Full data view for gene TAS2R38

Information The variants shown are described using the NM_176817.4 transcript reference sequence.

201 entries on 3 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 c.-992A>G - r.(?) p.(=) Parent #1 - VUS g.141674481T>C g.141974681T>C 8A>G - TAS2R38_000022 - PubMed: Campbell 2012 - - Germline - 0.048 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon pygmy - - - - 1 Johan den Dunnen
?/. _1 c.-926A>C - r.(?) p.(=) Parent #1 - VUS g.141674415T>G g.141974615T>G 74A>C - TAS2R38_000023 - PubMed: Campbell 2012 - - Germline - 0.048 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon pygmy - - - - 1 Johan den Dunnen
?/. _1 c.-924G>C - r.(?) p.(=) Parent #1 - VUS g.141674413C>G g.141974613C>G 76G>C - TAS2R38_000024 - PubMed: Campbell 2012 - - Germline - 0.004 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya Afro-asiatic - - - - 1 Johan den Dunnen
?/. _1 c.-898C>T - r.(?) p.(=) Parent #1 - VUS g.141674387G>A g.141974587G>A 102C>T - TAS2R38_000025 - PubMed: Campbell 2012 - - Germline - 0.017 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-853C>T - r.(?) p.(=) Parent #1 - VUS g.141674342G>A g.141974542G>A 147C>T - TAS2R38_000026 - PubMed: Campbell 2012 - - Germline - 0.012 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya Nilo-Saharan - - - - 1 Johan den Dunnen
?/. _1 c.-848C>T - r.(?) p.(=) Parent #1 - VUS g.141674337G>A g.141974537G>A 152C>T - TAS2R38_000027 - PubMed: Campbell 2012 - - Germline - 0.019 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon Nilo-Saharan - - - - 1 Johan den Dunnen
?/. _1 c.-827A>G - r.(?) p.(=) Parent #1 - VUS g.141674316T>C g.141974516T>C 173A>G - TAS2R38_000028 - PubMed: Campbell 2012 - - Germline - 0.001 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-817C>G - r.(?) p.(=) Parent #1 - VUS g.141674306G>C g.141974506G>C 183C>G - TAS2R38_000029 - PubMed: Campbell 2012 - - Germline - 0.001 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-692A>G - r.(?) p.(=) Parent #1 - VUS g.141674181T>C g.141974381T>C 308A>G - TAS2R38_000030 - PubMed: Campbell 2012 - - Germline - 0.016 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon pygmy - - - - 1 Johan den Dunnen
?/. _1 c.-657A>T - r.(?) p.(=) Parent #1 - VUS g.141674146T>A g.141974346T>A 343A>T - TAS2R38_000031 - PubMed: Campbell 2012 - - Germline - 0.048 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon pygmy - - - - 1 Johan den Dunnen
?/. _1 c.-615G>A - r.(?) p.(=) Parent #1 - VUS g.141674104C>T g.141974304C>T 385G>A - TAS2R38_000032 - PubMed: Campbell 2012 - - Germline - 0.008 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya Afro-asiatic - - - - 1 Johan den Dunnen
?/. _1 c.-608T>A - r.(?) p.(=) Parent #1 - VUS g.141674097A>T g.141974297A>T 392T>A - TAS2R38_000033 - PubMed: Campbell 2012 - - Germline - 0.024 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon Niger-Kordofanian - - - - 1 Johan den Dunnen
?/. _1 c.-607A>T - r.(?) p.(=) Parent #1 - VUS g.141674096T>A g.141974296T>A 393A>T - TAS2R38_000034 - PubMed: Campbell 2012 - rs75675140 Germline - 0.038 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-578T>G - r.(?) p.(=) Parent #1 - VUS g.141674067A>C g.141974267A>C 422T>G - TAS2R38_000035 - PubMed: Campbell 2012 - rs61464348 Germline - 0.078 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-572A>G - r.(?) p.(=) Parent #1 - VUS g.141674061T>C g.141974261T>C 428A>G - TAS2R38_000036 - PubMed: Campbell 2012 - - Germline - 0.021 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-552G>A - r.(?) p.(=) Parent #1 - VUS g.141674041C>T g.141974241C>T 448G>A - TAS2R38_000037 - PubMed: Campbell 2012 - - Germline - 0.008 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-476A>G - r.(?) p.(=) Parent #1 - VUS g.141673965T>C g.141974165T>C 524A>G - TAS2R38_000038 - PubMed: Campbell 2012 - - Germline - 0.001 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-414G>A - r.(?) p.(=) Parent #1 - VUS g.141673903C>T g.141974103C>T 586G>A - TAS2R38_000039 - PubMed: Campbell 2012 - - Germline - 0.048 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon pygmy - - - - 1 Johan den Dunnen
?/. _1 c.-344C>T - r.(?) p.(=) Parent #1 - VUS g.141673833G>A g.141974033G>A 656C>T - TAS2R38_000040 - PubMed: Campbell 2012 - - Germline - 0.005 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-319G>C - r.(?) p.(=) Parent #1 - VUS g.141673808C>G g.141974008C>G 681G>C - TAS2R38_000041 - PubMed: Campbell 2012 - - Germline - 0.038 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-233G>T - r.(?) p.(=) Parent #1 - VUS g.141673722C>A g.141973922C>A 767G>T - TAS2R38_000042 - PubMed: Campbell 2012 - - Germline - 0.048 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon pygmy - - - - 1 Johan den Dunnen
?/. _1 c.-232C>T - r.(?) p.(=) Parent #1 - VUS g.141673721G>A g.141973921G>A 768C>T - TAS2R38_000043 - PubMed: Campbell 2012 - - Germline - 0.007 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon Afro-asiatic - - - - 1 Johan den Dunnen
?/. _1 c.-225G>A - r.(?) p.(=) Parent #1 - VUS g.141673714C>T g.141973914C>T 775G>A - TAS2R38_000044 - PubMed: Campbell 2012 - - Germline - 0.01 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon Fulani - - - - 1 Johan den Dunnen
?/. _1 c.-180C>T - r.(?) p.(=) Parent #1 - VUS g.141673669G>A g.141973869G>A 820C>T - TAS2R38_000045 - PubMed: Campbell 2012 - - Germline - 0.001 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-161C>T - r.(?) p.(=) Parent #1 - VUS g.141673650G>A g.141973850G>A 839C>T - TAS2R38_000046 - PubMed: Campbell 2012 - - Germline - 0.001 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-157C>T - r.(?) p.(=) Parent #1 - VUS g.141673646G>A g.141973846G>A 843C>T - TAS2R38_000047 - PubMed: Campbell 2012 - rs80134535 Germline - 0.015 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-145G>C - r.(?) p.(=) Parent #1 - VUS g.141673634C>G g.141973834C>G 855G>C - TAS2R38_000048 - PubMed: Campbell 2012 - - Germline - 0.017 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. _1 c.-93G>A - r.(?) p.(=) Parent #1 - VUS g.141673582C>T g.141973782C>T 907G>A - TAS2R38_000049 - PubMed: Campbell 2012 - - Germline - 0.008 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - African - - - - 1 Johan den Dunnen
?/. 1 c.-59G>A - r.(?) p.(=) Parent #1 - VUS g.141673548C>T g.141973748C>T 941G>A - TAS2R38_000050 - PubMed: Campbell 2012 - - Germline - 0.004 - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya Afro-asiatic - - - - 1 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Both (homozygous) - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. - - - Germline - 59/73 cases - - - DNA SEQ - - Healthy/Control - PubMed: Kim 2003 - F;M - United States mixed - - - - 59 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Parent #1 - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. PubMed: Kim 2003, OMIM:var0003 - - Germline - 94/200 - - - DNA SEQ - - ? - PubMed: Kim 2003 - F;M - - European - - - - 94 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Parent #1 - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. PubMed: Kim 2003, OMIM:var0003 - - Germline - 15/22 - - - DNA SEQ - - ? - PubMed: Kim 2003 - F;M - - Asia, West - - - - 15 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Parent #1 - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. PubMed: Kim 2003, OMIM:var0003 - - Germline - 17/54 - - - DNA SEQ - - ? - PubMed: Kim 2003 - F;M - - Asia, East - - - - 17 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Parent #1 - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. PubMed: Kim 2003, OMIM:var0003 - - Germline - 6/24 - - - DNA SEQ - - ? - PubMed: Kim 2003 - F;M - - African - - - - 6 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Both (homozygous) - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. PubMed: Kim 2003 - - Germline - 14/73 cases - - - DNA SEQ - - Healthy/Control - PubMed: Kim 2003 - F;M - United States mixed - - - - 14 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Both (homozygous) - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. PubMed: Prody 2004 - - Germline - 40/46 - - - DNA SEQ - - THIOT - PubMed: Prody 2004 - F;M - Italy Sardinia - - - - 40 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Both (homozygous) - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. PubMed: Prody 2004 - - Germline - 6/46 - - - DNA SEQ - - THIOT - PubMed: Prody 2004 - F;M - Italy Sardinia - - - - 6 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Parent #1 - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. - - - Germline - 127/170 cases - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon - - - - - 137 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Parent #1 - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. - - - Germline - 127/170 cases - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania - - - - - 198 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Parent #1 - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. - - - Germline - 127/170 cases - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania Nilo-Saharan - - - - 1 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Parent #1 - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. - - - Germline - 127/170 cases - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - European - - - - 28 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Parent #1 - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. - - - Germline - 127/170 cases - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - American - - - - 4 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Parent #1 - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. - - - Germline - 127/170 cases - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - Middle East - - - - 18 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Parent #1 - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. - - - Germline - 127/170 cases - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Pakistan - - - - - 8 Johan den Dunnen
-/. 1 c.= AVI r.= p.= Parent #1 - benign (recessive) g.= - - - TAS2R38_000000 normal chromosome; AVI haplotype Variant Error [ESYNTAX]: This genomic variant has an error (char 15: expected one of '(', '?', or a digit). Please fix this entry and then remove this message. - - - Germline - 127/170 cases - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - - - - - - 53 Johan den Dunnen
?/. 1 c.17G>A AVI (H21) r.(?) p.(Arg6His) Parent #1 - VUS g.141673473C>T g.141973673C>T 1016G>A - TAS2R38_000013 - PubMed: Campbell 2012 - - Germline - 4/542 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon - - - - - 4 Johan den Dunnen
?/. 1 c.93G>A AAI (H20) r.(?) p.(=) Parent #1 - VUS g.141673397C>T g.141973597C>T 1092G>A (L31L) - TAS2R38_000004 - PubMed: Campbell 2012 - - Germline - 3/542 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon - - - - - 3 Johan den Dunnen
?/. 1 c.106G>A PAV (H19) r.(?) p.(Val36Ile) Parent #1 - VUS g.141673384C>T g.141973584C>T 1105G>A - TAS2R38_000012 - PubMed: Campbell 2012 - - Germline - 6/542 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon pygmy - - - - 6 Johan den Dunnen
+?/. 1 c.145G>C PAV r.(?) p.(Ala49Pro) Both (homozygous) - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 - PubMed: Kim 2003, OMIM:var0001 - rs713598 Germline - 39/170 cases - - - DNA SEQ - - THIOT - PubMed: Kim 2003 - F;M - United States mixed - - - - 39 Johan den Dunnen
+?/. 1 c.145G>C PAV r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 - PubMed: Kim 2003, OMIM:var0001 - rs713598 Germline - 127/170 cases - - - DNA SEQ - - THIOT - PubMed: Kim 2003 - F;M - United States mixed - - - - 127 Johan den Dunnen
+?/. 1 c.145G>C PAV r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 - PubMed: Kim 2003, OMIM:var0001 - rs713598 Germline - 98/200 - - - DNA SEQ - - ? - PubMed: Kim 2003 - F;M - - European - - - - 98 Johan den Dunnen
+?/. 1 c.145G>C PAV r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 - PubMed: Kim 2003, OMIM:var0001 - rs713598 Germline - 7/22 - - - DNA SEQ - - ? - PubMed: Kim 2003 - F;M - - Asia, West - - - - 7 Johan den Dunnen
+?/. 1 c.145G>C PAV r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 - PubMed: Kim 2003, OMIM:var0001 - rs713598 Germline - 37/54 - - - DNA SEQ - - ? - PubMed: Kim 2003 - F;M - - Asia, East - - - - 37 Johan den Dunnen
+?/. 1 c.145G>C PAV r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 - PubMed: Kim 2003, OMIM:var0001 - rs713598 Germline - 12/24 - - - DNA SEQ - - ? - PubMed: Kim 2003 - F;M - - African - - - - 12 Johan den Dunnen
+?/. 1 c.145G>C PAV r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 - PubMed: Kim 2003, OMIM:var0001 - rs713598 Germline - 18/18 - - - DNA SEQ - - ? - PubMed: Kim 2003 - F;M - - American, native - - - - 18 Johan den Dunnen
+?/. 1 c.145G>C PVI r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 - PubMed: Kim 2003, OMIM:var0001 - rs713598 Germline - 1/24 - - - DNA SEQ - - ? - PubMed: Kim 2003 - F;M - - African - - - - 1 Johan den Dunnen
+?/. 1 c.145G>C PAV r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 - PubMed: Kim 2003, OMIM:var0001 - rs713598 Germline - 3/170 cases - - - DNA SEQ - - Healthy/Control - PubMed: Kim 2003 - F;M - United States mixed - - - - 3 Johan den Dunnen
+?/. 1 c.145G>C PAV r.(?) p.(Ala49Pro) Both (homozygous) - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 PAV haplotype; evolutionary original PubMed: Prody 2004 - rs713598 Germline - 3/65 - - - DNA SEQ - - Healthy/Control - PubMed: Prody 2004 - F;M - Italy Sardinia - - - - 3 Johan den Dunnen
+?/. 1 c.145G>C PAV r.(?) p.(Ala49Pro) Both (homozygous) - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 PAV haplotype; evolutionary original PubMed: Prody 2004 - rs713598 Germline - 62/65 - - - DNA SEQ - - THIOT - PubMed: Prody 2004 - F;M - Italy Sardinia - - - - 62 Johan den Dunnen
+?/. 1 c.145G>C PAV r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 PAV haplotype; evolutionary original PubMed: Prody 2004 - rs713598 Germline - 7/96 - - - DNA SEQ - - Healthy/Control - PubMed: Prody 2004 - F;M - Italy Sardinia - - - - 7 Johan den Dunnen
+?/. 1 c.145G>C PAV r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 PAV haplotype; evolutionary original PubMed: Prody 2004 - rs713598 Germline - 89/96 - - - DNA SEQ - - THIOT - PubMed: Campbell 2012 - F;M - Italy Sardinia - - - - 89 Johan den Dunnen
+?/. 1 c.145G>C PAV (H14) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 251/542 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon - - - - - 251 Johan den Dunnen
+?/. 1 c.145G>C PAV (H15) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 1/542 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon Afro-asiatic - - - - 1 Johan den Dunnen
+?/. 1 c.145G>C PAV (H16) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 4/542 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon pygmy - - - - 4 Johan den Dunnen
+?/. 1 c.145G>C PAV (H17) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 1/542 chromosomes - - - DNA SEQ - - ? - - - F;M - Cameroon Afro-asiatic - - - - 1 Johan den Dunnen
+?/. 1 c.145G>C PAV (H14) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 335/680 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania - - - - - 335 Johan den Dunnen
+?/. 1 c.145G>C PAV (H15) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 1/680 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania Nilo-Saharan - - - - 1 Johan den Dunnen
+?/. 1 c.145G>C PAV (H16) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 1/680 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania Afro-asiatic - - - - 1 Johan den Dunnen
+?/. 1 c.145G>C PAV (H17) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 30/680 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania - - - - - 30 Johan den Dunnen
+?/. 1 c.145G>C PAV (H14) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 11/40 chromosomes - - - DNA SEQ - - ? - - - F;M - - European - - - - 11 Johan den Dunnen
+?/. 1 c.145G>C PAV (H14) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 19/26 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - American - - - - 19 Johan den Dunnen
+?/. 1 c.145G>C PAV (H18) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 3/26 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - American - - - - 3 Johan den Dunnen
+?/. 1 c.145G>C PAV (H14) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 20/40 chromosomes - - - DNA SEQ - - ? - - - F;M - - Middle East - - - - 20 Johan den Dunnen
+?/. 1 c.145G>C PAV (H14) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 7/16 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Pakistan - - - - - 7 Johan den Dunnen
+?/. 1 c.145G>C PAV (H14) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 81/142 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - Asiaa, east - - - - 81 Johan den Dunnen
+?/. 1 c.145G>C PAV (H18) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 8/142 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - Asiaa, east - - - - 8 Johan den Dunnen
+?/. 1 c.145G>C - r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 variant originated ago ~1.5My PubMed: Campbell 2012 - rs713598 Germline - 251/542 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - - - - - - 1 Johan den Dunnen
+?/. 1 c.145G>C PAV r.(?) p.(Ala49Pro) Parent #2 - likely benign (dominant) g.141673345C>G g.141973545C>G - - TAS2R38_000001 - PubMed: Kim 2003, OMIM:var0001 - rs713598 Germline - 1/170 cases - - - DNA SEQ - - Healthy/Control - PubMed: Prody 2004 - F;M - United States mixed - - - - 1 Johan den Dunnen
+?/. 1 c.145G>C PAV (H19) r.(?) p.(Ala49Pro) Parent #1 - likely benign (dominant) g.141673345C>G g.141973545C>G 1144C>G - TAS2R38_000001 - PubMed: Campbell 2012 - rs713598 Germline - 6/542 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon pygmy - - - - 6 Johan den Dunnen
?/. 1 c.191G>A AVI (H13) r.(?) p.(Arg64Gln) Parent #1 - VUS g.141673299C>T g.141973499C>T 1190G>A - TAS2R38_000007 - PubMed: Campbell 2012 - - Germline - 6/542 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon - - - - - 6 Johan den Dunnen
?/. 1 c.191G>A AVI (H13) r.(?) p.(Arg64Gln) Parent #1 - VUS g.141673299C>T g.141973499C>T 1190G>A - TAS2R38_000007 - PubMed: Campbell 2012 - - Germline - 1/680 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania Nilo-Saharan - - - - 1 Johan den Dunnen
?/. 1 c.239A>G AAI (H11) r.(?) p.(His80Arg) Parent #1 - VUS g.141673251T>C g.141973451T>C 1238A>G - TAS2R38_000006 - PubMed: Campbell 2012 - - Germline - 1/542 chromosomes - - - DNA SEQ - - ? - - - F;M - Cameroon Afro-asiatic - - - - 1 Johan den Dunnen
?/. 1 c.239A>G AAI (H11) r.(?) p.(His80Arg) Parent #1 - VUS g.141673251T>C g.141973451T>C 1238A>G - TAS2R38_000006 - PubMed: Campbell 2012 - - Germline - 2/680 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania - - - - - 2 Johan den Dunnen
?/. 1 c.239A>G AAI (H12) r.(?) p.(His80Arg) Parent #1 - VUS g.141673251T>C g.141973451T>C 1238A>G - TAS2R38_000006 - PubMed: Campbell 2012 - - Germline - 1/680 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania Nilo-Saharan - - - - 1 Johan den Dunnen
?/. 1 c.362T>C AAI (H10) r.(?) p.(Leu121Pro) Parent #1 - VUS g.141673128A>G g.141973328A>G 1361T>C - TAS2R38_000015 - PubMed: Campbell 2012 - - Germline - 1/680 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania Nilo-Saharan - - - - 1 Johan den Dunnen
?/. 1 c.368G>A AAI (H12) r.(?) p.(Arg123His) Parent #1 - VUS g.141673122C>T g.141973322C>T 1367G>A - TAS2R38_000016 - PubMed: Campbell 2012 - - Germline - 1/680 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania Nilo-Saharan - - - - 1 Johan den Dunnen
?/. 1 c.403T>G AAI (H9) r.(?) p.(Trp135Gly) Parent #1 - VUS g.141673087A>C g.141973287A>C 1402T>G - TAS2R38_000014 - PubMed: Campbell 2012 - - Germline - 7/542 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon - - - - - 7 Johan den Dunnen
?/. 1 c.403T>G AAI (H9) r.(?) p.(Trp135Gly) Parent #1 - VUS g.141673087A>C g.141973287A>C 1402T>G - TAS2R38_000014 - PubMed: Campbell 2012 - - Germline - 27/680 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania - - - - - 27 Johan den Dunnen
?/. 1 c.416A>G PAV (H18) r.(?) p.(Lys139Arg) Parent #1 - VUS g.141673074T>C g.141973274T>C 1415A>G - TAS2R38_000018 - PubMed: Campbell 2012 - - Germline - 3/26 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - American - - - - 3 Johan den Dunnen
?/. 1 c.416A>G PAV (H18) r.(?) p.(Lys139Arg) Parent #1 - VUS g.141673074T>C g.141973274T>C 1415A>G - TAS2R38_000018 - PubMed: Campbell 2012 - - Germline - 8/142 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - - Asiaa, east - - - - 8 Johan den Dunnen
?/. 1 c.569A>G PAV (H17) r.(?) p.(Asn190Ser) Parent #1 - VUS g.141672921T>C g.141973121T>C 1568A>G - TAS2R38_000010 - PubMed: Campbell 2012 - - Germline - 1/542 chromosomes - - - DNA SEQ - - ? - - - F;M - Cameroon Afro-asiatic - - - - 1 Johan den Dunnen
?/. 1 c.569A>G PAV (H17) r.(?) p.(Asn190Ser) Parent #1 - VUS g.141672921T>C g.141973121T>C 1568A>G - TAS2R38_000010 - PubMed: Campbell 2012 - - Germline - 30/680 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania - - - - - 30 Johan den Dunnen
?/. 1 c.649A>C AVI (H8) r.(?) p.(Thr217Pro) Parent #1 - VUS g.141672841T>G g.141973041T>G 1648A>C - TAS2R38_000021 - PubMed: Campbell 2012 - - Germline - 2/542 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon - - - - - 2 Johan den Dunnen
?/. 1 c.704G>A PAV (H16) r.(?) p.(Arg235His) Parent #1 - VUS g.141672786C>T g.141972986C>T 1703G>A - TAS2R38_000009 - PubMed: Campbell 2012 - - Germline - 4/542 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Cameroon pygmy - - - - 4 Johan den Dunnen
?/. 1 c.704G>A PAV (H16) r.(?) p.(Arg235His) Parent #1 - VUS g.141672786C>T g.141972986C>T 1703G>A - TAS2R38_000009 - PubMed: Campbell 2012 - - Germline - 1/680 chromosomes - - - DNA SEQ - - ? - PubMed: Campbell 2012 - F;M - Kenya;Tanzania Afro-asiatic - - - - 1 Johan den Dunnen
+?/. 1 c.785T>C AAV r.(?) p.(Val262Ala) Parent #1 - likely benign (dominant) g.141672705A>G g.141972905A>G - - TAS2R38_000002 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: Kim 2003, OMIM:var0002 - rs1726866 Germline - 10/21 cases - - - DNA SEQ - - THIOT - PubMed: Kim 2003 - F;M - United States mixed - - - - 10 Johan den Dunnen
+?/. 1 c.785T>C AAV r.(?) p.(Val262Ala) Parent #1 - likely benign (dominant) g.141672705A>G g.141972905A>G - - TAS2R38_000002 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: Kim 2003, OMIM:var0002 - rs1726866 Germline - 6/200 - - - DNA SEQ - - ? - PubMed: Kim 2003 - F;M - - European - - - - 6 Johan den Dunnen
+?/. 1 c.785T>C AAV r.(?) p.(Val262Ala) Parent #1 - likely benign (dominant) g.141672705A>G g.141972905A>G - - TAS2R38_000002 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: Kim 2003, OMIM:var0002 - rs1726866 Germline - 1/24 - - - DNA SEQ - - ? - PubMed: Kim 2003 - F;M - - African - - - - 1 Johan den Dunnen
+?/. 1 c.785T>C AAI r.(?) p.(Val262Ala) Parent #1 - likely benign (dominant) g.141672705A>G g.141972905A>G - - TAS2R38_000002 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: Kim 2003, OMIM:var0002 - rs1726866 Germline - 4/24 - - - DNA SEQ - - ? - PubMed: Kim 2003 - F;M - - African - - - - 4 Johan den Dunnen
+?/. 1 c.785T>C AAV r.(?) p.(Val262Ala) Parent #1 - likely benign (dominant) g.141672705A>G g.141972905A>G - - TAS2R38_000002 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: Kim 2003 - rs1726866 Germline - 11/21 cases - - - DNA SEQ - - Healthy/Control - PubMed: Kim 2003 - F;M - United States mixed - - - - 11 Johan den Dunnen
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