Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.31184388_31184941del | CA2573130373 | FUS | c.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 | |
16 | g.31184927_31184930del | CA8023695 | FUS | c.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 |
16 | g.31184931del | CA622172594 | FUS | c.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 |
16 | g.31184930T>C | CA2632838893 | FUS | c.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 |
16 | g.31184931T>C | CA8023700 | FUS | c.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 |
16 | g.31184931T= | CA2216944349 | FUS | c.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=) | |
16 | g.31184932C>A | CA2632838896 | FUS | c.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 |
16 | g.31184932C= | CA2216944359 | FUS | c.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=) | |
16 | g.31184932C>G | CA8023701 | FUS | c.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 |
16 | g.31184932C>T | CA280594610 | FUS | c.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 |
16 | g.31184934C>A | CA2731880434 | FUS | c.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 |
16 | g.31184934C= | CA2216944594 | FUS | c.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=) | |
16 | g.31184934C>T | CA8023702 | FUS | c.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 |
16 | g.31184935A= | CA2216944604 | FUS | c.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=) | |
16 | g.31184935A>C | CA2632838904 | FUS | c.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 |
16 | g.31184935A>G | CA2216944606 | FUS | c.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 |
16 | g.31184935A>T | CA976356909 | FUS | c.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 |
16 | g.31184937A>C | CA395669457 | FUS | c.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) | |
16 | g.31184937A>G | CA395669451 | FUS | c.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) | |
16 | g.31184937A>T | CA395669454 | FUS | c.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) | |
16 | g.31184938G>A | CA395669460 | FUS | c.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) | |
16 | g.31184938G>C | CA395669461 | FUS | c.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) | |
16 | g.31184938G>T | CA395669464 | FUS | c.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) | |
16 | g.31184939G>A | CA395669465 | FUS | c.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 |
16 | g.31184939G>C | CA395669468 | FUS | c.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 |
16 | g.31184939G>T | CA395669470 | FUS | c.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) | |
16 | g.31184940T>A | CA494928615 | FUS | c.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=) | |
16 | g.31184940T>C | CA494928616 | FUS | c.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=) | |
16 | g.31184940T>G | CA494928617 | FUS | c.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=) | |
16 | g.31184941A>C | CA395669474 | FUS | c.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) | |
16 | g.31184941A>G | CA395669475 | FUS | c.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 |
16 | g.31184941A>T | CA395669478 | FUS | c.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) | |
16 | g.31184942A= | CA2216944608 | FUS | c.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=) | |
16 | g.31184942A>C | CA395669481 | FUS | c.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) | |
16 | g.31184942A>G | CA395669484 | FUS | c.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 |
16 | g.31184942A>T | CA395669489 | FUS | c.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) | |
16 | g.31184943C>A | CA395669492 | FUS | c.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) | |
16 | g.31184943C= | CA2216944611 | FUS | c.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=) | |
16 | g.31184943C>G | CA395669495 | FUS | c.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 |
16 | g.31184943C>T | CA494928619 | FUS | c.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 |
16 | g.31184944T>A | CA395669498 | FUS | c.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) | |
16 | g.31184944T>C | CA8023703 | FUS | c.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 |
16 | g.31184944T>G | CA395669504 | FUS | c.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) | |
16 | g.31184944T= | CA2216944615 | FUS | c.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=) | |
16 | g.31184945A= | CA2216944617 | FUS | c.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=) | |
16 | g.31184945A>C | CA395669506 | FUS | c.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) | |
16 | g.31184945A>G | CA8023704 | FUS | c.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 |
16 | g.31184945A>T | CA395669510 | FUS | c.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) | |
16 | g.31184946T>A | CA395669513 | FUS | c.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) | |
16 | g.31184946T>C | CA494928620 | FUS | c.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 |
16 | g.31184946T>G | CA395669514 | FUS | c.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) | |
16 | g.31184947G>A | CA8023705 | FUS | c.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 |
16 | g.31184947G>C | CA395669517 | FUS | c.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) | |
16 | g.31184947G= | CA2216944622 | FUS | c.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=) | |
16 | g.31184947G>T | CA395669519 | FUS | c.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) | |
16 | g.31184948G>A | CA395669527 | FUS | c.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 |
16 | g.31184948G>C | CA395669525 | FUS | c.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) | |
16 | g.31184948G>T | CA395669523 | FUS | c.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) | |
16 | g.31184949C>A | CA494928622 | FUS | c.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=) | |
16 | g.31184949C>G | CA494928623 | FUS | c.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=) | |
16 | g.31184949C>T | CA494928625 | FUS | c.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 |
16 | g.31184950C>A | CA395669530 | FUS | c.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) | |
16 | g.31184950C>G | CA395669531 | FUS | c.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) | |
16 | g.31184950C>T | CA395669534 | FUS | c.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) | |
16 | g.31184951A= | CA2216944624 | FUS | c.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=) | |
16 | g.31184951A>C | CA395669537 | FUS | c.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) | |
16 | g.31184951A>G | CA395669539 | FUS | c.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 |
16 | g.31184951A>T | CA395669541 | FUS | c.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) | |
16 | g.31184952A= | CA2216944627 | FUS | c.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=) | |
16 | g.31184952A>C | CA395669543 | FUS | c.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 |
16 | g.31184952A>G | CA494928626 | FUS | c.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 |
16 | g.31184952A>T | CA395669546 | FUS | c.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) | |
16 | g.31184953G>A | CA395669548 | FUS | c.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) | |
16 | g.31184953G>C | CA395669550 | FUS | c.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) | |
16 | g.31184953G>T | CA395669552 | FUS | c.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) | |
16 | g.31184954A= | CA2216944632 | FUS | c.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=) | |
16 | g.31184954A>C | CA395669556 | FUS | c.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) | |
16 | g.31184954A>G | CA395669558 | FUS | c.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 |
16 | g.31184954A>T | CA395669559 | FUS | c.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) | |
16 | g.31184955T>A | CA395669562 | FUS | c.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) | |
16 | g.31184955T>C | CA494928628 | FUS | c.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=) | |
16 | g.31184955T>G | CA395669564 | FUS | c.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 |
16 | g.31184956C>A | CA395669566 | FUS | c.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) | |
16 | g.31184956C>G | CA395669569 | FUS | c.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) | |
16 | g.31184956C>T | CA395669571 | FUS | c.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) | |
16 | g.31184957A>C | CA395669573 | FUS | c.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) | |
16 | g.31184957A>G | CA395669574 | FUS | c.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) | |
16 | g.31184957A>T | CA395669576 | FUS | c.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) | |
16 | g.31184958A= | CA2216944637 | FUS | c.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=) | |
16 | g.31184958A>C | CA395669577 | FUS | c.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) | |
16 | g.31184958A>G | CA280594639 | FUS | c.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 |
16 | g.31184958A>T | CA395669579 | FUS | c.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) | |
16 | g.31184959T>A | CA395669581 | FUS | c.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) | |
16 | g.31184959T>C | CA395669583 | FUS | c.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) | |
16 | g.31184959T>G | CA395669584 | FUS | c.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) | |
16 | g.31184960C>A | CA395669585 | FUS | c.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) | |
16 | g.31184960C= | CA2216944642 | FUS | c.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=) | |
16 | g.31184960C>G | CA395669587 | FUS | c.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) | |
16 | g.31184960C>T | CA280594644 | FUS | c.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 |
16 | g.31184961C>A | CA494928632 | FUS | c.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 |
16 | g.31184961C= | CA2216944646 | FUS | c.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=) | |
16 | g.31184961C>G | CA494928633 | FUS | c.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=) | |
16 | g.31184961C>T | CA8023706 | FUS | c.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 |
16 | g.31184962T>A | CA395669593 | FUS | c.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) | |
16 | g.31184962T>C | CA395669590 | FUS | c.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) | |
16 | g.31184962T>G | CA395669591 | FUS | c.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) | |
16 | g.31184963C>A | CA395669595 | FUS | c.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) | |
16 | g.31184963C>G | CA395669597 | FUS | c.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) | |
16 | g.31184963C>T | CA395669598 | FUS | c.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) | |
16 | g.31184964C>A | CA494928635 | FUS | c.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=) | |
16 | g.31184964C>G | CA494928636 | FUS | c.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=) | |
16 | g.31184964C>T | CA494928637 | FUS | c.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 |
16 | g.31184965A= | CA2216944650 | FUS | c.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=) | |
16 | g.31184965A>C | CA8023707 | FUS | c.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 |
16 | g.31184965A>G | CA395669600 | FUS | c.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 |
16 | g.31184965A>T | CA395669599 | FUS | c.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) | |
16 | g.31184966T>A | CA395669601 | FUS | c.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) | |
16 | g.31184966T>C | CA395669603 | FUS | c.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) | |
16 | g.31184966T>G | CA395669604 | FUS | c.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 |
16 | g.31184966T= | CA2216944655 | FUS | c.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=) | |
16 | g.31184967G>A | CA395669605 | FUS | c.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 |
16 | g.31184967G>C | CA395669606 | FUS | c.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) | |
16 | g.31184967G>T | CA395669607 | FUS | c.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) | |
16 | g.31184968A>C | CA395669609 | FUS | c.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) | |
16 | g.31184968A>G | CA395669612 | FUS | c.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) | |
16 | g.31184968A>T | CA395669610 | FUS | c.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) | |
16 | g.31184969G>A | CA395669613 | FUS | c.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) | |
16 | g.31184969G>C | CA395669614 | FUS | c.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) | |
16 | g.31184969G>T | CA395669615 | FUS | c.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) | |
16 | g.31184970T>A | CA395669616 | FUS | c.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) | |
16 | g.31184970T>C | CA494928641 | FUS | c.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=) | |
16 | g.31184970T>G | CA8023708 | FUS | c.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 |
16 | g.31184970T= | CA2216944657 | FUS | c.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=) | |
16 | g.31184971A>C | CA395669617 | FUS | c.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) | |
16 | g.31184971A>G | CA395669618 | FUS | c.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) | |
16 | g.31184971A>T | CA395669619 | FUS | c.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) | |
16 | g.31184972G>A | CA395669620 | FUS | c.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 |
16 | g.31184972G>C | CA395669622 | FUS | c.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) | |
16 | g.31184972G= | CA2216944660 | FUS | c.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=) | |
16 | g.31184972G>T | CA8023709 | FUS | c.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 |
16 | g.31184973T>A | CA395669626 | FUS | c.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) | |
16 | g.31184973T>C | CA494928645 | FUS | c.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=) | |
16 | g.31184973T>G | CA395669624 | FUS | c.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) | |
16 | g.31184974G>A | CA8023710 | FUS | c.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 |
16 | g.31184974G>C | CA395669628 | FUS | c.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) | |
16 | g.31184974G= | CA2216944664 | FUS | c.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=) | |
16 | g.31184974G>T | CA395669630 | FUS | c.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 |
16 | g.31184974_31184983delinsGGTGGTGGCA | CA2216944666 | FUS | c.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=) | |
16 | g.31184975G>A | CA395669633 | FUS | c.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) | |
16 | g.31184975G>C | CA395669634 | FUS | c.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) | |
16 | g.31184975G>T | CA395669635 | FUS | c.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) | |
16 | g.31184983_31184991del | CA8023711 | FUS | c.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 |
16 | g.31184976T>A | CA494928651 | FUS | c.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=) | |
16 | g.31184976T>C | CA494928650 | FUS | c.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=) | |
16 | g.31184976T>G | CA494928649 | FUS | c.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=) | |
16 | g.31184977G>A | CA395669638 | FUS | c.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 |
16 | g.31184977G>C | CA395669640 | FUS | c.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) | |
16 | g.31184977G>T | CA395669641 | FUS | c.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) | |
16 | g.31184978G>A | CA395669642 | FUS | c.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) | |
16 | g.31184978G>C | CA395669643 | FUS | c.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) | |
16 | g.31184978G>T | CA395669645 | FUS | c.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) | |
16 | g.31184979T>A | CA494928655 | FUS | c.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=) | |
16 | g.31184979T>C | CA494928653 | FUS | c.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 |
16 | g.31184979T>G | CA494928654 | FUS | c.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=) | |
16 | g.31184980G>A | CA395669650 | FUS | c.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) | |
16 | g.31184980G>C | CA395669649 | FUS | c.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) | |
16 | g.31184980G>T | CA395669647 | FUS | c.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) | |
16 | g.31184981G>A | CA395669652 | FUS | c.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 |
16 | g.31184981G>C | CA395669654 | FUS | c.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) | |
16 | g.31184981G= | CA2216944669 | FUS | c.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=) | |
16 | g.31184981G>T | CA395669655 | FUS | c.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) | |
16 | g.31184982C>A | CA494928658 | FUS | c.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=) | |
16 | g.31184982C= | CA2216944671 | FUS | c.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=) | |
16 | g.31184982C>G | CA494928657 | FUS | c.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=) | |
16 | g.31184982C>T | CA494928656 | FUS | c.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 |
16 | g.31184982_31184988delinsCAGTGGT | CA2216944673 | FUS | c.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=) | |
16 | g.31184983A= | CA2216944676 | FUS | c.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=) | |
16 | g.31184983A>C | CA395669657 | FUS | c.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) | |
16 | g.31184983A>G | CA8023712 | FUS | c.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 |
16 | g.31184983A>T | CA395669658 | FUS | c.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) | |
16 | g.31184983_31184988del | CA2216944675 | FUS | c.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 |
16 | g.31184984G>A | CA395669659 | FUS | c.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) | |
16 | g.31184984G>C | CA395669661 | FUS | c.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) | |
16 | g.31184984G>T | CA395669662 | FUS | c.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) | |
16 | g.31184985T>A | CA395669664 | FUS | c.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) | |
16 | g.31184985T>C | CA494928660 | FUS | c.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=) | |
16 | g.31184985T>G | CA395669665 | FUS | c.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) | |
16 | g.31184985T= | CA2216944680 | FUS | c.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=) | |
16 | g.31184986G>A | CA280594678 | FUS | c.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 |
16 | g.31184986G>C | CA395669667 | FUS | c.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) | |
16 | g.31184986G= | CA2216944686 | FUS | c.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=) | |
16 | g.31184986G>T | CA395669669 | FUS | c.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) | |
16 | g.31184987dup | CA919689811 | FUS | c.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 |
16 | g.31184987G>A | CA395669674 | FUS | c.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) | |
16 | g.31184987G>C | CA395669672 | FUS | c.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) | |
16 | g.31184987G>T | CA395669671 | FUS | c.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) | |
16 | g.31184988T>A | CA494928664 | FUS | c.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=) | |
16 | g.31184988T>C | CA494928665 | FUS | c.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=) | |
16 | g.31184988T>G | CA494928666 | FUS | c.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 |
16 | g.31184988T= | CA2216944691 | FUS | c.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=) | |
16 | g.31184989G>A | CA395669676 | FUS | c.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) | |
16 | g.31184989G>C | CA395669679 | FUS | c.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) | |
16 | g.31184989G>T | CA395669678 | FUS | c.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) | |
16 | g.31184990G>A | CA395669681 | FUS | c.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 |
16 | g.31184990G>C | CA395669683 | FUS | c.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) | |
16 | g.31184990G>T | CA395669685 | FUS | c.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 |
16 | g.31184991C>A | CA494928671 | FUS | c.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=) | |
16 | g.31184991C= | CA2216944694 | FUS | c.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=) | |
16 | g.31184991C>G | CA494928672 | FUS | c.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 |
16 | g.31184991C>T | CA8023713 | FUS | c.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 |
16 | g.31184992G>A | CA395669688 | FUS | c.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 |
16 | g.31184992G>C | CA395669690 | FUS | c.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) | |
16 | g.31184992G= | CA2216944698 | FUS | c.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=) | |
16 | g.31184992G>T | CA395669691 | FUS | c.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 |
16 | g.31184993G>A | CA395669692 | FUS | c.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) | |
16 | g.31184993G>C | CA395669693 | FUS | c.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) | |
16 | g.31184993G>T | CA395669694 | FUS | c.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) | |
16 | g.31184993_31185036del | CA2695223295 | FUS | c.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?) | |
16 | g.31184994T>A | CA494928679 | FUS | c.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=) | |
16 | g.31184994T>C | CA494928680 | FUS | c.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=) | |
16 | g.31184994T>G | CA494928681 | FUS | c.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 |
16 | g.31184994T= | CA2216944700 | FUS | c.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=) | |
16 | g.31184995T>A | CA395669699 | FUS | c.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) | |
16 | g.31184995T>C | CA395669697 | FUS | c.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) | |
16 | g.31184995T>G | CA395669695 | FUS | c.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) | |
16 | g.31184996A>C | CA395669700 | FUS | c.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) | |
16 | g.31184996A>G | CA395669701 | FUS | c.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) | |
16 | g.31184996A>T | CA395669703 | FUS | c.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) | |
16 | g.31184997T>A | CA395669705 | FUS | c.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) | |
16 | g.31184997T>C | CA8023714 | FUS | c.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 |
16 | g.31184997T>G | CA395669707 | FUS | c.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) | |
16 | g.31184997T= | CA2216944707 | FUS | c.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=) | |
16 | g.31184998G>A | CA395669709 | FUS | c.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 |
16 | g.31184998G>C | CA395669711 | FUS | c.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) | |
16 | g.31184998G= | CA2216944709 | FUS | c.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=) | |
16 | g.31184998G>T | CA395669713 | FUS | c.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) | |
16 | g.31184999G>A | CA395669714 | FUS | c.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) | |
16 | g.31184999G>C | CA395669715 | FUS | c.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) | |
16 | g.31184999G>T | CA395669717 | FUS | c.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) | |
16 | g.31185000C>A | CA494928687 | FUS | c.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=) | |
16 | g.31185000C= | CA2216944712 | FUS | c.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=) | |
16 | g.31185000C>G | CA494928688 | FUS | c.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=) | |
16 | g.31185000C>T | CA494928690 | FUS | c.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 |
16 | g.31185001A>C | CA395669723 | FUS | c.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) | |
16 | g.31185001A>G | CA395669721 | FUS | c.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 |
16 | g.31185001A>T | CA395669720 | FUS | c.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) | |
16 | g.31185002A= | CA2216944716 | FUS | c.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=) | |
16 | g.31185002A>C | CA395669727 | FUS | c.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 |
16 | g.31185002A>G | CA8023715 | FUS | c.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 |
16 | g.31185002A>T | CA395669725 | FUS | c.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) | |
16 | g.31185003T>A | CA395669729 | FUS | c.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) | |
16 | g.31185003T>C | CA494928694 | FUS | c.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=) | |
16 | g.31185003T>G | CA395669731 | FUS | c.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) | |
16 | g.31185004C>A | CA395669732 | FUS | c.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) | |
16 | g.31185004C= | CA2216944722 | FUS | c.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=) | |
16 | g.31185004C>G | CA395669733 | FUS | c.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 |
16 | g.31185004C>T | CA395669735 | FUS | c.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) | |
16 | g.31185005A>C | CA395669737 | FUS | c.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) | |
16 | g.31185005A>G | CA395669738 | FUS | c.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) | |
16 | g.31185005A>T | CA395669740 | FUS | c.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) | |
16 | g.31185006A= | CA2216944725 | FUS | c.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=) | |
16 | g.31185006A>C | CA395669742 | FUS | c.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) | |
16 | g.31185006A>G | CA494928699 | FUS | c.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 |
16 | g.31185006A>T | CA395669744 | FUS | c.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) | |
16 | g.31185007G>A | CA395669752 | FUS | c.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) | |
16 | g.31185007G>C | CA395669750 | FUS | c.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) | |
16 | g.31185007G>T | CA395669748 | FUS | c.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 |
16 | g.31185008A>C | CA395669755 | FUS | c.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) | |
16 | g.31185008A>G | CA395669757 | FUS | c.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) | |
16 | g.31185008A>T | CA395669759 | FUS | c.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) | |
16 | g.31185009C>A | CA395669761 | FUS | c.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) | |
16 | g.31185009C= | CA2216944727 | FUS | c.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=) | |
16 | g.31185009C>G | CA395669762 | FUS | c.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 |
16 | g.31185009C>T | CA494928705 | FUS | c.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 |
16 | g.31185010C>A | CA395669765 | FUS | c.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) | |
16 | g.31185010C= | CA2216944733 | FUS | c.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=) | |
16 | g.31185010C>G | CA395669766 | FUS | c.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 |
16 | g.31185010C>T | CA395669769 | FUS | c.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) | |
16 | g.31185011A>C | CA395669772 | FUS | c.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) | |
16 | g.31185011A>G | CA395669774 | FUS | c.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) | |
16 | g.31185011A>T | CA395669777 | FUS | c.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) | |
16 | g.31185012G>A | CA494928709 | FUS | c.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 |
16 | g.31185012G>C | CA8023716 | FUS | c.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 |
16 | g.31185012G= | CA2216944736 | FUS | c.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=) | |
16 | g.31185012G>T | CA395669779 | FUS | c.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) | |
16 | g.31185013A>C | CA395669784 | FUS | c.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) | |
16 | g.31185013A>G | CA395669786 | FUS | c.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) | |
16 | g.31185013A>T | CA395669781 | FUS | c.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) | |
16 | g.31185013_31185016delinsAGTG | CA2216944739 | FUS | c.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=) | |
16 | g.31185014G>A | CA395669787 | FUS | c.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 |
16 | g.31185014G>C | CA395669789 | FUS | c.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) | |
16 | g.31185014G= | CA2216944742 | FUS | c.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=) | |
16 | g.31185014G>T | CA395669788 | FUS | c.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) | |
16 | g.31185018_31185020del | CA622172601 | FUS | c.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 |
16 | g.31185015T>A | CA395669790 | FUS | c.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) | |
16 | g.31185015T>C | CA494928716 | FUS | c.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 |
16 | g.31185015T>G | CA395669791 | FUS | c.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 |
16 | g.31185016G>A | CA395669793 | FUS | c.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) | |
16 | g.31185016G>C | CA395669794 | FUS | c.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) | |
16 | g.31185016G>T | CA395669795 | FUS | c.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) | |
16 | g.31185016_31185052delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC | CA2216944745 | FUS | c.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=) | |
16 | g.31185017G>A | CA395669798 | FUS | c.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 |
16 | g.31185017G>C | CA395669801 | FUS | c.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) | |
16 | g.31185017G= | CA2216944754 | FUS | c.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=) | |
16 | g.31185017G>T | CA8023717 | FUS | c.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 |
16 | g.31185024_31185059del | CA2216944752 | FUS | c.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 |
16 | g.31185018T>A | CA494928721 | FUS | c.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=) | |
16 | g.31185018T>C | CA494928723 | FUS | c.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=) | |
16 | g.31185018T>G | CA494928722 | FUS | c.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=) | |
16 | g.31185019G>A | CA280594716 | FUS | c.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 |
16 | g.31185019G>C | CA395669806 | FUS | c.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) | |
16 | g.31185019G= | CA2216944762 | FUS | c.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=) | |
16 | g.31185019G>T | CA395669808 | FUS | c.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) | |
16 | g.31185020G>A | CA395669814 | FUS | c.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) | |
16 | g.31185020G>C | CA395669812 | FUS | c.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 |
16 | g.31185020G>T | CA395669811 | FUS | c.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) | |
16 | g.31185021A= | CA2216944768 | FUS | c.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=) | |
16 | g.31185021A>C | CA494928726 | FUS | c.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=) | |
16 | g.31185021A>G | CA494928727 | FUS | c.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=) | |
16 | g.31185021A>T | CA280594719 | FUS | c.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 |
16 | g.31185022G>A | CA395669821 | FUS | c.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) | |
16 | g.31185022G>C | CA395669822 | FUS | c.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) | |
16 | g.31185022G>T | CA395669824 | FUS | c.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) | |
16 | g.31185028_31185036del | CA2580091516 | FUS | c.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 |
16 | g.31185023G>A | CA395669827 | FUS | c.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 |
16 | g.31185023G>C | CA395669828 | FUS | c.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) | |
16 | g.31185023G= | CA2216944771 | FUS | c.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=) | |
16 | g.31185023G>T | CA395669830 | FUS | c.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) | |
16 | g.31185024T>A | CA494928730 | FUS | c.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=) | |
16 | g.31185024T>C | CA494928731 | FUS | c.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=) | |
16 | g.31185024T>G | CA494928732 | FUS | c.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 |
16 | g.31185024T= | CA2216944777 | FUS | c.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=) | |
16 | g.31185025G>A | CA395669832 | FUS | c.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 |
16 | g.31185025G>C | CA395669834 | FUS | c.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) | |
16 | g.31185025G>T | CA395669837 | FUS | c.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) | |
16 | g.31185026G>A | CA395669840 | FUS | c.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 |
16 | g.31185026G>C | CA395669841 | FUS | c.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) | |
16 | g.31185026G= | CA2216944780 | FUS | c.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=) | |
16 | g.31185026G>T | CA395669843 | FUS | c.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 |
16 | g.31185027C>A | CA494928743 | FUS | c.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=) | |
16 | g.31185027C= | CA2216944785 | FUS | c.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=) | |
16 | g.31185027C>G | CA494928739 | FUS | c.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=) | |
16 | g.31185027C>T | CA494928741 | FUS | c.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 |
16 | g.31185028A= | CA2216944787 | FUS | c.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=) | |
16 | g.31185028A>C | CA395669846 | FUS | c.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) | |
16 | g.31185028A>G | CA8023718 | FUS | c.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 |
16 | g.31185028A>T | CA395669845 | FUS | c.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) | |
16 | g.31185029G>A | CA395669850 | FUS | c.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 |
16 | g.31185029G>C | CA395669847 | FUS | c.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 |
16 | g.31185029G>T | CA395669849 | FUS | c.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) |