.Pro1196Ala) c.3850C>G (p.Pro1284Ala) c.3856C>G (p.Pro1286Ala) c.1981C>G (p.Pro661Ala) | |
| 6 | g.129315506C>T | CA3993309 | LAMA2 | c.3586C>T (p.Pro1196Ser) c.3850C>T (p.Pro1284Ser) c.3856C>T (p.Pro1286Ser) c.1981C>T (p.Pro661Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315509del | CA645546660 | LAMA2 | c.3589del (p.Leu1197TrpfsTer2) c.3853del (p.Leu1285TrpfsTer2) c.3859del (p.Leu1287TrpfsTer2) c.1984del (p.Leu662TrpfsTer2) | COSMIC |
| 6 | g.129315507C>A | CA365612678 | LAMA2 | c.3587C>A (p.Pro1196His) c.3851C>A (p.Pro1284His) c.3857C>A (p.Pro1286His) c.1982C>A (p.Pro661His) | gnomAD v4 |
| 6 | g.129315507C= | CA1663079684 | LAMA2 | c.3587C= (p.Pro1196=) c.3851C= (p.Pro1284=) c.3857C= (p.Pro1286=) c.1982C= (p.Pro661=) | |
| 6 | g.129315507C>G | CA365612681 | LAMA2 | c.3587C>G (p.Pro1196Arg) c.3851C>G (p.Pro1284Arg) c.3857C>G (p.Pro1286Arg) c.1982C>G (p.Pro661Arg) | |
| 6 | g.129315507C>T | CA365612680 | LAMA2 | c.3587C>T (p.Pro1196Leu) c.3851C>T (p.Pro1284Leu) c.3857C>T (p.Pro1286Leu) c.1982C>T (p.Pro661Leu) | dbSNP gnomAD v4 |
| 6 | g.129315508C>A | CA451936707 | LAMA2 | c.3588C>A (p.Pro1196=) c.3852C>A (p.Pro1284=) c.3858C>A (p.Pro1286=) c.1983C>A (p.Pro661=) | gnomAD v4 |
| 6 | g.129315508C>G | CA451936706 | LAMA2 | c.3588C>G (p.Pro1196=) c.3852C>G (p.Pro1284=) c.3858C>G (p.Pro1286=) c.1983C>G (p.Pro661=) | |
| 6 | g.129315508C>T | CA451936705 | LAMA2 | c.3588C>T (p.Pro1196=) c.3852C>T (p.Pro1284=) c.3858C>T (p.Pro1286=) c.1983C>T (p.Pro661=) | gnomAD v4 COSMIC |
| 6 | g.129315509C>A | CA365612682 | LAMA2 | c.3589C>A (p.Leu1197Met) c.3853C>A (p.Leu1285Met) c.3859C>A (p.Leu1287Met) c.1984C>A (p.Leu662Met) | |
| 6 | g.129315509C>G | CA365612684 | LAMA2 | c.3589C>G (p.Leu1197Val) c.3853C>G (p.Leu1285Val) c.3859C>G (p.Leu1287Val) c.1984C>G (p.Leu662Val) | |
| 6 | g.129315509C>T | CA451936708 | LAMA2 | c.3589C>T (p.Leu1197=) c.3853C>T (p.Leu1285=) c.3859C>T (p.Leu1287=) c.1984C>T (p.Leu662=) | |
| 6 | g.129315510T>A | CA365612686 | LAMA2 | c.3590T>A (p.Leu1197Gln) c.3854T>A (p.Leu1285Gln) c.3860T>A (p.Leu1287Gln) c.1985T>A (p.Leu662Gln) | |
| 6 | g.129315510T>C | CA365612687 | LAMA2 | c.3590T>C (p.Leu1197Pro) c.3854T>C (p.Leu1285Pro) c.3860T>C (p.Leu1287Pro) c.1985T>C (p.Leu662Pro) | ClinVar dbSNP |
| 6 | g.129315510T>G | CA365612689 | LAMA2 | c.3590T>G (p.Leu1197Arg) c.3854T>G (p.Leu1285Arg) c.3860T>G (p.Leu1287Arg) c.1985T>G (p.Leu662Arg) | |
| 6 | g.129315511G>A | CA451936709 | LAMA2 | c.3591G>A (p.Leu1197=) c.3855G>A (p.Leu1285=) c.3861G>A (p.Leu1287=) c.1986G>A (p.Leu662=) | ClinVar |
| 6 | g.129315511G>C | CA3993310 | LAMA2 | c.3591G>C (p.Leu1197=) c.3855G>C (p.Leu1285=) c.3861G>C (p.Leu1287=) c.1986G>C (p.Leu662=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315511G= | CA1663079689 | LAMA2 | c.3591G= (p.Leu1197=) c.3855G= (p.Leu1285=) c.3861G= (p.Leu1287=) c.1986G= (p.Leu662=) | |
| 6 | g.129315511G>T | CA451936710 | LAMA2 | c.3591G>T (p.Leu1197=) c.3855G>T (p.Leu1285=) c.3861G>T (p.Leu1287=) c.1986G>T (p.Leu662=) | gnomAD v4 |
| 6 | g.129315512G>A | CA365612691 | LAMA2 | c.3592G>A (p.Val1198Ile) c.3856G>A (p.Val1286Ile) c.3862G>A (p.Val1288Ile) c.1987G>A (p.Val663Ile) | |
| 6 | g.129315512G>C | CA365612693 | LAMA2 | c.3592G>C (p.Val1198Leu) c.3856G>C (p.Val1286Leu) c.3862G>C (p.Val1288Leu) c.1987G>C (p.Val663Leu) | gnomAD v4 |
| 6 | g.129315512G= | CA1663079692 | LAMA2 | c.3592G= (p.Val1198=) c.3856G= (p.Val1286=) c.3862G= (p.Val1288=) c.1987G= (p.Val663=) | |
| 6 | g.129315512G>T | CA365612695 | LAMA2 | c.3592G>T (p.Val1198Leu) c.3856G>T (p.Val1286Leu) c.3862G>T (p.Val1288Leu) c.1987G>T (p.Val663Leu) | dbSNP |
| 6 | g.129315513T>A | CA365612696 | LAMA2 | c.3593T>A (p.Val1198Glu) c.3857T>A (p.Val1286Glu) c.3863T>A (p.Val1288Glu) c.1988T>A (p.Val663Glu) | |
| 6 | g.129315513T>C | CA3993311 | LAMA2 | c.3593T>C (p.Val1198Ala) c.3857T>C (p.Val1286Ala) c.3863T>C (p.Val1288Ala) c.1988T>C (p.Val663Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315513T>G | CA365612698 | LAMA2 | c.3593T>G (p.Val1198Gly) c.3857T>G (p.Val1286Gly) c.3863T>G (p.Val1288Gly) c.1988T>G (p.Val663Gly) | |
| 6 | g.129315513T= | CA1663079693 | LAMA2 | c.3593T= (p.Val1198=) c.3857T= (p.Val1286=) c.3863T= (p.Val1288=) c.1988T= (p.Val663=) | |
| 6 | g.129315513_129315525del | CA2573052577 | LAMA2 | c.3593_3605del (p.Val1198GlyfsTer22) c.3857_3869del (p.Val1286GlyfsTer22) c.3863_3875del (p.Val1288GlyfsTer22) c.1988_2000del (p.Val663GlyfsTer22) | ClinVar dbSNP |
| 6 | g.129315514A= | CA1663079696 | LAMA2 | c.3594A= (p.Val1198=) c.3858A= (p.Val1286=) c.3864A= (p.Val1288=) c.1989A= (p.Val663=) | |
| 6 | g.129315514A>C | CA451936711 | LAMA2 | c.3594A>C (p.Val1198=) c.3858A>C (p.Val1286=) c.3864A>C (p.Val1288=) c.1989A>C (p.Val663=) | |
| 6 | g.129315514A>G | CA3993312 | LAMA2 | c.3594A>G (p.Val1198=) c.3858A>G (p.Val1286=) c.3864A>G (p.Val1288=) c.1989A>G (p.Val663=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315514A>T | CA451936712 | LAMA2 | c.3594A>T (p.Val1198=) c.3858A>T (p.Val1286=) c.3864A>T (p.Val1288=) c.1989A>T (p.Val663=) | |
| 6 | g.129315515G>A | CA365612704 | LAMA2 | c.3595G>A (p.Asp1199Asn) c.3859G>A (p.Asp1287Asn) c.3865G>A (p.Asp1289Asn) c.1990G>A (p.Asp664Asn) | |
| 6 | g.129315515G>C | CA365612701 | LAMA2 | c.3595G>C (p.Asp1199His) c.3859G>C (p.Asp1287His) c.3865G>C (p.Asp1289His) c.1990G>C (p.Asp664His) | |
| 6 | g.129315515G>T | CA365612702 | LAMA2 | c.3595G>T (p.Asp1199Tyr) c.3859G>T (p.Asp1287Tyr) c.3865G>T (p.Asp1289Tyr) c.1990G>T (p.Asp664Tyr) | |
| 6 | g.129315516A= | CA1663079702 | LAMA2 | c.3596A= (p.Asp1199=) c.3860A= (p.Asp1287=) c.3866A= (p.Asp1289=) c.1991A= (p.Asp664=) | |
| 6 | g.129315516A>C | CA365612706 | LAMA2 | c.3596A>C (p.Asp1199Ala) c.3860A>C (p.Asp1287Ala) c.3866A>C (p.Asp1289Ala) c.1991A>C (p.Asp664Ala) | gnomAD v4 |
| 6 | g.129315516A>G | CA365612707 | LAMA2 | c.3596A>G (p.Asp1199Gly) c.3860A>G (p.Asp1287Gly) c.3866A>G (p.Asp1289Gly) c.1991A>G (p.Asp664Gly) | |
| 6 | g.129315516A>T | CA365612708 | LAMA2 | c.3596A>T (p.Asp1199Val) c.3860A>T (p.Asp1287Val) c.3866A>T (p.Asp1289Val) c.1991A>T (p.Asp664Val) | dbSNP gnomAD v4 |
| 6 | g.129315517T>A | CA365612709 | LAMA2 | c.3597T>A (p.Asp1199Glu) c.3861T>A (p.Asp1287Glu) c.3867T>A (p.Asp1289Glu) c.1992T>A (p.Asp664Glu) | |
| 6 | g.129315517T>C | CA3993313 | LAMA2 | c.3597T>C (p.Asp1199=) c.3861T>C (p.Asp1287=) c.3867T>C (p.Asp1289=) c.1992T>C (p.Asp664=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315517T>G | CA365612711 | LAMA2 | c.3597T>G (p.Asp1199Glu) c.3861T>G (p.Asp1287Glu) c.3867T>G (p.Asp1289Glu) c.1992T>G (p.Asp664Glu) | |
| 6 | g.129315517T= | CA1663079708 | LAMA2 | c.3597T= (p.Asp1199=) c.3861T= (p.Asp1287=) c.3867T= (p.Asp1289=) c.1992T= (p.Asp664=) | |
| 6 | g.129315518G>A | CA365612713 | LAMA2 | c.3598G>A (p.Glu1200Lys) c.3862G>A (p.Glu1288Lys) c.3868G>A (p.Glu1290Lys) c.1993G>A (p.Glu665Lys) | dbSNP gnomAD v4 |
| 6 | g.129315518G>C | CA365612715 | LAMA2 | c.3598G>C (p.Glu1200Gln) c.3862G>C (p.Glu1288Gln) c.3868G>C (p.Glu1290Gln) c.1993G>C (p.Glu665Gln) | |
| 6 | g.129315518G= | CA1663079710 | LAMA2 | c.3598G= (p.Glu1200=) c.3862G= (p.Glu1288=) c.3868G= (p.Glu1290=) c.1993G= (p.Glu665=) | |
| 6 | g.129315518G>T | CA365612716 | LAMA2 | c.3598G>T (p.Glu1200Ter) c.3862G>T (p.Glu1288Ter) c.3868G>T (p.Glu1290Ter) c.1993G>T (p.Glu665Ter) | |
| 6 | g.129315519A>C | CA365612717 | LAMA2 | c.3599A>C (p.Glu1200Ala) c.3863A>C (p.Glu1288Ala) c.3869A>C (p.Glu1290Ala) c.1994A>C (p.Glu665Ala) | |
| 6 | g.129315519A>G | CA365612719 | LAMA2 | c.3599A>G (p.Glu1200Gly) c.3863A>G (p.Glu1288Gly) c.3869A>G (p.Glu1290Gly) c.1994A>G (p.Glu665Gly) | |
| 6 | g.129315519A>T | CA365612720 | LAMA2 | c.3599A>T (p.Glu1200Val) c.3863A>T (p.Glu1288Val) c.3869A>T (p.Glu1290Val) c.1994A>T (p.Glu665Val) | |
| 6 | g.129315520G>A | CA451936713 | LAMA2 | c.3600G>A (p.Glu1200=) c.3864G>A (p.Glu1288=) c.3870G>A (p.Glu1290=) c.1995G>A (p.Glu665=) | gnomAD v4 COSMIC |
| 6 | g.129315520G>C | CA365612722 | LAMA2 | c.3600G>C (p.Glu1200Asp) c.3864G>C (p.Glu1288Asp) c.3870G>C (p.Glu1290Asp) c.1995G>C (p.Glu665Asp) | |
| 6 | g.129315520G>T | CA365612724 | LAMA2 | c.3600G>T (p.Glu1200Asp) c.3864G>T (p.Glu1288Asp) c.3870G>T (p.Glu1290Asp) c.1995G>T (p.Glu665Asp) | gnomAD v4 |
| 6 | g.129315521G>A | CA365612725 | LAMA2 | c.3601G>A (p.Ala1201Thr) c.3865G>A (p.Ala1289Thr) c.3871G>A (p.Ala1291Thr) c.1996G>A (p.Ala666Thr) | gnomAD v4 |
| 6 | g.129315521G>C | CA365612726 | LAMA2 | c.3601G>C (p.Ala1201Pro) c.3865G>C (p.Ala1289Pro) c.3871G>C (p.Ala1291Pro) c.1996G>C (p.Ala666Pro) | |
| 6 | g.129315521G= | CA1663079714 | LAMA2 | c.3601G= (p.Ala1201=) c.3865G= (p.Ala1289=) c.3871G= (p.Ala1291=) c.1996G= (p.Ala666=) | |
| 6 | g.129315521G>T | CA3993314 | LAMA2 | c.3601G>T (p.Ala1201Ser) c.3865G>T (p.Ala1289Ser) c.3871G>T (p.Ala1291Ser) c.1996G>T (p.Ala666Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315522C>A | CA365612728 | LAMA2 | c.3602C>A (p.Ala1201Asp) c.3866C>A (p.Ala1289Asp) c.3872C>A (p.Ala1291Asp) c.1997C>A (p.Ala666Asp) | |
| 6 | g.129315522C= | CA1663079717 | LAMA2 | c.3602C= (p.Ala1201=) c.3866C= (p.Ala1289=) c.3872C= (p.Ala1291=) c.1997C= (p.Ala666=) | |
| 6 | g.129315522C>G | CA365612731 | LAMA2 | c.3602C>G (p.Ala1201Gly) c.3866C>G (p.Ala1289Gly) c.3872C>G (p.Ala1291Gly) c.1997C>G (p.Ala666Gly) | |
| 6 | g.129315522C>T | CA365612729 | LAMA2 | c.3602C>T (p.Ala1201Val) c.3866C>T (p.Ala1289Val) c.3872C>T (p.Ala1291Val) c.1997C>T (p.Ala666Val) | ClinVar dbSNP |
| 6 | g.129315523T>A | CA451936714 | LAMA2 | c.3603T>A (p.Ala1201=) c.3867T>A (p.Ala1289=) c.3873T>A (p.Ala1291=) c.1998T>A (p.Ala666=) | |
| 6 | g.129315523T>C | CA451936715 | LAMA2 | c.3603T>C (p.Ala1201=) c.3867T>C (p.Ala1289=) c.3873T>C (p.Ala1291=) c.1998T>C (p.Ala666=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315523T>G | CA451936716 | LAMA2 | c.3603T>G (p.Ala1201=) c.3867T>G (p.Ala1289=) c.3873T>G (p.Ala1291=) c.1998T>G (p.Ala666=) | |
| 6 | g.129315523T= | CA1663079721 | LAMA2 | c.3603T= (p.Ala1201=) c.3867T= (p.Ala1289=) c.3873T= (p.Ala1291=) c.1998T= (p.Ala666=) | |
| 6 | g.129315524C>A | CA365612732 | LAMA2 | c.3604C>A (p.Leu1202Met) c.3868C>A (p.Leu1290Met) c.3874C>A (p.Leu1292Met) c.1999C>A (p.Leu667Met) | |
| 6 | g.129315524C= | CA1663079726 | LAMA2 | c.3604C= (p.Leu1202=) c.3868C= (p.Leu1290=) c.3874C= (p.Leu1292=) c.1999C= (p.Leu667=) | |
| 6 | g.129315524C>G | CA3993315 | LAMA2 | c.3604C>G (p.Leu1202Val) c.3868C>G (p.Leu1290Val) c.3874C>G (p.Leu1292Val) c.1999C>G (p.Leu667Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315524C>T | CA451936717 | LAMA2 | c.3604C>T (p.Leu1202=) c.3868C>T (p.Leu1290=) c.3874C>T (p.Leu1292=) c.1999C>T (p.Leu667=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129315525T>A | CA365612734 | LAMA2 | c.3605T>A (p.Leu1202Gln) c.3869T>A (p.Leu1290Gln) c.3875T>A (p.Leu1292Gln) c.2000T>A (p.Leu667Gln) | |
| 6 | g.129315525T>C | CA365612736 | LAMA2 | c.3605T>C (p.Leu1202Pro) c.3869T>C (p.Leu1290Pro) c.3875T>C (p.Leu1292Pro) c.2000T>C (p.Leu667Pro) | dbSNP |
| 6 | g.129315525T>G | CA365612737 | LAMA2 | c.3605T>G (p.Leu1202Arg) c.3869T>G (p.Leu1290Arg) c.3875T>G (p.Leu1292Arg) c.2000T>G (p.Leu667Arg) | |
| 6 | g.129315525T= | CA1663079734 | LAMA2 | c.3605T= (p.Leu1202=) c.3869T= (p.Leu1290=) c.3875T= (p.Leu1292=) c.2000T= (p.Leu667=) | |
| 6 | g.129315526G>A | CA451936718 | LAMA2 | c.3606G>A (p.Leu1202=) c.3870G>A (p.Leu1290=) c.3876G>A (p.Leu1292=) c.2001G>A (p.Leu667=) | |
| 6 | g.129315526G>C | CA451936719 | LAMA2 | c.3606G>C (p.Leu1202=) c.3870G>C (p.Leu1290=) c.3876G>C (p.Leu1292=) c.2001G>C (p.Leu667=) | |
| 6 | g.129315526G>T | CA451936720 | LAMA2 | c.3606G>T (p.Leu1202=) c.3870G>T (p.Leu1290=) c.3876G>T (p.Leu1292=) c.2001G>T (p.Leu667=) | COSMIC |
| 6 | g.129315527C>A | CA3993316 | LAMA2 | c.3607C>A (p.Gln1203Lys) c.3871C>A (p.Gln1291Lys) c.3877C>A (p.Gln1293Lys) c.2002C>A (p.Gln668Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315527C= | CA1663079739 | LAMA2 | c.3607C= (p.Gln1203=) c.3871C= (p.Gln1291=) c.3877C= (p.Gln1293=) c.2002C= (p.Gln668=) | |
| 6 | g.129315527C>G | CA365612739 | LAMA2 | c.3607C>G (p.Gln1203Glu) c.3871C>G (p.Gln1291Glu) c.3877C>G (p.Gln1293Glu) c.2002C>G (p.Gln668Glu) | |
| 6 | g.129315527C>T | CA365612741 | LAMA2 | c.3607C>T (p.Gln1203Ter) c.3871C>T (p.Gln1291Ter) c.3877C>T (p.Gln1293Ter) c.2002C>T (p.Gln668Ter) | ClinVar gnomAD v4 |
| 6 | g.129315528A= | CA1663079745 | LAMA2 | c.3608A= (p.Gln1203=) c.3872A= (p.Gln1291=) c.3878A= (p.Gln1293=) c.2003A= (p.Gln668=) | |
| 6 | g.129315528A>C | CA365612743 | LAMA2 | c.3608A>C (p.Gln1203Pro) c.3872A>C (p.Gln1291Pro) c.3878A>C (p.Gln1293Pro) c.2003A>C (p.Gln668Pro) | |
| 6 | g.129315528A>G | CA365612744 | LAMA2 | c.3608A>G (p.Gln1203Arg) c.3872A>G (p.Gln1291Arg) c.3878A>G (p.Gln1293Arg) c.2003A>G (p.Gln668Arg) | |
| 6 | g.129315528A>T | CA365612746 | LAMA2 | c.3608A>T (p.Gln1203Leu) c.3872A>T (p.Gln1291Leu) c.3878A>T (p.Gln1293Leu) c.2003A>T (p.Gln668Leu) | dbSNP |