Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94378456_94378504del | CA2695219652 | SERPINA1 | c.1208_1256del (p.Thr403AsnfsTer?) c.1208_1256del (p.Thr403=) c.*507_*555del (n.*507_*555del) | |
14 | g.94378481T>A | CA390847342 | SERPINA1 | c.1225A>T (p.Met409Leu) c.*524A>T (n.*524A>T) | |
14 | g.94378481T>C | CA7327247 | SERPINA1 | c.1225A>G (p.Met409Val) c.*524A>G (n.*524A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378481T>G | CA390847345 | SERPINA1 | c.1225A>C (p.Met409Leu) c.*524A>C (n.*524A>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94378481T= | CA2155953376 | SERPINA1 | c.1225A= (p.Met409=) c.*524A= (n.*524A=) | |
14 | g.94378482G>A | CA487621097 | SERPINA1 | c.1224C>T (p.Phe408=) c.*523C>T (n.*523C>T) | gnomAD v4 |
14 | g.94378482G>C | CA390847349 | SERPINA1 | c.1224C>G (p.Phe408Leu) c.*523C>G (n.*523C>G) | |
14 | g.94378482G>T | CA390847351 | SERPINA1 | c.1224C>A (p.Phe408Leu) c.*523C>A (n.*523C>A) | |
14 | g.94378483A>C | CA390847354 | SERPINA1 | c.1223T>G (p.Phe408Cys) c.*522T>G (n.*522T>G) | |
14 | g.94378483A>G | CA390847357 | SERPINA1 | c.1223T>C (p.Phe408Ser) c.*522T>C (n.*522T>C) | |
14 | g.94378483A>T | CA390847360 | SERPINA1 | c.1223T>A (p.Phe408Tyr) c.*522T>A (n.*522T>A) | |
14 | g.94378484A>C | CA390847363 | SERPINA1 | c.1222T>G (p.Phe408Val) c.*521T>G (n.*521T>G) | |
14 | g.94378484A>G | CA390847365 | SERPINA1 | c.1222T>C (p.Phe408Leu) c.*521T>C (n.*521T>C) | |
14 | g.94378484A>T | CA390847367 | SERPINA1 | c.1222T>A (p.Phe408Ile) c.*521T>A (n.*521T>A) | |
14 | g.94378485G>A | CA7327248 | SERPINA1 | c.1221C>T (p.Leu407=) c.*520C>T (n.*520C>T) | ClinVar dbSNP ExAC gnomAD v2 |
14 | g.94378485G>C | CA487621099 | SERPINA1 | c.1221C>G (p.Leu407=) c.*520C>G (n.*520C>G) | |
14 | g.94378485G= | CA2155953377 | SERPINA1 | c.1221C= (p.Leu407=) c.*520C= (n.*520C=) | |
14 | g.94378485G>T | CA487621098 | SERPINA1 | c.1221C>A (p.Leu407=) c.*520C>A (n.*520C>A) | |
14 | g.94378486A= | CA2155953378 | SERPINA1 | c.1220T= (p.Leu407=) c.*519T= (n.*519T=) | |
14 | g.94378486A>C | CA265860594 | SERPINA1 | c.1220T>G (p.Leu407Arg) c.*519T>G (n.*519T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378486A>G | CA390847374 | SERPINA1 | c.1220T>C (p.Leu407Pro) c.*519T>C (n.*519T>C) | |
14 | g.94378486A>T | CA390847376 | SERPINA1 | c.1220T>A (p.Leu407His) c.*519T>A (n.*519T>A) | |
14 | g.94378487G>A | CA390847378 | SERPINA1 | c.1219C>T (p.Leu407Phe) c.*518C>T (n.*518C>T) | gnomAD v4 |
14 | g.94378487G>C | CA390847380 | SERPINA1 | c.1219C>G (p.Leu407Val) c.*518C>G (n.*518C>G) | dbSNP gnomAD v4 COSMIC |
14 | g.94378487G= | CA2155953379 | SERPINA1 | c.1219C= (p.Leu407=) c.*518C= (n.*518C=) | |
14 | g.94378487G>T | CA390847382 | SERPINA1 | c.1219C>A (p.Leu407Ile) c.*518C>A (n.*518C>A) | |
14 | g.94378490del | CA2626279418 | SERPINA1 | c.1219del (p.Leu407SerfsTer7) c.*518del (n.*518del) | gnomAD v4 |
14 | g.94378488G>A | CA487621100 | SERPINA1 | c.1218C>T (p.Pro406=) c.*517C>T (n.*517C>T) | |
14 | g.94378488G>C | CA487621101 | SERPINA1 | c.1218C>G (p.Pro406=) c.*517C>G (n.*517C>G) | |
14 | g.94378488G>T | CA487621102 | SERPINA1 | c.1218C>A (p.Pro406=) c.*517C>A (n.*517C>A) | gnomAD v4 |
14 | g.94378489G>A | CA390847385 | SERPINA1 | c.1217C>T (p.Pro406Leu) c.*516C>T (n.*516C>T) | dbSNP |
14 | g.94378489G>C | CA390847387 | SERPINA1 | c.1217C>G (p.Pro406Arg) c.*516C>G (n.*516C>G) | |
14 | g.94378489G= | CA2155953380 | SERPINA1 | c.1217C= (p.Pro406=) c.*516C= (n.*516C=) | |
14 | g.94378489G>T | CA390847389 | SERPINA1 | c.1217C>A (p.Pro406His) c.*516C>A (n.*516C>A) | |
14 | g.94378490G>A | CA390847391 | SERPINA1 | c.1216C>T (p.Pro406Ser) c.*515C>T (n.*515C>T) | COSMIC |
14 | g.94378490G>C | CA390847392 | SERPINA1 | c.1216C>G (p.Pro406Ala) c.*515C>G (n.*515C>G) | |
14 | g.94378490G= | CA2155953381 | SERPINA1 | c.1216C= (p.Pro406=) c.*515C= (n.*515C=) | |
14 | g.94378490G>T | CA7327249 | SERPINA1 | c.1216C>A (p.Pro406Thr) c.*515C>A (n.*515C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94378491A>C | CA487621103 | SERPINA1 | c.1215T>G (p.Ser405=) c.*514T>G (n.*514T>G) | |
14 | g.94378491A>G | CA487621104 | SERPINA1 | c.1215T>C (p.Ser405=) c.*514T>C (n.*514T>C) | |
14 | g.94378491A>T | CA487621105 | SERPINA1 | c.1215T>A (p.Ser405=) c.*514T>A (n.*514T>A) | |
14 | g.94378492G>A | CA390847396 | SERPINA1 | c.1214C>T (p.Ser405Phe) c.*513C>T (n.*513C>T) | dbSNP |
14 | g.94378492G>C | CA390847400 | SERPINA1 | c.1214C>G (p.Ser405Cys) c.*513C>G (n.*513C>G) | |
14 | g.94378492G= | CA2155953382 | SERPINA1 | c.1214C= (p.Ser405=) c.*513C= (n.*513C=) | |
14 | g.94378492G>T | CA265860597 | SERPINA1 | c.1214C>A (p.Ser405Tyr) c.*513C>A (n.*513C>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94378493A>C | CA390847403 | SERPINA1 | c.1213T>G (p.Ser405Ala) c.*512T>G (n.*512T>G) | |
14 | g.94378493A>G | CA390847407 | SERPINA1 | c.1213T>C (p.Ser405Pro) c.*512T>C (n.*512T>C) | |
14 | g.94378493A>T | CA390847405 | SERPINA1 | c.1213T>A (p.Ser405Thr) c.*512T>A (n.*512T>A) | |
14 | g.94378494C>A | CA390847408 | SERPINA1 | c.1212G>T (p.Lys404Asn) c.*511G>T (n.*511G>T) | dbSNP |
14 | g.94378494C>G | CA390847409 | SERPINA1 | c.1212G>C (p.Lys404Asn) c.*511G>C (n.*511G>C) | gnomAD v4 |