Unique variants in the SERPINA1 gene

Information The variants shown are described using the NM_001127701.1 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/? 1 1 c.-458C>T r.(=) p.(=) - VUS g.94856914G>A g.94390577G>A - - SERPINA1_000058 - PubMed: Chappell 2006 - rs8004738 Unknown - - - - - George Patrinos
+/+ 1 1i c.-301+1G>A r.0 p.? - pathogenic g.94856756C>T g.94390419C>T IVS1C+1G->A | IVS1C+1G->A / Name: QO-Porto - SERPINA1_000057 - PubMed: Seixas 2002 - - Unknown - - - - - George Patrinos
?/? 1 1i c.-301+100C>T r.(=) p.(=) - VUS g.94856657G>A g.94390320G>A - - SERPINA1_000056 - PubMed: Chappell 2006 - rs17751769 Unknown - - - - - George Patrinos
+/+, -/-, ?/? 29 0 c.? r.(?), r.= p.? - benign, pathogenic, VUS g.? - g.? / Name: B, g.? / Name: E-Cincinnati, g.? / Name: E-Franklin, g.? / Name: E-Lemberg, g.? / Name: L, 24 more items - SERPINA1_000009 - PubMed: 311584, PubMed: 69822187, PubMed: Chaabani 1984, PubMed: Cox 1981, PubMed: Cox 1989, 14 more items - - Unknown - - - - - George Patrinos
+/+ 1 4 c.1G>T r.0 p.? - pathogenic g.94849574C>A g.94383237C>A c.1G>T | 164-191del | c.1G>T / Name: QO-West - SERPINA1_000055 1 more item PubMed: Laubach 1993 - - Unknown - - - - - George Patrinos
?/? 1 4 c.17C>T r.(?) p.(Ser6Leu) - VUS g.94849558G>A g.94383221G>A g.7332C>T | S6L / Name: Z-Wrexham - SERPINA1_000054 - PubMed: Graham 1990 - - Unknown - - - - - George Patrinos
-/- 1 4 c.77A>C r.= p.(Asp26Ala) - benign g.94849498T>G g.94383161T>G g.7392A>C | D26A / Name: V-Munich - SERPINA1_000046 - PubMed: Holmes 1990 - - Unknown - - - - - George Patrinos
+/+, -?/. 2 4 c.115C>A r.(?) p.(His39Asn) - likely benign, pathogenic g.94849460G>T g.94383123G>T c.115C-A | H39N, SERPINA1(NM_001127701.1):c.115C>A (p.H39N) - SERPINA1_000045 VKGL data sharing initiative Nederland PubMed: Mahadeva 2000 - - CLASSIFICATION record, Unknown - - - - - George Patrinos, VKGL-NL_Groningen
-/- 1 4 c.128A>C r.= p.(Asp43Ala) - benign g.94849447T>G g.94383110T>G g.7443A>C | D43A / Name: P-Yonago - SERPINA1_000044 - PubMed: 12935698 - - Unknown - - - - - George Patrinos
-/- 1 4 c.172G>A r.= p.(Ala58Thr) - benign g.94849403C>T g.94383066C>T g.7487G>A | A58T / Name: M5-Karlsruhe - SERPINA1_000043 - PubMed: Faber 1994 - - Unknown - - - - - George Patrinos
-?/. 1 - c.172G>T r.(?) p.(Ala58Ser) - likely benign g.94849403C>A g.94383066C>A SERPINA1(NM_001127701.1):c.172G>T (p.A58S) - SERPINA1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/., ?/? 5 4 c.187C>T r.(?) p.(Arg63Cys) - pathogenic, VUS g.94849388G>A g.94383051G>A g.7502C>T | R63C / Name: I, SERPINA1(NM_001127701.1):c.187C>T (p.R63C) - SERPINA1_000005 VKGL data sharing initiative Nederland PubMed: Graham 1989 - rs28931570 CLASSIFICATION record, Germline, Unknown - - - - - Gerard C.P. Schaafsma, George Patrinos, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
