PMID: 29267365

Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

PloS one
TM Bennett, O M'Hamdi, JF Hejtmancik, A Shiels
2017

208 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-16475125-G-A EPHA2 c.571C>T p.Leu191Leu Synonymous 3/17 -
1-16464353-T-C EPHA2 c.1307A>G p.Gln436Arg Missense 5/17 -
1-16456822-C-G EPHA2 c.2568G>C p.Gln856His Missense 15/17 -
1-16475162-G-A EPHA2 c.534C>T p.Phe178Phe Synonymous 3/17 -
1-16456009-G-A EPHA2 c.2745C>T p.Ser915Ser Synonymous 16/17 -
1-16464608-G-A EPHA2 c.1052C>T p.Pro351Leu Missense 5/17 -
1-16455960-C-T EPHA2 c.2794G>A p.Ala932Thr Missense 16/17 -
1-16475184-C-T EPHA2 c.512G>A p.Gly171Glu Missense 3/17 -
1-16458257-T-C EPHA2 c.2434A>G p.Thr812Ala Missense 14/17 -
1-16464614-G-A EPHA2 c.1046C>T p.Thr349Met Missense 5/17 -
17-7579579-C-T TP53 c.108G>A p.Pro36Pro Synonymous 4/11 -
1-16464621-G-A EPHA2 c.1039C>T p.Arg347Cys Missense 5/17 -
17-7572996-G-T TP53 c.1113C>A p.Ser371Ser Synonymous 11/11 -
1-16464673-G-T EPHA2 c.987C>A p.Pro329Pro Synonymous 5/17 -
1-16462264-C-T EPHA2 c.1314G>A p.Glu438Glu Synonymous 6/17 -
1-16459847-C-G EPHA2 c.1881G>C p.Val627Val Synonymous 11/17 -
1-16459847-C-A EPHA2 c.1881G>T p.Val627Val Synonymous 11/17 -
1-16459847-C-T EPHA2 c.1881G>A p.Val627Val Synonymous 11/17 -
1-16464673-G-C EPHA2 c.987C>G p.Pro329Pro Synonymous 5/17 -
1-16464513-C-T EPHA2 c.1147G>A p.Val383Met Missense 5/17 -
14-31035946-A-G G2E3 c.-5+7468A>G - intron_variant - 1/14
1-16461003-G-A EPHA2 c.1642C>T p.Leu548Phe Missense 8/17 -
1-16456009-G-T EPHA2 c.2745C>A p.Ser915Ser Synonymous 16/17 -
1-16456009-G-C EPHA2 c.2745C>G p.Ser915Ser Synonymous 16/17 -
1-16464571-G-A EPHA2 c.1089C>T p.Ser363Ser Synonymous 5/17 -
1-16464498-G-A EPHA2 c.1162C>T p.Pro388Ser Missense 5/17 -
1-16464610-G-T EPHA2 c.1050C>A p.Pro350Pro Synonymous 5/17 -
1-16464610-G-A EPHA2 c.1050C>T p.Pro350Pro Synonymous 5/17 -
1-16464610-G-C EPHA2 c.1050C>G p.Pro350Pro Synonymous 5/17 -
1-16456763-C-T EPHA2 c.2627G>A p.Arg876His Missense 15/17 -
1-16464790-G-A EPHA2 c.959C>T p.Pro320Leu Missense 4/17 -
1-16458309-G-A EPHA2 c.2382C>T p.Phe794Phe Synonymous 14/17 -
1-16475177-G-T EPHA2 c.519C>A p.Leu173Leu Synonymous 3/17 -
1-16475177-G-A EPHA2 c.519C>T p.Leu173Leu Synonymous 3/17 -
1-16475177-G-C EPHA2 c.519C>G p.Leu173Leu Synonymous 3/17 -
1-16464665-G-A EPHA2 c.995C>T p.Pro332Leu Missense 5/17 -
1-16462261-G-C EPHA2 c.1317C>G p.Pro439Pro Synonymous 6/17 -
1-16451815-G-A EPHA2 c.2826C>T p.Asp942Asp Synonymous 17/17 -
1-16459729-T-C EPHA2 c.1999A>G p.Met667Val Missense 11/17 -
1-16462219-G-A EPHA2 c.1359C>T p.Ser453Ser Synonymous 6/17 -
1-16464664-T-G EPHA2 c.996A>C p.Pro332Pro Synonymous 5/17 -
1-16475173-G-A EPHA2 c.523C>T p.Arg175Cys Missense 3/17 -
1-16464622-C-G EPHA2 c.1038G>C p.Leu346Leu Synonymous 5/17 -
1-16464607-A-C EPHA2 c.1053T>G p.Pro351Pro Synonymous 5/17 -
1-16464607-A-G EPHA2 c.1053T>C p.Pro351Pro Synonymous 5/17 -
1-16464655-G-T EPHA2 c.1005C>A p.Leu335Leu Synonymous 5/17 -
1-16475123-C-T EPHA2 c.573G>A p.Leu191Leu Synonymous 3/17 -
1-16456070-A-G EPHA2 c.2684T>C p.Leu895Pro Missense 16/17 -
1-16464622-C-T EPHA2 c.1038G>A p.Leu346Leu Synonymous 5/17 -
1-16458598-G-A EPHA2 c.2286C>T p.Arg762Arg Synonymous 13/17 -
1-16458692-G-A EPHA2 c.2192C>T p.Ala731Val Missense 13/17 -
1-16458598-G-C EPHA2 c.2286C>G p.Arg762Arg Synonymous 13/17 -
1-16451737-C-G EPHA2 c.2904G>C p.Gln968His Missense 17/17 -
1-16464655-G-C EPHA2 c.1005C>G p.Leu335Leu Synonymous 5/17 -
1-16475123-C-G EPHA2 c.573G>C p.Leu191Leu Synonymous 3/17 -
1-16458339-G-A EPHA2 c.2352C>T p.Thr784Thr Synonymous 14/17 -
1-16456014-C-A EPHA2 c.2740G>T p.Glu914* Nonsense 16/17 -
1-16461024-C-T EPHA2 c.1621G>A p.Val541Met Missense 8/17 -
1-16458352-G-A EPHA2 c.2339C>T p.Pro780Leu Missense 14/17 -
1-16475108-G-T EPHA2 c.588C>A p.Val196Val Synonymous 3/17 -
1-16462261-G-A EPHA2 c.1317C>T p.Pro439Pro Synonymous 6/17 -
1-16464607-A-T EPHA2 c.1053T>A p.Pro351Pro Synonymous 5/17 -
1-16459977-T-C EPHA2 c.1863A>G p.Ala621Ala Synonymous 10/17 -
1-16458353-G-A EPHA2 c.2338C>T p.Pro780Ser Missense 14/17 -
1-16464617-C-T EPHA2 c.1043G>A p.Trp348* Nonsense 5/17 -
1-16475374-A-G EPHA2 c.322T>C p.Phe108Leu Missense 3/17 -
1-16464673-G-A EPHA2 c.987C>T p.Pro329Pro Synonymous 5/17 -
1-16464490-G-A EPHA2 c.1170C>T p.His390His Synonymous 5/17 -
1-16456899-T-C EPHA2 c.2491A>G p.Asn831Asp Missense 15/17 -
1-16456804-G-T EPHA2 c.2586C>A p.Pro862Pro Synonymous 15/17 -
1-16464641-A-G EPHA2 c.1019T>C p.Met340Thr Missense 5/17 -
1-16458896-C-T EPHA2 c.2092G>A p.Gly698Arg Missense 12/17 -
1-16464480-G-A EPHA2 c.1180C>T p.Arg394Cys Missense 5/17 -
1-16464489-C-T EPHA2 c.1171G>A p.Gly391Arg Missense 5/17 -
1-16458911-C-T EPHA2 c.2077G>A p.Glu693Lys Missense 12/17 -
1-16464583-G-A EPHA2 c.1077C>T p.Asp359Asp Synonymous 5/17 -
1-16475108-G-A EPHA2 c.588C>T p.Val196Val Synonymous 3/17 -
1-16458598-G-T EPHA2 c.2286C>A p.Arg762Arg Synonymous 13/17 -
1-16464917-G-A EPHA2 c.832C>T p.Pro278Ser Missense 4/17 -
1-16458927-G-C EPHA2 c.2061C>G p.Pro687Pro Synonymous 12/17 -
1-16458927-G-A EPHA2 c.2061C>T p.Pro687Pro Synonymous 12/17 -
1-16458927-G-T EPHA2 c.2061C>A p.Pro687Pro Synonymous 12/17 -
1-16475269-C-T EPHA2 c.427G>A p.Asp143Asn Missense 3/17 -
1-16458888-C-T EPHA2 c.2100G>A p.Leu700Leu Synonymous 12/17 -
1-16464600-T-C EPHA2 c.1060A>G p.Ser354Gly Missense 5/17 -
1-16458888-C-A EPHA2 c.2100G>T p.Leu700Leu Synonymous 12/17 -
1-16458888-C-G EPHA2 c.2100G>C p.Leu700Leu Synonymous 12/17 -
1-16464666-G-A EPHA2 c.994C>T p.Pro332Ser Missense 5/17 -
1-16458365-C-T EPHA2 c.2326G>A p.Gly776Ser Missense 14/17 -
1-16456822-C-A EPHA2 c.2568G>T p.Gln856His Missense 15/17 -
1-16458579-C-T EPHA2 c.2305G>A p.Glu769Lys Missense 13/17 -
1-16460068-G-A EPHA2 c.1772C>T p.Pro591Leu Missense 10/17 -
1-16474897-C-T EPHA2 c.799G>A p.Glu267Lys Missense 3/17 -
1-16456804-G-C EPHA2 c.2586C>G p.Pro862Pro Synonymous 15/17 -
1-16456068-G-A EPHA2 c.2686C>T p.Pro896Ser Missense 16/17 -
17-7578212-G-T TP53 c.637C>A p.Arg213Arg Synonymous 6/11 -
1-16458896-C-G EPHA2 c.2092G>C p.Gly698Arg Missense 12/17 -
1-16475271-A-G EPHA2 c.425T>C p.Ile142Thr Missense 3/17 -
17-7578372-A-G TP53 c.558T>C p.Asp186Asp Synonymous 5/11 -
1-16459977-T-A EPHA2 c.1863A>T p.Ala621Ala Synonymous 10/17 -
1-16459977-T-G EPHA2 c.1863A>C p.Ala621Ala Synonymous 10/17 -
1-16458240-G-A EPHA2 c.2451C>T p.Pro817Pro Synonymous 14/17 -
1-16458240-G-C EPHA2 c.2451C>G p.Pro817Pro Synonymous 14/17 -
1-16458240-G-T EPHA2 c.2451C>A p.Pro817Pro Synonymous 14/17 -
1-16458893-C-T EPHA2 c.2095G>A p.Ala699Thr Missense 12/17 -
1-16464616-C-T EPHA2 c.1044G>A p.Trp348* Nonsense 5/17 -
1-16456749-G-A EPHA2 c.2641C>T p.Leu881Phe Missense 15/17 -
1-16464529-C-G EPHA2 c.1131G>C p.Gly377Gly Synonymous 5/17 -
1-16464529-C-A EPHA2 c.1131G>T p.Gly377Gly Synonymous 5/17 -
1-16464529-C-T EPHA2 c.1131G>A p.Gly377Gly Synonymous 5/17 -
1-16456039-G-T EPHA2 c.2715C>A p.Pro905Pro Synonymous 16/17 -
1-16461007-G-A EPHA2 c.1638C>T p.Val546Val Synonymous 8/17 -
1-16461007-G-C EPHA2 c.1638C>G p.Val546Val Synonymous 8/17 -
1-16461007-G-T EPHA2 c.1638C>A p.Val546Val Synonymous 8/17 -
17-7577149-A-G TP53 c.789T>C p.Asn263Asn Synonymous 8/11 -
1-16460028-G-C EPHA2 c.1812C>G p.Phe604Leu Missense 10/17 -
1-16475123-C-A EPHA2 c.573G>T p.Leu191Leu Synonymous 3/17 -
1-16475446-T-C EPHA2 c.250A>G p.Asn84Asp Missense 3/17 -
1-16460407-C-T EPHA2 c.1686G>A p.Arg562Arg Synonymous 9/17 -
1-16464553-G-A EPHA2 c.1107C>T p.Cys369Cys Synonymous 5/17 -
1-16458703-C-G EPHA2 c.2181G>C p.Met727Ile Missense 13/17 -
1-16456721-C-T EPHA2 c.2669G>A p.Arg890His Missense 15/17 -
1-16475091-G-A EPHA2 c.605C>T p.Pro202Leu Missense 3/17 -
1-16456045-C-T EPHA2 c.2709G>A p.Gly903Gly Synonymous 16/17 -
1-16460030-A-G EPHA2 c.1810T>C p.Phe604Leu Missense 10/17 -
1-16464354-G-A EPHA2 c.1306C>T p.Gln436* Nonsense 5/17 -
1-16456045-C-A EPHA2 c.2709G>T p.Gly903Gly Synonymous 16/17 -
1-16456045-C-G EPHA2 c.2709G>C p.Gly903Gly Synonymous 16/17 -
1-16460028-G-T EPHA2 c.1812C>A p.Phe604Leu Missense 10/17 -
1-16462261-G-T EPHA2 c.1317C>A p.Pro439Pro Synonymous 6/17 -
1-16460409-T-G EPHA2 c.1684A>C p.Arg562Arg Synonymous 9/17 -
1-16464551-C-T EPHA2 c.1109G>A p.Trp370* Nonsense 5/17 -
17-7578210-T-A TP53 c.639A>T p.Arg213Arg Synonymous 6/11 -
1-16475144-A-G EPHA2 c.552T>C p.Asp184Asp Synonymous 3/17 -
17-7578210-T-G TP53 c.639A>C p.Arg213Arg Synonymous 6/11 -
17-7578210-T-C TP53 c.639A>G p.Arg213Arg Synonymous 6/11 -
1-16458763-C-T EPHA2 c.2121G>A p.Lys707Lys Synonymous 13/17 -
1-16464596-C-T EPHA2 c.1064G>A p.Gly355Glu Missense 5/17 -
1-16456016-A-G EPHA2 c.2738T>C p.Leu913Pro Missense 16/17 -
1-16451767-G-A EPHA2 c.2874C>T p.Ile958Ile Synonymous 17/17 -
1-16458249-G-C EPHA2 c.2442C>G p.Gly814Gly Synonymous 14/17 -
1-16456023-C-T EPHA2 c.2731G>A p.Glu911Lys Missense 16/17 -
1-16477406-G-A EPHA2 c.138C>T p.His46His Synonymous 2/17 -
1-16464664-T-C EPHA2 c.996A>G p.Pro332Pro Synonymous 5/17 -
1-16464664-T-A EPHA2 c.996A>T p.Pro332Pro Synonymous 5/17 -
1-16475451-C-T EPHA2 c.245G>A p.Arg82His Missense 3/17 -
1-16458218-C-T EPHA2 c.2473G>A p.Glu825Lys Missense 14/17 -
1-16475126-C-T EPHA2 c.570G>A p.Ala190Ala Synonymous 3/17 -
17-7577053-A-G TP53 c.885T>C p.Pro295Pro Synonymous 8/11 -
1-16464550-C-T EPHA2 c.1110G>A p.Trp370* Nonsense 5/17 -
1-16458249-G-T EPHA2 c.2442C>A p.Gly814Gly Synonymous 14/17 -
1-16458645-C-T EPHA2 c.2239G>A p.Val747Ile Missense 13/17 -
1-16477423-G-C EPHA2 c.121C>G p.Leu41Val Missense 2/17 -
1-16456083-C-T EPHA2 c.2671G>A p.Val891Met Missense 16/17 -
1-16455972-C-T EPHA2 c.2782G>A p.Ala928Thr Missense 16/17 -
1-16458890-G-A EPHA2 c.2098C>T p.Leu700Leu Synonymous 12/17 -
1-16458703-C-T EPHA2 c.2181G>A p.Met727Ile Missense 13/17 -
1-16460066-G-A EPHA2 c.1774C>T p.His592Tyr Missense 10/17 -
1-16451809-G-T EPHA2 c.2832C>A p.Ile944Ile Synonymous 17/17 -
1-16451809-G-A EPHA2 c.2832C>T p.Ile944Ile Synonymous 17/17 -
1-16456804-G-A EPHA2 c.2586C>T p.Pro862Pro Synonymous 15/17 -
1-16475408-A-T EPHA2 c.288T>A p.Ile96Ile Synonymous 3/17 -
1-16464658-G-A EPHA2 c.1002C>T p.Tyr334Tyr Synonymous 5/17 -
1-16458722-C-T EPHA2 c.2162G>A p.Arg721Gln Missense 13/17 -
1-16456039-G-A EPHA2 c.2715C>T p.Pro905Pro Synonymous 16/17 -
1-16456039-G-C EPHA2 c.2715C>G p.Pro905Pro Synonymous 16/17 -
