Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.76983329C>A | CA371556428 | PEX2 | c.850G>T (p.Gly284Cys) | |
8 | g.76983329C>G | CA371556429 | PEX2 | c.850G>C (p.Gly284Arg) | |
8 | g.76983329C>T | CA371556430 | PEX2 | c.850G>A (p.Gly284Ser) | gnomAD v4 |
8 | g.76983329_76983330delinsCA | CA1795350799 | PEX2 | c.849_850delinsTG (p.Cys283=) | |
8 | g.76983330del | CA4788641 | PEX2 | c.849del (p.Cys283TrpfsTer11) | dbSNP ExAC gnomAD v2 |
8 | g.76983330A>C | CA371556431 | PEX2 | c.849T>G (p.Cys283Trp) | |
8 | g.76983330A>G | CA461773133 | PEX2 | c.849T>C (p.Cys283=) | |
8 | g.76983330A>T | CA371556432 | PEX2 | c.849T>A (p.Cys283Ter) | |
8 | g.76983331C>A | CA371556433 | PEX2 | c.848G>T (p.Cys283Phe) | |
8 | g.76983331C>G | CA371556434 | PEX2 | c.848G>C (p.Cys283Ser) | |
8 | g.76983331C>T | CA371556435 | PEX2 | c.848G>A (p.Cys283Tyr) | |
8 | g.76983332A= | CA1795350805 | PEX2 | c.847T= (p.Cys283=) | |
8 | g.76983332A>C | CA179988254 | PEX2 | c.847T>G (p.Cys283Gly) | dbSNP |
8 | g.76983332A>G | CA371556437 | PEX2 | c.847T>C (p.Cys283Arg) | dbSNP |
8 | g.76983332A>T | CA371556436 | PEX2 | c.847T>A (p.Cys283Ser) | |
8 | g.76983333C>A | CA371556438 | PEX2 | c.846G>T (p.Lys282Asn) | |
8 | g.76983333C= | CA1795350808 | PEX2 | c.846G= (p.Lys282=) | |
8 | g.76983333C>G | CA371556439 | PEX2 | c.846G>C (p.Lys282Asn) | |
8 | g.76983333C>T | CA461773134 | PEX2 | c.846G>A (p.Lys282=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983334T>A | CA371556440 | PEX2 | c.845A>T (p.Lys282Met) | |
8 | g.76983334T>C | CA371556441 | PEX2 | c.845A>G (p.Lys282Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.76983334T>G | CA371556442 | PEX2 | c.845A>C (p.Lys282Thr) | |
8 | g.76983334T= | CA1795350812 | PEX2 | c.845A= (p.Lys282=) | |
8 | g.76983335T>A | CA371556445 | PEX2 | c.844A>T (p.Lys282Ter) | |
8 | g.76983335T>C | CA371556443 | PEX2 | c.844A>G (p.Lys282Glu) | dbSNP gnomAD v2 |
8 | g.76983335T>G | CA371556444 | PEX2 | c.844A>C (p.Lys282Gln) | dbSNP gnomAD v4 |
8 | g.76983335T= | CA1795350815 | PEX2 | c.844A= (p.Lys282=) | |
8 | g.76983336A= | CA1795350819 | PEX2 | c.843T= (p.Pro281=) | |
8 | g.76983336A>C | CA461773135 | PEX2 | c.843T>G (p.Pro281=) | |
8 | g.76983336A>G | CA461773136 | PEX2 | c.843T>C (p.Pro281=) | ClinVar dbSNP |
8 | g.76983336A>T | CA461773137 | PEX2 | c.843T>A (p.Pro281=) | |
8 | g.76983337G>A | CA4788642 | PEX2 | c.842C>T (p.Pro281Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.76983337G>C | CA371556446 | PEX2 | c.842C>G (p.Pro281Arg) | |
8 | g.76983337G= | CA1795350821 | PEX2 | c.842C= (p.Pro281=) | |
8 | g.76983337G>T | CA371556447 | PEX2 | c.842C>A (p.Pro281His) | |
8 | g.76983337_76983344del | CA2687718855 | PEX2 | c.835_842del (p.Thr279Ter) | gnomAD v4 |
8 | g.76983338G>A | CA371556448 | PEX2 | c.841C>T (p.Pro281Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.76983338G>C | CA371556449 | PEX2 | c.841C>G (p.Pro281Ala) | |
8 | g.76983338G= | CA1795350823 | PEX2 | c.841C= (p.Pro281=) | |
8 | g.76983338G>T | CA371556450 | PEX2 | c.841C>A (p.Pro281Thr) | |
8 | g.76983339A>C | CA371556451 | PEX2 | c.840T>G (p.Cys280Trp) | |
8 | g.76983339A>G | CA461773138 | PEX2 | c.840T>C (p.Cys280=) | |
8 | g.76983339A>T | CA371556452 | PEX2 | c.840T>A (p.Cys280Ter) | |
8 | g.76983340C>A | CA4788643 | PEX2 | c.839G>T (p.Cys280Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.76983340C= | CA1795350827 | PEX2 | c.839G= (p.Cys280=) | |
8 | g.76983340C>G | CA371556454 | PEX2 | c.839G>C (p.Cys280Ser) | |
8 | g.76983340C>T | CA371556453 | PEX2 | c.839G>A (p.Cys280Tyr) | |
8 | g.76983340_76983345delinsCAAGTA | CA1795350826 | PEX2 | c.834_839delinsTACTTG (p.Phe278=) | |
8 | g.76983341A>C | CA371556455 | PEX2 | c.838T>G (p.Cys280Gly) | |
8 | g.76983341A>G | CA371556456 | PEX2 | c.838T>C (p.Cys280Arg) |