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 |
|---|---|---|---|---|---|
| 17 | g.4933681del | CA658820739 | CHRNE,GP1BA | c.1077del (p.Trp359Ter) c.-888+662del (n.-888+662del) | gnomAD v4 |
| 17 | g.4933681G>A | CA116657 | CHRNE,GP1BA | c.1077G>A (p.Trp359Ter) c.-888+661C>T (n.-888+661C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933681G>C | CA397319862 | CHRNE,GP1BA | c.1077G>C (p.Trp359Cys) c.-888+661C>G (n.-888+661C>G) | |
| 17 | g.4933681G= | CA2244625673 | CHRNE,GP1BA | c.1077G= (p.Trp359=) c.-888+661C= (n.-888+661C=) | |
| 17 | g.4933681G>T | CA397319863 | CHRNE,GP1BA | c.1077G>T (p.Trp359Cys) c.-888+661C>A (n.-888+661C>A) | |
| 17 | g.4933682A= | CA2244625674 | CHRNE,GP1BA | c.1078A= (p.Thr360=) c.-888+660T= (n.-888+660T=) | |
| 17 | g.4933682A>C | CA397319868 | CHRNE,GP1BA | c.1078A>C (p.Thr360Pro) c.-888+660T>G (n.-888+660T>G) | |
| 17 | g.4933682A>G | CA397319870 | CHRNE,GP1BA | c.1078A>G (p.Thr360Ala) c.-888+660T>C (n.-888+660T>C) | |
| 17 | g.4933682A>T | CA8314894 | CHRNE,GP1BA | c.1078A>T (p.Thr360Ser) c.-888+660T>A (n.-888+660T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933683C>A | CA397319873 | CHRNE,GP1BA | c.1079C>A (p.Thr360Asn) c.-888+659G>T (n.-888+659G>T) | |
| 17 | g.4933683C>G | CA397319874 | CHRNE,GP1BA | c.1079C>G (p.Thr360Ser) c.-888+659G>C (n.-888+659G>C) | |
| 17 | g.4933683C>T | CA397319877 | CHRNE,GP1BA | c.1079C>T (p.Thr360Ile) c.-888+659G>A (n.-888+659G>A) | |
| 17 | g.4933684C>A | CA8314895 | CHRNE,GP1BA | c.1080C>A (p.Thr360=) c.-888+658G>T (n.-888+658G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933684C= | CA2244625675 | CHRNE,GP1BA | c.1080C= (p.Thr360=) c.-888+658G= (n.-888+658G=) | |
| 17 | g.4933684C>G | CA497678479 | CHRNE,GP1BA | c.1080C>G (p.Thr360=) c.-888+658G>C (n.-888+658G>C) | |
| 17 | g.4933684C>T | CA497678481 | CHRNE,GP1BA | c.1080C>T (p.Thr360=) c.-888+658G>A (n.-888+658G>A) | |
| 17 | g.4933685C>A | CA397319880 | CHRNE,GP1BA | c.1081C>A (p.Pro361Thr) c.-888+657G>T (n.-888+657G>T) | |
| 17 | g.4933685C= | CA2244625676 | CHRNE,GP1BA | c.1081C= (p.Pro361=) c.-888+657G= (n.-888+657G=) | |
| 17 | g.4933685C>G | CA397319881 | CHRNE,GP1BA | c.1081C>G (p.Pro361Ala) c.-888+657G>C (n.-888+657G>C) | |
| 17 | g.4933685C>T | CA397319882 | CHRNE,GP1BA | c.1081C>T (p.Pro361Ser) c.-888+657G>A (n.-888+657G>A) | dbSNP |
| 17 | g.4933686C>A | CA397319885 | CHRNE,GP1BA | c.1082C>A (p.Pro361Gln) c.-888+656G>T (n.-888+656G>T) | |
| 17 | g.4933686C= | CA2244625677 | CHRNE,GP1BA | c.1082C= (p.Pro361=) c.-888+656G= (n.-888+656G=) | |
| 17 | g.4933686C>G | CA397319886 | CHRNE,GP1BA | c.1082C>G (p.Pro361Arg) c.-888+656G>C (n.-888+656G>C) | dbSNP |
| 17 | g.4933686C>T | CA397319888 | CHRNE,GP1BA | c.1082C>T (p.Pro361Leu) c.-888+656G>A (n.-888+656G>A) | gnomAD v4 |
| 17 | g.4933687A>C | CA497678485 | CHRNE,GP1BA | c.1083A>C (p.Pro361=) c.-888+655T>G (n.-888+655T>G) | |
| 17 | g.4933687A>G | CA497678487 | CHRNE,GP1BA | c.1083A>G (p.Pro361=) c.-888+655T>C (n.-888+655T>C) | |
| 17 | g.4933687A>T | CA497678489 | CHRNE,GP1BA | c.1083A>T (p.Pro361=) c.-888+655T>A (n.-888+655T>A) | |
| 17 | g.4933688A>C | CA397319890 | CHRNE,GP1BA | c.1084A>C (p.Asn362His) c.-888+654T>G (n.-888+654T>G) | |
| 17 | g.4933688A>G | CA397319892 | CHRNE,GP1BA | c.1084A>G (p.Asn362Asp) c.-888+654T>C (n.-888+654T>C) | |
| 17 | g.4933688A>T | CA397319893 | CHRNE,GP1BA | c.1084A>T (p.Asn362Tyr) c.-888+654T>A (n.-888+654T>A) | |
| 17 | g.4933689A>C | CA397319899 | CHRNE,GP1BA | c.1085A>C (p.Asn362Thr) c.-888+653T>G (n.-888+653T>G) | |
| 17 | g.4933689A>G | CA397319896 | CHRNE,GP1BA | c.1085A>G (p.Asn362Ser) c.-888+653T>C (n.-888+653T>C) | |
| 17 | g.4933689A>T | CA397319895 | CHRNE,GP1BA | c.1085A>T (p.Asn362Ile) c.-888+653T>A (n.-888+653T>A) | dbSNP |
| 17 | g.4933690T>A | CA397319900 | CHRNE,GP1BA | c.1086T>A (p.Asn362Lys) c.-888+652A>T (n.-888+652A>T) | |
| 17 | g.4933690T>C | CA497678491 | CHRNE,GP1BA | c.1086T>C (p.Asn362=) c.-888+652A>G (n.-888+652A>G) | |
| 17 | g.4933690T>G | CA397319901 | CHRNE,GP1BA | c.1086T>G (p.Asn362Lys) c.-888+652A>C (n.-888+652A>C) | |
| 17 | g.4933691T>A | CA397319903 | CHRNE,GP1BA | c.1087T>A (p.Phe363Ile) c.-888+651A>T (n.-888+651A>T) | |
| 17 | g.4933691T>C | CA397319905 | CHRNE,GP1BA | c.1087T>C (p.Phe363Leu) c.-888+651A>G (n.-888+651A>G) | |
| 17 | g.4933691T>G | CA397319908 | CHRNE,GP1BA | c.1087T>G (p.Phe363Val) c.-888+651A>C (n.-888+651A>C) | |
| 17 | g.4933692T>A | CA397319910 | CHRNE,GP1BA | c.1088T>A (p.Phe363Tyr) c.-888+650A>T (n.-888+650A>T) | |
| 17 | g.4933692T>C | CA397319912 | CHRNE,GP1BA | c.1088T>C (p.Phe363Ser) c.-888+650A>G (n.-888+650A>G) | |
| 17 | g.4933692T>G | CA397319913 | CHRNE,GP1BA | c.1088T>G (p.Phe363Cys) c.-888+650A>C (n.-888+650A>C) | |
| 17 | g.4933693C>A | CA397319915 | CHRNE,GP1BA | c.1089C>A (p.Phe363Leu) c.-888+649G>T (n.-888+649G>T) | |
| 17 | g.4933693C>G | CA397319918 | CHRNE,GP1BA | c.1089C>G (p.Phe363Leu) c.-888+649G>C (n.-888+649G>C) | |
| 17 | g.4933693C>T | CA497678494 | CHRNE,GP1BA | c.1089C>T (p.Phe363=) c.-888+649G>A (n.-888+649G>A) | |
| 17 | g.4933694A>C | CA397319921 | CHRNE,GP1BA | c.1090A>C (p.Thr364Pro) c.-888+648T>G (n.-888+648T>G) | |
