Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.183232186G>A | CA16040680 | LAMC2 | c.1858-1G>A (n.1858-1G>A) | ClinVar dbSNP gnomAD v4 |
1 | g.183232186G>C | CA343691315 | LAMC2 | c.1858-1G>C (n.1858-1G>C) | |
1 | g.183232186G= | CA1211821106 | LAMC2 | c.1858-1G= (n.1858-1G=) | |
1 | g.183232186G>T | CA343691314 | LAMC2 | c.1858-1G>T (n.1858-1G>T) | |
1 | g.183232187A>C | CA343691318 | LAMC2 | c.1858A>C (p.Met620Leu) | |
1 | g.183232187A>G | CA343691320 | LAMC2 | c.1858A>G (p.Met620Val) | |
1 | g.183232187A>T | CA343691323 | LAMC2 | c.1858A>T (p.Met620Leu) | |
1 | g.183232188T>A | CA343691327 | LAMC2 | c.1859T>A (p.Met620Lys) | |
1 | g.183232188T>C | CA343691338 | LAMC2 | c.1859T>C (p.Met620Thr) | gnomAD v4 |
1 | g.183232188T>G | CA343691340 | LAMC2 | c.1859T>G (p.Met620Arg) | |
1 | g.183232188T= | CA1211821107 | LAMC2 | c.1859T= (p.Met620=) | |
1 | g.183232189G>A | CA343691345 | LAMC2 | c.1860G>A (p.Met620Ile) | |
1 | g.183232189G>C | CA343691346 | LAMC2 | c.1860G>C (p.Met620Ile) | |
1 | g.183232189G>T | CA343691349 | LAMC2 | c.1860G>T (p.Met620Ile) | |
1 | g.183232190dup | CA1139656437 | LAMC2 | c.1861dup (p.Asp621GlyfsTer21) | ClinVar dbSNP |
1 | g.183232190G>A | CA343691351 | LAMC2 | c.1861G>A (p.Asp621Asn) | |
1 | g.183232190G>C | CA343691355 | LAMC2 | c.1861G>C (p.Asp621His) | |
1 | g.183232190G>T | CA343691359 | LAMC2 | c.1861G>T (p.Asp621Tyr) | |
1 | g.183232191A>C | CA343691361 | LAMC2 | c.1862A>C (p.Asp621Ala) | |
1 | g.183232191A>G | CA343691366 | LAMC2 | c.1862A>G (p.Asp621Gly) | |
1 | g.183232191A>T | CA343691364 | LAMC2 | c.1862A>T (p.Asp621Val) | |
1 | g.183232192T>A | CA343691369 | LAMC2 | c.1863T>A (p.Asp621Glu) | |
1 | g.183232192T>C | CA422119566 | LAMC2 | c.1863T>C (p.Asp621=) | |
1 | g.183232192T>G | CA343691371 | LAMC2 | c.1863T>G (p.Asp621Glu) | |
1 | g.183232193C>A | CA343691379 | LAMC2 | c.1864C>A (p.Gln622Lys) | |
1 | g.183232193C= | CA1211821108 | LAMC2 | c.1864C= (p.Gln622=) | |
1 | g.183232193C>G | CA343691382 | LAMC2 | c.1864C>G (p.Gln622Glu) | |
1 | g.183232193C>T | CA343691387 | LAMC2 | c.1864C>T (p.Gln622Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.183232194A= | CA1211821109 | LAMC2 | c.1865A= (p.Gln622=) | |
1 | g.183232194A>C | CA343691391 | LAMC2 | c.1865A>C (p.Gln622Pro) | |
1 | g.183232194A>G | CA33981053 | LAMC2 | c.1865A>G (p.Gln622Arg) | dbSNP COSMIC |
1 | g.183232194A>T | CA343691398 | LAMC2 | c.1865A>T (p.Gln622Leu) | |
1 | g.183232195G>A | CA422119567 | LAMC2 | c.1866G>A (p.Gln622=) | gnomAD v4 |
1 | g.183232195G>C | CA343691401 | LAMC2 | c.1866G>C (p.Gln622His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.183232195G= | CA1211821110 | LAMC2 | c.1866G= (p.Gln622=) | |
1 | g.183232195G>T | CA343691403 | LAMC2 | c.1866G>T (p.Gln622His) | |
1 | g.183232196T>A | CA343691410 | LAMC2 | c.1867T>A (p.Phe623Ile) | |
1 | g.183232196T>C | CA343691413 | LAMC2 | c.1867T>C (p.Phe623Leu) | |
1 | g.183232196T>G | CA343691408 | LAMC2 | c.1867T>G (p.Phe623Val) | |
1 | g.183232197T>A | CA343691417 | LAMC2 | c.1868T>A (p.Phe623Tyr) | |
1 | g.183232197T>C | CA343691419 | LAMC2 | c.1868T>C (p.Phe623Ser) | |
1 | g.183232197T>G | CA343691422 | LAMC2 | c.1868T>G (p.Phe623Cys) | |
1 | g.183232198T>A | CA343691426 | LAMC2 | c.1869T>A (p.Phe623Leu) | |
1 | g.183232198T>C | CA422119568 | LAMC2 | c.1869T>C (p.Phe623=) | |
1 | g.183232198T>G | CA343691428 | LAMC2 | c.1869T>G (p.Phe623Leu) | |
1 | g.183232199A>C | CA343691438 | LAMC2 | c.1870A>C (p.Met624Leu) | |
1 | g.183232199A>G | CA343691435 | LAMC2 | c.1870A>G (p.Met624Val) | |
1 | g.183232199A>T | CA343691433 | LAMC2 | c.1870A>T (p.Met624Leu) | |
1 | g.183232200T>A | CA343691441 | LAMC2 | c.1871T>A (p.Met624Lys) | |
1 | g.183232200T>C | CA343691451 | LAMC2 | c.1871T>C (p.Met624Thr) | gnomAD v4 |