| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4932821C>A | CA397315190 | CHRNE,GP1BA | c.217C>A (p.Leu73Ile) c.-888+1521G>T (n.-888+1521G>T) | |
| 17 | g.4932821C= | CA2244625316 | CHRNE,GP1BA | c.217C= (p.Leu73=) c.-888+1521G= (n.-888+1521G=) | |
| 17 | g.4932821C>G | CA397315189 | CHRNE,GP1BA | c.217C>G (p.Leu73Val) c.-888+1521G>C (n.-888+1521G>C) | |
| 17 | g.4932821C>T | CA116660 | CHRNE,GP1BA | c.217C>T (p.Leu73Phe) c.-888+1521G>A (n.-888+1521G>A) | ClinVar dbSNP |
| 17 | g.4932822T>A | CA397315193 | CHRNE,GP1BA | c.218T>A (p.Leu73His) c.-888+1520A>T (n.-888+1520A>T) | |
| 17 | g.4932822T>C | CA397315196 | CHRNE,GP1BA | c.218T>C (p.Leu73Pro) c.-888+1520A>G (n.-888+1520A>G) | |
| 17 | g.4932822T>G | CA397315197 | CHRNE,GP1BA | c.218T>G (p.Leu73Arg) c.-888+1520A>C (n.-888+1520A>C) | COSMIC |
| 17 | g.4932823C>A | CA287215773 | CHRNE,GP1BA | c.219C>A (p.Leu73=) c.-888+1519G>T (n.-888+1519G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932823C= | CA2244625317 | CHRNE,GP1BA | c.219C= (p.Leu73=) c.-888+1519G= (n.-888+1519G=) | |
| 17 | g.4932823C>G | CA497677427 | CHRNE,GP1BA | c.219C>G (p.Leu73=) c.-888+1519G>C (n.-888+1519G>C) | |
| 17 | g.4932823C>T | CA497677425 | CHRNE,GP1BA | c.219C>T (p.Leu73=) c.-888+1519G>A (n.-888+1519G>A) | |
| 17 | g.4932824A>C | CA397315199 | CHRNE,GP1BA | c.220A>C (p.Thr74Pro) c.-888+1518T>G (n.-888+1518T>G) | |
| 17 | g.4932824A>G | CA397315200 | CHRNE,GP1BA | c.220A>G (p.Thr74Ala) c.-888+1518T>C (n.-888+1518T>C) | |
| 17 | g.4932824A>T | CA397315203 | CHRNE,GP1BA | c.220A>T (p.Thr74Ser) c.-888+1518T>A (n.-888+1518T>A) | |
| 17 | g.4932825C>A | CA397315209 | CHRNE,GP1BA | c.221C>A (p.Thr74Asn) c.-888+1517G>T (n.-888+1517G>T) | |
| 17 | g.4932825C= | CA2244625318 | CHRNE,GP1BA | c.221C= (p.Thr74=) c.-888+1517G= (n.-888+1517G=) | |
| 17 | g.4932825C>G | CA397315212 | CHRNE,GP1BA | c.221C>G (p.Thr74Ser) c.-888+1517G>C (n.-888+1517G>C) | |
| 17 | g.4932825C>T | CA397315215 | CHRNE,GP1BA | c.221C>T (p.Thr74Ile) c.-888+1517G>A (n.-888+1517G>A) | dbSNP |
| 17 | g.4932826T>A | CA497677429 | CHRNE,GP1BA | c.222T>A (p.Thr74=) c.-888+1516A>T (n.-888+1516A>T) | |
| 17 | g.4932826T>C | CA497677431 | CHRNE,GP1BA | c.222T>C (p.Thr74=) c.-888+1516A>G (n.-888+1516A>G) | |
| 17 | g.4932826T>G | CA497677433 | CHRNE,GP1BA | c.222T>G (p.Thr74=) c.-888+1516A>C (n.-888+1516A>C) | |
| 17 | g.4932827C>A | CA397315219 | CHRNE,GP1BA | c.223C>A (p.Gln75Lys) c.-888+1515G>T (n.-888+1515G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932827C= | CA2244625319 | CHRNE,GP1BA | c.223C= (p.Gln75=) c.-888+1515G= (n.-888+1515G=) | |
| 17 | g.4932827C>G | CA397315227 | CHRNE,GP1BA | c.223C>G (p.Gln75Glu) c.-888+1515G>C (n.-888+1515G>C) | |
| 17 | g.4932827C>T | CA397315229 | CHRNE,GP1BA | c.223C>T (p.Gln75Ter) c.-888+1515G>A (n.-888+1515G>A) | |
| 17 | g.4932828A>C | CA397315236 | CHRNE,GP1BA | c.224A>C (p.Gln75Pro) c.-888+1514T>G (n.-888+1514T>G) | |
| 17 | g.4932828A>G | CA397315233 | CHRNE,GP1BA | c.224A>G (p.Gln75Arg) c.-888+1514T>C (n.-888+1514T>C) | |
| 17 | g.4932828A>T | CA397315231 | CHRNE,GP1BA | c.224A>T (p.Gln75Leu) c.-888+1514T>A (n.-888+1514T>A) | |
| 17 | g.4932829G>A | CA497677440 | CHRNE,GP1BA | c.225G>A (p.Gln75=) c.-888+1513C>T (n.-888+1513C>T) | gnomAD v4 |
| 17 | g.4932829G>C | CA397315239 | CHRNE,GP1BA | c.225G>C (p.Gln75His) c.-888+1513C>G (n.-888+1513C>G) | dbSNP gnomAD v4 |
| 17 | g.4932829G= | CA2244625320 | CHRNE,GP1BA | c.225G= (p.Gln75=) c.-888+1513C= (n.-888+1513C=) | |
| 17 | g.4932829G>T | CA397315242 | CHRNE,GP1BA | c.225G>T (p.Gln75His) c.-888+1513C>A (n.-888+1513C>A) | |
| 17 | g.4932830C>A | CA397315245 | CHRNE,GP1BA | c.226C>A (p.Leu76Met) c.-888+1512G>T (n.-888+1512G>T) | gnomAD v4 |
| 17 | g.4932830C>G | CA397315248 | CHRNE,GP1BA | c.226C>G (p.Leu76Val) c.-888+1512G>C (n.-888+1512G>C) | |
| 17 | g.4932830C>T | CA497677443 | CHRNE,GP1BA | c.226C>T (p.Leu76=) c.-888+1512G>A (n.-888+1512G>A) | |
| 17 | g.4932831T>A | CA397315251 | CHRNE,GP1BA | c.227T>A (p.Leu76Gln) c.-888+1511A>T (n.-888+1511A>T) | |
| 17 | g.4932831T>C | CA397315254 | CHRNE,GP1BA | c.227T>C (p.Leu76Pro) c.-888+1511A>G (n.-888+1511A>G) | |
| 17 | g.4932831T>G | CA397315256 | CHRNE,GP1BA | c.227T>G (p.Leu76Arg) c.-888+1511A>C (n.-888+1511A>C) | |
| 17 | g.4932832G>A | CA497677449 | CHRNE,GP1BA | c.228G>A (p.Leu76=) c.-888+1510C>T (n.-888+1510C>T) | |
| 17 | g.4932832G>C | CA497677450 | CHRNE,GP1BA | c.228G>C (p.Leu76=) c.-888+1510C>G (n.-888+1510C>G) | |
| 17 | g.4932832G>T | CA497677451 | CHRNE,GP1BA | c.228G>T (p.Leu76=) c.-888+1510C>A (n.-888+1510C>A) | |
| 17 | g.4932833A= | CA2244625321 | CHRNE,GP1BA | c.229A= (p.Asn77=) c.-888+1509T= (n.-888+1509T=) | |
| 17 | g.4932833A>C | CA397315259 | CHRNE,GP1BA | c.229A>C (p.Asn77His) c.-888+1509T>G (n.-888+1509T>G) | |
| 17 | g.4932833A>G | CA287215774 | CHRNE,GP1BA | c.229A>G (p.Asn77Asp) c.-888+1509T>C (n.-888+1509T>C) | dbSNP |
| 17 | g.4932833A>T | CA397315266 | CHRNE,GP1BA | c.229A>T (p.Asn77Tyr) c.-888+1509T>A (n.-888+1509T>A) | |
| 17 | g.4932834A= | CA2244625322 | CHRNE,GP1BA | c.230A= (p.Asn77=) c.-888+1508T= (n.-888+1508T=) | |
| 17 | g.4932834A>C | CA397315270 | CHRNE,GP1BA | c.230A>C (p.Asn77Thr) c.-888+1508T>G (n.-888+1508T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932834A>G | CA397315272 | CHRNE,GP1BA | c.230A>G (p.Asn77Ser) c.-888+1508T>C (n.-888+1508T>C) | |
| 17 | g.4932834A>T | CA397315278 | CHRNE,GP1BA | c.230A>T (p.Asn77Ile) c.-888+1508T>A (n.-888+1508T>A) | |
| 17 | g.4932835C>A | CA397315283 | CHRNE,GP1BA | c.231C>A (p.Asn77Lys) c.-888+1507G>T (n.-888+1507G>T) |