1-16464623-A-G EPHA2 c.1037T>C p.Leu346Pro Missense 5/17 -
1-16458249-G-A EPHA2 c.2442C>T p.Gly814Gly Synonymous 14/17 -
1-16475126-C-G EPHA2 c.570G>C p.Ala190Ala Synonymous 3/17 -
1-16475126-C-A EPHA2 c.570G>T p.Ala190Ala Synonymous 3/17 -
1-16456744-C-T EPHA2 c.2646G>A p.Lys882Lys Synonymous 15/17 -
1-16464655-G-A EPHA2 c.1005C>T p.Leu335Leu Synonymous 5/17 -
1-16464897-C-T EPHA2 c.852G>A p.Glu284Glu Synonymous 4/17 -
1-16459712-G-A EPHA2 c.2016C>T p.His672His Synonymous 11/17 -
1-16458703-C-A EPHA2 c.2181G>T p.Met727Ile Missense 13/17 -
1-16475048-G-T EPHA2 c.648C>A p.Ala216Ala Synonymous 3/17 -
1-16459832-C-T EPHA2 c.1896G>A p.Leu632Leu Synonymous 11/17 -
1-16451720-A-G EPHA2 c.2921T>C p.Ile974Thr Missense 17/17 -
1-16456067-G-A EPHA2 c.2687C>T p.Pro896Leu Missense 16/17 -
1-16475048-G-A EPHA2 c.648C>T p.Ala216Ala Synonymous 3/17 -
1-16459745-G-T EPHA2 c.1983C>A p.Leu661Leu Synonymous 11/17 -
1-16459745-G-C EPHA2 c.1983C>G p.Leu661Leu Synonymous 11/17 -
1-16459745-G-A EPHA2 c.1983C>T p.Leu661Leu Synonymous 11/17 -
1-16464625-C-T EPHA2 c.1035G>A p.Glu345Glu Synonymous 5/17 -
1-16464624-G-A EPHA2 c.1036C>T p.Leu346Leu Synonymous 5/17 -
1-16475108-G-C EPHA2 c.588C>G p.Val196Val Synonymous 3/17 -
1-16460050-G-A EPHA2 c.1790C>T p.Pro597Leu Missense 10/17 -
1-16475408-A-G EPHA2 c.288T>C p.Ile96Ile Synonymous 3/17 -
17-7579333-T-A TP53 c.354A>T p.Thr118Thr Synonymous 4/11 -
1-16475540-C-T EPHA2 c.156G>A p.Trp52* Nonsense 3/17 -
1-16475410-T-A EPHA2 c.286A>T p.Ile96Phe Missense 3/17 -
1-16460401-G-A EPHA2 c.1692C>T p.Asn564Asn Synonymous 9/17 -
1-16464822-A-G EPHA2 c.927T>C p.Cys309Cys Synonymous 4/17 -
1-16464622-C-A EPHA2 c.1038G>T p.Leu346Leu Synonymous 5/17 -
17-7577093-C-A TP53 c.845G>T p.Arg282Leu Missense 8/11 -
1-16464609-G-A EPHA2 c.1051C>T p.Pro351Ser Missense 5/17 -
1-16464633-T-C EPHA2 c.1027A>G p.Lys343Glu Missense 5/17 -
1-16462157-C-T EPHA2 c.1421G>A p.Arg474His Missense 6/17 -
1-16460962-C-T EPHA2 c.1682+1G>A - IntronicSNV - 8/16
1-16459780-C-T EPHA2 c.1948G>A p.Ala650Thr Missense 11/17 -
1-16460049-G-A EPHA2 c.1791C>T p.Pro597Pro Synonymous 10/17 -
1-16451767-G-T EPHA2 c.2874C>A p.Ile958Ile Synonymous 17/17 -
1-16464618-A-G EPHA2 c.1042T>C p.Trp348Arg Missense 5/17 -
1-16456871-A-G EPHA2 c.2519T>C p.Met840Thr Missense 15/17 -
1-16475541-C-T EPHA2 c.155G>A p.Trp52* Nonsense 3/17 -
1-16460049-G-C EPHA2 c.1791C>G p.Pro597Pro Synonymous 10/17 -
1-16460049-G-T EPHA2 c.1791C>A p.Pro597Pro Synonymous 10/17 -
1-16451722-C-T EPHA2 c.2919G>A p.Gly973Gly Synonymous 17/17 -