Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.117835484T>A | CA371892160 | EXT1 | n.591A>T c.1124A>T (p.Asn375Ile) c.492A>T c.*15A>T (n.*15A>T) | |
8 | g.117835484T>C | CA371892163 | EXT1 | n.591A>G c.1124A>G (p.Asn375Ser) c.492A>G c.*15A>G (n.*15A>G) | |
8 | g.117835484T>G | CA371892165 | EXT1 | n.591A>C c.1124A>C (p.Asn375Thr) c.492A>C c.*15A>C (n.*15A>C) | |
8 | g.117835485T>A | CA371892171 | EXT1 | n.590A>T c.1123A>T (p.Asn375Tyr) c.491A>T c.*14A>T (n.*14A>T) | |
8 | g.117835485T>C | CA371892180 | EXT1 | n.590A>G c.1123A>G (p.Asn375Asp) c.491A>G c.*14A>G (n.*14A>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.117835485T>G | CA371892184 | EXT1 | n.590A>C c.1123A>C (p.Asn375His) c.491A>C c.*14A>C (n.*14A>C) | |
8 | g.117835485T= | CA1813956694 | EXT1 | n.590A= c.1123A= (p.Asn375=) c.491A= c.*14A= (n.*14A=) | |
8 | g.117835486C>A | CA371892187 | EXT1 | n.589G>T c.1122G>T (p.Trp374Cys) c.490G>T c.*13G>T (n.*13G>T) | |
8 | g.117835486C>G | CA371892200 | EXT1 | n.589G>C c.1122G>C (p.Trp374Cys) c.490G>C c.*13G>C (n.*13G>C) | gnomAD v4 |
8 | g.117835486C>T | CA371892197 | EXT1 | n.589G>A c.1122G>A (p.Trp374Ter) c.490G>A c.*13G>A (n.*13G>A) | ClinVar dbSNP |
8 | g.117835487C>A | CA371892207 | EXT1 | n.588G>T c.1121G>T (p.Trp374Leu) c.489G>T c.*12G>T (n.*12G>T) | |
8 | g.117835487C>G | CA371892211 | EXT1 | n.588G>C c.1121G>C (p.Trp374Ser) c.489G>C c.*12G>C (n.*12G>C) | |
8 | g.117835487C>T | CA371892213 | EXT1 | n.588G>A c.1121G>A (p.Trp374Ter) c.489G>A c.*12G>A (n.*12G>A) | |
8 | g.117835488A>C | CA371892218 | EXT1 | n.587T>G c.1120T>G (p.Trp374Gly) c.488T>G c.*11T>G (n.*11T>G) | |
8 | g.117835488A>G | CA371892219 | EXT1 | n.587T>C c.1120T>C (p.Trp374Arg) c.488T>C c.*11T>C (n.*11T>C) | |
8 | g.117835488A>T | CA371892220 | EXT1 | n.587T>A c.1120T>A (p.Trp374Arg) c.488T>A c.*11T>A (n.*11T>A) | |
8 | g.117835489A>C | CA371892223 | EXT1 | n.586T>G c.1119T>G (p.Asn373Lys) c.487T>G c.*10T>G (n.*10T>G) | |
8 | g.117835489A>G | CA462468823 | EXT1 | n.586T>C c.1119T>C (p.Asn373=) c.487T>C c.*10T>C (n.*10T>C) | |
8 | g.117835489A>T | CA371892226 | EXT1 | n.586T>A c.1119T>A (p.Asn373Lys) c.487T>A c.*10T>A (n.*10T>A) | |
8 | g.117835490T>A | CA371892231 | EXT1 | n.585A>T c.1118A>T (p.Asn373Ile) c.486A>T c.*9A>T (n.*9A>T) | |
8 | g.117835490T>C | CA371892237 | EXT1 | n.585A>G c.1118A>G (p.Asn373Ser) c.486A>G c.*9A>G (n.*9A>G) | |
8 | g.117835490T>G | CA371892236 | EXT1 | n.585A>C c.1118A>C (p.Asn373Thr) c.486A>C c.*9A>C (n.*9A>C) | |
8 | g.117835491dup | CA2740095137 | EXT1 | n.585dup c.1118dup (p.Asn373LysfsTer11) c.486dup c.*9dup (n.*9dup) | ClinVar |
8 | g.117835491T>A | CA371892238 | EXT1 | n.584A>T c.1117A>T (p.Asn373Tyr) c.485A>T c.*8A>T (n.*8A>T) | |
8 | g.117835491T>C | CA4854235 | EXT1 | n.584A>G c.1117A>G (p.Asn373Asp) c.485A>G c.*8A>G (n.*8A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835491T>G | CA371892247 | EXT1 | n.584A>C c.1117A>C (p.Asn373His) c.485A>C c.*8A>C (n.*8A>C) | |
8 | g.117835491T= | CA1813956695 | EXT1 | n.584A= c.1117A= (p.Asn373=) c.485A= c.*8A= (n.*8A=) | |
8 | g.117835492A>C | CA371892254 | EXT1 | n.583T>G c.1116T>G (p.Ile372Met) c.484T>G c.*7T>G (n.*7T>G) | |
8 | g.117835492A>G | CA462468824 | EXT1 | n.583T>C c.1116T>C (p.Ile372=) c.484T>C c.*7T>C (n.*7T>C) | |
8 | g.117835492A>T | CA462468825 | EXT1 | n.583T>A c.1116T>A (p.Ile372=) c.484T>A c.*7T>A (n.*7T>A) | |
8 | g.117835493A>C | CA371892258 | EXT1 | n.582T>G c.1115T>G (p.Ile372Ser) c.483T>G c.*6T>G (n.*6T>G) | |
8 | g.117835493A>G | CA371892268 | EXT1 | n.582T>C c.1115T>C (p.Ile372Thr) c.483T>C c.*6T>C (n.*6T>C) | |
8 | g.117835493A>T | CA371892264 | EXT1 | n.582T>A c.1115T>A (p.Ile372Asn) c.483T>A c.*6T>A (n.*6T>A) | |
8 | g.117835494T>A | CA371892282 | EXT1 | n.581A>T c.1114A>T (p.Ile372Phe) c.482A>T c.*5A>T (n.*5A>T) | |
8 | g.117835494T>C | CA371892287 | EXT1 | n.581A>G c.1114A>G (p.Ile372Val) c.482A>G c.*5A>G (n.*5A>G) | |
8 | g.117835494T>G | CA371892295 | EXT1 | n.581A>C c.1114A>C (p.Ile372Leu) c.482A>C c.*5A>C (n.*5A>C) | |
8 | g.117835495C>A | CA462468826 | EXT1 | n.580G>T c.1113G>T (p.Val371=) c.481G>T c.*4G>T (n.*4G>T) | |
8 | g.117835495C= | CA1813956696 | EXT1 | n.580G= c.1113G= (p.Val371=) c.481G= c.*4G= (n.*4G=) | |
8 | g.117835495C>G | CA462468827 | EXT1 | n.580G>C c.1113G>C (p.Val371=) c.481G>C c.*4G>C (n.*4G>C) | dbSNP |
8 | g.117835495C>T | CA462468828 | EXT1 | n.580G>A c.1113G>A (p.Val371=) c.481G>A c.*4G>A (n.*4G>A) | gnomAD v4 |
8 | g.117835496del | CA2695210030 | EXT1 | n.579del c.1112del (p.Val371GlyfsTer10) c.480del c.*3del (n.*3del) | |
8 | g.117835496A>C | CA371892303 | EXT1 | n.579T>G c.1112T>G (p.Val371Gly) c.480T>G c.*3T>G (n.*3T>G) | |
8 | g.117835496A>G | CA371892306 | EXT1 | n.579T>C c.1112T>C (p.Val371Ala) c.480T>C c.*3T>C (n.*3T>C) | gnomAD v4 |
8 | g.117835496A>T | CA371892308 | EXT1 | n.579T>A c.1112T>A (p.Val371Glu) c.480T>A c.*3T>A (n.*3T>A) | |
8 | g.117835497C>A | CA371892312 | EXT1 | n.578G>T c.1111G>T (p.Val371Leu) c.479G>T c.*2G>T (n.*2G>T) | dbSNP gnomAD v4 |
8 | g.117835497C= | CA1813956697 | EXT1 | n.578G= c.1111G= (p.Val371=) c.479G= c.*2G= (n.*2G=) | |
8 | g.117835497C>G | CA371892319 | EXT1 | n.578G>C c.1111G>C (p.Val371Leu) c.479G>C c.*2G>C (n.*2G>C) | |
8 | g.117835497C>T | CA371892324 | EXT1 | n.578G>A c.1111G>A (p.Val371Met) c.479G>A c.*2G>A (n.*2G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.117835498T>A | CA371892332 | EXT1 | n.577A>T c.1110A>T (p.Glu370Asp) c.478A>T c.*1A>T (n.*1A>T) | |
8 | g.117835498T>C | CA462468829 | EXT1 | n.577A>G c.1110A>G (p.Glu370=) c.478A>G c.*1A>G (n.*1A>G) | |
8 | g.117835498T>G | CA371892335 | EXT1 | n.577A>C c.1110A>C (p.Glu370Asp) c.478A>C c.*1A>C (n.*1A>C) | |
8 | g.117835499T>A | CA371892340 | EXT1 | n.576A>T c.1109A>T (p.Glu370Val) c.477A>T c.126A>T (p.Ter42Cys) | |
8 | g.117835499T>C | CA371892345 | EXT1 | n.576A>G c.1109A>G (p.Glu370Gly) c.477A>G c.126A>G (p.Ter42Trp) | |
8 | g.117835499T>G | CA371892344 | EXT1 | n.576A>C c.1109A>C (p.Glu370Ala) c.477A>C c.126A>C (p.Ter42Cys) | |
8 | g.117835500C>A | CA371892346 | EXT1 | n.575G>T c.1108G>T (p.Glu370Ter) c.476G>T c.125G>T (p.Ter42Leu) | ClinVar dbSNP |
8 | g.117835500C= | CA1813956698 | EXT1 | n.575G= c.1108G= (p.Glu370=) c.476G= c.125G= (p.Ter42=) | |
8 | g.117835500C>G | CA371892364 | EXT1 | n.575G>C c.1108G>C (p.Glu370Gln) c.476G>C c.125G>C (p.Ter42Ser) | gnomAD v4 |
8 | g.117835500C>T | CA371892349 | EXT1 | n.575G>A c.1108G>A (p.Glu370Lys) c.476G>A c.125G>A (p.Ter42=) | |
8 | g.117835501A>C | CA462468830 | EXT1 | n.574T>G c.1107T>G (p.Ser369=) c.475T>G c.124T>G (p.Ter42Gly) | |
8 | g.117835501A>G | CA462468831 | EXT1 | n.574T>C c.1107T>C (p.Ser369=) c.475T>C c.124T>C (p.Ter42Arg) | gnomAD v4 |
8 | g.117835501A>T | CA462468832 | EXT1 | n.574T>A c.1107T>A (p.Ser369=) c.475T>A c.124T>A (p.Ter42Arg) | |
8 | g.117835502G>A | CA371892381 | EXT1 | n.573C>T c.1106C>T (p.Ser369Phe) c.474C>T c.123C>T (p.Leu41=) | gnomAD v4 |
8 | g.117835502G>C | CA371892382 | EXT1 | n.573C>G c.1106C>G (p.Ser369Cys) c.474C>G c.123C>G (p.Leu41=) | |
8 | g.117835502G>T | CA371892383 | EXT1 | n.573C>A c.1106C>A (p.Ser369Tyr) c.474C>A c.123C>A (p.Leu41=) | |
8 | g.117835503A>C | CA371892388 | EXT1 | n.572T>G c.1105T>G (p.Ser369Ala) c.473T>G c.122T>G (p.Leu41Arg) | |
8 | g.117835503A>G | CA371892391 | EXT1 | n.572T>C c.1105T>C (p.Ser369Pro) c.473T>C c.122T>C (p.Leu41Pro) | |
8 | g.117835503A>T | CA371892395 | EXT1 | n.572T>A c.1105T>A (p.Ser369Thr) c.473T>A c.122T>A (p.Leu41His) | |
8 | g.117835504G>A | CA462468834 | EXT1 | n.571C>T c.1104C>T (p.Phe368=) c.472C>T c.121C>T (p.Leu41Phe) | |
8 | g.117835504G>C | CA371892400 | EXT1 | n.571C>G c.1104C>G (p.Phe368Leu) c.472C>G c.121C>G (p.Leu41Val) | |
8 | g.117835504G>T | CA371892405 | EXT1 | n.571C>A c.1104C>A (p.Phe368Leu) c.472C>A c.121C>A (p.Leu41Ile) | |
8 | g.117835505A>C | CA371892410 | EXT1 | n.570T>G c.1103T>G (p.Phe368Cys) c.471T>G c.120T>G (p.Ile40Met) | |
8 | g.117835505A>G | CA371892414 | EXT1 | n.570T>C c.1103T>C (p.Phe368Ser) c.471T>C c.120T>C (p.Ile40=) | |
8 | g.117835505A>T | CA371892418 | EXT1 | n.570T>A c.1103T>A (p.Phe368Tyr) c.471T>A c.120T>A (p.Ile40=) | |
8 | g.117835506A>C | CA371892429 | EXT1 | n.569T>G c.1102T>G (p.Phe368Val) c.470T>G c.119T>G (p.Ile40Ser) | |
8 | g.117835506A>G | CA371892427 | EXT1 | n.569T>C c.1102T>C (p.Phe368Leu) c.470T>C c.119T>C (p.Ile40Thr) | |
8 | g.117835506A>T | CA371892424 | EXT1 | n.569T>A c.1102T>A (p.Phe368Ile) c.470T>A c.119T>A (p.Ile40Asn) | COSMIC |
8 | g.117835507T>A | CA462468838 | EXT1 | n.568A>T c.1101A>T (p.Pro367=) c.469A>T c.118A>T (p.Ile40Phe) | |
8 | g.117835507T>C | CA184296600 | EXT1 | n.568A>G c.1101A>G (p.Pro367=) c.469A>G c.118A>G (p.Ile40Val) | ClinVar dbSNP gnomAD v4 |
8 | g.117835507T>G | CA462468837 | EXT1 | n.568A>C c.1101A>C (p.Pro367=) c.469A>C c.118A>C (p.Ile40Leu) | dbSNP |
8 | g.117835507T= | CA1813956699 | EXT1 | n.568A= c.1101A= (p.Pro367=) c.469A= c.118A= (p.Ile40=) | |
8 | g.117835507dup | CA2695210031 | EXT1 | n.568dup c.1101dup (p.Phe368IlefsTer3) c.469dup c.118dup (p.Ile40AsnfsTer5) | |
8 | g.117835508G>A | CA371892437 | EXT1 | n.567C>T c.1100C>T (p.Pro367Leu) c.468C>T c.117C>T (p.Ala39=) | dbSNP |
8 | g.117835508G>C | CA371892440 | EXT1 | n.567C>G c.1100C>G (p.Pro367Arg) c.468C>G c.117C>G (p.Ala39=) | |
8 | g.117835508G>T | CA371892446 | EXT1 | n.567C>A c.1100C>A (p.Pro367Gln) c.468C>A c.117C>A (p.Ala39=) | |
8 | g.117835508_117835516delinsTGCTGAGCAATTTCTGAG | CA2695210032 | EXT1 | n.559_567delinsCTCAGAAATTGCTCAGCA c.1092_1100delinsCTCAGAAATTGCTCAGCA (p.Trp364_Pro367delinsCysSerGluIleAlaGlnGln) c.460_468delinsCTCAGAAATTGCTCAGCA c.109_117delinsCTCAGAAATTGCTCAGCA (p.Gly37_Val38delinsLeuArgAsnCysSer) | |
8 | g.117835509G>A | CA371892450 | EXT1 | n.566C>T c.1099C>T (p.Pro367Ser) c.467C>T c.116C>T (p.Ala39Val) | |
8 | g.117835509G>C | CA371892452 | EXT1 | n.566C>G c.1099C>G (p.Pro367Ala) c.467C>G c.116C>G (p.Ala39Gly) | gnomAD v4 |
8 | g.117835509G= | CA1813956700 | EXT1 | n.566C= c.1099C= (p.Pro367=) c.467C= c.116C= (p.Ala39=) | |
8 | g.117835509G>T | CA371892454 | EXT1 | n.566C>A c.1099C>A (p.Pro367Thr) c.467C>A c.116C>A (p.Ala39Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835510C>A | CA371892460 | EXT1 | n.565G>T c.1098G>T (p.Leu366Phe) c.466G>T c.115G>T (p.Ala39Ser) | |
8 | g.117835510C= | CA1813956701 | EXT1 | n.565G= c.1098G= (p.Leu366=) c.466G= c.115G= (p.Ala39=) | |
8 | g.117835510C>G | CA371892463 | EXT1 | n.565G>C c.1098G>C (p.Leu366Phe) c.466G>C c.115G>C (p.Ala39Pro) | |
8 | g.117835510C>T | CA4854236 | EXT1 | n.565G>A c.1098G>A (p.Leu366=) c.466G>A c.115G>A (p.Ala39Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.117835511A>C | CA371892466 | EXT1 | n.564T>G c.1097T>G (p.Leu366Trp) c.465T>G c.114T>G (p.Val38=) | |
8 | g.117835511A>G | CA371892469 | EXT1 | n.564T>C c.1097T>C (p.Leu366Ser) c.465T>C c.114T>C (p.Val38=) | |
8 | g.117835511A>T | CA371892478 | EXT1 | n.564T>A c.1097T>A (p.Leu366Ter) c.465T>A c.114T>A (p.Val38=) | |
8 | g.117835512del | CA2695210033 | EXT1 | n.564del c.1097del (p.Leu366CysfsTer6) c.465del c.114del (p.Ala39ProfsTer?) | |
8 | g.117835512A>C | CA371892486 | EXT1 | n.563T>G c.1096T>G (p.Leu366Val) c.464T>G c.113T>G (p.Val38Gly) | |
8 | g.117835512A>G | CA462468842 | EXT1 | n.563T>C c.1096T>C (p.Leu366=) c.464T>C c.113T>C (p.Val38Ala) | |
8 | g.117835512A>T | CA371892489 | EXT1 | n.563T>A c.1096T>A (p.Leu366Met) c.464T>A c.113T>A (p.Val38Asp) | |
8 | g.117835513C>A | CA371892497 | EXT1 | n.562G>T c.1095G>T (p.Glu365Asp) c.463G>T c.112G>T (p.Val38Phe) | |
8 | g.117835513C= | CA1813956702 | EXT1 | n.562G= c.1095G= (p.Glu365=) c.463G= c.112G= (p.Val38=) | |
8 | g.117835513C>G | CA371892501 | EXT1 | n.562G>C c.1095G>C (p.Glu365Asp) c.463G>C c.112G>C (p.Val38Leu) | |
8 | g.117835513C>T | CA462468843 | EXT1 | n.562G>A c.1095G>A (p.Glu365=) c.463G>A c.112G>A (p.Val38Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.117835514T>A | CA371892507 | EXT1 | n.561A>T c.1094A>T (p.Glu365Val) c.462A>T c.111A>T (p.Gly37=) | |
8 | g.117835514T>C | CA371892509 | EXT1 | n.561A>G c.1094A>G (p.Glu365Gly) c.462A>G c.111A>G (p.Gly37=) | |
8 | g.117835514T>G | CA371892512 | EXT1 | n.561A>C c.1094A>C (p.Glu365Ala) c.462A>C c.111A>C (p.Gly37=) | |
8 | g.117835515C>A | CA371892541 | EXT1 | n.560G>T c.1093G>T (p.Glu365Ter) c.461G>T c.110G>T (p.Gly37Val) | |
8 | g.117835515C= | CA1813956703 | EXT1 | n.560G= c.1093G= (p.Glu365=) c.461G= c.110G= (p.Gly37=) | |
8 | g.117835515C>G | CA371892536 | EXT1 | n.560G>C c.1093G>C (p.Glu365Gln) c.461G>C c.110G>C (p.Gly37Ala) | |
8 | g.117835515C>T | CA184296611 | EXT1 | n.560G>A c.1093G>A (p.Glu365Lys) c.461G>A c.110G>A (p.Gly37Glu) | ClinVar dbSNP gnomAD v4 |
8 | g.117835516_117835517dup | CA2695210034 | EXT1 | n.559_560dup c.1092_1093dup (p.Glu365GlyfsTer8) c.460_461dup c.109_110dup (p.Val38GlufsTer?) | |
8 | g.117835517del | CA2695210035 | EXT1 | n.560del c.1093del (p.Glu365SerfsTer7) c.461del c.110del (p.Gly37GlufsTer?) | |
8 | g.117835516C>A | CA371892549 | EXT1 | n.559G>T c.1092G>T (p.Trp364Cys) c.460G>T c.109G>T (p.Gly37Ter) | |
8 | g.117835516C= | CA1813956704 | EXT1 | n.559G= c.1092G= (p.Trp364=) c.460G= c.109G= (p.Gly37=) | |
8 | g.117835516C>G | CA371892553 | EXT1 | n.559G>C c.1092G>C (p.Trp364Cys) c.460G>C c.109G>C (p.Gly37Arg) | |
8 | g.117835516C>T | CA371892557 | EXT1 | n.559G>A c.1092G>A (p.Trp364Ter) c.460G>A c.109G>A (p.Gly37Arg) | ClinVar dbSNP |
8 | g.117835517C>A | CA371892563 | EXT1 | n.558G>T c.1091G>T (p.Trp364Leu) c.459G>T c.108G>T (p.Met36Ile) | ClinVar gnomAD v4 |
8 | g.117835517C>G | CA371892566 | EXT1 | n.558G>C c.1091G>C (p.Trp364Ser) c.459G>C c.108G>C (p.Met36Ile) | |
8 | g.117835517C>T | CA371892571 | EXT1 | n.558G>A c.1091G>A (p.Trp364Ter) c.459G>A c.108G>A (p.Met36Ile) | ClinVar |
8 | g.117835518A= | CA1813956705 | EXT1 | n.557T= c.1090T= (p.Trp364=) c.458T= c.107T= (p.Met36=) | |
8 | g.117835518A>C | CA371892572 | EXT1 | n.557T>G c.1090T>G (p.Trp364Gly) c.458T>G c.107T>G (p.Met36Arg) | |
8 | g.117835518A>G | CA371892575 | EXT1 | n.557T>C c.1090T>C (p.Trp364Arg) c.458T>C c.107T>C (p.Met36Thr) | dbSNP |
8 | g.117835518A>T | CA371892573 | EXT1 | n.557T>A c.1090T>A (p.Trp364Arg) c.458T>A c.107T>A (p.Met36Lys) | |
8 | g.117835519T>A | CA462468847 | EXT1 | n.556A>T c.1089A>T (p.Gly363=) c.457A>T c.106A>T (p.Met36Leu) | |
8 | g.117835519T>C | CA462468848 | EXT1 | n.556A>G c.1089A>G (p.Gly363=) c.457A>G c.106A>G (p.Met36Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.117835519T>G | CA462468849 | EXT1 | n.556A>C c.1089A>C (p.Gly363=) c.457A>C c.106A>C (p.Met36Leu) | |
8 | g.117835519T= | CA1813956706 | EXT1 | n.556A= c.1089A= (p.Gly363=) c.457A= c.106A= (p.Met36=) | |
8 | g.117835520C>A | CA371892587 | EXT1 | n.555G>T c.1088G>T (p.Gly363Val) c.456G>T c.105G>T (p.Trp35Cys) | |
8 | g.117835520C>G | CA371892590 | EXT1 | n.555G>C c.1088G>C (p.Gly363Ala) c.456G>C c.105G>C (p.Trp35Cys) | |
8 | g.117835520C>T | CA371892593 | EXT1 | n.555G>A c.1088G>A (p.Gly363Glu) c.456G>A c.105G>A (p.Trp35Ter) | gnomAD v3 gnomAD v4 |
8 | g.117835521_117835531dup | CA2579235194 | EXT1 | n.545_555dup c.1078_1088dup (p.Trp364SerfsTer12) c.446_456dup c.95_105dup (p.Met36LeufsTer?) | |
8 | g.117835521C>A | CA371892594 | EXT1 | n.554G>T c.1087G>T (p.Gly363Ter) c.455G>T c.104G>T (p.Trp35Leu) | COSMIC |
8 | g.117835521C= | CA1813956707 | EXT1 | n.554G= c.1087G= (p.Gly363=) c.455G= c.104G= (p.Trp35=) | |
8 | g.117835521C>G | CA4854237 | EXT1 | n.554G>C c.1087G>C (p.Gly363Arg) c.455G>C c.104G>C (p.Trp35Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.117835521C>T | CA371892596 | EXT1 | n.554G>A c.1087G>A (p.Gly363Arg) c.455G>A c.104G>A (p.Trp35Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835522A>C | CA371892598 | EXT1 | n.553T>G c.1086T>G (p.Asn362Lys) c.454T>G c.103T>G (p.Trp35Gly) | |
8 | g.117835522A>G | CA462468851 | EXT1 | n.553T>C c.1086T>C (p.Asn362=) c.454T>C c.103T>C (p.Trp35Arg) | gnomAD v4 |
8 | g.117835522A>T | CA371892601 | EXT1 | n.553T>A c.1086T>A (p.Asn362Lys) c.454T>A c.103T>A (p.Trp35Arg) | |
8 | g.117835523T>A | CA371892603 | EXT1 | n.552A>T c.1085A>T (p.Asn362Ile) c.453A>T c.102A>T (p.Gln34His) | |
8 | g.117835523T>C | CA4854238 | EXT1 | n.552A>G c.1085A>G (p.Asn362Ser) c.453A>G c.102A>G (p.Gln34=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835523T>G | CA371892608 | EXT1 | n.552A>C c.1085A>C (p.Asn362Thr) c.453A>C c.102A>C (p.Gln34His) | |
8 | g.117835523T= | CA1813956708 | EXT1 | n.552A= c.1085A= (p.Asn362=) c.453A= c.102A= (p.Gln34=) | |
8 | g.117835524T>A | CA371892613 | EXT1 | n.551A>T c.1084A>T (p.Asn362Tyr) c.452A>T c.101A>T (p.Gln34Leu) | |
8 | g.117835524T>C | CA371892624 | EXT1 | n.551A>G c.1084A>G (p.Asn362Asp) c.452A>G c.101A>G (p.Gln34Arg) | ClinVar |
8 | g.117835524T>G | CA371892621 | EXT1 | n.551A>C c.1084A>C (p.Asn362His) c.452A>C c.101A>C (p.Gln34Pro) | |
8 | g.117835525G>A | CA462468852 | EXT1 | n.550C>T c.1083C>T (p.Ser361=) c.451C>T c.100C>T (p.Gln34Ter) | |
8 | g.117835525G>C | CA371892627 | EXT1 | n.550C>G c.1083C>G (p.Ser361Arg) c.451C>G c.100C>G (p.Gln34Glu) | |
8 | g.117835525G>T | CA371892630 | EXT1 | n.550C>A c.1083C>A (p.Ser361Arg) c.451C>A c.100C>A (p.Gln34Lys) | |
8 | g.117835526C>A | CA371892631 | EXT1 | n.549G>T c.1082G>T (p.Ser361Ile) c.450G>T c.99G>T (p.Gln33His) | |
8 | g.117835526C= | CA1813956709 | EXT1 | n.549G= c.1082G= (p.Ser361=) c.450G= c.99G= (p.Gln33=) | |
8 | g.117835526C>G | CA371892632 | EXT1 | n.549G>C c.1082G>C (p.Ser361Thr) c.450G>C c.99G>C (p.Gln33His) | |
8 | g.117835526C>T | CA371892634 | EXT1 | n.549G>A c.1082G>A (p.Ser361Asn) c.450G>A c.99G>A (p.Gln33=) | dbSNP |
8 | g.117835527T>A | CA371892637 | EXT1 | n.548A>T c.1081A>T (p.Ser361Cys) c.449A>T c.98A>T (p.Gln33Leu) | |
8 | g.117835527T>C | CA371892638 | EXT1 | n.548A>G c.1081A>G (p.Ser361Gly) c.449A>G c.98A>G (p.Gln33Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.117835527T>G | CA371892639 | EXT1 | n.548A>C c.1081A>C (p.Ser361Arg) c.449A>C c.98A>C (p.Gln33Pro) | COSMIC |
8 | g.117835527T= | CA1813956710 | EXT1 | n.548A= c.1081A= (p.Ser361=) c.449A= c.98A= (p.Gln33=) | |
8 | g.117835528G>A | CA462468855 | EXT1 | n.547C>T c.1080C>T (p.Leu360=) c.448C>T c.97C>T (p.Gln33Ter) | |
8 | g.117835528G>C | CA462468856 | EXT1 | n.547C>G c.1080C>G (p.Leu360=) c.448C>G c.97C>G (p.Gln33Glu) | |
8 | g.117835528G>T | CA462468857 | EXT1 | n.547C>A c.1080C>A (p.Leu360=) c.448C>A c.97C>A (p.Gln33Lys) | |
8 | g.117835529A>C | CA371892641 | EXT1 | n.546T>G c.1079T>G (p.Leu360Arg) c.447T>G c.96T>G (p.Ala32=) | |
8 | g.117835529A>G | CA371892643 | EXT1 | n.546T>C c.1079T>C (p.Leu360Pro) c.447T>C c.96T>C (p.Ala32=) | |
8 | g.117835529A>T | CA371892651 | EXT1 | n.546T>A c.1079T>A (p.Leu360His) c.447T>A c.96T>A (p.Ala32=) | |
8 | g.117835530G>A | CA371892657 | EXT1 | n.545C>T c.1078C>T (p.Leu360Phe) c.446C>T c.95C>T (p.Ala32Val) | |
8 | g.117835530G>C | CA371892661 | EXT1 | n.545C>G c.1078C>G (p.Leu360Val) c.446C>G c.95C>G (p.Ala32Gly) | |
8 | g.117835530G>T | CA371892666 | EXT1 | n.545C>A c.1078C>A (p.Leu360Ile) c.446C>A c.95C>A (p.Ala32Asp) | gnomAD v4 |
8 | g.117835531C>A | CA184296618 | EXT1 | n.544G>T c.1077G>T (p.Met359Ile) c.445G>T c.94G>T (p.Ala32Ser) | dbSNP |
8 | g.117835531C= | CA1813956711 | EXT1 | n.544G= c.1077G= (p.Met359=) c.445G= c.94G= (p.Ala32=) | |
8 | g.117835531C>G | CA371892675 | EXT1 | n.544G>C c.1077G>C (p.Met359Ile) c.445G>C c.94G>C (p.Ala32Pro) | |
8 | g.117835531C>T | CA371892676 | EXT1 | n.544G>A c.1077G>A (p.Met359Ile) c.445G>A c.94G>A (p.Ala32Thr) | dbSNP COSMIC |
8 | g.117835532_117835542del | CA2695210036 | EXT1 | n.534_544del c.1067_1077del (p.Val356AlafsTer11) c.435_445del c.84_94del (p.Pro29SerfsTer12) | |
8 | g.117835532A= | CA1813956712 | EXT1 | n.543T= c.1076T= (p.Met359=) c.444T= c.93T= (p.Asp31=) | |
8 | g.117835532A>C | CA371892681 | EXT1 | n.543T>G c.1076T>G (p.Met359Arg) c.444T>G c.93T>G (p.Asp31Glu) | |
8 | g.117835532A>G | CA371892684 | EXT1 | n.543T>C c.1076T>C (p.Met359Thr) c.444T>C c.93T>C (p.Asp31=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835532A>T | CA4854239 | EXT1 | n.543T>A c.1076T>A (p.Met359Lys) c.444T>A c.93T>A (p.Asp31Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835532dup | CA2573142838 | EXT1 | n.543dup c.1076dup (p.Met359IlefsTer12) c.444dup c.93dup (p.Ala32CysfsTer13) | ClinVar dbSNP |
8 | g.117835533T>A | CA371892691 | EXT1 | n.542A>T c.1075A>T (p.Met359Leu) c.443A>T c.92A>T (p.Asp31Val) | |
8 | g.117835533T>C | CA371892692 | EXT1 | n.542A>G c.1075A>G (p.Met359Val) c.443A>G c.92A>G (p.Asp31Gly) | gnomAD v4 |
8 | g.117835533T>G | CA371892696 | EXT1 | n.542A>C c.1075A>C (p.Met359Leu) c.443A>C c.92A>C (p.Asp31Ala) | |
8 | g.117835534C>A | CA462468861 | EXT1 | n.541G>T c.1074G>T (p.Val358=) c.442G>T c.91G>T (p.Asp31Tyr) | |
8 | g.117835534C>G | CA462468862 | EXT1 | n.541G>C c.1074G>C (p.Val358=) c.442G>C c.91G>C (p.Asp31His) | |
8 | g.117835534C>T | CA462468863 | EXT1 | n.541G>A c.1074G>A (p.Val358=) c.442G>A c.91G>A (p.Asp31Asn) | COSMIC |
8 | g.117835535A>C | CA371892701 | EXT1 | n.540T>G c.1073T>G (p.Val358Gly) c.441T>G c.90T>G (p.Cys30Trp) | |
8 | g.117835535A>G | CA371892703 | EXT1 | n.540T>C c.1073T>C (p.Val358Ala) c.441T>C c.90T>C (p.Cys30=) | |
8 | g.117835535A>T | CA371892704 | EXT1 | n.540T>A c.1073T>A (p.Val358Glu) c.441T>A c.90T>A (p.Cys30Ter) | |
8 | g.117835535dup | CA2573142839 | EXT1 | n.540dup c.1073dup (p.Met359AspfsTer12) c.441dup c.90dup (p.Asp31Ter) | ClinVar dbSNP |
8 | g.117835536C>A | CA371892705 | EXT1 | n.539G>T c.1072G>T (p.Val358Leu) c.440G>T c.89G>T (p.Cys30Phe) | |
8 | g.117835536C= | CA1813956713 | EXT1 | n.539G= c.1072G= (p.Val358=) c.440G= c.89G= (p.Cys30=) | |
8 | g.117835536C>G | CA4854240 | EXT1 | n.539G>C c.1072G>C (p.Val358Leu) c.440G>C c.89G>C (p.Cys30Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.117835536C>T | CA371892708 | EXT1 | n.539G>A c.1072G>A (p.Val358Met) c.440G>A c.89G>A (p.Cys30Tyr) | dbSNP |
8 | g.117835537A>C | CA462468865 | EXT1 | n.538T>G c.1071T>G (p.Pro357=) c.439T>G c.88T>G (p.Cys30Gly) | |
8 | g.117835537A>G | CA462468866 | EXT1 | n.538T>C c.1071T>C (p.Pro357=) c.439T>C c.88T>C (p.Cys30Arg) | |
8 | g.117835537A>T | CA462468864 | EXT1 | n.538T>A c.1071T>A (p.Pro357=) c.439T>A c.88T>A (p.Cys30Ser) | |
8 | g.117835538G>A | CA371892715 | EXT1 | n.537C>T c.1070C>T (p.Pro357Leu) c.438C>T c.87C>T (p.Pro29=) | |
8 | g.117835538G>C | CA371892714 | EXT1 | n.537C>G c.1070C>G (p.Pro357Arg) c.438C>G c.87C>G (p.Pro29=) | ClinVar dbSNP |
8 | g.117835538G= | CA1813956714 | EXT1 | n.537C= c.1070C= (p.Pro357=) c.438C= c.87C= (p.Pro29=) | |
8 | g.117835538G>T | CA371892711 | EXT1 | n.537C>A c.1070C>A (p.Pro357His) c.438C>A c.87C>A (p.Pro29=) | dbSNP |
8 | g.117835539G>A | CA371892725 | EXT1 | n.536C>T c.1069C>T (p.Pro357Ser) c.437C>T c.86C>T (p.Pro29Leu) | gnomAD v4 |
8 | g.117835539G>C | CA371892720 | EXT1 | n.536C>G c.1069C>G (p.Pro357Ala) c.437C>G c.86C>G (p.Pro29Arg) | |
8 | g.117835539G>T | CA371892723 | EXT1 | n.536C>A c.1069C>A (p.Pro357Thr) c.437C>A c.86C>A (p.Pro29His) | |
8 | g.117835540G>A | CA462468870 | EXT1 | n.535C>T c.1068C>T (p.Val356=) c.436C>T c.85C>T (p.Pro29Ser) | |
8 | g.117835540G>C | CA462468868 | EXT1 | n.535C>G c.1068C>G (p.Val356=) c.436C>G c.85C>G (p.Pro29Ala) | gnomAD v4 |
8 | g.117835540G>T | CA462468869 | EXT1 | n.535C>A c.1068C>A (p.Val356=) c.436C>A c.85C>A (p.Pro29Thr) | |
8 | g.117835541A>C | CA371892733 | EXT1 | n.534T>G c.1067T>G (p.Val356Gly) c.435T>G c.84T>G (p.Arg28=) | |
8 | g.117835541A>G | CA371892736 | EXT1 | n.534T>C c.1067T>C (p.Val356Ala) c.435T>C c.84T>C (p.Arg28=) | |
8 | g.117835541A>T | CA371892739 | EXT1 | n.534T>A c.1067T>A (p.Val356Asp) c.435T>A c.84T>A (p.Arg28=) | |
8 | g.117835542C>A | CA371892741 | EXT1 | n.533G>T c.1066G>T (p.Val356Phe) c.434G>T c.83G>T (p.Arg28Leu) | dbSNP |
8 | g.117835542C= | CA1813956715 | EXT1 | n.533G= c.1066G= (p.Val356=) c.434G= c.83G= (p.Arg28=) | |
8 | g.117835542C>G | CA371892740 | EXT1 | n.533G>C c.1066G>C (p.Val356Leu) c.434G>C c.83G>C (p.Arg28Pro) | |
8 | g.117835542C>T | CA4854241 | EXT1 | n.533G>A c.1066G>A (p.Val356Ile) c.434G>A c.83G>A (p.Arg28His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835543G>A | CA202210 | EXT1 | n.532C>T c.1065C>T (p.Cys355=) c.433C>T c.82C>T (p.Arg28Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835543G>C | CA371892746 | EXT1 | n.532C>G c.1065C>G (p.Cys355Trp) c.433C>G c.82C>G (p.Arg28Gly) | |
8 | g.117835543G= | CA1630835207 | EXT1 | n.532C= c.1065C= (p.Cys355=) c.433C= c.82C= (p.Arg28=) | |
8 | g.117835543G>T | CA371892751 | EXT1 | n.532C>A c.1065C>A (p.Cys355Ter) c.433C>A c.82C>A (p.Arg28Ser) | ClinVar dbSNP |
8 | g.117835543_117835544delinsAT | CA2739268962 | EXT1 | n.531_532delinsAT c.1064_1065delinsAT (p.Cys355Tyr) c.432_433delinsAT c.81_82delinsAT (p.Arg28Cys) | ClinVar |
8 | g.117835544C>A | CA371892759 | EXT1 | n.531G>T c.1064G>T (p.Cys355Phe) c.432G>T c.81G>T (p.Leu27=) | |
8 | g.117835544C>G | CA371892761 | EXT1 | n.531G>C c.1064G>C (p.Cys355Ser) c.432G>C c.81G>C (p.Leu27=) | |
8 | g.117835544C>T | CA371892768 | EXT1 | n.531G>A c.1064G>A (p.Cys355Tyr) c.432G>A c.81G>A (p.Leu27=) | ClinVar dbSNP |
8 | g.117835545A= | CA1813956716 | EXT1 | n.530T= c.1063T= (p.Cys355=) c.431T= c.80T= (p.Leu27=) | |
8 | g.117835545A>C | CA371892773 | EXT1 | n.530T>G c.1063T>G (p.Cys355Gly) c.431T>G c.80T>G (p.Leu27Arg) | |
8 | g.117835545A>G | CA371892785 | EXT1 | n.530T>C c.1063T>C (p.Cys355Arg) c.431T>C c.80T>C (p.Leu27Pro) | ClinVar dbSNP |
8 | g.117835545A>T | CA371892783 | EXT1 | n.530T>A c.1063T>A (p.Cys355Ser) c.431T>A c.80T>A (p.Leu27Gln) | |
8 | g.117835546G>A | CA462468872 | EXT1 | n.529C>T c.1062C>T (p.Ala354=) c.430C>T c.79C>T (p.Leu27=) | dbSNP gnomAD v4 |
8 | g.117835546G>C | CA462468873 | EXT1 | n.529C>G c.1062C>G (p.Ala354=) c.430C>G c.79C>G (p.Leu27Val) | |
8 | g.117835546G= | CA1813956717 | EXT1 | n.529C= c.1062C= (p.Ala354=) c.430C= c.79C= (p.Leu27=) | |
8 | g.117835546G>T | CA462468874 | EXT1 | n.529C>A c.1062C>A (p.Ala354=) c.430C>A c.79C>A (p.Leu27Met) | |
8 | g.117835547G>A | CA371892789 | EXT1 | n.528C>T c.1061C>T (p.Ala354Val) c.429C>T c.78C>T (p.Cys26=) | |
8 | g.117835547G>C | CA371892792 | EXT1 | n.528C>G c.1061C>G (p.Ala354Gly) c.429C>G c.78C>G (p.Cys26Trp) | |
8 | g.117835547G>T | CA371892795 | EXT1 | n.528C>A c.1061C>A (p.Ala354Asp) c.429C>A c.78C>A (p.Cys26Ter) | |
8 | g.117835547_117835557del | CA2781902055 | EXT1 | n.524-6_528del c.1057-6_1061del c.425-6_429del c.74-6_78del | |
8 | g.117835548C>A | CA371892804 | EXT1 | n.527G>T c.1060G>T (p.Ala354Ser) c.428G>T c.77G>T (p.Cys26Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835548C= | CA1813956718 | EXT1 | n.527G= c.1060G= (p.Ala354=) c.428G= c.77G= (p.Cys26=) | |
8 | g.117835548C>G | CA371892808 | EXT1 | n.527G>C c.1060G>C (p.Ala354Pro) c.428G>C c.77G>C (p.Cys26Ser) | |
8 | g.117835548C>T | CA371892811 | EXT1 | n.527G>A c.1060G>A (p.Ala354Thr) c.428G>A c.77G>A (p.Cys26Tyr) | dbSNP |
8 | g.117835549A>C | CA462468878 | EXT1 | n.526T>G c.1059T>G (p.Ala353=) c.427T>G c.76T>G (p.Cys26Gly) | |
8 | g.117835549A>G | CA462468879 | EXT1 | n.526T>C c.1059T>C (p.Ala353=) c.427T>C c.76T>C (p.Cys26Arg) | |
8 | g.117835549A>T | CA462468880 | EXT1 | n.526T>A c.1059T>A (p.Ala353=) c.427T>A c.76T>A (p.Cys26Ser) | |
8 | g.117835549_117835557delinsAGCCTGAGC | CA1813956719 | EXT1 | n.524-6_526delinsGCTCAGGCT c.1057-6_1059delinsGCTCAGGCT c.425-6_427delinsGCTCAGGCT c.74-6_76delinsGCTCAGGCT | |
8 | g.117835550G>A | CA371892812 | EXT1 | n.525C>T c.1058C>T (p.Ala353Val) c.426C>T c.75C>T (p.Gly25=) | dbSNP |
8 | g.117835550G>C | CA371892813 | EXT1 | n.525C>G c.1058C>G (p.Ala353Gly) c.426C>G c.75C>G (p.Gly25=) | |
8 | g.117835550G>T | CA371892816 | EXT1 | n.525C>A c.1058C>A (p.Ala353Asp) c.426C>A c.75C>A (p.Gly25=) | |
8 | g.117835550_117835557del | CA584341143 | EXT1 | n.524-6_525del c.1057-6_1058del c.425-6_426del c.74-6_75del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835551C>A | CA371892820 | EXT1 | n.524G>T c.1057G>T (p.Ala353Ser) c.425G>T c.74G>T (p.Gly25Val) | |
8 | g.117835551C>G | CA371892824 | EXT1 | n.524G>C c.1057G>C (p.Ala353Pro) c.425G>C c.74G>C (p.Gly25Ala) | dbSNP |
8 | g.117835551C>T | CA371892829 | EXT1 | n.524G>A c.1057G>A (p.Ala353Thr) c.425G>A c.74G>A (p.Gly25Asp) | dbSNP |
8 | g.117835552C>A | CA371892841 | EXT1 | n.524-1G>T c.1057-1G>T (n.1057-1G>T) c.425-1G>T c.74-1G>T (n.74-1G>T) | |
8 | g.117835552C= | CA1813956720 | EXT1 | n.524-1G= c.1057-1G= (n.1057-1G=) c.425-1G= c.74-1G= (n.74-1G=) | |
8 | g.117835552C>G | CA371892844 | EXT1 | n.524-1G>C c.1057-1G>C (n.1057-1G>C) c.425-1G>C c.74-1G>C (n.74-1G>C) | ClinVar dbSNP |
8 | g.117835552C>T | CA371892840 | EXT1 | n.524-1G>A c.1057-1G>A (n.1057-1G>A) c.425-1G>A c.74-1G>A (n.74-1G>A) | |
8 | g.117835553T>A | CA371892847 | EXT1 | n.524-2A>T c.1057-2A>T (n.1057-2A>T) c.425-2A>T c.74-2A>T (n.74-2A>T) | ClinVar dbSNP |
8 | g.117835553T>C | CA371892853 | EXT1 | n.524-2A>G c.1057-2A>G (n.1057-2A>G) c.425-2A>G c.74-2A>G (n.74-2A>G) | ClinVar dbSNP |
8 | g.117835553T>G | CA371892849 | EXT1 | n.524-2A>C c.1057-2A>C (n.1057-2A>C) c.425-2A>C c.74-2A>C (n.74-2A>C) | ClinVar |
8 | g.117835553T= | CA1813956721 | EXT1 | n.524-2A= c.1057-2A= (n.1057-2A=) c.425-2A= c.74-2A= (n.74-2A=) | |
8 | g.117835554G>A | CA584341144 | EXT1 | n.524-3C>T c.1057-3C>T (n.1057-3C>T) c.425-3C>T c.74-3C>T (n.74-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.117835554G>C | CA2580617226 | EXT1 | n.524-3C>G c.1057-3C>G (n.1057-3C>G) c.425-3C>G c.74-3C>G (n.74-3C>G) | ClinVar |
8 | g.117835554G= | CA1813956722 | EXT1 | n.524-3C= c.1057-3C= (n.1057-3C=) c.425-3C= c.74-3C= (n.74-3C=) | |
8 | g.117835554G>T | CA184296655 | EXT1 | n.524-3C>A c.1057-3C>A (n.1057-3C>A) c.425-3C>A c.74-3C>A (n.74-3C>A) | dbSNP gnomAD v4 |
8 | g.117835555A= | CA1813956723 | EXT1 | n.524-4T= c.1057-4T= (n.1057-4T=) c.425-4T= c.74-4T= (n.74-4T=) | |
8 | g.117835555A>G | CA1813956724 | EXT1 | n.524-4T>C c.1057-4T>C (n.1057-4T>C) c.425-4T>C c.74-4T>C (n.74-4T>C) | dbSNP gnomAD v4 |
8 | g.117835556G>A | CA2718164170 | EXT1 | n.524-5C>T c.1057-5C>T (n.1057-5C>T) c.425-5C>T c.74-5C>T (n.74-5C>T) | dbSNP |
8 | g.117835557C>A | CA2688346679 | EXT1 | n.524-6G>T c.1057-6G>T (n.1057-6G>T) c.425-6G>T c.74-6G>T (n.74-6G>T) | gnomAD v4 |
8 | g.117835557C= | CA1813956725 | EXT1 | n.524-6G= c.1057-6G= (n.1057-6G=) c.425-6G= c.74-6G= (n.74-6G=) | |
8 | g.117835557C>G | CA4854242 | EXT1 | n.524-6G>C c.1057-6G>C (n.1057-6G>C) c.425-6G>C c.74-6G>C (n.74-6G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.117835558A= | CA1813956726 | EXT1 | n.524-7T= c.1057-7T= (n.1057-7T=) c.425-7T= c.74-7T= (n.74-7T=) | |
8 | g.117835558A>G | CA584341146 | EXT1 | n.524-7T>C c.1057-7T>C (n.1057-7T>C) c.425-7T>C c.74-7T>C (n.74-7T>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.117835563_117835564insAAAAAAA | CA2781902057 | EXT1 | n.524-7_524-6insTTTTTTT c.1057-7_1057-6insTTTTTTT (n.1057-7_1057-6insTTTTTTT) c.425-7_425-6insTTTTTTT c.74-7_74-6insTTTTTTT (n.74-7_74-6insTTTTTTT) | |
8 | g.117835563_117835564insAAAAAAAA | CA584341145 | EXT1 | n.524-7_524-6insTTTTTTTT c.1057-7_1057-6insTTTTTTTT (n.1057-7_1057-6insTTTTTTTT) c.425-7_425-6insTTTTTTTT c.74-7_74-6insTTTTTTTT (n.74-7_74-6insTTTTTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835563_117835564insAAAAAAAAA | CA2781902058 | EXT1 | n.524-7_524-6insTTTTTTTTT c.1057-7_1057-6insTTTTTTTTT (n.1057-7_1057-6insTTTTTTTTT) c.425-7_425-6insTTTTTTTTT c.74-7_74-6insTTTTTTTTT (n.74-7_74-6insTTTTTTTTT) | |
8 | g.117835563_117835564insAAAAAAAAAAA | CA2781902059 | EXT1 | n.524-7_524-6insTTTTTTTTTTT c.1057-7_1057-6insTTTTTTTTTTT (n.1057-7_1057-6insTTTTTTTTTTT) c.425-7_425-6insTTTTTTTTTTT c.74-7_74-6insTTTTTTTTTTT (n.74-7_74-6insTTTTTTTTTTT) | |
8 | g.117835563dup | CA184296675 | EXT1 | n.524-7dup c.1057-7dup (n.1057-7dup) c.425-7dup c.74-7dup (n.74-7dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835559_117835563dup | CA2781902056 | EXT1 | n.524-11_524-7dup c.1057-11_1057-7dup (n.1057-11_1057-7dup) c.425-11_425-7dup c.74-11_74-7dup (n.74-11_74-7dup) | |
8 | g.117835563del | CA2688346680 | EXT1 | n.524-7del c.1057-7del (n.1057-7del) c.425-7del c.74-7del (n.74-7del) | gnomAD v4 |
8 | g.117835559A= | CA1813956727 | EXT1 | n.524-8T= c.1057-8T= (n.1057-8T=) c.425-8T= c.74-8T= (n.74-8T=) | |
8 | g.117835559A>G | CA1118344455 | EXT1 | n.524-8T>C c.1057-8T>C (n.1057-8T>C) c.425-8T>C c.74-8T>C (n.74-8T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.117835563A>G | CA2718164189 | EXT1 | n.524-12T>C c.1057-12T>C (n.1057-12T>C) c.425-12T>C c.74-12T>C (n.74-12T>C) | dbSNP |
8 | g.117835563A>T | CA2688346681 | EXT1 | n.524-12T>A c.1057-12T>A (n.1057-12T>A) c.425-12T>A c.74-12T>A (n.74-12T>A) | gnomAD v4 |
8 | g.117835564G>A | CA4854243 | EXT1 | n.524-13C>T c.1057-13C>T (n.1057-13C>T) c.425-13C>T c.74-13C>T (n.74-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835564G>C | CA2688346683 | EXT1 | n.524-13C>G c.1057-13C>G (n.1057-13C>G) c.425-13C>G c.74-13C>G (n.74-13C>G) | gnomAD v4 |
8 | g.117835564G= | CA1813956728 | EXT1 | n.524-13C= c.1057-13C= (n.1057-13C=) c.425-13C= c.74-13C= (n.74-13C=) | |
8 | g.117835564G>T | CA2688346684 | EXT1 | n.524-13C>A c.1057-13C>A (n.1057-13C>A) c.425-13C>A c.74-13C>A (n.74-13C>A) | gnomAD v4 |
8 | g.117835567del | CA2688346682 | EXT1 | n.524-13del c.1057-13del (n.1057-13del) c.425-13del c.74-13del (n.74-13del) | gnomAD v4 |
8 | g.117835565G>A | CA2579235195 | EXT1 | n.524-14C>T c.1057-14C>T (n.1057-14C>T) c.425-14C>T c.74-14C>T (n.74-14C>T) | gnomAD v4 |
8 | g.117835565G>C | CA2688346685 | EXT1 | n.524-14C>G c.1057-14C>G (n.1057-14C>G) c.425-14C>G c.74-14C>G (n.74-14C>G) | gnomAD v4 |
8 | g.117835566G>A | CA846217081 | EXT1 | n.524-15C>T c.1057-15C>T (n.1057-15C>T) c.425-15C>T c.74-15C>T (n.74-15C>T) | dbSNP |
8 | g.117835566G= | CA1813956729 | EXT1 | n.524-15C= c.1057-15C= (n.1057-15C=) c.425-15C= c.74-15C= (n.74-15C=) | |
8 | g.117835566G>T | CA1813956730 | EXT1 | n.524-15C>A c.1057-15C>A (n.1057-15C>A) c.425-15C>A c.74-15C>A (n.74-15C>A) | dbSNP gnomAD v4 |
8 | g.117835567G>A | CA1813956732 | EXT1 | n.524-16C>T c.1057-16C>T (n.1057-16C>T) c.425-16C>T c.74-16C>T (n.74-16C>T) | dbSNP |
8 | g.117835567G= | CA1813956731 | EXT1 | n.524-16C= c.1057-16C= (n.1057-16C=) c.425-16C= c.74-16C= (n.74-16C=) | |
8 | g.117835567G>T | CA2688346686 | EXT1 | n.524-16C>A c.1057-16C>A (n.1057-16C>A) c.425-16C>A c.74-16C>A (n.74-16C>A) | gnomAD v4 |
8 | g.117835570T>C | CA4854244 | EXT1 | n.524-19A>G c.1057-19A>G (n.1057-19A>G) c.425-19A>G c.74-19A>G (n.74-19A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835570T>G | CA584341148 | EXT1 | n.524-19A>C c.1057-19A>C (n.1057-19A>C) c.425-19A>C c.74-19A>C (n.74-19A>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.117835570T= | CA1813956733 | EXT1 | n.524-19A= c.1057-19A= (n.1057-19A=) c.425-19A= c.74-19A= (n.74-19A=) | |
8 | g.117835571T>C | CA2688346687 | EXT1 | n.524-20A>G c.1057-20A>G (n.1057-20A>G) c.425-20A>G c.74-20A>G (n.74-20A>G) | gnomAD v4 |
8 | g.117835572C= | CA1813956734 | EXT1 | n.524-21G= c.1057-21G= (n.1057-21G=) c.425-21G= c.74-21G= (n.74-21G=) | |
8 | g.117835572C>G | CA4854246 | EXT1 | n.524-21G>C c.1057-21G>C (n.1057-21G>C) c.425-21G>C c.74-21G>C (n.74-21G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.117835572C>T | CA4854245 | EXT1 | n.524-21G>A c.1057-21G>A (n.1057-21G>A) c.425-21G>A c.74-21G>A (n.74-21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835573G>A | CA4854247 | EXT1 | n.524-22C>T c.1057-22C>T (n.1057-22C>T) c.425-22C>T c.74-22C>T (n.74-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835573G= | CA1813956735 | EXT1 | n.524-22C= c.1057-22C= (n.1057-22C=) c.425-22C= c.74-22C= (n.74-22C=) | |
8 | g.117835573G>T | CA2688346688 | EXT1 | n.524-22C>A c.1057-22C>A (n.1057-22C>A) c.425-22C>A c.74-22C>A (n.74-22C>A) | gnomAD v4 |
8 | g.117835574T>A | CA184296718 | EXT1 | n.524-23A>T c.1057-23A>T (n.1057-23A>T) c.425-23A>T c.74-23A>T (n.74-23A>T) | dbSNP |
8 | g.117835574T= | CA1813956736 | EXT1 | n.524-23A= c.1057-23A= (n.1057-23A=) c.425-23A= c.74-23A= (n.74-23A=) | |
8 | g.117835575G>A | CA2688346689 | EXT1 | n.524-24C>T c.1057-24C>T (n.1057-24C>T) c.425-24C>T c.74-24C>T (n.74-24C>T) | dbSNP gnomAD v4 |
8 | g.117835575G>T | CA2688346690 | EXT1 | n.524-24C>A c.1057-24C>A (n.1057-24C>A) c.425-24C>A c.74-24C>A (n.74-24C>A) | gnomAD v4 |
8 | g.117835576A>C | CA2688346691 | EXT1 | n.524-25T>G c.1057-25T>G (n.1057-25T>G) c.425-25T>G c.74-25T>G (n.74-25T>G) | gnomAD v4 |
8 | g.117835577A= | CA1813956737 | EXT1 | n.524-26T= c.1057-26T= (n.1057-26T=) c.425-26T= c.74-26T= (n.74-26T=) | |
8 | g.117835577A>C | CA4854249 | EXT1 | n.524-26T>G c.1057-26T>G (n.1057-26T>G) c.425-26T>G c.74-26T>G (n.74-26T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835577A>T | CA4854248 | EXT1 | n.524-26T>A c.1057-26T>A (n.1057-26T>A) c.425-26T>A c.74-26T>A (n.74-26T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.117835578T>A | CA1118344473 | EXT1 | n.524-27A>T c.1057-27A>T (n.1057-27A>T) c.425-27A>T c.74-27A>T (n.74-27A>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.117835578T>C | CA584341151 | EXT1 | n.524-27A>G c.1057-27A>G (n.1057-27A>G) c.425-27A>G c.74-27A>G (n.74-27A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835578T= | CA1813956738 | EXT1 | n.524-27A= c.1057-27A= (n.1057-27A=) c.425-27A= c.74-27A= (n.74-27A=) | |
8 | g.117835579G>A | CA584341152 | EXT1 | n.524-28C>T c.1057-28C>T (n.1057-28C>T) c.425-28C>T c.74-28C>T (n.74-28C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835579G= | CA1813956739 | EXT1 | n.524-28C= c.1057-28C= (n.1057-28C=) c.425-28C= c.74-28C= (n.74-28C=) | |
8 | g.117835579G>T | CA2688346692 | EXT1 | n.524-28C>A c.1057-28C>A (n.1057-28C>A) c.425-28C>A c.74-28C>A (n.74-28C>A) | gnomAD v4 |
8 | g.117835580T>A | CA2688346693 | EXT1 | n.524-29A>T c.1057-29A>T (n.1057-29A>T) c.425-29A>T c.74-29A>T (n.74-29A>T) | gnomAD v4 |
8 | g.117835580T>C | CA2688346694 | EXT1 | n.524-29A>G c.1057-29A>G (n.1057-29A>G) c.425-29A>G c.74-29A>G (n.74-29A>G) | gnomAD v4 |
8 | g.117835581G>T | CA2688346695 | EXT1 | n.524-30C>A c.1057-30C>A (n.1057-30C>A) c.425-30C>A c.74-30C>A (n.74-30C>A) | gnomAD v4 |
8 | g.117835583G>A | CA4854250 | EXT1 | n.524-32C>T c.1057-32C>T (n.1057-32C>T) c.425-32C>T c.74-32C>T (n.74-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117835583G>C | CA4854251 | EXT1 | n.524-32C>G c.1057-32C>G (n.1057-32C>G) c.425-32C>G c.74-32C>G (n.74-32C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.117835583G= | CA1813956740 | EXT1 | n.524-32C= c.1057-32C= (n.1057-32C=) c.425-32C= c.74-32C= (n.74-32C=) | |
8 | g.117835584G>A | CA184296738 | EXT1 | n.524-33C>T c.1057-33C>T (n.1057-33C>T) c.425-33C>T c.74-33C>T (n.74-33C>T) | dbSNP gnomAD v4 |
8 | g.117835584G>C | CA2688346696 | EXT1 | n.524-33C>G c.1057-33C>G (n.1057-33C>G) c.425-33C>G c.74-33C>G (n.74-33C>G) | gnomAD v4 |
8 | g.117835584G= | CA1813956741 | EXT1 | n.524-33C= c.1057-33C= (n.1057-33C=) c.425-33C= c.74-33C= (n.74-33C=) |