Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.206767132A=CA1323320481FASTKD2c.439A= (p.Lys147=)
n.497A=
2g.206767132A>CCA350070899FASTKD2c.439A>C (p.Lys147Gln)
n.497A>C
2g.206767132A>GCA350070902FASTKD2c.439A>G (p.Lys147Glu)
n.497A>G
dbSNP gnomAD v4
2g.206767132A>TCA350070904FASTKD2c.439A>T (p.Lys147Ter)
n.497A>T
2g.206767133A>CCA350070909FASTKD2c.440A>C (p.Lys147Thr)
n.498A>C
2g.206767133A>GCA350070921FASTKD2c.440A>G (p.Lys147Arg)
n.498A>G
2g.206767133A>TCA350070928FASTKD2c.440A>T (p.Lys147Met)
n.498A>T
2g.206767134G>ACA431115223FASTKD2c.441G>A (p.Lys147=)
n.499G>A
2g.206767134G>CCA350070932FASTKD2c.441G>C (p.Lys147Asn)
n.499G>C
2g.206767134G>TCA350070930FASTKD2c.441G>T (p.Lys147Asn)
n.499G>T
gnomAD v4
2g.206767135G>ACA350070935FASTKD2c.442G>A (p.Glu148Lys)
n.500G>A
2g.206767135G>CCA350070938FASTKD2c.442G>C (p.Glu148Gln)
n.500G>C
2g.206767135G>TCA350070941FASTKD2c.442G>T (p.Glu148Ter)
n.500G>T
2g.206767136A>CCA350070944FASTKD2c.443A>C (p.Glu148Ala)
n.501A>C
2g.206767136A>GCA350070947FASTKD2c.443A>G (p.Glu148Gly)
n.501A>G
2g.206767136A>TCA350070949FASTKD2c.443A>T (p.Glu148Val)
n.501A>T
2g.206767138delCA2577223892FASTKD2c.445del (p.Thr149GlnfsTer18)
n.503del
2g.206767137A=CA1323320482FASTKD2c.444A= (p.Glu148=)
n.502A=
2g.206767137A>CCA63709966FASTKD2c.444A>C (p.Glu148Asp)
n.502A>C
dbSNP
2g.206767137A>GCA431115231FASTKD2c.444A>G (p.Glu148=)
n.502A>G
2g.206767137A>TCA350070954FASTKD2c.444A>T (p.Glu148Asp)
n.502A>T
2g.206767138A=CA1323320483FASTKD2c.445A= (p.Thr149=)
n.503A=
2g.206767138A>CCA350070961FASTKD2c.445A>C (p.Thr149Pro)
n.503A>C
2g.206767138A>GCA350070967FASTKD2c.445A>G (p.Thr149Ala)
n.503A>G
2g.206767138A>TCA350070964FASTKD2c.445A>T (p.Thr149Ser)
n.503A>T
dbSNP
2g.206767139C>ACA350070969FASTKD2c.446C>A (p.Thr149Lys)
n.504C>A
2g.206767139C>GCA350070974FASTKD2c.446C>G (p.Thr149Arg)
n.504C>G
2g.206767139C>TCA350070976FASTKD2c.446C>T (p.Thr149Ile)
n.504C>T
2g.206767140A=CA1323320484FASTKD2c.447A= (p.Thr149=)
n.505A=
2g.206767140A>CCA431115241FASTKD2c.447A>C (p.Thr149=)
n.505A>C
dbSNP
2g.206767140A>GCA2074882FASTKD2c.447A>G (p.Thr149=)
n.505A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767140A>TCA431115242FASTKD2c.447A>T (p.Thr149=)
n.505A>T
2g.206767141A>CCA350070988FASTKD2c.448A>C (p.Lys150Gln)
n.506A>C
2g.206767141A>GCA350070993FASTKD2c.448A>G (p.Lys150Glu)
n.506A>G
2g.206767141A>TCA350070991FASTKD2c.448A>T (p.Lys150Ter)
n.506A>T
2g.206767142A>CCA350071000FASTKD2c.449A>C (p.Lys150Thr)
n.507A>C
2g.206767142A>GCA350071003FASTKD2c.449A>G (p.Lys150Arg)
n.507A>G
gnomAD v4
2g.206767142A>TCA350071007FASTKD2c.449A>T (p.Lys150Ile)
n.507A>T
2g.206767143A>CCA350071011FASTKD2c.450A>C (p.Lys150Asn)
n.508A>C
2g.206767143A>GCA431115246FASTKD2c.450A>G (p.Lys150=)
n.508A>G
2g.206767143A>TCA350071015FASTKD2c.450A>T (p.Lys150Asn)
n.508A>T
2g.206767144C>ACA350071016FASTKD2c.451C>A (p.Pro151Thr)
n.509C>A
2g.206767144C>GCA350071017FASTKD2c.451C>G (p.Pro151Ala)
n.509C>G
gnomAD v4
2g.206767144C>TCA350071018FASTKD2c.451C>T (p.Pro151Ser)
n.509C>T
2g.206767145C>ACA350071020FASTKD2c.452C>A (p.Pro151Gln)
n.510C>A
2g.206767145C=CA1323320485FASTKD2c.452C= (p.Pro151=)
n.510C=
2g.206767145C>GCA350071021FASTKD2c.452C>G (p.Pro151Arg)
n.510C>G
2g.206767145C>TCA350071024FASTKD2c.452C>T (p.Pro151Leu)
n.510C>T
ClinVar dbSNP gnomAD v4
2g.206767146A>CCA431115254FASTKD2c.453A>C (p.Pro151=)
n.511A>C
2g.206767146A>GCA431115252FASTKD2c.453A>G (p.Pro151=)
n.511A>G
2g.206767146A>TCA431115253FASTKD2c.453A>T (p.Pro151=)
n.511A>T
2g.206767147A>CCA350071030FASTKD2c.454A>C (p.Asn152His)
n.512A>C
2g.206767147A>GCA350071032FASTKD2c.454A>G (p.Asn152Asp)
n.512A>G
2g.206767147A>TCA350071031FASTKD2c.454A>T (p.Asn152Tyr)
n.512A>T
2g.206767148A>CCA350071033FASTKD2c.455A>C (p.Asn152Thr)
n.513A>C
2g.206767148A>GCA350071037FASTKD2c.455A>G (p.Asn152Ser)
n.513A>G
2g.206767148A>TCA350071034FASTKD2c.455A>T (p.Asn152Ile)
n.513A>T
2g.206767148_206767150delCA2662829149FASTKD2c.455_457del (p.Asn152_Arg153delinsSer)
n.513_515del
gnomAD v4
2g.206767149C>ACA350071040FASTKD2c.456C>A (p.Asn152Lys)
n.514C>A
2g.206767149C=CA1323320486FASTKD2c.456C= (p.Asn152=)
n.514C=
2g.206767149C>GCA350071042FASTKD2c.456C>G (p.Asn152Lys)
n.514C>G
dbSNP
2g.206767149C>TCA63709972FASTKD2c.456C>T (p.Asn152=)
n.514C>T
dbSNP gnomAD v2 gnomAD v4
2g.206767150C>ACA350071046FASTKD2c.457C>A (p.Arg153Ser)
n.515C>A
2g.206767150C=CA1323320487FASTKD2c.457C= (p.Arg153=)
n.515C=
2g.206767150C>GCA350071048FASTKD2c.457C>G (p.Arg153Gly)
n.515C>G
dbSNP gnomAD v2 gnomAD v4
2g.206767150C>TCA2074883FASTKD2c.457C>T (p.Arg153Cys)
n.515C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767151G>ACA2074884FASTKD2c.458G>A (p.Arg153His)
n.516G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767151G>CCA350071059FASTKD2c.458G>C (p.Arg153Pro)
n.516G>C
2g.206767151G=CA1323320488FASTKD2c.458G= (p.Arg153=)
n.516G=
2g.206767151G>TCA350071060FASTKD2c.458G>T (p.Arg153Leu)
n.516G>T
gnomAD v4
2g.206767152T>ACA431115266FASTKD2c.459T>A (p.Arg153=)
n.517T>A
2g.206767152T>CCA431115264FASTKD2c.459T>C (p.Arg153=)
n.517T>C
2g.206767152T>GCA431115268FASTKD2c.459T>G (p.Arg153=)
n.517T>G
2g.206767153A>CCA350071063FASTKD2c.460A>C (p.Ile154Leu)
n.518A>C
2g.206767153A>GCA350071066FASTKD2c.460A>G (p.Ile154Val)
n.518A>G
2g.206767153A>TCA350071068FASTKD2c.460A>T (p.Ile154Phe)
n.518A>T
gnomAD v4
2g.206767154T>ACA350071073FASTKD2c.461T>A (p.Ile154Asn)
n.519T>A
2g.206767154T>CCA2074885FASTKD2c.461T>C (p.Ile154Thr)
n.519T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767154T>GCA350071075FASTKD2c.461T>G (p.Ile154Ser)
n.519T>G
2g.206767154T=CA1323320489FASTKD2c.461T= (p.Ile154=)
n.519T=
2g.206767155C>ACA431115274FASTKD2c.462C>A (p.Ile154=)
n.520C>A
2g.206767155C>GCA350071080FASTKD2c.462C>G (p.Ile154Met)
n.520C>G
2g.206767155C>TCA431115280FASTKD2c.462C>T (p.Ile154=)
n.520C>T
2g.206767156delCA2662829150FASTKD2c.463del (p.Ser155AlafsTer12)
n.521del
gnomAD v4
2g.206767156A=CA1323320490FASTKD2c.463A= (p.Ser155=)
n.521A=
2g.206767156A>CCA350071083FASTKD2c.463A>C (p.Ser155Arg)
n.521A>C
2g.206767156A>GCA350071087FASTKD2c.463A>G (p.Ser155Gly)
n.521A>G
2g.206767156A>TCA63709981FASTKD2c.463A>T (p.Ser155Cys)
n.521A>T
dbSNP gnomAD v4
2g.206767157G>ACA350071095FASTKD2c.464G>A (p.Ser155Asn)
n.522G>A
dbSNP gnomAD v2 gnomAD v4
2g.206767157G>CCA350071101FASTKD2c.464G>C (p.Ser155Thr)
n.522G>C
2g.206767157G=CA1323320491FASTKD2c.464G= (p.Ser155=)
n.522G=
2g.206767157G>TCA350071107FASTKD2c.464G>T (p.Ser155Ile)
n.522G>T
2g.206767158C>ACA350071110FASTKD2c.465C>A (p.Ser155Arg)
n.523C>A
2g.206767158C>GCA350071111FASTKD2c.465C>G (p.Ser155Arg)
n.523C>G
2g.206767158C>TCA431115292FASTKD2c.465C>T (p.Ser155=)
n.523C>T
2g.206767159A>CCA350071117FASTKD2c.466A>C (p.Ser156Arg)
n.524A>C
2g.206767159A>GCA350071119FASTKD2c.466A>G (p.Ser156Gly)
n.524A>G
2g.206767159A>TCA350071115FASTKD2c.466A>T (p.Ser156Cys)
n.524A>T
2g.206767160G>ACA350071122FASTKD2c.467G>A (p.Ser156Asn)
n.525G>A
2g.206767160G>CCA350071126FASTKD2c.467G>C (p.Ser156Thr)
n.525G>C
2g.206767160G>TCA350071128FASTKD2c.467G>T (p.Ser156Ile)
n.525G>T
2g.206767161T>ACA350071132FASTKD2c.468T>A (p.Ser156Arg)
n.526T>A
2g.206767161T>CCA431115299FASTKD2c.468T>C (p.Ser156=)
n.526T>C
dbSNP
2g.206767161T>GCA350071138FASTKD2c.468T>G (p.Ser156Arg)
n.526T>G
2g.206767161T=CA1323320492FASTKD2c.468T= (p.Ser156=)
n.526T=
2g.206767162A=CA1323320493FASTKD2c.469A= (p.Arg157=)
n.527A=
2g.206767162A>CCA431115300FASTKD2c.469A>C (p.Arg157=)
n.527A>C
2g.206767162A>GCA350071142FASTKD2c.469A>G (p.Arg157Gly)
n.527A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206767162A>TCA350071147FASTKD2c.469A>T (p.Arg157Ter)
n.527A>T
2g.206767163G>ACA350071151FASTKD2c.470G>A (p.Arg157Lys)
n.528G>A
dbSNP gnomAD v2 gnomAD v4
2g.206767163G>CCA350071154FASTKD2c.470G>C (p.Arg157Thr)
n.528G>C
2g.206767163G=CA1323320494FASTKD2c.470G= (p.Arg157=)
n.528G=
2g.206767163G>TCA350071157FASTKD2c.470G>T (p.Arg157Ile)
n.528G>T
2g.206767164A>CCA350071161FASTKD2c.471A>C (p.Arg157Ser)
n.529A>C
2g.206767164A>GCA431115309FASTKD2c.471A>G (p.Arg157=)
n.529A>G
2g.206767164A>TCA350071167FASTKD2c.471A>T (p.Arg157Ser)
n.529A>T
2g.206767165A>CCA350071181FASTKD2c.472A>C (p.Lys158Gln)
n.530A>C
2g.206767165A>GCA350071174FASTKD2c.472A>G (p.Lys158Glu)
n.530A>G
2g.206767165A>TCA350071177FASTKD2c.472A>T (p.Lys158Ter)
n.530A>T
2g.206767166A>CCA350071184FASTKD2c.473A>C (p.Lys158Thr)
n.531A>C
gnomAD v4
2g.206767166A>GCA350071187FASTKD2c.473A>G (p.Lys158Arg)
n.531A>G
2g.206767166A>TCA350071193FASTKD2c.473A>T (p.Lys158Ile)
n.531A>T
2g.206767167A>CCA350071199FASTKD2c.474A>C (p.Lys158Asn)
n.532A>C
2g.206767167A>GCA431115318FASTKD2c.474A>G (p.Lys158=)
n.532A>G
2g.206767167A>TCA350071202FASTKD2c.474A>T (p.Lys158Asn)
n.532A>T
2g.206767167_206767171delinsACTGTCA1323320495FASTKD2c.474_478delinsACTGT (p.Lys158=)
n.532_536delinsACTGT
2g.206767168C>ACA350071208FASTKD2c.475C>A (p.Leu159Met)
n.533C>A
2g.206767168C=CA1323320496FASTKD2c.475C= (p.Leu159=)
n.533C=
2g.206767168C>GCA350071211FASTKD2c.475C>G (p.Leu159Val)
n.533C>G
gnomAD v4
2g.206767168C>TCA431115319FASTKD2c.475C>T (p.Leu159=)
n.533C>T
dbSNP gnomAD v3 gnomAD v4
2g.206767171_206767174delCA16617418FASTKD2c.478_481del (p.Ser160ArgfsTer6)
n.536_539del
ClinVar dbSNP
2g.206767169T>ACA350071220FASTKD2c.476T>A (p.Leu159Gln)
n.534T>A
2g.206767169T>CCA350071222FASTKD2c.476T>C (p.Leu159Pro)
n.534T>C
2g.206767169T>GCA350071225FASTKD2c.476T>G (p.Leu159Arg)
