PMID: 31077556

Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Pigment cell & melanoma research
Z Zhong, L Gu, X Zheng, N Ma, Z Wu, J Duan, J Zhang, J Chen
2019-09

68 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-89018081-C-A TYR c.1325C>A p.Ser442Tyr Missense 4/5 -
15-28234746-C-T OCA2 c.1182+1G>A - IntronicSNV - 11/23
11-88924382-C-T TYR c.832C>T p.Arg278* Nonsense 2/5 -
11-88924494-C-G TYR c.944C>G p.Ser315* Nonsense 2/5 -
15-28230312-C-G OCA2 c.1262G>C p.Arg421Pro Missense 13/24 -
11-88911350-C-G TYR c.229C>G p.Arg77Gly Missense 1/5 -
15-28228486-C-T OCA2 c.1503+5G>A - IntronicSNV - 14/23
11-88911142-C-A TYR c.21C>A p.Tyr7* Nonsense 1/5 -
15-28116339-C-CACCG OCA2 c.2204_2205insCGGT p.Ser736Glyfs*6 Frameshift 21/24 -
15-28202804-G-A OCA2 c.1714C>T p.Arg572Cys Missense 16/24 -
15-28116349-G-C OCA2 c.2195C>G p.Ser732* Nonsense 21/24 -
15-28261291-G-T OCA2 c.849C>A p.Ser283Arg Missense 8/24 -
11-88911879-G-A TYR c.758G>A p.Gly253Glu Missense 1/5 -
11-88911467-C-T TYR c.346C>T p.Arg116* Nonsense 1/5 -
15-28211968-C-T OCA2 c.1504G>A p.Gly502Ser Missense 15/24 -
5-33982425-C-G SLC45A2 c.478G>C p.Asp160His Missense 2/7 -
11-88961122-C-G TYR c.1168C>G p.His390Asp Missense 3/5 -
11-88961123-A-G TYR c.1169A>G p.His390Arg Missense 3/5 -
11-88911285-G-A TYR c.164G>A p.Cys55Tyr Missense 1/5 -
15-28090165-GACG-G OCA2 c.2373_2375delCGT p.Val792delVal InFrameDeletion 23/24 -
15-28116379-TA-T OCA2 c.2165delT p.Ile722Lysfs*17 Frameshift 21/24 -
11-88911192-G-A TYR c.71G>A p.Cys24Tyr Missense 1/5 -
11-89017990-C-A TYR c.1234C>A p.Pro412Thr Missense 4/5 -
11-88924446-G-A TYR c.896G>A p.Arg299His Missense 2/5 -
15-28230232-G-A OCA2 c.1342C>T p.Leu448Phe Missense 13/24 -
11-88911350-C-T TYR c.229C>T p.Arg77Trp Missense 1/5 -
5-33982374-C-A SLC45A2 c.529G>T p.Glu177* Nonsense 2/7 -
15-28228568-T-C OCA2 c.1426A>G p.Asn476Asp Missense 14/24 -
5-33954465-C-A SLC45A2 c.1032+1G>T - IntronicSNV - 4/6
15-28116300-C-T OCA2 c.2244G>A p.Met748Ile Missense 21/24 -
11-88911577-CC-C TYR c.456delC p.Ile153*fs*1 Frameshift 1/5 -
11-88924479-C-CC TYR c.929_929dupC p.Arg311Lysfs*7 Frameshift 2/5 -
5-33984556-T-C SLC45A2 c.133A>G p.Arg45Gly Missense 1/7 -
5-33951770-C-T SLC45A2 c.1045G>A p.Gly349Arg Missense 5/7 -
11-88911824-T-C TYR c.703T>C p.Tyr235His Missense 1/5 -
15-28267644-T-C OCA2 c.646+3A>G - IntronicSNV - 6/23
11-89017960-C-T TYR c.1204C>T p.Arg402* Nonsense 4/5 -
11-88911757-A-T TYR c.636A>T p.Arg212Ser Missense 1/5 -
15-28116316-G-A OCA2 c.2228C>T p.Pro743Leu Missense 21/24 -
11-88911693-G-GG TYR c.572_572dupG p.Ser192Ilefs*2 Frameshift 1/5 -
15-28277290-G-A OCA2 c.247C>T p.Gln83* Nonsense 3/24 -
11-88911445-G-A TYR c.324G>A p.Trp108* Nonsense 1/5 -
15-48434406-T-TT SLC24A5 c.1361_1361dupT p.Leu454Phefs*33 Frameshift 9/9 -
14-52156555-A-G FRMD6 c.1A>G p.Met1Val Missense 2/14 -
15-28259956-A-AA OCA2 c.1010_1010dupT p.Leu338Profs*11 Frameshift 9/24 -
15-28273126-G-A OCA2 c.406C>T p.Arg136* Nonsense 4/24 -
14-52187034-G-C FRMD6 c.1262G>C p.Ser421Thr Missense 11/14 -
11-88924487-C-A TYR c.937C>A p.Pro313Thr Missense 2/5 -
11-89018021-G-A TYR c.1265G>A p.Arg422Gln Missense 4/5 -
14-52182112-C-A FRMD6 c.895C>A p.Pro299Thr Missense 10/14 -
14-52182112-C-T FRMD6 c.895C>T p.Pro299Ser Missense 10/14 -
15-28171322-A-C OCA2 c.2030T>G p.Val677Gly Missense 19/24 -
11-88911145-C-A TYR c.24C>A p.Cys8* Nonsense 1/5 -
15-28228553-C-T OCA2 c.1441G>A p.Ala481Thr Missense 14/24 -
11-88911351-G-A TYR c.230G>A p.Arg77Gln Missense 1/5 -
15-28230225-G-A OCA2 c.1349C>T p.Thr450Met Missense 13/24 -
11-88911774-G-A TYR c.653G>A p.Trp218* Nonsense 1/5 -
5-33963840-C-A SLC45A2 c.844G>T p.Glu282* Nonsense 3/7 -
14-52171544-A-T FRMD6 c.425A>T p.Glu142Val Missense 6/14 -
14-52178273-C-T FRMD6 c.715C>T p.Leu239Leu Synonymous 8/14 -
11-89017955-G-T TYR c.1199G>T p.Trp400Leu Missense 4/5 -
14-52179263-G-C FRMD6 c.819G>C p.Val273Val Synonymous 9/14 -
14-52174916-G-A FRMD6 c.655G>A p.Asp219Asn Missense 7/14 -
11-89028369-G-A TYR c.1425G>A p.Trp475* Nonsense 5/5 -
15-28267661-G-A OCA2 c.632C>T p.Pro211Leu Missense 6/24 -
15-28090193-C-T OCA2 c.2344G>A p.Gly782Arg Missense 23/24 -
11-88911683-C-CATTATTATGTGTCAAATTATCCCCC TYR c.562_563insATTATTATGTGTCAAATTATCCCCC p.Leu188Hisfs*14 Frameshift 1/5 -
11-88960991-G-A TYR c.1037G>A p.Gly346Glu Missense 3/5 -