| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129342287del | CA2680324635 | LAMA2 | c.4312-56del (n.4312-56del) c.4576-56del (n.4576-56del) c.4582-56del (n.4582-56del) c.2707-56del (n.2707-56del) | gnomAD v4 |
| 6 | g.129342287T>G | CA146901451 | LAMA2 | c.4312-56T>G (n.4312-56T>G) c.4576-56T>G (n.4576-56T>G) c.4582-56T>G (n.4582-56T>G) c.2707-56T>G (n.2707-56T>G) | dbSNP gnomAD v4 |
| 6 | g.129342287T= | CA1663123057 | LAMA2 | c.4312-56T= (n.4312-56T=) c.4576-56T= (n.4576-56T=) c.4582-56T= (n.4582-56T=) c.2707-56T= (n.2707-56T=) | |
| 6 | g.129342288A= | CA1663123060 | LAMA2 | c.4312-55A= (n.4312-55A=) c.4576-55A= (n.4576-55A=) c.4582-55A= (n.4582-55A=) c.2707-55A= (n.2707-55A=) | |
| 6 | g.129342288A>G | CA146901453 | LAMA2 | c.4312-55A>G (n.4312-55A>G) c.4576-55A>G (n.4576-55A>G) c.4582-55A>G (n.4582-55A>G) c.2707-55A>G (n.2707-55A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342289C>A | CA2680324636 | LAMA2 | c.4312-54C>A (n.4312-54C>A) c.4576-54C>A (n.4576-54C>A) c.4582-54C>A (n.4582-54C>A) c.2707-54C>A (n.2707-54C>A) | gnomAD v4 |
| 6 | g.129342290A= | CA1663123063 | LAMA2 | c.4312-53A= (n.4312-53A=) c.4576-53A= (n.4576-53A=) c.4582-53A= (n.4582-53A=) c.2707-53A= (n.2707-53A=) | |
| 6 | g.129342290A>C | CA2680324637 | LAMA2 | c.4312-53A>C (n.4312-53A>C) c.4576-53A>C (n.4576-53A>C) c.4582-53A>C (n.4582-53A>C) c.2707-53A>C (n.2707-53A>C) | gnomAD v4 |
| 6 | g.129342290A>G | CA1094383240 | LAMA2 | c.4312-53A>G (n.4312-53A>G) c.4576-53A>G (n.4576-53A>G) c.4582-53A>G (n.4582-53A>G) c.2707-53A>G (n.2707-53A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129342292T>C | CA2680324638 | LAMA2 | c.4312-51T>C (n.4312-51T>C) c.4576-51T>C (n.4576-51T>C) c.4582-51T>C (n.4582-51T>C) c.2707-51T>C (n.2707-51T>C) | gnomAD v4 |
| 6 | g.129342293C>A | CA2680324640 | LAMA2 | c.4312-50C>A (n.4312-50C>A) c.4576-50C>A (n.4576-50C>A) c.4582-50C>A (n.4582-50C>A) c.2707-50C>A (n.2707-50C>A) | gnomAD v4 |
| 6 | g.129342296_129342299del | CA2680324639 | LAMA2 | c.4312-47_4312-44del (n.4312-47_4312-44del) c.4576-47_4576-44del (n.4576-47_4576-44del) c.4582-47_4582-44del (n.4582-47_4582-44del) c.2707-47_2707-44del (n.2707-47_2707-44del) | gnomAD v4 |
| 6 | g.129342294T>C | CA1663123068 | LAMA2 | c.4312-49T>C (n.4312-49T>C) c.4576-49T>C (n.4576-49T>C) c.4582-49T>C (n.4582-49T>C) c.2707-49T>C (n.2707-49T>C) | dbSNP gnomAD v4 |
| 6 | g.129342294T= | CA1663123067 | LAMA2 | c.4312-49T= (n.4312-49T=) c.4576-49T= (n.4576-49T=) c.4582-49T= (n.4582-49T=) c.2707-49T= (n.2707-49T=) | |
| 6 | g.129342297C>A | CA2578737211 | LAMA2 | c.4312-46C>A (n.4312-46C>A) c.4576-46C>A (n.4576-46C>A) c.4582-46C>A (n.4582-46C>A) c.2707-46C>A (n.2707-46C>A) | gnomAD v4 |
| 6 | g.129342298T>C | CA2680324641 | LAMA2 | c.4312-45T>C (n.4312-45T>C) c.4576-45T>C (n.4576-45T>C) c.4582-45T>C (n.4582-45T>C) c.2707-45T>C (n.2707-45T>C) | gnomAD v4 |
| 6 | g.129342298_129342299insTAA | CA2680324642 | LAMA2 | c.4312-45_4312-44insTAA (n.4312-45_4312-44insTAA) c.4576-45_4576-44insTAA (n.4576-45_4576-44insTAA) c.4582-45_4582-44insTAA (n.4582-45_4582-44insTAA) c.2707-45_2707-44insTAA (n.2707-45_2707-44insTAA) | gnomAD v4 |
| 6 | g.129342299A>G | CA2680324643 | LAMA2 | c.4312-44A>G (n.4312-44A>G) c.4576-44A>G (n.4576-44A>G) c.4582-44A>G (n.4582-44A>G) c.2707-44A>G (n.2707-44A>G) | gnomAD v4 |
| 6 | g.129342300_129342301insACA | CA2680324644 | LAMA2 | c.4312-43_4312-42insACA (n.4312-43_4312-42insACA) c.4576-43_4576-42insACA (n.4576-43_4576-42insACA) c.4582-43_4582-42insACA (n.4582-43_4582-42insACA) c.2707-43_2707-42insACA (n.2707-43_2707-42insACA) | gnomAD v4 |
| 6 | g.129342301C>A | CA2680324645 | LAMA2 | c.4312-42C>A (n.4312-42C>A) c.4576-42C>A (n.4576-42C>A) c.4582-42C>A (n.4582-42C>A) c.2707-42C>A (n.2707-42C>A) | gnomAD v4 |
| 6 | g.129342302A= | CA1663123072 | LAMA2 | c.4312-41A= (n.4312-41A=) c.4576-41A= (n.4576-41A=) c.4582-41A= (n.4582-41A=) c.2707-41A= (n.2707-41A=) | |
| 6 | g.129342302A>C | CA3993512 | LAMA2 | c.4312-41A>C (n.4312-41A>C) c.4576-41A>C (n.4576-41A>C) c.4582-41A>C (n.4582-41A>C) c.2707-41A>C (n.2707-41A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342302A>G | CA570044344 | LAMA2 | c.4312-41A>G (n.4312-41A>G) c.4576-41A>G (n.4576-41A>G) c.4582-41A>G (n.4582-41A>G) c.2707-41A>G (n.2707-41A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129342303C>A | CA2680324646 | LAMA2 | c.4312-40C>A (n.4312-40C>A) c.4576-40C>A (n.4576-40C>A) c.4582-40C>A (n.4582-40C>A) c.2707-40C>A (n.2707-40C>A) | gnomAD v4 |
| 6 | g.129342306A= | CA1663123081 | LAMA2 | c.4312-37A= (n.4312-37A=) c.4576-37A= (n.4576-37A=) c.4582-37A= (n.4582-37A=) c.2707-37A= (n.2707-37A=) | |
