Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153743054_153743061dup | CA2697544817 | ABCD1 | c.1848_1855dup (p.Phe619SerfsTer20) n.2320_2327dup | ClinVar |
X | g.153743061T>A | CA415116331 | ABCD1 | c.1855T>A (p.Phe619Ile) n.2327T>A | |
X | g.153743061T>C | CA415116334 | ABCD1 | c.1855T>C (p.Phe619Leu) n.2327T>C | |
X | g.153743061T>G | CA415116337 | ABCD1 | c.1855T>G (p.Phe619Val) n.2327T>G | |
X | g.153743062T>A | CA415116342 | ABCD1 | c.1856T>A (p.Phe619Tyr) n.2328T>A | |
X | g.153743062T>C | CA415116345 | ABCD1 | c.1856T>C (p.Phe619Ser) n.2328T>C | |
X | g.153743062T>G | CA415116346 | ABCD1 | c.1856T>G (p.Phe619Cys) n.2328T>G | |
X | g.153743062_153743065delinsTCTA | CA2466457551 | ABCD1 | c.1856_1859delinsTCTA (p.Phe619=) n.2328_2331delinsTCTA | |
X | g.153743062_153743088del | CA2580617840 | ABCD1 | c.1856_1865+17del n.2328_2337+17del | ClinVar |
X | g.153743063C>A | CA415116349 | ABCD1 | c.1857C>A (p.Phe619Leu) n.2329C>A | ClinVar gnomAD v4 |
X | g.153743063C>G | CA415116348 | ABCD1 | c.1857C>G (p.Phe619Leu) n.2329C>G | |
X | g.153743063C>T | CA519230559 | ABCD1 | c.1857C>T (p.Phe619=) n.2329C>T | |
X | g.153743064_153743066del | CA415116347 | ABCD1 | c.1858_1860del (p.Tyr620del) n.2330_2332del | dbSNP |
X | g.153743064T>A | CA415116354 | ABCD1 | c.1858T>A (p.Tyr620Asn) n.2330T>A | |
X | g.153743064T>C | CA415116357 | ABCD1 | c.1858T>C (p.Tyr620His) n.2330T>C | dbSNP gnomAD v2 |
X | g.153743064T>G | CA415116359 | ABCD1 | c.1858T>G (p.Tyr620Asp) n.2330T>G | |
X | g.153743064T= | CA2466457552 | ABCD1 | c.1858T= (p.Tyr620=) n.2330T= | |
X | g.153743064_153743065dup | CA2695236847 | ABCD1 | c.1858_1859dup (p.His621ThrfsTer16) n.2330_2331dup | |
X | g.153743065del | CA2695236848 | ABCD1 | c.1859del (p.Tyr620SerfsTer16) n.2331del | |
X | g.153743065A>C | CA415116363 | ABCD1 | c.1859A>C (p.Tyr620Ser) n.2331A>C | |
X | g.153743065A>G | CA415116364 | ABCD1 | c.1859A>G (p.Tyr620Cys) n.2331A>G | |
X | g.153743065A>T | CA415116365 | ABCD1 | c.1859A>T (p.Tyr620Phe) n.2331A>T | |
X | g.153743066C>A | CA415116366 | ABCD1 | c.1860C>A (p.Tyr620Ter) n.2332C>A | |
X | g.153743066C>G | CA415116367 | ABCD1 | c.1860C>G (p.Tyr620Ter) n.2332C>G | |
X | g.153743066C>T | CA519230581 | ABCD1 | c.1860C>T (p.Tyr620=) n.2332C>T | ClinVar dbSNP gnomAD v4 |
X | g.153743067C>A | CA415116368 | ABCD1 | c.1861C>A (p.His621Asn) n.2333C>A | gnomAD v4 |
X | g.153743067C>G | CA415116369 | ABCD1 | c.1861C>G (p.His621Asp) n.2333C>G | |
X | g.153743067C>T | CA415116372 | ABCD1 | c.1861C>T (p.His621Tyr) n.2333C>T | |
X | g.153743069_153743070del | CA2579730134 | ABCD1 | c.1863_1864del (p.His621GlnfsTer9) n.2335_2336del | |
X | g.153743068A>C | CA415116375 | ABCD1 | c.1862A>C (p.His621Pro) n.2334A>C | |
X | g.153743068A>G | CA415116379 | ABCD1 | c.1862A>G (p.His621Arg) n.2334A>G | |
X | g.153743068A>T | CA415116380 | ABCD1 | c.1862A>T (p.His621Leu) n.2334A>T | |
X | g.153743069C>A | CA415116390 | ABCD1 | c.1863C>A (p.His621Gln) n.2335C>A | gnomAD v4 |
X | g.153743069C= | CA2466457553 | ABCD1 | c.1863C= (p.His621=) n.2335C= | |
X | g.153743069C>G | CA415116385 | ABCD1 | c.1863C>G (p.His621Gln) n.2335C>G | |
X | g.153743069C>T | CA10550329 | ABCD1 | c.1863C>T (p.His621=) n.2335C>T | dbSNP ExAC |
X | g.153743070A>C | CA519230608 | ABCD1 | c.1864A>C (p.Arg622=) n.2336A>C | |
X | g.153743070A>G | CA415116394 | ABCD1 | c.1864A>G (p.Arg622Gly) n.2336A>G | gnomAD v4 |
X | g.153743070A>T | CA415116398 | ABCD1 | c.1864A>T (p.Arg622Trp) n.2336A>T | gnomAD v4 |
X | g.153743071G>A | CA10550330 | ABCD1 | c.1865G>A (p.Arg622Lys) n.2337G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153743071G>C | CA415116405 | ABCD1 | c.1865G>C (p.Arg622Thr) n.2337G>C | |
X | g.153743071G= | CA2466457554 | ABCD1 | c.1865G= (p.Arg622=) n.2337G= | |
X | g.153743071G>T | CA415116406 | ABCD1 | c.1865G>T (p.Arg622Met) n.2337G>T | gnomAD v4 |
X | g.153743071_153743074delinsTGTTCT | CA2695236849 | ABCD1 | c.1865_1865+3delinsTGTTCT n.2337_2337+3delinsTGTTCT | |
X | g.153743072G>A | CA415116407 | ABCD1 | c.1865+1G>A (n.1865+1G>A) n.2337+1G>A | ClinVar dbSNP |
X | g.153743072G>C | CA415116410 | ABCD1 | c.1865+1G>C (n.1865+1G>C) n.2337+1G>C | |
X | g.153743072G= | CA2466457555 | ABCD1 | c.1865+1G= (n.1865+1G=) n.2337+1G= | |
X | g.153743072G>T | CA415116413 | ABCD1 | c.1865+1G>T (n.1865+1G>T) n.2337+1G>T | |
X | g.153743073T>A | CA415116416 | ABCD1 | c.1865+2T>A (n.1865+2T>A) n.2337+2T>A | |
X | g.153743073T>C | CA415116418 | ABCD1 | c.1865+2T>C (n.1865+2T>C) n.2337+2T>C |