Unique variants in gene SERPINA1

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

76 entries on 1 page. Showing entries 1 - 76.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.(=) g.94856914G>A g.94390577G>A - - SERPINA1_000058 - PubMed: Chappell 2006 - rs8004738 Unknown - - - - - George Patrinos
+/+ 1 1i c.-301+1G>A - r.0 p.? 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.(=) g.94856657G>A g.94390320G>A - - SERPINA1_000056 - PubMed: Chappell 2006 - rs17751769 Unknown - - - - - George Patrinos
-/-, ?/?, +/+ 29 0 c.? - r.=, r.(?) p.? g.? - g.? / Name: P-Clifton, g.? / Name: P-Castoria, g.? / Name: M5, g.? / Name: M-Duarte, g.? / Name: L, 24 more items - SERPINA1_000009 - PubMed: 69822187, PubMed: Weidinger 1985, PubMed: Cox 1989, PubMed: Vandeville 1974, PubMed: 311584, 14 more items - - Unknown - - - - - George Patrinos
+/+ 1 4 c.1G>T - r.0 p.? g.94849574C>A g.94383237C>A c.1G>T | 164-191del | c.1G>T / Name: QO-West - SERPINA1_000055 - PubMed: Laubach 1993 - - Unknown - - - - - George Patrinos
?/? 1 4 c.17C>T - r.(?) p.(Ser6Leu) 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) 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 likely benign r.(?) p.(His39Asn) g.94849460G>T g.94383123G>T SERPINA1:c.115C>A (H39N), c.115C-A | H39N - SERPINA1_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Mahadeva 2000 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Groningen, George Patrinos
-/- 1 4 c.128A>C - r.= p.(Asp43Ala) 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) 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 likely benign r.(?) p.(Ala58Ser) g.94849403C>A - SERPINA1:c.172G>T (A58S) - SERPINA1_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/?, ?/. 2 4 c.187C>T - r.(?) p.(Arg63Cys) g.94849388G>A g.94383051G>A g.7502C>T | R63C / Name: I - SERPINA1_000005 - PubMed: Graham 1989 - rs28931570 Unknown, Germline - - - - - George Patrinos, Gerard C.P. Schaafsma
+/+ 1 4 c.193del - r.(?) p.(Leu65Trpfs*15) 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) 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 likely benign r.(?) p.(His67Tyr) g.94849376G>A - SERPINA1:c.199C>T (H67Y) - SERPINA1_000075 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/- 1 4 c.206C>T - r.= p.(Ser69Phe) 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 pathogenic r.=, r.(?) p.(Phe76del) g.94849346_94849348del g.94383009_94383011del g.7689G>A | g.12047T>C | g.7538-7540TTCdel | F75del | M2 backround / Name: M-Malton, 3 more items - SERPINA1_000039 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Curiel 1989, PubMed: Faber 1994, PubMed: Matsunaga 1990 - - Unknown, CLASSIFICATION record - - - - - George Patrinos, VKGL-NL_Rotterdam
+/+ 1 4 c.230C>T - r.= p.(Ser77Phe) g.94849345G>A g.94383008G>A g.7545C>T | S77F / Name: S-Iiyama - SERPINA1_000038 - PubMed: Seyama 1991 - rs55819880 Unknown - - - - - George Patrinos
-/- 1 4 c.250G>A - r.= p.(Ala84Thr) g.94849325C>T g.94382988C>T g.7565G>A | A84T / Name: M6-Passau - SERPINA1_000037 - PubMed: Faber 1994 - - Unknown - - - - - George Patrinos
+/+ 1 4 c.272G>A - r.= p.(Gly91Glu) 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.273delG - r.(?) p.(Thr92Profs*13) g.94849302delC g.94382965delC c.273delG - SERPINA1_000035 - PubMed: Kanazawa 2009 - - Unknown - - - - - George Patrinos
+/+ 1 4 c.275C>T - r.(?) p.(Thr92Ile) 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 likely benign r.(=) p.(=) g.94849284G>A - SERPINA1:c.291C>T (H97=) - SERPINA1_000074 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 4 c.326C>T - r.(?) p.(Thr109Met) 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) 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) 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 benign r.(?), r.= p.(Arg125His) g.94849201C>T g.94382864C>T g.7689G>A | g.12047T>C | g.7538-7540TTCdel | F75del | M2 backround / Name: M-Malton, 8 more items - SERPINA1_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Curiel 1989, PubMed: Constans 1980, PubMed: Faber 1994, PubMed: 12935698, PubMed: 14985567, 3 more items - rs709932 Germline, Unknown, CLASSIFICATION record - - RsaI+ - - Gerard C.P. Schaafsma, George Patrinos, VKGL-NL_Groningen, VKGL-NL_Rotterdam
+/. 1 - c.376del pathogenic r.(?) p.(Thr126Profs*11) g.94849199del - SERPINA1:c.376delA (T126Pfs*11) - SERPINA1_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 4 c.376delA - r.(?) p.(Thr126Profs*11) g.94849199delT g.94382862delT c.376delA - SERPINA1_000030 - PubMed: Prins 2008 - - Unknown - - - - - George Patrinos
+/+ 1 4 c.386A>C - r.(?) p.(Gln129Pro) g.94849189T>G g.94382852T>G c.386A-C | Q129P - SERPINA1_000029 - PubMed: Zorzetto 2008 - - Unknown - - - - - George Patrinos
+/+ 1 4 c.415G>A - r.(?) p.(Gly139Ser) g.94849160C>T g.94382823C>T g.7730G>A | G139S / Name: QO-Newport/Devon - SERPINA1_000028 - PubMed: Graham 1990 - rs11558261 Unknown - - - - - George Patrinos
-/- 1 4 c.424C>T - r.= p.(=) g.94849151G>A g.94382814G>A g.7739C>T | L142L / Name: M3-Rieudenburg - SERPINA1_000027 - PubMed: Faber 1994 - - Unknown - - - - - George Patrinos
?/?, +/+ 2 4 c.514G>A - r.(?) p.(Gly172Arg) g.94849061C>T g.94382724C>T g.7538-7540TCCdel | c.7829G>A | F75del | F51del | G172R | G148R / Name: M-Nichinan, 1 more item - SERPINA1_000026 - PubMed: Matsunaga 1990 - rs112030253 Unknown - - - - - George Patrinos
-/-, ?/. 2 4 c.514G>T VUS r.=, r.(?) p.(Gly172Trp) g.94849061C>A g.94382724C>A g.7829G>T | G172W / Name: M2-Obernburg, SERPINA1:c.514G>T (G172W) - SERPINA1_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Faber 1994 - - Unknown, CLASSIFICATION record - - - - - George Patrinos, VKGL-NL_VUmc
+/+, +/. 2 4 c.552C>G pathogenic r.(?) p.(Tyr184*) g.94849023G>C g.94382686G>C c.552C-G | Y184X, SERPINA1:c.552C>G (Y184*) - SERPINA1_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Prins 2008 - - Unknown, CLASSIFICATION record - - - - - George Patrinos, VKGL-NL_Rotterdam
+/+ 1 4 c.552del - r.0 p.(Tyr184*) 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+80_646+81dup benign r.(=) p.(=) g.94848848_94848849dup - SERPINA1:c.646+79_646+80insTC - SERPINA1_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 5 c.654G>A - r.? p.(Trp218*) 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) g.94847443C>T g.94381106C>T g.9447G>A | E228K / Name: X - SERPINA1_000050 - PubMed: Crystal - - Unknown - - - - - George Patrinos
?/., -/-, +/+ 47 5 c.710T>C - r.(?), r.=, r.0 p.(Val237Ala) g.94847415A>G g.94381078A>G g.9475T>C | V237A / Name: M1, g.7867delC | c.9475T>C | T184X | V237A / Name: QO-Granite falls, 5 more items - SERPINA1_000002 - PubMed: 14985567, PubMed: Nukiwa 1987, PubMed: Curiel 1990, PubMed: Holmes 1990, PubMed: Faber 1994 - rs6647 Germline, Unknown - - BstEII+, MaeII-, AvaII+ - - Gerard C.P. Schaafsma, George Patrinos
+/+, +/. 2 5 c.721A>T - r.0 p.(Lys241*), p.0 g.94847404T>A g.94381067T>A g.9486A>T | K241X / Name: QO-Bellingham, A>T Lys217Stop - SERPINA1_000008 A1AT Null-Bellingham; no detectable mRNA PubMed: Satoh 1988, PubMed: Curiel 1989, Journal: Curiel 1989 - - Unknown, Germline yes - - - - George Patrinos, Johan den Dunnen
-/-, +/. 3 5 c.739C>T pathogenic r.(?) p.(Arg247Cys) g.94847386G>A g.94381049G>A g.9504C>T | R247C / Name: F, SERPINA1:c.739C>T (R247C) - SERPINA1_000049 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Okayama 1991 - rs28929470 Unknown, CLASSIFICATION record - - - - - George Patrinos, VKGL-NL_VUmc, VKGL-NL_Rotterdam
+/+ 1 5 c.745G>C - r.(?) p.(Gly249Arg) g.94847380C>G g.94381043C>G G249R - SERPINA1_000048 - PubMed: Medicina 2009 - - Unknown - - - - - George Patrinos
?/?, +/+ 3 5 c.839A>T - r.(?) p.(Asp280Val) g.94847286T>A g.94380949T>A g.9604A>T | D280V / Name: P-Lowell/QO-Cardiff, 2 more items - SERPINA1_000047 - PubMed: Holms 1990, PubMed: 8364590, PubMed: Jardi 1998 - rs28929472 Unknown - - RsaI+ - - George Patrinos
-/- 1 5 c.840T>C - r.= p.(=) 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*) 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) g.94847277T>A g.94380940T>A c.848A-T | K283I - SERPINA1_000066 - PubMed: Zorzetto 2008 - - Unknown - - - - - George Patrinos
+/+, -/-, +/. 5 5 c.863A>T pathogenic r.(?), r.= p.(Glu288Val) g.94847262T>A g.94380925T>A g.9628A>T | E288V / Name: S, SERPINA1:c.863A>T (E288V), 1 more item - SERPINA1_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: 14985567, PubMed: Faber 1994 - rs17580 Unknown, CLASSIFICATION record - - - - - George Patrinos, VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_Rotterdam
+/+ 1 5 c.875C>T - r.(?) p.(Thr292Ile) 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) 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) 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
-?/. 2 - c.922G>T likely benign r.(?) p.(Ala308Ser) g.94845944C>A - SERPINA1:c.922G>T (A308S) - SERPINA1_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
+/+ 1 6 c.1026del - r.= p.(Ser343Profs*9) g.94845840del g.94379503del 1 more item - SERPINA1_000061 - PubMed: 14985567 - - Unknown - - - - - George Patrinos
+/+ 1 6 c.1027_1028delTC - r.(?) p.(Ser343Argfs*16) g.94845838_94845839delGA g.94379501_94379502delGA c.1027_1028delTC - SERPINA1_000024 - PubMed: Sifers 1988 - - Unknown - - - - - George Patrinos
-/- 1 6 c.1061C>T - r.= p.(Ser354Phe) 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 likely benign r.(=) p.(=) g.94845785G>T - SERPINA1:c.1065+16C>A - SERPINA1_000070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1068C>T likely benign r.(=) p.(=) g.94844975G>A - SERPINA1:c.1068C>T (A356=) - SERPINA1_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 7 c.1069G>A - r.(?) p.(Val357Met) g.94844974C>T g.94378637C>T V357M - SERPINA1_000022 - PubMed: Arora 2010 - - Unknown - - - - - George Patrinos
+/+ 1 7 c.1072C>G - r.(?) p.(His358Asp) g.94844971G>C g.94378634G>C H358D - SERPINA1_000021 - - - - Unknown - - - - - George Patrinos
-/- 1 7 c.1075A>G - r.= p.(Lys359Glu) 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) 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) 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
?/., +/+ 5 7 c.1096G>A - r.(?) p.(Glu366Lys) g.94844947C>T g.94378610C>T g.11940G>A | g.7689G>A | g.12047A>C | R125H | E366L | E400D / Name: Z-Augsburg/Tun, 1 more item - SERPINA1_000004 - PubMed: Weidinger 1985, PubMed: 14985567 - rs28929474 Germline, Unknown - - - - - Gerard C.P. Schaafsma, George Patrinos
+/+ 2 7 c.1130dup - r.= p.(Leu377Phefs*24) g.94844913dup g.94378576dupA g.11974insT | 387LinsT | 400X / Name: QO-Mattawa, 1 more item - SERPINA1_000007 - PubMed: 9070606, PubMed: Seixas 2002 - - Unknown - - - - - George Patrinos
+/. 1 7 c.1130dupT - r.1130dup p.Leu377Phefs*24 g.94844913dup g.94378576dupA insT Leu353 - SERPINA1_000007 A1AT Null-Mattawa; normal mRNA expression level PubMed: Curiel 1989, Journal: Curiel 1989 - - Germline yes - - - - Johan den Dunnen
+?/+? 1 7 c.1145T>G - r.(?) p.(Met382Arg) 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) g.94844887G>T g.94378550G>T g.12000C>A | P386T / Name: L-offenbach - SERPINA1_000015 - PubMed: Faber 1994 - - Unknown - - - - - George Patrinos
-/- 1 7 c.1156C>T - r.= p.(Pro386Ser) 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) g.94844885del g.94378548del g.12002delC | 385-387delC | 400X / Name: QO-Bolton - SERPINA1_000014 - PubMed: Fraizer 1989 - - Unknown - - - - - George Patrinos
+/+ 2 7 c.1158dup - r.= p.(Glu387Argfs*14) g.94844885dup g.94378548dup g.12002insC | 386PinsC | 400X / Name: QO-Clayton, 1 more item - SERPINA1_000013 - PubMed: 9070606, PubMed: Faber 1994 - - Unknown - - - - - George Patrinos
-/- 1 7 c.1159G>A - r.= p.(Glu387Lys) g.94844884C>T g.94378547C>T g.12003G>A | E387K / Name: X-Christchurch - SERPINA1_000012 - PubMed: 14985567 - - Unknown - - - - - George Patrinos
?/., +/+ 3 7 c.1177C>T VUS r.(?) p.(Pro393Ser) g.94844866G>A g.94378529G>A g.C12021T | P393S / Name: M-Val d'hebron, 1 more item - SERPINA1_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: 10878477 - rs61761869 Germline, Unknown, CLASSIFICATION record - - - - - Gerard C.P. Schaafsma, George Patrinos, VKGL-NL_Leiden
+/+, ?/. 2 7 c.1178C>T VUS r.(?) p.(Pro393Leu) 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; correct HGVS to be checked PubMed: 14985567 - - Unknown, CLASSIFICATION record - - - - - George Patrinos, VKGL-NL_Leiden
?/. 43 - c.1200A>C - r.(?) p.(Glu400Asp) g.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
-/-, +/+ 8 7 c.1203A>C - r.=, r.(?) p.(Gln401His) g.94844840T>G g.94378503A>G g.9628A>T | g.7689G>A | g.12047A>C | R125H | E288V | E400D / Name: T, 7 more items - SERPINA1_000010 - PubMed: Faber 1994, PubMed: 12935698, PubMed: 14985567, PubMed: Weidinger 1985, PubMed: Holmes 1990, 2 more items - rs1303 Unknown - - RsaI+ - - George Patrinos
+/+ 1 7 c.1244C>A - r.(?) p.(Pro415His) 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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