Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94380863G>A | CA2626280933 | SERPINA1 | c.917+8C>T (n.917+8C>T) c.*4C>T (n.*4C>T) | dbSNP gnomAD v4 |
14 | g.94380863G= | CA2155953831 | SERPINA1 | c.917+8C= (n.917+8C=) c.*4C= (n.*4C=) | |
14 | g.94380863G>T | CA710095467 | SERPINA1 | c.917+8C>A (n.917+8C>A) c.*4C>A (n.*4C>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94380864G>A | CA7327376 | SERPINA1 | c.917+7C>T (n.917+7C>T) c.*3C>T (n.*3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380864G= | CA2155953832 | SERPINA1 | c.917+7C= (n.917+7C=) c.*3C= (n.*3C=) | |
14 | g.94380864G>T | CA2626280936 | SERPINA1 | c.917+7C>A (n.917+7C>A) c.*3C>A (n.*3C>A) | gnomAD v4 |
14 | g.94380865A= | CA2155953833 | SERPINA1 | c.917+6T= (n.917+6T=) c.*2T= (n.*2T=) | |
14 | g.94380865A>T | CA966133745 | SERPINA1 | c.917+6T>A (n.917+6T>A) c.*2T>A (n.*2T>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94380868C= | CA2155953834 | SERPINA1 | c.917+3G= (n.917+3G=) c.920G= (p.Ter307=) | |
14 | g.94380868C>G | CA265863739 | SERPINA1 | c.917+3G>C (n.917+3G>C) c.920G>C (p.Ter307Ser) | dbSNP |
14 | g.94380868C>T | CA2626280938 | SERPINA1 | c.917+3G>A (n.917+3G>A) c.920G>A (p.Ter307=) | gnomAD v4 |
14 | g.94380869A>C | CA390848293 | SERPINA1 | c.917+2T>G (n.917+2T>G) c.919T>G (p.Ter307Gly) | |
14 | g.94380869A>G | CA390848294 | SERPINA1 | c.917+2T>C (n.917+2T>C) c.919T>C (p.Ter307Arg) | |
14 | g.94380869A>T | CA390848295 | SERPINA1 | c.917+2T>A (n.917+2T>A) c.919T>A (p.Ter307Arg) | |
14 | g.94380870C>A | CA390848296 | SERPINA1 | c.917+1G>T (n.917+1G>T) c.918G>T (p.Arg306Ser) | |
14 | g.94380870C= | CA2155953836 | SERPINA1 | c.917+1G= (n.917+1G=) c.918G= (p.Arg306=) | |
14 | g.94380870C>G | CA390848297 | SERPINA1 | c.917+1G>C (n.917+1G>C) c.918G>C (p.Arg306Ser) | |
14 | g.94380870C>T | CA7327378 | SERPINA1 | c.917+1G>A (n.917+1G>A) c.918G>A (p.Arg306=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380870_94380873delinsCCTT | CA2155953835 | SERPINA1 | c.915_917+1delinsAAGG c.915_918delinsAAGG (p.Arg305=) | |
14 | g.94380871C>A | CA390848298 | SERPINA1 | c.917G>T (p.Arg306Met) | |
14 | g.94380871C>G | CA390848299 | SERPINA1 | c.917G>C (p.Arg306Thr) | |
14 | g.94380871C>T | CA390848300 | SERPINA1 | c.917G>A (p.Arg306Lys) | |
14 | g.94380873_94380875del | CA7327377 | SERPINA1 | c.915_917del (p.Arg306del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380872T>A | CA390848302 | SERPINA1 | c.916A>T (p.Arg306Trp) | |
14 | g.94380872T>C | CA390848301 | SERPINA1 | c.916A>G (p.Arg306Gly) | gnomAD v4 |
14 | g.94380872T>G | CA487840908 | SERPINA1 | c.916A>C (p.Arg306=) | |
14 | g.94380873T>A | CA390848303 | SERPINA1 | c.915A>T (p.Arg305Ser) | |
14 | g.94380873T>C | CA487840909 | SERPINA1 | c.915A>G (p.Arg305=) | |
14 | g.94380873T>G | CA390848304 | SERPINA1 | c.915A>C (p.Arg305Ser) | |
14 | g.94380874_94380875del | CA2695219656 | SERPINA1 | c.914_915del (p.Arg305LysfsTer17) | |
14 | g.94380874C>A | CA390848305 | SERPINA1 | c.914G>T (p.Arg305Ile) | |
14 | g.94380874C>G | CA390848306 | SERPINA1 | c.914G>C (p.Arg305Thr) | |
14 | g.94380874C>T | CA390848307 | SERPINA1 | c.914G>A (p.Arg305Lys) | |
14 | g.94380875T>A | CA390848308 | SERPINA1 | c.913A>T (p.Arg305Ter) | |
14 | g.94380875T>C | CA390848309 | SERPINA1 | c.913A>G (p.Arg305Gly) | |
14 | g.94380875T>G | CA487840910 | SERPINA1 | c.913A>C (p.Arg305=) | |
14 | g.94380876G>A | CA487840911 | SERPINA1 | c.912C>T (p.Asp304=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94380876G>C | CA390848310 | SERPINA1 | c.912C>G (p.Asp304Glu) | |
14 | g.94380876G= | CA2155953837 | SERPINA1 | c.912C= (p.Asp304=) | |
14 | g.94380876G>T | CA390848311 | SERPINA1 | c.912C>A (p.Asp304Glu) | |
14 | g.94380877T>A | CA390848312 | SERPINA1 | c.911A>T (p.Asp304Val) | |
14 | g.94380877T>C | CA390848313 | SERPINA1 | c.911A>G (p.Asp304Gly) | gnomAD v4 |
14 | g.94380877T>G | CA390848314 | SERPINA1 | c.911A>C (p.Asp304Ala) | |
14 | g.94380879_94380881dup | CA2802663860 | SERPINA1 | c.909_911dup (p.Glu303_Asp304insGlu) | |
14 | g.94380878C>A | CA390848316 | SERPINA1 | c.910G>T (p.Asp304Tyr) | |
14 | g.94380878C= | CA2155953838 | SERPINA1 | c.910G= (p.Asp304=) | |
14 | g.94380878C>G | CA390848315 | SERPINA1 | c.910G>C (p.Asp304His) | |
14 | g.94380878C>T | CA265863741 | SERPINA1 | c.910G>A (p.Asp304Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380879T>A | CA390848317 | SERPINA1 | c.909A>T (p.Glu303Asp) | |
14 | g.94380879T>C | CA487840913 | SERPINA1 | c.909A>G (p.Glu303=) |