| 17 | g.4933694A>G | CA397319923 | CHRNE,GP1BA | c.1090A>G (p.Thr364Ala) c.-888+648T>C (n.-888+648T>C) | |
| 17 | g.4933694A>T | CA397319926 | CHRNE,GP1BA | c.1090A>T (p.Thr364Ser) c.-888+648T>A (n.-888+648T>A) | |
| 17 | g.4933695C>A | CA397319930 | CHRNE,GP1BA | c.1091C>A (p.Thr364Lys) c.-888+647G>T (n.-888+647G>T) | |
| 17 | g.4933695C= | CA2244625678 | CHRNE,GP1BA | c.1091C= (p.Thr364=) c.-888+647G= (n.-888+647G=) | |
| 17 | g.4933695C>G | CA397319933 | CHRNE,GP1BA | c.1091C>G (p.Thr364Arg) c.-888+647G>C (n.-888+647G>C) | |
| 17 | g.4933695C>T | CA287216912 | CHRNE,GP1BA | c.1091C>T (p.Thr364Ile) c.-888+647G>A (n.-888+647G>A) | dbSNP |
| 17 | g.4933696A>C | CA497678499 | CHRNE,GP1BA | c.1092A>C (p.Thr364=) c.-888+646T>G (n.-888+646T>G) | |
| 17 | g.4933696A>G | CA497678498 | CHRNE,GP1BA | c.1092A>G (p.Thr364=) c.-888+646T>C (n.-888+646T>C) | |
| 17 | g.4933696A>T | CA497678496 | CHRNE,GP1BA | c.1092A>T (p.Thr364=) c.-888+646T>A (n.-888+646T>A) | |
| 17 | g.4933697C>A | CA397319940 | CHRNE,GP1BA | c.1093C>A (p.Leu365Ile) c.-888+645G>T (n.-888+645G>T) | |
| 17 | g.4933697C= | CA2244625679 | CHRNE,GP1BA | c.1093C= (p.Leu365=) c.-888+645G= (n.-888+645G=) | |
| 17 | g.4933697C>G | CA8314896 | CHRNE,GP1BA | c.1093C>G (p.Leu365Val) c.-888+645G>C (n.-888+645G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933697C>T | CA397319937 | CHRNE,GP1BA | c.1093C>T (p.Leu365Phe) c.-888+645G>A (n.-888+645G>A) | |
| 17 | g.4933698T>A | CA397319943 | CHRNE,GP1BA | c.1094T>A (p.Leu365His) c.-888+644A>T (n.-888+644A>T) | |
| 17 | g.4933698T>C | CA8314897 | CHRNE,GP1BA | c.1094T>C (p.Leu365Pro) c.-888+644A>G (n.-888+644A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933698T>G | CA397319946 | CHRNE,GP1BA | c.1094T>G (p.Leu365Arg) c.-888+644A>C (n.-888+644A>C) | |
| 17 | g.4933698T= | CA2244625680 | CHRNE,GP1BA | c.1094T= (p.Leu365=) c.-888+644A= (n.-888+644A=) | |
| 17 | g.4933698_4933705del | CA658820740 | CHRNE,GP1BA | c.1094_1101del (p.Leu365ArgfsTer14) c.-888+637_-888+644del (n.-888+637_-888+644del) | |
| 17 | g.4933699T>A | CA497678506 | CHRNE,GP1BA | c.1095T>A (p.Leu365=) c.-888+643A>T (n.-888+643A>T) | |
| 17 | g.4933699T>C | CA497678507 | CHRNE,GP1BA | c.1095T>C (p.Leu365=) c.-888+643A>G (n.-888+643A>G) | |
| 17 | g.4933699T>G | CA497678508 | CHRNE,GP1BA | c.1095T>G (p.Leu365=) c.-888+643A>C (n.-888+643A>C) | |
| 17 | g.4933700del | CA2635578989 | CHRNE,GP1BA | c.1096del (p.His366ThrfsTer?) c.-888+642del (n.-888+642del) | gnomAD v4 |
| 17 | g.4933700C>A | CA397319949 | CHRNE,GP1BA | c.1096C>A (p.His366Asn) c.-888+642G>T (n.-888+642G>T) | |
| 17 | g.4933700C>G | CA397319951 | CHRNE,GP1BA | c.1096C>G (p.His366Asp) c.-888+642G>C (n.-888+642G>C) | |
| 17 | g.4933700C>T | CA397319953 | CHRNE,GP1BA | c.1096C>T (p.His366Tyr) c.-888+642G>A (n.-888+642G>A) | |
| 17 | g.4933701A>C | CA397319957 | CHRNE,GP1BA | c.1097A>C (p.His366Pro) c.-888+641T>G (n.-888+641T>G) | |
| 17 | g.4933701A>G | CA397319962 | CHRNE,GP1BA | c.1097A>G (p.His366Arg) c.-888+641T>C (n.-888+641T>C) | |
| 17 | g.4933701A>T | CA397319965 | CHRNE,GP1BA | c.1097A>T (p.His366Leu) c.-888+641T>A (n.-888+641T>A) | |
| 17 | g.4933702C>A | CA397319966 | CHRNE,GP1BA | c.1098C>A (p.His366Gln) c.-888+640G>T (n.-888+640G>T) | |
| 17 | g.4933702C= | CA2244625681 | CHRNE,GP1BA | c.1098C= (p.His366=) c.-888+640G= (n.-888+640G=) | |
| 17 | g.4933702C>G | CA397319974 | CHRNE,GP1BA | c.1098C>G (p.His366Gln) c.-888+640G>C (n.-888+640G>C) | |
| 17 | g.4933702C>T | CA497678513 | CHRNE,GP1BA | c.1098C>T (p.His366=) c.-888+640G>A (n.-888+640G>A) | dbSNP |
| 17 | g.4933703A= | CA2244625682 | CHRNE,GP1BA | c.1099A= (p.Met367=) c.-888+639T= (n.-888+639T=) | |
| 17 | g.4933703A>C | CA397319987 | CHRNE,GP1BA | c.1099A>C (p.Met367Leu) c.-888+639T>G (n.-888+639T>G) | |
| 17 | g.4933703A>G | CA397319985 | CHRNE,GP1BA | c.1099A>G (p.Met367Val) c.-888+639T>C (n.-888+639T>C) | dbSNP gnomAD v4 |
| 17 | g.4933703A>T | CA397319977 | CHRNE,GP1BA | c.1099A>T (p.Met367Leu) c.-888+639T>A (n.-888+639T>A) | |
| 17 | g.4933704T>A | CA397319991 | CHRNE,GP1BA | c.1100T>A (p.Met367Lys) c.-888+638A>T (n.-888+638A>T) | |
| 17 | g.4933704T>C | CA397319992 | CHRNE,GP1BA | c.1100T>C (p.Met367Thr) c.-888+638A>G (n.-888+638A>G) | |
| 17 | g.4933704T>G | CA397319994 | CHRNE,GP1BA | c.1100T>G (p.Met367Arg) c.-888+638A>C (n.-888+638A>C) | |
| 17 | g.4933705G>A | CA397319998 | CHRNE,GP1BA | c.1101G>A (p.Met367Ile) c.-888+637C>T (n.-888+637C>T) | |
| 17 | g.4933705G>C | CA397320000 | CHRNE,GP1BA | c.1101G>C (p.Met367Ile) c.-888+637C>G (n.-888+637C>G) | |
| 17 | g.4933705G>T | CA397320003 | CHRNE,GP1BA | c.1101G>T (p.Met367Ile) c.-888+637C>A (n.-888+637C>A) | |
| 17 | g.4933706G>A | CA397320005 | CHRNE,GP1BA | c.1102G>A (p.Glu368Lys) c.-888+636C>T (n.-888+636C>T) | |
| 17 | g.4933706G>C | CA397320008 | CHRNE,GP1BA | c.1102G>C (p.Glu368Gln) c.-888+636C>G (n.-888+636C>G) | |
| 17 | g.4933706G>T | CA397320010 | CHRNE,GP1BA | c.1102G>T (p.Glu368Ter) c.-888+636C>A (n.-888+636C>A) | |
| 17 | g.4933707A= | CA2244625683 | CHRNE,GP1BA | c.1103A= (p.Glu368=) c.-888+635T= (n.-888+635T=) | |
| 17 | g.4933707A>C | CA397320011 | CHRNE,GP1BA | c.1103A>C (p.Glu368Ala) c.-888+635T>G (n.-888+635T>G) | |
| 17 | g.4933707A>G | CA397320014 | CHRNE,GP1BA | c.1103A>G (p.Glu368Gly) c.-888+635T>C (n.-888+635T>C) | |
| 17 | g.4933707A>T | CA397320016 | CHRNE,GP1BA | c.1103A>T (p.Glu368Val) c.-888+635T>A (n.-888+635T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933708A>C | CA397320017 | CHRNE,GP1BA | c.1104A>C (p.Glu368Asp) c.-888+634T>G (n.-888+634T>G) | |
| 17 | g.4933708A>G | CA497678525 | CHRNE,GP1BA | c.1104A>G (p.Glu368=) c.-888+634T>C (n.-888+634T>C) | |
| 17 | g.4933708A>T | CA397320020 | CHRNE,GP1BA | c.1104A>T (p.Glu368Asp) c.-888+634T>A (n.-888+634T>A) | |
| 17 | g.4933709T>A | CA287216925 | CHRNE,GP1BA | c.1105T>A (p.Ser369Thr) c.-888+633A>T (n.-888+633A>T) | dbSNP gnomAD v4 |
| 17 | g.4933709T>C | CA397320025 | CHRNE,GP1BA | c.1105T>C (p.Ser369Pro) c.-888+633A>G (n.-888+633A>G) | gnomAD v4 |
| 17 | g.4933709T>G | CA8314898 | CHRNE,GP1BA | c.1105T>G (p.Ser369Ala) c.-888+633A>C (n.-888+633A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933709T= | CA2244625684 | CHRNE,GP1BA | c.1105T= (p.Ser369=) c.-888+633A= (n.-888+633A=) | |
| 17 | g.4933710C>A | CA397320028 | CHRNE,GP1BA | c.1106C>A (p.Ser369Tyr) c.-888+632G>T (n.-888+632G>T) | |
| 17 | g.4933710C>G | CA397320030 | CHRNE,GP1BA | c.1106C>G (p.Ser369Cys) c.-888+632G>C (n.-888+632G>C) | |
| 17 | g.4933710C>T | CA397320032 | CHRNE,GP1BA | c.1106C>T (p.Ser369Phe) c.-888+632G>A (n.-888+632G>A) | |
| 17 | g.4933711C>A | CA497678526 | CHRNE,GP1BA | c.1107C>A (p.Ser369=) c.-888+631G>T (n.-888+631G>T) | |
| 17 | g.4933711C= | CA2244625685 | CHRNE,GP1BA | c.1107C= (p.Ser369=) c.-888+631G= (n.-888+631G=) | |
| 17 | g.4933711C>G | CA497678527 | CHRNE,GP1BA | c.1107C>G (p.Ser369=) c.-888+631G>C (n.-888+631G>C) | |
| 17 | g.4933711C>T | CA497678528 | CHRNE,GP1BA | c.1107C>T (p.Ser369=) c.-888+631G>A (n.-888+631G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933712A= | CA2244625686 | CHRNE,GP1BA | c.1108A= (p.Ile370=) c.-888+630T= (n.-888+630T=) | |
| 17 | g.4933712A>C | CA397320035 | CHRNE,GP1BA | c.1108A>C (p.Ile370Leu) c.-888+630T>G (n.-888+630T>G) | |
| 17 | g.4933712A>G | CA287216936 | CHRNE,GP1BA | c.1108A>G (p.Ile370Val) c.-888+630T>C (n.-888+630T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933712A>T | CA397320039 | CHRNE,GP1BA | c.1108A>T (p.Ile370Phe) c.-888+630T>A (n.-888+630T>A) | |
| 17 | g.4933713T>A | CA397320042 | CHRNE,GP1BA | c.1109T>A (p.Ile370Asn) c.-888+629A>T (n.-888+629A>T) | |
| 17 | g.4933713T>C | CA397320044 | CHRNE,GP1BA | c.1109T>C (p.Ile370Thr) c.-888+629A>G (n.-888+629A>G) | |
| 17 | g.4933713T>G | CA397320047 | CHRNE,GP1BA | c.1109T>G (p.Ile370Ser) c.-888+629A>C (n.-888+629A>C) | |
| 17 | g.4933714C>A | CA497678530 | CHRNE,GP1BA | c.1110C>A (p.Ile370=) c.-888+628G>T (n.-888+628G>T) | |
| 17 | g.4933714C= | CA2244625687 | CHRNE,GP1BA | c.1110C= (p.Ile370=) c.-888+628G= (n.-888+628G=) | |
| 17 | g.4933714C>G | CA397320050 | CHRNE,GP1BA | c.1110C>G (p.Ile370Met) c.-888+628G>C (n.-888+628G>C) | |
| 17 | g.4933714C>T | CA497678531 | CHRNE,GP1BA | c.1110C>T (p.Ile370=) c.-888+628G>A (n.-888+628G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933715A>C | CA397320052 | CHRNE,GP1BA | c.1111A>C (p.Thr371Pro) c.-888+627T>G (n.-888+627T>G) | gnomAD v4 |
| 17 | g.4933715A>G | CA397320054 | CHRNE,GP1BA | c.1111A>G (p.Thr371Ala) c.-888+627T>C (n.-888+627T>C) | |
| 17 | g.4933715A>T | CA397320057 | CHRNE,GP1BA | c.1111A>T (p.Thr371Ser) c.-888+627T>A (n.-888+627T>A) | |
| 17 | g.4933716C>A | CA397320067 | CHRNE,GP1BA | c.1112C>A (p.Thr371Lys) c.-888+626G>T (n.-888+626G>T) | |
| 17 | g.4933716C= | CA2244625688 | CHRNE,GP1BA | c.1112C= (p.Thr371=) c.-888+626G= (n.-888+626G=) | |
| 17 | g.4933716C>G | CA397320065 | CHRNE,GP1BA | c.1112C>G (p.Thr371Arg) c.-888+626G>C (n.-888+626G>C) | |
| 17 | g.4933716C>T | CA397320062 | CHRNE,GP1BA | c.1112C>T (p.Thr371Ile) c.-888+626G>A (n.-888+626G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4933717A= | CA2244625689 | CHRNE,GP1BA | c.1113A= (p.Thr371=) c.-888+625T= (n.-888+625T=) | |
| 17 | g.4933717A>C | CA497678532 | CHRNE,GP1BA | c.1113A>C (p.Thr371=) c.-888+625T>G (n.-888+625T>G) | |
| 17 | g.4933717A>G | CA8314899 | CHRNE,GP1BA | c.1113A>G (p.Thr371=) c.-888+625T>C (n.-888+625T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933717A>T | CA497678534 | CHRNE,GP1BA | c.1113A>T (p.Thr371=) c.-888+625T>A (n.-888+625T>A) | |
| 17 | g.4933718T>A | CA397320069 | CHRNE,GP1BA | c.1114T>A (p.Phe372Ile) c.-888+624A>T (n.-888+624A>T) | |
| 17 | g.4933718T>C | CA397320071 | CHRNE,GP1BA | c.1114T>C (p.Phe372Leu) c.-888+624A>G (n.-888+624A>G) | |
| 17 | g.4933718T>G | CA397320072 | CHRNE,GP1BA | c.1114T>G (p.Phe372Val) c.-888+624A>C (n.-888+624A>C) | |
| 17 | g.4933719T>A | CA397320075 | CHRNE,GP1BA | c.1115T>A (p.Phe372Tyr) c.-888+623A>T (n.-888+623A>T) | |
| 17 | g.4933719T>C | CA397320077 | CHRNE,GP1BA | c.1115T>C (p.Phe372Ser) c.-888+623A>G (n.-888+623A>G) | |
| 17 | g.4933719T>G | CA397320079 | CHRNE,GP1BA | c.1115T>G (p.Phe372Cys) c.-888+623A>C (n.-888+623A>C) | |
