| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378561_94378568delinsATGGGTAT | CA2155953423 | SERPINA1 | c.1138_1145delinsATACCCAT (p.Ile380=) c.*437_*444delinsATACCCAT (n.*437_*444delinsATACCCAT) | |
| 14 | g.94378562_94378568del | CA616114981 | SERPINA1 | c.1138_1144del (p.Ile380CysfsTer16) c.*437_*443del (n.*437_*443del) | dbSNP gnomAD |
| 14 | g.94378567A>C | CA390847707 | SERPINA1 | c.1139T>G (p.Ile380Arg) c.*438T>G (n.*438T>G) | |
| 14 | g.94378567A>G | CA390847709 | SERPINA1 | c.1139T>C (p.Ile380Thr) c.*438T>C (n.*438T>C) | ClinVar |
| 14 | g.94378567A>T | CA390847711 | SERPINA1 | c.1139T>A (p.Ile380Lys) c.*438T>A (n.*438T>A) | |
| 14 | g.94378568T>A | CA390847713 | SERPINA1 | c.1138A>T (p.Ile380Leu) c.*437A>T (n.*437A>T) | |
| 14 | g.94378568T>C | CA390847716 | SERPINA1 | c.1138A>G (p.Ile380Val) c.*437A>G (n.*437A>G) | gnomAD |
| 14 | g.94378568T>G | CA390847718 | SERPINA1 | c.1138A>C (p.Ile380Leu) c.*437A>C (n.*437A>C) | |
| 14 | g.94378568T= | CA2155953425 | SERPINA1 | c.1138A= (p.Ile380=) c.*437A= (n.*437A=) | |
| 14 | g.94378569G>A | CA487621148 | SERPINA1 | c.1137C>T (p.Ala379=) c.*436C>T (n.*436C>T) | |
| 14 | g.94378569G>C | CA487621147 | SERPINA1 | c.1137C>G (p.Ala379=) c.*436C>G (n.*436C>G) | |
| 14 | g.94378569G>T | CA487621146 | SERPINA1 | c.1137C>A (p.Ala379=) c.*436C>A (n.*436C>A) | |
| 14 | g.94378570G>A | CA390847719 | SERPINA1 | c.1136C>T (p.Ala379Val) c.*435C>T (n.*435C>T) | gnomAD |
| 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 |
| 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) | |
| 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 |
| 14 | g.94378572del | CA710093451 | SERPINA1 | c.1135del (p.Ala379ProfsTer19) c.*434del (n.*434del) | dbSNP |
| 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 |
| 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 |
| 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 |
| 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) | |
| 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 |
| 14 | g.94378580dup | CA7327268 | SERPINA1 | c.1130dup (p.Leu377PhefsTer24) c.*429dup (n.*429dup) | ClinVar dbSNP dbSNP ExAC gnomAD |
| 14 | g.94378580del | CA7327267 | SERPINA1 | c.1130del (p.Leu377Ter) c.*429del (n.*429del) | dbSNP ExAC gnomAD 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) |