Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.25231663A>CCA410988259CRYBB2c.509A>C (p.Asp170Ala)
gnomAD v4
22g.25231663A>GCA410988257CRYBB2c.509A>G (p.Asp170Gly)
22g.25231663A>TCA410988258CRYBB2c.509A>T (p.Asp170Val)
22g.25231664C>ACA410988260CRYBB2c.510C>A (p.Asp170Glu)
22g.25231664C>GCA410988261CRYBB2c.510C>G (p.Asp170Glu)
22g.25231664C>TCA513894817CRYBB2c.510C>T (p.Asp170=)
22g.25231665T>ACA410988262CRYBB2c.511T>A (p.Tyr171Asn)
22g.25231665T>CCA410988263CRYBB2c.511T>C (p.Tyr171His)
gnomAD v4
22g.25231665T>GCA410988264CRYBB2c.511T>G (p.Tyr171Asp)
22g.25231666A>CCA410988265CRYBB2c.512A>C (p.Tyr171Ser)
22g.25231666A>GCA410988266CRYBB2c.512A>G (p.Tyr171Cys)
22g.25231666A>TCA410988267CRYBB2c.512A>T (p.Tyr171Phe)
22g.25231667C>ACA410988268CRYBB2c.513C>A (p.Tyr171Ter)
22g.25231667C>GCA410988269CRYBB2c.513C>G (p.Tyr171Ter)
22g.25231667C>TCA513894818CRYBB2c.513C>T (p.Tyr171=)
gnomAD v4
22g.25231668A>CCA410988272CRYBB2c.514A>C (p.Lys172Gln)
22g.25231668A>GCA410988271CRYBB2c.514A>G (p.Lys172Glu)
22g.25231668A>TCA410988270CRYBB2c.514A>T (p.Lys172Ter)
22g.25231669A>CCA410988273CRYBB2c.515A>C (p.Lys172Thr)
22g.25231669A>GCA410988274CRYBB2c.515A>G (p.Lys172Arg)
22g.25231669A>TCA410988275CRYBB2c.515A>T (p.Lys172Met)
22g.25231670G>ACA513894819CRYBB2c.516G>A (p.Lys172=)
22g.25231670G>CCA410988276CRYBB2c.516G>C (p.Lys172Asn)
22g.25231670G>TCA410988277CRYBB2c.516G>T (p.Lys172Asn)
22g.25231671G>ACA410988278CRYBB2c.517G>A (p.Asp173Asn)
dbSNP
22g.25231671G>CCA410988279CRYBB2c.517G>C (p.Asp173His)
22g.25231671G=CA2398638943CRYBB2c.517G= (p.Asp173=)
22g.25231671G>TCA10158050CRYBB2c.517G>T (p.Asp173Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.25231672A>CCA410988280CRYBB2c.518A>C (p.Asp173Ala)
22g.25231672A>GCA410988281CRYBB2c.518A>G (p.Asp173Gly)
gnomAD v4
22g.25231672A>TCA410988282CRYBB2c.518A>T (p.Asp173Val)
22g.25231673C>ACA410988283CRYBB2c.519C>A (p.Asp173Glu)
dbSNP gnomAD v4
22g.25231673C=CA2398638944CRYBB2c.519C= (p.Asp173=)
22g.25231673C>GCA410988284CRYBB2c.519C>G (p.Asp173Glu)
dbSNP
22g.25231673C>TCA513894820CRYBB2c.519C>T (p.Asp173=)
gnomAD v4
22g.25231674A=CA2398638945CRYBB2c.520A= (p.Ser174=)
22g.25231674A>CCA410988285CRYBB2c.520A>C (p.Ser174Arg)
22g.25231674A>GCA410988287CRYBB2c.520A>G (p.Ser174Gly)
dbSNP gnomAD v2 gnomAD v4
22g.25231674A>TCA410988286CRYBB2c.520A>T (p.Ser174Cys)
22g.25231675G>ACA410988288CRYBB2c.521G>A (p.Ser174Asn)
COSMIC
22g.25231675G>CCA410988289CRYBB2c.521G>C (p.Ser174Thr)
22g.25231675G>TCA410988290CRYBB2c.521G>T (p.Ser174Ile)
22g.25231676C>ACA410988291CRYBB2c.522C>A (p.Ser174Arg)
22g.25231676C>GCA410988292CRYBB2c.522C>G (p.Ser174Arg)
22g.25231676C>TCA513894821CRYBB2c.522C>T (p.Ser174=)