| 17 | g.4933720C>A | CA397320081 | CHRNE,GP1BA | c.1116C>A (p.Phe372Leu) c.-888+622G>T (n.-888+622G>T) | |
| 17 | g.4933720C= | CA2244625690 | CHRNE,GP1BA | c.1116C= (p.Phe372=) c.-888+622G= (n.-888+622G=) | |
| 17 | g.4933720C>G | CA397320084 | CHRNE,GP1BA | c.1116C>G (p.Phe372Leu) c.-888+622G>C (n.-888+622G>C) | |
| 17 | g.4933720C>T | CA8314900 | CHRNE,GP1BA | c.1116C>T (p.Phe372=) c.-888+622G>A (n.-888+622G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933721T>A | CA397320087 | CHRNE,GP1BA | c.1117T>A (p.Ser373Thr) c.-888+621A>T (n.-888+621A>T) | |
| 17 | g.4933721T>C | CA397320090 | CHRNE,GP1BA | c.1117T>C (p.Ser373Pro) c.-888+621A>G (n.-888+621A>G) | |
| 17 | g.4933721T>G | CA397320093 | CHRNE,GP1BA | c.1117T>G (p.Ser373Ala) c.-888+621A>C (n.-888+621A>C) | |
| 17 | g.4933722C>A | CA397320106 | CHRNE,GP1BA | c.1118C>A (p.Ser373Tyr) c.-888+620G>T (n.-888+620G>T) | |
| 17 | g.4933722C>G | CA397320108 | CHRNE,GP1BA | c.1118C>G (p.Ser373Cys) c.-888+620G>C (n.-888+620G>C) | |
| 17 | g.4933722C>T | CA397320102 | CHRNE,GP1BA | c.1118C>T (p.Ser373Phe) c.-888+620G>A (n.-888+620G>A) | |
| 17 | g.4933723C>A | CA497678541 | CHRNE,GP1BA | c.1119C>A (p.Ser373=) c.-888+619G>T (n.-888+619G>T) | |
| 17 | g.4933723C>G | CA497678542 | CHRNE,GP1BA | c.1119C>G (p.Ser373=) c.-888+619G>C (n.-888+619G>C) | |
| 17 | g.4933723C>T | CA497678546 | CHRNE,GP1BA | c.1119C>T (p.Ser373=) c.-888+619G>A (n.-888+619G>A) | gnomAD v4 |
| 17 | g.4933724A>C | CA397320112 | CHRNE,GP1BA | c.1120A>C (p.Lys374Gln) c.-888+618T>G (n.-888+618T>G) | |
| 17 | g.4933724A>G | CA397320115 | CHRNE,GP1BA | c.1120A>G (p.Lys374Glu) c.-888+618T>C (n.-888+618T>C) | |
| 17 | g.4933724A>T | CA397320113 | CHRNE,GP1BA | c.1120A>T (p.Lys374Ter) c.-888+618T>A (n.-888+618T>A) | |
| 17 | g.4933725A= | CA2244625691 | CHRNE,GP1BA | c.1121A= (p.Lys374=) c.-888+617T= (n.-888+617T=) | |
| 17 | g.4933725A>C | CA397320117 | CHRNE,GP1BA | c.1121A>C (p.Lys374Thr) c.-888+617T>G (n.-888+617T>G) | |
| 17 | g.4933725A>G | CA397320118 | CHRNE,GP1BA | c.1121A>G (p.Lys374Arg) c.-888+617T>C (n.-888+617T>C) | dbSNP |
| 17 | g.4933725A>T | CA397320120 | CHRNE,GP1BA | c.1121A>T (p.Lys374Ile) c.-888+617T>A (n.-888+617T>A) | |
| 17 | g.4933726A>C | CA397320121 | CHRNE,GP1BA | c.1122A>C (p.Lys374Asn) c.-888+616T>G (n.-888+616T>G) | |
| 17 | g.4933726A>G | CA497677689 | CHRNE,GP1BA | c.1122A>G (p.Lys374=) c.-888+616T>C (n.-888+616T>C) | |
| 17 | g.4933726A>T | CA397320123 | CHRNE,GP1BA | c.1122A>T (p.Lys374Asn) c.-888+616T>A (n.-888+616T>A) | |
| 17 | g.4933727A>C | CA397320126 | CHRNE,GP1BA | c.1123A>C (p.Thr375Pro) c.-888+615T>G (n.-888+615T>G) | |
| 17 | g.4933727A>G | CA397320128 | CHRNE,GP1BA | c.1123A>G (p.Thr375Ala) c.-888+615T>C (n.-888+615T>C) | |
| 17 | g.4933727A>T | CA397320130 | CHRNE,GP1BA | c.1123A>T (p.Thr375Ser) c.-888+615T>A (n.-888+615T>A) | |
| 17 | g.4933728C>A | CA397320133 | CHRNE,GP1BA | c.1124C>A (p.Thr375Asn) c.-888+614G>T (n.-888+614G>T) | |
| 17 | g.4933728C>G | CA397320134 | CHRNE,GP1BA | c.1124C>G (p.Thr375Ser) c.-888+614G>C (n.-888+614G>C) | |
| 17 | g.4933728C>T | CA397320136 | CHRNE,GP1BA | c.1124C>T (p.Thr375Ile) c.-888+614G>A (n.-888+614G>A) | |
| 17 | g.4933729T>A | CA497677690 | CHRNE,GP1BA | c.1125T>A (p.Thr375=) c.-888+613A>T (n.-888+613A>T) | |
| 17 | g.4933729T>C | CA497677691 | CHRNE,GP1BA | c.1125T>C (p.Thr375=) c.-888+613A>G (n.-888+613A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933729T>G | CA497677692 | CHRNE,GP1BA | c.1125T>G (p.Thr375=) c.-888+613A>C (n.-888+613A>C) | |
| 17 | g.4933729T= | CA2244625692 | CHRNE,GP1BA | c.1125T= (p.Thr375=) c.-888+613A= (n.-888+613A=) | |
| 17 | g.4933730C>A | CA397320146 | CHRNE,GP1BA | c.1126C>A (p.Pro376Thr) c.-888+612G>T (n.-888+612G>T) | |
| 17 | g.4933730C= | CA2244625693 | CHRNE,GP1BA | c.1126C= (p.Pro376=) c.-888+612G= (n.-888+612G=) | |
| 17 | g.4933730C>G | CA287216953 | CHRNE,GP1BA | c.1126C>G (p.Pro376Ala) c.-888+612G>C (n.-888+612G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933730C>T | CA397320138 | CHRNE,GP1BA | c.1126C>T (p.Pro376Ser) c.-888+612G>A (n.-888+612G>A) | |
| 17 | g.4933731C>A | CA397320148 | CHRNE,GP1BA | c.1127C>A (p.Pro376Gln) c.-888+611G>T (n.-888+611G>T) | |
| 17 | g.4933731C= | CA2244625694 | CHRNE,GP1BA | c.1127C= (p.Pro376=) c.-888+611G= (n.-888+611G=) | |
| 17 | g.4933731C>G | CA397320150 | CHRNE,GP1BA | c.1127C>G (p.Pro376Arg) c.-888+611G>C (n.-888+611G>C) | |
| 17 | g.4933731C>T | CA8314901 | CHRNE,GP1BA | c.1127C>T (p.Pro376Leu) c.-888+611G>A (n.-888+611G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933732A>C | CA497677693 | CHRNE,GP1BA | c.1128A>C (p.Pro376=) c.-888+610T>G (n.-888+610T>G) | |
| 17 | g.4933732A>G | CA497677694 | CHRNE,GP1BA | c.1128A>G (p.Pro376=) c.-888+610T>C (n.-888+610T>C) | |
| 17 | g.4933732A>T | CA497677695 | CHRNE,GP1BA | c.1128A>T (p.Pro376=) c.-888+610T>A (n.-888+610T>A) | |
| 17 | g.4933733A= | CA2244625695 | CHRNE,GP1BA | c.1129A= (p.Lys377=) c.-888+609T= (n.-888+609T=) | |
| 17 | g.4933733A>C | CA397320154 | CHRNE,GP1BA | c.1129A>C (p.Lys377Gln) c.-888+609T>G (n.-888+609T>G) | |
| 17 | g.4933733A>G | CA8314902 | CHRNE,GP1BA | c.1129A>G (p.Lys377Glu) c.-888+609T>C (n.-888+609T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933733A>T | CA397320158 | CHRNE,GP1BA | c.1129A>T (p.Lys377Ter) c.-888+609T>A (n.-888+609T>A) | |
| 17 | g.4933734A>C | CA397320161 | CHRNE,GP1BA | c.1130A>C (p.Lys377Thr) c.-888+608T>G (n.-888+608T>G) | |
| 17 | g.4933734A>G | CA397320162 | CHRNE,GP1BA | c.1130A>G (p.Lys377Arg) c.-888+608T>C (n.-888+608T>C) | |
| 17 | g.4933734A>T | CA397320164 | CHRNE,GP1BA | c.1130A>T (p.Lys377Ile) c.-888+608T>A (n.-888+608T>A) | |
| 17 | g.4933735A>C | CA397320165 | CHRNE,GP1BA | c.1131A>C (p.Lys377Asn) c.-888+607T>G (n.-888+607T>G) | |
| 17 | g.4933735A>G | CA497677696 | CHRNE,GP1BA | c.1131A>G (p.Lys377=) c.-888+607T>C (n.-888+607T>C) | |
| 17 | g.4933735A>T | CA397320166 | CHRNE,GP1BA | c.1131A>T (p.Lys377Asn) c.-888+607T>A (n.-888+607T>A) | |
| 17 | g.4933736T>A | CA397320170 | CHRNE,GP1BA | c.1132T>A (p.Ser378Thr) c.-888+606A>T (n.-888+606A>T) | |
| 17 | g.4933736T>C | CA397320169 | CHRNE,GP1BA | c.1132T>C (p.Ser378Pro) c.-888+606A>G (n.-888+606A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933736T>G | CA287216958 | CHRNE,GP1BA | c.1132T>G (p.Ser378Ala) c.-888+606A>C (n.-888+606A>C) | dbSNP |
| 17 | g.4933736T= | CA2244625696 | CHRNE,GP1BA | c.1132T= (p.Ser378=) c.-888+606A= (n.-888+606A=) | |
| 17 | g.4933737C>A | CA397320173 | CHRNE,GP1BA | c.1133C>A (p.Ser378Tyr) c.-888+605G>T (n.-888+605G>T) | |
| 17 | g.4933737C>G | CA397320175 | CHRNE,GP1BA | c.1133C>G (p.Ser378Cys) c.-888+605G>C (n.-888+605G>C) | |
| 17 | g.4933737C>T | CA397320178 | CHRNE,GP1BA | c.1133C>T (p.Ser378Phe) c.-888+605G>A (n.-888+605G>A) | ClinVar |
| 17 | g.4933738C>A | CA497677697 | CHRNE,GP1BA | c.1134C>A (p.Ser378=) c.-888+604G>T (n.-888+604G>T) | COSMIC |
| 17 | g.4933738C>G | CA497677698 | CHRNE,GP1BA | c.1134C>G (p.Ser378=) c.-888+604G>C (n.-888+604G>C) | |
| 17 | g.4933738C>T | CA497677699 | CHRNE,GP1BA | c.1134C>T (p.Ser378=) c.-888+604G>A (n.-888+604G>A) | |
| 17 | g.4933739A>C | CA397320181 | CHRNE,GP1BA | c.1135A>C (p.Thr379Pro) c.-888+603T>G (n.-888+603T>G) | |
| 17 | g.4933739A>G | CA397320182 | CHRNE,GP1BA | c.1135A>G (p.Thr379Ala) c.-888+603T>C (n.-888+603T>C) | |
| 17 | g.4933739A>T | CA397320183 | CHRNE,GP1BA | c.1135A>T (p.Thr379Ser) c.-888+603T>A (n.-888+603T>A) | |
| 17 | g.4933740C>A | CA397320186 | CHRNE,GP1BA | c.1136C>A (p.Thr379Asn) c.-888+602G>T (n.-888+602G>T) | |
| 17 | g.4933740C>G | CA397320189 | CHRNE,GP1BA | c.1136C>G (p.Thr379Ser) c.-888+602G>C (n.-888+602G>C) | |
| 17 | g.4933740C>T | CA397320193 | CHRNE,GP1BA | c.1136C>T (p.Thr379Ile) c.-888+602G>A (n.-888+602G>A) | |
| 17 | g.4933741T>A | CA497677700 | CHRNE,GP1BA | c.1137T>A (p.Thr379=) c.-888+601A>T (n.-888+601A>T) | |
| 17 | g.4933741T>C | CA497677701 | CHRNE,GP1BA | c.1137T>C (p.Thr379=) c.-888+601A>G (n.-888+601A>G) | |
| 17 | g.4933741T>G | CA497677702 | CHRNE,GP1BA | c.1137T>G (p.Thr379=) c.-888+601A>C (n.-888+601A>C) | |
| 17 | g.4933742A>C | CA397320197 | CHRNE,GP1BA | c.1138A>C (p.Thr380Pro) c.-888+600T>G (n.-888+600T>G) | |
| 17 | g.4933742A>G | CA397320198 | CHRNE,GP1BA | c.1138A>G (p.Thr380Ala) c.-888+600T>C (n.-888+600T>C) | |
| 17 | g.4933742A>T | CA397320199 | CHRNE,GP1BA | c.1138A>T (p.Thr380Ser) c.-888+600T>A (n.-888+600T>A) | |
| 17 | g.4933743C>A | CA397320208 | CHRNE,GP1BA | c.1139C>A (p.Thr380Asn) c.-888+599G>T (n.-888+599G>T) | |
| 17 | g.4933743C>G | CA397320205 | CHRNE,GP1BA | c.1139C>G (p.Thr380Ser) c.-888+599G>C (n.-888+599G>C) | |
| 17 | g.4933743C>T | CA397320202 | CHRNE,GP1BA | c.1139C>T (p.Thr380Ile) c.-888+599G>A (n.-888+599G>A) | |
| 17 | g.4933744T>A | CA497677704 | CHRNE,GP1BA | c.1140T>A (p.Thr380=) c.-888+598A>T (n.-888+598A>T) | |
| 17 | g.4933744T>C | CA8314903 | CHRNE,GP1BA | c.1140T>C (p.Thr380=) c.-888+598A>G (n.-888+598A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933744T>G | CA497677703 | CHRNE,GP1BA | c.1140T>G (p.Thr380=) c.-888+598A>C (n.-888+598A>C) | |
| 17 | g.4933744T= | CA2244625697 | CHRNE,GP1BA | c.1140T= (p.Thr380=) c.-888+598A= (n.-888+598A=) | |
| 17 | g.4933745G>A | CA397320212 | CHRNE,GP1BA | c.1141G>A (p.Glu381Lys) c.-888+597C>T (n.-888+597C>T) | dbSNP |
| 17 | g.4933745G>C | CA397320215 | CHRNE,GP1BA | c.1141G>C (p.Glu381Gln) c.-888+597C>G (n.-888+597C>G) | |
| 17 | g.4933745G= | CA2244625698 | CHRNE,GP1BA | c.1141G= (p.Glu381=) c.-888+597C= (n.-888+597C=) | |
| 17 | g.4933745G>T | CA397320216 | CHRNE,GP1BA | c.1141G>T (p.Glu381Ter) c.-888+597C>A (n.-888+597C>A) | |
| 17 | g.4933746A>C | CA397320218 | CHRNE,GP1BA | c.1142A>C (p.Glu381Ala) c.-888+596T>G (n.-888+596T>G) | |
| 17 | g.4933746A>G | CA397320220 | CHRNE,GP1BA | c.1142A>G (p.Glu381Gly) c.-888+596T>C (n.-888+596T>C) | |
| 17 | g.4933746A>T | CA397320223 | CHRNE,GP1BA | c.1142A>T (p.Glu381Val) c.-888+596T>A (n.-888+596T>A) | |
| 17 | g.4933747A>C | CA397320226 | CHRNE,GP1BA | c.1143A>C (p.Glu381Asp) c.-888+595T>G (n.-888+595T>G) | |
| 17 | g.4933747A>G | CA497677705 | CHRNE,GP1BA | c.1143A>G (p.Glu381=) c.-888+595T>C (n.-888+595T>C) | gnomAD v4 |
| 17 | g.4933747A>T | CA397320227 | CHRNE,GP1BA | c.1143A>T (p.Glu381Asp) c.-888+595T>A (n.-888+595T>A) | |
| 17 | g.4933748C>A | CA397320229 | CHRNE,GP1BA | c.1144C>A (p.Pro382Thr) c.-888+594G>T (n.-888+594G>T) | |
| 17 | g.4933748C>G | CA397320230 | CHRNE,GP1BA | c.1144C>G (p.Pro382Ala) c.-888+594G>C (n.-888+594G>C) | |
| 17 | g.4933748C>T | CA397320232 | CHRNE,GP1BA | c.1144C>T (p.Pro382Ser) c.-888+594G>A (n.-888+594G>A) | |
| 17 | g.4933749C>A | CA8314905 | CHRNE,GP1BA | c.1145C>A (p.Pro382Gln) c.-888+593G>T (n.-888+593G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933749C= | CA2244625699 | CHRNE,GP1BA | c.1145C= (p.Pro382=) c.-888+593G= (n.-888+593G=) | |
| 17 | g.4933749C>G | CA397320239 | CHRNE,GP1BA | c.1145C>G (p.Pro382Arg) c.-888+593G>C (n.-888+593G>C) | |
| 17 | g.4933749C>T | CA8314904 | CHRNE,GP1BA | c.1145C>T (p.Pro382Leu) c.-888+593G>A (n.-888+593G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933750A>C | CA497677706 | CHRNE,GP1BA | c.1146A>C (p.Pro382=) c.-888+592T>G (n.-888+592T>G) | |
| 17 | g.4933750A>G | CA497677707 | CHRNE,GP1BA | c.1146A>G (p.Pro382=) c.-888+592T>C (n.-888+592T>C) | |
| 17 | g.4933750A>T | CA497677708 | CHRNE,GP1BA | c.1146A>T (p.Pro382=) c.-888+592T>A (n.-888+592T>A) | |
| 17 | g.4933751A= | CA2244625700 | CHRNE,GP1BA | c.1147A= (p.Thr383=) c.-888+591T= (n.-888+591T=) | |
| 17 | g.4933751A>C | CA397320242 | CHRNE,GP1BA | c.1147A>C (p.Thr383Pro) c.-888+591T>G (n.-888+591T>G) | |
| 17 | g.4933751A>G | CA397320244 | CHRNE,GP1BA | c.1147A>G (p.Thr383Ala) c.-888+591T>C (n.-888+591T>C) | dbSNP gnomAD v2 |
| 17 | g.4933751A>T | CA397320246 | CHRNE,GP1BA | c.1147A>T (p.Thr383Ser) c.-888+591T>A (n.-888+591T>A) | |
| 17 | g.4933751_4933934delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG | CA2244625701 | CHRNE,GP1BA | c.1147_1330delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG (p.Thr383=) c.-888+408_-888+591delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGGGT (n.-888+408_-888+591delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGGGT) c.1147_1273-21delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG | |
| 17 | g.4933752C>A | CA8314906 | CHRNE,GP1BA | c.1148C>A (p.Thr383Asn) c.-888+590G>T (n.-888+590G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933752C= | CA2244625702 | CHRNE,GP1BA | c.1148C= (p.Thr383=) c.-888+590G= (n.-888+590G=) | |
| 17 | g.4933752C>G | CA397320251 | CHRNE,GP1BA | c.1148C>G (p.Thr383Ser) c.-888+590G>C (n.-888+590G>C) | |
| 17 | g.4933752C>T | CA397320253 | CHRNE,GP1BA | c.1148C>T (p.Thr383Ile) c.-888+590G>A (n.-888+590G>A) | gnomAD v4 |
| 17 | g.4933756_4933938del | CA980971795 | CHRNE,GP1BA | c.1152_1334del (p.Ser385_Pro445del) c.-888+408_-888+590del (n.-888+408_-888+590del) c.1152_1273-17del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933753C>A | CA497677709 | CHRNE,GP1BA | c.1149C>A (p.Thr383=) c.-888+589G>T (n.-888+589G>T) | |
| 17 | g.4933753C>G | CA497677710 | CHRNE,GP1BA | c.1149C>G (p.Thr383=) c.-888+589G>C (n.-888+589G>C) | |
| 17 | g.4933753C>T | CA497677711 | CHRNE,GP1BA | c.1149C>T (p.Thr383=) c.-888+589G>A (n.-888+589G>A) | gnomAD v3 gnomAD v4 |
| 17 | g.4933753_4933819delinsCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACT | CA2244625703 | CHRNE,GP1BA | c.1149_1215delinsCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACT (p.Thr383=) c.-888+523_-888+589delinsAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGG (n.-888+523_-888+589delinsAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGG) | |
| 17 | g.4933754C>A | CA397320259 | CHRNE,GP1BA | c.1150C>A (p.Pro384Thr) c.-888+588G>T (n.-888+588G>T) | |
| 17 | g.4933754C= | CA2244625704 | CHRNE,GP1BA | c.1150C= (p.Pro384=) c.-888+588G= (n.-888+588G=) | |
| 17 | g.4933754C>G | CA397320258 | CHRNE,GP1BA | c.1150C>G (p.Pro384Ala) c.-888+588G>C (n.-888+588G>C) | |
| 17 | g.4933754C>T | CA397320256 | CHRNE,GP1BA | c.1150C>T (p.Pro384Ser) c.-888+588G>A (n.-888+588G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933769_4933834del | CA624856137 | CHRNE,GP1BA | c.1165_1230del (p.Ser389_Thr410del) c.-888+523_-888+588del (n.-888+523_-888+588del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933755C>A | CA397320262 | CHRNE,GP1BA | c.1151C>A (p.Pro384Gln) c.-888+587G>T (n.-888+587G>T) | |
| 17 | g.4933755C>G | CA397320264 | CHRNE,GP1BA | c.1151C>G (p.Pro384Arg) c.-888+587G>C (n.-888+587G>C) | |
| 17 | g.4933755C>T | CA397320267 | CHRNE,GP1BA | c.1151C>T (p.Pro384Leu) c.-888+587G>A (n.-888+587G>A) | |
| 17 | g.4933756A>C | CA497677712 | CHRNE,GP1BA | c.1152A>C (p.Pro384=) c.-888+586T>G (n.-888+586T>G) | |
| 17 | g.4933756A>G | CA497677713 | CHRNE,GP1BA | c.1152A>G (p.Pro384=) c.-888+586T>C (n.-888+586T>C) | |
| 17 | g.4933756A>T | CA497677714 | CHRNE,GP1BA | c.1152A>T (p.Pro384=) c.-888+586T>A (n.-888+586T>A) | |
| 17 | g.4933757A= | CA2244625705 | CHRNE,GP1BA | c.1153A= (p.Ser385=) c.-888+585T= (n.-888+585T=) | |
| 17 | g.4933757A>C | CA397320269 | CHRNE,GP1BA | c.1153A>C (p.Ser385Arg) c.-888+585T>G (n.-888+585T>G) | |
| 17 | g.4933757A>G | CA8314907 | CHRNE,GP1BA | c.1153A>G (p.Ser385Gly) c.-888+585T>C (n.-888+585T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933757A>T | CA397320271 | CHRNE,GP1BA | c.1153A>T (p.Ser385Cys) c.-888+585T>A (n.-888+585T>A) | |
| 17 | g.4933758G>A | CA397320278 | CHRNE,GP1BA | c.1154G>A (p.Ser385Asn) c.-888+584C>T (n.-888+584C>T) | dbSNP gnomAD v4 |
| 17 | g.4933758G>C | CA397320274 | CHRNE,GP1BA | c.1154G>C (p.Ser385Thr) c.-888+584C>G (n.-888+584C>G) | |
| 17 | g.4933758G= | CA2244625706 | CHRNE,GP1BA | c.1154G= (p.Ser385=) c.-888+584C= (n.-888+584C=) | |
| 17 | g.4933758G>T | CA397320276 | CHRNE,GP1BA | c.1154G>T (p.Ser385Ile) c.-888+584C>A (n.-888+584C>A) | |
| 17 | g.4933759C>A | CA397320279 | CHRNE,GP1BA | c.1155C>A (p.Ser385Arg) c.-888+583G>T (n.-888+583G>T) | |
| 17 | g.4933759C= | CA2244625707 | CHRNE,GP1BA | c.1155C= (p.Ser385=) c.-888+583G= (n.-888+583G=) | |
| 17 | g.4933759C>G | CA8314908 | CHRNE,GP1BA | c.1155C>G (p.Ser385Arg) c.-888+583G>C (n.-888+583G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933759C>T | CA497677715 | CHRNE,GP1BA | c.1155C>T (p.Ser385=) c.-888+583G>A (n.-888+583G>A) | |
| 17 | g.4933760C>A | CA397320283 | CHRNE,GP1BA | c.1156C>A (p.Pro386Thr) c.-888+582G>T (n.-888+582G>T) | |
| 17 | g.4933760C>G | CA397320286 | CHRNE,GP1BA | c.1156C>G (p.Pro386Ala) c.-888+582G>C (n.-888+582G>C) | |
| 17 | g.4933760C>T | CA397320290 | CHRNE,GP1BA | c.1156C>T (p.Pro386Ser) c.-888+582G>A (n.-888+582G>A) | |
| 17 | g.4933761C>A | CA397320294 | CHRNE,GP1BA | c.1157C>A (p.Pro386Gln) c.-888+581G>T (n.-888+581G>T) | |
| 17 | g.4933761C= | CA2244625708 | CHRNE,GP1BA | c.1157C= (p.Pro386=) c.-888+581G= (n.-888+581G=) | |
| 17 | g.4933761C>G | CA8314909 | CHRNE,GP1BA | c.1157C>G (p.Pro386Arg) c.-888+581G>C (n.-888+581G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933761C>T | CA397320299 | CHRNE,GP1BA | c.1157C>T (p.Pro386Leu) c.-888+581G>A (n.-888+581G>A) | dbSNP gnomAD v4 |
| 17 | g.4933762del | CA2635579009 | CHRNE,GP1BA | c.1158del (p.Thr387ProfsTer13) c.-888+580del (n.-888+580del) | gnomAD v4 |
| 17 | g.4933762G>A | CA497677716 | CHRNE,GP1BA | c.1158G>A (p.Pro386=) c.-888+580C>T (n.-888+580C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933762G>C | CA8314910 | CHRNE,GP1BA | c.1158G>C (p.Pro386=) c.-888+580C>G (n.-888+580C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933762G= | CA2244625709 | CHRNE,GP1BA | c.1158G= (p.Pro386=) c.-888+580C= (n.-888+580C=) | |
| 17 | g.4933762G>T | CA8314911 | CHRNE,GP1BA | c.1158G>T (p.Pro386=) c.-888+580C>A (n.-888+580C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933763A>C | CA397320305 | CHRNE,GP1BA | c.1159A>C (p.Thr387Pro) c.-888+579T>G (n.-888+579T>G) | |
| 17 | g.4933763A>G | CA397320307 | CHRNE,GP1BA | c.1159A>G (p.Thr387Ala) c.-888+579T>C (n.-888+579T>C) | |
| 17 | g.4933763A>T | CA397320310 | CHRNE,GP1BA | c.1159A>T (p.Thr387Ser) c.-888+579T>A (n.-888+579T>A) | |
| 17 | g.4933763_4933919delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGC | CA2244625710 | CHRNE,GP1BA | c.1159_1315delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGC (p.Thr387=) c.-888+423_-888+579delinsGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGT (n.-888+423_-888+579delinsGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGT) c.1159_1273-36delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGC | |
| 17 | g.4933764C>A | CA397320316 | CHRNE,GP1BA | c.1160C>A (p.Thr387Asn) c.-888+578G>T (n.-888+578G>T) | |
| 17 | g.4933764C>G | CA397320319 | CHRNE,GP1BA | c.1160C>G (p.Thr387Ser) c.-888+578G>C (n.-888+578G>C) | gnomAD v4 |
| 17 | g.4933764C>T | CA397320317 | CHRNE,GP1BA | c.1160C>T (p.Thr387Ile) c.-888+578G>A (n.-888+578G>A) | gnomAD v4 |
| 17 | g.4933779_4933934del | CA980971820 | CHRNE,GP1BA | c.1175_1330del (p.Val392_Pro443del) c.-888+423_-888+578del (n.-888+423_-888+578del) c.1175_1273-21del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933765C>A | CA497677718 | CHRNE,GP1BA | c.1161C>A (p.Thr387=) c.-888+577G>T (n.-888+577G>T) | |
| 17 | g.4933765C= | CA2244625711 | CHRNE,GP1BA | c.1161C= (p.Thr387=) c.-888+577G= (n.-888+577G=) | |
| 17 | g.4933765C>G | CA497677717 | CHRNE,GP1BA | c.1161C>G (p.Thr387=) c.-888+577G>C (n.-888+577G>C) | |
| 17 | g.4933765C>T | CA8314912 | CHRNE,GP1BA | c.1161C>T (p.Thr387=) c.-888+577G>A (n.-888+577G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933766A>C | CA397320320 | CHRNE,GP1BA | c.1162A>C (p.Thr388Pro) c.-888+576T>G (n.-888+576T>G) | gnomAD v4 |
| 17 | g.4933766A>G | CA397320321 | CHRNE,GP1BA | c.1162A>G (p.Thr388Ala) c.-888+576T>C (n.-888+576T>C) | |
| 17 | g.4933766A>T | CA397320322 | CHRNE,GP1BA | c.1162A>T (p.Thr388Ser) c.-888+576T>A (n.-888+576T>A) | |
| 17 | g.4933767C>A | CA397320323 | CHRNE,GP1BA | c.1163C>A (p.Thr388Asn) c.-888+575G>T (n.-888+575G>T) | |
| 17 | g.4933767C>G | CA397320324 | CHRNE,GP1BA | c.1163C>G (p.Thr388Ser) c.-888+575G>C (n.-888+575G>C) | |
| 17 | g.4933767C>T | CA397320326 | CHRNE,GP1BA | c.1163C>T (p.Thr388Ile) c.-888+575G>A (n.-888+575G>A) | |
| 17 | g.4933768C>A | CA497677721 | CHRNE,GP1BA | c.1164C>A (p.Thr388=) c.-888+574G>T (n.-888+574G>T) | |
| 17 | g.4933768C>G | CA497677720 | CHRNE,GP1BA | c.1164C>G (p.Thr388=) c.-888+574G>C (n.-888+574G>C) | |
| 17 | g.4933768C>T | CA497677719 | CHRNE,GP1BA | c.1164C>T (p.Thr388=) c.-888+574G>A (n.-888+574G>A) | gnomAD v4 |
| 17 | g.4933769T>A | CA8314913 | CHRNE,GP1BA | c.1165T>A (p.Ser389Thr) c.-888+573A>T (n.-888+573A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933769T>C | CA287217014 | CHRNE,GP1BA | c.1165T>C (p.Ser389Pro) c.-888+573A>G (n.-888+573A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933769T>G | CA8314914 | CHRNE,GP1BA | c.1165T>G (p.Ser389Ala) c.-888+573A>C (n.-888+573A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933769T= | CA2244625712 | CHRNE,GP1BA | c.1165T= (p.Ser389=) c.-888+573A= (n.-888+573A=) | |
| 17 | g.4933770C>A | CA397320333 | CHRNE,GP1BA | c.1166C>A (p.Ser389Ter) c.-888+572G>T (n.-888+572G>T) | |
| 17 | g.4933770C>G | CA397320335 | CHRNE,GP1BA | c.1166C>G (p.Ser389Ter) c.-888+572G>C (n.-888+572G>C) | |
| 17 | g.4933770C>T | CA397320337 | CHRNE,GP1BA | c.1166C>T (p.Ser389Leu) c.-888+572G>A (n.-888+572G>A) | |
| 17 | g.4933771A>C | CA497677722 | CHRNE,GP1BA | c.1167A>C (p.Ser389=) c.-888+571T>G (n.-888+571T>G) | |
| 17 | g.4933771A>G | CA497677724 | CHRNE,GP1BA | c.1167A>G (p.Ser389=) c.-888+571T>C (n.-888+571T>C) | |
| 17 | g.4933771A>T | CA497677723 | CHRNE,GP1BA | c.1167A>T (p.Ser389=) c.-888+571T>A (n.-888+571T>A) | |
| 17 | g.4933772G>A | CA397320343 | CHRNE,GP1BA | c.1168G>A (p.Glu390Lys) c.-888+570C>T (n.-888+570C>T) | gnomAD v4 |
| 17 | g.4933772G>C | CA397320338 | CHRNE,GP1BA | c.1168G>C (p.Glu390Gln) c.-888+570C>G (n.-888+570C>G) | |
| 17 | g.4933772G>T | CA397320340 | CHRNE,GP1BA | c.1168G>T (p.Glu390Ter) c.-888+570C>A (n.-888+570C>A) | |
| 17 | g.4933773A>C | CA397320344 | CHRNE,GP1BA | c.1169A>C (p.Glu390Ala) c.-888+569T>G (n.-888+569T>G) | |
| 17 | g.4933773A>G | CA397320345 | CHRNE,GP1BA | c.1169A>G (p.Glu390Gly) c.-888+569T>C (n.-888+569T>C) | |
| 17 | g.4933773A>T | CA397320348 | CHRNE,GP1BA | c.1169A>T (p.Glu390Val) c.-888+569T>A (n.-888+569T>A) | |
| 17 | g.4933774G>A | CA497677725 | CHRNE,GP1BA | c.1170G>A (p.Glu390=) c.-888+568C>T (n.-888+568C>T) | |
| 17 | g.4933774G>C | CA397320351 | CHRNE,GP1BA | c.1170G>C (p.Glu390Asp) c.-888+568C>G (n.-888+568C>G) | |
| 17 | g.4933774G>T | CA397320353 | CHRNE,GP1BA | c.1170G>T (p.Glu390Asp) c.-888+568C>A (n.-888+568C>A) | |
| 17 | g.4933775C>A | CA397320356 | CHRNE,GP1BA | c.1171C>A (p.Pro391Thr) c.-888+567G>T (n.-888+567G>T) | dbSNP gnomAD v4 |
| 17 | g.4933775C= | CA2244625713 | CHRNE,GP1BA | c.1171C= (p.Pro391=) c.-888+567G= (n.-888+567G=) | |
| 17 | g.4933775C>G | CA397320358 | CHRNE,GP1BA | c.1171C>G (p.Pro391Ala) c.-888+567G>C (n.-888+567G>C) | |
| 17 | g.4933775C>T | CA8314915 | CHRNE,GP1BA | c.1171C>T (p.Pro391Ser) c.-888+567G>A (n.-888+567G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933776C>A | CA397320363 | CHRNE,GP1BA | c.1172C>A (p.Pro391His) c.-888+566G>T (n.-888+566G>T) | |
| 17 | g.4933776C>G | CA397320366 | CHRNE,GP1BA | c.1172C>G (p.Pro391Arg) c.-888+566G>C (n.-888+566G>C) | |
| 17 | g.4933776C>T | CA397320368 | CHRNE,GP1BA | c.1172C>T (p.Pro391Leu) c.-888+566G>A (n.-888+566G>A) | gnomAD v4 |
| 17 | g.4933777C>A | CA497677726 | CHRNE,GP1BA | c.1173C>A (p.Pro391=) c.-888+565G>T (n.-888+565G>T) | |
| 17 | g.4933777C= | CA2244625714 | CHRNE,GP1BA | c.1173C= (p.Pro391=) c.-888+565G= (n.-888+565G=) | |
| 17 | g.4933777C>G | CA287217041 | CHRNE,GP1BA | c.1173C>G (p.Pro391=) c.-888+565G>C (n.-888+565G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933777C>T | CA8314916 | CHRNE,GP1BA | c.1173C>T (p.Pro391=) c.-888+565G>A (n.-888+565G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933778G>A | CA287217045 | CHRNE,GP1BA | c.1174G>A (p.Val392Ile) c.-888+564C>T (n.-888+564C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4933778G>C | CA397320376 | CHRNE,GP1BA | c.1174G>C (p.Val392Leu) c.-888+564C>G (n.-888+564C>G) | |
| 17 | g.4933778G= | CA2244625715 | CHRNE,GP1BA | c.1174G= (p.Val392=) c.-888+564C= (n.-888+564C=) | |
| 17 | g.4933778G>T | CA397320374 | CHRNE,GP1BA | c.1174G>T (p.Val392Phe) c.-888+564C>A (n.-888+564C>A) | gnomAD v4 |
| 17 | g.4933779T>A | CA397320378 | CHRNE,GP1BA | c.1175T>A (p.Val392Asp) c.-888+563A>T (n.-888+563A>T) | |
| 17 | g.4933779T>C | CA397320382 | CHRNE,GP1BA | c.1175T>C (p.Val392Ala) c.-888+563A>G (n.-888+563A>G) | gnomAD v3 gnomAD v4 |
| 17 | g.4933779T>G | CA397320380 | CHRNE,GP1BA | c.1175T>G (p.Val392Gly) c.-888+563A>C (n.-888+563A>C) | gnomAD v4 |
| 17 | g.4933780C>A | CA497677727 | CHRNE,GP1BA | c.1176C>A (p.Val392=) c.-888+562G>T (n.-888+562G>T) | |
| 17 | g.4933780C>G | CA497677728 | CHRNE,GP1BA | c.1176C>G (p.Val392=) c.-888+562G>C (n.-888+562G>C) | gnomAD v4 |
| 17 | g.4933780C>T | CA497677729 | CHRNE,GP1BA | c.1176C>T (p.Val392=) c.-888+562G>A (n.-888+562G>A) | gnomAD v4 |
| 17 | g.4933781C>A | CA397320384 | CHRNE,GP1BA | c.1177C>A (p.Pro393Thr) c.-888+561G>T (n.-888+561G>T) | |
| 17 | g.4933781C>G | CA397320385 | CHRNE,GP1BA | c.1177C>G (p.Pro393Ala) c.-888+561G>C (n.-888+561G>C) | |
| 17 | g.4933781C>T | CA397320386 | CHRNE,GP1BA | c.1177C>T (p.Pro393Ser) c.-888+561G>A (n.-888+561G>A) | gnomAD v3 gnomAD v4 |