Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
8 | g.76983341A>T | CA371556457 | PEX2 | c.838T>A (p.Cys280Ser) | |
8 | g.76983346_76983350del | CA16041186 | PEX2 | c.834_838del (p.Phe278LeufsTer3) | ClinVar dbSNP |
8 | g.76983342A>C | CA461773139 | PEX2 | c.837T>G (p.Thr279=) | |
8 | g.76983342A>G | CA461773141 | PEX2 | c.837T>C (p.Thr279=) | |
8 | g.76983342A>T | CA461773140 | PEX2 | c.837T>A (p.Thr279=) | |
8 | g.76983343G>A | CA371556458 | PEX2 | c.836C>T (p.Thr279Ile) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.76983343G>C | CA371556459 | PEX2 | c.836C>G (p.Thr279Ser) | |
8 | g.76983343G= | CA1795350832 | PEX2 | c.836C= (p.Thr279=) | |
8 | g.76983343G>T | CA371556460 | PEX2 | c.836C>A (p.Thr279Asn) | |
8 | g.76983344T>A | CA371556461 | PEX2 | c.835A>T (p.Thr279Ser) | |
8 | g.76983344T>C | CA371556462 | PEX2 | c.835A>G (p.Thr279Ala) | |
8 | g.76983344T>G | CA371556463 | PEX2 | c.835A>C (p.Thr279Pro) | |
8 | g.76983345A= | CA1795350835 | PEX2 | c.834T= (p.Phe278=) | |
8 | g.76983345A>C | CA371556464 | PEX2 | c.834T>G (p.Phe278Leu) | |
8 | g.76983345A>G | CA4788644 | PEX2 | c.834T>C (p.Phe278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |