Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.31184388_31184941delCA2573130373FUSc.515_526del
c.512_523del
n.580_591del
c.511+4_514del
n.620_631del
c.-66_-55del
c.515_520del
c.-60_-55del
c.512_517del
16g.31184927_31184930delCA8023695FUSc.524-12_524-9del (n.524-12_524-9del)
c.521-12_521-9del (n.521-12_521-9del)
n.589-12_589-9del
c.512-12_512-9del (n.512-12_512-9del)
n.629-12_629-9del
c.-57-12_-57-9del (n.-57-12_-57-9del)
c.518-12_518-9del (n.518-12_518-9del)
c.515-12_515-9del (n.515-12_515-9del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31184931delCA622172594FUSc.524-8del (n.524-8del)
c.521-8del (n.521-8del)
n.589-8del
c.512-8del (n.512-8del)
n.629-8del
c.-57-8del (n.-57-8del)
c.518-8del (n.518-8del)
c.515-8del (n.515-8del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31184930T>CCA2632838893FUSc.524-9T>C (n.524-9T>C)
c.521-9T>C (n.521-9T>C)
n.589-9T>C
c.512-9T>C (n.512-9T>C)
n.629-9T>C
c.-57-9T>C (n.-57-9T>C)
c.518-9T>C (n.518-9T>C)
c.515-9T>C (n.515-9T>C)
gnomAD v4
16g.31184931T>CCA8023700FUSc.524-8T>C (n.524-8T>C)
c.521-8T>C (n.521-8T>C)
n.589-8T>C
c.512-8T>C (n.512-8T>C)
n.629-8T>C
c.-57-8T>C (n.-57-8T>C)
c.518-8T>C (n.518-8T>C)
c.515-8T>C (n.515-8T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31184931T=CA2216944349FUSc.524-8T= (n.524-8T=)
c.521-8T= (n.521-8T=)
n.589-8T=
c.512-8T= (n.512-8T=)
n.629-8T=
c.-57-8T= (n.-57-8T=)
c.518-8T= (n.518-8T=)
c.515-8T= (n.515-8T=)
16g.31184932C>ACA2632838896FUSc.524-7C>A (n.524-7C>A)
c.521-7C>A (n.521-7C>A)
n.589-7C>A
c.512-7C>A (n.512-7C>A)
n.629-7C>A
c.-57-7C>A (n.-57-7C>A)
c.518-7C>A (n.518-7C>A)
c.515-7C>A (n.515-7C>A)
gnomAD v4
16g.31184932C=CA2216944359FUSc.524-7C= (n.524-7C=)
c.521-7C= (n.521-7C=)
n.589-7C=
c.512-7C= (n.512-7C=)
n.629-7C=
c.-57-7C= (n.-57-7C=)
c.518-7C= (n.518-7C=)
c.515-7C= (n.515-7C=)
16g.31184932C>GCA8023701FUSc.524-7C>G (n.524-7C>G)
c.521-7C>G (n.521-7C>G)
n.589-7C>G
c.512-7C>G (n.512-7C>G)
n.629-7C>G
c.-57-7C>G (n.-57-7C>G)
c.518-7C>G (n.518-7C>G)
c.515-7C>G (n.515-7C>G)
dbSNP ExAC gnomAD v2
16g.31184932C>TCA280594610FUSc.524-7C>T (n.524-7C>T)
c.521-7C>T (n.521-7C>T)
n.589-7C>T
c.512-7C>T (n.512-7C>T)
n.629-7C>T
c.-57-7C>T (n.-57-7C>T)
c.518-7C>T (n.518-7C>T)
c.515-7C>T (n.515-7C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31184934C>ACA2731880434FUSc.524-5C>A (n.524-5C>A)
c.521-5C>A (n.521-5C>A)
n.589-5C>A
c.512-5C>A (n.512-5C>A)
n.629-5C>A
c.-57-5C>A (n.-57-5C>A)
c.518-5C>A (n.518-5C>A)
c.515-5C>A (n.515-5C>A)
dbSNP
16g.31184934C=CA2216944594FUSc.524-5C= (n.524-5C=)
c.521-5C= (n.521-5C=)
n.589-5C=
c.512-5C= (n.512-5C=)
n.629-5C=
c.-57-5C= (n.-57-5C=)
c.518-5C= (n.518-5C=)
c.515-5C= (n.515-5C=)
16g.31184934C>TCA8023702FUSc.524-5C>T (n.524-5C>T)
c.521-5C>T (n.521-5C>T)
n.589-5C>T
c.512-5C>T (n.512-5C>T)
n.629-5C>T
c.-57-5C>T (n.-57-5C>T)
c.518-5C>T (n.518-5C>T)
c.515-5C>T (n.515-5C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31184935A=CA2216944604FUSc.524-4A= (n.524-4A=)
c.521-4A= (n.521-4A=)
n.589-4A=
c.512-4A= (n.512-4A=)
n.629-4A=
c.-57-4A= (n.-57-4A=)
c.518-4A= (n.518-4A=)
c.515-4A= (n.515-4A=)
16g.31184935A>CCA2632838904FUSc.524-4A>C (n.524-4A>C)
c.521-4A>C (n.521-4A>C)
n.589-4A>C
c.512-4A>C (n.512-4A>C)
n.629-4A>C
c.-57-4A>C (n.-57-4A>C)
c.518-4A>C (n.518-4A>C)
c.515-4A>C (n.515-4A>C)
gnomAD v4
16g.31184935A>GCA2216944606FUSc.524-4A>G (n.524-4A>G)
c.521-4A>G (n.521-4A>G)
n.589-4A>G
c.512-4A>G (n.512-4A>G)
n.629-4A>G
c.-57-4A>G (n.-57-4A>G)
c.518-4A>G (n.518-4A>G)
c.515-4A>G (n.515-4A>G)
dbSNP gnomAD v4
16g.31184935A>TCA976356909FUSc.524-4A>T (n.524-4A>T)
c.521-4A>T (n.521-4A>T)
n.589-4A>T
c.512-4A>T (n.512-4A>T)
n.629-4A>T
c.-57-4A>T (n.-57-4A>T)
c.518-4A>T (n.518-4A>T)
c.515-4A>T (n.515-4A>T)
gnomAD v3 gnomAD v4
16g.31184937A>CCA395669457FUSc.524-2A>C (n.524-2A>C)
c.521-2A>C (n.521-2A>C)
n.589-2A>C
c.512-2A>C (n.512-2A>C)
n.629-2A>C
c.-57-2A>C (n.-57-2A>C)
c.518-2A>C (n.518-2A>C)
c.515-2A>C (n.515-2A>C)
16g.31184937A>GCA395669451FUSc.524-2A>G (n.524-2A>G)
c.521-2A>G (n.521-2A>G)
n.589-2A>G
c.512-2A>G (n.512-2A>G)
n.629-2A>G
c.-57-2A>G (n.-57-2A>G)
c.518-2A>G (n.518-2A>G)
c.515-2A>G (n.515-2A>G)
16g.31184937A>TCA395669454FUSc.524-2A>T (n.524-2A>T)
c.521-2A>T (n.521-2A>T)
n.589-2A>T
c.512-2A>T (n.512-2A>T)
n.629-2A>T
c.-57-2A>T (n.-57-2A>T)
c.518-2A>T (n.518-2A>T)
c.515-2A>T (n.515-2A>T)
16g.31184938G>ACA395669460FUSc.524-1G>A (n.524-1G>A)
c.521-1G>A (n.521-1G>A)
n.589-1G>A
c.512-1G>A (n.512-1G>A)
n.629-1G>A
c.-57-1G>A (n.-57-1G>A)
c.518-1G>A (n.518-1G>A)
c.515-1G>A (n.515-1G>A)
16g.31184938G>CCA395669461FUSc.524-1G>C (n.524-1G>C)
c.521-1G>C (n.521-1G>C)
n.589-1G>C
c.512-1G>C (n.512-1G>C)
n.629-1G>C
c.-57-1G>C (n.-57-1G>C)
c.518-1G>C (n.518-1G>C)
c.515-1G>C (n.515-1G>C)
16g.31184938G>TCA395669464FUSc.524-1G>T (n.524-1G>T)
c.521-1G>T (n.521-1G>T)
n.589-1G>T
c.512-1G>T (n.512-1G>T)
n.629-1G>T
c.-57-1G>T (n.-57-1G>T)
c.518-1G>T (n.518-1G>T)
c.515-1G>T (n.515-1G>T)
16g.31184939G>ACA395669465FUSc.524G>A (p.Gly175Asp)
c.521G>A (p.Gly174Asp)
n.589G>A
c.512G>A (p.Gly171Asp)
n.629G>A
c.-57G>A (n.-57G>A)
c.518G>A (p.Gly173Asp)
c.515G>A (p.Gly172Asp)
gnomAD v4
16g.31184939G>CCA395669468FUSc.524G>C (p.Gly175Ala)
c.521G>C (p.Gly174Ala)
n.589G>C
c.512G>C (p.Gly171Ala)
n.629G>C
c.-57G>C (n.-57G>C)
c.518G>C (p.Gly173Ala)
c.515G>C (p.Gly172Ala)
dbSNP
16g.31184939G>TCA395669470FUSc.524G>T (p.Gly175Val)
c.521G>T (p.Gly174Val)
n.589G>T
c.512G>T (p.Gly171Val)
n.629G>T
c.-57G>T (n.-57G>T)
c.518G>T (p.Gly173Val)
c.515G>T (p.Gly172Val)
16g.31184940T>ACA494928615FUSc.525T>A (p.Gly175=)
c.522T>A (p.Gly174=)
n.590T>A
c.513T>A (p.Gly171=)
n.630T>A
c.-56T>A (n.-56T>A)
c.519T>A (p.Gly173=)
c.516T>A (p.Gly172=)
16g.31184940T>CCA494928616FUSc.525T>C (p.Gly175=)
c.522T>C (p.Gly174=)
n.590T>C
c.513T>C (p.Gly171=)
n.630T>C
c.-56T>C (n.-56T>C)
c.519T>C (p.Gly173=)
c.516T>C (p.Gly172=)
16g.31184940T>GCA494928617FUSc.525T>G (p.Gly175=)
c.522T>G (p.Gly174=)
n.590T>G
c.513T>G (p.Gly171=)
n.630T>G
c.-56T>G (n.-56T>G)
c.519T>G (p.Gly173=)
c.516T>G (p.Gly172=)
16g.31184941A>CCA395669474FUSc.526A>C (p.Asn176His)
c.523A>C (p.Asn175His)
n.591A>C
c.514A>C (p.Asn172His)
n.631A>C
c.-55A>C (n.-55A>C)
c.520A>C (p.Asn174His)
c.517A>C (p.Asn173His)
16g.31184941A>GCA395669475FUSc.526A>G (p.Asn176Asp)
c.523A>G (p.Asn175Asp)
n.591A>G
c.514A>G (p.Asn172Asp)
n.631A>G
c.-55A>G (n.-55A>G)
c.520A>G (p.Asn174Asp)
c.517A>G (p.Asn173Asp)
gnomAD v4
16g.31184941A>TCA395669478FUSc.526A>T (p.Asn176Tyr)
c.523A>T (p.Asn175Tyr)
n.591A>T
c.514A>T (p.Asn172Tyr)
n.631A>T
c.-55A>T (n.-55A>T)
c.520A>T (p.Asn174Tyr)
c.517A>T (p.Asn173Tyr)
16g.31184942A=CA2216944608FUSc.527A= (p.Asn176=)
c.524A= (p.Asn175=)
n.592A=
c.515A= (p.Asn172=)
n.632A=
c.-54A= (n.-54A=)
c.521A= (p.Asn174=)
c.518A= (p.Asn173=)
16g.31184942A>CCA395669481FUSc.527A>C (p.Asn176Thr)
c.524A>C (p.Asn175Thr)
n.592A>C
c.515A>C (p.Asn172Thr)
n.632A>C
c.-54A>C (n.-54A>C)
c.521A>C (p.Asn174Thr)
c.518A>C (p.Asn173Thr)
16g.31184942A>GCA395669484FUSc.527A>G (p.Asn176Ser)
c.524A>G (p.Asn175Ser)
n.592A>G
c.515A>G (p.Asn172Ser)
n.632A>G
c.-54A>G (n.-54A>G)
c.521A>G (p.Asn174Ser)
c.518A>G (p.Asn173Ser)
dbSNP
16g.31184942A>TCA395669489FUSc.527A>T (p.Asn176Ile)
c.524A>T (p.Asn175Ile)
n.592A>T
c.515A>T (p.Asn172Ile)
n.632A>T
c.-54A>T (n.-54A>T)
c.521A>T (p.Asn174Ile)
c.518A>T (p.Asn173Ile)
16g.31184943C>ACA395669492FUSc.528C>A (p.Asn176Lys)
c.525C>A (p.Asn175Lys)
n.593C>A
c.516C>A (p.Asn172Lys)
n.633C>A
c.-53C>A (n.-53C>A)
c.522C>A (p.Asn174Lys)
c.519C>A (p.Asn173Lys)
16g.31184943C=CA2216944611FUSc.528C= (p.Asn176=)
c.525C= (p.Asn175=)
n.593C=
c.516C= (p.Asn172=)
n.633C=
c.-53C= (n.-53C=)
c.522C= (p.Asn174=)
c.519C= (p.Asn173=)
16g.31184943C>GCA395669495FUSc.528C>G (p.Asn176Lys)
c.525C>G (p.Asn175Lys)
n.593C>G
c.516C>G (p.Asn172Lys)
n.633C>G
c.-53C>G (n.-53C>G)
c.522C>G (p.Asn174Lys)
c.519C>G (p.Asn173Lys)
dbSNP gnomAD v2 gnomAD v4
16g.31184943C>TCA494928619FUSc.528C>T (p.Asn176=)
c.525C>T (p.Asn175=)
n.593C>T
c.516C>T (p.Asn172=)
n.633C>T
c.-53C>T (n.-53C>T)
c.522C>T (p.Asn174=)
c.519C>T (p.Asn173=)
dbSNP gnomAD v4
16g.31184944T>ACA395669498FUSc.529T>A (p.Tyr177Asn)
c.526T>A (p.Tyr176Asn)
n.594T>A
c.517T>A (p.Tyr173Asn)
n.634T>A
c.-52T>A (n.-52T>A)
c.523T>A (p.Tyr175Asn)
c.520T>A (p.Tyr174Asn)
16g.31184944T>CCA8023703FUSc.529T>C (p.Tyr177His)
c.526T>C (p.Tyr176His)
n.594T>C
c.517T>C (p.Tyr173His)
n.634T>C
c.-52T>C (n.-52T>C)
c.523T>C (p.Tyr175His)
c.520T>C (p.Tyr174His)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31184944T>GCA395669504FUSc.529T>G (p.Tyr177Asp)
c.526T>G (p.Tyr176Asp)
n.594T>G
c.517T>G (p.Tyr173Asp)
n.634T>G
c.-52T>G (n.-52T>G)
c.523T>G (p.Tyr175Asp)
c.520T>G (p.Tyr174Asp)
16g.31184944T=CA2216944615FUSc.529T= (p.Tyr177=)
c.526T= (p.Tyr176=)
n.594T=
c.517T= (p.Tyr173=)
n.634T=
c.-52T= (n.-52T=)
c.523T= (p.Tyr175=)
c.520T= (p.Tyr174=)
16g.31184945A=CA2216944617FUSc.530A= (p.Tyr177=)
c.527A= (p.Tyr176=)
n.595A=
c.518A= (p.Tyr173=)
n.635A=
c.-51A= (n.-51A=)
c.524A= (p.Tyr175=)
c.521A= (p.Tyr174=)
16g.31184945A>CCA395669506FUSc.530A>C (p.Tyr177Ser)
c.527A>C (p.Tyr176Ser)
n.595A>C
c.518A>C (p.Tyr173Ser)
n.635A>C
c.-51A>C (n.-51A>C)
c.524A>C (p.Tyr175Ser)
c.521A>C (p.Tyr174Ser)
16g.31184945A>GCA8023704FUSc.530A>G (p.Tyr177Cys)
c.527A>G (p.Tyr176Cys)
n.595A>G
c.518A>G (p.Tyr173Cys)
n.635A>G
c.-51A>G (n.-51A>G)
c.524A>G (p.Tyr175Cys)
c.521A>G (p.Tyr174Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31184945A>TCA395669510FUSc.530A>T (p.Tyr177Phe)
c.527A>T (p.Tyr176Phe)
n.595A>T
c.518A>T (p.Tyr173Phe)
n.635A>T
c.-51A>T (n.-51A>T)
c.524A>T (p.Tyr175Phe)
c.521A>T (p.Tyr174Phe)
16g.31184946T>ACA395669513FUSc.531T>A (p.Tyr177Ter)
c.528T>A (p.Tyr176Ter)
n.596T>A
c.519T>A (p.Tyr173Ter)
n.636T>A
c.-50T>A (n.-50T>A)
c.525T>A (p.Tyr175Ter)
c.522T>A (p.Tyr174Ter)
16g.31184946T>CCA494928620FUSc.531T>C (p.Tyr177=)
c.528T>C (p.Tyr176=)
n.596T>C
c.519T>C (p.Tyr173=)
n.636T>C
c.-50T>C (n.-50T>C)
c.525T>C (p.Tyr175=)
c.522T>C (p.Tyr174=)
COSMIC COSMIC
16g.31184946T>GCA395669514FUSc.531T>G (p.Tyr177Ter)
c.528T>G (p.Tyr176Ter)
n.596T>G
c.519T>G (p.Tyr173Ter)
n.636T>G
c.-50T>G (n.-50T>G)
c.525T>G (p.Tyr175Ter)
c.522T>G (p.Tyr174Ter)
16g.31184947G>ACA8023705FUSc.532G>A (p.Gly178Ser)
c.529G>A (p.Gly177Ser)
n.597G>A
c.520G>A (p.Gly174Ser)
n.637G>A
c.-49G>A (n.-49G>A)
c.526G>A (p.Gly176Ser)
c.523G>A (p.Gly175Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31184947G>CCA395669517FUSc.532G>C (p.Gly178Arg)
c.529G>C (p.Gly177Arg)
n.597G>C
c.520G>C (p.Gly174Arg)
n.637G>C
c.-49G>C (n.-49G>C)
c.526G>C (p.Gly176Arg)
c.523G>C (p.Gly175Arg)
16g.31184947G=CA2216944622FUSc.532G= (p.Gly178=)
c.529G= (p.Gly177=)
n.597G=
c.520G= (p.Gly174=)
n.637G=
c.-49G= (n.-49G=)
c.526G= (p.Gly176=)
c.523G= (p.Gly175=)
16g.31184947G>TCA395669519FUSc.532G>T (p.Gly178Cys)
c.529G>T (p.Gly177Cys)
n.597G>T
c.520G>T (p.Gly174Cys)
n.637G>T
c.-49G>T (n.-49G>T)
c.526G>T (p.Gly176Cys)
c.523G>T (p.Gly175Cys)
16g.31184948G>ACA395669527FUSc.533G>A (p.Gly178Asp)
c.530G>A (p.Gly177Asp)
n.598G>A
c.521G>A (p.Gly174Asp)
n.638G>A
c.-48G>A (n.-48G>A)
c.527G>A (p.Gly176Asp)
c.524G>A (p.Gly175Asp)
gnomAD v4
16g.31184948G>CCA395669525FUSc.533G>C (p.Gly178Ala)
c.530G>C (p.Gly177Ala)
n.598G>C
c.521G>C (p.Gly174Ala)
n.638G>C
c.-48G>C (n.-48G>C)
c.527G>C (p.Gly176Ala)
c.524G>C (p.Gly175Ala)
16g.31184948G>TCA395669523FUSc.533G>T (p.Gly178Val)
c.530G>T (p.Gly177Val)
n.598G>T
c.521G>T (p.Gly174Val)
n.638G>T
c.-48G>T (n.-48G>T)
c.527G>T (p.Gly176Val)
c.524G>T (p.Gly175Val)
16g.31184949C>ACA494928622FUSc.534C>A (p.Gly178=)
c.531C>A (p.Gly177=)
n.599C>A
c.522C>A (p.Gly174=)
n.639C>A
c.-47C>A (n.-47C>A)
c.528C>A (p.Gly176=)
c.525C>A (p.Gly175=)
16g.31184949C>GCA494928623FUSc.534C>G (p.Gly178=)
c.531C>G (p.Gly177=)
n.599C>G
c.522C>G (p.Gly174=)
n.639C>G
c.-47C>G (n.-47C>G)
c.528C>G (p.Gly176=)
c.525C>G (p.Gly175=)
16g.31184949C>TCA494928625FUSc.534C>T (p.Gly178=)
c.531C>T (p.Gly177=)
n.599C>T
c.522C>T (p.Gly174=)
n.639C>T
c.-47C>T (n.-47C>T)
c.528C>T (p.Gly176=)
c.525C>T (p.Gly175=)
gnomAD v4
16g.31184950C>ACA395669530FUSc.535C>A (p.Gln179Lys)
c.532C>A (p.Gln178Lys)
n.600C>A
c.523C>A (p.Gln175Lys)
n.640C>A
c.-46C>A (n.-46C>A)
c.529C>A (p.Gln177Lys)
c.526C>A (p.Gln176Lys)
16g.31184950C>GCA395669531FUSc.535C>G (p.Gln179Glu)
c.532C>G (p.Gln178Glu)
n.600C>G
c.523C>G (p.Gln175Glu)
n.640C>G
c.-46C>G (n.-46C>G)
c.529C>G (p.Gln177Glu)
c.526C>G (p.Gln176Glu)
16g.31184950C>TCA395669534FUSc.535C>T (p.Gln179Ter)
c.532C>T (p.Gln178Ter)
n.600C>T
c.523C>T (p.Gln175Ter)
n.640C>T
c.-46C>T (n.-46C>T)
c.529C>T (p.Gln177Ter)
c.526C>T (p.Gln176Ter)
16g.31184951A=CA2216944624FUSc.536A= (p.Gln179=)
c.533A= (p.Gln178=)
n.601A=
c.524A= (p.Gln175=)
n.641A=
c.-45A= (n.-45A=)
c.530A= (p.Gln177=)
c.527A= (p.Gln176=)
16g.31184951A>CCA395669537FUSc.536A>C (p.Gln179Pro)
c.533A>C (p.Gln178Pro)
n.601A>C
c.524A>C (p.Gln175Pro)
n.641A>C
c.-45A>C (n.-45A>C)
c.530A>C (p.Gln177Pro)
c.527A>C (p.Gln176Pro)
16g.31184951A>GCA395669539FUSc.536A>G (p.Gln179Arg)
c.533A>G (p.Gln178Arg)
n.601A>G
c.524A>G (p.Gln175Arg)
n.641A>G
c.-45A>G (n.-45A>G)
c.530A>G (p.Gln177Arg)
c.527A>G (p.Gln176Arg)
dbSNP gnomAD v3 gnomAD v4
16g.31184951A>TCA395669541FUSc.536A>T (p.Gln179Leu)
c.533A>T (p.Gln178Leu)
n.601A>T
c.524A>T (p.Gln175Leu)
n.641A>T
c.-45A>T (n.-45A>T)
c.530A>T (p.Gln177Leu)
c.527A>T (p.Gln176Leu)
16g.31184952A=CA2216944627FUSc.537A= (p.Gln179=)
c.534A= (p.Gln178=)
n.602A=
c.525A= (p.Gln175=)
n.642A=
c.-44A= (n.-44A=)
c.531A= (p.Gln177=)
c.528A= (p.Gln176=)
16g.31184952A>CCA395669543FUSc.537A>C (p.Gln179His)
c.534A>C (p.Gln178His)
n.602A>C
c.525A>C (p.Gln175His)
n.642A>C
c.-44A>C (n.-44A>C)
c.531A>C (p.Gln177His)
c.528A>C (p.Gln176His)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.31184952A>GCA494928626FUSc.537A>G (p.Gln179=)
c.534A>G (p.Gln178=)
n.602A>G
c.525A>G (p.Gln175=)
n.642A>G
c.-44A>G (n.-44A>G)
c.531A>G (p.Gln177=)
c.528A>G (p.Gln176=)
dbSNP gnomAD v2 gnomAD v4
16g.31184952A>TCA395669546FUSc.537A>T (p.Gln179His)
c.534A>T (p.Gln178His)
n.602A>T
c.525A>T (p.Gln175His)
n.642A>T
c.-44A>T (n.-44A>T)
c.531A>T (p.Gln177His)
c.528A>T (p.Gln176His)
16g.31184953G>ACA395669548FUSc.538G>A (p.Asp180Asn)
c.535G>A (p.Asp179Asn)
n.603G>A
c.526G>A (p.Asp176Asn)
n.643G>A
c.-43G>A (n.-43G>A)
c.532G>A (p.Asp178Asn)
c.529G>A (p.Asp177Asn)
16g.31184953G>CCA395669550FUSc.538G>C (p.Asp180His)
c.535G>C (p.Asp179His)
n.603G>C
c.526G>C (p.Asp176His)
n.643G>C
c.-43G>C (n.-43G>C)
c.532G>C (p.Asp178His)
c.529G>C (p.Asp177His)
16g.31184953G>TCA395669552FUSc.538G>T (p.Asp180Tyr)
c.535G>T (p.Asp179Tyr)
n.603G>T
c.526G>T (p.Asp176Tyr)
n.643G>T
c.-43G>T (n.-43G>T)
c.532G>T (p.Asp178Tyr)
c.529G>T (p.Asp177Tyr)
16g.31184954A=CA2216944632FUSc.539A= (p.Asp180=)
c.536A= (p.Asp179=)
n.604A=
c.527A= (p.Asp176=)
n.644A=
c.-42A= (n.-42A=)
c.533A= (p.Asp178=)
c.530A= (p.Asp177=)
16g.31184954A>CCA395669556FUSc.539A>C (p.Asp180Ala)
c.536A>C (p.Asp179Ala)
n.604A>C
c.527A>C (p.Asp176Ala)
n.644A>C
c.-42A>C (n.-42A>C)
c.533A>C (p.Asp178Ala)
c.530A>C (p.Asp177Ala)
16g.31184954A>GCA395669558FUSc.539A>G (p.Asp180Gly)
c.536A>G (p.Asp179Gly)
n.604A>G
c.527A>G (p.Asp176Gly)
n.644A>G
c.-42A>G (n.-42A>G)
c.533A>G (p.Asp178Gly)
c.530A>G (p.Asp177Gly)
dbSNP gnomAD v4
16g.31184954A>TCA395669559FUSc.539A>T (p.Asp180Val)
c.536A>T (p.Asp179Val)
n.604A>T
c.527A>T (p.Asp176Val)
n.644A>T
c.-42A>T (n.-42A>T)
c.533A>T (p.Asp178Val)
c.530A>T (p.Asp177Val)
16g.31184955T>ACA395669562FUSc.540T>A (p.Asp180Glu)
c.537T>A (p.Asp179Glu)
n.605T>A
c.528T>A (p.Asp176Glu)
n.645T>A
c.-41T>A (n.-41T>A)
c.534T>A (p.Asp178Glu)
c.531T>A (p.Asp177Glu)
16g.31184955T>CCA494928628FUSc.540T>C (p.Asp180=)
c.537T>C (p.Asp179=)
n.605T>C
c.528T>C (p.Asp176=)
n.645T>C
c.-41T>C (n.-41T>C)
c.534T>C (p.Asp178=)
c.531T>C (p.Asp177=)
16g.31184955T>GCA395669564FUSc.540T>G (p.Asp180Glu)
c.537T>G (p.Asp179Glu)
n.605T>G
c.528T>G (p.Asp176Glu)
n.645T>G
c.-41T>G (n.-41T>G)
c.534T>G (p.Asp178Glu)
c.531T>G (p.Asp177Glu)
gnomAD v4
16g.31184956C>ACA395669566FUSc.541C>A (p.Gln181Lys)
c.538C>A (p.Gln180Lys)
n.606C>A
c.529C>A (p.Gln177Lys)
n.646C>A
c.-40C>A (n.-40C>A)
c.535C>A (p.Gln179Lys)
c.532C>A (p.Gln178Lys)
16g.31184956C>GCA395669569FUSc.541C>G (p.Gln181Glu)
c.538C>G (p.Gln180Glu)
n.606C>G
c.529C>G (p.Gln177Glu)
n.646C>G
c.-40C>G (n.-40C>G)
c.535C>G (p.Gln179Glu)
c.532C>G (p.Gln178Glu)
16g.31184956C>TCA395669571FUSc.541C>T (p.Gln181Ter)
c.538C>T (p.Gln180Ter)
n.606C>T
c.529C>T (p.Gln177Ter)
n.646C>T
c.-40C>T (n.-40C>T)
c.535C>T (p.Gln179Ter)
c.532C>T (p.Gln178Ter)
16g.31184957A>CCA395669573FUSc.542A>C (p.Gln181Pro)
c.539A>C (p.Gln180Pro)
n.607A>C
c.530A>C (p.Gln177Pro)
n.647A>C
c.-39A>C (n.-39A>C)
c.536A>C (p.Gln179Pro)
c.533A>C (p.Gln178Pro)
16g.31184957A>GCA395669574FUSc.542A>G (p.Gln181Arg)
c.539A>G (p.Gln180Arg)
n.607A>G
c.530A>G (p.Gln177Arg)
n.647A>G
c.-39A>G (n.-39A>G)
c.536A>G (p.Gln179Arg)
c.533A>G (p.Gln178Arg)
16g.31184957A>TCA395669576FUSc.542A>T (p.Gln181Leu)
c.539A>T (p.Gln180Leu)
n.607A>T
c.530A>T (p.Gln177Leu)
n.647A>T
c.-39A>T (n.-39A>T)
c.536A>T (p.Gln179Leu)
c.533A>T (p.Gln178Leu)
16g.31184958A=CA2216944637FUSc.543A= (p.Gln181=)
c.540A= (p.Gln180=)
n.608A=
c.531A= (p.Gln177=)
n.648A=
c.-38A= (n.-38A=)
c.537A= (p.Gln179=)
c.534A= (p.Gln178=)
16g.31184958A>CCA395669577FUSc.543A>C (p.Gln181His)
c.540A>C (p.Gln180His)
n.608A>C
c.531A>C (p.Gln177His)
n.648A>C
c.-38A>C (n.-38A>C)
c.537A>C (p.Gln179His)
c.534A>C (p.Gln178His)
16g.31184958A>GCA280594639FUSc.543A>G (p.Gln181=)
c.540A>G (p.Gln180=)
n.608A>G
c.531A>G (p.Gln177=)
n.648A>G
c.-38A>G (n.-38A>G)
c.537A>G (p.Gln179=)
c.534A>G (p.Gln178=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31184958A>TCA395669579FUSc.543A>T (p.Gln181His)
c.540A>T (p.Gln180His)
n.608A>T
c.531A>T (p.Gln177His)
n.648A>T
c.-38A>T (n.-38A>T)
c.537A>T (p.Gln179His)
c.534A>T (p.Gln178His)
16g.31184959T>ACA395669581FUSc.544T>A (p.Ser182Thr)
c.541T>A (p.Ser181Thr)
n.609T>A
c.532T>A (p.Ser178Thr)
n.649T>A
c.-37T>A (n.-37T>A)
c.538T>A (p.Ser180Thr)
c.535T>A (p.Ser179Thr)
16g.31184959T>CCA395669583FUSc.544T>C (p.Ser182Pro)
c.541T>C (p.Ser181Pro)
n.609T>C
c.532T>C (p.Ser178Pro)
n.649T>C
c.-37T>C (n.-37T>C)
c.538T>C (p.Ser180Pro)
c.535T>C (p.Ser179Pro)
16g.31184959T>GCA395669584FUSc.544T>G (p.Ser182Ala)
c.541T>G (p.Ser181Ala)
n.609T>G
c.532T>G (p.Ser178Ala)
n.649T>G
c.-37T>G (n.-37T>G)
c.538T>G (p.Ser180Ala)
c.535T>G (p.Ser179Ala)
16g.31184960C>ACA395669585FUSc.545C>A (p.Ser182Tyr)
c.542C>A (p.Ser181Tyr)
n.610C>A
c.533C>A (p.Ser178Tyr)
n.650C>A
c.-36C>A (n.-36C>A)
c.539C>A (p.Ser180Tyr)
c.536C>A (p.Ser179Tyr)
16g.31184960C=CA2216944642FUSc.545C= (p.Ser182=)
c.542C= (p.Ser181=)
n.610C=
c.533C= (p.Ser178=)
n.650C=
c.-36C= (n.-36C=)
c.539C= (p.Ser180=)
c.536C= (p.Ser179=)
16g.31184960C>GCA395669587FUSc.545C>G (p.Ser182Cys)
c.542C>G (p.Ser181Cys)
n.610C>G
c.533C>G (p.Ser178Cys)
n.650C>G
c.-36C>G (n.-36C>G)
c.539C>G (p.Ser180Cys)
c.536C>G (p.Ser179Cys)
16g.31184960C>TCA280594644FUSc.545C>T (p.Ser182Phe)
c.542C>T (p.Ser181Phe)
n.610C>T
c.533C>T (p.Ser178Phe)
n.650C>T
c.-36C>T (n.-36C>T)
c.539C>T (p.Ser180Phe)
c.536C>T (p.Ser179Phe)
dbSNP gnomAD v3 gnomAD v4
16g.31184961C>ACA494928632FUSc.546C>A (p.Ser182=)
c.543C>A (p.Ser181=)
n.611C>A
c.534C>A (p.Ser178=)
n.651C>A
c.-35C>A (n.-35C>A)
c.540C>A (p.Ser180=)
c.537C>A (p.Ser179=)
dbSNP
16g.31184961C=CA2216944646FUSc.546C= (p.Ser182=)
c.543C= (p.Ser181=)
n.611C=
c.534C= (p.Ser178=)
n.651C=
c.-35C= (n.-35C=)
c.540C= (p.Ser180=)
c.537C= (p.Ser179=)
16g.31184961C>GCA494928633FUSc.546C>G (p.Ser182=)
c.543C>G (p.Ser181=)
n.611C>G
c.534C>G (p.Ser178=)
n.651C>G
c.-35C>G (n.-35C>G)
c.540C>G (p.Ser180=)
c.537C>G (p.Ser179=)
16g.31184961C>TCA8023706FUSc.546C>T (p.Ser182=)
c.543C>T (p.Ser181=)
n.611C>T
c.534C>T (p.Ser178=)
n.651C>T
c.-35C>T (n.-35C>T)
c.540C>T (p.Ser180=)
c.537C>T (p.Ser179=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31184962T>ACA395669593FUSc.547T>A (p.Ser183Thr)
c.544T>A (p.Ser182Thr)
n.612T>A
c.535T>A (p.Ser179Thr)
n.652T>A
c.-34T>A (n.-34T>A)
c.541T>A (p.Ser181Thr)
c.538T>A (p.Ser180Thr)
16g.31184962T>CCA395669590FUSc.547T>C (p.Ser183Pro)
c.544T>C (p.Ser182Pro)
n.612T>C
c.535T>C (p.Ser179Pro)
n.652T>C
c.-34T>C (n.-34T>C)
c.541T>C (p.Ser181Pro)
c.538T>C (p.Ser180Pro)
16g.31184962T>GCA395669591FUSc.547T>G (p.Ser183Ala)
c.544T>G (p.Ser182Ala)
n.612T>G
c.535T>G (p.Ser179Ala)
n.652T>G
c.-34T>G (n.-34T>G)
c.541T>G (p.Ser181Ala)
c.538T>G (p.Ser180Ala)
16g.31184963C>ACA395669595FUSc.548C>A (p.Ser183Tyr)
c.545C>A (p.Ser182Tyr)
n.613C>A
c.536C>A (p.Ser179Tyr)
n.653C>A
c.-33C>A (n.-33C>A)
c.542C>A (p.Ser181Tyr)
c.539C>A (p.Ser180Tyr)
16g.31184963C>GCA395669597FUSc.548C>G (p.Ser183Cys)
c.545C>G (p.Ser182Cys)
n.613C>G
c.536C>G (p.Ser179Cys)
n.653C>G
c.-33C>G (n.-33C>G)
c.542C>G (p.Ser181Cys)
c.539C>G (p.Ser180Cys)
16g.31184963C>TCA395669598FUSc.548C>T (p.Ser183Phe)
c.545C>T (p.Ser182Phe)
n.613C>T
c.536C>T (p.Ser179Phe)
n.653C>T
c.-33C>T (n.-33C>T)
c.542C>T (p.Ser181Phe)
c.539C>T (p.Ser180Phe)
16g.31184964C>ACA494928635FUSc.549C>A (p.Ser183=)
c.546C>A (p.Ser182=)
n.614C>A
c.537C>A (p.Ser179=)
n.654C>A
c.-32C>A (n.-32C>A)
c.543C>A (p.Ser181=)
c.540C>A (p.Ser180=)
16g.31184964C>GCA494928636FUSc.549C>G (p.Ser183=)
c.546C>G (p.Ser182=)
n.614C>G
c.537C>G (p.Ser179=)
n.654C>G
c.-32C>G (n.-32C>G)
c.543C>G (p.Ser181=)
c.540C>G (p.Ser180=)
16g.31184964C>TCA494928637FUSc.549C>T (p.Ser183=)
c.546C>T (p.Ser182=)
n.614C>T
c.537C>T (p.Ser179=)
n.654C>T
c.-32C>T (n.-32C>T)
c.543C>T (p.Ser181=)
c.540C>T (p.Ser180=)
gnomAD v4
16g.31184965A=CA2216944650FUSc.550A= (p.Met184=)
c.547A= (p.Met183=)
n.615A=
c.538A= (p.Met180=)
n.655A=
c.-31A= (n.-31A=)
c.544A= (p.Met182=)
c.541A= (p.Met181=)
16g.31184965A>CCA8023707FUSc.550A>C (p.Met184Leu)
c.547A>C (p.Met183Leu)
n.615A>C
c.538A>C (p.Met180Leu)
n.655A>C
c.-31A>C (n.-31A>C)
c.544A>C (p.Met182Leu)
c.541A>C (p.Met181Leu)
dbSNP ExAC
16g.31184965A>GCA395669600FUSc.550A>G (p.Met184Val)
c.547A>G (p.Met183Val)
n.615A>G
c.538A>G (p.Met180Val)
n.655A>G
c.-31A>G (n.-31A>G)
c.544A>G (p.Met182Val)
c.541A>G (p.Met181Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.31184965A>TCA395669599FUSc.550A>T (p.Met184Leu)
c.547A>T (p.Met183Leu)
n.615A>T
c.538A>T (p.Met180Leu)
n.655A>T
c.-31A>T (n.-31A>T)
c.544A>T (p.Met182Leu)
c.541A>T (p.Met181Leu)
16g.31184966T>ACA395669601FUSc.551T>A (p.Met184Lys)
c.548T>A (p.Met183Lys)
n.616T>A
c.539T>A (p.Met180Lys)
n.656T>A
c.-30T>A (n.-30T>A)
c.545T>A (p.Met182Lys)
c.542T>A (p.Met181Lys)
16g.31184966T>CCA395669603FUSc.551T>C (p.Met184Thr)
c.548T>C (p.Met183Thr)
n.616T>C
c.539T>C (p.Met180Thr)
n.656T>C
c.-30T>C (n.-30T>C)
c.545T>C (p.Met182Thr)
c.542T>C (p.Met181Thr)
16g.31184966T>GCA395669604FUSc.551T>G (p.Met184Arg)
c.548T>G (p.Met183Arg)
n.616T>G
c.539T>G (p.Met180Arg)
n.656T>G
c.-30T>G (n.-30T>G)
c.545T>G (p.Met182Arg)
c.542T>G (p.Met181Arg)
dbSNP
16g.31184966T=CA2216944655FUSc.551T= (p.Met184=)
c.548T= (p.Met183=)
n.616T=
c.539T= (p.Met180=)
n.656T=
c.-30T= (n.-30T=)
c.545T= (p.Met182=)
c.542T= (p.Met181=)
16g.31184967G>ACA395669605FUSc.552G>A (p.Met184Ile)
c.549G>A (p.Met183Ile)
n.617G>A
c.540G>A (p.Met180Ile)
n.657G>A
c.-29G>A (n.-29G>A)
c.546G>A (p.Met182Ile)
c.543G>A (p.Met181Ile)
gnomAD v4
16g.31184967G>CCA395669606FUSc.552G>C (p.Met184Ile)
c.549G>C (p.Met183Ile)
n.617G>C
c.540G>C (p.Met180Ile)
n.657G>C
c.-29G>C (n.-29G>C)
c.546G>C (p.Met182Ile)
c.543G>C (p.Met181Ile)
16g.31184967G>TCA395669607FUSc.552G>T (p.Met184Ile)
c.549G>T (p.Met183Ile)
n.617G>T
c.540G>T (p.Met180Ile)
n.657G>T
c.-29G>T (n.-29G>T)
c.546G>T (p.Met182Ile)
c.543G>T (p.Met181Ile)
16g.31184968A>CCA395669609FUSc.553A>C (p.Ser185Arg)
c.550A>C (p.Ser184Arg)
n.618A>C
c.541A>C (p.Ser181Arg)
n.658A>C
c.-28A>C (n.-28A>C)
c.547A>C (p.Ser183Arg)
c.544A>C (p.Ser182Arg)
16g.31184968A>GCA395669612FUSc.553A>G (p.Ser185Gly)
c.550A>G (p.Ser184Gly)
n.618A>G
c.541A>G (p.Ser181Gly)
n.658A>G
c.-28A>G (n.-28A>G)
c.547A>G (p.Ser183Gly)
c.544A>G (p.Ser182Gly)
16g.31184968A>TCA395669610FUSc.553A>T (p.Ser185Cys)
c.550A>T (p.Ser184Cys)
n.618A>T
c.541A>T (p.Ser181Cys)
n.658A>T
c.-28A>T (n.-28A>T)
c.547A>T (p.Ser183Cys)
c.544A>T (p.Ser182Cys)
16g.31184969G>ACA395669613FUSc.554G>A (p.Ser185Asn)
c.551G>A (p.Ser184Asn)
n.619G>A
c.542G>A (p.Ser181Asn)
n.659G>A
c.-27G>A (n.-27G>A)
c.548G>A (p.Ser183Asn)
c.545G>A (p.Ser182Asn)
16g.31184969G>CCA395669614FUSc.554G>C (p.Ser185Thr)
c.551G>C (p.Ser184Thr)
n.619G>C
c.542G>C (p.Ser181Thr)
n.659G>C
c.-27G>C (n.-27G>C)
c.548G>C (p.Ser183Thr)
c.545G>C (p.Ser182Thr)
16g.31184969G>TCA395669615FUSc.554G>T (p.Ser185Ile)
c.551G>T (p.Ser184Ile)
n.619G>T
c.542G>T (p.Ser181Ile)
n.659G>T
c.-27G>T (n.-27G>T)
c.548G>T (p.Ser183Ile)
c.545G>T (p.Ser182Ile)
16g.31184970T>ACA395669616FUSc.555T>A (p.Ser185Arg)
c.552T>A (p.Ser184Arg)
n.620T>A
c.543T>A (p.Ser181Arg)
n.660T>A
c.-26T>A (n.-26T>A)
c.549T>A (p.Ser183Arg)
c.546T>A (p.Ser182Arg)
16g.31184970T>CCA494928641FUSc.555T>C (p.Ser185=)
c.552T>C (p.Ser184=)
n.620T>C
c.543T>C (p.Ser181=)
n.660T>C
c.-26T>C (n.-26T>C)
c.549T>C (p.Ser183=)
c.546T>C (p.Ser182=)
16g.31184970T>GCA8023708FUSc.555T>G (p.Ser185Arg)
c.552T>G (p.Ser184Arg)
n.620T>G
c.543T>G (p.Ser181Arg)
n.660T>G
c.-26T>G (n.-26T>G)
c.549T>G (p.Ser183Arg)
c.546T>G (p.Ser182Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31184970T=CA2216944657FUSc.555T= (p.Ser185=)
c.552T= (p.Ser184=)
n.620T=
c.543T= (p.Ser181=)
n.660T=
c.-26T= (n.-26T=)
c.549T= (p.Ser183=)
c.546T= (p.Ser182=)
16g.31184971A>CCA395669617FUSc.556A>C (p.Ser186Arg)
c.553A>C (p.Ser185Arg)
n.621A>C
c.544A>C (p.Ser182Arg)
n.661A>C
c.-25A>C (n.-25A>C)
c.550A>C (p.Ser184Arg)
c.547A>C (p.Ser183Arg)
16g.31184971A>GCA395669618FUSc.556A>G (p.Ser186Gly)
c.553A>G (p.Ser185Gly)
n.621A>G
c.544A>G (p.Ser182Gly)
n.661A>G
c.-25A>G (n.-25A>G)
c.550A>G (p.Ser184Gly)
c.547A>G (p.Ser183Gly)
16g.31184971A>TCA395669619FUSc.556A>T (p.Ser186Cys)
c.553A>T (p.Ser185Cys)
n.621A>T
c.544A>T (p.Ser182Cys)
n.661A>T
c.-25A>T (n.-25A>T)
c.550A>T (p.Ser184Cys)
c.547A>T (p.Ser183Cys)
16g.31184972G>ACA395669620FUSc.557G>A (p.Ser186Asn)
c.554G>A (p.Ser185Asn)
n.622G>A
c.545G>A (p.Ser182Asn)
n.662G>A
c.-24G>A (n.-24G>A)
c.551G>A (p.Ser184Asn)
c.548G>A (p.Ser183Asn)
gnomAD v4
16g.31184972G>CCA395669622FUSc.557G>C (p.Ser186Thr)
c.554G>C (p.Ser185Thr)
n.622G>C
c.545G>C (p.Ser182Thr)
n.662G>C
c.-24G>C (n.-24G>C)
c.551G>C (p.Ser184Thr)
c.548G>C (p.Ser183Thr)
16g.31184972G=CA2216944660FUSc.557G= (p.Ser186=)
c.554G= (p.Ser185=)
n.622G=
c.545G= (p.Ser182=)
n.662G=
c.-24G= (n.-24G=)
c.551G= (p.Ser184=)
c.548G= (p.Ser183=)
16g.31184972G>TCA8023709FUSc.557G>T (p.Ser186Ile)
c.554G>T (p.Ser185Ile)
n.622G>T
c.545G>T (p.Ser182Ile)
n.662G>T
c.-24G>T (n.-24G>T)
c.551G>T (p.Ser184Ile)
c.548G>T (p.Ser183Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31184973T>ACA395669626FUSc.558T>A (p.Ser186Arg)
c.555T>A (p.Ser185Arg)
n.623T>A
c.546T>A (p.Ser182Arg)
n.663T>A
c.-23T>A (n.-23T>A)
c.552T>A (p.Ser184Arg)
c.549T>A (p.Ser183Arg)
16g.31184973T>CCA494928645FUSc.558T>C (p.Ser186=)
c.555T>C (p.Ser185=)
n.623T>C
c.546T>C (p.Ser182=)
n.663T>C
c.-23T>C (n.-23T>C)
c.552T>C (p.Ser184=)
c.549T>C (p.Ser183=)
16g.31184973T>GCA395669624FUSc.558T>G (p.Ser186Arg)
c.555T>G (p.Ser185Arg)
n.623T>G
c.546T>G (p.Ser182Arg)
n.663T>G
c.-23T>G (n.-23T>G)
c.552T>G (p.Ser184Arg)
c.549T>G (p.Ser183Arg)
16g.31184974G>ACA8023710FUSc.559G>A (p.Gly187Ser)
c.556G>A (p.Gly186Ser)
n.624G>A
c.547G>A (p.Gly183Ser)
n.664G>A
c.-22G>A (n.-22G>A)
c.553G>A (p.Gly185Ser)
c.550G>A (p.Gly184Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.31184974G>CCA395669628FUSc.559G>C (p.Gly187Arg)
c.556G>C (p.Gly186Arg)
n.624G>C
c.547G>C (p.Gly183Arg)
n.664G>C
c.-22G>C (n.-22G>C)
c.553G>C (p.Gly185Arg)
c.550G>C (p.Gly184Arg)
16g.31184974G=CA2216944664FUSc.559G= (p.Gly187=)
c.556G= (p.Gly186=)
n.624G=
c.547G= (p.Gly183=)
n.664G=
c.-22G= (n.-22G=)
c.553G= (p.Gly185=)
c.550G= (p.Gly184=)
16g.31184974G>TCA395669630FUSc.559G>T (p.Gly187Cys)
c.556G>T (p.Gly186Cys)
n.624G>T
c.547G>T (p.Gly183Cys)
n.664G>T
c.-22G>T (n.-22G>T)
c.553G>T (p.Gly185Cys)
c.550G>T (p.Gly184Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31184974_31184983delinsGGTGGTGGCACA2216944666FUSc.559_568delinsGGTGGTGGCA (p.Gly187=)
c.556_565delinsGGTGGTGGCA (p.Gly186=)
n.624_633delinsGGTGGTGGCA
c.547_556delinsGGTGGTGGCA (p.Gly183=)
n.664_673delinsGGTGGTGGCA
c.-22_-13delinsGGTGGTGGCA (n.-22_-13delinsGGTGGTGGCA)
c.553_562delinsGGTGGTGGCA (p.Gly185=)
c.550_559delinsGGTGGTGGCA (p.Gly184=)
16g.31184975G>ACA395669633FUSc.560G>A (p.Gly187Asp)
c.557G>A (p.Gly186Asp)
n.625G>A
c.548G>A (p.Gly183Asp)
n.665G>A
c.-21G>A (n.-21G>A)
c.554G>A (p.Gly185Asp)
c.551G>A (p.Gly184Asp)
16g.31184975G>CCA395669634FUSc.560G>C (p.Gly187Ala)
c.557G>C (p.Gly186Ala)
n.625G>C
c.548G>C (p.Gly183Ala)
n.665G>C
c.-21G>C (n.-21G>C)
c.554G>C (p.Gly185Ala)
c.551G>C (p.Gly184Ala)
16g.31184975G>TCA395669635FUSc.560G>T (p.Gly187Val)
c.557G>T (p.Gly186Val)
n.625G>T
c.548G>T (p.Gly183Val)
n.665G>T
c.-21G>T (n.-21G>T)
c.554G>T (p.Gly185Val)
c.551G>T (p.Gly184Val)
16g.31184983_31184991delCA8023711FUSc.568_576del (p.Ser190_Gly192del)
c.565_573del (p.Ser189_Gly191del)
n.633_641del
c.556_564del (p.Ser186_Gly188del)
n.673_681del
c.-13_-5del (n.-13_-5del)
c.562_570del (p.Ser188_Gly190del)
c.559_567del (p.Ser187_Gly189del)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31184976T>ACA494928651FUSc.561T>A (p.Gly187=)
c.558T>A (p.Gly186=)
n.626T>A
c.549T>A (p.Gly183=)
n.666T>A
c.-20T>A (n.-20T>A)
c.555T>A (p.Gly185=)
c.552T>A (p.Gly184=)
16g.31184976T>CCA494928650FUSc.561T>C (p.Gly187=)
c.558T>C (p.Gly186=)
n.626T>C
c.549T>C (p.Gly183=)
n.666T>C
c.-20T>C (n.-20T>C)
c.555T>C (p.Gly185=)
c.552T>C (p.Gly184=)
16g.31184976T>GCA494928649FUSc.561T>G (p.Gly187=)
c.558T>G (p.Gly186=)
n.626T>G
c.549T>G (p.Gly183=)
n.666T>G
c.-20T>G (n.-20T>G)
c.555T>G (p.Gly185=)
c.552T>G (p.Gly184=)
16g.31184977G>ACA395669638FUSc.562G>A (p.Gly188Ser)
c.559G>A (p.Gly187Ser)
n.627G>A
c.550G>A (p.Gly184Ser)
n.667G>A
c.-19G>A (n.-19G>A)
c.556G>A (p.Gly186Ser)
c.553G>A (p.Gly185Ser)
gnomAD v4
16g.31184977G>CCA395669640FUSc.562G>C (p.Gly188Arg)
c.559G>C (p.Gly187Arg)
n.627G>C
c.550G>C (p.Gly184Arg)
n.667G>C
c.-19G>C (n.-19G>C)
c.556G>C (p.Gly186Arg)
c.553G>C (p.Gly185Arg)
16g.31184977G>TCA395669641FUSc.562G>T (p.Gly188Cys)
c.559G>T (p.Gly187Cys)
n.627G>T
c.550G>T (p.Gly184Cys)
n.667G>T
c.-19G>T (n.-19G>T)
c.556G>T (p.Gly186Cys)
c.553G>T (p.Gly185Cys)
16g.31184978G>ACA395669642FUSc.563G>A (p.Gly188Asp)
c.560G>A (p.Gly187Asp)
n.628G>A
c.551G>A (p.Gly184Asp)
n.668G>A
c.-18G>A (n.-18G>A)
c.557G>A (p.Gly186Asp)
c.554G>A (p.Gly185Asp)
16g.31184978G>CCA395669643FUSc.563G>C (p.Gly188Ala)
c.560G>C (p.Gly187Ala)
n.628G>C
c.551G>C (p.Gly184Ala)
n.668G>C
c.-18G>C (n.-18G>C)
c.557G>C (p.Gly186Ala)
c.554G>C (p.Gly185Ala)
16g.31184978G>TCA395669645FUSc.563G>T (p.Gly188Val)
c.560G>T (p.Gly187Val)
n.628G>T
c.551G>T (p.Gly184Val)
n.668G>T
c.-18G>T (n.-18G>T)
c.557G>T (p.Gly186Val)
c.554G>T (p.Gly185Val)
16g.31184979T>ACA494928655FUSc.564T>A (p.Gly188=)
c.561T>A (p.Gly187=)
n.629T>A
c.552T>A (p.Gly184=)
n.669T>A
c.-17T>A (n.-17T>A)
c.558T>A (p.Gly186=)
c.555T>A (p.Gly185=)
16g.31184979T>CCA494928653FUSc.564T>C (p.Gly188=)
c.561T>C (p.Gly187=)
n.629T>C
c.552T>C (p.Gly184=)
n.669T>C
c.-17T>C (n.-17T>C)
c.558T>C (p.Gly186=)
c.555T>C (p.Gly185=)
gnomAD v4
16g.31184979T>GCA494928654FUSc.564T>G (p.Gly188=)
c.561T>G (p.Gly187=)
n.629T>G
c.552T>G (p.Gly184=)
n.669T>G
c.-17T>G (n.-17T>G)
c.558T>G (p.Gly186=)
c.555T>G (p.Gly185=)
16g.31184980G>ACA395669650FUSc.565G>A (p.Gly189Ser)
c.562G>A (p.Gly188Ser)
n.630G>A
c.553G>A (p.Gly185Ser)
n.670G>A
c.-16G>A (n.-16G>A)
c.559G>A (p.Gly187Ser)
c.556G>A (p.Gly186Ser)
16g.31184980G>CCA395669649FUSc.565G>C (p.Gly189Arg)
c.562G>C (p.Gly188Arg)
n.630G>C
c.553G>C (p.Gly185Arg)
n.670G>C
c.-16G>C (n.-16G>C)
c.559G>C (p.Gly187Arg)
c.556G>C (p.Gly186Arg)
16g.31184980G>TCA395669647FUSc.565G>T (p.Gly189Cys)
c.562G>T (p.Gly188Cys)
n.630G>T
c.553G>T (p.Gly185Cys)
n.670G>T
c.-16G>T (n.-16G>T)
c.559G>T (p.Gly187Cys)
c.556G>T (p.Gly186Cys)
16g.31184981G>ACA395669652FUSc.566G>A (p.Gly189Asp)
c.563G>A (p.Gly188Asp)
n.631G>A
c.554G>A (p.Gly185Asp)
n.671G>A
c.-15G>A (n.-15G>A)
c.560G>A (p.Gly187Asp)
c.557G>A (p.Gly186Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.31184981G>CCA395669654FUSc.566G>C (p.Gly189Ala)
c.563G>C (p.Gly188Ala)
n.631G>C
c.554G>C (p.Gly185Ala)
n.671G>C
c.-15G>C (n.-15G>C)
c.560G>C (p.Gly187Ala)
c.557G>C (p.Gly186Ala)
16g.31184981G=CA2216944669FUSc.566G= (p.Gly189=)
c.563G= (p.Gly188=)
n.631G=
c.554G= (p.Gly185=)
n.671G=
c.-15G= (n.-15G=)
c.560G= (p.Gly187=)
c.557G= (p.Gly186=)
16g.31184981G>TCA395669655FUSc.566G>T (p.Gly189Val)
c.563G>T (p.Gly188Val)
n.631G>T
c.554G>T (p.Gly185Val)
n.671G>T
c.-15G>T (n.-15G>T)
c.560G>T (p.Gly187Val)
c.557G>T (p.Gly186Val)
16g.31184982C>ACA494928658FUSc.567C>A (p.Gly189=)
c.564C>A (p.Gly188=)
n.632C>A
c.555C>A (p.Gly185=)
n.672C>A
c.-14C>A (n.-14C>A)
c.561C>A (p.Gly187=)
c.558C>A (p.Gly186=)
16g.31184982C=CA2216944671FUSc.567C= (p.Gly189=)
c.564C= (p.Gly188=)
n.632C=
c.555C= (p.Gly185=)
n.672C=
c.-14C= (n.-14C=)
c.561C= (p.Gly187=)
c.558C= (p.Gly186=)
16g.31184982C>GCA494928657FUSc.567C>G (p.Gly189=)
c.564C>G (p.Gly188=)
n.632C>G
c.555C>G (p.Gly185=)
n.672C>G
c.-14C>G (n.-14C>G)
c.561C>G (p.Gly187=)
c.558C>G (p.Gly186=)
16g.31184982C>TCA494928656FUSc.567C>T (p.Gly189=)