n.534T>G
2g.206767170G>ACA431115323FASTKD2c.477G>A (p.Leu159=)
n.535G>A
2g.206767170G>CCA431115326FASTKD2c.477G>C (p.Leu159=)
n.535G>C
2g.206767170G>TCA431115328FASTKD2c.477G>T (p.Leu159=)
n.535G>T
2g.206767171T>ACA350071229FASTKD2c.478T>A (p.Ser160Thr)
n.536T>A
2g.206767171T>CCA350071233FASTKD2c.478T>C (p.Ser160Pro)
n.536T>C
2g.206767171T>GCA350071234FASTKD2c.478T>G (p.Ser160Ala)
n.536T>G
2g.206767171_206767188delinsTCTGAGGAATGTAATTCCCA1323320497FASTKD2c.478_495delinsTCTGAGGAATGTAATTCC (p.Ser160=)
n.536_553delinsTCTGAGGAATGTAATTCC
2g.206767172C>ACA350071247FASTKD2c.479C>A (p.Ser160Tyr)
n.537C>A
2g.206767172C=CA1323320498FASTKD2c.479C= (p.Ser160=)
n.537C=
2g.206767172C>GCA350071243FASTKD2c.479C>G (p.Ser160Cys)
n.537C>G
COSMIC
2g.206767172C>TCA350071238FASTKD2c.479C>T (p.Ser160Phe)
n.537C>T
gnomAD v4
2g.206767177_206767193delCA1041644731FASTKD2c.484_500del (p.Glu162Ter)
n.542_558del
dbSNP gnomAD v3 gnomAD v4
2g.206767173T>ACA431115341FASTKD2c.480T>A (p.Ser160=)
n.538T>A
2g.206767173T>CCA431115337FASTKD2c.480T>C (p.Ser160=)
n.538T>C
2g.206767173T>GCA431115339FASTKD2c.480T>G (p.Ser160=)
n.538T>G
dbSNP
2g.206767173T=CA1323320499FASTKD2c.480T= (p.Ser160=)
n.538T=
2g.206767173dupCA1323320500FASTKD2c.480dup (p.Glu161Ter)
n.538dup
dbSNP
2g.206767174G>ACA350071255FASTKD2c.481G>A (p.Glu161Lys)
n.539G>A
2g.206767174G>CCA350071251FASTKD2c.481G>C (p.Glu161Gln)
n.539G>C
2g.206767174G>TCA350071257FASTKD2c.481G>T (p.Glu161Ter)
n.539G>T
2g.206767175A>CCA350071262FASTKD2c.482A>C (p.Glu161Ala)
n.540A>C
2g.206767175A>GCA350071279FASTKD2c.482A>G (p.Glu161Gly)
n.540A>G
gnomAD v4
2g.206767175A>TCA350071275FASTKD2c.482A>T (p.Glu161Val)
n.540A>T
2g.206767176G>ACA431115342FASTKD2c.483G>A (p.Glu161=)
n.541G>A
2g.206767176G>CCA350071285FASTKD2c.483G>C (p.Glu161Asp)
n.541G>C
2g.206767176G>TCA350071291FASTKD2c.483G>T (p.Glu161Asp)
n.541G>T
COSMIC
2g.206767177G>ACA350071293FASTKD2c.484G>A (p.Glu162Lys)
n.542G>A
ClinVar
2g.206767177G>CCA350071295FASTKD2c.484G>C (p.Glu162Gln)
n.542G>C
2g.206767177G>TCA350071297FASTKD2c.484G>T (p.Glu162Ter)
n.542G>T
2g.206767178A=CA1323320501FASTKD2c.485A= (p.Glu162=)
n.543A=
2g.206767178A>CCA350071298FASTKD2c.485A>C (p.Glu162Ala)
n.543A>C
2g.206767178A>GCA2074886FASTKD2c.485A>G (p.Glu162Gly)
n.543A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767178A>TCA350071302FASTKD2c.485A>T (p.Glu162Val)
n.543A>T
2g.206767179A>CCA350071304FASTKD2c.486A>C (p.Glu162Asp)
n.544A>C
2g.206767179A>GCA431115347FASTKD2c.486A>G (p.Glu162=)
n.544A>G
gnomAD v4
2g.206767179A>TCA350071308FASTKD2c.486A>T (p.Glu162Asp)
n.544A>T
2g.206767180T>ACA350071323FASTKD2c.487T>A (p.Cys163Ser)
n.545T>A
2g.206767180T>CCA350071321FASTKD2c.487T>C (p.Cys163Arg)
n.545T>C
2g.206767180T>GCA350071317FASTKD2c.487T>G (p.Cys163Gly)
n.545T>G
2g.206767181G>ACA350071326FASTKD2c.488G>A (p.Cys163Tyr)
n.546G>A
2g.206767181G>CCA350071330FASTKD2c.488G>C (p.Cys163Ser)
n.546G>C
2g.206767181G>TCA350071333FASTKD2c.488G>T (p.Cys163Phe)
n.546G>T
2g.206767182T>ACA350071334FASTKD2c.489T>A (p.Cys163Ter)
n.547T>A
2g.206767182T>CCA2074887FASTKD2c.489T>C (p.Cys163=)
n.547T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767182T>GCA350071337FASTKD2c.489T>G (p.Cys163Trp)
n.547T>G
2g.206767182T=CA1323320502FASTKD2c.489T= (p.Cys163=)
n.547T=
2g.206767183A>CCA350071340FASTKD2c.490A>C (p.Asn164His)
n.548A>C
2g.206767183A>GCA350071343FASTKD2c.490A>G (p.Asn164Asp)
n.548A>G
2g.206767183A>TCA350071346FASTKD2c.490A>T (p.Asn164Tyr)
n.548A>T
2g.206767184A>CCA350071348FASTKD2c.491A>C (p.Asn164Thr)
n.549A>C
2g.206767184A>GCA350071355FASTKD2c.491A>G (p.Asn164Ser)
n.549A>G
2g.206767184A>TCA350071358FASTKD2c.491A>T (p.Asn164Ile)
n.549A>T
2g.206767185T>ACA350071365FASTKD2c.492T>A (p.Asn164Lys)
n.550T>A
2g.206767185T>CCA431115361FASTKD2c.492T>C (p.Asn164=)
n.550T>C
2g.206767185T>GCA350071361FASTKD2c.492T>G (p.Asn164Lys)
n.550T>G
2g.206767186T>ACA350071368FASTKD2c.493T>A (p.Ser165Thr)
n.551T>A
2g.206767186T>CCA2074888FASTKD2c.493T>C (p.Ser165Pro)
n.551T>C
dbSNP ExAC gnomAD v2
2g.206767186T>GCA350071374FASTKD2c.493T>G (p.Ser165Ala)
n.551T>G
2g.206767186T=CA1323320503FASTKD2c.493T= (p.Ser165=)
n.551T=
2g.206767187C>ACA350071380FASTKD2c.494C>A (p.Ser165Tyr)
n.552C>A
2g.206767187C>GCA350071383FASTKD2c.494C>G (p.Ser165Cys)
n.552C>G
2g.206767187C>TCA350071386FASTKD2c.494C>T (p.Ser165Phe)
n.552C>T
COSMIC
2g.206767188C>ACA431115368FASTKD2c.495C>A (p.Ser165=)
n.553C>A
2g.206767188C>GCA431115370FASTKD2c.495C>G (p.Ser165=)
n.553C>G
gnomAD v4
2g.206767188C>TCA431115371FASTKD2c.495C>T (p.Ser165=)
n.553C>T
gnomAD v4
2g.206767188_206767190delinsCCTCA1323320504FASTKD2c.495_497delinsCCT (p.Ser165=)
n.553_555delinsCCT
2g.206767189C>ACA350071394FASTKD2c.496C>A (p.Leu166Met)
n.554C>A
2g.206767189C>GCA350071390FASTKD2c.496C>G (p.Leu166Val)
n.554C>G
2g.206767189C>TCA431115374FASTKD2c.496C>T (p.Leu166=)
n.554C>T
2g.206767189_206767190delCA763820976FASTKD2c.496_497del (p.Leu166GlufsTer2)
n.554_555del
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.206767190T>ACA350071414FASTKD2c.497T>A (p.Leu166Gln)
n.555T>A
2g.206767190T>CCA350071420FASTKD2c.497T>C (p.Leu166Pro)
n.555T>C
gnomAD v4
2g.206767190T>GCA350071424FASTKD2c.497T>G (p.Leu166Arg)
n.555T>G
2g.206767191G>ACA431115377FASTKD2c.498G>A (p.Leu166=)
n.556G>A
2g.206767191G>CCA431115379FASTKD2c.498G>C (p.Leu166=)
n.556G>C
2g.206767191G>TCA431115380FASTKD2c.498G>T (p.Leu166=)
n.556G>T
2g.206767192A>CCA350071428FASTKD2c.499A>C (p.Ser167Arg)
n.557A>C
2g.206767192A>GCA350071433FASTKD2c.499A>G (p.Ser167Gly)
n.557A>G
2g.206767192A>TCA350071443FASTKD2c.499A>T (p.Ser167Cys)
n.557A>T
2g.206767193G>ACA350071446FASTKD2c.500G>A (p.Ser167Asn)
n.558G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206767193G>CCA350071452FASTKD2c.500G>C (p.Ser167Thr)
n.558G>C
2g.206767193G=CA1323320505FASTKD2c.500G= (p.Ser167=)
n.558G=
2g.206767193G>TCA350071450FASTKD2c.500G>T (p.Ser167Ile)
n.558G>T
2g.206767194T>ACA350071459FASTKD2c.501T>A (p.Ser167Arg)
n.559T>A
2g.206767194T>CCA431115386FASTKD2c.501T>C (p.Ser167=)
n.559T>C
2g.206767194T>GCA350071461FASTKD2c.501T>G (p.Ser167Arg)
n.559T>G
2g.206767195G>ACA2074889FASTKD2c.502G>A (p.Asp168Asn)
n.560G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767195G>CCA350071463FASTKD2c.502G>C (p.Asp168His)
n.560G>C
2g.206767195G=CA1323320506FASTKD2c.502G= (p.Asp168=)
n.560G=
2g.206767195G>TCA350071464FASTKD2c.502G>T (p.Asp168Tyr)
n.560G>T
2g.206767195_206767196delinsGACA1323320507FASTKD2c.502_503delinsGA (p.Asp168=)
n.560_561delinsGA
2g.206767196delCA539388790FASTKD2c.503del (p.Asp168ValfsTer3)
n.561del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206767196A=CA1323320508FASTKD2c.503A= (p.Asp168=)
n.561A=
2g.206767196A>CCA350071465FASTKD2c.503A>C (p.Asp168Ala)
n.561A>C
2g.206767196A>GCA2074890FASTKD2c.503A>G (p.Asp168Gly)
n.561A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767196A>TCA350071467FASTKD2c.503A>T (p.Asp168Val)
n.561A>T
2g.206767197T>ACA350071475FASTKD2c.504T>A (p.Asp168Glu)
n.562T>A
gnomAD v4
2g.206767197T>CCA2074891FASTKD2c.504T>C (p.Asp168=)
n.562T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767197T>GCA350071487FASTKD2c.504T>G (p.Asp168Glu)
n.562T>G
2g.206767197T=CA1323320509FASTKD2c.504T= (p.Asp168=)
n.562T=
2g.206767198G>ACA350071493FASTKD2c.505G>A (p.Val169Met)
n.563G>A
gnomAD v4
2g.206767198G>CCA350071495FASTKD2c.505G>C (p.Val169Leu)
n.563G>C
2g.206767198G>TCA350071490FASTKD2c.505G>T (p.Val169Leu)
n.563G>T
2g.206767199T>ACA350071504FASTKD2c.506T>A (p.Val169Glu)
n.564T>A
2g.206767199T>CCA350071498FASTKD2c.506T>C (p.Val169Ala)
n.564T>C
2g.206767199T>GCA63710008FASTKD2c.506T>G (p.Val169Gly)
n.564T>G
dbSNP gnomAD v4
2g.206767199T=CA1323320510FASTKD2c.506T= (p.Val169=)
n.564T=
2g.206767200G>ACA431115402FASTKD2c.507G>A (p.Val169=)
n.565G>A
gnomAD v4
2g.206767200G>CCA431115403FASTKD2c.507G>C (p.Val169=)
n.565G>C
2g.206767200G>TCA431115404FASTKD2c.507G>T (p.Val169=)
n.565G>T
2g.206767201T>ACA350071505FASTKD2c.508T>A (p.Leu170Ile)
n.566T>A
2g.206767201T>CCA431115405FASTKD2c.508T>C (p.Leu170=)
n.566T>C
2g.206767201T>GCA350071510FASTKD2c.508T>G (p.Leu170Val)
n.566T>G
2g.206767202T>ACA350071513FASTKD2c.509T>A (p.Leu170Ter)
n.567T>A
2g.206767202T>CCA350071514FASTKD2c.509T>C (p.Leu170Ser)
n.567T>C
2g.206767202T>GCA350071525FASTKD2c.509T>G (p.Leu170Ter)
n.567T>G
2g.206767203A>CCA350071528FASTKD2c.510A>C (p.Leu170Phe)
n.568A>C
2g.206767203A>GCA431115411FASTKD2c.510A>G (p.Leu170=)
n.568A>G
2g.206767203A>TCA350071531FASTKD2c.510A>T (p.Leu170Phe)
n.568A>T
2g.206767204G>ACA350071534FASTKD2c.511G>A (p.Asp171Asn)
n.569G>A
2g.206767204G>CCA350071541FASTKD2c.511G>C (p.Asp171His)
n.569G>C
2g.206767204G>TCA350071542FASTKD2c.511G>T (p.Asp171Tyr)
n.569G>T
gnomAD v4
2g.206767205A>CCA350071549FASTKD2c.512A>C (p.Asp171Ala)
n.570A>C
2g.206767205A>GCA350071545FASTKD2c.512A>G (p.Asp171Gly)
n.570A>G
2g.206767205A>TCA350071547FASTKD2c.512A>T (p.Asp171Val)
n.570A>T
gnomAD v4
2g.206767206T>ACA350071553FASTKD2c.513T>A (p.Asp171Glu)
n.571T>A
2g.206767206T>CCA431115417FASTKD2c.513T>C (p.Asp171=)
n.571T>C
2g.206767206T>GCA350071556FASTKD2c.513T>G (p.Asp171Glu)
n.571T>G
2g.206767207G>ACA350071558FASTKD2c.514G>A (p.Ala172Thr)
n.572G>A
2g.206767207G>CCA350071561FASTKD2c.514G>C (p.Ala172Pro)
n.572G>C
2g.206767207G>TCA350071564FASTKD2c.514G>T (p.Ala172Ser)
n.572G>T
2g.206767208C>ACA350071573FASTKD2c.515C>A (p.Ala172Glu)
n.573C>A
