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 |
|---|---|---|---|---|---|
| 14 | g.94378398T>C | CA2155953330 | SERPINA1 | c.*51A>G (n.*51A>G) c.*607A>G (n.*607A>G) | dbSNP |
| 14 | g.94378398T= | CA2155953329 | SERPINA1 | c.*51A= (n.*51A=) c.*607A= (n.*607A=) | |
| 14 | g.94378399C= | CA2155953331 | SERPINA1 | c.*50G= (n.*50G=) c.*606G= (n.*606G=) | |
| 14 | g.94378399C>G | CA2626279338 | SERPINA1 | c.*50G>C (n.*50G>C) c.*606G>C (n.*606G>C) | gnomAD v4 |
| 14 | g.94378399C>T | CA265860558 | SERPINA1 | c.*50G>A (n.*50G>A) c.*606G>A (n.*606G>A) | dbSNP gnomAD v4 |
| 14 | g.94378400C= | CA2155953332 | SERPINA1 | c.*49G= (n.*49G=) c.*605G= (n.*605G=) | |
| 14 | g.94378400C>G | CA616114929 | SERPINA1 | c.*49G>C (n.*49G>C) c.*605G>C (n.*605G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378400C>T | CA2626279340 | SERPINA1 | c.*49G>A (n.*49G>A) c.*605G>A (n.*605G>A) | gnomAD v4 |
| 14 | g.94378402G= | CA2155953333 | SERPINA1 | c.*47C= (n.*47C=) c.*603C= (n.*603C=) | |
| 14 | g.94378402G>T | CA2155953334 | SERPINA1 | c.*47C>A (n.*47C>A) c.*603C>A (n.*603C>A) | dbSNP |
| 14 | g.94378403G>A | CA2575614204 | SERPINA1 | c.*46C>T (n.*46C>T) c.*602C>T (n.*602C>T) | gnomAD v4 |
| 14 | g.94378403G>T | CA2626279343 | SERPINA1 | c.*46C>A (n.*46C>A) c.*602C>A (n.*602C>A) | gnomAD v4 |
| 14 | g.94378405A= | CA2155953336 | SERPINA1 | c.*44T= (n.*44T=) c.*600T= (n.*600T=) | |
| 14 | g.94378405A>G | CA7327233 | SERPINA1 | c.*44T>C (n.*44T>C) c.*600T>C (n.*600T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378405_94378406delinsAG | CA2155953335 | SERPINA1 | c.*43_*44delinsCT (n.*43_*44delinsCT) c.*599_*600delinsCT (n.*599_*600delinsCT) | |
| 14 | g.94378406G>A | CA7327234 | SERPINA1 | c.*43C>T (n.*43C>T) c.*599C>T (n.*599C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378406G= | CA2155953337 | SERPINA1 | c.*43C= (n.*43C=) c.*599C= (n.*599C=) | |
| 14 | g.94378410dup | CA2802663582 | SERPINA1 | c.*43dup (n.*43dup) c.*599dup (n.*599dup) | |
| 14 | g.94378410del | CA7327232 | SERPINA1 | c.*43del (n.*43del) c.*599del (n.*599del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378407G>A | CA2626279346 | SERPINA1 | c.*42C>T (n.*42C>T) c.*598C>T (n.*598C>T) | gnomAD v4 |
| 14 | g.94378407G= | CA2155953338 | SERPINA1 | c.*42C= (n.*42C=) c.*598C= (n.*598C=) | |
| 14 | g.94378407G>T | CA2155953339 | SERPINA1 | c.*42C>A (n.*42C>A) c.*598C>A (n.*598C>A) | dbSNP gnomAD v4 |
| 14 | g.94378408G>T | CA2626279347 | SERPINA1 | c.*41C>A (n.*41C>A) c.*597C>A (n.*597C>A) | gnomAD v4 |
| 14 | g.94378409G>A | CA2155953340 | SERPINA1 | c.*40C>T (n.*40C>T) c.*596C>T (n.*596C>T) | dbSNP |
| 14 | g.94378409G= | CA2155953342 | SERPINA1 | c.*40C= (n.*40C=) c.*596C= (n.*596C=) | |
| 14 | g.94378409G>T | CA2155953341 | SERPINA1 | c.*40C>A (n.*40C>A) c.*596C>A (n.*596C>A) | dbSNP gnomAD v4 |
| 14 | g.94378410G>A | CA2575614209 | SERPINA1 | c.*39C>T (n.*39C>T) c.*595C>T (n.*595C>T) | gnomAD v4 |
| 14 | g.94378410G>T | CA2626279349 | SERPINA1 | c.*39C>A (n.*39C>A) c.*595C>A (n.*595C>A) | gnomAD v4 |
| 14 | g.94378411C>A | CA2626279351 | SERPINA1 | c.*38G>T (n.*38G>T) c.*594G>T (n.*594G>T) | gnomAD v4 |
| 14 | g.94378411C>T | CA2575614210 | SERPINA1 | c.*38G>A (n.*38G>A) c.*594G>A (n.*594G>A) | gnomAD v4 |
| 14 | g.94378413A>G | CA2626279352 | SERPINA1 | c.*36T>C (n.*36T>C) c.*592T>C (n.*592T>C) | gnomAD v4 |
| 14 | g.94378414G>A | CA7327235 | SERPINA1 | c.*35C>T (n.*35C>T) c.*591C>T (n.*591C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378414G= | CA2155953343 | SERPINA1 | c.*35C= (n.*35C=) c.*591C= (n.*591C=) | |
| 14 | g.94378414G>T | CA2626279353 | SERPINA1 | c.*35C>A (n.*35C>A) c.*591C>A (n.*591C>A) | gnomAD v4 |
| 14 | g.94378415G>A | CA7327236 | SERPINA1 | c.*34C>T (n.*34C>T) c.*590C>T (n.*590C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378415G>C | CA2626279357 | SERPINA1 | c.*34C>G (n.*34C>G) c.*590C>G (n.*590C>G) | gnomAD v4 |
| 14 | g.94378415G= | CA2155953344 | SERPINA1 | c.*34C= (n.*34C=) c.*590C= (n.*590C=) | |
| 14 | g.94378415G>T | CA2626279355 | SERPINA1 | c.*34C>A (n.*34C>A) c.*590C>A (n.*590C>A) | gnomAD v4 |
| 14 | g.94378416G>A | CA2155953346 | SERPINA1 | c.*33C>T (n.*33C>T) c.*589C>T (n.*589C>T) | dbSNP |
| 14 | g.94378416G= | CA2155953345 | SERPINA1 | c.*33C= (n.*33C=) c.*589C= (n.*589C=) | |
| 14 | g.94378416G>T | CA2575614211 | SERPINA1 | c.*33C>A (n.*33C>A) c.*589C>A (n.*589C>A) | gnomAD v4 |
| 14 | g.94378417A>T | CA2626279360 | SERPINA1 | c.*32T>A (n.*32T>A) c.*588T>A (n.*588T>A) | gnomAD v4 |
| 14 | g.94378418T>C | CA2575614212 | SERPINA1 | c.*31A>G (n.*31A>G) c.*587A>G (n.*587A>G) | gnomAD v4 |
| 14 | g.94378418T>G | CA2626279361 | SERPINA1 | c.*31A>C (n.*31A>C) c.*587A>C (n.*587A>C) | gnomAD v4 |
| 14 | g.94378419G>A | CA265860564 | SERPINA1 | c.*30C>T (n.*30C>T) c.*586C>T (n.*586C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378419G= | CA2155953347 | SERPINA1 | c.*30C= (n.*30C=) c.*586C= (n.*586C=) | |
| 14 | g.94378419G>T | CA2626279363 | SERPINA1 | c.*30C>A (n.*30C>A) c.*586C>A (n.*586C>A) | gnomAD v4 |
| 14 | g.94378426_94378430del | CA2626279362 | SERPINA1 | c.*26_*30del (n.*26_*30del) c.*582_*586del (n.*582_*586del) | gnomAD v4 |
| 14 | g.94378420G>T | CA2626279364 | SERPINA1 | c.*29C>A (n.*29C>A) c.*585C>A (n.*585C>A) | gnomAD v4 |
| 14 | g.94378422G>A | CA616114950 | SERPINA1 | c.*27C>T (n.*27C>T) c.*583C>T (n.*583C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378422G= | CA2155953348 | SERPINA1 | c.*27C= (n.*27C=) c.*583C= (n.*583C=) | |
| 14 | g.94378424G>A | CA2626279367 | SERPINA1 | c.*25C>T (n.*25C>T) c.*581C>T (n.*581C>T) | gnomAD v4 |
| 14 | g.94378426A>G | CA2802663584 | SERPINA1 | c.*23T>C (n.*23T>C) c.*579T>C (n.*579T>C) | |
| 14 | g.94378428G>A | CA2575614213 | SERPINA1 | c.*21C>T (n.*21C>T) c.*577C>T (n.*577C>T) | |
| 14 | g.94378428G= | CA2155953349 | SERPINA1 | c.*21C= (n.*21C=) c.*577C= (n.*577C=) | |
| 14 | g.94378428G>T | CA7327237 | SERPINA1 | c.*21C>A (n.*21C>A) c.*577C>A (n.*577C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378429G>A | CA2575614214 | SERPINA1 | c.*20C>T (n.*20C>T) c.*576C>T (n.*576C>T) | |
| 14 | g.94378429G>T | CA2626279371 | SERPINA1 | c.*20C>A (n.*20C>A) c.*576C>A (n.*576C>A) | gnomAD v4 |
| 14 | g.94378430G>A | CA7327238 | SERPINA1 | c.*19C>T (n.*19C>T) c.*575C>T (n.*575C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378430G= | CA2155953350 | SERPINA1 | c.*19C= (n.*19C=) c.*575C= (n.*575C=) | |
| 14 | g.94378430G>T | CA2626279372 | SERPINA1 | c.*19C>A (n.*19C>A) c.*575C>A (n.*575C>A) | gnomAD v4 |
| 14 | g.94378431T>C | CA7327239 | SERPINA1 | c.*18A>G (n.*18A>G) c.*574A>G (n.*574A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378431T= | CA2155953351 | SERPINA1 | c.*18A= (n.*18A=) c.*574A= (n.*574A=) | |
| 14 | g.94378433G>A | CA2626279376 | SERPINA1 | c.*16C>T (n.*16C>T) c.*572C>T (n.*572C>T) | gnomAD v4 |
| 14 | g.94378434A>G | CA2802663586 | SERPINA1 | c.*15T>C (n.*15T>C) c.*571T>C (n.*571T>C) | |
| 14 | g.94378434_94378444delinsAGGAGCGAGAG | CA2155953352 | SERPINA1 | c.*5_*15delinsCTCTCGCTCCT (n.*5_*15delinsCTCTCGCTCCT) c.*561_*571delinsCTCTCGCTCCT (n.*561_*571delinsCTCTCGCTCCT) | |
| 14 | g.94378435G>A | CA7327240 | SERPINA1 | c.*14C>T (n.*14C>T) c.*570C>T (n.*570C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378435G= | CA2155953353 | SERPINA1 | c.*14C= (n.*14C=) c.*570C= (n.*570C=) | |
| 14 | g.94378436_94378445del | CA245914 | SERPINA1 | c.*5_*14del (n.*5_*14del) c.*561_*570del (n.*561_*570del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378438G>A | CA2730051561 | SERPINA1 | c.*11C>T (n.*11C>T) c.*567C>T (n.*567C>T) | dbSNP |
| 14 | g.94378439C= | CA2155953354 | SERPINA1 | c.*10G= (n.*10G=) c.*566G= (n.*566G=) | |
| 14 | g.94378439C>G | CA616114960 | SERPINA1 | c.*10G>C (n.*10G>C) c.*566G>C (n.*566G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378439C>T | CA7327241 | SERPINA1 | c.*10G>A (n.*10G>A) c.*566G>A (n.*566G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378440G>A | CA7327242 | SERPINA1 | c.*9C>T (n.*9C>T) c.*565C>T (n.*565C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378440G= | CA2155953355 | SERPINA1 | c.*9C= (n.*9C=) c.*565C= (n.*565C=) | |
| 14 | g.94378440G>T | CA2626279386 | SERPINA1 | c.*9C>A (n.*9C>A) c.*565C>A (n.*565C>A) | gnomAD v4 |
| 14 | g.94378443_94378444dup | CA2626279388 | SERPINA1 | c.*8_*9dup (n.*8_*9dup) c.*564_*565dup (n.*564_*565dup) | gnomAD v4 |
| 14 | g.94378442G>A | CA265860574 | SERPINA1 | c.*7C>T (n.*7C>T) c.*563C>T (n.*563C>T) | dbSNP |
| 14 | g.94378442G>C | CA265860577 | SERPINA1 | c.*7C>G (n.*7C>G) c.*563C>G (n.*563C>G) | dbSNP |
| 14 | g.94378442G= | CA2155953356 | SERPINA1 | c.*7C= (n.*7C=) c.*563C= (n.*563C=) | |
| 14 | g.94378443A>G | CA2626279390 | SERPINA1 | c.*6T>C (n.*6T>C) c.*562T>C (n.*562T>C) | gnomAD v4 |
| 14 | g.94378444G>A | CA616114963 | SERPINA1 | c.*5C>T (n.*5C>T) c.*561C>T (n.*561C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378444G>C | CA2626279391 | SERPINA1 | c.*5C>G (n.*5C>G) c.*561C>G (n.*561C>G) | gnomAD v4 |
| 14 | g.94378444G= | CA2155953357 | SERPINA1 | c.*5C= (n.*5C=) c.*561C= (n.*561C=) | |
| 14 | g.94378445G>A | CA265860579 | SERPINA1 | c.*4C>T (n.*4C>T) c.*560C>T (n.*560C>T) | dbSNP gnomAD v4 |
| 14 | g.94378445G= | CA2155953358 | SERPINA1 | c.*4C= (n.*4C=) c.*560C= (n.*560C=) | |
| 14 | g.94378445G>T | CA616114965 | SERPINA1 | c.*4C>A (n.*4C>A) c.*560C>A (n.*560C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378445_94378446del | CA2802663588 | SERPINA1 | c.*3_*4del (n.*3_*4del) c.*559_*560del (n.*559_*560del) | |
| 14 | g.94378446C>A | CA265860581 | SERPINA1 | c.*3G>T (n.*3G>T) c.*559G>T (n.*559G>T) | dbSNP |
| 14 | g.94378446C= | CA2155953359 | SERPINA1 | c.*3G= (n.*3G=) c.*559G= (n.*559G=) | |
| 14 | g.94378447A= | CA2155953360 | SERPINA1 | c.*2T= (n.*2T=) c.*558T= (n.*558T=) | |
| 14 | g.94378447A>C | CA2626279394 | SERPINA1 | c.*2T>G (n.*2T>G) c.*558T>G (n.*558T>G) | gnomAD v4 |
| 14 | g.94378447A>T | CA2155953361 | SERPINA1 | c.*2T>A (n.*2T>A) c.*558T>A (n.*558T>A) | dbSNP |
| 14 | g.94378448G>A | CA7327243 | SERPINA1 | c.*1C>T (n.*1C>T) c.*557C>T (n.*557C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378448G>C | CA710093174 | SERPINA1 | c.*1C>G (n.*1C>G) c.*557C>G (n.*557C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378448G= | CA2155953362 | SERPINA1 | c.*1C= (n.*1C=) c.*557C= (n.*557C=) | |
| 14 | g.94378449T>A | CA390847266 | SERPINA1 | c.1257A>T (p.Ter419Tyr) c.*556A>T (n.*556A>T) | |
| 14 | g.94378449T>C | CA487621063 | SERPINA1 | c.1257A>G (p.Ter419=) c.*556A>G (n.*556A>G) | |
| 14 | g.94378449T>G | CA390847267 | SERPINA1 | c.1257A>C (p.Ter419Tyr) c.*556A>C (n.*556A>C) | |
| 14 | g.94378450T>A | CA390847268 | SERPINA1 | c.1256A>T (p.Ter419Leu) c.*555A>T (n.*555A>T) | |
| 14 | g.94378450T>C | CA7327244 | SERPINA1 | c.1256A>G (p.Ter419=) c.*555A>G (n.*555A>G) | dbSNP ExAC |
| 14 | g.94378450T>G | CA390847269 | SERPINA1 | c.1256A>C (p.Ter419Ser) c.*555A>C (n.*555A>C) | |
| 14 | g.94378450T= | CA2155953363 | SERPINA1 | c.1256A= (p.Ter419=) c.*555A= (n.*555A=) | |
| 14 | g.94378456_94378504del | CA2695219652 | SERPINA1 | c.1208_1256del (p.Thr403AsnfsTer?) c.1208_1256del (p.Thr403=) c.*507_*555del (n.*507_*555del) | |
| 14 | g.94378451A>C | CA390847270 | SERPINA1 | c.1255T>G (p.Ter419Glu) c.*554T>G (n.*554T>G) | |
| 14 | g.94378451A>G | CA390847271 | SERPINA1 | c.1255T>C (p.Ter419Gln) c.*554T>C (n.*554T>C) | |
| 14 | g.94378451A>T | CA390847272 | SERPINA1 | c.1255T>A (p.Ter419Lys) c.*554T>A (n.*554T>A) | |
| 14 | g.94378452T>A | CA390847273 | SERPINA1 | c.1254A>T (p.Lys418Asn) c.*553A>T (n.*553A>T) | |
| 14 | g.94378452T>C | CA487621066 | SERPINA1 | c.1254A>G (p.Lys418=) c.*553A>G (n.*553A>G) | |
| 14 | g.94378452T>G | CA390847274 | SERPINA1 | c.1254A>C (p.Lys418Asn) c.*553A>C (n.*553A>C) | |
| 14 | g.94378453T>A | CA390847275 | SERPINA1 | c.1253A>T (p.Lys418Ile) c.*552A>T (n.*552A>T) | dbSNP gnomAD v4 |
| 14 | g.94378453T>C | CA390847276 | SERPINA1 | c.1253A>G (p.Lys418Arg) c.*552A>G (n.*552A>G) | |
| 14 | g.94378453T>G | CA390847277 | SERPINA1 | c.1253A>C (p.Lys418Thr) c.*552A>C (n.*552A>C) | |
| 14 | g.94378453T= | CA2155953364 | SERPINA1 | c.1253A= (p.Lys418=) c.*552A= (n.*552A=) | |
| 14 | g.94378454T>A | CA390847278 | SERPINA1 | c.1252A>T (p.Lys418Ter) c.*551A>T (n.*551A>T) | gnomAD v4 |
| 14 | g.94378454T>C | CA390847279 | SERPINA1 | c.1252A>G (p.Lys418Glu) c.*551A>G (n.*551A>G) | |
| 14 | g.94378454T>G | CA390847280 | SERPINA1 | c.1252A>C (p.Lys418Gln) c.*551A>C (n.*551A>C) | |
| 14 | g.94378455T>A | CA390847282 | SERPINA1 | c.1251A>T (p.Gln417His) c.*550A>T (n.*550A>T) | |
| 14 | g.94378455T>C | CA265860585 | SERPINA1 | c.1251A>G (p.Gln417=) c.*550A>G (n.*550A>G) | dbSNP |
| 14 | g.94378455T>G | CA390847281 | SERPINA1 | c.1251A>C (p.Gln417His) c.*550A>C (n.*550A>C) | |
| 14 | g.94378455T= | CA2155953365 | SERPINA1 | c.1251A= (p.Gln417=) c.*550A= (n.*550A=) | |
| 14 | g.94378456T>A | CA7327245 | SERPINA1 | c.1250A>T (p.Gln417Leu) c.*549A>T (n.*549A>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 14 | g.94378456T>C | CA390847283 | SERPINA1 | c.1250A>G (p.Gln417Arg) c.*549A>G (n.*549A>G) | |
| 14 | g.94378456T>G | CA390847284 | SERPINA1 | c.1250A>C (p.Gln417Pro) c.*549A>C (n.*549A>C) | gnomAD v4 |
| 14 | g.94378456T= | CA2155953366 | SERPINA1 | c.1250A= (p.Gln417=) c.*549A= (n.*549A=) | |
| 14 | g.94378457G>A | CA390847285 | SERPINA1 | c.1249C>T (p.Gln417Ter) c.*548C>T (n.*548C>T) | |
| 14 | g.94378457G>C | CA390847286 | SERPINA1 | c.1249C>G (p.Gln417Glu) c.*548C>G (n.*548C>G) | |
| 14 | g.94378457G= | CA2155953367 | SERPINA1 | c.1249C= (p.Gln417=) c.*548C= (n.*548C=) | |
| 14 | g.94378457G>T | CA390847287 | SERPINA1 | c.1249C>A (p.Gln417Lys) c.*548C>A (n.*548C>A) | dbSNP gnomAD v4 |
| 14 | g.94378458G>A | CA487621072 | SERPINA1 | c.1248C>T (p.Thr416=) c.*547C>T (n.*547C>T) | dbSNP gnomAD v4 |
| 14 | g.94378458G>C | CA487621073 | SERPINA1 | c.1248C>G (p.Thr416=) c.*547C>G (n.*547C>G) | |
| 14 | g.94378458G= | CA2155953368 | SERPINA1 | c.1248C= (p.Thr416=) c.*547C= (n.*547C=) | |
| 14 | g.94378458G>T | CA487621074 | SERPINA1 | c.1248C>A (p.Thr416=) c.*547C>A (n.*547C>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94378459G>A | CA390847288 | SERPINA1 | c.1247C>T (p.Thr416Ile) c.*546C>T (n.*546C>T) | |
| 14 | g.94378459G>C | CA390847290 | SERPINA1 | c.1247C>G (p.Thr416Ser) c.*546C>G (n.*546C>G) | |
| 14 | g.94378459G>T | CA390847289 | SERPINA1 | c.1247C>A (p.Thr416Asn) c.*546C>A (n.*546C>A) | |
| 14 | g.94378460T>A | CA390847291 | SERPINA1 | c.1246A>T (p.Thr416Ser) c.*545A>T (n.*545A>T) | |
| 14 | g.94378460T>C | CA390847292 | SERPINA1 | c.1246A>G (p.Thr416Ala) c.*545A>G (n.*545A>G) | |
| 14 | g.94378460T>G | CA265860588 | SERPINA1 | c.1246A>C (p.Thr416Pro) c.*545A>C (n.*545A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378460T= | CA2155953369 | SERPINA1 | c.1246A= (p.Thr416=) c.*545A= (n.*545A=) | |
| 14 | g.94378460_94378461delinsTG | CA2155953370 | SERPINA1 | c.1245_1246delinsCA (p.Pro415=) c.*544_*545delinsCA (n.*544_*545delinsCA) | |
| 14 | g.94378461G>A | CA487621077 | SERPINA1 | c.1245C>T (p.Pro415=) c.*544C>T (n.*544C>T) | gnomAD v4 |
| 14 | g.94378461G>C | CA487621078 | SERPINA1 | c.1245C>G (p.Pro415=) c.*544C>G (n.*544C>G) | |
| 14 | g.94378461G>T | CA487621079 | SERPINA1 | c.1245C>A (p.Pro415=) c.*544C>A (n.*544C>A) | |
| 14 | g.94378463del | CA616114970 | SERPINA1 | c.1245del (p.Thr416ProfsTer?) c.*544del (n.*544del) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378462G>A | CA390847293 | SERPINA1 | c.1244C>T (p.Pro415Leu) c.*543C>T (n.*543C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94378462G>C | CA390847294 | SERPINA1 | c.1244C>G (p.Pro415Arg) c.*543C>G (n.*543C>G) | |
| 14 | g.94378462G>T | CA390847295 | SERPINA1 | c.1244C>A (p.Pro415His) c.*543C>A (n.*543C>A) | |
| 14 | g.94378463G>A | CA390847296 | SERPINA1 | c.1243C>T (p.Pro415Ser) c.*542C>T (n.*542C>T) | |
| 14 | g.94378463G>C | CA390847297 | SERPINA1 | c.1243C>G (p.Pro415Ala) c.*542C>G (n.*542C>G) | |
| 14 | g.94378463G>T | CA390847298 | SERPINA1 | c.1243C>A (p.Pro415Thr) c.*542C>A (n.*542C>A) | |
| 14 | g.94378464A>C | CA390847299 | SERPINA1 | c.1242T>G (p.Asn414Lys) c.*541T>G (n.*541T>G) | |
| 14 | g.94378464A>G | CA487621083 | SERPINA1 | c.1242T>C (p.Asn414=) c.*541T>C (n.*541T>C) | |
| 14 | g.94378464A>T | CA390847300 | SERPINA1 | c.1242T>A (p.Asn414Lys) c.*541T>A (n.*541T>A) | |
| 14 | g.94378465T>A | CA390847301 | SERPINA1 | c.1241A>T (p.Asn414Ile) c.*540A>T (n.*540A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378465T>C | CA390847303 | SERPINA1 | c.1241A>G (p.Asn414Ser) c.*540A>G (n.*540A>G) | |
| 14 | g.94378465T>G | CA390847302 | SERPINA1 | c.1241A>C (p.Asn414Thr) c.*540A>C (n.*540A>C) | |
| 14 | g.94378465T= | CA2155953371 | SERPINA1 | c.1241A= (p.Asn414=) c.*540A= (n.*540A=) | |
| 14 | g.94378466T>A | CA390847304 | SERPINA1 | c.1240A>T (p.Asn414Tyr) c.*539A>T (n.*539A>T) | |
| 14 | g.94378466T>C | CA390847305 | SERPINA1 | c.1240A>G (p.Asn414Asp) c.*539A>G (n.*539A>G) | |
| 14 | g.94378466T>G | CA390847306 | SERPINA1 | c.1240A>C (p.Asn414His) c.*539A>C (n.*539A>C) | |
| 14 | g.94378466_94378469delinsTCAC | CA2155953372 | SERPINA1 | c.1237_1240delinsGTGA (p.Val413=) c.*536_*539delinsGTGA (n.*536_*539delinsGTGA) | |
| 14 | g.94378467C>A | CA487621084 | SERPINA1 | c.1239G>T (p.Val413=) c.*538G>T (n.*538G>T) | |
| 14 | g.94378467C>G | CA487621086 | SERPINA1 | c.1239G>C (p.Val413=) c.*538G>C (n.*538G>C) | |
| 14 | g.94378467C>T | CA487621087 | SERPINA1 | c.1239G>A (p.Val413=) c.*538G>A (n.*538G>A) | COSMIC |
| 14 | g.94378470_94378472del | CA7327246 | SERPINA1 | c.1237_1239del (p.Val413del) c.*536_*538del (n.*536_*538del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378468A>C | CA390847307 | SERPINA1 | c.1238T>G (p.Val413Gly) c.*537T>G (n.*537T>G) | |
| 14 | g.94378468A>G | CA390847308 | SERPINA1 | c.1238T>C (p.Val413Ala) c.*537T>C (n.*537T>C) | |
| 14 | g.94378468A>T | CA390847309 | SERPINA1 | c.1238T>A (p.Val413Glu) c.*537T>A (n.*537T>A) | |
| 14 | g.94378469C>A | CA390847310 | SERPINA1 | c.1237G>T (p.Val413Leu) c.*536G>T (n.*536G>T) | gnomAD v4 |
| 14 | g.94378469C= | CA2155953373 | SERPINA1 | c.1237G= (p.Val413=) c.*536G= (n.*536G=) | |
| 14 | g.94378469C>G | CA390847311 | SERPINA1 | c.1237G>C (p.Val413Leu) c.*536G>C (n.*536G>C) | dbSNP gnomAD v4 |
| 14 | g.94378469C>T | CA390847312 | SERPINA1 | c.1237G>A (p.Val413Met) c.*536G>A (n.*536G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378470C>A | CA487621088 | SERPINA1 | c.1236G>T (p.Val412=) c.*535G>T (n.*535G>T) | |
| 14 | g.94378470C>G | CA487621090 | SERPINA1 | c.1236G>C (p.Val412=) c.*535G>C (n.*535G>C) | |
| 14 | g.94378470C>T | CA487621091 | SERPINA1 | c.1236G>A (p.Val412=) c.*535G>A (n.*535G>A) | |
| 14 | g.94378471A>C | CA390847313 | SERPINA1 | c.1235T>G (p.Val412Gly) c.*534T>G (n.*534T>G) | |
| 14 | g.94378471A>G | CA390847314 | SERPINA1 | c.1235T>C (p.Val412Ala) c.*534T>C (n.*534T>C) | |
| 14 | g.94378471A>T | CA390847315 | SERPINA1 | c.1235T>A (p.Val412Glu) c.*534T>A (n.*534T>A) | |
| 14 | g.94378472C>A | CA390847318 | SERPINA1 | c.1234G>T (p.Val412Leu) c.*533G>T (n.*533G>T) | |
| 14 | g.94378472C>G | CA390847317 | SERPINA1 | c.1234G>C (p.Val412Leu) c.*533G>C (n.*533G>C) | |
| 14 | g.94378472C>T | CA390847316 | SERPINA1 | c.1234G>A (p.Val412Met) c.*533G>A (n.*533G>A) | |
| 14 | g.94378473T>A | CA390847319 | SERPINA1 | c.1233A>T (p.Lys411Asn) c.*532A>T (n.*532A>T) | |
| 14 | g.94378473T>C | CA487621093 | SERPINA1 | c.1233A>G (p.Lys411=) c.*532A>G (n.*532A>G) | |
| 14 | g.94378473T>G | CA390847320 | SERPINA1 | c.1233A>C (p.Lys411Asn) c.*532A>C (n.*532A>C) | |
| 14 | g.94378474T>A | CA390847321 | SERPINA1 | c.1232A>T (p.Lys411Ile) c.*531A>T (n.*531A>T) | |
| 14 | g.94378474T>C | CA390847322 | SERPINA1 | c.1232A>G (p.Lys411Arg) c.*531A>G (n.*531A>G) | |
| 14 | g.94378474T>G | CA390847323 | SERPINA1 | c.1232A>C (p.Lys411Thr) c.*531A>C (n.*531A>C) | |
| 14 | g.94378475T>A | CA390847324 | SERPINA1 | c.1231A>T (p.Lys411Ter) c.*530A>T (n.*530A>T) | |
| 14 | g.94378475T>C | CA390847325 | SERPINA1 | c.1231A>G (p.Lys411Glu) c.*530A>G (n.*530A>G) | |
| 14 | g.94378475T>G | CA390847326 | SERPINA1 | c.1231A>C (p.Lys411Gln) c.*530A>C (n.*530A>C) | |
| 14 | g.94378476T>A | CA487621094 | SERPINA1 | c.1230A>T (p.Gly410=) c.*529A>T (n.*529A>T) | |
| 14 | g.94378476T>C | CA487621096 | SERPINA1 | c.1230A>G (p.Gly410=) c.*529A>G (n.*529A>G) | |
| 14 | g.94378476T>G | CA487621095 | SERPINA1 | c.1230A>C (p.Gly410=) c.*529A>C (n.*529A>C) | |
| 14 | g.94378477C>A | CA390847327 | SERPINA1 | c.1229G>T (p.Gly410Val) c.*528G>T (n.*528G>T) | |
| 14 | g.94378477C= | CA2155953374 | SERPINA1 | c.1229G= (p.Gly410=) c.*528G= (n.*528G=) | |
| 14 | g.94378477C>G | CA390847328 | SERPINA1 | c.1229G>C (p.Gly410Ala) c.*528G>C (n.*528G>C) | |
| 14 | g.94378477C>T | CA390847329 | SERPINA1 | c.1229G>A (p.Gly410Glu) c.*528G>A (n.*528G>A) | dbSNP COSMIC |
| 14 | g.94378478C>A | CA390847330 | SERPINA1 | c.1228G>T (p.Gly410Ter) c.*527G>T (n.*527G>T) | |
| 14 | g.94378478C>G | CA390847331 | SERPINA1 | c.1228G>C (p.Gly410Arg) c.*527G>C (n.*527G>C) | |
| 14 | g.94378478C>T | CA390847332 | SERPINA1 | c.1228G>A (p.Gly410Arg) c.*527G>A (n.*527G>A) | COSMIC |
| 14 | g.94378479C>A | CA390847334 | SERPINA1 | c.1227G>T (p.Met409Ile) c.*526G>T (n.*526G>T) | |
| 14 | g.94378479C>G | CA390847335 | SERPINA1 | c.1227G>C (p.Met409Ile) c.*526G>C (n.*526G>C) | |
| 14 | g.94378479C>T | CA390847333 | SERPINA1 | c.1227G>A (p.Met409Ile) c.*526G>A (n.*526G>A) | |
| 14 | g.94378480A= | CA2155953375 | SERPINA1 | c.1226T= (p.Met409=) c.*525T= (n.*525T=) | |
| 14 | g.94378480A>C | CA390847336 | SERPINA1 | c.1226T>G (p.Met409Arg) c.*525T>G (n.*525T>G) | |
| 14 | g.94378480A>G | CA390847337 | SERPINA1 | c.1226T>C (p.Met409Thr) c.*525T>C (n.*525T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378480A>T | CA390847339 | SERPINA1 | c.1226T>A (p.Met409Lys) c.*525T>A (n.*525T>A) | |
| 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 |
| 14 | g.94378494C>T | CA487621106 | SERPINA1 | c.1212G>A (p.Lys404=) c.*511G>A (n.*511G>A) | |
| 14 | g.94378495T>A | CA390847411 | SERPINA1 | c.1211A>T (p.Lys404Met) c.*510A>T (n.*510A>T) | |
| 14 | g.94378495T>C | CA7327250 | SERPINA1 | c.1211A>G (p.Lys404Arg) c.*510A>G (n.*510A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378495T>G | CA265860599 | SERPINA1 | c.1211A>C (p.Lys404Thr) c.*510A>C (n.*510A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378495T= | CA2155953383 | SERPINA1 | c.1211A= (p.Lys404=) c.*510A= (n.*510A=) | |
| 14 | g.94378496T>A | CA390847420 | SERPINA1 | c.1210A>T (p.Lys404Ter) c.*509A>T (n.*509A>T) | |
| 14 | g.94378496T>C | CA390847418 | SERPINA1 | c.1210A>G (p.Lys404Glu) c.*509A>G (n.*509A>G) | |
| 14 | g.94378496T>G | CA390847416 | SERPINA1 | c.1210A>C (p.Lys404Gln) c.*509A>C (n.*509A>C) |