UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.77935885A>C | CA340878595 | NEXN | c.1314A>C (p.Lys438Asn) c.1122A>C (p.Lys374Asn) c.1013A>C c.1272A>C (p.Lys424Asn) n.774A>C n.888A>C c.1251+2406A>C (n.1251+2406A>C) c.1080A>C (p.Lys360Asn) c.897A>C (p.Lys299Asn) | |
| 1 | g.77935885A>G | CA418709355 | NEXN | c.1314A>G (p.Lys438=) c.1122A>G (p.Lys374=) c.1013A>G c.1272A>G (p.Lys424=) n.774A>G n.888A>G c.1251+2406A>G (n.1251+2406A>G) c.1080A>G (p.Lys360=) c.897A>G (p.Lys299=) | |
| 1 | g.77935885A>T | CA340878594 | NEXN | c.1314A>T (p.Lys438Asn) c.1122A>T (p.Lys374Asn) c.1013A>T c.1272A>T (p.Lys424Asn) n.774A>T n.888A>T c.1251+2406A>T (n.1251+2406A>T) c.1080A>T (p.Lys360Asn) c.897A>T (p.Lys299Asn) | |
| 1 | g.77935886A>C | CA418709356 | NEXN | c.1315A>C (p.Arg439=) c.1123A>C (p.Arg375=) c.1014A>C c.1273A>C (p.Arg425=) n.775A>C n.889A>C c.1251+2407A>C (n.1251+2407A>C) c.1081A>C (p.Arg361=) c.898A>C (p.Arg300=) | |
| 1 | g.77935886A>G | CA340878596 | NEXN | c.1315A>G (p.Arg439Gly) c.1123A>G (p.Arg375Gly) c.1014A>G c.1273A>G (p.Arg425Gly) n.775A>G n.889A>G c.1251+2407A>G (n.1251+2407A>G) c.1081A>G (p.Arg361Gly) c.898A>G (p.Arg300Gly) | |
| 1 | g.77935886A>T | CA340878597 | NEXN | c.1315A>T (p.Arg439Trp) c.1123A>T (p.Arg375Trp) c.1014A>T c.1273A>T (p.Arg425Trp) n.775A>T n.889A>T c.1251+2407A>T (n.1251+2407A>T) c.1081A>T (p.Arg361Trp) c.898A>T (p.Arg300Trp) | |
| 1 | g.77935887G>A | CA918859 | NEXN | c.1316G>A (p.Arg439Lys) c.1124G>A (p.Arg375Lys) c.1015G>A c.1274G>A (p.Arg425Lys) n.776G>A n.890G>A c.1251+2408G>A (n.1251+2408G>A) c.1082G>A (p.Arg361Lys) c.899G>A (p.Arg300Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935887G>C | CA340878598 | NEXN | c.1316G>C (p.Arg439Thr) c.1124G>C (p.Arg375Thr) c.1015G>C c.1274G>C (p.Arg425Thr) n.776G>C n.890G>C c.1251+2408G>C (n.1251+2408G>C) c.1082G>C (p.Arg361Thr) c.899G>C (p.Arg300Thr) | |
| 1 | g.77935887G= | CA1143388511 | NEXN | c.1316G= (p.Arg439=) c.1124G= (p.Arg375=) c.1015G= c.1274G= (p.Arg425=) n.776G= n.890G= c.1251+2408G= (n.1251+2408G=) c.1082G= (p.Arg361=) c.899G= (p.Arg300=) | |
| 1 | g.77935887G>T | CA340878602 | NEXN | c.1316G>T (p.Arg439Met) c.1124G>T (p.Arg375Met) c.1015G>T c.1274G>T (p.Arg425Met) n.776G>T n.890G>T c.1251+2408G>T (n.1251+2408G>T) c.1082G>T (p.Arg361Met) c.899G>T (p.Arg300Met) | COSMIC COSMIC |
| 1 | g.77935888G>A | CA418709357 | NEXN | c.1317G>A (p.Arg439=) c.1125G>A (p.Arg375=) c.1016G>A c.1275G>A (p.Arg425=) n.777G>A n.891G>A c.1251+2409G>A (n.1251+2409G>A) c.1083G>A (p.Arg361=) c.900G>A (p.Arg300=) | gnomAD v4 |
| 1 | g.77935888G>C | CA340878606 | NEXN | c.1317G>C (p.Arg439Ser) c.1125G>C (p.Arg375Ser) c.1016G>C c.1275G>C (p.Arg425Ser) n.777G>C n.891G>C c.1251+2409G>C (n.1251+2409G>C) c.1083G>C (p.Arg361Ser) c.900G>C (p.Arg300Ser) | |
| 1 | g.77935888G>T | CA340878607 | NEXN | c.1317G>T (p.Arg439Ser) c.1125G>T (p.Arg375Ser) c.1016G>T c.1275G>T (p.Arg425Ser) n.777G>T n.891G>T c.1251+2409G>T (n.1251+2409G>T) c.1083G>T (p.Arg361Ser) c.900G>T (p.Arg300Ser) | |
| 1 | g.77935889_77935892dup | CA2646274714 | NEXN | c.1318_1321dup (p.Gly441GlufsTer7) c.1126_1129dup (p.Gly377GlufsTer7) c.1017_1020dup c.1276_1279dup (p.Gly427GlufsTer7) n.778_781dup n.892_895dup c.1251+2410_1251+2413dup (n.1251+2410_1251+2413dup) c.1084_1087dup (p.Gly363GlufsTer7) c.901_904dup (p.Gly302GlufsTer7) | gnomAD v4 |
| 1 | g.77935889A>C | CA340878610 | NEXN | c.1318A>C (p.Ser440Arg) c.1126A>C (p.Ser376Arg) c.1017A>C c.1276A>C (p.Ser426Arg) n.778A>C n.892A>C c.1251+2410A>C (n.1251+2410A>C) c.1084A>C (p.Ser362Arg) c.901A>C (p.Ser301Arg) | |
| 1 | g.77935889A>G | CA340878611 | NEXN | c.1318A>G (p.Ser440Gly) c.1126A>G (p.Ser376Gly) c.1017A>G c.1276A>G (p.Ser426Gly) n.778A>G n.892A>G c.1251+2410A>G (n.1251+2410A>G) c.1084A>G (p.Ser362Gly) c.901A>G (p.Ser301Gly) | |
| 1 | g.77935889A>T | CA340878616 | NEXN | c.1318A>T (p.Ser440Cys) c.1126A>T (p.Ser376Cys) c.1017A>T c.1276A>T (p.Ser426Cys) n.778A>T n.892A>T c.1251+2410A>T (n.1251+2410A>T) c.1084A>T (p.Ser362Cys) c.901A>T (p.Ser301Cys) | |
| 1 | g.77935889dup | CA2744232141 | NEXN | c.1318dup (p.Ser440LysfsTer7) c.1126dup (p.Ser376LysfsTer7) c.1017dup c.1276dup (p.Ser426LysfsTer7) n.778dup n.892dup c.1251+2410dup (n.1251+2410dup) c.1084dup (p.Ser362LysfsTer7) c.901dup (p.Ser301LysfsTer7) | |
| 1 | g.77935890G>A | CA918860 | NEXN | c.1319G>A (p.Ser440Asn) c.1127G>A (p.Ser376Asn) c.1018G>A c.1277G>A (p.Ser426Asn) n.779G>A n.893G>A c.1251+2411G>A (n.1251+2411G>A) c.1085G>A (p.Ser362Asn) c.902G>A (p.Ser301Asn) | dbSNP ExAC |
| 1 | g.77935890G>C | CA340878624 | NEXN | c.1319G>C (p.Ser440Thr) c.1127G>C (p.Ser376Thr) c.1018G>C c.1277G>C (p.Ser426Thr) n.779G>C n.893G>C c.1251+2411G>C (n.1251+2411G>C) c.1085G>C (p.Ser362Thr) c.902G>C (p.Ser301Thr) | |
| 1 | g.77935890G= | CA1177628286 | NEXN | c.1319G= (p.Ser440=) c.1127G= (p.Ser376=) c.1018G= c.1277G= (p.Ser426=) n.779G= n.893G= c.1251+2411G= (n.1251+2411G=) c.1085G= (p.Ser362=) c.902G= (p.Ser301=) | |
| 1 | g.77935890G>T | CA340878628 | NEXN | c.1319G>T (p.Ser440Ile) c.1127G>T (p.Ser376Ile) c.1018G>T c.1277G>T (p.Ser426Ile) n.779G>T n.893G>T c.1251+2411G>T (n.1251+2411G>T) c.1085G>T (p.Ser362Ile) c.902G>T (p.Ser301Ile) | |
| 1 | g.77935891_77935892del | CA2580652575 | NEXN | c.1320_1321del (p.Ser440ArgfsTer6) c.1128_1129del (p.Ser376ArgfsTer6) c.1019_1020del c.1278_1279del (p.Ser426ArgfsTer6) n.780_781del n.894_895del c.1251+2412_1251+2413del (n.1251+2412_1251+2413del) c.1086_1087del (p.Ser362ArgfsTer6) c.903_904del (p.Ser301ArgfsTer6) | |
| 1 | g.77935891T>A | CA340878638 | NEXN | c.1320T>A (p.Ser440Arg) c.1128T>A (p.Ser376Arg) c.1019T>A c.1278T>A (p.Ser426Arg) n.780T>A n.894T>A c.1251+2412T>A (n.1251+2412T>A) c.1086T>A (p.Ser362Arg) c.903T>A (p.Ser301Arg) | |
| 1 | g.77935891T>C | CA918861 | NEXN | c.1320T>C (p.Ser440=) c.1128T>C (p.Ser376=) c.1019T>C c.1278T>C (p.Ser426=) n.780T>C n.894T>C c.1251+2412T>C (n.1251+2412T>C) c.1086T>C (p.Ser362=) c.903T>C (p.Ser301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935891T>G | CA340878637 | NEXN | c.1320T>G (p.Ser440Arg) c.1128T>G (p.Ser376Arg) c.1019T>G c.1278T>G (p.Ser426Arg) n.780T>G n.894T>G c.1251+2412T>G (n.1251+2412T>G) c.1086T>G (p.Ser362Arg) c.903T>G (p.Ser301Arg) | |
| 1 | g.77935891T= | CA1177628287 | NEXN | c.1320T= (p.Ser440=) c.1128T= (p.Ser376=) c.1019T= c.1278T= (p.Ser426=) n.780T= n.894T= c.1251+2412T= (n.1251+2412T=) c.1086T= (p.Ser362=) c.903T= (p.Ser301=) | |
| 1 | g.77935892G>A | CA340878639 | NEXN | c.1321G>A (p.Gly441Ser) c.1129G>A (p.Gly377Ser) c.1020G>A c.1279G>A (p.Gly427Ser) n.781G>A n.895G>A c.1251+2413G>A (n.1251+2413G>A) c.1087G>A (p.Gly363Ser) c.904G>A (p.Gly302Ser) | |
| 1 | g.77935892G>C | CA340878640 | NEXN | c.1321G>C (p.Gly441Arg) c.1129G>C (p.Gly377Arg) c.1020G>C c.1279G>C (p.Gly427Arg) n.781G>C n.895G>C c.1251+2413G>C (n.1251+2413G>C) c.1087G>C (p.Gly363Arg) c.904G>C (p.Gly302Arg) | |
| 1 | g.77935892G= | CA1177628288 | NEXN | c.1321G= (p.Gly441=) c.1129G= (p.Gly377=) c.1020G= c.1279G= (p.Gly427=) n.781G= n.895G= c.1251+2413G= (n.1251+2413G=) c.1087G= (p.Gly363=) c.904G= (p.Gly302=) | |
| 1 | g.77935892G>T | CA340878643 | NEXN | c.1321G>T (p.Gly441Cys) c.1129G>T (p.Gly377Cys) c.1020G>T c.1279G>T (p.Gly427Cys) n.781G>T n.895G>T c.1251+2413G>T (n.1251+2413G>T) c.1087G>T (p.Gly363Cys) c.904G>T (p.Gly302Cys) | ClinVar dbSNP |
| 1 | g.77935892_77935893del | CA2580652576 | NEXN | c.1321_1322del (p.Gly441LeufsTer5) c.1129_1130del (p.Gly377LeufsTer5) c.1020_1021del c.1279_1280del (p.Gly427LeufsTer5) n.781_782del n.895_896del c.1251+2413_1251+2414del (n.1251+2413_1251+2414del) c.1087_1088del (p.Gly363LeufsTer5) c.904_905del (p.Gly302LeufsTer5) | |
| 1 | g.77935893G>A | CA340878653 | NEXN | c.1322G>A (p.Gly441Asp) c.1130G>A (p.Gly377Asp) c.1021G>A c.1280G>A (p.Gly427Asp) n.782G>A n.896G>A c.1251+2414G>A (n.1251+2414G>A) c.1088G>A (p.Gly363Asp) c.905G>A (p.Gly302Asp) | ClinVar dbSNP |
| 1 | g.77935893G>C | CA340878658 | NEXN | c.1322G>C (p.Gly441Ala) c.1130G>C (p.Gly377Ala) c.1021G>C c.1280G>C (p.Gly427Ala) n.782G>C n.896G>C c.1251+2414G>C (n.1251+2414G>C) c.1088G>C (p.Gly363Ala) c.905G>C (p.Gly302Ala) | |
| 1 | g.77935893G>T | CA340878659 | NEXN | c.1322G>T (p.Gly441Val) c.1130G>T (p.Gly377Val) c.1021G>T c.1280G>T (p.Gly427Val) n.782G>T n.896G>T c.1251+2414G>T (n.1251+2414G>T) c.1088G>T (p.Gly363Val) c.905G>T (p.Gly302Val) | |
| 1 | g.77935894C>A | CA418709364 | NEXN | c.1323C>A (p.Gly441=) c.1131C>A (p.Gly377=) c.1022C>A c.1281C>A (p.Gly427=) n.783C>A n.897C>A c.1251+2415C>A (n.1251+2415C>A) c.1089C>A (p.Gly363=) c.906C>A (p.Gly302=) | |
| 1 | g.77935894C= | CA1177628289 | NEXN | c.1323C= (p.Gly441=) c.1131C= (p.Gly377=) c.1022C= c.1281C= (p.Gly427=) n.783C= n.897C= c.1251+2415C= (n.1251+2415C=) c.1089C= (p.Gly363=) c.906C= (p.Gly302=) | |
| 1 | g.77935894C>G | CA418709365 | NEXN | c.1323C>G (p.Gly441=) c.1131C>G (p.Gly377=) c.1022C>G c.1281C>G (p.Gly427=) n.783C>G n.897C>G c.1251+2415C>G (n.1251+2415C>G) c.1089C>G (p.Gly363=) c.906C>G (p.Gly302=) | |
| 1 | g.77935894C>T | CA418709366 | NEXN | c.1323C>T (p.Gly441=) c.1131C>T (p.Gly377=) c.1022C>T c.1281C>T (p.Gly427=) n.783C>T n.897C>T c.1251+2415C>T (n.1251+2415C>T) c.1089C>T (p.Gly363=) c.906C>T (p.Gly302=) | dbSNP |
| 1 | g.77935895T>A | CA340878662 | NEXN | c.1324T>A (p.Ser442Thr) c.1132T>A (p.Ser378Thr) c.1023T>A c.1282T>A (p.Ser428Thr) n.784T>A n.898T>A c.1251+2416T>A (n.1251+2416T>A) c.1090T>A (p.Ser364Thr) c.907T>A (p.Ser303Thr) | gnomAD v4 |
