Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127426126_127426128dup | CA1286883412 | PROC | c.577_579dup (p.Lys193_Arg194insLys) c.121-2231_121-2229dup c.679_681dup (p.Lys227_Arg228insLys) c.520_522dup (p.Lys174_Arg175insLys) n.163_165dup c.760_762dup (p.Lys254_Arg255insLys) c.742_744dup (p.Lys248_Arg249insLys) c.640_642dup (p.Lys214_Arg215insLys) c.820_822dup (p.Lys274_Arg275insLys) c.922_924dup (p.Lys308_Arg309insLys) c.862_864dup (p.Lys288_Arg289insLys) n.4462_4464dup c.745_747dup (p.Lys249_Arg250insLys) c.763_765dup (p.Lys255_Arg256insLys) c.553_555dup (p.Lys185_Arg186insLys) c.571_573dup (p.Lys191_Arg192insLys) | dbSNP |
2 | g.127426126_127426128del | CA1859388 | PROC | c.577_579del (p.Lys193del) c.121-2231_121-2229del c.679_681del (p.Lys227del) c.520_522del (p.Lys174del) n.163_165del c.760_762del (p.Lys254del) c.742_744del (p.Lys248del) c.640_642del (p.Lys214del) c.820_822del (p.Lys274del) c.922_924del (p.Lys308del) c.862_864del (p.Lys288del) n.4462_4464del c.745_747del (p.Lys249del) c.763_765del (p.Lys255del) c.553_555del (p.Lys185del) c.571_573del (p.Lys191del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426128G>A | CA428618232 | PROC | c.579G>A (p.Lys193=) c.121-2229G>A c.681G>A (p.Lys227=) c.522G>A (p.Lys174=) n.165G>A c.762G>A (p.Lys254=) c.744G>A (p.Lys248=) c.642G>A (p.Lys214=) c.822G>A (p.Lys274=) c.924G>A (p.Lys308=) c.864G>A (p.Lys288=) n.4457C>T c.747G>A (p.Lys249=) c.765G>A (p.Lys255=) c.555G>A (p.Lys185=) c.573G>A (p.Lys191=) | dbSNP gnomAD v4 |
2 | g.127426128G>C | CA348401199 | PROC | c.579G>C (p.Lys193Asn) c.121-2229G>C c.681G>C (p.Lys227Asn) c.522G>C (p.Lys174Asn) n.165G>C c.762G>C (p.Lys254Asn) c.744G>C (p.Lys248Asn) c.642G>C (p.Lys214Asn) c.822G>C (p.Lys274Asn) c.924G>C (p.Lys308Asn) c.864G>C (p.Lys288Asn) n.4457C>G c.747G>C (p.Lys249Asn) c.765G>C (p.Lys255Asn) c.555G>C (p.Lys185Asn) c.573G>C (p.Lys191Asn) | |
2 | g.127426128G= | CA1286883415 | PROC | c.579G= (p.Lys193=) c.121-2229G= c.681G= (p.Lys227=) c.522G= (p.Lys174=) n.165G= c.762G= (p.Lys254=) c.744G= (p.Lys248=) c.642G= (p.Lys214=) c.822G= (p.Lys274=) c.924G= (p.Lys308=) c.864G= (p.Lys288=) n.4457C= c.747G= (p.Lys249=) c.765G= (p.Lys255=) c.555G= (p.Lys185=) c.573G= (p.Lys191=) | |
2 | g.127426128G>T | CA348401201 | PROC | c.579G>T (p.Lys193Asn) c.121-2229G>T c.681G>T (p.Lys227Asn) c.522G>T (p.Lys174Asn) n.165G>T c.762G>T (p.Lys254Asn) c.744G>T (p.Lys248Asn) c.642G>T (p.Lys214Asn) c.822G>T (p.Lys274Asn) c.924G>T (p.Lys308Asn) c.864G>T (p.Lys288Asn) n.4457C>A c.747G>T (p.Lys249Asn) c.765G>T (p.Lys255Asn) c.555G>T (p.Lys185Asn) c.573G>T (p.Lys191Asn) | |
2 | g.127426129C>A | CA348401204 | PROC | c.580C>A (p.Arg194Ser) c.121-2228C>A c.682C>A (p.Arg228Ser) c.523C>A (p.Arg175Ser) n.166C>A c.763C>A (p.Arg255Ser) c.745C>A (p.Arg249Ser) c.643C>A (p.Arg215Ser) c.823C>A (p.Arg275Ser) c.925C>A (p.Arg309Ser) c.865C>A (p.Arg289Ser) n.4456G>T c.748C>A (p.Arg250Ser) c.766C>A (p.Arg256Ser) c.556C>A (p.Arg186Ser) c.574C>A (p.Arg192Ser) | |
2 | g.127426129C= | CA1286883416 | PROC | c.580C= (p.Arg194=) c.121-2228C= c.682C= (p.Arg228=) c.523C= (p.Arg175=) n.166C= c.763C= (p.Arg255=) c.745C= (p.Arg249=) c.643C= (p.Arg215=) c.823C= (p.Arg275=) c.925C= (p.Arg309=) c.865C= (p.Arg289=) n.4456G= c.748C= (p.Arg250=) c.766C= (p.Arg256=) c.556C= (p.Arg186=) c.574C= (p.Arg192=) | |
2 | g.127426129C>G | CA348401207 | PROC | c.580C>G (p.Arg194Gly) c.121-2228C>G c.682C>G (p.Arg228Gly) c.523C>G (p.Arg175Gly) n.166C>G c.763C>G (p.Arg255Gly) c.745C>G (p.Arg249Gly) c.643C>G (p.Arg215Gly) c.823C>G (p.Arg275Gly) c.925C>G (p.Arg309Gly) c.865C>G (p.Arg289Gly) n.4456G>C c.748C>G (p.Arg250Gly) c.766C>G (p.Arg256Gly) c.556C>G (p.Arg186Gly) c.574C>G (p.Arg192Gly) | |
2 | g.127426129C>T | CA211724 | PROC | c.580C>T (p.Arg194Cys) c.121-2228C>T c.682C>T (p.Arg228Cys) c.523C>T (p.Arg175Cys) n.166C>T c.763C>T (p.Arg255Cys) c.745C>T (p.Arg249Cys) c.643C>T (p.Arg215Cys) c.823C>T (p.Arg275Cys) c.925C>T (p.Arg309Cys) c.865C>T (p.Arg289Cys) n.4456G>A c.748C>T (p.Arg250Cys) c.766C>T (p.Arg256Cys) c.556C>T (p.Arg186Cys) c.574C>T (p.Arg192Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426130G>A | CA1859391 | PROC | c.581G>A (p.Arg194His) c.121-2227G>A c.683G>A (p.Arg228His) c.524G>A (p.Arg175His) n.167G>A c.764G>A (p.Arg255His) c.746G>A (p.Arg249His) c.644G>A (p.Arg215His) c.824G>A (p.Arg275His) c.926G>A (p.Arg309His) c.866G>A (p.Arg289His) n.4455C>T c.749G>A (p.Arg250His) c.767G>A (p.Arg256His) c.557G>A (p.Arg186His) c.575G>A (p.Arg192His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127426130G>C | CA348401210 | PROC | c.581G>C (p.Arg194Pro) c.121-2227G>C c.683G>C (p.Arg228Pro) c.524G>C (p.Arg175Pro) n.167G>C c.764G>C (p.Arg255Pro) c.746G>C (p.Arg249Pro) c.644G>C (p.Arg215Pro) c.824G>C (p.Arg275Pro) c.926G>C (p.Arg309Pro) c.866G>C (p.Arg289Pro) n.4455C>G c.749G>C (p.Arg250Pro) c.767G>C (p.Arg256Pro) c.557G>C (p.Arg186Pro) c.575G>C (p.Arg192Pro) | |
2 | g.127426130G= | CA1286883417 | PROC | c.581G= (p.Arg194=) c.121-2227G= c.683G= (p.Arg228=) c.524G= (p.Arg175=) n.167G= c.764G= (p.Arg255=) c.746G= (p.Arg249=) c.644G= (p.Arg215=) c.824G= (p.Arg275=) c.926G= (p.Arg309=) c.866G= (p.Arg289=) n.4455C= c.749G= (p.Arg250=) c.767G= (p.Arg256=) c.557G= (p.Arg186=) c.575G= (p.Arg192=) | |
2 | g.127426130G>T | CA55348271 | PROC | c.581G>T (p.Arg194Leu) c.121-2227G>T c.683G>T (p.Arg228Leu) c.524G>T (p.Arg175Leu) n.167G>T c.764G>T (p.Arg255Leu) c.746G>T (p.Arg249Leu) c.644G>T (p.Arg215Leu) c.824G>T (p.Arg275Leu) c.926G>T (p.Arg309Leu) c.866G>T (p.Arg289Leu) n.4455C>A c.749G>T (p.Arg250Leu) c.767G>T (p.Arg256Leu) c.557G>T (p.Arg186Leu) c.575G>T (p.Arg192Leu) | dbSNP |
2 | g.127426131C>A | CA428618234 | PROC | c.582C>A (p.Arg194=) c.121-2226C>A c.684C>A (p.Arg228=) c.525C>A (p.Arg175=) n.168C>A c.765C>A (p.Arg255=) c.747C>A (p.Arg249=) c.645C>A (p.Arg215=) c.825C>A (p.Arg275=) c.927C>A (p.Arg309=) c.867C>A (p.Arg289=) n.4454G>T c.750C>A (p.Arg250=) c.768C>A (p.Arg256=) c.558C>A (p.Arg186=) c.576C>A (p.Arg192=) | |
2 | g.127426131C= | CA1286883418 | PROC | c.582C= (p.Arg194=) c.121-2226C= c.684C= (p.Arg228=) c.525C= (p.Arg175=) n.168C= c.765C= (p.Arg255=) c.747C= (p.Arg249=) c.645C= (p.Arg215=) c.825C= (p.Arg275=) c.927C= (p.Arg309=) c.867C= (p.Arg289=) n.4454G= c.750C= (p.Arg250=) c.768C= (p.Arg256=) c.558C= (p.Arg186=) c.576C= (p.Arg192=) | |
2 | g.127426131C>G | CA428618236 | PROC | c.582C>G (p.Arg194=) c.121-2226C>G c.684C>G (p.Arg228=) c.525C>G (p.Arg175=) n.168C>G c.765C>G (p.Arg255=) c.747C>G (p.Arg249=) c.645C>G (p.Arg215=) c.825C>G (p.Arg275=) c.927C>G (p.Arg309=) c.867C>G (p.Arg289=) n.4454G>C c.750C>G (p.Arg250=) c.768C>G (p.Arg256=) c.558C>G (p.Arg186=) c.576C>G (p.Arg192=) | |
2 | g.127426131C>T | CA428618235 | PROC | c.582C>T (p.Arg194=) c.121-2226C>T c.684C>T (p.Arg228=) c.525C>T (p.Arg175=) n.168C>T c.765C>T (p.Arg255=) c.747C>T (p.Arg249=) c.645C>T (p.Arg215=) c.825C>T (p.Arg275=) c.927C>T (p.Arg309=) c.867C>T (p.Arg289=) n.4454G>A c.750C>T (p.Arg250=) c.768C>T (p.Arg256=) c.558C>T (p.Arg186=) c.576C>T (p.Arg192=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426132A= | CA1286883419 | PROC | c.583A= (p.Ser195=) c.121-2225A= c.685A= (p.Ser229=) n.169A= c.766A= (p.Ser256=) c.748A= (p.Ser250=) c.646A= (p.Ser216=) c.826A= (p.Ser276=) c.928A= (p.Ser310=) c.868A= (p.Ser290=) n.4453T= c.751A= (p.Ser251=) c.769A= (p.Ser257=) c.526A= (p.Ser176=) c.559A= (p.Ser187=) c.577A= (p.Ser193=) | |
2 | g.127426132A>C | CA348401219 | PROC | c.583A>C (p.Ser195Arg) c.121-2225A>C c.685A>C (p.Ser229Arg) n.169A>C c.766A>C (p.Ser256Arg) c.748A>C (p.Ser250Arg) c.646A>C (p.Ser216Arg) c.826A>C (p.Ser276Arg) c.928A>C (p.Ser310Arg) c.868A>C (p.Ser290Arg) n.4453T>G c.751A>C (p.Ser251Arg) c.769A>C (p.Ser257Arg) c.526A>C (p.Ser176Arg) c.559A>C (p.Ser187Arg) c.577A>C (p.Ser193Arg) | |
2 | g.127426132A>G | CA348401215 | PROC | c.583A>G (p.Ser195Gly) c.121-2225A>G c.685A>G (p.Ser229Gly) n.169A>G c.766A>G (p.Ser256Gly) c.748A>G (p.Ser250Gly) c.646A>G (p.Ser216Gly) c.826A>G (p.Ser276Gly) c.928A>G (p.Ser310Gly) c.868A>G (p.Ser290Gly) n.4453T>C c.751A>G (p.Ser251Gly) c.769A>G (p.Ser257Gly) c.526A>G (p.Ser176Gly) c.559A>G (p.Ser187Gly) c.577A>G (p.Ser193Gly) | dbSNP gnomAD v4 |
2 | g.127426132A>T | CA348401218 | PROC | c.583A>T (p.Ser195Cys) c.121-2225A>T c.685A>T (p.Ser229Cys) n.169A>T c.766A>T (p.Ser256Cys) c.748A>T (p.Ser250Cys) c.646A>T (p.Ser216Cys) c.826A>T (p.Ser276Cys) c.928A>T (p.Ser310Cys) c.868A>T (p.Ser290Cys) n.4453T>A c.751A>T (p.Ser251Cys) c.769A>T (p.Ser257Cys) c.526A>T (p.Ser176Cys) c.559A>T (p.Ser187Cys) c.577A>T (p.Ser193Cys) | |
2 | g.127426133G>A | CA348401220 | PROC | c.584G>A (p.Ser195Asn) c.121-2224G>A c.686G>A (p.Ser229Asn) n.170G>A c.767G>A (p.Ser256Asn) c.749G>A (p.Ser250Asn) c.647G>A (p.Ser216Asn) c.827G>A (p.Ser276Asn) c.929G>A (p.Ser310Asn) c.869G>A (p.Ser290Asn) n.4452C>T c.752G>A (p.Ser251Asn) c.770G>A (p.Ser257Asn) c.527G>A (p.Ser176Asn) c.560G>A (p.Ser187Asn) c.578G>A (p.Ser193Asn) | |
2 | g.127426133G>C | CA348401222 | PROC | c.584G>C (p.Ser195Thr) c.121-2224G>C c.686G>C (p.Ser229Thr) n.170G>C c.767G>C (p.Ser256Thr) c.749G>C (p.Ser250Thr) c.647G>C (p.Ser216Thr) c.827G>C (p.Ser276Thr) c.929G>C (p.Ser310Thr) c.869G>C (p.Ser290Thr) n.4452C>G c.752G>C (p.Ser251Thr) c.770G>C (p.Ser257Thr) c.527G>C (p.Ser176Thr) c.560G>C (p.Ser187Thr) c.578G>C (p.Ser193Thr) | |
2 | g.127426133G>T | CA348401225 | PROC | c.584G>T (p.Ser195Ile) c.121-2224G>T c.686G>T (p.Ser229Ile) n.170G>T c.767G>T (p.Ser256Ile) c.749G>T (p.Ser250Ile) c.647G>T (p.Ser216Ile) c.827G>T (p.Ser276Ile) c.929G>T (p.Ser310Ile) c.869G>T (p.Ser290Ile) n.4452C>A c.752G>T (p.Ser251Ile) c.770G>T (p.Ser257Ile) c.527G>T (p.Ser176Ile) c.560G>T (p.Ser187Ile) c.578G>T (p.Ser193Ile) | |
2 | g.127426134T>A | CA348401227 | PROC | c.585T>A (p.Ser195Arg) c.121-2223T>A c.687T>A (p.Ser229Arg) n.171T>A c.768T>A (p.Ser256Arg) c.750T>A (p.Ser250Arg) c.648T>A (p.Ser216Arg) c.828T>A (p.Ser276Arg) c.930T>A (p.Ser310Arg) c.870T>A (p.Ser290Arg) n.4451A>T c.753T>A (p.Ser251Arg) c.771T>A (p.Ser257Arg) c.528T>A (p.Ser176Arg) c.561T>A (p.Ser187Arg) c.579T>A (p.Ser193Arg) | |
2 | g.127426134T>C | CA428618240 | PROC | c.585T>C (p.Ser195=) c.121-2223T>C c.687T>C (p.Ser229=) n.171T>C c.768T>C (p.Ser256=) c.750T>C (p.Ser250=) c.648T>C (p.Ser216=) c.828T>C (p.Ser276=) c.930T>C (p.Ser310=) c.870T>C (p.Ser290=) n.4451A>G c.753T>C (p.Ser251=) c.771T>C (p.Ser257=) c.528T>C (p.Ser176=) c.561T>C (p.Ser187=) c.579T>C (p.Ser193=) | |
2 | g.127426134T>G | CA348401229 | PROC | c.585T>G (p.Ser195Arg) c.121-2223T>G c.687T>G (p.Ser229Arg) n.171T>G c.768T>G (p.Ser256Arg) c.750T>G (p.Ser250Arg) c.648T>G (p.Ser216Arg) c.828T>G (p.Ser276Arg) c.930T>G (p.Ser310Arg) c.870T>G (p.Ser290Arg) n.4451A>C c.753T>G (p.Ser251Arg) c.771T>G (p.Ser257Arg) c.528T>G (p.Ser176Arg) c.561T>G (p.Ser187Arg) c.579T>G (p.Ser193Arg) | |
2 | g.127426135C>A | CA348401231 | PROC | c.586C>A (p.His196Asn) c.121-2222C>A c.688C>A (p.His230Asn) n.172C>A c.769C>A (p.His257Asn) c.751C>A (p.His251Asn) c.649C>A (p.His217Asn) c.829C>A (p.His277Asn) c.931C>A (p.His311Asn) c.871C>A (p.His291Asn) n.4450G>T c.754C>A (p.His252Asn) c.772C>A (p.His258Asn) c.529C>A (p.His177Asn) c.562C>A (p.His188Asn) c.580C>A (p.His194Asn) | |
2 | g.127426135C>G | CA348401233 | PROC | c.586C>G (p.His196Asp) c.121-2222C>G c.688C>G (p.His230Asp) n.172C>G c.769C>G (p.His257Asp) c.751C>G (p.His251Asp) c.649C>G (p.His217Asp) c.829C>G (p.His277Asp) c.931C>G (p.His311Asp) c.871C>G (p.His291Asp) n.4450G>C c.754C>G (p.His252Asp) c.772C>G (p.His258Asp) c.529C>G (p.His177Asp) c.562C>G (p.His188Asp) c.580C>G (p.His194Asp) | |
2 | g.127426135C>T | CA348401235 | PROC | c.586C>T (p.His196Tyr) c.121-2222C>T c.688C>T (p.His230Tyr) n.172C>T c.769C>T (p.His257Tyr) c.751C>T (p.His251Tyr) c.649C>T (p.His217Tyr) c.829C>T (p.His277Tyr) c.931C>T (p.His311Tyr) c.871C>T (p.His291Tyr) n.4450G>A c.754C>T (p.His252Tyr) c.772C>T (p.His258Tyr) c.529C>T (p.His177Tyr) c.562C>T (p.His188Tyr) c.580C>T (p.His194Tyr) | |
2 | g.127426136A>C | CA348401238 | PROC | c.587A>C (p.His196Pro) c.121-2221A>C c.689A>C (p.His230Pro) n.173A>C c.770A>C (p.His257Pro) c.752A>C (p.His251Pro) c.650A>C (p.His217Pro) c.830A>C (p.His277Pro) c.932A>C (p.His311Pro) c.872A>C (p.His291Pro) n.4449T>G c.755A>C (p.His252Pro) c.773A>C (p.His258Pro) c.530A>C (p.His177Pro) c.563A>C (p.His188Pro) c.581A>C (p.His194Pro) | |
2 | g.127426136A>G | CA348401240 | PROC | c.587A>G (p.His196Arg) c.121-2221A>G c.689A>G (p.His230Arg) n.173A>G c.770A>G (p.His257Arg) c.752A>G (p.His251Arg) c.650A>G (p.His217Arg) c.830A>G (p.His277Arg) c.932A>G (p.His311Arg) c.872A>G (p.His291Arg) n.4449T>C c.755A>G (p.His252Arg) c.773A>G (p.His258Arg) c.530A>G (p.His177Arg) c.563A>G (p.His188Arg) c.581A>G (p.His194Arg) | |
2 | g.127426136A>T | CA348401242 | PROC | c.587A>T (p.His196Leu) c.121-2221A>T c.689A>T (p.His230Leu) n.173A>T c.770A>T (p.His257Leu) c.752A>T (p.His251Leu) c.650A>T (p.His217Leu) c.830A>T (p.His277Leu) c.932A>T (p.His311Leu) c.872A>T (p.His291Leu) n.4449T>A c.755A>T (p.His252Leu) c.773A>T (p.His258Leu) c.530A>T (p.His177Leu) c.563A>T (p.His188Leu) c.581A>T (p.His194Leu) | |
2 | g.127426137C>A | CA348401246 | PROC | c.588C>A (p.His196Gln) c.121-2220C>A c.690C>A (p.His230Gln) n.174C>A c.771C>A (p.His257Gln) c.753C>A (p.His251Gln) c.651C>A (p.His217Gln) c.831C>A (p.His277Gln) c.933C>A (p.His311Gln) c.873C>A (p.His291Gln) n.4448G>T c.756C>A (p.His252Gln) c.774C>A (p.His258Gln) c.531C>A (p.His177Gln) c.564C>A (p.His188Gln) c.582C>A (p.His194Gln) | gnomAD v4 |
2 | g.127426137C= | CA1286883420 | PROC | c.588C= (p.His196=) c.121-2220C= c.690C= (p.His230=) n.174C= c.771C= (p.His257=) c.753C= (p.His251=) c.651C= (p.His217=) c.831C= (p.His277=) c.933C= (p.His311=) c.873C= (p.His291=) n.4448G= c.756C= (p.His252=) c.774C= (p.His258=) c.531C= (p.His177=) c.564C= (p.His188=) c.582C= (p.His194=) | |
2 | g.127426137C>G | CA348401249 | PROC | c.588C>G (p.His196Gln) c.121-2220C>G c.690C>G (p.His230Gln) n.174C>G c.771C>G (p.His257Gln) c.753C>G (p.His251Gln) c.651C>G (p.His217Gln) c.831C>G (p.His277Gln) c.933C>G (p.His311Gln) c.873C>G (p.His291Gln) n.4448G>C c.756C>G (p.His252Gln) c.774C>G (p.His258Gln) c.531C>G (p.His177Gln) c.564C>G (p.His188Gln) c.582C>G (p.His194Gln) | |
2 | g.127426137C>T | CA1859392 | PROC | c.588C>T (p.His196=) c.121-2220C>T c.690C>T (p.His230=) n.174C>T c.771C>T (p.His257=) c.753C>T (p.His251=) c.651C>T (p.His217=) c.831C>T (p.His277=) c.933C>T (p.His311=) c.873C>T (p.His291=) n.4448G>A c.756C>T (p.His252=) c.774C>T (p.His258=) c.531C>T (p.His177=) c.564C>T (p.His188=) c.582C>T (p.His194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426138C>A | CA348401252 | PROC | c.589C>A (p.Leu197Met) c.121-2219C>A c.691C>A (p.Leu231Met) n.175C>A c.772C>A (p.Leu258Met) c.754C>A (p.Leu252Met) c.652C>A (p.Leu218Met) c.832C>A (p.Leu278Met) c.934C>A (p.Leu312Met) c.874C>A (p.Leu292Met) n.4447G>T c.757C>A (p.Leu253Met) c.775C>A (p.Leu259Met) c.532C>A (p.Leu178Met) c.565C>A (p.Leu189Met) c.583C>A (p.Leu195Met) | |
2 | g.127426138C= | CA1286883421 | PROC | c.589C= (p.Leu197=) c.121-2219C= c.691C= (p.Leu231=) n.175C= c.772C= (p.Leu258=) c.754C= (p.Leu252=) c.652C= (p.Leu218=) c.832C= (p.Leu278=) c.934C= (p.Leu312=) c.874C= (p.Leu292=) n.4447G= c.757C= (p.Leu253=) c.775C= (p.Leu259=) c.532C= (p.Leu178=) c.565C= (p.Leu189=) c.583C= (p.Leu195=) | |
2 | g.127426138C>G | CA348401254 | PROC | c.589C>G (p.Leu197Val) c.121-2219C>G c.691C>G (p.Leu231Val) n.175C>G c.772C>G (p.Leu258Val) c.754C>G (p.Leu252Val) c.652C>G (p.Leu218Val) c.832C>G (p.Leu278Val) c.934C>G (p.Leu312Val) c.874C>G (p.Leu292Val) n.4447G>C c.757C>G (p.Leu253Val) c.775C>G (p.Leu259Val) c.532C>G (p.Leu178Val) c.565C>G (p.Leu189Val) c.583C>G (p.Leu195Val) | |
2 | g.127426138C>T | CA1859393 | PROC | c.589C>T (p.Leu197=) c.121-2219C>T c.691C>T (p.Leu231=) n.175C>T c.772C>T (p.Leu258=) c.754C>T (p.Leu252=) c.652C>T (p.Leu218=) c.832C>T (p.Leu278=) c.934C>T (p.Leu312=) c.874C>T (p.Leu292=) n.4447G>A c.757C>T (p.Leu253=) c.775C>T (p.Leu259=) c.532C>T (p.Leu178=) c.565C>T (p.Leu189=) c.583C>T (p.Leu195=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426139T>A | CA348401261 | PROC | c.590T>A (p.Leu197Gln) c.121-2218T>A c.692T>A (p.Leu231Gln) n.176T>A c.773T>A (p.Leu258Gln) c.755T>A (p.Leu252Gln) c.653T>A (p.Leu218Gln) c.833T>A (p.Leu278Gln) c.935T>A (p.Leu312Gln) c.875T>A (p.Leu292Gln) n.4446A>T c.758T>A (p.Leu253Gln) c.776T>A (p.Leu259Gln) c.533T>A (p.Leu178Gln) c.566T>A (p.Leu189Gln) c.584T>A (p.Leu195Gln) | |
2 | g.127426139T>C | CA1859394 | PROC | c.590T>C (p.Leu197Pro) c.121-2218T>C c.692T>C (p.Leu231Pro) n.176T>C c.773T>C (p.Leu258Pro) c.755T>C (p.Leu252Pro) c.653T>C (p.Leu218Pro) c.833T>C (p.Leu278Pro) c.935T>C (p.Leu312Pro) c.875T>C (p.Leu292Pro) n.4446A>G c.758T>C (p.Leu253Pro) c.776T>C (p.Leu259Pro) c.533T>C (p.Leu178Pro) c.566T>C (p.Leu189Pro) c.584T>C (p.Leu195Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426139T>G | CA348401275 | PROC | c.590T>G (p.Leu197Arg) c.121-2218T>G c.692T>G (p.Leu231Arg) n.176T>G c.773T>G (p.Leu258Arg) c.755T>G (p.Leu252Arg) c.653T>G (p.Leu218Arg) c.833T>G (p.Leu278Arg) c.935T>G (p.Leu312Arg) c.875T>G (p.Leu292Arg) n.4446A>C c.758T>G (p.Leu253Arg) c.776T>G (p.Leu259Arg) c.533T>G (p.Leu178Arg) c.566T>G (p.Leu189Arg) c.584T>G (p.Leu195Arg) | |
2 | g.127426139T= | CA1286883422 | PROC | c.590T= (p.Leu197=) c.121-2218T= c.692T= (p.Leu231=) n.176T= c.773T= (p.Leu258=) c.755T= (p.Leu252=) c.653T= (p.Leu218=) c.833T= (p.Leu278=) c.935T= (p.Leu312=) c.875T= (p.Leu292=) n.4446A= c.758T= (p.Leu253=) c.776T= (p.Leu259=) c.533T= (p.Leu178=) c.566T= (p.Leu189=) c.584T= (p.Leu195=) | |
2 | g.127426140G>A | CA428618245 | PROC | c.591G>A (p.Leu197=) c.121-2217G>A c.693G>A (p.Leu231=) n.177G>A c.774G>A (p.Leu258=) c.756G>A (p.Leu252=) c.654G>A (p.Leu218=) c.834G>A (p.Leu278=) c.936G>A (p.Leu312=) c.876G>A (p.Leu292=) n.4445C>T c.759G>A (p.Leu253=) c.777G>A (p.Leu259=) c.534G>A (p.Leu178=) c.567G>A (p.Leu189=) c.585G>A (p.Leu195=) | |
2 | g.127426140G>C | CA428618246 | PROC | c.591G>C (p.Leu197=) c.121-2217G>C c.693G>C (p.Leu231=) n.177G>C c.774G>C (p.Leu258=) c.756G>C (p.Leu252=) c.654G>C (p.Leu218=) c.834G>C (p.Leu278=) c.936G>C (p.Leu312=) c.876G>C (p.Leu292=) n.4445C>G c.759G>C (p.Leu253=) c.777G>C (p.Leu259=) c.534G>C (p.Leu178=) c.567G>C (p.Leu189=) c.585G>C (p.Leu195=) | |
2 | g.127426140G>T | CA428618247 | PROC | c.591G>T (p.Leu197=) c.121-2217G>T c.693G>T (p.Leu231=) n.177G>T c.774G>T (p.Leu258=) c.756G>T (p.Leu252=) c.654G>T (p.Leu218=) c.834G>T (p.Leu278=) c.936G>T (p.Leu312=) c.876G>T (p.Leu292=) n.4445C>A c.759G>T (p.Leu253=) c.777G>T (p.Leu259=) c.534G>T (p.Leu178=) c.567G>T (p.Leu189=) c.585G>T (p.Leu195=) | |
2 | g.127426141A= | CA1286883423 | PROC | c.592A= (p.Lys198=) c.121-2216A= c.694A= (p.Lys232=) n.178A= c.775A= (p.Lys259=) c.757A= (p.Lys253=) c.655A= (p.Lys219=) c.835A= (p.Lys279=) c.937A= (p.Lys313=) c.877A= (p.Lys293=) n.4444T= c.760A= (p.Lys254=) c.778A= (p.Lys260=) c.535A= (p.Lys179=) c.568A= (p.Lys190=) c.586A= (p.Lys196=) | |
2 | g.127426141A>C | CA1859395 | PROC | c.592A>C (p.Lys198Gln) c.121-2216A>C c.694A>C (p.Lys232Gln) n.178A>C c.775A>C (p.Lys259Gln) c.757A>C (p.Lys253Gln) c.655A>C (p.Lys219Gln) c.835A>C (p.Lys279Gln) c.937A>C (p.Lys313Gln) c.877A>C (p.Lys293Gln) n.4444T>G c.760A>C (p.Lys254Gln) c.778A>C (p.Lys260Gln) c.535A>C (p.Lys179Gln) c.568A>C (p.Lys190Gln) c.586A>C (p.Lys196Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426141A>G | CA348401277 | PROC | c.592A>G (p.Lys198Glu) c.121-2216A>G c.694A>G (p.Lys232Glu) n.178A>G c.775A>G (p.Lys259Glu) c.757A>G (p.Lys253Glu) c.655A>G (p.Lys219Glu) c.835A>G (p.Lys279Glu) c.937A>G (p.Lys313Glu) c.877A>G (p.Lys293Glu) n.4444T>C c.760A>G (p.Lys254Glu) c.778A>G (p.Lys260Glu) c.535A>G (p.Lys179Glu) c.568A>G (p.Lys190Glu) c.586A>G (p.Lys196Glu) | |
2 | g.127426141A>T | CA348401278 | PROC | c.592A>T (p.Lys198Ter) c.121-2216A>T c.694A>T (p.Lys232Ter) n.178A>T c.775A>T (p.Lys259Ter) c.757A>T (p.Lys253Ter) c.655A>T (p.Lys219Ter) c.835A>T (p.Lys279Ter) c.937A>T (p.Lys313Ter) c.877A>T (p.Lys293Ter) n.4444T>A c.760A>T (p.Lys254Ter) c.778A>T (p.Lys260Ter) c.535A>T (p.Lys179Ter) c.568A>T (p.Lys190Ter) c.586A>T (p.Lys196Ter) | |
2 | g.127426142A>C | CA348401280 | PROC | c.593A>C (p.Lys198Thr) c.121-2215A>C c.695A>C (p.Lys232Thr) n.179A>C c.776A>C (p.Lys259Thr) c.758A>C (p.Lys253Thr) c.656A>C (p.Lys219Thr) c.836A>C (p.Lys279Thr) c.938A>C (p.Lys313Thr) c.878A>C (p.Lys293Thr) n.4443T>G c.761A>C (p.Lys254Thr) c.779A>C (p.Lys260Thr) c.536A>C (p.Lys179Thr) c.569A>C (p.Lys190Thr) c.587A>C (p.Lys196Thr) | |
2 | g.127426142A>G | CA348401282 | PROC | c.593A>G (p.Lys198Arg) c.121-2215A>G c.695A>G (p.Lys232Arg) n.179A>G c.776A>G (p.Lys259Arg) c.758A>G (p.Lys253Arg) c.656A>G (p.Lys219Arg) c.836A>G (p.Lys279Arg) c.938A>G (p.Lys313Arg) c.878A>G (p.Lys293Arg) n.4443T>C c.761A>G (p.Lys254Arg) c.779A>G (p.Lys260Arg) c.536A>G (p.Lys179Arg) c.569A>G (p.Lys190Arg) c.587A>G (p.Lys196Arg) | |
2 | g.127426142A>T | CA348401285 | PROC | c.593A>T (p.Lys198Ile) c.121-2215A>T c.695A>T (p.Lys232Ile) n.179A>T c.776A>T (p.Lys259Ile) c.758A>T (p.Lys253Ile) c.656A>T (p.Lys219Ile) c.836A>T (p.Lys279Ile) c.938A>T (p.Lys313Ile) c.878A>T (p.Lys293Ile) n.4443T>A c.761A>T (p.Lys254Ile) c.779A>T (p.Lys260Ile) c.536A>T (p.Lys179Ile) c.569A>T (p.Lys190Ile) c.587A>T (p.Lys196Ile) | |
2 | g.127426143A>C | CA348401287 | PROC | c.594A>C (p.Lys198Asn) c.121-2214A>C c.696A>C (p.Lys232Asn) n.180A>C c.777A>C (p.Lys259Asn) c.759A>C (p.Lys253Asn) c.657A>C (p.Lys219Asn) c.837A>C (p.Lys279Asn) c.939A>C (p.Lys313Asn) c.879A>C (p.Lys293Asn) n.4442T>G c.762A>C (p.Lys254Asn) c.780A>C (p.Lys260Asn) c.537A>C (p.Lys179Asn) c.570A>C (p.Lys190Asn) c.588A>C (p.Lys196Asn) | |
2 | g.127426143A>G | CA428618255 | PROC | c.594A>G (p.Lys198=) c.121-2214A>G c.696A>G (p.Lys232=) n.180A>G c.777A>G (p.Lys259=) c.759A>G (p.Lys253=) c.657A>G (p.Lys219=) c.837A>G (p.Lys279=) c.939A>G (p.Lys313=) c.879A>G (p.Lys293=) n.4442T>C c.762A>G (p.Lys254=) c.780A>G (p.Lys260=) c.537A>G (p.Lys179=) c.570A>G (p.Lys190=) c.588A>G (p.Lys196=) | |
2 | g.127426143A>T | CA348401292 | PROC | c.594A>T (p.Lys198Asn) c.121-2214A>T c.696A>T (p.Lys232Asn) n.180A>T c.777A>T (p.Lys259Asn) c.759A>T (p.Lys253Asn) c.657A>T (p.Lys219Asn) c.837A>T (p.Lys279Asn) c.939A>T (p.Lys313Asn) c.879A>T (p.Lys293Asn) n.4442T>A c.762A>T (p.Lys254Asn) c.780A>T (p.Lys260Asn) c.537A>T (p.Lys179Asn) c.570A>T (p.Lys190Asn) c.588A>T (p.Lys196Asn) | |
2 | g.127426144C>A | CA428618257 | PROC | c.595C>A (p.Arg199=) c.121-2213C>A c.697C>A (p.Arg233=) n.181C>A c.778C>A (p.Arg260=) c.760C>A (p.Arg254=) c.658C>A (p.Arg220=) c.838C>A (p.Arg280=) c.940C>A (p.Arg314=) c.880C>A (p.Arg294=) n.4441G>T c.763C>A (p.Arg255=) c.781C>A (p.Arg261=) c.538C>A (p.Arg180=) c.571C>A (p.Arg191=) c.589C>A (p.Arg197=) | |
2 | g.127426144C= | CA1286883424 | PROC | c.595C= (p.Arg199=) c.121-2213C= c.697C= (p.Arg233=) n.181C= c.778C= (p.Arg260=) c.760C= (p.Arg254=) c.658C= (p.Arg220=) c.838C= (p.Arg280=) c.940C= (p.Arg314=) c.880C= (p.Arg294=) n.4441G= c.763C= (p.Arg255=) c.781C= (p.Arg261=) c.538C= (p.Arg180=) c.571C= (p.Arg191=) c.589C= (p.Arg197=) | |
2 | g.127426144C>G | CA348401298 | PROC | c.595C>G (p.Arg199Gly) c.121-2213C>G c.697C>G (p.Arg233Gly) n.181C>G c.778C>G (p.Arg260Gly) c.760C>G (p.Arg254Gly) c.658C>G (p.Arg220Gly) c.838C>G (p.Arg280Gly) c.940C>G (p.Arg314Gly) c.880C>G (p.Arg294Gly) n.4441G>C c.763C>G (p.Arg255Gly) c.781C>G (p.Arg261Gly) c.538C>G (p.Arg180Gly) c.571C>G (p.Arg191Gly) c.589C>G (p.Arg197Gly) | |
2 | g.127426144C>T | CA348401296 | PROC | c.595C>T (p.Arg199Ter) c.121-2213C>T c.697C>T (p.Arg233Ter) n.181C>T c.778C>T (p.Arg260Ter) c.760C>T (p.Arg254Ter) c.658C>T (p.Arg220Ter) c.838C>T (p.Arg280Ter) c.940C>T (p.Arg314Ter) c.880C>T (p.Arg294Ter) n.4441G>A c.763C>T (p.Arg255Ter) c.781C>T (p.Arg261Ter) c.538C>T (p.Arg180Ter) c.571C>T (p.Arg191Ter) c.589C>T (p.Arg197Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127426145G>A | CA1859396 | PROC | c.596G>A (p.Arg199Gln) c.121-2212G>A c.698G>A (p.Arg233Gln) n.182G>A c.779G>A (p.Arg260Gln) c.761G>A (p.Arg254Gln) c.659G>A (p.Arg220Gln) c.839G>A (p.Arg280Gln) c.941G>A (p.Arg314Gln) c.881G>A (p.Arg294Gln) n.4440C>T c.764G>A (p.Arg255Gln) c.782G>A (p.Arg261Gln) c.539G>A (p.Arg180Gln) c.572G>A (p.Arg191Gln) c.590G>A (p.Arg197Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426145G>C | CA348401301 | PROC | c.596G>C (p.Arg199Pro) c.121-2212G>C c.698G>C (p.Arg233Pro) n.182G>C c.779G>C (p.Arg260Pro) c.761G>C (p.Arg254Pro) c.659G>C (p.Arg220Pro) c.839G>C (p.Arg280Pro) c.941G>C (p.Arg314Pro) c.881G>C (p.Arg294Pro) n.4440C>G c.764G>C (p.Arg255Pro) c.782G>C (p.Arg261Pro) c.539G>C (p.Arg180Pro) c.572G>C (p.Arg191Pro) c.590G>C (p.Arg197Pro) | dbSNP gnomAD v4 |
2 | g.127426145G= | CA1286883425 | PROC | c.596G= (p.Arg199=) c.121-2212G= c.698G= (p.Arg233=) n.182G= c.779G= (p.Arg260=) c.761G= (p.Arg254=) c.659G= (p.Arg220=) c.839G= (p.Arg280=) c.941G= (p.Arg314=) c.881G= (p.Arg294=) n.4440C= c.764G= (p.Arg255=) c.782G= (p.Arg261=) c.539G= (p.Arg180=) c.572G= (p.Arg191=) c.590G= (p.Arg197=) | |
2 | g.127426145G>T | CA348401313 | PROC | c.596G>T (p.Arg199Leu) c.121-2212G>T c.698G>T (p.Arg233Leu) n.182G>T c.779G>T (p.Arg260Leu) c.761G>T (p.Arg254Leu) c.659G>T (p.Arg220Leu) c.839G>T (p.Arg280Leu) c.941G>T (p.Arg314Leu) c.881G>T (p.Arg294Leu) n.4440C>A c.764G>T (p.Arg255Leu) c.782G>T (p.Arg261Leu) c.539G>T (p.Arg180Leu) c.572G>T (p.Arg191Leu) c.590G>T (p.Arg197Leu) | |
2 | g.127426146A>C | CA428618259 | PROC | c.597A>C (p.Arg199=) c.121-2211A>C c.699A>C (p.Arg233=) n.183A>C c.780A>C (p.Arg260=) c.762A>C (p.Arg254=) c.660A>C (p.Arg220=) c.840A>C (p.Arg280=) c.942A>C (p.Arg314=) c.882A>C (p.Arg294=) n.4439T>G c.765A>C (p.Arg255=) c.783A>C (p.Arg261=) c.540A>C (p.Arg180=) c.573A>C (p.Arg191=) c.591A>C (p.Arg197=) | |
2 | g.127426146A>G | CA428618261 | PROC | c.597A>G (p.Arg199=) c.121-2211A>G c.699A>G (p.Arg233=) n.183A>G c.780A>G (p.Arg260=) c.762A>G (p.Arg254=) c.660A>G (p.Arg220=) c.840A>G (p.Arg280=) c.942A>G (p.Arg314=) c.882A>G (p.Arg294=) n.4439T>C c.765A>G (p.Arg255=) c.783A>G (p.Arg261=) c.540A>G (p.Arg180=) c.573A>G (p.Arg191=) c.591A>G (p.Arg197=) | |
2 | g.127426146A>T | CA428618263 | PROC | c.597A>T (p.Arg199=) c.121-2211A>T c.699A>T (p.Arg233=) n.183A>T c.780A>T (p.Arg260=) c.762A>T (p.Arg254=) c.660A>T (p.Arg220=) c.840A>T (p.Arg280=) c.942A>T (p.Arg314=) c.882A>T (p.Arg294=) n.4439T>A c.765A>T (p.Arg255=) c.783A>T (p.Arg261=) c.540A>T (p.Arg180=) c.573A>T (p.Arg191=) c.591A>T (p.Arg197=) | |
2 | g.127426147G>A | CA348401316 | PROC | c.598G>A (p.Asp200Asn) c.121-2210G>A c.700G>A (p.Asp234Asn) n.184G>A c.781G>A (p.Asp261Asn) c.763G>A (p.Asp255Asn) c.661G>A (p.Asp221Asn) c.841G>A (p.Asp281Asn) c.943G>A (p.Asp315Asn) c.883G>A (p.Asp295Asn) n.4438C>T c.766G>A (p.Asp256Asn) c.784G>A (p.Asp262Asn) c.541G>A (p.Asp181Asn) c.574G>A (p.Asp192Asn) c.592G>A (p.Asp198Asn) | |
2 | g.127426147G>C | CA348401318 | PROC | c.598G>C (p.Asp200His) c.121-2210G>C c.700G>C (p.Asp234His) n.184G>C c.781G>C (p.Asp261His) c.763G>C (p.Asp255His) c.661G>C (p.Asp221His) c.841G>C (p.Asp281His) c.943G>C (p.Asp315His) c.883G>C (p.Asp295His) n.4438C>G c.766G>C (p.Asp256His) c.784G>C (p.Asp262His) c.541G>C (p.Asp181His) c.574G>C (p.Asp192His) c.592G>C (p.Asp198His) | |
2 | g.127426147G>T | CA348401320 | PROC | c.598G>T (p.Asp200Tyr) c.121-2210G>T c.700G>T (p.Asp234Tyr) n.184G>T c.781G>T (p.Asp261Tyr) c.763G>T (p.Asp255Tyr) c.661G>T (p.Asp221Tyr) c.841G>T (p.Asp281Tyr) c.943G>T (p.Asp315Tyr) c.883G>T (p.Asp295Tyr) n.4438C>A c.766G>T (p.Asp256Tyr) c.784G>T (p.Asp262Tyr) c.541G>T (p.Asp181Tyr) c.574G>T (p.Asp192Tyr) c.592G>T (p.Asp198Tyr) | |
2 | g.127426148A>C | CA348401329 | PROC | c.599A>C (p.Asp200Ala) c.121-2209A>C c.701A>C (p.Asp234Ala) n.185A>C c.782A>C (p.Asp261Ala) c.764A>C (p.Asp255Ala) c.662A>C (p.Asp221Ala) c.842A>C (p.Asp281Ala) c.944A>C (p.Asp315Ala) c.884A>C (p.Asp295Ala) n.4437T>G c.767A>C (p.Asp256Ala) c.785A>C (p.Asp262Ala) c.542A>C (p.Asp181Ala) c.575A>C (p.Asp192Ala) c.593A>C (p.Asp198Ala) | |
2 | g.127426148A>G | CA348401324 | PROC | c.599A>G (p.Asp200Gly) c.121-2209A>G c.701A>G (p.Asp234Gly) n.185A>G c.782A>G (p.Asp261Gly) c.764A>G (p.Asp255Gly) c.662A>G (p.Asp221Gly) c.842A>G (p.Asp281Gly) c.944A>G (p.Asp315Gly) c.884A>G (p.Asp295Gly) n.4437T>C c.767A>G (p.Asp256Gly) c.785A>G (p.Asp262Gly) c.542A>G (p.Asp181Gly) c.575A>G (p.Asp192Gly) c.593A>G (p.Asp198Gly) | |
2 | g.127426148A>T | CA348401326 | PROC | c.599A>T (p.Asp200Val) c.121-2209A>T c.701A>T (p.Asp234Val) n.185A>T c.782A>T (p.Asp261Val) c.764A>T (p.Asp255Val) c.662A>T (p.Asp221Val) c.842A>T (p.Asp281Val) c.944A>T (p.Asp315Val) c.884A>T (p.Asp295Val) n.4437T>A c.767A>T (p.Asp256Val) c.785A>T (p.Asp262Val) c.542A>T (p.Asp181Val) c.575A>T (p.Asp192Val) c.593A>T (p.Asp198Val) | |
2 | g.127426149C>A | CA348401330 | PROC | c.600C>A (p.Asp200Glu) c.121-2208C>A c.702C>A (p.Asp234Glu) n.186C>A c.783C>A (p.Asp261Glu) c.765C>A (p.Asp255Glu) c.663C>A (p.Asp221Glu) c.843C>A (p.Asp281Glu) c.945C>A (p.Asp315Glu) c.885C>A (p.Asp295Glu) n.4436G>T c.768C>A (p.Asp256Glu) c.786C>A (p.Asp262Glu) c.543C>A (p.Asp181Glu) c.576C>A (p.Asp192Glu) c.594C>A (p.Asp198Glu) | gnomAD v4 |
2 | g.127426149C>G | CA348401331 | PROC | c.600C>G (p.Asp200Glu) c.121-2208C>G c.702C>G (p.Asp234Glu) n.186C>G c.783C>G (p.Asp261Glu) c.765C>G (p.Asp255Glu) c.663C>G (p.Asp221Glu) c.843C>G (p.Asp281Glu) c.945C>G (p.Asp315Glu) c.885C>G (p.Asp295Glu) n.4436G>C c.768C>G (p.Asp256Glu) c.786C>G (p.Asp262Glu) c.543C>G (p.Asp181Glu) c.576C>G (p.Asp192Glu) c.594C>G (p.Asp198Glu) | |
2 | g.127426149C>T | CA428618265 | PROC | c.600C>T (p.Asp200=) c.121-2208C>T c.702C>T (p.Asp234=) n.186C>T c.783C>T (p.Asp261=) c.765C>T (p.Asp255=) c.663C>T (p.Asp221=) c.843C>T (p.Asp281=) c.945C>T (p.Asp315=) c.885C>T (p.Asp295=) n.4436G>A c.768C>T (p.Asp256=) c.786C>T (p.Asp262=) c.543C>T (p.Asp181=) c.576C>T (p.Asp192=) c.594C>T (p.Asp198=) | |
2 | g.127426150A>C | CA348401333 | PROC | c.601A>C (p.Thr201Pro) c.121-2207A>C c.703A>C (p.Thr235Pro) n.187A>C c.784A>C (p.Thr262Pro) c.766A>C (p.Thr256Pro) c.664A>C (p.Thr222Pro) c.844A>C (p.Thr282Pro) c.946A>C (p.Thr316Pro) c.886A>C (p.Thr296Pro) n.4435T>G c.769A>C (p.Thr257Pro) c.787A>C (p.Thr263Pro) c.544A>C (p.Thr182Pro) c.577A>C (p.Thr193Pro) c.595A>C (p.Thr199Pro) | |
2 | g.127426150A>G | CA348401335 | PROC | c.601A>G (p.Thr201Ala) c.121-2207A>G c.703A>G (p.Thr235Ala) n.187A>G c.784A>G (p.Thr262Ala) c.766A>G (p.Thr256Ala) c.664A>G (p.Thr222Ala) c.844A>G (p.Thr282Ala) c.946A>G (p.Thr316Ala) c.886A>G (p.Thr296Ala) n.4435T>C c.769A>G (p.Thr257Ala) c.787A>G (p.Thr263Ala) c.544A>G (p.Thr182Ala) c.577A>G (p.Thr193Ala) c.595A>G (p.Thr199Ala) | |
2 | g.127426150A>T | CA348401337 | PROC | c.601A>T (p.Thr201Ser) c.121-2207A>T c.703A>T (p.Thr235Ser) n.187A>T c.784A>T (p.Thr262Ser) c.766A>T (p.Thr256Ser) c.664A>T (p.Thr222Ser) c.844A>T (p.Thr282Ser) c.946A>T (p.Thr316Ser) c.886A>T (p.Thr296Ser) n.4435T>A c.769A>T (p.Thr257Ser) c.787A>T (p.Thr263Ser) c.544A>T (p.Thr182Ser) c.577A>T (p.Thr193Ser) c.595A>T (p.Thr199Ser) | |
2 | g.127426151C>A | CA348401340 | PROC | c.602C>A (p.Thr201Lys) c.121-2206C>A c.704C>A (p.Thr235Lys) n.188C>A c.785C>A (p.Thr262Lys) c.767C>A (p.Thr256Lys) c.665C>A (p.Thr222Lys) c.845C>A (p.Thr282Lys) c.947C>A (p.Thr316Lys) c.887C>A (p.Thr296Lys) n.4434G>T c.770C>A (p.Thr257Lys) c.788C>A (p.Thr263Lys) c.545C>A (p.Thr182Lys) c.578C>A (p.Thr193Lys) c.596C>A (p.Thr199Lys) | |
2 | g.127426151C= | CA1286883426 | PROC | c.602C= (p.Thr201=) c.121-2206C= c.704C= (p.Thr235=) n.188C= c.785C= (p.Thr262=) c.767C= (p.Thr256=) c.665C= (p.Thr222=) c.845C= (p.Thr282=) c.947C= (p.Thr316=) c.887C= (p.Thr296=) n.4434G= c.770C= (p.Thr257=) c.788C= (p.Thr263=) c.545C= (p.Thr182=) c.578C= (p.Thr193=) c.596C= (p.Thr199=) | |
2 | g.127426151C>G | CA348401343 | PROC | c.602C>G (p.Thr201Arg) c.121-2206C>G c.704C>G (p.Thr235Arg) n.188C>G c.785C>G (p.Thr262Arg) c.767C>G (p.Thr256Arg) c.665C>G (p.Thr222Arg) c.845C>G (p.Thr282Arg) c.947C>G (p.Thr316Arg) c.887C>G (p.Thr296Arg) n.4434G>C c.770C>G (p.Thr257Arg) c.788C>G (p.Thr263Arg) c.545C>G (p.Thr182Arg) c.578C>G (p.Thr193Arg) c.596C>G (p.Thr199Arg) | |
2 | g.127426151C>T | CA10610735 | PROC | c.602C>T (p.Thr201Ile) c.121-2206C>T c.704C>T (p.Thr235Ile) n.188C>T c.785C>T (p.Thr262Ile) c.767C>T (p.Thr256Ile) c.665C>T (p.Thr222Ile) c.845C>T (p.Thr282Ile) c.947C>T (p.Thr316Ile) c.887C>T (p.Thr296Ile) n.4434G>A c.770C>T (p.Thr257Ile) c.788C>T (p.Thr263Ile) c.545C>T (p.Thr182Ile) c.578C>T (p.Thr193Ile) c.596C>T (p.Thr199Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426151_127426160delinsCAGAAGACCA | CA1286883427 | PROC | c.602_611delinsCAGAAGACCA (p.Thr201=) c.121-2206_121-2197delinsCAGAAGACCA c.704_713delinsCAGAAGACCA (p.Thr235=) n.188_197delinsCAGAAGACCA c.785_794delinsCAGAAGACCA (p.Thr262=) c.767_776delinsCAGAAGACCA (p.Thr256=) c.665_674delinsCAGAAGACCA (p.Thr222=) c.845_854delinsCAGAAGACCA (p.Thr282=) c.947_956delinsCAGAAGACCA (p.Thr316=) c.887_896delinsCAGAAGACCA (p.Thr296=) n.4425_4434delinsTGGTCTTCTG c.770_779delinsCAGAAGACCA (p.Thr257=) c.788_797delinsCAGAAGACCA (p.Thr263=) c.545_554delinsCAGAAGACCA (p.Thr182=) c.578_587delinsCAGAAGACCA (p.Thr193=) c.596_605delinsCAGAAGACCA (p.Thr199=) | |
2 | g.127426152A>C | CA428618270 | PROC | c.603A>C (p.Thr201=) c.121-2205A>C c.705A>C (p.Thr235=) n.189A>C c.786A>C (p.Thr262=) c.768A>C (p.Thr256=) c.666A>C (p.Thr222=) c.846A>C (p.Thr282=) c.948A>C (p.Thr316=) c.888A>C (p.Thr296=) n.4433T>G c.771A>C (p.Thr257=) c.789A>C (p.Thr263=) c.546A>C (p.Thr182=) c.579A>C (p.Thr193=) c.597A>C (p.Thr199=) | |
2 | g.127426152A>G | CA428618271 | PROC | c.603A>G (p.Thr201=) c.121-2205A>G c.705A>G (p.Thr235=) n.189A>G c.786A>G (p.Thr262=) c.768A>G (p.Thr256=) c.666A>G (p.Thr222=) c.846A>G (p.Thr282=) c.948A>G (p.Thr316=) c.888A>G (p.Thr296=) n.4433T>C c.771A>G (p.Thr257=) c.789A>G (p.Thr263=) c.546A>G (p.Thr182=) c.579A>G (p.Thr193=) c.597A>G (p.Thr199=) | |
2 | g.127426152A>T | CA428618269 | PROC | c.603A>T (p.Thr201=) c.121-2205A>T c.705A>T (p.Thr235=) n.189A>T c.786A>T (p.Thr262=) c.768A>T (p.Thr256=) c.666A>T (p.Thr222=) c.846A>T (p.Thr282=) c.948A>T (p.Thr316=) c.888A>T (p.Thr296=) n.4433T>A c.771A>T (p.Thr257=) c.789A>T (p.Thr263=) c.546A>T (p.Thr182=) c.579A>T (p.Thr193=) c.597A>T (p.Thr199=) | |
2 | g.127426163_127426171dup | CA1859397 | PROC | c.614_622dup (p.Gln207_Val208insGluAspGln) c.121-2194_121-2186dup c.716_724dup (p.Gln241_Val242insGluAspGln) n.200_208dup c.797_805dup (p.Gln268_Val269insGluAspGln) c.779_787dup (p.Gln262_Val263insGluAspGln) c.677_685dup (p.Gln228_Val229insGluAspGln) c.857_865dup (p.Gln288_Val289insGluAspGln) c.959_967dup (p.Gln322_Val323insGluAspGln) c.899_907dup (p.Gln302_Val303insGluAspGln) n.4425_4433dup c.782_790dup (p.Gln263_Val264insGluAspGln) c.800_808dup (p.Gln269_Val270insGluAspGln) c.557_565dup (p.Gln188_Val189insGluAspGln) c.590_598dup (p.Gln199_Val200insGluAspGln) c.608_616dup (p.Gln205_Val206insGluAspGln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426163_127426171del | CA916645795 | PROC | c.614_622del (p.Glu205_Gln207del) c.121-2194_121-2186del c.716_724del (p.Glu239_Gln241del) n.200_208del c.797_805del (p.Glu266_Gln268del) c.779_787del (p.Glu260_Gln262del) c.677_685del (p.Glu226_Gln228del) c.857_865del (p.Glu286_Gln288del) c.959_967del (p.Glu320_Gln322del) c.899_907del (p.Glu300_Gln302del) n.4425_4433del c.782_790del (p.Glu261_Gln263del) c.800_808del (p.Glu267_Gln269del) c.557_565del (p.Glu186_Gln188del) c.590_598del (p.Glu197_Gln199del) c.608_616del (p.Glu203_Gln205del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426153G>A | CA348401347 | PROC | c.604G>A (p.Glu202Lys) c.121-2204G>A c.706G>A (p.Glu236Lys) n.190G>A c.787G>A (p.Glu263Lys) c.769G>A (p.Glu257Lys) c.667G>A (p.Glu223Lys) c.847G>A (p.Glu283Lys) c.949G>A (p.Glu317Lys) c.889G>A (p.Glu297Lys) n.4432C>T c.772G>A (p.Glu258Lys) c.790G>A (p.Glu264Lys) c.547G>A (p.Glu183Lys) c.580G>A (p.Glu194Lys) c.598G>A (p.Glu200Lys) | |
2 | g.127426153G>C | CA348401348 | PROC | c.604G>C (p.Glu202Gln) c.121-2204G>C c.706G>C (p.Glu236Gln) n.190G>C c.787G>C (p.Glu263Gln) c.769G>C (p.Glu257Gln) c.667G>C (p.Glu223Gln) c.847G>C (p.Glu283Gln) c.949G>C (p.Glu317Gln) c.889G>C (p.Glu297Gln) n.4432C>G c.772G>C (p.Glu258Gln) c.790G>C (p.Glu264Gln) c.547G>C (p.Glu183Gln) c.580G>C (p.Glu194Gln) c.598G>C (p.Glu200Gln) | dbSNP |
2 | g.127426153G= | CA1286883428 | PROC | c.604G= (p.Glu202=) c.121-2204G= c.706G= (p.Glu236=) n.190G= c.787G= (p.Glu263=) c.769G= (p.Glu257=) c.667G= (p.Glu223=) c.847G= (p.Glu283=) c.949G= (p.Glu317=) c.889G= (p.Glu297=) n.4432C= c.772G= (p.Glu258=) c.790G= (p.Glu264=) c.547G= (p.Glu183=) c.580G= (p.Glu194=) c.598G= (p.Glu200=) | |
2 | g.127426153G>T | CA348401351 | PROC | c.604G>T (p.Glu202Ter) c.121-2204G>T c.706G>T (p.Glu236Ter) n.190G>T c.787G>T (p.Glu263Ter) c.769G>T (p.Glu257Ter) c.667G>T (p.Glu223Ter) c.847G>T (p.Glu283Ter) c.949G>T (p.Glu317Ter) c.889G>T (p.Glu297Ter) n.4432C>A c.772G>T (p.Glu258Ter) c.790G>T (p.Glu264Ter) c.547G>T (p.Glu183Ter) c.580G>T (p.Glu194Ter) c.598G>T (p.Glu200Ter) | gnomAD v4 |
2 | g.127426154A>C | CA348401355 | PROC | c.605A>C (p.Glu202Ala) c.121-2203A>C c.707A>C (p.Glu236Ala) n.191A>C c.788A>C (p.Glu263Ala) c.770A>C (p.Glu257Ala) c.668A>C (p.Glu223Ala) c.848A>C (p.Glu283Ala) c.950A>C (p.Glu317Ala) c.890A>C (p.Glu297Ala) n.4431T>G c.773A>C (p.Glu258Ala) c.791A>C (p.Glu264Ala) c.548A>C (p.Glu183Ala) c.581A>C (p.Glu194Ala) c.599A>C (p.Glu200Ala) | |
2 | g.127426154A>G | CA348401357 | PROC | c.605A>G (p.Glu202Gly) c.121-2203A>G c.707A>G (p.Glu236Gly) n.191A>G c.788A>G (p.Glu263Gly) c.770A>G (p.Glu257Gly) c.668A>G (p.Glu223Gly) c.848A>G (p.Glu283Gly) c.950A>G (p.Glu317Gly) c.890A>G (p.Glu297Gly) n.4431T>C c.773A>G (p.Glu258Gly) c.791A>G (p.Glu264Gly) c.548A>G (p.Glu183Gly) c.581A>G (p.Glu194Gly) c.599A>G (p.Glu200Gly) | |
2 | g.127426154A>T | CA348401359 | PROC | c.605A>T (p.Glu202Val) c.121-2203A>T c.707A>T (p.Glu236Val) n.191A>T c.788A>T (p.Glu263Val) c.770A>T (p.Glu257Val) c.668A>T (p.Glu223Val) c.848A>T (p.Glu283Val) c.950A>T (p.Glu317Val) c.890A>T (p.Glu297Val) n.4431T>A c.773A>T (p.Glu258Val) c.791A>T (p.Glu264Val) c.548A>T (p.Glu183Val) c.581A>T (p.Glu194Val) c.599A>T (p.Glu200Val) | |
2 | g.127426155A>C | CA348401362 | PROC | c.606A>C (p.Glu202Asp) c.121-2202A>C c.708A>C (p.Glu236Asp) n.192A>C c.789A>C (p.Glu263Asp) c.771A>C (p.Glu257Asp) c.669A>C (p.Glu223Asp) c.849A>C (p.Glu283Asp) c.951A>C (p.Glu317Asp) c.891A>C (p.Glu297Asp) n.4430T>G c.774A>C (p.Glu258Asp) c.792A>C (p.Glu264Asp) c.549A>C (p.Glu183Asp) c.582A>C (p.Glu194Asp) c.600A>C (p.Glu200Asp) | |
2 | g.127426155A>G | CA428618275 | PROC | c.606A>G (p.Glu202=) c.121-2202A>G c.708A>G (p.Glu236=) n.192A>G c.789A>G (p.Glu263=) c.771A>G (p.Glu257=) c.669A>G (p.Glu223=) c.849A>G (p.Glu283=) c.951A>G (p.Glu317=) c.891A>G (p.Glu297=) n.4430T>C c.774A>G (p.Glu258=) c.792A>G (p.Glu264=) c.549A>G (p.Glu183=) c.582A>G (p.Glu194=) c.600A>G (p.Glu200=) | |
2 | g.127426155A>T | CA348401365 | PROC | c.606A>T (p.Glu202Asp) c.121-2202A>T c.708A>T (p.Glu236Asp) n.192A>T c.789A>T (p.Glu263Asp) c.771A>T (p.Glu257Asp) c.669A>T (p.Glu223Asp) c.849A>T (p.Glu283Asp) c.951A>T (p.Glu317Asp) c.891A>T (p.Glu297Asp) n.4430T>A c.774A>T (p.Glu258Asp) c.792A>T (p.Glu264Asp) c.549A>T (p.Glu183Asp) c.582A>T (p.Glu194Asp) c.600A>T (p.Glu200Asp) | |
2 | g.127426156G>A | CA1859398 | PROC | c.607G>A (p.Asp203Asn) c.121-2201G>A c.709G>A (p.Asp237Asn) n.193G>A c.790G>A (p.Asp264Asn) c.772G>A (p.Asp258Asn) c.670G>A (p.Asp224Asn) c.850G>A (p.Asp284Asn) c.952G>A (p.Asp318Asn) c.892G>A (p.Asp298Asn) n.4429C>T c.775G>A (p.Asp259Asn) c.793G>A (p.Asp265Asn) c.550G>A (p.Asp184Asn) c.583G>A (p.Asp195Asn) c.601G>A (p.Asp201Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426156G>C | CA348401367 | PROC | c.607G>C (p.Asp203His) c.121-2201G>C c.709G>C (p.Asp237His) n.193G>C c.790G>C (p.Asp264His) c.772G>C (p.Asp258His) c.670G>C (p.Asp224His) c.850G>C (p.Asp284His) c.952G>C (p.Asp318His) c.892G>C (p.Asp298His) n.4429C>G c.775G>C (p.Asp259His) c.793G>C (p.Asp265His) c.550G>C (p.Asp184His) c.583G>C (p.Asp195His) c.601G>C (p.Asp201His) | |
2 | g.127426156G= | CA1286883429 | PROC | c.607G= (p.Asp203=) c.121-2201G= c.709G= (p.Asp237=) n.193G= c.790G= (p.Asp264=) c.772G= (p.Asp258=) c.670G= (p.Asp224=) c.850G= (p.Asp284=) c.952G= (p.Asp318=) c.892G= (p.Asp298=) n.4429C= c.775G= (p.Asp259=) c.793G= (p.Asp265=) c.550G= (p.Asp184=) c.583G= (p.Asp195=) c.601G= (p.Asp201=) | |
2 | g.127426156G>T | CA348401368 | PROC | c.607G>T (p.Asp203Tyr) c.121-2201G>T c.709G>T (p.Asp237Tyr) n.193G>T c.790G>T (p.Asp264Tyr) c.772G>T (p.Asp258Tyr) c.670G>T (p.Asp224Tyr) c.850G>T (p.Asp284Tyr) c.952G>T (p.Asp318Tyr) c.892G>T (p.Asp298Tyr) n.4429C>A c.775G>T (p.Asp259Tyr) c.793G>T (p.Asp265Tyr) c.550G>T (p.Asp184Tyr) c.583G>T (p.Asp195Tyr) c.601G>T (p.Asp201Tyr) | |
2 | g.127426157A>C | CA348401371 | PROC | c.608A>C (p.Asp203Ala) c.121-2200A>C c.710A>C (p.Asp237Ala) n.194A>C c.791A>C (p.Asp264Ala) c.773A>C (p.Asp258Ala) c.671A>C (p.Asp224Ala) c.851A>C (p.Asp284Ala) c.953A>C (p.Asp318Ala) c.893A>C (p.Asp298Ala) n.4428T>G c.776A>C (p.Asp259Ala) c.794A>C (p.Asp265Ala) c.551A>C (p.Asp184Ala) c.584A>C (p.Asp195Ala) c.602A>C (p.Asp201Ala) | |
2 | g.127426157A>G | CA348401373 | PROC | c.608A>G (p.Asp203Gly) c.121-2200A>G c.710A>G (p.Asp237Gly) n.194A>G c.791A>G (p.Asp264Gly) c.773A>G (p.Asp258Gly) c.671A>G (p.Asp224Gly) c.851A>G (p.Asp284Gly) c.953A>G (p.Asp318Gly) c.893A>G (p.Asp298Gly) n.4428T>C c.776A>G (p.Asp259Gly) c.794A>G (p.Asp265Gly) c.551A>G (p.Asp184Gly) c.584A>G (p.Asp195Gly) c.602A>G (p.Asp201Gly) | |
2 | g.127426157A>T | CA348401369 | PROC | c.608A>T (p.Asp203Val) c.121-2200A>T c.710A>T (p.Asp237Val) n.194A>T c.791A>T (p.Asp264Val) c.773A>T (p.Asp258Val) c.671A>T (p.Asp224Val) c.851A>T (p.Asp284Val) c.953A>T (p.Asp318Val) c.893A>T (p.Asp298Val) n.4428T>A c.776A>T (p.Asp259Val) c.794A>T (p.Asp265Val) c.551A>T (p.Asp184Val) c.584A>T (p.Asp195Val) c.602A>T (p.Asp201Val) | |
2 | g.127426158C>A | CA348401374 | PROC | c.609C>A (p.Asp203Glu) c.121-2199C>A c.711C>A (p.Asp237Glu) n.195C>A c.792C>A (p.Asp264Glu) c.774C>A (p.Asp258Glu) c.672C>A (p.Asp224Glu) c.852C>A (p.Asp284Glu) c.954C>A (p.Asp318Glu) c.894C>A (p.Asp298Glu) n.4427G>T c.777C>A (p.Asp259Glu) c.795C>A (p.Asp265Glu) c.552C>A (p.Asp184Glu) c.585C>A (p.Asp195Glu) c.603C>A (p.Asp201Glu) | |
2 | g.127426158C>G | CA348401375 | PROC | c.609C>G (p.Asp203Glu) c.121-2199C>G c.711C>G (p.Asp237Glu) n.195C>G c.792C>G (p.Asp264Glu) c.774C>G (p.Asp258Glu) c.672C>G (p.Asp224Glu) c.852C>G (p.Asp284Glu) c.954C>G (p.Asp318Glu) c.894C>G (p.Asp298Glu) n.4427G>C c.777C>G (p.Asp259Glu) c.795C>G (p.Asp265Glu) c.552C>G (p.Asp184Glu) c.585C>G (p.Asp195Glu) c.603C>G (p.Asp201Glu) | |
2 | g.127426158C>T | CA428618279 | PROC | c.609C>T (p.Asp203=) c.121-2199C>T c.711C>T (p.Asp237=) n.195C>T c.792C>T (p.Asp264=) c.774C>T (p.Asp258=) c.672C>T (p.Asp224=) c.852C>T (p.Asp284=) c.954C>T (p.Asp318=) c.894C>T (p.Asp298=) n.4427G>A c.777C>T (p.Asp259=) c.795C>T (p.Asp265=) c.552C>T (p.Asp184=) c.585C>T (p.Asp195=) c.603C>T (p.Asp201=) | |
2 | g.127426159C>A | CA348401378 | PROC | c.610C>A (p.Gln204Lys) c.121-2198C>A c.712C>A (p.Gln238Lys) n.196C>A c.793C>A (p.Gln265Lys) c.775C>A (p.Gln259Lys) c.673C>A (p.Gln225Lys) c.853C>A (p.Gln285Lys) c.955C>A (p.Gln319Lys) c.895C>A (p.Gln299Lys) n.4426G>T c.778C>A (p.Gln260Lys) c.796C>A (p.Gln266Lys) c.553C>A (p.Gln185Lys) c.586C>A (p.Gln196Lys) c.604C>A (p.Gln202Lys) | |
2 | g.127426159C= | CA1286883430 | PROC | c.610C= (p.Gln204=) c.121-2198C= c.712C= (p.Gln238=) n.196C= c.793C= (p.Gln265=) c.775C= (p.Gln259=) c.673C= (p.Gln225=) c.853C= (p.Gln285=) c.955C= (p.Gln319=) c.895C= (p.Gln299=) n.4426G= c.778C= (p.Gln260=) c.796C= (p.Gln266=) c.553C= (p.Gln185=) c.586C= (p.Gln196=) c.604C= (p.Gln202=) | |
2 | g.127426159C>G | CA55348349 | PROC | c.610C>G (p.Gln204Glu) c.121-2198C>G c.712C>G (p.Gln238Glu) n.196C>G c.793C>G (p.Gln265Glu) c.775C>G (p.Gln259Glu) c.673C>G (p.Gln225Glu) c.853C>G (p.Gln285Glu) c.955C>G (p.Gln319Glu) c.895C>G (p.Gln299Glu) n.4426G>C c.778C>G (p.Gln260Glu) c.796C>G (p.Gln266Glu) c.553C>G (p.Gln185Glu) c.586C>G (p.Gln196Glu) c.604C>G (p.Gln202Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426159C>T | CA348401382 | PROC | c.610C>T (p.Gln204Ter) c.121-2198C>T c.712C>T (p.Gln238Ter) n.196C>T c.793C>T (p.Gln265Ter) c.775C>T (p.Gln259Ter) c.673C>T (p.Gln225Ter) c.853C>T (p.Gln285Ter) c.955C>T (p.Gln319Ter) c.895C>T (p.Gln299Ter) n.4426G>A c.778C>T (p.Gln260Ter) c.796C>T (p.Gln266Ter) c.553C>T (p.Gln185Ter) c.586C>T (p.Gln196Ter) c.604C>T (p.Gln202Ter) | |
2 | g.127426160A>C | CA348401386 | PROC | c.611A>C (p.Gln204Pro) c.121-2197A>C c.713A>C (p.Gln238Pro) n.197A>C c.794A>C (p.Gln265Pro) c.776A>C (p.Gln259Pro) c.674A>C (p.Gln225Pro) c.854A>C (p.Gln285Pro) c.956A>C (p.Gln319Pro) c.896A>C (p.Gln299Pro) n.4425T>G c.779A>C (p.Gln260Pro) c.797A>C (p.Gln266Pro) c.554A>C (p.Gln185Pro) c.587A>C (p.Gln196Pro) c.605A>C (p.Gln202Pro) | |
2 | g.127426160A>G | CA348401384 | PROC | c.611A>G (p.Gln204Arg) c.121-2197A>G c.713A>G (p.Gln238Arg) n.197A>G c.794A>G (p.Gln265Arg) c.776A>G (p.Gln259Arg) c.674A>G (p.Gln225Arg) c.854A>G (p.Gln285Arg) c.956A>G (p.Gln319Arg) c.896A>G (p.Gln299Arg) n.4425T>C c.779A>G (p.Gln260Arg) c.797A>G (p.Gln266Arg) c.554A>G (p.Gln185Arg) c.587A>G (p.Gln196Arg) c.605A>G (p.Gln202Arg) | |
2 | g.127426160A>T | CA348401385 | PROC | c.611A>T (p.Gln204Leu) c.121-2197A>T c.713A>T (p.Gln238Leu) n.197A>T c.794A>T (p.Gln265Leu) c.776A>T (p.Gln259Leu) c.674A>T (p.Gln225Leu) c.854A>T (p.Gln285Leu) c.956A>T (p.Gln319Leu) c.896A>T (p.Gln299Leu) n.4425T>A c.779A>T (p.Gln260Leu) c.797A>T (p.Gln266Leu) c.554A>T (p.Gln185Leu) c.587A>T (p.Gln196Leu) c.605A>T (p.Gln202Leu) | |
2 | g.127426164_127426166del | CA2577090359 | PROC | c.615_617del (p.Glu205del) c.121-2193_121-2191del c.717_719del (p.Glu239del) n.201_203del c.798_800del (p.Glu266del) c.780_782del (p.Glu260del) c.678_680del (p.Glu226del) c.858_860del (p.Glu286del) c.960_962del (p.Glu320del) c.900_902del (p.Glu300del) n.4423_4425del c.783_785del (p.Glu261del) c.801_803del (p.Glu267del) c.558_560del (p.Glu186del) c.591_593del (p.Glu197del) c.609_611del (p.Glu203del) | |
2 | g.127426161A>C | CA348401389 | PROC | c.612A>C (p.Gln204His) c.121-2196A>C c.714A>C (p.Gln238His) n.198A>C c.795A>C (p.Gln265His) c.777A>C (p.Gln259His) c.675A>C (p.Gln225His) c.855A>C (p.Gln285His) c.957A>C (p.Gln319His) c.897A>C (p.Gln299His) n.4424T>G c.780A>C (p.Gln260His) c.798A>C (p.Gln266His) c.555A>C (p.Gln185His) c.588A>C (p.Gln196His) c.606A>C (p.Gln202His) | |
2 | g.127426161A>G | CA428618286 | PROC | c.612A>G (p.Gln204=) c.121-2196A>G c.714A>G (p.Gln238=) n.198A>G c.795A>G (p.Gln265=) c.777A>G (p.Gln259=) c.675A>G (p.Gln225=) c.855A>G (p.Gln285=) c.957A>G (p.Gln319=) c.897A>G (p.Gln299=) n.4424T>C c.780A>G (p.Gln260=) c.798A>G (p.Gln266=) c.555A>G (p.Gln185=) c.588A>G (p.Gln196=) c.606A>G (p.Gln202=) | |
2 | g.127426161A>T | CA348401392 | PROC | c.612A>T (p.Gln204His) c.121-2196A>T c.714A>T (p.Gln238His) n.198A>T c.795A>T (p.Gln265His) c.777A>T (p.Gln259His) c.675A>T (p.Gln225His) c.855A>T (p.Gln285His) c.957A>T (p.Gln319His) c.897A>T (p.Gln299His) n.4424T>A c.780A>T (p.Gln260His) c.798A>T (p.Gln266His) c.555A>T (p.Gln185His) c.588A>T (p.Gln196His) c.606A>T (p.Gln202His) | |
2 | g.127426162G>A | CA348401403 | PROC | c.613G>A (p.Glu205Lys) c.121-2195G>A c.715G>A (p.Glu239Lys) n.199G>A c.796G>A (p.Glu266Lys) c.778G>A (p.Glu260Lys) c.676G>A (p.Glu226Lys) c.856G>A (p.Glu286Lys) c.958G>A (p.Glu320Lys) c.898G>A (p.Glu300Lys) n.4423C>T c.781G>A (p.Glu261Lys) c.799G>A (p.Glu267Lys) c.556G>A (p.Glu186Lys) c.589G>A (p.Glu197Lys) c.607G>A (p.Glu203Lys) | |
2 | g.127426162G>C | CA348401408 | PROC | c.613G>C (p.Glu205Gln) c.121-2195G>C c.715G>C (p.Glu239Gln) n.199G>C c.796G>C (p.Glu266Gln) c.778G>C (p.Glu260Gln) c.676G>C (p.Glu226Gln) c.856G>C (p.Glu286Gln) c.958G>C (p.Glu320Gln) c.898G>C (p.Glu300Gln) n.4423C>G c.781G>C (p.Glu261Gln) c.799G>C (p.Glu267Gln) c.556G>C (p.Glu186Gln) c.589G>C (p.Glu197Gln) c.607G>C (p.Glu203Gln) | |
2 | g.127426162G>T | CA348401411 | PROC | c.613G>T (p.Glu205Ter) c.121-2195G>T c.715G>T (p.Glu239Ter) n.199G>T c.796G>T (p.Glu266Ter) c.778G>T (p.Glu260Ter) c.676G>T (p.Glu226Ter) c.856G>T (p.Glu286Ter) c.958G>T (p.Glu320Ter) c.898G>T (p.Glu300Ter) n.4423C>A c.781G>T (p.Glu261Ter) c.799G>T (p.Glu267Ter) c.556G>T (p.Glu186Ter) c.589G>T (p.Glu197Ter) c.607G>T (p.Glu203Ter) | |
2 | g.127426163A>C | CA348401415 | PROC | c.614A>C (p.Glu205Ala) c.121-2194A>C c.716A>C (p.Glu239Ala) n.200A>C c.797A>C (p.Glu266Ala) c.779A>C (p.Glu260Ala) c.677A>C (p.Glu226Ala) c.857A>C (p.Glu286Ala) c.959A>C (p.Glu320Ala) c.899A>C (p.Glu300Ala) n.4422T>G c.782A>C (p.Glu261Ala) c.800A>C (p.Glu267Ala) c.557A>C (p.Glu186Ala) c.590A>C (p.Glu197Ala) c.608A>C (p.Glu203Ala) | |
2 | g.127426163A>G | CA348401414 | PROC | c.614A>G (p.Glu205Gly) c.121-2194A>G c.716A>G (p.Glu239Gly) n.200A>G c.797A>G (p.Glu266Gly) c.779A>G (p.Glu260Gly) c.677A>G (p.Glu226Gly) c.857A>G (p.Glu286Gly) c.959A>G (p.Glu320Gly) c.899A>G (p.Glu300Gly) n.4422T>C c.782A>G (p.Glu261Gly) c.800A>G (p.Glu267Gly) c.557A>G (p.Glu186Gly) c.590A>G (p.Glu197Gly) c.608A>G (p.Glu203Gly) | |
2 | g.127426163A>T | CA348401413 | PROC | c.614A>T (p.Glu205Val) c.121-2194A>T c.716A>T (p.Glu239Val) n.200A>T c.797A>T (p.Glu266Val) c.779A>T (p.Glu260Val) c.677A>T (p.Glu226Val) c.857A>T (p.Glu286Val) c.959A>T (p.Glu320Val) c.899A>T (p.Glu300Val) n.4422T>A c.782A>T (p.Glu261Val) c.800A>T (p.Glu267Val) c.557A>T (p.Glu186Val) c.590A>T (p.Glu197Val) c.608A>T (p.Glu203Val) | |
2 | g.127426164A= | CA1286883431 | PROC | c.615A= (p.Glu205=) c.121-2193A= c.717A= (p.Glu239=) n.201A= c.798A= (p.Glu266=) c.780A= (p.Glu260=) c.678A= (p.Glu226=) c.858A= (p.Glu286=) c.960A= (p.Glu320=) c.900A= (p.Glu300=) n.4421T= c.783A= (p.Glu261=) c.801A= (p.Glu267=) c.558A= (p.Glu186=) c.591A= (p.Glu197=) c.609A= (p.Glu203=) | |
2 | g.127426164A>C | CA348401416 | PROC | c.615A>C (p.Glu205Asp) c.121-2193A>C c.717A>C (p.Glu239Asp) n.201A>C c.798A>C (p.Glu266Asp) c.780A>C (p.Glu260Asp) c.678A>C (p.Glu226Asp) c.858A>C (p.Glu286Asp) c.960A>C (p.Glu320Asp) c.900A>C (p.Glu300Asp) n.4421T>G c.783A>C (p.Glu261Asp) c.801A>C (p.Glu267Asp) c.558A>C (p.Glu186Asp) c.591A>C (p.Glu197Asp) c.609A>C (p.Glu203Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426164A>G | CA428618288 | PROC | c.615A>G (p.Glu205=) c.121-2193A>G c.717A>G (p.Glu239=) n.201A>G c.798A>G (p.Glu266=) c.780A>G (p.Glu260=) c.678A>G (p.Glu226=) c.858A>G (p.Glu286=) c.960A>G (p.Glu320=) c.900A>G (p.Glu300=) n.4421T>C c.783A>G (p.Glu261=) c.801A>G (p.Glu267=) c.558A>G (p.Glu186=) c.591A>G (p.Glu197=) c.609A>G (p.Glu203=) | |
2 | g.127426164A>T | CA348401417 | PROC | c.615A>T (p.Glu205Asp) c.121-2193A>T c.717A>T (p.Glu239Asp) n.201A>T c.798A>T (p.Glu266Asp) c.780A>T (p.Glu260Asp) c.678A>T (p.Glu226Asp) c.858A>T (p.Glu286Asp) c.960A>T (p.Glu320Asp) c.900A>T (p.Glu300Asp) n.4421T>A c.783A>T (p.Glu261Asp) c.801A>T (p.Glu267Asp) c.558A>T (p.Glu186Asp) c.591A>T (p.Glu197Asp) c.609A>T (p.Glu203Asp) | |
2 | g.127426165G>A | CA348401419 | PROC | c.616G>A (p.Asp206Asn) c.121-2192G>A c.718G>A (p.Asp240Asn) n.202G>A c.799G>A (p.Asp267Asn) c.781G>A (p.Asp261Asn) c.679G>A (p.Asp227Asn) c.859G>A (p.Asp287Asn) c.961G>A (p.Asp321Asn) c.901G>A (p.Asp301Asn) n.4420C>T c.784G>A (p.Asp262Asn) c.802G>A (p.Asp268Asn) c.559G>A (p.Asp187Asn) c.592G>A (p.Asp198Asn) c.610G>A (p.Asp204Asn) | |