22g.25231677A>CCA410988293CRYBB2c.523A>C (p.Ser175Arg)
22g.25231677A>GCA410988294CRYBB2c.523A>G (p.Ser175Gly)
22g.25231677A>TCA410988295CRYBB2c.523A>T (p.Ser175Cys)
22g.25231678G>ACA410988296CRYBB2c.524G>A (p.Ser175Asn)
22g.25231678G>CCA410988297CRYBB2c.524G>C (p.Ser175Thr)
22g.25231678G>TCA410988298CRYBB2c.524G>T (p.Ser175Ile)
22g.25231679C>ACA410988299CRYBB2c.525C>A (p.Ser175Arg)
dbSNP gnomAD v2
22g.25231679C=CA2398638946CRYBB2c.525C= (p.Ser175=)
22g.25231679C>GCA10158051CRYBB2c.525C>G (p.Ser175Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.25231679C>TCA513894822CRYBB2c.525C>T (p.Ser175=)
dbSNP gnomAD v2 gnomAD v4
22g.25231680G>ACA410988300CRYBB2c.526G>A (p.Asp176Asn)
dbSNP gnomAD v4 COSMIC
22g.25231680G>CCA410988301CRYBB2c.526G>C (p.Asp176His)
22g.25231680G=CA2398638947CRYBB2c.526G= (p.Asp176=)
22g.25231680G>TCA410988302CRYBB2c.526G>T (p.Asp176Tyr)
22g.25231680_25231681delCA2577670062CRYBB2c.526_527del (p.Asp176LeufsTer?)
22g.25231681A>CCA410988303CRYBB2c.527A>C (p.Asp176Ala)
22g.25231681A>GCA410988304CRYBB2c.527A>G (p.Asp176Gly)
22g.25231681A>TCA410988305CRYBB2c.527A>T (p.Asp176Val)
22g.25231682C>ACA410988306CRYBB2c.528C>A (p.Asp176Glu)
22g.25231682C>GCA410988307CRYBB2c.528C>G (p.Asp176Glu)
22g.25231682C>TCA513894823CRYBB2c.528C>T (p.Asp176=)
gnomAD v4
22g.25231683T>ACA410988308CRYBB2c.529T>A (p.Phe177Ile)
dbSNP gnomAD v3 gnomAD v4
22g.25231683T>CCA410988309CRYBB2c.529T>C (p.Phe177Leu)
22g.25231683T>GCA10158052CRYBB2c.529T>G (p.Phe177Val)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.25231683T=CA2398638948CRYBB2c.529T= (p.Phe177=)
22g.25231684T>ACA410988310CRYBB2c.530T>A (p.Phe177Tyr)
22g.25231684T>CCA410988311CRYBB2c.530T>C (p.Phe177Ser)
dbSNP gnomAD v4
22g.25231684T>GCA410988312CRYBB2c.530T>G (p.Phe177Cys)
22g.25231684T=CA2398638949CRYBB2c.530T= (p.Phe177=)
22g.25231685T>ACA410988313CRYBB2c.531T>A (p.Phe177Leu)
22g.25231685T>CCA513894825CRYBB2c.531T>C (p.Phe177=)
22g.25231685T>GCA410988314CRYBB2c.531T>G (p.Phe177Leu)
22g.25231686G>ACA410988315CRYBB2c.532G>A (p.Gly178Arg)
22g.25231686G>CCA410988317CRYBB2c.532G>C (p.Gly178Arg)
ClinVar dbSNP
22g.25231686G=CA2398638950CRYBB2c.532G= (p.Gly178=)
22g.25231686G>TCA410988316CRYBB2c.532G>T (p.Gly178Trp)
22g.25231687G>ACA410988318CRYBB2c.533G>A (p.Gly178Glu)
22g.25231687G>CCA410988319CRYBB2c.533G>C (p.Gly178Ala)
gnomAD v4
22g.25231687G>TCA410988320CRYBB2c.533G>T (p.Gly178Val)
22g.25231688G>ACA513894826CRYBB2c.534G>A (p.Gly178=)
22g.25231688G>CCA513894827CRYBB2c.534G>C (p.Gly178=)
22g.25231688G>TCA513894828CRYBB2c.534G>T (p.Gly178=)
22g.25231689G>ACA410988321CRYBB2c.535G>A (p.Ala179Thr)
gnomAD v4
22g.25231689G>CCA410988322CRYBB2c.535G>C (p.Ala179Pro)
22g.25231689G>TCA410988323CRYBB2c.535G>T (p.Ala179Ser)
22g.25231690C>ACA322757282CRYBB2c.536C>A (p.Ala179Asp)
dbSNP COSMIC
22g.25231690C=CA2398638951CRYBB2c.536C= (p.Ala179=)
22g.25231690C>GCA410988324CRYBB2c.536C>G (p.Ala179Gly)
dbSNP gnomAD v2 gnomAD v4
22g.25231690C>TCA410988325CRYBB2c.536C>T (p.Ala179Val)
dbSNP gnomAD v2 gnomAD v4
22g.25231691C>ACA513894829CRYBB2c.537C>A (p.Ala179=)
22g.25231691C>GCA513894830CRYBB2c.537C>G (p.Ala179=)
22g.25231691C>TCA513894831CRYBB2c.537C>T (p.Ala179=)
22g.25231692C>ACA410988326CRYBB2c.538C>A (p.Pro180Thr)
22g.25231692C>GCA410988327CRYBB2c.538C>G (p.Pro180Ala)
22g.25231692C>TCA410988328CRYBB2c.538C>T (p.Pro180Ser)
22g.25231693C>ACA410988329CRYBB2c.539C>A (p.Pro180His)
22g.25231693C=CA2398638952CRYBB2c.539C= (p.Pro180=)
22g.25231693C>GCA10158053CRYBB2c.539C>G (p.Pro180Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231693C>TCA410988330CRYBB2c.539C>T (p.Pro180Leu)
22g.25231694T>ACA513894832CRYBB2c.540T>A (p.Pro180=)
22g.25231694T>CCA513894834CRYBB2c.540T>C (p.Pro180=)
22g.25231694T>GCA513894833CRYBB2c.540T>G (p.Pro180=)
gnomAD v4
22g.25231695C>ACA410988331CRYBB2c.541C>A (p.His181Asn)
22g.25231695C>GCA410988332CRYBB2c.541C>G (p.His181Asp)
22g.25231695C>TCA410988333CRYBB2c.541C>T (p.His181Tyr)
22g.25231696A=CA2398638953CRYBB2c.542A= (p.His181=)
22g.25231696A>CCA410988334CRYBB2c.542A>C (p.His181Pro)
dbSNP
22g.25231696A>GCA410988335CRYBB2c.542A>G (p.His181Arg)
gnomAD v4
22g.25231696A>TCA410988336CRYBB2c.542A>T (p.His181Leu)
22g.25231697C>ACA10158054CRYBB2c.543C>A (p.His181Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231697C=CA2398638954CRYBB2c.543C= (p.His181=)
22g.25231697C>GCA410988337CRYBB2c.543C>G (p.His181Gln)
gnomAD v4
22g.25231697C>TCA513894835CRYBB2c.543C>T (p.His181=)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.25231701delCA645610490CRYBB2c.547del (p.Gln183ArgfsTer?)
COSMIC
22g.25231698C>ACA410988338CRYBB2c.544C>A (p.Pro182Thr)
22g.25231698C>GCA410988339CRYBB2c.544C>G (p.Pro182Ala)
22g.25231698C>TCA410988340CRYBB2c.544C>T (p.Pro182Ser)
gnomAD v4 COSMIC
22g.25231699C>ACA410988341CRYBB2c.545C>A (p.Pro182His)
22g.25231699C=CA2398638955CRYBB2c.545C= (p.Pro182=)
22g.25231699C>GCA410988342CRYBB2c.545C>G (p.Pro182Arg)
22g.25231699C>TCA410988343CRYBB2c.545C>T (p.Pro182Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.25231700C>ACA513894836CRYBB2c.546C>A (p.Pro182=)
dbSNP gnomAD v2
22g.25231700C=CA2398638956CRYBB2c.546C= (p.Pro182=)
22g.25231700C>GCA513894837CRYBB2c.546C>G (p.Pro182=)
22g.25231700C>TCA513894838CRYBB2c.546C>T (p.Pro182=)
gnomAD v4
22g.25231701C>ACA10158055CRYBB2c.547C>A (p.Gln183Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231701C=CA2398638957CRYBB2c.547C= (p.Gln183=)
22g.25231701C>GCA410988345CRYBB2c.547C>G (p.Gln183Glu)
22g.25231701C>TCA410988344CRYBB2c.547C>T (p.Gln183Ter)
ClinVar dbSNP
22g.25231702A=CA2398638958CRYBB2c.548A= (p.Gln183=)
22g.25231702A>CCA410988346CRYBB2c.548A>C (p.Gln183Pro)
22g.25231702A>GCA410988347CRYBB2c.548A>G (p.Gln183Arg)
dbSNP gnomAD v3 gnomAD v4
22g.25231702A>TCA10158056CRYBB2c.548A>T (p.Gln183Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.25231703G>ACA513894839CRYBB2c.549G>A (p.Gln183=)
gnomAD v4
22g.25231703G>CCA410988348CRYBB2c.549G>C (p.Gln183His)
22g.25231703G>TCA410988349CRYBB2c.549G>T (p.Gln183His)
22g.25231704G>ACA10158057CRYBB2c.550G>A (p.Val184Met)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.25231704G>CCA410988350CRYBB2c.550G>C (p.Val184Leu)
22g.25231704G=CA2398638959CRYBB2c.550G= (p.Val184=)
22g.25231704G>TCA410988351CRYBB2c.550G>T (p.Val184Leu)
22g.25231705T>ACA410988352CRYBB2c.551T>A (p.Val184Glu)
22g.25231705T>CCA410988353CRYBB2c.551T>C (p.Val184Ala)
gnomAD v4
22g.25231705T>GCA410988354CRYBB2c.551T>G (p.Val184Gly)
ClinVar dbSNP
22g.25231705T=CA2398638960CRYBB2c.551T= (p.Val184=)
22g.25231706G>ACA10158058CRYBB2c.552G>A (p.Val184=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231706G>CCA513894840CRYBB2c.552G>C (p.Val184=)
22g.25231706G=CA2398638961CRYBB2c.552G= (p.Val184=)
22g.25231706G>TCA513894841CRYBB2c.552G>T (p.Val184=)
22g.25231707C>ACA410988356CRYBB2c.553C>A (p.Gln185Lys)
22g.25231707C>GCA410988355CRYBB2c.553C>G (p.Gln185Glu)
gnomAD v4
22g.25231707C>TCA410988357CRYBB2c.553C>T (p.Gln185Ter)
ClinVar gnomAD v4
22g.25231708A=CA2398638962CRYBB2c.554A= (p.Gln185=)
22g.25231708A>CCA410988358CRYBB2c.554A>C (p.Gln185Pro)
22g.25231708A>GCA410988359CRYBB2c.554A>G (p.Gln185Arg)
dbSNP gnomAD v3 gnomAD v4
22g.25231708A>TCA410988360CRYBB2c.554A>T (p.Gln185Leu)
22g.25231709G>ACA513894842CRYBB2c.555G>A (p.Gln185=)
dbSNP gnomAD v2 gnomAD v4
22g.25231709G>CCA410988361CRYBB2c.555G>C (p.Gln185His)
gnomAD v4
22g.25231709G=CA2398638963CRYBB2c.555G= (p.Gln185=)
22g.25231709G>TCA410988362CRYBB2c.555G>T (p.Gln185His)
22g.25231710T>ACA410988363CRYBB2c.556T>A (p.Ser186Thr)
ClinVar
22g.25231710T>CCA278843CRYBB2c.556T>C (p.Ser186Pro)
ClinVar dbSNP
22g.25231710T>GCA410988364CRYBB2c.556T>G (p.Ser186Ala)
22g.25231710T=CA2398638964CRYBB2c.556T= (p.Ser186=)
22g.25231711C>ACA410988365CRYBB2c.557C>A (p.Ser186Tyr)
22g.25231711C>GCA410988367CRYBB2c.557C>G (p.Ser186Cys)
22g.25231711C>TCA410988366CRYBB2c.557C>T (p.Ser186Phe)
22g.25231712C>ACA513894843CRYBB2c.558C>A (p.Ser186=)
22g.25231712C=CA2398638965CRYBB2c.558C= (p.Ser186=)
22g.25231712C>GCA513894844CRYBB2c.558C>G (p.Ser186=)
gnomAD v4
22g.25231712C>TCA10158059CRYBB2c.558C>T (p.Ser186=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231713G>ACA10158060CRYBB2c.559G>A (p.Val187Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231713G>CCA410988368CRYBB2c.559G>C (p.Val187Leu)
22g.25231713G=CA2398638966CRYBB2c.559G= (p.Val187=)
22g.25231713G>TCA410988369CRYBB2c.559G>T (p.Val187Leu)
gnomAD v4
22g.25231714T>ACA410988370CRYBB2c.560T>A (p.Val187Glu)
22g.25231714T>CCA410988371CRYBB2c.560T>C (p.Val187Ala)
22g.25231714T>GCA16043149CRYBB2c.560T>G (p.Val187Gly)
dbSNP
22g.25231714T=CA2398638967CRYBB2c.560T= (p.Val187=)
22g.25231715G>ACA513894845CRYBB2c.561G>A (p.Val187=)
22g.25231715G>CCA513894846CRYBB2c.561G>C (p.Val187=)
22g.25231715G>TCA513894847CRYBB2c.561G>T (p.Val187=)
22g.25231716C>ACA410988372CRYBB2c.562C>A (p.Arg188Ser)
22g.25231716C>GCA410988373CRYBB2c.562C>G (p.Arg188Gly)
22g.25231716C>TCA410988374CRYBB2c.562C>T (p.Arg188Cys)
ClinVar dbSNP COSMIC
22g.25231717G>ACA10603566CRYBB2c.563G>A (p.Arg188His)
ClinVar dbSNP
22g.25231717G>CCA410988375CRYBB2c.563G>C (p.Arg188Pro)
22g.25231717G=CA2398638968CRYBB2c.563G= (p.Arg188=)
22g.25231717G>TCA16609314CRYBB2c.563G>T (p.Arg188Leu)
ClinVar dbSNP
22g.25231718C>ACA513894850CRYBB2c.564C>A (p.Arg188=)
22g.25231718C>GCA513894848CRYBB2c.564C>G (p.Arg188=)
22g.25231718C>TCA513894849CRYBB2c.564C>T (p.Arg188=)
22g.25231719C>ACA410988376CRYBB2c.565C>A (p.Arg189Ser)
COSMIC
22g.25231719C=CA2398638969CRYBB2c.565C= (p.Arg189=)
22g.25231719C>GCA410988377CRYBB2c.565C>G (p.Arg189Gly)
22g.25231719C>TCA10158061CRYBB2c.565C>T (p.Arg189Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231719_25231726delinsTGCATCCACA2499226042CRYBB2c.565_572delinsTGCATCCA (p.Arg189_Arg191delinsCysIleHis)
ClinVar dbSNP
22g.25231720G>ACA10158062CRYBB2c.566G>A (p.Arg189His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231720G>CCA410988378CRYBB2c.566G>C (p.Arg189Pro)
22g.25231720G=CA2398638970CRYBB2c.566G= (p.Arg189=)
22g.25231720G>TCA410988379CRYBB2c.566G>T (p.Arg189Leu)
dbSNP COSMIC
22g.25231721T>ACA513894851CRYBB2c.567T>A (p.Arg189=)
22g.25231721T>CCA513894852CRYBB2c.567T>C (p.Arg189=)
gnomAD v4
22g.25231721T>GCA513894853CRYBB2c.567T>G (p.Arg189=)
22g.25231722A=CA2398638971CRYBB2c.568A= (p.Ile190=)
22g.25231722A>CCA410988380CRYBB2c.568A>C (p.Ile190Leu)
22g.25231722A>GCA410988382CRYBB2c.568A>G (p.Ile190Val)
dbSNP gnomAD v3 gnomAD v4
22g.25231722A>TCA410988381CRYBB2c.568A>T (p.Ile190Phe)
22g.25231723T>ACA410988383CRYBB2c.569T>A (p.Ile190Asn)
22g.25231723T>CCA410988384CRYBB2c.569T>C (p.Ile190Thr)
22g.25231723T>GCA410988385CRYBB2c.569T>G (p.Ile190Ser)
22g.25231724C>ACA513894854CRYBB2c.570C>A (p.Ile190=)
gnomAD v4 COSMIC
22g.25231724C>GCA410988386CRYBB2c.570C>G (p.Ile190Met)
22g.25231724C>TCA513894855CRYBB2c.570C>T (p.Ile190=)
22g.25231725C>ACA410988387CRYBB2c.571C>A (p.Arg191Ser)
22g.25231725C=CA2398638972CRYBB2c.571C= (p.Arg191=)
22g.25231725C>GCA10158064CRYBB2c.571C>G (p.Arg191Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.25231725C>TCA10158063CRYBB2c.571C>T (p.Arg191Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.25231726G>ACA10158065CRYBB2c.572G>A (p.Arg191His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231726G>CCA410988388CRYBB2c.572G>C (p.Arg191Pro)
22g.25231726G=CA2398638973CRYBB2c.572G= (p.Arg191=)
22g.25231726G>TCA410988389CRYBB2c.572G>T (p.Arg191Leu)
COSMIC
22g.25231727C>ACA513894856CRYBB2c.573C>A (p.Arg191=)
22g.25231727C=CA2398638974CRYBB2c.573C= (p.Arg191=)
22g.25231727C>GCA513894857CRYBB2c.573C>G (p.Arg191=)
22g.25231727C>TCA10158066CRYBB2c.573C>T (p.Arg191=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231728G>ACA10158067CRYBB2c.574G>A (p.Asp192Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231728G>CCA410988391CRYBB2c.574G>C (p.Asp192His)
22g.25231728G=CA2398638975CRYBB2c.574G= (p.Asp192=)
22g.25231728G>TCA410988390CRYBB2c.574G>T (p.Asp192Tyr)
22g.25231729A>CCA410988392CRYBB2c.575A>C (p.Asp192Ala)
22g.25231729A>GCA410988393CRYBB2c.575A>G (p.Asp192Gly)
22g.25231729A>TCA410988394CRYBB2c.575A>T (p.Asp192Val)
22g.25231730C>ACA410988395CRYBB2c.576C>A (p.Asp192Glu)
22g.25231730C=CA2398638976CRYBB2c.576C= (p.Asp192=)
22g.25231730C>GCA410988396CRYBB2c.576C>G (p.Asp192Glu)
22g.25231730C>TCA10158068CRYBB2c.576C>T (p.Asp192=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.25231731A>CCA410988397CRYBB2c.577A>C (p.Met193Leu)
22g.25231731A>GCA410988398CRYBB2c.577A>G (p.Met193Val)
gnomAD v4
22g.25231731A>TCA410988399CRYBB2c.577A>T (p.Met193Leu)
22g.25231732T>ACA410988400CRYBB2c.578T>A (p.Met193Lys)
22g.25231732T>CCA410988401CRYBB2c.578T>C (p.Met193Thr)
dbSNP gnomAD v4
22g.25231732T>GCA410988402CRYBB2c.578T>G (p.Met193Arg)
22g.25231732T=CA2398638977CRYBB2c.578T= (p.Met193=)
22g.25231733G>ACA410988405CRYBB2c.579G>A (p.Met193Ile)
22g.25231733G>CCA410988404CRYBB2c.579G>C (p.Met193Ile)
22g.25231733G>TCA410988403CRYBB2c.579G>T (p.Met193Ile)
22g.25231734C>ACA410988406CRYBB2c.580C>A (p.Gln194Lys)
22g.25231734C=CA2398638978CRYBB2c.580C= (p.Gln194=)
22g.25231734C>GCA410988408CRYBB2c.580C>G (p.Gln194Glu)
22g.25231734C>TCA410988407CRYBB2c.580C>T (p.Gln194Ter)
22g.25231735A>CCA410988409CRYBB2c.581A>C (p.Gln194Pro)
22g.25231735A>GCA410988410CRYBB2c.581A>G (p.Gln194Arg)
gnomAD v4
22g.25231735A>TCA410988411CRYBB2c.581A>T (p.Gln194Leu)
22g.25231735dupCA638953161CRYBB2c.581dup (p.Trp195ValfsTer?)
dbSNP gnomAD v2 gnomAD v4
22g.25231736G>ACA513894858CRYBB2c.582G>A (p.Gln194=)
gnomAD v4
22g.25231736G>CCA410988412CRYBB2c.582G>C (p.Gln194His)
22g.25231736G>TCA410988413CRYBB2c.582G>T (p.Gln194His)
22g.25231737T>ACA410988414CRYBB2c.583T>A (p.Trp195Arg)
22g.25231737T>CCA410988415CRYBB2c.583T>C (p.Trp195Arg)
22g.25231737T>GCA249997CRYBB2c.583T>G (p.Trp195Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231737T=CA2398638979CRYBB2c.583T= (p.Trp195=)
22g.25231738G>ACA410988416CRYBB2c.584G>A (p.Trp195Ter)
22g.25231738G>CCA410988417CRYBB2c.584G>C (p.Trp195Ser)
22g.25231738G>TCA410988418CRYBB2c.584G>T (p.Trp195Leu)
22g.25231739G>ACA410988421CRYBB2c.585G>A (p.Trp195Ter)
22g.25231739G>CCA410988419CRYBB2c.585G>C (p.Trp195Cys)
22g.25231739G>TCA410988420CRYBB2c.585G>T (p.Trp195Cys)
22g.25231740C>ACA410988422CRYBB2c.586C>A (p.His196Asn)
22g.25231740C>GCA410988423CRYBB2c.586C>G (p.His196Asp)
22g.25231740C>TCA410988424CRYBB2c.586C>T (p.His196Tyr)
22g.25231741A=CA2398638980CRYBB2c.587A= (p.His196=)
22g.25231741A>CCA410988425CRYBB2c.587A>C (p.His196Pro)
22g.25231741A>GCA410988426CRYBB2c.587A>G (p.His196Arg)
dbSNP
22g.25231741A>TCA410988427CRYBB2c.587A>T (p.His196Leu)
22g.25231742C>ACA410988428CRYBB2c.588C>A (p.His196Gln)
22g.25231742C=CA2398638981CRYBB2c.588C= (p.His196=)
22g.25231742C>GCA10158069CRYBB2c.588C>G (p.His196Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.25231742C>TCA513894859CRYBB2c.588C>T (p.His196=)
22g.25231743C>ACA410988429CRYBB2c.589C>A (p.Gln197Lys)
dbSNP gnomAD v2 gnomAD v4
22g.25231743C=CA2398638982CRYBB2c.589C= (p.Gln197=)
22g.25231743C>GCA410988430CRYBB2c.589C>G (p.Gln197Glu)
22g.25231743C>TCA410988431CRYBB2c.589C>T (p.Gln197Ter)
gnomAD v4
22g.25231744A>CCA410988433CRYBB2c.590A>C (p.Gln197Pro)
22g.25231744A>GCA410988434CRYBB2c.590A>G (p.Gln197Arg)
22g.25231744A>TCA410988432CRYBB2c.590A>T (p.Gln197Leu)
22g.25231744_25231745insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCGCA2818573158CRYBB2c.590_591insCTGCTGGAGAAGGGAGACTACAAGGACAGCAGCG (p.Gln197HisfsTer?)
22g.25231745A=CA2398638983CRYBB2c.591A= (p.Gln197=)
22g.25231745A>CCA410988435CRYBB2c.591A>C (p.Gln197His)
22g.25231745A>GCA513894860CRYBB2c.591A>G (p.Gln197=)
dbSNP gnomAD v2 gnomAD v4
22g.25231745A>TCA410988436CRYBB2c.591A>T (p.Gln197His)
22g.25231746C>ACA410988437CRYBB2c.592C>A (p.Arg198Ser)
dbSNP
22g.25231746C=CA2398638984CRYBB2c.592C= (p.Arg198=)
22g.25231746C>GCA410988438CRYBB2c.592C>G (p.Arg198Gly)
gnomAD v4
22g.25231746C>TCA10158070CRYBB2c.592C>T (p.Arg198Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.25231747G>ACA410988439CRYBB2c.593G>A (p.Arg198His)
dbSNP gnomAD v2 gnomAD v4
22g.25231747G>CCA410988440CRYBB2c.593G>C (p.Arg198Pro)
dbSNP gnomAD v3 gnomAD v4
22g.25231747G=CA2398638985CRYBB2c.593G= (p.Arg198=)
22g.25231747G>TCA410988441CRYBB2c.593G>T (p.Arg198Leu)
gnomAD v4
22g.25231748T>ACA513894863CRYBB2c.594T>A (p.Arg198=)
22g.25231748T>CCA513894862CRYBB2c.594T>C (p.Arg198=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.25231748T>GCA513894861CRYBB2c.594T>G (p.Arg198=)
22g.25231748T=CA2398638987CRYBB2c.594T= (p.Arg198=)
22g.25231748_25231749delinsTGCA2398638986CRYBB2c.594_595delinsTG (p.Arg198=)
22g.25231749G>ACA410988442CRYBB2c.595G>A (p.Gly199Ser)
22g.25231749G>CCA410988443CRYBB2c.595G>C (p.Gly199Arg)
22g.25231749G>TCA410988444CRYBB2c.595G>T (p.Gly199Cys)
22g.25231750delCA10158071CRYBB2c.596del (p.Gly199ValfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231750G>ACA410988446CRYBB2c.596G>A (p.Gly199Asp)
gnomAD v4
22g.25231750G>CCA410988447CRYBB2c.596G>C (p.Gly199Ala)
dbSNP gnomAD v3 gnomAD v4
22g.25231750G=CA2398638988CRYBB2c.596G= (p.Gly199=)
22g.25231750G>TCA410988445CRYBB2c.596G>T (p.Gly199Val)
gnomAD v4
22g.25231751T>ACA513894864CRYBB2c.597T>A (p.Gly199=)
dbSNP gnomAD v2 gnomAD v4
22g.25231751T>CCA513894865CRYBB2c.597T>C (p.Gly199=)
22g.25231751T>GCA513894866CRYBB2c.597T>G (p.Gly199=)
22g.25231751T=CA2398638989CRYBB2c.597T= (p.Gly199=)
22g.25231752G>ACA410988448CRYBB2c.598G>A (p.Ala200Thr)
22g.25231752G>CCA410988449CRYBB2c.598G>C (p.Ala200Pro)
22g.25231752G>TCA410988450CRYBB2c.598G>T (p.Ala200Ser)
22g.25231753C>ACA410988451CRYBB2c.599C>A (p.Ala200Asp)
22g.25231753C>GCA410988452CRYBB2c.599C>G (p.Ala200Gly)
22g.25231753C>TCA410988453CRYBB2c.599C>T (p.Ala200Val)
22g.25231754C>ACA513894867CRYBB2c.600C>A (p.Ala200=)
22g.25231754C>GCA513894868CRYBB2c.600C>G (p.Ala200=)
22g.25231754C>TCA513894869CRYBB2c.600C>T (p.Ala200=)
COSMIC
22g.25231755T>ACA410988456CRYBB2c.601T>A (p.Phe201Ile)
dbSNP gnomAD v4
22g.25231755T>CCA410988454CRYBB2c.601T>C (p.Phe201Leu)
22g.25231755T>GCA410988455CRYBB2c.601T>G (p.Phe201Val)
22g.25231755T=CA2398638990CRYBB2c.601T= (p.Phe201=)
22g.25231756T>ACA410988457CRYBB2c.602T>A (p.Phe201Tyr)
22g.25231756T>CCA410988458CRYBB2c.602T>C (p.Phe201Ser)
22g.25231756T>GCA410988459CRYBB2c.602T>G (p.Phe201Cys)
22g.25231757C>ACA410988460CRYBB2c.603C>A (p.Phe201Leu)
22g.25231757C>GCA410988461CRYBB2c.603C>G (p.Phe201Leu)
22g.25231757C>TCA513894874CRYBB2c.603C>T (p.Phe201=)
gnomAD v4
22g.25231758C>ACA410988462CRYBB2c.604C>A (p.His202Asn)
22g.25231758C=CA2398638991CRYBB2c.604C= (p.His202=)
22g.25231758C>GCA410988463CRYBB2c.604C>G (p.His202Asp)
22g.25231758C>TCA10158072CRYBB2c.604C>T (p.His202Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.25231759A>CCA410988464CRYBB2c.605A>C (p.His202Pro)
22g.25231759A>GCA410988466CRYBB2c.605A>G (p.His202Arg)
gnomAD v4
22g.25231759A>TCA410988465CRYBB2c.605A>T (p.His202Leu)
22g.25231760C>ACA410988467CRYBB2c.606C>A (p.His202Gln)
dbSNP gnomAD v3 gnomAD v4
22g.25231760C=CA2398638992CRYBB2c.606C= (p.His202=)
22g.25231760C>GCA410988468CRYBB2c.606C>G (p.His202Gln)
22g.25231760C>TCA513894875CRYBB2c.606C>T (p.His202=)
22g.25231761C>ACA410988469CRYBB2c.607C>A (p.Pro203Thr)
gnomAD v4
22g.25231761C>GCA410988471CRYBB2c.607C>G (p.Pro203Ala)
22g.25231761C>TCA410988470CRYBB2c.607C>T (p.Pro203Ser)
22g.25231762C>ACA322757377CRYBB2c.608C>A (p.Pro203His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.25231762C=CA2398638993CRYBB2c.608C= (p.Pro203=)
22g.25231762C>GCA410988473CRYBB2c.608C>G (p.Pro203Arg)
22g.25231762C>TCA410988472CRYBB2c.608C>T (p.Pro203Leu)
COSMIC
22g.25231763C>ACA513894877CRYBB2c.609C>A (p.Pro203=)
22g.25231763C=CA2398638994CRYBB2c.609C= (p.Pro203=)
22g.25231763C>GCA513894878CRYBB2c.609C>G (p.Pro203=)
22g.25231763C>TCA513894876CRYBB2c.609C>T (p.Pro203=)
dbSNP gnomAD v4

Number of alleles fetched