| 1 | g.77935895T>C | CA340878664 | NEXN | c.1324T>C (p.Ser442Pro) c.1132T>C (p.Ser378Pro) c.1023T>C c.1282T>C (p.Ser428Pro) n.784T>C n.898T>C c.1251+2416T>C (n.1251+2416T>C) c.1090T>C (p.Ser364Pro) c.907T>C (p.Ser303Pro) | |
| 1 | g.77935895T>G | CA340878672 | NEXN | c.1324T>G (p.Ser442Ala) c.1132T>G (p.Ser378Ala) c.1023T>G c.1282T>G (p.Ser428Ala) n.784T>G n.898T>G c.1251+2416T>G (n.1251+2416T>G) c.1090T>G (p.Ser364Ala) c.907T>G (p.Ser303Ala) | |
| 1 | g.77935896C>A | CA340878674 | NEXN | c.1325C>A (p.Ser442Tyr) c.1133C>A (p.Ser378Tyr) c.1024C>A c.1283C>A (p.Ser428Tyr) n.785C>A n.899C>A c.1251+2417C>A (n.1251+2417C>A) c.1091C>A (p.Ser364Tyr) c.908C>A (p.Ser303Tyr) | dbSNP |
| 1 | g.77935896C= | CA1177628290 | NEXN | c.1325C= (p.Ser442=) c.1133C= (p.Ser378=) c.1024C= c.1283C= (p.Ser428=) n.785C= n.899C= c.1251+2417C= (n.1251+2417C=) c.1091C= (p.Ser364=) c.908C= (p.Ser303=) | |
| 1 | g.77935896C>G | CA340878676 | NEXN | c.1325C>G (p.Ser442Cys) c.1133C>G (p.Ser378Cys) c.1024C>G c.1283C>G (p.Ser428Cys) n.785C>G n.899C>G c.1251+2417C>G (n.1251+2417C>G) c.1091C>G (p.Ser364Cys) c.908C>G (p.Ser303Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935896C>T | CA340878685 | NEXN | c.1325C>T (p.Ser442Phe) c.1133C>T (p.Ser378Phe) c.1024C>T c.1283C>T (p.Ser428Phe) n.785C>T n.899C>T c.1251+2417C>T (n.1251+2417C>T) c.1091C>T (p.Ser364Phe) c.908C>T (p.Ser303Phe) | |
| 1 | g.77935897T>A | CA418709368 | NEXN | c.1326T>A (p.Ser442=) c.1134T>A (p.Ser378=) c.1025T>A c.1284T>A (p.Ser428=) n.786T>A n.900T>A c.1251+2418T>A (n.1251+2418T>A) c.1092T>A (p.Ser364=) c.909T>A (p.Ser303=) | dbSNP |
| 1 | g.77935897T>C | CA24686464 | NEXN | c.1326T>C (p.Ser442=) c.1134T>C (p.Ser378=) c.1025T>C c.1284T>C (p.Ser428=) n.786T>C n.900T>C c.1251+2418T>C (n.1251+2418T>C) c.1092T>C (p.Ser364=) c.909T>C (p.Ser303=) | dbSNP gnomAD v4 |
| 1 | g.77935897T>G | CA418709370 | NEXN | c.1326T>G (p.Ser442=) c.1134T>G (p.Ser378=) c.1025T>G c.1284T>G (p.Ser428=) n.786T>G n.900T>G c.1251+2418T>G (n.1251+2418T>G) c.1092T>G (p.Ser364=) c.909T>G (p.Ser303=) | |
| 1 | g.77935897T= | CA1177628291 | NEXN | c.1326T= (p.Ser442=) c.1134T= (p.Ser378=) c.1025T= c.1284T= (p.Ser428=) n.786T= n.900T= c.1251+2418T= (n.1251+2418T=) c.1092T= (p.Ser364=) c.909T= (p.Ser303=) |