Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73640895G>ACA2659622916NAT8c.*50C>T (n.*50C>T)
gnomAD v4
2g.73640895G>TCA2659622917NAT8c.*50C>A (n.*50C>A)
gnomAD v4
2g.73640896C>GCA2659622918NAT8c.*49G>C (n.*49G>C)
gnomAD v4
2g.73640897T>CCA1715615NAT8c.*48A>G (n.*48A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640897T=CA1261057045NAT8c.*48A= (n.*48A=)
2g.73640898G>ACA534125738NAT8c.*47C>T (n.*47C>T)
dbSNP gnomAD v2
2g.73640898G>CCA1261057047NAT8c.*47C>G (n.*47C>G)
dbSNP
2g.73640898G=CA1261057046NAT8c.*47C= (n.*47C=)
2g.73640898G>TCA2577005378NAT8c.*47C>A (n.*47C>A)
gnomAD v4
2g.73640899C>TCA2659622919NAT8c.*46G>A (n.*46G>A)
gnomAD v4
2g.73640900T>CCA1261057049NAT8c.*45A>G (n.*45A>G)
dbSNP gnomAD v4
2g.73640900T=CA1261057048NAT8c.*45A= (n.*45A=)
2g.73640901A=CA1261057050NAT8c.*44T= (n.*44T=)
2g.73640901A>CCA2659622920NAT8c.*44T>G (n.*44T>G)
gnomAD v4
2g.73640901A>GCA892866944NAT8c.*44T>C (n.*44T>C)
dbSNP gnomAD v4
2g.73640902C>ACA2659622921NAT8c.*43G>T (n.*43G>T)
gnomAD v4
2g.73640902C>TCA2577005379NAT8c.*43G>A (n.*43G>A)
gnomAD v4
2g.73640903A>CCA2659622922NAT8c.*42T>G (n.*42T>G)
gnomAD v4
2g.73640903A>GCA2659622923NAT8c.*42T>C (n.*42T>C)
gnomAD v4
2g.73640904G>ACA534125739NAT8c.*41C>T (n.*41C>T)
dbSNP gnomAD v2
2g.73640904G>CCA2659622924NAT8c.*41C>G (n.*41C>G)
gnomAD v4
2g.73640904G=CA1261057051NAT8c.*41C= (n.*41C=)
2g.73640904G>TCA2577005380NAT8c.*41C>A (n.*41C>A)
gnomAD v4
2g.73640905C>ACA2659622925NAT8c.*40G>T (n.*40G>T)
gnomAD v4
2g.73640906T>CCA1715616NAT8c.*39A>G (n.*39A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640906T=CA1261057052NAT8c.*39A= (n.*39A=)
2g.73640907G>ACA2659622926NAT8c.*38C>T (n.*38C>T)
gnomAD v4
2g.73640907G>TCA2659622927NAT8c.*38C>A (n.*38C>A)
gnomAD v4
2g.73640909A=CA1261057053NAT8c.*36T= (n.*36T=)
2g.73640909A>GCA1715617NAT8c.*36T>C (n.*36T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640910T>ACA2659622928NAT8c.*35A>T (n.*35A>T)
gnomAD v4
2g.73640910T>CCA2659622929NAT8c.*35A>G (n.*35A>G)
gnomAD v4
2g.73640911G>TCA2659622930NAT8c.*34C>A (n.*34C>A)
gnomAD v4
2g.73640912G>TCA2659622931NAT8c.*33C>A (n.*33C>A)
gnomAD v4
2g.73640914T>ACA892866950NAT8c.*31A>T (n.*31A>T)
dbSNP gnomAD v3 gnomAD v4
2g.73640914T>CCA534125740NAT8c.*31A>G (n.*31A>G)
dbSNP gnomAD v2 gnomAD v4
2g.73640914T=CA1261057054NAT8c.*31A= (n.*31A=)
2g.73640916C>ACA2659622932NAT8c.*29G>T (n.*29G>T)
gnomAD v4
2g.73640917T>CCA2659622933NAT8c.*28A>G (n.*28A>G)
gnomAD v4
2g.73640918A=CA1261057055NAT8c.*27T= (n.*27T=)
2g.73640918A>GCA50370809NAT8c.*27T>C (n.*27T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73640920T>GCA1261057057NAT8c.*25A>C (n.*25A>C)
dbSNP
2g.73640920T=CA1261057056NAT8c.*25A= (n.*25A=)
2g.73640923G>ACA2534979113NAT8c.*22C>T (n.*22C>T)
2g.73640923G>TCA2659622934NAT8c.*22C>A (n.*22C>A)
gnomAD v4
2g.73640924A>TCA2659622935NAT8c.*21T>A (n.*21T>A)
gnomAD v4
2g.73640925C=CA1261057058NAT8c.*20G= (n.*20G=)
2g.73640925C>GCA1032223366NAT8c.*20G>C (n.*20G>C)
dbSNP gnomAD v3 gnomAD v4
2g.73640925C>TCA892866952NAT8c.*20G>A (n.*20G>A)
dbSNP gnomAD v4
2g.73640926C>ACA1261057060NAT8c.*19G>T (n.*19G>T)
dbSNP gnomAD v4
2g.73640926C=CA1261057059NAT8c.*19G= (n.*19G=)
2g.73640926C>TCA2561506473NAT8c.*19G>A (n.*19G>A)
gnomAD v4
2g.73640927A=CA1261057061NAT8c.*18T= (n.*18T=)
2g.73640927A>CCA1261057062NAT8c.*18T>G (n.*18T>G)
dbSNP
2g.73640927A>GCA2659622936NAT8c.*18T>C (n.*18T>C)
gnomAD v4
2g.73640928A=CA1261057063NAT8c.*17T= (n.*17T=)
2g.73640928A>GCA534125741NAT8c.*17T>C (n.*17T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73640929T>ACA534125742NAT8c.*16A>T (n.*16A>T)
dbSNP gnomAD v2
2g.73640929T>CCA2659622937NAT8c.*16A>G (n.*16A>G)
gnomAD v4
2g.73640929T=CA1261057064NAT8c.*16A= (n.*16A=)
2g.73640933_73640936delCA2659622938NAT8c.*12_*15del (n.*12_*15del)
gnomAD v4
2g.73640931C>TCA2577005381NAT8c.*14G>A (n.*14G>A)
2g.73640932A>GCA2659622939NAT8c.*13T>C (n.*13T>C)
gnomAD v4
2g.73640933C=CA1261057065NAT8c.*12G= (n.*12G=)
2g.73640933C>GCA1715618NAT8c.*12G>C (n.*12G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640933C>TCA1261057066NAT8c.*12G>A (n.*12G>A)
dbSNP
2g.73640934A>GCA2659622940NAT8c.*11T>C (n.*11T>C)
gnomAD v4
2g.73640935C>ACA1715620NAT8c.*10G>T (n.*10G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640935C=CA1261057067NAT8c.*10G= (n.*10G=)
2g.73640935C>GCA1715619NAT8c.*10G>C (n.*10G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640936A=CA1261057068NAT8c.*9T= (n.*9T=)
2g.73640936A>CCA2659622942NAT8c.*9T>G (n.*9T>G)
gnomAD v4
2g.73640936A>GCA1715621NAT8c.*9T>C (n.*9T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640936A>TCA534125743NAT8c.*9T>A (n.*9T>A)
dbSNP gnomAD v2 gnomAD v4
2g.73640937_73640938delCA2659622941NAT8c.*8_*9del (n.*8_*9del)
gnomAD v4
2g.73640937G>ACA1261057069NAT8c.*8C>T (n.*8C>T)
dbSNP
2g.73640937G=CA1261057070NAT8c.*8C= (n.*8C=)
2g.73640939_73640941delinsAAGCA1261057071NAT8c.*4_*6delinsCTT (n.*4_*6delinsCTT)
2g.73640940A=CA1261057072NAT8c.*5T= (n.*5T=)
2g.73640940A>GCA534125744NAT8c.*5T>C (n.*5T>C)
dbSNP gnomAD v2 gnomAD v4
2g.73640943_73640944delCA1715622NAT8c.*4_*5del (n.*4_*5del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640941G>ACA2577005382NAT8c.*4C>T (n.*4C>T)
gnomAD v4
2g.73640941G=CA1261057073NAT8c.*4C= (n.*4C=)
2g.73640941G>TCA892866964NAT8c.*4C>A (n.*4C>A)
dbSNP
2g.73640942A=CA1261057074NAT8c.*3T= (n.*3T=)
2g.73640942A>TCA50370820NAT8c.*3T>A (n.*3T>A)
dbSNP
2g.73640943G>ACA1715624NAT8c.*2C>T (n.*2C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640943G=CA1261057075NAT8c.*2C= (n.*2C=)
2g.73640943G>TCA1715623NAT8c.*2C>A (n.*2C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640944A=CA1261057076NAT8c.*1T= (n.*1T=)
2g.73640944A>CCA1715625NAT8c.*1T>G (n.*1T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640945T>ACA347285955NAT8c.684A>T (p.Ter228Cys)
2g.73640945T>CCA347285956NAT8c.684A>G (p.Ter228Trp)
gnomAD v4
2g.73640945T>GCA347285958NAT8c.684A>C (p.Ter228Cys)
2g.73640945dupCA534125745NAT8c.684dup (n.684dup)
dbSNP gnomAD v2 gnomAD v4
2g.73640946C>ACA347285961NAT8c.683G>T (p.Ter228Leu)
gnomAD v4
2g.73640946C=CA1261057077NAT8c.683G= (p.Ter228=)
2g.73640946C>GCA347285962NAT8c.683G>C (p.Ter228Ser)
2g.73640946C>TCA1715626NAT8c.683G>A (p.Ter228=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640948_73640949delCA2577005383NAT8c.682_683del (p.Ter228IleextTer10)
gnomAD v4
2g.73640947A=CA1261057078NAT8c.682T= (p.Ter228=)
2g.73640947A>CCA347285965NAT8c.682T>G (p.Ter228Gly)
2g.73640947A>GCA1715627NAT8c.682T>C (p.Ter228Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640947A>TCA347285967NAT8c.682T>A (p.Ter228Arg)
2g.73640948C>ACA427024242NAT8c.681G>T (p.Leu227=)
2g.73640948C=CA1261057079NAT8c.681G= (p.Leu227=)
2g.73640948C>GCA1715629NAT8c.681G>C (p.Leu227=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640948C>TCA1715628NAT8c.681G>A (p.Leu227=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640949A=CA1261057080NAT8c.680T= (p.Leu227=)
2g.73640949A>CCA347285972NAT8c.680T>G (p.Leu227Arg)
2g.73640949A>GCA347285973NAT8c.680T>C (p.Leu227Pro)
2g.73640949A>TCA50370850NAT8c.680T>A (p.Leu227Gln)
dbSNP
2g.73640950G>ACA427024244NAT8c.679C>T (p.Leu227=)
2g.73640950G>CCA347285975NAT8c.679C>G (p.Leu227Val)
2g.73640950G>TCA347285977NAT8c.679C>A (p.Leu227Met)
2g.73640951A=CA1261057081NAT8c.678T= (p.Ser226=)
2g.73640951A>CCA347285979NAT8c.678T>G (p.Ser226Arg)
dbSNP
2g.73640951A>GCA427024245NAT8c.678T>C (p.Ser226=)
2g.73640951A>TCA347285981NAT8c.678T>A (p.Ser226Arg)
dbSNP gnomAD v2 gnomAD v4
2g.73640952C>ACA347285984NAT8c.677G>T (p.Ser226Ile)
2g.73640952C=CA1261057082NAT8c.677G= (p.Ser226=)
2g.73640952C>GCA1715630NAT8c.677G>C (p.Ser226Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640952C>TCA347285986NAT8c.677G>A (p.Ser226Asn)
2g.73640953T>ACA347285992NAT8c.676A>T (p.Ser226Cys)
2g.73640953T>CCA347285988NAT8c.676A>G (p.Ser226Gly)
2g.73640953T>GCA1715631NAT8c.676A>C (p.Ser226Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640953T=CA1261057083NAT8c.676A= (p.Ser226=)
2g.73640954C>ACA427024247NAT8c.675G>T (p.Gly225=)
2g.73640954C>GCA427024248NAT8c.675G>C (p.Gly225=)
2g.73640954C>TCA427024249NAT8c.675G>A (p.Gly225=)
2g.73640955C>ACA347285994NAT8c.674G>T (p.Gly225Val)
2g.73640955C=CA1261057084NAT8c.674G= (p.Gly225=)
2g.73640955C>GCA347285995NAT8c.674G>C (p.Gly225Ala)
2g.73640955C>TCA347285998NAT8c.674G>A (p.Gly225Glu)
dbSNP gnomAD v2 gnomAD v4
2g.73640956C>ACA347286000NAT8c.673G>T (p.Gly225Trp)
2g.73640956C>GCA347286002NAT8c.673G>C (p.Gly225Arg)
gnomAD v4
2g.73640956C>TCA347286004NAT8c.673G>A (p.Gly225Arg)
2g.73640957T>ACA427024252NAT8c.672A>T (p.Val224=)
gnomAD v4
2g.73640957T>CCA427024251NAT8c.672A>G (p.Val224=)
dbSNP
2g.73640957T>GCA427024250NAT8c.672A>C (p.Val224=)
2g.73640957T=CA1261057085NAT8c.672A= (p.Val224=)
2g.73640958A=CA1261057086NAT8c.671T= (p.Val224=)
2g.73640958A>CCA347286006NAT8c.671T>G (p.Val224Gly)
2g.73640958A>GCA1715632NAT8c.671T>C (p.Val224Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640958A>TCA347286009NAT8c.671T>A (p.Val224Glu)
2g.73640959C>ACA347286012NAT8c.670G>T (p.Val224Leu)
gnomAD v4
2g.73640959C=CA1261057087NAT8c.670G= (p.Val224=)
2g.73640959C>GCA347286013NAT8c.670G>C (p.Val224Leu)
2g.73640959C>TCA1715633NAT8c.670G>A (p.Val224Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640959_73640961delinsCCTCA1261057088NAT8c.668_670delinsAGG (p.Lys223=)
2g.73640960C>ACA347286015NAT8c.669G>T (p.Lys223Asn)
2g.73640960C>GCA347286019NAT8c.669G>C (p.Lys223Asn)
2g.73640960C>TCA427024254NAT8c.669G>A (p.Lys223=)
2g.73640960_73640961delCA892866997NAT8c.668_669del (p.Lys223SerfsTer15)
dbSNP
2g.73640961T>ACA347286021NAT8c.668A>T (p.Lys223Met)
2g.73640961T>CCA347286024NAT8c.668A>G (p.Lys223Arg)
2g.73640961T>GCA347286022NAT8c.668A>C (p.Lys223Thr)
2g.73640962T>ACA347286026NAT8c.667A>T (p.Lys223Ter)
2g.73640962T>CCA347286028NAT8c.667A>G (p.Lys223Glu)
2g.73640962T>GCA50370854NAT8c.667A>C (p.Lys223Gln)
dbSNP gnomAD v4
2g.73640962T=CA1261057090NAT8c.667A= (p.Lys223=)
2g.73640962_73640965delinsTAGACA1261057089NAT8c.664_667delinsTCTA (p.Ser222=)
2g.73640963A>CCA427024255NAT8c.666T>G (p.Ser222=)
2g.73640963A>GCA427024256NAT8c.666T>C (p.Ser222=)
2g.73640963A>TCA427024258NAT8c.666T>A (p.Ser222=)
2g.73640968_73640970delCA892867001NAT8c.664_666del (p.Ser222del)
dbSNP gnomAD v3 gnomAD v4
2g.73640964G>ACA347286031NAT8c.665C>T (p.Ser222Phe)
dbSNP COSMIC
2g.73640964G>CCA347286032NAT8c.665C>G (p.Ser222Cys)
2g.73640964G=CA1261057091NAT8c.665C= (p.Ser222=)
2g.73640964G>TCA347286033NAT8c.665C>A (p.Ser222Tyr)
gnomAD v4
2g.73640965A=CA1261057092NAT8c.664T= (p.Ser222=)
2g.73640965A>CCA50370855NAT8c.664T>G (p.Ser222Ala)
dbSNP
2g.73640965A>GCA347286037NAT8c.664T>C (p.Ser222Pro)
2g.73640965A>TCA347286039NAT8c.664T>A (p.Ser222Thr)
2g.73640966A>CCA427024261NAT8c.663T>G (p.Ser221=)
2g.73640966A>GCA427024262NAT8c.663T>C (p.Ser221=)
2g.73640966A>TCA427024263NAT8c.663T>A (p.Ser221=)
2g.73640967G>ACA50370857NAT8c.662C>T (p.Ser221Phe)
dbSNP gnomAD v4
2g.73640967G>CCA347286042NAT8c.662C>G (p.Ser221Cys)
2g.73640967G=CA1261057093NAT8c.662C= (p.Ser221=)
2g.73640967G>TCA1715634NAT8c.662C>A (p.Ser221Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640968A>CCA347286044NAT8c.661T>G (p.Ser221Ala)
2g.73640968A>GCA347286045NAT8c.661T>C (p.Ser221Pro)
COSMIC
2g.73640968A>TCA347286046NAT8c.661T>A (p.Ser221Thr)
2g.73640969A>CCA427024267NAT8c.660T>G (p.Pro220=)
2g.73640969A>GCA427024268NAT8c.660T>C (p.Pro220=)
2g.73640969A>TCA427024269NAT8c.660T>A (p.Pro220=)
2g.73640970G>ACA347286048NAT8c.659C>T (p.Pro220Leu)
2g.73640970G>CCA347286051NAT8c.659C>G (p.Pro220Arg)
gnomAD v4
2g.73640970G>TCA347286049NAT8c.659C>A (p.Pro220His)
2g.73640971_73640978delCA2577005384NAT8c.652_659del (p.His218PhefsTer3)
2g.73640971G>ACA347286053NAT8c.658C>T (p.Pro220Ser)
2g.73640971G>CCA1715635NAT8c.658C>G (p.Pro220Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640971G=CA1261057094NAT8c.658C= (p.Pro220=)
2g.73640971G>TCA347286056NAT8c.658C>A (p.Pro220Thr)
gnomAD v4
2g.73640972G>ACA1715636NAT8c.657C>T (p.Leu219=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640972G>CCA50370882NAT8c.657C>G (p.Leu219=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73640972G=CA1261057095NAT8c.657C= (p.Leu219=)
2g.73640972G>TCA427024270NAT8c.657C>A (p.Leu219=)
2g.73640973A>CCA347286060NAT8c.656T>G (p.Leu219Arg)
2g.73640973A>GCA347286061NAT8c.656T>C (p.Leu219Pro)
2g.73640973A>TCA347286062NAT8c.656T>A (p.Leu219His)
2g.73640974G>ACA347286064NAT8c.655C>T (p.Leu219Phe)
2g.73640974G>CCA347286066NAT8c.655C>G (p.Leu219Val)
2g.73640974G>TCA347286068NAT8c.655C>A (p.Leu219Ile)
2g.73640975G>ACA427024274NAT8c.654C>T (p.His218=)
dbSNP gnomAD v3 gnomAD v4
2g.73640975G>CCA347286072NAT8c.654C>G (p.His218Gln)
2g.73640975G=CA1261057096NAT8c.654C= (p.His218=)
2g.73640975G>TCA347286071NAT8c.654C>A (p.His218Gln)
gnomAD v4
2g.73640976T>ACA347286074NAT8c.653A>T (p.His218Leu)
2g.73640976T>CCA347286076NAT8c.653A>G (p.His218Arg)
gnomAD v4
2g.73640976T>GCA347286078NAT8c.653A>C (p.His218Pro)
2g.73640977G>ACA347286080NAT8c.652C>T (p.His218Tyr)
dbSNP gnomAD v4
2g.73640977G>CCA347286082NAT8c.652C>G (p.His218Asp)
2g.73640977G=CA1261057097NAT8c.652C= (p.His218=)
2g.73640977G>TCA347286084NAT8c.652C>A (p.His218Asn)
2g.73640978G>ACA1715637NAT8c.651C>T (p.Tyr217=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640978G>CCA347286087NAT8c.651C>G (p.Tyr217Ter)
2g.73640978G=CA1261057098NAT8c.651C= (p.Tyr217=)
2g.73640978G>TCA347286089NAT8c.651C>A (p.Tyr217Ter)
gnomAD v4
2g.73640979T>ACA347286091NAT8c.650A>T (p.Tyr217Phe)
gnomAD v4
2g.73640979T>CCA347286093NAT8c.650A>G (p.Tyr217Cys)
2g.73640979T>GCA347286096NAT8c.650A>C (p.Tyr217Ser)
2g.73640980A>CCA347286099NAT8c.649T>G (p.Tyr217Asp)
2g.73640980A>GCA347286101NAT8c.649T>C (p.Tyr217His)
gnomAD v4
2g.73640980A>TCA347286098NAT8c.649T>A (p.Tyr217Asn)
2g.73640981G>ACA427024279NAT8c.648C>T (p.Ile216=)
2g.73640981G>CCA347286103NAT8c.648C>G (p.Ile216Met)
2g.73640981G>TCA427024280NAT8c.648C>A (p.Ile216=)
2g.73640981_73640986delinsGATGAACA1261057099NAT8c.643_648delinsTTCATC (p.Phe215=)
2g.73640982A>CCA347286106NAT8c.647T>G (p.Ile216Ser)
2g.73640982A>GCA347286108NAT8c.647T>C (p.Ile216Thr)
2g.73640982A>TCA347286110NAT8c.647T>A (p.Ile216Asn)
2g.73640987_73640991delCA1715638NAT8c.643_647del (p.Phe215LeufsTer7)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640983T>ACA347286119NAT8c.646A>T (p.Ile216Phe)
2g.73640983T>CCA347286112NAT8c.646A>G (p.Ile216Val)
2g.73640983T>GCA347286116NAT8c.646A>C (p.Ile216Leu)
2g.73640984G>ACA427024287NAT8c.645C>T (p.Phe215=)
2g.73640984G>CCA347286121NAT8c.645C>G (p.Phe215Leu)
2g.73640984G>TCA347286124NAT8c.645C>A (p.Phe215Leu)
2g.73640985A>CCA347286130NAT8c.644T>G (p.Phe215Cys)
2g.73640985A>GCA347286133NAT8c.644T>C (p.Phe215Ser)
2g.73640985A>TCA347286136NAT8c.644T>A (p.Phe215Tyr)
2g.73640986A>CCA347286146NAT8c.643T>G (p.Phe215Val)
gnomAD v4
2g.73640986A>GCA347286143NAT8c.643T>C (p.Phe215Leu)
2g.73640986A>TCA347286140NAT8c.643T>A (p.Phe215Ile)
2g.73640987A>CCA347286150NAT8c.642T>G (p.His214Gln)
2g.73640987A>GCA427024290NAT8c.642T>C (p.His214=)
2g.73640987A>TCA347286152NAT8c.642T>A (p.His214Gln)
2g.73640988T>ACA347286155NAT8c.641A>T (p.His214Leu)
2g.73640988T>CCA1715639NAT8c.641A>G (p.His214Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640988T>GCA347286160NAT8c.641A>C (p.His214Pro)
2g.73640988T=CA1261057100NAT8c.641A= (p.His214=)
2g.73640989G>ACA1715640NAT8c.640C>T (p.His214Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640989G>CCA347286166NAT8c.640C>G (p.His214Asp)
2g.73640989G=CA1261057101NAT8c.640C= (p.His214=)
2g.73640989G>TCA347286170NAT8c.640C>A (p.His214Asn)
dbSNP gnomAD v4
2g.73640990A>CCA427024294NAT8c.639T>G (p.Val213=)
2g.73640990A>GCA427024296NAT8c.639T>C (p.Val213=)
2g.73640990A>TCA427024295NAT8c.639T>A (p.Val213=)
2g.73640991A=CA1261057102NAT8c.638T= (p.Val213=)
2g.73640991A>CCA347286174NAT8c.638T>G (p.Val213Gly)
2g.73640991A>GCA347286177NAT8c.638T>C (p.Val213Ala)
dbSNP gnomAD v4
2g.73640991A>TCA347286179NAT8c.638T>A (p.Val213Asp)
2g.73640992C>ACA347286184NAT8c.637G>T (p.Val213Phe)
2g.73640992C>GCA347286187NAT8c.637G>C (p.Val213Leu)
2g.73640992C>TCA347286191NAT8c.637G>A (p.Val213Ile)
2g.73640993T>ACA427024301NAT8c.636A>T (p.Thr212=)
2g.73640993T>CCA427024302NAT8c.636A>G (p.Thr212=)
2g.73640993T>GCA427024303NAT8c.636A>C (p.Thr212=)
2g.73640994G>ACA347286200NAT8c.635C>T (p.Thr212Ile)
gnomAD v4
2g.73640994G>CCA347286198NAT8c.635C>G (p.Thr212Arg)
2g.73640994G=CA1261057103NAT8c.635C= (p.Thr212=)
2g.73640994G>TCA347286195NAT8c.635C>A (p.Thr212Lys)
2g.73640995T>ACA347286211NAT8c.634A>T (p.Thr212Ser)
2g.73640995T>CCA347286214NAT8c.634A>G (p.Thr212Ala)
2g.73640995T>GCA347286217NAT8c.634A>C (p.Thr212Pro)
2g.73640995dupCA1715641NAT8c.634dup (p.Thr212AsnfsTer12)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched