Full data view for gene ABCC11

Information The variants shown are described using the NM_032583.3 transcript reference sequence.

108 entries on 2 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     
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 87/126 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - ? no Japan - - 0 - - 87 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 34/126 individuals - 0 - DNA SEQ - - ? 16444273-EWd2 PubMed: Yoshiura 2006 - - no Japan - - 0 - - 34 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 99/99 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Korea Taegu - 0 - - 99 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 74/74 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - China Han, North, Shanxi - 0 - - 74 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 110/119 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - China Han, North, Jingsu - 0 - - 110 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 42/52 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - China Han, North - 0 - - 42 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 93/118 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - China Han, South, Fujian - 0 - - 93 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 76/111 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - China Han, South, Guangdong - 0 - - 76 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 80/103 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - China Han, South, Hunan - 0 - - 80 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 126/166 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Mongolia Khalkha - 0 - - 126 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 87/126 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Japan Nagasaki - 0 - - 87 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 30/58 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Japan Okinawa - 0 - - 30 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 13/30 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Japan Yonakuni - 0 - - 13 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 31/56 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Japan Hokkaido, Ainu in Nibutani - 0 - - 31 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 82/153 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Viet Nam - - 0 - - 82 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 27/50 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - India Dravidian, Tamil Nadu - 0 - - 27 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 25/48 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Lahu tribe - 0 - - 25 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 13/48 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Shan tribe - 0 - - 13 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 27/48 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Lisu tribe - 0 - - 27 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 66/128 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Thailand Mae-sot, Karen tribe - 0 - - 66 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 35/48 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Hmong tribe - 0 - - 35 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 25/49 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Akha tribe - 0 - - 25 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 24/57 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Mlabri tribe - 0 - - 24 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/51 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Urak Lawoi tribe - 0 - - 1 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/26 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Sakai tribe - 0 - - 1 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 31/49 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Thailand central, Bangkok - 0 - - 31 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 22/52 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Taiwan Yami - 0 - - 22 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 12/51 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Taiwan Ami - 0 - - 12 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 7/20 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Sri Lanka Vedda - 0 - - 7 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 12/41 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Indonesia Dayak, Kalimantan - 0 - - 12 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 17/49 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Indonesia Toraja, Sulawesi - 0 - - 17 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 18/60 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Indonesia Floresia - 0 - - 18 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 10/51 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Indonesia Bugis, Sulawesi - 0 - - 10 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 9/50 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Indonesia Sumban - 0 - - 9 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 24/61 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Malaysia Borneo, north, Sabah - 0 - - 24 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 8/71 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Malaysia Bentong - 0 - - 8 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 6/20 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - United States native north American - 0 - - 6 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 11/48 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Philippines - - 0 - - 11 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 4/29 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - - East Islander - 0 - - 4 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 5/30 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Bolivia - - 0 - - 5 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 6/30 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Kazakhstan Kazakh - 0 - - 6 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 2/50 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Paraguay native, Ayoreos - 0 - - 2 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 5/112 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Russian Federation - - 0 - - 5 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 2/62 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Solomon Islands - - 0 - - 2 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/7 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - - Pacific islandes - 0 - - 1 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/12 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - France - - 0 - - 1 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/10 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - - South America, Andes - 0 - - 1 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/38 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Papua New Guinea - - 0 - - 1 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/45 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - Vanuatu Aneityum - 0 - - 1 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/82 individuals - 0 - DNA SEQ - - ear wax dry 16444273-pops PubMed: Yoshiura 2006 - - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 9/119 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - China Han, North, Jingsu - 0 - - 9 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 10/52 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - China Han, North - 0 - - 10 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 21/118 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - China Han, South, Fujian - 0 - - 21 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 33/111 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - China Han, South, Guangdong - 0 - - 33 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 9/103 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - China Han, South, Hunan - 0 - - 9 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 36/166 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Mongolia Khalkha - 0 - - 36 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 35/126 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Japan Nagasaki - 0 - - 35 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 25/58 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Japan Okinawa - 0 - - 25 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 15/30 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Japan Yonakuni - 0 - - 15 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 23/56 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Japan Hokkaido, Ainu in Nibutani - 0 - - 23 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 60/153 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Viet Nam - - 0 - - 60 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 17/50 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - India Dravidian, Tamil Nadu - 0 - - 17 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 17/48 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Lahu tribe - 0 - - 17 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 25/48 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Shan tribe - 0 - - 25 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 18/48 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Lisu tribe - 0 - - 18 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 51/128 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Thailand Mae-sot, Karen tribe - 0 - - 51 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 10/48 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Hmong tribe - 0 - - 10 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 18/49 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Akha tribe - 0 - - 18 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 24/57 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Mlabri tribe - 0 - - 24 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 10/51 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Urak Lawoi tribe - 0 - - 10 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 13/26 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Thailand North, Sakai tribe - 0 - - 13 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 10/49 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Thailand central, Bangkok - 0 - - 10 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 24/52 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Taiwan Yami - 0 - - 24 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 24/51 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Taiwan Ami - 0 - - 24 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 12/20 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Sri Lanka Vedda - 0 - - 12 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 23/41 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Indonesia Dayak, Kalimantan - 0 - - 23 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 20/49 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Indonesia Toraja, Sulawesi - 0 - - 20 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 25/60 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Indonesia Floresia - 0 - - 25 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 29/51 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Indonesia Bugis, Sulawesi - 0 - - 29 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 16/50 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Indonesia Sumban - 0 - - 16 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 0/33 homozygotes PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 2/33 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Indonesia Dani, Irian Jaya - 0 - - 2 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 27/61 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Malaysia Borneo, north, Sabah - 0 - - 27 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 40/71 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Malaysia Bentong - 0 - - 40 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 8/20 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - United States native north American - 0 - - 8 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 23/48 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Philippines - - 0 - - 23 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 18/29 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - - East Islander - 0 - - 18 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 14/30 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Bolivia - - 0 - - 14 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 11/30 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Kazakhstan Kazakh - 0 - - 11 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 34/50 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Paraguay native, Ayoreos - 0 - - 34 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 0/75 homozygotes PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 14/75 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Paraguay native, Sanapana - 0 - - 14 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 45/112 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Russian Federation - - 0 - - 45 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 25/62 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Solomon Islands - - 0 - - 25 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/7 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - - Pacific islandes - 0 - - 1 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 3/12 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - France - - 0 - - 3 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 2/10 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - - South America, Andes - 0 - - 2 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 0/10 homozygotes PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 4/10 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Hungary - - 0 - - 4 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 0/10 homozygotes PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 4/10 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - - Jew, Ashkenazi - 0 - - 4 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 0/42 homozygotes PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 15/42 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Ukraine - - 0 - - 15 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 11/38 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Papua New Guinea - - 0 - - 11 Johan den Dunnen
+/+ 5 c.538G>A - r.(?) p.(Gly180Arg) Parent #1 g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 8/45 individuals - 0 - DNA SEQ - - ? 16444273-pops PubMed: Yoshiura 2006 - - - Vanuatu Aneityum - 0 - - 8 Johan den Dunnen
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