2g.206767208C>GCA350071574FASTKD2c.515C>G (p.Ala172Gly)
n.573C>G
2g.206767208C>TCA350071576FASTKD2c.515C>T (p.Ala172Val)
n.573C>T
2g.206767209A=CA1323320511FASTKD2c.516A= (p.Ala172=)
n.574A=
2g.206767209A>CCA431115427FASTKD2c.516A>C (p.Ala172=)
n.574A>C
2g.206767209A>GCA2074892FASTKD2c.516A>G (p.Ala172=)
n.574A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767209A>TCA431115426FASTKD2c.516A>T (p.Ala172=)
n.574A>T
2g.206767210T>ACA350071582FASTKD2c.517T>A (p.Phe173Ile)
n.575T>A
2g.206767210T>CCA350071592FASTKD2c.517T>C (p.Phe173Leu)
n.575T>C
2g.206767210T>GCA350071595FASTKD2c.517T>G (p.Phe173Val)
n.575T>G
2g.206767211T>ACA350071602FASTKD2c.518T>A (p.Phe173Tyr)
n.576T>A
2g.206767211T>CCA350071606FASTKD2c.518T>C (p.Phe173Ser)
n.576T>C
2g.206767211T>GCA350071599FASTKD2c.518T>G (p.Phe173Cys)
n.576T>G
2g.206767212T>ACA350071610FASTKD2c.519T>A (p.Phe173Leu)
n.577T>A
2g.206767212T>CCA431115437FASTKD2c.519T>C (p.Phe173=)
n.577T>C
2g.206767212T>GCA350071613FASTKD2c.519T>G (p.Phe173Leu)
n.577T>G
2g.206767213T>ACA350071621FASTKD2c.520T>A (p.Ser174Thr)
n.578T>A
2g.206767213T>CCA350071627FASTKD2c.520T>C (p.Ser174Pro)
n.578T>C
2g.206767213T>GCA350071630FASTKD2c.520T>G (p.Ser174Ala)
n.578T>G
2g.206767214C>ACA350071634FASTKD2c.521C>A (p.Ser174Ter)
n.579C>A
2g.206767214C>GCA350071636FASTKD2c.521C>G (p.Ser174Ter)
n.579C>G
2g.206767214C>TCA350071639FASTKD2c.521C>T (p.Ser174Leu)
n.579C>T
2g.206767215A=CA1323320512FASTKD2c.522A= (p.Ser174=)
n.580A=
2g.206767215A>CCA431115450FASTKD2c.522A>C (p.Ser174=)
n.580A>C
2g.206767215A>GCA431115448FASTKD2c.522A>G (p.Ser174=)
n.580A>G
2g.206767215A>TCA431115452FASTKD2c.522A>T (p.Ser174=)
n.580A>T
2g.206767215_206767216insTTGGAGACTTCATGATTCA1323320514FASTKD2c.522_523insTTGGAGACTTCATGATT (p.Lys175LeufsTer5)
n.580_581insTTGGAGACTTCATGATT
dbSNP
2g.206767216A=CA1323320513FASTKD2c.523A= (p.Lys175=)
n.581A=
2g.206767216A>CCA350071642FASTKD2c.523A>C (p.Lys175Gln)
n.581A>C
2g.206767216A>GCA2074893FASTKD2c.523A>G (p.Lys175Glu)
n.581A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767216A>TCA350071650FASTKD2c.523A>T (p.Lys175Ter)
n.581A>T
2g.206767217A>CCA350071653FASTKD2c.524A>C (p.Lys175Thr)
n.582A>C
2g.206767217A>GCA350071655FASTKD2c.524A>G (p.Lys175Arg)
n.582A>G
gnomAD v4
2g.206767217A>TCA350071657FASTKD2c.524A>T (p.Lys175Ile)
n.582A>T
2g.206767218A=CA1323320515FASTKD2c.525A= (p.Lys175=)
n.583A=
2g.206767218A>CCA350071659FASTKD2c.525A>C (p.Lys175Asn)
n.583A>C
2g.206767218A>GCA431115455FASTKD2c.525A>G (p.Lys175=)
n.583A>G
dbSNP
2g.206767218A>TCA350071663FASTKD2c.525A>T (p.Lys175Asn)
n.583A>T
2g.206767219G>ACA350071667FASTKD2c.526G>A (p.Ala176Thr)
n.584G>A
2g.206767219G>CCA350071676FASTKD2c.526G>C (p.Ala176Pro)
n.584G>C
2g.206767219G>TCA350071682FASTKD2c.526G>T (p.Ala176Ser)
n.584G>T
ClinVar
2g.206767220C>ACA350071685FASTKD2c.527C>A (p.Ala176Glu)
n.585C>A
2g.206767220C=CA1323320516FASTKD2c.527C= (p.Ala176=)
n.585C=
2g.206767220C>GCA350071687FASTKD2c.527C>G (p.Ala176Gly)
n.585C>G
dbSNP
2g.206767220C>TCA2074894FASTKD2c.527C>T (p.Ala176Val)
n.585C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767221G>ACA2074895FASTKD2c.528G>A (p.Ala176=)
n.586G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.206767221G>CCA431115465FASTKD2c.528G>C (p.Ala176=)
n.586G>C
dbSNP gnomAD v2 gnomAD v4
2g.206767221G=CA1323320517FASTKD2c.528G= (p.Ala176=)
n.586G=
2g.206767221G>TCA2074896FASTKD2c.528G>T (p.Ala176=)
n.586G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767222C>ACA350071703FASTKD2c.529C>A (p.Pro177Thr)
n.587C>A
2g.206767222C=CA1323320518FASTKD2c.529C= (p.Pro177=)
n.587C=
2g.206767222C>GCA350071707FASTKD2c.529C>G (p.Pro177Ala)
n.587C>G
dbSNP gnomAD v3 gnomAD v4
2g.206767222C>TCA350071708FASTKD2c.529C>T (p.Pro177Ser)
n.587C>T
2g.206767223C>ACA350071711FASTKD2c.530C>A (p.Pro177His)
n.588C>A
2g.206767223C=CA1323320519FASTKD2c.530C= (p.Pro177=)
n.588C=
2g.206767223C>GCA2074897FASTKD2c.530C>G (p.Pro177Arg)
n.588C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767223C>TCA350071713FASTKD2c.530C>T (p.Pro177Leu)
n.588C>T
2g.206767224C>ACA431115475FASTKD2c.531C>A (p.Pro177=)
n.589C>A
dbSNP
2g.206767224C=CA1323320520FASTKD2c.531C= (p.Pro177=)
n.589C=
2g.206767224C>GCA431115476FASTKD2c.531C>G (p.Pro177=)
n.589C>G
2g.206767224C>TCA431115477FASTKD2c.531C>T (p.Pro177=)
n.589C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206767225A>CCA350071718FASTKD2c.532A>C (p.Thr178Pro)
n.590A>C
2g.206767225A>GCA350071725FASTKD2c.532A>G (p.Thr178Ala)
n.590A>G
2g.206767225A>TCA350071716FASTKD2c.532A>T (p.Thr178Ser)
n.590A>T
2g.206767226C>ACA350071727FASTKD2c.533C>A (p.Thr178Lys)
n.591C>A
2g.206767226C>GCA350071733FASTKD2c.533C>G (p.Thr178Arg)
n.591C>G
2g.206767226C>TCA350071729FASTKD2c.533C>T (p.Thr178Ile)
n.591C>T
2g.206767227A=CA1323320522FASTKD2c.534A= (p.Thr178=)
n.592A=
2g.206767227A>CCA431115482FASTKD2c.534A>C (p.Thr178=)
n.592A>C
2g.206767227A>GCA2074898FASTKD2c.534A>G (p.Thr178=)
n.592A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767227A>TCA431115483FASTKD2c.534A>T (p.Thr178=)
n.592A>T
2g.206767227_206767228delinsATCA1323320521FASTKD2c.534_535delinsAT (p.Thr178=)
n.592_593delinsAT
2g.206767228T>ACA350071748FASTKD2c.535T>A (p.Phe179Ile)
n.593T>A
2g.206767228T>CCA350071739FASTKD2c.535T>C (p.Phe179Leu)
n.593T>C
2g.206767228T>GCA350071752FASTKD2c.535T>G (p.Phe179Val)
n.593T>G
2g.206767230delCA539388791FASTKD2c.537del (p.Pro180LeufsTer27)
n.595del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206767229T>ACA350071753FASTKD2c.536T>A (p.Phe179Tyr)
n.594T>A
2g.206767229T>CCA350071754FASTKD2c.536T>C (p.Phe179Ser)
n.594T>C
2g.206767229T>GCA350071755FASTKD2c.536T>G (p.Phe179Cys)
n.594T>G
2g.206767230T>ACA350071756FASTKD2c.537T>A (p.Phe179Leu)
n.595T>A
2g.206767230T>CCA431115488FASTKD2c.537T>C (p.Phe179=)
n.595T>C
2g.206767230T>GCA350071759FASTKD2c.537T>G (p.Phe179Leu)
n.595T>G
2g.206767231C>ACA350071764FASTKD2c.538C>A (p.Pro180Thr)
n.596C>A
2g.206767231C>GCA350071766FASTKD2c.538C>G (p.Pro180Ala)
n.596C>G
2g.206767231C>TCA350071768FASTKD2c.538C>T (p.Pro180Ser)
n.596C>T
2g.206767232C>ACA350071770FASTKD2c.539C>A (p.Pro180His)
n.597C>A
2g.206767232C>GCA350071771FASTKD2c.539C>G (p.Pro180Arg)
n.597C>G
2g.206767232C>TCA350071775FASTKD2c.539C>T (p.Pro180Leu)
n.597C>T
COSMIC

Number of alleles fetched