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.94378570G>A | CA390847719 | SERPINA1 | c.1136C>T (p.Ala379Val) c.*435C>T (n.*435C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378570G>C | CA390847720 | SERPINA1 | c.1136C>G (p.Ala379Gly) c.*435C>G (n.*435C>G) | |
| 14 | g.94378570G= | CA2155953427 | SERPINA1 | c.1136C= (p.Ala379=) c.*435C= (n.*435C=) | |
| 14 | g.94378570G>T | CA390847721 | SERPINA1 | c.1136C>A (p.Ala379Asp) c.*435C>A (n.*435C>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94378570_94378571delinsGC | CA2155953426 | SERPINA1 | c.1135_1136delinsGC (p.Ala379=) c.*434_*435delinsGC (n.*434_*435delinsGC) | |
| 14 | g.94378571C>A | CA390847722 | SERPINA1 | c.1135G>T (p.Ala379Ser) c.*434G>T (n.*434G>T) | gnomAD v4 |
| 14 | g.94378571C= | CA2155953428 | SERPINA1 | c.1135G= (p.Ala379=) c.*434G= (n.*434G=) | |
| 14 | g.94378571C>G | CA390847723 | SERPINA1 | c.1135G>C (p.Ala379Pro) c.*434G>C (n.*434G>C) | |
| 14 | g.94378571C>T | CA7327265 | SERPINA1 | c.1135G>A (p.Ala379Thr) c.*434G>A (n.*434G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378572del | CA710093451 | SERPINA1 | c.1135del (p.Ala379ProfsTer19) c.*434del (n.*434del) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378572C>A | CA390847724 | SERPINA1 | c.1134G>T (p.Glu378Asp) c.*433G>T (n.*433G>T) | |
| 14 | g.94378572C= | CA2155953429 | SERPINA1 | c.1134G= (p.Glu378=) c.*433G= (n.*433G=) | |
| 14 | g.94378572C>G | CA390847725 | SERPINA1 | c.1134G>C (p.Glu378Asp) c.*433G>C (n.*433G>C) | |
| 14 | g.94378572C>T | CA7327266 | SERPINA1 | c.1134G>A (p.Glu378=) c.*433G>A (n.*433G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378573T>A | CA390847726 | SERPINA1 | c.1133A>T (p.Glu378Val) c.*432A>T (n.*432A>T) | |
| 14 | g.94378573T>C | CA390847727 | SERPINA1 | c.1133A>G (p.Glu378Gly) c.*432A>G (n.*432A>G) | |
| 14 | g.94378573T>G | CA390847728 | SERPINA1 | c.1133A>C (p.Glu378Ala) c.*432A>C (n.*432A>C) | |
| 14 | g.94378573dup | CA616114986 | SERPINA1 | c.1133dup (p.Ala379GlyfsTer22) c.*432dup (n.*432dup) | dbSNP gnomAD v2 |
| 14 | g.94378574C>A | CA390847729 | SERPINA1 | c.1132G>T (p.Glu378Ter) c.*431G>T (n.*431G>T) | |
| 14 | g.94378574C= | CA2155953430 | SERPINA1 | c.1132G= (p.Glu378=) c.*431G= (n.*431G=) | |
| 14 | g.94378574C>G | CA390847730 | SERPINA1 | c.1132G>C (p.Glu378Gln) c.*431G>C (n.*431G>C) | |
| 14 | g.94378574C>T | CA390847731 | SERPINA1 | c.1132G>A (p.Glu378Lys) c.*431G>A (n.*431G>A) | ClinVar dbSNP |
| 14 | g.94378575T>A | CA127705 | SERPINA1 | c.1131A>T (p.Leu377Phe) c.*430A>T (n.*430A>T) | ClinVar dbSNP |
| 14 | g.94378575T>C | CA487621150 | SERPINA1 | c.1131A>G (p.Leu377=) c.*430A>G (n.*430A>G) | |
| 14 | g.94378575T>G | CA390847732 | SERPINA1 | c.1131A>C (p.Leu377Phe) c.*430A>C (n.*430A>C) | gnomAD v4 |
| 14 | g.94378575T= | CA2155953433 | SERPINA1 | c.1131A= (p.Leu377=) c.*430A= (n.*430A=) | |
| 14 | g.94378575dup | CA912980010 | SERPINA1 | c.1131dup (p.Glu378ArgfsTer23) c.*430dup (n.*430dup) | |
| 14 | g.94378575_94378576delinsTA | CA2155953431 | SERPINA1 | c.1130_1131delinsTA (p.Leu377=) c.*429_*430delinsTA (n.*429_*430delinsTA) | |
| 14 | g.94378575_94378580delinsTAAAAA | CA2155953432 | SERPINA1 | c.1126_1131delinsTTTTTA (p.Phe376=) c.*425_*430delinsTTTTTA (n.*425_*430delinsTTTTTA) | |
| 14 | g.94378576A>C | CA390847733 | SERPINA1 | c.1130T>G (p.Leu377Ter) c.*429T>G (n.*429T>G) | |
| 14 | g.94378576A>G | CA390847734 | SERPINA1 | c.1130T>C (p.Leu377Ser) c.*429T>C (n.*429T>C) | |
| 14 | g.94378576A>T | CA390847735 | SERPINA1 | c.1130T>A (p.Leu377Ter) c.*429T>A (n.*429T>A) | |
| 14 | g.94378576_94378580del | CA616114987 | SERPINA1 | c.1126_1130del (p.Phe376ArgfsTer23) c.*425_*429del (n.*425_*429del) | dbSNP gnomAD v2 |
| 14 | g.94378580dup | CA7327268 | SERPINA1 | c.1130dup (p.Leu377PhefsTer24) c.*429dup (n.*429dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378580del | CA7327267 | SERPINA1 | c.1130del (p.Leu377Ter) c.*429del (n.*429del) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.94378577A>C | CA390847737 | SERPINA1 | c.1129T>G (p.Leu377Val) c.*428T>G (n.*428T>G) | |
| 14 | g.94378577A>G | CA487621151 | SERPINA1 | c.1129T>C (p.Leu377=) c.*428T>C (n.*428T>C) | |
| 14 | g.94378577A>T | CA390847736 | SERPINA1 | c.1129T>A (p.Leu377Ile) c.*428T>A (n.*428T>A) | |
| 14 | g.94378578A>C | CA390847738 | SERPINA1 | c.1128T>G (p.Phe376Leu) c.*427T>G (n.*427T>G) | |
| 14 | g.94378578A>G | CA487621152 | SERPINA1 | c.1128T>C (p.Phe376=) c.*427T>C (n.*427T>C) | |
| 14 | g.94378578A>T | CA390847739 | SERPINA1 | c.1128T>A (p.Phe376Leu) c.*427T>A (n.*427T>A) | |
| 14 | g.94378579A>C | CA390847740 | SERPINA1 | c.1127T>G (p.Phe376Cys) c.*426T>G (n.*426T>G) | |
| 14 | g.94378579A>G | CA390847741 | SERPINA1 | c.1127T>C (p.Phe376Ser) c.*426T>C (n.*426T>C) | |
| 14 | g.94378579A>T | CA390847742 | SERPINA1 | c.1127T>A (p.Phe376Tyr) c.*426T>A (n.*426T>A) | |
| 14 | g.94378580A= | CA2155953434 | SERPINA1 | c.1126T= (p.Phe376=) c.*425T= (n.*425T=) | |
| 14 | g.94378580A>C | CA390847744 | SERPINA1 | c.1126T>G (p.Phe376Val) c.*425T>G (n.*425T>G) | |
| 14 | g.94378580A>G | CA390847743 | SERPINA1 | c.1126T>C (p.Phe376Leu) c.*425T>C (n.*425T>C) | gnomAD v4 |
| 14 | g.94378580A>T | CA265860653 | SERPINA1 | c.1126T>A (p.Phe376Ile) c.*425T>A (n.*425T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378581C>A | CA390847745 | SERPINA1 | c.1125G>T (p.Met375Ile) c.*424G>T (n.*424G>T) | |
| 14 | g.94378581C= | CA2155953435 | SERPINA1 | c.1125G= (p.Met375=) c.*424G= (n.*424G=) | |
| 14 | g.94378581C>G | CA390847746 | SERPINA1 | c.1125G>C (p.Met375Ile) c.*424G>C (n.*424G>C) | |
| 14 | g.94378581C>T | CA390847747 | SERPINA1 | c.1125G>A (p.Met375Ile) c.*424G>A (n.*424G>A) | gnomAD v4 |
| 14 | g.94378581_94378582insCTCCAG | CA616114988 | SERPINA1 | c.1124_1125insCTGGAG (p.Met375delinsIleTrpArg) c.*423_*424insCTGGAG (n.*423_*424insCTGGAG) | dbSNP gnomAD v2 |
| 14 | g.94378582A= | CA2155953436 | SERPINA1 | c.1124T= (p.Met375=) c.*423T= (n.*423T=) | |
| 14 | g.94378582A>C | CA390847748 | SERPINA1 | c.1124T>G (p.Met375Arg) c.*423T>G (n.*423T>G) | |
| 14 | g.94378582A>G | CA390847749 | SERPINA1 | c.1124T>C (p.Met375Thr) c.*423T>C (n.*423T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378582A>T | CA390847750 | SERPINA1 | c.1124T>A (p.Met375Lys) c.*423T>A (n.*423T>A) | |
| 14 | g.94378583T>A | CA390847751 | SERPINA1 | c.1123A>T (p.Met375Leu) c.*422A>T (n.*422A>T) | |
| 14 | g.94378583T>C | CA390847752 | SERPINA1 | c.1123A>G (p.Met375Val) c.*422A>G (n.*422A>G) | gnomAD v4 |
| 14 | g.94378583T>G | CA7327269 | SERPINA1 | c.1123A>C (p.Met375Leu) c.*422A>C (n.*422A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378583T= | CA2155953437 | SERPINA1 | c.1123A= (p.Met375=) c.*422A= (n.*422A=) | |
| 14 | g.94378584G>A | CA487621156 | SERPINA1 | c.1122C>T (p.Ala374=) c.*421C>T (n.*421C>T) | ClinVar dbSNP |
| 14 | g.94378584G>C | CA487621160 | SERPINA1 | c.1122C>G (p.Ala374=) c.*421C>G (n.*421C>G) | |
| 14 | g.94378584G>T | CA487621158 | SERPINA1 | c.1122C>A (p.Ala374=) c.*421C>A (n.*421C>A) | |
| 14 | g.94378585_94378586insGGGG | CA616114991 | SERPINA1 | c.1122_1123insCCCC (p.Met375ProfsTer27) c.*421_*422insCCCC (n.*421_*422insCCCC) | dbSNP gnomAD v2 |
| 14 | g.94378585G>A | CA390847753 | SERPINA1 | c.1121C>T (p.Ala374Val) c.*420C>T (n.*420C>T) | |
| 14 | g.94378585G>C | CA390847754 | SERPINA1 | c.1121C>G (p.Ala374Gly) c.*420C>G (n.*420C>G) | |
| 14 | g.94378585G= | CA2155953438 | SERPINA1 | c.1121C= (p.Ala374=) c.*420C= (n.*420C=) | |
| 14 | g.94378585G>T | CA390847755 | SERPINA1 | c.1121C>A (p.Ala374Asp) c.*420C>A (n.*420C>A) | ClinVar dbSNP |
| 14 | g.94378586C>A | CA390847756 | SERPINA1 | c.1120G>T (p.Ala374Ser) c.*419G>T (n.*419G>T) | |
| 14 | g.94378586C= | CA2155953439 | SERPINA1 | c.1120G= (p.Ala374=) c.*419G= (n.*419G=) | |
| 14 | g.94378586C>G | CA390847757 | SERPINA1 | c.1120G>C (p.Ala374Pro) c.*419G>C (n.*419G>C) | |
| 14 | g.94378586C>T | CA7327270 | SERPINA1 | c.1120G>A (p.Ala374Thr) c.*419G>A (n.*419G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378587C>A | CA487621162 | SERPINA1 | c.1119G>T (p.Gly373=) c.*418G>T (n.*418G>T) | |
| 14 | g.94378587C= | CA2155953440 | SERPINA1 | c.1119G= (p.Gly373=) c.*418G= (n.*418G=) | |
| 14 | g.94378587C>G | CA487621164 | SERPINA1 | c.1119G>C (p.Gly373=) c.*418G>C (n.*418G>C) | gnomAD v4 |
| 14 | g.94378587C>T | CA7327271 | SERPINA1 | c.1119G>A (p.Gly373=) c.*418G>A (n.*418G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378588C>A | CA390847760 | SERPINA1 | c.1118G>T (p.Gly373Val) c.*417G>T (n.*417G>T) | gnomAD v4 |
| 14 | g.94378588C>G | CA390847758 | SERPINA1 | c.1118G>C (p.Gly373Ala) c.*417G>C (n.*417G>C) | |
| 14 | g.94378588C>T | CA390847759 | SERPINA1 | c.1118G>A (p.Gly373Glu) c.*417G>A (n.*417G>A) | gnomAD v4 |
| 14 | g.94378589C>A | CA265860659 | SERPINA1 | c.1117G>T (p.Gly373Trp) c.*416G>T (n.*416G>T) | dbSNP |
| 14 | g.94378589C= | CA2155953441 | SERPINA1 | c.1117G= (p.Gly373=) c.*416G= (n.*416G=) | |
| 14 | g.94378589C>G | CA390847761 | SERPINA1 | c.1117G>C (p.Gly373Arg) c.*416G>C (n.*416G>C) | |
| 14 | g.94378589C>T | CA7327272 | SERPINA1 | c.1117G>A (p.Gly373Arg) c.*416G>A (n.*416G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378590A= | CA2155953443 | SERPINA1 | c.1116T= (p.Ala372=) c.*415T= (n.*415T=) | |
| 14 | g.94378590A>C | CA487621168 | SERPINA1 | c.1116T>G (p.Ala372=) c.*415T>G (n.*415T>G) | |
| 14 | g.94378590A>G | CA487621170 | SERPINA1 | c.1116T>C (p.Ala372=) c.*415T>C (n.*415T>C) | ClinVar dbSNP gnomAD v2 |
| 14 | g.94378590A>T | CA7327274 | SERPINA1 | c.1116T>A (p.Ala372=) c.*415T>A (n.*415T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378590_94378595delinsAGCAGC | CA2155953442 | SERPINA1 | c.1111_1116delinsGCTGCT (p.Ala371=) c.*410_*415delinsGCTGCT (n.*410_*415delinsGCTGCT) | |
| 14 | g.94378590_94378598delinsAGCAGCTTC | CA2155953444 | SERPINA1 | c.1108_1116delinsGAAGCTGCT (p.Glu370=) c.*407_*415delinsGAAGCTGCT (n.*407_*415delinsGAAGCTGCT) | |
| 14 | g.94378591del | CA2575614226 | SERPINA1 | c.1115del (p.Ala372ValfsTer6) c.*414del (n.*414del) | |
| 14 | g.94378591G>A | CA390847762 | SERPINA1 | c.1115C>T (p.Ala372Val) c.*414C>T (n.*414C>T) | gnomAD v4 |
| 14 | g.94378591G>C | CA390847764 | SERPINA1 | c.1115C>G (p.Ala372Gly) c.*414C>G (n.*414C>G) | |
| 14 | g.94378591G>T | CA390847763 | SERPINA1 | c.1115C>A (p.Ala372Asp) c.*414C>A (n.*414C>A) | dbSNP |
| 14 | g.94378591_94378595del | CA7327273 | SERPINA1 | c.1111_1115del (p.Ala371TrpfsTer28) c.*410_*414del (n.*410_*414del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378591_94378598delinsTGTTTTT | CA348973 | SERPINA1 | c.1108_1115delinsAAAAACA (p.Glu370LysfsTer8) c.*407_*414delinsAAAAACA (n.*407_*414delinsAAAAACA) | ClinVar dbSNP |
| 14 | g.94378592C>A | CA390847765 | SERPINA1 | c.1114G>T (p.Ala372Ser) c.*413G>T (n.*413G>T) | |
| 14 | g.94378592C= | CA2155953445 | SERPINA1 | c.1114G= (p.Ala372=) c.*413G= (n.*413G=) | |
| 14 | g.94378592C>G | CA390847766 | SERPINA1 | c.1114G>C (p.Ala372Pro) c.*413G>C (n.*413G>C) | |
| 14 | g.94378592C>T | CA390847767 | SERPINA1 | c.1114G>A (p.Ala372Thr) c.*413G>A (n.*413G>A) | dbSNP gnomAD v2 |
| 14 | g.94378592_94378593del | CA2499222787 | SERPINA1 | c.1113_1114del (p.Ala372TrpfsTer28) c.*412_*413del (n.*412_*413del) | ClinVar dbSNP |
| 14 | g.94378593A= | CA2155953446 | SERPINA1 | c.1113T= (p.Ala371=) c.*412T= (n.*412T=) | |
| 14 | g.94378593A>C | CA487621176 | SERPINA1 | c.1113T>G (p.Ala371=) c.*412T>G (n.*412T>G) | |
| 14 | g.94378593A>G | CA487621175 | SERPINA1 | c.1113T>C (p.Ala371=) c.*412T>C (n.*412T>C) | dbSNP gnomAD v2 |
| 14 | g.94378593A>T | CA487621174 | SERPINA1 | c.1113T>A (p.Ala371=) c.*412T>A (n.*412T>A) | |
| 14 | g.94378594del | CA2695219654 | SERPINA1 | c.1112del (p.Ala371ValfsTer7) c.*411del (n.*411del) | |
| 14 | g.94378594G>A | CA390847768 | SERPINA1 | c.1112C>T (p.Ala371Val) c.*411C>T (n.*411C>T) | |
| 14 | g.94378594G>C | CA390847769 | SERPINA1 | c.1112C>G (p.Ala371Gly) c.*411C>G (n.*411C>G) | |
| 14 | g.94378594G= | CA2155953447 | SERPINA1 | c.1112C= (p.Ala371=) c.*411C= (n.*411C=) | |
| 14 | g.94378594G>T | CA390847770 | SERPINA1 | c.1112C>A (p.Ala371Asp) c.*411C>A (n.*411C>A) | dbSNP gnomAD v4 |
| 14 | g.94378595C>A | CA390847771 | SERPINA1 | c.1111G>T (p.Ala371Ser) c.*410G>T (n.*410G>T) | |
| 14 | g.94378595C= | CA2155953448 | SERPINA1 | c.1111G= (p.Ala371=) c.*410G= (n.*410G=) | |
| 14 | g.94378595C>G | CA390847772 | SERPINA1 | c.1111G>C (p.Ala371Pro) c.*410G>C (n.*410G>C) | |
| 14 | g.94378595C>T | CA390847773 | SERPINA1 | c.1111G>A (p.Ala371Thr) c.*410G>A (n.*410G>A) | dbSNP |
| 14 | g.94378596T>A | CA390847775 | SERPINA1 | c.1110A>T (p.Glu370Asp) c.*409A>T (n.*409A>T) | |
| 14 | g.94378596T>C | CA487621178 | SERPINA1 | c.1110A>G (p.Glu370=) c.*409A>G (n.*409A>G) | |
| 14 | g.94378596T>G | CA390847774 | SERPINA1 | c.1110A>C (p.Glu370Asp) c.*409A>C (n.*409A>C) | |
| 14 | g.94378596_94378597insGTTT | CA7327275 | SERPINA1 | c.1110_1111insAACA (p.Ala371AsnfsTer31) c.*409_*410insAACA (n.*409_*410insAACA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378597T>A | CA390847777 | SERPINA1 | c.1109A>T (p.Glu370Val) c.*408A>T (n.*408A>T) | |
| 14 | g.94378597T>C | CA390847776 | SERPINA1 | c.1109A>G (p.Glu370Gly) c.*408A>G (n.*408A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378597T>G | CA390847778 | SERPINA1 | c.1109A>C (p.Glu370Ala) c.*408A>C (n.*408A>C) | gnomAD v4 |
| 14 | g.94378597T= | CA2155953449 | SERPINA1 | c.1109A= (p.Glu370=) c.*408A= (n.*408A=) | |
| 14 | g.94378598C>A | CA390847779 | SERPINA1 | c.1108G>T (p.Glu370Ter) c.*407G>T (n.*407G>T) | |
| 14 | g.94378598C= | CA2155953450 | SERPINA1 | c.1108G= (p.Glu370=) c.*407G= (n.*407G=) | |
| 14 | g.94378598C>G | CA390847780 | SERPINA1 | c.1108G>C (p.Glu370Gln) c.*407G>C (n.*407G>C) | |
| 14 | g.94378598C>T | CA7327276 | SERPINA1 | c.1108G>A (p.Glu370Lys) c.*407G>A (n.*407G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378599A= | CA2155953451 | SERPINA1 | c.1107T= (p.Thr369=) c.*406T= (n.*406T=) | |
| 14 | g.94378599A>C | CA487621182 | SERPINA1 | c.1107T>G (p.Thr369=) c.*406T>G (n.*406T>G) | gnomAD v4 |
| 14 | g.94378599A>G | CA7327277 | SERPINA1 | c.1107T>C (p.Thr369=) c.*406T>C (n.*406T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378599A>T | CA487621183 | SERPINA1 | c.1107T>A (p.Thr369=) c.*406T>A (n.*406T>A) | |
| 14 | g.94378600G>A | CA390847781 | SERPINA1 | c.1106C>T (p.Thr369Ile) c.*405C>T (n.*405C>T) | COSMIC |
| 14 | g.94378600G>C | CA390847782 | SERPINA1 | c.1106C>G (p.Thr369Ser) c.*405C>G (n.*405C>G) | |
| 14 | g.94378600G>T | CA390847783 | SERPINA1 | c.1106C>A (p.Thr369Asn) c.*405C>A (n.*405C>A) | |
| 14 | g.94378601T>A | CA390847784 | SERPINA1 | c.1105A>T (p.Thr369Ser) c.*404A>T (n.*404A>T) | |
| 14 | g.94378601T>C | CA390847785 | SERPINA1 | c.1105A>G (p.Thr369Ala) c.*404A>G (n.*404A>G) | |
| 14 | g.94378601T>G | CA390847786 | SERPINA1 | c.1105A>C (p.Thr369Pro) c.*404A>C (n.*404A>C) | |
| 14 | g.94378602C>A | CA487621187 | SERPINA1 | c.1104G>T (p.Gly368=) c.*403G>T (n.*403G>T) | gnomAD v4 |
| 14 | g.94378602C= | CA2155953452 | SERPINA1 | c.1104G= (p.Gly368=) c.*403G= (n.*403G=) | |
| 14 | g.94378602C>G | CA487621189 | SERPINA1 | c.1104G>C (p.Gly368=) c.*403G>C (n.*403G>C) | |
| 14 | g.94378602C>T | CA487621188 | SERPINA1 | c.1104G>A (p.Gly368=) c.*403G>A (n.*403G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.94378603C>A | CA390847787 | SERPINA1 | c.1103G>T (p.Gly368Val) c.*402G>T (n.*402G>T) | |
| 14 | g.94378603C= | CA2155953453 | SERPINA1 | c.1103G= (p.Gly368=) c.*402G= (n.*402G=) | |
| 14 | g.94378603C>G | CA390847788 | SERPINA1 | c.1103G>C (p.Gly368Ala) c.*402G>C (n.*402G>C) | |
| 14 | g.94378603C>T | CA7327278 | SERPINA1 | c.1103G>A (p.Gly368Glu) c.*402G>A (n.*402G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378604C>A | CA390847791 | SERPINA1 | c.1102G>T (p.Gly368Trp) c.*401G>T (n.*401G>T) | |
| 14 | g.94378604C>G | CA390847789 | SERPINA1 | c.1102G>C (p.Gly368Arg) c.*401G>C (n.*401G>C) | |
| 14 | g.94378604C>T | CA390847790 | SERPINA1 | c.1102G>A (p.Gly368Arg) c.*401G>A (n.*401G>A) | |
| 14 | g.94378605T>A | CA390847792 | SERPINA1 | c.1101A>T (p.Lys367Asn) c.*400A>T (n.*400A>T) | |
| 14 | g.94378605T>C | CA265860668 | SERPINA1 | c.1101A>G (p.Lys367=) c.*400A>G (n.*400A>G) | gnomAD v4 |
| 14 | g.94378605T>G | CA390847793 | SERPINA1 | c.1101A>C (p.Lys367Asn) c.*400A>C (n.*400A>C) | |
| 14 | g.94378606T>A | CA390847794 | SERPINA1 | c.1100A>T (p.Lys367Ile) c.*399A>T (n.*399A>T) | |
| 14 | g.94378606T>C | CA390847795 | SERPINA1 | c.1100A>G (p.Lys367Arg) c.*399A>G (n.*399A>G) | |
| 14 | g.94378606T>G | CA7327279 | SERPINA1 | c.1100A>C (p.Lys367Thr) c.*399A>C (n.*399A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378606T= | CA2155953454 | SERPINA1 | c.1100A= (p.Lys367=) c.*399A= (n.*399A=) | |
| 14 | g.94378607T>A | CA390847796 | SERPINA1 | c.1099A>T (p.Lys367Ter) c.*398A>T (n.*398A>T) | |
| 14 | g.94378607T>C | CA390847797 | SERPINA1 | c.1099A>G (p.Lys367Glu) c.*398A>G (n.*398A>G) | |
| 14 | g.94378607T>G | CA390847798 | SERPINA1 | c.1099A>C (p.Lys367Gln) c.*398A>C (n.*398A>C) | |
| 14 | g.94378608C>A | CA390847799 | SERPINA1 | c.1098G>T (p.Glu366Asp) c.*397G>T (n.*397G>T) | |
| 14 | g.94378608C= | CA2155953455 | SERPINA1 | c.1098G= (p.Glu366=) c.*397G= (n.*397G=) | |
| 14 | g.94378608C>G | CA390847800 | SERPINA1 | c.1098G>C (p.Glu366Asp) c.*397G>C (n.*397G>C) | dbSNP |
| 14 | g.94378608C>T | CA487621194 | SERPINA1 | c.1098G>A (p.Glu366=) c.*397G>A (n.*397G>A) | |
| 14 | g.94378609T>A | CA390847803 | SERPINA1 | c.1097A>T (p.Glu366Val) c.*396A>T (n.*396A>T) | |
| 14 | g.94378609T>C | CA390847802 | SERPINA1 | c.1097A>G (p.Glu366Gly) c.*396A>G (n.*396A>G) | ClinVar gnomAD v4 |
| 14 | g.94378609T>G | CA390847801 | SERPINA1 | c.1097A>C (p.Glu366Ala) c.*396A>C (n.*396A>C) | |
| 14 | g.94378610C>A | CA390847804 | SERPINA1 | c.1096G>T (p.Glu366Ter) c.*395G>T (n.*395G>T) | gnomAD v4 |
| 14 | g.94378610C= | CA2155953456 | SERPINA1 | c.1096G= (p.Glu366=) c.*395G= (n.*395G=) | |
| 14 | g.94378610C>G | CA390847805 | SERPINA1 | c.1096G>C (p.Glu366Gln) c.*395G>C (n.*395G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378610C>T | CA127676 | SERPINA1 | c.1096G>A (p.Glu366Lys) c.*395G>A (n.*395G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.[94378610C>T;94383203A>G] | CA913203354 | SERPINA1 | c.[35T>C;1096G>A] (p.[Leu12Pro;Glu366Lys]) c.[35T>C;*395G>A] ([p.Leu12Pro;n.*395G>A]) | ClinVar |
| 14 | g.94378611G>A | CA7327281 | SERPINA1 | c.1095C>T (p.Asp365=) c.*394C>T (n.*394C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378611G>C | CA7327280 | SERPINA1 | c.1095C>G (p.Asp365Glu) c.*394C>G (n.*394C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378611G= | CA2155953457 | SERPINA1 | c.1095C= (p.Asp365=) c.*394C= (n.*394C=) | |
| 14 | g.94378611G>T | CA390847806 | SERPINA1 | c.1095C>A (p.Asp365Glu) c.*394C>A (n.*394C>A) | |
| 14 | g.94378612T>A | CA350011 | SERPINA1 | c.1094A>T (p.Asp365Val) c.*393A>T (n.*393A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378612T>C | CA390847807 | SERPINA1 | c.1094A>G (p.Asp365Gly) c.*393A>G (n.*393A>G) | dbSNP |
| 14 | g.94378612T>G | CA390847808 | SERPINA1 | c.1094A>C (p.Asp365Ala) c.*393A>C (n.*393A>C) | |
| 14 | g.94378612T= | CA2155953458 | SERPINA1 | c.1094A= (p.Asp365=) c.*393A= (n.*393A=) | |
| 14 | g.94378613C>A | CA348804 | SERPINA1 | c.1093G>T (p.Asp365Tyr) c.*392G>T (n.*392G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378613C= | CA2155953459 | SERPINA1 | c.1093G= (p.Asp365=) c.*392G= (n.*392G=) | |
| 14 | g.94378613C>G | CA7327282 | SERPINA1 | c.1093G>C (p.Asp365His) c.*392G>C (n.*392G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378613C>T | CA127626 | SERPINA1 | c.1093G>A (p.Asp365Asn) c.*392G>A (n.*392G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378614G>A | CA7327284 | SERPINA1 | c.1092C>T (p.Ile364=) c.*391C>T (n.*391C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378614G>C | CA7327283 | SERPINA1 | c.1092C>G (p.Ile364Met) c.*391C>G (n.*391C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378614G= | CA2155953460 | SERPINA1 | c.1092C= (p.Ile364=) c.*391C= (n.*391C=) | |
| 14 | g.94378614G>T | CA265860679 | SERPINA1 | c.1092C>A (p.Ile364=) c.*391C>A (n.*391C>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94378615A>C | CA390847809 | SERPINA1 | c.1091T>G (p.Ile364Ser) c.*390T>G (n.*390T>G) | |
| 14 | g.94378615A>G | CA390847810 | SERPINA1 | c.1091T>C (p.Ile364Thr) c.*390T>C (n.*390T>C) | |
| 14 | g.94378615A>T | CA390847811 | SERPINA1 | c.1091T>A (p.Ile364Asn) c.*390T>A (n.*390T>A) | |
| 14 | g.94378616T>A | CA390847812 | SERPINA1 | c.1090A>T (p.Ile364Phe) c.*389A>T (n.*389A>T) | gnomAD v4 |
| 14 | g.94378616T>C | CA7327285 | SERPINA1 | c.1090A>G (p.Ile364Val) c.*389A>G (n.*389A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378616T>G | CA390847813 | SERPINA1 | c.1090A>C (p.Ile364Leu) c.*389A>C (n.*389A>C) | |
| 14 | g.94378616T= | CA2155953461 | SERPINA1 | c.1090A= (p.Ile364=) c.*389A= (n.*389A=) | |
| 14 | g.94378617G>A | CA487621201 | SERPINA1 | c.1089C>T (p.Thr363=) c.*388C>T (n.*388C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378617G>C | CA265860682 | SERPINA1 | c.1089C>G (p.Thr363=) c.*388C>G (n.*388C>G) | dbSNP |
