Full data view for gene CYP4A22

Information The variants shown are described using the NM_001010969.2 transcript reference sequence.

318 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 1_12 c.= CYP4A22*1 r.= p.= Parent #1 - benign g.= - reference allele - CYP4A22_000000 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Johan den Dunnen
?/. 1 c.31C>T CYP4A22*2 r.(?) p.(Arg11Cys) Parent #1 - VUS g.47603188C>T g.47137516C>T C31T - CYP4A22_000004 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - rs76011927 Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 1 c.31C>T CYP4A22*3B r.(?) p.(Arg11Cys) Parent #1 - VUS g.47603188C>T g.47137516C>T C31T - CYP4A22_000004 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - rs76011927 Germline - 9/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 1 c.31C>T CYP4A22*3A r.(?) p.(Arg11Cys) Parent #1 - VUS g.47603188C>T g.47137516C>T C41T - CYP4A22_000004 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
-?/-? 1 c.31C>T CYP4A22*2 r.(?) p.(Arg11Cys) Parent #1 - likely benign g.47603188C>T g.47137516C>T - - CYP4A22_000004 reference haplotype CYP4A22*2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs76011927 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.31C>T CYP4A22*3A r.(?) p.(Arg11Cys) Parent #1 - likely benign g.47603188C>T g.47137516C>T - - CYP4A22_000004 reference haplotype CYP4A22*3A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs76011927 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.31C>T CYP4A22*3B r.(?) p.(Arg11Cys) Parent #1 - likely benign g.47603188C>T g.47137516C>T - - CYP4A22_000004 reference haplotype CYP4A22*3B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs76011927 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
?/. 3 c.376C>T CYP4A22*12B r.(?) p.(Arg126Trp) Parent #2 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - rs12564525 Germline - 9/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*8 r.(?) p.(Arg126Trp) Parent #1 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 - rs12564525 Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*11 r.(?) p.(Arg126Trp) Parent #2 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - rs12564525 Germline - 3/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*12B r.(?) p.(Arg126Trp) Parent #2 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*9 r.(?) p.(Arg126Trp) Parent #2 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 5/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*12A r.(?) p.(Arg126Trp) Parent #2 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*12B r.(?) p.(Arg126Trp) Parent #2 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 26/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*13A r.(?) p.(Arg126Trp) Parent #2 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 8/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*13B r.(?) p.(Arg126Trp) Parent #2 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*15 r.(?) p.(Arg126Trp) Parent #2 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 36/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*14 r.(?) p.(Arg126Trp) Parent #2 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 36/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*15 r.(?) p.(Arg126Trp) Parent #2 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*9;*12A r.(?) p.(Arg126Trp) Both (homozygous) - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*9;*12B r.(?) p.(Arg126Trp) Both (homozygous) - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 2/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*9:*15 r.(?) p.(Arg126Trp) Both (homozygous) - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 4/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*12A;12B r.(?) p.(Arg126Trp) Both (homozygous) - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 2/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*12A;*15 r.(?) p.(Arg126Trp) Both (homozygous) - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*12B;*12B r.(?) p.(Arg126Trp) Both (homozygous) - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 10/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*12B;*13B r.(?) p.(Arg126Trp) Both (homozygous) - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*12B;*15 r.(?) p.(Arg126Trp) Both (homozygous) - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 21/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*13B;*13B r.(?) p.(Arg126Trp) Both (homozygous) - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*14;*15 r.(?) p.(Arg126Trp) Both (homozygous) - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*15;*15 r.(?) p.(Arg126Trp) Both (homozygous) - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 14/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*15 r.(?) p.(Arg126Trp) Parent #2 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 3 c.376C>T CYP4A22*12B r.(?) p.(Arg126Trp) Parent #2 - VUS g.47607281C>T g.47141609C>T C4124T - CYP4A22_000006 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
-?/-? 3 c.376C>T CYP4A22*8 r.(?) p.(Arg126Trp) Parent #1 - likely benign g.47607281C>T g.47141609C>T - - CYP4A22_000006 reference haplotype CYP4A22*8 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs12564525 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 3 c.376C>T CYP4A22*9 r.(?) p.(Arg126Trp) Parent #1 - likely benign g.47607281C>T g.47141609C>T - - CYP4A22_000006 reference haplotype CYP4A22*9 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs12564525 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 3 c.376C>T CYP4A22*11 r.(?) p.(Arg126Trp) Parent #1 - likely benign g.47607281C>T g.47141609C>T - - CYP4A22_000006 reference haplotype CYP4A22*11 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs12564525 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 3 c.376C>T CYP4A22*12A r.(?) p.(Arg126Trp) Parent #1 - likely benign g.47607281C>T g.47141609C>T - - CYP4A22_000006 reference haplotype CYP4A22*12A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs12564525 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 3 c.376C>T CYP4A22*12B r.(?) p.(Arg126Trp) Parent #1 - likely benign g.47607281C>T g.47141609C>T - - CYP4A22_000006 reference haplotype CYP4A22*12B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs12564525 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 3 c.376C>T CYP4A22*13A r.(?) p.(Arg126Trp) Parent #1 - likely benign g.47607281C>T g.47141609C>T - - CYP4A22_000006 reference haplotype CYP4A22*13A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs12564525 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 3 c.376C>T CYP4A22*13B r.(?) p.(Arg126Trp) Parent #1 - likely benign g.47607281C>T g.47141609C>T - - CYP4A22_000006 reference haplotype CYP4A22*13B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs12564525 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 3 c.376C>T CYP4A22*14 r.(?) p.(Arg126Trp) Parent #1 - likely benign g.47607281C>T g.47141609C>T - - CYP4A22_000006 reference haplotype CYP4A22*14 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs12564525 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 3 c.376C>T CYP4A22*15 r.(?) p.(Arg126Trp) Parent #1 - likely benign g.47607281C>T g.47141609C>T - - CYP4A22_000006 reference haplotype CYP4A22*15 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs12564525 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-/. 4 c.388G>A CYP4A22*12B r.(?) p.(Gly130Ser) Parent #2 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - rs2056900 Germline - 9/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*4 r.(?) p.(Gly130Ser) Parent #1 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - rs2056900 Germline - 3//191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*4;*12B r.(?) p.(Gly130Ser) Both (homozygous) - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - rs2056900 Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*12B r.(?) p.(Gly130Ser) Parent #2 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*12A r.(?) p.(Gly130Ser) Parent #2 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*12B r.(?) p.(Gly130Ser) Parent #2 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 26/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*13A r.(?) p.(Gly130Ser) Parent #2 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 8/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*13B r.(?) p.(Gly130Ser) Parent #2 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*15 r.(?) p.(Gly130Ser) Parent #2 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 36/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*14 r.(?) p.(Gly130Ser) Parent #2 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 36/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*15 r.(?) p.(Gly130Ser) Parent #2 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*12A r.(?) p.(Gly130Ser) Parent #2 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*12B r.(?) p.(Gly130Ser) Parent #2 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 2/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*15 r.(?) p.(Gly130Ser) Parent #2 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 4/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*10;*10 r.(?) p.(Gly130Ser) Both (homozygous) - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*12A;12B r.(?) p.(Gly130Ser) Both (homozygous) - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 2/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*12A;*15 r.(?) p.(Gly130Ser) Both (homozygous) - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*12B;*12B r.(?) p.(Gly130Ser) Both (homozygous) - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 10/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*12B;*13B r.(?) p.(Gly130Ser) Both (homozygous) - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*12B;*15 r.(?) p.(Gly130Ser) Both (homozygous) - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 21/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*13B;*13B r.(?) p.(Gly130Ser) Both (homozygous) - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*14;*15 r.(?) p.(Gly130Ser) Both (homozygous) - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*15;*15 r.(?) p.(Gly130Ser) Both (homozygous) - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 14/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.388G>A CYP4A22*15 r.(?) p.(Gly130Ser) Parent #2 - VUS g.47607785G>A g.47142113G>A G4628A - CYP4A22_000007 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
-?/-? 4 c.388G>A CYP4A22*4 r.(?) p.(Gly130Ser) Parent #1 - likely benign g.47607785G>A g.47142113G>A - - CYP4A22_000007 reference haplotype CYP4A22*4 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs2056900 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 4 c.388G>A CYP4A22*10 r.(?) p.(Gly130Ser) Parent #1 - likely benign g.47607785G>A g.47142113G>A - - CYP4A22_000007 reference haplotype CYP4A22*10 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs2056900 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 4 c.388G>A CYP4A22*12A r.(?) p.(Gly130Ser) Parent #1 - likely benign g.47607785G>A g.47142113G>A - - CYP4A22_000007 reference haplotype CYP4A22*12A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs2056900 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 4 c.388G>A CYP4A22*12B r.(?) p.(Gly130Ser) Parent #1 - likely benign g.47607785G>A g.47142113G>A - - CYP4A22_000007 reference haplotype CYP4A22*12B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs2056900 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 4 c.388G>A CYP4A22*13A r.(?) p.(Gly130Ser) Parent #1 - likely benign g.47607785G>A g.47142113G>A - - CYP4A22_000007 reference haplotype CYP4A22*13A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs2056900 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 4 c.388G>A CYP4A22*13B r.(?) p.(Gly130Ser) Parent #1 - likely benign g.47607785G>A g.47142113G>A - - CYP4A22_000007 reference haplotype CYP4A22*13B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs2056900 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 4 c.388G>A CYP4A22*14 r.(?) p.(Gly130Ser) Parent #1 - likely benign g.47607785G>A g.47142113G>A - - CYP4A22_000007 reference haplotype CYP4A22*14 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs2056900 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 4 c.388G>A CYP4A22*15 r.(?) p.(Gly130Ser) Parent #1 - likely benign g.47607785G>A g.47142113G>A - - CYP4A22_000007 reference haplotype CYP4A22*15 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs2056900 Germline - - - - - DNA SEQ - - Healthy/Control - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
?/. 4 c.454A>T CYP4A22*5 r.(?) p.(Asn152Tyr) Parent #2 - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - rs2056899 Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Johan den Dunnen
?/. 4 c.454A>T CYP4A22*2;*5 r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - rs2056899 Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*3B;*12B r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 - rs2056899 Germline - 9/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*3C;*8 r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 - rs2056899 Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*3D;*5 r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - rs2056899 Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 study of 191 Japanese individuals ? - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*3E;*15 r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - rs2056899 Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*4;*11 r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - rs2056899 Germline - 3/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*4;*12B r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - rs2056899 Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*3A;*12B r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*5;*9 r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 5/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*5;*12A r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*5;*12B r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 26/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*5;*13A r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 8/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*5;*13B r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*5;*15 r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 36/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*6;*14 r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*7;*15 r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*9;*12A r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*9;*12B r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 2/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*9:*15 r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 4/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*10;*10 r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*12A;12B r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 2/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*12A;*15 r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*12B;*12B r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 10/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*12B;*13B r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*12B;*15 r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 21/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
?/. 4 c.454A>T CYP4A22*13B;*13B r.(?) p.(Asn152Tyr) Both (homozygous) - VUS g.47607851A>T g.47142179A>T A4694T - CYP4A22_000001 - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 - - Germline - 1/191 individuals - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Hiratsuka 2006, Journal: Hiratsuka 2006 study of 191 Japanese individuals - - Japan - - - - - 1 Laura Martín Montañez
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