Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94378554dup | CA274031 | SERPINA1 | c.1158dup (p.Glu387ArgfsTer14) c.*457dup (n.*457dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.[94378554dup;94380925T>A] | CA913203353 | SERPINA1 | c.[863A>T;1158dup] (p.[Glu288Val;Glu387ArgfsTer14]) c.[863A>T;*457dup] ([p.Glu288Val;n.*457dup]) | ClinVar |
14 | g.94378554del | CA7327257 | SERPINA1 | c.1158del (p.Glu387ArgfsTer11) c.*457del (n.*457del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94378554G>A | CA265860640 | SERPINA1 | c.1152C>T (p.Ile384=) c.*451C>T (n.*451C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94378554G>C | CA390847640 | SERPINA1 | c.1152C>G (p.Ile384Met) c.*451C>G (n.*451C>G) | dbSNP gnomAD v4 |
14 | g.94378554G= | CA2155953418 | SERPINA1 | c.1152C= (p.Ile384=) c.*451C= (n.*451C=) | |
14 | g.94378554G>T | CA487621137 | SERPINA1 | c.1152C>A (p.Ile384=) c.*451C>A (n.*451C>A) | dbSNP |
14 | g.94378555A= | CA2155953419 | SERPINA1 | c.1151T= (p.Ile384=) c.*450T= (n.*450T=) | |
14 | g.94378555A>C | CA390847645 | SERPINA1 | c.1151T>G (p.Ile384Ser) c.*450T>G (n.*450T>G) | |
14 | g.94378555A>G | CA390847647 | SERPINA1 | c.1151T>C (p.Ile384Thr) c.*450T>C (n.*450T>C) | |
14 | g.94378555A>T | CA390847649 | SERPINA1 | c.1151T>A (p.Ile384Asn) c.*450T>A (n.*450T>A) | |
14 | g.94378556T>A | CA390847652 | SERPINA1 | c.1150A>T (p.Ile384Phe) c.*449A>T (n.*449A>T) | |
14 | g.94378556T>C | CA390847654 | SERPINA1 | c.1150A>G (p.Ile384Val) c.*449A>G (n.*449A>G) | |
14 | g.94378556T>G | CA390847656 | SERPINA1 | c.1150A>C (p.Ile384Leu) c.*449A>C (n.*449A>C) | |
14 | g.94378557_94378558insCTTA | CA616114979 | SERPINA1 | c.1150_1151insAGTA (p.Ile384LysfsTer18) c.*449_*450insAGTA (n.*449_*450insAGTA) | dbSNP gnomAD v2 |
14 | g.94378557A>C | CA487621138 | SERPINA1 | c.1149T>G (p.Ser383=) c.*448T>G (n.*448T>G) | |
14 | g.94378557A>G | CA487621139 | SERPINA1 | c.1149T>C (p.Ser383=) c.*448T>C (n.*448T>C) | |
14 | g.94378557A>T | CA487621140 | SERPINA1 | c.1149T>A (p.Ser383=) c.*448T>A (n.*448T>A) | |
14 | g.94378558G>A | CA390847660 | SERPINA1 | c.1148C>T (p.Ser383Phe) c.*447C>T (n.*447C>T) | |
14 | g.94378558G>C | CA390847661 | SERPINA1 | c.1148C>G (p.Ser383Cys) c.*447C>G (n.*447C>G) | |
14 | g.94378558G>T | CA390847664 | SERPINA1 | c.1148C>A (p.Ser383Tyr) c.*447C>A (n.*447C>A) | COSMIC |
14 | g.94378559A= | CA2155953420 | SERPINA1 | c.1147T= (p.Ser383=) c.*446T= (n.*446T=) | |
14 | g.94378559A>C | CA7327263 | SERPINA1 | c.1147T>G (p.Ser383Ala) c.*446T>G (n.*446T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378559A>G | CA390847668 | SERPINA1 | c.1147T>C (p.Ser383Pro) c.*446T>C (n.*446T>C) | |
14 | g.94378559A>T | CA390847670 | SERPINA1 | c.1147T>A (p.Ser383Thr) c.*446T>A (n.*446T>A) | |
14 | g.94378560C>A | CA390847673 | SERPINA1 | c.1146G>T (p.Met382Ile) c.*445G>T (n.*445G>T) | |
14 | g.94378560C= | CA2155953421 | SERPINA1 | c.1146G= (p.Met382=) c.*445G= (n.*445G=) | |
14 | g.94378560C>G | CA390847676 | SERPINA1 | c.1146G>C (p.Met382Ile) c.*445G>C (n.*445G>C) | |
14 | g.94378560C>T | CA7327264 | SERPINA1 | c.1146G>A (p.Met382Ile) c.*445G>A (n.*445G>A) | dbSNP ExAC gnomAD v2 |
14 | g.94378560dup | CA616114980 | SERPINA1 | c.1146dup (p.Ser383ValfsTer18) c.*445dup (n.*445dup) | dbSNP gnomAD v2 |
14 | g.94378561A= | CA2155953422 | SERPINA1 | c.1145T= (p.Met382=) c.*444T= (n.*444T=) | |
14 | g.94378561A>C | CA127707 | SERPINA1 | c.1145T>G (p.Met382Arg) c.*444T>G (n.*444T>G) | ClinVar dbSNP |
14 | g.94378561A>G | CA390847680 | SERPINA1 | c.1145T>C (p.Met382Thr) c.*444T>C (n.*444T>C) | dbSNP |
14 | g.94378561A>T | CA390847681 | SERPINA1 | c.1145T>A (p.Met382Lys) c.*444T>A (n.*444T>A) | |
14 | g.94378561_94378568delinsATGGGTAT | CA2155953423 | SERPINA1 | c.1138_1145delinsATACCCAT (p.Ile380=) c.*437_*444delinsATACCCAT (n.*437_*444delinsATACCCAT) | |
14 | g.94378562T>A | CA265860645 | SERPINA1 | c.1144A>T (p.Met382Leu) c.*443A>T (n.*443A>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94378562T>C | CA390847684 | SERPINA1 | c.1144A>G (p.Met382Val) c.*443A>G (n.*443A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378562T>G | CA390847687 | SERPINA1 | c.1144A>C (p.Met382Leu) c.*443A>C (n.*443A>C) | gnomAD v4 |
14 | g.94378562T= | CA2155953424 | SERPINA1 | c.1144A= (p.Met382=) c.*443A= (n.*443A=) | |
14 | g.94378562_94378568del | CA616114981 | SERPINA1 | c.1138_1144del (p.Ile380CysfsTer16) c.*437_*443del (n.*437_*443del) | dbSNP gnomAD v2 |
14 | g.94378563G>A | CA487621141 | SERPINA1 | c.1143C>T (p.Pro381=) c.*442C>T (n.*442C>T) | gnomAD v4 |
14 | g.94378563G>C | CA487621142 | SERPINA1 | c.1143C>G (p.Pro381=) c.*442C>G (n.*442C>G) | |
14 | g.94378563G>T | CA487621143 | SERPINA1 | c.1143C>A (p.Pro381=) c.*442C>A (n.*442C>A) | |
14 | g.94378564G>A | CA390847690 | SERPINA1 | c.1142C>T (p.Pro381Leu) c.*441C>T (n.*441C>T) | |
14 | g.94378564G>C | CA390847692 | SERPINA1 | c.1142C>G (p.Pro381Arg) c.*441C>G (n.*441C>G) | |
14 | g.94378564G>T | CA390847694 | SERPINA1 | c.1142C>A (p.Pro381His) c.*441C>A (n.*441C>A) | gnomAD v4 |
14 | g.94378565G>A | CA390847697 | SERPINA1 | c.1141C>T (p.Pro381Ser) c.*440C>T (n.*440C>T) | |
14 | g.94378565G>C | CA390847699 | SERPINA1 | c.1141C>G (p.Pro381Ala) c.*440C>G (n.*440C>G) | |
14 | g.94378565G>T | CA390847701 | SERPINA1 | c.1141C>A (p.Pro381Thr) c.*440C>A (n.*440C>A) | |
14 | g.94378566T>A | CA487621144 | SERPINA1 | c.1140A>T (p.Ile380=) c.*439A>T (n.*439A>T) |