| 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=) |