All variants in the ABCC11 gene

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

120 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 87/126 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 34/126 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 99/99 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 74/74 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 110/119 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 42/52 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 93/118 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 76/111 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 80/103 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 126/166 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 87/126 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 30/58 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 13/30 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 31/56 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 82/153 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 27/50 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 25/48 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 13/48 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 27/48 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 66/128 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 35/48 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 25/49 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 24/57 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/51 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/26 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 31/49 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 22/52 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 12/51 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 7/20 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 12/41 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 17/49 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 18/60 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 10/51 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 9/50 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 24/61 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 8/71 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 6/20 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 11/48 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 4/29 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 5/30 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 6/30 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 2/50 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 5/112 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 2/62 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/7 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/12 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/10 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/38 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/45 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/82 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 9/119 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 10/52 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 21/118 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 33/111 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 9/103 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 36/166 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 35/126 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 25/58 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 15/30 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 23/56 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 60/153 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 17/50 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 17/48 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 25/48 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 18/48 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 51/128 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 10/48 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 18/49 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 24/57 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 10/51 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 13/26 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 10/49 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 24/52 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 24/51 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 12/20 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 23/41 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 20/49 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 25/60 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 29/51 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 16/50 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 0/33 homozygotes PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 2/33 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 27/61 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 40/71 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 8/20 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 23/48 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 18/29 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 14/30 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 11/30 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 34/50 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 0/75 homozygotes PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 14/75 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 45/112 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 25/62 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/7 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 3/12 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 2/10 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 0/10 homozygotes PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 4/10 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 0/10 homozygotes PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 4/10 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 0/42 homozygotes PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 15/42 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 11/38 individuals - 0 - Johan den Dunnen
+/+ 5 c.538G>A r.(?) p.(Gly180Arg) - pathogenic g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 8/45 individuals - 0 - Johan den Dunnen
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