Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.45910061G>ACA2613277691PEX16c.*193C>T (n.*193C>T)
c.*28C>T (n.*28C>T)
gnomAD v4
11g.45910061G>TCA2613277693PEX16c.*193C>A (n.*193C>A)
c.*28C>A (n.*28C>A)
gnomAD v4
11g.45910062C>ACA2613277699PEX16c.*192G>T (n.*192G>T)
c.*27G>T (n.*27G>T)
gnomAD v4
11g.45910062C>TCA2574806377PEX16c.*192G>A (n.*192G>A)
c.*27G>A (n.*27G>A)
gnomAD v4
11g.45910063A>CCA2574806379PEX16c.*191T>G (n.*191T>G)
c.*26T>G (n.*26T>G)
gnomAD v4
11g.45910064G>ACA2574806382PEX16c.*190C>T (n.*190C>T)
c.*25C>T (n.*25C>T)
11g.45910064G>TCA2574806383PEX16c.*190C>A (n.*190C>A)
c.*25C>A (n.*25C>A)
gnomAD v4
11g.45910065T>ACA2613277709PEX16c.*189A>T (n.*189A>T)
c.*24A>T (n.*24A>T)
gnomAD v4
11g.45910065T>CCA937563434PEX16c.*189A>G (n.*189A>G)
c.*24A>G (n.*24A>G)
dbSNP gnomAD v3 gnomAD v4
11g.45910065T=CA1968698128PEX16c.*189A= (n.*189A=)
c.*24A= (n.*24A=)
11g.45910066G>ACA599028307PEX16c.*188C>T (n.*188C>T)
c.*23C>T (n.*23C>T)
dbSNP gnomAD v2 gnomAD v4
11g.45910066G=CA1968698129PEX16c.*188C= (n.*188C=)
c.*23C= (n.*23C=)
11g.45910066G>TCA2613277718PEX16c.*188C>A (n.*188C>A)
c.*23C>A (n.*23C>A)
gnomAD v4
11g.45910067G>ACA2613277723PEX16c.*187C>T (n.*187C>T)
c.*22C>T (n.*22C>T)
gnomAD v4
11g.45910067G>TCA2613277725PEX16c.*187C>A (n.*187C>A)
c.*22C>A (n.*22C>A)
gnomAD v4
11g.45910070T>CCA5959668PEX16c.*184A>G (n.*184A>G)
c.*19A>G (n.*19A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910070T=CA1968698130PEX16c.*184A= (n.*184A=)
c.*19A= (n.*19A=)
11g.45910071C>ACA2613277733PEX16c.*183G>T (n.*183G>T)
c.*18G>T (n.*18G>T)
gnomAD v4
11g.45910071C=CA1968698131PEX16c.*183G= (n.*183G=)
c.*18G= (n.*18G=)
11g.45910071C>TCA599028308PEX16c.*183G>A (n.*183G>A)
c.*18G>A (n.*18G>A)
dbSNP gnomAD v2 gnomAD v4
11g.45910072G>ACA221583895PEX16c.*182C>T (n.*182C>T)
c.*17C>T (n.*17C>T)
dbSNP gnomAD v2 gnomAD v4
11g.45910072G=CA1968698132PEX16c.*182C= (n.*182C=)
c.*17C= (n.*17C=)
11g.45910072G>TCA2613277742PEX16c.*182C>A (n.*182C>A)
c.*17C>A (n.*17C>A)
gnomAD v4
11g.45910076C=CA1968698133PEX16c.*178G= (n.*178G=)
c.*13G= (n.*13G=)
11g.45910076C>GCA1968698134PEX16c.*178G>C (n.*178G>C)
c.*13G>C (n.*13G>C)
dbSNP
11g.45910076C>TCA2574806387PEX16c.*178G>A (n.*178G>A)
c.*13G>A (n.*13G>A)
11g.45910079G>ACA2723701898PEX16c.*175C>T (n.*175C>T)
c.*10C>T (n.*10C>T)
dbSNP
11g.45910079G=CA1968698135PEX16c.*175C= (n.*175C=)
c.*10C= (n.*10C=)
11g.45910079G>TCA5959669PEX16c.*175C>A (n.*175C>A)
c.*10C>A (n.*10C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910080dupCA599028309PEX16c.*174dup (n.*174dup)
c.*9dup (n.*9dup)
dbSNP gnomAD v2 gnomAD v4
11g.45910081G>ACA5959670PEX16c.*173C>T (n.*173C>T)
c.*8C>T (n.*8C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910081G>CCA5959671PEX16c.*173C>G (n.*173C>G)
c.*8C>G (n.*8C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45910081G=CA1968698136PEX16c.*173C= (n.*173C=)
c.*8C= (n.*8C=)
11g.45910081G>TCA2613277776PEX16c.*173C>A (n.*173C>A)
c.*8C>A (n.*8C>A)
gnomAD v4
11g.45910082A=CA1968698137PEX16c.*172T= (n.*172T=)
c.*7T= (n.*7T=)
11g.45910082A>CCA599028310PEX16c.*172T>G (n.*172T>G)
c.*7T>G (n.*7T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45910082A>GCA2613277799PEX16c.*172T>C (n.*172T>C)
c.*7T>C (n.*7T>C)
gnomAD v4
11g.45910083G>TCA2613277801PEX16c.*171C>A (n.*171C>A)
c.*6C>A (n.*6C>A)
gnomAD v4
11g.45910084C=CA1968698138PEX16c.*170G= (n.*170G=)
c.*5G= (n.*5G=)
11g.45910084C>TCA5959672PEX16c.*170G>A (n.*170G>A)
c.*5G>A (n.*5G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910085G>ACA5959673PEX16c.*169C>T (n.*169C>T)
c.*4C>T (n.*4C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45910085G=CA1968698139PEX16c.*169C= (n.*169C=)
c.*4C= (n.*4C=)
11g.45910086C>ACA2613277809PEX16c.*168G>T (n.*168G>T)
c.*3G>T (n.*3G>T)
gnomAD v4
11g.45910088G>ACA1968698141PEX16c.*166C>T (n.*166C>T)
c.*1C>T (n.*1C>T)
dbSNP gnomAD v4
11g.45910088G>CCA2613277815PEX16c.*166C>G (n.*166C>G)
c.*1C>G (n.*1C>G)
gnomAD v4
11g.45910088G=CA1968698140PEX16c.*166C= (n.*166C=)
c.*1C= (n.*1C=)
11g.45910089T>ACA380222599PEX16c.*165A>T (n.*165A>T)
c.1041A>T (p.Ter347Cys)
gnomAD v4
11g.45910089T>CCA380222601PEX16c.*165A>G (n.*165A>G)
c.1041A>G (p.Ter347Trp)
11g.45910089T>GCA380222603PEX16c.*165A>C (n.*165A>C)
c.1041A>C (p.Ter347Cys)
11g.45910090C>ACA380222608PEX16c.*164G>T (n.*164G>T)
c.1040G>T (p.Ter347Leu)
11g.45910090C=CA1968698142PEX16c.*164G= (n.*164G=)
c.1040G= (p.Ter347=)
11g.45910090C>GCA380222612PEX16c.*164G>C (n.*164G>C)
c.1040G>C (p.Ter347Ser)
11g.45910090C>TCA473860686PEX16c.*164G>A (n.*164G>A)
c.1040G>A (p.Ter347=)
dbSNP
11g.45910091A>CCA380222614PEX16c.*163T>G (n.*163T>G)
c.1039T>G (p.Ter347Gly)
11g.45910091A>GCA380222618PEX16c.*163T>C (n.*163T>C)
c.1039T>C (p.Ter347Arg)
11g.45910091A>TCA380222620PEX16c.*163T>A (n.*163T>A)
c.1039T>A (p.Ter347Arg)
11g.45910092A>CCA473860687PEX16c.*162T>G (n.*162T>G)
c.1038T>G (p.Pro346=)
11g.45910092A>GCA473860688PEX16c.*162T>C (n.*162T>C)
c.1038T>C (p.Pro346=)
11g.45910092A>TCA473860689PEX16c.*162T>A (n.*162T>A)
c.1038T>A (p.Pro346=)
11g.45910093G>ACA380222627PEX16c.*161C>T (n.*161C>T)
c.1037C>T (p.Pro346Leu)
11g.45910093G>CCA380222628PEX16c.*161C>G (n.*161C>G)
c.1037C>G (p.Pro346Arg)
11g.45910093G>TCA380222630PEX16c.*161C>A (n.*161C>A)
c.1037C>A (p.Pro346His)
gnomAD v4
11g.45910094G>ACA380222635PEX16c.*160C>T (n.*160C>T)
c.1036C>T (p.Pro346Ser)
gnomAD v4
11g.45910094G>CCA380222633PEX16c.*160C>G (n.*160C>G)
c.1036C>G (p.Pro346Ala)
11g.45910094G>TCA380222634PEX16c.*160C>A (n.*160C>A)
c.1036C>A (p.Pro346Thr)
gnomAD v4
11g.45910095G>ACA5959674PEX16c.*159C>T (n.*159C>T)
c.1035C>T (p.His345=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910095G>CCA380222637PEX16c.*159C>G (n.*159C>G)
c.1035C>G (p.His345Gln)
11g.45910095G=CA1968698143PEX16c.*159C= (n.*159C=)
c.1035C= (p.His345=)
11g.45910095G>TCA380222640PEX16c.*159C>A (n.*159C>A)
c.1035C>A (p.His345Gln)
11g.45910096T>ACA380222644PEX16c.*158A>T (n.*158A>T)
c.1034A>T (p.His345Leu)
11g.45910096T>CCA380222646PEX16c.*158A>G (n.*158A>G)
c.1034A>G (p.His345Arg)
11g.45910096T>GCA5959675PEX16c.*158A>C (n.*158A>C)
c.1034A>C (p.His345Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910096T=CA1968698144PEX16c.*158A= (n.*158A=)
c.1034A= (p.His345=)
11g.45910097G>ACA221583985PEX16c.*157C>T (n.*157C>T)
c.1033C>T (p.His345Tyr)
dbSNP gnomAD v4
11g.45910097G>CCA380222658PEX16c.*157C>G (n.*157C>G)
c.1033C>G (p.His345Asp)
11g.45910097G=CA1968698145PEX16c.*157C= (n.*157C=)
c.1033C= (p.His345=)
11g.45910097G>TCA380222660PEX16c.*157C>A (n.*157C>A)
c.1033C>A (p.His345Asn)
gnomAD v4
11g.45910098T>ACA473860691PEX16c.*156A>T (n.*156A>T)
c.1032A>T (p.Gly344=)
gnomAD v4
11g.45910098T>CCA221584004PEX16c.*156A>G (n.*156A>G)
c.1032A>G (p.Gly344=)
dbSNP gnomAD v3 gnomAD v4
11g.45910098T>GCA473860692PEX16c.*156A>C (n.*156A>C)
c.1032A>C (p.Gly344=)
11g.45910098T=CA1968698146PEX16c.*156A= (n.*156A=)
c.1032A= (p.Gly344=)
11g.45910099C>ACA380222665PEX16c.*155G>T (n.*155G>T)
c.1031G>T (p.Gly344Val)
11g.45910099C>GCA380222668PEX16c.*155G>C (n.*155G>C)
c.1031G>C (p.Gly344Ala)
11g.45910099C>TCA380222675PEX16c.*155G>A (n.*155G>A)
c.1031G>A (p.Gly344Glu)
11g.45910100C>ACA380222682PEX16c.*154G>T (n.*154G>T)
c.1030G>T (p.Gly344Ter)
11g.45910100C>GCA380222680PEX16c.*154G>C (n.*154G>C)
c.1030G>C (p.Gly344Arg)
11g.45910100C>TCA380222678PEX16c.*154G>A (n.*154G>A)
c.1030G>A (p.Gly344Arg)
11g.45910101T>ACA473860693PEX16c.*153A>T (n.*153A>T)
c.1029A>T (p.Pro343=)
11g.45910101T>CCA473860694PEX16c.*153A>G (n.*153A>G)
c.1029A>G (p.Pro343=)
11g.45910101T>GCA473860695PEX16c.*153A>C (n.*153A>C)
c.1029A>C (p.Pro343=)
dbSNP
11g.45910101T=CA1968698147PEX16c.*153A= (n.*153A=)
c.1029A= (p.Pro343=)
11g.45910102G>ACA380222685PEX16c.*152C>T (n.*152C>T)
c.1028C>T (p.Pro343Leu)
dbSNP gnomAD v4
11g.45910102G>CCA380222688PEX16c.*152C>G (n.*152C>G)
c.1028C>G (p.Pro343Arg)
11g.45910102G=CA1968698148PEX16c.*152C= (n.*152C=)
c.1028C= (p.Pro343=)
11g.45910102G>TCA380222691PEX16c.*152C>A (n.*152C>A)
c.1028C>A (p.Pro343Gln)
11g.45910105_45910127dupCA2613277870PEX16c.*130_*152dup (n.*130_*152dup)
c.1006_1028dup (p.His345ArgfsTer16)
gnomAD v4
11g.45910103G>ACA380222695PEX16c.*151C>T (n.*151C>T)
c.1027C>T (p.Pro343Ser)
11g.45910103G>CCA5959676PEX16c.*151C>G (n.*151C>G)
c.1027C>G (p.Pro343Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.45910103G=CA1968698149PEX16c.*151C= (n.*151C=)
c.1027C= (p.Pro343=)
11g.45910103G>TCA380222699PEX16c.*151C>A (n.*151C>A)
c.1027C>A (p.Pro343Thr)
11g.45910104G>ACA473860696PEX16c.*150C>T (n.*150C>T)
c.1026C>T (p.Leu342=)
11g.45910104G>CCA473860697PEX16c.*150C>G (n.*150C>G)
c.1026C>G (p.Leu342=)
dbSNP
11g.45910104G=CA1968698150PEX16c.*150C= (n.*150C=)
c.1026C= (p.Leu342=)
11g.45910104G>TCA473860698PEX16c.*150C>A (n.*150C>A)
c.1026C>A (p.Leu342=)
gnomAD v4
11g.45910105A>CCA380222708PEX16c.*149T>G (n.*149T>G)
c.1025T>G (p.Leu342Arg)
11g.45910105A>GCA380222703PEX16c.*149T>C (n.*149T>C)
c.1025T>C (p.Leu342Pro)
11g.45910105A>TCA380222705PEX16c.*149T>A (n.*149T>A)
c.1025T>A (p.Leu342His)
11g.45910106G>ACA380222711PEX16c.*148C>T (n.*148C>T)
c.1024C>T (p.Leu342Phe)
dbSNP gnomAD v3 gnomAD v4
11g.45910106G>CCA380222713PEX16c.*148C>G (n.*148C>G)
c.1024C>G (p.Leu342Val)
11g.45910106G=CA1968698151PEX16c.*148C= (n.*148C=)
c.1024C= (p.Leu342=)
11g.45910106G>TCA380222715PEX16c.*148C>A (n.*148C>A)
c.1024C>A (p.Leu342Ile)
11g.45910107G>ACA473860699PEX16c.*147C>T (n.*147C>T)
c.1023C>T (p.Phe341=)
11g.45910107G>CCA380222718PEX16c.*147C>G (n.*147C>G)
c.1023C>G (p.Phe341Leu)
dbSNP
11g.45910107G=CA1968698152PEX16c.*147C= (n.*147C=)
c.1023C= (p.Phe341=)
11g.45910107G>TCA380222720PEX16c.*147C>A (n.*147C>A)
c.1023C>A (p.Phe341Leu)
11g.45910108A>CCA380222728PEX16c.*146T>G (n.*146T>G)
c.1022T>G (p.Phe341Cys)
11g.45910108A>GCA380222723PEX16c.*146T>C (n.*146T>C)
c.1022T>C (p.Phe341Ser)
11g.45910108A>TCA380222726PEX16c.*146T>A (n.*146T>A)
c.1022T>A (p.Phe341Tyr)
11g.45910109dupCA676924572PEX16c.*146dup (n.*146dup)
c.1022dup (p.Leu342ProfsTer?)
dbSNP
11g.45910109A>CCA380222729PEX16c.*145T>G (n.*145T>G)
c.1021T>G (p.Phe341Val)
11g.45910109A>GCA380222732PEX16c.*145T>C (n.*145T>C)
c.1021T>C (p.Phe341Leu)
11g.45910109A>TCA380222735PEX16c.*145T>A (n.*145T>A)
c.1021T>A (p.Phe341Ile)
11g.45910110C>ACA473860700PEX16c.*144G>T (n.*144G>T)
c.1020G>T (p.Ala340=)
gnomAD v4
11g.45910110C=CA1968698153PEX16c.*144G= (n.*144G=)
c.1020G= (p.Ala340=)
11g.45910110C>GCA473860701PEX16c.*144G>C (n.*144G>C)
c.1020G>C (p.Ala340=)
gnomAD v4
11g.45910110C>TCA5959677PEX16c.*144G>A (n.*144G>A)
c.1020G>A (p.Ala340=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910111G>ACA5959678PEX16c.*143C>T (n.*143C>T)
c.1019C>T (p.Ala340Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910111G>CCA380222739PEX16c.*143C>G (n.*143C>G)
c.1019C>G (p.Ala340Gly)
11g.45910111G=CA1968698154PEX16c.*143C= (n.*143C=)
c.1019C= (p.Ala340=)
11g.45910111G>TCA380222741PEX16c.*143C>A (n.*143C>A)
c.1019C>A (p.Ala340Glu)
dbSNP gnomAD v4
11g.45910112C>ACA380222744PEX16c.*142G>T (n.*142G>T)
c.1018G>T (p.Ala340Ser)
11g.45910112C=CA1968698155PEX16c.*142G= (n.*142G=)
c.1018G= (p.Ala340=)
11g.45910112C>GCA380222746PEX16c.*142G>C (n.*142G>C)
c.1018G>C (p.Ala340Pro)
dbSNP gnomAD v2 gnomAD v4
11g.45910112C>TCA380222748PEX16c.*142G>A (n.*142G>A)
c.1018G>A (p.Ala340Thr)
dbSNP gnomAD v4
11g.45910113T>ACA473860705PEX16c.*141A>T (n.*141A>T)
c.1017A>T (p.Pro339=)
11g.45910113T>CCA473860706PEX16c.*141A>G (n.*141A>G)
c.1017A>G (p.Pro339=)
11g.45910113T>GCA473860707PEX16c.*141A>C (n.*141A>C)
c.1017A>C (p.Pro339=)
11g.45910114G>ACA380222751PEX16c.*140C>T (n.*140C>T)
c.1016C>T (p.Pro339Leu)
11g.45910114G>CCA380222753PEX16c.*140C>G (n.*140C>G)
c.1016C>G (p.Pro339Arg)
11g.45910114G>TCA380222755PEX16c.*140C>A (n.*140C>A)
c.1016C>A (p.Pro339Gln)
11g.45910115G>ACA380222758PEX16c.*139C>T (n.*139C>T)
c.1015C>T (p.Pro339Ser)
11g.45910115G>CCA380222762PEX16c.*139C>G (n.*139C>G)
c.1015C>G (p.Pro339Ala)
11g.45910115G=CA1968698156PEX16c.*139C= (n.*139C=)
c.1015C= (p.Pro339=)
11g.45910115G>TCA380222760PEX16c.*139C>A (n.*139C>A)
c.1015C>A (p.Pro339Thr)
11g.45910116T>ACA473860710PEX16c.*138A>T (n.*138A>T)
c.1014A>T (p.Pro338=)
11g.45910116T>CCA473860708PEX16c.*138A>G (n.*138A>G)
c.1014A>G (p.Pro338=)
11g.45910116T>GCA473860709PEX16c.*138A>C (n.*138A>C)
c.1014A>C (p.Pro338=)
11g.45910116dupCA5959679PEX16c.*138dup (n.*138dup)
c.1014dup (p.Pro339ThrfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910117G>ACA5959680PEX16c.*137C>T (n.*137C>T)
c.1013C>T (p.Pro338Leu)
dbSNP ExAC gnomAD v2
11g.45910117G>CCA380222768PEX16c.*137C>G (n.*137C>G)
c.1013C>G (p.Pro338Arg)
11g.45910117G=CA1968698157PEX16c.*137C= (n.*137C=)
c.1013C= (p.Pro338=)
11g.45910117G>TCA380222771PEX16c.*137C>A (n.*137C>A)
c.1013C>A (p.Pro338Gln)
11g.45910118G>ACA380222774PEX16c.*136C>T (n.*136C>T)
c.1012C>T (p.Pro338Ser)
11g.45910118G>CCA380222775PEX16c.*136C>G (n.*136C>G)
c.1012C>G (p.Pro338Ala)
11g.45910118G>TCA380222777PEX16c.*136C>A (n.*136C>A)
c.1012C>A (p.Pro338Thr)
11g.45910119C>ACA473860711PEX16c.*135G>T (n.*135G>T)
c.1011G>T (p.Ser337=)
11g.45910119C=CA1968698158PEX16c.*135G= (n.*135G=)
c.1011G= (p.Ser337=)
11g.45910119C>GCA473860712PEX16c.*135G>C (n.*135G>C)
c.1011G>C (p.Ser337=)
11g.45910119C>TCA5959681PEX16c.*135G>A (n.*135G>A)
c.1011G>A (p.Ser337=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910120G>ACA5959682PEX16c.*134C>T (n.*134C>T)
c.1010C>T (p.Ser337Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910120G>CCA380222783PEX16c.*134C>G (n.*134C>G)
c.1010C>G (p.Ser337Trp)
11g.45910120G=CA1968698159PEX16c.*134C= (n.*134C=)
c.1010C= (p.Ser337=)
11g.45910120G>TCA380222785PEX16c.*134C>A (n.*134C>A)
c.1010C>A (p.Ser337Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45910121A=CA1968698160PEX16c.*133T= (n.*133T=)
c.1009T= (p.Ser337=)
11g.45910121A>CCA380222792PEX16c.*133T>G (n.*133T>G)
c.1009T>G (p.Ser337Ala)
11g.45910121A>GCA380222791PEX16c.*133T>C (n.*133T>C)
c.1009T>C (p.Ser337Pro)
dbSNP
11g.45910121A>TCA380222789PEX16c.*133T>A (n.*133T>A)
c.1009T>A (p.Ser337Thr)
11g.45910122C>ACA380222793PEX16c.*132G>T (n.*132G>T)
c.1008G>T (p.Trp336Cys)
dbSNP
11g.45910122C=CA1968698161PEX16c.*132G= (n.*132G=)
c.1008G= (p.Trp336=)
11g.45910122C>GCA380222794PEX16c.*132G>C (n.*132G>C)
c.1008G>C (p.Trp336Cys)
11g.45910122C>TCA380222795PEX16c.*132G>A (n.*132G>A)
c.1008G>A (p.Trp336Ter)
11g.45910123delCA2574806413PEX16c.*132del (n.*132del)
c.1008del (p.Trp336CysfsTer17)
11g.45910123C>ACA380222796PEX16c.*131G>T (n.*131G>T)
c.1007G>T (p.Trp336Leu)
11g.45910123C=CA1968698162PEX16c.*131G= (n.*131G=)
c.1007G= (p.Trp336=)
11g.45910123C>GCA380222797PEX16c.*131G>C (n.*131G>C)
c.1007G>C (p.Trp336Ser)
dbSNP gnomAD v2 gnomAD v4
11g.45910123C>TCA380222798PEX16c.*131G>A (n.*131G>A)
c.1007G>A (p.Trp336Ter)
11g.45910124A=CA1968698163PEX16c.*130T= (n.*130T=)
c.1006T= (p.Trp336=)
11g.45910124A>CCA380222799PEX16c.*130T>G (n.*130T>G)
c.1006T>G (p.Trp336Gly)
11g.45910124A>GCA380222800PEX16c.*130T>C (n.*130T>C)
c.1006T>C (p.Trp336Arg)
11g.45910124A>TCA5959683PEX16c.*130T>A (n.*130T>A)
c.1006T>A (p.Trp336Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910125G>ACA473860713PEX16c.*129C>T (n.*129C>T)
c.1005C>T (p.Pro335=)
11g.45910125G>CCA473860714PEX16c.*129C>G (n.*129C>G)
c.1005C>G (p.Pro335=)
11g.45910125G>TCA473860715PEX16c.*129C>A (n.*129C>A)
c.1005C>A (p.Pro335=)
11g.45910126G>ACA380222801PEX16c.*128C>T (n.*128C>T)
c.1004C>T (p.Pro335Leu)
11g.45910126G>CCA380222802PEX16c.*128C>G (n.*128C>G)
c.1004C>G (p.Pro335Arg)
11g.45910126G>TCA380222803PEX16c.*128C>A (n.*128C>A)
c.1004C>A (p.Pro335His)
11g.45910127G>ACA380222806PEX16c.*127C>T (n.*127C>T)
c.1003C>T (p.Pro335Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45910127G>CCA380222805PEX16c.*127C>G (n.*127C>G)
c.1003C>G (p.Pro335Ala)
11g.45910127G=CA1968698164PEX16c.*127C= (n.*127C=)
c.1003C= (p.Pro335=)
11g.45910127G>TCA380222804PEX16c.*127C>A (n.*127C>A)
c.1003C>A (p.Pro335Thr)
dbSNP gnomAD v2 gnomAD v4
11g.45910128C>ACA380222807PEX16c.*126G>T (n.*126G>T)
c.1002G>T (p.Gln334His)
11g.45910128C>GCA380222809PEX16c.*126G>C (n.*126G>C)
c.1002G>C (p.Gln334His)
11g.45910128C>TCA473860716PEX16c.*126G>A (n.*126G>A)
c.1002G>A (p.Gln334=)
11g.45910129T>ACA380222812PEX16c.*125A>T (n.*125A>T)
c.1001A>T (p.Gln334Leu)
11g.45910129T>CCA380222817PEX16c.*125A>G (n.*125A>G)
c.1001A>G (p.Gln334Arg)
dbSNP gnomAD v4
11g.45910129T>GCA380222814PEX16c.*125A>C (n.*125A>C)
c.1001A>C (p.Gln334Pro)
11g.45910129T=CA1968698165PEX16c.*125A= (n.*125A=)
c.1001A= (p.Gln334=)
11g.45910135_45910136delCA2613277959PEX16c.*124_*125del (n.*124_*125del)
c.1000_1001del (p.Gln334AlafsTer?)
gnomAD v4
11g.45910130G>ACA380222820PEX16c.*124C>T (n.*124C>T)
c.1000C>T (p.Gln334Ter)
dbSNP gnomAD v4
11g.45910130G>CCA380222822PEX16c.*124C>G (n.*124C>G)
c.1000C>G (p.Gln334Glu)
11g.45910130G=CA1968698166PEX16c.*124C= (n.*124C=)
c.1000C= (p.Gln334=)
11g.45910130G>TCA380222824PEX16c.*124C>A (n.*124C>A)
c.1000C>A (p.Gln334Lys)
11g.45910131T>ACA473860717PEX16c.*123A>T (n.*123A>T)
c.999A>T (p.Thr333=)
11g.45910131T>CCA5959684PEX16c.*123A>G (n.*123A>G)
c.999A>G (p.Thr333=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910131T>GCA473860718PEX16c.*123A>C (n.*123A>C)
c.999A>C (p.Thr333=)
11g.45910131T=CA1968698167PEX16c.*123A= (n.*123A=)
c.999A= (p.Thr333=)
11g.45910132G>ACA380222830PEX16c.*122C>T (n.*122C>T)
c.998C>T (p.Thr333Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.45910132G>CCA380222834PEX16c.*122C>G (n.*122C>G)
c.998C>G (p.Thr333Arg)
COSMIC
11g.45910132G=CA1968698168PEX16c.*122C= (n.*122C=)
c.998C= (p.Thr333=)
11g.45910132G>TCA380222836PEX16c.*122C>A (n.*122C>A)
c.998C>A (p.Thr333Lys)
11g.45910132dupCA5959685PEX16c.*122dup (n.*122dup)
c.998dup (p.Gln334ThrfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.45910133T>ACA380222839PEX16c.*121A>T (n.*121A>T)
c.997A>T (p.Thr333Ser)
11g.45910133T>CCA380222841PEX16c.*121A>G (n.*121A>G)
c.997A>G (p.Thr333Ala)
dbSNP gnomAD v2
11g.45910133T>GCA380222843PEX16c.*121A>C (n.*121A>C)
c.997A>C (p.Thr333Pro)
dbSNP gnomAD v2 gnomAD v4
11g.45910133T=CA1968698169PEX16c.*121A= (n.*121A=)
c.997A= (p.Thr333=)
11g.45910134G>ACA473860719PEX16c.*120C>T (n.*120C>T)
c.996C>T (p.His332=)
11g.45910134G>CCA380222849PEX16c.*120C>G (n.*120C>G)
c.996C>G (p.His332Gln)
11g.45910134G>TCA380222847PEX16c.*120C>A (n.*120C>A)
c.996C>A (p.His332Gln)
11g.45910135T>ACA380222852PEX16c.*119A>T (n.*119A>T)
c.995A>T (p.His332Leu)
11g.45910135T>CCA380222854PEX16c.*119A>G (n.*119A>G)
c.995A>G (p.His332Arg)
COSMIC
11g.45910135T>GCA380222856PEX16c.*119A>C (n.*119A>C)
c.995A>C (p.His332Pro)
11g.45910136G>ACA380222859PEX16c.*118C>T (n.*118C>T)
c.994C>T (p.His332Tyr)
11g.45910136G>CCA380222861PEX16c.*118C>G (n.*118C>G)
c.994C>G (p.His332Asp)
11g.45910136G>TCA380222863PEX16c.*118C>A (n.*118C>A)
c.994C>A (p.His332Asn)
11g.45910137G>ACA473860720PEX16c.*117C>T (n.*117C>T)
c.993C>T (p.Pro331=)
gnomAD v4
11g.45910137G>CCA473860721PEX16c.*117C>G (n.*117C>G)
c.993C>G (p.Pro331=)
11g.45910137G>TCA473860722PEX16c.*117C>A (n.*117C>A)
c.993C>A (p.Pro331=)
11g.45910138G>ACA380222866PEX16c.*116C>T (n.*116C>T)
c.992C>T (p.Pro331Leu)
11g.45910138G>CCA380222868PEX16c.*116C>G (n.*116C>G)
c.992C>G (p.Pro331Arg)
11g.45910138G>TCA380222870PEX16c.*116C>A (n.*116C>A)
c.992C>A (p.Pro331His)
11g.45910139G>ACA5959686PEX16c.*115C>T (n.*115C>T)
c.991C>T (p.Pro331Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910139G>CCA380222875PEX16c.*115C>G (n.*115C>G)
c.991C>G (p.Pro331Ala)
11g.45910139G=CA1968698170PEX16c.*115C= (n.*115C=)
c.991C= (p.Pro331=)
11g.45910139G>TCA380222877PEX16c.*115C>A (n.*115C>A)
c.991C>A (p.Pro331Thr)
COSMIC
11g.45910140C>ACA380222881PEX16c.*114G>T (n.*114G>T)
c.990G>T (p.Arg330Ser)
dbSNP gnomAD v3 gnomAD v4
11g.45910140C=CA1968698171PEX16c.*114G= (n.*114G=)
c.990G= (p.Arg330=)
11g.45910140C>GCA380222883PEX16c.*114G>C (n.*114G>C)
c.990G>C (p.Arg330Ser)
dbSNP gnomAD v3 gnomAD v4
11g.45910140C>TCA5959687PEX16c.*114G>A (n.*114G>A)
c.990G>A (p.Arg330=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910140_45910149delCA2791291408PEX16c.*105_*114del (n.*105_*114del)
c.981_990del (p.Ala329ThrfsTer21)
11g.45910141C>ACA380222886PEX16c.*113G>T (n.*113G>T)
c.989G>T (p.Arg330Met)
11g.45910141C>GCA380222888PEX16c.*113G>C (n.*113G>C)
c.989G>C (p.Arg330Thr)
11g.45910141C>TCA380222890PEX16c.*113G>A (n.*113G>A)
c.989G>A (p.Arg330Lys)
11g.45910142T>ACA380222892PEX16c.*112A>T (n.*112A>T)
c.988A>T (p.Arg330Trp)
11g.45910142T>CCA380222894PEX16c.*112A>G (n.*112A>G)
c.988A>G (p.Arg330Gly)
dbSNP gnomAD v4
11g.45910142T>GCA473860723PEX16c.*112A>C (n.*112A>C)
c.988A>C (p.Arg330=)
11g.45910142T=CA1968698172PEX16c.*112A= (n.*112A=)
c.988A= (p.Arg330=)
11g.45910143G>ACA473860726PEX16c.*111C>T (n.*111C>T)
c.987C>T (p.Ala329=)
11g.45910143G>CCA473860725PEX16c.*111C>G (n.*111C>G)
c.987C>G (p.Ala329=)
11g.45910143G>TCA473860724PEX16c.*111C>A (n.*111C>A)
c.987C>A (p.Ala329=)
11g.45910144G>ACA380222901PEX16c.*110C>T (n.*110C>T)
c.986C>T (p.Ala329Val)
11g.45910144G>CCA380222899PEX16c.*110C>G (n.*110C>G)
c.986C>G (p.Ala329Gly)
11g.45910144G>TCA380222897PEX16c.*110C>A (n.*110C>A)
c.986C>A (p.Ala329Asp)
11g.45910145C>ACA380222905PEX16c.*109G>T (n.*109G>T)
c.985G>T (p.Ala329Ser)
11g.45910145C=CA1968698173PEX16c.*109G= (n.*109G=)
c.985G= (p.Ala329=)
11g.45910145C>GCA380222907PEX16c.*109G>C (n.*109G>C)
c.985G>C (p.Ala329Pro)
11g.45910145C>TCA380222909PEX16c.*109G>A (n.*109G>A)
c.985G>A (p.Ala329Thr)
dbSNP gnomAD v4 COSMIC
11g.45910146C>ACA473860727PEX16c.*108G>T (n.*108G>T)
c.984G>T (p.Pro328=)
11g.45910146C=CA1968698174PEX16c.*108G= (n.*108G=)
c.984G= (p.Pro328=)
11g.45910146C>GCA473860728PEX16c.*108G>C (n.*108G>C)
c.984G>C (p.Pro328=)
11g.45910146C>TCA473860729PEX16c.*108G>A (n.*108G>A)
c.984G>A (p.Pro328=)
dbSNP gnomAD v2 gnomAD v4
11g.45910147G>ACA5959688PEX16c.*107C>T (n.*107C>T)
c.983C>T (p.Pro328Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910147G>CCA380222913PEX16c.*107C>G (n.*107C>G)
c.983C>G (p.Pro328Arg)
11g.45910147G=CA1968698175PEX16c.*107C= (n.*107C=)
c.983C= (p.Pro328=)
11g.45910147G>TCA380222916PEX16c.*107C>A (n.*107C>A)
c.983C>A (p.Pro328Gln)
11g.45910148G>ACA380222919PEX16c.*106C>T (n.*106C>T)
c.982C>T (p.Pro328Ser)
dbSNP gnomAD v2
11g.45910148G>CCA221584061PEX16c.*106C>G (n.*106C>G)
c.982C>G (p.Pro328Ala)
dbSNP gnomAD v2 gnomAD v4
11g.45910148G=CA1968698176PEX16c.*106C= (n.*106C=)
c.982C= (p.Pro328=)
11g.45910148G>TCA380222922PEX16c.*106C>A (n.*106C>A)
c.982C>A (p.Pro328Thr)
11g.45910149T>ACA473860732PEX16c.*105A>T (n.*105A>T)
c.981A>T (p.Leu327=)
dbSNP gnomAD v3 gnomAD v4
11g.45910149T>CCA473860730PEX16c.*105A>G (n.*105A>G)
c.981A>G (p.Leu327=)
gnomAD v4
11g.45910149T>GCA473860731PEX16c.*105A>C (n.*105A>C)
c.981A>C (p.Leu327=)
11g.45910149T=CA1968698177PEX16c.*105A= (n.*105A=)
c.981A= (p.Leu327=)
11g.45910150A>CCA380222928PEX16c.*104T>G (n.*104T>G)
c.980T>G (p.Leu327Arg)
11g.45910150A>GCA380222931PEX16c.*104T>C (n.*104T>C)
c.980T>C (p.Leu327Pro)
11g.45910150A>TCA380222933PEX16c.*104T>A (n.*104T>A)
c.980T>A (p.Leu327Gln)
11g.45910150dupCA5959689PEX16c.*104dup (n.*104dup)
c.980dup (p.Pro328ThrfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910150_45910151delinsAGCA1968698178PEX16c.*103_*104delinsCT (n.*103_*104delinsCT)
c.979_980delinsCT (p.Leu327=)
11g.45910151G>ACA473860733PEX16c.*103C>T (n.*103C>T)
c.979C>T (p.Leu327=)
gnomAD v4
11g.45910151G>CCA380222936PEX16c.*103C>G (n.*103C>G)
c.979C>G (p.Leu327Val)
11g.45910151G>TCA380222937PEX16c.*103C>A (n.*103C>A)
c.979C>A (p.Leu327Ile)
11g.45910152delCA1968698179PEX16c.*103del (n.*103del)
c.979del (p.Leu327TyrfsTer26)
dbSNP
11g.45910152G>ACA473860734PEX16c.*102C>T (n.*102C>T)
c.978C>T (p.Cys326=)
11g.45910152G>CCA380222941PEX16c.*102C>G (n.*102C>G)
c.978C>G (p.Cys326Trp)
11g.45910152G>TCA380222942PEX16c.*102C>A (n.*102C>A)
c.978C>A (p.Cys326Ter)
11g.45910153C>ACA380222945PEX16c.*101G>T (n.*101G>T)
c.977G>T (p.Cys326Phe)
dbSNP gnomAD v2 gnomAD v4
11g.45910153C=CA1968698180PEX16c.*101G= (n.*101G=)
c.977G= (p.Cys326=)
11g.45910153C>GCA380222946PEX16c.*101G>C (n.*101G>C)
c.977G>C (p.Cys326Ser)
11g.45910153C>TCA380222948PEX16c.*101G>A (n.*101G>A)
c.977G>A (p.Cys326Tyr)
11g.45910154A>CCA380222956PEX16c.*100T>G (n.*100T>G)
c.976T>G (p.Cys326Gly)
11g.45910154A>GCA380222954PEX16c.*100T>C (n.*100T>C)
c.976T>C (p.Cys326Arg)
11g.45910154A>TCA380222952PEX16c.*100T>A (n.*100T>A)
c.976T>A (p.Cys326Ser)
11g.45910155C>ACA473860735PEX16c.*99G>T (n.*99G>T)
c.975G>T (p.Pro325=)
dbSNP gnomAD v2 gnomAD v4
11g.45910155C=CA1968698181PEX16c.*99G= (n.*99G=)
c.975G= (p.Pro325=)
11g.45910155C>GCA473860736PEX16c.*99G>C (n.*99G>C)
c.975G>C (p.Pro325=)
11g.45910155C>TCA473860737PEX16c.*99G>A (n.*99G>A)
c.975G>A (p.Pro325=)
dbSNP gnomAD v4
11g.45910156G>ACA5959690PEX16c.*98C>T (n.*98C>T)
c.974C>T (p.Pro325Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.45910156G>CCA380222962PEX16c.*98C>G (n.*98C>G)
c.974C>G (p.Pro325Arg)
gnomAD v4
11g.45910156G=CA1968698182PEX16c.*98C= (n.*98C=)
c.974C= (p.Pro325=)
11g.45910156G>TCA380222960PEX16c.*98C>A (n.*98C>A)
c.974C>A (p.Pro325Gln)
11g.45910157G>ACA380222964PEX16c.*97C>T (n.*97C>T)
c.973C>T (p.Pro325Ser)
11g.45910157G>CCA380222965PEX16c.*97C>G (n.*97C>G)
c.973C>G (p.Pro325Ala)
11g.45910157G>TCA380222968PEX16c.*97C>A (n.*97C>A)
c.973C>A (p.Pro325Thr)
11g.45910158A>CCA473860740PEX16c.*96T>G (n.*96T>G)
c.972T>G (p.Ser324=)
11g.45910158A>GCA473860738PEX16c.*96T>C (n.*96T>C)
c.972T>C (p.Ser324=)
11g.45910158A>TCA473860739PEX16c.*96T>A (n.*96T>A)
c.972T>A (p.Ser324=)
11g.45910159G>ACA380222971PEX16c.*95C>T (n.*95C>T)
c.971C>T (p.Ser324Phe)
dbSNP gnomAD v3 gnomAD v4
11g.45910159G>CCA380222973PEX16c.*95C>G (n.*95C>G)
c.971C>G (p.Ser324Cys)
11g.45910159G=CA1968698183PEX16c.*95C= (n.*95C=)
c.971C= (p.Ser324=)
11g.45910159G>TCA380222975PEX16c.*95C>A (n.*95C>A)
c.971C>A (p.Ser324Tyr)
11g.45910160A>CCA380222979PEX16c.*94T>G (n.*94T>G)
c.970T>G (p.Ser324Ala)
11g.45910160A>GCA380222981PEX16c.*94T>C (n.*94T>C)
c.970T>C (p.Ser324Pro)
11g.45910160A>TCA380222984PEX16c.*94T>A (n.*94T>A)
c.970T>A (p.Ser324Thr)
11g.45910161G>ACA473860741PEX16c.*93C>T (n.*93C>T)
c.969C>T (p.Ala323=)
11g.45910161G>CCA473860742PEX16c.*93C>G (n.*93C>G)
c.969C>G (p.Ala323=)
11g.45910161G>TCA473860743PEX16c.*93C>A (n.*93C>A)
c.969C>A (p.Ala323=)

Number of alleles fetched