| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129465108G>A | CA3994468 | LAMA2 | c.7156-37G>A (n.7156-37G>A) c.7420-37G>A (n.7420-37G>A) n.787-37G>A n.495-37G>A c.7153-37G>A (n.7153-37G>A) c.7414-37G>A (n.7414-37G>A) c.7426-37G>A (n.7426-37G>A) c.5551-37G>A (n.5551-37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465108G= | CA1663192517 | LAMA2 | c.7156-37G= (n.7156-37G=) c.7420-37G= (n.7420-37G=) n.787-37G= n.495-37G= c.7153-37G= (n.7153-37G=) c.7414-37G= (n.7414-37G=) c.7426-37G= (n.7426-37G=) c.5551-37G= (n.5551-37G=) | |
| 6 | g.129465108G>T | CA2680307765 | LAMA2 | c.7156-37G>T (n.7156-37G>T) c.7420-37G>T (n.7420-37G>T) n.787-37G>T n.495-37G>T c.7153-37G>T (n.7153-37G>T) c.7414-37G>T (n.7414-37G>T) c.7426-37G>T (n.7426-37G>T) c.5551-37G>T (n.5551-37G>T) | gnomAD v4 |
| 6 | g.129465111T>C | CA570054630 | LAMA2 | c.7156-34T>C (n.7156-34T>C) c.7420-34T>C (n.7420-34T>C) n.787-34T>C n.495-34T>C c.7153-34T>C (n.7153-34T>C) c.7414-34T>C (n.7414-34T>C) c.7426-34T>C (n.7426-34T>C) c.5551-34T>C (n.5551-34T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465111T= | CA1663192519 | LAMA2 | c.7156-34T= (n.7156-34T=) c.7420-34T= (n.7420-34T=) n.787-34T= n.495-34T= c.7153-34T= (n.7153-34T=) c.7414-34T= (n.7414-34T=) c.7426-34T= (n.7426-34T=) c.5551-34T= (n.5551-34T=) | |
| 6 | g.129465112C>A | CA2680307767 | LAMA2 | c.7156-33C>A (n.7156-33C>A) c.7420-33C>A (n.7420-33C>A) n.787-33C>A n.495-33C>A c.7153-33C>A (n.7153-33C>A) c.7414-33C>A (n.7414-33C>A) c.7426-33C>A (n.7426-33C>A) c.5551-33C>A (n.5551-33C>A) | gnomAD v4 |
| 6 | g.129465113T>C | CA2680307769 | LAMA2 | c.7156-32T>C (n.7156-32T>C) c.7420-32T>C (n.7420-32T>C) n.787-32T>C n.495-32T>C c.7153-32T>C (n.7153-32T>C) c.7414-32T>C (n.7414-32T>C) c.7426-32T>C (n.7426-32T>C) c.5551-32T>C (n.5551-32T>C) | gnomAD v4 |
| 6 | g.129465114A>G | CA2773037989 | LAMA2 | c.7156-31A>G (n.7156-31A>G) c.7420-31A>G (n.7420-31A>G) n.787-31A>G n.495-31A>G c.7153-31A>G (n.7153-31A>G) c.7414-31A>G (n.7414-31A>G) c.7426-31A>G (n.7426-31A>G) c.5551-31A>G (n.5551-31A>G) | |
| 6 | g.129465115del | CA2578756817 | LAMA2 | c.7156-30del (n.7156-30del) c.7420-30del (n.7420-30del) n.787-30del n.495-30del c.7153-30del (n.7153-30del) c.7414-30del (n.7414-30del) c.7426-30del (n.7426-30del) c.5551-30del (n.5551-30del) | gnomAD v4 |
| 6 | g.129465115A= | CA1663192521 | LAMA2 | c.7156-30A= (n.7156-30A=) c.7420-30A= (n.7420-30A=) n.787-30A= n.495-30A= c.7153-30A= (n.7153-30A=) c.7414-30A= (n.7414-30A=) c.7426-30A= (n.7426-30A=) c.5551-30A= (n.5551-30A=) | |
| 6 | g.129465115A>G | CA570054631 | LAMA2 | c.7156-30A>G (n.7156-30A>G) c.7420-30A>G (n.7420-30A>G) n.787-30A>G n.495-30A>G c.7153-30A>G (n.7153-30A>G) c.7414-30A>G (n.7414-30A>G) c.7426-30A>G (n.7426-30A>G) c.5551-30A>G (n.5551-30A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465116C>A | CA2680307772 | LAMA2 | c.7156-29C>A (n.7156-29C>A) c.7420-29C>A (n.7420-29C>A) n.787-29C>A n.495-29C>A c.7153-29C>A (n.7153-29C>A) c.7414-29C>A (n.7414-29C>A) c.7426-29C>A (n.7426-29C>A) c.5551-29C>A (n.5551-29C>A) | gnomAD v4 |
| 6 | g.129465116C= | CA1663192525 | LAMA2 | c.7156-29C= (n.7156-29C=) c.7420-29C= (n.7420-29C=) n.787-29C= n.495-29C= c.7153-29C= (n.7153-29C=) c.7414-29C= (n.7414-29C=) c.7426-29C= (n.7426-29C=) c.5551-29C= (n.5551-29C=) | |
| 6 | g.129465116C>T | CA3994469 | LAMA2 | c.7156-29C>T (n.7156-29C>T) c.7420-29C>T (n.7420-29C>T) n.787-29C>T n.495-29C>T c.7153-29C>T (n.7153-29C>T) c.7414-29C>T (n.7414-29C>T) c.7426-29C>T (n.7426-29C>T) c.5551-29C>T (n.5551-29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465117C>A | CA2680307774 | LAMA2 | c.7156-28C>A (n.7156-28C>A) c.7420-28C>A (n.7420-28C>A) n.787-28C>A n.495-28C>A c.7153-28C>A (n.7153-28C>A) c.7414-28C>A (n.7414-28C>A) c.7426-28C>A (n.7426-28C>A) c.5551-28C>A (n.5551-28C>A) | gnomAD v4 |
| 6 | g.129465118A>G | CA2713031153 | LAMA2 | c.7156-27A>G (n.7156-27A>G) c.7420-27A>G (n.7420-27A>G) n.787-27A>G n.495-27A>G c.7153-27A>G (n.7153-27A>G) c.7414-27A>G (n.7414-27A>G) c.7426-27A>G (n.7426-27A>G) c.5551-27A>G (n.5551-27A>G) | dbSNP |
| 6 | g.129465119C>A | CA3994470 | LAMA2 | c.7156-26C>A (n.7156-26C>A) c.7420-26C>A (n.7420-26C>A) n.787-26C>A n.495-26C>A c.7153-26C>A (n.7153-26C>A) c.7414-26C>A (n.7414-26C>A) c.7426-26C>A (n.7426-26C>A) c.5551-26C>A (n.5551-26C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465119C= | CA1663192527 | LAMA2 | c.7156-26C= (n.7156-26C=) c.7420-26C= (n.7420-26C=) n.787-26C= n.495-26C= c.7153-26C= (n.7153-26C=) c.7414-26C= (n.7414-26C=) c.7426-26C= (n.7426-26C=) c.5551-26C= (n.5551-26C=) | |
| 6 | g.129465124del | CA2578756818 | LAMA2 | c.7156-21del (n.7156-21del) c.7420-21del (n.7420-21del) n.787-21del n.495-21del c.7153-21del (n.7153-21del) c.7414-21del (n.7414-21del) c.7426-21del (n.7426-21del) c.5551-21del (n.5551-21del) | gnomAD v4 |
| 6 | g.129465122G>A | CA1663192529 | LAMA2 | c.7156-23G>A (n.7156-23G>A) c.7420-23G>A (n.7420-23G>A) n.787-23G>A n.495-23G>A c.7153-23G>A (n.7153-23G>A) c.7414-23G>A (n.7414-23G>A) c.7426-23G>A (n.7426-23G>A) c.5551-23G>A (n.5551-23G>A) | dbSNP gnomAD v4 |
| 6 | g.129465122G= | CA1663192528 | LAMA2 | c.7156-23G= (n.7156-23G=) c.7420-23G= (n.7420-23G=) n.787-23G= n.495-23G= c.7153-23G= (n.7153-23G=) c.7414-23G= (n.7414-23G=) c.7426-23G= (n.7426-23G=) c.5551-23G= (n.5551-23G=) | |
| 6 | g.129465123G>A | CA570054632 | LAMA2 | c.7156-22G>A (n.7156-22G>A) c.7420-22G>A (n.7420-22G>A) n.787-22G>A n.495-22G>A c.7153-22G>A (n.7153-22G>A) c.7414-22G>A (n.7414-22G>A) c.7426-22G>A (n.7426-22G>A) c.5551-22G>A (n.5551-22G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465123G>C | CA570054633 | LAMA2 | c.7156-22G>C (n.7156-22G>C) c.7420-22G>C (n.7420-22G>C) n.787-22G>C n.495-22G>C c.7153-22G>C (n.7153-22G>C) c.7414-22G>C (n.7414-22G>C) c.7426-22G>C (n.7426-22G>C) c.5551-22G>C (n.5551-22G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465123G= | CA1663192531 | LAMA2 | c.7156-22G= (n.7156-22G=) c.7420-22G= (n.7420-22G=) n.787-22G= n.495-22G= c.7153-22G= (n.7153-22G=) c.7414-22G= (n.7414-22G=) c.7426-22G= (n.7426-22G=) c.5551-22G= (n.5551-22G=) | |
| 6 | g.129465123G>T | CA2712817284 | LAMA2 | c.7156-22G>T (n.7156-22G>T) c.7420-22G>T (n.7420-22G>T) n.787-22G>T n.495-22G>T c.7153-22G>T (n.7153-22G>T) c.7414-22G>T (n.7414-22G>T) c.7426-22G>T (n.7426-22G>T) c.5551-22G>T (n.5551-22G>T) | dbSNP |
| 6 | g.129465124G>A | CA570054634 | LAMA2 | c.7156-21G>A (n.7156-21G>A) c.7420-21G>A (n.7420-21G>A) n.787-21G>A n.495-21G>A c.7153-21G>A (n.7153-21G>A) c.7414-21G>A (n.7414-21G>A) c.7426-21G>A (n.7426-21G>A) c.5551-21G>A (n.5551-21G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465124G= | CA1663192534 | LAMA2 | c.7156-21G= (n.7156-21G=) c.7420-21G= (n.7420-21G=) n.787-21G= n.495-21G= c.7153-21G= (n.7153-21G=) c.7414-21G= (n.7414-21G=) c.7426-21G= (n.7426-21G=) c.5551-21G= (n.5551-21G=) | |
| 6 | g.129465124G>T | CA3994471 | LAMA2 | c.7156-21G>T (n.7156-21G>T) c.7420-21G>T (n.7420-21G>T) n.787-21G>T n.495-21G>T c.7153-21G>T (n.7153-21G>T) c.7414-21G>T (n.7414-21G>T) c.7426-21G>T (n.7426-21G>T) c.5551-21G>T (n.5551-21G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465125T>C | CA2680307785 | LAMA2 | c.7156-20T>C (n.7156-20T>C) c.7420-20T>C (n.7420-20T>C) n.787-20T>C n.495-20T>C c.7153-20T>C (n.7153-20T>C) c.7414-20T>C (n.7414-20T>C) c.7426-20T>C (n.7426-20T>C) c.5551-20T>C (n.5551-20T>C) | gnomAD v4 |
| 6 | g.129465127T>C | CA2680307786 | LAMA2 | c.7156-18T>C (n.7156-18T>C) c.7420-18T>C (n.7420-18T>C) n.787-18T>C n.495-18T>C c.7153-18T>C (n.7153-18T>C) c.7414-18T>C (n.7414-18T>C) c.7426-18T>C (n.7426-18T>C) c.5551-18T>C (n.5551-18T>C) | gnomAD v4 |
| 6 | g.129465127T>G | CA2578756819 | LAMA2 | c.7156-18T>G (n.7156-18T>G) c.7420-18T>G (n.7420-18T>G) n.787-18T>G n.495-18T>G c.7153-18T>G (n.7153-18T>G) c.7414-18T>G (n.7414-18T>G) c.7426-18T>G (n.7426-18T>G) c.5551-18T>G (n.5551-18T>G) | |
| 6 | g.129465128G>A | CA570054635 | LAMA2 | c.7156-17G>A (n.7156-17G>A) c.7420-17G>A (n.7420-17G>A) n.787-17G>A n.495-17G>A c.7153-17G>A (n.7153-17G>A) c.7414-17G>A (n.7414-17G>A) c.7426-17G>A (n.7426-17G>A) c.5551-17G>A (n.5551-17G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465128G= | CA1663192538 | LAMA2 | c.7156-17G= (n.7156-17G=) c.7420-17G= (n.7420-17G=) n.787-17G= n.495-17G= c.7153-17G= (n.7153-17G=) c.7414-17G= (n.7414-17G=) c.7426-17G= (n.7426-17G=) c.5551-17G= (n.5551-17G=) | |
| 6 | g.129465129T>G | CA2578756820 | LAMA2 | c.7156-16T>G (n.7156-16T>G) c.7420-16T>G (n.7420-16T>G) n.787-16T>G n.495-16T>G c.7153-16T>G (n.7153-16T>G) c.7414-16T>G (n.7414-16T>G) c.7426-16T>G (n.7426-16T>G) c.5551-16T>G (n.5551-16T>G) | |
| 6 | g.129465133C= | CA1663192539 | LAMA2 | c.7156-12C= (n.7156-12C=) c.7420-12C= (n.7420-12C=) n.787-12C= n.495-12C= c.7153-12C= (n.7153-12C=) c.7414-12C= (n.7414-12C=) c.7426-12C= (n.7426-12C=) c.5551-12C= (n.5551-12C=) | |
| 6 | g.129465133C>T | CA3994472 | LAMA2 | c.7156-12C>T (n.7156-12C>T) c.7420-12C>T (n.7420-12C>T) n.787-12C>T n.495-12C>T c.7153-12C>T (n.7153-12C>T) c.7414-12C>T (n.7414-12C>T) c.7426-12C>T (n.7426-12C>T) c.5551-12C>T (n.5551-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465134T>G | CA1663192543 | LAMA2 | c.7156-11T>G (n.7156-11T>G) c.7420-11T>G (n.7420-11T>G) n.787-11T>G n.495-11T>G c.7153-11T>G (n.7153-11T>G) c.7414-11T>G (n.7414-11T>G) c.7426-11T>G (n.7426-11T>G) c.5551-11T>G (n.5551-11T>G) | dbSNP gnomAD v4 |
| 6 | g.129465134T= | CA1663192542 | LAMA2 | c.7156-11T= (n.7156-11T=) c.7420-11T= (n.7420-11T=) n.787-11T= n.495-11T= c.7153-11T= (n.7153-11T=) c.7414-11T= (n.7414-11T=) c.7426-11T= (n.7426-11T=) c.5551-11T= (n.5551-11T=) | |
| 6 | g.129465135C= | CA1663192544 | LAMA2 | c.7156-10C= (n.7156-10C=) c.7420-10C= (n.7420-10C=) n.787-10C= n.495-10C= c.7153-10C= (n.7153-10C=) c.7414-10C= (n.7414-10C=) c.7426-10C= (n.7426-10C=) c.5551-10C= (n.5551-10C=) | |
| 6 | g.129465135C>G | CA1663192546 | LAMA2 | c.7156-10C>G (n.7156-10C>G) c.7420-10C>G (n.7420-10C>G) n.787-10C>G n.495-10C>G c.7153-10C>G (n.7153-10C>G) c.7414-10C>G (n.7414-10C>G) c.7426-10C>G (n.7426-10C>G) c.5551-10C>G (n.5551-10C>G) | dbSNP |
| 6 | g.129465135C>T | CA3994473 | LAMA2 | c.7156-10C>T (n.7156-10C>T) c.7420-10C>T (n.7420-10C>T) n.787-10C>T n.495-10C>T c.7153-10C>T (n.7153-10C>T) c.7414-10C>T (n.7414-10C>T) c.7426-10C>T (n.7426-10C>T) c.5551-10C>T (n.5551-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465136T>C | CA3994474 | LAMA2 | c.7156-9T>C (n.7156-9T>C) c.7420-9T>C (n.7420-9T>C) n.787-9T>C n.495-9T>C c.7153-9T>C (n.7153-9T>C) c.7414-9T>C (n.7414-9T>C) c.7426-9T>C (n.7426-9T>C) c.5551-9T>C (n.5551-9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465136T= | CA1663192550 | LAMA2 | c.7156-9T= (n.7156-9T=) c.7420-9T= (n.7420-9T=) n.787-9T= n.495-9T= c.7153-9T= (n.7153-9T=) c.7414-9T= (n.7414-9T=) c.7426-9T= (n.7426-9T=) c.5551-9T= (n.5551-9T=) | |
| 6 | g.129465137A= | CA1663192552 | LAMA2 | c.7156-8A= (n.7156-8A=) c.7420-8A= (n.7420-8A=) n.787-8A= n.495-8A= c.7153-8A= (n.7153-8A=) c.7414-8A= (n.7414-8A=) c.7426-8A= (n.7426-8A=) c.5551-8A= (n.5551-8A=) | |
| 6 | g.129465137A>G | CA818844352 | LAMA2 | c.7156-8A>G (n.7156-8A>G) c.7420-8A>G (n.7420-8A>G) n.787-8A>G n.495-8A>G c.7153-8A>G (n.7153-8A>G) c.7414-8A>G (n.7414-8A>G) c.7426-8A>G (n.7426-8A>G) c.5551-8A>G (n.5551-8A>G) | ClinVar dbSNP |
| 6 | g.129465138T>C | CA2713031154 | LAMA2 | c.7156-7T>C (n.7156-7T>C) c.7420-7T>C (n.7420-7T>C) n.787-7T>C n.495-7T>C c.7153-7T>C (n.7153-7T>C) c.7414-7T>C (n.7414-7T>C) c.7426-7T>C (n.7426-7T>C) c.5551-7T>C (n.5551-7T>C) | dbSNP |
| 6 | g.129465139_129465146delinsTAATAGAG | CA1663192554 | LAMA2 | c.7156-6_7157delinsTAATAGAG c.7420-6_7421delinsTAATAGAG n.787-6_788delinsTAATAGAG n.495-6_496delinsTAATAGAG c.7153-6_7154delinsTAATAGAG c.7414-6_7415delinsTAATAGAG c.7426-6_7427delinsTAATAGAG c.5551-6_5552delinsTAATAGAG | |
| 6 | g.129465140A= | CA1663192560 | LAMA2 | c.7156-5A= (n.7156-5A=) c.7420-5A= (n.7420-5A=) n.787-5A= n.495-5A= c.7153-5A= (n.7153-5A=) c.7414-5A= (n.7414-5A=) c.7426-5A= (n.7426-5A=) c.5551-5A= (n.5551-5A=) | |
| 6 | g.129465140A>C | CA1663192562 | LAMA2 | c.7156-5A>C (n.7156-5A>C) c.7420-5A>C (n.7420-5A>C) n.787-5A>C n.495-5A>C c.7153-5A>C (n.7153-5A>C) c.7414-5A>C (n.7414-5A>C) c.7426-5A>C (n.7426-5A>C) c.5551-5A>C (n.5551-5A>C) | dbSNP gnomAD v4 |
| 6 | g.129465140_129465146delinsT | CA658657619 | LAMA2 | c.7156-5_7157delinsT c.7420-5_7421delinsT n.787-5_788delinsT n.495-5_496delinsT c.7153-5_7154delinsT c.7414-5_7415delinsT c.7426-5_7427delinsT c.5551-5_5552delinsT | ClinVar dbSNP |
| 6 | g.129465141A= | CA1663192565 | LAMA2 | c.7156-4A= (n.7156-4A=) c.7420-4A= (n.7420-4A=) n.787-4A= n.495-4A= c.7153-4A= (n.7153-4A=) c.7414-4A= (n.7414-4A=) c.7426-4A= (n.7426-4A=) c.5551-4A= (n.5551-4A=) | |
| 6 | g.129465141A>C | CA3994475 | LAMA2 | c.7156-4A>C (n.7156-4A>C) c.7420-4A>C (n.7420-4A>C) n.787-4A>C n.495-4A>C c.7153-4A>C (n.7153-4A>C) c.7414-4A>C (n.7414-4A>C) c.7426-4A>C (n.7426-4A>C) c.5551-4A>C (n.5551-4A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465142T>C | CA645547601 | LAMA2 | c.7156-3T>C (n.7156-3T>C) c.7420-3T>C (n.7420-3T>C) n.787-3T>C n.495-3T>C c.7153-3T>C (n.7153-3T>C) c.7414-3T>C (n.7414-3T>C) c.7426-3T>C (n.7426-3T>C) c.5551-3T>C (n.5551-3T>C) | COSMIC |
| 6 | g.129465143A>C | CA365621243 | LAMA2 | c.7156-2A>C (n.7156-2A>C) c.7420-2A>C (n.7420-2A>C) n.787-2A>C n.495-2A>C c.7153-2A>C (n.7153-2A>C) c.7414-2A>C (n.7414-2A>C) c.7426-2A>C (n.7426-2A>C) c.5551-2A>C (n.5551-2A>C) | |
| 6 | g.129465143A>G | CA365621244 | LAMA2 | c.7156-2A>G (n.7156-2A>G) c.7420-2A>G (n.7420-2A>G) n.787-2A>G n.495-2A>G c.7153-2A>G (n.7153-2A>G) c.7414-2A>G (n.7414-2A>G) c.7426-2A>G (n.7426-2A>G) c.5551-2A>G (n.5551-2A>G) | |
| 6 | g.129465143A>T | CA365621247 | LAMA2 | c.7156-2A>T (n.7156-2A>T) c.7420-2A>T (n.7420-2A>T) n.787-2A>T n.495-2A>T c.7153-2A>T (n.7153-2A>T) c.7414-2A>T (n.7414-2A>T) c.7426-2A>T (n.7426-2A>T) c.5551-2A>T (n.5551-2A>T) | |
| 6 | g.129465146_129465149del | CA2578756821 | LAMA2 | c.7157_7160del c.7421_7424del n.788_791del n.496_499del c.7154_7157del c.7415_7418del c.7427_7430del c.5552_5555del | gnomAD v4 |
| 6 | g.129465144G>A | CA365621250 | LAMA2 | c.7156-1G>A (n.7156-1G>A) c.7420-1G>A (n.7420-1G>A) n.787-1G>A n.495-1G>A c.7153-1G>A (n.7153-1G>A) c.7414-1G>A (n.7414-1G>A) c.7426-1G>A (n.7426-1G>A) c.5551-1G>A (n.5551-1G>A) | COSMIC |
| 6 | g.129465144G>C | CA365621249 | LAMA2 | c.7156-1G>C (n.7156-1G>C) c.7420-1G>C (n.7420-1G>C) n.787-1G>C n.495-1G>C c.7153-1G>C (n.7153-1G>C) c.7414-1G>C (n.7414-1G>C) c.7426-1G>C (n.7426-1G>C) c.5551-1G>C (n.5551-1G>C) | |
| 6 | g.129465144G>T | CA365621248 | LAMA2 | c.7156-1G>T (n.7156-1G>T) c.7420-1G>T (n.7420-1G>T) n.787-1G>T n.495-1G>T c.7153-1G>T (n.7153-1G>T) c.7414-1G>T (n.7414-1G>T) c.7426-1G>T (n.7426-1G>T) c.5551-1G>T (n.5551-1G>T) | |
| 6 | g.129465145A>C | CA451926383 | LAMA2 | c.7156A>C (p.Arg2386=) c.7420A>C (p.Arg2474=) n.787A>C n.495A>C c.7153A>C (p.Arg2385=) c.7414A>C (p.Arg2472=) c.7426A>C (p.Arg2476=) c.5551A>C (p.Arg1851=) | |
| 6 | g.129465145A>G | CA365621252 | LAMA2 | c.7156A>G (p.Arg2386Gly) c.7420A>G (p.Arg2474Gly) n.787A>G n.495A>G c.7153A>G (p.Arg2385Gly) c.7414A>G (p.Arg2472Gly) c.7426A>G (p.Arg2476Gly) c.5551A>G (p.Arg1851Gly) | |
| 6 | g.129465145A>T | CA365621253 | LAMA2 | c.7156A>T (p.Arg2386Ter) c.7420A>T (p.Arg2474Ter) n.787A>T n.495A>T c.7153A>T (p.Arg2385Ter) c.7414A>T (p.Arg2472Ter) c.7426A>T (p.Arg2476Ter) c.5551A>T (p.Arg1851Ter) | |
| 6 | g.129465146G>A | CA365621255 | LAMA2 | c.7157G>A (p.Arg2386Lys) c.7421G>A (p.Arg2474Lys) n.788G>A n.496G>A c.7154G>A (p.Arg2385Lys) c.7415G>A (p.Arg2472Lys) c.7427G>A (p.Arg2476Lys) c.5552G>A (p.Arg1851Lys) | |
| 6 | g.129465146G>C | CA365621257 | LAMA2 | c.7157G>C (p.Arg2386Thr) c.7421G>C (p.Arg2474Thr) n.788G>C n.496G>C c.7154G>C (p.Arg2385Thr) c.7415G>C (p.Arg2472Thr) c.7427G>C (p.Arg2476Thr) c.5552G>C (p.Arg1851Thr) | |
| 6 | g.129465146G>T | CA365621259 | LAMA2 | c.7157G>T (p.Arg2386Ile) c.7421G>T (p.Arg2474Ile) n.788G>T n.496G>T c.7154G>T (p.Arg2385Ile) c.7415G>T (p.Arg2472Ile) c.7427G>T (p.Arg2476Ile) c.5552G>T (p.Arg1851Ile) | |
| 6 | g.129465147A>C | CA365621261 | LAMA2 | c.7158A>C (p.Arg2386Ser) c.7422A>C (p.Arg2474Ser) n.789A>C n.497A>C c.7155A>C (p.Arg2385Ser) c.7416A>C (p.Arg2472Ser) c.7428A>C (p.Arg2476Ser) c.5553A>C (p.Arg1851Ser) | |
| 6 | g.129465147A>G | CA451926386 | LAMA2 | c.7158A>G (p.Arg2386=) c.7422A>G (p.Arg2474=) n.789A>G n.497A>G c.7155A>G (p.Arg2385=) c.7416A>G (p.Arg2472=) c.7428A>G (p.Arg2476=) c.5553A>G (p.Arg1851=) | |
| 6 | g.129465147A>T | CA365621263 | LAMA2 | c.7158A>T (p.Arg2386Ser) c.7422A>T (p.Arg2474Ser) n.789A>T n.497A>T c.7155A>T (p.Arg2385Ser) c.7416A>T (p.Arg2472Ser) c.7428A>T (p.Arg2476Ser) c.5553A>T (p.Arg1851Ser) | gnomAD v4 |
| 6 | g.129465148G>A | CA365621265 | LAMA2 | c.7159G>A (p.Asp2387Asn) c.7423G>A (p.Asp2475Asn) n.790G>A n.498G>A c.7156G>A (p.Asp2386Asn) c.7417G>A (p.Asp2473Asn) c.7429G>A (p.Asp2477Asn) c.5554G>A (p.Asp1852Asn) | |
| 6 | g.129465148G>C | CA365621266 | LAMA2 | c.7159G>C (p.Asp2387His) c.7423G>C (p.Asp2475His) n.790G>C n.498G>C c.7156G>C (p.Asp2386His) c.7417G>C (p.Asp2473His) c.7429G>C (p.Asp2477His) c.5554G>C (p.Asp1852His) | |
| 6 | g.129465148G>T | CA365621267 | LAMA2 | c.7159G>T (p.Asp2387Tyr) c.7423G>T (p.Asp2475Tyr) n.790G>T n.498G>T c.7156G>T (p.Asp2386Tyr) c.7417G>T (p.Asp2473Tyr) c.7429G>T (p.Asp2477Tyr) c.5554G>T (p.Asp1852Tyr) | |
| 6 | g.129465149A>C | CA365621268 | LAMA2 | c.7160A>C (p.Asp2387Ala) c.7424A>C (p.Asp2475Ala) n.791A>C n.499A>C c.7157A>C (p.Asp2386Ala) c.7418A>C (p.Asp2473Ala) c.7430A>C (p.Asp2477Ala) c.5555A>C (p.Asp1852Ala) | |
| 6 | g.129465149A>G | CA365621269 | LAMA2 | c.7160A>G (p.Asp2387Gly) c.7424A>G (p.Asp2475Gly) n.791A>G n.499A>G c.7157A>G (p.Asp2386Gly) c.7418A>G (p.Asp2473Gly) c.7430A>G (p.Asp2477Gly) c.5555A>G (p.Asp1852Gly) | |
| 6 | g.129465149A>T | CA365621271 | LAMA2 | c.7160A>T (p.Asp2387Val) c.7424A>T (p.Asp2475Val) n.791A>T n.499A>T c.7157A>T (p.Asp2386Val) c.7418A>T (p.Asp2473Val) c.7430A>T (p.Asp2477Val) c.5555A>T (p.Asp1852Val) | |
| 6 | g.129465150T>A | CA365621273 | LAMA2 | c.7161T>A (p.Asp2387Glu) c.7425T>A (p.Asp2475Glu) n.792T>A n.500T>A c.7158T>A (p.Asp2386Glu) c.7419T>A (p.Asp2473Glu) c.7431T>A (p.Asp2477Glu) c.5556T>A (p.Asp1852Glu) | |
| 6 | g.129465150T>C | CA146892031 | LAMA2 | c.7161T>C (p.Asp2387=) c.7425T>C (p.Asp2475=) n.792T>C n.500T>C c.7158T>C (p.Asp2386=) c.7419T>C (p.Asp2473=) c.7431T>C (p.Asp2477=) c.5556T>C (p.Asp1852=) | dbSNP |
| 6 | g.129465150T>G | CA365621278 | LAMA2 | c.7161T>G (p.Asp2387Glu) c.7425T>G (p.Asp2475Glu) n.792T>G n.500T>G c.7158T>G (p.Asp2386Glu) c.7419T>G (p.Asp2473Glu) c.7431T>G (p.Asp2477Glu) c.5556T>G (p.Asp1852Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465150T= | CA1663192568 | LAMA2 | c.7161T= (p.Asp2387=) c.7425T= (p.Asp2475=) n.792T= n.500T= c.7158T= (p.Asp2386=) c.7419T= (p.Asp2473=) c.7431T= (p.Asp2477=) c.5556T= (p.Asp1852=) | |
| 6 | g.129465151T>A | CA365621279 | LAMA2 | c.7162T>A (p.Phe2388Ile) c.7426T>A (p.Phe2476Ile) n.793T>A n.501T>A c.7159T>A (p.Phe2387Ile) c.7420T>A (p.Phe2474Ile) c.7432T>A (p.Phe2478Ile) c.5557T>A (p.Phe1853Ile) | |
| 6 | g.129465151T>C | CA365621281 | LAMA2 | c.7162T>C (p.Phe2388Leu) c.7426T>C (p.Phe2476Leu) n.793T>C n.501T>C c.7159T>C (p.Phe2387Leu) c.7420T>C (p.Phe2474Leu) c.7432T>C (p.Phe2478Leu) c.5557T>C (p.Phe1853Leu) | |
| 6 | g.129465151T>G | CA365621284 | LAMA2 | c.7162T>G (p.Phe2388Val) c.7426T>G (p.Phe2476Val) n.793T>G n.501T>G c.7159T>G (p.Phe2387Val) c.7420T>G (p.Phe2474Val) c.7432T>G (p.Phe2478Val) c.5557T>G (p.Phe1853Val) | |
| 6 | g.129465152T>A | CA365621285 | LAMA2 | c.7163T>A (p.Phe2388Tyr) c.7427T>A (p.Phe2476Tyr) n.794T>A n.502T>A c.7160T>A (p.Phe2387Tyr) c.7421T>A (p.Phe2474Tyr) c.7433T>A (p.Phe2478Tyr) c.5558T>A (p.Phe1853Tyr) | |
| 6 | g.129465152T>C | CA365621288 | LAMA2 | c.7163T>C (p.Phe2388Ser) c.7427T>C (p.Phe2476Ser) n.794T>C n.502T>C c.7160T>C (p.Phe2387Ser) c.7421T>C (p.Phe2474Ser) c.7433T>C (p.Phe2478Ser) c.5558T>C (p.Phe1853Ser) | |
| 6 | g.129465152T>G | CA365621289 | LAMA2 | c.7163T>G (p.Phe2388Cys) c.7427T>G (p.Phe2476Cys) n.794T>G n.502T>G c.7160T>G (p.Phe2387Cys) c.7421T>G (p.Phe2474Cys) c.7433T>G (p.Phe2478Cys) c.5558T>G (p.Phe1853Cys) | |
| 6 | g.129465153C>A | CA365621290 | LAMA2 | c.7164C>A (p.Phe2388Leu) c.7428C>A (p.Phe2476Leu) n.795C>A n.503C>A c.7161C>A (p.Phe2387Leu) c.7422C>A (p.Phe2474Leu) c.7434C>A (p.Phe2478Leu) c.5559C>A (p.Phe1853Leu) | gnomAD v4 |
| 6 | g.129465153C= | CA1663192573 | LAMA2 | c.7164C= (p.Phe2388=) c.7428C= (p.Phe2476=) n.795C= n.503C= c.7161C= (p.Phe2387=) c.7422C= (p.Phe2474=) c.7434C= (p.Phe2478=) c.5559C= (p.Phe1853=) | |
| 6 | g.129465153C>G | CA365621291 | LAMA2 | c.7164C>G (p.Phe2388Leu) c.7428C>G (p.Phe2476Leu) n.795C>G n.503C>G c.7161C>G (p.Phe2387Leu) c.7422C>G (p.Phe2474Leu) c.7434C>G (p.Phe2478Leu) c.5559C>G (p.Phe1853Leu) | |
| 6 | g.129465153C>T | CA451926391 | LAMA2 | c.7164C>T (p.Phe2388=) c.7428C>T (p.Phe2476=) n.795C>T n.503C>T c.7161C>T (p.Phe2387=) c.7422C>T (p.Phe2474=) c.7434C>T (p.Phe2478=) c.5559C>T (p.Phe1853=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465154A>C | CA365621292 | LAMA2 | c.7165A>C (p.Met2389Leu) c.7429A>C (p.Met2477Leu) n.796A>C n.504A>C c.7162A>C (p.Met2388Leu) c.7423A>C (p.Met2475Leu) c.7435A>C (p.Met2479Leu) c.5560A>C (p.Met1854Leu) | |
| 6 | g.129465154A>G | CA365621295 | LAMA2 | c.7165A>G (p.Met2389Val) c.7429A>G (p.Met2477Val) n.796A>G n.504A>G c.7162A>G (p.Met2388Val) c.7423A>G (p.Met2475Val) c.7435A>G (p.Met2479Val) c.5560A>G (p.Met1854Val) | gnomAD v4 |
| 6 | g.129465154A>T | CA365621298 | LAMA2 | c.7165A>T (p.Met2389Leu) c.7429A>T (p.Met2477Leu) n.796A>T n.504A>T c.7162A>T (p.Met2388Leu) c.7423A>T (p.Met2475Leu) c.7435A>T (p.Met2479Leu) c.5560A>T (p.Met1854Leu) | |
| 6 | g.129465155T>A | CA365621302 | LAMA2 | c.7166T>A (p.Met2389Lys) c.7430T>A (p.Met2477Lys) n.797T>A n.505T>A c.7163T>A (p.Met2388Lys) c.7424T>A (p.Met2475Lys) c.7436T>A (p.Met2479Lys) c.5561T>A (p.Met1854Lys) | |
| 6 | g.129465155T>C | CA365621303 | LAMA2 | c.7166T>C (p.Met2389Thr) c.7430T>C (p.Met2477Thr) n.797T>C n.505T>C c.7163T>C (p.Met2388Thr) c.7424T>C (p.Met2475Thr) c.7436T>C (p.Met2479Thr) c.5561T>C (p.Met1854Thr) | |
| 6 | g.129465155T>G | CA365621306 | LAMA2 | c.7166T>G (p.Met2389Arg) c.7430T>G (p.Met2477Arg) n.797T>G n.505T>G c.7163T>G (p.Met2388Arg) c.7424T>G (p.Met2475Arg) c.7436T>G (p.Met2479Arg) c.5561T>G (p.Met1854Arg) | gnomAD v4 |
| 6 | g.129465156G>A | CA365621326 | LAMA2 | c.7167G>A (p.Met2389Ile) c.7431G>A (p.Met2477Ile) n.798G>A n.506G>A c.7164G>A (p.Met2388Ile) c.7425G>A (p.Met2475Ile) c.7437G>A (p.Met2479Ile) c.5562G>A (p.Met1854Ile) | gnomAD v4 |
| 6 | g.129465156G>C | CA365621323 | LAMA2 | c.7167G>C (p.Met2389Ile) c.7431G>C (p.Met2477Ile) n.798G>C n.506G>C c.7164G>C (p.Met2388Ile) c.7425G>C (p.Met2475Ile) c.7437G>C (p.Met2479Ile) c.5562G>C (p.Met1854Ile) | |
| 6 | g.129465156G>T | CA365621309 | LAMA2 | c.7167G>T (p.Met2389Ile) c.7431G>T (p.Met2477Ile) n.798G>T n.506G>T c.7164G>T (p.Met2388Ile) c.7425G>T (p.Met2475Ile) c.7437G>T (p.Met2479Ile) c.5562G>T (p.Met1854Ile) | |
| 6 | g.129465157A>C | CA365621329 | LAMA2 | c.7168A>C (p.Ser2390Arg) c.7432A>C (p.Ser2478Arg) n.799A>C n.507A>C c.7165A>C (p.Ser2389Arg) c.7426A>C (p.Ser2476Arg) c.7438A>C (p.Ser2480Arg) c.5563A>C (p.Ser1855Arg) | |
| 6 | g.129465157A>G | CA365621330 | LAMA2 | c.7168A>G (p.Ser2390Gly) c.7432A>G (p.Ser2478Gly) n.799A>G n.507A>G c.7165A>G (p.Ser2389Gly) c.7426A>G (p.Ser2476Gly) c.7438A>G (p.Ser2480Gly) c.5563A>G (p.Ser1855Gly) | |
| 6 | g.129465157A>T | CA365621331 | LAMA2 | c.7168A>T (p.Ser2390Cys) c.7432A>T (p.Ser2478Cys) n.799A>T n.507A>T c.7165A>T (p.Ser2389Cys) c.7426A>T (p.Ser2476Cys) c.7438A>T (p.Ser2480Cys) c.5563A>T (p.Ser1855Cys) | |
