Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.45910061G>A | CA2613277691 | PEX16 | c.*193C>T (n.*193C>T) c.*28C>T (n.*28C>T) | gnomAD v4 |
11 | g.45910061G>T | CA2613277693 | PEX16 | c.*193C>A (n.*193C>A) c.*28C>A (n.*28C>A) | gnomAD v4 |
11 | g.45910062C>A | CA2613277699 | PEX16 | c.*192G>T (n.*192G>T) c.*27G>T (n.*27G>T) | gnomAD v4 |
11 | g.45910062C>T | CA2574806377 | PEX16 | c.*192G>A (n.*192G>A) c.*27G>A (n.*27G>A) | gnomAD v4 |
11 | g.45910063A>C | CA2574806379 | PEX16 | c.*191T>G (n.*191T>G) c.*26T>G (n.*26T>G) | gnomAD v4 |
11 | g.45910064G>A | CA2574806382 | PEX16 | c.*190C>T (n.*190C>T) c.*25C>T (n.*25C>T) | |
11 | g.45910064G>T | CA2574806383 | PEX16 | c.*190C>A (n.*190C>A) c.*25C>A (n.*25C>A) | gnomAD v4 |
11 | g.45910065T>A | CA2613277709 | PEX16 | c.*189A>T (n.*189A>T) c.*24A>T (n.*24A>T) | gnomAD v4 |
11 | g.45910065T>C | CA937563434 | PEX16 | c.*189A>G (n.*189A>G) c.*24A>G (n.*24A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45910065T= | CA1968698128 | PEX16 | c.*189A= (n.*189A=) c.*24A= (n.*24A=) | |
11 | g.45910066G>A | CA599028307 | PEX16 | c.*188C>T (n.*188C>T) c.*23C>T (n.*23C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45910066G= | CA1968698129 | PEX16 | c.*188C= (n.*188C=) c.*23C= (n.*23C=) | |
11 | g.45910066G>T | CA2613277718 | PEX16 | c.*188C>A (n.*188C>A) c.*23C>A (n.*23C>A) | gnomAD v4 |
11 | g.45910067G>A | CA2613277723 | PEX16 | c.*187C>T (n.*187C>T) c.*22C>T (n.*22C>T) | gnomAD v4 |
11 | g.45910067G>T | CA2613277725 | PEX16 | c.*187C>A (n.*187C>A) c.*22C>A (n.*22C>A) | gnomAD v4 |
11 | g.45910070T>C | CA5959668 | PEX16 | c.*184A>G (n.*184A>G) c.*19A>G (n.*19A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910070T= | CA1968698130 | PEX16 | c.*184A= (n.*184A=) c.*19A= (n.*19A=) | |
11 | g.45910071C>A | CA2613277733 | PEX16 | c.*183G>T (n.*183G>T) c.*18G>T (n.*18G>T) | gnomAD v4 |
11 | g.45910071C= | CA1968698131 | PEX16 | c.*183G= (n.*183G=) c.*18G= (n.*18G=) | |
11 | g.45910071C>T | CA599028308 | PEX16 | c.*183G>A (n.*183G>A) c.*18G>A (n.*18G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45910072G>A | CA221583895 | PEX16 | c.*182C>T (n.*182C>T) c.*17C>T (n.*17C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45910072G= | CA1968698132 | PEX16 | c.*182C= (n.*182C=) c.*17C= (n.*17C=) | |
11 | g.45910072G>T | CA2613277742 | PEX16 | c.*182C>A (n.*182C>A) c.*17C>A (n.*17C>A) | gnomAD v4 |
11 | g.45910076C= | CA1968698133 | PEX16 | c.*178G= (n.*178G=) c.*13G= (n.*13G=) | |
11 | g.45910076C>G | CA1968698134 | PEX16 | c.*178G>C (n.*178G>C) c.*13G>C (n.*13G>C) | dbSNP |
11 | g.45910076C>T | CA2574806387 | PEX16 | c.*178G>A (n.*178G>A) c.*13G>A (n.*13G>A) | |
11 | g.45910079G>A | CA2723701898 | PEX16 | c.*175C>T (n.*175C>T) c.*10C>T (n.*10C>T) | dbSNP |
11 | g.45910079G= | CA1968698135 | PEX16 | c.*175C= (n.*175C=) c.*10C= (n.*10C=) | |
11 | g.45910079G>T | CA5959669 | PEX16 | c.*175C>A (n.*175C>A) c.*10C>A (n.*10C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910080dup | CA599028309 | PEX16 | c.*174dup (n.*174dup) c.*9dup (n.*9dup) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45910081G>A | CA5959670 | PEX16 | c.*173C>T (n.*173C>T) c.*8C>T (n.*8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910081G>C | CA5959671 | PEX16 | c.*173C>G (n.*173C>G) c.*8C>G (n.*8C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45910081G= | CA1968698136 | PEX16 | c.*173C= (n.*173C=) c.*8C= (n.*8C=) | |
11 | g.45910081G>T | CA2613277776 | PEX16 | c.*173C>A (n.*173C>A) c.*8C>A (n.*8C>A) | gnomAD v4 |
11 | g.45910082A= | CA1968698137 | PEX16 | c.*172T= (n.*172T=) c.*7T= (n.*7T=) | |
11 | g.45910082A>C | CA599028310 | PEX16 | c.*172T>G (n.*172T>G) c.*7T>G (n.*7T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910082A>G | CA2613277799 | PEX16 | c.*172T>C (n.*172T>C) c.*7T>C (n.*7T>C) | gnomAD v4 |
11 | g.45910083G>T | CA2613277801 | PEX16 | c.*171C>A (n.*171C>A) c.*6C>A (n.*6C>A) | gnomAD v4 |
11 | g.45910084C= | CA1968698138 | PEX16 | c.*170G= (n.*170G=) c.*5G= (n.*5G=) | |
11 | g.45910084C>T | CA5959672 | PEX16 | c.*170G>A (n.*170G>A) c.*5G>A (n.*5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910085G>A | CA5959673 | PEX16 | c.*169C>T (n.*169C>T) c.*4C>T (n.*4C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45910085G= | CA1968698139 | PEX16 | c.*169C= (n.*169C=) c.*4C= (n.*4C=) | |
11 | g.45910086C>A | CA2613277809 | PEX16 | c.*168G>T (n.*168G>T) c.*3G>T (n.*3G>T) | gnomAD v4 |
11 | g.45910088G>A | CA1968698141 | PEX16 | c.*166C>T (n.*166C>T) c.*1C>T (n.*1C>T) | dbSNP gnomAD v4 |
11 | g.45910088G>C | CA2613277815 | PEX16 | c.*166C>G (n.*166C>G) c.*1C>G (n.*1C>G) | gnomAD v4 |
11 | g.45910088G= | CA1968698140 | PEX16 | c.*166C= (n.*166C=) c.*1C= (n.*1C=) | |
11 | g.45910089T>A | CA380222599 | PEX16 | c.*165A>T (n.*165A>T) c.1041A>T (p.Ter347Cys) | gnomAD v4 |
11 | g.45910089T>C | CA380222601 | PEX16 | c.*165A>G (n.*165A>G) c.1041A>G (p.Ter347Trp) | |
11 | g.45910089T>G | CA380222603 | PEX16 | c.*165A>C (n.*165A>C) c.1041A>C (p.Ter347Cys) | |
11 | g.45910090C>A | CA380222608 | PEX16 | c.*164G>T (n.*164G>T) c.1040G>T (p.Ter347Leu) | |
11 | g.45910090C= | CA1968698142 | PEX16 | c.*164G= (n.*164G=) c.1040G= (p.Ter347=) | |
11 | g.45910090C>G | CA380222612 | PEX16 | c.*164G>C (n.*164G>C) c.1040G>C (p.Ter347Ser) | |
11 | g.45910090C>T | CA473860686 | PEX16 | c.*164G>A (n.*164G>A) c.1040G>A (p.Ter347=) | dbSNP |
11 | g.45910091A>C | CA380222614 | PEX16 | c.*163T>G (n.*163T>G) c.1039T>G (p.Ter347Gly) | |
11 | g.45910091A>G | CA380222618 | PEX16 | c.*163T>C (n.*163T>C) c.1039T>C (p.Ter347Arg) | |
11 | g.45910091A>T | CA380222620 | PEX16 | c.*163T>A (n.*163T>A) c.1039T>A (p.Ter347Arg) | |
11 | g.45910092A>C | CA473860687 | PEX16 | c.*162T>G (n.*162T>G) c.1038T>G (p.Pro346=) | |
11 | g.45910092A>G | CA473860688 | PEX16 | c.*162T>C (n.*162T>C) c.1038T>C (p.Pro346=) | |
11 | g.45910092A>T | CA473860689 | PEX16 | c.*162T>A (n.*162T>A) c.1038T>A (p.Pro346=) | |
11 | g.45910093G>A | CA380222627 | PEX16 | c.*161C>T (n.*161C>T) c.1037C>T (p.Pro346Leu) | |
11 | g.45910093G>C | CA380222628 | PEX16 | c.*161C>G (n.*161C>G) c.1037C>G (p.Pro346Arg) | |
11 | g.45910093G>T | CA380222630 | PEX16 | c.*161C>A (n.*161C>A) c.1037C>A (p.Pro346His) | gnomAD v4 |
11 | g.45910094G>A | CA380222635 | PEX16 | c.*160C>T (n.*160C>T) c.1036C>T (p.Pro346Ser) | gnomAD v4 |
11 | g.45910094G>C | CA380222633 | PEX16 | c.*160C>G (n.*160C>G) c.1036C>G (p.Pro346Ala) | |
11 | g.45910094G>T | CA380222634 | PEX16 | c.*160C>A (n.*160C>A) c.1036C>A (p.Pro346Thr) | gnomAD v4 |
11 | g.45910095G>A | CA5959674 | PEX16 | c.*159C>T (n.*159C>T) c.1035C>T (p.His345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910095G>C | CA380222637 | PEX16 | c.*159C>G (n.*159C>G) c.1035C>G (p.His345Gln) | |
11 | g.45910095G= | CA1968698143 | PEX16 | c.*159C= (n.*159C=) c.1035C= (p.His345=) | |
11 | g.45910095G>T | CA380222640 | PEX16 | c.*159C>A (n.*159C>A) c.1035C>A (p.His345Gln) | |
11 | g.45910096T>A | CA380222644 | PEX16 | c.*158A>T (n.*158A>T) c.1034A>T (p.His345Leu) | |
11 | g.45910096T>C | CA380222646 | PEX16 | c.*158A>G (n.*158A>G) c.1034A>G (p.His345Arg) | |
11 | g.45910096T>G | CA5959675 | PEX16 | c.*158A>C (n.*158A>C) c.1034A>C (p.His345Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910096T= | CA1968698144 | PEX16 | c.*158A= (n.*158A=) c.1034A= (p.His345=) | |
11 | g.45910097G>A | CA221583985 | PEX16 | c.*157C>T (n.*157C>T) c.1033C>T (p.His345Tyr) | dbSNP gnomAD v4 |
11 | g.45910097G>C | CA380222658 | PEX16 | c.*157C>G (n.*157C>G) c.1033C>G (p.His345Asp) | |
11 | g.45910097G= | CA1968698145 | PEX16 | c.*157C= (n.*157C=) c.1033C= (p.His345=) | |
11 | g.45910097G>T | CA380222660 | PEX16 | c.*157C>A (n.*157C>A) c.1033C>A (p.His345Asn) | gnomAD v4 |