| 6 | g.129342306A>C | CA3993513 | LAMA2 | c.4312-37A>C (n.4312-37A>C) c.4576-37A>C (n.4576-37A>C) c.4582-37A>C (n.4582-37A>C) c.2707-37A>C (n.2707-37A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342307A= | CA1663123082 | LAMA2 | c.4312-36A= (n.4312-36A=) c.4576-36A= (n.4576-36A=) c.4582-36A= (n.4582-36A=) c.2707-36A= (n.2707-36A=) | |
| 6 | g.129342307A>G | CA3993514 | LAMA2 | c.4312-36A>G (n.4312-36A>G) c.4576-36A>G (n.4576-36A>G) c.4582-36A>G (n.4582-36A>G) c.2707-36A>G (n.2707-36A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342308T>A | CA2680324647 | LAMA2 | c.4312-35T>A (n.4312-35T>A) c.4576-35T>A (n.4576-35T>A) c.4582-35T>A (n.4582-35T>A) c.2707-35T>A (n.2707-35T>A) | gnomAD v4 |
| 6 | g.129342309T>G | CA3993515 | LAMA2 | c.4312-34T>G (n.4312-34T>G) c.4576-34T>G (n.4576-34T>G) c.4582-34T>G (n.4582-34T>G) c.2707-34T>G (n.2707-34T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342309T= | CA1663123084 | LAMA2 | c.4312-34T= (n.4312-34T=) c.4576-34T= (n.4576-34T=) c.4582-34T= (n.4582-34T=) c.2707-34T= (n.2707-34T=) | |
| 6 | g.129342310A= | CA1663123090 | LAMA2 | c.4312-33A= (n.4312-33A=) c.4576-33A= (n.4576-33A=) c.4582-33A= (n.4582-33A=) c.2707-33A= (n.2707-33A=) | |
| 6 | g.129342310A>C | CA3993516 | LAMA2 | c.4312-33A>C (n.4312-33A>C) c.4576-33A>C (n.4576-33A>C) c.4582-33A>C (n.4582-33A>C) c.2707-33A>C (n.2707-33A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342310A>G | CA3993517 | LAMA2 | c.4312-33A>G (n.4312-33A>G) c.4576-33A>G (n.4576-33A>G) c.4582-33A>G (n.4582-33A>G) c.2707-33A>G (n.2707-33A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342311A= | CA1663123093 | LAMA2 | c.4312-32A= (n.4312-32A=) c.4576-32A= (n.4576-32A=) c.4582-32A= (n.4582-32A=) c.2707-32A= (n.2707-32A=) | |
| 6 | g.129342311A>G | CA146901509 | LAMA2 | c.4312-32A>G (n.4312-32A>G) c.4576-32A>G (n.4576-32A>G) c.4582-32A>G (n.4582-32A>G) c.2707-32A>G (n.2707-32A>G) | dbSNP |
| 6 | g.129342312A>T | CA2680324648 | LAMA2 | c.4312-31A>T (n.4312-31A>T) c.4576-31A>T (n.4576-31A>T) c.4582-31A>T (n.4582-31A>T) c.2707-31A>T (n.2707-31A>T) | gnomAD v4 |
| 6 | g.129342316A= | CA1663123094 | LAMA2 | c.4312-27A= (n.4312-27A=) c.4576-27A= (n.4576-27A=) c.4582-27A= (n.4582-27A=) c.2707-27A= (n.2707-27A=) | |
| 6 | g.129342316A>G | CA3993518 | LAMA2 | c.4312-27A>G (n.4312-27A>G) c.4576-27A>G (n.4576-27A>G) c.4582-27A>G (n.4582-27A>G) c.2707-27A>G (n.2707-27A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342317A>T | CA2680324649 | LAMA2 | c.4312-26A>T (n.4312-26A>T) c.4576-26A>T (n.4576-26A>T) c.4582-26A>T (n.4582-26A>T) c.2707-26A>T (n.2707-26A>T) | gnomAD v4 |
| 6 | g.129342318_129342321delinsACTT | CA1663123096 | LAMA2 | c.4312-25_4312-22delinsACTT (n.4312-25_4312-22delinsACTT) c.4576-25_4576-22delinsACTT (n.4576-25_4576-22delinsACTT) c.4582-25_4582-22delinsACTT (n.4582-25_4582-22delinsACTT) c.2707-25_2707-22delinsACTT (n.2707-25_2707-22delinsACTT) | |
| 6 | g.129342319C= | CA1663123103 | LAMA2 | c.4312-24C= (n.4312-24C=) c.4576-24C= (n.4576-24C=) c.4582-24C= (n.4582-24C=) c.2707-24C= (n.2707-24C=) | |
| 6 | g.129342319C>T | CA3993519 | LAMA2 | c.4312-24C>T (n.4312-24C>T) c.4576-24C>T (n.4576-24C>T) c.4582-24C>T (n.4582-24C>T) c.2707-24C>T (n.2707-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342324_129342326del | CA220769 | LAMA2 | c.4312-19_4312-17del (n.4312-19_4312-17del) c.4576-19_4576-17del (n.4576-19_4576-17del) c.4582-19_4582-17del (n.4582-19_4582-17del) c.2707-19_2707-17del (n.2707-19_2707-17del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342321T>A | CA2578737212 | LAMA2 | c.4312-22T>A (n.4312-22T>A) c.4576-22T>A (n.4576-22T>A) c.4582-22T>A (n.4582-22T>A) c.2707-22T>A (n.2707-22T>A) | |
| 6 | g.129342323T>G | CA2680324650 | LAMA2 | c.4312-20T>G (n.4312-20T>G) c.4576-20T>G (n.4576-20T>G) c.4582-20T>G (n.4582-20T>G) c.2707-20T>G (n.2707-20T>G) | gnomAD v4 |
| 6 | g.129342324T>C | CA2680324651 | LAMA2 | c.4312-19T>C (n.4312-19T>C) c.4576-19T>C (n.4576-19T>C) c.4582-19T>C (n.4582-19T>C) c.2707-19T>C (n.2707-19T>C) | gnomAD v4 |
| 6 | g.129342325C>T | CA2739266101 | LAMA2 | c.4312-18C>T (n.4312-18C>T) c.4576-18C>T (n.4576-18C>T) c.4582-18C>T (n.4582-18C>T) c.2707-18C>T (n.2707-18C>T) | ClinVar |
| 6 | g.129342326_129342327delinsTC | CA1663123118 | LAMA2 | c.4312-17_4312-16delinsTC (n.4312-17_4312-16delinsTC) c.4576-17_4576-16delinsTC (n.4576-17_4576-16delinsTC) c.4582-17_4582-16delinsTC (n.4582-17_4582-16delinsTC) c.2707-17_2707-16delinsTC (n.2707-17_2707-16delinsTC) | |
| 6 | g.129342327C= | CA1663123122 | LAMA2 | c.4312-16C= (n.4312-16C=) c.4576-16C= (n.4576-16C=) c.4582-16C= (n.4582-16C=) c.2707-16C= (n.2707-16C=) | |
| 6 | g.129342327C>T | CA3993520 | LAMA2 | c.4312-16C>T (n.4312-16C>T) c.4576-16C>T (n.4576-16C>T) c.4582-16C>T (n.4582-16C>T) c.2707-16C>T (n.2707-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342329del | CA818836843 | LAMA2 | c.4312-14del (n.4312-14del) c.4576-14del (n.4576-14del) c.4582-14del (n.4582-14del) c.2707-14del (n.2707-14del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129342328C= | CA1663123126 | LAMA2 | c.4312-15C= (n.4312-15C=) c.4576-15C= (n.4576-15C=) c.4582-15C= (n.4582-15C=) c.2707-15C= (n.2707-15C=) | |
| 6 | g.129342328C>T | CA570044360 | LAMA2 | c.4312-15C>T (n.4312-15C>T) c.4576-15C>T (n.4576-15C>T) c.4582-15C>T (n.4582-15C>T) c.2707-15C>T (n.2707-15C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129342329C= | CA1663123127 | LAMA2 | c.4312-14C= (n.4312-14C=) c.4576-14C= (n.4576-14C=) c.4582-14C= (n.4582-14C=) c.2707-14C= (n.2707-14C=) | |
| 6 | g.129342329C>T | CA1663123128 | LAMA2 | c.4312-14C>T (n.4312-14C>T) c.4576-14C>T (n.4576-14C>T) c.4582-14C>T (n.4582-14C>T) c.2707-14C>T (n.2707-14C>T) | dbSNP |
| 6 | g.129342330T>C | CA2680324653 | LAMA2 | c.4312-13T>C (n.4312-13T>C) c.4576-13T>C (n.4576-13T>C) c.4582-13T>C (n.4582-13T>C) c.2707-13T>C (n.2707-13T>C) | gnomAD v4 |
| 6 | g.129342332_129342333dup | CA2712983420 | LAMA2 | c.4312-11_4312-10dup (n.4312-11_4312-10dup) c.4576-11_4576-10dup (n.4576-11_4576-10dup) c.4582-11_4582-10dup (n.4582-11_4582-10dup) c.2707-11_2707-10dup (n.2707-11_2707-10dup) | dbSNP |
| 6 | g.129342333del | CA2680324652 | LAMA2 | c.4312-10del (n.4312-10del) c.4576-10del (n.4576-10del) c.4582-10del (n.4582-10del) c.2707-10del (n.2707-10del) | gnomAD v4 |
| 6 | g.129342331T>C | CA3993521 | LAMA2 | c.4312-12T>C (n.4312-12T>C) c.4576-12T>C (n.4576-12T>C) c.4582-12T>C (n.4582-12T>C) c.2707-12T>C (n.2707-12T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342331T= | CA1663123130 | LAMA2 | c.4312-12T= (n.4312-12T=) c.4576-12T= (n.4576-12T=) c.4582-12T= (n.4582-12T=) c.2707-12T= (n.2707-12T=) | |
| 6 | g.129342332T>C | CA2578737213 | LAMA2 | c.4312-11T>C (n.4312-11T>C) c.4576-11T>C (n.4576-11T>C) c.4582-11T>C (n.4582-11T>C) c.2707-11T>C (n.2707-11T>C) | gnomAD v4 |
| 6 | g.129342333T>G | CA2680324654 | LAMA2 | c.4312-10T>G (n.4312-10T>G) c.4576-10T>G (n.4576-10T>G) c.4582-10T>G (n.4582-10T>G) c.2707-10T>G (n.2707-10T>G) | gnomAD v4 |
| 6 | g.129342333_129342334delinsTC | CA1663123133 | LAMA2 | c.4312-10_4312-9delinsTC (n.4312-10_4312-9delinsTC) c.4576-10_4576-9delinsTC (n.4576-10_4576-9delinsTC) c.4582-10_4582-9delinsTC (n.4582-10_4582-9delinsTC) c.2707-10_2707-9delinsTC (n.2707-10_2707-9delinsTC) | |
| 6 | g.129342335del | CA570044363 | LAMA2 | c.4312-8del (n.4312-8del) c.4576-8del (n.4576-8del) c.4582-8del (n.4582-8del) c.2707-8del (n.2707-8del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129342335C>G | CA2580074933 | LAMA2 | c.4312-8C>G (n.4312-8C>G) c.4576-8C>G (n.4576-8C>G) c.4582-8C>G (n.4582-8C>G) c.2707-8C>G (n.2707-8C>G) | ClinVar |
| 6 | g.129342336T>C | CA2680324655 | LAMA2 | c.4312-7T>C (n.4312-7T>C) c.4576-7T>C (n.4576-7T>C) c.4582-7T>C (n.4582-7T>C) c.2707-7T>C (n.2707-7T>C) | gnomAD v4 |
| 6 | g.129342339A>G | CA2739266102 | LAMA2 | c.4312-4A>G (n.4312-4A>G) c.4576-4A>G (n.4576-4A>G) c.4582-4A>G (n.4582-4A>G) c.2707-4A>G (n.2707-4A>G) | ClinVar |
| 6 | g.129342340C>A | CA2680324656 | LAMA2 | c.4312-3C>A (n.4312-3C>A) c.4576-3C>A (n.4576-3C>A) c.4582-3C>A (n.4582-3C>A) c.2707-3C>A (n.2707-3C>A) | gnomAD v4 |
| 6 | g.129342340C>G | CA2695206990 | LAMA2 | c.4312-3C>G (n.4312-3C>G) c.4576-3C>G (n.4576-3C>G) c.4582-3C>G (n.4582-3C>G) c.2707-3C>G (n.2707-3C>G) | |
| 6 | g.129342341A>C | CA365615052 | LAMA2 | c.4312-2A>C (n.4312-2A>C) c.4576-2A>C (n.4576-2A>C) c.4582-2A>C (n.4582-2A>C) c.2707-2A>C (n.2707-2A>C) | |
| 6 | g.129342341A>G | CA365615051 | LAMA2 | c.4312-2A>G (n.4312-2A>G) c.4576-2A>G (n.4576-2A>G) c.4582-2A>G (n.4582-2A>G) c.2707-2A>G (n.2707-2A>G) | ClinVar dbSNP |
| 6 | g.129342341A>T | CA365615049 | LAMA2 | c.4312-2A>T (n.4312-2A>T) c.4576-2A>T (n.4576-2A>T) c.4582-2A>T (n.4582-2A>T) c.2707-2A>T (n.2707-2A>T) | |
| 6 | g.129342342G>A | CA365615055 | LAMA2 | c.4312-1G>A (n.4312-1G>A) c.4576-1G>A (n.4576-1G>A) c.4582-1G>A (n.4582-1G>A) c.2707-1G>A (n.2707-1G>A) | COSMIC |
| 6 | g.129342342G>C | CA365615057 | LAMA2 | c.4312-1G>C (n.4312-1G>C) c.4576-1G>C (n.4576-1G>C) c.4582-1G>C (n.4582-1G>C) c.2707-1G>C (n.2707-1G>C) | ClinVar dbSNP |
| 6 | g.129342342G= | CA1663123139 | LAMA2 | c.4312-1G= (n.4312-1G=) c.4576-1G= (n.4576-1G=) c.4582-1G= (n.4582-1G=) c.2707-1G= (n.2707-1G=) | |
| 6 | g.129342342G>T | CA365615058 | LAMA2 | c.4312-1G>T (n.4312-1G>T) c.4576-1G>T (n.4576-1G>T) c.4582-1G>T (n.4582-1G>T) c.2707-1G>T (n.2707-1G>T) | |
| 6 | g.129342343A>C | CA365615060 | LAMA2 | c.4312A>C (p.Asn1438His) c.4576A>C (p.Asn1526His) c.4582A>C (p.Asn1528His) c.2707A>C (p.Asn903His) | |
| 6 | g.129342343A>G | CA365615062 | LAMA2 | c.4312A>G (p.Asn1438Asp) c.4576A>G (p.Asn1526Asp) c.4582A>G (p.Asn1528Asp) c.2707A>G (p.Asn903Asp) | gnomAD v4 |
| 6 | g.129342343A>T | CA365615063 | LAMA2 | c.4312A>T (p.Asn1438Tyr) c.4576A>T (p.Asn1526Tyr) c.4582A>T (p.Asn1528Tyr) c.2707A>T (p.Asn903Tyr) | |
| 6 | g.129342344A>C | CA365615066 | LAMA2 | c.4313A>C (p.Asn1438Thr) c.4577A>C (p.Asn1526Thr) c.4583A>C (p.Asn1528Thr) c.2708A>C (p.Asn903Thr) | |
| 6 | g.129342344A>G | CA365615068 | LAMA2 | c.4313A>G (p.Asn1438Ser) c.4577A>G (p.Asn1526Ser) c.4583A>G (p.Asn1528Ser) c.2708A>G (p.Asn903Ser) | |
| 6 | g.129342344A>T | CA365615069 | LAMA2 | c.4313A>T (p.Asn1438Ile) c.4577A>T (p.Asn1526Ile) c.4583A>T (p.Asn1528Ile) c.2708A>T (p.Asn903Ile) | |
| 6 | g.129342345T>A | CA365615072 | LAMA2 | c.4314T>A (p.Asn1438Lys) c.4578T>A (p.Asn1526Lys) c.4584T>A (p.Asn1528Lys) c.2709T>A (p.Asn903Lys) | |
| 6 | g.129342345T>C | CA451925324 | LAMA2 | c.4314T>C (p.Asn1438=) c.4578T>C (p.Asn1526=) c.4584T>C (p.Asn1528=) c.2709T>C (p.Asn903=) | |
| 6 | g.129342345T>G | CA365615074 | LAMA2 | c.4314T>G (p.Asn1438Lys) c.4578T>G (p.Asn1526Lys) c.4584T>G (p.Asn1528Lys) c.2709T>G (p.Asn903Lys) | |
| 6 | g.129342345_129342346del | CA2680324657 | LAMA2 | c.4314_4315del (p.Asn1438LysfsTer8) c.4578_4579del (p.Asn1526LysfsTer8) c.4584_4585del (p.Asn1528LysfsTer8) c.2709_2710del (p.Asn903LysfsTer8) | gnomAD v4 |
| 6 | g.129342346T>A | CA365615076 | LAMA2 | c.4315T>A (p.Cys1439Ser) c.4579T>A (p.Cys1527Ser) c.4585T>A (p.Cys1529Ser) c.2710T>A (p.Cys904Ser) | |
| 6 | g.129342346T>C | CA365615078 | LAMA2 | c.4315T>C (p.Cys1439Arg) c.4579T>C (p.Cys1527Arg) c.4585T>C (p.Cys1529Arg) c.2710T>C (p.Cys904Arg) | |
| 6 | g.129342346T>G | CA365615079 | LAMA2 | c.4315T>G (p.Cys1439Gly) c.4579T>G (p.Cys1527Gly) c.4585T>G (p.Cys1529Gly) c.2710T>G (p.Cys904Gly) | |
| 6 | g.129342347G>A | CA365615082 | LAMA2 | c.4316G>A (p.Cys1439Tyr) c.4580G>A (p.Cys1527Tyr) c.4586G>A (p.Cys1529Tyr) c.2711G>A (p.Cys904Tyr) | |
| 6 | g.129342347G>C | CA365615084 | LAMA2 | c.4316G>C (p.Cys1439Ser) c.4580G>C (p.Cys1527Ser) c.4586G>C (p.Cys1529Ser) c.2711G>C (p.Cys904Ser) | |
| 6 | g.129342347G>T | CA365615080 | LAMA2 | c.4316G>T (p.Cys1439Phe) c.4580G>T (p.Cys1527Phe) c.4586G>T (p.Cys1529Phe) c.2711G>T (p.Cys904Phe) | |
| 6 | g.129342348T>A | CA365615085 | LAMA2 | c.4317T>A (p.Cys1439Ter) c.4581T>A (p.Cys1527Ter) c.4587T>A (p.Cys1529Ter) c.2712T>A (p.Cys904Ter) | |
| 6 | g.129342348T>C | CA451925338 | LAMA2 | c.4317T>C (p.Cys1439=) c.4581T>C (p.Cys1527=) c.4587T>C (p.Cys1529=) c.2712T>C (p.Cys904=) | |
| 6 | g.129342348T>G | CA365615087 | LAMA2 | c.4317T>G (p.Cys1439Trp) c.4581T>G (p.Cys1527Trp) c.4587T>G (p.Cys1529Trp) c.2712T>G (p.Cys904Trp) | |
| 6 | g.129342349C>A | CA365615090 | LAMA2 | c.4318C>A (p.Gln1440Lys) c.4582C>A (p.Gln1528Lys) c.4588C>A (p.Gln1530Lys) c.2713C>A (p.Gln905Lys) | |
| 6 | g.129342349C>G | CA365615091 | LAMA2 | c.4318C>G (p.Gln1440Glu) c.4582C>G (p.Gln1528Glu) c.4588C>G (p.Gln1530Glu) c.2713C>G (p.Gln905Glu) | COSMIC |
| 6 | g.129342349C>T | CA365615092 | LAMA2 | c.4318C>T (p.Gln1440Ter) c.4582C>T (p.Gln1528Ter) c.4588C>T (p.Gln1530Ter) c.2713C>T (p.Gln905Ter) | ClinVar dbSNP |
| 6 | g.129342351_129342353del | CA2773035748 | LAMA2 | c.4320_4322del (p.Gln1440del) c.4584_4586del (p.Gln1528del) c.4590_4592del (p.Gln1530del) c.2715_2717del (p.Gln905del) | |
| 6 | g.129342349_129342354delinsCAACAT | CA1663123150 | LAMA2 | c.4318_4323delinsCAACAT (p.Gln1440=) c.4582_4587delinsCAACAT (p.Gln1528=) c.4588_4593delinsCAACAT (p.Gln1530=) c.2713_2718delinsCAACAT (p.Gln905=) | |
| 6 | g.129342350A= | CA1663123156 | LAMA2 | c.4319A= (p.Gln1440=) c.4583A= (p.Gln1528=) c.4589A= (p.Gln1530=) c.2714A= (p.Gln905=) | |
| 6 | g.129342350A>C | CA365615095 | LAMA2 | c.4319A>C (p.Gln1440Pro) c.4583A>C (p.Gln1528Pro) c.4589A>C (p.Gln1530Pro) c.2714A>C (p.Gln905Pro) | |
| 6 | g.129342350A>G | CA365615096 | LAMA2 | c.4319A>G (p.Gln1440Arg) c.4583A>G (p.Gln1528Arg) c.4589A>G (p.Gln1530Arg) c.2714A>G (p.Gln905Arg) | dbSNP gnomAD v4 |
| 6 | g.129342350A>T | CA365615098 | LAMA2 | c.4319A>T (p.Gln1440Leu) c.4583A>T (p.Gln1528Leu) c.4589A>T (p.Gln1530Leu) c.2714A>T (p.Gln905Leu) | |
| 6 | g.129342350_129342354del | CA1663123153 | LAMA2 | c.4319_4323del (p.Gln1440ProfsTer5) c.4583_4587del (p.Gln1528ProfsTer5) c.4589_4593del (p.Gln1530ProfsTer5) c.2714_2718del (p.Gln905ProfsTer5) | ClinVar dbSNP |
| 6 | g.129342351A= | CA1663123163 | LAMA2 | c.4320A= (p.Gln1440=) c.4584A= (p.Gln1528=) c.4590A= (p.Gln1530=) c.2715A= (p.Gln905=) | |
| 6 | g.129342351A>C | CA365615100 | LAMA2 | c.4320A>C (p.Gln1440His) c.4584A>C (p.Gln1528His) c.4590A>C (p.Gln1530His) c.2715A>C (p.Gln905His) | COSMIC |
| 6 | g.129342351A>G | CA451925348 | LAMA2 | c.4320A>G (p.Gln1440=) c.4584A>G (p.Gln1528=) c.4590A>G (p.Gln1530=) c.2715A>G (p.Gln905=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129342351A>T | CA365615102 | LAMA2 | c.4320A>T (p.Gln1440His) c.4584A>T (p.Gln1528His) c.4590A>T (p.Gln1530His) c.2715A>T (p.Gln905His) | |
| 6 | g.129342352C>A | CA365615103 | LAMA2 | c.4321C>A (p.His1441Asn) c.4585C>A (p.His1529Asn) c.4591C>A (p.His1531Asn) c.2716C>A (p.His906Asn) | ClinVar dbSNP |
| 6 | g.129342352C= | CA1663123165 | LAMA2 | c.4321C= (p.His1441=) c.4585C= (p.His1529=) c.4591C= (p.His1531=) c.2716C= (p.His906=) | |
| 6 | g.129342352C>G | CA365615104 | LAMA2 | c.4321C>G (p.His1441Asp) c.4585C>G (p.His1529Asp) c.4591C>G (p.His1531Asp) c.2716C>G (p.His906Asp) | |
| 6 | g.129342352C>T | CA365615106 | LAMA2 | c.4321C>T (p.His1441Tyr) c.4585C>T (p.His1529Tyr) c.4591C>T (p.His1531Tyr) c.2716C>T (p.His906Tyr) | gnomAD v4 |
| 6 | g.129342353A= | CA1663123171 | LAMA2 | c.4322A= (p.His1441=) c.4586A= (p.His1529=) c.4592A= (p.His1531=) c.2717A= (p.His906=) | |
| 6 | g.129342353A>C | CA365615112 | LAMA2 | c.4322A>C (p.His1441Pro) c.4586A>C (p.His1529Pro) c.4592A>C (p.His1531Pro) c.2717A>C (p.His906Pro) | |
| 6 | g.129342353A>G | CA365615108 | LAMA2 | c.4322A>G (p.His1441Arg) c.4586A>G (p.His1529Arg) c.4592A>G (p.His1531Arg) c.2717A>G (p.His906Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342353A>T | CA365615110 | LAMA2 | c.4322A>T (p.His1441Leu) c.4586A>T (p.His1529Leu) c.4592A>T (p.His1531Leu) c.2717A>T (p.His906Leu) | |
| 6 | g.129342354T>A | CA3993522 | LAMA2 | c.4323T>A (p.His1441Gln) c.4587T>A (p.His1529Gln) c.4593T>A (p.His1531Gln) c.2718T>A (p.His906Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342354T>C | CA451925360 | LAMA2 | c.4323T>C (p.His1441=) c.4587T>C (p.His1529=) c.4593T>C (p.His1531=) c.2718T>C (p.His906=) | COSMIC |
| 6 | g.129342354T>G | CA365615115 | LAMA2 | c.4323T>G (p.His1441Gln) c.4587T>G (p.His1529Gln) c.4593T>G (p.His1531Gln) c.2718T>G (p.His906Gln) | |
| 6 | g.129342354T= | CA1663123178 | LAMA2 | c.4323T= (p.His1441=) c.4587T= (p.His1529=) c.4593T= (p.His1531=) c.2718T= (p.His906=) | |
| 6 | g.129342355C>A | CA365615117 | LAMA2 | c.4324C>A (p.His1442Asn) c.4588C>A (p.His1530Asn) c.4594C>A (p.His1532Asn) c.2719C>A (p.His907Asn) | |
| 6 | g.129342355C>G | CA365615119 | LAMA2 | c.4324C>G (p.His1442Asp) c.4588C>G (p.His1530Asp) c.4594C>G (p.His1532Asp) c.2719C>G (p.His907Asp) | |
| 6 | g.129342355C>T | CA365615121 | LAMA2 | c.4324C>T (p.His1442Tyr) c.4588C>T (p.His1530Tyr) c.4594C>T (p.His1532Tyr) c.2719C>T (p.His907Tyr) | gnomAD v4 |
| 6 | g.129342356A>C | CA365615123 | LAMA2 | c.4325A>C (p.His1442Pro) c.4589A>C (p.His1530Pro) c.4595A>C (p.His1532Pro) c.2720A>C (p.His907Pro) | |
| 6 | g.129342356A>G | CA365615124 | LAMA2 | c.4325A>G (p.His1442Arg) c.4589A>G (p.His1530Arg) c.4595A>G (p.His1532Arg) c.2720A>G (p.His907Arg) | |
| 6 | g.129342356A>T | CA365615126 | LAMA2 | c.4325A>T (p.His1442Leu) c.4589A>T (p.His1530Leu) c.4595A>T (p.His1532Leu) c.2720A>T (p.His907Leu) | |
| 6 | g.129342356_129342357delinsAC | CA1663123190 | LAMA2 | c.4325_4326delinsAC (p.His1442=) c.4589_4590delinsAC (p.His1530=) c.4595_4596delinsAC (p.His1532=) c.2720_2721delinsAC (p.His907=) | |
| 6 | g.129342357del | CA146901581 | LAMA2 | c.4326del (p.His1442GlnfsTer?) c.4590del (p.His1530GlnfsTer?) c.4596del (p.His1532GlnfsTer?) c.2721del (p.His907GlnfsTer?) | dbSNP |
| 6 | g.129342357C>A | CA365615128 | LAMA2 | c.4326C>A (p.His1442Gln) c.4590C>A (p.His1530Gln) c.4596C>A (p.His1532Gln) c.2721C>A (p.His907Gln) | gnomAD v4 |
| 6 | g.129342357C>G | CA365615129 | LAMA2 | c.4326C>G (p.His1442Gln) c.4590C>G (p.His1530Gln) c.4596C>G (p.His1532Gln) c.2721C>G (p.His907Gln) | |
| 6 | g.129342357C>T | CA451925370 | LAMA2 | c.4326C>T (p.His1442=) c.4590C>T (p.His1530=) c.4596C>T (p.His1532=) c.2721C>T (p.His907=) | |
| 6 | g.129342358A>C | CA365615132 | LAMA2 | c.4327A>C (p.Thr1443Pro) c.4591A>C (p.Thr1531Pro) c.4597A>C (p.Thr1533Pro) c.2722A>C (p.Thr908Pro) | |
| 6 | g.129342358A>G | CA365615134 | LAMA2 | c.4327A>G (p.Thr1443Ala) c.4591A>G (p.Thr1531Ala) c.4597A>G (p.Thr1533Ala) c.2722A>G (p.Thr908Ala) | |
| 6 | g.129342358A>T | CA365615133 | LAMA2 | c.4327A>T (p.Thr1443Ser) c.4591A>T (p.Thr1531Ser) c.4597A>T (p.Thr1533Ser) c.2722A>T (p.Thr908Ser) | |
| 6 | g.129342359C>A | CA365615137 | LAMA2 | c.4328C>A (p.Thr1443Asn) c.4592C>A (p.Thr1531Asn) c.4598C>A (p.Thr1533Asn) c.2723C>A (p.Thr908Asn) | |
| 6 | g.129342359C>G | CA365615139 | LAMA2 | c.4328C>G (p.Thr1443Ser) c.4592C>G (p.Thr1531Ser) c.4598C>G (p.Thr1533Ser) c.2723C>G (p.Thr908Ser) | |
| 6 | g.129342359C>T | CA365615138 | LAMA2 | c.4328C>T (p.Thr1443Ile) c.4592C>T (p.Thr1531Ile) c.4598C>T (p.Thr1533Ile) c.2723C>T (p.Thr908Ile) | gnomAD v4 |
| 6 | g.129342360T>A | CA451925382 | LAMA2 | c.4329T>A (p.Thr1443=) c.4593T>A (p.Thr1531=) c.4599T>A (p.Thr1533=) c.2724T>A (p.Thr908=) | |
| 6 | g.129342360T>C | CA3993523 | LAMA2 | c.4329T>C (p.Thr1443=) c.4593T>C (p.Thr1531=) c.4599T>C (p.Thr1533=) c.2724T>C (p.Thr908=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342360T>G | CA451925386 | LAMA2 | c.4329T>G (p.Thr1443=) c.4593T>G (p.Thr1531=) c.4599T>G (p.Thr1533=) c.2724T>G (p.Thr908=) | |
| 6 | g.129342360T= | CA1663123200 | LAMA2 | c.4329T= (p.Thr1443=) c.4593T= (p.Thr1531=) c.4599T= (p.Thr1533=) c.2724T= (p.Thr908=) | |
| 6 | g.129342361G>A | CA365615142 | LAMA2 | c.4330G>A (p.Ala1444Thr) c.4594G>A (p.Ala1532Thr) c.4600G>A (p.Ala1534Thr) c.2725G>A (p.Ala909Thr) | |
| 6 | g.129342361G>C | CA365615144 | LAMA2 | c.4330G>C (p.Ala1444Pro) c.4594G>C (p.Ala1532Pro) c.4600G>C (p.Ala1534Pro) c.2725G>C (p.Ala909Pro) | |
| 6 | g.129342361G>T | CA365615146 | LAMA2 | c.4330G>T (p.Ala1444Ser) c.4594G>T (p.Ala1532Ser) c.4600G>T (p.Ala1534Ser) c.2725G>T (p.Ala909Ser) | |
| 6 | g.129342362C>A | CA365615148 | LAMA2 | c.4331C>A (p.Ala1444Asp) c.4595C>A (p.Ala1532Asp) c.4601C>A (p.Ala1534Asp) c.2726C>A (p.Ala909Asp) | gnomAD v4 COSMIC |
| 6 | g.129342362C>G | CA365615149 | LAMA2 | c.4331C>G (p.Ala1444Gly) c.4595C>G (p.Ala1532Gly) c.4601C>G (p.Ala1534Gly) c.2726C>G (p.Ala909Gly) | |
| 6 | g.129342362C>T | CA365615151 | LAMA2 | c.4331C>T (p.Ala1444Val) c.4595C>T (p.Ala1532Val) c.4601C>T (p.Ala1534Val) c.2726C>T (p.Ala909Val) | |
| 6 | g.129342363T>A | CA451925397 | LAMA2 | c.4332T>A (p.Ala1444=) c.4596T>A (p.Ala1532=) c.4602T>A (p.Ala1534=) c.2727T>A (p.Ala909=) | |
| 6 | g.129342363T>C | CA146901590 | LAMA2 | c.4332T>C (p.Ala1444=) c.4596T>C (p.Ala1532=) c.4602T>C (p.Ala1534=) c.2727T>C (p.Ala909=) | ClinVar dbSNP |
| 6 | g.129342363T>G | CA451925393 | LAMA2 | c.4332T>G (p.Ala1444=) c.4596T>G (p.Ala1532=) c.4602T>G (p.Ala1534=) c.2727T>G (p.Ala909=) | |
| 6 | g.129342363T= | CA1663123203 | LAMA2 | c.4332T= (p.Ala1444=) c.4596T= (p.Ala1532=) c.4602T= (p.Ala1534=) c.2727T= (p.Ala909=) | |
| 6 | g.129342365_129342383dup | CA2739266103 | LAMA2 | c.4334_4352dup (p.Cys1451TrpfsTer2) c.4598_4616dup (p.Cys1539TrpfsTer2) c.4604_4622dup (p.Cys1541TrpfsTer2) c.2729_2747dup (p.Cys916TrpfsTer2) | ClinVar |
| 6 | g.129342364G>A | CA365615154 | LAMA2 | c.4333G>A (p.Gly1445Ser) c.4597G>A (p.Gly1533Ser) c.4603G>A (p.Gly1535Ser) c.2728G>A (p.Gly910Ser) | |
| 6 | g.129342364G>C | CA365615155 | LAMA2 | c.4333G>C (p.Gly1445Arg) c.4597G>C (p.Gly1533Arg) c.4603G>C (p.Gly1535Arg) c.2728G>C (p.Gly910Arg) | |
| 6 | g.129342364G>T | CA365615157 | LAMA2 | c.4333G>T (p.Gly1445Cys) c.4597G>T (p.Gly1533Cys) c.4603G>T (p.Gly1535Cys) c.2728G>T (p.Gly910Cys) | |
| 6 | g.129342365G>A | CA365615159 | LAMA2 | c.4334G>A (p.Gly1445Asp) c.4598G>A (p.Gly1533Asp) c.4604G>A (p.Gly1535Asp) c.2729G>A (p.Gly910Asp) | gnomAD v4 |
| 6 | g.129342365G>C | CA365615161 | LAMA2 | c.4334G>C (p.Gly1445Ala) c.4598G>C (p.Gly1533Ala) c.4604G>C (p.Gly1535Ala) c.2729G>C (p.Gly910Ala) | |
| 6 | g.129342365G>T | CA365615162 | LAMA2 | c.4334G>T (p.Gly1445Val) c.4598G>T (p.Gly1533Val) c.4604G>T (p.Gly1535Val) c.2729G>T (p.Gly910Val) | |
| 6 | g.129342366T>A | CA451925407 | LAMA2 | c.4335T>A (p.Gly1445=) c.4599T>A (p.Gly1533=) c.4605T>A (p.Gly1535=) c.2730T>A (p.Gly910=) | |
| 6 | g.129342366T>C | CA451925410 | LAMA2 | c.4335T>C (p.Gly1445=) c.4599T>C (p.Gly1533=) c.4605T>C (p.Gly1535=) c.2730T>C (p.Gly910=) | |
| 6 | g.129342366T>G | CA451925411 | LAMA2 | c.4335T>G (p.Gly1445=) c.4599T>G (p.Gly1533=) c.4605T>G (p.Gly1535=) c.2730T>G (p.Gly910=) | ClinVar dbSNP |
| 6 | g.129342367G>A | CA365615163 | LAMA2 | c.4336G>A (p.Asp1446Asn) c.4600G>A (p.Asp1534Asn) c.4606G>A (p.Asp1536Asn) c.2731G>A (p.Asp911Asn) | |
| 6 | g.129342367G>C | CA365615166 | LAMA2 | c.4336G>C (p.Asp1446His) c.4600G>C (p.Asp1534His) c.4606G>C (p.Asp1536His) c.2731G>C (p.Asp911His) | |
| 6 | g.129342367G>T | CA365615164 | LAMA2 | c.4336G>T (p.Asp1446Tyr) c.4600G>T (p.Asp1534Tyr) c.4606G>T (p.Asp1536Tyr) c.2731G>T (p.Asp911Tyr) | gnomAD v4 |
| 6 | g.129342368A= | CA1663123246 | LAMA2 | c.4337A= (p.Asp1446=) c.4601A= (p.Asp1534=) c.4607A= (p.Asp1536=) c.2732A= (p.Asp911=) | |
| 6 | g.129342368A>C | CA365615168 | LAMA2 | c.4337A>C (p.Asp1446Ala) c.4601A>C (p.Asp1534Ala) c.4607A>C (p.Asp1536Ala) c.2732A>C (p.Asp911Ala) | |
| 6 | g.129342368A>G | CA365615170 | LAMA2 | c.4337A>G (p.Asp1446Gly) c.4601A>G (p.Asp1534Gly) c.4607A>G (p.Asp1536Gly) c.2732A>G (p.Asp911Gly) | |
| 6 | g.129342368A>T | CA365615172 | LAMA2 | c.4337A>T (p.Asp1446Val) c.4601A>T (p.Asp1534Val) c.4607A>T (p.Asp1536Val) c.2732A>T (p.Asp911Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129342369C>A | CA365615174 | LAMA2 | c.4338C>A (p.Asp1446Glu) c.4602C>A (p.Asp1534Glu) c.4608C>A (p.Asp1536Glu) c.2733C>A (p.Asp911Glu) | |
| 6 | g.129342369C= | CA1663123248 | LAMA2 | c.4338C= (p.Asp1446=) c.4602C= (p.Asp1534=) c.4608C= (p.Asp1536=) c.2733C= (p.Asp911=) | |
| 6 | g.129342369C>G | CA365615176 | LAMA2 | c.4338C>G (p.Asp1446Glu) c.4602C>G (p.Asp1534Glu) c.4608C>G (p.Asp1536Glu) c.2733C>G (p.Asp911Glu) | |
| 6 | g.129342369C>T | CA3993524 | LAMA2 | c.4338C>T (p.Asp1446=) c.4602C>T (p.Asp1534=) c.4608C>T (p.Asp1536=) c.2733C>T (p.Asp911=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342370T>A | CA365615178 | LAMA2 | c.4339T>A (p.Phe1447Ile) c.4603T>A (p.Phe1535Ile) c.4609T>A (p.Phe1537Ile) c.2734T>A (p.Phe912Ile) | |
| 6 | g.129342370T>C | CA365615179 | LAMA2 | c.4339T>C (p.Phe1447Leu) c.4603T>C (p.Phe1535Leu) c.4609T>C (p.Phe1537Leu) c.2734T>C (p.Phe912Leu) | |
| 6 | g.129342370T>G | CA365615181 | LAMA2 | c.4339T>G (p.Phe1447Val) c.4603T>G (p.Phe1535Val) c.4609T>G (p.Phe1537Val) c.2734T>G (p.Phe912Val) | gnomAD v4 |
| 6 | g.129342371T>A | CA365615187 | LAMA2 | c.4340T>A (p.Phe1447Tyr) c.4604T>A (p.Phe1535Tyr) c.4610T>A (p.Phe1537Tyr) c.2735T>A (p.Phe912Tyr) | |
| 6 | g.129342371T>C | CA365615185 | LAMA2 | c.4340T>C (p.Phe1447Ser) c.4604T>C (p.Phe1535Ser) c.4610T>C (p.Phe1537Ser) c.2735T>C (p.Phe912Ser) | |
| 6 | g.129342371T>G | CA365615183 | LAMA2 | c.4340T>G (p.Phe1447Cys) c.4604T>G (p.Phe1535Cys) c.4610T>G (p.Phe1537Cys) c.2735T>G (p.Phe912Cys) | |
| 6 | g.129342372C>A | CA365615189 | LAMA2 | c.4341C>A (p.Phe1447Leu) c.4605C>A (p.Phe1535Leu) c.4611C>A (p.Phe1537Leu) c.2736C>A (p.Phe912Leu) | |
| 6 | g.129342372C= | CA1663123251 | LAMA2 | c.4341C= (p.Phe1447=) c.4605C= (p.Phe1535=) c.4611C= (p.Phe1537=) c.2736C= (p.Phe912=) | |
| 6 | g.129342372C>G | CA365615191 | LAMA2 | c.4341C>G (p.Phe1447Leu) c.4605C>G (p.Phe1535Leu) c.4611C>G (p.Phe1537Leu) c.2736C>G (p.Phe912Leu) | |
| 6 | g.129342372C>T | CA3993525 | LAMA2 | c.4341C>T (p.Phe1447=) c.4605C>T (p.Phe1535=) c.4611C>T (p.Phe1537=) c.2736C>T (p.Phe912=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342373T>A | CA365615194 | LAMA2 | c.4342T>A (p.Cys1448Ser) c.4606T>A (p.Cys1536Ser) c.4612T>A (p.Cys1538Ser) c.2737T>A (p.Cys913Ser) | |
| 6 | g.129342373T>C | CA365615196 | LAMA2 | c.4342T>C (p.Cys1448Arg) c.4606T>C (p.Cys1536Arg) c.4612T>C (p.Cys1538Arg) c.2737T>C (p.Cys913Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342373T>G | CA365615197 | LAMA2 | c.4342T>G (p.Cys1448Gly) c.4606T>G (p.Cys1536Gly) c.4612T>G (p.Cys1538Gly) c.2737T>G (p.Cys913Gly) | |
| 6 | g.129342373T= | CA1663123256 | LAMA2 | c.4342T= (p.Cys1448=) c.4606T= (p.Cys1536=) c.4612T= (p.Cys1538=) c.2737T= (p.Cys913=) | |
| 6 | g.129342374G>A | CA365615200 | LAMA2 | c.4343G>A (p.Cys1448Tyr) c.4607G>A (p.Cys1536Tyr) c.4613G>A (p.Cys1538Tyr) c.2738G>A (p.Cys913Tyr) | |
| 6 | g.129342374G>C | CA365615201 | LAMA2 | c.4343G>C (p.Cys1448Ser) c.4607G>C (p.Cys1536Ser) c.4613G>C (p.Cys1538Ser) c.2738G>C (p.Cys913Ser) | COSMIC |
| 6 | g.129342374G>T | CA365615203 | LAMA2 | c.4343G>T (p.Cys1448Phe) c.4607G>T (p.Cys1536Phe) c.4613G>T (p.Cys1538Phe) c.2738G>T (p.Cys913Phe) | |
| 6 | g.129342375T>A | CA365615205 | LAMA2 | c.4344T>A (p.Cys1448Ter) c.4608T>A (p.Cys1536Ter) c.4614T>A (p.Cys1538Ter) c.2739T>A (p.Cys913Ter) | |
| 6 | g.129342375T>C | CA451925447 | LAMA2 | c.4344T>C (p.Cys1448=) c.4608T>C (p.Cys1536=) c.4614T>C (p.Cys1538=) c.2739T>C (p.Cys913=) | |
| 6 | g.129342375T>G | CA365615207 | LAMA2 | c.4344T>G (p.Cys1448Trp) c.4608T>G (p.Cys1536Trp) c.4614T>G (p.Cys1538Trp) c.2739T>G (p.Cys913Trp) | |
| 6 | g.129342376G>A | CA365615212 | LAMA2 | c.4345G>A (p.Glu1449Lys) c.4609G>A (p.Glu1537Lys) c.4615G>A (p.Glu1539Lys) c.2740G>A (p.Glu914Lys) | |
| 6 | g.129342376G>C | CA365615210 | LAMA2 | c.4345G>C (p.Glu1449Gln) c.4609G>C (p.Glu1537Gln) c.4615G>C (p.Glu1539Gln) c.2740G>C (p.Glu914Gln) | |
| 6 | g.129342376G>T | CA365615209 | LAMA2 | c.4345G>T (p.Glu1449Ter) c.4609G>T (p.Glu1537Ter) c.4615G>T (p.Glu1539Ter) c.2740G>T (p.Glu914Ter) | ClinVar |
| 6 | g.129342377A>C | CA365615214 | LAMA2 | c.4346A>C (p.Glu1449Ala) c.4610A>C (p.Glu1537Ala) c.4616A>C (p.Glu1539Ala) c.2741A>C (p.Glu914Ala) | |
| 6 | g.129342377A>G | CA365615216 | LAMA2 | c.4346A>G (p.Glu1449Gly) c.4610A>G (p.Glu1537Gly) c.4616A>G (p.Glu1539Gly) c.2741A>G (p.Glu914Gly) | |
| 6 | g.129342377A>T | CA365615218 | LAMA2 | c.4346A>T (p.Glu1449Val) c.4610A>T (p.Glu1537Val) c.4616A>T (p.Glu1539Val) c.2741A>T (p.Glu914Val) | gnomAD v4 |
| 6 | g.129342378A>C | CA365615220 | LAMA2 | c.4347A>C (p.Glu1449Asp) c.4611A>C (p.Glu1537Asp) c.4617A>C (p.Glu1539Asp) c.2742A>C (p.Glu914Asp) | |
| 6 | g.129342378A>G | CA451925458 | LAMA2 | c.4347A>G (p.Glu1449=) c.4611A>G (p.Glu1537=) c.4617A>G (p.Glu1539=) c.2742A>G (p.Glu914=) | gnomAD v4 |
| 6 | g.129342378A>T | CA365615221 | LAMA2 | c.4347A>T (p.Glu1449Asp) c.4611A>T (p.Glu1537Asp) c.4617A>T (p.Glu1539Asp) c.2742A>T (p.Glu914Asp) | |
| 6 | g.129342379C>A | CA451925462 | LAMA2 | c.4348C>A (p.Arg1450=) c.4612C>A (p.Arg1538=) c.4618C>A (p.Arg1540=) c.2743C>A (p.Arg915=) | gnomAD v4 |
| 6 | g.129342379C= | CA1663123261 | LAMA2 | c.4348C= (p.Arg1450=) c.4612C= (p.Arg1538=) c.4618C= (p.Arg1540=) c.2743C= (p.Arg915=) | |
| 6 | g.129342379C>G | CA365615223 | LAMA2 | c.4348C>G (p.Arg1450Gly) c.4612C>G (p.Arg1538Gly) c.4618C>G (p.Arg1540Gly) c.2743C>G (p.Arg915Gly) | |
| 6 | g.129342379C>T | CA236268 | LAMA2 | c.4348C>T (p.Arg1450Ter) c.4612C>T (p.Arg1538Ter) c.4618C>T (p.Arg1540Ter) c.2743C>T (p.Arg915Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129342380G>A | CA3993526 | LAMA2 | c.4349G>A (p.Arg1450Gln) c.4613G>A (p.Arg1538Gln) c.4619G>A (p.Arg1540Gln) c.2744G>A (p.Arg915Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342380G>C | CA365615228 | LAMA2 | c.4349G>C (p.Arg1450Pro) c.4613G>C (p.Arg1538Pro) c.4619G>C (p.Arg1540Pro) c.2744G>C (p.Arg915Pro) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129342380G= | CA1663123269 | LAMA2 | c.4349G= (p.Arg1450=) c.4613G= (p.Arg1538=) c.4619G= (p.Arg1540=) c.2744G= (p.Arg915=) | |
| 6 | g.129342380G>T | CA365615229 | LAMA2 | c.4349G>T (p.Arg1450Leu) c.4613G>T (p.Arg1538Leu) c.4619G>T (p.Arg1540Leu) c.2744G>T (p.Arg915Leu) | gnomAD v4 |
| 6 | g.129342381A>C | CA451925472 | LAMA2 | c.4350A>C (p.Arg1450=) c.4614A>C (p.Arg1538=) c.4620A>C (p.Arg1540=) c.2745A>C (p.Arg915=) | |
| 6 | g.129342381A>G | CA451925474 | LAMA2 | c.4350A>G (p.Arg1450=) c.4614A>G (p.Arg1538=) c.4620A>G (p.Arg1540=) c.2745A>G (p.Arg915=) | |
| 6 | g.129342381A>T | CA451925477 | LAMA2 | c.4350A>T (p.Arg1450=) c.4614A>T (p.Arg1538=) c.4620A>T (p.Arg1540=) c.2745A>T (p.Arg915=) | |
| 6 | g.129342382T>A | CA365615232 | LAMA2 | c.4351T>A (p.Cys1451Ser) c.4615T>A (p.Cys1539Ser) c.4621T>A (p.Cys1541Ser) c.2746T>A (p.Cys916Ser) | |
| 6 | g.129342382T>C | CA365615234 | LAMA2 | c.4351T>C (p.Cys1451Arg) c.4615T>C (p.Cys1539Arg) c.4621T>C (p.Cys1541Arg) c.2746T>C (p.Cys916Arg) | dbSNP gnomAD v4 |
| 6 | g.129342382T>G | CA365615235 | LAMA2 | c.4351T>G (p.Cys1451Gly) c.4615T>G (p.Cys1539Gly) c.4621T>G (p.Cys1541Gly) c.2746T>G (p.Cys916Gly) | |
| 6 | g.129342382T= | CA1663123279 | LAMA2 | c.4351T= (p.Cys1451=) c.4615T= (p.Cys1539=) c.4621T= (p.Cys1541=) c.2746T= (p.Cys916=) | |
| 6 | g.129342383G>A | CA365615240 | LAMA2 | c.4352G>A (p.Cys1451Tyr) c.4616G>A (p.Cys1539Tyr) n.1G>A c.4622G>A (p.Cys1541Tyr) c.2747G>A (p.Cys916Tyr) | |
| 6 | g.129342383G>C | CA365615241 | LAMA2 | c.4352G>C (p.Cys1451Ser) c.4616G>C (p.Cys1539Ser) n.1G>C c.4622G>C (p.Cys1541Ser) c.2747G>C (p.Cys916Ser) | |
| 6 | g.129342383G>T | CA365615238 | LAMA2 | c.4352G>T (p.Cys1451Phe) c.4616G>T (p.Cys1539Phe) n.1G>T c.4622G>T (p.Cys1541Phe) c.2747G>T (p.Cys916Phe) | |
| 6 | g.129342384T>A | CA365615244 | LAMA2 | c.4353T>A (p.Cys1451Ter) c.4617T>A (p.Cys1539Ter) n.2T>A c.4623T>A (p.Cys1541Ter) c.2748T>A (p.Cys916Ter) | |
| 6 | g.129342384T>C | CA451925499 | LAMA2 | c.4353T>C (p.Cys1451=) c.4617T>C (p.Cys1539=) n.2T>C c.4623T>C (p.Cys1541=) c.2748T>C (p.Cys916=) | gnomAD v4 |
| 6 | g.129342384T>G | CA365615245 | LAMA2 | c.4353T>G (p.Cys1451Trp) c.4617T>G (p.Cys1539Trp) n.2T>G c.4623T>G (p.Cys1541Trp) c.2748T>G (p.Cys916Trp) | |
| 6 | g.129342385G>A | CA365615247 | LAMA2 | c.4354G>A (p.Ala1452Thr) c.4618G>A (p.Ala1540Thr) n.3G>A c.4624G>A (p.Ala1542Thr) c.2749G>A (p.Ala917Thr) | |
| 6 | g.129342385G>C | CA365615249 | LAMA2 | c.4354G>C (p.Ala1452Pro) c.4618G>C (p.Ala1540Pro) n.3G>C c.4624G>C (p.Ala1542Pro) c.2749G>C (p.Ala917Pro) | |
| 6 | g.129342385G>T | CA365615251 | LAMA2 | c.4354G>T (p.Ala1452Ser) c.4618G>T (p.Ala1540Ser) n.3G>T c.4624G>T (p.Ala1542Ser) c.2749G>T (p.Ala917Ser) | |
| 6 | g.129342386C>A | CA365615256 | LAMA2 | c.4355C>A (p.Ala1452Asp) c.4619C>A (p.Ala1540Asp) n.4C>A c.4625C>A (p.Ala1542Asp) c.2750C>A (p.Ala917Asp) | |
| 6 | g.129342386C= | CA1663123284 | LAMA2 | c.4355C= (p.Ala1452=) c.4619C= (p.Ala1540=) n.4C= c.4625C= (p.Ala1542=) c.2750C= (p.Ala917=) | |
| 6 | g.129342386C>G | CA365615254 | LAMA2 | c.4355C>G (p.Ala1452Gly) c.4619C>G (p.Ala1540Gly) n.4C>G c.4625C>G (p.Ala1542Gly) c.2750C>G (p.Ala917Gly) | |
| 6 | g.129342386C>T | CA146901632 | LAMA2 | c.4355C>T (p.Ala1452Val) c.4619C>T (p.Ala1540Val) n.4C>T c.4625C>T (p.Ala1542Val) c.2750C>T (p.Ala917Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129342387T>A | CA451925510 | LAMA2 | c.4356T>A (p.Ala1452=) c.4620T>A (p.Ala1540=) n.5T>A c.4626T>A (p.Ala1542=) c.2751T>A (p.Ala917=) | |
| 6 | g.129342387T>C | CA451925513 | LAMA2 | c.4356T>C (p.Ala1452=) c.4620T>C (p.Ala1540=) n.5T>C c.4626T>C (p.Ala1542=) c.2751T>C (p.Ala917=) | |
| 6 | g.129342387T>G | CA451925519 | LAMA2 | c.4356T>G (p.Ala1452=) c.4620T>G (p.Ala1540=) n.5T>G c.4626T>G (p.Ala1542=) c.2751T>G (p.Ala917=) |