UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129454112C>A | CA2680307633 | LAMA2 | c.6574-43C>A (n.6574-43C>A) c.6838-43C>A (n.6838-43C>A) n.205-43C>A c.6571-43C>A (n.6571-43C>A) c.6832-43C>A (n.6832-43C>A) c.6844-43C>A (n.6844-43C>A) c.4969-43C>A (n.4969-43C>A) | gnomAD v4 |
| 6 | g.129454112C= | CA1663183411 | LAMA2 | c.6574-43C= (n.6574-43C=) c.6838-43C= (n.6838-43C=) n.205-43C= c.6571-43C= (n.6571-43C=) c.6832-43C= (n.6832-43C=) c.6844-43C= (n.6844-43C=) c.4969-43C= (n.4969-43C=) | |
| 6 | g.129454112C>T | CA3994309 | LAMA2 | c.6574-43C>T (n.6574-43C>T) c.6838-43C>T (n.6838-43C>T) n.205-43C>T c.6571-43C>T (n.6571-43C>T) c.6832-43C>T (n.6832-43C>T) c.6844-43C>T (n.6844-43C>T) c.4969-43C>T (n.4969-43C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129454113T>A | CA1663183413 | LAMA2 | c.6574-42T>A (n.6574-42T>A) c.6838-42T>A (n.6838-42T>A) n.205-42T>A c.6571-42T>A (n.6571-42T>A) c.6832-42T>A (n.6832-42T>A) c.6844-42T>A (n.6844-42T>A) c.4969-42T>A (n.4969-42T>A) | dbSNP |
| 6 | g.129454113T>C | CA570054013 | LAMA2 | c.6574-42T>C (n.6574-42T>C) c.6838-42T>C (n.6838-42T>C) n.205-42T>C c.6571-42T>C (n.6571-42T>C) c.6832-42T>C (n.6832-42T>C) c.6844-42T>C (n.6844-42T>C) c.4969-42T>C (n.4969-42T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129454113T= | CA1663183412 | LAMA2 | c.6574-42T= (n.6574-42T=) c.6838-42T= (n.6838-42T=) n.205-42T= c.6571-42T= (n.6571-42T=) c.6832-42T= (n.6832-42T=) c.6844-42T= (n.6844-42T=) c.4969-42T= (n.4969-42T=) | |
| 6 | g.129454114T>A | CA2680307635 | LAMA2 | c.6574-41T>A (n.6574-41T>A) c.6838-41T>A (n.6838-41T>A) n.205-41T>A c.6571-41T>A (n.6571-41T>A) c.6832-41T>A (n.6832-41T>A) c.6844-41T>A (n.6844-41T>A) c.4969-41T>A (n.4969-41T>A) | gnomAD v4 |
| 6 | g.129454116A>G | CA2680307636 | LAMA2 | c.6574-39A>G (n.6574-39A>G) c.6838-39A>G (n.6838-39A>G) n.205-39A>G c.6571-39A>G (n.6571-39A>G) c.6832-39A>G (n.6832-39A>G) c.6844-39A>G (n.6844-39A>G) c.4969-39A>G (n.4969-39A>G) | gnomAD v4 |
| 6 | g.129454118A= | CA1663183415 | LAMA2 | c.6574-37A= (n.6574-37A=) c.6838-37A= (n.6838-37A=) n.205-37A= c.6571-37A= (n.6571-37A=) c.6832-37A= (n.6832-37A=) c.6844-37A= (n.6844-37A=) c.4969-37A= (n.4969-37A=) | |
| 6 | g.129454118A>C | CA570054014 | LAMA2 | c.6574-37A>C (n.6574-37A>C) c.6838-37A>C (n.6838-37A>C) n.205-37A>C c.6571-37A>C (n.6571-37A>C) c.6832-37A>C (n.6832-37A>C) c.6844-37A>C (n.6844-37A>C) c.4969-37A>C (n.4969-37A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129454118A>G | CA2680307638 | LAMA2 | c.6574-37A>G (n.6574-37A>G) c.6838-37A>G (n.6838-37A>G) n.205-37A>G c.6571-37A>G (n.6571-37A>G) c.6832-37A>G (n.6832-37A>G) c.6844-37A>G (n.6844-37A>G) c.4969-37A>G (n.4969-37A>G) | gnomAD v4 |
| 6 | g.129454120C>A | CA2680307639 | LAMA2 | c.6574-35C>A (n.6574-35C>A) c.6838-35C>A (n.6838-35C>A) n.205-35C>A c.6571-35C>A (n.6571-35C>A) c.6832-35C>A (n.6832-35C>A) c.6844-35C>A (n.6844-35C>A) c.4969-35C>A (n.4969-35C>A) | gnomAD v4 |
| 6 | g.129454121T>C | CA2680307640 | LAMA2 | c.6574-34T>C (n.6574-34T>C) c.6838-34T>C (n.6838-34T>C) n.205-34T>C c.6571-34T>C (n.6571-34T>C) c.6832-34T>C (n.6832-34T>C) c.6844-34T>C (n.6844-34T>C) c.4969-34T>C (n.4969-34T>C) | gnomAD v4 |
| 6 | g.129454122G>C | CA1663183417 | LAMA2 | c.6574-33G>C (n.6574-33G>C) c.6838-33G>C (n.6838-33G>C) n.205-33G>C c.6571-33G>C (n.6571-33G>C) c.6832-33G>C (n.6832-33G>C) c.6844-33G>C (n.6844-33G>C) c.4969-33G>C (n.4969-33G>C) | dbSNP gnomAD v4 |
| 6 | g.129454122G= | CA1663183416 | LAMA2 | c.6574-33G= (n.6574-33G=) c.6838-33G= (n.6838-33G=) n.205-33G= c.6571-33G= (n.6571-33G=) c.6832-33G= (n.6832-33G=) c.6844-33G= (n.6844-33G=) c.4969-33G= (n.4969-33G=) | |
| 6 | g.129454123A= | CA1663183418 | LAMA2 | c.6574-32A= (n.6574-32A=) c.6838-32A= (n.6838-32A=) n.205-32A= c.6571-32A= (n.6571-32A=) c.6832-32A= (n.6832-32A=) c.6844-32A= (n.6844-32A=) c.4969-32A= (n.4969-32A=) | |
| 6 | g.129454123A>C | CA2740787703 | LAMA2 | c.6574-32A>C (n.6574-32A>C) c.6838-32A>C (n.6838-32A>C) n.205-32A>C c.6571-32A>C (n.6571-32A>C) c.6832-32A>C (n.6832-32A>C) c.6844-32A>C (n.6844-32A>C) c.4969-32A>C (n.4969-32A>C) | |
| 6 | g.129454123A>G | CA3994310 | LAMA2 | c.6574-32A>G (n.6574-32A>G) c.6838-32A>G (n.6838-32A>G) n.205-32A>G c.6571-32A>G (n.6571-32A>G) c.6832-32A>G (n.6832-32A>G) c.6844-32A>G (n.6844-32A>G) c.4969-32A>G (n.4969-32A>G) | dbSNP ExAC gnomAD v2 |
| 6 | g.129454123A>T | CA570054015 | LAMA2 | c.6574-32A>T (n.6574-32A>T) c.6838-32A>T (n.6838-32A>T) n.205-32A>T c.6571-32A>T (n.6571-32A>T) c.6832-32A>T (n.6832-32A>T) c.6844-32A>T (n.6844-32A>T) c.4969-32A>T (n.4969-32A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129454125A>G | CA2578737704 | LAMA2 | c.6574-30A>G (n.6574-30A>G) c.6838-30A>G (n.6838-30A>G) n.205-30A>G c.6571-30A>G (n.6571-30A>G) c.6832-30A>G (n.6832-30A>G) c.6844-30A>G (n.6844-30A>G) c.4969-30A>G (n.4969-30A>G) | |
| 6 | g.129454126T>C | CA2680307641 | LAMA2 | c.6574-29T>C (n.6574-29T>C) c.6838-29T>C (n.6838-29T>C) n.205-29T>C c.6571-29T>C (n.6571-29T>C) c.6832-29T>C (n.6832-29T>C) c.6844-29T>C (n.6844-29T>C) c.4969-29T>C (n.4969-29T>C) | gnomAD v4 |
| 6 | g.129454127C= | CA1663183419 | LAMA2 | c.6574-28C= (n.6574-28C=) c.6838-28C= (n.6838-28C=) n.205-28C= c.6571-28C= (n.6571-28C=) c.6832-28C= (n.6832-28C=) c.6844-28C= (n.6844-28C=) c.4969-28C= (n.4969-28C=) | |
| 6 | g.129454127C>G | CA2680307642 | LAMA2 | c.6574-28C>G (n.6574-28C>G) c.6838-28C>G (n.6838-28C>G) n.205-28C>G c.6571-28C>G (n.6571-28C>G) c.6832-28C>G (n.6832-28C>G) c.6844-28C>G (n.6844-28C>G) c.4969-28C>G (n.4969-28C>G) | gnomAD v4 |
| 6 | g.129454127C>T | CA1663183420 | LAMA2 | c.6574-28C>T (n.6574-28C>T) c.6838-28C>T (n.6838-28C>T) n.205-28C>T c.6571-28C>T (n.6571-28C>T) c.6832-28C>T (n.6832-28C>T) c.6844-28C>T (n.6844-28C>T) c.4969-28C>T (n.4969-28C>T) | dbSNP gnomAD v4 |
| 6 | g.129454128T>C | CA2680307644 | LAMA2 | c.6574-27T>C (n.6574-27T>C) c.6838-27T>C (n.6838-27T>C) n.205-27T>C c.6571-27T>C (n.6571-27T>C) c.6832-27T>C (n.6832-27T>C) c.6844-27T>C (n.6844-27T>C) c.4969-27T>C (n.4969-27T>C) | gnomAD v4 |
| 6 | g.129454129C>A | CA146884199 | LAMA2 | c.6574-26C>A (n.6574-26C>A) c.6838-26C>A (n.6838-26C>A) n.205-26C>A c.6571-26C>A (n.6571-26C>A) c.6832-26C>A (n.6832-26C>A) c.6844-26C>A (n.6844-26C>A) c.4969-26C>A (n.4969-26C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129454129C= | CA1663183421 | LAMA2 | c.6574-26C= (n.6574-26C=) c.6838-26C= (n.6838-26C=) n.205-26C= c.6571-26C= (n.6571-26C=) c.6832-26C= (n.6832-26C=) c.6844-26C= (n.6844-26C=) c.4969-26C= (n.4969-26C=) | |
| 6 | g.129454130T>G | CA3994311 | LAMA2 | c.6574-25T>G (n.6574-25T>G) c.6838-25T>G (n.6838-25T>G) n.205-25T>G c.6571-25T>G (n.6571-25T>G) c.6832-25T>G (n.6832-25T>G) c.6844-25T>G (n.6844-25T>G) c.4969-25T>G (n.4969-25T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129454130T= | CA1663183422 | LAMA2 | c.6574-25T= (n.6574-25T=) c.6838-25T= (n.6838-25T=) n.205-25T= c.6571-25T= (n.6571-25T=) c.6832-25T= (n.6832-25T=) c.6844-25T= (n.6844-25T=) c.4969-25T= (n.4969-25T=) | |
| 6 | g.129454130_129454131del | CA2680307646 | LAMA2 | c.6574-25_6574-24del (n.6574-25_6574-24del) c.6838-25_6838-24del (n.6838-25_6838-24del) n.205-25_205-24del c.6571-25_6571-24del (n.6571-25_6571-24del) c.6832-25_6832-24del (n.6832-25_6832-24del) c.6844-25_6844-24del (n.6844-25_6844-24del) c.4969-25_4969-24del (n.4969-25_4969-24del) | gnomAD v4 |
| 6 | g.129454131T>C | CA3994312 | LAMA2 | c.6574-24T>C (n.6574-24T>C) c.6838-24T>C (n.6838-24T>C) n.205-24T>C c.6571-24T>C (n.6571-24T>C) c.6832-24T>C (n.6832-24T>C) c.6844-24T>C (n.6844-24T>C) c.4969-24T>C (n.4969-24T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129454131T= | CA1663183423 | LAMA2 | c.6574-24T= (n.6574-24T=) c.6838-24T= (n.6838-24T=) n.205-24T= c.6571-24T= (n.6571-24T=) c.6832-24T= (n.6832-24T=) c.6844-24T= (n.6844-24T=) c.4969-24T= (n.4969-24T=) | |
| 6 | g.129454132G>A | CA1094406055 | LAMA2 | c.6574-23G>A (n.6574-23G>A) c.6838-23G>A (n.6838-23G>A) n.205-23G>A c.6571-23G>A (n.6571-23G>A) c.6832-23G>A (n.6832-23G>A) c.6844-23G>A (n.6844-23G>A) c.4969-23G>A (n.4969-23G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129454132G>C | CA2680307650 | LAMA2 | c.6574-23G>C (n.6574-23G>C) c.6838-23G>C (n.6838-23G>C) n.205-23G>C c.6571-23G>C (n.6571-23G>C) c.6832-23G>C (n.6832-23G>C) c.6844-23G>C (n.6844-23G>C) c.4969-23G>C (n.4969-23G>C) | gnomAD v4 |
| 6 | g.129454132G= | CA1663183424 | LAMA2 | c.6574-23G= (n.6574-23G=) c.6838-23G= (n.6838-23G=) n.205-23G= c.6571-23G= (n.6571-23G=) c.6832-23G= (n.6832-23G=) c.6844-23G= (n.6844-23G=) c.4969-23G= (n.4969-23G=) | |
| 6 | g.129454137del | CA2578737705 | LAMA2 | c.6574-18del (n.6574-18del) c.6838-18del (n.6838-18del) n.205-18del c.6571-18del (n.6571-18del) c.6832-18del (n.6832-18del) c.6844-18del (n.6844-18del) c.4969-18del (n.4969-18del) | |
| 6 | g.129454136T>C | CA1663183426 | LAMA2 | c.6574-19T>C (n.6574-19T>C) c.6838-19T>C (n.6838-19T>C) n.205-19T>C c.6571-19T>C (n.6571-19T>C) c.6832-19T>C (n.6832-19T>C) c.6844-19T>C (n.6844-19T>C) c.4969-19T>C (n.4969-19T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129454136T>G | CA2680307655 | LAMA2 | c.6574-19T>G (n.6574-19T>G) c.6838-19T>G (n.6838-19T>G) n.205-19T>G c.6571-19T>G (n.6571-19T>G) c.6832-19T>G (n.6832-19T>G) c.6844-19T>G (n.6844-19T>G) c.4969-19T>G (n.4969-19T>G) | gnomAD v4 |
| 6 | g.129454136T= | CA1663183425 | LAMA2 | c.6574-19T= (n.6574-19T=) c.6838-19T= (n.6838-19T=) n.205-19T= c.6571-19T= (n.6571-19T=) c.6832-19T= (n.6832-19T=) c.6844-19T= (n.6844-19T=) c.4969-19T= (n.4969-19T=) | |
| 6 | g.129454138G>C | CA2680307656 | LAMA2 | c.6574-17G>C (n.6574-17G>C) c.6838-17G>C (n.6838-17G>C) n.205-17G>C c.6571-17G>C (n.6571-17G>C) c.6832-17G>C (n.6832-17G>C) c.6844-17G>C (n.6844-17G>C) c.4969-17G>C (n.4969-17G>C) | gnomAD v4 |
| 6 | g.129454138G= | CA1663183428 | LAMA2 | c.6574-17G= (n.6574-17G=) c.6838-17G= (n.6838-17G=) n.205-17G= c.6571-17G= (n.6571-17G=) c.6832-17G= (n.6832-17G=) c.6844-17G= (n.6844-17G=) c.4969-17G= (n.4969-17G=) | |
| 6 | g.129454138G>T | CA1094406056 | LAMA2 | c.6574-17G>T (n.6574-17G>T) c.6838-17G>T (n.6838-17G>T) n.205-17G>T c.6571-17G>T (n.6571-17G>T) c.6832-17G>T (n.6832-17G>T) c.6844-17G>T (n.6844-17G>T) c.4969-17G>T (n.4969-17G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129454142T>A | CA2680307657 | LAMA2 | c.6574-13T>A (n.6574-13T>A) c.6838-13T>A (n.6838-13T>A) n.205-13T>A c.6571-13T>A (n.6571-13T>A) c.6832-13T>A (n.6832-13T>A) c.6844-13T>A (n.6844-13T>A) c.4969-13T>A (n.4969-13T>A) | gnomAD v4 |
| 6 | g.129454145T>C | CA1663183430 | LAMA2 | c.6574-10T>C (n.6574-10T>C) c.6838-10T>C (n.6838-10T>C) n.205-10T>C c.6571-10T>C (n.6571-10T>C) c.6832-10T>C (n.6832-10T>C) c.6844-10T>C (n.6844-10T>C) c.4969-10T>C (n.4969-10T>C) | dbSNP |
| 6 | g.129454145T= | CA1663183429 | LAMA2 | c.6574-10T= (n.6574-10T=) c.6838-10T= (n.6838-10T=) n.205-10T= c.6571-10T= (n.6571-10T=) c.6832-10T= (n.6832-10T=) c.6844-10T= (n.6844-10T=) c.4969-10T= (n.4969-10T=) | |
| 6 | g.129454146C= | CA1663183432 | LAMA2 | c.6574-9C= (n.6574-9C=) c.6838-9C= (n.6838-9C=) n.205-9C= c.6571-9C= (n.6571-9C=) c.6832-9C= (n.6832-9C=) c.6844-9C= (n.6844-9C=) c.4969-9C= (n.4969-9C=) | |
| 6 | g.129454146C>G | CA1094406062 | LAMA2 | c.6574-9C>G (n.6574-9C>G) c.6838-9C>G (n.6838-9C>G) n.205-9C>G c.6571-9C>G (n.6571-9C>G) c.6832-9C>G (n.6832-9C>G) c.6844-9C>G (n.6844-9C>G) c.4969-9C>G (n.4969-9C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129454146C>T | CA146884223 | LAMA2 | c.6574-9C>T (n.6574-9C>T) c.6838-9C>T (n.6838-9C>T) n.205-9C>T c.6571-9C>T (n.6571-9C>T) c.6832-9C>T (n.6832-9C>T) c.6844-9C>T (n.6844-9C>T) c.4969-9C>T (n.4969-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129454147T>C | CA2739266072 | LAMA2 | c.6574-8T>C (n.6574-8T>C) c.6838-8T>C (n.6838-8T>C) n.205-8T>C c.6571-8T>C (n.6571-8T>C) c.6832-8T>C (n.6832-8T>C) c.6844-8T>C (n.6844-8T>C) c.4969-8T>C (n.4969-8T>C) | ClinVar |
| 6 | g.129454148G>A | CA645557817 | LAMA2 | c.6574-7G>A (n.6574-7G>A) c.6838-7G>A (n.6838-7G>A) n.205-7G>A c.6571-7G>A (n.6571-7G>A) c.6832-7G>A (n.6832-7G>A) c.6844-7G>A (n.6844-7G>A) c.4969-7G>A (n.4969-7G>A) | COSMIC |
| 6 | g.129454148G>C | CA2499218079 | LAMA2 | c.6574-7G>C (n.6574-7G>C) c.6838-7G>C (n.6838-7G>C) n.205-7G>C c.6571-7G>C (n.6571-7G>C) c.6832-7G>C (n.6832-7G>C) c.6844-7G>C (n.6844-7G>C) c.4969-7G>C (n.4969-7G>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129454150A= | CA1663183434 | LAMA2 | c.6574-5A= (n.6574-5A=) c.6838-5A= (n.6838-5A=) n.205-5A= c.6571-5A= (n.6571-5A=) c.6832-5A= (n.6832-5A=) c.6844-5A= (n.6844-5A=) c.4969-5A= (n.4969-5A=) | |
| 6 | g.129454150A>G | CA570054016 | LAMA2 | c.6574-5A>G (n.6574-5A>G) c.6838-5A>G (n.6838-5A>G) n.205-5A>G c.6571-5A>G (n.6571-5A>G) c.6832-5A>G (n.6832-5A>G) c.6844-5A>G (n.6844-5A>G) c.4969-5A>G (n.4969-5A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129454151C>G | CA2680307660 | LAMA2 | c.6574-4C>G (n.6574-4C>G) c.6838-4C>G (n.6838-4C>G) n.205-4C>G c.6571-4C>G (n.6571-4C>G) c.6832-4C>G (n.6832-4C>G) c.6844-4C>G (n.6844-4C>G) c.4969-4C>G (n.4969-4C>G) | gnomAD v4 |
| 6 | g.129454151C>T | CA645557818 | LAMA2 | c.6574-4C>T (n.6574-4C>T) c.6838-4C>T (n.6838-4C>T) n.205-4C>T c.6571-4C>T (n.6571-4C>T) c.6832-4C>T (n.6832-4C>T) c.6844-4C>T (n.6844-4C>T) c.4969-4C>T (n.4969-4C>T) | COSMIC |
| 6 | g.129454152T>G | CA2580074981 | LAMA2 | c.6574-3T>G (n.6574-3T>G) c.6838-3T>G (n.6838-3T>G) n.205-3T>G c.6571-3T>G (n.6571-3T>G) c.6832-3T>G (n.6832-3T>G) c.6844-3T>G (n.6844-3T>G) c.4969-3T>G (n.4969-3T>G) | ClinVar gnomAD v4 |
| 6 | g.129454152T= | CA1663183436 | LAMA2 | c.6574-3T= (n.6574-3T=) c.6838-3T= (n.6838-3T=) n.205-3T= c.6571-3T= (n.6571-3T=) c.6832-3T= (n.6832-3T=) c.6844-3T= (n.6844-3T=) c.4969-3T= (n.4969-3T=) | |
| 6 | g.129454152_129454153insTTCTGGCTATAGAAAC | CA570054017 | LAMA2 | c.6574-3_6574-2insTTCTGGCTATAGAAAC (n.6574-3_6574-2insTTCTGGCTATAGAAAC) c.6838-3_6838-2insTTCTGGCTATAGAAAC (n.6838-3_6838-2insTTCTGGCTATAGAAAC) n.205-3_205-2insTTCTGGCTATAGAAAC c.6571-3_6571-2insTTCTGGCTATAGAAAC (n.6571-3_6571-2insTTCTGGCTATAGAAAC) c.6832-3_6832-2insTTCTGGCTATAGAAAC (n.6832-3_6832-2insTTCTGGCTATAGAAAC) c.6844-3_6844-2insTTCTGGCTATAGAAAC (n.6844-3_6844-2insTTCTGGCTATAGAAAC) c.4969-3_4969-2insTTCTGGCTATAGAAAC (n.4969-3_4969-2insTTCTGGCTATAGAAAC) | dbSNP gnomAD v2 |
| 6 | g.129454153A>C | CA365616816 | LAMA2 | c.6574-2A>C (n.6574-2A>C) c.6838-2A>C (n.6838-2A>C) n.205-2A>C c.6571-2A>C (n.6571-2A>C) c.6832-2A>C (n.6832-2A>C) c.6844-2A>C (n.6844-2A>C) c.4969-2A>C (n.4969-2A>C) | |
| 6 | g.129454153A>G | CA365616817 | LAMA2 | c.6574-2A>G (n.6574-2A>G) c.6838-2A>G (n.6838-2A>G) n.205-2A>G c.6571-2A>G (n.6571-2A>G) c.6832-2A>G (n.6832-2A>G) c.6844-2A>G (n.6844-2A>G) c.4969-2A>G (n.4969-2A>G) | gnomAD v4 |
| 6 | g.129454153A>T | CA365616818 | LAMA2 | c.6574-2A>T (n.6574-2A>T) c.6838-2A>T (n.6838-2A>T) n.205-2A>T c.6571-2A>T (n.6571-2A>T) c.6832-2A>T (n.6832-2A>T) c.6844-2A>T (n.6844-2A>T) c.4969-2A>T (n.4969-2A>T) | |
| 6 | g.129454154G>A | CA365616820 | LAMA2 | c.6574-1G>A (n.6574-1G>A) c.6838-1G>A (n.6838-1G>A) n.205-1G>A c.6571-1G>A (n.6571-1G>A) c.6832-1G>A (n.6832-1G>A) c.6844-1G>A (n.6844-1G>A) c.4969-1G>A (n.4969-1G>A) | |
| 6 | g.129454154G>C | CA365616821 | LAMA2 | c.6574-1G>C (n.6574-1G>C) c.6838-1G>C (n.6838-1G>C) n.205-1G>C c.6571-1G>C (n.6571-1G>C) c.6832-1G>C (n.6832-1G>C) c.6844-1G>C (n.6844-1G>C) c.4969-1G>C (n.4969-1G>C) | |
| 6 | g.129454154G>T | CA365616823 | LAMA2 | c.6574-1G>T (n.6574-1G>T) c.6838-1G>T (n.6838-1G>T) n.205-1G>T c.6571-1G>T (n.6571-1G>T) c.6832-1G>T (n.6832-1G>T) c.6844-1G>T (n.6844-1G>T) c.4969-1G>T (n.4969-1G>T) | |
| 6 | g.129454155A>C | CA365616827 | LAMA2 | c.6574A>C (p.Ile2192Leu) c.6838A>C (p.Ile2280Leu) n.205A>C c.6571A>C (p.Ile2191Leu) c.6832A>C (p.Ile2278Leu) c.6844A>C (p.Ile2282Leu) c.4969A>C (p.Ile1657Leu) | |
| 6 | g.129454155A>G | CA365616826 | LAMA2 | c.6574A>G (p.Ile2192Val) c.6838A>G (p.Ile2280Val) n.205A>G c.6571A>G (p.Ile2191Val) c.6832A>G (p.Ile2278Val) c.6844A>G (p.Ile2282Val) c.4969A>G (p.Ile1657Val) | COSMIC |
| 6 | g.129454155A>T | CA365616825 | LAMA2 | c.6574A>T (p.Ile2192Phe) c.6838A>T (p.Ile2280Phe) n.205A>T c.6571A>T (p.Ile2191Phe) c.6832A>T (p.Ile2278Phe) c.6844A>T (p.Ile2282Phe) c.4969A>T (p.Ile1657Phe) | |
| 6 | g.129454156T>A | CA365616830 | LAMA2 | c.6575T>A (p.Ile2192Asn) c.6839T>A (p.Ile2280Asn) n.206T>A c.6572T>A (p.Ile2191Asn) c.6833T>A (p.Ile2278Asn) c.6845T>A (p.Ile2282Asn) c.4970T>A (p.Ile1657Asn) | |
| 6 | g.129454156T>C | CA365616833 | LAMA2 | c.6575T>C (p.Ile2192Thr) c.6839T>C (p.Ile2280Thr) n.206T>C c.6572T>C (p.Ile2191Thr) c.6833T>C (p.Ile2278Thr) c.6845T>C (p.Ile2282Thr) c.4970T>C (p.Ile1657Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129454156T>G | CA365616832 | LAMA2 | c.6575T>G (p.Ile2192Ser) c.6839T>G (p.Ile2280Ser) n.206T>G c.6572T>G (p.Ile2191Ser) c.6833T>G (p.Ile2278Ser) c.6845T>G (p.Ile2282Ser) c.4970T>G (p.Ile1657Ser) | |
| 6 | g.129454156T= | CA1663183438 | LAMA2 | c.6575T= (p.Ile2192=) c.6839T= (p.Ile2280=) n.206T= c.6572T= (p.Ile2191=) c.6833T= (p.Ile2278=) c.6845T= (p.Ile2282=) c.4970T= (p.Ile1657=) | |
| 6 | g.129454157T>A | CA451923413 | LAMA2 | c.6576T>A (p.Ile2192=) c.6840T>A (p.Ile2280=) n.207T>A c.6573T>A (p.Ile2191=) c.6834T>A (p.Ile2278=) c.6846T>A (p.Ile2282=) c.4971T>A (p.Ile1657=) | |
| 6 | g.129454157T>C | CA451923414 | LAMA2 | c.6576T>C (p.Ile2192=) c.6840T>C (p.Ile2280=) n.207T>C c.6573T>C (p.Ile2191=) c.6834T>C (p.Ile2278=) c.6846T>C (p.Ile2282=) c.4971T>C (p.Ile1657=) | |
| 6 | g.129454157T>G | CA365616835 | LAMA2 | c.6576T>G (p.Ile2192Met) c.6840T>G (p.Ile2280Met) n.207T>G c.6573T>G (p.Ile2191Met) c.6834T>G (p.Ile2278Met) c.6846T>G (p.Ile2282Met) c.4971T>G (p.Ile1657Met) | |
| 6 | g.129454158G>A | CA365616836 | LAMA2 | c.6577G>A (p.Asp2193Asn) c.6841G>A (p.Asp2281Asn) n.208G>A c.6574G>A (p.Asp2192Asn) c.6835G>A (p.Asp2279Asn) c.6847G>A (p.Asp2283Asn) c.4972G>A (p.Asp1658Asn) | gnomAD v4 |
| 6 | g.129454158G>C | CA365616837 | LAMA2 | c.6577G>C (p.Asp2193His) c.6841G>C (p.Asp2281His) n.208G>C c.6574G>C (p.Asp2192His) c.6835G>C (p.Asp2279His) c.6847G>C (p.Asp2283His) c.4972G>C (p.Asp1658His) | |
| 6 | g.129454158G>T | CA365616839 | LAMA2 | c.6577G>T (p.Asp2193Tyr) c.6841G>T (p.Asp2281Tyr) n.208G>T c.6574G>T (p.Asp2192Tyr) c.6835G>T (p.Asp2279Tyr) c.6847G>T (p.Asp2283Tyr) c.4972G>T (p.Asp1658Tyr) | |
| 6 | g.129454159A>C | CA365616840 | LAMA2 | c.6578A>C (p.Asp2193Ala) c.6842A>C (p.Asp2281Ala) n.209A>C c.6575A>C (p.Asp2192Ala) c.6836A>C (p.Asp2279Ala) c.6848A>C (p.Asp2283Ala) c.4973A>C (p.Asp1658Ala) | |
| 6 | g.129454159A>G | CA365616841 | LAMA2 | c.6578A>G (p.Asp2193Gly) c.6842A>G (p.Asp2281Gly) n.209A>G c.6575A>G (p.Asp2192Gly) c.6836A>G (p.Asp2279Gly) c.6848A>G (p.Asp2283Gly) c.4973A>G (p.Asp1658Gly) | gnomAD v4 |
| 6 | g.129454159A>T | CA365616843 | LAMA2 | c.6578A>T (p.Asp2193Val) c.6842A>T (p.Asp2281Val) n.209A>T c.6575A>T (p.Asp2192Val) c.6836A>T (p.Asp2279Val) c.6848A>T (p.Asp2283Val) c.4973A>T (p.Asp1658Val) | |
| 6 | g.129454160C>A | CA365616844 | LAMA2 | c.6579C>A (p.Asp2193Glu) c.6843C>A (p.Asp2281Glu) n.210C>A c.6576C>A (p.Asp2192Glu) c.6837C>A (p.Asp2279Glu) c.6849C>A (p.Asp2283Glu) c.4974C>A (p.Asp1658Glu) | |
| 6 | g.129454160C= | CA1663183440 | LAMA2 | c.6579C= (p.Asp2193=) c.6843C= (p.Asp2281=) n.210C= c.6576C= (p.Asp2192=) c.6837C= (p.Asp2279=) c.6849C= (p.Asp2283=) c.4974C= (p.Asp1658=) | |
| 6 | g.129454160C>G | CA365616846 | LAMA2 | c.6579C>G (p.Asp2193Glu) c.6843C>G (p.Asp2281Glu) n.210C>G c.6576C>G (p.Asp2192Glu) c.6837C>G (p.Asp2279Glu) c.6849C>G (p.Asp2283Glu) c.4974C>G (p.Asp1658Glu) | |
| 6 | g.129454160C>T | CA3994313 | LAMA2 | c.6579C>T (p.Asp2193=) c.6843C>T (p.Asp2281=) n.210C>T c.6576C>T (p.Asp2192=) c.6837C>T (p.Asp2279=) c.6849C>T (p.Asp2283=) c.4974C>T (p.Asp1658=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129454161T>A | CA365616849 | LAMA2 | c.6580T>A (p.Phe2194Ile) c.6844T>A (p.Phe2282Ile) n.211T>A c.6577T>A (p.Phe2193Ile) c.6838T>A (p.Phe2280Ile) c.6850T>A (p.Phe2284Ile) c.4975T>A (p.Phe1659Ile) | |
| 6 | g.129454161T>C | CA365616850 | LAMA2 | c.6580T>C (p.Phe2194Leu) c.6844T>C (p.Phe2282Leu) n.211T>C c.6577T>C (p.Phe2193Leu) c.6838T>C (p.Phe2280Leu) c.6850T>C (p.Phe2284Leu) c.4975T>C (p.Phe1659Leu) | |
| 6 | g.129454161T>G | CA365616851 | LAMA2 | c.6580T>G (p.Phe2194Val) c.6844T>G (p.Phe2282Val) n.211T>G c.6577T>G (p.Phe2193Val) c.6838T>G (p.Phe2280Val) c.6850T>G (p.Phe2284Val) c.4975T>G (p.Phe1659Val) | |
| 6 | g.129454162T>A | CA365616852 | LAMA2 | c.6581T>A (p.Phe2194Tyr) c.6845T>A (p.Phe2282Tyr) n.212T>A c.6578T>A (p.Phe2193Tyr) c.6839T>A (p.Phe2280Tyr) c.6851T>A (p.Phe2284Tyr) c.4976T>A (p.Phe1659Tyr) | |
| 6 | g.129454162T>C | CA365616856 | LAMA2 | c.6581T>C (p.Phe2194Ser) c.6845T>C (p.Phe2282Ser) n.212T>C c.6578T>C (p.Phe2193Ser) c.6839T>C (p.Phe2280Ser) c.6851T>C (p.Phe2284Ser) c.4976T>C (p.Phe1659Ser) | gnomAD v4 |
| 6 | g.129454162T>G | CA365616854 | LAMA2 | c.6581T>G (p.Phe2194Cys) c.6845T>G (p.Phe2282Cys) n.212T>G c.6578T>G (p.Phe2193Cys) c.6839T>G (p.Phe2280Cys) c.6851T>G (p.Phe2284Cys) c.4976T>G (p.Phe1659Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129454162T= | CA1663183445 | LAMA2 | c.6581T= (p.Phe2194=) c.6845T= (p.Phe2282=) n.212T= c.6578T= (p.Phe2193=) c.6839T= (p.Phe2280=) c.6851T= (p.Phe2284=) c.4976T= (p.Phe1659=) | |
| 6 | g.129454163T>A | CA146884251 | LAMA2 | c.6582T>A (p.Phe2194Leu) c.6846T>A (p.Phe2282Leu) n.213T>A c.6579T>A (p.Phe2193Leu) c.6840T>A (p.Phe2280Leu) c.6852T>A (p.Phe2284Leu) c.4977T>A (p.Phe1659Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129454163T>C | CA451923419 | LAMA2 | c.6582T>C (p.Phe2194=) c.6846T>C (p.Phe2282=) n.213T>C c.6579T>C (p.Phe2193=) c.6840T>C (p.Phe2280=) c.6852T>C (p.Phe2284=) c.4977T>C (p.Phe1659=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129454163T>G | CA365616857 | LAMA2 | c.6582T>G (p.Phe2194Leu) c.6846T>G (p.Phe2282Leu) n.213T>G c.6579T>G (p.Phe2193Leu) c.6840T>G (p.Phe2280Leu) c.6852T>G (p.Phe2284Leu) c.4977T>G (p.Phe1659Leu) | |
| 6 | g.129454163T= | CA1663183447 | LAMA2 | c.6582T= (p.Phe2194=) c.6846T= (p.Phe2282=) n.213T= c.6579T= (p.Phe2193=) c.6840T= (p.Phe2280=) c.6852T= (p.Phe2284=) c.4977T= (p.Phe1659=) | |
| 6 | g.129454164C>A | CA365616860 | LAMA2 | c.6583C>A (p.Leu2195Met) c.6847C>A (p.Leu2283Met) n.214C>A c.6580C>A (p.Leu2194Met) c.6841C>A (p.Leu2281Met) c.6853C>A (p.Leu2285Met) c.4978C>A (p.Leu1660Met) | |
| 6 | g.129454164C>G | CA365616861 | LAMA2 | c.6583C>G (p.Leu2195Val) c.6847C>G (p.Leu2283Val) n.214C>G c.6580C>G (p.Leu2194Val) c.6841C>G (p.Leu2281Val) c.6853C>G (p.Leu2285Val) c.4978C>G (p.Leu1660Val) | |
| 6 | g.129454164C>T | CA451923421 | LAMA2 | c.6583C>T (p.Leu2195=) c.6847C>T (p.Leu2283=) n.214C>T c.6580C>T (p.Leu2194=) c.6841C>T (p.Leu2281=) c.6853C>T (p.Leu2285=) c.4978C>T (p.Leu1660=) | |
| 6 | g.129454165T>A | CA365616863 | LAMA2 | c.6584T>A (p.Leu2195Gln) c.6848T>A (p.Leu2283Gln) n.215T>A c.6581T>A (p.Leu2194Gln) c.6842T>A (p.Leu2281Gln) c.6854T>A (p.Leu2285Gln) c.4979T>A (p.Leu1660Gln) | |
| 6 | g.129454165T>C | CA365616864 | LAMA2 | c.6584T>C (p.Leu2195Pro) c.6848T>C (p.Leu2283Pro) n.215T>C c.6581T>C (p.Leu2194Pro) c.6842T>C (p.Leu2281Pro) c.6854T>C (p.Leu2285Pro) c.4979T>C (p.Leu1660Pro) | |
| 6 | g.129454165T>G | CA365616865 | LAMA2 | c.6584T>G (p.Leu2195Arg) c.6848T>G (p.Leu2283Arg) n.215T>G c.6581T>G (p.Leu2194Arg) c.6842T>G (p.Leu2281Arg) c.6854T>G (p.Leu2285Arg) c.4979T>G (p.Leu1660Arg) | |
| 6 | g.129454166G>A | CA451923423 | LAMA2 | c.6585G>A (p.Leu2195=) c.6849G>A (p.Leu2283=) n.216G>A c.6582G>A (p.Leu2194=) c.6843G>A (p.Leu2281=) c.6855G>A (p.Leu2285=) c.4980G>A (p.Leu1660=) | ClinVar |
| 6 | g.129454166G>C | CA451923424 | LAMA2 | c.6585G>C (p.Leu2195=) c.6849G>C (p.Leu2283=) n.216G>C c.6582G>C (p.Leu2194=) c.6843G>C (p.Leu2281=) c.6855G>C (p.Leu2285=) c.4980G>C (p.Leu1660=) | |
| 6 | g.129454166G>T | CA451923425 | LAMA2 | c.6585G>T (p.Leu2195=) c.6849G>T (p.Leu2283=) n.216G>T c.6582G>T (p.Leu2194=) c.6843G>T (p.Leu2281=) c.6855G>T (p.Leu2285=) c.4980G>T (p.Leu1660=) | |
| 6 | g.129454167G>A | CA365616867 | LAMA2 | c.6586G>A (p.Ala2196Thr) c.6850G>A (p.Ala2284Thr) n.217G>A c.6583G>A (p.Ala2195Thr) c.6844G>A (p.Ala2282Thr) c.6856G>A (p.Ala2286Thr) c.4981G>A (p.Ala1661Thr) | |
| 6 | g.129454167G>C | CA365616868 | LAMA2 | c.6586G>C (p.Ala2196Pro) c.6850G>C (p.Ala2284Pro) n.217G>C c.6583G>C (p.Ala2195Pro) c.6844G>C (p.Ala2282Pro) c.6856G>C (p.Ala2286Pro) c.4981G>C (p.Ala1661Pro) | |
| 6 | g.129454167G>T | CA365616869 | LAMA2 | c.6586G>T (p.Ala2196Ser) c.6850G>T (p.Ala2284Ser) n.217G>T c.6583G>T (p.Ala2195Ser) c.6844G>T (p.Ala2282Ser) c.6856G>T (p.Ala2286Ser) c.4981G>T (p.Ala1661Ser) | gnomAD v4 |
| 6 | g.129454168C>A | CA365616873 | LAMA2 | c.6587C>A (p.Ala2196Asp) c.6851C>A (p.Ala2284Asp) n.218C>A c.6584C>A (p.Ala2195Asp) c.6845C>A (p.Ala2282Asp) c.6857C>A (p.Ala2286Asp) c.4982C>A (p.Ala1661Asp) | |
| 6 | g.129454168C= | CA1663183449 | LAMA2 | c.6587C= (p.Ala2196=) c.6851C= (p.Ala2284=) n.218C= c.6584C= (p.Ala2195=) c.6845C= (p.Ala2282=) c.6857C= (p.Ala2286=) c.4982C= (p.Ala1661=) | |
| 6 | g.129454168C>G | CA365616872 | LAMA2 | c.6587C>G (p.Ala2196Gly) c.6851C>G (p.Ala2284Gly) n.218C>G c.6584C>G (p.Ala2195Gly) c.6845C>G (p.Ala2282Gly) c.6857C>G (p.Ala2286Gly) c.4982C>G (p.Ala1661Gly) | |
| 6 | g.129454168C>T | CA365616871 | LAMA2 | c.6587C>T (p.Ala2196Val) c.6851C>T (p.Ala2284Val) n.218C>T c.6584C>T (p.Ala2195Val) c.6845C>T (p.Ala2282Val) c.6857C>T (p.Ala2286Val) c.4982C>T (p.Ala1661Val) | |
| 6 | g.129454169T>A | CA451923427 | LAMA2 | c.6588T>A (p.Ala2196=) c.6852T>A (p.Ala2284=) n.219T>A c.6585T>A (p.Ala2195=) c.6846T>A (p.Ala2282=) c.6858T>A (p.Ala2286=) c.4983T>A (p.Ala1661=) | |
| 6 | g.129454169T>C | CA451923428 | LAMA2 | c.6588T>C (p.Ala2196=) c.6852T>C (p.Ala2284=) n.219T>C c.6585T>C (p.Ala2195=) c.6846T>C (p.Ala2282=) c.6858T>C (p.Ala2286=) c.4983T>C (p.Ala1661=) | gnomAD v4 |
| 6 | g.129454169T>G | CA451923429 | LAMA2 | c.6588T>G (p.Ala2196=) c.6852T>G (p.Ala2284=) n.219T>G c.6585T>G (p.Ala2195=) c.6846T>G (p.Ala2282=) c.6858T>G (p.Ala2286=) c.4983T>G (p.Ala1661=) | |
| 6 | g.129454169dup | CA570054018 | LAMA2 | c.6588dup (p.Ile2197TyrfsTer5) c.6852dup (p.Ile2285TyrfsTer5) n.219dup c.6585dup (p.Ile2196TyrfsTer5) c.6846dup (p.Ile2283TyrfsTer5) c.6858dup (p.Ile2287TyrfsTer5) c.4983dup (p.Ile1662TyrfsTer5) | ClinVar dbSNP gnomAD v2 |
| 6 | g.129454170A= | CA1663183452 | LAMA2 | c.6589A= (p.Ile2197=) c.6853A= (p.Ile2285=) n.220A= c.6586A= (p.Ile2196=) c.6847A= (p.Ile2283=) c.6859A= (p.Ile2287=) c.4984A= (p.Ile1662=) | |
| 6 | g.129454170A>C | CA365616875 | LAMA2 | c.6589A>C (p.Ile2197Leu) c.6853A>C (p.Ile2285Leu) n.220A>C c.6586A>C (p.Ile2196Leu) c.6847A>C (p.Ile2283Leu) c.6859A>C (p.Ile2287Leu) c.4984A>C (p.Ile1662Leu) | |
| 6 | g.129454170A>G | CA365616877 | LAMA2 | c.6589A>G (p.Ile2197Val) c.6853A>G (p.Ile2285Val) n.220A>G c.6586A>G (p.Ile2196Val) c.6847A>G (p.Ile2283Val) c.6859A>G (p.Ile2287Val) c.4984A>G (p.Ile1662Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129454170A>T | CA365616879 | LAMA2 | c.6589A>T (p.Ile2197Leu) c.6853A>T (p.Ile2285Leu) n.220A>T c.6586A>T (p.Ile2196Leu) c.6847A>T (p.Ile2283Leu) c.6859A>T (p.Ile2287Leu) c.4984A>T (p.Ile1662Leu) | |
| 6 | g.129454171T>A | CA365616881 | LAMA2 | c.6590T>A (p.Ile2197Lys) c.6854T>A (p.Ile2285Lys) n.221T>A c.6587T>A (p.Ile2196Lys) c.6848T>A (p.Ile2283Lys) c.6860T>A (p.Ile2287Lys) c.4985T>A (p.Ile1662Lys) | |
| 6 | g.129454171T>C | CA365616882 | LAMA2 | c.6590T>C (p.Ile2197Thr) c.6854T>C (p.Ile2285Thr) n.221T>C c.6587T>C (p.Ile2196Thr) c.6848T>C (p.Ile2283Thr) c.6860T>C (p.Ile2287Thr) c.4985T>C (p.Ile1662Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129454171T>G | CA365616884 | LAMA2 | c.6590T>G (p.Ile2197Arg) c.6854T>G (p.Ile2285Arg) n.221T>G c.6587T>G (p.Ile2196Arg) c.6848T>G (p.Ile2283Arg) c.6860T>G (p.Ile2287Arg) c.4985T>G (p.Ile1662Arg) | |
| 6 | g.129454171T= | CA1663183454 | LAMA2 | c.6590T= (p.Ile2197=) c.6854T= (p.Ile2285=) n.221T= c.6587T= (p.Ile2196=) c.6848T= (p.Ile2283=) c.6860T= (p.Ile2287=) c.4985T= (p.Ile1662=) | |
| 6 | g.129454172A>C | CA451923431 | LAMA2 | c.6591A>C (p.Ile2197=) c.6855A>C (p.Ile2285=) n.222A>C c.6588A>C (p.Ile2196=) c.6849A>C (p.Ile2283=) c.6861A>C (p.Ile2287=) c.4986A>C (p.Ile1662=) | |
| 6 | g.129454172A>G | CA365616886 | LAMA2 | c.6591A>G (p.Ile2197Met) c.6855A>G (p.Ile2285Met) n.222A>G c.6588A>G (p.Ile2196Met) c.6849A>G (p.Ile2283Met) c.6861A>G (p.Ile2287Met) c.4986A>G (p.Ile1662Met) | |
| 6 | g.129454172A>T | CA451923432 | LAMA2 | c.6591A>T (p.Ile2197=) c.6855A>T (p.Ile2285=) n.222A>T c.6588A>T (p.Ile2196=) c.6849A>T (p.Ile2283=) c.6861A>T (p.Ile2287=) c.4986A>T (p.Ile1662=) | |
| 6 | g.129454173G>A | CA365616888 | LAMA2 | c.6592G>A (p.Glu2198Lys) c.6856G>A (p.Glu2286Lys) n.223G>A c.6589G>A (p.Glu2197Lys) c.6850G>A (p.Glu2284Lys) c.6862G>A (p.Glu2288Lys) c.4987G>A (p.Glu1663Lys) | |
| 6 | g.129454173G>C | CA365616889 | LAMA2 | c.6592G>C (p.Glu2198Gln) c.6856G>C (p.Glu2286Gln) n.223G>C c.6589G>C (p.Glu2197Gln) c.6850G>C (p.Glu2284Gln) c.6862G>C (p.Glu2288Gln) c.4987G>C (p.Glu1663Gln) | |
| 6 | g.129454173G>T | CA365616891 | LAMA2 | c.6592G>T (p.Glu2198Ter) c.6856G>T (p.Glu2286Ter) n.223G>T c.6589G>T (p.Glu2197Ter) c.6850G>T (p.Glu2284Ter) c.6862G>T (p.Glu2288Ter) c.4987G>T (p.Glu1663Ter) | COSMIC |
| 6 | g.129454174A= | CA1663183457 | LAMA2 | c.6593A= (p.Glu2198=) c.6857A= (p.Glu2286=) n.224A= c.6590A= (p.Glu2197=) c.6851A= (p.Glu2284=) c.6863A= (p.Glu2288=) c.4988A= (p.Glu1663=) | |
| 6 | g.129454174A>C | CA3994314 | LAMA2 | c.6593A>C (p.Glu2198Ala) c.6857A>C (p.Glu2286Ala) n.224A>C c.6590A>C (p.Glu2197Ala) c.6851A>C (p.Glu2284Ala) c.6863A>C (p.Glu2288Ala) c.4988A>C (p.Glu1663Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129454174A>G | CA365616894 | LAMA2 | c.6593A>G (p.Glu2198Gly) c.6857A>G (p.Glu2286Gly) n.224A>G c.6590A>G (p.Glu2197Gly) c.6851A>G (p.Glu2284Gly) c.6863A>G (p.Glu2288Gly) c.4988A>G (p.Glu1663Gly) | gnomAD v4 |
| 6 | g.129454174A>T | CA365616896 | LAMA2 | c.6593A>T (p.Glu2198Val) c.6857A>T (p.Glu2286Val) n.224A>T c.6590A>T (p.Glu2197Val) c.6851A>T (p.Glu2284Val) c.6863A>T (p.Glu2288Val) c.4988A>T (p.Glu1663Val) | |
| 6 | g.129454175A= | CA1663183459 | LAMA2 | c.6594A= (p.Glu2198=) c.6858A= (p.Glu2286=) n.225A= c.6591A= (p.Glu2197=) c.6852A= (p.Glu2284=) c.6864A= (p.Glu2288=) c.4989A= (p.Glu1663=) | |
| 6 | g.129454175A>C | CA365616898 | LAMA2 | c.6594A>C (p.Glu2198Asp) c.6858A>C (p.Glu2286Asp) n.225A>C c.6591A>C (p.Glu2197Asp) c.6852A>C (p.Glu2284Asp) c.6864A>C (p.Glu2288Asp) c.4989A>C (p.Glu1663Asp) | |
| 6 | g.129454175A>G | CA451923434 | LAMA2 | c.6594A>G (p.Glu2198=) c.6858A>G (p.Glu2286=) n.225A>G c.6591A>G (p.Glu2197=) c.6852A>G (p.Glu2284=) c.6864A>G (p.Glu2288=) c.4989A>G (p.Glu1663=) | dbSNP gnomAD v2 |
| 6 | g.129454175A>T | CA365616897 | LAMA2 | c.6594A>T (p.Glu2198Asp) c.6858A>T (p.Glu2286Asp) n.225A>T c.6591A>T (p.Glu2197Asp) c.6852A>T (p.Glu2284Asp) c.6864A>T (p.Glu2288Asp) c.4989A>T (p.Glu1663Asp) | gnomAD v4 |
| 6 | g.129454176A>C | CA365616900 | LAMA2 | c.6595A>C (p.Met2199Leu) c.6859A>C (p.Met2287Leu) n.226A>C c.6592A>C (p.Met2198Leu) c.6853A>C (p.Met2285Leu) c.6865A>C (p.Met2289Leu) c.4990A>C (p.Met1664Leu) | |
| 6 | g.129454176A>G | CA365616902 | LAMA2 | c.6595A>G (p.Met2199Val) c.6859A>G (p.Met2287Val) n.226A>G c.6592A>G (p.Met2198Val) c.6853A>G (p.Met2285Val) c.6865A>G (p.Met2289Val) c.4990A>G (p.Met1664Val) | |
| 6 | g.129454176A>T | CA365616903 | LAMA2 | c.6595A>T (p.Met2199Leu) c.6859A>T (p.Met2287Leu) n.226A>T c.6592A>T (p.Met2198Leu) c.6853A>T (p.Met2285Leu) c.6865A>T (p.Met2289Leu) c.4990A>T (p.Met1664Leu) | |
| 6 | g.129454177T>A | CA365616905 | LAMA2 | c.6596T>A (p.Met2199Lys) c.6860T>A (p.Met2287Lys) n.227T>A c.6593T>A (p.Met2198Lys) c.6854T>A (p.Met2285Lys) c.6866T>A (p.Met2289Lys) c.4991T>A (p.Met1664Lys) | |
| 6 | g.129454177T>C | CA365616907 | LAMA2 | c.6596T>C (p.Met2199Thr) c.6860T>C (p.Met2287Thr) n.227T>C c.6593T>C (p.Met2198Thr) c.6854T>C (p.Met2285Thr) c.6866T>C (p.Met2289Thr) c.4991T>C (p.Met1664Thr) | |
| 6 | g.129454177T>G | CA365616909 | LAMA2 | c.6596T>G (p.Met2199Arg) c.6860T>G (p.Met2287Arg) n.227T>G c.6593T>G (p.Met2198Arg) c.6854T>G (p.Met2285Arg) c.6866T>G (p.Met2289Arg) c.4991T>G (p.Met1664Arg) | |
| 6 | g.129454178G>A | CA365616910 | LAMA2 | c.6597G>A (p.Met2199Ile) c.6861G>A (p.Met2287Ile) n.228G>A c.6594G>A (p.Met2198Ile) c.6855G>A (p.Met2285Ile) c.6867G>A (p.Met2289Ile) c.4992G>A (p.Met1664Ile) | ClinVar dbSNP |
| 6 | g.129454178G>C | CA365616912 | LAMA2 | c.6597G>C (p.Met2199Ile) c.6861G>C (p.Met2287Ile) n.228G>C c.6594G>C (p.Met2198Ile) c.6855G>C (p.Met2285Ile) c.6867G>C (p.Met2289Ile) c.4992G>C (p.Met1664Ile) | |
| 6 | g.129454178G= | CA1663183462 | LAMA2 | c.6597G= (p.Met2199=) c.6861G= (p.Met2287=) n.228G= c.6594G= (p.Met2198=) c.6855G= (p.Met2285=) c.6867G= (p.Met2289=) c.4992G= (p.Met1664=) | |
| 6 | g.129454178G>T | CA365616914 | LAMA2 | c.6597G>T (p.Met2199Ile) c.6861G>T (p.Met2287Ile) n.228G>T c.6594G>T (p.Met2198Ile) c.6855G>T (p.Met2285Ile) c.6867G>T (p.Met2289Ile) c.4992G>T (p.Met1664Ile) | |
| 6 | g.129454179C>A | CA365616915 | LAMA2 | c.6598C>A (p.Arg2200Ser) c.6862C>A (p.Arg2288Ser) n.229C>A c.6595C>A (p.Arg2199Ser) c.6856C>A (p.Arg2286Ser) c.6868C>A (p.Arg2290Ser) c.4993C>A (p.Arg1665Ser) | |
| 6 | g.129454179C= | CA1663183474 | LAMA2 | c.6598C= (p.Arg2200=) c.6862C= (p.Arg2288=) n.229C= c.6595C= (p.Arg2199=) c.6856C= (p.Arg2286=) c.6868C= (p.Arg2290=) c.4993C= (p.Arg1665=) | |
| 6 | g.129454179C>G | CA365616918 | LAMA2 | c.6598C>G (p.Arg2200Gly) c.6862C>G (p.Arg2288Gly) n.229C>G c.6595C>G (p.Arg2199Gly) c.6856C>G (p.Arg2286Gly) c.6868C>G (p.Arg2290Gly) c.4993C>G (p.Arg1665Gly) | |
| 6 | g.129454179C>T | CA3994315 | LAMA2 | c.6598C>T (p.Arg2200Cys) c.6862C>T (p.Arg2288Cys) n.229C>T c.6595C>T (p.Arg2199Cys) c.6856C>T (p.Arg2286Cys) c.6868C>T (p.Arg2290Cys) c.4993C>T (p.Arg1665Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129454180G>A | CA3994316 | LAMA2 | c.6599G>A (p.Arg2200His) c.6863G>A (p.Arg2288His) n.230G>A c.6596G>A (p.Arg2199His) c.6857G>A (p.Arg2286His) c.6869G>A (p.Arg2290His) c.4994G>A (p.Arg1665His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.129454180G>C | CA365616921 | LAMA2 | c.6599G>C (p.Arg2200Pro) c.6863G>C (p.Arg2288Pro) n.230G>C c.6596G>C (p.Arg2199Pro) c.6857G>C (p.Arg2286Pro) c.6869G>C (p.Arg2290Pro) c.4994G>C (p.Arg1665Pro) | |
| 6 | g.129454180G= | CA1663183483 | LAMA2 | c.6599G= (p.Arg2200=) c.6863G= (p.Arg2288=) n.230G= c.6596G= (p.Arg2199=) c.6857G= (p.Arg2286=) c.6869G= (p.Arg2290=) c.4994G= (p.Arg1665=) | |
| 6 | g.129454180G>T | CA365616919 | LAMA2 | c.6599G>T (p.Arg2200Leu) c.6863G>T (p.Arg2288Leu) n.230G>T c.6596G>T (p.Arg2199Leu) c.6857G>T (p.Arg2286Leu) c.6869G>T (p.Arg2290Leu) c.4994G>T (p.Arg1665Leu) | |
| 6 | g.129454181T>A | CA451923440 | LAMA2 | c.6600T>A (p.Arg2200=) c.6864T>A (p.Arg2288=) n.231T>A c.6597T>A (p.Arg2199=) c.6858T>A (p.Arg2286=) c.6870T>A (p.Arg2290=) c.4995T>A (p.Arg1665=) | |
| 6 | g.129454181T>C | CA451923438 | LAMA2 | c.6600T>C (p.Arg2200=) c.6864T>C (p.Arg2288=) n.231T>C c.6597T>C (p.Arg2199=) c.6858T>C (p.Arg2286=) c.6870T>C (p.Arg2290=) c.4995T>C (p.Arg1665=) | |
| 6 | g.129454181T>G | CA451923439 | LAMA2 | c.6600T>G (p.Arg2200=) c.6864T>G (p.Arg2288=) n.231T>G c.6597T>G (p.Arg2199=) c.6858T>G (p.Arg2286=) c.6870T>G (p.Arg2290=) c.4995T>G (p.Arg1665=) | |
| 6 | g.129454182A>C | CA365616924 | LAMA2 | c.6601A>C (p.Lys2201Gln) c.6865A>C (p.Lys2289Gln) n.232A>C c.6598A>C (p.Lys2200Gln) c.6859A>C (p.Lys2287Gln) c.6871A>C (p.Lys2291Gln) c.4996A>C (p.Lys1666Gln) | ClinVar |
| 6 | g.129454182A>G | CA365616927 | LAMA2 | c.6601A>G (p.Lys2201Glu) c.6865A>G (p.Lys2289Glu) n.232A>G c.6598A>G (p.Lys2200Glu) c.6859A>G (p.Lys2287Glu) c.6871A>G (p.Lys2291Glu) c.4996A>G (p.Lys1666Glu) | |
| 6 | g.129454182A>T | CA365616925 | LAMA2 | c.6601A>T (p.Lys2201Ter) c.6865A>T (p.Lys2289Ter) n.232A>T c.6598A>T (p.Lys2200Ter) c.6859A>T (p.Lys2287Ter) c.6871A>T (p.Lys2291Ter) c.4996A>T (p.Lys1666Ter) | |
| 6 | g.129454183A>C | CA365616929 | LAMA2 | c.6602A>C (p.Lys2201Thr) c.6866A>C (p.Lys2289Thr) n.233A>C c.6599A>C (p.Lys2200Thr) c.6860A>C (p.Lys2287Thr) c.6872A>C (p.Lys2291Thr) c.4997A>C (p.Lys1666Thr) | |
| 6 | g.129454183A>G | CA365616933 | LAMA2 | c.6602A>G (p.Lys2201Arg) c.6866A>G (p.Lys2289Arg) n.233A>G c.6599A>G (p.Lys2200Arg) c.6860A>G (p.Lys2287Arg) c.6872A>G (p.Lys2291Arg) c.4997A>G (p.Lys1666Arg) | |
| 6 | g.129454183A>T | CA365616931 | LAMA2 | c.6602A>T (p.Lys2201Ile) c.6866A>T (p.Lys2289Ile) n.233A>T c.6599A>T (p.Lys2200Ile) c.6860A>T (p.Lys2287Ile) c.6872A>T (p.Lys2291Ile) c.4997A>T (p.Lys1666Ile) | |
| 6 | g.129454184A>C | CA365616934 | LAMA2 | c.6603A>C (p.Lys2201Asn) c.6867A>C (p.Lys2289Asn) n.234A>C c.6600A>C (p.Lys2200Asn) c.6861A>C (p.Lys2287Asn) c.6873A>C (p.Lys2291Asn) c.4998A>C (p.Lys1666Asn) | |
| 6 | g.129454184A>G | CA451923444 | LAMA2 | c.6603A>G (p.Lys2201=) c.6867A>G (p.Lys2289=) n.234A>G c.6600A>G (p.Lys2200=) c.6861A>G (p.Lys2287=) c.6873A>G (p.Lys2291=) c.4998A>G (p.Lys1666=) | |
| 6 | g.129454184A>T | CA365616936 | LAMA2 | c.6603A>T (p.Lys2201Asn) c.6867A>T (p.Lys2289Asn) n.234A>T c.6600A>T (p.Lys2200Asn) c.6861A>T (p.Lys2287Asn) c.6873A>T (p.Lys2291Asn) c.4998A>T (p.Lys1666Asn) | |
| 6 | g.129454185G>A | CA365616938 | LAMA2 | c.6604G>A (p.Gly2202Ser) c.6868G>A (p.Gly2290Ser) n.235G>A c.6601G>A (p.Gly2201Ser) c.6862G>A (p.Gly2288Ser) c.6874G>A (p.Gly2292Ser) c.4999G>A (p.Gly1667Ser) | |
| 6 | g.129454185G>C | CA365616940 | LAMA2 | c.6604G>C (p.Gly2202Arg) c.6868G>C (p.Gly2290Arg) n.235G>C c.6601G>C (p.Gly2201Arg) c.6862G>C (p.Gly2288Arg) c.6874G>C (p.Gly2292Arg) c.4999G>C (p.Gly1667Arg) | |
| 6 | g.129454185G>T | CA365616941 | LAMA2 | c.6604G>T (p.Gly2202Cys) c.6868G>T (p.Gly2290Cys) n.235G>T c.6601G>T (p.Gly2201Cys) c.6862G>T (p.Gly2288Cys) c.6874G>T (p.Gly2292Cys) c.4999G>T (p.Gly1667Cys) | |
| 6 | g.129454186G>A | CA365616944 | LAMA2 | c.6605G>A (p.Gly2202Asp) c.6869G>A (p.Gly2290Asp) n.236G>A c.6602G>A (p.Gly2201Asp) c.6863G>A (p.Gly2288Asp) c.6875G>A (p.Gly2292Asp) c.5000G>A (p.Gly1667Asp) | |
| 6 | g.129454186G>C | CA365616945 | LAMA2 | c.6605G>C (p.Gly2202Ala) c.6869G>C (p.Gly2290Ala) n.236G>C c.6602G>C (p.Gly2201Ala) c.6863G>C (p.Gly2288Ala) c.6875G>C (p.Gly2292Ala) c.5000G>C (p.Gly1667Ala) | gnomAD v4 |
| 6 | g.129454186G= | CA1663183495 | LAMA2 | c.6605G= (p.Gly2202=) c.6869G= (p.Gly2290=) n.236G= c.6602G= (p.Gly2201=) c.6863G= (p.Gly2288=) c.6875G= (p.Gly2292=) c.5000G= (p.Gly1667=) | |
| 6 | g.129454186G>T | CA365616947 | LAMA2 | c.6605G>T (p.Gly2202Val) c.6869G>T (p.Gly2290Val) n.236G>T c.6602G>T (p.Gly2201Val) c.6863G>T (p.Gly2288Val) c.6875G>T (p.Gly2292Val) c.5000G>T (p.Gly1667Val) | ClinVar dbSNP COSMIC |
| 6 | g.129454187C>A | CA451923446 | LAMA2 | c.6606C>A (p.Gly2202=) c.6870C>A (p.Gly2290=) n.237C>A c.6603C>A (p.Gly2201=) c.6864C>A (p.Gly2288=) c.6876C>A (p.Gly2292=) c.5001C>A (p.Gly1667=) | ClinVar |
| 6 | g.129454187C>G | CA451923445 | LAMA2 | c.6606C>G (p.Gly2202=) c.6870C>G (p.Gly2290=) n.237C>G c.6603C>G (p.Gly2201=) c.6864C>G (p.Gly2288=) c.6876C>G (p.Gly2292=) c.5001C>G (p.Gly1667=) | |
| 6 | g.129454187C>T | CA451923447 | LAMA2 | c.6606C>T (p.Gly2202=) c.6870C>T (p.Gly2290=) n.237C>T c.6603C>T (p.Gly2201=) c.6864C>T (p.Gly2288=) c.6876C>T (p.Gly2292=) c.5001C>T (p.Gly1667=) | |
| 6 | g.129454187_129454189delinsCAA | CA1663183499 | LAMA2 | c.6606_6608delinsCAA (p.Gly2202=) c.6870_6872delinsCAA (p.Gly2290=) n.237_239delinsCAA c.6603_6605delinsCAA (p.Gly2201=) c.6864_6866delinsCAA (p.Gly2288=) c.6876_6878delinsCAA (p.Gly2292=) c.5001_5003delinsCAA (p.Gly1667=) | |
| 6 | g.129454188A>C | CA365616949 | LAMA2 | c.6607A>C (p.Lys2203Gln) c.6871A>C (p.Lys2291Gln) n.238A>C c.6604A>C (p.Lys2202Gln) c.6865A>C (p.Lys2289Gln) c.6877A>C (p.Lys2293Gln) c.5002A>C (p.Lys1668Gln) | |
| 6 | g.129454188A>G | CA365616951 | LAMA2 | c.6607A>G (p.Lys2203Glu) c.6871A>G (p.Lys2291Glu) n.238A>G c.6604A>G (p.Lys2202Glu) c.6865A>G (p.Lys2289Glu) c.6877A>G (p.Lys2293Glu) c.5002A>G (p.Lys1668Glu) | |
| 6 | g.129454188A>T | CA365616952 | LAMA2 | c.6607A>T (p.Lys2203Ter) c.6871A>T (p.Lys2291Ter) n.238A>T c.6604A>T (p.Lys2202Ter) c.6865A>T (p.Lys2289Ter) c.6877A>T (p.Lys2293Ter) c.5002A>T (p.Lys1668Ter) | |
| 6 | g.129454189_129454190del | CA818863957 | LAMA2 | c.6608_6609del (p.Lys2203SerfsTer22) c.6872_6873del (p.Lys2291SerfsTer22) n.239_240del c.6605_6606del (p.Lys2202SerfsTer22) c.6866_6867del (p.Lys2289SerfsTer22) c.6878_6879del (p.Lys2293SerfsTer22) c.5003_5004del (p.Lys1668SerfsTer22) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129454189A>C | CA365616954 | LAMA2 | c.6608A>C (p.Lys2203Thr) c.6872A>C (p.Lys2291Thr) n.239A>C c.6605A>C (p.Lys2202Thr) c.6866A>C (p.Lys2289Thr) c.6878A>C (p.Lys2293Thr) c.5003A>C (p.Lys1668Thr) | |
| 6 | g.129454189A>G | CA365616955 | LAMA2 | c.6608A>G (p.Lys2203Arg) c.6872A>G (p.Lys2291Arg) n.239A>G c.6605A>G (p.Lys2202Arg) c.6866A>G (p.Lys2289Arg) c.6878A>G (p.Lys2293Arg) c.5003A>G (p.Lys1668Arg) | |
| 6 | g.129454189A>T | CA365616957 | LAMA2 | c.6608A>T (p.Lys2203Ile) c.6872A>T (p.Lys2291Ile) n.239A>T c.6605A>T (p.Lys2202Ile) c.6866A>T (p.Lys2289Ile) c.6878A>T (p.Lys2293Ile) c.5003A>T (p.Lys1668Ile) | |
| 6 | g.129454190A>C | CA365616960 | LAMA2 | c.6609A>C (p.Lys2203Asn) c.6873A>C (p.Lys2291Asn) n.240A>C c.6606A>C (p.Lys2202Asn) c.6867A>C (p.Lys2289Asn) c.6879A>C (p.Lys2293Asn) c.5004A>C (p.Lys1668Asn) | |
| 6 | g.129454190A>G | CA451923449 | LAMA2 | c.6609A>G (p.Lys2203=) c.6873A>G (p.Lys2291=) n.240A>G c.6606A>G (p.Lys2202=) c.6867A>G (p.Lys2289=) c.6879A>G (p.Lys2293=) c.5004A>G (p.Lys1668=) | |
| 6 | g.129454190A>T | CA365616959 | LAMA2 | c.6609A>T (p.Lys2203Asn) c.6873A>T (p.Lys2291Asn) n.240A>T c.6606A>T (p.Lys2202Asn) c.6867A>T (p.Lys2289Asn) c.6879A>T (p.Lys2293Asn) c.5004A>T (p.Lys1668Asn) | |
| 6 | g.129454191G>A | CA365616962 | LAMA2 | c.6610G>A (p.Val2204Ile) c.6874G>A (p.Val2292Ile) n.241G>A c.6607G>A (p.Val2203Ile) c.6868G>A (p.Val2290Ile) c.6880G>A (p.Val2294Ile) c.5005G>A (p.Val1669Ile) | |
| 6 | g.129454191G>C | CA146884268 | LAMA2 | c.6610G>C (p.Val2204Leu) c.6874G>C (p.Val2292Leu) n.241G>C c.6607G>C (p.Val2203Leu) c.6868G>C (p.Val2290Leu) c.6880G>C (p.Val2294Leu) c.5005G>C (p.Val1669Leu) | dbSNP |
| 6 | g.129454191G= | CA1663183506 | LAMA2 | c.6610G= (p.Val2204=) c.6874G= (p.Val2292=) n.241G= c.6607G= (p.Val2203=) c.6868G= (p.Val2290=) c.6880G= (p.Val2294=) c.5005G= (p.Val1669=) | |
| 6 | g.129454191G>T | CA365616965 | LAMA2 | c.6610G>T (p.Val2204Phe) c.6874G>T (p.Val2292Phe) n.241G>T c.6607G>T (p.Val2203Phe) c.6868G>T (p.Val2290Phe) c.6880G>T (p.Val2294Phe) c.5005G>T (p.Val1669Phe) | |
| 6 | g.129454192T>A | CA365616967 | LAMA2 | c.6611T>A (p.Val2204Asp) c.6875T>A (p.Val2292Asp) n.242T>A c.6608T>A (p.Val2203Asp) c.6869T>A (p.Val2290Asp) c.6881T>A (p.Val2294Asp) c.5006T>A (p.Val1669Asp) | |
| 6 | g.129454192T>C | CA365616968 | LAMA2 | c.6611T>C (p.Val2204Ala) c.6875T>C (p.Val2292Ala) n.242T>C c.6608T>C (p.Val2203Ala) c.6869T>C (p.Val2290Ala) c.6881T>C (p.Val2294Ala) c.5006T>C (p.Val1669Ala) | |
| 6 | g.129454192T>G | CA365616969 | LAMA2 | c.6611T>G (p.Val2204Gly) c.6875T>G (p.Val2292Gly) n.242T>G c.6608T>G (p.Val2203Gly) c.6869T>G (p.Val2290Gly) c.6881T>G (p.Val2294Gly) c.5006T>G (p.Val1669Gly) | |
| 6 | g.129454193C>A | CA451923450 | LAMA2 | c.6612C>A (p.Val2204=) c.6876C>A (p.Val2292=) n.243C>A c.6609C>A (p.Val2203=) c.6870C>A (p.Val2290=) c.6882C>A (p.Val2294=) c.5007C>A (p.Val1669=) | |
| 6 | g.129454193C>G | CA451923452 | LAMA2 | c.6612C>G (p.Val2204=) c.6876C>G (p.Val2292=) n.243C>G c.6609C>G (p.Val2203=) c.6870C>G (p.Val2290=) c.6882C>G (p.Val2294=) c.5007C>G (p.Val1669=) | dbSNP |
| 6 | g.129454193C>T | CA451923451 | LAMA2 | c.6612C>T (p.Val2204=) c.6876C>T (p.Val2292=) n.243C>T c.6609C>T (p.Val2203=) c.6870C>T (p.Val2290=) c.6882C>T (p.Val2294=) c.5007C>T (p.Val1669=) | |
| 6 | g.129454194A>C | CA365616971 | LAMA2 | c.6613A>C (p.Ser2205Arg) c.6877A>C (p.Ser2293Arg) n.244A>C c.6610A>C (p.Ser2204Arg) c.6871A>C (p.Ser2291Arg) c.6883A>C (p.Ser2295Arg) c.5008A>C (p.Ser1670Arg) | |
| 6 | g.129454194A>G | CA365616972 | LAMA2 | c.6613A>G (p.Ser2205Gly) c.6877A>G (p.Ser2293Gly) n.244A>G c.6610A>G (p.Ser2204Gly) c.6871A>G (p.Ser2291Gly) c.6883A>G (p.Ser2295Gly) c.5008A>G (p.Ser1670Gly) | |
| 6 | g.129454194A>T | CA365616974 | LAMA2 | c.6613A>T (p.Ser2205Cys) c.6877A>T (p.Ser2293Cys) n.244A>T c.6610A>T (p.Ser2204Cys) c.6871A>T (p.Ser2291Cys) c.6883A>T (p.Ser2295Cys) c.5008A>T (p.Ser1670Cys) | |
| 6 | g.129454195G>A | CA365616976 | LAMA2 | c.6614G>A (p.Ser2205Asn) c.6878G>A (p.Ser2293Asn) n.245G>A c.6611G>A (p.Ser2204Asn) c.6872G>A (p.Ser2291Asn) c.6884G>A (p.Ser2295Asn) c.5009G>A (p.Ser1670Asn) | |
| 6 | g.129454195G>C | CA365616978 | LAMA2 | c.6614G>C (p.Ser2205Thr) c.6878G>C (p.Ser2293Thr) n.245G>C c.6611G>C (p.Ser2204Thr) c.6872G>C (p.Ser2291Thr) c.6884G>C (p.Ser2295Thr) c.5009G>C (p.Ser1670Thr) | dbSNP |
| 6 | g.129454195G= | CA1663183510 | LAMA2 | c.6614G= (p.Ser2205=) c.6878G= (p.Ser2293=) n.245G= c.6611G= (p.Ser2204=) c.6872G= (p.Ser2291=) c.6884G= (p.Ser2295=) c.5009G= (p.Ser1670=) | |
| 6 | g.129454195G>T | CA365616979 | LAMA2 | c.6614G>T (p.Ser2205Ile) c.6878G>T (p.Ser2293Ile) n.245G>T c.6611G>T (p.Ser2204Ile) c.6872G>T (p.Ser2291Ile) c.6884G>T (p.Ser2295Ile) c.5009G>T (p.Ser1670Ile) | |
| 6 | g.129454196C>A | CA365616981 | LAMA2 | c.6615C>A (p.Ser2205Arg) c.6879C>A (p.Ser2293Arg) n.246C>A c.6612C>A (p.Ser2204Arg) c.6873C>A (p.Ser2291Arg) c.6885C>A (p.Ser2295Arg) c.5010C>A (p.Ser1670Arg) | |
| 6 | g.129454196C>G | CA365616983 | LAMA2 | c.6615C>G (p.Ser2205Arg) c.6879C>G (p.Ser2293Arg) n.246C>G c.6612C>G (p.Ser2204Arg) c.6873C>G (p.Ser2291Arg) c.6885C>G (p.Ser2295Arg) c.5010C>G (p.Ser1670Arg) | |
| 6 | g.129454196C>T | CA451923456 | LAMA2 | c.6615C>T (p.Ser2205=) c.6879C>T (p.Ser2293=) n.246C>T c.6612C>T (p.Ser2204=) c.6873C>T (p.Ser2291=) c.6885C>T (p.Ser2295=) c.5010C>T (p.Ser1670=) | |
| 6 | g.129454196_129454197delinsCT | CA1663183513 | LAMA2 | c.6615_6616delinsCT (p.Ser2205=) c.6879_6880delinsCT (p.Ser2293=) n.246_247delinsCT c.6612_6613delinsCT (p.Ser2204=) c.6873_6874delinsCT (p.Ser2291=) c.6885_6886delinsCT (p.Ser2295=) c.5010_5011delinsCT (p.Ser1670=) | |
| 6 | g.129454197T>A | CA365616987 | LAMA2 | c.6616T>A (p.Phe2206Ile) c.6880T>A (p.Phe2294Ile) n.247T>A c.6613T>A (p.Phe2205Ile) c.6874T>A (p.Phe2292Ile) c.6886T>A (p.Phe2296Ile) c.5011T>A (p.Phe1671Ile) | |
| 6 | g.129454197T>C | CA365616988 | LAMA2 | c.6616T>C (p.Phe2206Leu) c.6880T>C (p.Phe2294Leu) n.247T>C c.6613T>C (p.Phe2205Leu) c.6874T>C (p.Phe2292Leu) c.6886T>C (p.Phe2296Leu) c.5011T>C (p.Phe1671Leu) | gnomAD v4 |
| 6 | g.129454197T>G | CA365616990 | LAMA2 | c.6616T>G (p.Phe2206Val) c.6880T>G (p.Phe2294Val) n.247T>G c.6613T>G (p.Phe2205Val) c.6874T>G (p.Phe2292Val) c.6886T>G (p.Phe2296Val) c.5011T>G (p.Phe1671Val) | |
| 6 | g.129454198del | CA146884271 | LAMA2 | c.6617del (p.Phe2206SerfsTer12) c.6881del (p.Phe2294SerfsTer12) n.248del c.6614del (p.Phe2205SerfsTer12) c.6875del (p.Phe2292SerfsTer12) c.6887del (p.Phe2296SerfsTer12) c.5012del (p.Phe1671SerfsTer12) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129454198T>A | CA365616994 | LAMA2 | c.6617T>A (p.Phe2206Tyr) c.6881T>A (p.Phe2294Tyr) n.248T>A c.6614T>A (p.Phe2205Tyr) c.6875T>A (p.Phe2292Tyr) c.6887T>A (p.Phe2296Tyr) c.5012T>A (p.Phe1671Tyr) | |
| 6 | g.129454198T>C | CA365616996 | LAMA2 | c.6617T>C (p.Phe2206Ser) c.6881T>C (p.Phe2294Ser) n.248T>C c.6614T>C (p.Phe2205Ser) c.6875T>C (p.Phe2292Ser) c.6887T>C (p.Phe2296Ser) c.5012T>C (p.Phe1671Ser) | |
| 6 | g.129454198T>G | CA365616997 | LAMA2 | c.6617T>G (p.Phe2206Cys) c.6881T>G (p.Phe2294Cys) n.248T>G c.6614T>G (p.Phe2205Cys) c.6875T>G (p.Phe2292Cys) c.6887T>G (p.Phe2296Cys) c.5012T>G (p.Phe1671Cys) | |
| 6 | g.129454199C>A | CA365616998 | LAMA2 | c.6618C>A (p.Phe2206Leu) c.6882C>A (p.Phe2294Leu) n.249C>A c.6615C>A (p.Phe2205Leu) c.6876C>A (p.Phe2292Leu) c.6888C>A (p.Phe2296Leu) c.5013C>A (p.Phe1671Leu) | |
| 6 | g.129454199C= | CA1663183520 | LAMA2 | c.6618C= (p.Phe2206=) c.6882C= (p.Phe2294=) n.249C= c.6615C= (p.Phe2205=) c.6876C= (p.Phe2292=) c.6888C= (p.Phe2296=) c.5013C= (p.Phe1671=) | |
| 6 | g.129454199C>G | CA365616999 | LAMA2 | c.6618C>G (p.Phe2206Leu) c.6882C>G (p.Phe2294Leu) n.249C>G c.6615C>G (p.Phe2205Leu) c.6876C>G (p.Phe2292Leu) c.6888C>G (p.Phe2296Leu) c.5013C>G (p.Phe1671Leu) | |
| 6 | g.129454199C>T | CA3994317 | LAMA2 | c.6618C>T (p.Phe2206=) c.6882C>T (p.Phe2294=) n.249C>T c.6615C>T (p.Phe2205=) c.6876C>T (p.Phe2292=) c.6888C>T (p.Phe2296=) c.5013C>T (p.Phe1671=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129454200C>A | CA365617003 | LAMA2 | c.6619C>A (p.Leu2207Ile) c.6883C>A (p.Leu2295Ile) n.250C>A c.6616C>A (p.Leu2206Ile) c.6877C>A (p.Leu2293Ile) c.6889C>A (p.Leu2297Ile) c.5014C>A (p.Leu1672Ile) | |
| 6 | g.129454200C>G | CA365617002 | LAMA2 | c.6619C>G (p.Leu2207Val) c.6883C>G (p.Leu2295Val) n.250C>G c.6616C>G (p.Leu2206Val) c.6877C>G (p.Leu2293Val) c.6889C>G (p.Leu2297Val) c.5014C>G (p.Leu1672Val) | |
| 6 | g.129454200C>T | CA365617001 | LAMA2 | c.6619C>T (p.Leu2207Phe) c.6883C>T (p.Leu2295Phe) n.250C>T c.6616C>T (p.Leu2206Phe) c.6877C>T (p.Leu2293Phe) c.6889C>T (p.Leu2297Phe) c.5014C>T (p.Leu1672Phe) | |
| 6 | g.129454201T>A | CA365617006 | LAMA2 | c.6620T>A (p.Leu2207His) c.6884T>A (p.Leu2295His) n.251T>A c.6617T>A (p.Leu2206His) c.6878T>A (p.Leu2293His) c.6890T>A (p.Leu2297His) c.5015T>A (p.Leu1672His) | |
| 6 | g.129454201T>C | CA365617008 | LAMA2 | c.6620T>C (p.Leu2207Pro) c.6884T>C (p.Leu2295Pro) n.251T>C c.6617T>C (p.Leu2206Pro) c.6878T>C (p.Leu2293Pro) c.6890T>C (p.Leu2297Pro) c.5015T>C (p.Leu1672Pro) | |
| 6 | g.129454201T>G | CA365617009 | LAMA2 | c.6620T>G (p.Leu2207Arg) c.6884T>G (p.Leu2295Arg) n.251T>G c.6617T>G (p.Leu2206Arg) c.6878T>G (p.Leu2293Arg) c.6890T>G (p.Leu2297Arg) c.5015T>G (p.Leu1672Arg) | |
| 6 | g.129454202C>A | CA451923461 | LAMA2 | c.6621C>A (p.Leu2207=) c.6885C>A (p.Leu2295=) n.252C>A c.6618C>A (p.Leu2206=) c.6879C>A (p.Leu2293=) c.6891C>A (p.Leu2297=) c.5016C>A (p.Leu1672=) | |
| 6 | g.129454202C>G | CA451923460 | LAMA2 | c.6621C>G (p.Leu2207=) c.6885C>G (p.Leu2295=) n.252C>G c.6618C>G (p.Leu2206=) c.6879C>G (p.Leu2293=) c.6891C>G (p.Leu2297=) c.5016C>G (p.Leu1672=) | |
| 6 | g.129454202C>T | CA451923459 | LAMA2 | c.6621C>T (p.Leu2207=) c.6885C>T (p.Leu2295=) n.252C>T c.6618C>T (p.Leu2206=) c.6879C>T (p.Leu2293=) c.6891C>T (p.Leu2297=) c.5016C>T (p.Leu1672=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129454203T>A | CA365617010 | LAMA2 | c.6622T>A (p.Trp2208Arg) c.6886T>A (p.Trp2296Arg) n.253T>A c.6619T>A (p.Trp2207Arg) c.6880T>A (p.Trp2294Arg) c.6892T>A (p.Trp2298Arg) c.5017T>A (p.Trp1673Arg) | |
| 6 | g.129454203T>C | CA365617011 | LAMA2 | c.6622T>C (p.Trp2208Arg) c.6886T>C (p.Trp2296Arg) n.253T>C c.6619T>C (p.Trp2207Arg) c.6880T>C (p.Trp2294Arg) c.6892T>C (p.Trp2298Arg) c.5017T>C (p.Trp1673Arg) | |
| 6 | g.129454203T>G | CA365617013 | LAMA2 | c.6622T>G (p.Trp2208Gly) c.6886T>G (p.Trp2296Gly) n.253T>G c.6619T>G (p.Trp2207Gly) c.6880T>G (p.Trp2294Gly) c.6892T>G (p.Trp2298Gly) c.5017T>G (p.Trp1673Gly) | |
| 6 | g.129454204G>A | CA365617015 | LAMA2 | c.6623G>A (p.Trp2208Ter) c.6887G>A (p.Trp2296Ter) n.254G>A c.6620G>A (p.Trp2207Ter) c.6881G>A (p.Trp2294Ter) c.6893G>A (p.Trp2298Ter) c.5018G>A (p.Trp1673Ter) | ClinVar |
| 6 | g.129454204G>C | CA365617017 | LAMA2 | c.6623G>C (p.Trp2208Ser) c.6887G>C (p.Trp2296Ser) n.254G>C c.6620G>C (p.Trp2207Ser) c.6881G>C (p.Trp2294Ser) c.6893G>C (p.Trp2298Ser) c.5018G>C (p.Trp1673Ser) | |
| 6 | g.129454204G>T | CA365617018 | LAMA2 | c.6623G>T (p.Trp2208Leu) c.6887G>T (p.Trp2296Leu) n.254G>T c.6620G>T (p.Trp2207Leu) c.6881G>T (p.Trp2294Leu) c.6893G>T (p.Trp2298Leu) c.5018G>T (p.Trp1673Leu) | |
| 6 | g.129454205G>A | CA365617020 | LAMA2 | c.6624G>A (p.Trp2208Ter) c.6888G>A (p.Trp2296Ter) n.255G>A c.6621G>A (p.Trp2207Ter) c.6882G>A (p.Trp2294Ter) c.6894G>A (p.Trp2298Ter) c.5019G>A (p.Trp1673Ter) | |
| 6 | g.129454205G>C | CA365617021 | LAMA2 | c.6624G>C (p.Trp2208Cys) c.6888G>C (p.Trp2296Cys) n.255G>C c.6621G>C (p.Trp2207Cys) c.6882G>C (p.Trp2294Cys) c.6894G>C (p.Trp2298Cys) c.5019G>C (p.Trp1673Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129454205G= | CA1663183527 | LAMA2 | c.6624G= (p.Trp2208=) c.6888G= (p.Trp2296=) n.255G= c.6621G= (p.Trp2207=) c.6882G= (p.Trp2294=) c.6894G= (p.Trp2298=) c.5019G= (p.Trp1673=) | |
| 6 | g.129454205G>T | CA365617023 | LAMA2 | c.6624G>T (p.Trp2208Cys) c.6888G>T (p.Trp2296Cys) n.255G>T c.6621G>T (p.Trp2207Cys) c.6882G>T (p.Trp2294Cys) c.6894G>T (p.Trp2298Cys) c.5019G>T (p.Trp1673Cys) | gnomAD v4 |
| 6 | g.129454206G>A | CA365617025 | LAMA2 | c.6625G>A (p.Asp2209Asn) c.6889G>A (p.Asp2297Asn) n.256G>A c.6622G>A (p.Asp2208Asn) c.6883G>A (p.Asp2295Asn) c.6895G>A (p.Asp2299Asn) c.5020G>A (p.Asp1674Asn) | |
| 6 | g.129454206G>C | CA365617027 | LAMA2 | c.6625G>C (p.Asp2209His) c.6889G>C (p.Asp2297His) n.256G>C c.6622G>C (p.Asp2208His) c.6883G>C (p.Asp2295His) c.6895G>C (p.Asp2299His) c.5020G>C (p.Asp1674His) | |
| 6 | g.129454206G>T | CA365617024 | LAMA2 | c.6625G>T (p.Asp2209Tyr) c.6889G>T (p.Asp2297Tyr) n.256G>T c.6622G>T (p.Asp2208Tyr) c.6883G>T (p.Asp2295Tyr) c.6895G>T (p.Asp2299Tyr) c.5020G>T (p.Asp1674Tyr) | |
| 6 | g.129454207A>C | CA365617029 | LAMA2 | c.6626A>C (p.Asp2209Ala) c.6890A>C (p.Asp2297Ala) n.257A>C c.6623A>C (p.Asp2208Ala) c.6884A>C (p.Asp2295Ala) c.6896A>C (p.Asp2299Ala) c.5021A>C (p.Asp1674Ala) | |
| 6 | g.129454207A>G | CA365617031 | LAMA2 | c.6626A>G (p.Asp2209Gly) c.6890A>G (p.Asp2297Gly) n.257A>G c.6623A>G (p.Asp2208Gly) c.6884A>G (p.Asp2295Gly) c.6896A>G (p.Asp2299Gly) c.5021A>G (p.Asp1674Gly) | |
| 6 | g.129454207A>T | CA365617032 | LAMA2 | c.6626A>T (p.Asp2209Val) c.6890A>T (p.Asp2297Val) n.257A>T c.6623A>T (p.Asp2208Val) c.6884A>T (p.Asp2295Val) c.6896A>T (p.Asp2299Val) c.5021A>T (p.Asp1674Val) | |
| 6 | g.129454208T>A | CA365617034 | LAMA2 | c.6627T>A (p.Asp2209Glu) c.6891T>A (p.Asp2297Glu) n.258T>A c.6624T>A (p.Asp2208Glu) c.6885T>A (p.Asp2295Glu) c.6897T>A (p.Asp2299Glu) c.5022T>A (p.Asp1674Glu) | |
| 6 | g.129454208T>C | CA451923464 | LAMA2 | c.6627T>C (p.Asp2209=) c.6891T>C (p.Asp2297=) n.258T>C c.6624T>C (p.Asp2208=) c.6885T>C (p.Asp2295=) c.6897T>C (p.Asp2299=) c.5022T>C (p.Asp1674=) | |
| 6 | g.129454208T>G | CA365617036 | LAMA2 | c.6627T>G (p.Asp2209Glu) c.6891T>G (p.Asp2297Glu) n.258T>G c.6624T>G (p.Asp2208Glu) c.6885T>G (p.Asp2295Glu) c.6897T>G (p.Asp2299Glu) c.5022T>G (p.Asp1674Glu) | |
| 6 | g.129454209G>A | CA365617042 | LAMA2 | c.6628G>A (p.Val2210Ile) c.6892G>A (p.Val2298Ile) n.259G>A c.6625G>A (p.Val2209Ile) c.6886G>A (p.Val2296Ile) c.6898G>A (p.Val2300Ile) c.5023G>A (p.Val1675Ile) | ClinVar dbSNP |
| 6 | g.129454209G>C | CA365617040 | LAMA2 | c.6628G>C (p.Val2210Leu) c.6892G>C (p.Val2298Leu) n.259G>C c.6625G>C (p.Val2209Leu) c.6886G>C (p.Val2296Leu) c.6898G>C (p.Val2300Leu) c.5023G>C (p.Val1675Leu) | |
| 6 | g.129454209G>T | CA365617038 | LAMA2 | c.6628G>T (p.Val2210Phe) c.6892G>T (p.Val2298Phe) n.259G>T c.6625G>T (p.Val2209Phe) c.6886G>T (p.Val2296Phe) c.6898G>T (p.Val2300Phe) c.5023G>T (p.Val1675Phe) | |
| 6 | g.129454210T>A | CA365617043 | LAMA2 | c.6629T>A (p.Val2210Asp) c.6893T>A (p.Val2298Asp) n.260T>A c.6626T>A (p.Val2209Asp) c.6887T>A (p.Val2296Asp) c.6899T>A (p.Val2300Asp) c.5024T>A (p.Val1675Asp) | |
| 6 | g.129454210T>C | CA245792 | LAMA2 | c.6629T>C (p.Val2210Ala) c.6893T>C (p.Val2298Ala) n.260T>C c.6626T>C (p.Val2209Ala) c.6887T>C (p.Val2296Ala) c.6899T>C (p.Val2300Ala) c.5024T>C (p.Val1675Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129454210T>G | CA365617046 | LAMA2 | c.6629T>G (p.Val2210Gly) c.6893T>G (p.Val2298Gly) n.260T>G c.6626T>G (p.Val2209Gly) c.6887T>G (p.Val2296Gly) c.6899T>G (p.Val2300Gly) c.5024T>G (p.Val1675Gly) | |
| 6 | g.129454210T= | CA1663183532 | LAMA2 | c.6629T= (p.Val2210=) c.6893T= (p.Val2298=) n.260T= c.6626T= (p.Val2209=) c.6887T= (p.Val2296=) c.6899T= (p.Val2300=) c.5024T= (p.Val1675=) | |
| 6 | g.129454211del | CA2680307699 | LAMA2 | c.6630del (p.Gly2211AspfsTer7) c.6894del (p.Gly2299AspfsTer7) n.261del c.6627del (p.Gly2210AspfsTer7) c.6888del (p.Gly2297AspfsTer7) c.6900del (p.Gly2301AspfsTer7) c.5025del (p.Gly1676AspfsTer7) | gnomAD v4 |