+/+ 1 4 c.193del r.(?) p.(Leu65Trpfs*15) - pathogenic g.94849382del g.94383045del g.7508-7537del | 65-75del, 22-bpins, 94-95X / Name: M-Varallo - SERPINA1_000042 - PubMed: 14639110 - - Unknown - - - - - George Patrinos
?/? 1 4 c.194T>C r.(?) p.(Leu65Pro) - VUS g.94849381A>G g.94383044A>G g.7509T>C | L65P / Name: M-Procida - SERPINA1_000041 - PubMed: Takahashi 1988 - rs28931569 Unknown - - PvuII- - - George Patrinos
-?/. 1 - c.199C>T r.(?) p.(His67Tyr) - likely benign g.94849376G>A g.94383039G>A SERPINA1(NM_001127701.1):c.199C>T (p.H67Y) - SERPINA1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/- 1 4 c.206C>T r.= p.(Ser69Phe) - benign g.94849369G>A g.94383032G>A g.7521C>T | S69F / Name: M6-Bonn - SERPINA1_000040 - PubMed: Faber 1994 - - Unknown - - - - - George Patrinos
+/+, +/., ?/? 4 4 c.227_229del r.(?), r.= p.(Phe76del) - pathogenic, VUS g.94849352_94849354del g.94383015_94383017del g.7538-7540TCCdel | c.7829G>A | F75del | F51del | G172R | G148R / Name: M-Nichinan, 3 more items - SERPINA1_000039 VKGL data sharing initiative Nederland PubMed: Curiel 1989, PubMed: Faber 1994, PubMed: Matsunaga 1990 - - CLASSIFICATION record, Unknown - - - - - George Patrinos, VKGL-NL_Rotterdam
+/+ 1 4 c.230C>T r.= p.(Ser77Phe) - pathogenic g.94849345G>A g.94383008G>A g.7545C>T | S77F / Name: S-Iiyama - SERPINA1_000038 - PubMed: Seyama 1991 - rs55819880 Unknown - - - - - George Patrinos
+/., -/- 2 4 c.250G>A r.(?), r.= p.(Ala84Thr) - benign, pathogenic g.94849325C>T g.94382988C>T g.7565G>A | A84T / Name: M6-Passau, SERPINA1(NM_001127701.1):c.250G>A (p.A84T) - SERPINA1_000037 VKGL data sharing initiative Nederland PubMed: Faber 1994 - - CLASSIFICATION record, Unknown - - - - - George Patrinos, VKGL-NL_Rotterdam
+/+ 1 4 c.272G>A r.= p.(Gly91Glu) - pathogenic g.94849303C>T g.94382966C>T g.7587G>A | g.9475T>C | E91G | V237A / Name: M-Mineral springs - SERPINA1_000036 - PubMed: Curiel 1990 - rs28931568 Unknown - - AvaII+ - - George Patrinos
+/+ 1 4 c.273del r.(?) p.(Thr92Profs*13) - pathogenic g.94849305del g.94382968del c.273delG - SERPINA1_000035 - PubMed: Kanazawa 2009 - - Unknown - - - - - George Patrinos
+/+ 1 4 c.275C>T r.(?) p.(Thr92Ile) - pathogenic g.94849300G>A g.94382963G>A g.7590C>T | T92I / Name: QO-Lisbon - SERPINA1_000034 - PubMed: Faber 1994 - - Unknown - - AvaII- - - George Patrinos
-?/. 1 - c.291C>T r.(?) p.(His97=) - likely benign g.94849284G>A g.94382947G>A SERPINA1(NM_000295.4):c.291C>T (p.H97=) - SERPINA1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 4 c.326C>T r.(?) p.(Thr109Met) - VUS g.94849249G>A g.94382912G>A g.7641C>T | T109M / Name: Z-Bristol - SERPINA1_000033 - PubMed: Lovegrove 1997 - - Unknown - - - - - George Patrinos
-/- 1 4 c.334C>A r.= p.(Pro112Thr) - benign g.94849241G>T g.94382904G>T g.7649C>A | P112T / Name: M5-Berlin - SERPINA1_000032 - PubMed: Faber 1994 - - Unknown - - - - - George Patrinos
+/+ 1 4 c.347T>A r.= p.(Ile116Asn) - pathogenic g.94849228A>T g.94382891A>T g.7662T>A | I116N / Name: QO-Lunwigshafen - SERPINA1_000031 - PubMed: Fraizer 1990 - rs28931572 Unknown - - XhoII- - - George Patrinos
+/+, -/-, -/., ?/. 35 4 c.374G>A r.(?), r.= p.(Arg125His) - benign, pathogenic, VUS g.94849201C>T g.94382864C>T g.11940G>A | g.7689G>A | g.12047A>C | R125H | E366L | E400D / Name: Z-Augsburg/Tun, 8 more items - SERPINA1_000003 VKGL data sharing initiative Nederland PubMed: 12935698, PubMed: 14985567, PubMed: 8364590, PubMed: Constans 1980, PubMed: Curiel 1989, 3 more items - rs709932 CLASSIFICATION record, Germline, Unknown - - RsaI+ - - Gerard C.P. Schaafsma, George Patrinos, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/+, +/. 2 4 c.376del r.(?) p.(Thr126Profs*11), p.(Thr126ProfsTer11) - pathogenic g.94849199del g.94382862del c.376delA, SERPINA1(NM_000295.4):c.376delA (p.T126Pfs*11) - SERPINA1_000030, SERPINA1_000073 VKGL data sharing initiative Nederland PubMed: Prins 2008 - - CLASSIFICATION record, Unknown - - - - - George Patrinos, VKGL-NL_Rotterdam
+/+ 1 4 c.386A>C r.(?) p.(Gln129Pro) - pathogenic g.94849189T>G g.94382852T>G c.386A-C | Q129P - SERPINA1_000029 - PubMed: Zorzetto 2008 - - Unknown - - - - - George Patrinos
+/+, +/. 2 4 c.415G>A r.(?) p.(Gly139Ser) - pathogenic g.94849160C>T g.94382823C>T g.7730G>A | G139S / Name: QO-Newport/Devon - SERPINA1_000028 2 heterozygous, no homozygous; Clinindb (India) PubMed: Graham 1990, PubMed: Narang 2020, Journal: Narang 2020 - rs11558261 Germline, Unknown - 2/2795 individuals - - - George Patrinos, Mohammed Faruq
-/-, -/. 2 4 c.424C>T r.(?), r.= p.(=), p.(Leu142=) - benign g.94849151G>A g.94382814G>A g.7739C>T | L142L / Name: M3-Rieudenburg, SERPINA1(NM_000295.4):c.424C>T (p.L142=) - SERPINA1_000027 VKGL data sharing initiative Nederland PubMed: Faber 1994 - - CLASSIFICATION record, Unknown - - - - - George Patrinos, VKGL-NL_Rotterdam
+/+, -?/., ?/? 3 4 c.514G>A r.(?) p.(Gly172Arg) - likely benign, pathogenic, VUS g.94849061C>T g.94382724C>T c.514G-A | G172R, SERPINA1(NM_000295.4):c.514G>A (p.G172R), 1 more item - SERPINA1_000026 VKGL data sharing initiative Nederland PubMed: Matsunaga 1990 - rs112030253 CLASSIFICATION record, Unknown - - - - - George Patrinos, VKGL-NL_Rotterdam
-/-, ?/. 2 4 c.514G>T r.(?), r.= p.(Gly172Trp) - benign, VUS g.94849061C>A g.94382724C>A g.7829G>T | G172W / Name: M2-Obernburg, SERPINA1(NM_001127701.1):c.514G>T (p.G172W) - SERPINA1_000025 VKGL data sharing initiative Nederland PubMed: Faber 1994 - - CLASSIFICATION record, Unknown - - - - - George Patrinos, VKGL-NL_VUmc
+?/. 1 - c.538C>T r.(?) p.(Gln180*) - likely pathogenic g.94849037G>A g.94382700G>A - - SERPINA1_000086 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 1/2794 individuals - - - Mohammed Faruq
+/+, +/. 2 4 c.552C>G r.(?) p.(Tyr184*), p.(Tyr184Ter) - pathogenic g.94849023G>C g.94382686G>C c.552C-G | Y184X, SERPINA1(NM_000295.4):c.552C>G (p.Y184*) - SERPINA1_000053 VKGL data sharing initiative Nederland PubMed: Prins 2008 - - CLASSIFICATION record, Unknown - - - - - George Patrinos, VKGL-NL_Rotterdam
+/+ 1 4 c.552del r.0 p.(Tyr184*) - pathogenic g.94849023del g.94382686del g.7867delC | c.9475T>C | T184X | V237A / Name: QO-Granite falls - SERPINA1_000052 - PubMed: Nukiwa 1987 - - Unknown - - MaeII- - - George Patrinos
-/. 1 - c.646+78_646+79dup r.(=) p.(=) - benign g.94848853_94848854dup g.94382516_94382517dup SERPINA1(NM_000295.4):c.646+78_646+79dupTC - SERPINA1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 5 c.654G>A r.(?) p.(Trp218*) - pathogenic g.94847471C>T g.94381134C>T g.9419G>A | W218X / Name: QO-Trastevere - SERPINA1_000051 - PubMed: 9635295 - - Unknown - - - - - George Patrinos
-/- 1 5 c.682G>A r.= p.(Glu228Lys) - benign g.94847443C>T g.94381106C>T g.9447G>A | E228K / Name: X - SERPINA1_000050 - PubMed: Crystal - - Unknown - - - - - George Patrinos
+/+, -/-, -/., -?/., ?/. 49 5 c.710T>C r.(?), r.0, r.= p.(Val237Ala) - benign, likely benign, pathogenic, VUS g.94847415A>G g.94381078A>G g.11922G>A | g.9475T>C | V237A | A360T / Name: W-Bethesda, g.9475T>C | V237A / Name: M1, 6 more items - SERPINA1_000002 VKGL data sharing initiative Nederland PubMed: 14985567, PubMed: Curiel 1990, PubMed: Faber 1994, PubMed: Holmes 1990, PubMed: Nukiwa 1987 - rs6647 CLASSIFICATION record, Germline, Unknown - - AvaII+, BstEII+, MaeII- - - Gerard C.P. Schaafsma, George Patrinos, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
+/+, +/. 4 5 c.721A>T r.(?), r.0 p.(Lys241*), p.(Lys241Ter), p.0 - pathogenic g.94847404T>A g.94381067T>A A>T Lys217Stop, g.9486A>T | K241X / Name: QO-Bellingham, 1 more item - SERPINA1_000008 A1AT Null-Bellingham; no detectable mRNA, VKGL data sharing initiative Nederland PubMed: Curiel 1989, Journal: Curiel 1989, PubMed: Satoh 1988 - - CLASSIFICATION record, Germline, Unknown yes - - - - Johan den Dunnen, George Patrinos, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/., -/-, ?/. 5 5 c.739C>T r.(?) p.(Arg247Cys) - benign, pathogenic, VUS g.94847386G>A g.94381049G>A g.9504C>T | R247C / Name: F, 1 more item - SERPINA1_000049 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020, PubMed: Okayama 1991 - rs28929470 CLASSIFICATION record, Germline, Unknown - 1/2795 individuals - - - George Patrinos, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc, Mohammed Faruq
+/+ 1 5 c.745G>C r.(?) p.(Gly249Arg) - pathogenic g.94847380C>G g.94381043C>G G249R - SERPINA1_000048 - PubMed: Medicina 2009 - - Unknown - - - - - George Patrinos
+/+, -?/., ?/., ?/? 5 5 c.839A>T r.(?) p.(Asp280Val) - likely benign, pathogenic, VUS g.94847286T>A g.94380949T>A g.7689G>A | g.9604A>T | R125H | D280V / Name: P-Duarte, 3 more items - SERPINA1_000047 VKGL data sharing initiative Nederland PubMed: 8364590, PubMed: Holms 1990, PubMed: Jardi 1998 - rs28929472 CLASSIFICATION record, Unknown - - RsaI+ - - George Patrinos, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/- 1 5 c.840T>C r.= p.(=) - benign g.94847285A>G g.94380948A>G g.11937G>A | g.9605T>C | D280D | D365N / Name: P-Saint albans - SERPINA1_000068 - PubMed: Holms 1990 - rs28929471 Unknown - - - - - George Patrinos
+/+ 1 5 c.847A>T r.(?) p.(Lys283*) - pathogenic g.94847278T>A g.94380941T>A g.9612A>T | K283X / Name: QO-Cairo - SERPINA1_000067 - PubMed: 15905697 - - Unknown - - - - - George Patrinos
+/+ 1 5 c.848A>T r.(?) p.(Lys283Ile) - pathogenic g.94847277T>A g.94380940T>A c.848A-T | K283I - SERPINA1_000066 - PubMed: Zorzetto 2008 - - Unknown - - - - - George Patrinos
+/+, +/., -/- 5 5 c.863A>T r.(?), r.= p.(Glu288Val) - benign, pathogenic g.94847262T>A g.94380925T>A g.9628A>T | E288V / Name: S, SERPINA1(NM_001127701.1):c.863A>T (p.E288V), 1 more item - SERPINA1_000065 VKGL data sharing initiative Nederland PubMed: 14985567, PubMed: Faber 1994 - rs17580 CLASSIFICATION record, Unknown - - - - - George Patrinos, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
+/+ 1 5 c.875C>T r.(?) p.(Thr292Ile) - pathogenic g.94847250G>A g.94380913G>A c.875C-T | T292I - SERPINA1_000064 - PubMed: Zorzetto 2008 - - Unknown - - - - - George Patrinos
+/+ 1 5 c.880G>A r.(?) p.(Asp294Asn) - pathogenic g.94847245C>T g.94380908C>T c.880G-A | D294N - SERPINA1_000063 - PubMed: Zorzetto 2008 - - Unknown - - - - - George Patrinos
-/- 1 5 c.899T>C r.= p.(Leu300Pro) - benign g.94847226A>G g.94380889A>G g.9664T>C | g.7689G>A | g.12047A>C | R125H | L300P | E400D, / Name: N-Nagato - SERPINA1_000062 - PubMed: 12935698 - - Unknown - - - - - George Patrinos
-?/., ?/. 4 - c.922G>T r.(?) p.(Ala308Ser) - likely benign, VUS g.94845944C>A g.94379607C>A SERPINA1(NM_000295.4):c.922G>T (p.(Ala308Ser)), SERPINA1(NM_001127701.1):c.922G>T (p.A308S) - SERPINA1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/+ 1 6 c.1026del r.= p.(Ser343Profs*9) - pathogenic g.94845840del g.94379503del 1 more item - SERPINA1_000061 - PubMed: 14985567 - - Unknown - - - - - George Patrinos
+/+ 1 6 c.1027_1028del r.(?) p.(Ser343Argfs*16) - pathogenic g.94845841_94845842del g.94379504_94379505del c.1027_1028delTC - SERPINA1_000024 - PubMed: Sifers 1988 - - Unknown - - - - - George Patrinos
-?/. 1 - c.1045G>C r.(?) p.(Ala349Pro) - likely benign g.94845821C>G g.94379484C>G SERPINA1(NM_001127701.1):c.1045G>C (p.A349P) - SERPINA1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 1 6 c.1061C>T r.= p.(Ser354Phe) - benign g.94845805G>A g.94379468G>A g.11085C>T | S354F / Name: S-Munich - SERPINA1_000023 - PubMed: Faber 1994 - - Unknown - - - - - George Patrinos
-?/. 1 - c.1065+16C>A r.(=) p.(=) - likely benign g.94845785G>T g.94379448G>T SERPINA1(NM_001127701.1):c.1065+16C>A - SERPINA1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1068C>T r.(?) p.(Ala356=) - likely benign g.94844975G>A g.94378638G>A SERPINA1(NM_000295.4):c.1068C>T (p.A356=) - SERPINA1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 7 c.1069G>A r.(?) p.(Val357Met) - pathogenic g.94844974C>T g.94378637C>T V357M - SERPINA1_000022 - PubMed: Arora 2010 - - Unknown - - - - - George Patrinos
+/+ 1 7 c.1072C>G r.(?) p.(His358Asp) - pathogenic g.94844971G>C g.94378634G>C H358D - SERPINA1_000021 - - - - Unknown - - - - - George Patrinos
-/- 1 7 c.1075A>G r.= p.(Lys359Glu) - benign g.94844968T>C g.94378631T>C g.11919A>G | K359E / Name: E-Tokyo - SERPINA1_000020 - PubMed: 12935698 - - Unknown - - - - - George Patrinos
+/+ 1 7 c.1078G>A r.(?) p.(Ala360Thr) - pathogenic g.94844965C>T g.94378628C>T g.11922G>A | g.9475T>C | V237A | A360T / Name: W-Bethesda - SERPINA1_000019 - PubMed: Holmes 1990 - rs1802959 Unknown - - - - - George Patrinos
-/- 2 7 c.1093G>A r.= p.(Asp365Asn) - benign g.94844950C>T g.94378613C>T g.11937G>A | D365N / Name: P-Donauwoerth, 1 more item - SERPINA1_000018 - PubMed: Faber 1994, PubMed: Holms 1990 - rs143370956 Unknown - - - - - George Patrinos
+/+, +/., ?/. 10 7 c.1096G>A r.(?) p.(Glu366Lys) - pathogenic, VUS g.94844947C>T g.94378610C>T g.11940G>A | g.7689G>A | g.12047A>C | R125H | E366L | E400D / Name: Z-Augsburg/Tun, 2 more items - SERPINA1_000004 VKGL data sharing initiative Nederland PubMed: 14985567, PubMed: Weidinger 1985 - rs28929474 CLASSIFICATION record, Germline, Unknown - - - - - Gerard C.P. Schaafsma, George Patrinos, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/+, +/. 3 7 c.1130dup r.1130dup, r.= p.(Leu377Phefs*24), p.Leu377Phefs*24 - pathogenic g.94844917dup g.94378580dup g.11974insT | 387LinsT | 400X / Name: QO-Mattawa, insT Leu353, 1 more item - SERPINA1_000007 A1AT Null-Mattawa; normal mRNA expression level PubMed: 9070606, PubMed: Curiel 1989, Journal: Curiel 1989, PubMed: Seixas 2002 - - Germline, Unknown yes - - - - Johan den Dunnen, George Patrinos
+?/+? 1 7 c.1145T>G r.(?) p.(Met382Arg) - likely pathogenic g.94844898A>C g.94378561A>C g.11989T>G | M382R / Name: Pittsburg - SERPINA1_000017 - PubMed: 14985567 - - Unknown - - - - - George Patrinos
-/- 1 7 c.1156C>A r.= p.(Pro386Thr) - benign g.94844887G>T g.94378550G>T g.12000C>A | P386T / Name: L-offenbach - SERPINA1_000015 - PubMed: Faber 1994 - - Unknown - - - - - George Patrinos
-?/. 1 - c.1156C>G r.(?) p.(Pro386Ala) - likely benign g.94844887G>C g.94378550G>C SERPINA1(NM_001127701.1):c.1156C>G (p.P386A) - SERPINA1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 1 7 c.1156C>T r.= p.(Pro386Ser) - benign g.94844887G>A g.94378550G>A g.12000C>T | g.12047A>C | P386S | E400D / Name: M5-Gunma - SERPINA1_000016 - PubMed: 12935698 - - Unknown - - - - - George Patrinos
+/+ 1 7 c.1158del r.= p.(Glu387Argfs*11) - pathogenic g.94844891del g.94378554del g.12002delC | 385-387delC | 400X / Name: QO-Bolton - SERPINA1_000014 - PubMed: Fraizer 1989 - - Unknown - - - - - George Patrinos
+/+ 2 7 c.1158dup r.= p.(Glu387Argfs*14) - pathogenic g.94844891dup g.94378554dup g.12002insC | 386PinsC | 400X / Name: QO-Clayton, 1 more item - SERPINA1_000013 - PubMed: 9070606, PubMed: Faber 1994 - - Unknown - - - - - George Patrinos
-/-, -?/., ?/. 3 7 c.1159G>A r.(?), r.= p.(Glu387Lys) - benign, likely benign, VUS g.94844884C>T g.94378547C>T g.12003G>A | E387K / Name: X-Christchurch, SERPINA1(NM_001127701.1):c.1159G>A (p.E387K) - SERPINA1_000012 VKGL data sharing initiative Nederland PubMed: 14985567 - - CLASSIFICATION record, Unknown - - - - - George Patrinos, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/+, +?/., ?/. 4 7 c.1177C>T r.(?) p.(Pro393Ser) - likely pathogenic, pathogenic, VUS g.94844866G>A g.94378529G>A g.C12021T | P393S / Name: M-Val d'hebron, 1 more item - SERPINA1_000006 VKGL data sharing initiative Nederland PubMed: 10878477 - rs61761869 CLASSIFICATION record, Germline, Unknown - - - - - Gerard C.P. Schaafsma, George Patrinos, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/+, +/., +?/. 4 7 c.1178C>T r.(?) p.(Pro393Leu) - likely pathogenic, pathogenic g.94844865G>A g.94378528G>A g.12022C>T | g.9475T>C | V237A | P393L / Name: M-Heerlem, 1 more item - SERPINA1_000011 VKGL data sharing initiative Nederland PubMed: 14985567 - - CLASSIFICATION record, Unknown - - - - - George Patrinos, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-/., ?/. 45 - c.1200A>C r.(?) p.(Glu400Asp) - benign, VUS g.94844843T>G g.94378506T>G SERPINA1(NM_000295.4):c.1200A>C (p.E400D), SERPINA1(NM_001127701.1):c.1200A>C (p.E400D) - SERPINA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Gerard C.P. Schaafsma, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/+, -/- 8 7 c.1203A>C r.(?), r.= p.(Gln401His) - benign, pathogenic g.94844840T>G g.94378503T>G g.11940G>A | g.7689G>A | g.12047A>C | R125H | E366L | E400D / Name: Z-Augsburg/Tun, 7 more items - SERPINA1_000010 - PubMed: 12935698, PubMed: 14985567, PubMed: Faber 1994, PubMed: Holmes 1990, PubMed: Nukiwa, 2 more items - rs1303 Unknown - - RsaI+ - - George Patrinos
+/+ 1 7 c.1244C>A r.(?) p.(Pro415His) - pathogenic g.94844799G>T g.94378462G>T g.9604A>T | g.12088C>A | D280V | P415H / Name: Y-Barcelona - SERPINA1_000060 - PubMed: Jardi 1998 - - Unknown - - - - - George Patrinos
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