2 | g.127426165G>C | CA348401422 | PROC | c.616G>C (p.Asp206His) c.121-2192G>C c.718G>C (p.Asp240His) n.202G>C c.799G>C (p.Asp267His) c.781G>C (p.Asp261His) c.679G>C (p.Asp227His) c.859G>C (p.Asp287His) c.961G>C (p.Asp321His) c.901G>C (p.Asp301His) n.4420C>G c.784G>C (p.Asp262His) c.802G>C (p.Asp268His) c.559G>C (p.Asp187His) c.592G>C (p.Asp198His) c.610G>C (p.Asp204His) | |
2 | g.127426165G>T | CA348401421 | PROC | c.616G>T (p.Asp206Tyr) c.121-2192G>T c.718G>T (p.Asp240Tyr) n.202G>T c.799G>T (p.Asp267Tyr) c.781G>T (p.Asp261Tyr) c.679G>T (p.Asp227Tyr) c.859G>T (p.Asp287Tyr) c.961G>T (p.Asp321Tyr) c.901G>T (p.Asp301Tyr) n.4420C>A c.784G>T (p.Asp262Tyr) c.802G>T (p.Asp268Tyr) c.559G>T (p.Asp187Tyr) c.592G>T (p.Asp198Tyr) c.610G>T (p.Asp204Tyr) | |
2 | g.127426166A>C | CA348401423 | PROC | c.617A>C (p.Asp206Ala) c.121-2191A>C c.719A>C (p.Asp240Ala) n.203A>C c.800A>C (p.Asp267Ala) c.782A>C (p.Asp261Ala) c.680A>C (p.Asp227Ala) c.860A>C (p.Asp287Ala) c.962A>C (p.Asp321Ala) c.902A>C (p.Asp301Ala) n.4419T>G c.785A>C (p.Asp262Ala) c.803A>C (p.Asp268Ala) c.560A>C (p.Asp187Ala) c.593A>C (p.Asp198Ala) c.611A>C (p.Asp204Ala) | |
2 | g.127426166A>G | CA348401425 | PROC | c.617A>G (p.Asp206Gly) c.121-2191A>G c.719A>G (p.Asp240Gly) n.203A>G c.800A>G (p.Asp267Gly) c.782A>G (p.Asp261Gly) c.680A>G (p.Asp227Gly) c.860A>G (p.Asp287Gly) c.962A>G (p.Asp321Gly) c.902A>G (p.Asp301Gly) n.4419T>C c.785A>G (p.Asp262Gly) c.803A>G (p.Asp268Gly) c.560A>G (p.Asp187Gly) c.593A>G (p.Asp198Gly) c.611A>G (p.Asp204Gly) | |
2 | g.127426166A>T | CA348401424 | PROC | c.617A>T (p.Asp206Val) c.121-2191A>T c.719A>T (p.Asp240Val) n.203A>T c.800A>T (p.Asp267Val) c.782A>T (p.Asp261Val) c.680A>T (p.Asp227Val) c.860A>T (p.Asp287Val) c.962A>T (p.Asp321Val) c.902A>T (p.Asp301Val) n.4419T>A c.785A>T (p.Asp262Val) c.803A>T (p.Asp268Val) c.560A>T (p.Asp187Val) c.593A>T (p.Asp198Val) c.611A>T (p.Asp204Val) | |
2 | g.127426167C>A | CA348401426 | PROC | c.618C>A (p.Asp206Glu) c.121-2190C>A c.720C>A (p.Asp240Glu) n.204C>A c.801C>A (p.Asp267Glu) c.783C>A (p.Asp261Glu) c.681C>A (p.Asp227Glu) c.861C>A (p.Asp287Glu) c.963C>A (p.Asp321Glu) c.903C>A (p.Asp301Glu) n.4418G>T c.786C>A (p.Asp262Glu) c.804C>A (p.Asp268Glu) c.561C>A (p.Asp187Glu) c.594C>A (p.Asp198Glu) c.612C>A (p.Asp204Glu) | |
2 | g.127426167C= | CA1286883432 | PROC | c.618C= (p.Asp206=) c.121-2190C= c.720C= (p.Asp240=) n.204C= c.801C= (p.Asp267=) c.783C= (p.Asp261=) c.681C= (p.Asp227=) c.861C= (p.Asp287=) c.963C= (p.Asp321=) c.903C= (p.Asp301=) n.4418G= c.786C= (p.Asp262=) c.804C= (p.Asp268=) c.561C= (p.Asp187=) c.594C= (p.Asp198=) c.612C= (p.Asp204=) | |
2 | g.127426167C>G | CA348401428 | PROC | c.618C>G (p.Asp206Glu) c.121-2190C>G c.720C>G (p.Asp240Glu) n.204C>G c.801C>G (p.Asp267Glu) c.783C>G (p.Asp261Glu) c.681C>G (p.Asp227Glu) c.861C>G (p.Asp287Glu) c.963C>G (p.Asp321Glu) c.903C>G (p.Asp301Glu) n.4418G>C c.786C>G (p.Asp262Glu) c.804C>G (p.Asp268Glu) c.561C>G (p.Asp187Glu) c.594C>G (p.Asp198Glu) c.612C>G (p.Asp204Glu) | |
2 | g.127426167C>T | CA428618293 | PROC | c.618C>T (p.Asp206=) c.121-2190C>T c.720C>T (p.Asp240=) n.204C>T c.801C>T (p.Asp267=) c.783C>T (p.Asp261=) c.681C>T (p.Asp227=) c.861C>T (p.Asp287=) c.963C>T (p.Asp321=) c.903C>T (p.Asp301=) n.4418G>A c.786C>T (p.Asp262=) c.804C>T (p.Asp268=) c.561C>T (p.Asp187=) c.594C>T (p.Asp198=) c.612C>T (p.Asp204=) | dbSNP |
2 | g.127426168C>A | CA348401430 | PROC | c.619C>A (p.Gln207Lys) c.121-2189C>A c.721C>A (p.Gln241Lys) n.205C>A c.802C>A (p.Gln268Lys) c.784C>A (p.Gln262Lys) c.682C>A (p.Gln228Lys) c.862C>A (p.Gln288Lys) c.964C>A (p.Gln322Lys) c.904C>A (p.Gln302Lys) n.4417G>T c.787C>A (p.Gln263Lys) c.805C>A (p.Gln269Lys) c.562C>A (p.Gln188Lys) c.595C>A (p.Gln199Lys) c.613C>A (p.Gln205Lys) | |
2 | g.127426168C>G | CA348401432 | PROC | c.619C>G (p.Gln207Glu) c.121-2189C>G c.721C>G (p.Gln241Glu) n.205C>G c.802C>G (p.Gln268Glu) c.784C>G (p.Gln262Glu) c.682C>G (p.Gln228Glu) c.862C>G (p.Gln288Glu) c.964C>G (p.Gln322Glu) c.904C>G (p.Gln302Glu) n.4417G>C c.787C>G (p.Gln263Glu) c.805C>G (p.Gln269Glu) c.562C>G (p.Gln188Glu) c.595C>G (p.Gln199Glu) c.613C>G (p.Gln205Glu) | |
2 | g.127426168C>T | CA348401435 | PROC | c.619C>T (p.Gln207Ter) c.121-2189C>T c.721C>T (p.Gln241Ter) n.205C>T c.802C>T (p.Gln268Ter) c.784C>T (p.Gln262Ter) c.682C>T (p.Gln228Ter) c.862C>T (p.Gln288Ter) c.964C>T (p.Gln322Ter) c.904C>T (p.Gln302Ter) n.4417G>A c.787C>T (p.Gln263Ter) c.805C>T (p.Gln269Ter) c.562C>T (p.Gln188Ter) c.595C>T (p.Gln199Ter) c.613C>T (p.Gln205Ter) | |
2 | g.127426169A>C | CA348401437 | PROC | c.620A>C (p.Gln207Pro) c.121-2188A>C c.722A>C (p.Gln241Pro) n.206A>C c.803A>C (p.Gln268Pro) c.785A>C (p.Gln262Pro) c.683A>C (p.Gln228Pro) c.863A>C (p.Gln288Pro) c.965A>C (p.Gln322Pro) c.905A>C (p.Gln302Pro) n.4416T>G c.788A>C (p.Gln263Pro) c.806A>C (p.Gln269Pro) c.563A>C (p.Gln188Pro) c.596A>C (p.Gln199Pro) c.614A>C (p.Gln205Pro) | |
2 | g.127426169A>G | CA348401438 | PROC | c.620A>G (p.Gln207Arg) c.121-2188A>G c.722A>G (p.Gln241Arg) n.206A>G c.803A>G (p.Gln268Arg) c.785A>G (p.Gln262Arg) c.683A>G (p.Gln228Arg) c.863A>G (p.Gln288Arg) c.965A>G (p.Gln322Arg) c.905A>G (p.Gln302Arg) n.4416T>C c.788A>G (p.Gln263Arg) c.806A>G (p.Gln269Arg) c.563A>G (p.Gln188Arg) c.596A>G (p.Gln199Arg) c.614A>G (p.Gln205Arg) | |
2 | g.127426169A>T | CA348401439 | PROC | c.620A>T (p.Gln207Leu) c.121-2188A>T c.722A>T (p.Gln241Leu) n.206A>T c.803A>T (p.Gln268Leu) c.785A>T (p.Gln262Leu) c.683A>T (p.Gln228Leu) c.863A>T (p.Gln288Leu) c.965A>T (p.Gln322Leu) c.905A>T (p.Gln302Leu) n.4416T>A c.788A>T (p.Gln263Leu) c.806A>T (p.Gln269Leu) c.563A>T (p.Gln188Leu) c.596A>T (p.Gln199Leu) c.614A>T (p.Gln205Leu) | |
2 | g.127426170A= | CA1286883433 | PROC | c.621A= (p.Gln207=) c.121-2187A= c.723A= (p.Gln241=) n.207A= c.804A= (p.Gln268=) c.786A= (p.Gln262=) c.684A= (p.Gln228=) c.864A= (p.Gln288=) c.966A= (p.Gln322=) c.906A= (p.Gln302=) n.4415T= c.789A= (p.Gln263=) c.807A= (p.Gln269=) c.564A= (p.Gln188=) c.597A= (p.Gln199=) c.615A= (p.Gln205=) | |
2 | g.127426170A>C | CA348401445 | PROC | c.621A>C (p.Gln207His) c.121-2187A>C c.723A>C (p.Gln241His) n.207A>C c.804A>C (p.Gln268His) c.786A>C (p.Gln262His) c.684A>C (p.Gln228His) c.864A>C (p.Gln288His) c.966A>C (p.Gln322His) c.906A>C (p.Gln302His) n.4415T>G c.789A>C (p.Gln263His) c.807A>C (p.Gln269His) c.564A>C (p.Gln188His) c.597A>C (p.Gln199His) c.615A>C (p.Gln205His) | |
2 | g.127426170A>G | CA428618296 | PROC | c.621A>G (p.Gln207=) c.121-2187A>G c.723A>G (p.Gln241=) n.207A>G c.804A>G (p.Gln268=) c.786A>G (p.Gln262=) c.684A>G (p.Gln228=) c.864A>G (p.Gln288=) c.966A>G (p.Gln322=) c.906A>G (p.Gln302=) n.4415T>C c.789A>G (p.Gln263=) c.807A>G (p.Gln269=) c.564A>G (p.Gln188=) c.597A>G (p.Gln199=) c.615A>G (p.Gln205=) | dbSNP COSMIC |
2 | g.127426170A>T | CA348401455 | PROC | c.621A>T (p.Gln207His) c.121-2187A>T c.723A>T (p.Gln241His) n.207A>T c.804A>T (p.Gln268His) c.786A>T (p.Gln262His) c.684A>T (p.Gln228His) c.864A>T (p.Gln288His) c.966A>T (p.Gln322His) c.906A>T (p.Gln302His) n.4415T>A c.789A>T (p.Gln263His) c.807A>T (p.Gln269His) c.564A>T (p.Gln188His) c.597A>T (p.Gln199His) c.615A>T (p.Gln205His) | |
2 | g.127426171G>A | CA348401459 | PROC | c.622G>A (p.Val208Ile) c.121-2186G>A c.724G>A (p.Val242Ile) n.208G>A c.805G>A (p.Val269Ile) c.787G>A (p.Val263Ile) c.685G>A (p.Val229Ile) c.865G>A (p.Val289Ile) c.967G>A (p.Val323Ile) c.907G>A (p.Val303Ile) n.4414C>T c.790G>A (p.Val264Ile) c.808G>A (p.Val270Ile) c.565G>A (p.Val189Ile) c.598G>A (p.Val200Ile) c.616G>A (p.Val206Ile) | |
2 | g.127426171G>C | CA348401461 | PROC | c.622G>C (p.Val208Leu) c.121-2186G>C c.724G>C (p.Val242Leu) n.208G>C c.805G>C (p.Val269Leu) c.787G>C (p.Val263Leu) c.685G>C (p.Val229Leu) c.865G>C (p.Val289Leu) c.967G>C (p.Val323Leu) c.907G>C (p.Val303Leu) n.4414C>G c.790G>C (p.Val264Leu) c.808G>C (p.Val270Leu) c.565G>C (p.Val189Leu) c.598G>C (p.Val200Leu) c.616G>C (p.Val206Leu) | |
2 | g.127426171G>T | CA348401463 | PROC | c.622G>T (p.Val208Leu) c.121-2186G>T c.724G>T (p.Val242Leu) n.208G>T c.805G>T (p.Val269Leu) c.787G>T (p.Val263Leu) c.685G>T (p.Val229Leu) c.865G>T (p.Val289Leu) c.967G>T (p.Val323Leu) c.907G>T (p.Val303Leu) n.4414C>A c.790G>T (p.Val264Leu) c.808G>T (p.Val270Leu) c.565G>T (p.Val189Leu) c.598G>T (p.Val200Leu) c.616G>T (p.Val206Leu) | |
2 | g.127426172T>A | CA348401467 | PROC | c.623T>A (p.Val208Glu) c.121-2185T>A c.725T>A (p.Val242Glu) n.209T>A c.806T>A (p.Val269Glu) c.788T>A (p.Val263Glu) c.686T>A (p.Val229Glu) c.866T>A (p.Val289Glu) c.968T>A (p.Val323Glu) c.908T>A (p.Val303Glu) n.4413A>T c.791T>A (p.Val264Glu) c.809T>A (p.Val270Glu) c.566T>A (p.Val189Glu) c.599T>A (p.Val200Glu) c.617T>A (p.Val206Glu) | |
2 | g.127426172T>C | CA55348355 | PROC | c.623T>C (p.Val208Ala) c.121-2185T>C c.725T>C (p.Val242Ala) n.209T>C c.806T>C (p.Val269Ala) c.788T>C (p.Val263Ala) c.686T>C (p.Val229Ala) c.866T>C (p.Val289Ala) c.968T>C (p.Val323Ala) c.908T>C (p.Val303Ala) n.4413A>G c.791T>C (p.Val264Ala) c.809T>C (p.Val270Ala) c.566T>C (p.Val189Ala) c.599T>C (p.Val200Ala) c.617T>C (p.Val206Ala) | dbSNP gnomAD v4 |
2 | g.127426172T>G | CA348401464 | PROC | c.623T>G (p.Val208Gly) c.121-2185T>G c.725T>G (p.Val242Gly) n.209T>G c.806T>G (p.Val269Gly) c.788T>G (p.Val263Gly) c.686T>G (p.Val229Gly) c.866T>G (p.Val289Gly) c.968T>G (p.Val323Gly) c.908T>G (p.Val303Gly) n.4413A>C c.791T>G (p.Val264Gly) c.809T>G (p.Val270Gly) c.566T>G (p.Val189Gly) c.599T>G (p.Val200Gly) c.617T>G (p.Val206Gly) | |
2 | g.127426172T= | CA1286883434 | PROC | c.623T= (p.Val208=) c.121-2185T= c.725T= (p.Val242=) n.209T= c.806T= (p.Val269=) c.788T= (p.Val263=) c.686T= (p.Val229=) c.866T= (p.Val289=) c.968T= (p.Val323=) c.908T= (p.Val303=) n.4413A= c.791T= (p.Val264=) c.809T= (p.Val270=) c.566T= (p.Val189=) c.599T= (p.Val200=) c.617T= (p.Val206=) | |
2 | g.127426173A>C | CA428618298 | PROC | c.624A>C (p.Val208=) c.121-2184A>C c.726A>C (p.Val242=) n.210A>C c.807A>C (p.Val269=) c.789A>C (p.Val263=) c.687A>C (p.Val229=) c.867A>C (p.Val289=) c.969A>C (p.Val323=) c.909A>C (p.Val303=) n.4412T>G c.792A>C (p.Val264=) c.810A>C (p.Val270=) c.567A>C (p.Val189=) c.600A>C (p.Val200=) c.618A>C (p.Val206=) | |
2 | g.127426173A>G | CA428618302 | PROC | c.624A>G (p.Val208=) c.121-2184A>G c.726A>G (p.Val242=) n.210A>G c.807A>G (p.Val269=) c.789A>G (p.Val263=) c.687A>G (p.Val229=) c.867A>G (p.Val289=) c.969A>G (p.Val323=) c.909A>G (p.Val303=) n.4412T>C c.792A>G (p.Val264=) c.810A>G (p.Val270=) c.567A>G (p.Val189=) c.600A>G (p.Val200=) c.618A>G (p.Val206=) | |
2 | g.127426173A>T | CA428618301 | PROC | c.624A>T (p.Val208=) c.121-2184A>T c.726A>T (p.Val242=) n.210A>T c.807A>T (p.Val269=) c.789A>T (p.Val263=) c.687A>T (p.Val229=) c.867A>T (p.Val289=) c.969A>T (p.Val323=) c.909A>T (p.Val303=) n.4412T>A c.792A>T (p.Val264=) c.810A>T (p.Val270=) c.567A>T (p.Val189=) c.600A>T (p.Val200=) c.618A>T (p.Val206=) | gnomAD v4 |
2 | g.127426174G>A | CA348401469 | PROC | c.625G>A (p.Asp209Asn) c.121-2183G>A c.727G>A (p.Asp243Asn) n.211G>A c.808G>A (p.Asp270Asn) c.790G>A (p.Asp264Asn) c.688G>A (p.Asp230Asn) c.868G>A (p.Asp290Asn) c.970G>A (p.Asp324Asn) c.910G>A (p.Asp304Asn) n.4411C>T c.793G>A (p.Asp265Asn) c.811G>A (p.Asp271Asn) c.568G>A (p.Asp190Asn) c.601G>A (p.Asp201Asn) c.619G>A (p.Asp207Asn) | |
2 | g.127426174G>C | CA348401471 | PROC | c.625G>C (p.Asp209His) c.121-2183G>C c.727G>C (p.Asp243His) n.211G>C c.808G>C (p.Asp270His) c.790G>C (p.Asp264His) c.688G>C (p.Asp230His) c.868G>C (p.Asp290His) c.970G>C (p.Asp324His) c.910G>C (p.Asp304His) n.4411C>G c.793G>C (p.Asp265His) c.811G>C (p.Asp271His) c.568G>C (p.Asp190His) c.601G>C (p.Asp201His) c.619G>C (p.Asp207His) | |
2 | g.127426174G>T | CA348401473 | PROC | c.625G>T (p.Asp209Tyr) c.121-2183G>T c.727G>T (p.Asp243Tyr) n.211G>T c.808G>T (p.Asp270Tyr) c.790G>T (p.Asp264Tyr) c.688G>T (p.Asp230Tyr) c.868G>T (p.Asp290Tyr) c.970G>T (p.Asp324Tyr) c.910G>T (p.Asp304Tyr) n.4411C>A c.793G>T (p.Asp265Tyr) c.811G>T (p.Asp271Tyr) c.568G>T (p.Asp190Tyr) c.601G>T (p.Asp201Tyr) c.619G>T (p.Asp207Tyr) | |
2 | g.127426175A>C | CA348401476 | PROC | c.626A>C (p.Asp209Ala) c.121-2182A>C c.728A>C (p.Asp243Ala) n.212A>C c.809A>C (p.Asp270Ala) c.791A>C (p.Asp264Ala) c.689A>C (p.Asp230Ala) c.869A>C (p.Asp290Ala) c.971A>C (p.Asp324Ala) c.911A>C (p.Asp304Ala) n.4410T>G c.794A>C (p.Asp265Ala) c.812A>C (p.Asp271Ala) c.569A>C (p.Asp190Ala) c.602A>C (p.Asp201Ala) c.620A>C (p.Asp207Ala) | |
2 | g.127426175A>G | CA348401477 | PROC | c.626A>G (p.Asp209Gly) c.121-2182A>G c.728A>G (p.Asp243Gly) n.212A>G c.809A>G (p.Asp270Gly) c.791A>G (p.Asp264Gly) c.689A>G (p.Asp230Gly) c.869A>G (p.Asp290Gly) c.971A>G (p.Asp324Gly) c.911A>G (p.Asp304Gly) n.4410T>C c.794A>G (p.Asp265Gly) c.812A>G (p.Asp271Gly) c.569A>G (p.Asp190Gly) c.602A>G (p.Asp201Gly) c.620A>G (p.Asp207Gly) | |
2 | g.127426175A>T | CA348401478 | PROC | c.626A>T (p.Asp209Val) c.121-2182A>T c.728A>T (p.Asp243Val) n.212A>T c.809A>T (p.Asp270Val) c.791A>T (p.Asp264Val) c.689A>T (p.Asp230Val) c.869A>T (p.Asp290Val) c.971A>T (p.Asp324Val) c.911A>T (p.Asp304Val) n.4410T>A c.794A>T (p.Asp265Val) c.812A>T (p.Asp271Val) c.569A>T (p.Asp190Val) c.602A>T (p.Asp201Val) c.620A>T (p.Asp207Val) | |
2 | g.127426176T>A | CA348401479 | PROC | c.627T>A (p.Asp209Glu) c.121-2181T>A c.729T>A (p.Asp243Glu) n.213T>A c.810T>A (p.Asp270Glu) c.792T>A (p.Asp264Glu) c.690T>A (p.Asp230Glu) c.870T>A (p.Asp290Glu) c.972T>A (p.Asp324Glu) c.912T>A (p.Asp304Glu) n.4409A>T c.795T>A (p.Asp265Glu) c.813T>A (p.Asp271Glu) c.570T>A (p.Asp190Glu) c.603T>A (p.Asp201Glu) c.621T>A (p.Asp207Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426176T>C | CA428618307 | PROC | c.627T>C (p.Asp209=) c.121-2181T>C c.729T>C (p.Asp243=) n.213T>C c.810T>C (p.Asp270=) c.792T>C (p.Asp264=) c.690T>C (p.Asp230=) c.870T>C (p.Asp290=) c.972T>C (p.Asp324=) c.912T>C (p.Asp304=) n.4409A>G c.795T>C (p.Asp265=) c.813T>C (p.Asp271=) c.570T>C (p.Asp190=) c.603T>C (p.Asp201=) c.621T>C (p.Asp207=) | dbSNP gnomAD v4 |
2 | g.127426176T>G | CA348401480 | PROC | c.627T>G (p.Asp209Glu) c.121-2181T>G c.729T>G (p.Asp243Glu) n.213T>G c.810T>G (p.Asp270Glu) c.792T>G (p.Asp264Glu) c.690T>G (p.Asp230Glu) c.870T>G (p.Asp290Glu) c.972T>G (p.Asp324Glu) c.912T>G (p.Asp304Glu) n.4409A>C c.795T>G (p.Asp265Glu) c.813T>G (p.Asp271Glu) c.570T>G (p.Asp190Glu) c.603T>G (p.Asp201Glu) c.621T>G (p.Asp207Glu) | |
2 | g.127426176T= | CA1286883436 | PROC | c.627T= (p.Asp209=) c.121-2181T= c.729T= (p.Asp243=) n.213T= c.810T= (p.Asp270=) c.792T= (p.Asp264=) c.690T= (p.Asp230=) c.870T= (p.Asp290=) c.972T= (p.Asp324=) c.912T= (p.Asp304=) n.4409A= c.795T= (p.Asp265=) c.813T= (p.Asp271=) c.570T= (p.Asp190=) c.603T= (p.Asp201=) c.621T= (p.Asp207=) | |
2 | g.127426176_127426177delinsTC | CA1286883435 | PROC | c.627_628delinsTC (p.Asp209=) c.121-2181_121-2180delinsTC c.729_730delinsTC (p.Asp243=) n.213_214delinsTC c.810_811delinsTC (p.Asp270=) c.792_793delinsTC (p.Asp264=) c.690_691delinsTC (p.Asp230=) c.870_871delinsTC (p.Asp290=) c.972_973delinsTC (p.Asp324=) c.912_913delinsTC (p.Asp304=) n.4408_4409delinsGA c.795_796delinsTC (p.Asp265=) c.813_814delinsTC (p.Asp271=) c.570_571delinsTC (p.Asp190=) c.603_604delinsTC (p.Asp201=) c.621_622delinsTC (p.Asp207=) | |
2 | g.127426177C>A | CA348401481 | PROC | c.628C>A (p.Pro210Thr) c.121-2180C>A c.730C>A (p.Pro244Thr) n.214C>A c.811C>A (p.Pro271Thr) c.793C>A (p.Pro265Thr) c.691C>A (p.Pro231Thr) c.871C>A (p.Pro291Thr) c.973C>A (p.Pro325Thr) c.913C>A (p.Pro305Thr) n.4408G>T c.796C>A (p.Pro266Thr) c.814C>A (p.Pro272Thr) c.571C>A (p.Pro191Thr) c.604C>A (p.Pro202Thr) c.622C>A (p.Pro208Thr) | |
2 | g.127426177C= | CA1286883437 | PROC | c.628C= (p.Pro210=) c.121-2180C= c.730C= (p.Pro244=) n.214C= c.811C= (p.Pro271=) c.793C= (p.Pro265=) c.691C= (p.Pro231=) c.871C= (p.Pro291=) c.973C= (p.Pro325=) c.913C= (p.Pro305=) n.4408G= c.796C= (p.Pro266=) c.814C= (p.Pro272=) c.571C= (p.Pro191=) c.604C= (p.Pro202=) c.622C= (p.Pro208=) | |
2 | g.127426177C>G | CA348401483 | PROC | c.628C>G (p.Pro210Ala) c.121-2180C>G c.730C>G (p.Pro244Ala) n.214C>G c.811C>G (p.Pro271Ala) c.793C>G (p.Pro265Ala) c.691C>G (p.Pro231Ala) c.871C>G (p.Pro291Ala) c.973C>G (p.Pro325Ala) c.913C>G (p.Pro305Ala) n.4408G>C c.796C>G (p.Pro266Ala) c.814C>G (p.Pro272Ala) c.571C>G (p.Pro191Ala) c.604C>G (p.Pro202Ala) c.622C>G (p.Pro208Ala) | |
2 | g.127426177C>T | CA348401485 | PROC | c.628C>T (p.Pro210Ser) c.121-2180C>T c.730C>T (p.Pro244Ser) n.214C>T c.811C>T (p.Pro271Ser) c.793C>T (p.Pro265Ser) c.691C>T (p.Pro231Ser) c.871C>T (p.Pro291Ser) c.973C>T (p.Pro325Ser) c.913C>T (p.Pro305Ser) n.4408G>A c.796C>T (p.Pro266Ser) c.814C>T (p.Pro272Ser) c.571C>T (p.Pro191Ser) c.604C>T (p.Pro202Ser) c.622C>T (p.Pro208Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.127426178del | CA1859399 | PROC | c.629del (p.Pro210ArgfsTer8) c.121-2179del c.731del (p.Pro244ArgfsTer8) n.215del c.812del (p.Pro271ArgfsTer8) c.794del (p.Pro265ArgfsTer8) c.692del (p.Pro231ArgfsTer8) c.872del (p.Pro291ArgfsTer8) c.974del (p.Pro325ArgfsTer8) c.914del (p.Pro305ArgfsTer8) n.4408del c.797del (p.Pro266ArgfsTer8) c.815del (p.Pro272ArgfsTer8) c.572del (p.Pro191ArgfsTer8) c.605del (p.Pro202ArgfsTer8) c.623del (p.Pro208ArgfsTer8) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426178C>A | CA348401489 | PROC | c.629C>A (p.Pro210Gln) c.121-2179C>A c.731C>A (p.Pro244Gln) n.215C>A c.812C>A (p.Pro271Gln) c.794C>A (p.Pro265Gln) c.692C>A (p.Pro231Gln) c.872C>A (p.Pro291Gln) c.974C>A (p.Pro325Gln) c.914C>A (p.Pro305Gln) n.4407G>T c.797C>A (p.Pro266Gln) c.815C>A (p.Pro272Gln) c.572C>A (p.Pro191Gln) c.605C>A (p.Pro202Gln) c.623C>A (p.Pro208Gln) | |
2 | g.127426178C= | CA1286883438 | PROC | c.629C= (p.Pro210=) c.121-2179C= c.731C= (p.Pro244=) n.215C= c.812C= (p.Pro271=) c.794C= (p.Pro265=) c.692C= (p.Pro231=) c.872C= (p.Pro291=) c.974C= (p.Pro325=) c.914C= (p.Pro305=) n.4407G= c.797C= (p.Pro266=) c.815C= (p.Pro272=) c.572C= (p.Pro191=) c.605C= (p.Pro202=) c.623C= (p.Pro208=) | |
2 | g.127426178C>G | CA348401488 | PROC | c.629C>G (p.Pro210Arg) c.121-2179C>G c.731C>G (p.Pro244Arg) n.215C>G c.812C>G (p.Pro271Arg) c.794C>G (p.Pro265Arg) c.692C>G (p.Pro231Arg) c.872C>G (p.Pro291Arg) c.974C>G (p.Pro325Arg) c.914C>G (p.Pro305Arg) n.4407G>C c.797C>G (p.Pro266Arg) c.815C>G (p.Pro272Arg) c.572C>G (p.Pro191Arg) c.605C>G (p.Pro202Arg) c.623C>G (p.Pro208Arg) | |
2 | g.127426178C>T | CA114394 | PROC | c.629C>T (p.Pro210Leu) c.121-2179C>T c.731C>T (p.Pro244Leu) n.215C>T c.812C>T (p.Pro271Leu) c.794C>T (p.Pro265Leu) c.692C>T (p.Pro231Leu) c.872C>T (p.Pro291Leu) c.974C>T (p.Pro325Leu) c.914C>T (p.Pro305Leu) n.4407G>A c.797C>T (p.Pro266Leu) c.815C>T (p.Pro272Leu) c.572C>T (p.Pro191Leu) c.605C>T (p.Pro202Leu) c.623C>T (p.Pro208Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127426179G>A | CA1859400 | PROC | c.630G>A (p.Pro210=) c.121-2178G>A c.732G>A (p.Pro244=) n.216G>A c.813G>A (p.Pro271=) c.795G>A (p.Pro265=) c.693G>A (p.Pro231=) c.873G>A (p.Pro291=) c.975G>A (p.Pro325=) c.915G>A (p.Pro305=) n.4406C>T c.798G>A (p.Pro266=) c.816G>A (p.Pro272=) c.573G>A (p.Pro191=) c.606G>A (p.Pro202=) c.624G>A (p.Pro208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426179G>C | CA428618313 | PROC | c.630G>C (p.Pro210=) c.121-2178G>C c.732G>C (p.Pro244=) n.216G>C c.813G>C (p.Pro271=) c.795G>C (p.Pro265=) c.693G>C (p.Pro231=) c.873G>C (p.Pro291=) c.975G>C (p.Pro325=) c.915G>C (p.Pro305=) n.4406C>G c.798G>C (p.Pro266=) c.816G>C (p.Pro272=) c.573G>C (p.Pro191=) c.606G>C (p.Pro202=) c.624G>C (p.Pro208=) | |
2 | g.127426179G= | CA1286883439 | PROC | c.630G= (p.Pro210=) c.121-2178G= c.732G= (p.Pro244=) n.216G= c.813G= (p.Pro271=) c.795G= (p.Pro265=) c.693G= (p.Pro231=) c.873G= (p.Pro291=) c.975G= (p.Pro325=) c.915G= (p.Pro305=) n.4406C= c.798G= (p.Pro266=) c.816G= (p.Pro272=) c.573G= (p.Pro191=) c.606G= (p.Pro202=) c.624G= (p.Pro208=) | |
2 | g.127426179G>T | CA428618311 | PROC | c.630G>T (p.Pro210=) c.121-2178G>T c.732G>T (p.Pro244=) n.216G>T c.813G>T (p.Pro271=) c.795G>T (p.Pro265=) c.693G>T (p.Pro231=) c.873G>T (p.Pro291=) c.975G>T (p.Pro325=) c.915G>T (p.Pro305=) n.4406C>A c.798G>T (p.Pro266=) c.816G>T (p.Pro272=) c.573G>T (p.Pro191=) c.606G>T (p.Pro202=) c.624G>T (p.Pro208=) | |
2 | g.127426180C>A | CA1859401 | PROC | c.631C>A (p.Arg211=) c.121-2177C>A c.733C>A (p.Arg245=) n.217C>A c.814C>A (p.Arg272=) c.796C>A (p.Arg266=) c.694C>A (p.Arg232=) c.874C>A (p.Arg292=) c.976C>A (p.Arg326=) c.916C>A (p.Arg306=) n.4405G>T c.799C>A (p.Arg267=) c.817C>A (p.Arg273=) c.574C>A (p.Arg192=) c.607C>A (p.Arg203=) c.625C>A (p.Arg209=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426180C= | CA1286883440 | PROC | c.631C= (p.Arg211=) c.121-2177C= c.733C= (p.Arg245=) n.217C= c.814C= (p.Arg272=) c.796C= (p.Arg266=) c.694C= (p.Arg232=) c.874C= (p.Arg292=) c.976C= (p.Arg326=) c.916C= (p.Arg306=) n.4405G= c.799C= (p.Arg267=) c.817C= (p.Arg273=) c.574C= (p.Arg192=) c.607C= (p.Arg203=) c.625C= (p.Arg209=) | |
2 | g.127426180C>G | CA348401493 | PROC | c.631C>G (p.Arg211Gly) c.121-2177C>G c.733C>G (p.Arg245Gly) n.217C>G c.814C>G (p.Arg272Gly) c.796C>G (p.Arg266Gly) c.694C>G (p.Arg232Gly) c.874C>G (p.Arg292Gly) c.976C>G (p.Arg326Gly) c.916C>G (p.Arg306Gly) n.4405G>C c.799C>G (p.Arg267Gly) c.817C>G (p.Arg273Gly) c.574C>G (p.Arg192Gly) c.607C>G (p.Arg203Gly) c.625C>G (p.Arg209Gly) | |
2 | g.127426180C>T | CA114389 | PROC | c.631C>T (p.Arg211Trp) c.121-2177C>T c.733C>T (p.Arg245Trp) n.217C>T c.814C>T (p.Arg272Trp) c.796C>T (p.Arg266Trp) c.694C>T (p.Arg232Trp) c.874C>T (p.Arg292Trp) c.976C>T (p.Arg326Trp) c.916C>T (p.Arg306Trp) n.4405G>A c.799C>T (p.Arg267Trp) c.817C>T (p.Arg273Trp) c.574C>T (p.Arg192Trp) c.607C>T (p.Arg203Trp) c.625C>T (p.Arg209Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426181G>A | CA55348396 | PROC | c.632G>A (p.Arg211Gln) c.121-2176G>A c.734G>A (p.Arg245Gln) n.218G>A c.815G>A (p.Arg272Gln) c.797G>A (p.Arg266Gln) c.695G>A (p.Arg232Gln) c.875G>A (p.Arg292Gln) c.977G>A (p.Arg326Gln) c.917G>A (p.Arg306Gln) n.4404C>T c.800G>A (p.Arg267Gln) c.818G>A (p.Arg273Gln) c.575G>A (p.Arg192Gln) c.608G>A (p.Arg203Gln) c.626G>A (p.Arg209Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.127426181G>C | CA348401494 | PROC | c.632G>C (p.Arg211Pro) c.121-2176G>C c.734G>C (p.Arg245Pro) n.218G>C c.815G>C (p.Arg272Pro) c.797G>C (p.Arg266Pro) c.695G>C (p.Arg232Pro) c.875G>C (p.Arg292Pro) c.977G>C (p.Arg326Pro) c.917G>C (p.Arg306Pro) n.4404C>G c.800G>C (p.Arg267Pro) c.818G>C (p.Arg273Pro) c.575G>C (p.Arg192Pro) c.608G>C (p.Arg203Pro) c.626G>C (p.Arg209Pro) | |
2 | g.127426181G= | CA1286883441 | PROC | c.632G= (p.Arg211=) c.121-2176G= c.734G= (p.Arg245=) n.218G= c.815G= (p.Arg272=) c.797G= (p.Arg266=) c.695G= (p.Arg232=) c.875G= (p.Arg292=) c.977G= (p.Arg326=) c.917G= (p.Arg306=) n.4404C= c.800G= (p.Arg267=) c.818G= (p.Arg273=) c.575G= (p.Arg192=) c.608G= (p.Arg203=) c.626G= (p.Arg209=) | |
2 | g.127426181G>T | CA348401495 | PROC | c.632G>T (p.Arg211Leu) c.121-2176G>T c.734G>T (p.Arg245Leu) n.218G>T c.815G>T (p.Arg272Leu) c.797G>T (p.Arg266Leu) c.695G>T (p.Arg232Leu) c.875G>T (p.Arg292Leu) c.977G>T (p.Arg326Leu) c.917G>T (p.Arg306Leu) n.4404C>A c.800G>T (p.Arg267Leu) c.818G>T (p.Arg273Leu) c.575G>T (p.Arg192Leu) c.608G>T (p.Arg203Leu) c.626G>T (p.Arg209Leu) | ClinVar dbSNP |
2 | g.127426182G>A | CA428618316 | PROC | c.633G>A (p.Arg211=) c.121-2175G>A c.735G>A (p.Arg245=) n.219G>A c.816G>A (p.Arg272=) c.798G>A (p.Arg266=) c.696G>A (p.Arg232=) c.876G>A (p.Arg292=) c.978G>A (p.Arg326=) c.918G>A (p.Arg306=) n.4403C>T c.801G>A (p.Arg267=) c.819G>A (p.Arg273=) c.576G>A (p.Arg192=) c.609G>A (p.Arg203=) c.627G>A (p.Arg209=) | gnomAD v4 |
2 | g.127426182G>C | CA428618317 | PROC | c.633G>C (p.Arg211=) c.121-2175G>C c.735G>C (p.Arg245=) n.219G>C c.816G>C (p.Arg272=) c.798G>C (p.Arg266=) c.696G>C (p.Arg232=) c.876G>C (p.Arg292=) c.978G>C (p.Arg326=) c.918G>C (p.Arg306=) n.4403C>G c.801G>C (p.Arg267=) c.819G>C (p.Arg273=) c.576G>C (p.Arg192=) c.609G>C (p.Arg203=) c.627G>C (p.Arg209=) | |
2 | g.127426182G>T | CA428618318 | PROC | c.633G>T (p.Arg211=) c.121-2175G>T c.735G>T (p.Arg245=) n.219G>T c.816G>T (p.Arg272=) c.798G>T (p.Arg266=) c.696G>T (p.Arg232=) c.876G>T (p.Arg292=) c.978G>T (p.Arg326=) c.918G>T (p.Arg306=) n.4403C>A c.801G>T (p.Arg267=) c.819G>T (p.Arg273=) c.576G>T (p.Arg192=) c.609G>T (p.Arg203=) c.627G>T (p.Arg209=) | |
2 | g.127426182_127426183del | CA915940561 | PROC | c.633_634del (p.Leu212HisfsTer2) c.121-2175_121-2174del c.735_736del (p.Leu246HisfsTer2) n.219_220del c.816_817del (p.Leu273HisfsTer2) c.798_799del (p.Leu267HisfsTer2) c.696_697del (p.Leu233HisfsTer2) c.876_877del (p.Leu293HisfsTer2) c.978_979del (p.Leu327HisfsTer2) c.918_919del (p.Leu307HisfsTer2) n.4402_4403del c.801_802del (p.Leu268HisfsTer2) c.819_820del (p.Leu274HisfsTer2) c.576_577del (p.Leu193HisfsTer2) c.609_610del (p.Leu204HisfsTer2) c.627_628del (p.Leu210HisfsTer2) | |
2 | g.127426183C>A | CA348401497 | PROC | c.634C>A (p.Leu212Ile) c.121-2174C>A c.736C>A (p.Leu246Ile) n.220C>A c.817C>A (p.Leu273Ile) c.799C>A (p.Leu267Ile) c.697C>A (p.Leu233Ile) c.877C>A (p.Leu293Ile) c.979C>A (p.Leu327Ile) c.919C>A (p.Leu307Ile) n.4402G>T c.802C>A (p.Leu268Ile) c.820C>A (p.Leu274Ile) c.577C>A (p.Leu193Ile) c.610C>A (p.Leu204Ile) c.628C>A (p.Leu210Ile) | |
2 | g.127426183C= | CA1286883442 | PROC | c.634C= (p.Leu212=) c.121-2174C= c.736C= (p.Leu246=) n.220C= c.817C= (p.Leu273=) c.799C= (p.Leu267=) c.697C= (p.Leu233=) c.877C= (p.Leu293=) c.979C= (p.Leu327=) c.919C= (p.Leu307=) n.4402G= c.802C= (p.Leu268=) c.820C= (p.Leu274=) c.577C= (p.Leu193=) c.610C= (p.Leu204=) c.628C= (p.Leu210=) | |
2 | g.127426183C>G | CA348401500 | PROC | c.634C>G (p.Leu212Val) c.121-2174C>G c.736C>G (p.Leu246Val) n.220C>G c.817C>G (p.Leu273Val) c.799C>G (p.Leu267Val) c.697C>G (p.Leu233Val) c.877C>G (p.Leu293Val) c.979C>G (p.Leu327Val) c.919C>G (p.Leu307Val) n.4402G>C c.802C>G (p.Leu268Val) c.820C>G (p.Leu274Val) c.577C>G (p.Leu193Val) c.610C>G (p.Leu204Val) c.628C>G (p.Leu210Val) | |
2 | g.127426183C>T | CA348401501 | PROC | c.634C>T (p.Leu212Phe) c.121-2174C>T c.736C>T (p.Leu246Phe) n.220C>T c.817C>T (p.Leu273Phe) c.799C>T (p.Leu267Phe) c.697C>T (p.Leu233Phe) c.877C>T (p.Leu293Phe) c.979C>T (p.Leu327Phe) c.919C>T (p.Leu307Phe) n.4402G>A c.802C>T (p.Leu268Phe) c.820C>T (p.Leu274Phe) c.577C>T (p.Leu193Phe) c.610C>T (p.Leu204Phe) c.628C>T (p.Leu210Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426184T>A | CA348401503 | PROC | c.635T>A (p.Leu212His) c.121-2173T>A c.737T>A (p.Leu246His) n.221T>A c.818T>A (p.Leu273His) c.800T>A (p.Leu267His) c.698T>A (p.Leu233His) c.878T>A (p.Leu293His) c.980T>A (p.Leu327His) c.920T>A (p.Leu307His) n.4401A>T c.803T>A (p.Leu268His) c.821T>A (p.Leu274His) c.578T>A (p.Leu193His) c.611T>A (p.Leu204His) c.629T>A (p.Leu210His) | |
2 | g.127426184T>C | CA348401504 | PROC | c.635T>C (p.Leu212Pro) c.121-2173T>C c.737T>C (p.Leu246Pro) n.221T>C c.818T>C (p.Leu273Pro) c.800T>C (p.Leu267Pro) c.698T>C (p.Leu233Pro) c.878T>C (p.Leu293Pro) c.980T>C (p.Leu327Pro) c.920T>C (p.Leu307Pro) n.4401A>G c.803T>C (p.Leu268Pro) c.821T>C (p.Leu274Pro) c.578T>C (p.Leu193Pro) c.611T>C (p.Leu204Pro) c.629T>C (p.Leu210Pro) | ClinVar |
2 | g.127426184T>G | CA348401510 | PROC | c.635T>G (p.Leu212Arg) c.121-2173T>G c.737T>G (p.Leu246Arg) n.221T>G c.818T>G (p.Leu273Arg) c.800T>G (p.Leu267Arg) c.698T>G (p.Leu233Arg) c.878T>G (p.Leu293Arg) c.980T>G (p.Leu327Arg) c.920T>G (p.Leu307Arg) n.4401A>C c.803T>G (p.Leu268Arg) c.821T>G (p.Leu274Arg) c.578T>G (p.Leu193Arg) c.611T>G (p.Leu204Arg) c.629T>G (p.Leu210Arg) | |
2 | g.127426185C>A | CA428618321 | PROC | c.636C>A (p.Leu212=) c.121-2172C>A c.738C>A (p.Leu246=) n.222C>A c.819C>A (p.Leu273=) c.801C>A (p.Leu267=) c.699C>A (p.Leu233=) c.879C>A (p.Leu293=) c.981C>A (p.Leu327=) c.921C>A (p.Leu307=) n.4400G>T c.804C>A (p.Leu268=) c.822C>A (p.Leu274=) c.579C>A (p.Leu193=) c.612C>A (p.Leu204=) c.630C>A (p.Leu210=) | |
2 | g.127426185C= | CA1286883443 | PROC | c.636C= (p.Leu212=) c.121-2172C= c.738C= (p.Leu246=) n.222C= c.819C= (p.Leu273=) c.801C= (p.Leu267=) c.699C= (p.Leu233=) c.879C= (p.Leu293=) c.981C= (p.Leu327=) c.921C= (p.Leu307=) n.4400G= c.804C= (p.Leu268=) c.822C= (p.Leu274=) c.579C= (p.Leu193=) c.612C= (p.Leu204=) c.630C= (p.Leu210=) | |
2 | g.127426185C>G | CA428618322 | PROC | c.636C>G (p.Leu212=) c.121-2172C>G c.738C>G (p.Leu246=) n.222C>G c.819C>G (p.Leu273=) c.801C>G (p.Leu267=) c.699C>G (p.Leu233=) c.879C>G (p.Leu293=) c.981C>G (p.Leu327=) c.921C>G (p.Leu307=) n.4400G>C c.804C>G (p.Leu268=) c.822C>G (p.Leu274=) c.579C>G (p.Leu193=) c.612C>G (p.Leu204=) c.630C>G (p.Leu210=) | |
2 | g.127426185C>T | CA428618324 | PROC | c.636C>T (p.Leu212=) c.121-2172C>T c.738C>T (p.Leu246=) n.222C>T c.819C>T (p.Leu273=) c.801C>T (p.Leu267=) c.699C>T (p.Leu233=) c.879C>T (p.Leu293=) c.981C>T (p.Leu327=) c.921C>T (p.Leu307=) n.4400G>A c.804C>T (p.Leu268=) c.822C>T (p.Leu274=) c.579C>T (p.Leu193=) c.612C>T (p.Leu204=) c.630C>T (p.Leu210=) | dbSNP gnomAD v4 |
2 | g.127426186A>C | CA348401511 | PROC | c.637A>C (p.Ile213Leu) c.121-2171A>C c.739A>C (p.Ile247Leu) n.223A>C c.820A>C (p.Ile274Leu) c.802A>C (p.Ile268Leu) c.700A>C (p.Ile234Leu) c.880A>C (p.Ile294Leu) c.982A>C (p.Ile328Leu) c.922A>C (p.Ile308Leu) n.4399T>G c.805A>C (p.Ile269Leu) c.823A>C (p.Ile275Leu) c.580A>C (p.Ile194Leu) c.613A>C (p.Ile205Leu) c.631A>C (p.Ile211Leu) | |
2 | g.127426186A>G | CA348401513 | PROC | c.637A>G (p.Ile213Val) c.121-2171A>G c.739A>G (p.Ile247Val) n.223A>G c.820A>G (p.Ile274Val) c.802A>G (p.Ile268Val) c.700A>G (p.Ile234Val) c.880A>G (p.Ile294Val) c.982A>G (p.Ile328Val) c.922A>G (p.Ile308Val) n.4399T>C c.805A>G (p.Ile269Val) c.823A>G (p.Ile275Val) c.580A>G (p.Ile194Val) c.613A>G (p.Ile205Val) c.631A>G (p.Ile211Val) | |
2 | g.127426186A>T | CA348401512 | PROC | c.637A>T (p.Ile213Phe) c.121-2171A>T c.739A>T (p.Ile247Phe) n.223A>T c.820A>T (p.Ile274Phe) c.802A>T (p.Ile268Phe) c.700A>T (p.Ile234Phe) c.880A>T (p.Ile294Phe) c.982A>T (p.Ile328Phe) c.922A>T (p.Ile308Phe) n.4399T>A c.805A>T (p.Ile269Phe) c.823A>T (p.Ile275Phe) c.580A>T (p.Ile194Phe) c.613A>T (p.Ile205Phe) c.631A>T (p.Ile211Phe) | |
2 | g.127426187T>A | CA348401516 | PROC | c.638T>A (p.Ile213Asn) c.121-2170T>A c.740T>A (p.Ile247Asn) n.224T>A c.821T>A (p.Ile274Asn) c.803T>A (p.Ile268Asn) c.701T>A (p.Ile234Asn) c.881T>A (p.Ile294Asn) c.983T>A (p.Ile328Asn) c.923T>A (p.Ile308Asn) n.4398A>T c.806T>A (p.Ile269Asn) c.824T>A (p.Ile275Asn) c.581T>A (p.Ile194Asn) c.614T>A (p.Ile205Asn) c.632T>A (p.Ile211Asn) | |
2 | g.127426187T>C | CA1859402 | PROC | c.638T>C (p.Ile213Thr) c.121-2170T>C c.740T>C (p.Ile247Thr) n.224T>C c.821T>C (p.Ile274Thr) c.803T>C (p.Ile268Thr) c.701T>C (p.Ile234Thr) c.881T>C (p.Ile294Thr) c.983T>C (p.Ile328Thr) c.923T>C (p.Ile308Thr) n.4398A>G c.806T>C (p.Ile269Thr) c.824T>C (p.Ile275Thr) c.581T>C (p.Ile194Thr) c.614T>C (p.Ile205Thr) c.632T>C (p.Ile211Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426187T>G | CA348401517 | PROC | c.638T>G (p.Ile213Ser) c.121-2170T>G c.740T>G (p.Ile247Ser) n.224T>G c.821T>G (p.Ile274Ser) c.803T>G (p.Ile268Ser) c.701T>G (p.Ile234Ser) c.881T>G (p.Ile294Ser) c.983T>G (p.Ile328Ser) c.923T>G (p.Ile308Ser) n.4398A>C c.806T>G (p.Ile269Ser) c.824T>G (p.Ile275Ser) c.581T>G (p.Ile194Ser) c.614T>G (p.Ile205Ser) c.632T>G (p.Ile211Ser) | |
2 | g.127426187T= | CA1286883444 | PROC | c.638T= (p.Ile213=) c.121-2170T= c.740T= (p.Ile247=) n.224T= c.821T= (p.Ile274=) c.803T= (p.Ile268=) c.701T= (p.Ile234=) c.881T= (p.Ile294=) c.983T= (p.Ile328=) c.923T= (p.Ile308=) n.4398A= c.806T= (p.Ile269=) c.824T= (p.Ile275=) c.581T= (p.Ile194=) c.614T= (p.Ile205=) c.632T= (p.Ile211=) | |
2 | g.127426188T>A | CA428618328 | PROC | c.639T>A (p.Ile213=) c.121-2169T>A c.741T>A (p.Ile247=) n.225T>A c.822T>A (p.Ile274=) c.804T>A (p.Ile268=) c.702T>A (p.Ile234=) c.882T>A (p.Ile294=) c.984T>A (p.Ile328=) c.924T>A (p.Ile308=) n.4397A>T c.807T>A (p.Ile269=) c.825T>A (p.Ile275=) c.582T>A (p.Ile194=) c.615T>A (p.Ile205=) c.633T>A (p.Ile211=) | |
2 | g.127426188T>C | CA428618327 | PROC | c.639T>C (p.Ile213=) c.121-2169T>C c.741T>C (p.Ile247=) n.225T>C c.822T>C (p.Ile274=) c.804T>C (p.Ile268=) c.702T>C (p.Ile234=) c.882T>C (p.Ile294=) c.984T>C (p.Ile328=) c.924T>C (p.Ile308=) n.4397A>G c.807T>C (p.Ile269=) c.825T>C (p.Ile275=) c.582T>C (p.Ile194=) c.615T>C (p.Ile205=) c.633T>C (p.Ile211=) | |
2 | g.127426188T>G | CA348401521 | PROC | c.639T>G (p.Ile213Met) c.121-2169T>G c.741T>G (p.Ile247Met) n.225T>G c.822T>G (p.Ile274Met) c.804T>G (p.Ile268Met) c.702T>G (p.Ile234Met) c.882T>G (p.Ile294Met) c.984T>G (p.Ile328Met) c.924T>G (p.Ile308Met) n.4397A>C c.807T>G (p.Ile269Met) c.825T>G (p.Ile275Met) c.582T>G (p.Ile194Met) c.615T>G (p.Ile205Met) c.633T>G (p.Ile211Met) | |
2 | g.127426189G>A | CA348401522 | PROC | c.640G>A (p.Asp214Asn) c.121-2168G>A c.742G>A (p.Asp248Asn) n.226G>A c.823G>A (p.Asp275Asn) c.805G>A (p.Asp269Asn) c.703G>A (p.Asp235Asn) c.883G>A (p.Asp295Asn) c.985G>A (p.Asp329Asn) c.925G>A (p.Asp309Asn) n.4396C>T c.808G>A (p.Asp270Asn) c.826G>A (p.Asp276Asn) c.583G>A (p.Asp195Asn) c.616G>A (p.Asp206Asn) c.634G>A (p.Asp212Asn) | gnomAD v4 |
2 | g.127426189G>C | CA348401523 | PROC | c.640G>C (p.Asp214His) c.121-2168G>C c.742G>C (p.Asp248His) n.226G>C c.823G>C (p.Asp275His) c.805G>C (p.Asp269His) c.703G>C (p.Asp235His) c.883G>C (p.Asp295His) c.985G>C (p.Asp329His) c.925G>C (p.Asp309His) n.4396C>G c.808G>C (p.Asp270His) c.826G>C (p.Asp276His) c.583G>C (p.Asp195His) c.616G>C (p.Asp206His) c.634G>C (p.Asp212His) | |
2 | g.127426189G>T | CA348401524 | PROC | c.640G>T (p.Asp214Tyr) c.121-2168G>T c.742G>T (p.Asp248Tyr) n.226G>T c.823G>T (p.Asp275Tyr) c.805G>T (p.Asp269Tyr) c.703G>T (p.Asp235Tyr) c.883G>T (p.Asp295Tyr) c.985G>T (p.Asp329Tyr) c.925G>T (p.Asp309Tyr) n.4396C>A c.808G>T (p.Asp270Tyr) c.826G>T (p.Asp276Tyr) c.583G>T (p.Asp195Tyr) c.616G>T (p.Asp206Tyr) c.634G>T (p.Asp212Tyr) | |
2 | g.127426190A>C | CA348401526 | PROC | c.641A>C (p.Asp214Ala) c.121-2167A>C c.743A>C (p.Asp248Ala) n.227A>C c.824A>C (p.Asp275Ala) c.806A>C (p.Asp269Ala) c.704A>C (p.Asp235Ala) c.884A>C (p.Asp295Ala) c.986A>C (p.Asp329Ala) c.926A>C (p.Asp309Ala) n.4395T>G c.809A>C (p.Asp270Ala) c.827A>C (p.Asp276Ala) c.584A>C (p.Asp195Ala) c.617A>C (p.Asp206Ala) c.635A>C (p.Asp212Ala) | gnomAD v4 |
2 | g.127426190A>G | CA348401527 | PROC | c.641A>G (p.Asp214Gly) c.121-2167A>G c.743A>G (p.Asp248Gly) n.227A>G c.824A>G (p.Asp275Gly) c.806A>G (p.Asp269Gly) c.704A>G (p.Asp235Gly) c.884A>G (p.Asp295Gly) c.986A>G (p.Asp329Gly) c.926A>G (p.Asp309Gly) n.4395T>C c.809A>G (p.Asp270Gly) c.827A>G (p.Asp276Gly) c.584A>G (p.Asp195Gly) c.617A>G (p.Asp206Gly) c.635A>G (p.Asp212Gly) | |
2 | g.127426190A>T | CA348401529 | PROC | c.641A>T (p.Asp214Val) c.121-2167A>T c.743A>T (p.Asp248Val) n.227A>T c.824A>T (p.Asp275Val) c.806A>T (p.Asp269Val) c.704A>T (p.Asp235Val) c.884A>T (p.Asp295Val) c.986A>T (p.Asp329Val) c.926A>T (p.Asp309Val) n.4395T>A c.809A>T (p.Asp270Val) c.827A>T (p.Asp276Val) c.584A>T (p.Asp195Val) c.617A>T (p.Asp206Val) c.635A>T (p.Asp212Val) | |
2 | g.127426191T>A | CA348401536 | PROC | c.642T>A (p.Asp214Glu) c.121-2166T>A c.744T>A (p.Asp248Glu) n.228T>A c.825T>A (p.Asp275Glu) c.807T>A (p.Asp269Glu) c.705T>A (p.Asp235Glu) c.885T>A (p.Asp295Glu) c.987T>A (p.Asp329Glu) c.927T>A (p.Asp309Glu) n.4394A>T c.810T>A (p.Asp270Glu) c.828T>A (p.Asp276Glu) c.585T>A (p.Asp195Glu) c.618T>A (p.Asp206Glu) c.636T>A (p.Asp212Glu) | |
2 | g.127426191T>C | CA1859403 | PROC | c.642T>C (p.Asp214=) c.121-2166T>C c.744T>C (p.Asp248=) n.228T>C c.825T>C (p.Asp275=) c.807T>C (p.Asp269=) c.705T>C (p.Asp235=) c.885T>C (p.Asp295=) c.987T>C (p.Asp329=) c.927T>C (p.Asp309=) n.4394A>G c.810T>C (p.Asp270=) c.828T>C (p.Asp276=) c.585T>C (p.Asp195=) c.618T>C (p.Asp206=) c.636T>C (p.Asp212=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426191T>G | CA348401531 | PROC | c.642T>G (p.Asp214Glu) c.121-2166T>G c.744T>G (p.Asp248Glu) n.228T>G c.825T>G (p.Asp275Glu) c.807T>G (p.Asp269Glu) c.705T>G (p.Asp235Glu) c.885T>G (p.Asp295Glu) c.987T>G (p.Asp329Glu) c.927T>G (p.Asp309Glu) n.4394A>C c.810T>G (p.Asp270Glu) c.828T>G (p.Asp276Glu) c.585T>G (p.Asp195Glu) c.618T>G (p.Asp206Glu) c.636T>G (p.Asp212Glu) | |
2 | g.127426191T= | CA1286883445 | PROC | c.642T= (p.Asp214=) c.121-2166T= c.744T= (p.Asp248=) n.228T= c.825T= (p.Asp275=) c.807T= (p.Asp269=) c.705T= (p.Asp235=) c.885T= (p.Asp295=) c.987T= (p.Asp329=) c.927T= (p.Asp309=) n.4394A= c.810T= (p.Asp270=) c.828T= (p.Asp276=) c.585T= (p.Asp195=) c.618T= (p.Asp206=) c.636T= (p.Asp212=) | |
2 | g.127426192G>A | CA348401541 | PROC | c.643G>A (p.Gly215Arg) c.121-2165G>A c.745G>A (p.Gly249Arg) n.229G>A c.826G>A (p.Gly276Arg) c.808G>A (p.Gly270Arg) c.706G>A (p.Gly236Arg) c.886G>A (p.Gly296Arg) c.988G>A (p.Gly330Arg) c.928G>A (p.Gly310Arg) n.4393C>T c.811G>A (p.Gly271Arg) c.829G>A (p.Gly277Arg) c.586G>A (p.Gly196Arg) c.619G>A (p.Gly207Arg) c.637G>A (p.Gly213Arg) | gnomAD v4 |
2 | g.127426192G>C | CA348401544 | PROC | c.643G>C (p.Gly215Arg) c.121-2165G>C c.745G>C (p.Gly249Arg) n.229G>C c.826G>C (p.Gly276Arg) c.808G>C (p.Gly270Arg) c.706G>C (p.Gly236Arg) c.886G>C (p.Gly296Arg) c.988G>C (p.Gly330Arg) c.928G>C (p.Gly310Arg) n.4393C>G c.811G>C (p.Gly271Arg) c.829G>C (p.Gly277Arg) c.586G>C (p.Gly196Arg) c.619G>C (p.Gly207Arg) c.637G>C (p.Gly213Arg) | |
2 | g.127426192G>T | CA348401543 | PROC | c.643G>T (p.Gly215Trp) c.121-2165G>T c.745G>T (p.Gly249Trp) n.229G>T c.826G>T (p.Gly276Trp) c.808G>T (p.Gly270Trp) c.706G>T (p.Gly236Trp) c.886G>T (p.Gly296Trp) c.988G>T (p.Gly330Trp) c.928G>T (p.Gly310Trp) n.4393C>A c.811G>T (p.Gly271Trp) c.829G>T (p.Gly277Trp) c.586G>T (p.Gly196Trp) c.619G>T (p.Gly207Trp) c.637G>T (p.Gly213Trp) | |
2 | g.127426193G>A | CA348401547 | PROC | c.644G>A (p.Gly215Glu) c.121-2164G>A c.746G>A (p.Gly249Glu) n.230G>A c.827G>A (p.Gly276Glu) c.809G>A (p.Gly270Glu) c.707G>A (p.Gly236Glu) c.887G>A (p.Gly296Glu) c.989G>A (p.Gly330Glu) c.929G>A (p.Gly310Glu) n.4392C>T c.812G>A (p.Gly271Glu) c.830G>A (p.Gly277Glu) c.587G>A (p.Gly196Glu) c.620G>A (p.Gly207Glu) c.638G>A (p.Gly213Glu) | |
2 | g.127426193G>C | CA348401551 | PROC | c.644G>C (p.Gly215Ala) c.121-2164G>C c.746G>C (p.Gly249Ala) n.230G>C c.827G>C (p.Gly276Ala) c.809G>C (p.Gly270Ala) c.707G>C (p.Gly236Ala) c.887G>C (p.Gly296Ala) c.989G>C (p.Gly330Ala) c.929G>C (p.Gly310Ala) n.4392C>G c.812G>C (p.Gly271Ala) c.830G>C (p.Gly277Ala) c.587G>C (p.Gly196Ala) c.620G>C (p.Gly207Ala) c.638G>C (p.Gly213Ala) | |
2 | g.127426193G>T | CA348401554 | PROC | c.644G>T (p.Gly215Val) c.121-2164G>T c.746G>T (p.Gly249Val) n.230G>T c.827G>T (p.Gly276Val) c.809G>T (p.Gly270Val) c.707G>T (p.Gly236Val) c.887G>T (p.Gly296Val) c.989G>T (p.Gly330Val) c.929G>T (p.Gly310Val) n.4392C>A c.812G>T (p.Gly271Val) c.830G>T (p.Gly277Val) c.587G>T (p.Gly196Val) c.620G>T (p.Gly207Val) c.638G>T (p.Gly213Val) | |
2 | g.127426194G>A | CA428618333 | PROC | c.645G>A (p.Gly215=) c.121-2163G>A c.747G>A (p.Gly249=) n.231G>A c.828G>A (p.Gly276=) c.810G>A (p.Gly270=) c.708G>A (p.Gly236=) c.888G>A (p.Gly296=) c.990G>A (p.Gly330=) c.930G>A (p.Gly310=) n.4391C>T c.813G>A (p.Gly271=) c.831G>A (p.Gly277=) c.588G>A (p.Gly196=) c.621G>A (p.Gly207=) c.639G>A (p.Gly213=) | |
2 | g.127426194G>C | CA428618335 | PROC | c.645G>C (p.Gly215=) c.121-2163G>C c.747G>C (p.Gly249=) n.231G>C c.828G>C (p.Gly276=) c.810G>C (p.Gly270=) c.708G>C (p.Gly236=) c.888G>C (p.Gly296=) c.990G>C (p.Gly330=) c.930G>C (p.Gly310=) n.4391C>G c.813G>C (p.Gly271=) c.831G>C (p.Gly277=) c.588G>C (p.Gly196=) c.621G>C (p.Gly207=) c.639G>C (p.Gly213=) | |
2 | g.127426194G>T | CA428618334 | PROC | c.645G>T (p.Gly215=) c.121-2163G>T c.747G>T (p.Gly249=) n.231G>T c.828G>T (p.Gly276=) c.810G>T (p.Gly270=) c.708G>T (p.Gly236=) c.888G>T (p.Gly296=) c.990G>T (p.Gly330=) c.930G>T (p.Gly310=) n.4391C>A c.813G>T (p.Gly271=) c.831G>T (p.Gly277=) c.588G>T (p.Gly196=) c.621G>T (p.Gly207=) c.639G>T (p.Gly213=) | |
2 | g.127426195A>C | CA348401555 | PROC | c.646A>C (p.Lys216Gln) c.121-2162A>C c.748A>C (p.Lys250Gln) n.232A>C c.829A>C (p.Lys277Gln) c.811A>C (p.Lys271Gln) c.709A>C (p.Lys237Gln) c.889A>C (p.Lys297Gln) c.991A>C (p.Lys331Gln) c.931A>C (p.Lys311Gln) n.4390T>G c.814A>C (p.Lys272Gln) c.832A>C (p.Lys278Gln) c.589A>C (p.Lys197Gln) c.622A>C (p.Lys208Gln) c.640A>C (p.Lys214Gln) | |
2 | g.127426195A>G | CA348401556 | PROC | c.646A>G (p.Lys216Glu) c.121-2162A>G c.748A>G (p.Lys250Glu) n.232A>G c.829A>G (p.Lys277Glu) c.811A>G (p.Lys271Glu) c.709A>G (p.Lys237Glu) c.889A>G (p.Lys297Glu) c.991A>G (p.Lys331Glu) c.931A>G (p.Lys311Glu) n.4390T>C c.814A>G (p.Lys272Glu) c.832A>G (p.Lys278Glu) c.589A>G (p.Lys197Glu) c.622A>G (p.Lys208Glu) c.640A>G (p.Lys214Glu) | |
2 | g.127426195A>T | CA348401557 | PROC | c.646A>T (p.Lys216Ter) c.121-2162A>T c.748A>T (p.Lys250Ter) n.232A>T c.829A>T (p.Lys277Ter) c.811A>T (p.Lys271Ter) c.709A>T (p.Lys237Ter) c.889A>T (p.Lys297Ter) c.991A>T (p.Lys331Ter) c.931A>T (p.Lys311Ter) n.4390T>A c.814A>T (p.Lys272Ter) c.832A>T (p.Lys278Ter) c.589A>T (p.Lys197Ter) c.622A>T (p.Lys208Ter) c.640A>T (p.Lys214Ter) | |
2 | g.127426196A>C | CA348401559 | PROC | c.647A>C (p.Lys216Thr) c.121-2161A>C c.749A>C (p.Lys250Thr) n.233A>C c.830A>C (p.Lys277Thr) c.812A>C (p.Lys271Thr) c.710A>C (p.Lys237Thr) c.890A>C (p.Lys297Thr) c.992A>C (p.Lys331Thr) c.932A>C (p.Lys311Thr) n.4389T>G c.815A>C (p.Lys272Thr) c.833A>C (p.Lys278Thr) c.590A>C (p.Lys197Thr) c.623A>C (p.Lys208Thr) c.641A>C (p.Lys214Thr) | |
2 | g.127426196A>G | CA348401562 | PROC | c.647A>G (p.Lys216Arg) c.121-2161A>G c.749A>G (p.Lys250Arg) n.233A>G c.830A>G (p.Lys277Arg) c.812A>G (p.Lys271Arg) c.710A>G (p.Lys237Arg) c.890A>G (p.Lys297Arg) c.992A>G (p.Lys331Arg) c.932A>G (p.Lys311Arg) n.4389T>C c.815A>G (p.Lys272Arg) c.833A>G (p.Lys278Arg) c.590A>G (p.Lys197Arg) c.623A>G (p.Lys208Arg) c.641A>G (p.Lys214Arg) | |
2 | g.127426196A>T | CA348401564 | PROC | c.647A>T (p.Lys216Met) c.121-2161A>T c.749A>T (p.Lys250Met) n.233A>T c.830A>T (p.Lys277Met) c.812A>T (p.Lys271Met) c.710A>T (p.Lys237Met) c.890A>T (p.Lys297Met) c.992A>T (p.Lys331Met) c.932A>T (p.Lys311Met) n.4389T>A c.815A>T (p.Lys272Met) c.833A>T (p.Lys278Met) c.590A>T (p.Lys197Met) c.623A>T (p.Lys208Met) c.641A>T (p.Lys214Met) | |
2 | g.127426199_127426214del | CA2586969898 | PROC | c.650_665del (p.Met217ThrfsTer28) c.121-2158_121-2143del c.752_767del (p.Met251ThrfsTer28) n.236_251del c.833_848del (p.Met278ThrfsTer28) c.815_830del (p.Met272ThrfsTer28) c.713_728del (p.Met238ThrfsTer28) c.893_908del (p.Met298ThrfsTer28) c.995_1010del (p.Met332ThrfsTer28) c.935_950del (p.Met312ThrfsTer28) n.4374_4389del c.818_833del (p.Met273ThrfsTer28) c.836_851del (p.Met279ThrfsTer28) c.593_608del (p.Met198ThrfsTer28) c.626_641del (p.Met209ThrfsTer28) c.644_659del (p.Met215ThrfsTer28) | |
2 | g.127426197G>A | CA428618337 | PROC | c.648G>A (p.Lys216=) c.121-2160G>A c.750G>A (p.Lys250=) n.234G>A c.831G>A (p.Lys277=) c.813G>A (p.Lys271=) c.711G>A (p.Lys237=) c.891G>A (p.Lys297=) c.993G>A (p.Lys331=) c.933G>A (p.Lys311=) n.4388C>T c.816G>A (p.Lys272=) c.834G>A (p.Lys278=) c.591G>A (p.Lys197=) c.624G>A (p.Lys208=) c.642G>A (p.Lys214=) | |
2 | g.127426197G>C | CA348401566 | PROC | c.648G>C (p.Lys216Asn) c.121-2160G>C c.750G>C (p.Lys250Asn) n.234G>C c.831G>C (p.Lys277Asn) c.813G>C (p.Lys271Asn) c.711G>C (p.Lys237Asn) c.891G>C (p.Lys297Asn) c.993G>C (p.Lys331Asn) c.933G>C (p.Lys311Asn) n.4388C>G c.816G>C (p.Lys272Asn) c.834G>C (p.Lys278Asn) c.591G>C (p.Lys197Asn) c.624G>C (p.Lys208Asn) c.642G>C (p.Lys214Asn) | |
2 | g.127426197G>T | CA348401570 | PROC | c.648G>T (p.Lys216Asn) c.121-2160G>T c.750G>T (p.Lys250Asn) n.234G>T c.831G>T (p.Lys277Asn) c.813G>T (p.Lys271Asn) c.711G>T (p.Lys237Asn) c.891G>T (p.Lys297Asn) c.993G>T (p.Lys331Asn) c.933G>T (p.Lys311Asn) n.4388C>A c.816G>T (p.Lys272Asn) c.834G>T (p.Lys278Asn) c.591G>T (p.Lys197Asn) c.624G>T (p.Lys208Asn) c.642G>T (p.Lys214Asn) | |
2 | g.127426198A>C | CA348401578 | PROC | c.649A>C (p.Met217Leu) c.121-2159A>C c.751A>C (p.Met251Leu) n.235A>C c.832A>C (p.Met278Leu) c.814A>C (p.Met272Leu) c.712A>C (p.Met238Leu) c.892A>C (p.Met298Leu) c.994A>C (p.Met332Leu) c.934A>C (p.Met312Leu) n.4387T>G c.817A>C (p.Met273Leu) c.835A>C (p.Met279Leu) c.592A>C (p.Met198Leu) c.625A>C (p.Met209Leu) c.643A>C (p.Met215Leu) | |
2 | g.127426198A>G | CA348401576 | PROC | c.649A>G (p.Met217Val) c.121-2159A>G c.751A>G (p.Met251Val) n.235A>G c.832A>G (p.Met278Val) c.814A>G (p.Met272Val) c.712A>G (p.Met238Val) c.892A>G (p.Met298Val) c.994A>G (p.Met332Val) c.934A>G (p.Met312Val) n.4387T>C c.817A>G (p.Met273Val) c.835A>G (p.Met279Val) c.592A>G (p.Met198Val) c.625A>G (p.Met209Val) c.643A>G (p.Met215Val) | |
2 | g.127426198A>T | CA348401574 | PROC | c.649A>T (p.Met217Leu) c.121-2159A>T c.751A>T (p.Met251Leu) n.235A>T c.832A>T (p.Met278Leu) c.814A>T (p.Met272Leu) c.712A>T (p.Met238Leu) c.892A>T (p.Met298Leu) c.994A>T (p.Met332Leu) c.934A>T (p.Met312Leu) n.4387T>A c.817A>T (p.Met273Leu) c.835A>T (p.Met279Leu) c.592A>T (p.Met198Leu) c.625A>T (p.Met209Leu) c.643A>T (p.Met215Leu) | |
2 | g.127426199T>A | CA348401579 | PROC | c.650T>A (p.Met217Lys) c.121-2158T>A c.752T>A (p.Met251Lys) n.236T>A c.833T>A (p.Met278Lys) c.815T>A (p.Met272Lys) c.713T>A (p.Met238Lys) c.893T>A (p.Met298Lys) c.995T>A (p.Met332Lys) c.935T>A (p.Met312Lys) n.4386A>T c.818T>A (p.Met273Lys) c.836T>A (p.Met279Lys) c.593T>A (p.Met198Lys) c.626T>A (p.Met209Lys) c.644T>A (p.Met215Lys) | |
2 | g.127426199T>C | CA348401582 | PROC | c.650T>C (p.Met217Thr) c.121-2158T>C c.752T>C (p.Met251Thr) n.236T>C c.833T>C (p.Met278Thr) c.815T>C (p.Met272Thr) c.713T>C (p.Met238Thr) c.893T>C (p.Met298Thr) c.995T>C (p.Met332Thr) c.935T>C (p.Met312Thr) n.4386A>G c.818T>C (p.Met273Thr) c.836T>C (p.Met279Thr) c.593T>C (p.Met198Thr) c.626T>C (p.Met209Thr) c.644T>C (p.Met215Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426199T>G | CA348401585 | PROC | c.650T>G (p.Met217Arg) c.121-2158T>G c.752T>G (p.Met251Arg) n.236T>G c.833T>G (p.Met278Arg) c.815T>G (p.Met272Arg) c.713T>G (p.Met238Arg) c.893T>G (p.Met298Arg) c.995T>G (p.Met332Arg) c.935T>G (p.Met312Arg) n.4386A>C c.818T>G (p.Met273Arg) c.836T>G (p.Met279Arg) c.593T>G (p.Met198Arg) c.626T>G (p.Met209Arg) c.644T>G (p.Met215Arg) | dbSNP |
2 | g.127426199T= | CA1286883446 | PROC | c.650T= (p.Met217=) c.121-2158T= c.752T= (p.Met251=) n.236T= c.833T= (p.Met278=) c.815T= (p.Met272=) c.713T= (p.Met238=) c.893T= (p.Met298=) c.995T= (p.Met332=) c.935T= (p.Met312=) n.4386A= c.818T= (p.Met273=) c.836T= (p.Met279=) c.593T= (p.Met198=) c.626T= (p.Met209=) c.644T= (p.Met215=) | |
2 | g.127426200G>A | CA348401589 | PROC | c.651G>A (p.Met217Ile) c.121-2157G>A c.753G>A (p.Met251Ile) n.237G>A c.834G>A (p.Met278Ile) c.816G>A (p.Met272Ile) c.714G>A (p.Met238Ile) c.894G>A (p.Met298Ile) c.996G>A (p.Met332Ile) c.936G>A (p.Met312Ile) n.4385C>T c.819G>A (p.Met273Ile) c.837G>A (p.Met279Ile) c.594G>A (p.Met198Ile) c.627G>A (p.Met209Ile) c.645G>A (p.Met215Ile) | |
2 | g.127426200G>C | CA348401591 | PROC | c.651G>C (p.Met217Ile) c.121-2157G>C c.753G>C (p.Met251Ile) n.237G>C c.834G>C (p.Met278Ile) c.816G>C (p.Met272Ile) c.714G>C (p.Met238Ile) c.894G>C (p.Met298Ile) c.996G>C (p.Met332Ile) c.936G>C (p.Met312Ile) n.4385C>G c.819G>C (p.Met273Ile) c.837G>C (p.Met279Ile) c.594G>C (p.Met198Ile) c.627G>C (p.Met209Ile) c.645G>C (p.Met215Ile) | |
2 | g.127426200G>T | CA348401595 | PROC | c.651G>T (p.Met217Ile) c.121-2157G>T c.753G>T (p.Met251Ile) n.237G>T c.834G>T (p.Met278Ile) c.816G>T (p.Met272Ile) c.714G>T (p.Met238Ile) c.894G>T (p.Met298Ile) c.996G>T (p.Met332Ile) c.936G>T (p.Met312Ile) n.4385C>A c.819G>T (p.Met273Ile) c.837G>T (p.Met279Ile) c.594G>T (p.Met198Ile) c.627G>T (p.Met209Ile) c.645G>T (p.Met215Ile) | |
2 | g.127426201A>C | CA348401599 | PROC | c.652A>C (p.Thr218Pro) c.121-2156A>C c.754A>C (p.Thr252Pro) n.238A>C c.835A>C (p.Thr279Pro) c.817A>C (p.Thr273Pro) c.715A>C (p.Thr239Pro) c.895A>C (p.Thr299Pro) c.997A>C (p.Thr333Pro) c.937A>C (p.Thr313Pro) n.4384T>G c.820A>C (p.Thr274Pro) c.838A>C (p.Thr280Pro) c.595A>C (p.Thr199Pro) c.628A>C (p.Thr210Pro) c.646A>C (p.Thr216Pro) | |
2 | g.127426201A>G | CA348401609 | PROC | c.652A>G (p.Thr218Ala) c.121-2156A>G c.754A>G (p.Thr252Ala) n.238A>G c.835A>G (p.Thr279Ala) c.817A>G (p.Thr273Ala) c.715A>G (p.Thr239Ala) c.895A>G (p.Thr299Ala) c.997A>G (p.Thr333Ala) c.937A>G (p.Thr313Ala) n.4384T>C c.820A>G (p.Thr274Ala) c.838A>G (p.Thr280Ala) c.595A>G (p.Thr199Ala) c.628A>G (p.Thr210Ala) c.646A>G (p.Thr216Ala) | |
2 | g.127426201A>T | CA348401613 | PROC | c.652A>T (p.Thr218Ser) c.121-2156A>T c.754A>T (p.Thr252Ser) n.238A>T c.835A>T (p.Thr279Ser) c.817A>T (p.Thr273Ser) c.715A>T (p.Thr239Ser) c.895A>T (p.Thr299Ser) c.997A>T (p.Thr333Ser) c.937A>T (p.Thr313Ser) n.4384T>A c.820A>T (p.Thr274Ser) c.838A>T (p.Thr280Ser) c.595A>T (p.Thr199Ser) c.628A>T (p.Thr210Ser) c.646A>T (p.Thr216Ser) | COSMIC COSMIC |
2 | g.127426202C>A | CA348401617 | PROC | c.653C>A (p.Thr218Asn) c.121-2155C>A c.755C>A (p.Thr252Asn) n.239C>A c.836C>A (p.Thr279Asn) c.818C>A (p.Thr273Asn) c.716C>A (p.Thr239Asn) c.896C>A (p.Thr299Asn) c.998C>A (p.Thr333Asn) c.938C>A (p.Thr313Asn) n.4383G>T c.821C>A (p.Thr274Asn) c.839C>A (p.Thr280Asn) c.596C>A (p.Thr199Asn) c.629C>A (p.Thr210Asn) c.647C>A (p.Thr216Asn) | |
2 | g.127426202C>G | CA348401626 | PROC | c.653C>G (p.Thr218Ser) c.121-2155C>G c.755C>G (p.Thr252Ser) n.239C>G c.836C>G (p.Thr279Ser) c.818C>G (p.Thr273Ser) c.716C>G (p.Thr239Ser) c.896C>G (p.Thr299Ser) c.998C>G (p.Thr333Ser) c.938C>G (p.Thr313Ser) n.4383G>C c.821C>G (p.Thr274Ser) c.839C>G (p.Thr280Ser) c.596C>G (p.Thr199Ser) c.629C>G (p.Thr210Ser) c.647C>G (p.Thr216Ser) | |
2 | g.127426202C>T | CA348401628 | PROC | c.653C>T (p.Thr218Ile) c.121-2155C>T c.755C>T (p.Thr252Ile) n.239C>T c.836C>T (p.Thr279Ile) c.818C>T (p.Thr273Ile) c.716C>T (p.Thr239Ile) c.896C>T (p.Thr299Ile) c.998C>T (p.Thr333Ile) c.938C>T (p.Thr313Ile) n.4383G>A c.821C>T (p.Thr274Ile) c.839C>T (p.Thr280Ile) c.596C>T (p.Thr199Ile) c.629C>T (p.Thr210Ile) c.647C>T (p.Thr216Ile) | |
2 | g.127426203C>A | CA428618341 | PROC | c.654C>A (p.Thr218=) c.121-2154C>A c.756C>A (p.Thr252=) n.240C>A c.837C>A (p.Thr279=) c.819C>A (p.Thr273=) c.717C>A (p.Thr239=) c.897C>A (p.Thr299=) c.999C>A (p.Thr333=) c.939C>A (p.Thr313=) n.4382G>T c.822C>A (p.Thr274=) c.840C>A (p.Thr280=) c.597C>A (p.Thr199=) c.630C>A (p.Thr210=) c.648C>A (p.Thr216=) | |
2 | g.127426203C>G | CA428618343 | PROC | c.654C>G (p.Thr218=) c.121-2154C>G c.756C>G (p.Thr252=) n.240C>G c.837C>G (p.Thr279=) c.819C>G (p.Thr273=) c.717C>G (p.Thr239=) c.897C>G (p.Thr299=) c.999C>G (p.Thr333=) c.939C>G (p.Thr313=) n.4382G>C c.822C>G (p.Thr274=) c.840C>G (p.Thr280=) c.597C>G (p.Thr199=) c.630C>G (p.Thr210=) c.648C>G (p.Thr216=) | |
2 | g.127426203C>T | CA428618345 | PROC | c.654C>T (p.Thr218=) c.121-2154C>T c.756C>T (p.Thr252=) n.240C>T c.837C>T (p.Thr279=) c.819C>T (p.Thr273=) c.717C>T (p.Thr239=) c.897C>T (p.Thr299=) c.999C>T (p.Thr333=) c.939C>T (p.Thr313=) n.4382G>A c.822C>T (p.Thr274=) c.840C>T (p.Thr280=) c.597C>T (p.Thr199=) c.630C>T (p.Thr210=) c.648C>T (p.Thr216=) | |
2 | g.127426204A= | CA1286883447 | PROC | c.655A= (p.Arg219=) c.121-2153A= c.757A= (p.Arg253=) n.241A= c.838A= (p.Arg280=) c.820A= (p.Arg274=) c.718A= (p.Arg240=) c.898A= (p.Arg300=) c.1000A= (p.Arg334=) c.940A= (p.Arg314=) n.4381T= c.823A= (p.Arg275=) c.841A= (p.Arg281=) c.598A= (p.Arg200=) c.631A= (p.Arg211=) c.649A= (p.Arg217=) | |
2 | g.127426204A>C | CA428618346 | PROC | c.655A>C (p.Arg219=) c.121-2153A>C c.757A>C (p.Arg253=) n.241A>C c.838A>C (p.Arg280=) c.820A>C (p.Arg274=) c.718A>C (p.Arg240=) c.898A>C (p.Arg300=) c.1000A>C (p.Arg334=) c.940A>C (p.Arg314=) n.4381T>G c.823A>C (p.Arg275=) c.841A>C (p.Arg281=) c.598A>C (p.Arg200=) c.631A>C (p.Arg211=) c.649A>C (p.Arg217=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426204A>G | CA348401633 | PROC | c.655A>G (p.Arg219Gly) c.121-2153A>G c.757A>G (p.Arg253Gly) n.241A>G c.838A>G (p.Arg280Gly) c.820A>G (p.Arg274Gly) c.718A>G (p.Arg240Gly) c.898A>G (p.Arg300Gly) c.1000A>G (p.Arg334Gly) c.940A>G (p.Arg314Gly) n.4381T>C c.823A>G (p.Arg275Gly) c.841A>G (p.Arg281Gly) c.598A>G (p.Arg200Gly) c.631A>G (p.Arg211Gly) c.649A>G (p.Arg217Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426204A>T | CA348401636 | PROC | c.655A>T (p.Arg219Trp) c.121-2153A>T c.757A>T (p.Arg253Trp) n.241A>T c.838A>T (p.Arg280Trp) c.820A>T (p.Arg274Trp) c.718A>T (p.Arg240Trp) c.898A>T (p.Arg300Trp) c.1000A>T (p.Arg334Trp) c.940A>T (p.Arg314Trp) n.4381T>A c.823A>T (p.Arg275Trp) c.841A>T (p.Arg281Trp) c.598A>T (p.Arg200Trp) c.631A>T (p.Arg211Trp) c.649A>T (p.Arg217Trp) | |
2 | g.127426205G>A | CA348401640 | PROC | c.656G>A (p.Arg219Lys) c.121-2152G>A c.758G>A (p.Arg253Lys) n.242G>A c.839G>A (p.Arg280Lys) c.821G>A (p.Arg274Lys) c.719G>A (p.Arg240Lys) c.899G>A (p.Arg300Lys) c.1001G>A (p.Arg334Lys) c.941G>A (p.Arg314Lys) n.4380C>T c.824G>A (p.Arg275Lys) c.842G>A (p.Arg281Lys) c.599G>A (p.Arg200Lys) c.632G>A (p.Arg211Lys) c.650G>A (p.Arg217Lys) | |
2 | g.127426205G>C | CA348401642 | PROC | c.656G>C (p.Arg219Thr) c.121-2152G>C c.758G>C (p.Arg253Thr) n.242G>C c.839G>C (p.Arg280Thr) c.821G>C (p.Arg274Thr) c.719G>C (p.Arg240Thr) c.899G>C (p.Arg300Thr) c.1001G>C (p.Arg334Thr) c.941G>C (p.Arg314Thr) n.4380C>G c.824G>C (p.Arg275Thr) c.842G>C (p.Arg281Thr) c.599G>C (p.Arg200Thr) c.632G>C (p.Arg211Thr) c.650G>C (p.Arg217Thr) | gnomAD v4 |
2 | g.127426205G>T | CA348401647 | PROC | c.656G>T (p.Arg219Met) c.121-2152G>T c.758G>T (p.Arg253Met) n.242G>T c.839G>T (p.Arg280Met) c.821G>T (p.Arg274Met) c.719G>T (p.Arg240Met) c.899G>T (p.Arg300Met) c.1001G>T (p.Arg334Met) c.941G>T (p.Arg314Met) n.4380C>A c.824G>T (p.Arg275Met) c.842G>T (p.Arg281Met) c.599G>T (p.Arg200Met) c.632G>T (p.Arg211Met) c.650G>T (p.Arg217Met) | |
2 | g.127426206G>A | CA428618348 | PROC | c.657G>A (p.Arg219=) c.121-2151G>A c.759G>A (p.Arg253=) n.243G>A c.840G>A (p.Arg280=) c.822G>A (p.Arg274=) c.720G>A (p.Arg240=) c.900G>A (p.Arg300=) c.1002G>A (p.Arg334=) c.942G>A (p.Arg314=) n.4379C>T c.825G>A (p.Arg275=) c.843G>A (p.Arg281=) c.600G>A (p.Arg200=) c.633G>A (p.Arg211=) c.651G>A (p.Arg217=) | COSMIC |
2 | g.127426206G>C | CA348401651 | PROC | c.657G>C (p.Arg219Ser) c.121-2151G>C c.759G>C (p.Arg253Ser) n.243G>C c.840G>C (p.Arg280Ser) c.822G>C (p.Arg274Ser) c.720G>C (p.Arg240Ser) c.900G>C (p.Arg300Ser) c.1002G>C (p.Arg334Ser) c.942G>C (p.Arg314Ser) n.4379C>G c.825G>C (p.Arg275Ser) c.843G>C (p.Arg281Ser) c.600G>C (p.Arg200Ser) c.633G>C (p.Arg211Ser) c.651G>C (p.Arg217Ser) | |
2 | g.127426206G>T | CA348401652 | PROC | c.657G>T (p.Arg219Ser) c.121-2151G>T c.759G>T (p.Arg253Ser) n.243G>T c.840G>T (p.Arg280Ser) c.822G>T (p.Arg274Ser) c.720G>T (p.Arg240Ser) c.900G>T (p.Arg300Ser) c.1002G>T (p.Arg334Ser) c.942G>T (p.Arg314Ser) n.4379C>A c.825G>T (p.Arg275Ser) c.843G>T (p.Arg281Ser) c.600G>T (p.Arg200Ser) c.633G>T (p.Arg211Ser) c.651G>T (p.Arg217Ser) | |
2 | g.127426207C>A | CA428618351 | PROC | c.658C>A (p.Arg220=) c.121-2150C>A c.760C>A (p.Arg254=) n.244C>A c.841C>A (p.Arg281=) c.823C>A (p.Arg275=) c.721C>A (p.Arg241=) c.901C>A (p.Arg301=) c.1003C>A (p.Arg335=) c.943C>A (p.Arg315=) n.4378G>T c.826C>A (p.Arg276=) c.844C>A (p.Arg282=) c.601C>A (p.Arg201=) c.634C>A (p.Arg212=) c.652C>A (p.Arg218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426207C= | CA1286883448 | PROC | c.658C= (p.Arg220=) c.121-2150C= c.760C= (p.Arg254=) n.244C= c.841C= (p.Arg281=) c.823C= (p.Arg275=) c.721C= (p.Arg241=) c.901C= (p.Arg301=) c.1003C= (p.Arg335=) c.943C= (p.Arg315=) n.4378G= c.826C= (p.Arg276=) c.844C= (p.Arg282=) c.601C= (p.Arg201=) c.634C= (p.Arg212=) c.652C= (p.Arg218=) | |
2 | g.127426207C>G | CA348401654 | PROC | c.658C>G (p.Arg220Gly) c.121-2150C>G c.760C>G (p.Arg254Gly) n.244C>G c.841C>G (p.Arg281Gly) c.823C>G (p.Arg275Gly) c.721C>G (p.Arg241Gly) c.901C>G (p.Arg301Gly) c.1003C>G (p.Arg335Gly) c.943C>G (p.Arg315Gly) n.4378G>C c.826C>G (p.Arg276Gly) c.844C>G (p.Arg282Gly) c.601C>G (p.Arg201Gly) c.634C>G (p.Arg212Gly) c.652C>G (p.Arg218Gly) | |
2 | g.127426207C>T | CA114410 | PROC | c.658C>T (p.Arg220Trp) c.121-2150C>T c.760C>T (p.Arg254Trp) n.244C>T c.841C>T (p.Arg281Trp) c.823C>T (p.Arg275Trp) c.721C>T (p.Arg241Trp) c.901C>T (p.Arg301Trp) c.1003C>T (p.Arg335Trp) c.943C>T (p.Arg315Trp) n.4378G>A c.826C>T (p.Arg276Trp) c.844C>T (p.Arg282Trp) c.601C>T (p.Arg201Trp) c.634C>T (p.Arg212Trp) c.652C>T (p.Arg218Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426208G>A | CA114412 | PROC | c.659G>A (p.Arg220Gln) c.121-2149G>A c.761G>A (p.Arg254Gln) n.245G>A c.842G>A (p.Arg281Gln) c.824G>A (p.Arg275Gln) c.722G>A (p.Arg241Gln) c.902G>A (p.Arg301Gln) c.1004G>A (p.Arg335Gln) c.944G>A (p.Arg315Gln) n.4377C>T c.827G>A (p.Arg276Gln) c.845G>A (p.Arg282Gln) c.602G>A (p.Arg201Gln) c.635G>A (p.Arg212Gln) c.653G>A (p.Arg218Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426208G>C | CA348401661 | PROC | c.659G>C (p.Arg220Pro) c.121-2149G>C c.761G>C (p.Arg254Pro) n.245G>C c.842G>C (p.Arg281Pro) c.824G>C (p.Arg275Pro) c.722G>C (p.Arg241Pro) c.902G>C (p.Arg301Pro) c.1004G>C (p.Arg335Pro) c.944G>C (p.Arg315Pro) n.4377C>G c.827G>C (p.Arg276Pro) c.845G>C (p.Arg282Pro) c.602G>C (p.Arg201Pro) c.635G>C (p.Arg212Pro) c.653G>C (p.Arg218Pro) | ClinVar dbSNP |
2 | g.127426208G= | CA1286883449 | PROC | c.659G= (p.Arg220=) c.121-2149G= c.761G= (p.Arg254=) n.245G= c.842G= (p.Arg281=) c.824G= (p.Arg275=) c.722G= (p.Arg241=) c.902G= (p.Arg301=) c.1004G= (p.Arg335=) c.944G= (p.Arg315=) n.4377C= c.827G= (p.Arg276=) c.845G= (p.Arg282=) c.602G= (p.Arg201=) c.635G= (p.Arg212=) c.653G= (p.Arg218=) | |
2 | g.127426208G>T | CA1859404 | PROC | c.659G>T (p.Arg220Leu) c.121-2149G>T c.761G>T (p.Arg254Leu) n.245G>T c.842G>T (p.Arg281Leu) c.824G>T (p.Arg275Leu) c.722G>T (p.Arg241Leu) c.902G>T (p.Arg301Leu) c.1004G>T (p.Arg335Leu) c.944G>T (p.Arg315Leu) n.4377C>A c.827G>T (p.Arg276Leu) c.845G>T (p.Arg282Leu) c.602G>T (p.Arg201Leu) c.635G>T (p.Arg212Leu) c.653G>T (p.Arg218Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127426209G>A | CA428618353 | PROC | c.660G>A (p.Arg220=) c.121-2148G>A c.762G>A (p.Arg254=) n.246G>A c.843G>A (p.Arg281=) c.825G>A (p.Arg275=) c.723G>A (p.Arg241=) c.903G>A (p.Arg301=) c.1005G>A (p.Arg335=) c.945G>A (p.Arg315=) n.4376C>T c.828G>A (p.Arg276=) c.846G>A (p.Arg282=) c.603G>A (p.Arg201=) c.636G>A (p.Arg212=) c.654G>A (p.Arg218=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426209G>C | CA428618354 | PROC | c.660G>C (p.Arg220=) c.121-2148G>C c.762G>C (p.Arg254=) n.246G>C c.843G>C (p.Arg281=) c.825G>C (p.Arg275=) c.723G>C (p.Arg241=) c.903G>C (p.Arg301=) c.1005G>C (p.Arg335=) c.945G>C (p.Arg315=) n.4376C>G c.828G>C (p.Arg276=) c.846G>C (p.Arg282=) c.603G>C (p.Arg201=) c.636G>C (p.Arg212=) c.654G>C (p.Arg218=) | |
2 | g.127426209G= | CA1286883450 | PROC | c.660G= (p.Arg220=) c.121-2148G= c.762G= (p.Arg254=) n.246G= c.843G= (p.Arg281=) c.825G= (p.Arg275=) c.723G= (p.Arg241=) c.903G= (p.Arg301=) c.1005G= (p.Arg335=) c.945G= (p.Arg315=) n.4376C= c.828G= (p.Arg276=) c.846G= (p.Arg282=) c.603G= (p.Arg201=) c.636G= (p.Arg212=) c.654G= (p.Arg218=) | |
2 | g.127426209G>T | CA428618355 | PROC | c.660G>T (p.Arg220=) c.121-2148G>T c.762G>T (p.Arg254=) n.246G>T c.843G>T (p.Arg281=) c.825G>T (p.Arg275=) c.723G>T (p.Arg241=) c.903G>T (p.Arg301=) c.1005G>T (p.Arg335=) c.945G>T (p.Arg315=) n.4376C>A c.828G>T (p.Arg276=) c.846G>T (p.Arg282=) c.603G>T (p.Arg201=) c.636G>T (p.Arg212=) c.654G>T (p.Arg218=) | |
2 | g.127426210G>A | CA55348430 | PROC | c.661G>A (p.Gly221Arg) c.121-2147G>A c.763G>A (p.Gly255Arg) n.247G>A c.844G>A (p.Gly282Arg) c.826G>A (p.Gly276Arg) c.724G>A (p.Gly242Arg) c.904G>A (p.Gly302Arg) c.1006G>A (p.Gly336Arg) c.946G>A (p.Gly316Arg) n.4375C>T c.829G>A (p.Gly277Arg) c.847G>A (p.Gly283Arg) c.604G>A (p.Gly202Arg) c.637G>A (p.Gly213Arg) c.655G>A (p.Gly219Arg) | dbSNP |
2 | g.127426210G>C | CA348401668 | PROC | c.661G>C (p.Gly221Arg) c.121-2147G>C c.763G>C (p.Gly255Arg) n.247G>C c.844G>C (p.Gly282Arg) c.826G>C (p.Gly276Arg) c.724G>C (p.Gly242Arg) c.904G>C (p.Gly302Arg) c.1006G>C (p.Gly336Arg) c.946G>C (p.Gly316Arg) n.4375C>G c.829G>C (p.Gly277Arg) c.847G>C (p.Gly283Arg) c.604G>C (p.Gly202Arg) c.637G>C (p.Gly213Arg) c.655G>C (p.Gly219Arg) | |
2 | g.127426210G= | CA1286883451 | PROC | c.661G= (p.Gly221=) c.121-2147G= c.763G= (p.Gly255=) n.247G= c.844G= (p.Gly282=) c.826G= (p.Gly276=) c.724G= (p.Gly242=) c.904G= (p.Gly302=) c.1006G= (p.Gly336=) c.946G= (p.Gly316=) n.4375C= c.829G= (p.Gly277=) c.847G= (p.Gly283=) c.604G= (p.Gly202=) c.637G= (p.Gly213=) c.655G= (p.Gly219=) | |
2 | g.127426210G>T | CA348401671 | PROC | c.661G>T (p.Gly221Ter) c.121-2147G>T c.763G>T (p.Gly255Ter) n.247G>T c.844G>T (p.Gly282Ter) c.826G>T (p.Gly276Ter) c.724G>T (p.Gly242Ter) c.904G>T (p.Gly302Ter) c.1006G>T (p.Gly336Ter) c.946G>T (p.Gly316Ter) n.4375C>A c.829G>T (p.Gly277Ter) c.847G>T (p.Gly283Ter) c.604G>T (p.Gly202Ter) c.637G>T (p.Gly213Ter) c.655G>T (p.Gly219Ter) | |
2 | g.127426211G>A | CA348401679 | PROC | c.662G>A (p.Gly221Glu) c.121-2146G>A c.764G>A (p.Gly255Glu) n.248G>A c.845G>A (p.Gly282Glu) c.827G>A (p.Gly276Glu) c.725G>A (p.Gly242Glu) c.905G>A (p.Gly302Glu) c.1007G>A (p.Gly336Glu) c.947G>A (p.Gly316Glu) n.4374C>T c.830G>A (p.Gly277Glu) c.848G>A (p.Gly283Glu) c.605G>A (p.Gly202Glu) c.638G>A (p.Gly213Glu) c.656G>A (p.Gly219Glu) | |
2 | g.127426211G>C | CA348401674 | PROC | c.662G>C (p.Gly221Ala) c.121-2146G>C c.764G>C (p.Gly255Ala) n.248G>C c.845G>C (p.Gly282Ala) c.827G>C (p.Gly276Ala) c.725G>C (p.Gly242Ala) c.905G>C (p.Gly302Ala) c.1007G>C (p.Gly336Ala) c.947G>C (p.Gly316Ala) n.4374C>G c.830G>C (p.Gly277Ala) c.848G>C (p.Gly283Ala) c.605G>C (p.Gly202Ala) c.638G>C (p.Gly213Ala) c.656G>C (p.Gly219Ala) | |
2 | g.127426211G>T | CA348401677 | PROC | c.662G>T (p.Gly221Val) c.121-2146G>T c.764G>T (p.Gly255Val) n.248G>T c.845G>T (p.Gly282Val) c.827G>T (p.Gly276Val) c.725G>T (p.Gly242Val) c.905G>T (p.Gly302Val) c.1007G>T (p.Gly336Val) c.947G>T (p.Gly316Val) n.4374C>A c.830G>T (p.Gly277Val) c.848G>T (p.Gly283Val) c.605G>T (p.Gly202Val) c.638G>T (p.Gly213Val) c.656G>T (p.Gly219Val) | |
2 | g.127426212A= | CA1286883452 | PROC | c.663A= (p.Gly221=) c.121-2145A= c.765A= (p.Gly255=) n.249A= c.846A= (p.Gly282=) c.828A= (p.Gly276=) c.726A= (p.Gly242=) c.906A= (p.Gly302=) c.1008A= (p.Gly336=) c.948A= (p.Gly316=) n.4373T= c.831A= (p.Gly277=) c.849A= (p.Gly283=) c.606A= (p.Gly202=) c.639A= (p.Gly213=) c.657A= (p.Gly219=) | |
2 | g.127426212A>C | CA428618357 | PROC | c.663A>C (p.Gly221=) c.121-2145A>C c.765A>C (p.Gly255=) n.249A>C c.846A>C (p.Gly282=) c.828A>C (p.Gly276=) c.726A>C (p.Gly242=) c.906A>C (p.Gly302=) c.1008A>C (p.Gly336=) c.948A>C (p.Gly316=) n.4373T>G c.831A>C (p.Gly277=) c.849A>C (p.Gly283=) c.606A>C (p.Gly202=) c.639A>C (p.Gly213=) c.657A>C (p.Gly219=) | |
2 | g.127426212A>G | CA428618359 | PROC | c.663A>G (p.Gly221=) c.121-2145A>G c.765A>G (p.Gly255=) n.249A>G c.846A>G (p.Gly282=) c.828A>G (p.Gly276=) c.726A>G (p.Gly242=) c.906A>G (p.Gly302=) c.1008A>G (p.Gly336=) c.948A>G (p.Gly316=) n.4373T>C c.831A>G (p.Gly277=) c.849A>G (p.Gly283=) c.606A>G (p.Gly202=) c.639A>G (p.Gly213=) c.657A>G (p.Gly219=) | |
2 | g.127426212A>T | CA55348435 | PROC | c.663A>T (p.Gly221=) c.121-2145A>T c.765A>T (p.Gly255=) n.249A>T c.846A>T (p.Gly282=) c.828A>T (p.Gly276=) c.726A>T (p.Gly242=) c.906A>T (p.Gly302=) c.1008A>T (p.Gly336=) c.948A>T (p.Gly316=) n.4373T>A c.831A>T (p.Gly277=) c.849A>T (p.Gly283=) c.606A>T (p.Gly202=) c.639A>T (p.Gly213=) c.657A>T (p.Gly219=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426213G>A | CA348401682 | PROC | c.664G>A (p.Asp222Asn) c.121-2144G>A c.766G>A (p.Asp256Asn) n.250G>A c.847G>A (p.Asp283Asn) c.829G>A (p.Asp277Asn) c.727G>A (p.Asp243Asn) c.907G>A (p.Asp303Asn) c.1009G>A (p.Asp337Asn) c.949G>A (p.Asp317Asn) n.4372C>T c.832G>A (p.Asp278Asn) c.850G>A (p.Asp284Asn) c.607G>A (p.Asp203Asn) c.640G>A (p.Asp214Asn) c.658G>A (p.Asp220Asn) | gnomAD v4 |
2 | g.127426213G>C | CA348401691 | PROC | c.664G>C (p.Asp222His) c.121-2144G>C c.766G>C (p.Asp256His) n.250G>C c.847G>C (p.Asp283His) c.829G>C (p.Asp277His) c.727G>C (p.Asp243His) c.907G>C (p.Asp303His) c.1009G>C (p.Asp337His) c.949G>C (p.Asp317His) n.4372C>G c.832G>C (p.Asp278His) c.850G>C (p.Asp284His) c.607G>C (p.Asp203His) c.640G>C (p.Asp214His) c.658G>C (p.Asp220His) | |
2 | g.127426213G>T | CA348401694 | PROC | c.664G>T (p.Asp222Tyr) c.121-2144G>T c.766G>T (p.Asp256Tyr) n.250G>T c.847G>T (p.Asp283Tyr) c.829G>T (p.Asp277Tyr) c.727G>T (p.Asp243Tyr) c.907G>T (p.Asp303Tyr) c.1009G>T (p.Asp337Tyr) c.949G>T (p.Asp317Tyr) n.4372C>A c.832G>T (p.Asp278Tyr) c.850G>T (p.Asp284Tyr) c.607G>T (p.Asp203Tyr) c.640G>T (p.Asp214Tyr) c.658G>T (p.Asp220Tyr) | |
2 | g.127426214A= | CA1286883453 | PROC | c.665A= (p.Asp222=) c.121-2143A= c.767A= (p.Asp256=) n.251A= c.848A= (p.Asp283=) c.830A= (p.Asp277=) c.728A= (p.Asp243=) c.908A= (p.Asp303=) c.1010A= (p.Asp337=) c.950A= (p.Asp317=) n.4371T= c.833A= (p.Asp278=) c.851A= (p.Asp284=) c.608A= (p.Asp203=) c.641A= (p.Asp214=) c.659A= (p.Asp220=) | |
2 | g.127426214A>C | CA348401696 | PROC | c.665A>C (p.Asp222Ala) c.121-2143A>C c.767A>C (p.Asp256Ala) n.251A>C c.848A>C (p.Asp283Ala) c.830A>C (p.Asp277Ala) c.728A>C (p.Asp243Ala) c.908A>C (p.Asp303Ala) c.1010A>C (p.Asp337Ala) c.950A>C (p.Asp317Ala) n.4371T>G c.833A>C (p.Asp278Ala) c.851A>C (p.Asp284Ala) c.608A>C (p.Asp203Ala) c.641A>C (p.Asp214Ala) c.659A>C (p.Asp220Ala) | |
2 | g.127426214A>G | CA348401698 | PROC | c.665A>G (p.Asp222Gly) c.121-2143A>G c.767A>G (p.Asp256Gly) n.251A>G c.848A>G (p.Asp283Gly) c.830A>G (p.Asp277Gly) c.728A>G (p.Asp243Gly) c.908A>G (p.Asp303Gly) c.1010A>G (p.Asp337Gly) c.950A>G (p.Asp317Gly) n.4371T>C c.833A>G (p.Asp278Gly) c.851A>G (p.Asp284Gly) c.608A>G (p.Asp203Gly) c.641A>G (p.Asp214Gly) c.659A>G (p.Asp220Gly) | dbSNP |
2 | g.127426214A>T | CA348401700 | PROC | c.665A>T (p.Asp222Val) c.121-2143A>T c.767A>T (p.Asp256Val) n.251A>T c.848A>T (p.Asp283Val) c.830A>T (p.Asp277Val) c.728A>T (p.Asp243Val) c.908A>T (p.Asp303Val) c.1010A>T (p.Asp337Val) c.950A>T (p.Asp317Val) n.4371T>A c.833A>T (p.Asp278Val) c.851A>T (p.Asp284Val) c.608A>T (p.Asp203Val) c.641A>T (p.Asp214Val) c.659A>T (p.Asp220Val) | |
2 | g.127426215C>A | CA348401704 | PROC | c.666C>A (p.Asp222Glu) c.121-2142C>A c.768C>A (p.Asp256Glu) n.252C>A c.849C>A (p.Asp283Glu) c.831C>A (p.Asp277Glu) c.729C>A (p.Asp243Glu) c.909C>A (p.Asp303Glu) c.1011C>A (p.Asp337Glu) c.951C>A (p.Asp317Glu) n.4370G>T c.834C>A (p.Asp278Glu) c.852C>A (p.Asp284Glu) c.609C>A (p.Asp203Glu) c.642C>A (p.Asp214Glu) c.660C>A (p.Asp220Glu) | |
2 | g.127426215C= | CA1286883454 | PROC | c.666C= (p.Asp222=) c.121-2142C= c.768C= (p.Asp256=) n.252C= c.849C= (p.Asp283=) c.831C= (p.Asp277=) c.729C= (p.Asp243=) c.909C= (p.Asp303=) c.1011C= (p.Asp337=) c.951C= (p.Asp317=) n.4370G= c.834C= (p.Asp278=) c.852C= (p.Asp284=) c.609C= (p.Asp203=) c.642C= (p.Asp214=) c.660C= (p.Asp220=) | |
2 | g.127426215C>G | CA10612100 | PROC | c.666C>G (p.Asp222Glu) c.121-2142C>G c.768C>G (p.Asp256Glu) n.252C>G c.849C>G (p.Asp283Glu) c.831C>G (p.Asp277Glu) c.729C>G (p.Asp243Glu) c.909C>G (p.Asp303Glu) c.1011C>G (p.Asp337Glu) c.951C>G (p.Asp317Glu) n.4370G>C c.834C>G (p.Asp278Glu) c.852C>G (p.Asp284Glu) c.609C>G (p.Asp203Glu) c.642C>G (p.Asp214Glu) c.660C>G (p.Asp220Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426215C>T | CA428618361 | PROC | c.666C>T (p.Asp222=) c.121-2142C>T c.768C>T (p.Asp256=) n.252C>T c.849C>T (p.Asp283=) c.831C>T (p.Asp277=) c.729C>T (p.Asp243=) c.909C>T (p.Asp303=) c.1011C>T (p.Asp337=) c.951C>T (p.Asp317=) n.4370G>A c.834C>T (p.Asp278=) c.852C>T (p.Asp284=) c.609C>T (p.Asp203=) c.642C>T (p.Asp214=) c.660C>T (p.Asp220=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426216A>C | CA348401707 | PROC | c.667A>C (p.Ser223Arg) c.121-2141A>C c.769A>C (p.Ser257Arg) n.253A>C c.850A>C (p.Ser284Arg) c.832A>C (p.Ser278Arg) c.730A>C (p.Ser244Arg) c.910A>C (p.Ser304Arg) c.1012A>C (p.Ser338Arg) c.952A>C (p.Ser318Arg) n.4369T>G c.835A>C (p.Ser279Arg) c.853A>C (p.Ser285Arg) c.610A>C (p.Ser204Arg) c.643A>C (p.Ser215Arg) c.661A>C (p.Ser221Arg) | |
2 | g.127426216A>G | CA348401709 | PROC | c.667A>G (p.Ser223Gly) c.121-2141A>G c.769A>G (p.Ser257Gly) n.253A>G c.850A>G (p.Ser284Gly) c.832A>G (p.Ser278Gly) c.730A>G (p.Ser244Gly) c.910A>G (p.Ser304Gly) c.1012A>G (p.Ser338Gly) c.952A>G (p.Ser318Gly) n.4369T>C c.835A>G (p.Ser279Gly) c.853A>G (p.Ser285Gly) c.610A>G (p.Ser204Gly) c.643A>G (p.Ser215Gly) c.661A>G (p.Ser221Gly) | gnomAD v4 |
2 | g.127426216A>T | CA348401712 | PROC | c.667A>T (p.Ser223Cys) c.121-2141A>T c.769A>T (p.Ser257Cys) n.253A>T c.850A>T (p.Ser284Cys) c.832A>T (p.Ser278Cys) c.730A>T (p.Ser244Cys) c.910A>T (p.Ser304Cys) c.1012A>T (p.Ser338Cys) c.952A>T (p.Ser318Cys) n.4369T>A c.835A>T (p.Ser279Cys) c.853A>T (p.Ser285Cys) c.610A>T (p.Ser204Cys) c.643A>T (p.Ser215Cys) c.661A>T (p.Ser221Cys) | |
2 | g.127426217G>A | CA348401719 | PROC | c.668G>A (p.Ser223Asn) c.121-2140G>A c.770G>A (p.Ser257Asn) n.254G>A c.851G>A (p.Ser284Asn) c.833G>A (p.Ser278Asn) c.731G>A (p.Ser244Asn) c.911G>A (p.Ser304Asn) c.1013G>A (p.Ser338Asn) c.953G>A (p.Ser318Asn) n.4368C>T c.836G>A (p.Ser279Asn) c.854G>A (p.Ser285Asn) c.611G>A (p.Ser204Asn) c.644G>A (p.Ser215Asn) c.662G>A (p.Ser221Asn) | gnomAD v4 |
2 | g.127426217G>C | CA348401717 | PROC | c.668G>C (p.Ser223Thr) c.121-2140G>C c.770G>C (p.Ser257Thr) n.254G>C c.851G>C (p.Ser284Thr) c.833G>C (p.Ser278Thr) c.731G>C (p.Ser244Thr) c.911G>C (p.Ser304Thr) c.1013G>C (p.Ser338Thr) c.953G>C (p.Ser318Thr) n.4368C>G c.836G>C (p.Ser279Thr) c.854G>C (p.Ser285Thr) c.611G>C (p.Ser204Thr) c.644G>C (p.Ser215Thr) c.662G>C (p.Ser221Thr) | |
2 | g.127426217G>T | CA348401715 | PROC | c.668G>T (p.Ser223Ile) c.121-2140G>T c.770G>T (p.Ser257Ile) n.254G>T c.851G>T (p.Ser284Ile) c.833G>T (p.Ser278Ile) c.731G>T (p.Ser244Ile) c.911G>T (p.Ser304Ile) c.1013G>T (p.Ser338Ile) c.953G>T (p.Ser318Ile) n.4368C>A c.836G>T (p.Ser279Ile) c.854G>T (p.Ser285Ile) c.611G>T (p.Ser204Ile) c.644G>T (p.Ser215Ile) c.662G>T (p.Ser221Ile) | |
2 | g.127426218C>A | CA55348452 | PROC | c.669C>A (p.Ser223Arg) c.121-2139C>A c.771C>A (p.Ser257Arg) n.255C>A c.852C>A (p.Ser284Arg) c.834C>A (p.Ser278Arg) c.732C>A (p.Ser244Arg) c.912C>A (p.Ser304Arg) c.1014C>A (p.Ser338Arg) c.954C>A (p.Ser318Arg) n.4367G>T c.837C>A (p.Ser279Arg) c.855C>A (p.Ser285Arg) c.612C>A (p.Ser204Arg) c.645C>A (p.Ser215Arg) c.663C>A (p.Ser221Arg) | dbSNP gnomAD v4 |
2 | g.127426218C= | CA1286883455 | PROC | c.669C= (p.Ser223=) c.121-2139C= c.771C= (p.Ser257=) n.255C= c.852C= (p.Ser284=) c.834C= (p.Ser278=) c.732C= (p.Ser244=) c.912C= (p.Ser304=) c.1014C= (p.Ser338=) c.954C= (p.Ser318=) n.4367G= c.837C= (p.Ser279=) c.855C= (p.Ser285=) c.612C= (p.Ser204=) c.645C= (p.Ser215=) c.663C= (p.Ser221=) | |
2 | g.127426218C>G | CA348401722 | PROC | c.669C>G (p.Ser223Arg) c.121-2139C>G c.771C>G (p.Ser257Arg) n.255C>G c.852C>G (p.Ser284Arg) c.834C>G (p.Ser278Arg) c.732C>G (p.Ser244Arg) c.912C>G (p.Ser304Arg) c.1014C>G (p.Ser338Arg) c.954C>G (p.Ser318Arg) n.4367G>C c.837C>G (p.Ser279Arg) c.855C>G (p.Ser285Arg) c.612C>G (p.Ser204Arg) c.645C>G (p.Ser215Arg) c.663C>G (p.Ser221Arg) | |
2 | g.127426218C>T | CA428618362 | PROC | c.669C>T (p.Ser223=) c.121-2139C>T c.771C>T (p.Ser257=) n.255C>T c.852C>T (p.Ser284=) c.834C>T (p.Ser278=) c.732C>T (p.Ser244=) c.912C>T (p.Ser304=) c.1014C>T (p.Ser338=) c.954C>T (p.Ser318=) n.4367G>A c.837C>T (p.Ser279=) c.855C>T (p.Ser285=) c.612C>T (p.Ser204=) c.645C>T (p.Ser215=) c.663C>T (p.Ser221=) | |
2 | g.127426219C>A | CA348401723 | PROC | c.670C>A (p.Pro224Thr) c.121-2138C>A c.772C>A (p.Pro258Thr) n.256C>A c.853C>A (p.Pro285Thr) c.835C>A (p.Pro279Thr) c.733C>A (p.Pro245Thr) c.913C>A (p.Pro305Thr) c.1015C>A (p.Pro339Thr) c.955C>A (p.Pro319Thr) n.4366G>T c.838C>A (p.Pro280Thr) c.856C>A (p.Pro286Thr) c.613C>A (p.Pro205Thr) c.646C>A (p.Pro216Thr) c.664C>A (p.Pro222Thr) | |
2 | g.127426219C>G | CA348401727 | PROC | c.670C>G (p.Pro224Ala) c.121-2138C>G c.772C>G (p.Pro258Ala) n.256C>G c.853C>G (p.Pro285Ala) c.835C>G (p.Pro279Ala) c.733C>G (p.Pro245Ala) c.913C>G (p.Pro305Ala) c.1015C>G (p.Pro339Ala) c.955C>G (p.Pro319Ala) n.4366G>C c.838C>G (p.Pro280Ala) c.856C>G (p.Pro286Ala) c.613C>G (p.Pro205Ala) c.646C>G (p.Pro216Ala) c.664C>G (p.Pro222Ala) | |
2 | g.127426219C>T | CA348401725 | PROC | c.670C>T (p.Pro224Ser) c.121-2138C>T c.772C>T (p.Pro258Ser) n.256C>T c.853C>T (p.Pro285Ser) c.835C>T (p.Pro279Ser) c.733C>T (p.Pro245Ser) c.913C>T (p.Pro305Ser) c.1015C>T (p.Pro339Ser) c.955C>T (p.Pro319Ser) n.4366G>A c.838C>T (p.Pro280Ser) c.856C>T (p.Pro286Ser) c.613C>T (p.Pro205Ser) c.646C>T (p.Pro216Ser) c.664C>T (p.Pro222Ser) | |
2 | g.127426220C>A | CA348401729 | PROC | c.671C>A (p.Pro224His) c.121-2137C>A c.773C>A (p.Pro258His) n.257C>A c.854C>A (p.Pro285His) c.836C>A (p.Pro279His) c.734C>A (p.Pro245His) c.914C>A (p.Pro305His) c.1016C>A (p.Pro339His) c.956C>A (p.Pro319His) n.4365G>T c.839C>A (p.Pro280His) c.857C>A (p.Pro286His) c.614C>A (p.Pro205His) c.647C>A (p.Pro216His) c.665C>A (p.Pro222His) | |
2 | g.127426220C>G | CA348401732 | PROC | c.671C>G (p.Pro224Arg) c.121-2137C>G c.773C>G (p.Pro258Arg) n.257C>G c.854C>G (p.Pro285Arg) c.836C>G (p.Pro279Arg) c.734C>G (p.Pro245Arg) c.914C>G (p.Pro305Arg) c.1016C>G (p.Pro339Arg) c.956C>G (p.Pro319Arg) n.4365G>C c.839C>G (p.Pro280Arg) c.857C>G (p.Pro286Arg) c.614C>G (p.Pro205Arg) c.647C>G (p.Pro216Arg) c.665C>G (p.Pro222Arg) | |
2 | g.127426220C>T | CA348401734 | PROC | c.671C>T (p.Pro224Leu) c.121-2137C>T c.773C>T (p.Pro258Leu) n.257C>T c.854C>T (p.Pro285Leu) c.836C>T (p.Pro279Leu) c.734C>T (p.Pro245Leu) c.914C>T (p.Pro305Leu) c.1016C>T (p.Pro339Leu) c.956C>T (p.Pro319Leu) n.4365G>A c.839C>T (p.Pro280Leu) c.857C>T (p.Pro286Leu) c.614C>T (p.Pro205Leu) c.647C>T (p.Pro216Leu) c.665C>T (p.Pro222Leu) | |
2 | g.127426221C>A | CA428618364 | PROC | c.672C>A (p.Pro224=) c.121-2136C>A c.774C>A (p.Pro258=) n.258C>A c.855C>A (p.Pro285=) c.837C>A (p.Pro279=) c.735C>A (p.Pro245=) c.915C>A (p.Pro305=) c.1017C>A (p.Pro339=) c.957C>A (p.Pro319=) n.4364G>T c.840C>A (p.Pro280=) c.858C>A (p.Pro286=) c.615C>A (p.Pro205=) c.648C>A (p.Pro216=) c.666C>A (p.Pro222=) | dbSNP |
2 | g.127426221C>G | CA428618366 | PROC | c.672C>G (p.Pro224=) c.121-2136C>G c.774C>G (p.Pro258=) n.258C>G c.855C>G (p.Pro285=) c.837C>G (p.Pro279=) c.735C>G (p.Pro245=) c.915C>G (p.Pro305=) c.1017C>G (p.Pro339=) c.957C>G (p.Pro319=) n.4364G>C c.840C>G (p.Pro280=) c.858C>G (p.Pro286=) c.615C>G (p.Pro205=) c.648C>G (p.Pro216=) c.666C>G (p.Pro222=) | |
2 | g.127426221C>T | CA428618365 | PROC | c.672C>T (p.Pro224=) c.121-2136C>T c.774C>T (p.Pro258=) n.258C>T c.855C>T (p.Pro285=) c.837C>T (p.Pro279=) c.735C>T (p.Pro245=) c.915C>T (p.Pro305=) c.1017C>T (p.Pro339=) c.957C>T (p.Pro319=) n.4364G>A c.840C>T (p.Pro280=) c.858C>T (p.Pro286=) c.615C>T (p.Pro205=) c.648C>T (p.Pro216=) c.666C>T (p.Pro222=) | |
2 | g.127426221_127426222delinsCT | CA1286883456 | PROC | c.672_673delinsCT (p.Pro224=) c.121-2136_121-2135delinsCT c.774_775delinsCT (p.Pro258=) n.258_259delinsCT c.855_856delinsCT (p.Pro285=) c.837_838delinsCT (p.Pro279=) c.735_736delinsCT (p.Pro245=) c.915_916delinsCT (p.Pro305=) c.1017_1018delinsCT (p.Pro339=) c.957_958delinsCT (p.Pro319=) n.4363_4364delinsAG c.840_841delinsCT (p.Pro280=) c.858_859delinsCT (p.Pro286=) c.615_616delinsCT (p.Pro205=) c.648_649delinsCT (p.Pro216=) c.666_667delinsCT (p.Pro222=) | |
2 | g.127426222del | CA1286883457 | PROC | c.673del (p.Trp225GlyfsTer25) c.121-2135del c.775del (p.Trp259GlyfsTer25) n.259del c.856del (p.Trp286GlyfsTer25) c.838del (p.Trp280GlyfsTer25) c.736del (p.Trp246GlyfsTer25) c.916del (p.Trp306GlyfsTer25) c.1018del (p.Trp340GlyfsTer25) c.958del (p.Trp320GlyfsTer25) n.4363del c.841del (p.Trp281GlyfsTer25) c.859del (p.Trp287GlyfsTer25) c.616del (p.Trp206GlyfsTer25) c.649del (p.Trp217GlyfsTer25) c.667del (p.Trp223GlyfsTer25) | dbSNP |
2 | g.127426222T>A | CA348401741 | PROC | c.673T>A (p.Trp225Arg) c.121-2135T>A c.775T>A (p.Trp259Arg) n.259T>A c.856T>A (p.Trp286Arg) c.838T>A (p.Trp280Arg) c.736T>A (p.Trp246Arg) c.916T>A (p.Trp306Arg) c.1018T>A (p.Trp340Arg) c.958T>A (p.Trp320Arg) n.4363A>T c.841T>A (p.Trp281Arg) c.859T>A (p.Trp287Arg) c.616T>A (p.Trp206Arg) c.649T>A (p.Trp217Arg) c.667T>A (p.Trp223Arg) | |
2 | g.127426222T>C | CA348401743 | PROC | c.673T>C (p.Trp225Arg) c.121-2135T>C c.775T>C (p.Trp259Arg) n.259T>C c.856T>C (p.Trp286Arg) c.838T>C (p.Trp280Arg) c.736T>C (p.Trp246Arg) c.916T>C (p.Trp306Arg) c.1018T>C (p.Trp340Arg) c.958T>C (p.Trp320Arg) n.4363A>G c.841T>C (p.Trp281Arg) c.859T>C (p.Trp287Arg) c.616T>C (p.Trp206Arg) c.649T>C (p.Trp217Arg) c.667T>C (p.Trp223Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426222T>G | CA348401744 | PROC | c.673T>G (p.Trp225Gly) c.121-2135T>G c.775T>G (p.Trp259Gly) n.259T>G c.856T>G (p.Trp286Gly) c.838T>G (p.Trp280Gly) c.736T>G (p.Trp246Gly) c.916T>G (p.Trp306Gly) c.1018T>G (p.Trp340Gly) c.958T>G (p.Trp320Gly) n.4363A>C c.841T>G (p.Trp281Gly) c.859T>G (p.Trp287Gly) c.616T>G (p.Trp206Gly) c.649T>G (p.Trp217Gly) c.667T>G (p.Trp223Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.127426222T= | CA1286883458 | PROC | c.673T= (p.Trp225=) c.121-2135T= c.775T= (p.Trp259=) n.259T= c.856T= (p.Trp286=) c.838T= (p.Trp280=) c.736T= (p.Trp246=) c.916T= (p.Trp306=) c.1018T= (p.Trp340=) c.958T= (p.Trp320=) n.4363A= c.841T= (p.Trp281=) c.859T= (p.Trp287=) c.616T= (p.Trp206=) c.649T= (p.Trp217=) c.667T= (p.Trp223=) | |
2 | g.127426223G>A | CA348401747 | PROC | c.674G>A (p.Trp225Ter) c.121-2134G>A c.776G>A (p.Trp259Ter) n.260G>A c.857G>A (p.Trp286Ter) c.839G>A (p.Trp280Ter) c.737G>A (p.Trp246Ter) c.917G>A (p.Trp306Ter) c.1019G>A (p.Trp340Ter) c.959G>A (p.Trp320Ter) n.4362C>T c.842G>A (p.Trp281Ter) c.860G>A (p.Trp287Ter) c.617G>A (p.Trp206Ter) c.650G>A (p.Trp217Ter) c.668G>A (p.Trp223Ter) | |
2 | g.127426223G>C | CA348401787 | PROC | c.674G>C (p.Trp225Ser) c.121-2134G>C c.776G>C (p.Trp259Ser) n.260G>C c.857G>C (p.Trp286Ser) c.839G>C (p.Trp280Ser) c.737G>C (p.Trp246Ser) c.917G>C (p.Trp306Ser) c.1019G>C (p.Trp340Ser) c.959G>C (p.Trp320Ser) n.4362C>G c.842G>C (p.Trp281Ser) c.860G>C (p.Trp287Ser) c.617G>C (p.Trp206Ser) c.650G>C (p.Trp217Ser) c.668G>C (p.Trp223Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426223G= | CA1286883459 | PROC | c.674G= (p.Trp225=) c.121-2134G= c.776G= (p.Trp259=) n.260G= c.857G= (p.Trp286=) c.839G= (p.Trp280=) c.737G= (p.Trp246=) c.917G= (p.Trp306=) c.1019G= (p.Trp340=) c.959G= (p.Trp320=) n.4362C= c.842G= (p.Trp281=) c.860G= (p.Trp287=) c.617G= (p.Trp206=) c.650G= (p.Trp217=) c.668G= (p.Trp223=) | |
2 | g.127426223G>T | CA348401789 | PROC | c.674G>T (p.Trp225Leu) c.121-2134G>T c.776G>T (p.Trp259Leu) n.260G>T c.857G>T (p.Trp286Leu) c.839G>T (p.Trp280Leu) c.737G>T (p.Trp246Leu) c.917G>T (p.Trp306Leu) c.1019G>T (p.Trp340Leu) c.959G>T (p.Trp320Leu) n.4362C>A c.842G>T (p.Trp281Leu) c.860G>T (p.Trp287Leu) c.617G>T (p.Trp206Leu) c.650G>T (p.Trp217Leu) c.668G>T (p.Trp223Leu) | |
2 | g.127426224G>A | CA348401792 | PROC | c.675G>A (p.Trp225Ter) c.121-2133G>A c.777G>A (p.Trp259Ter) n.261G>A c.858G>A (p.Trp286Ter) c.840G>A (p.Trp280Ter) c.738G>A (p.Trp246Ter) c.918G>A (p.Trp306Ter) c.1020G>A (p.Trp340Ter) c.960G>A (p.Trp320Ter) n.4361C>T c.843G>A (p.Trp281Ter) c.861G>A (p.Trp287Ter) c.618G>A (p.Trp206Ter) c.651G>A (p.Trp217Ter) c.669G>A (p.Trp223Ter) | ClinVar dbSNP |
2 | g.127426224G>C | CA1859405 | PROC | c.675G>C (p.Trp225Cys) c.121-2133G>C c.777G>C (p.Trp259Cys) n.261G>C c.858G>C (p.Trp286Cys) c.840G>C (p.Trp280Cys) c.738G>C (p.Trp246Cys) c.918G>C (p.Trp306Cys) c.1020G>C (p.Trp340Cys) c.960G>C (p.Trp320Cys) n.4361C>G c.843G>C (p.Trp281Cys) c.861G>C (p.Trp287Cys) c.618G>C (p.Trp206Cys) c.651G>C (p.Trp217Cys) c.669G>C (p.Trp223Cys) | dbSNP ExAC gnomAD v2 |
2 | g.127426224G= | CA1286883460 | PROC | c.675G= (p.Trp225=) c.121-2133G= c.777G= (p.Trp259=) n.261G= c.858G= (p.Trp286=) c.840G= (p.Trp280=) c.738G= (p.Trp246=) c.918G= (p.Trp306=) c.1020G= (p.Trp340=) c.960G= (p.Trp320=) n.4361C= c.843G= (p.Trp281=) c.861G= (p.Trp287=) c.618G= (p.Trp206=) c.651G= (p.Trp217=) c.669G= (p.Trp223=) | |
2 | g.127426224G>T | CA348401801 | PROC | c.675G>T (p.Trp225Cys) c.121-2133G>T c.777G>T (p.Trp259Cys) n.261G>T c.858G>T (p.Trp286Cys) c.840G>T (p.Trp280Cys) c.738G>T (p.Trp246Cys) c.918G>T (p.Trp306Cys) c.1020G>T (p.Trp340Cys) c.960G>T (p.Trp320Cys) n.4361C>A c.843G>T (p.Trp281Cys) c.861G>T (p.Trp287Cys) c.618G>T (p.Trp206Cys) c.651G>T (p.Trp217Cys) c.669G>T (p.Trp223Cys) | |
2 | g.127426225C>A | CA348401817 | PROC | c.676C>A (p.Gln226Lys) c.121-2132C>A c.778C>A (p.Gln260Lys) n.262C>A c.859C>A (p.Gln287Lys) c.841C>A (p.Gln281Lys) c.739C>A (p.Gln247Lys) c.919C>A (p.Gln307Lys) c.1021C>A (p.Gln341Lys) c.961C>A (p.Gln321Lys) n.4360G>T c.844C>A (p.Gln282Lys) c.862C>A (p.Gln288Lys) c.619C>A (p.Gln207Lys) c.652C>A (p.Gln218Lys) c.670C>A (p.Gln224Lys) | |
2 | g.127426225C>G | CA348401812 | PROC | c.676C>G (p.Gln226Glu) c.121-2132C>G c.778C>G (p.Gln260Glu) n.262C>G c.859C>G (p.Gln287Glu) c.841C>G (p.Gln281Glu) c.739C>G (p.Gln247Glu) c.919C>G (p.Gln307Glu) c.1021C>G (p.Gln341Glu) c.961C>G (p.Gln321Glu) n.4360G>C c.844C>G (p.Gln282Glu) c.862C>G (p.Gln288Glu) c.619C>G (p.Gln207Glu) c.652C>G (p.Gln218Glu) c.670C>G (p.Gln224Glu) | |
2 | g.127426225C>T | CA348401814 | PROC | c.676C>T (p.Gln226Ter) c.121-2132C>T c.778C>T (p.Gln260Ter) n.262C>T c.859C>T (p.Gln287Ter) c.841C>T (p.Gln281Ter) c.739C>T (p.Gln247Ter) c.919C>T (p.Gln307Ter) c.1021C>T (p.Gln341Ter) c.961C>T (p.Gln321Ter) n.4360G>A c.844C>T (p.Gln282Ter) c.862C>T (p.Gln288Ter) c.619C>T (p.Gln207Ter) c.652C>T (p.Gln218Ter) c.670C>T (p.Gln224Ter) | |
2 | g.127426226A>C | CA348401820 | PROC | c.677A>C (p.Gln226Pro) c.121-2131A>C c.779A>C (p.Gln260Pro) n.263A>C c.860A>C (p.Gln287Pro) c.842A>C (p.Gln281Pro) c.740A>C (p.Gln247Pro) c.920A>C (p.Gln307Pro) c.1022A>C (p.Gln341Pro) c.962A>C (p.Gln321Pro) n.4359T>G c.845A>C (p.Gln282Pro) c.863A>C (p.Gln288Pro) c.620A>C (p.Gln207Pro) c.653A>C (p.Gln218Pro) c.671A>C (p.Gln224Pro) | |
2 | g.127426226A>G | CA348401823 | PROC | c.677A>G (p.Gln226Arg) c.121-2131A>G c.779A>G (p.Gln260Arg) n.263A>G c.860A>G (p.Gln287Arg) c.842A>G (p.Gln281Arg) c.740A>G (p.Gln247Arg) c.920A>G (p.Gln307Arg) c.1022A>G (p.Gln341Arg) c.962A>G (p.Gln321Arg) n.4359T>C c.845A>G (p.Gln282Arg) c.863A>G (p.Gln288Arg) c.620A>G (p.Gln207Arg) c.653A>G (p.Gln218Arg) c.671A>G (p.Gln224Arg) | ClinVar dbSNP |
2 | g.127426226A>T | CA348401825 | PROC | c.677A>T (p.Gln226Leu) c.121-2131A>T c.779A>T (p.Gln260Leu) n.263A>T c.860A>T (p.Gln287Leu) c.842A>T (p.Gln281Leu) c.740A>T (p.Gln247Leu) c.920A>T (p.Gln307Leu) c.1022A>T (p.Gln341Leu) c.962A>T (p.Gln321Leu) n.4359T>A c.845A>T (p.Gln282Leu) c.863A>T (p.Gln288Leu) c.620A>T (p.Gln207Leu) c.653A>T (p.Gln218Leu) c.671A>T (p.Gln224Leu) | |
2 | g.127426227G>A | CA428618368 | PROC | c.678G>A (p.Gln226=) c.121-2130G>A c.780G>A (p.Gln260=) n.264G>A c.861G>A (p.Gln287=) c.843G>A (p.Gln281=) c.741G>A (p.Gln247=) c.921G>A (p.Gln307=) c.1023G>A (p.Gln341=) c.963G>A (p.Gln321=) n.4358C>T c.846G>A (p.Gln282=) c.864G>A (p.Gln288=) c.621G>A (p.Gln207=) c.654G>A (p.Gln218=) c.672G>A (p.Gln224=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426227G>C | CA114416 | PROC | c.678G>C (p.Gln226His) c.121-2130G>C c.780G>C (p.Gln260His) n.264G>C c.861G>C (p.Gln287His) c.843G>C (p.Gln281His) c.741G>C (p.Gln247His) c.921G>C (p.Gln307His) c.1023G>C (p.Gln341His) c.963G>C (p.Gln321His) n.4358C>G c.846G>C (p.Gln282His) c.864G>C (p.Gln288His) c.621G>C (p.Gln207His) c.654G>C (p.Gln218His) c.672G>C (p.Gln224His) | ClinVar dbSNP |
2 | g.127426227G= | CA1286883461 | PROC | c.678G= (p.Gln226=) c.121-2130G= c.780G= (p.Gln260=) n.264G= c.861G= (p.Gln287=) c.843G= (p.Gln281=) c.741G= (p.Gln247=) c.921G= (p.Gln307=) c.1023G= (p.Gln341=) c.963G= (p.Gln321=) n.4358C= c.846G= (p.Gln282=) c.864G= (p.Gln288=) c.621G= (p.Gln207=) c.654G= (p.Gln218=) c.672G= (p.Gln224=) | |
2 | g.127426227G>T | CA348401830 | PROC | c.678G>T (p.Gln226His) c.121-2130G>T c.780G>T (p.Gln260His) n.264G>T c.861G>T (p.Gln287His) c.843G>T (p.Gln281His) c.741G>T (p.Gln247His) c.921G>T (p.Gln307His) c.1023G>T (p.Gln341His) c.963G>T (p.Gln321His) n.4358C>A c.846G>T (p.Gln282His) c.864G>T (p.Gln288His) c.621G>T (p.Gln207His) c.654G>T (p.Gln218His) c.672G>T (p.Gln224His) | |
2 | g.127426228G>A | CA1859406 | PROC | c.678+1G>A (n.678+1G>A) c.121-2129G>A c.780+1G>A (n.780+1G>A) n.265G>A c.861+1G>A (n.861+1G>A) c.843+1G>A (n.843+1G>A) c.741+1G>A (n.741+1G>A) c.921+1G>A (n.921+1G>A) c.1023+1G>A (n.1023+1G>A) c.963+1G>A (n.963+1G>A) n.4357C>T c.846+1G>A (n.846+1G>A) c.864+1G>A (n.864+1G>A) c.621+1G>A (n.621+1G>A) c.654+1G>A (n.654+1G>A) c.672+1G>A (n.672+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426228G>C | CA348401835 | PROC | c.678+1G>C (n.678+1G>C) c.121-2129G>C c.780+1G>C (n.780+1G>C) n.265G>C c.861+1G>C (n.861+1G>C) c.843+1G>C (n.843+1G>C) c.741+1G>C (n.741+1G>C) c.921+1G>C (n.921+1G>C) c.1023+1G>C (n.1023+1G>C) c.963+1G>C (n.963+1G>C) n.4357C>G c.846+1G>C (n.846+1G>C) c.864+1G>C (n.864+1G>C) c.621+1G>C (n.621+1G>C) c.654+1G>C (n.654+1G>C) c.672+1G>C (n.672+1G>C) | gnomAD v4 |
2 | g.127426228G= | CA1286883462 | PROC | c.678+1G= (n.678+1G=) c.121-2129G= c.780+1G= (n.780+1G=) n.265G= c.861+1G= (n.861+1G=) c.843+1G= (n.843+1G=) c.741+1G= (n.741+1G=) c.921+1G= (n.921+1G=) c.1023+1G= (n.1023+1G=) c.963+1G= (n.963+1G=) n.4357C= c.846+1G= (n.846+1G=) c.864+1G= (n.864+1G=) c.621+1G= (n.621+1G=) c.654+1G= (n.654+1G=) c.672+1G= (n.672+1G=) | |
2 | g.127426228G>T | CA348401837 | PROC | c.678+1G>T (n.678+1G>T) c.121-2129G>T c.780+1G>T (n.780+1G>T) n.265G>T c.861+1G>T (n.861+1G>T) c.843+1G>T (n.843+1G>T) c.741+1G>T (n.741+1G>T) c.921+1G>T (n.921+1G>T) c.1023+1G>T (n.1023+1G>T) c.963+1G>T (n.963+1G>T) n.4357C>A c.846+1G>T (n.846+1G>T) c.864+1G>T (n.864+1G>T) c.621+1G>T (n.621+1G>T) c.654+1G>T (n.654+1G>T) c.672+1G>T (n.672+1G>T) |