Full data view for gene SERPINA1

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

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 1 c.-458C>T - r.(=) p.(=) Unknown g.94856914G>A g.94390577G>A - - SERPINA1_000058 - PubMed: Chappell 2006 - rs8004738 Unknown - - - 0 - DNA ? - - AATD - PubMed: Chappell 2006 - - - - - - 0 - - 1 George Patrinos
+/+ 1i c.-301+1G>A - r.0 p.? Unknown g.94856756C>T g.94390419C>T IVS1C+1G->A | IVS1C+1G->A / Name: QO-Porto - SERPINA1_000057 - PubMed: Seixas 2002 - - Unknown - - - 0 - DNA SEQ - - AATD - PubMed: Seixas 2002 - - - - - - 0 - - 1 George Patrinos
?/? 1i c.-301+100C>T - r.(=) p.(=) Unknown g.94856657G>A g.94390320G>A - - SERPINA1_000056 - PubMed: Chappell 2006 - rs17751769 Unknown - - - 0 - DNA ? - - AATD - PubMed: Chappell 2006 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: P-Clifton - SERPINA1_000009 - PubMed: 69822187 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: 69822187 - - - - - - 0 - - 1 George Patrinos
?/? 0 c.? - r.= p.? Unknown g.? - g.? / Name: P-Castoria - SERPINA1_000009 - PubMed: 69822187 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: 69822187 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: M5 - SERPINA1_000009 - PubMed: Weidinger 1985 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Weidinger 1985 - - - - - - 0 - - 1 George Patrinos
+/+ 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: M-Duarte - SERPINA1_000009 - PubMed: Cox 1989 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Cox 1989 - - - - - - 0 - - 1 George Patrinos
+/+ 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: M-Cobalt - SERPINA1_000009 - PubMed: Cox 1989 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Cox 1989 - - - - - - 0 - - 1 George Patrinos
?/? 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: L - SERPINA1_000009 - PubMed: Vandeville 1974 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Vandeville 1974 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: N-Hampton - SERPINA1_000009 - PubMed: 311584 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: 311584 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: B - SERPINA1_000009 - PubMed: Martin 1973 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Martin 1973 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: E-Franklin - SERPINA1_000009 - PubMed: 69822187 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: 69822187 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: X-Alban - SERPINA1_000009 - PubMed: 69822187 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: 69822187 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: P-Saintlouis - SERPINA1_000009 - PubMed: Pierce 1981 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Pierce 1981 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: E-Lemberg - SERPINA1_000009 - PubMed: Cox 1981 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Cox 1981 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: P-Budapest - SERPINA1_000009 - PubMed: Cox 1981 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Cox 1981 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: Y-Toronto - SERPINA1_000009 - PubMed: Cox 1981 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Cox 1981 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: R - SERPINA1_000009 - PubMed: Cox 1981 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Cox 1981 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: E-Tripoli - SERPINA1_000009 - PubMed: Sebetan 1992 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Sebetan 1992 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: W-San - SERPINA1_000009 - PubMed: Dunn 1986 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Dunn 1986 - - - - - - 0 - - 1 George Patrinos
?/? 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: S-Berber - SERPINA1_000009 - PubMed: Chaabani 1984 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Chaabani 1984 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: N-Grossoeuvre - SERPINA1_000009 - PubMed: Sesboüé 1984 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Sesboüé 1984 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: N-Yerville - SERPINA1_000009 - PubMed: Sesboüé 1984 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Sesboüé 1984 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: N-Le Trait - SERPINA1_000009 - PubMed: Sesboüé 1984 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Sesboüé 1984 - - - - - - 0 - - 1 George Patrinos
?/? 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: L-Beijing - SERPINA1_000009 - PubMed: Ying 1984 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Ying 1984 - - - - - - 0 - - 1 George Patrinos
?/? 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: J-Houyao - SERPINA1_000009 - PubMed: Ying 1984 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Ying 1984 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: N-Adelaide - SERPINA1_000009 - PubMed: Mulley 1983 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Mulley 1983 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: W-Finneytown - SERPINA1_000009 - PubMed: Klasen 1985 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Klasen 1985 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: P-Oki - SERPINA1_000009 - PubMed: Yuasa 1985 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Yuasa 1985 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: E-Cincinnati - SERPINA1_000009 - PubMed: Hug 1980 - - Unknown - - - 0 - DNA PAGE, IEF - - AATD - PubMed: Hug 1980 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: Z-Pratt - SERPINA1_000009 - PubMed: Hug 1980 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Hug 1980 - - - - - - 0 - - 1 George Patrinos
?/? 0 c.? - r.(?) p.? Unknown g.? - g.? | 2 changes, D>K @ unknown position / Name: B-Ahlambra - SERPINA1_000009 - PubMed: Crystal - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Crystal - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.1G>T - r.0 p.? Unknown g.94849574C>A g.94383237C>A c.1G>T | 164-191del | c.1G>T / Name: QO-West - SERPINA1_000055 - PubMed: Laubach 1993 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Laubach 1993 - - - - - - 0 - - 1 George Patrinos
?/? 4 c.17C>T - r.(?) p.(Ser6Leu) Unknown g.94849558G>A g.94383221G>A g.7332C>T | S6L / Name: Z-Wrexham - SERPINA1_000054 - PubMed: Graham 1990 - - Unknown - - - 0 - DNA SEQ - - AATD - PubMed: Graham 1990 - - - - - - 0 - - 1 George Patrinos
-/- 4 c.77A>C - r.= p.(Asp26Ala) Unknown g.94849498T>G g.94383161T>G g.7392A>C | D26A / Name: V-Munich - SERPINA1_000046 - PubMed: Holmes 1990 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Holmes 1990 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.115C>A - r.(?) p.(His39Asn) Unknown g.94849460G>T g.94383123G>T c.115C-A | H39N - SERPINA1_000045 - PubMed: Mahadeva 2000 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Mahadeva 2000 - - - - - - 0 - - 1 George Patrinos
-?/. - c.115C>A likely benign r.(?) p.(His39Asn) Unknown g.94849460G>T - SERPINA1:c.115C>A (H39N) - SERPINA1_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 4 c.128A>C - r.= p.(Asp43Ala) Unknown g.94849447T>G g.94383110T>G g.7443A>C | D43A / Name: P-Yonago - SERPINA1_000044 - PubMed: 12935698 - - Unknown - - - 0 - DNA, protein SEQ, SSCA, IEF - - AATD - PubMed: 12935698 - - - - - - 0 - - 1 George Patrinos
-/- 4 c.172G>A - r.= p.(Ala58Thr) Unknown g.94849403C>T g.94383066C>T g.7487G>A | A58T / Name: M5-Karlsruhe - SERPINA1_000043 - PubMed: Faber 1994 - - Unknown - - - 0 - DNA SEQ - - AATD - PubMed: Faber 1994 - - - - - - 0 - - 1 George Patrinos
-?/. - c.172G>T likely benign r.(?) p.(Ala58Ser) Unknown g.94849403C>A - SERPINA1:c.172G>T (A58S) - SERPINA1_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.187C>T - r.(?) p.(Arg63Cys) Unknown g.94849388G>A g.94383051G>A - - SERPINA1_000005 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/? 4 c.187C>T - r.(?) p.(Arg63Cys) Unknown g.94849388G>A g.94383051G>A g.7502C>T | R63C / Name: I - SERPINA1_000005 - PubMed: Graham 1989 - rs28931570 Unknown - - - 0 - DNA ? - - AATD - PubMed: Graham 1989 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.193del - r.(?) p.(Leu65Trpfs*15) Unknown g.94849382del g.94383045del g.7508-7537del | 65-75del, 22-bpins, 94-95X / Name: M-Varallo - SERPINA1_000042 - PubMed: 14639110 - - Unknown - - - 0 - DNA, protein SEQ, IEF - - AATD - PubMed: 14639110 - - - - - - 0 - - 1 George Patrinos
?/? 4 c.194T>C - r.(?) p.(Leu65Pro) Unknown g.94849381A>G g.94383044A>G g.7509T>C | L65P / Name: M-Procida - SERPINA1_000041 - PubMed: Takahashi 1988 - rs28931569 Unknown - - PvuII- 0 - DNA ? - - AATD - PubMed: Takahashi 1988 - - - - - - 0 - - 1 George Patrinos
-?/. - c.199C>T likely benign r.(?) p.(His67Tyr) Unknown g.94849376G>A - SERPINA1:c.199C>T (H67Y) - SERPINA1_000075 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 4 c.206C>T - r.= p.(Ser69Phe) Unknown g.94849369G>A g.94383032G>A g.7521C>T | S69F / Name: M6-Bonn - SERPINA1_000040 - PubMed: Faber 1994 - - Unknown - - - 0 - DNA SEQ - - AATD - PubMed: Faber 1994 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.227_229del - r.= p.(Phe76del) Parent #1 g.94849346_94849348del g.94383009_94383011del g.7689G>A | g.12047T>C | g.7538-7540TTCdel | F75del | M2 backround / Name: M-Malton - SERPINA1_000039 - PubMed: Curiel 1989 - - Unknown - - - 0 - DNA ASO - - AATD - PubMed: Curiel 1989 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.227_229del - r.(?) p.(Phe76del) Unknown g.94849346_94849348del g.94383009_94383011del g.7538-7540TCCdel | F75del | F51del / Name: M-Palermo - SERPINA1_000039 - PubMed: Faber 1994 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Faber 1994 - - - - - - 0 - - 1 George Patrinos
?/? 4 c.227_229del - r.(?) p.(Phe76del) Parent #1 g.94849346_94849348del g.94383009_94383011del g.7538-7540TCCdel | c.7829G>A | F75del | F51del | G172R | G148R / Name: M-Nichinan - SERPINA1_000039 - PubMed: Matsunaga 1990 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Matsunaga 1990 - - - - - - 0 - - 1 George Patrinos
+/. - c.227_229del pathogenic r.(?) p.(Phe76del) Unknown g.94849346_94849348del - SERPINA1:c.227_229delTCT (F76del) - SERPINA1_000039 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.230C>T - r.= p.(Ser77Phe) Unknown g.94849345G>A g.94383008G>A g.7545C>T | S77F / Name: S-Iiyama - SERPINA1_000038 - PubMed: Seyama 1991 - rs55819880 Unknown - - - 0 - DNA SEQ - - AATD - PubMed: Seyama 1991 - - - - - - 0 - - 1 George Patrinos
-/- 4 c.250G>A - r.= p.(Ala84Thr) Unknown g.94849325C>T g.94382988C>T g.7565G>A | A84T / Name: M6-Passau - SERPINA1_000037 - PubMed: Faber 1994 - - Unknown - - - 0 - DNA SEQ - - AATD - PubMed: Faber 1994 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.272G>A - r.= p.(Gly91Glu) Parent #1 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 - DNA Southern - - AATD - PubMed: Curiel 1990 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.273delG - r.(?) p.(Thr92Profs*13) Unknown g.94849302delC g.94382965delC c.273delG - SERPINA1_000035 - PubMed: Kanazawa 2009 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Kanazawa 2009 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.275C>T - r.(?) p.(Thr92Ile) Unknown g.94849300G>A g.94382963G>A g.7590C>T | T92I / Name: QO-Lisbon - SERPINA1_000034 - PubMed: Faber 1994 - - Unknown - - AvaII- 0 - DNA SEQ - - AATD - PubMed: Faber 1994 - - - - - - 0 - - 1 George Patrinos
-?/. - c.291C>T likely benign r.(=) p.(=) Unknown g.94849284G>A - SERPINA1:c.291C>T (H97=) - SERPINA1_000074 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.326C>T - r.(?) p.(Thr109Met) Unknown g.94849249G>A g.94382912G>A g.7641C>T | T109M / Name: Z-Bristol - SERPINA1_000033 - PubMed: Lovegrove 1997 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Lovegrove 1997 - - - - - - 0 - - 1 George Patrinos
-/- 4 c.334C>A - r.= p.(Pro112Thr) Unknown g.94849241G>T g.94382904G>T g.7649C>A | P112T / Name: M5-Berlin - SERPINA1_000032 - PubMed: Faber 1994 - - Unknown - - - 0 - DNA SEQ - - AATD - PubMed: Faber 1994 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.347T>A - r.= p.(Ile116Asn) Unknown g.94849228A>T g.94382891A>T g.7662T>A | I116N / Name: QO-Lunwigshafen - SERPINA1_000031 - PubMed: Fraizer 1990 - rs28931572 Unknown - - XhoII- 0 - DNA ASO, SEQ - - AATD - PubMed: Fraizer 1990 - - - - - - 0 - - 1 George Patrinos
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Both (homozygous) g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Both (homozygous) g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 4 c.374G>A - r.= p.(Arg125His) Parent #1 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 - DNA ASO - - AATD - PubMed: Curiel 1989 - - - - - - 0 - - 1 George Patrinos
-/- 4 c.374G>A - r.= p.(Arg125His) Unknown g.94849201C>T g.94382864C>T g.7689G>A | R125H / Name: M4 - SERPINA1_000003 - PubMed: Constans 1980 - rs709932 Unknown - - - 0 - DNA ? - - AATD - PubMed: Constans 1980 - - - - - - 0 - - 1 George Patrinos
-/- 4 c.374G>A - r.= p.(Arg125His) Parent #1 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 - DNA ? - - AATD - PubMed: Faber 1994 - - - - - - 0 - - 1 George Patrinos
-/- 4 c.374G>A - r.= p.(Arg125His) Parent #1 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 - DNA, protein SEQ, SSCA, IEF - - AATD - PubMed: 12935698 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.374G>A - r.= p.(Arg125His) Parent #1 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 - DNA ? - - AATD - PubMed: 14985567 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.374G>A - r.(?) p.(Arg125His) Parent #1 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 - DNA, protein IEF - - AATD - PubMed: Weidinger 1985 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.374G>A - r.(?) p.(Arg125His) Parent #1 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 - DNA SEQ - - AATD - PubMed: 8364590 - - - - - - 0 - - 1 George Patrinos
-/- 4 c.374G>A - r.= p.(Arg125His) Parent #1 g.94849201C>T g.94382864C>T g.7689G>A | g.12047A>C | R125H | E400D / Name: M2 - SERPINA1_000003 - PubMed: Nukiwa - rs709932 Unknown - - RsaI+ 0 - DNA ASO, PCRdig - - AATD - PubMed: Nukiwa - - - - - - 0 - - 1 George Patrinos
-/. - c.374G>A benign r.(?) p.(Arg125His) Unknown g.94849201C>T - SERPINA1:c.374G>A (R125H) - SERPINA1_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.374G>A benign r.(?) p.(Arg125His) Unknown g.94849201C>T - SERPINA1:c.374G>A (R125H) - SERPINA1_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.376del pathogenic r.(?) p.(Thr126Profs*11) Unknown g.94849199del - SERPINA1:c.376delA (T126Pfs*11) - SERPINA1_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.376delA - r.(?) p.(Thr126Profs*11) Unknown g.94849199delT g.94382862delT c.376delA - SERPINA1_000030 - PubMed: Prins 2008 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Prins 2008 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.386A>C - r.(?) p.(Gln129Pro) Unknown g.94849189T>G g.94382852T>G c.386A-C | Q129P - SERPINA1_000029 - PubMed: Zorzetto 2008 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Zorzetto 2008 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.415G>A - r.(?) p.(Gly139Ser) Unknown g.94849160C>T g.94382823C>T g.7730G>A | G139S / Name: QO-Newport/Devon - SERPINA1_000028 - PubMed: Graham 1990 - rs11558261 Unknown - - - 0 - DNA SEQ - - AATD - PubMed: Graham 1990 - - - - - - 0 - - 1 George Patrinos
-/- 4 c.424C>T - r.= p.(=) Unknown g.94849151G>A g.94382814G>A g.7739C>T | L142L / Name: M3-Rieudenburg - SERPINA1_000027 - PubMed: Faber 1994 - - Unknown - - - 0 - DNA SEQ - - AATD - PubMed: Faber 1994 - - - - - - 0 - - 1 George Patrinos
?/? 4 c.514G>A - r.(?) p.(Gly172Arg) Parent #1 g.94849061C>T g.94382724C>T g.7538-7540TCCdel | c.7829G>A | F75del | F51del | G172R | G148R / Name: M-Nichinan - SERPINA1_000026 - PubMed: Matsunaga 1990 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Matsunaga 1990 - - - - - - 0 - - 1 George Patrinos
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