c.564C>T (p.Gly188=)
n.632C>T
c.555C>T (p.Gly185=)
n.672C>T
c.-14C>T (n.-14C>T)
c.561C>T (p.Gly187=)
c.558C>T (p.Gly186=)
dbSNP
16g.31184982_31184988delinsCAGTGGTCA2216944673FUSc.567_573delinsCAGTGGT (p.Gly189=)
c.564_570delinsCAGTGGT (p.Gly188=)
n.632_638delinsCAGTGGT
c.555_561delinsCAGTGGT (p.Gly185=)
n.672_678delinsCAGTGGT
c.-14_-8delinsCAGTGGT (n.-14_-8delinsCAGTGGT)
c.561_567delinsCAGTGGT (p.Gly187=)
c.558_564delinsCAGTGGT (p.Gly186=)
16g.31184983A=CA2216944676FUSc.568A= (p.Ser190=)
c.565A= (p.Ser189=)
n.633A=
c.556A= (p.Ser186=)
n.673A=
c.-13A= (n.-13A=)
c.562A= (p.Ser188=)
c.559A= (p.Ser187=)
16g.31184983A>CCA395669657FUSc.568A>C (p.Ser190Arg)
c.565A>C (p.Ser189Arg)
n.633A>C
c.556A>C (p.Ser186Arg)
n.673A>C
c.-13A>C (n.-13A>C)
c.562A>C (p.Ser188Arg)
c.559A>C (p.Ser187Arg)
16g.31184983A>GCA8023712FUSc.568A>G (p.Ser190Gly)
c.565A>G (p.Ser189Gly)
n.633A>G
c.556A>G (p.Ser186Gly)
n.673A>G
c.-13A>G (n.-13A>G)
c.562A>G (p.Ser188Gly)
c.559A>G (p.Ser187Gly)
dbSNP ExAC gnomAD v2
16g.31184983A>TCA395669658FUSc.568A>T (p.Ser190Cys)
c.565A>T (p.Ser189Cys)
n.633A>T
c.556A>T (p.Ser186Cys)
n.673A>T
c.-13A>T (n.-13A>T)
c.562A>T (p.Ser188Cys)
c.559A>T (p.Ser187Cys)
16g.31184983_31184988delCA2216944675FUSc.568_573del (p.Ser190_Gly191del)
c.565_570del (p.Ser189_Gly190del)
n.633_638del
c.556_561del (p.Ser186_Gly187del)
n.673_678del
c.-13_-8del (n.-13_-8del)
c.562_567del (p.Ser188_Gly189del)
c.559_564del (p.Ser187_Gly188del)
dbSNP
16g.31184984G>ACA395669659FUSc.569G>A (p.Ser190Asn)
c.566G>A (p.Ser189Asn)
n.634G>A
c.557G>A (p.Ser186Asn)
n.674G>A
c.-12G>A (n.-12G>A)
c.563G>A (p.Ser188Asn)
c.560G>A (p.Ser187Asn)
16g.31184984G>CCA395669661FUSc.569G>C (p.Ser190Thr)
c.566G>C (p.Ser189Thr)
n.634G>C
c.557G>C (p.Ser186Thr)
n.674G>C
c.-12G>C (n.-12G>C)
c.563G>C (p.Ser188Thr)
c.560G>C (p.Ser187Thr)
16g.31184984G>TCA395669662FUSc.569G>T (p.Ser190Ile)
c.566G>T (p.Ser189Ile)
n.634G>T
c.557G>T (p.Ser186Ile)
n.674G>T
c.-12G>T (n.-12G>T)
c.563G>T (p.Ser188Ile)
c.560G>T (p.Ser187Ile)
16g.31184985T>ACA395669664FUSc.570T>A (p.Ser190Arg)
c.567T>A (p.Ser189Arg)
n.635T>A
c.558T>A (p.Ser186Arg)
n.675T>A
c.-11T>A (n.-11T>A)
c.564T>A (p.Ser188Arg)
c.561T>A (p.Ser187Arg)
16g.31184985T>CCA494928660FUSc.570T>C (p.Ser190=)
c.567T>C (p.Ser189=)
n.635T>C
c.558T>C (p.Ser186=)
n.675T>C
c.-11T>C (n.-11T>C)
c.564T>C (p.Ser188=)
c.561T>C (p.Ser187=)
16g.31184985T>GCA395669665FUSc.570T>G (p.Ser190Arg)
c.567T>G (p.Ser189Arg)
n.635T>G
c.558T>G (p.Ser186Arg)
n.675T>G
c.-11T>G (n.-11T>G)
c.564T>G (p.Ser188Arg)
c.561T>G (p.Ser187Arg)
16g.31184985T=CA2216944680FUSc.570T= (p.Ser190=)
c.567T= (p.Ser189=)
n.635T=
c.558T= (p.Ser186=)
n.675T=
c.-11T= (n.-11T=)
c.564T= (p.Ser188=)
c.561T= (p.Ser187=)
16g.31184986G>ACA280594678FUSc.571G>A (p.Gly191Ser)
c.568G>A (p.Gly190Ser)
n.636G>A
c.559G>A (p.Gly187Ser)
n.676G>A
c.-10G>A (n.-10G>A)
c.565G>A (p.Gly189Ser)
c.562G>A (p.Gly188Ser)
ClinVar dbSNP gnomAD v4
16g.31184986G>CCA395669667FUSc.571G>C (p.Gly191Arg)
c.568G>C (p.Gly190Arg)
n.636G>C
c.559G>C (p.Gly187Arg)
n.676G>C
c.-10G>C (n.-10G>C)
c.565G>C (p.Gly189Arg)
c.562G>C (p.Gly188Arg)
16g.31184986G=CA2216944686FUSc.571G= (p.Gly191=)
c.568G= (p.Gly190=)
n.636G=
c.559G= (p.Gly187=)
n.676G=
c.-10G= (n.-10G=)
c.565G= (p.Gly189=)
c.562G= (p.Gly188=)
16g.31184986G>TCA395669669FUSc.571G>T (p.Gly191Cys)
c.568G>T (p.Gly190Cys)
n.636G>T
c.559G>T (p.Gly187Cys)
n.676G>T
c.-10G>T (n.-10G>T)
c.565G>T (p.Gly189Cys)
c.562G>T (p.Gly188Cys)
16g.31184987dupCA919689811FUSc.572dup (p.Gly192TrpfsTer?)
c.569dup (p.Gly191TrpfsTer?)
n.637dup
c.560dup (p.Gly188TrpfsTer?)
n.677dup
c.-9dup (n.-9dup)
c.566dup (p.Gly190TrpfsTer?)
c.563dup (p.Gly189TrpfsTer?)
dbSNP
16g.31184987G>ACA395669674FUSc.572G>A (p.Gly191Asp)
c.569G>A (p.Gly190Asp)
n.637G>A
c.560G>A (p.Gly187Asp)
n.677G>A
c.-9G>A (n.-9G>A)
c.566G>A (p.Gly189Asp)
c.563G>A (p.Gly188Asp)
16g.31184987G>CCA395669672FUSc.572G>C (p.Gly191Ala)
c.569G>C (p.Gly190Ala)
n.637G>C
c.560G>C (p.Gly187Ala)
n.677G>C
c.-9G>C (n.-9G>C)
c.566G>C (p.Gly189Ala)
c.563G>C (p.Gly188Ala)
16g.31184987G>TCA395669671FUSc.572G>T (p.Gly191Val)
c.569G>T (p.Gly190Val)
n.637G>T
c.560G>T (p.Gly187Val)
n.677G>T
c.-9G>T (n.-9G>T)
c.566G>T (p.Gly189Val)
c.563G>T (p.Gly188Val)
16g.31184988T>ACA494928664FUSc.573T>A (p.Gly191=)
c.570T>A (p.Gly190=)
n.638T>A
c.561T>A (p.Gly187=)
n.678T>A
c.-8T>A (n.-8T>A)
c.567T>A (p.Gly189=)
c.564T>A (p.Gly188=)
16g.31184988T>CCA494928665FUSc.573T>C (p.Gly191=)
c.570T>C (p.Gly190=)
n.638T>C
c.561T>C (p.Gly187=)
n.678T>C
c.-8T>C (n.-8T>C)
c.567T>C (p.Gly189=)
c.564T>C (p.Gly188=)
16g.31184988T>GCA494928666FUSc.573T>G (p.Gly191=)
c.570T>G (p.Gly190=)
n.638T>G
c.561T>G (p.Gly187=)
n.678T>G
c.-8T>G (n.-8T>G)
c.567T>G (p.Gly189=)
c.564T>G (p.Gly188=)
dbSNP
16g.31184988T=CA2216944691FUSc.573T= (p.Gly191=)
c.570T= (p.Gly190=)
n.638T=
c.561T= (p.Gly187=)
n.678T=
c.-8T= (n.-8T=)
c.567T= (p.Gly189=)
c.564T= (p.Gly188=)
16g.31184989G>ACA395669676FUSc.574G>A (p.Gly192Ser)
c.571G>A (p.Gly191Ser)
n.639G>A
c.562G>A (p.Gly188Ser)
n.679G>A
c.-7G>A (n.-7G>A)
c.568G>A (p.Gly190Ser)
c.565G>A (p.Gly189Ser)
16g.31184989G>CCA395669679FUSc.574G>C (p.Gly192Arg)
c.571G>C (p.Gly191Arg)
n.639G>C
c.562G>C (p.Gly188Arg)
n.679G>C
c.-7G>C (n.-7G>C)
c.568G>C (p.Gly190Arg)
c.565G>C (p.Gly189Arg)
16g.31184989G>TCA395669678FUSc.574G>T (p.Gly192Cys)
c.571G>T (p.Gly191Cys)
n.639G>T
c.562G>T (p.Gly188Cys)
n.679G>T
c.-7G>T (n.-7G>T)
c.568G>T (p.Gly190Cys)
c.565G>T (p.Gly189Cys)
16g.31184990G>ACA395669681FUSc.575G>A (p.Gly192Asp)
c.572G>A (p.Gly191Asp)
n.640G>A
c.563G>A (p.Gly188Asp)
n.680G>A
c.-6G>A (n.-6G>A)
c.569G>A (p.Gly190Asp)
c.566G>A (p.Gly189Asp)
gnomAD v4
16g.31184990G>CCA395669683FUSc.575G>C (p.Gly192Ala)
c.572G>C (p.Gly191Ala)
n.640G>C
c.563G>C (p.Gly188Ala)
n.680G>C
c.-6G>C (n.-6G>C)
c.569G>C (p.Gly190Ala)
c.566G>C (p.Gly189Ala)
16g.31184990G>TCA395669685FUSc.575G>T (p.Gly192Val)
c.572G>T (p.Gly191Val)
n.640G>T
c.563G>T (p.Gly188Val)
n.680G>T
c.-6G>T (n.-6G>T)
c.569G>T (p.Gly190Val)
c.566G>T (p.Gly189Val)
COSMIC COSMIC
16g.31184991C>ACA494928671FUSc.576C>A (p.Gly192=)
c.573C>A (p.Gly191=)
n.641C>A
c.564C>A (p.Gly188=)
n.681C>A
c.-5C>A (n.-5C>A)
c.570C>A (p.Gly190=)
c.567C>A (p.Gly189=)
16g.31184991C=CA2216944694FUSc.576C= (p.Gly192=)
c.573C= (p.Gly191=)
n.641C=
c.564C= (p.Gly188=)
n.681C=
c.-5C= (n.-5C=)
c.570C= (p.Gly190=)
c.567C= (p.Gly189=)
16g.31184991C>GCA494928672FUSc.576C>G (p.Gly192=)
c.573C>G (p.Gly191=)
n.641C>G
c.564C>G (p.Gly188=)
n.681C>G
c.-5C>G (n.-5C>G)
c.570C>G (p.Gly190=)
c.567C>G (p.Gly189=)
dbSNP
16g.31184991C>TCA8023713FUSc.576C>T (p.Gly192=)
c.573C>T (p.Gly191=)
n.641C>T
c.564C>T (p.Gly188=)
n.681C>T
c.-5C>T (n.-5C>T)
c.570C>T (p.Gly190=)
c.567C>T (p.Gly189=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31184992G>ACA395669688FUSc.577G>A (p.Gly193Ser)
c.574G>A (p.Gly192Ser)
n.642G>A
c.565G>A (p.Gly189Ser)
n.682G>A
c.-4G>A (n.-4G>A)
c.571G>A (p.Gly191Ser)
c.568G>A (p.Gly190Ser)
dbSNP gnomAD v4
16g.31184992G>CCA395669690FUSc.577G>C (p.Gly193Arg)
c.574G>C (p.Gly192Arg)
n.642G>C
c.565G>C (p.Gly189Arg)
n.682G>C
c.-4G>C (n.-4G>C)
c.571G>C (p.Gly191Arg)
c.568G>C (p.Gly190Arg)
16g.31184992G=CA2216944698FUSc.577G= (p.Gly193=)
c.574G= (p.Gly192=)
n.642G=
c.565G= (p.Gly189=)
n.682G=
c.-4G= (n.-4G=)
c.571G= (p.Gly191=)
c.568G= (p.Gly190=)
16g.31184992G>TCA395669691FUSc.577G>T (p.Gly193Cys)
c.574G>T (p.Gly192Cys)
n.642G>T
c.565G>T (p.Gly189Cys)
n.682G>T
c.-4G>T (n.-4G>T)
c.571G>T (p.Gly191Cys)
c.568G>T (p.Gly190Cys)
dbSNP gnomAD v2 gnomAD v4
16g.31184993G>ACA395669692FUSc.578G>A (p.Gly193Asp)
c.575G>A (p.Gly192Asp)
n.643G>A
c.566G>A (p.Gly189Asp)
n.683G>A
c.-3G>A (n.-3G>A)
c.572G>A (p.Gly191Asp)
c.569G>A (p.Gly190Asp)
16g.31184993G>CCA395669693FUSc.578G>C (p.Gly193Ala)
c.575G>C (p.Gly192Ala)
n.643G>C
c.566G>C (p.Gly189Ala)
n.683G>C
c.-3G>C (n.-3G>C)
c.572G>C (p.Gly191Ala)
c.569G>C (p.Gly190Ala)
16g.31184993G>TCA395669694FUSc.578G>T (p.Gly193Val)
c.575G>T (p.Gly192Val)
n.643G>T
c.566G>T (p.Gly189Val)
n.683G>T
c.-3G>T (n.-3G>T)
c.572G>T (p.Gly191Val)
c.569G>T (p.Gly190Val)
16g.31184993_31185036delCA2695223295FUSc.578_621del (p.Gly193ValfsTer?)
c.575_618del (p.Gly192ValfsTer?)
n.643_686del
c.566_609del (p.Gly189ValfsTer?)
n.683_726del
c.-3_41del
c.572_615del (p.Gly191ValfsTer?)
c.569_612del (p.Gly190ValfsTer?)
16g.31184994T>ACA494928679FUSc.579T>A (p.Gly193=)
c.576T>A (p.Gly192=)
n.644T>A
c.567T>A (p.Gly189=)
n.684T>A
c.-2T>A (n.-2T>A)
c.573T>A (p.Gly191=)
c.570T>A (p.Gly190=)
16g.31184994T>CCA494928680FUSc.579T>C (p.Gly193=)
c.576T>C (p.Gly192=)
n.644T>C
c.567T>C (p.Gly189=)
n.684T>C
c.-2T>C (n.-2T>C)
c.573T>C (p.Gly191=)
c.570T>C (p.Gly190=)
16g.31184994T>GCA494928681FUSc.579T>G (p.Gly193=)
c.576T>G (p.Gly192=)
n.644T>G
c.567T>G (p.Gly189=)
n.684T>G
c.-2T>G (n.-2T>G)
c.573T>G (p.Gly191=)
c.570T>G (p.Gly190=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.31184994T=CA2216944700FUSc.579T= (p.Gly193=)
c.576T= (p.Gly192=)
n.644T=
c.567T= (p.Gly189=)
n.684T=
c.-2T= (n.-2T=)
c.573T= (p.Gly191=)
c.570T= (p.Gly190=)
16g.31184995T>ACA395669699FUSc.580T>A (p.Tyr194Asn)
c.577T>A (p.Tyr193Asn)
n.645T>A
c.568T>A (p.Tyr190Asn)
n.685T>A
c.-1T>A (n.-1T>A)
c.574T>A (p.Tyr192Asn)
c.571T>A (p.Tyr191Asn)
16g.31184995T>CCA395669697FUSc.580T>C (p.Tyr194His)
c.577T>C (p.Tyr193His)
n.645T>C
c.568T>C (p.Tyr190His)
n.685T>C
c.-1T>C (n.-1T>C)
c.574T>C (p.Tyr192His)
c.571T>C (p.Tyr191His)
16g.31184995T>GCA395669695FUSc.580T>G (p.Tyr194Asp)
c.577T>G (p.Tyr193Asp)
n.645T>G
c.568T>G (p.Tyr190Asp)
n.685T>G
c.-1T>G (n.-1T>G)
c.574T>G (p.Tyr192Asp)
c.571T>G (p.Tyr191Asp)
16g.31184996A>CCA395669700FUSc.581A>C (p.Tyr194Ser)
c.578A>C (p.Tyr193Ser)
n.646A>C
c.569A>C (p.Tyr190Ser)
n.686A>C
c.1A>C (p.Met1Leu)
c.575A>C (p.Tyr192Ser)
c.572A>C (p.Tyr191Ser)
16g.31184996A>GCA395669701FUSc.581A>G (p.Tyr194Cys)
c.578A>G (p.Tyr193Cys)
n.646A>G
c.569A>G (p.Tyr190Cys)
n.686A>G
c.1A>G (p.Met1Val)
c.575A>G (p.Tyr192Cys)
c.572A>G (p.Tyr191Cys)
16g.31184996A>TCA395669703FUSc.581A>T (p.Tyr194Phe)
c.578A>T (p.Tyr193Phe)
n.646A>T
c.569A>T (p.Tyr190Phe)
n.686A>T
c.1A>T (p.Met1Leu)
c.575A>T (p.Tyr192Phe)
c.572A>T (p.Tyr191Phe)
16g.31184997T>ACA395669705FUSc.582T>A (p.Tyr194Ter)
c.579T>A (p.Tyr193Ter)
n.647T>A
c.570T>A (p.Tyr190Ter)
n.687T>A
c.2T>A (p.Met1Lys)
c.576T>A (p.Tyr192Ter)
c.573T>A (p.Tyr191Ter)
16g.31184997T>CCA8023714FUSc.582T>C (p.Tyr194=)
c.579T>C (p.Tyr193=)
n.647T>C
c.570T>C (p.Tyr190=)
n.687T>C
c.2T>C (p.Met1Thr)
c.576T>C (p.Tyr192=)
c.573T>C (p.Tyr191=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31184997T>GCA395669707FUSc.582T>G (p.Tyr194Ter)
c.579T>G (p.Tyr193Ter)
n.647T>G
c.570T>G (p.Tyr190Ter)
n.687T>G
c.2T>G (p.Met1Arg)
c.576T>G (p.Tyr192Ter)
c.573T>G (p.Tyr191Ter)
16g.31184997T=CA2216944707FUSc.582T= (p.Tyr194=)
c.579T= (p.Tyr193=)
n.647T=
c.570T= (p.Tyr190=)
n.687T=
c.2T= (p.Met1=)
c.576T= (p.Tyr192=)
c.573T= (p.Tyr191=)
16g.31184998G>ACA395669709FUSc.583G>A (p.Gly195Ser)
c.580G>A (p.Gly194Ser)
n.648G>A
c.571G>A (p.Gly191Ser)
n.688G>A
c.3G>A (p.Met1Ile)
c.577G>A (p.Gly193Ser)
c.574G>A (p.Gly192Ser)
dbSNP
16g.31184998G>CCA395669711FUSc.583G>C (p.Gly195Arg)
c.580G>C (p.Gly194Arg)
n.648G>C
c.571G>C (p.Gly191Arg)
n.688G>C
c.3G>C (p.Met1Ile)
c.577G>C (p.Gly193Arg)
c.574G>C (p.Gly192Arg)
16g.31184998G=CA2216944709FUSc.583G= (p.Gly195=)
c.580G= (p.Gly194=)
n.648G=
c.571G= (p.Gly191=)
n.688G=
c.3G= (p.Met1=)
c.577G= (p.Gly193=)
c.574G= (p.Gly192=)
16g.31184998G>TCA395669713FUSc.583G>T (p.Gly195Cys)
c.580G>T (p.Gly194Cys)
n.648G>T
c.571G>T (p.Gly191Cys)
n.688G>T
c.3G>T (p.Met1Ile)
c.577G>T (p.Gly193Cys)
c.574G>T (p.Gly192Cys)
16g.31184999G>ACA395669714FUSc.584G>A (p.Gly195Asp)
c.581G>A (p.Gly194Asp)
n.649G>A
c.572G>A (p.Gly191Asp)
n.689G>A
c.4G>A (p.Ala2Thr)
c.578G>A (p.Gly193Asp)
c.575G>A (p.Gly192Asp)
16g.31184999G>CCA395669715FUSc.584G>C (p.Gly195Ala)
c.581G>C (p.Gly194Ala)
n.649G>C
c.572G>C (p.Gly191Ala)
n.689G>C
c.4G>C (p.Ala2Pro)
c.578G>C (p.Gly193Ala)
c.575G>C (p.Gly192Ala)
16g.31184999G>TCA395669717FUSc.584G>T (p.Gly195Val)
c.581G>T (p.Gly194Val)
n.649G>T
c.572G>T (p.Gly191Val)
n.689G>T
c.4G>T (p.Ala2Ser)
c.578G>T (p.Gly193Val)
c.575G>T (p.Gly192Val)
16g.31185000C>ACA494928687FUSc.585C>A (p.Gly195=)
c.582C>A (p.Gly194=)
n.650C>A
c.573C>A (p.Gly191=)
n.690C>A
c.5C>A (p.Ala2Glu)
c.579C>A (p.Gly193=)
c.576C>A (p.Gly192=)
16g.31185000C=CA2216944712FUSc.585C= (p.Gly195=)
c.582C= (p.Gly194=)
n.650C=
c.573C= (p.Gly191=)
n.690C=
c.5C= (p.Ala2=)
c.579C= (p.Gly193=)
c.576C= (p.Gly192=)
16g.31185000C>GCA494928688FUSc.585C>G (p.Gly195=)
c.582C>G (p.Gly194=)
n.650C>G
c.573C>G (p.Gly191=)
n.690C>G
c.5C>G (p.Ala2Gly)
c.579C>G (p.Gly193=)
c.576C>G (p.Gly192=)
16g.31185000C>TCA494928690FUSc.585C>T (p.Gly195=)
c.582C>T (p.Gly194=)
n.650C>T
c.573C>T (p.Gly191=)
n.690C>T
c.5C>T (p.Ala2Val)
c.579C>T (p.Gly193=)
c.576C>T (p.Gly192=)
dbSNP gnomAD v4
16g.31185001A>CCA395669723FUSc.586A>C (p.Asn196His)
c.583A>C (p.Asn195His)
n.651A>C
c.574A>C (p.Asn192His)
n.691A>C
c.6A>C (p.Ala2=)
c.580A>C (p.Asn194His)
c.577A>C (p.Asn193His)
16g.31185001A>GCA395669721FUSc.586A>G (p.Asn196Asp)
c.583A>G (p.Asn195Asp)
n.651A>G
c.574A>G (p.Asn192Asp)
n.691A>G
c.6A>G (p.Ala2=)
c.580A>G (p.Asn194Asp)
c.577A>G (p.Asn193Asp)
gnomAD v4
16g.31185001A>TCA395669720FUSc.586A>T (p.Asn196Tyr)
c.583A>T (p.Asn195Tyr)
n.651A>T
c.574A>T (p.Asn192Tyr)
n.691A>T
c.6A>T (p.Ala2=)
c.580A>T (p.Asn194Tyr)
c.577A>T (p.Asn193Tyr)
16g.31185002A=CA2216944716FUSc.587A= (p.Asn196=)
c.584A= (p.Asn195=)
n.652A=
c.575A= (p.Asn192=)
n.692A=
c.7A= (p.Ile3=)
c.581A= (p.Asn194=)
c.578A= (p.Asn193=)
16g.31185002A>CCA395669727FUSc.587A>C (p.Asn196Thr)
c.584A>C (p.Asn195Thr)
n.652A>C
c.575A>C (p.Asn192Thr)
n.692A>C
c.7A>C (p.Ile3Leu)
c.581A>C (p.Asn194Thr)
c.578A>C (p.Asn193Thr)
dbSNP gnomAD v3 gnomAD v4
16g.31185002A>GCA8023715FUSc.587A>G (p.Asn196Ser)
c.584A>G (p.Asn195Ser)
n.652A>G
c.575A>G (p.Asn192Ser)
n.692A>G
c.7A>G (p.Ile3Val)
c.581A>G (p.Asn194Ser)
c.578A>G (p.Asn193Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.31185002A>TCA395669725FUSc.587A>T (p.Asn196Ile)
c.584A>T (p.Asn195Ile)
n.652A>T
c.575A>T (p.Asn192Ile)
n.692A>T
c.7A>T (p.Ile3Phe)
c.581A>T (p.Asn194Ile)
c.578A>T (p.Asn193Ile)
16g.31185003T>ACA395669729FUSc.588T>A (p.Asn196Lys)
c.585T>A (p.Asn195Lys)
n.653T>A
c.576T>A (p.Asn192Lys)
n.693T>A
c.8T>A (p.Ile3Asn)
c.582T>A (p.Asn194Lys)
c.579T>A (p.Asn193Lys)
16g.31185003T>CCA494928694FUSc.588T>C (p.Asn196=)
c.585T>C (p.Asn195=)
n.653T>C
c.576T>C (p.Asn192=)
n.693T>C
c.8T>C (p.Ile3Thr)
c.582T>C (p.Asn194=)
c.579T>C (p.Asn193=)
16g.31185003T>GCA395669731FUSc.588T>G (p.Asn196Lys)
c.585T>G (p.Asn195Lys)
n.653T>G
c.576T>G (p.Asn192Lys)
n.693T>G
c.8T>G (p.Ile3Ser)
c.582T>G (p.Asn194Lys)
c.579T>G (p.Asn193Lys)
16g.31185004C>ACA395669732FUSc.589C>A (p.Gln197Lys)
c.586C>A (p.Gln196Lys)
n.654C>A
c.577C>A (p.Gln193Lys)
n.694C>A
c.9C>A (p.Ile3=)
c.583C>A (p.Gln195Lys)
c.580C>A (p.Gln194Lys)
16g.31185004C=CA2216944722FUSc.589C= (p.Gln197=)
c.586C= (p.Gln196=)
n.654C=
c.577C= (p.Gln193=)
n.694C=
c.9C= (p.Ile3=)
c.583C= (p.Gln195=)
c.580C= (p.Gln194=)
16g.31185004C>GCA395669733FUSc.589C>G (p.Gln197Glu)
c.586C>G (p.Gln196Glu)
n.654C>G
c.577C>G (p.Gln193Glu)
n.694C>G
c.9C>G (p.Ile3Met)
c.583C>G (p.Gln195Glu)
c.580C>G (p.Gln194Glu)
dbSNP gnomAD v3 gnomAD v4
16g.31185004C>TCA395669735FUSc.589C>T (p.Gln197Ter)
c.586C>T (p.Gln196Ter)
n.654C>T
c.577C>T (p.Gln193Ter)
n.694C>T
c.9C>T (p.Ile3=)
c.583C>T (p.Gln195Ter)
c.580C>T (p.Gln194Ter)
16g.31185005A>CCA395669737FUSc.590A>C (p.Gln197Pro)
c.587A>C (p.Gln196Pro)
n.655A>C
c.578A>C (p.Gln193Pro)
n.695A>C
c.10A>C (p.Lys4Gln)
c.584A>C (p.Gln195Pro)
c.581A>C (p.Gln194Pro)
16g.31185005A>GCA395669738FUSc.590A>G (p.Gln197Arg)
c.587A>G (p.Gln196Arg)
n.655A>G
c.578A>G (p.Gln193Arg)
n.695A>G
c.10A>G (p.Lys4Glu)
c.584A>G (p.Gln195Arg)
c.581A>G (p.Gln194Arg)
16g.31185005A>TCA395669740FUSc.590A>T (p.Gln197Leu)
c.587A>T (p.Gln196Leu)
n.655A>T
c.578A>T (p.Gln193Leu)
n.695A>T
c.10A>T (p.Lys4Ter)
c.584A>T (p.Gln195Leu)
c.581A>T (p.Gln194Leu)
16g.31185006A=CA2216944725FUSc.591A= (p.Gln197=)
c.588A= (p.Gln196=)
n.656A=
c.579A= (p.Gln193=)
n.696A=
c.11A= (p.Lys4=)
c.585A= (p.Gln195=)
c.582A= (p.Gln194=)
16g.31185006A>CCA395669742FUSc.591A>C (p.Gln197His)
c.588A>C (p.Gln196His)
n.656A>C
c.579A>C (p.Gln193His)
n.696A>C
c.11A>C (p.Lys4Thr)
c.585A>C (p.Gln195His)
c.582A>C (p.Gln194His)
16g.31185006A>GCA494928699FUSc.591A>G (p.Gln197=)
c.588A>G (p.Gln196=)
n.656A>G
c.579A>G (p.Gln193=)
n.696A>G
c.11A>G (p.Lys4Arg)
c.585A>G (p.Gln195=)
c.582A>G (p.Gln194=)
dbSNP
16g.31185006A>TCA395669744FUSc.591A>T (p.Gln197His)
c.588A>T (p.Gln196His)
n.656A>T
c.579A>T (p.Gln193His)
n.696A>T
c.11A>T (p.Lys4Met)
c.585A>T (p.Gln195His)
c.582A>T (p.Gln194His)
16g.31185007G>ACA395669752FUSc.592G>A (p.Asp198Asn)
c.589G>A (p.Asp197Asn)
n.657G>A
c.580G>A (p.Asp194Asn)
n.697G>A
c.12G>A (p.Lys4=)
c.586G>A (p.Asp196Asn)
c.583G>A (p.Asp195Asn)
16g.31185007G>CCA395669750FUSc.592G>C (p.Asp198His)
c.589G>C (p.Asp197His)
n.657G>C
c.580G>C (p.Asp194His)
n.697G>C
c.12G>C (p.Lys4Asn)
c.586G>C (p.Asp196His)
c.583G>C (p.Asp195His)
16g.31185007G>TCA395669748FUSc.592G>T (p.Asp198Tyr)
c.589G>T (p.Asp197Tyr)
n.657G>T
c.580G>T (p.Asp194Tyr)
n.697G>T
c.12G>T (p.Lys4Asn)
c.586G>T (p.Asp196Tyr)
c.583G>T (p.Asp195Tyr)
COSMIC COSMIC
16g.31185008A>CCA395669755FUSc.593A>C (p.Asp198Ala)
c.590A>C (p.Asp197Ala)
n.658A>C
c.581A>C (p.Asp194Ala)
n.698A>C
c.13A>C (p.Thr5Pro)
c.587A>C (p.Asp196Ala)
c.584A>C (p.Asp195Ala)
16g.31185008A>GCA395669757FUSc.593A>G (p.Asp198Gly)
c.590A>G (p.Asp197Gly)
n.658A>G
c.581A>G (p.Asp194Gly)
n.698A>G
c.13A>G (p.Thr5Ala)
c.587A>G (p.Asp196Gly)
c.584A>G (p.Asp195Gly)
16g.31185008A>TCA395669759FUSc.593A>T (p.Asp198Val)
c.590A>T (p.Asp197Val)
n.658A>T
c.581A>T (p.Asp194Val)
n.698A>T
c.13A>T (p.Thr5Ser)
c.587A>T (p.Asp196Val)
c.584A>T (p.Asp195Val)
16g.31185009C>ACA395669761FUSc.594C>A (p.Asp198Glu)
c.591C>A (p.Asp197Glu)
n.659C>A
c.582C>A (p.Asp194Glu)
n.699C>A
c.14C>A (p.Thr5Asn)
c.588C>A (p.Asp196Glu)
c.585C>A (p.Asp195Glu)
16g.31185009C=CA2216944727FUSc.594C= (p.Asp198=)
c.591C= (p.Asp197=)
n.659C=
c.582C= (p.Asp194=)
n.699C=
c.14C= (p.Thr5=)
c.588C= (p.Asp196=)
c.585C= (p.Asp195=)
16g.31185009C>GCA395669762FUSc.594C>G (p.Asp198Glu)
c.591C>G (p.Asp197Glu)
n.659C>G
c.582C>G (p.Asp194Glu)
n.699C>G
c.14C>G (p.Thr5Ser)
c.588C>G (p.Asp196Glu)
c.585C>G (p.Asp195Glu)
gnomAD v4
16g.31185009C>TCA494928705FUSc.594C>T (p.Asp198=)
c.591C>T (p.Asp197=)
n.659C>T
c.582C>T (p.Asp194=)
n.699C>T
c.14C>T (p.Thr5Ile)
c.588C>T (p.Asp196=)
c.585C>T (p.Asp195=)
dbSNP gnomAD v3 gnomAD v4
16g.31185010C>ACA395669765FUSc.595C>A (p.Gln199Lys)
c.592C>A (p.Gln198Lys)
n.660C>A
c.583C>A (p.Gln195Lys)
n.700C>A
c.15C>A (p.Thr5=)
c.589C>A (p.Gln197Lys)
c.586C>A (p.Gln196Lys)
16g.31185010C=CA2216944733FUSc.595C= (p.Gln199=)
c.592C= (p.Gln198=)
n.660C=
c.583C= (p.Gln195=)
n.700C=
c.15C= (p.Thr5=)
c.589C= (p.Gln197=)
c.586C= (p.Gln196=)
16g.31185010C>GCA395669766FUSc.595C>G (p.Gln199Glu)
c.592C>G (p.Gln198Glu)
n.660C>G
c.583C>G (p.Gln195Glu)
n.700C>G
c.15C>G (p.Thr5=)
c.589C>G (p.Gln197Glu)
c.586C>G (p.Gln196Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31185010C>TCA395669769FUSc.595C>T (p.Gln199Ter)
c.592C>T (p.Gln198Ter)
n.660C>T
c.583C>T (p.Gln195Ter)
n.700C>T
c.15C>T (p.Thr5=)
c.589C>T (p.Gln197Ter)
c.586C>T (p.Gln196Ter)
16g.31185011A>CCA395669772FUSc.596A>C (p.Gln199Pro)
c.593A>C (p.Gln198Pro)
n.661A>C
c.584A>C (p.Gln195Pro)
n.701A>C
c.16A>C (p.Arg6=)
c.590A>C (p.Gln197Pro)
c.587A>C (p.Gln196Pro)
16g.31185011A>GCA395669774FUSc.596A>G (p.Gln199Arg)
c.593A>G (p.Gln198Arg)
n.661A>G
c.584A>G (p.Gln195Arg)
n.701A>G
c.16A>G (p.Arg6Gly)
c.590A>G (p.Gln197Arg)
c.587A>G (p.Gln196Arg)
16g.31185011A>TCA395669777FUSc.596A>T (p.Gln199Leu)
c.593A>T (p.Gln198Leu)
n.661A>T
c.584A>T (p.Gln195Leu)
n.701A>T
c.16A>T (p.Arg6Ter)
c.590A>T (p.Gln197Leu)
c.587A>T (p.Gln196Leu)
16g.31185012G>ACA494928709FUSc.597G>A (p.Gln199=)
c.594G>A (p.Gln198=)
n.662G>A
c.585G>A (p.Gln195=)
n.702G>A
c.17G>A (p.Arg6Lys)
c.591G>A (p.Gln197=)
c.588G>A (p.Gln196=)
gnomAD v4
16g.31185012G>CCA8023716FUSc.597G>C (p.Gln199His)
c.594G>C (p.Gln198His)
n.662G>C
c.585G>C (p.Gln195His)
n.702G>C
c.17G>C (p.Arg6Thr)
c.591G>C (p.Gln197His)
c.588G>C (p.Gln196His)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31185012G=CA2216944736FUSc.597G= (p.Gln199=)
c.594G= (p.Gln198=)
n.662G=
c.585G= (p.Gln195=)
n.702G=
c.17G= (p.Arg6=)
c.591G= (p.Gln197=)
c.588G= (p.Gln196=)
16g.31185012G>TCA395669779FUSc.597G>T (p.Gln199His)
c.594G>T (p.Gln198His)
n.662G>T
c.585G>T (p.Gln195His)
n.702G>T
c.17G>T (p.Arg6Ile)
c.591G>T (p.Gln197His)
c.588G>T (p.Gln196His)
16g.31185013A>CCA395669784FUSc.598A>C (p.Ser200Arg)
c.595A>C (p.Ser199Arg)
n.663A>C
c.586A>C (p.Ser196Arg)
n.703A>C
c.18A>C (p.Arg6Ser)
c.592A>C (p.Ser198Arg)
c.589A>C (p.Ser197Arg)
16g.31185013A>GCA395669786FUSc.598A>G (p.Ser200Gly)
c.595A>G (p.Ser199Gly)
n.663A>G
c.586A>G (p.Ser196Gly)
n.703A>G
c.18A>G (p.Arg6=)
c.592A>G (p.Ser198Gly)
c.589A>G (p.Ser197Gly)
16g.31185013A>TCA395669781FUSc.598A>T (p.Ser200Cys)
c.595A>T (p.Ser199Cys)
n.663A>T
c.586A>T (p.Ser196Cys)
n.703A>T
c.18A>T (p.Arg6Ser)
c.592A>T (p.Ser198Cys)
c.589A>T (p.Ser197Cys)
16g.31185013_31185016delinsAGTGCA2216944739FUSc.598_601delinsAGTG (p.Ser200=)
c.595_598delinsAGTG (p.Ser199=)
n.663_666delinsAGTG
c.586_589delinsAGTG (p.Ser196=)
n.703_706delinsAGTG
c.18_21delinsAGTG (p.Arg6=)
c.592_595delinsAGTG (p.Ser198=)
c.589_592delinsAGTG (p.Ser197=)
16g.31185014G>ACA395669787FUSc.599G>A (p.Ser200Asn)
c.596G>A (p.Ser199Asn)
n.664G>A
c.587G>A (p.Ser196Asn)
n.704G>A
c.19G>A (p.Val7Met)
c.593G>A (p.Ser198Asn)
c.590G>A (p.Ser197Asn)
dbSNP gnomAD v3 gnomAD v4
16g.31185014G>CCA395669789FUSc.599G>C (p.Ser200Thr)
c.596G>C (p.Ser199Thr)
n.664G>C
c.587G>C (p.Ser196Thr)
n.704G>C
c.19G>C (p.Val7Leu)
c.593G>C (p.Ser198Thr)
c.590G>C (p.Ser197Thr)
16g.31185014G=CA2216944742FUSc.599G= (p.Ser200=)
c.596G= (p.Ser199=)
n.664G=
c.587G= (p.Ser196=)
n.704G=
c.19G= (p.Val7=)
c.593G= (p.Ser198=)
c.590G= (p.Ser197=)
16g.31185014G>TCA395669788FUSc.599G>T (p.Ser200Ile)
c.596G>T (p.Ser199Ile)
n.664G>T
c.587G>T (p.Ser196Ile)
n.704G>T
c.19G>T (p.Val7Leu)
c.593G>T (p.Ser198Ile)
c.590G>T (p.Ser197Ile)
16g.31185018_31185020delCA622172601FUSc.603_605del (p.Gly202del)
c.600_602del (p.Gly201del)
n.668_670del
c.591_593del (p.Gly198del)
n.708_710del
c.23_25del (p.Val8del)
c.597_599del (p.Gly200del)
c.594_596del (p.Gly199del)
dbSNP gnomAD v2 gnomAD v4
16g.31185015T>ACA395669790FUSc.600T>A (p.Ser200Arg)
c.597T>A (p.Ser199Arg)
n.665T>A
c.588T>A (p.Ser196Arg)
n.705T>A
c.20T>A (p.Val7Glu)
c.594T>A (p.Ser198Arg)
c.591T>A (p.Ser197Arg)
16g.31185015T>CCA494928716FUSc.600T>C (p.Ser200=)
c.597T>C (p.Ser199=)
n.665T>C
c.588T>C (p.Ser196=)
n.705T>C
c.20T>C (p.Val7Ala)
c.594T>C (p.Ser198=)
c.591T>C (p.Ser197=)
gnomAD v4
16g.31185015T>GCA395669791FUSc.600T>G (p.Ser200Arg)
c.597T>G (p.Ser199Arg)
n.665T>G
c.588T>G (p.Ser196Arg)
n.705T>G
c.20T>G (p.Val7Gly)
c.594T>G (p.Ser198Arg)
c.591T>G (p.Ser197Arg)
gnomAD v3 gnomAD v4
16g.31185016G>ACA395669793FUSc.601G>A (p.Gly201Ser)
c.598G>A (p.Gly200Ser)
n.666G>A
c.589G>A (p.Gly197Ser)
n.706G>A
c.21G>A (p.Val7=)
c.595G>A (p.Gly199Ser)
c.592G>A (p.Gly198Ser)
16g.31185016G>CCA395669794FUSc.601G>C (p.Gly201Arg)
c.598G>C (p.Gly200Arg)
n.666G>C
c.589G>C (p.Gly197Arg)
n.706G>C
c.21G>C (p.Val7=)
c.595G>C (p.Gly199Arg)
c.592G>C (p.Gly198Arg)
16g.31185016G>TCA395669795FUSc.601G>T (p.Gly201Cys)
c.598G>T (p.Gly200Cys)
n.666G>T
c.589G>T (p.Gly197Cys)
n.706G>T
c.21G>T (p.Val7=)
c.595G>T (p.Gly199Cys)
c.592G>T (p.Gly198Cys)
16g.31185016_31185052delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACCCA2216944745FUSc.601_637delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly201=)
c.598_634delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly200=)
n.666_702delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC
c.589_625delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly197=)
n.706_742delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC
c.21_57delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Val7=)
c.595_631delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly199=)
c.592_628delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly198=)
16g.31185017G>ACA395669798FUSc.602G>A (p.Gly201Asp)
c.599G>A (p.Gly200Asp)
n.667G>A
c.590G>A (p.Gly197Asp)
n.707G>A
c.22G>A (p.Val8Met)
c.596G>A (p.Gly199Asp)
c.593G>A (p.Gly198Asp)
dbSNP gnomAD v3 gnomAD v4
16g.31185017G>CCA395669801FUSc.602G>C (p.Gly201Ala)
c.599G>C (p.Gly200Ala)
n.667G>C
c.590G>C (p.Gly197Ala)
n.707G>C
c.22G>C (p.Val8Leu)
c.596G>C (p.Gly199Ala)
c.593G>C (p.Gly198Ala)
16g.31185017G=CA2216944754FUSc.602G= (p.Gly201=)
c.599G= (p.Gly200=)
n.667G=
c.590G= (p.Gly197=)
n.707G=
c.22G= (p.Val8=)
c.596G= (p.Gly199=)
c.593G= (p.Gly198=)
16g.31185017G>TCA8023717FUSc.602G>T (p.Gly201Val)
c.599G>T (p.Gly200Val)
n.667G>T
c.590G>T (p.Gly197Val)
n.707G>T
c.22G>T (p.Val8Leu)
c.596G>T (p.Gly199Val)
c.593G>T (p.Gly198Val)
dbSNP ExAC gnomAD v3 gnomAD v4
16g.31185024_31185059delCA2216944752FUSc.609_644del (p.Gly204_Gly215del)
c.606_641del (p.Gly203_Gly214del)
n.674_709del
c.597_632del (p.Gly200_Gly211del)
n.714_749del
c.29_64del (p.Val10_Glu21del)
c.603_638del (p.Gly202_Gly213del)
c.600_635del (p.Gly201_Gly212del)
dbSNP
16g.31185018T>ACA494928721FUSc.603T>A (p.Gly201=)
c.600T>A (p.Gly200=)
n.668T>A
c.591T>A (p.Gly197=)
n.708T>A
c.23T>A (p.Val8Glu)
c.597T>A (p.Gly199=)
c.594T>A (p.Gly198=)
16g.31185018T>CCA494928723FUSc.603T>C (p.Gly201=)
c.600T>C (p.Gly200=)
n.668T>C
c.591T>C (p.Gly197=)
n.708T>C
c.23T>C (p.Val8Ala)
c.597T>C (p.Gly199=)
c.594T>C (p.Gly198=)
16g.31185018T>GCA494928722FUSc.603T>G (p.Gly201=)
c.600T>G (p.Gly200=)
n.668T>G
c.591T>G (p.Gly197=)
n.708T>G
c.23T>G (p.Val8Gly)
c.597T>G (p.Gly199=)
c.594T>G (p.Gly198=)
16g.31185019G>ACA280594716FUSc.604G>A (p.Gly202Arg)
c.601G>A (p.Gly201Arg)
n.669G>A
c.592G>A (p.Gly198Arg)
n.709G>A
c.24G>A (p.Val8=)
c.598G>A (p.Gly200Arg)
c.595G>A (p.Gly199Arg)
dbSNP gnomAD v4
16g.31185019G>CCA395669806FUSc.604G>C (p.Gly202Arg)
c.601G>C (p.Gly201Arg)
n.669G>C
c.592G>C (p.Gly198Arg)
n.709G>C
c.24G>C (p.Val8=)
c.598G>C (p.Gly200Arg)
c.595G>C (p.Gly199Arg)
16g.31185019G=CA2216944762FUSc.604G= (p.Gly202=)
c.601G= (p.Gly201=)
n.669G=
c.592G= (p.Gly198=)
n.709G=
c.24G= (p.Val8=)
c.598G= (p.Gly200=)
c.595G= (p.Gly199=)
16g.31185019G>TCA395669808FUSc.604G>T (p.Gly202Ter)
c.601G>T (p.Gly201Ter)
n.669G>T
c.592G>T (p.Gly198Ter)
n.709G>T
c.24G>T (p.Val8=)
c.598G>T (p.Gly200Ter)
c.595G>T (p.Gly199Ter)
16g.31185020G>ACA395669814FUSc.605G>A (p.Gly202Glu)
c.602G>A (p.Gly201Glu)
n.670G>A
c.593G>A (p.Gly198Glu)
n.710G>A
c.25G>A (p.Glu9Lys)
c.599G>A (p.Gly200Glu)
c.596G>A (p.Gly199Glu)
16g.31185020G>CCA395669812FUSc.605G>C (p.Gly202Ala)
c.602G>C (p.Gly201Ala)
n.670G>C
c.593G>C (p.Gly198Ala)
n.710G>C
c.25G>C (p.Glu9Gln)
c.599G>C (p.Gly200Ala)
c.596G>C (p.Gly199Ala)
gnomAD v4
16g.31185020G>TCA395669811FUSc.605G>T (p.Gly202Val)
c.602G>T (p.Gly201Val)
n.670G>T
c.593G>T (p.Gly198Val)
n.710G>T
c.25G>T (p.Glu9Ter)
c.599G>T (p.Gly200Val)
c.596G>T (p.Gly199Val)
16g.31185021A=CA2216944768FUSc.606A= (p.Gly202=)
c.603A= (p.Gly201=)
n.671A=
c.594A= (p.Gly198=)
n.711A=
c.26A= (p.Glu9=)
c.600A= (p.Gly200=)
c.597A= (p.Gly199=)
16g.31185021A>CCA494928726FUSc.606A>C (p.Gly202=)
c.603A>C (p.Gly201=)
n.671A>C
c.594A>C (p.Gly198=)
n.711A>C
c.26A>C (p.Glu9Ala)
c.600A>C (p.Gly200=)
c.597A>C (p.Gly199=)
16g.31185021A>GCA494928727FUSc.606A>G (p.Gly202=)
c.603A>G (p.Gly201=)
n.671A>G
c.594A>G (p.Gly198=)
n.711A>G
c.26A>G (p.Glu9Gly)
c.600A>G (p.Gly200=)
c.597A>G (p.Gly199=)
16g.31185021A>TCA280594719FUSc.606A>T (p.Gly202=)
c.603A>T (p.Gly201=)
n.671A>T
c.594A>T (p.Gly198=)
n.711A>T
c.26A>T (p.Glu9Val)
c.600A>T (p.Gly200=)
c.597A>T (p.Gly199=)
dbSNP
16g.31185022G>ACA395669821FUSc.607G>A (p.Gly203Ser)
c.604G>A (p.Gly202Ser)
n.672G>A
c.595G>A (p.Gly199Ser)
n.712G>A
c.27G>A (p.Glu9=)
c.601G>A (p.Gly201Ser)
c.598G>A (p.Gly200Ser)
16g.31185022G>CCA395669822FUSc.607G>C (p.Gly203Arg)
c.604G>C (p.Gly202Arg)
n.672G>C
c.595G>C (p.Gly199Arg)
n.712G>C
c.27G>C (p.Glu9Asp)
c.601G>C (p.Gly201Arg)
c.598G>C (p.Gly200Arg)
16g.31185022G>TCA395669824FUSc.607G>T (p.Gly203Cys)
c.604G>T (p.Gly202Cys)
n.672G>T
c.595G>T (p.Gly199Cys)
n.712G>T
c.27G>T (p.Glu9Asp)
c.601G>T (p.Gly201Cys)
c.598G>T (p.Gly200Cys)
16g.31185028_31185036delCA2580091516FUSc.613_621del (p.Ser205_Gly207del)
c.610_618del (p.Ser204_Gly206del)
n.678_686del
c.601_609del (p.Ser201_Gly203del)
n.718_726del
c.33_41del (p.Ala12_Ala14del)
c.607_615del (p.Ser203_Gly205del)
c.604_612del (p.Ser202_Gly204del)
ClinVar
16g.31185023G>ACA395669827FUSc.608G>A (p.Gly203Asp)
c.605G>A (p.Gly202Asp)
n.673G>A
c.596G>A (p.Gly199Asp)
n.713G>A
c.28G>A (p.Val10Met)
c.602G>A (p.Gly201Asp)
c.599G>A (p.Gly200Asp)
ClinVar dbSNP gnomAD v4
16g.31185023G>CCA395669828FUSc.608G>C (p.Gly203Ala)
c.605G>C (p.Gly202Ala)
n.673G>C
c.596G>C (p.Gly199Ala)
n.713G>C
c.28G>C (p.Val10Leu)
c.602G>C (p.Gly201Ala)
c.599G>C (p.Gly200Ala)
16g.31185023G=CA2216944771FUSc.608G= (p.Gly203=)
c.605G= (p.Gly202=)
n.673G=
c.596G= (p.Gly199=)
n.713G=
c.28G= (p.Val10=)
c.602G= (p.Gly201=)
c.599G= (p.Gly200=)
16g.31185023G>TCA395669830FUSc.608G>T (p.Gly203Val)
c.605G>T (p.Gly202Val)
n.673G>T
c.596G>T (p.Gly199Val)
n.713G>T
c.28G>T (p.Val10Leu)
c.602G>T (p.Gly201Val)
c.599G>T (p.Gly200Val)
16g.31185024T>ACA494928730FUSc.609T>A (p.Gly203=)
c.606T>A (p.Gly202=)
n.674T>A
c.597T>A (p.Gly199=)
n.714T>A
c.29T>A (p.Val10Glu)
c.603T>A (p.Gly201=)
c.600T>A (p.Gly200=)
16g.31185024T>CCA494928731FUSc.609T>C (p.Gly203=)
c.606T>C (p.Gly202=)
n.674T>C
c.597T>C (p.Gly199=)
n.714T>C
c.29T>C (p.Val10Ala)
c.603T>C (p.Gly201=)
c.600T>C (p.Gly200=)
16g.31185024T>GCA494928732FUSc.609T>G (p.Gly203=)
c.606T>G (p.Gly202=)
n.674T>G
c.597T>G (p.Gly199=)
n.714T>G
c.29T>G (p.Val10Gly)
c.603T>G (p.Gly201=)
c.600T>G (p.Gly200=)
dbSNP
16g.31185024T=CA2216944777FUSc.609T= (p.Gly203=)
c.606T= (p.Gly202=)
n.674T=
c.597T= (p.Gly199=)
n.714T=
c.29T= (p.Val10=)
c.603T= (p.Gly201=)
c.600T= (p.Gly200=)
16g.31185025G>ACA395669832FUSc.610G>A (p.Gly204Ser)
c.607G>A (p.Gly203Ser)
n.675G>A
c.598G>A (p.Gly200Ser)
n.715G>A
c.30G>A (p.Val10=)
c.604G>A (p.Gly202Ser)
c.601G>A (p.Gly201Ser)
gnomAD v4
16g.31185025G>CCA395669834FUSc.610G>C (p.Gly204Arg)
c.607G>C (p.Gly203Arg)
n.675G>C
c.598G>C (p.Gly200Arg)
n.715G>C
c.30G>C (p.Val10=)
c.604G>C (p.Gly202Arg)
c.601G>C (p.Gly201Arg)
16g.31185025G>TCA395669837FUSc.610G>T (p.Gly204Cys)
c.607G>T (p.Gly203Cys)
n.675G>T
c.598G>T (p.Gly200Cys)
n.715G>T
c.30G>T (p.Val10=)
c.604G>T (p.Gly202Cys)
c.601G>T (p.Gly201Cys)
16g.31185026G>ACA395669840FUSc.611G>A (p.Gly204Asp)
c.608G>A (p.Gly203Asp)
n.676G>A
c.599G>A (p.Gly200Asp)
n.716G>A
c.31G>A (p.Ala11Thr)
c.605G>A (p.Gly202Asp)
c.602G>A (p.Gly201Asp)
dbSNP gnomAD v2 gnomAD v4
16g.31185026G>CCA395669841FUSc.611G>C (p.Gly204Ala)
c.608G>C (p.Gly203Ala)
n.676G>C
c.599G>C (p.Gly200Ala)
n.716G>C
c.31G>C (p.Ala11Pro)
c.605G>C (p.Gly202Ala)
c.602G>C (p.Gly201Ala)
16g.31185026G=CA2216944780FUSc.611G= (p.Gly204=)
c.608G= (p.Gly203=)
n.676G=
c.599G= (p.Gly200=)
n.716G=
c.31G= (p.Ala11=)
c.605G= (p.Gly202=)
c.602G= (p.Gly201=)
16g.31185026G>TCA395669843FUSc.611G>T (p.Gly204Val)
c.608G>T (p.Gly203Val)
n.676G>T
c.599G>T (p.Gly200Val)
n.716G>T
c.31G>T (p.Ala11Ser)
c.605G>T (p.Gly202Val)
c.602G>T (p.Gly201Val)
COSMIC
16g.31185027C>ACA494928743FUSc.612C>A (p.Gly204=)
c.609C>A (p.Gly203=)
n.677C>A
c.600C>A (p.Gly200=)
n.717C>A
c.32C>A (p.Ala11Glu)
c.606C>A (p.Gly202=)
c.603C>A (p.Gly201=)
16g.31185027C=CA2216944785FUSc.612C= (p.Gly204=)
c.609C= (p.Gly203=)
n.677C=
c.600C= (p.Gly200=)
n.717C=
c.32C= (p.Ala11=)
c.606C= (p.Gly202=)
c.603C= (p.Gly201=)
16g.31185027C>GCA494928739FUSc.612C>G (p.Gly204=)
c.609C>G (p.Gly203=)
n.677C>G
c.600C>G (p.Gly200=)
n.717C>G
c.32C>G (p.Ala11Gly)
c.606C>G (p.Gly202=)
c.603C>G (p.Gly201=)
16g.31185027C>TCA494928741FUSc.612C>T (p.Gly204=)
c.609C>T (p.Gly203=)
n.677C>T
c.600C>T (p.Gly200=)
n.717C>T
c.32C>T (p.Ala11Val)
c.606C>T (p.Gly202=)
c.603C>T (p.Gly201=)
dbSNP gnomAD v4
16g.31185028A=CA2216944787FUSc.613A= (p.Ser205=)
c.610A= (p.Ser204=)
n.678A=
c.601A= (p.Ser201=)
n.718A=
c.33A= (p.Ala11=)
c.607A= (p.Ser203=)
c.604A= (p.Ser202=)
16g.31185028A>CCA395669846FUSc.613A>C (p.Ser205Arg)
c.610A>C (p.Ser204Arg)
n.678A>C
c.601A>C (p.Ser201Arg)
n.718A>C
c.33A>C (p.Ala11=)
c.607A>C (p.Ser203Arg)
c.604A>C (p.Ser202Arg)
16g.31185028A>GCA8023718FUSc.613A>G (p.Ser205Gly)
c.610A>G (p.Ser204Gly)
n.678A>G
c.601A>G (p.Ser201Gly)
n.718A>G
c.33A>G (p.Ala11=)
c.607A>G (p.Ser203Gly)
c.604A>G (p.Ser202Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.31185028A>TCA395669845FUSc.613A>T (p.Ser205Cys)
c.610A>T (p.Ser204Cys)
n.678A>T
c.601A>T (p.Ser201Cys)
n.718A>T
c.33A>T (p.Ala11=)
c.607A>T (p.Ser203Cys)
c.604A>T (p.Ser202Cys)
16g.31185029G>ACA395669850FUSc.614G>A (p.Ser205Asn)
c.611G>A (p.Ser204Asn)
n.679G>A
c.602G>A (p.Ser201Asn)
n.719G>A
c.34G>A (p.Ala12Thr)
c.608G>A (p.Ser203Asn)
c.605G>A (p.Ser202Asn)
gnomAD v4
16g.31185029G>CCA395669847FUSc.614G>C (p.Ser205Thr)
c.611G>C (p.Ser204Thr)
n.679G>C
c.602G>C (p.Ser201Thr)
n.719G>C
c.34G>C (p.Ala12Pro)
c.608G>C (p.Ser203Thr)
c.605G>C (p.Ser202Thr)
gnomAD v4
16g.31185029G>TCA395669849FUSc.614G>T (p.Ser205Ile)
c.611G>T (p.Ser204Ile)
n.679G>T
c.602G>T (p.Ser201Ile)
n.719G>T
c.34G>T (p.Ala12Ser)
c.608G>T (p.Ser203Ile)
c.605G>T (p.Ser202Ile)

Number of alleles fetched