11 | g.45910098T>A | CA473860691 | PEX16 | c.*156A>T (n.*156A>T) c.1032A>T (p.Gly344=) | gnomAD v4 |
11 | g.45910098T>C | CA221584004 | PEX16 | c.*156A>G (n.*156A>G) c.1032A>G (p.Gly344=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45910098T>G | CA473860692 | PEX16 | c.*156A>C (n.*156A>C) c.1032A>C (p.Gly344=) | |
11 | g.45910098T= | CA1968698146 | PEX16 | c.*156A= (n.*156A=) c.1032A= (p.Gly344=) | |
11 | g.45910099C>A | CA380222665 | PEX16 | c.*155G>T (n.*155G>T) c.1031G>T (p.Gly344Val) | |
11 | g.45910099C>G | CA380222668 | PEX16 | c.*155G>C (n.*155G>C) c.1031G>C (p.Gly344Ala) | |
11 | g.45910099C>T | CA380222675 | PEX16 | c.*155G>A (n.*155G>A) c.1031G>A (p.Gly344Glu) | |
11 | g.45910100C>A | CA380222682 | PEX16 | c.*154G>T (n.*154G>T) c.1030G>T (p.Gly344Ter) | |
11 | g.45910100C>G | CA380222680 | PEX16 | c.*154G>C (n.*154G>C) c.1030G>C (p.Gly344Arg) | |
11 | g.45910100C>T | CA380222678 | PEX16 | c.*154G>A (n.*154G>A) c.1030G>A (p.Gly344Arg) | |
11 | g.45910101T>A | CA473860693 | PEX16 | c.*153A>T (n.*153A>T) c.1029A>T (p.Pro343=) | |
11 | g.45910101T>C | CA473860694 | PEX16 | c.*153A>G (n.*153A>G) c.1029A>G (p.Pro343=) | |
11 | g.45910101T>G | CA473860695 | PEX16 | c.*153A>C (n.*153A>C) c.1029A>C (p.Pro343=) | dbSNP |
11 | g.45910101T= | CA1968698147 | PEX16 | c.*153A= (n.*153A=) c.1029A= (p.Pro343=) | |
11 | g.45910102G>A | CA380222685 | PEX16 | c.*152C>T (n.*152C>T) c.1028C>T (p.Pro343Leu) | dbSNP gnomAD v4 |
11 | g.45910102G>C | CA380222688 | PEX16 | c.*152C>G (n.*152C>G) c.1028C>G (p.Pro343Arg) | |
11 | g.45910102G= | CA1968698148 | PEX16 | c.*152C= (n.*152C=) c.1028C= (p.Pro343=) | |
11 | g.45910102G>T | CA380222691 | PEX16 | c.*152C>A (n.*152C>A) c.1028C>A (p.Pro343Gln) | |
11 | g.45910105_45910127dup | CA2613277870 | PEX16 | c.*130_*152dup (n.*130_*152dup) c.1006_1028dup (p.His345ArgfsTer16) | gnomAD v4 |
11 | g.45910103G>A | CA380222695 | PEX16 | c.*151C>T (n.*151C>T) c.1027C>T (p.Pro343Ser) | |
11 | g.45910103G>C | CA5959676 | PEX16 | c.*151C>G (n.*151C>G) c.1027C>G (p.Pro343Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.45910103G= | CA1968698149 | PEX16 | c.*151C= (n.*151C=) c.1027C= (p.Pro343=) | |
11 | g.45910103G>T | CA380222699 | PEX16 | c.*151C>A (n.*151C>A) c.1027C>A (p.Pro343Thr) | |
11 | g.45910104G>A | CA473860696 | PEX16 | c.*150C>T (n.*150C>T) c.1026C>T (p.Leu342=) | |
11 | g.45910104G>C | CA473860697 | PEX16 | c.*150C>G (n.*150C>G) c.1026C>G (p.Leu342=) | dbSNP |
11 | g.45910104G= | CA1968698150 | PEX16 | c.*150C= (n.*150C=) c.1026C= (p.Leu342=) | |
11 | g.45910104G>T | CA473860698 | PEX16 | c.*150C>A (n.*150C>A) c.1026C>A (p.Leu342=) | gnomAD v4 |
11 | g.45910105A>C | CA380222708 | PEX16 | c.*149T>G (n.*149T>G) c.1025T>G (p.Leu342Arg) | |
11 | g.45910105A>G | CA380222703 | PEX16 | c.*149T>C (n.*149T>C) c.1025T>C (p.Leu342Pro) | |
11 | g.45910105A>T | CA380222705 | PEX16 | c.*149T>A (n.*149T>A) c.1025T>A (p.Leu342His) | |
11 | g.45910106G>A | CA380222711 | PEX16 | c.*148C>T (n.*148C>T) c.1024C>T (p.Leu342Phe) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45910106G>C | CA380222713 | PEX16 | c.*148C>G (n.*148C>G) c.1024C>G (p.Leu342Val) | |
11 | g.45910106G= | CA1968698151 | PEX16 | c.*148C= (n.*148C=) c.1024C= (p.Leu342=) | |
11 | g.45910106G>T | CA380222715 | PEX16 | c.*148C>A (n.*148C>A) c.1024C>A (p.Leu342Ile) | |
11 | g.45910107G>A | CA473860699 | PEX16 | c.*147C>T (n.*147C>T) c.1023C>T (p.Phe341=) | |
11 | g.45910107G>C | CA380222718 | PEX16 | c.*147C>G (n.*147C>G) c.1023C>G (p.Phe341Leu) | dbSNP |
11 | g.45910107G= | CA1968698152 | PEX16 | c.*147C= (n.*147C=) c.1023C= (p.Phe341=) | |
11 | g.45910107G>T | CA380222720 | PEX16 | c.*147C>A (n.*147C>A) c.1023C>A (p.Phe341Leu) | |
11 | g.45910108A>C | CA380222728 | PEX16 | c.*146T>G (n.*146T>G) c.1022T>G (p.Phe341Cys) | |
11 | g.45910108A>G | CA380222723 | PEX16 | c.*146T>C (n.*146T>C) c.1022T>C (p.Phe341Ser) | |
11 | g.45910108A>T | CA380222726 | PEX16 | c.*146T>A (n.*146T>A) c.1022T>A (p.Phe341Tyr) | |
11 | g.45910109dup | CA676924572 | PEX16 | c.*146dup (n.*146dup) c.1022dup (p.Leu342ProfsTer?) | dbSNP |
11 | g.45910109A>C | CA380222729 | PEX16 | c.*145T>G (n.*145T>G) c.1021T>G (p.Phe341Val) | |
11 | g.45910109A>G | CA380222732 | PEX16 | c.*145T>C (n.*145T>C) c.1021T>C (p.Phe341Leu) | |
11 | g.45910109A>T | CA380222735 | PEX16 | c.*145T>A (n.*145T>A) c.1021T>A (p.Phe341Ile) | |
11 | g.45910110C>A | CA473860700 | PEX16 | c.*144G>T (n.*144G>T) c.1020G>T (p.Ala340=) | gnomAD v4 |
11 | g.45910110C= | CA1968698153 | PEX16 | c.*144G= (n.*144G=) c.1020G= (p.Ala340=) | |
11 | g.45910110C>G | CA473860701 | PEX16 | c.*144G>C (n.*144G>C) c.1020G>C (p.Ala340=) | gnomAD v4 |
11 | g.45910110C>T | CA5959677 | PEX16 | c.*144G>A (n.*144G>A) c.1020G>A (p.Ala340=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910111G>A | CA5959678 | PEX16 | c.*143C>T (n.*143C>T) c.1019C>T (p.Ala340Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910111G>C | CA380222739 | PEX16 | c.*143C>G (n.*143C>G) c.1019C>G (p.Ala340Gly) | |
11 | g.45910111G= | CA1968698154 | PEX16 | c.*143C= (n.*143C=) c.1019C= (p.Ala340=) | |
11 | g.45910111G>T | CA380222741 | PEX16 | c.*143C>A (n.*143C>A) c.1019C>A (p.Ala340Glu) | dbSNP gnomAD v4 |
11 | g.45910112C>A | CA380222744 | PEX16 | c.*142G>T (n.*142G>T) c.1018G>T (p.Ala340Ser) | |
11 | g.45910112C= | CA1968698155 | PEX16 | c.*142G= (n.*142G=) c.1018G= (p.Ala340=) | |
11 | g.45910112C>G | CA380222746 | PEX16 | c.*142G>C (n.*142G>C) c.1018G>C (p.Ala340Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45910112C>T | CA380222748 | PEX16 | c.*142G>A (n.*142G>A) c.1018G>A (p.Ala340Thr) | dbSNP gnomAD v4 |
11 | g.45910113T>A | CA473860705 | PEX16 | c.*141A>T (n.*141A>T) c.1017A>T (p.Pro339=) | |
11 | g.45910113T>C | CA473860706 | PEX16 | c.*141A>G (n.*141A>G) c.1017A>G (p.Pro339=) | |
11 | g.45910113T>G | CA473860707 | PEX16 | c.*141A>C (n.*141A>C) c.1017A>C (p.Pro339=) | |
11 | g.45910114G>A | CA380222751 | PEX16 | c.*140C>T (n.*140C>T) c.1016C>T (p.Pro339Leu) | |
11 | g.45910114G>C | CA380222753 | PEX16 | c.*140C>G (n.*140C>G) c.1016C>G (p.Pro339Arg) | |
11 | g.45910114G>T | CA380222755 | PEX16 | c.*140C>A (n.*140C>A) c.1016C>A (p.Pro339Gln) | |
11 | g.45910115G>A | CA380222758 | PEX16 | c.*139C>T (n.*139C>T) c.1015C>T (p.Pro339Ser) | |
11 | g.45910115G>C | CA380222762 | PEX16 | c.*139C>G (n.*139C>G) c.1015C>G (p.Pro339Ala) | |
11 | g.45910115G= | CA1968698156 | PEX16 | c.*139C= (n.*139C=) c.1015C= (p.Pro339=) | |
11 | g.45910115G>T | CA380222760 | PEX16 | c.*139C>A (n.*139C>A) c.1015C>A (p.Pro339Thr) | |
11 | g.45910116T>A | CA473860710 | PEX16 | c.*138A>T (n.*138A>T) c.1014A>T (p.Pro338=) | |
11 | g.45910116T>C | CA473860708 | PEX16 | c.*138A>G (n.*138A>G) c.1014A>G (p.Pro338=) | |
11 | g.45910116T>G | CA473860709 | PEX16 | c.*138A>C (n.*138A>C) c.1014A>C (p.Pro338=) | |
11 | g.45910116dup | CA5959679 | PEX16 | c.*138dup (n.*138dup) c.1014dup (p.Pro339ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910117G>A | CA5959680 | PEX16 | c.*137C>T (n.*137C>T) c.1013C>T (p.Pro338Leu) | dbSNP ExAC gnomAD v2 |
11 | g.45910117G>C | CA380222768 | PEX16 | c.*137C>G (n.*137C>G) c.1013C>G (p.Pro338Arg) | |
11 | g.45910117G= | CA1968698157 | PEX16 | c.*137C= (n.*137C=) c.1013C= (p.Pro338=) | |
11 | g.45910117G>T | CA380222771 | PEX16 | c.*137C>A (n.*137C>A) c.1013C>A (p.Pro338Gln) | |
11 | g.45910118G>A | CA380222774 | PEX16 | c.*136C>T (n.*136C>T) c.1012C>T (p.Pro338Ser) | |
11 | g.45910118G>C | CA380222775 | PEX16 | c.*136C>G (n.*136C>G) c.1012C>G (p.Pro338Ala) | |
11 | g.45910118G>T | CA380222777 | PEX16 | c.*136C>A (n.*136C>A) c.1012C>A (p.Pro338Thr) | |
11 | g.45910119C>A | CA473860711 | PEX16 | c.*135G>T (n.*135G>T) c.1011G>T (p.Ser337=) | |
11 | g.45910119C= | CA1968698158 | PEX16 | c.*135G= (n.*135G=) c.1011G= (p.Ser337=) | |
11 | g.45910119C>G | CA473860712 | PEX16 | c.*135G>C (n.*135G>C) c.1011G>C (p.Ser337=) | |
11 | g.45910119C>T | CA5959681 | PEX16 | c.*135G>A (n.*135G>A) c.1011G>A (p.Ser337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910120G>A | CA5959682 | PEX16 | c.*134C>T (n.*134C>T) c.1010C>T (p.Ser337Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910120G>C | CA380222783 | PEX16 | c.*134C>G (n.*134C>G) c.1010C>G (p.Ser337Trp) | |
11 | g.45910120G= | CA1968698159 | PEX16 | c.*134C= (n.*134C=) c.1010C= (p.Ser337=) | |
11 | g.45910120G>T | CA380222785 | PEX16 | c.*134C>A (n.*134C>A) c.1010C>A (p.Ser337Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910121A= | CA1968698160 | PEX16 | c.*133T= (n.*133T=) c.1009T= (p.Ser337=) | |
11 | g.45910121A>C | CA380222792 | PEX16 | c.*133T>G (n.*133T>G) c.1009T>G (p.Ser337Ala) | |
11 | g.45910121A>G | CA380222791 | PEX16 | c.*133T>C (n.*133T>C) c.1009T>C (p.Ser337Pro) | dbSNP |
11 | g.45910121A>T | CA380222789 | PEX16 | c.*133T>A (n.*133T>A) c.1009T>A (p.Ser337Thr) | |
11 | g.45910122C>A | CA380222793 | PEX16 | c.*132G>T (n.*132G>T) c.1008G>T (p.Trp336Cys) | dbSNP |
11 | g.45910122C= | CA1968698161 | PEX16 | c.*132G= (n.*132G=) c.1008G= (p.Trp336=) | |
11 | g.45910122C>G | CA380222794 | PEX16 | c.*132G>C (n.*132G>C) c.1008G>C (p.Trp336Cys) | |
11 | g.45910122C>T | CA380222795 | PEX16 | c.*132G>A (n.*132G>A) c.1008G>A (p.Trp336Ter) | |
11 | g.45910123del | CA2574806413 | PEX16 | c.*132del (n.*132del) c.1008del (p.Trp336CysfsTer17) | |
11 | g.45910123C>A | CA380222796 | PEX16 | c.*131G>T (n.*131G>T) c.1007G>T (p.Trp336Leu) | |
11 | g.45910123C= | CA1968698162 | PEX16 | c.*131G= (n.*131G=) c.1007G= (p.Trp336=) | |
11 | g.45910123C>G | CA380222797 | PEX16 | c.*131G>C (n.*131G>C) c.1007G>C (p.Trp336Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45910123C>T | CA380222798 | PEX16 | c.*131G>A (n.*131G>A) c.1007G>A (p.Trp336Ter) | |
11 | g.45910124A= | CA1968698163 | PEX16 | c.*130T= (n.*130T=) c.1006T= (p.Trp336=) | |
11 | g.45910124A>C | CA380222799 | PEX16 | c.*130T>G (n.*130T>G) c.1006T>G (p.Trp336Gly) | |
11 | g.45910124A>G | CA380222800 | PEX16 | c.*130T>C (n.*130T>C) c.1006T>C (p.Trp336Arg) | |
11 | g.45910124A>T | CA5959683 | PEX16 | c.*130T>A (n.*130T>A) c.1006T>A (p.Trp336Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910125G>A | CA473860713 | PEX16 | c.*129C>T (n.*129C>T) c.1005C>T (p.Pro335=) | |
11 | g.45910125G>C | CA473860714 | PEX16 | c.*129C>G (n.*129C>G) c.1005C>G (p.Pro335=) | |
11 | g.45910125G>T | CA473860715 | PEX16 | c.*129C>A (n.*129C>A) c.1005C>A (p.Pro335=) | |
11 | g.45910126G>A | CA380222801 | PEX16 | c.*128C>T (n.*128C>T) c.1004C>T (p.Pro335Leu) | |
11 | g.45910126G>C | CA380222802 | PEX16 | c.*128C>G (n.*128C>G) c.1004C>G (p.Pro335Arg) | |
11 | g.45910126G>T | CA380222803 | PEX16 | c.*128C>A (n.*128C>A) c.1004C>A (p.Pro335His) | |
11 | g.45910127G>A | CA380222806 | PEX16 | c.*127C>T (n.*127C>T) c.1003C>T (p.Pro335Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910127G>C | CA380222805 | PEX16 | c.*127C>G (n.*127C>G) c.1003C>G (p.Pro335Ala) | |
11 | g.45910127G= | CA1968698164 | PEX16 | c.*127C= (n.*127C=) c.1003C= (p.Pro335=) | |
11 | g.45910127G>T | CA380222804 | PEX16 | c.*127C>A (n.*127C>A) c.1003C>A (p.Pro335Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45910128C>A | CA380222807 | PEX16 | c.*126G>T (n.*126G>T) c.1002G>T (p.Gln334His) | |
11 | g.45910128C>G | CA380222809 | PEX16 | c.*126G>C (n.*126G>C) c.1002G>C (p.Gln334His) | |
11 | g.45910128C>T | CA473860716 | PEX16 | c.*126G>A (n.*126G>A) c.1002G>A (p.Gln334=) | |
11 | g.45910129T>A | CA380222812 | PEX16 | c.*125A>T (n.*125A>T) c.1001A>T (p.Gln334Leu) | |
11 | g.45910129T>C | CA380222817 | PEX16 | c.*125A>G (n.*125A>G) c.1001A>G (p.Gln334Arg) | dbSNP gnomAD v4 |
11 | g.45910129T>G | CA380222814 | PEX16 | c.*125A>C (n.*125A>C) c.1001A>C (p.Gln334Pro) | |
11 | g.45910129T= | CA1968698165 | PEX16 | c.*125A= (n.*125A=) c.1001A= (p.Gln334=) | |
11 | g.45910135_45910136del | CA2613277959 | PEX16 | c.*124_*125del (n.*124_*125del) c.1000_1001del (p.Gln334AlafsTer?) | gnomAD v4 |
11 | g.45910130G>A | CA380222820 | PEX16 | c.*124C>T (n.*124C>T) c.1000C>T (p.Gln334Ter) | dbSNP gnomAD v4 |
11 | g.45910130G>C | CA380222822 | PEX16 | c.*124C>G (n.*124C>G) c.1000C>G (p.Gln334Glu) | |
11 | g.45910130G= | CA1968698166 | PEX16 | c.*124C= (n.*124C=) c.1000C= (p.Gln334=) | |
11 | g.45910130G>T | CA380222824 | PEX16 | c.*124C>A (n.*124C>A) c.1000C>A (p.Gln334Lys) | |
11 | g.45910131T>A | CA473860717 | PEX16 | c.*123A>T (n.*123A>T) c.999A>T (p.Thr333=) | |
11 | g.45910131T>C | CA5959684 | PEX16 | c.*123A>G (n.*123A>G) c.999A>G (p.Thr333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910131T>G | CA473860718 | PEX16 | c.*123A>C (n.*123A>C) c.999A>C (p.Thr333=) | |
11 | g.45910131T= | CA1968698167 | PEX16 | c.*123A= (n.*123A=) c.999A= (p.Thr333=) | |
11 | g.45910132G>A | CA380222830 | PEX16 | c.*122C>T (n.*122C>T) c.998C>T (p.Thr333Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910132G>C | CA380222834 | PEX16 | c.*122C>G (n.*122C>G) c.998C>G (p.Thr333Arg) | COSMIC |
11 | g.45910132G= | CA1968698168 | PEX16 | c.*122C= (n.*122C=) c.998C= (p.Thr333=) | |
11 | g.45910132G>T | CA380222836 | PEX16 | c.*122C>A (n.*122C>A) c.998C>A (p.Thr333Lys) | |
11 | g.45910132dup | CA5959685 | PEX16 | c.*122dup (n.*122dup) c.998dup (p.Gln334ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45910133T>A | CA380222839 | PEX16 | c.*121A>T (n.*121A>T) c.997A>T (p.Thr333Ser) | |
11 | g.45910133T>C | CA380222841 | PEX16 | c.*121A>G (n.*121A>G) c.997A>G (p.Thr333Ala) | dbSNP gnomAD v2 |
11 | g.45910133T>G | CA380222843 | PEX16 | c.*121A>C (n.*121A>C) c.997A>C (p.Thr333Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45910133T= | CA1968698169 | PEX16 | c.*121A= (n.*121A=) c.997A= (p.Thr333=) | |
11 | g.45910134G>A | CA473860719 | PEX16 | c.*120C>T (n.*120C>T) c.996C>T (p.His332=) | |
11 | g.45910134G>C | CA380222849 | PEX16 | c.*120C>G (n.*120C>G) c.996C>G (p.His332Gln) | |
11 | g.45910134G>T | CA380222847 | PEX16 | c.*120C>A (n.*120C>A) c.996C>A (p.His332Gln) | |
11 | g.45910135T>A | CA380222852 | PEX16 | c.*119A>T (n.*119A>T) c.995A>T (p.His332Leu) | |
11 | g.45910135T>C | CA380222854 | PEX16 | c.*119A>G (n.*119A>G) c.995A>G (p.His332Arg) | COSMIC |
11 | g.45910135T>G | CA380222856 | PEX16 | c.*119A>C (n.*119A>C) c.995A>C (p.His332Pro) | |
11 | g.45910136G>A | CA380222859 | PEX16 | c.*118C>T (n.*118C>T) c.994C>T (p.His332Tyr) | |
11 | g.45910136G>C | CA380222861 | PEX16 | c.*118C>G (n.*118C>G) c.994C>G (p.His332Asp) | |
11 | g.45910136G>T | CA380222863 | PEX16 | c.*118C>A (n.*118C>A) c.994C>A (p.His332Asn) | |
11 | g.45910137G>A | CA473860720 | PEX16 | c.*117C>T (n.*117C>T) c.993C>T (p.Pro331=) | gnomAD v4 |
11 | g.45910137G>C | CA473860721 | PEX16 | c.*117C>G (n.*117C>G) c.993C>G (p.Pro331=) | |
11 | g.45910137G>T | CA473860722 | PEX16 | c.*117C>A (n.*117C>A) c.993C>A (p.Pro331=) | |
11 | g.45910138G>A | CA380222866 | PEX16 | c.*116C>T (n.*116C>T) c.992C>T (p.Pro331Leu) | |
11 | g.45910138G>C | CA380222868 | PEX16 | c.*116C>G (n.*116C>G) c.992C>G (p.Pro331Arg) | |
11 | g.45910138G>T | CA380222870 | PEX16 | c.*116C>A (n.*116C>A) c.992C>A (p.Pro331His) | |
11 | g.45910139G>A | CA5959686 | PEX16 | c.*115C>T (n.*115C>T) c.991C>T (p.Pro331Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910139G>C | CA380222875 | PEX16 | c.*115C>G (n.*115C>G) c.991C>G (p.Pro331Ala) | |
11 | g.45910139G= | CA1968698170 | PEX16 | c.*115C= (n.*115C=) c.991C= (p.Pro331=) | |
11 | g.45910139G>T | CA380222877 | PEX16 | c.*115C>A (n.*115C>A) c.991C>A (p.Pro331Thr) | COSMIC |
11 | g.45910140C>A | CA380222881 | PEX16 | c.*114G>T (n.*114G>T) c.990G>T (p.Arg330Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45910140C= | CA1968698171 | PEX16 | c.*114G= (n.*114G=) c.990G= (p.Arg330=) | |
11 | g.45910140C>G | CA380222883 | PEX16 | c.*114G>C (n.*114G>C) c.990G>C (p.Arg330Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45910140C>T | CA5959687 | PEX16 | c.*114G>A (n.*114G>A) c.990G>A (p.Arg330=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910140_45910149del | CA2791291408 | PEX16 | c.*105_*114del (n.*105_*114del) c.981_990del (p.Ala329ThrfsTer21) | |
11 | g.45910141C>A | CA380222886 | PEX16 | c.*113G>T (n.*113G>T) c.989G>T (p.Arg330Met) | |
11 | g.45910141C>G | CA380222888 | PEX16 | c.*113G>C (n.*113G>C) c.989G>C (p.Arg330Thr) | |
11 | g.45910141C>T | CA380222890 | PEX16 | c.*113G>A (n.*113G>A) c.989G>A (p.Arg330Lys) | |
11 | g.45910142T>A | CA380222892 | PEX16 | c.*112A>T (n.*112A>T) c.988A>T (p.Arg330Trp) | |
11 | g.45910142T>C | CA380222894 | PEX16 | c.*112A>G (n.*112A>G) c.988A>G (p.Arg330Gly) | dbSNP gnomAD v4 |
11 | g.45910142T>G | CA473860723 | PEX16 | c.*112A>C (n.*112A>C) c.988A>C (p.Arg330=) | |
11 | g.45910142T= | CA1968698172 | PEX16 | c.*112A= (n.*112A=) c.988A= (p.Arg330=) | |
11 | g.45910143G>A | CA473860726 | PEX16 | c.*111C>T (n.*111C>T) c.987C>T (p.Ala329=) | |
11 | g.45910143G>C | CA473860725 | PEX16 | c.*111C>G (n.*111C>G) c.987C>G (p.Ala329=) | |
11 | g.45910143G>T | CA473860724 | PEX16 | c.*111C>A (n.*111C>A) c.987C>A (p.Ala329=) | |
11 | g.45910144G>A | CA380222901 | PEX16 | c.*110C>T (n.*110C>T) c.986C>T (p.Ala329Val) | |
11 | g.45910144G>C | CA380222899 | PEX16 | c.*110C>G (n.*110C>G) c.986C>G (p.Ala329Gly) | |
11 | g.45910144G>T | CA380222897 | PEX16 | c.*110C>A (n.*110C>A) c.986C>A (p.Ala329Asp) | |
11 | g.45910145C>A | CA380222905 | PEX16 | c.*109G>T (n.*109G>T) c.985G>T (p.Ala329Ser) | |
11 | g.45910145C= | CA1968698173 | PEX16 | c.*109G= (n.*109G=) c.985G= (p.Ala329=) | |
11 | g.45910145C>G | CA380222907 | PEX16 | c.*109G>C (n.*109G>C) c.985G>C (p.Ala329Pro) | |
11 | g.45910145C>T | CA380222909 | PEX16 | c.*109G>A (n.*109G>A) c.985G>A (p.Ala329Thr) | dbSNP gnomAD v4 COSMIC |
11 | g.45910146C>A | CA473860727 | PEX16 | c.*108G>T (n.*108G>T) c.984G>T (p.Pro328=) | |
11 | g.45910146C= | CA1968698174 | PEX16 | c.*108G= (n.*108G=) c.984G= (p.Pro328=) | |
11 | g.45910146C>G | CA473860728 | PEX16 | c.*108G>C (n.*108G>C) c.984G>C (p.Pro328=) | |
11 | g.45910146C>T | CA473860729 | PEX16 | c.*108G>A (n.*108G>A) c.984G>A (p.Pro328=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45910147G>A | CA5959688 | PEX16 | c.*107C>T (n.*107C>T) c.983C>T (p.Pro328Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910147G>C | CA380222913 | PEX16 | c.*107C>G (n.*107C>G) c.983C>G (p.Pro328Arg) | |
11 | g.45910147G= | CA1968698175 | PEX16 | c.*107C= (n.*107C=) c.983C= (p.Pro328=) | |
11 | g.45910147G>T | CA380222916 | PEX16 | c.*107C>A (n.*107C>A) c.983C>A (p.Pro328Gln) | |
11 | g.45910148G>A | CA380222919 | PEX16 | c.*106C>T (n.*106C>T) c.982C>T (p.Pro328Ser) | dbSNP gnomAD v2 |
11 | g.45910148G>C | CA221584061 | PEX16 | c.*106C>G (n.*106C>G) c.982C>G (p.Pro328Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45910148G= | CA1968698176 | PEX16 | c.*106C= (n.*106C=) c.982C= (p.Pro328=) | |
11 | g.45910148G>T | CA380222922 | PEX16 | c.*106C>A (n.*106C>A) c.982C>A (p.Pro328Thr) | |
11 | g.45910149T>A | CA473860732 | PEX16 | c.*105A>T (n.*105A>T) c.981A>T (p.Leu327=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45910149T>C | CA473860730 | PEX16 | c.*105A>G (n.*105A>G) c.981A>G (p.Leu327=) | gnomAD v4 |
11 | g.45910149T>G | CA473860731 | PEX16 | c.*105A>C (n.*105A>C) c.981A>C (p.Leu327=) | |
11 | g.45910149T= | CA1968698177 | PEX16 | c.*105A= (n.*105A=) c.981A= (p.Leu327=) | |
11 | g.45910150A>C | CA380222928 | PEX16 | c.*104T>G (n.*104T>G) c.980T>G (p.Leu327Arg) | |
11 | g.45910150A>G | CA380222931 | PEX16 | c.*104T>C (n.*104T>C) c.980T>C (p.Leu327Pro) | |
11 | g.45910150A>T | CA380222933 | PEX16 | c.*104T>A (n.*104T>A) c.980T>A (p.Leu327Gln) | |
11 | g.45910150dup | CA5959689 | PEX16 | c.*104dup (n.*104dup) c.980dup (p.Pro328ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910150_45910151delinsAG | CA1968698178 | PEX16 | c.*103_*104delinsCT (n.*103_*104delinsCT) c.979_980delinsCT (p.Leu327=) | |
11 | g.45910151G>A | CA473860733 | PEX16 | c.*103C>T (n.*103C>T) c.979C>T (p.Leu327=) | gnomAD v4 |
11 | g.45910151G>C | CA380222936 | PEX16 | c.*103C>G (n.*103C>G) c.979C>G (p.Leu327Val) | |
11 | g.45910151G>T | CA380222937 | PEX16 | c.*103C>A (n.*103C>A) c.979C>A (p.Leu327Ile) | |
11 | g.45910152del | CA1968698179 | PEX16 | c.*103del (n.*103del) c.979del (p.Leu327TyrfsTer26) | dbSNP |
11 | g.45910152G>A | CA473860734 | PEX16 | c.*102C>T (n.*102C>T) c.978C>T (p.Cys326=) | |
11 | g.45910152G>C | CA380222941 | PEX16 | c.*102C>G (n.*102C>G) c.978C>G (p.Cys326Trp) | |
11 | g.45910152G>T | CA380222942 | PEX16 | c.*102C>A (n.*102C>A) c.978C>A (p.Cys326Ter) | |
11 | g.45910153C>A | CA380222945 | PEX16 | c.*101G>T (n.*101G>T) c.977G>T (p.Cys326Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45910153C= | CA1968698180 | PEX16 | c.*101G= (n.*101G=) c.977G= (p.Cys326=) | |
11 | g.45910153C>G | CA380222946 | PEX16 | c.*101G>C (n.*101G>C) c.977G>C (p.Cys326Ser) | |
11 | g.45910153C>T | CA380222948 | PEX16 | c.*101G>A (n.*101G>A) c.977G>A (p.Cys326Tyr) | |
11 | g.45910154A>C | CA380222956 | PEX16 | c.*100T>G (n.*100T>G) c.976T>G (p.Cys326Gly) | |
11 | g.45910154A>G | CA380222954 | PEX16 | c.*100T>C (n.*100T>C) c.976T>C (p.Cys326Arg) | |
11 | g.45910154A>T | CA380222952 | PEX16 | c.*100T>A (n.*100T>A) c.976T>A (p.Cys326Ser) | |
11 | g.45910155C>A | CA473860735 | PEX16 | c.*99G>T (n.*99G>T) c.975G>T (p.Pro325=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45910155C= | CA1968698181 | PEX16 | c.*99G= (n.*99G=) c.975G= (p.Pro325=) | |
11 | g.45910155C>G | CA473860736 | PEX16 | c.*99G>C (n.*99G>C) c.975G>C (p.Pro325=) | |
11 | g.45910155C>T | CA473860737 | PEX16 | c.*99G>A (n.*99G>A) c.975G>A (p.Pro325=) | dbSNP gnomAD v4 |
11 | g.45910156G>A | CA5959690 | PEX16 | c.*98C>T (n.*98C>T) c.974C>T (p.Pro325Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45910156G>C | CA380222962 | PEX16 | c.*98C>G (n.*98C>G) c.974C>G (p.Pro325Arg) | gnomAD v4 |
11 | g.45910156G= | CA1968698182 | PEX16 | c.*98C= (n.*98C=) c.974C= (p.Pro325=) | |
11 | g.45910156G>T | CA380222960 | PEX16 | c.*98C>A (n.*98C>A) c.974C>A (p.Pro325Gln) | |
11 | g.45910157G>A | CA380222964 | PEX16 | c.*97C>T (n.*97C>T) c.973C>T (p.Pro325Ser) | |
11 | g.45910157G>C | CA380222965 | PEX16 | c.*97C>G (n.*97C>G) c.973C>G (p.Pro325Ala) | |
11 | g.45910157G>T | CA380222968 | PEX16 | c.*97C>A (n.*97C>A) c.973C>A (p.Pro325Thr) | |
11 | g.45910158A>C | CA473860740 | PEX16 | c.*96T>G (n.*96T>G) c.972T>G (p.Ser324=) | |
11 | g.45910158A>G | CA473860738 | PEX16 | c.*96T>C (n.*96T>C) c.972T>C (p.Ser324=) | |
11 | g.45910158A>T | CA473860739 | PEX16 | c.*96T>A (n.*96T>A) c.972T>A (p.Ser324=) | |
11 | g.45910159G>A | CA380222971 | PEX16 | c.*95C>T (n.*95C>T) c.971C>T (p.Ser324Phe) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45910159G>C | CA380222973 | PEX16 | c.*95C>G (n.*95C>G) c.971C>G (p.Ser324Cys) | |
11 | g.45910159G= | CA1968698183 | PEX16 | c.*95C= (n.*95C=) c.971C= (p.Ser324=) | |
11 | g.45910159G>T | CA380222975 | PEX16 | c.*95C>A (n.*95C>A) c.971C>A (p.Ser324Tyr) | |
11 | g.45910160A>C | CA380222979 | PEX16 | c.*94T>G (n.*94T>G) c.970T>G (p.Ser324Ala) | |
11 | g.45910160A>G | CA380222981 | PEX16 | c.*94T>C (n.*94T>C) c.970T>C (p.Ser324Pro) | |
11 | g.45910160A>T | CA380222984 | PEX16 | c.*94T>A (n.*94T>A) c.970T>A (p.Ser324Thr) | |
11 | g.45910161G>A | CA473860741 | PEX16 | c.*93C>T (n.*93C>T) c.969C>T (p.Ala323=) | |
11 | g.45910161G>C | CA473860742 | PEX16 | c.*93C>G (n.*93C>G) c.969C>G (p.Ala323=) | |
11 | g.45910161G>T | CA473860743 | PEX16 | c.*93C>A (n.*93C>A) c.969C>A (p.Ala323=) |