Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.76983337_76983344del | CA2687718855 | PEX2 | c.835_842del (p.Thr279Ter) | gnomAD v4 |
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 |
8 | g.76983345A>T | CA371556465 | PEX2 | c.834T>A (p.Phe278Leu) | |
8 | g.76983346A>C | CA371556468 | PEX2 | c.833T>G (p.Phe278Cys) | |
8 | g.76983346A>G | CA371556467 | PEX2 | c.833T>C (p.Phe278Ser) | |
8 | g.76983346A>T | CA371556466 | PEX2 | c.833T>A (p.Phe278Tyr) | |
8 | g.76983347_76983350dup | CA918294494 | PEX2 | c.830_833dup (p.Phe278LeufsTer6) | dbSNP |
8 | g.76983347A>C | CA371556469 | PEX2 | c.832T>G (p.Phe278Val) | |
8 | g.76983347A>G | CA371556470 | PEX2 | c.832T>C (p.Phe278Leu) | |
8 | g.76983347A>T | CA371556471 | PEX2 | c.832T>A (p.Phe278Ile) | |
8 | g.76983348G>A | CA461773142 | PEX2 | c.831C>T (p.Tyr277=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.76983348G>C | CA371556472 | PEX2 | c.831C>G (p.Tyr277Ter) | |
8 | g.76983348G= | CA1795350838 | PEX2 | c.831C= (p.Tyr277=) | |
8 | g.76983348G>T | CA371556473 | PEX2 | c.831C>A (p.Tyr277Ter) | |
8 | g.76983348delinsTAAGAAAC | CA2695201487 | PEX2 | c.831delinsGTTTCTTA (p.Tyr277Ter) | ClinVar |
8 | g.76983349T>A | CA371556474 | PEX2 | c.830A>T (p.Tyr277Phe) | |
8 | g.76983349T>C | CA371556475 | PEX2 | c.830A>G (p.Tyr277Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.76983349T>G | CA371556476 | PEX2 | c.830A>C (p.Tyr277Ser) | gnomAD v4 |
8 | g.76983349T= | CA1795350840 | PEX2 | c.830A= (p.Tyr277=) | |
8 | g.76983350A>C | CA371556477 | PEX2 | c.829T>G (p.Tyr277Asp) | gnomAD v4 |
8 | g.76983350A>G | CA371556478 | PEX2 | c.829T>C (p.Tyr277His) | |
8 | g.76983350A>T | CA371556479 | PEX2 | c.829T>A (p.Tyr277Asn) | |
8 | g.76983351C>A | CA461773143 | PEX2 | c.828G>T (p.Val276=) | |
8 | g.76983351C>G | CA461773144 | PEX2 | c.828G>C (p.Val276=) | |
8 | g.76983351C>T | CA461773145 | PEX2 | c.828G>A (p.Val276=) | ClinVar |
8 | g.76983352A= | CA1795350842 | PEX2 | c.827T= (p.Val276=) | |
8 | g.76983352A>C | CA371556482 | PEX2 | c.827T>G (p.Val276Gly) | |
8 | g.76983352A>G | CA371556481 | PEX2 | c.827T>C (p.Val276Ala) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.76983352A>T | CA371556480 | PEX2 | c.827T>A (p.Val276Glu) | |
8 | g.76983353C>A | CA371556483 | PEX2 | c.826G>T (p.Val276Leu) | |
8 | g.76983353C= | CA1795350848 | PEX2 | c.826G= (p.Val276=) | |
8 | g.76983353C>G | CA4788645 | PEX2 | c.826G>C (p.Val276Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983353C>T | CA4788646 | PEX2 | c.826G>A (p.Val276Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |