Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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) |