| 14 | g.94378617G= | CA2155953462 | SERPINA1 | c.1089C= (p.Thr363=) c.*388C= (n.*388C=) | |
| 14 | g.94378617G>T | CA487621202 | SERPINA1 | c.1089C>A (p.Thr363=) c.*388C>A (n.*388C>A) | |
| 14 | g.94378618G>A | CA390847814 | SERPINA1 | c.1088C>T (p.Thr363Ile) c.*387C>T (n.*387C>T) | dbSNP |
| 14 | g.94378618G>C | CA390847815 | SERPINA1 | c.1088C>G (p.Thr363Ser) c.*387C>G (n.*387C>G) | |
| 14 | g.94378618G= | CA2155953463 | SERPINA1 | c.1088C= (p.Thr363=) c.*387C= (n.*387C=) | |
| 14 | g.94378618G>T | CA390847816 | SERPINA1 | c.1088C>A (p.Thr363Asn) c.*387C>A (n.*387C>A) | gnomAD v4 |
| 14 | g.94378619T>A | CA390847817 | SERPINA1 | c.1087A>T (p.Thr363Ser) c.*386A>T (n.*386A>T) | |
| 14 | g.94378619T>C | CA390847818 | SERPINA1 | c.1087A>G (p.Thr363Ala) c.*386A>G (n.*386A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378619T>G | CA390847819 | SERPINA1 | c.1087A>C (p.Thr363Pro) c.*386A>C (n.*386A>C) | |
| 14 | g.94378619T= | CA2155953464 | SERPINA1 | c.1087A= (p.Thr363=) c.*386A= (n.*386A=) | |
| 14 | g.94378620C>A | CA265860684 | SERPINA1 | c.1086G>T (p.Leu362=) c.*385G>T (n.*385G>T) | dbSNP |
| 14 | g.94378620C= | CA2155953465 | SERPINA1 | c.1086G= (p.Leu362=) c.*385G= (n.*385G=) | |
| 14 | g.94378620C>G | CA487621204 | SERPINA1 | c.1086G>C (p.Leu362=) c.*385G>C (n.*385G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378620C>T | CA7327286 | SERPINA1 | c.1086G>A (p.Leu362=) c.*385G>A (n.*385G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378621A= | CA2155953466 | SERPINA1 | c.1085T= (p.Leu362=) c.*384T= (n.*384T=) | |
| 14 | g.94378621A>C | CA390847820 | SERPINA1 | c.1085T>G (p.Leu362Arg) c.*384T>G (n.*384T>G) | |
| 14 | g.94378621A>G | CA390847822 | SERPINA1 | c.1085T>C (p.Leu362Pro) c.*384T>C (n.*384T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378621A>T | CA390847821 | SERPINA1 | c.1085T>A (p.Leu362Gln) c.*384T>A (n.*384T>A) | |
| 14 | g.94378622G>A | CA487621207 | SERPINA1 | c.1084C>T (p.Leu362=) c.*383C>T (n.*383C>T) | |
| 14 | g.94378622G>C | CA390847823 | SERPINA1 | c.1084C>G (p.Leu362Val) c.*383C>G (n.*383C>G) | |
| 14 | g.94378622G= | CA2155953467 | SERPINA1 | c.1084C= (p.Leu362=) c.*383C= (n.*383C=) | |
| 14 | g.94378622G>T | CA265860686 | SERPINA1 | c.1084C>A (p.Leu362Met) c.*383C>A (n.*383C>A) | dbSNP |
| 14 | g.94378623del | CA2695219655 | SERPINA1 | c.1083del (p.Leu362Ter) c.*382del (n.*382del) | |
| 14 | g.94378623C>A | CA487621208 | SERPINA1 | c.1083G>T (p.Val361=) c.*382G>T (n.*382G>T) | ClinVar dbSNP |
| 14 | g.94378623C= | CA2155953468 | SERPINA1 | c.1083G= (p.Val361=) c.*382G= (n.*382G=) | |
| 14 | g.94378623C>G | CA487621209 | SERPINA1 | c.1083G>C (p.Val361=) c.*382G>C (n.*382G>C) | |
| 14 | g.94378623C>T | CA265860688 | SERPINA1 | c.1083G>A (p.Val361=) c.*382G>A (n.*382G>A) | dbSNP gnomAD v4 |
| 14 | g.94378624A= | CA2155953469 | SERPINA1 | c.1082T= (p.Val361=) c.*381T= (n.*381T=) | |
| 14 | g.94378624A>C | CA7327287 | SERPINA1 | c.1082T>G (p.Val361Gly) c.*381T>G (n.*381T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378624A>G | CA265860691 | SERPINA1 | c.1082T>C (p.Val361Ala) c.*381T>C (n.*381T>C) | dbSNP gnomAD v4 COSMIC |
| 14 | g.94378624A>T | CA390847824 | SERPINA1 | c.1082T>A (p.Val361Glu) c.*381T>A (n.*381T>A) | gnomAD v4 |
| 14 | g.94378624_94378625delinsAC | CA2155953470 | SERPINA1 | c.1081_1082delinsGT (p.Val361=) c.*380_*381delinsGT (n.*380_*381delinsGT) | |
| 14 | g.94378625del | CA265860692 | SERPINA1 | c.1081del (p.Val361CysfsTer2) c.*380del (n.*380del) | dbSNP |
| 14 | g.94378625C>A | CA390847825 | SERPINA1 | c.1081G>T (p.Val361Leu) c.*380G>T (n.*380G>T) | |
| 14 | g.94378625C= | CA2155953471 | SERPINA1 | c.1081G= (p.Val361=) c.*380G= (n.*380G=) | |
| 14 | g.94378625C>G | CA390847826 | SERPINA1 | c.1081G>C (p.Val361Leu) c.*380G>C (n.*380G>C) | |
| 14 | g.94378625C>T | CA390847827 | SERPINA1 | c.1081G>A (p.Val361Met) c.*380G>A (n.*380G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94378626A= | CA2155953472 | SERPINA1 | c.1080T= (p.Ala360=) c.*379T= (n.*379T=) | |
| 14 | g.94378626A>C | CA487621210 | SERPINA1 | c.1080T>G (p.Ala360=) c.*379T>G (n.*379T>G) | |
| 14 | g.94378626A>G | CA487621211 | SERPINA1 | c.1080T>C (p.Ala360=) c.*379T>C (n.*379T>C) | dbSNP |
| 14 | g.94378626A>T | CA487621212 | SERPINA1 | c.1080T>A (p.Ala360=) c.*379T>A (n.*379T>A) | |
| 14 | g.94378627G>A | CA390847828 | SERPINA1 | c.1079C>T (p.Ala360Val) c.*378C>T (n.*378C>T) | gnomAD v4 |
| 14 | g.94378627G>C | CA390847829 | SERPINA1 | c.1079C>G (p.Ala360Gly) c.*378C>G (n.*378C>G) | |
| 14 | g.94378627G= | CA2155953473 | SERPINA1 | c.1079C= (p.Ala360=) c.*378C= (n.*378C=) | |
| 14 | g.94378627G>T | CA7327288 | SERPINA1 | c.1079C>A (p.Ala360Asp) c.*378C>A (n.*378C>A) | dbSNP ExAC |
| 14 | g.94378628C>A | CA390847830 | SERPINA1 | c.1078G>T (p.Ala360Ser) c.*377G>T (n.*377G>T) | dbSNP |
| 14 | g.94378628C= | CA2155953474 | SERPINA1 | c.1078G= (p.Ala360=) c.*377G= (n.*377G=) | |
| 14 | g.94378628C>G | CA7327289 | SERPINA1 | c.1078G>C (p.Ala360Pro) c.*377G>C (n.*377G>C) | dbSNP ExAC gnomAD v4 |
| 14 | g.94378628C>T | CA127731 | SERPINA1 | c.1078G>A (p.Ala360Thr) c.*377G>A (n.*377G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378629C>A | CA390847831 | SERPINA1 | c.1077G>T (p.Lys359Asn) c.*376G>T (n.*376G>T) | gnomAD v4 |
| 14 | g.94378629C>G | CA390847832 | SERPINA1 | c.1077G>C (p.Lys359Asn) c.*376G>C (n.*376G>C) | |
| 14 | g.94378629C>T | CA487621214 | SERPINA1 | c.1077G>A (p.Lys359=) c.*376G>A (n.*376G>A) | ClinVar |
| 14 | g.94378630T>A | CA265860697 | SERPINA1 | c.1076A>T (p.Lys359Met) c.*375A>T (n.*375A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378630T>C | CA390847833 | SERPINA1 | c.1076A>G (p.Lys359Arg) c.*375A>G (n.*375A>G) | |
| 14 | g.94378630T>G | CA390847834 | SERPINA1 | c.1076A>C (p.Lys359Thr) c.*375A>C (n.*375A>C) | |
| 14 | g.94378630T= | CA2155953475 | SERPINA1 | c.1076A= (p.Lys359=) c.*375A= (n.*375A=) | |
| 14 | g.94378631del | CA645582233 | SERPINA1 | c.1076del (p.Lys359ArgfsTer4) c.*375del (n.*375del) | COSMIC |
| 14 | g.94378631T>A | CA390847835 | SERPINA1 | c.1075A>T (p.Lys359Ter) c.*374A>T (n.*374A>T) | |
| 14 | g.94378631T>C | CA7327290 | SERPINA1 | c.1075A>G (p.Lys359Glu) c.*374A>G (n.*374A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94378631T>G | CA390847836 | SERPINA1 | c.1075A>C (p.Lys359Gln) c.*374A>C (n.*374A>C) | |
| 14 | g.94378631T= | CA2155953476 | SERPINA1 | c.1075A= (p.Lys359=) c.*374A= (n.*374A=) | |
| 14 | g.94378632A>C | CA390847837 | SERPINA1 | c.1074T>G (p.His358Gln) c.*373T>G (n.*373T>G) | |
| 14 | g.94378632A>G | CA487621215 | SERPINA1 | c.1074T>C (p.His358=) c.*373T>C (n.*373T>C) | |
| 14 | g.94378632A>T | CA390847838 | SERPINA1 | c.1074T>A (p.His358Gln) c.*373T>A (n.*373T>A) | gnomAD v4 |
| 14 | g.94378632_94378634delinsATG | CA2155953477 | SERPINA1 | c.1072_1074delinsCAT (p.His358=) c.*371_*373delinsCAT (n.*371_*373delinsCAT) | |
| 14 | g.94378633T>A | CA390847840 | SERPINA1 | c.1073A>T (p.His358Leu) c.*372A>T (n.*372A>T) | |
| 14 | g.94378633T>C | CA390847841 | SERPINA1 | c.1073A>G (p.His358Arg) c.*372A>G (n.*372A>G) | ClinVar dbSNP |
| 14 | g.94378633T>G | CA390847839 | SERPINA1 | c.1073A>C (p.His358Pro) c.*372A>C (n.*372A>C) | |
| 14 | g.94378633T= | CA2155953478 | SERPINA1 | c.1073A= (p.His358=) c.*372A= (n.*372A=) | |
| 14 | g.94378633_94378634del | CA658653822 | SERPINA1 | c.1072_1073del (p.His358Ter) c.*371_*372del (n.*371_*372del) | ClinVar dbSNP |
| 14 | g.94378634G>A | CA390847842 | SERPINA1 | c.1072C>T (p.His358Tyr) c.*371C>T (n.*371C>T) | gnomAD v4 |
| 14 | g.94378634G>C | CA390847843 | SERPINA1 | c.1072C>G (p.His358Asp) c.*371C>G (n.*371C>G) | |
| 14 | g.94378634G>T | CA390847844 | SERPINA1 | c.1072C>A (p.His358Asn) c.*371C>A (n.*371C>A) | COSMIC |
| 14 | g.94378635C>A | CA487621220 | SERPINA1 | c.1071G>T (p.Val357=) c.*370G>T (n.*370G>T) | |
| 14 | g.94378635C= | CA2155953479 | SERPINA1 | c.1071G= (p.Val357=) c.*370G= (n.*370G=) | |
| 14 | g.94378635C>G | CA265860700 | SERPINA1 | c.1071G>C (p.Val357=) c.*370G>C (n.*370G>C) | dbSNP |
| 14 | g.94378635C>T | CA487621221 | SERPINA1 | c.1071G>A (p.Val357=) c.*370G>A (n.*370G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378636A= | CA2155953480 | SERPINA1 | c.1070T= (p.Val357=) c.*369T= (n.*369T=) | |
| 14 | g.94378636A>C | CA390847845 | SERPINA1 | c.1070T>G (p.Val357Gly) c.*369T>G (n.*369T>G) | |
| 14 | g.94378636A>G | CA390847846 | SERPINA1 | c.1070T>C (p.Val357Ala) c.*369T>C (n.*369T>C) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94378636A>T | CA390847847 | SERPINA1 | c.1070T>A (p.Val357Glu) c.*369T>A (n.*369T>A) | |
| 14 | g.94378637C>A | CA390847848 | SERPINA1 | c.1069G>T (p.Val357Leu) c.*368G>T (n.*368G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378637C= | CA2155953481 | SERPINA1 | c.1069G= (p.Val357=) c.*368G= (n.*368G=) | |
| 14 | g.94378637C>G | CA390847849 | SERPINA1 | c.1069G>C (p.Val357Leu) c.*368G>C (n.*368G>C) | |
| 14 | g.94378637C>T | CA7327291 | SERPINA1 | c.1069G>A (p.Val357Met) c.*368G>A (n.*368G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94378638G>A | CA7327292 | SERPINA1 | c.1068C>T (p.Ala356=) c.*367C>T (n.*367C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378638G>C | CA487621225 | SERPINA1 | c.1068C>G (p.Ala356=) c.*367C>G (n.*367C>G) | |
| 14 | g.94378638G= | CA2155953482 | SERPINA1 | c.1068C= (p.Ala356=) c.*367C= (n.*367C=) | |
| 14 | g.94378638G>T | CA487621226 | SERPINA1 | c.1068C>A (p.Ala356=) c.*367C>A (n.*367C>A) | |
| 14 | g.94378639G>A | CA390847850 | SERPINA1 | c.1067C>T (p.Ala356Val) c.*366C>T (n.*366C>T) | COSMIC |
| 14 | g.94378639G>C | CA390847851 | SERPINA1 | c.1067C>G (p.Ala356Gly) c.*366C>G (n.*366C>G) | |
| 14 | g.94378639G>T | CA390847852 | SERPINA1 | c.1067C>A (p.Ala356Asp) c.*366C>A (n.*366C>A) | |
| 14 | g.94378639_94379462delinsGCCTGGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACACATTCTTCCCTACAGATACCAGGGTGCAACAAGGTCGTCAGGGTGATCTCA | CA2155953483 | SERPINA1 | c.1065+2_1067delinsTGAGATCACCCTGACGACCTTGTTGCACCCTGGTATCTGTAGGGAAGAATGTGTGGGGGCTGCAGCTCTGTCCTGAGGCTGAGGAAGGGGCCGAGGGAAACAAATGAAGACCCAGGCTGAGCTCCTGAAGATGCCCGTGATTCACTGACACGGGACGTGGTCAAACAGCAAAGCCAGGCAGGGGACTGCTGTGCAGCTGGCACTTTCGGGGCCTCCCTTGAGGTTGTGTCACTGACCCTGAATTTCAACTTTGCCCAAGACCTTCTAGACATTGGGCCTTGATTTATCCATACTGACACAGAAAGGTTTGGGCTAAGTTGTTTCAAAGGAATTTCTGACTCCTTCGATCTGTGAGATTTGGTGTCTGAATTAATGAATGATTTCAGCTAAAGATGACACTTATTTTGGAAAACTAAAGGCGACCAATGAACAACTGCAGTTCCATGAATGGCTGCATTATCTTGGGGTCTGGGCACTGTGAAGGTCACTGCCAGGGTCCGTGTCCTCAAGGAGCTTCAAGCCGTGTACTAGAAAGGAGAGAGCCCTGGAGGCAGACGTGGAGTGACGATGCTCTTCCCTGTTCTGAGTTGTGGGTGCACCTGAGCAGGGGGAGAGGCGCTTGTCAGGAAGATGGACAGAGGGGAGCCAGCCCCATCAGCCAAAGCCTTGAGGAGGAGCAAGGCCTATGTGACAGGGAGGGAGAGGATGTGCAGGGCCAGGGCCGTCCAGGGGGAGTGAGCGCTTCCTGGGAGGTGTCCACGTGAGCCTTGCTCGAGGCCTGGGATCAGCCTTACAACGTGTCTCTGCTTCTCTCCCCTCCAGGC c.*364+2_*366delinsTGAGATCACCCTGACGACCTTGTTGCACCCTGGTATCTGTAGGGAAGAATGTGTGGGGGCTGCAGCTCTGTCCTGAGGCTGAGGAAGGGGCCGAGGGAAACAAATGAAGACCCAGGCTGAGCTCCTGAAGATGCCCGTGATTCACTGACACGGGACGTGGTCAAACAGCAAAGCCAGGCAGGGGACTGCTGTGCAGCTGGCACTTTCGGGGCCTCCCTTGAGGTTGTGTCACTGACCCTGAATTTCAACTTTGCCCAAGACCTTCTAGACATTGGGCCTTGATTTATCCATACTGACACAGAAAGGTTTGGGCTAAGTTGTTTCAAAGGAATTTCTGACTCCTTCGATCTGTGAGATTTGGTGTCTGAATTAATGAATGATTTCAGCTAAAGATGACACTTATTTTGGAAAACTAAAGGCGACCAATGAACAACTGCAGTTCCATGAATGGCTGCATTATCTTGGGGTCTGGGCACTGTGAAGGTCACTGCCAGGGTCCGTGTCCTCAAGGAGCTTCAAGCCGTGTACTAGAAAGGAGAGAGCCCTGGAGGCAGACGTGGAGTGACGATGCTCTTCCCTGTTCTGAGTTGTGGGTGCACCTGAGCAGGGGGAGAGGCGCTTGTCAGGAAGATGGACAGAGGGGAGCCAGCCCCATCAGCCAAAGCCTTGAGGAGGAGCAAGGCCTATGTGACAGGGAGGGAGAGGATGTGCAGGGCCAGGGCCGTCCAGGGGGAGTGAGCGCTTCCTGGGAGGTGTCCACGTGAGCCTTGCTCGAGGCCTGGGATCAGCCTTACAACGTGTCTCTGCTTCTCTCCCCTCCAGGC | |
| 14 | g.94378640C>A | CA390847853 | SERPINA1 | c.1066G>T (p.Ala356Ser) c.*365G>T (n.*365G>T) | |
| 14 | g.94378640C= | CA2155953484 | SERPINA1 | c.1066G= (p.Ala356=) c.*365G= (n.*365G=) | |
| 14 | g.94378640C>G | CA390847855 | SERPINA1 | c.1066G>C (p.Ala356Pro) c.*365G>C (n.*365G>C) | dbSNP gnomAD v4 |
| 14 | g.94378640C>T | CA390847854 | SERPINA1 | c.1066G>A (p.Ala356Thr) c.*365G>A (n.*365G>A) | gnomAD v4 |
| 14 | g.94378643_94379465del | CA658653823 | SERPINA1 | c.1065+2_1066del c.*364+2_*365del | ClinVar dbSNP |
| 14 | g.94378641C>A | CA390847856 | SERPINA1 | c.1066-1G>T (n.1066-1G>T) c.*365-1G>T (n.*365-1G>T) | ClinVar dbSNP |
| 14 | g.94378641C= | CA2155953485 | SERPINA1 | c.1066-1G= (n.1066-1G=) c.*365-1G= (n.*365-1G=) | |
| 14 | g.94378641C>G | CA390847857 | SERPINA1 | c.1066-1G>C (n.1066-1G>C) c.*365-1G>C (n.*365-1G>C) | |
| 14 | g.94378641C>T | CA390847858 | SERPINA1 | c.1066-1G>A (n.1066-1G>A) c.*365-1G>A (n.*365-1G>A) | |
| 14 | g.94378642T>A | CA390847859 | SERPINA1 | c.1066-2A>T (n.1066-2A>T) c.*365-2A>T (n.*365-2A>T) | gnomAD v4 |
| 14 | g.94378642T>C | CA390847860 | SERPINA1 | c.1066-2A>G (n.1066-2A>G) c.*365-2A>G (n.*365-2A>G) | |
| 14 | g.94378642T>G | CA390847861 | SERPINA1 | c.1066-2A>C (n.1066-2A>C) c.*365-2A>C (n.*365-2A>C) | |
| 14 | g.94378642dup | CA265860707 | SERPINA1 | c.1066-2dup (n.1066-2dup) c.*365-2dup (n.*365-2dup) | dbSNP gnomAD v4 |
| 14 | g.94378642_94378643insTGGAGAGCTTCAGGGGTGCCTCCTCTGTGACCCC | CA2626279685 | SERPINA1 | c.1066-3_1066-2insGGGGTCACAGAGGAGGCACCCCTGAAGCTCTCCA (n.1066-3_1066-2insGGGGTCACAGAGGAGGCACCCCTGAAGCTCTCCA) c.*365-3_*365-2insGGGGTCACAGAGGAGGCACCCCTGAAGCTCTCCA (n.*365-3_*365-2insGGGGTCACAGAGGAGGCACCCCTGAAGCTCTCCA) | gnomAD v4 |
| 14 | g.94378643G= | CA2155953486 | SERPINA1 | c.1066-3C= (n.1066-3C=) c.*365-3C= (n.*365-3C=) | |
| 14 | g.94378643G>T | CA265860709 | SERPINA1 | c.1066-3C>A (n.1066-3C>A) c.*365-3C>A (n.*365-3C>A) | dbSNP |
| 14 | g.94378644G>A | CA7327293 | SERPINA1 | c.1066-4C>T (n.1066-4C>T) c.*365-4C>T (n.*365-4C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378644G= | CA2155953487 | SERPINA1 | c.1066-4C= (n.1066-4C=) c.*365-4C= (n.*365-4C=) | |
| 14 | g.94378645A>C | CA2697554190 | SERPINA1 | c.1066-5T>G (n.1066-5T>G) c.*365-5T>G (n.*365-5T>G) | ClinVar |
| 14 | g.94378646G>A | CA966158889 | SERPINA1 | c.1066-6C>T (n.1066-6C>T) c.*365-6C>T (n.*365-6C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378646G= | CA2155953488 | SERPINA1 | c.1066-6C= (n.1066-6C=) c.*365-6C= (n.*365-6C=) | |
| 14 | g.94378649dup | CA2575614255 | SERPINA1 | c.1066-6dup (n.1066-6dup) c.*365-6dup (n.*365-6dup) | gnomAD v4 |
| 14 | g.94378646_94378647insA | CA2626279688 | SERPINA1 | c.1066-7_1066-6insT (n.1066-7_1066-6insT) c.*365-7_*365-6insT (n.*365-7_*365-6insT) | gnomAD v4 |
| 14 | g.94378647G>A | CA265860712 | SERPINA1 | c.1066-7C>T (n.1066-7C>T) c.*365-7C>T (n.*365-7C>T) | dbSNP |
| 14 | g.94378647G= | CA2155953489 | SERPINA1 | c.1066-7C= (n.1066-7C=) c.*365-7C= (n.*365-7C=) | |
| 14 | g.94378647_94378648insCTTCAGGGGTGCCTCCTCTGTGACCCC | CA2626279689 | SERPINA1 | c.1066-8_1066-7insGGGGTCACAGAGGAGGCACCCCTGAAG (n.1066-8_1066-7insGGGGTCACAGAGGAGGCACCCCTGAAG) c.*365-8_*365-7insGGGGTCACAGAGGAGGCACCCCTGAAG (n.*365-8_*365-7insGGGGTCACAGAGGAGGCACCCCTGAAG) | gnomAD v4 |
| 14 | g.94378648G>A | CA2626279690 | SERPINA1 | c.1066-8C>T (n.1066-8C>T) c.*365-8C>T (n.*365-8C>T) | gnomAD v4 |
| 14 | g.94378649G>A | CA2626279691 | SERPINA1 | c.1066-9C>T (n.1066-9C>T) c.*365-9C>T (n.*365-9C>T) | gnomAD v4 |
| 14 | g.94378649G>C | CA616115005 | SERPINA1 | c.1066-9C>G (n.1066-9C>G) c.*365-9C>G (n.*365-9C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378649G= | CA2155953490 | SERPINA1 | c.1066-9C= (n.1066-9C=) c.*365-9C= (n.*365-9C=) | |
| 14 | g.94378650A>G | CA2626279692 | SERPINA1 | c.1066-10T>C (n.1066-10T>C) c.*365-10T>C (n.*365-10T>C) | gnomAD v4 |
| 14 | g.94378651G>A | CA7327295 | SERPINA1 | c.1066-11C>T (n.1066-11C>T) c.*365-11C>T (n.*365-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378651G>C | CA2626279693 | SERPINA1 | c.1066-11C>G (n.1066-11C>G) c.*365-11C>G (n.*365-11C>G) | gnomAD v4 |
| 14 | g.94378651G= | CA2155953491 | SERPINA1 | c.1066-11C= (n.1066-11C=) c.*365-11C= (n.*365-11C=) | |
| 14 | g.94378651_94378654delinsGAGA | CA2155953492 | SERPINA1 | c.1066-14_1066-11delinsTCTC (n.1066-14_1066-11delinsTCTC) c.*365-14_*365-11delinsTCTC (n.*365-14_*365-11delinsTCTC) | |
| 14 | g.94378652del | CA966158893 | SERPINA1 | c.1066-12del (n.1066-12del) c.*365-12del (n.*365-12del) | gnomAD v3 gnomAD v4 |
| 14 | g.94378654_94378656del | CA7327294 | SERPINA1 | c.1066-14_1066-12del (n.1066-14_1066-12del) c.*365-14_*365-12del (n.*365-14_*365-12del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378653G>A | CA2626279694 | SERPINA1 | c.1066-13C>T (n.1066-13C>T) c.*365-13C>T (n.*365-13C>T) | gnomAD v4 |
| 14 | g.94378654A= | CA2155953493 | SERPINA1 | c.1066-14T= (n.1066-14T=) c.*365-14T= (n.*365-14T=) | |
| 14 | g.94378654A>G | CA615829828 | SERPINA1 | c.1066-14T>C (n.1066-14T>C) c.*365-14T>C (n.*365-14T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378655A>G | CA2697554191 | SERPINA1 | c.1066-15T>C (n.1066-15T>C) c.*365-15T>C (n.*365-15T>C) | ClinVar |
| 14 | g.94378656_94378697del | CA2598333450 | SERPINA1 | c.1066-57_1066-16del (n.1066-57_1066-16del) c.*365-57_*365-16del (n.*365-57_*365-16del) | gnomAD v3 gnomAD v4 |
| 14 | g.94378657C>A | CA615829830 | SERPINA1 | c.1066-17G>T (n.1066-17G>T) c.*365-17G>T (n.*365-17G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378657C= | CA2155953494 | SERPINA1 | c.1066-17G= (n.1066-17G=) c.*365-17G= (n.*365-17G=) | |
| 14 | g.94378657C>G | CA2697554192 | SERPINA1 | c.1066-17G>C (n.1066-17G>C) c.*365-17G>C (n.*365-17G>C) | ClinVar |
| 14 | g.94378657C>T | CA2575614257 | SERPINA1 | c.1066-17G>A (n.1066-17G>A) c.*365-17G>A (n.*365-17G>A) | |
| 14 | g.94378658A= | CA2155953495 | SERPINA1 | c.1066-18T= (n.1066-18T=) c.*365-18T= (n.*365-18T=) | |
| 14 | g.94378658A>G | CA615829832 | SERPINA1 | c.1066-18T>C (n.1066-18T>C) c.*365-18T>C (n.*365-18T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378660A= | CA2155953496 | SERPINA1 | c.1066-20T= (n.1066-20T=) c.*365-20T= (n.*365-20T=) | |
| 14 | g.94378660A>G | CA2626279698 | SERPINA1 | c.1066-20T>C (n.1066-20T>C) c.*365-20T>C (n.*365-20T>C) | gnomAD v4 |
| 14 | g.94378660A>T | CA7327296 | SERPINA1 | c.1066-20T>A (n.1066-20T>A) c.*365-20T>A (n.*365-20T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378663C= | CA2155953497 | SERPINA1 | c.1066-23G= (n.1066-23G=) c.*365-23G= (n.*365-23G=) | |
| 14 | g.94378663C>T | CA265860718 | SERPINA1 | c.1066-23G>A (n.1066-23G>A) c.*365-23G>A (n.*365-23G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378664A>G | CA2575614259 | SERPINA1 | c.1066-24T>C (n.1066-24T>C) c.*365-24T>C (n.*365-24T>C) | |
| 14 | g.94378665C>A | CA2155953499 | SERPINA1 | c.1066-25G>T (n.1066-25G>T) c.*365-25G>T (n.*365-25G>T) | dbSNP gnomAD v4 |
| 14 | g.94378665C= | CA2155953500 | SERPINA1 | c.1066-25G= (n.1066-25G=) c.*365-25G= (n.*365-25G=) | |
| 14 | g.94378665C>G | CA615829837 | SERPINA1 | c.1066-25G>C (n.1066-25G>C) c.*365-25G>C (n.*365-25G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378665C>T | CA7327297 | SERPINA1 | c.1066-25G>A (n.1066-25G>A) c.*365-25G>A (n.*365-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378665_94378666delinsCG | CA2155953498 | SERPINA1 | c.1066-26_1066-25delinsCG (n.1066-26_1066-25delinsCG) c.*365-26_*365-25delinsCG (n.*365-26_*365-25delinsCG) | |
| 14 | g.94378666del | CA7327298 | SERPINA1 | c.1066-26del (n.1066-26del) c.*365-26del (n.*365-26del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378666G>A | CA7327299 | SERPINA1 | c.1066-26C>T (n.1066-26C>T) c.*365-26C>T (n.*365-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378666G>C | CA2626279702 | SERPINA1 | c.1066-26C>G (n.1066-26C>G) c.*365-26C>G (n.*365-26C>G) | gnomAD v4 |
| 14 | g.94378666G= | CA2155953501 | SERPINA1 | c.1066-26C= (n.1066-26C=) c.*365-26C= (n.*365-26C=) | |
| 14 | g.94378667T>C | CA2626279703 | SERPINA1 | c.1066-27A>G (n.1066-27A>G) c.*365-27A>G (n.*365-27A>G) | gnomAD v4 |
| 14 | g.94378668del | CA390847965 | SERPINA1 | c.1066-27del (n.1066-27del) c.*365-27del (n.*365-27del) | |
| 14 | g.94378668T= | CA2155953502 | SERPINA1 | c.1066-28A= (n.1066-28A=) c.*365-28A= (n.*365-28A=) | |
| 14 | g.94378668_94378669insCC | CA615829845 | SERPINA1 | c.1066-29_1066-28insGG (n.1066-29_1066-28insGG) c.*365-29_*365-28insGG (n.*365-29_*365-28insGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378669G>A | CA7327300 | SERPINA1 | c.1066-29C>T (n.1066-29C>T) c.*365-29C>T (n.*365-29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378669G= | CA2155953503 | SERPINA1 | c.1066-29C= (n.1066-29C=) c.*365-29C= (n.*365-29C=) | |
| 14 | g.94378669G>T | CA615829849 | SERPINA1 | c.1066-29C>A (n.1066-29C>A) c.*365-29C>A (n.*365-29C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378669_94378671delinsGTA | CA2155953504 | SERPINA1 | c.1066-31_1066-29delinsTAC (n.1066-31_1066-29delinsTAC) c.*365-31_*365-29delinsTAC (n.*365-31_*365-29delinsTAC) | |
| 14 | g.94378670T>C | CA2626279706 | SERPINA1 | c.1066-30A>G (n.1066-30A>G) c.*365-30A>G (n.*365-30A>G) | gnomAD v4 |
| 14 | g.94378670_94378671del | CA615829851 | SERPINA1 | c.1066-31_1066-30del (n.1066-31_1066-30del) c.*365-31_*365-30del (n.*365-31_*365-30del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |