Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127426107C>A | CA428618197 | PROC | c.558C>A (p.Pro186=) c.121-2250C>A c.660C>A (p.Pro220=) c.501C>A (p.Pro167=) n.144C>A c.741C>A (p.Pro247=) c.723C>A (p.Pro241=) c.621C>A (p.Pro207=) c.801C>A (p.Pro267=) c.903C>A (p.Pro301=) c.843C>A (p.Pro281=) n.4478G>T c.726C>A (p.Pro242=) c.744C>A (p.Pro248=) c.534C>A (p.Pro178=) c.552C>A (p.Pro184=) | |
2 | g.127426107C>G | CA428618198 | PROC | c.558C>G (p.Pro186=) c.121-2250C>G c.660C>G (p.Pro220=) c.501C>G (p.Pro167=) n.144C>G c.741C>G (p.Pro247=) c.723C>G (p.Pro241=) c.621C>G (p.Pro207=) c.801C>G (p.Pro267=) c.903C>G (p.Pro301=) c.843C>G (p.Pro281=) n.4478G>C c.726C>G (p.Pro242=) c.744C>G (p.Pro248=) c.534C>G (p.Pro178=) c.552C>G (p.Pro184=) | |
2 | g.127426107C>T | CA428618199 | PROC | c.558C>T (p.Pro186=) c.121-2250C>T c.660C>T (p.Pro220=) c.501C>T (p.Pro167=) n.144C>T c.741C>T (p.Pro247=) c.723C>T (p.Pro241=) c.621C>T (p.Pro207=) c.801C>T (p.Pro267=) c.903C>T (p.Pro301=) c.843C>T (p.Pro281=) n.4478G>A c.726C>T (p.Pro242=) c.744C>T (p.Pro248=) c.534C>T (p.Pro178=) c.552C>T (p.Pro184=) | gnomAD v4 |
2 | g.127426108T>A | CA348401063 | PROC | c.559T>A (p.Trp187Arg) c.121-2249T>A c.661T>A (p.Trp221Arg) c.502T>A (p.Trp168Arg) n.145T>A c.742T>A (p.Trp248Arg) c.724T>A (p.Trp242Arg) c.622T>A (p.Trp208Arg) c.802T>A (p.Trp268Arg) c.904T>A (p.Trp302Arg) c.844T>A (p.Trp282Arg) n.4477A>T c.727T>A (p.Trp243Arg) c.745T>A (p.Trp249Arg) c.535T>A (p.Trp179Arg) c.553T>A (p.Trp185Arg) | |
2 | g.127426108T>C | CA348401058 | PROC | c.559T>C (p.Trp187Arg) c.121-2249T>C c.661T>C (p.Trp221Arg) c.502T>C (p.Trp168Arg) n.145T>C c.742T>C (p.Trp248Arg) c.724T>C (p.Trp242Arg) c.622T>C (p.Trp208Arg) c.802T>C (p.Trp268Arg) c.904T>C (p.Trp302Arg) c.844T>C (p.Trp282Arg) n.4477A>G c.727T>C (p.Trp243Arg) c.745T>C (p.Trp249Arg) c.535T>C (p.Trp179Arg) c.553T>C (p.Trp185Arg) | |
2 | g.127426108T>G | CA348401060 | PROC | c.559T>G (p.Trp187Gly) c.121-2249T>G c.661T>G (p.Trp221Gly) c.502T>G (p.Trp168Gly) n.145T>G c.742T>G (p.Trp248Gly) c.724T>G (p.Trp242Gly) c.622T>G (p.Trp208Gly) c.802T>G (p.Trp268Gly) c.904T>G (p.Trp302Gly) c.844T>G (p.Trp282Gly) n.4477A>C c.727T>G (p.Trp243Gly) c.745T>G (p.Trp249Gly) c.535T>G (p.Trp179Gly) c.553T>G (p.Trp185Gly) | |
2 | g.127426109G>A | CA55348218 | PROC | c.560G>A (p.Trp187Ter) c.121-2248G>A c.662G>A (p.Trp221Ter) c.503G>A (p.Trp168Ter) n.146G>A c.743G>A (p.Trp248Ter) c.725G>A (p.Trp242Ter) c.623G>A (p.Trp208Ter) c.803G>A (p.Trp268Ter) c.905G>A (p.Trp302Ter) c.845G>A (p.Trp282Ter) n.4476C>T c.728G>A (p.Trp243Ter) c.746G>A (p.Trp249Ter) c.536G>A (p.Trp179Ter) c.554G>A (p.Trp185Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426109G>C | CA348401068 | PROC | c.560G>C (p.Trp187Ser) c.121-2248G>C c.662G>C (p.Trp221Ser) c.503G>C (p.Trp168Ser) n.146G>C c.743G>C (p.Trp248Ser) c.725G>C (p.Trp242Ser) c.623G>C (p.Trp208Ser) c.803G>C (p.Trp268Ser) c.905G>C (p.Trp302Ser) c.845G>C (p.Trp282Ser) n.4476C>G c.728G>C (p.Trp243Ser) c.746G>C (p.Trp249Ser) c.536G>C (p.Trp179Ser) c.554G>C (p.Trp185Ser) | |
2 | g.127426109G= | CA1286883403 | PROC | c.560G= (p.Trp187=) c.121-2248G= c.662G= (p.Trp221=) c.503G= (p.Trp168=) n.146G= c.743G= (p.Trp248=) c.725G= (p.Trp242=) c.623G= (p.Trp208=) c.803G= (p.Trp268=) c.905G= (p.Trp302=) c.845G= (p.Trp282=) n.4476C= c.728G= (p.Trp243=) c.746G= (p.Trp249=) c.536G= (p.Trp179=) c.554G= (p.Trp185=) | |
2 | g.127426109G>T | CA348401071 | PROC | c.560G>T (p.Trp187Leu) c.121-2248G>T c.662G>T (p.Trp221Leu) c.503G>T (p.Trp168Leu) n.146G>T c.743G>T (p.Trp248Leu) c.725G>T (p.Trp242Leu) c.623G>T (p.Trp208Leu) c.803G>T (p.Trp268Leu) c.905G>T (p.Trp302Leu) c.845G>T (p.Trp282Leu) n.4476C>A c.728G>T (p.Trp243Leu) c.746G>T (p.Trp249Leu) c.536G>T (p.Trp179Leu) c.554G>T (p.Trp185Leu) | |
2 | g.127426110G>A | CA348401073 | PROC | c.561G>A (p.Trp187Ter) c.121-2247G>A c.663G>A (p.Trp221Ter) c.504G>A (p.Trp168Ter) n.147G>A c.744G>A (p.Trp248Ter) c.726G>A (p.Trp242Ter) c.624G>A (p.Trp208Ter) c.804G>A (p.Trp268Ter) c.906G>A (p.Trp302Ter) c.846G>A (p.Trp282Ter) n.4475C>T c.729G>A (p.Trp243Ter) c.747G>A (p.Trp249Ter) c.537G>A (p.Trp179Ter) c.555G>A (p.Trp185Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426110G>C | CA348401076 | PROC | c.561G>C (p.Trp187Cys) c.121-2247G>C c.663G>C (p.Trp221Cys) c.504G>C (p.Trp168Cys) n.147G>C c.744G>C (p.Trp248Cys) c.726G>C (p.Trp242Cys) c.624G>C (p.Trp208Cys) c.804G>C (p.Trp268Cys) c.906G>C (p.Trp302Cys) c.846G>C (p.Trp282Cys) n.4475C>G c.729G>C (p.Trp243Cys) c.747G>C (p.Trp249Cys) c.537G>C (p.Trp179Cys) c.555G>C (p.Trp185Cys) | |
2 | g.127426110G= | CA1286883404 | PROC | c.561G= (p.Trp187=) c.121-2247G= c.663G= (p.Trp221=) c.504G= (p.Trp168=) n.147G= c.744G= (p.Trp248=) c.726G= (p.Trp242=) c.624G= (p.Trp208=) c.804G= (p.Trp268=) c.906G= (p.Trp302=) c.846G= (p.Trp282=) n.4475C= c.729G= (p.Trp243=) c.747G= (p.Trp249=) c.537G= (p.Trp179=) c.555G= (p.Trp185=) | |
2 | g.127426110G>T | CA348401078 | PROC | c.561G>T (p.Trp187Cys) c.121-2247G>T c.663G>T (p.Trp221Cys) c.504G>T (p.Trp168Cys) n.147G>T c.744G>T (p.Trp248Cys) c.726G>T (p.Trp242Cys) c.624G>T (p.Trp208Cys) c.804G>T (p.Trp268Cys) c.906G>T (p.Trp302Cys) c.846G>T (p.Trp282Cys) n.4475C>A c.729G>T (p.Trp243Cys) c.747G>T (p.Trp249Cys) c.537G>T (p.Trp179Cys) c.555G>T (p.Trp185Cys) | |
2 | g.127426110_127426111delinsGA | CA1286883405 | PROC | c.561_562delinsGA (p.Trp187=) c.121-2247_121-2246delinsGA c.663_664delinsGA (p.Trp221=) c.504_505delinsGA (p.Trp168=) n.147_148delinsGA c.744_745delinsGA (p.Trp248=) c.726_727delinsGA (p.Trp242=) c.624_625delinsGA (p.Trp208=) c.804_805delinsGA (p.Trp268=) c.906_907delinsGA (p.Trp302=) c.846_847delinsGA (p.Trp282=) n.4474_4475delinsTC c.729_730delinsGA (p.Trp243=) c.747_748delinsGA (p.Trp249=) c.537_538delinsGA (p.Trp179=) c.555_556delinsGA (p.Trp185=) | |
2 | g.127426111A>C | CA348401082 | PROC | c.562A>C (p.Lys188Gln) c.121-2246A>C c.664A>C (p.Lys222Gln) c.505A>C (p.Lys169Gln) n.148A>C c.745A>C (p.Lys249Gln) c.727A>C (p.Lys243Gln) c.625A>C (p.Lys209Gln) c.805A>C (p.Lys269Gln) c.907A>C (p.Lys303Gln) c.847A>C (p.Lys283Gln) n.4474T>G c.730A>C (p.Lys244Gln) c.748A>C (p.Lys250Gln) c.538A>C (p.Lys180Gln) c.556A>C (p.Lys186Gln) | |
2 | g.127426111A>G | CA348401083 | PROC | c.562A>G (p.Lys188Glu) c.121-2246A>G c.664A>G (p.Lys222Glu) c.505A>G (p.Lys169Glu) n.148A>G c.745A>G (p.Lys249Glu) c.727A>G (p.Lys243Glu) c.625A>G (p.Lys209Glu) c.805A>G (p.Lys269Glu) c.907A>G (p.Lys303Glu) c.847A>G (p.Lys283Glu) n.4474T>C c.730A>G (p.Lys244Glu) c.748A>G (p.Lys250Glu) c.538A>G (p.Lys180Glu) c.556A>G (p.Lys186Glu) | gnomAD v4 |
2 | g.127426111A>T | CA348401086 | PROC | c.562A>T (p.Lys188Ter) c.121-2246A>T c.664A>T (p.Lys222Ter) c.505A>T (p.Lys169Ter) n.148A>T c.745A>T (p.Lys249Ter) c.727A>T (p.Lys243Ter) c.625A>T (p.Lys209Ter) c.805A>T (p.Lys269Ter) c.907A>T (p.Lys303Ter) c.847A>T (p.Lys283Ter) n.4474T>A c.730A>T (p.Lys244Ter) c.748A>T (p.Lys250Ter) c.538A>T (p.Lys180Ter) c.556A>T (p.Lys186Ter) | |
2 | g.127426112del | CA535639811 | PROC | c.563del (p.Lys188SerfsTer10) c.121-2245del c.665del (p.Lys222SerfsTer10) c.506del (p.Lys169SerfsTer?) n.149del c.746del (p.Lys249SerfsTer10) c.728del (p.Lys243SerfsTer10) c.626del (p.Lys209SerfsTer10) c.806del (p.Lys269SerfsTer10) c.908del (p.Lys303SerfsTer10) c.848del (p.Lys283SerfsTer10) n.4474del c.731del (p.Lys244SerfsTer10) c.749del (p.Lys250SerfsTer10) c.506del (p.Lys169SerfsTer10) c.539del (p.Lys180SerfsTer10) c.557del (p.Lys186SerfsTer10) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127426112A= | CA1286883406 | PROC | c.563A= (p.Lys188=) c.121-2245A= c.665A= (p.Lys222=) c.506A= (p.Lys169=) n.149A= c.746A= (p.Lys249=) c.728A= (p.Lys243=) c.626A= (p.Lys209=) c.806A= (p.Lys269=) c.908A= (p.Lys303=) c.848A= (p.Lys283=) n.4473T= c.731A= (p.Lys244=) c.749A= (p.Lys250=) c.539A= (p.Lys180=) c.557A= (p.Lys186=) | |
2 | g.127426112A>C | CA348401089 | PROC | c.563A>C (p.Lys188Thr) c.121-2245A>C c.665A>C (p.Lys222Thr) c.506A>C (p.Lys169Thr) n.149A>C c.746A>C (p.Lys249Thr) c.728A>C (p.Lys243Thr) c.626A>C (p.Lys209Thr) c.806A>C (p.Lys269Thr) c.908A>C (p.Lys303Thr) c.848A>C (p.Lys283Thr) n.4473T>G c.731A>C (p.Lys244Thr) c.749A>C (p.Lys250Thr) c.539A>C (p.Lys180Thr) c.557A>C (p.Lys186Thr) | |
2 | g.127426112A>G | CA1859387 | PROC | c.563A>G (p.Lys188Arg) c.121-2245A>G c.665A>G (p.Lys222Arg) c.506A>G (p.Lys169Arg) n.149A>G c.746A>G (p.Lys249Arg) c.728A>G (p.Lys243Arg) c.626A>G (p.Lys209Arg) c.806A>G (p.Lys269Arg) c.908A>G (p.Lys303Arg) c.848A>G (p.Lys283Arg) n.4473T>C c.731A>G (p.Lys244Arg) c.749A>G (p.Lys250Arg) c.539A>G (p.Lys180Arg) c.557A>G (p.Lys186Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426112A>T | CA348401094 | PROC | c.563A>T (p.Lys188Met) c.121-2245A>T c.665A>T (p.Lys222Met) c.506A>T (p.Lys169Met) n.149A>T c.746A>T (p.Lys249Met) c.728A>T (p.Lys243Met) c.626A>T (p.Lys209Met) c.806A>T (p.Lys269Met) c.908A>T (p.Lys303Met) c.848A>T (p.Lys283Met) n.4473T>A c.731A>T (p.Lys244Met) c.749A>T (p.Lys250Met) c.539A>T (p.Lys180Met) c.557A>T (p.Lys186Met) | |
2 | g.127426113G>A | CA428618203 | PROC | c.564G>A (p.Lys188=) c.121-2244G>A c.666G>A (p.Lys222=) c.507G>A (p.Lys169=) n.150G>A c.747G>A (p.Lys249=) c.729G>A (p.Lys243=) c.627G>A (p.Lys209=) c.807G>A (p.Lys269=) c.909G>A (p.Lys303=) c.849G>A (p.Lys283=) n.4472C>T c.732G>A (p.Lys244=) c.750G>A (p.Lys250=) c.540G>A (p.Lys180=) c.558G>A (p.Lys186=) | |
2 | g.127426113G>C | CA348401096 | PROC | c.564G>C (p.Lys188Asn) c.121-2244G>C c.666G>C (p.Lys222Asn) c.507G>C (p.Lys169Asn) n.150G>C c.747G>C (p.Lys249Asn) c.729G>C (p.Lys243Asn) c.627G>C (p.Lys209Asn) c.807G>C (p.Lys269Asn) c.909G>C (p.Lys303Asn) c.849G>C (p.Lys283Asn) n.4472C>G c.732G>C (p.Lys244Asn) c.750G>C (p.Lys250Asn) c.540G>C (p.Lys180Asn) c.558G>C (p.Lys186Asn) | |
2 | g.127426113G>T | CA348401095 | PROC | c.564G>T (p.Lys188Asn) c.121-2244G>T c.666G>T (p.Lys222Asn) c.507G>T (p.Lys169Asn) n.150G>T c.747G>T (p.Lys249Asn) c.729G>T (p.Lys243Asn) c.627G>T (p.Lys209Asn) c.807G>T (p.Lys269Asn) c.909G>T (p.Lys303Asn) c.849G>T (p.Lys283Asn) n.4472C>A c.732G>T (p.Lys244Asn) c.750G>T (p.Lys250Asn) c.540G>T (p.Lys180Asn) c.558G>T (p.Lys186Asn) | gnomAD v4 |
2 | g.127426114C>A | CA428618204 | PROC | c.565C>A (p.Arg189=) c.121-2243C>A c.667C>A (p.Arg223=) c.508C>A (p.Arg170=) n.151C>A c.748C>A (p.Arg250=) c.730C>A (p.Arg244=) c.628C>A (p.Arg210=) c.808C>A (p.Arg270=) c.910C>A (p.Arg304=) c.850C>A (p.Arg284=) n.4471G>T c.733C>A (p.Arg245=) c.751C>A (p.Arg251=) c.541C>A (p.Arg181=) c.559C>A (p.Arg187=) | |
2 | g.127426114C= | CA1286883407 | PROC | c.565C= (p.Arg189=) c.121-2243C= c.667C= (p.Arg223=) c.508C= (p.Arg170=) n.151C= c.748C= (p.Arg250=) c.730C= (p.Arg244=) c.628C= (p.Arg210=) c.808C= (p.Arg270=) c.910C= (p.Arg304=) c.850C= (p.Arg284=) n.4471G= c.733C= (p.Arg245=) c.751C= (p.Arg251=) c.541C= (p.Arg181=) c.559C= (p.Arg187=) | |
2 | g.127426114C>G | CA348401100 | PROC | c.565C>G (p.Arg189Gly) c.121-2243C>G c.667C>G (p.Arg223Gly) c.508C>G (p.Arg170Gly) n.151C>G c.748C>G (p.Arg250Gly) c.730C>G (p.Arg244Gly) c.628C>G (p.Arg210Gly) c.808C>G (p.Arg270Gly) c.910C>G (p.Arg304Gly) c.850C>G (p.Arg284Gly) n.4471G>C c.733C>G (p.Arg245Gly) c.751C>G (p.Arg251Gly) c.541C>G (p.Arg181Gly) c.559C>G (p.Arg187Gly) | |
2 | g.127426114C>T | CA211732 | PROC | c.565C>T (p.Arg189Trp) c.121-2243C>T c.667C>T (p.Arg223Trp) c.508C>T (p.Arg170Trp) n.151C>T c.748C>T (p.Arg250Trp) c.730C>T (p.Arg244Trp) c.628C>T (p.Arg210Trp) c.808C>T (p.Arg270Trp) c.910C>T (p.Arg304Trp) c.850C>T (p.Arg284Trp) n.4471G>A c.733C>T (p.Arg245Trp) c.751C>T (p.Arg251Trp) c.541C>T (p.Arg181Trp) c.559C>T (p.Arg187Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426115G>A | CA348401104 | PROC | c.566G>A (p.Arg189Gln) c.121-2242G>A c.668G>A (p.Arg223Gln) c.509G>A (p.Arg170Gln) n.152G>A c.749G>A (p.Arg250Gln) c.731G>A (p.Arg244Gln) c.629G>A (p.Arg210Gln) c.809G>A (p.Arg270Gln) c.911G>A (p.Arg304Gln) c.851G>A (p.Arg284Gln) n.4470C>T c.734G>A (p.Arg245Gln) c.752G>A (p.Arg251Gln) c.542G>A (p.Arg181Gln) c.560G>A (p.Arg187Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127426115G>C | CA348401106 | PROC | c.566G>C (p.Arg189Pro) c.121-2242G>C c.668G>C (p.Arg223Pro) c.509G>C (p.Arg170Pro) n.152G>C c.749G>C (p.Arg250Pro) c.731G>C (p.Arg244Pro) c.629G>C (p.Arg210Pro) c.809G>C (p.Arg270Pro) c.911G>C (p.Arg304Pro) c.851G>C (p.Arg284Pro) n.4470C>G c.734G>C (p.Arg245Pro) c.752G>C (p.Arg251Pro) c.542G>C (p.Arg181Pro) c.560G>C (p.Arg187Pro) | |
2 | g.127426115G= | CA1286883408 | PROC | c.566G= (p.Arg189=) c.121-2242G= c.668G= (p.Arg223=) c.509G= (p.Arg170=) n.152G= c.749G= (p.Arg250=) c.731G= (p.Arg244=) c.629G= (p.Arg210=) c.809G= (p.Arg270=) c.911G= (p.Arg304=) c.851G= (p.Arg284=) n.4470C= c.734G= (p.Arg245=) c.752G= (p.Arg251=) c.542G= (p.Arg181=) c.560G= (p.Arg187=) | |
2 | g.127426115G>T | CA348401108 | PROC | c.566G>T (p.Arg189Leu) c.121-2242G>T c.668G>T (p.Arg223Leu) c.509G>T (p.Arg170Leu) n.152G>T c.749G>T (p.Arg250Leu) c.731G>T (p.Arg244Leu) c.629G>T (p.Arg210Leu) c.809G>T (p.Arg270Leu) c.911G>T (p.Arg304Leu) c.851G>T (p.Arg284Leu) n.4470C>A c.734G>T (p.Arg245Leu) c.752G>T (p.Arg251Leu) c.542G>T (p.Arg181Leu) c.560G>T (p.Arg187Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127426116del | CA2586969897 | PROC | c.567del (p.Met190TrpfsTer8) c.121-2241del c.669del (p.Met224TrpfsTer8) c.510del (p.Met171TrpfsTer?) n.153del c.750del (p.Met251TrpfsTer8) c.732del (p.Met245TrpfsTer8) c.630del (p.Met211TrpfsTer8) c.810del (p.Met271TrpfsTer8) c.912del (p.Met305TrpfsTer8) c.852del (p.Met285TrpfsTer8) n.4470del c.735del (p.Met246TrpfsTer8) c.753del (p.Met252TrpfsTer8) c.510del (p.Met171TrpfsTer8) c.543del (p.Met182TrpfsTer8) c.561del (p.Met188TrpfsTer8) | |
2 | g.127426116G>A | CA428618211 | PROC | c.567G>A (p.Arg189=) c.121-2241G>A c.669G>A (p.Arg223=) c.510G>A (p.Arg170=) n.153G>A c.750G>A (p.Arg250=) c.732G>A (p.Arg244=) c.630G>A (p.Arg210=) c.810G>A (p.Arg270=) c.912G>A (p.Arg304=) c.852G>A (p.Arg284=) n.4469C>T c.735G>A (p.Arg245=) c.753G>A (p.Arg251=) c.543G>A (p.Arg181=) c.561G>A (p.Arg187=) | |
2 | g.127426116G>C | CA428618209 | PROC | c.567G>C (p.Arg189=) c.121-2241G>C c.669G>C (p.Arg223=) c.510G>C (p.Arg170=) n.153G>C c.750G>C (p.Arg250=) c.732G>C (p.Arg244=) c.630G>C (p.Arg210=) c.810G>C (p.Arg270=) c.912G>C (p.Arg304=) c.852G>C (p.Arg284=) n.4469C>G c.735G>C (p.Arg245=) c.753G>C (p.Arg251=) c.543G>C (p.Arg181=) c.561G>C (p.Arg187=) | |
2 | g.127426116G>T | CA428618210 | PROC | c.567G>T (p.Arg189=) c.121-2241G>T c.669G>T (p.Arg223=) c.510G>T (p.Arg170=) n.153G>T c.750G>T (p.Arg250=) c.732G>T (p.Arg244=) c.630G>T (p.Arg210=) c.810G>T (p.Arg270=) c.912G>T (p.Arg304=) c.852G>T (p.Arg284=) n.4469C>A c.735G>T (p.Arg245=) c.753G>T (p.Arg251=) c.543G>T (p.Arg181=) c.561G>T (p.Arg187=) | |
2 | g.127426117A>C | CA348401112 | PROC | c.568A>C (p.Met190Leu) c.121-2240A>C c.670A>C (p.Met224Leu) c.511A>C (p.Met171Leu) n.154A>C c.751A>C (p.Met251Leu) c.733A>C (p.Met245Leu) c.631A>C (p.Met211Leu) c.811A>C (p.Met271Leu) c.913A>C (p.Met305Leu) c.853A>C (p.Met285Leu) n.4468T>G c.736A>C (p.Met246Leu) c.754A>C (p.Met252Leu) c.544A>C (p.Met182Leu) c.562A>C (p.Met188Leu) | |
2 | g.127426117A>G | CA348401114 | PROC | c.568A>G (p.Met190Val) c.121-2240A>G c.670A>G (p.Met224Val) c.511A>G (p.Met171Val) n.154A>G c.751A>G (p.Met251Val) c.733A>G (p.Met245Val) c.631A>G (p.Met211Val) c.811A>G (p.Met271Val) c.913A>G (p.Met305Val) c.853A>G (p.Met285Val) n.4468T>C c.736A>G (p.Met246Val) c.754A>G (p.Met252Val) c.544A>G (p.Met182Val) c.562A>G (p.Met188Val) | gnomAD v4 |
2 | g.127426117A>T | CA348401116 | PROC | c.568A>T (p.Met190Leu) c.121-2240A>T c.670A>T (p.Met224Leu) c.511A>T (p.Met171Leu) n.154A>T c.751A>T (p.Met251Leu) c.733A>T (p.Met245Leu) c.631A>T (p.Met211Leu) c.811A>T (p.Met271Leu) c.913A>T (p.Met305Leu) c.853A>T (p.Met285Leu) n.4468T>A c.736A>T (p.Met246Leu) c.754A>T (p.Met252Leu) c.544A>T (p.Met182Leu) c.562A>T (p.Met188Leu) | |
2 | g.127426118T>A | CA348401122 | PROC | c.569T>A (p.Met190Lys) c.121-2239T>A c.671T>A (p.Met224Lys) c.512T>A (p.Met171Lys) n.155T>A c.752T>A (p.Met251Lys) c.734T>A (p.Met245Lys) c.632T>A (p.Met211Lys) c.812T>A (p.Met271Lys) c.914T>A (p.Met305Lys) c.854T>A (p.Met285Lys) n.4467A>T c.737T>A (p.Met246Lys) c.755T>A (p.Met252Lys) c.545T>A (p.Met182Lys) c.563T>A (p.Met188Lys) | |
2 | g.127426118T>C | CA348401120 | PROC | c.569T>C (p.Met190Thr) c.121-2239T>C c.671T>C (p.Met224Thr) c.512T>C (p.Met171Thr) n.155T>C c.752T>C (p.Met251Thr) c.734T>C (p.Met245Thr) c.632T>C (p.Met211Thr) c.812T>C (p.Met271Thr) c.914T>C (p.Met305Thr) c.854T>C (p.Met285Thr) n.4467A>G c.737T>C (p.Met246Thr) c.755T>C (p.Met252Thr) c.545T>C (p.Met182Thr) c.563T>C (p.Met188Thr) | dbSNP |
2 | g.127426118T>G | CA348401119 | PROC | c.569T>G (p.Met190Arg) c.121-2239T>G c.671T>G (p.Met224Arg) c.512T>G (p.Met171Arg) n.155T>G c.752T>G (p.Met251Arg) c.734T>G (p.Met245Arg) c.632T>G (p.Met211Arg) c.812T>G (p.Met271Arg) c.914T>G (p.Met305Arg) c.854T>G (p.Met285Arg) n.4467A>C c.737T>G (p.Met246Arg) c.755T>G (p.Met252Arg) c.545T>G (p.Met182Arg) c.563T>G (p.Met188Arg) | |
2 | g.127426118T= | CA1286883409 | PROC | c.569T= (p.Met190=) c.121-2239T= c.671T= (p.Met224=) c.512T= (p.Met171=) n.155T= c.752T= (p.Met251=) c.734T= (p.Met245=) c.632T= (p.Met211=) c.812T= (p.Met271=) c.914T= (p.Met305=) c.854T= (p.Met285=) n.4467A= c.737T= (p.Met246=) c.755T= (p.Met252=) c.545T= (p.Met182=) c.563T= (p.Met188=) | |
2 | g.127426119G>A | CA348401126 | PROC | c.570G>A (p.Met190Ile) c.121-2238G>A c.672G>A (p.Met224Ile) c.513G>A (p.Met171Ile) n.156G>A c.753G>A (p.Met251Ile) c.735G>A (p.Met245Ile) c.633G>A (p.Met211Ile) c.813G>A (p.Met271Ile) c.915G>A (p.Met305Ile) c.855G>A (p.Met285Ile) n.4466C>T c.738G>A (p.Met246Ile) c.756G>A (p.Met252Ile) c.546G>A (p.Met182Ile) c.564G>A (p.Met188Ile) | gnomAD v4 |
2 | g.127426119G>C | CA348401127 | PROC | c.570G>C (p.Met190Ile) c.121-2238G>C c.672G>C (p.Met224Ile) c.513G>C (p.Met171Ile) n.156G>C c.753G>C (p.Met251Ile) c.735G>C (p.Met245Ile) c.633G>C (p.Met211Ile) c.813G>C (p.Met271Ile) c.915G>C (p.Met305Ile) c.855G>C (p.Met285Ile) n.4466C>G c.738G>C (p.Met246Ile) c.756G>C (p.Met252Ile) c.546G>C (p.Met182Ile) c.564G>C (p.Met188Ile) | |
2 | g.127426119G>T | CA348401130 | PROC | c.570G>T (p.Met190Ile) c.121-2238G>T c.672G>T (p.Met224Ile) c.513G>T (p.Met171Ile) n.156G>T c.753G>T (p.Met251Ile) c.735G>T (p.Met245Ile) c.633G>T (p.Met211Ile) c.813G>T (p.Met271Ile) c.915G>T (p.Met305Ile) c.855G>T (p.Met285Ile) n.4466C>A c.738G>T (p.Met246Ile) c.756G>T (p.Met252Ile) c.546G>T (p.Met182Ile) c.564G>T (p.Met188Ile) | |
2 | g.127426120G>A | CA348401133 | PROC | c.571G>A (p.Glu191Lys) c.121-2237G>A c.673G>A (p.Glu225Lys) c.514G>A (p.Glu172Lys) n.157G>A c.754G>A (p.Glu252Lys) c.736G>A (p.Glu246Lys) c.634G>A (p.Glu212Lys) c.814G>A (p.Glu272Lys) c.916G>A (p.Glu306Lys) c.856G>A (p.Glu286Lys) n.4465C>T c.739G>A (p.Glu247Lys) c.757G>A (p.Glu253Lys) c.547G>A (p.Glu183Lys) c.565G>A (p.Glu189Lys) | gnomAD v4 |
2 | g.127426120G>C | CA1859389 | PROC | c.571G>C (p.Glu191Gln) c.121-2237G>C c.673G>C (p.Glu225Gln) c.514G>C (p.Glu172Gln) n.157G>C c.754G>C (p.Glu252Gln) c.736G>C (p.Glu246Gln) c.634G>C (p.Glu212Gln) c.814G>C (p.Glu272Gln) c.916G>C (p.Glu306Gln) c.856G>C (p.Glu286Gln) n.4465C>G c.739G>C (p.Glu247Gln) c.757G>C (p.Glu253Gln) c.547G>C (p.Glu183Gln) c.565G>C (p.Glu189Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |