Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.91055439_91055446dupCA6716495KERAc.837_844dup (p.Ala282GlufsTer19)
dbSNP ExAC gnomAD v4
12g.91055445T>ACA481306387KERAc.837A>T (p.Arg279=)
12g.91055445T>CCA481306388KERAc.837A>G (p.Arg279=)
dbSNP
12g.91055445T>GCA481306389KERAc.837A>C (p.Arg279=)
12g.91055445T=CA2054259617KERAc.837A= (p.Arg279=)
12g.91055446C>ACA386013251KERAc.836G>T (p.Arg279Leu)
12g.91055446C=CA2054259618KERAc.836G= (p.Arg279=)
12g.91055446C>GCA386013250KERAc.836G>C (p.Arg279Pro)
12g.91055446C>TCA6716496KERAc.836G>A (p.Arg279Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.91055447G>ACA144359KERAc.835C>T (p.Arg279Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055447G>CCA386013252KERAc.835C>G (p.Arg279Gly)
12g.91055447G=CA2054259619KERAc.835C= (p.Arg279=)
12g.91055447G>TCA481306393KERAc.835C>A (p.Arg279=)
12g.91055450delCA2620149234KERAc.835del (p.Arg279GlufsTer19)
gnomAD v4
12g.91055448G>ACA481306394KERAc.834C>T (p.Pro278=)
gnomAD v4
12g.91055448G>CCA481306396KERAc.834C>G (p.Pro278=)
12g.91055448G>TCA481306395KERAc.834C>A (p.Pro278=)
12g.91055449G>ACA386013253KERAc.833C>T (p.Pro278Leu)
dbSNP
12g.91055449G>CCA386013254KERAc.833C>G (p.Pro278Arg)
12g.91055449G=CA2054259620KERAc.833C= (p.Pro278=)
12g.91055449G>TCA386013255KERAc.833C>A (p.Pro278His)
12g.91055450G>ACA6716497KERAc.832C>T (p.Pro278Ser)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.91055450G>CCA386013256KERAc.832C>G (p.Pro278Ala)
12g.91055450G=CA2054259621KERAc.832C= (p.Pro278=)
12g.91055450G>TCA386013257KERAc.832C>A (p.Pro278Thr)
12g.91055451A>CCA481306398KERAc.831T>G (p.Val277=)
12g.91055451A>GCA481306399KERAc.831T>C (p.Val277=)
12g.91055451A>TCA481306400KERAc.831T>A (p.Val277=)
12g.91055452A>CCA386013258KERAc.830T>G (p.Val277Gly)
12g.91055452A>GCA386013259KERAc.830T>C (p.Val277Ala)
12g.91055452A>TCA386013260KERAc.830T>A (p.Val277Asp)
12g.91055453C>ACA6716499KERAc.829G>T (p.Val277Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055453C=CA2054259622KERAc.829G= (p.Val277=)
12g.91055453C>GCA386013261KERAc.829G>C (p.Val277Leu)
dbSNP gnomAD v3 gnomAD v4
12g.91055453C>TCA6716498KERAc.829G>A (p.Val277Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055454C>ACA6716500KERAc.828G>T (p.Lys276Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055454C=CA2054259623KERAc.828G= (p.Lys276=)
12g.91055454C>GCA6716502KERAc.828G>C (p.Lys276Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055454C>TCA6716501KERAc.828G>A (p.Lys276=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055455T>ACA386013262KERAc.827A>T (p.Lys276Met)
12g.91055455T>CCA386013263KERAc.827A>G (p.Lys276Arg)
12g.91055455T>GCA386013264KERAc.827A>C (p.Lys276Thr)
12g.91055456T>ACA386013265KERAc.826A>T (p.Lys276Ter)
12g.91055456T>CCA386013266KERAc.826A>G (p.Lys276Glu)
gnomAD v4
12g.91055456T>GCA386013267KERAc.826A>C (p.Lys276Gln)
12g.91055457T>ACA481306407KERAc.825A>T (p.Thr275=)
12g.91055457T>CCA481306405KERAc.825A>G (p.Thr275=)
12g.91055457T>GCA481306406KERAc.825A>C (p.Thr275=)
12g.91055458G>ACA386013268KERAc.824C>T (p.Thr275Ile)
gnomAD v4
12g.91055458G>CCA386013269KERAc.824C>G (p.Thr275Arg)
dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.91055458G=CA2054259624KERAc.824C= (p.Thr275=)
12g.91055458G>TCA386013270KERAc.824C>A (p.Thr275Lys)
COSMIC
12g.91055459T>ACA386013271KERAc.823A>T (p.Thr275Ser)
12g.91055459T>CCA386013273KERAc.823A>G (p.Thr275Ala)
12g.91055459T>GCA386013272KERAc.823A>C (p.Thr275Pro)
gnomAD v4
12g.91055460G>ACA481306417KERAc.822C>T (p.Leu274=)
dbSNP
12g.91055460G>CCA481306418KERAc.822C>G (p.Leu274=)
12g.91055460G>TCA481306420KERAc.822C>A (p.Leu274=)
12g.91055461A>CCA386013274KERAc.821T>G (p.Leu274Arg)
12g.91055461A>GCA386013275KERAc.821T>C (p.Leu274Pro)
12g.91055461A>TCA386013276KERAc.821T>A (p.Leu274His)
gnomAD v4
12g.91055462G>ACA386013277KERAc.820C>T (p.Leu274Phe)
12g.91055462G>CCA386013278KERAc.820C>G (p.Leu274Val)
12g.91055462G>TCA386013279KERAc.820C>A (p.Leu274Ile)
12g.91055463T>ACA386013280KERAc.819A>T (p.Gln273His)
12g.91055463T>CCA241201216KERAc.819A>G (p.Gln273=)
dbSNP gnomAD v4
12g.91055463T>GCA386013281KERAc.819A>C (p.Gln273His)
12g.91055463T=CA2054259625KERAc.819A= (p.Gln273=)
12g.91055464T>ACA386013282KERAc.818A>T (p.Gln273Leu)
12g.91055464T>CCA386013284KERAc.818A>G (p.Gln273Arg)
12g.91055464T>GCA386013283KERAc.818A>C (p.Gln273Pro)
12g.91055465G>ACA386013285KERAc.817C>T (p.Gln273Ter)
12g.91055465G>CCA386013287KERAc.817C>G (p.Gln273Glu)
12g.91055465G>TCA386013286KERAc.817C>A (p.Gln273Lys)
12g.91055466A=CA2054259626KERAc.816T= (p.Asn272=)
12g.91055466A>CCA386013288KERAc.816T>G (p.Asn272Lys)
12g.91055466A>GCA481306430KERAc.816T>C (p.Asn272=)
12g.91055466A>TCA386013289KERAc.816T>A (p.Asn272Lys)
dbSNP gnomAD v2 gnomAD v4
12g.91055467T>ACA386013290KERAc.815A>T (p.Asn272Ile)
12g.91055467T>CCA386013291KERAc.815A>G (p.Asn272Ser)
dbSNP gnomAD v2 gnomAD v4
12g.91055467T>GCA386013292KERAc.815A>C (p.Asn272Thr)
12g.91055467T=CA2054259627KERAc.815A= (p.Asn272=)
12g.91055468T>ACA386013293KERAc.814A>T (p.Asn272Tyr)
12g.91055468T>CCA386013294KERAc.814A>G (p.Asn272Asp)
gnomAD v4
12g.91055468T>GCA386013295KERAc.814A>C (p.Asn272His)
12g.91055469G>ACA481306435KERAc.813C>T (p.His271=)
gnomAD v4
12g.91055469G>CCA386013296KERAc.813C>G (p.His271Gln)
12g.91055469G>TCA386013297KERAc.813C>A (p.His271Gln)
12g.91055470T>ACA386013300KERAc.812A>T (p.His271Leu)
12g.91055470T>CCA386013298KERAc.812A>G (p.His271Arg)
gnomAD v4
12g.91055470T>GCA386013299KERAc.812A>C (p.His271Pro)
12g.91055471G>ACA386013301KERAc.811C>T (p.His271Tyr)
12g.91055471G>CCA386013302KERAc.811C>G (p.His271Asp)
12g.91055471G>TCA386013303KERAc.811C>A (p.His271Asn)
12g.91055472C>ACA6716504KERAc.810G>T (p.Ser270=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055472C=CA2054259628KERAc.810G= (p.Ser270=)
12g.91055472C>GCA481306440KERAc.810G>C (p.Ser270=)
dbSNP gnomAD v3 gnomAD v4
12g.91055472C>TCA6716503KERAc.810G>A (p.Ser270=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055473G>ACA6716505KERAc.809C>T (p.Ser270Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.91055473G>CCA386013304KERAc.809C>G (p.Ser270Trp)
dbSNP
12g.91055473G=CA2054259629KERAc.809C= (p.Ser270=)
12g.91055473G>TCA386013305KERAc.809C>A (p.Ser270Ter)
12g.91055474A=CA2054259630KERAc.808T= (p.Ser270=)
12g.91055474A>CCA241201223KERAc.808T>G (p.Ser270Ala)
dbSNP
12g.91055474A>GCA386013307KERAc.808T>C (p.Ser270Pro)
12g.91055474A>TCA386013306KERAc.808T>A (p.Ser270Thr)
12g.91055475C>ACA481306447KERAc.807G>T (p.Leu269=)
dbSNP gnomAD v3 gnomAD v4
12g.91055475C=CA2054259631KERAc.807G= (p.Leu269=)
12g.91055475C>GCA481306448KERAc.807G>C (p.Leu269=)
12g.91055475C>TCA241201233KERAc.807G>A (p.Leu269=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055476A>CCA386013308KERAc.806T>G (p.Leu269Arg)
12g.91055476A>GCA386013309KERAc.806T>C (p.Leu269Pro)
12g.91055476A>TCA386013310KERAc.806T>A (p.Leu269Gln)
12g.91055477G>ACA481306450KERAc.805C>T (p.Leu269=)
12g.91055477G>CCA386013311KERAc.805C>G (p.Leu269Val)
12g.91055477G>TCA386013312KERAc.805C>A (p.Leu269Met)
12g.91055478T>ACA386013313KERAc.804A>T (p.Gln268His)
dbSNP
12g.91055478T>CCA241201239KERAc.804A>G (p.Gln268=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055478T>GCA386013314KERAc.804A>C (p.Gln268His)
12g.91055478T=CA2054259632KERAc.804A= (p.Gln268=)
12g.91055479T>ACA386013315KERAc.803A>T (p.Gln268Leu)
12g.91055479T>CCA386013316KERAc.803A>G (p.Gln268Arg)
12g.91055479T>GCA386013317KERAc.803A>C (p.Gln268Pro)
12g.91055480G>ACA386013318KERAc.802C>T (p.Gln268Ter)
12g.91055480G>CCA386013320KERAc.802C>G (p.Gln268Glu)
12g.91055480G>TCA386013319KERAc.802C>A (p.Gln268Lys)
12g.91055481A>CCA481306458KERAc.801T>G (p.Leu267=)
12g.91055481A>GCA481306459KERAc.801T>C (p.Leu267=)
COSMIC
12g.91055481A>TCA481306461KERAc.801T>A (p.Leu267=)
12g.91055482A>CCA386013321KERAc.800T>G (p.Leu267Arg)
12g.91055482A>GCA386013322KERAc.800T>C (p.Leu267Pro)
12g.91055482A>TCA386013323KERAc.800T>A (p.Leu267His)
12g.91055483G>ACA241201245KERAc.799C>T (p.Leu267Phe)
dbSNP gnomAD v4
12g.91055483G>CCA386013324KERAc.799C>G (p.Leu267Val)
gnomAD v4
12g.91055483G=CA2054259633KERAc.799C= (p.Leu267=)
12g.91055483G>TCA386013325KERAc.799C>A (p.Leu267Ile)
gnomAD v4
12g.91055484A>CCA386013326KERAc.798T>G (p.Asp266Glu)
12g.91055484A>GCA481306468KERAc.798T>C (p.Asp266=)
gnomAD v4
12g.91055484A>TCA386013327KERAc.798T>A (p.Asp266Glu)
12g.91055485T>ACA386013328KERAc.797A>T (p.Asp266Val)
12g.91055485T>CCA6716506KERAc.797A>G (p.Asp266Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055485T>GCA386013329KERAc.797A>C (p.Asp266Ala)
12g.91055485T=CA2054259634KERAc.797A= (p.Asp266=)
12g.91055486C>ACA386013330KERAc.796G>T (p.Asp266Tyr)
dbSNP gnomAD v3 gnomAD v4
12g.91055486C=CA2054259635KERAc.796G= (p.Asp266=)
12g.91055486C>GCA386013331KERAc.796G>C (p.Asp266His)
12g.91055486C>TCA386013332KERAc.796G>A (p.Asp266Asn)
12g.91055487T>ACA481306475KERAc.795A>T (p.Leu265=)
12g.91055487T>CCA481306476KERAc.795A>G (p.Leu265=)
dbSNP gnomAD v2 gnomAD v4
12g.91055487T>GCA481306477KERAc.795A>C (p.Leu265=)
12g.91055487T=CA2054259636KERAc.795A= (p.Leu265=)
12g.91055488A=CA2054259637KERAc.794T= (p.Leu265=)
12g.91055488A>CCA386013333KERAc.794T>G (p.Leu265Arg)
12g.91055488A>GCA6716507KERAc.794T>C (p.Leu265Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055488A>TCA386013334KERAc.794T>A (p.Leu265Gln)
12g.91055489G>ACA481306478KERAc.793C>T (p.Leu265=)
12g.91055489G>CCA386013335KERAc.793C>G (p.Leu265Val)
12g.91055489G>TCA386013336KERAc.793C>A (p.Leu265Ile)
12g.91055490A=CA2054259638KERAc.792T= (p.Ile264=)
12g.91055490A>CCA386013337KERAc.792T>G (p.Ile264Met)
12g.91055490A>GCA481306480KERAc.792T>C (p.Ile264=)
12g.91055490A>TCA6716508KERAc.792T>A (p.Ile264=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055491A>CCA386013338KERAc.791T>G (p.Ile264Ser)
12g.91055491A>GCA386013339KERAc.791T>C (p.Ile264Thr)
12g.91055491A>TCA386013340KERAc.791T>A (p.Ile264Asn)
12g.91055492T>ACA386013341KERAc.790A>T (p.Ile264Phe)
12g.91055492T>CCA6716509KERAc.790A>G (p.Ile264Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055492T>GCA386013342KERAc.790A>C (p.Ile264Leu)
12g.91055492T=CA2054259639KERAc.790A= (p.Ile264=)
12g.91055493T>ACA481306483KERAc.789A>T (p.Ser263=)
12g.91055493T>CCA481306484KERAc.789A>G (p.Ser263=)
12g.91055493T>GCA481306486KERAc.789A>C (p.Ser263=)
12g.91055497_91055499delCA2620149235KERAc.787_789del (p.Ser263del)
gnomAD v4
12g.91055494G>ACA241201269KERAc.788C>T (p.Ser263Leu)
dbSNP gnomAD v2 gnomAD v4
12g.91055494G>CCA386013343KERAc.788C>G (p.Ser263Ter)
12g.91055494G=CA2054259640KERAc.788C= (p.Ser263=)
12g.91055494G>TCA386013344KERAc.788C>A (p.Ser263Ter)
12g.91055495A>CCA386013345KERAc.787T>G (p.Ser263Ala)
12g.91055495A>GCA386013346KERAc.787T>C (p.Ser263Pro)
12g.91055495A>TCA386013347KERAc.787T>A (p.Ser263Thr)
12g.91055496T>ACA6716510KERAc.786A>T (p.Ser262=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055496T>CCA481306490KERAc.786A>G (p.Ser262=)
dbSNP gnomAD v4
12g.91055496T>GCA481306491KERAc.786A>C (p.Ser262=)
12g.91055496T=CA2054259641KERAc.786A= (p.Ser262=)
12g.91055497G>ACA386013348KERAc.785C>T (p.Ser262Leu)
12g.91055497G>CCA386013349KERAc.785C>G (p.Ser262Ter)
12g.91055497G>TCA386013350KERAc.785C>A (p.Ser262Ter)
12g.91055498A>CCA386013351KERAc.784T>G (p.Ser262Ala)
12g.91055498A>GCA386013353KERAc.784T>C (p.Ser262Pro)
12g.91055498A>TCA386013352KERAc.784T>A (p.Ser262Thr)
12g.91055499T>ACA481306496KERAc.783A>T (p.Val261=)
12g.91055499T>CCA481306493KERAc.783A>G (p.Val261=)
12g.91055499T>GCA481306495KERAc.783A>C (p.Val261=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055499T=CA2054259642KERAc.783A= (p.Val261=)
12g.91055500A=CA2054259643KERAc.782T= (p.Val261=)
12g.91055500A>CCA386013354KERAc.782T>G (p.Val261Gly)
12g.91055500A>GCA386013355KERAc.782T>C (p.Val261Ala)
dbSNP COSMIC
12g.91055500A>TCA386013356KERAc.782T>A (p.Val261Glu)
dbSNP gnomAD v3 gnomAD v4
12g.91055501C>ACA386013357KERAc.781G>T (p.Val261Leu)
12g.91055501C>GCA386013358KERAc.781G>C (p.Val261Leu)
12g.91055501C>TCA386013359KERAc.781G>A (p.Val261Ile)
gnomAD v4
12g.91055502A=CA2054259644KERAc.780T= (p.Asp260=)
12g.91055502A>CCA386013360KERAc.780T>G (p.Asp260Glu)
dbSNP
12g.91055502A>GCA481306501KERAc.780T>C (p.Asp260=)
12g.91055502A>TCA386013361KERAc.780T>A (p.Asp260Glu)
12g.91055503T>ACA386013362KERAc.779A>T (p.Asp260Val)
dbSNP
12g.91055503T>CCA386013363KERAc.779A>G (p.Asp260Gly)
dbSNP
12g.91055503T>GCA386013364KERAc.779A>C (p.Asp260Ala)
12g.91055503T=CA2054259645KERAc.779A= (p.Asp260=)
12g.91055505_91055512delCA2695217070KERAc.772_779del (p.Gly258CysfsTer30)
12g.91055504C>ACA6716511KERAc.778G>T (p.Asp260Tyr)
dbSNP ExAC
12g.91055504C=CA2054259646KERAc.778G= (p.Asp260=)
12g.91055504C>GCA386013365KERAc.778G>C (p.Asp260His)
gnomAD v4
12g.91055504C>TCA386013366KERAc.778G>A (p.Asp260Asn)
12g.91055505A=CA2054259647KERAc.777T= (p.Phe259=)
12g.91055505A>CCA386013367KERAc.777T>G (p.Phe259Leu)
dbSNP
12g.91055505A>GCA6716512KERAc.777T>C (p.Phe259=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055505A>TCA386013368KERAc.777T>A (p.Phe259Leu)
12g.91055506A>CCA386013369KERAc.776T>G (p.Phe259Cys)
12g.91055506A>GCA386013370KERAc.776T>C (p.Phe259Ser)
12g.91055506A>TCA386013371KERAc.776T>A (p.Phe259Tyr)
12g.91055507A>CCA386013372KERAc.775T>G (p.Phe259Val)
12g.91055507A>GCA386013373KERAc.775T>C (p.Phe259Leu)
12g.91055507A>TCA386013374KERAc.775T>A (p.Phe259Ile)
gnomAD v4
12g.91055508T>ACA481306510KERAc.774A>T (p.Gly258=)
12g.91055508T>CCA481306511KERAc.774A>G (p.Gly258=)
12g.91055508T>GCA481306512KERAc.774A>C (p.Gly258=)
12g.91055509C>ACA386013377KERAc.773G>T (p.Gly258Val)
12g.91055509C>GCA386013375KERAc.773G>C (p.Gly258Ala)
12g.91055509C>TCA386013376KERAc.773G>A (p.Gly258Glu)
gnomAD v4
12g.91055510C>ACA386013378KERAc.772G>T (p.Gly258Ter)
12g.91055510C=CA2054259648KERAc.772G= (p.Gly258=)
12g.91055510C>GCA386013379KERAc.772G>C (p.Gly258Arg)
12g.91055510C>TCA386013380KERAc.772G>A (p.Gly258Arg)
dbSNP
12g.91055511T>ACA386013381KERAc.771A>T (p.Arg257Ser)
12g.91055511T>CCA481306518KERAc.771A>G (p.Arg257=)
12g.91055511T>GCA386013382KERAc.771A>C (p.Arg257Ser)
12g.91055512C>ACA386013383KERAc.770G>T (p.Arg257Ile)
12g.91055512C>GCA386013384KERAc.770G>C (p.Arg257Thr)
12g.91055512C>TCA386013385KERAc.770G>A (p.Arg257Lys)
gnomAD v4
12g.91055513T>ACA386013386KERAc.769A>T (p.Arg257Ter)
12g.91055513T>CCA386013387KERAc.769A>G (p.Arg257Gly)
gnomAD v4
12g.91055513T>GCA481306523KERAc.769A>C (p.Arg257=)
12g.91055513_91055514delCA2620149236KERAc.768_769del (p.Gly258IlefsTer2)
gnomAD v4
12g.91055514T>ACA481306524KERAc.768A>T (p.Ser256=)
12g.91055514T>CCA481306526KERAc.768A>G (p.Ser256=)
gnomAD v4
12g.91055514T>GCA481306527KERAc.768A>C (p.Ser256=)
gnomAD v4
12g.91055515G>ACA386013388KERAc.767C>T (p.Ser256Leu)
COSMIC
12g.91055515G>CCA6716514KERAc.767C>G (p.Ser256Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055515G=CA2054259649KERAc.767C= (p.Ser256=)
12g.91055515G>TCA6716513KERAc.767C>A (p.Ser256Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055516A=CA2054259650KERAc.766T= (p.Ser256=)
12g.91055516A>CCA386013389KERAc.766T>G (p.Ser256Ala)
dbSNP gnomAD v3 gnomAD v4
12g.91055516A>GCA386013391KERAc.766T>C (p.Ser256Pro)
dbSNP gnomAD v3 gnomAD v4
12g.91055516A>TCA386013390KERAc.766T>A (p.Ser256Thr)
12g.91055517T>ACA481306534KERAc.765A>T (p.Pro255=)
12g.91055517T>CCA481306535KERAc.765A>G (p.Pro255=)
12g.91055517T>GCA481306536KERAc.765A>C (p.Pro255=)
12g.91055518G>ACA386013392KERAc.764C>T (p.Pro255Leu)
12g.91055518G>CCA386013393KERAc.764C>G (p.Pro255Arg)
12g.91055518G>TCA386013394KERAc.764C>A (p.Pro255Gln)
12g.91055519G>ACA386013395KERAc.763C>T (p.Pro255Ser)
12g.91055519G>CCA386013396KERAc.763C>G (p.Pro255Ala)
12g.91055519G>TCA386013397KERAc.763C>A (p.Pro255Thr)
12g.91055520G>ACA481306539KERAc.762C>T (p.Leu254=)
gnomAD v4
12g.91055520G>CCA481306540KERAc.762C>G (p.Leu254=)
12g.91055520G>TCA481306543KERAc.762C>A (p.Leu254=)
12g.91055521A=CA2054259651KERAc.761T= (p.Leu254=)
12g.91055521A>CCA386013398KERAc.761T>G (p.Leu254Arg)
dbSNP gnomAD v4
12g.91055521A>GCA386013399KERAc.761T>C (p.Leu254Pro)
COSMIC
12g.91055521A>TCA386013400KERAc.761T>A (p.Leu254His)
12g.91055522G>ACA6716515KERAc.760C>T (p.Leu254Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055522G>CCA386013401KERAc.760C>G (p.Leu254Val)
12g.91055522G=CA2054259652KERAc.760C= (p.Leu254=)
12g.91055522G>TCA386013402KERAc.760C>A (p.Leu254Ile)
dbSNP
12g.91055523A>CCA481306550KERAc.759T>G (p.Gly253=)
12g.91055523A>GCA481306551KERAc.759T>C (p.Gly253=)
12g.91055523A>TCA481306552KERAc.759T>A (p.Gly253=)
gnomAD v4
12g.91055524C>ACA386013403KERAc.758G>T (p.Gly253Val)
dbSNP gnomAD v2 gnomAD v4
12g.91055524C=CA2054259654KERAc.758G= (p.Gly253=)
12g.91055524C>GCA386013404KERAc.758G>C (p.Gly253Ala)
12g.91055524C>TCA241201288KERAc.758G>A (p.Gly253Asp)
dbSNP
12g.91055525_91055528delCA2620149237KERAc.755_758del (p.Glu252ValfsTer13)
gnomAD v4
12g.91055524_91055534delinsCCCTCATCTGACA2054259653KERAc.748_758delinsTCAGATGAGGG (p.Ser250=)
12g.91055525C>ACA386013405KERAc.757G>T (p.Gly253Cys)
12g.91055525C>GCA386013406KERAc.757G>C (p.Gly253Arg)
gnomAD v4
12g.91055525C>TCA386013407KERAc.757G>A (p.Gly253Ser)
12g.91055526_91055535delCA2054259655KERAc.748_757del (p.Ser250ValfsTer13)
dbSNP
12g.91055526C>ACA386013408KERAc.756G>T (p.Glu252Asp)
12g.91055526C=CA2054259656KERAc.756G= (p.Glu252=)
12g.91055526C>GCA386013409KERAc.756G>C (p.Glu252Asp)
12g.91055526C>TCA241201298KERAc.756G>A (p.Glu252=)
dbSNP gnomAD v3 gnomAD v4
12g.91055527T>ACA386013410KERAc.755A>T (p.Glu252Val)
12g.91055527T>CCA386013411KERAc.755A>G (p.Glu252Gly)
12g.91055527T>GCA386013412KERAc.755A>C (p.Glu252Ala)
12g.91055528C>ACA386013413KERAc.754G>T (p.Glu252Ter)
12g.91055528C=CA2054259657KERAc.754G= (p.Glu252=)
12g.91055528C>GCA386013415KERAc.754G>C (p.Glu252Gln)
12g.91055528C>TCA386013414KERAc.754G>A (p.Glu252Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055529A>CCA386013416KERAc.753T>G (p.Asp251Glu)
12g.91055529A>GCA481306568KERAc.753T>C (p.Asp251=)
gnomAD v4
12g.91055529A>TCA386013417KERAc.753T>A (p.Asp251Glu)
12g.91055530T>ACA386013418KERAc.752A>T (p.Asp251Val)
12g.91055530T>CCA386013419KERAc.752A>G (p.Asp251Gly)
12g.91055530T>GCA386013420KERAc.752A>C (p.Asp251Ala)
12g.91055530_91055535delCA2620149238KERAc.747_752del (p.Ser250_Asp251del)
gnomAD v4
12g.91055531C>ACA386013421KERAc.751G>T (p.Asp251Tyr)
COSMIC
12g.91055531C=CA2054259658KERAc.751G= (p.Asp251=)
12g.91055531C>GCA386013422KERAc.751G>C (p.Asp251His)
COSMIC
12g.91055531C>TCA386013423KERAc.751G>A (p.Asp251Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055532T>ACA481306570KERAc.750A>T (p.Ser250=)
12g.91055532T>CCA481306573KERAc.750A>G (p.Ser250=)
12g.91055532T>GCA481306571KERAc.750A>C (p.Ser250=)
12g.91055533G>ACA386013424KERAc.749C>T (p.Ser250Leu)
12g.91055533G>CCA386013426KERAc.749C>G (p.Ser250Ter)
dbSNP
12g.91055533G=CA2054259659KERAc.749C= (p.Ser250=)
12g.91055533G>TCA386013425KERAc.749C>A (p.Ser250Ter)
12g.91055534A=CA2054259660KERAc.748T= (p.Ser250=)
12g.91055534A>CCA386013427KERAc.748T>G (p.Ser250Ala)
12g.91055534A>GCA386013429KERAc.748T>C (p.Ser250Pro)
dbSNP gnomAD v4
12g.91055534A>TCA386013428KERAc.748T>A (p.Ser250Thr)
12g.91055535C>ACA481306577KERAc.747G>T (p.Leu249=)
dbSNP
12g.91055535C=CA2054259661KERAc.747G= (p.Leu249=)
12g.91055535C>GCA481306578KERAc.747G>C (p.Leu249=)
12g.91055535C>TCA481306579KERAc.747G>A (p.Leu249=)
12g.91055536A>CCA386013430KERAc.746T>G (p.Leu249Arg)
12g.91055536A>GCA386013431KERAc.746T>C (p.Leu249Pro)
12g.91055536A>TCA386013432KERAc.746T>A (p.Leu249Gln)
12g.91055537G>ACA481306583KERAc.745C>T (p.Leu249=)
dbSNP gnomAD v2 gnomAD v4
12g.91055537G>CCA6716516KERAc.745C>G (p.Leu249Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055537G=CA2054259662KERAc.745C= (p.Leu249=)
12g.91055537G>TCA386013433KERAc.745C>A (p.Leu249Met)
12g.91055538T>ACA386013434KERAc.744A>T (p.Lys248Asn)
12g.91055538T>CCA481306585KERAc.744A>G (p.Lys248=)
gnomAD v4 COSMIC
12g.91055538T>GCA386013435KERAc.744A>C (p.Lys248Asn)
12g.91055539T>ACA386013436KERAc.743A>T (p.Lys248Ile)
12g.91055539T>CCA386013437KERAc.743A>G (p.Lys248Arg)
gnomAD v4
12g.91055539T>GCA6716517KERAc.743A>C (p.Lys248Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055539T=CA2054259663KERAc.743A= (p.Lys248=)
12g.91055540T>ACA386013440KERAc.742A>T (p.Lys248Ter)
12g.91055540T>CCA386013439KERAc.742A>G (p.Lys248Glu)
dbSNP gnomAD v3 gnomAD v4
12g.91055540T>GCA386013438KERAc.742A>C (p.Lys248Gln)
12g.91055540T=CA2054259664KERAc.742A= (p.Lys248=)
12g.91055541G>ACA6716519KERAc.741C>T (p.Asn247=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055541G>CCA386013441KERAc.741C>G (p.Asn247Lys)
12g.91055541G=CA2054259665KERAc.741C= (p.Asn247=)
12g.91055541G>TCA6716518KERAc.741C>A (p.Asn247Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055542T>ACA386013442KERAc.740A>T (p.Asn247Ile)
12g.91055542T>CCA118319KERAc.740A>G (p.Asn247Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055542T>GCA386013443KERAc.740A>C (p.Asn247Thr)
12g.91055542T=CA2054259666KERAc.740A= (p.Asn247=)
12g.91055543T>ACA386013444KERAc.739A>T (p.Asn247Tyr)
12g.91055543T>CCA386013445KERAc.739A>G (p.Asn247Asp)
ClinVar
12g.91055543T>GCA386013446KERAc.739A>C (p.Asn247His)
12g.91055544G>ACA481306593KERAc.738C>T (p.His246=)
12g.91055544G>CCA386013447KERAc.738C>G (p.His246Gln)
12g.91055544G>TCA386013448KERAc.738C>A (p.His246Gln)
12g.91055545T>ACA386013449KERAc.737A>T (p.His246Leu)
12g.91055545T>CCA6716520KERAc.737A>G (p.His246Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055545T>GCA6716521KERAc.737A>C (p.His246Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055545T=CA2054259667KERAc.737A= (p.His246=)

Number of alleles fetched