All variants in the SERPINA1 gene

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

293 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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 c.-458C>T r.(=) p.(=) - VUS g.94856914G>A g.94390577G>A - - SERPINA1_000058 - PubMed: Chappell 2006 - rs8004738 Unknown - - - 0 - George Patrinos
+/+ 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 - - - 0 - George Patrinos
?/? 1i c.-301+100C>T r.(=) p.(=) - VUS g.94856657G>A g.94390320G>A - - SERPINA1_000056 - PubMed: Chappell 2006 - rs17751769 Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: P-Clifton - SERPINA1_000009 - PubMed: 69822187 - - Unknown - - - 0 - George Patrinos
?/? 0 c.? r.= p.? - VUS g.? - g.? / Name: P-Castoria - SERPINA1_000009 - PubMed: 69822187 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.(?) p.? - benign g.? - g.? / Name: M5 - SERPINA1_000009 - PubMed: Weidinger 1985 - - Unknown - - - 0 - George Patrinos
+/+ 0 c.? r.(?) p.? - pathogenic g.? - g.? / Name: M-Duarte - SERPINA1_000009 - PubMed: Cox 1989 - - Unknown - - - 0 - George Patrinos
+/+ 0 c.? r.(?) p.? - pathogenic g.? - g.? / Name: M-Cobalt - SERPINA1_000009 - PubMed: Cox 1989 - - Unknown - - - 0 - George Patrinos
?/? 0 c.? r.(?) p.? - VUS g.? - g.? / Name: L - SERPINA1_000009 - PubMed: Vandeville 1974 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: N-Hampton - SERPINA1_000009 - PubMed: 311584 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: B - SERPINA1_000009 - PubMed: Martin 1973 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: E-Franklin - SERPINA1_000009 - PubMed: 69822187 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: X-Alban - SERPINA1_000009 - PubMed: 69822187 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: P-Saintlouis - SERPINA1_000009 - PubMed: Pierce 1981 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: E-Lemberg - SERPINA1_000009 - PubMed: Cox 1981 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: P-Budapest - SERPINA1_000009 - PubMed: Cox 1981 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: Y-Toronto - SERPINA1_000009 - PubMed: Cox 1981 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: R - SERPINA1_000009 - PubMed: Cox 1981 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: E-Tripoli - SERPINA1_000009 - PubMed: Sebetan 1992 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: W-San - SERPINA1_000009 - PubMed: Dunn 1986 - - Unknown - - - 0 - George Patrinos
?/? 0 c.? r.(?) p.? - VUS g.? - g.? / Name: S-Berber - SERPINA1_000009 - PubMed: Chaabani 1984 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: N-Grossoeuvre - SERPINA1_000009 - PubMed: Sesboüé 1984 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: N-Yerville - SERPINA1_000009 - PubMed: Sesboüé 1984 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: N-Le Trait - SERPINA1_000009 - PubMed: Sesboüé 1984 - - Unknown - - - 0 - George Patrinos
?/? 0 c.? r.(?) p.? - VUS g.? - g.? / Name: L-Beijing - SERPINA1_000009 - PubMed: Ying 1984 - - Unknown - - - 0 - George Patrinos
?/? 0 c.? r.(?) p.? - VUS g.? - g.? / Name: J-Houyao - SERPINA1_000009 - PubMed: Ying 1984 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: N-Adelaide - SERPINA1_000009 - PubMed: Mulley 1983 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: W-Finneytown - SERPINA1_000009 - PubMed: Klasen 1985 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.= p.? - benign g.? - g.? / Name: P-Oki - SERPINA1_000009 - PubMed: Yuasa 1985 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.(?) p.? - benign g.? - g.? / Name: E-Cincinnati - SERPINA1_000009 - PubMed: Hug 1980 - - Unknown - - - 0 - George Patrinos
-/- 0 c.? r.(?) p.? - benign g.? - g.? / Name: Z-Pratt - SERPINA1_000009 - PubMed: Hug 1980 - - Unknown - - - 0 - George Patrinos
?/? 0 c.? r.(?) p.? - VUS g.? - g.? | 2 changes, D>K @ unknown position / Name: B-Ahlambra - SERPINA1_000009 - PubMed: Crystal - - Unknown - - - 0 - George Patrinos
+/+ 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 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Laubach 1993 - - Unknown - - - 0 - George Patrinos
?/? 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 - - - 0 - George Patrinos
-/- 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 - - - 0 - George Patrinos
+/+ 4 c.115C>A r.(?) p.(His39Asn) - pathogenic g.94849460G>T g.94383123G>T c.115C-A | H39N - SERPINA1_000045 - PubMed: Mahadeva 2000 - - Unknown - - - 0 - George Patrinos
-?/. - c.115C>A r.(?) p.(His39Asn) - likely benign g.94849460G>T g.94383123G>T SERPINA1(NM_001127701.1):c.115C>A (p.H39N) - SERPINA1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/- 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 - - - 0 - George Patrinos
-/- 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 - - - 0 - George Patrinos
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.187C>T r.(?) p.(Arg63Cys) - VUS g.94849388G>A g.94383051G>A - - SERPINA1_000005 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/? 4 c.187C>T r.(?) p.(Arg63Cys) - VUS g.94849388G>A g.94383051G>A g.7502C>T | R63C / Name: I - SERPINA1_000005 - PubMed: Graham 1989 - rs28931570 Unknown - - - 0 - George Patrinos
+/. - c.187C>T r.(?) p.(Arg63Cys) - pathogenic g.94849388G>A g.94383051G>A SERPINA1(NM_001127701.1):c.187C>T (p.R63C) - SERPINA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.187C>T r.(?) p.(Arg63Cys) - VUS g.94849388G>A g.94383051G>A SERPINA1(NM_001127701.1):c.187C>T (p.R63C) - SERPINA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.187C>T r.(?) p.(Arg63Cys) - VUS g.94849388G>A g.94383051G>A SERPINA1(NM_001127701.1):c.187C>T (p.R63C) - SERPINA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 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 - - - 0 - George Patrinos
?/? 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- 0 - George Patrinos
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-/- 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 - - - 0 - George Patrinos
+/+ 4 c.227_229del r.= p.(Phe76del) - pathogenic g.94849352_94849354del g.94383015_94383017del g.7689G>A | g.12047T>C | g.7538-7540TTCdel | F75del | M2 backround / Name: M-Malton - SERPINA1_000039 - PubMed: Curiel 1989 - - Unknown - - - 0 - George Patrinos
+/+ 4 c.227_229del r.(?) p.(Phe76del) - pathogenic g.94849352_94849354del g.94383015_94383017del g.7538-7540TCCdel | F75del | F51del / Name: M-Palermo - SERPINA1_000039 - PubMed: Faber 1994 - - Unknown - - - 0 - George Patrinos
?/? 4 c.227_229del r.(?) p.(Phe76del) - VUS g.94849352_94849354del g.94383015_94383017del g.7538-7540TCCdel | c.7829G>A | F75del | F51del | G172R | G148R / Name: M-Nichinan - SERPINA1_000039 - PubMed: Matsunaga 1990 - - Unknown - - - 0 - George Patrinos
+/. - c.227_229del r.(?) p.(Phe76del) - pathogenic g.94849352_94849354del g.94383015_94383017del SERPINA1(NM_000295.4):c.227_229delTCT (p.F76del) - SERPINA1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 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 - - - 0 - George Patrinos
-/- 4 c.250G>A r.= p.(Ala84Thr) - benign g.94849325C>T g.94382988C>T g.7565G>A | A84T / Name: M6-Passau - SERPINA1_000037 - PubMed: Faber 1994 - - Unknown - - - 0 - George Patrinos
+/. - c.250G>A r.(?) p.(Ala84Thr) - pathogenic g.94849325C>T g.94382988C>T SERPINA1(NM_001127701.1):c.250G>A (p.A84T) - SERPINA1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 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+ 0 - George Patrinos
+/+ 4 c.273del r.(?) p.(Thr92Profs*13) - pathogenic g.94849305del g.94382968del c.273delG - SERPINA1_000035 - PubMed: Kanazawa 2009 - - Unknown - - - 0 - George Patrinos
+/+ 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- 0 - George Patrinos
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/? 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 - - - 0 - George Patrinos
-/- 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 - - - 0 - George Patrinos
+/+ 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- 0 - George Patrinos
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.374G>A r.(?) p.(Arg125His) - VUS g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/+ 4 c.374G>A r.= p.(Arg125His) - pathogenic g.94849201C>T g.94382864C>T g.7689G>A | g.12047T>C | g.7538-7540TTCdel | F75del | M2 backround / Name: M-Malton - SERPINA1_000003 - PubMed: Curiel 1989 - rs709932 Unknown - - - 0 - George Patrinos
-/- 4 c.374G>A r.= p.(Arg125His) - benign g.94849201C>T g.94382864C>T g.7689G>A | R125H / Name: M4 - SERPINA1_000003 - PubMed: Constans 1980 - rs709932 Unknown - - - 0 - George Patrinos
-/- 4 c.374G>A r.= p.(Arg125His) - benign g.94849201C>T g.94382864C>T g.9628A>T | g.7689G>A | g.12047A>C | R125H | E288V | E400D / Name: T - SERPINA1_000003 - PubMed: Faber 1994 - rs709932 Unknown - - - 0 - George Patrinos
-/- 4 c.374G>A r.= p.(Arg125His) - benign g.94849201C>T g.94382864C>T g.9664T>C | g.7689G>A | g.12047A>C | R125H | L300P | E400D, / Name: N-Nagato - SERPINA1_000003 - PubMed: 12935698 - rs709932 Unknown - - - 0 - George Patrinos
+/+ 4 c.374G>A r.= p.(Arg125His) - pathogenic g.94849201C>T g.94382864C>T g.11047-11048CTdel | g.7689G>A | g.12047A>C | 342delCT | 359X | M2 backround / Name: QO-Hong kong - SERPINA1_000003 - PubMed: 14985567 - rs709932 Unknown - - - 0 - George Patrinos
+/+ 4 c.374G>A r.(?) p.(Arg125His) - pathogenic g.94849201C>T g.94382864C>T g.11940G>A | g.7689G>A | g.12047A>C | R125H | E366L | E400D / Name: Z-Augsburg/Tun - SERPINA1_000003 - PubMed: Weidinger 1985 - rs709932 Unknown - - - 0 - George Patrinos
+/+ 4 c.374G>A r.(?) p.(Arg125His) - pathogenic g.94849201C>T g.94382864C>T g.7689G>A | g.9604A>T | R125H | D280V / Name: P-Duarte - SERPINA1_000003 - PubMed: 8364590 - rs709932 Unknown - - RsaI+ 0 - George Patrinos
-/- 4 c.374G>A r.= p.(Arg125His) - benign g.94849201C>T g.94382864C>T g.7689G>A | g.12047A>C | R125H | E400D / Name: M2 - SERPINA1_000003 - PubMed: Nukiwa - rs709932 Unknown - - RsaI+ 0 - George Patrinos
-/. - c.374G>A r.(?) p.(Arg125His) - benign g.94849201C>T g.94382864C>T SERPINA1(NM_000295.4):c.374G>A (p.R125H), SERPINA1(NM_001127701.1):c.374G>A (p.R125H) - SERPINA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.374G>A r.(?) p.(Arg125His) - benign g.94849201C>T g.94382864C>T SERPINA1(NM_000295.4):c.374G>A (p.R125H), SERPINA1(NM_001127701.1):c.374G>A (p.R125H) - SERPINA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 4 c.376del r.(?) p.(Thr126Profs*11) - pathogenic g.94849199del g.94382862del c.376delA - SERPINA1_000030 - PubMed: Prins 2008 - - Unknown - - - 0 - George Patrinos
+/. - c.376del r.(?) p.(Thr126ProfsTer11) - pathogenic g.94849199del g.94382862del SERPINA1(NM_000295.4):c.376delA (p.T126Pfs*11) - SERPINA1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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