Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94378524A>C | CA390847559 | SERPINA1 | c.1182T>G (p.Phe394Leu) c.*481T>G (n.*481T>G) | |
14 | g.94378524A>G | CA487621120 | SERPINA1 | c.1182T>C (p.Phe394=) c.*481T>C (n.*481T>C) | |
14 | g.94378524A>T | CA390847560 | SERPINA1 | c.1182T>A (p.Phe394Leu) c.*481T>A (n.*481T>A) | COSMIC |
14 | g.94378526del | CA2626279489 | SERPINA1 | c.1182del (p.Phe394LeufsTer4) c.*481del (n.*481del) | gnomAD v4 |
14 | g.94378525A>C | CA390847561 | SERPINA1 | c.1181T>G (p.Phe394Cys) c.*480T>G (n.*480T>G) | |
14 | g.94378525A>G | CA390847562 | SERPINA1 | c.1181T>C (p.Phe394Ser) c.*480T>C (n.*480T>C) | |
14 | g.94378525A>T | CA390847563 | SERPINA1 | c.1181T>A (p.Phe394Tyr) c.*480T>A (n.*480T>A) | |
14 | g.94378526A>C | CA390847564 | SERPINA1 | c.1180T>G (p.Phe394Val) c.*479T>G (n.*479T>G) | |
14 | g.94378526A>G | CA390847565 | SERPINA1 | c.1180T>C (p.Phe394Leu) c.*479T>C (n.*479T>C) | |
14 | g.94378526A>T | CA390847566 | SERPINA1 | c.1180T>A (p.Phe394Ile) c.*479T>A (n.*479T>A) | |
14 | g.94378527G>A | CA7327254 | SERPINA1 | c.1179C>T (p.Pro393=) c.*478C>T (n.*478C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378527G>C | CA487621125 | SERPINA1 | c.1179C>G (p.Pro393=) c.*478C>G (n.*478C>G) | gnomAD v4 |
14 | g.94378527G= | CA2155953402 | SERPINA1 | c.1179C= (p.Pro393=) c.*478C= (n.*478C=) | |
14 | g.94378527G>T | CA487621123 | SERPINA1 | c.1179C>A (p.Pro393=) c.*478C>A (n.*478C>A) | |
14 | g.94378527_94378528delinsAA | CA645582231 | SERPINA1 | c.1178_1179delinsTT (p.Pro393Leu) c.*477_*478delinsTT (n.*477_*478delinsTT) | COSMIC |
14 | g.94378529del | CA2695199864 | SERPINA1 | c.1179del (p.Phe394LeufsTer4) c.*478del (n.*478del) | ClinVar |
14 | g.94378528G>A | CA127662 | SERPINA1 | c.1178C>T (p.Pro393Leu) c.*477C>T (n.*477C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378528G>C | CA265860619 | SERPINA1 | c.1178C>G (p.Pro393Arg) c.*477C>G (n.*477C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94378528G= | CA2155953403 | SERPINA1 | c.1178C= (p.Pro393=) c.*477C= (n.*477C=) | |
14 | g.94378528G>T | CA7327255 | SERPINA1 | c.1178C>A (p.Pro393His) c.*477C>A (n.*477C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94378529G>A | CA7327256 | SERPINA1 | c.1177C>T (p.Pro393Ser) c.*476C>T (n.*476C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378529G>C | CA390847567 | SERPINA1 | c.1177C>G (p.Pro393Ala) c.*476C>G (n.*476C>G) | gnomAD v4 |
14 | g.94378529G= | CA2155953404 | SERPINA1 | c.1177C= (p.Pro393=) c.*476C= (n.*476C=) | |
14 | g.94378529G>T | CA350451 | SERPINA1 | c.1177C>A (p.Pro393Thr) c.*476C>A (n.*476C>A) | ClinVar dbSNP gnomAD v4 |
14 | g.94378530T>A | CA390847568 | SERPINA1 | c.1176A>T (p.Lys392Asn) c.*475A>T (n.*475A>T) | |
14 | g.94378530T>C | CA487621126 | SERPINA1 | c.1176A>G (p.Lys392=) c.*475A>G (n.*475A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94378530T>G | CA390847569 | SERPINA1 | c.1176A>C (p.Lys392Asn) c.*475A>C (n.*475A>C) | COSMIC |
14 | g.94378530T= | CA2155953405 | SERPINA1 | c.1176A= (p.Lys392=) c.*475A= (n.*475A=) | |
14 | g.94378531T>A | CA390847570 | SERPINA1 | c.1175A>T (p.Lys392Ile) c.*474A>T (n.*474A>T) | |
14 | g.94378531T>C | CA390847571 | SERPINA1 | c.1175A>G (p.Lys392Arg) c.*474A>G (n.*474A>G) | gnomAD v2 |
14 | g.94378531T>G | CA390847572 | SERPINA1 | c.1175A>C (p.Lys392Thr) c.*474A>C (n.*474A>C) | |
14 | g.94378532T>A | CA390847573 | SERPINA1 | c.1174A>T (p.Lys392Ter) c.*473A>T (n.*473A>T) | |
14 | g.94378532T>C | CA390847574 | SERPINA1 | c.1174A>G (p.Lys392Glu) c.*473A>G (n.*473A>G) | |
14 | g.94378532T>G | CA390847575 | SERPINA1 | c.1174A>C (p.Lys392Gln) c.*473A>C (n.*473A>C) | gnomAD v2 gnomAD v4 |
14 | g.94378533G>A | CA265860623 | SERPINA1 | c.1173C>T (p.Asn391=) c.*472C>T (n.*472C>T) | dbSNP gnomAD v4 |
14 | g.94378533G>C | CA390847576 | SERPINA1 | c.1173C>G (p.Asn391Lys) c.*472C>G (n.*472C>G) | |
14 | g.94378533G= | CA2155953406 | SERPINA1 | c.1173C= (p.Asn391=) c.*472C= (n.*472C=) | |
14 | g.94378533G>T | CA390847577 | SERPINA1 | c.1173C>A (p.Asn391Lys) c.*472C>A (n.*472C>A) | |
14 | g.94378534T>A | CA390847578 | SERPINA1 | c.1172A>T (p.Asn391Ile) c.*471A>T (n.*471A>T) | |
14 | g.94378534T>C | CA390847579 | SERPINA1 | c.1172A>G (p.Asn391Ser) c.*471A>G (n.*471A>G) | |
14 | g.94378534T>G | CA390847580 | SERPINA1 | c.1172A>C (p.Asn391Thr) c.*471A>C (n.*471A>C) | |
14 | g.94378535T>A | CA390847583 | SERPINA1 | c.1171A>T (p.Asn391Tyr) c.*470A>T (n.*470A>T) | |
14 | g.94378535T>C | CA390847581 | SERPINA1 | c.1171A>G (p.Asn391Asp) c.*470A>G (n.*470A>G) | |
14 | g.94378535T>G | CA390847582 | SERPINA1 | c.1171A>C (p.Asn391His) c.*470A>C (n.*470A>C) | |
14 | g.94378536G>A | CA487621127 | SERPINA1 | c.1170C>T (p.Phe390=) c.*469C>T (n.*469C>T) | |
14 | g.94378536G>C | CA390847584 | SERPINA1 | c.1170C>G (p.Phe390Leu) c.*469C>G (n.*469C>G) | |
14 | g.94378536G>T | CA390847585 | SERPINA1 | c.1170C>A (p.Phe390Leu) c.*469C>A (n.*469C>A) | |
14 | g.94378537A>C | CA390847586 | SERPINA1 | c.1169T>G (p.Phe390Cys) c.*468T>G (n.*468T>G) | |
14 | g.94378537A>G | CA390847587 | SERPINA1 | c.1169T>C (p.Phe390Ser) c.*468T>C (n.*468T>C) | |
14 | g.94378537A>T | CA390847588 | SERPINA1 | c.1169T>A (p.Phe390Tyr) c.*468T>A (n.*468T>A) | |
14 | g.94378538A>C | CA390847589 | SERPINA1 | c.1168T>G (p.Phe390Val) c.*467T>G (n.*467T>G) | |
14 | g.94378538A>G | CA390847590 | SERPINA1 | c.1168T>C (p.Phe390Leu) c.*467T>C (n.*467T>C) | |
14 | g.94378538A>T | CA390847591 | SERPINA1 | c.1168T>A (p.Phe390Ile) c.*467T>A (n.*467T>A) | |
14 | g.94378539C>A | CA390847592 | SERPINA1 | c.1167G>T (p.Lys389Asn) c.*466G>T (n.*466G>T) | |
14 | g.94378539C>G | CA390847593 | SERPINA1 | c.1167G>C (p.Lys389Asn) c.*466G>C (n.*466G>C) | |
14 | g.94378539C>T | CA487621128 | SERPINA1 | c.1167G>A (p.Lys389=) c.*466G>A (n.*466G>A) | gnomAD v4 |
14 | g.94378540T>A | CA390847594 | SERPINA1 | c.1166A>T (p.Lys389Met) c.*465A>T (n.*465A>T) | |
14 | g.94378540T>C | CA390847595 | SERPINA1 | c.1166A>G (p.Lys389Arg) c.*465A>G (n.*465A>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94378540T>G | CA390847596 | SERPINA1 | c.1166A>C (p.Lys389Thr) c.*465A>C (n.*465A>C) | |
14 | g.94378540T= | CA2155953407 | SERPINA1 | c.1166A= (p.Lys389=) c.*465A= (n.*465A=) | |
14 | g.94378541T>A | CA390847598 | SERPINA1 | c.1165A>T (p.Lys389Ter) c.*464A>T (n.*464A>T) | |
14 | g.94378541T>C | CA390847599 | SERPINA1 | c.1165A>G (p.Lys389Glu) c.*464A>G (n.*464A>G) | |
14 | g.94378541T>G | CA390847597 | SERPINA1 | c.1165A>C (p.Lys389Gln) c.*464A>C (n.*464A>C) | |
14 | g.94378542G>A | CA487621129 | SERPINA1 | c.1164C>T (p.Val388=) c.*463C>T (n.*463C>T) | |
14 | g.94378542G>C | CA487621130 | SERPINA1 | c.1164C>G (p.Val388=) c.*463C>G (n.*463C>G) | |
14 | g.94378542G>T | CA487621131 | SERPINA1 | c.1164C>A (p.Val388=) c.*463C>A (n.*463C>A) | |
14 | g.94378543A>C | CA390847601 | SERPINA1 | c.1163T>G (p.Val388Gly) c.*462T>G (n.*462T>G) | |
14 | g.94378543A>G | CA390847600 | SERPINA1 | c.1163T>C (p.Val388Ala) c.*462T>C (n.*462T>C) | |
14 | g.94378543A>T | CA390847602 | SERPINA1 | c.1163T>A (p.Val388Asp) c.*462T>A (n.*462T>A) | |
14 | g.94378544C>A | CA390847603 | SERPINA1 | c.1162G>T (p.Val388Phe) c.*461G>T (n.*461G>T) | gnomAD v4 |
14 | g.94378544C= | CA2155953408 | SERPINA1 | c.1162G= (p.Val388=) c.*461G= (n.*461G=) | |
14 | g.94378544C>G | CA390847605 | SERPINA1 | c.1162G>C (p.Val388Leu) c.*461G>C (n.*461G>C) | dbSNP gnomAD v2 |
14 | g.94378544C>T | CA390847604 | SERPINA1 | c.1162G>A (p.Val388Ile) c.*461G>A (n.*461G>A) | |
14 | g.94378544_94378545insTGT | CA616114974 | SERPINA1 | c.1161_1162insACA (p.Glu387_Val388insThr) c.*460_*461insACA (n.*460_*461insACA) | dbSNP gnomAD v2 |
14 | g.94378545C>A | CA390847606 | SERPINA1 | c.1161G>T (p.Glu387Asp) c.*460G>T (n.*460G>T) | |
14 | g.94378545C= | CA2155953409 | SERPINA1 | c.1161G= (p.Glu387=) c.*460G= (n.*460G=) | |
14 | g.94378545C>G | CA390847607 | SERPINA1 | c.1161G>C (p.Glu387Asp) c.*460G>C (n.*460G>C) | |
14 | g.94378545C>T | CA487621132 | SERPINA1 | c.1161G>A (p.Glu387=) c.*460G>A (n.*460G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94378546T>A | CA390847608 | SERPINA1 | c.1160A>T (p.Glu387Val) c.*459A>T (n.*459A>T) | |
14 | g.94378546T>C | CA390847610 | SERPINA1 | c.1160A>G (p.Glu387Gly) c.*459A>G (n.*459A>G) | gnomAD v4 |
14 | g.94378546T>G | CA390847609 | SERPINA1 | c.1160A>C (p.Glu387Ala) c.*459A>C (n.*459A>C) | |
14 | g.94378546_94378553delinsTCGGGGGG | CA2155953410 | SERPINA1 | c.1153_1160delinsCCCCCCGA (p.Pro385=) c.*452_*459delinsCCCCCCGA (n.*452_*459delinsCCCCCCGA) | |
14 | g.94378546_94378547insG | CA645582232 | SERPINA1 | c.1159_1160insC (p.Glu387AlafsTer14) c.*458_*459insC (n.*458_*459insC) | COSMIC |
14 | g.94378547C>A | CA390847611 | SERPINA1 | c.1159G>T (p.Glu387Ter) c.*458G>T (n.*458G>T) | dbSNP |
14 | g.94378547C= | CA2155953411 | SERPINA1 | c.1159G= (p.Glu387=) c.*458G= (n.*458G=) | |
14 | g.94378547C>G | CA390847612 | SERPINA1 | c.1159G>C (p.Glu387Gln) c.*458G>C (n.*458G>C) | gnomAD v4 |
14 | g.94378547C>T | CA127650 | SERPINA1 | c.1159G>A (p.Glu387Lys) c.*458G>A (n.*458G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94378547_94378548delinsCG | CA2155953412 | SERPINA1 | c.1158_1159delinsCG (p.Pro386=) c.*457_*458delinsCG (n.*457_*458delinsCG) | |
14 | g.94378547_94378553del | CA616114975 | SERPINA1 | c.1153_1159del (p.Pro385ArgfsTer11) c.*452_*458del (n.*452_*458del) | dbSNP gnomAD v2 |
14 | g.94378548G>A | CA7327258 | SERPINA1 | c.1158C>T (p.Pro386=) c.*457C>T (n.*457C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378548G>C | CA487621134 | SERPINA1 | c.1158C>G (p.Pro386=) c.*457C>G (n.*457C>G) | gnomAD v4 |
14 | g.94378548G= | CA2155953413 | SERPINA1 | c.1158C= (p.Pro386=) c.*457C= (n.*457C=) | |
14 | g.94378548G>T | CA487621133 | SERPINA1 | c.1158C>A (p.Pro386=) c.*457C>A (n.*457C>A) | |
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]) | |
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.94378549G>A | CA265860630 | SERPINA1 | c.1157C>T (p.Pro386Leu) c.*456C>T (n.*456C>T) | dbSNP |
14 | g.94378549G>C | CA390847616 | SERPINA1 | c.1157C>G (p.Pro386Arg) c.*456C>G (n.*456C>G) | ClinVar |
14 | g.94378549G= | CA2155953414 | SERPINA1 | c.1157C= (p.Pro386=) c.*456C= (n.*456C=) | |
14 | g.94378549G>T | CA265860632 | SERPINA1 | c.1157C>A (p.Pro386His) c.*456C>A (n.*456C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94378550G>A | CA7327261 | SERPINA1 | c.1156C>T (p.Pro386Ser) c.*455C>T (n.*455C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378550G>C | CA7327259 | SERPINA1 | c.1156C>G (p.Pro386Ala) c.*455C>G (n.*455C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378550G= | CA2155953415 | SERPINA1 | c.1156C= (p.Pro386=) c.*455C= (n.*455C=) | |
14 | g.94378550G>T | CA7327260 | SERPINA1 | c.1156C>A (p.Pro386Thr) c.*455C>A (n.*455C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378550_94378551delinsCA | CA2697554189 | SERPINA1 | c.1155_1156delinsTG (p.Pro386Ala) c.*454_*455delinsTG (n.*454_*455delinsTG) | ClinVar |
14 | g.94378551G>A | CA7327262 | SERPINA1 | c.1155C>T (p.Pro385=) c.*454C>T (n.*454C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378551G>C | CA487621135 | SERPINA1 | c.1155C>G (p.Pro385=) c.*454C>G (n.*454C>G) | |
14 | g.94378551G= | CA2155953416 | SERPINA1 | c.1155C= (p.Pro385=) c.*454C= (n.*454C=) | |
14 | g.94378551G>T | CA487621136 | SERPINA1 | c.1155C>A (p.Pro385=) c.*454C>A (n.*454C>A) | |
14 | g.94378552G>A | CA390847626 | SERPINA1 | c.1154C>T (p.Pro385Leu) c.*453C>T (n.*453C>T) | gnomAD v4 |
14 | g.94378552G>C | CA390847628 | SERPINA1 | c.1154C>G (p.Pro385Arg) c.*453C>G (n.*453C>G) | gnomAD v4 |
14 | g.94378552G>T | CA390847631 | SERPINA1 | c.1154C>A (p.Pro385His) c.*453C>A (n.*453C>A) | |
14 | g.94378553G>A | CA265860638 | SERPINA1 | c.1153C>T (p.Pro385Ser) c.*452C>T (n.*452C>T) | dbSNP gnomAD v4 |
14 | g.94378553G>C | CA390847635 | SERPINA1 | c.1153C>G (p.Pro385Ala) c.*452C>G (n.*452C>G) | dbSNP gnomAD v4 |
14 | g.94378553G= | CA2155953417 | SERPINA1 | c.1153C= (p.Pro385=) c.*452C= (n.*452C=) | |
14 | g.94378553G>T | CA390847637 | SERPINA1 | c.1153C>A (p.Pro385Thr) c.*452C>A (n.*452C>A) | dbSNP |
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) | |
14 | g.94378566T>C | CA390847704 | SERPINA1 | c.1140A>G (p.Ile380Met) c.*439A>G (n.*439A>G) | |
14 | g.94378566T>G | CA487621145 | SERPINA1 | c.1140A>C (p.Ile380=) c.*439A>C (n.*439A>C) | |
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) | dbSNP gnomAD v2 gnomAD v4 |
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) | 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.94378573_94378574insAT | CA2831039471 | SERPINA1 | c.1133_1134insTA (p.Glu378AspfsTer21) c.*432_*433insTA (n.*432_*433insTA) | |
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]) | |
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) |