| 6 | g.129465158G>A | CA365621332 | LAMA2 | c.7169G>A (p.Ser2390Asn) c.7433G>A (p.Ser2478Asn) n.800G>A n.508G>A c.7166G>A (p.Ser2389Asn) c.7427G>A (p.Ser2476Asn) c.7439G>A (p.Ser2480Asn) c.5564G>A (p.Ser1855Asn) | |
| 6 | g.129465158G>C | CA365621333 | LAMA2 | c.7169G>C (p.Ser2390Thr) c.7433G>C (p.Ser2478Thr) n.800G>C n.508G>C c.7166G>C (p.Ser2389Thr) c.7427G>C (p.Ser2476Thr) c.7439G>C (p.Ser2480Thr) c.5564G>C (p.Ser1855Thr) | gnomAD v4 |
| 6 | g.129465158G>T | CA365621338 | LAMA2 | c.7169G>T (p.Ser2390Ile) c.7433G>T (p.Ser2478Ile) n.800G>T n.508G>T c.7166G>T (p.Ser2389Ile) c.7427G>T (p.Ser2476Ile) c.7439G>T (p.Ser2480Ile) c.5564G>T (p.Ser1855Ile) | |
| 6 | g.129465159T>A | CA365621341 | LAMA2 | c.7170T>A (p.Ser2390Arg) c.7434T>A (p.Ser2478Arg) n.801T>A n.509T>A c.7167T>A (p.Ser2389Arg) c.7428T>A (p.Ser2476Arg) c.7440T>A (p.Ser2480Arg) c.5565T>A (p.Ser1855Arg) | |
| 6 | g.129465159T>C | CA451926393 | LAMA2 | c.7170T>C (p.Ser2390=) c.7434T>C (p.Ser2478=) n.801T>C n.509T>C c.7167T>C (p.Ser2389=) c.7428T>C (p.Ser2476=) c.7440T>C (p.Ser2480=) c.5565T>C (p.Ser1855=) | ClinVar dbSNP |
| 6 | g.129465159T>G | CA365621349 | LAMA2 | c.7170T>G (p.Ser2390Arg) c.7434T>G (p.Ser2478Arg) n.801T>G n.509T>G c.7167T>G (p.Ser2389Arg) c.7428T>G (p.Ser2476Arg) c.7440T>G (p.Ser2480Arg) c.5565T>G (p.Ser1855Arg) | |
| 6 | g.129465160G>A | CA365621352 | LAMA2 | c.7171G>A (p.Val2391Met) c.7435G>A (p.Val2479Met) n.802G>A n.510G>A c.7168G>A (p.Val2390Met) c.7429G>A (p.Val2477Met) c.7441G>A (p.Val2481Met) c.5566G>A (p.Val1856Met) | dbSNP |
| 6 | g.129465160G>C | CA3994476 | LAMA2 | c.7171G>C (p.Val2391Leu) c.7435G>C (p.Val2479Leu) n.802G>C n.510G>C c.7168G>C (p.Val2390Leu) c.7429G>C (p.Val2477Leu) c.7441G>C (p.Val2481Leu) c.5566G>C (p.Val1856Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465160G= | CA1663192577 | LAMA2 | c.7171G= (p.Val2391=) c.7435G= (p.Val2479=) n.802G= n.510G= c.7168G= (p.Val2390=) c.7429G= (p.Val2477=) c.7441G= (p.Val2481=) c.5566G= (p.Val1856=) | |
| 6 | g.129465160G>T | CA365621356 | LAMA2 | c.7171G>T (p.Val2391Leu) c.7435G>T (p.Val2479Leu) n.802G>T n.510G>T c.7168G>T (p.Val2390Leu) c.7429G>T (p.Val2477Leu) c.7441G>T (p.Val2481Leu) c.5566G>T (p.Val1856Leu) | dbSNP |
| 6 | g.129465161T>A | CA365621358 | LAMA2 | c.7172T>A (p.Val2391Glu) c.7436T>A (p.Val2479Glu) n.803T>A n.511T>A c.7169T>A (p.Val2390Glu) c.7430T>A (p.Val2477Glu) c.7442T>A (p.Val2481Glu) c.5567T>A (p.Val1856Glu) | |
| 6 | g.129465161T>C | CA365621361 | LAMA2 | c.7172T>C (p.Val2391Ala) c.7436T>C (p.Val2479Ala) n.803T>C n.511T>C c.7169T>C (p.Val2390Ala) c.7430T>C (p.Val2477Ala) c.7442T>C (p.Val2481Ala) c.5567T>C (p.Val1856Ala) | |
| 6 | g.129465161T>G | CA365621366 | LAMA2 | c.7172T>G (p.Val2391Gly) c.7436T>G (p.Val2479Gly) n.803T>G n.511T>G c.7169T>G (p.Val2390Gly) c.7430T>G (p.Val2477Gly) c.7442T>G (p.Val2481Gly) c.5567T>G (p.Val1856Gly) | |
| 6 | g.129465162G>A | CA451926394 | LAMA2 | c.7173G>A (p.Val2391=) c.7437G>A (p.Val2479=) n.804G>A n.512G>A c.7170G>A (p.Val2390=) c.7431G>A (p.Val2477=) c.7443G>A (p.Val2481=) c.5568G>A (p.Val1856=) | |
| 6 | g.129465162G>C | CA451926395 | LAMA2 | c.7173G>C (p.Val2391=) c.7437G>C (p.Val2479=) n.804G>C n.512G>C c.7170G>C (p.Val2390=) c.7431G>C (p.Val2477=) c.7443G>C (p.Val2481=) c.5568G>C (p.Val1856=) | |
| 6 | g.129465162G>T | CA451926396 | LAMA2 | c.7173G>T (p.Val2391=) c.7437G>T (p.Val2479=) n.804G>T n.512G>T c.7170G>T (p.Val2390=) c.7431G>T (p.Val2477=) c.7443G>T (p.Val2481=) c.5568G>T (p.Val1856=) | |
| 6 | g.129465163G>A | CA365621376 | LAMA2 | c.7174G>A (p.Glu2392Lys) c.7438G>A (p.Glu2480Lys) n.805G>A n.513G>A c.7171G>A (p.Glu2391Lys) c.7432G>A (p.Glu2478Lys) c.7444G>A (p.Glu2482Lys) c.5569G>A (p.Glu1857Lys) | |
| 6 | g.129465163G>C | CA365621379 | LAMA2 | c.7174G>C (p.Glu2392Gln) c.7438G>C (p.Glu2480Gln) n.805G>C n.513G>C c.7171G>C (p.Glu2391Gln) c.7432G>C (p.Glu2478Gln) c.7444G>C (p.Glu2482Gln) c.5569G>C (p.Glu1857Gln) | |
| 6 | g.129465163G>T | CA365621369 | LAMA2 | c.7174G>T (p.Glu2392Ter) c.7438G>T (p.Glu2480Ter) n.805G>T n.513G>T c.7171G>T (p.Glu2391Ter) c.7432G>T (p.Glu2478Ter) c.7444G>T (p.Glu2482Ter) c.5569G>T (p.Glu1857Ter) | COSMIC |
| 6 | g.129465164A>C | CA365621381 | LAMA2 | c.7175A>C (p.Glu2392Ala) c.7439A>C (p.Glu2480Ala) n.806A>C n.514A>C c.7172A>C (p.Glu2391Ala) c.7433A>C (p.Glu2478Ala) c.7445A>C (p.Glu2482Ala) c.5570A>C (p.Glu1857Ala) | |
| 6 | g.129465164A>G | CA365621382 | LAMA2 | c.7175A>G (p.Glu2392Gly) c.7439A>G (p.Glu2480Gly) n.806A>G n.514A>G c.7172A>G (p.Glu2391Gly) c.7433A>G (p.Glu2478Gly) c.7445A>G (p.Glu2482Gly) c.5570A>G (p.Glu1857Gly) | ClinVar gnomAD v4 |
| 6 | g.129465164A>T | CA365621384 | LAMA2 | c.7175A>T (p.Glu2392Val) c.7439A>T (p.Glu2480Val) n.806A>T n.514A>T c.7172A>T (p.Glu2391Val) c.7433A>T (p.Glu2478Val) c.7445A>T (p.Glu2482Val) c.5570A>T (p.Glu1857Val) | |
| 6 | g.129465165G>A | CA451926400 | LAMA2 | c.7176G>A (p.Glu2392=) c.7440G>A (p.Glu2480=) n.807G>A n.515G>A c.7173G>A (p.Glu2391=) c.7434G>A (p.Glu2478=) c.7446G>A (p.Glu2482=) c.5571G>A (p.Glu1857=) | ClinVar dbSNP |
| 6 | g.129465165G>C | CA3994477 | LAMA2 | c.7176G>C (p.Glu2392Asp) c.7440G>C (p.Glu2480Asp) n.807G>C n.515G>C c.7173G>C (p.Glu2391Asp) c.7434G>C (p.Glu2478Asp) c.7446G>C (p.Glu2482Asp) c.5571G>C (p.Glu1857Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465165G= | CA1663192582 | LAMA2 | c.7176G= (p.Glu2392=) c.7440G= (p.Glu2480=) n.807G= n.515G= c.7173G= (p.Glu2391=) c.7434G= (p.Glu2478=) c.7446G= (p.Glu2482=) c.5571G= (p.Glu1857=) | |
| 6 | g.129465165G>T | CA365621395 | LAMA2 | c.7176G>T (p.Glu2392Asp) c.7440G>T (p.Glu2480Asp) n.807G>T n.515G>T c.7173G>T (p.Glu2391Asp) c.7434G>T (p.Glu2478Asp) c.7446G>T (p.Glu2482Asp) c.5571G>T (p.Glu1857Asp) | |
| 6 | g.129465166C>A | CA365621408 | LAMA2 | c.7177C>A (p.Leu2393Ile) c.7441C>A (p.Leu2481Ile) n.808C>A n.516C>A c.7174C>A (p.Leu2392Ile) c.7435C>A (p.Leu2479Ile) c.7447C>A (p.Leu2483Ile) c.5572C>A (p.Leu1858Ile) | gnomAD v4 |
| 6 | g.129465166C= | CA1663192589 | LAMA2 | c.7177C= (p.Leu2393=) c.7441C= (p.Leu2481=) n.808C= n.516C= c.7174C= (p.Leu2392=) c.7435C= (p.Leu2479=) c.7447C= (p.Leu2483=) c.5572C= (p.Leu1858=) | |
| 6 | g.129465166C>G | CA365621403 | LAMA2 | c.7177C>G (p.Leu2393Val) c.7441C>G (p.Leu2481Val) n.808C>G n.516C>G c.7174C>G (p.Leu2392Val) c.7435C>G (p.Leu2479Val) c.7447C>G (p.Leu2483Val) c.5572C>G (p.Leu1858Val) | |
| 6 | g.129465166C>T | CA365621401 | LAMA2 | c.7177C>T (p.Leu2393Phe) c.7441C>T (p.Leu2481Phe) n.808C>T n.516C>T c.7174C>T (p.Leu2392Phe) c.7435C>T (p.Leu2479Phe) c.7447C>T (p.Leu2483Phe) c.5572C>T (p.Leu1858Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465167T>A | CA365621412 | LAMA2 | c.7178T>A (p.Leu2393His) c.7442T>A (p.Leu2481His) n.809T>A n.517T>A c.7175T>A (p.Leu2392His) c.7436T>A (p.Leu2479His) c.7448T>A (p.Leu2483His) c.5573T>A (p.Leu1858His) | |
| 6 | g.129465167T>C | CA365621420 | LAMA2 | c.7178T>C (p.Leu2393Pro) c.7442T>C (p.Leu2481Pro) n.809T>C n.517T>C c.7175T>C (p.Leu2392Pro) c.7436T>C (p.Leu2479Pro) c.7448T>C (p.Leu2483Pro) c.5573T>C (p.Leu1858Pro) | gnomAD v4 |
| 6 | g.129465167T>G | CA365621422 | LAMA2 | c.7178T>G (p.Leu2393Arg) c.7442T>G (p.Leu2481Arg) n.809T>G n.517T>G c.7175T>G (p.Leu2392Arg) c.7436T>G (p.Leu2479Arg) c.7448T>G (p.Leu2483Arg) c.5573T>G (p.Leu1858Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465167T= | CA1663192590 | LAMA2 | c.7178T= (p.Leu2393=) c.7442T= (p.Leu2481=) n.809T= n.517T= c.7175T= (p.Leu2392=) c.7436T= (p.Leu2479=) c.7448T= (p.Leu2483=) c.5573T= (p.Leu1858=) | |
| 6 | g.129465168C>A | CA451926406 | LAMA2 | c.7179C>A (p.Leu2393=) c.7443C>A (p.Leu2481=) n.810C>A n.518C>A c.7176C>A (p.Leu2392=) c.7437C>A (p.Leu2479=) c.7449C>A (p.Leu2483=) c.5574C>A (p.Leu1858=) | |
| 6 | g.129465168C>G | CA451926405 | LAMA2 | c.7179C>G (p.Leu2393=) c.7443C>G (p.Leu2481=) n.810C>G n.518C>G c.7176C>G (p.Leu2392=) c.7437C>G (p.Leu2479=) c.7449C>G (p.Leu2483=) c.5574C>G (p.Leu1858=) | ClinVar dbSNP |
| 6 | g.129465168C>T | CA451926404 | LAMA2 | c.7179C>T (p.Leu2393=) c.7443C>T (p.Leu2481=) n.810C>T n.518C>T c.7176C>T (p.Leu2392=) c.7437C>T (p.Leu2479=) c.7449C>T (p.Leu2483=) c.5574C>T (p.Leu1858=) | |
| 6 | g.129465169A= | CA1663192594 | LAMA2 | c.7180A= (p.Thr2394=) c.7444A= (p.Thr2482=) n.811A= n.519A= c.7177A= (p.Thr2393=) c.7438A= (p.Thr2480=) c.7450A= (p.Thr2484=) c.5575A= (p.Thr1859=) | |
| 6 | g.129465169A>C | CA365621429 | LAMA2 | c.7180A>C (p.Thr2394Pro) c.7444A>C (p.Thr2482Pro) n.811A>C n.519A>C c.7177A>C (p.Thr2393Pro) c.7438A>C (p.Thr2480Pro) c.7450A>C (p.Thr2484Pro) c.5575A>C (p.Thr1859Pro) | |
| 6 | g.129465169A>G | CA3994478 | LAMA2 | c.7180A>G (p.Thr2394Ala) c.7444A>G (p.Thr2482Ala) n.811A>G n.519A>G c.7177A>G (p.Thr2393Ala) c.7438A>G (p.Thr2480Ala) c.7450A>G (p.Thr2484Ala) c.5575A>G (p.Thr1859Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465169A>T | CA365621430 | LAMA2 | c.7180A>T (p.Thr2394Ser) c.7444A>T (p.Thr2482Ser) n.811A>T n.519A>T c.7177A>T (p.Thr2393Ser) c.7438A>T (p.Thr2480Ser) c.7450A>T (p.Thr2484Ser) c.5575A>T (p.Thr1859Ser) | |
| 6 | g.129465169_129465170delinsAC | CA1663192595 | LAMA2 | c.7180_7181delinsAC (p.Thr2394=) c.7444_7445delinsAC (p.Thr2482=) n.811_812delinsAC n.519_520delinsAC c.7177_7178delinsAC (p.Thr2393=) c.7438_7439delinsAC (p.Thr2480=) c.7450_7451delinsAC (p.Thr2484=) c.5575_5576delinsAC (p.Thr1859=) | |
| 6 | g.129465170del | CA915943633 | LAMA2 | c.7181del (p.Thr2394MetfsTer5) c.7445del (p.Thr2482MetfsTer5) n.812del n.520del c.7178del (p.Thr2393MetfsTer5) c.7439del (p.Thr2480MetfsTer5) c.7451del (p.Thr2484MetfsTer5) c.5576del (p.Thr1859MetfsTer5) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129465170C>A | CA365621431 | LAMA2 | c.7181C>A (p.Thr2394Asn) c.7445C>A (p.Thr2482Asn) n.812C>A n.520C>A c.7178C>A (p.Thr2393Asn) c.7439C>A (p.Thr2480Asn) c.7451C>A (p.Thr2484Asn) c.5576C>A (p.Thr1859Asn) | COSMIC |
| 6 | g.129465170C>G | CA365621436 | LAMA2 | c.7181C>G (p.Thr2394Ser) c.7445C>G (p.Thr2482Ser) n.812C>G n.520C>G c.7178C>G (p.Thr2393Ser) c.7439C>G (p.Thr2480Ser) c.7451C>G (p.Thr2484Ser) c.5576C>G (p.Thr1859Ser) | |
| 6 | g.129465170C>T | CA365621433 | LAMA2 | c.7181C>T (p.Thr2394Ile) c.7445C>T (p.Thr2482Ile) n.812C>T n.520C>T c.7178C>T (p.Thr2393Ile) c.7439C>T (p.Thr2480Ile) c.7451C>T (p.Thr2484Ile) c.5576C>T (p.Thr1859Ile) | gnomAD v4 |
| 6 | g.129465171T>A | CA451926408 | LAMA2 | c.7182T>A (p.Thr2394=) c.7446T>A (p.Thr2482=) n.813T>A n.521T>A c.7179T>A (p.Thr2393=) c.7440T>A (p.Thr2480=) c.7452T>A (p.Thr2484=) c.5577T>A (p.Thr1859=) | |
| 6 | g.129465171T>C | CA451926409 | LAMA2 | c.7182T>C (p.Thr2394=) c.7446T>C (p.Thr2482=) n.813T>C n.521T>C c.7179T>C (p.Thr2393=) c.7440T>C (p.Thr2480=) c.7452T>C (p.Thr2484=) c.5577T>C (p.Thr1859=) | |
| 6 | g.129465171T>G | CA451926410 | LAMA2 | c.7182T>G (p.Thr2394=) c.7446T>G (p.Thr2482=) n.813T>G n.521T>G c.7179T>G (p.Thr2393=) c.7440T>G (p.Thr2480=) c.7452T>G (p.Thr2484=) c.5577T>G (p.Thr1859=) | dbSNP |
| 6 | g.129465171T= | CA1663192600 | LAMA2 | c.7182T= (p.Thr2394=) c.7446T= (p.Thr2482=) n.813T= n.521T= c.7179T= (p.Thr2393=) c.7440T= (p.Thr2480=) c.7452T= (p.Thr2484=) c.5577T= (p.Thr1859=) | |
| 6 | g.129465172G>A | CA365621438 | LAMA2 | c.7183G>A (p.Asp2395Asn) c.7447G>A (p.Asp2483Asn) n.814G>A n.522G>A c.7180G>A (p.Asp2394Asn) c.7441G>A (p.Asp2481Asn) c.7453G>A (p.Asp2485Asn) c.5578G>A (p.Asp1860Asn) | |
| 6 | g.129465172G>C | CA365621442 | LAMA2 | c.7183G>C (p.Asp2395His) c.7447G>C (p.Asp2483His) n.814G>C n.522G>C c.7180G>C (p.Asp2394His) c.7441G>C (p.Asp2481His) c.7453G>C (p.Asp2485His) c.5578G>C (p.Asp1860His) | |
| 6 | g.129465172G>T | CA365621445 | LAMA2 | c.7183G>T (p.Asp2395Tyr) c.7447G>T (p.Asp2483Tyr) n.814G>T n.522G>T c.7180G>T (p.Asp2394Tyr) c.7441G>T (p.Asp2481Tyr) c.7453G>T (p.Asp2485Tyr) c.5578G>T (p.Asp1860Tyr) | |
| 6 | g.129465173A>C | CA365621454 | LAMA2 | c.7184A>C (p.Asp2395Ala) c.7448A>C (p.Asp2483Ala) n.815A>C n.523A>C c.7181A>C (p.Asp2394Ala) c.7442A>C (p.Asp2481Ala) c.7454A>C (p.Asp2485Ala) c.5579A>C (p.Asp1860Ala) | |
| 6 | g.129465173A>G | CA365621457 | LAMA2 | c.7184A>G (p.Asp2395Gly) c.7448A>G (p.Asp2483Gly) n.815A>G n.523A>G c.7181A>G (p.Asp2394Gly) c.7442A>G (p.Asp2481Gly) c.7454A>G (p.Asp2485Gly) c.5579A>G (p.Asp1860Gly) | |
| 6 | g.129465173A>T | CA365621464 | LAMA2 | c.7184A>T (p.Asp2395Val) c.7448A>T (p.Asp2483Val) n.815A>T n.523A>T c.7181A>T (p.Asp2394Val) c.7442A>T (p.Asp2481Val) c.7454A>T (p.Asp2485Val) c.5579A>T (p.Asp1860Val) | |
| 6 | g.129465174T>A | CA365621467 | LAMA2 | c.7185T>A (p.Asp2395Glu) c.7449T>A (p.Asp2483Glu) n.816T>A n.524T>A c.7182T>A (p.Asp2394Glu) c.7443T>A (p.Asp2481Glu) c.7455T>A (p.Asp2485Glu) c.5580T>A (p.Asp1860Glu) | |
| 6 | g.129465174T>C | CA451926413 | LAMA2 | c.7185T>C (p.Asp2395=) c.7449T>C (p.Asp2483=) n.816T>C n.524T>C c.7182T>C (p.Asp2394=) c.7443T>C (p.Asp2481=) c.7455T>C (p.Asp2485=) c.5580T>C (p.Asp1860=) | |
| 6 | g.129465174T>G | CA365621471 | LAMA2 | c.7185T>G (p.Asp2395Glu) c.7449T>G (p.Asp2483Glu) n.816T>G n.524T>G c.7182T>G (p.Asp2394Glu) c.7443T>G (p.Asp2481Glu) c.7455T>G (p.Asp2485Glu) c.5580T>G (p.Asp1860Glu) | |
| 6 | g.129465175G>A | CA365621477 | LAMA2 | c.7186G>A (p.Gly2396Arg) c.7450G>A (p.Gly2484Arg) n.817G>A n.525G>A c.7183G>A (p.Gly2395Arg) c.7444G>A (p.Gly2482Arg) c.7456G>A (p.Gly2486Arg) c.5581G>A (p.Gly1861Arg) | ClinVar dbSNP |
| 6 | g.129465175G>C | CA365621487 | LAMA2 | c.7186G>C (p.Gly2396Arg) c.7450G>C (p.Gly2484Arg) n.817G>C n.525G>C c.7183G>C (p.Gly2395Arg) c.7444G>C (p.Gly2482Arg) c.7456G>C (p.Gly2486Arg) c.5581G>C (p.Gly1861Arg) | |
| 6 | g.129465175G= | CA1663192602 | LAMA2 | c.7186G= (p.Gly2396=) c.7450G= (p.Gly2484=) n.817G= n.525G= c.7183G= (p.Gly2395=) c.7444G= (p.Gly2482=) c.7456G= (p.Gly2486=) c.5581G= (p.Gly1861=) | |
| 6 | g.129465175G>T | CA365621493 | LAMA2 | c.7186G>T (p.Gly2396Trp) c.7450G>T (p.Gly2484Trp) n.817G>T n.525G>T c.7183G>T (p.Gly2395Trp) c.7444G>T (p.Gly2482Trp) c.7456G>T (p.Gly2486Trp) c.5581G>T (p.Gly1861Trp) | |
| 6 | g.129465177del | CA2695206953 | LAMA2 | c.7188del (p.His2397ThrfsTer2) c.7452del (p.His2485ThrfsTer2) n.819del n.527del c.7185del (p.His2396ThrfsTer2) c.7446del (p.His2483ThrfsTer2) c.7458del (p.His2487ThrfsTer2) c.5583del (p.His1862ThrfsTer2) | |
| 6 | g.129465176G>A | CA3994479 | LAMA2 | c.7187G>A (p.Gly2396Glu) c.7451G>A (p.Gly2484Glu) n.818G>A n.526G>A c.7184G>A (p.Gly2395Glu) c.7445G>A (p.Gly2482Glu) c.7457G>A (p.Gly2486Glu) c.5582G>A (p.Gly1861Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465176G>C | CA365621503 | LAMA2 | c.7187G>C (p.Gly2396Ala) c.7451G>C (p.Gly2484Ala) n.818G>C n.526G>C c.7184G>C (p.Gly2395Ala) c.7445G>C (p.Gly2482Ala) c.7457G>C (p.Gly2486Ala) c.5582G>C (p.Gly1861Ala) | |
| 6 | g.129465176G= | CA1663192604 | LAMA2 | c.7187G= (p.Gly2396=) c.7451G= (p.Gly2484=) n.818G= n.526G= c.7184G= (p.Gly2395=) c.7445G= (p.Gly2482=) c.7457G= (p.Gly2486=) c.5582G= (p.Gly1861=) | |
| 6 | g.129465176G>T | CA365621500 | LAMA2 | c.7187G>T (p.Gly2396Val) c.7451G>T (p.Gly2484Val) n.818G>T n.526G>T c.7184G>T (p.Gly2395Val) c.7445G>T (p.Gly2482Val) c.7457G>T (p.Gly2486Val) c.5582G>T (p.Gly1861Val) | dbSNP gnomAD v2 |
| 6 | g.129465177G>A | CA3994480 | LAMA2 | c.7188G>A (p.Gly2396=) c.7452G>A (p.Gly2484=) n.819G>A n.527G>A c.7185G>A (p.Gly2395=) c.7446G>A (p.Gly2482=) c.7458G>A (p.Gly2486=) c.5583G>A (p.Gly1861=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465177G>C | CA451926415 | LAMA2 | c.7188G>C (p.Gly2396=) c.7452G>C (p.Gly2484=) n.819G>C n.527G>C c.7185G>C (p.Gly2395=) c.7446G>C (p.Gly2482=) c.7458G>C (p.Gly2486=) c.5583G>C (p.Gly1861=) | |
| 6 | g.129465177G= | CA1663192606 | LAMA2 | c.7188G= (p.Gly2396=) c.7452G= (p.Gly2484=) n.819G= n.527G= c.7185G= (p.Gly2395=) c.7446G= (p.Gly2482=) c.7458G= (p.Gly2486=) c.5583G= (p.Gly1861=) | |
| 6 | g.129465177G>T | CA451926416 | LAMA2 | c.7188G>T (p.Gly2396=) c.7452G>T (p.Gly2484=) n.819G>T n.527G>T c.7185G>T (p.Gly2395=) c.7446G>T (p.Gly2482=) c.7458G>T (p.Gly2486=) c.5583G>T (p.Gly1861=) | |
| 6 | g.129465178C>A | CA365621525 | LAMA2 | c.7189C>A (p.His2397Asn) c.7453C>A (p.His2485Asn) n.820C>A n.528C>A c.7186C>A (p.His2396Asn) c.7447C>A (p.His2483Asn) c.7459C>A (p.His2487Asn) c.5584C>A (p.His1862Asn) | |
| 6 | g.129465178C>G | CA365621511 | LAMA2 | c.7189C>G (p.His2397Asp) c.7453C>G (p.His2485Asp) n.820C>G n.528C>G c.7186C>G (p.His2396Asp) c.7447C>G (p.His2483Asp) c.7459C>G (p.His2487Asp) c.5584C>G (p.His1862Asp) | |
| 6 | g.129465178C>T | CA365621521 | LAMA2 | c.7189C>T (p.His2397Tyr) c.7453C>T (p.His2485Tyr) n.820C>T n.528C>T c.7186C>T (p.His2396Tyr) c.7447C>T (p.His2483Tyr) c.7459C>T (p.His2487Tyr) c.5584C>T (p.His1862Tyr) | |
| 6 | g.129465179A= | CA1663192608 | LAMA2 | c.7190A= (p.His2397=) c.7454A= (p.His2485=) n.821A= n.529A= c.7187A= (p.His2396=) c.7448A= (p.His2483=) c.7460A= (p.His2487=) c.5585A= (p.His1862=) | |
| 6 | g.129465179A>C | CA146892057 | LAMA2 | c.7190A>C (p.His2397Pro) c.7454A>C (p.His2485Pro) n.821A>C n.529A>C c.7187A>C (p.His2396Pro) c.7448A>C (p.His2483Pro) c.7460A>C (p.His2487Pro) c.5585A>C (p.His1862Pro) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129465179A>G | CA3994481 | LAMA2 | c.7190A>G (p.His2397Arg) c.7454A>G (p.His2485Arg) n.821A>G n.529A>G c.7187A>G (p.His2396Arg) c.7448A>G (p.His2483Arg) c.7460A>G (p.His2487Arg) c.5585A>G (p.His1862Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465179A>T | CA365621533 | LAMA2 | c.7190A>T (p.His2397Leu) c.7454A>T (p.His2485Leu) n.821A>T n.529A>T c.7187A>T (p.His2396Leu) c.7448A>T (p.His2483Leu) c.7460A>T (p.His2487Leu) c.5585A>T (p.His1862Leu) | |
| 6 | g.129465180C>A | CA365621538 | LAMA2 | c.7191C>A (p.His2397Gln) c.7455C>A (p.His2485Gln) n.822C>A n.530C>A c.7188C>A (p.His2396Gln) c.7449C>A (p.His2483Gln) c.7461C>A (p.His2487Gln) c.5586C>A (p.His1862Gln) | |
| 6 | g.129465180C>G | CA365621541 | LAMA2 | c.7191C>G (p.His2397Gln) c.7455C>G (p.His2485Gln) n.822C>G n.530C>G c.7188C>G (p.His2396Gln) c.7449C>G (p.His2483Gln) c.7461C>G (p.His2487Gln) c.5586C>G (p.His1862Gln) | |
| 6 | g.129465180C>T | CA451926418 | LAMA2 | c.7191C>T (p.His2397=) c.7455C>T (p.His2485=) n.822C>T n.530C>T c.7188C>T (p.His2396=) c.7449C>T (p.His2483=) c.7461C>T (p.His2487=) c.5586C>T (p.His1862=) | ClinVar dbSNP |
| 6 | g.129465181A= | CA1663192611 | LAMA2 | c.7192A= (p.Ile2398=) c.7456A= (p.Ile2486=) n.823A= n.531A= c.7189A= (p.Ile2397=) c.7450A= (p.Ile2484=) c.7462A= (p.Ile2488=) c.5587A= (p.Ile1863=) | |
| 6 | g.129465181A>C | CA365621545 | LAMA2 | c.7192A>C (p.Ile2398Leu) c.7456A>C (p.Ile2486Leu) n.823A>C n.531A>C c.7189A>C (p.Ile2397Leu) c.7450A>C (p.Ile2484Leu) c.7462A>C (p.Ile2488Leu) c.5587A>C (p.Ile1863Leu) | |
| 6 | g.129465181A>G | CA365621547 | LAMA2 | c.7192A>G (p.Ile2398Val) c.7456A>G (p.Ile2486Val) n.823A>G n.531A>G c.7189A>G (p.Ile2397Val) c.7450A>G (p.Ile2484Val) c.7462A>G (p.Ile2488Val) c.5587A>G (p.Ile1863Val) | dbSNP |
| 6 | g.129465181A>T | CA365621553 | LAMA2 | c.7192A>T (p.Ile2398Leu) c.7456A>T (p.Ile2486Leu) n.823A>T n.531A>T c.7189A>T (p.Ile2397Leu) c.7450A>T (p.Ile2484Leu) c.7462A>T (p.Ile2488Leu) c.5587A>T (p.Ile1863Leu) | |
| 6 | g.129465182T>A | CA365621566 | LAMA2 | c.7193T>A (p.Ile2398Lys) c.7457T>A (p.Ile2486Lys) n.824T>A n.532T>A c.7190T>A (p.Ile2397Lys) c.7451T>A (p.Ile2484Lys) c.7463T>A (p.Ile2488Lys) c.5588T>A (p.Ile1863Lys) | |
| 6 | g.129465182T>C | CA365621559 | LAMA2 | c.7193T>C (p.Ile2398Thr) c.7457T>C (p.Ile2486Thr) n.824T>C n.532T>C c.7190T>C (p.Ile2397Thr) c.7451T>C (p.Ile2484Thr) c.7463T>C (p.Ile2488Thr) c.5588T>C (p.Ile1863Thr) | |
| 6 | g.129465182T>G | CA365621557 | LAMA2 | c.7193T>G (p.Ile2398Arg) c.7457T>G (p.Ile2486Arg) n.824T>G n.532T>G c.7190T>G (p.Ile2397Arg) c.7451T>G (p.Ile2484Arg) c.7463T>G (p.Ile2488Arg) c.5588T>G (p.Ile1863Arg) | |
| 6 | g.129465183A>C | CA451926422 | LAMA2 | c.7194A>C (p.Ile2398=) c.7458A>C (p.Ile2486=) n.825A>C n.533A>C c.7191A>C (p.Ile2397=) c.7452A>C (p.Ile2484=) c.7464A>C (p.Ile2488=) c.5589A>C (p.Ile1863=) | |
| 6 | g.129465183A>G | CA365621569 | LAMA2 | c.7194A>G (p.Ile2398Met) c.7458A>G (p.Ile2486Met) n.825A>G n.533A>G c.7191A>G (p.Ile2397Met) c.7452A>G (p.Ile2484Met) c.7464A>G (p.Ile2488Met) c.5589A>G (p.Ile1863Met) | gnomAD v4 |
| 6 | g.129465183A>T | CA451926423 | LAMA2 | c.7194A>T (p.Ile2398=) c.7458A>T (p.Ile2486=) n.825A>T n.533A>T c.7191A>T (p.Ile2397=) c.7452A>T (p.Ile2484=) c.7464A>T (p.Ile2488=) c.5589A>T (p.Ile1863=) | |
| 6 | g.129465184A>C | CA365621582 | LAMA2 | c.7195A>C (p.Lys2399Gln) c.7459A>C (p.Lys2487Gln) n.826A>C n.534A>C c.7192A>C (p.Lys2398Gln) c.7453A>C (p.Lys2485Gln) c.7465A>C (p.Lys2489Gln) c.5590A>C (p.Lys1864Gln) | |
| 6 | g.129465184A>G | CA365621587 | LAMA2 | c.7195A>G (p.Lys2399Glu) c.7459A>G (p.Lys2487Glu) n.826A>G n.534A>G c.7192A>G (p.Lys2398Glu) c.7453A>G (p.Lys2485Glu) c.7465A>G (p.Lys2489Glu) c.5590A>G (p.Lys1864Glu) | |
| 6 | g.129465184A>T | CA365621590 | LAMA2 | c.7195A>T (p.Lys2399Ter) c.7459A>T (p.Lys2487Ter) n.826A>T n.534A>T c.7192A>T (p.Lys2398Ter) c.7453A>T (p.Lys2485Ter) c.7465A>T (p.Lys2489Ter) c.5590A>T (p.Lys1864Ter) | |
| 6 | g.129465185A= | CA1663192613 | LAMA2 | c.7196A= (p.Lys2399=) c.7460A= (p.Lys2487=) n.827A= n.535A= c.7193A= (p.Lys2398=) c.7454A= (p.Lys2485=) c.7466A= (p.Lys2489=) c.5591A= (p.Lys1864=) | |
| 6 | g.129465185A>C | CA365621596 | LAMA2 | c.7196A>C (p.Lys2399Thr) c.7460A>C (p.Lys2487Thr) n.827A>C n.535A>C c.7193A>C (p.Lys2398Thr) c.7454A>C (p.Lys2485Thr) c.7466A>C (p.Lys2489Thr) c.5591A>C (p.Lys1864Thr) | |
| 6 | g.129465185A>G | CA365621598 | LAMA2 | c.7196A>G (p.Lys2399Arg) c.7460A>G (p.Lys2487Arg) n.827A>G n.535A>G c.7193A>G (p.Lys2398Arg) c.7454A>G (p.Lys2485Arg) c.7466A>G (p.Lys2489Arg) c.5591A>G (p.Lys1864Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465185A>T | CA365621599 | LAMA2 | c.7196A>T (p.Lys2399Ile) c.7460A>T (p.Lys2487Ile) n.827A>T n.535A>T c.7193A>T (p.Lys2398Ile) c.7454A>T (p.Lys2485Ile) c.7466A>T (p.Lys2489Ile) c.5591A>T (p.Lys1864Ile) | |
| 6 | g.129465186A= | CA1663192615 | LAMA2 | c.7197A= (p.Lys2399=) c.7461A= (p.Lys2487=) n.828A= n.536A= c.7194A= (p.Lys2398=) c.7455A= (p.Lys2485=) c.7467A= (p.Lys2489=) c.5592A= (p.Lys1864=) | |
| 6 | g.129465186A>C | CA3994482 | LAMA2 | c.7197A>C (p.Lys2399Asn) c.7461A>C (p.Lys2487Asn) n.828A>C n.536A>C c.7194A>C (p.Lys2398Asn) c.7455A>C (p.Lys2485Asn) c.7467A>C (p.Lys2489Asn) c.5592A>C (p.Lys1864Asn) | dbSNP ExAC gnomAD v2 |
| 6 | g.129465186A>G | CA451926427 | LAMA2 | c.7197A>G (p.Lys2399=) c.7461A>G (p.Lys2487=) n.828A>G n.536A>G c.7194A>G (p.Lys2398=) c.7455A>G (p.Lys2485=) c.7467A>G (p.Lys2489=) c.5592A>G (p.Lys1864=) | |
| 6 | g.129465186A>T | CA365621607 | LAMA2 | c.7197A>T (p.Lys2399Asn) c.7461A>T (p.Lys2487Asn) n.828A>T n.536A>T c.7194A>T (p.Lys2398Asn) c.7455A>T (p.Lys2485Asn) c.7467A>T (p.Lys2489Asn) c.5592A>T (p.Lys1864Asn) | gnomAD v4 |
| 6 | g.129465187G>A | CA146892066 | LAMA2 | c.7198G>A (p.Val2400Ile) c.7462G>A (p.Val2488Ile) n.829G>A n.537G>A c.7195G>A (p.Val2399Ile) c.7456G>A (p.Val2486Ile) c.7468G>A (p.Val2490Ile) c.5593G>A (p.Val1865Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465187G>C | CA365621610 | LAMA2 | c.7198G>C (p.Val2400Leu) c.7462G>C (p.Val2488Leu) n.829G>C n.537G>C c.7195G>C (p.Val2399Leu) c.7456G>C (p.Val2486Leu) c.7468G>C (p.Val2490Leu) c.5593G>C (p.Val1865Leu) | |
| 6 | g.129465187G= | CA1663192616 | LAMA2 | c.7198G= (p.Val2400=) c.7462G= (p.Val2488=) n.829G= n.537G= c.7195G= (p.Val2399=) c.7456G= (p.Val2486=) c.7468G= (p.Val2490=) c.5593G= (p.Val1865=) | |
| 6 | g.129465187G>T | CA365621614 | LAMA2 | c.7198G>T (p.Val2400Phe) c.7462G>T (p.Val2488Phe) n.829G>T n.537G>T c.7195G>T (p.Val2399Phe) c.7456G>T (p.Val2486Phe) c.7468G>T (p.Val2490Phe) c.5593G>T (p.Val1865Phe) | |
| 6 | g.129465188T>A | CA365621618 | LAMA2 | c.7199T>A (p.Val2400Asp) c.7463T>A (p.Val2488Asp) n.830T>A n.538T>A c.7196T>A (p.Val2399Asp) c.7457T>A (p.Val2486Asp) c.7469T>A (p.Val2490Asp) c.5594T>A (p.Val1865Asp) | |
| 6 | g.129465188T>C | CA365621620 | LAMA2 | c.7199T>C (p.Val2400Ala) c.7463T>C (p.Val2488Ala) n.830T>C n.538T>C c.7196T>C (p.Val2399Ala) c.7457T>C (p.Val2486Ala) c.7469T>C (p.Val2490Ala) c.5594T>C (p.Val1865Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465188T>G | CA365621616 | LAMA2 | c.7199T>G (p.Val2400Gly) c.7463T>G (p.Val2488Gly) n.830T>G n.538T>G c.7196T>G (p.Val2399Gly) c.7457T>G (p.Val2486Gly) c.7469T>G (p.Val2490Gly) c.5594T>G (p.Val1865Gly) | |
| 6 | g.129465188T= | CA1663192618 | LAMA2 | c.7199T= (p.Val2400=) c.7463T= (p.Val2488=) n.830T= n.538T= c.7196T= (p.Val2399=) c.7457T= (p.Val2486=) c.7469T= (p.Val2490=) c.5594T= (p.Val1865=) | |
| 6 | g.129465189C>A | CA451926430 | LAMA2 | c.7200C>A (p.Val2400=) c.7464C>A (p.Val2488=) n.831C>A n.539C>A c.7197C>A (p.Val2399=) c.7458C>A (p.Val2486=) c.7470C>A (p.Val2490=) c.5595C>A (p.Val1865=) | gnomAD v4 |
| 6 | g.129465189C>G | CA451926433 | LAMA2 | c.7200C>G (p.Val2400=) c.7464C>G (p.Val2488=) n.831C>G n.539C>G c.7197C>G (p.Val2399=) c.7458C>G (p.Val2486=) c.7470C>G (p.Val2490=) c.5595C>G (p.Val1865=) | |
| 6 | g.129465189C>T | CA451926432 | LAMA2 | c.7200C>T (p.Val2400=) c.7464C>T (p.Val2488=) n.831C>T n.539C>T c.7197C>T (p.Val2399=) c.7458C>T (p.Val2486=) c.7470C>T (p.Val2490=) c.5595C>T (p.Val1865=) | dbSNP |
| 6 | g.129465190A>C | CA365621624 | LAMA2 | c.7201A>C (p.Ser2401Arg) c.7465A>C (p.Ser2489Arg) n.832A>C n.540A>C c.7198A>C (p.Ser2400Arg) c.7459A>C (p.Ser2487Arg) c.7471A>C (p.Ser2491Arg) c.5596A>C (p.Ser1866Arg) | |
| 6 | g.129465190A>G | CA365621626 | LAMA2 | c.7201A>G (p.Ser2401Gly) c.7465A>G (p.Ser2489Gly) n.832A>G n.540A>G c.7198A>G (p.Ser2400Gly) c.7459A>G (p.Ser2487Gly) c.7471A>G (p.Ser2491Gly) c.5596A>G (p.Ser1866Gly) | |
| 6 | g.129465190A>T | CA365621628 | LAMA2 | c.7201A>T (p.Ser2401Cys) c.7465A>T (p.Ser2489Cys) n.832A>T n.540A>T c.7198A>T (p.Ser2400Cys) c.7459A>T (p.Ser2487Cys) c.7471A>T (p.Ser2491Cys) c.5596A>T (p.Ser1866Cys) | |
| 6 | g.129465191G>A | CA365621645 | LAMA2 | c.7202G>A (p.Ser2401Asn) c.7466G>A (p.Ser2489Asn) n.833G>A n.541G>A c.7199G>A (p.Ser2400Asn) c.7460G>A (p.Ser2487Asn) c.7472G>A (p.Ser2491Asn) c.5597G>A (p.Ser1866Asn) | |
| 6 | g.129465191G>C | CA365621649 | LAMA2 | c.7202G>C (p.Ser2401Thr) c.7466G>C (p.Ser2489Thr) n.833G>C n.541G>C c.7199G>C (p.Ser2400Thr) c.7460G>C (p.Ser2487Thr) c.7472G>C (p.Ser2491Thr) c.5597G>C (p.Ser1866Thr) | |
| 6 | g.129465191G>T | CA365621653 | LAMA2 | c.7202G>T (p.Ser2401Ile) c.7466G>T (p.Ser2489Ile) n.833G>T n.541G>T c.7199G>T (p.Ser2400Ile) c.7460G>T (p.Ser2487Ile) c.7472G>T (p.Ser2491Ile) c.5597G>T (p.Ser1866Ile) | |
| 6 | g.129465192T>A | CA365621659 | LAMA2 | c.7203T>A (p.Ser2401Arg) c.7467T>A (p.Ser2489Arg) n.834T>A n.542T>A c.7200T>A (p.Ser2400Arg) c.7461T>A (p.Ser2487Arg) c.7473T>A (p.Ser2491Arg) c.5598T>A (p.Ser1866Arg) | |
| 6 | g.129465192T>C | CA451926437 | LAMA2 | c.7203T>C (p.Ser2401=) c.7467T>C (p.Ser2489=) n.834T>C n.542T>C c.7200T>C (p.Ser2400=) c.7461T>C (p.Ser2487=) c.7473T>C (p.Ser2491=) c.5598T>C (p.Ser1866=) | |
| 6 | g.129465192T>G | CA365621657 | LAMA2 | c.7203T>G (p.Ser2401Arg) c.7467T>G (p.Ser2489Arg) n.834T>G n.542T>G c.7200T>G (p.Ser2400Arg) c.7461T>G (p.Ser2487Arg) c.7473T>G (p.Ser2491Arg) c.5598T>G (p.Ser1866Arg) | |
| 6 | g.129465193T>A | CA365621663 | LAMA2 | c.7204T>A (p.Tyr2402Asn) c.7468T>A (p.Tyr2490Asn) n.835T>A n.543T>A c.7201T>A (p.Tyr2401Asn) c.7462T>A (p.Tyr2488Asn) c.7474T>A (p.Tyr2492Asn) c.5599T>A (p.Tyr1867Asn) | |
| 6 | g.129465193T>C | CA365621664 | LAMA2 | c.7204T>C (p.Tyr2402His) c.7468T>C (p.Tyr2490His) n.835T>C n.543T>C c.7201T>C (p.Tyr2401His) c.7462T>C (p.Tyr2488His) c.7474T>C (p.Tyr2492His) c.5599T>C (p.Tyr1867His) | |
| 6 | g.129465193T>G | CA365621668 | LAMA2 | c.7204T>G (p.Tyr2402Asp) c.7468T>G (p.Tyr2490Asp) n.835T>G n.543T>G c.7201T>G (p.Tyr2401Asp) c.7462T>G (p.Tyr2488Asp) c.7474T>G (p.Tyr2492Asp) c.5599T>G (p.Tyr1867Asp) | |
| 6 | g.129465194A>C | CA365621676 | LAMA2 | c.7205A>C (p.Tyr2402Ser) c.7469A>C (p.Tyr2490Ser) n.836A>C n.544A>C c.7202A>C (p.Tyr2401Ser) c.7463A>C (p.Tyr2488Ser) c.7475A>C (p.Tyr2492Ser) c.5600A>C (p.Tyr1867Ser) | |
| 6 | g.129465194A>G | CA365621681 | LAMA2 | c.7205A>G (p.Tyr2402Cys) c.7469A>G (p.Tyr2490Cys) n.836A>G n.544A>G c.7202A>G (p.Tyr2401Cys) c.7463A>G (p.Tyr2488Cys) c.7475A>G (p.Tyr2492Cys) c.5600A>G (p.Tyr1867Cys) | |
| 6 | g.129465194A>T | CA365621686 | LAMA2 | c.7205A>T (p.Tyr2402Phe) c.7469A>T (p.Tyr2490Phe) n.836A>T n.544A>T c.7202A>T (p.Tyr2401Phe) c.7463A>T (p.Tyr2488Phe) c.7475A>T (p.Tyr2492Phe) c.5600A>T (p.Tyr1867Phe) | |
| 6 | g.129465195C>A | CA365621690 | LAMA2 | c.7206C>A (p.Tyr2402Ter) c.7470C>A (p.Tyr2490Ter) n.837C>A n.545C>A c.7203C>A (p.Tyr2401Ter) c.7464C>A (p.Tyr2488Ter) c.7476C>A (p.Tyr2492Ter) c.5601C>A (p.Tyr1867Ter) | |
| 6 | g.129465195C= | CA1663192621 | LAMA2 | c.7206C= (p.Tyr2402=) c.7470C= (p.Tyr2490=) n.837C= n.545C= c.7203C= (p.Tyr2401=) c.7464C= (p.Tyr2488=) c.7476C= (p.Tyr2492=) c.5601C= (p.Tyr1867=) | |
| 6 | g.129465195C>G | CA365621691 | LAMA2 | c.7206C>G (p.Tyr2402Ter) c.7470C>G (p.Tyr2490Ter) n.837C>G n.545C>G c.7203C>G (p.Tyr2401Ter) c.7464C>G (p.Tyr2488Ter) c.7476C>G (p.Tyr2492Ter) c.5601C>G (p.Tyr1867Ter) | |
| 6 | g.129465195C>T | CA3994483 | LAMA2 | c.7206C>T (p.Tyr2402=) c.7470C>T (p.Tyr2490=) n.837C>T n.545C>T c.7203C>T (p.Tyr2401=) c.7464C>T (p.Tyr2488=) c.7476C>T (p.Tyr2492=) c.5601C>T (p.Tyr1867=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465196G>A | CA3994484 | LAMA2 | c.7207G>A (p.Asp2403Asn) c.7471G>A (p.Asp2491Asn) n.838G>A n.546G>A c.7204G>A (p.Asp2402Asn) c.7465G>A (p.Asp2489Asn) c.7477G>A (p.Asp2493Asn) c.5602G>A (p.Asp1868Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129465196G>C | CA365621694 | LAMA2 | c.7207G>C (p.Asp2403His) c.7471G>C (p.Asp2491His) n.838G>C n.546G>C c.7204G>C (p.Asp2402His) c.7465G>C (p.Asp2489His) c.7477G>C (p.Asp2493His) c.5602G>C (p.Asp1868His) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465196G= | CA1663192625 | LAMA2 | c.7207G= (p.Asp2403=) c.7471G= (p.Asp2491=) n.838G= n.546G= c.7204G= (p.Asp2402=) c.7465G= (p.Asp2489=) c.7477G= (p.Asp2493=) c.5602G= (p.Asp1868=) | |
| 6 | g.129465196G>T | CA365621697 | LAMA2 | c.7207G>T (p.Asp2403Tyr) c.7471G>T (p.Asp2491Tyr) n.838G>T n.546G>T c.7204G>T (p.Asp2402Tyr) c.7465G>T (p.Asp2489Tyr) c.7477G>T (p.Asp2493Tyr) c.5602G>T (p.Asp1868Tyr) | |
| 6 | g.129465196_129465197dup | CA658796829 | LAMA2 | c.7207_7208dup (p.Asp2403GlufsTer?) c.7471_7472dup (p.Asp2491GlufsTer?) n.838_839dup n.546_547dup c.7204_7205dup (p.Asp2402GlufsTer?) c.7465_7466dup (p.Asp2489GlufsTer?) c.7477_7478dup (p.Asp2493GlufsTer?) c.5602_5603dup (p.Asp1868GlufsTer?) | ClinVar dbSNP |
| 6 | g.129465197A>C | CA365621702 | LAMA2 | c.7208A>C (p.Asp2403Ala) c.7472A>C (p.Asp2491Ala) n.839A>C n.547A>C c.7205A>C (p.Asp2402Ala) c.7466A>C (p.Asp2489Ala) c.7478A>C (p.Asp2493Ala) c.5603A>C (p.Asp1868Ala) | |
| 6 | g.129465197A>G | CA365621707 | LAMA2 | c.7208A>G (p.Asp2403Gly) c.7472A>G (p.Asp2491Gly) n.839A>G n.547A>G c.7205A>G (p.Asp2402Gly) c.7466A>G (p.Asp2489Gly) c.7478A>G (p.Asp2493Gly) c.5603A>G (p.Asp1868Gly) | |
| 6 | g.129465197A>T | CA365621710 | LAMA2 | c.7208A>T (p.Asp2403Val) c.7472A>T (p.Asp2491Val) n.839A>T n.547A>T c.7205A>T (p.Asp2402Val) c.7466A>T (p.Asp2489Val) c.7478A>T (p.Asp2493Val) c.5603A>T (p.Asp1868Val) | |
| 6 | g.129465198T>A | CA365621716 | LAMA2 | c.7209T>A (p.Asp2403Glu) c.7473T>A (p.Asp2491Glu) n.840T>A n.548T>A c.7206T>A (p.Asp2402Glu) c.7467T>A (p.Asp2489Glu) c.7479T>A (p.Asp2493Glu) c.5604T>A (p.Asp1868Glu) | |
| 6 | g.129465198T>C | CA3994485 | LAMA2 | c.7209T>C (p.Asp2403=) c.7473T>C (p.Asp2491=) n.840T>C n.548T>C c.7206T>C (p.Asp2402=) c.7467T>C (p.Asp2489=) c.7479T>C (p.Asp2493=) c.5604T>C (p.Asp1868=) | ClinVar dbSNP ExAC |
| 6 | g.129465198T>G | CA365621720 | LAMA2 | c.7209T>G (p.Asp2403Glu) c.7473T>G (p.Asp2491Glu) n.840T>G n.548T>G c.7206T>G (p.Asp2402Glu) c.7467T>G (p.Asp2489Glu) c.7479T>G (p.Asp2493Glu) c.5604T>G (p.Asp1868Glu) | |
| 6 | g.129465198T= | CA1663192629 | LAMA2 | c.7209T= (p.Asp2403=) c.7473T= (p.Asp2491=) n.840T= n.548T= c.7206T= (p.Asp2402=) c.7467T= (p.Asp2489=) c.7479T= (p.Asp2493=) c.5604T= (p.Asp1868=) | |
| 6 | g.129465199C>A | CA365621725 | LAMA2 | c.7210C>A (p.Leu2404Met) c.7474C>A (p.Leu2492Met) n.841C>A n.549C>A c.7207C>A (p.Leu2403Met) c.7468C>A (p.Leu2490Met) c.7480C>A (p.Leu2494Met) c.5605C>A (p.Leu1869Met) | gnomAD v4 |
| 6 | g.129465199C= | CA1663192631 | LAMA2 | c.7210C= (p.Leu2404=) c.7474C= (p.Leu2492=) n.841C= n.549C= c.7207C= (p.Leu2403=) c.7468C= (p.Leu2490=) c.7480C= (p.Leu2494=) c.5605C= (p.Leu1869=) | |
| 6 | g.129465199C>G | CA3994486 | LAMA2 | c.7210C>G (p.Leu2404Val) c.7474C>G (p.Leu2492Val) n.841C>G n.549C>G c.7207C>G (p.Leu2403Val) c.7468C>G (p.Leu2490Val) c.7480C>G (p.Leu2494Val) c.5605C>G (p.Leu1869Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465199C>T | CA451926442 | LAMA2 | c.7210C>T (p.Leu2404=) c.7474C>T (p.Leu2492=) n.841C>T n.549C>T c.7207C>T (p.Leu2403=) c.7468C>T (p.Leu2490=) c.7480C>T (p.Leu2494=) c.5605C>T (p.Leu1869=) | |
| 6 | g.129465200T>A | CA365621743 | LAMA2 | c.7211T>A (p.Leu2404Gln) c.7475T>A (p.Leu2492Gln) n.842T>A n.550T>A c.7208T>A (p.Leu2403Gln) c.7469T>A (p.Leu2490Gln) c.7481T>A (p.Leu2494Gln) c.5606T>A (p.Leu1869Gln) | |
| 6 | g.129465200T>C | CA365621741 | LAMA2 | c.7211T>C (p.Leu2404Pro) c.7475T>C (p.Leu2492Pro) n.842T>C n.550T>C c.7208T>C (p.Leu2403Pro) c.7469T>C (p.Leu2490Pro) c.7481T>C (p.Leu2494Pro) c.5606T>C (p.Leu1869Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465200T>G | CA365621733 | LAMA2 | c.7211T>G (p.Leu2404Arg) c.7475T>G (p.Leu2492Arg) n.842T>G n.550T>G c.7208T>G (p.Leu2403Arg) c.7469T>G (p.Leu2490Arg) c.7481T>G (p.Leu2494Arg) c.5606T>G (p.Leu1869Arg) | gnomAD v4 |
| 6 | g.129465200T= | CA1663192632 | LAMA2 | c.7211T= (p.Leu2404=) c.7475T= (p.Leu2492=) n.842T= n.550T= c.7208T= (p.Leu2403=) c.7469T= (p.Leu2490=) c.7481T= (p.Leu2494=) c.5606T= (p.Leu1869=) | |
| 6 | g.129465201G>A | CA451926443 | LAMA2 | c.7212G>A (p.Leu2404=) c.7476G>A (p.Leu2492=) n.843G>A n.551G>A c.7209G>A (p.Leu2403=) c.7470G>A (p.Leu2490=) c.7482G>A (p.Leu2494=) c.5607G>A (p.Leu1869=) | |
| 6 | g.129465201G>C | CA451926445 | LAMA2 | c.7212G>C (p.Leu2404=) c.7476G>C (p.Leu2492=) n.843G>C n.551G>C c.7209G>C (p.Leu2403=) c.7470G>C (p.Leu2490=) c.7482G>C (p.Leu2494=) c.5607G>C (p.Leu1869=) | |
| 6 | g.129465201G>T | CA451926444 | LAMA2 | c.7212G>T (p.Leu2404=) c.7476G>T (p.Leu2492=) n.843G>T n.551G>T c.7209G>T (p.Leu2403=) c.7470G>T (p.Leu2490=) c.7482G>T (p.Leu2494=) c.5607G>T (p.Leu1869=) | |
| 6 | g.129465202G>A | CA365621744 | LAMA2 | c.7213G>A (p.Gly2405Ser) c.7477G>A (p.Gly2493Ser) n.844G>A n.552G>A c.7210G>A (p.Gly2404Ser) c.7471G>A (p.Gly2491Ser) c.7483G>A (p.Gly2495Ser) c.5608G>A (p.Gly1870Ser) | |
| 6 | g.129465202G>C | CA365621747 | LAMA2 | c.7213G>C (p.Gly2405Arg) c.7477G>C (p.Gly2493Arg) n.844G>C n.552G>C c.7210G>C (p.Gly2404Arg) c.7471G>C (p.Gly2491Arg) c.7483G>C (p.Gly2495Arg) c.5608G>C (p.Gly1870Arg) | |
| 6 | g.129465202G>T | CA365621751 | LAMA2 | c.7213G>T (p.Gly2405Cys) c.7477G>T (p.Gly2493Cys) n.844G>T n.552G>T c.7210G>T (p.Gly2404Cys) c.7471G>T (p.Gly2491Cys) c.7483G>T (p.Gly2495Cys) c.5608G>T (p.Gly1870Cys) | |
| 6 | g.129465203G>A | CA3994487 | LAMA2 | c.7214G>A (p.Gly2405Asp) c.7478G>A (p.Gly2493Asp) n.845G>A n.553G>A c.7211G>A (p.Gly2404Asp) c.7472G>A (p.Gly2491Asp) c.7484G>A (p.Gly2495Asp) c.5609G>A (p.Gly1870Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465203G>C | CA365621762 | LAMA2 | c.7214G>C (p.Gly2405Ala) c.7478G>C (p.Gly2493Ala) n.845G>C n.553G>C c.7211G>C (p.Gly2404Ala) c.7472G>C (p.Gly2491Ala) c.7484G>C (p.Gly2495Ala) c.5609G>C (p.Gly1870Ala) | |
| 6 | g.129465203G= | CA1663192634 | LAMA2 | c.7214G= (p.Gly2405=) c.7478G= (p.Gly2493=) n.845G= n.553G= c.7211G= (p.Gly2404=) c.7472G= (p.Gly2491=) c.7484G= (p.Gly2495=) c.5609G= (p.Gly1870=) | |
| 6 | g.129465203G>T | CA365621766 | LAMA2 | c.7214G>T (p.Gly2405Val) c.7478G>T (p.Gly2493Val) n.845G>T n.553G>T c.7211G>T (p.Gly2404Val) c.7472G>T (p.Gly2491Val) c.7484G>T (p.Gly2495Val) c.5609G>T (p.Gly1870Val) | gnomAD v4 |
| 6 | g.129465204C>A | CA451926448 | LAMA2 | c.7215C>A (p.Gly2405=) c.7479C>A (p.Gly2493=) n.846C>A n.554C>A c.7212C>A (p.Gly2404=) c.7473C>A (p.Gly2491=) c.7485C>A (p.Gly2495=) c.5610C>A (p.Gly1870=) | |
| 6 | g.129465204C>G | CA451926447 | LAMA2 | c.7215C>G (p.Gly2405=) c.7479C>G (p.Gly2493=) n.846C>G n.554C>G c.7212C>G (p.Gly2404=) c.7473C>G (p.Gly2491=) c.7485C>G (p.Gly2495=) c.5610C>G (p.Gly1870=) | |
| 6 | g.129465204C>T | CA451926446 | LAMA2 | c.7215C>T (p.Gly2405=) c.7479C>T (p.Gly2493=) n.846C>T n.554C>T c.7212C>T (p.Gly2404=) c.7473C>T (p.Gly2491=) c.7485C>T (p.Gly2495=) c.5610C>T (p.Gly1870=) | |
| 6 | g.129465204_129465206delinsA | CA2580074991 | LAMA2 | c.7215_7217delinsA (p.Ser2406ArgfsTer12) c.7479_7481delinsA (p.Ser2494ArgfsTer12) n.846_848delinsA n.554_556delinsA c.7212_7214delinsA (p.Ser2405ArgfsTer12) c.7473_7475delinsA (p.Ser2492ArgfsTer12) c.7485_7487delinsA (p.Ser2496ArgfsTer12) c.5610_5612delinsA (p.Ser1871ArgfsTer12) | ClinVar |
| 6 | g.129465205T>A | CA365621788 | LAMA2 | c.7216T>A (p.Ser2406Thr) c.7480T>A (p.Ser2494Thr) n.847T>A n.555T>A c.7213T>A (p.Ser2405Thr) c.7474T>A (p.Ser2492Thr) c.7486T>A (p.Ser2496Thr) c.5611T>A (p.Ser1871Thr) | |
| 6 | g.129465205T>C | CA365621784 | LAMA2 | c.7216T>C (p.Ser2406Pro) c.7480T>C (p.Ser2494Pro) n.847T>C n.555T>C c.7213T>C (p.Ser2405Pro) c.7474T>C (p.Ser2492Pro) c.7486T>C (p.Ser2496Pro) c.5611T>C (p.Ser1871Pro) | ClinVar dbSNP |
| 6 | g.129465205T>G | CA365621782 | LAMA2 | c.7216T>G (p.Ser2406Ala) c.7480T>G (p.Ser2494Ala) n.847T>G n.555T>G c.7213T>G (p.Ser2405Ala) c.7474T>G (p.Ser2492Ala) c.7486T>G (p.Ser2496Ala) c.5611T>G (p.Ser1871Ala) | |
| 6 | g.129465206C>A | CA365621791 | LAMA2 | c.7217C>A (p.Ser2406Ter) c.7481C>A (p.Ser2494Ter) n.848C>A n.556C>A c.7214C>A (p.Ser2405Ter) c.7475C>A (p.Ser2492Ter) c.7487C>A (p.Ser2496Ter) c.5612C>A (p.Ser1871Ter) | |
| 6 | g.129465206C>G | CA365621793 | LAMA2 | c.7217C>G (p.Ser2406Ter) c.7481C>G (p.Ser2494Ter) n.848C>G n.556C>G c.7214C>G (p.Ser2405Ter) c.7475C>G (p.Ser2492Ter) c.7487C>G (p.Ser2496Ter) c.5612C>G (p.Ser1871Ter) | |
| 6 | g.129465206C>T | CA365621795 | LAMA2 | c.7217C>T (p.Ser2406Leu) c.7481C>T (p.Ser2494Leu) n.848C>T n.556C>T c.7214C>T (p.Ser2405Leu) c.7475C>T (p.Ser2492Leu) c.7487C>T (p.Ser2496Leu) c.5612C>T (p.Ser1871Leu) | gnomAD v4 |
| 6 | g.129465207A>C | CA451926449 | LAMA2 | c.7218A>C (p.Ser2406=) c.7482A>C (p.Ser2494=) n.849A>C n.557A>C c.7215A>C (p.Ser2405=) c.7476A>C (p.Ser2492=) c.7488A>C (p.Ser2496=) c.5613A>C (p.Ser1871=) | gnomAD v4 |
| 6 | g.129465207A>G | CA451926451 | LAMA2 | c.7218A>G (p.Ser2406=) c.7482A>G (p.Ser2494=) n.849A>G n.557A>G c.7215A>G (p.Ser2405=) c.7476A>G (p.Ser2492=) c.7488A>G (p.Ser2496=) c.5613A>G (p.Ser1871=) | gnomAD v4 |
| 6 | g.129465207A>T | CA451926450 | LAMA2 | c.7218A>T (p.Ser2406=) c.7482A>T (p.Ser2494=) n.849A>T n.557A>T c.7215A>T (p.Ser2405=) c.7476A>T (p.Ser2492=) c.7488A>T (p.Ser2496=) c.5613A>T (p.Ser1871=) | |
| 6 | g.129465208G>A | CA365621797 | LAMA2 | c.7219G>A (p.Gly2407Arg) c.7483G>A (p.Gly2495Arg) n.850G>A c.7216G>A (p.Gly2406Arg) c.7477G>A (p.Gly2493Arg) c.7489G>A (p.Gly2497Arg) c.5614G>A (p.Gly1872Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465208G>C | CA365621801 | LAMA2 | c.7219G>C (p.Gly2407Arg) c.7483G>C (p.Gly2495Arg) n.850G>C c.7216G>C (p.Gly2406Arg) c.7477G>C (p.Gly2493Arg) c.7489G>C (p.Gly2497Arg) c.5614G>C (p.Gly1872Arg) | |
| 6 | g.129465208G= | CA1663192636 | LAMA2 | c.7219G= (p.Gly2407=) c.7483G= (p.Gly2495=) n.850G= c.7216G= (p.Gly2406=) c.7477G= (p.Gly2493=) c.7489G= (p.Gly2497=) c.5614G= (p.Gly1872=) | |
| 6 | g.129465208G>T | CA365621818 | LAMA2 | c.7219G>T (p.Gly2407Ter) c.7483G>T (p.Gly2495Ter) n.850G>T c.7216G>T (p.Gly2406Ter) c.7477G>T (p.Gly2493Ter) c.7489G>T (p.Gly2497Ter) c.5614G>T (p.Gly1872Ter) |