| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-16460049-G-A | EPHA2 | c.1791C>T | p.Pro597Pro | Synonymous | 10/17 | - |
| 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 | - |
| 1-16464353-T-C | EPHA2 | c.1307A>G | p.Gln436Arg | Missense | 5/17 | - |
| 1-16475125-G-A | EPHA2 | c.571C>T | p.Leu191Leu | Synonymous | 3/17 | - |
| 1-16456822-C-G | EPHA2 | c.2568G>C | p.Gln856His | Missense | 15/17 | - |
| 1-16456009-G-A | EPHA2 | c.2745C>T | p.Ser915Ser | Synonymous | 16/17 | - |
| 1-16475162-G-A | EPHA2 | c.534C>T | p.Phe178Phe | Synonymous | 3/17 | - |
| 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 | - |
| 1-16458257-T-C | EPHA2 | c.2434A>G | p.Thr812Ala | Missense | 14/17 | - |
| 1-16464614-G-A | EPHA2 | c.1046C>T | p.Thr349Met | Missense | 5/17 | - |
| 1-16464621-G-A | EPHA2 | c.1039C>T | p.Arg347Cys | Missense | 5/17 | - |
| 1-16475184-C-T | EPHA2 | c.512G>A | p.Gly171Glu | Missense | 3/17 | - |
| 17-7579579-C-T | TP53 | c.108G>A | p.Pro36Pro | Synonymous | 4/11 | - |
| 17-7572996-G-T | TP53 | c.1113C>A | p.Ser371Ser | Synonymous | 11/11 | - |
| 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 | - |
| 1-16464571-G-A | EPHA2 | c.1089C>T | p.Ser363Ser | Synonymous | 5/17 | - |
| 1-16464673-G-T | EPHA2 | c.987C>A | p.Pro329Pro | Synonymous | 5/17 | - |
| 1-16464673-G-C | EPHA2 | c.987C>G | p.Pro329Pro | Synonymous | 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 | - |
| 1-16475177-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 | - |
| 1-16456763-C-T | EPHA2 | c.2627G>A | p.Arg876His | Missense | 15/17 | - |
| 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 | - |
| 1-16464665-G-A | EPHA2 | c.995C>T | p.Pro332Leu | Missense | 5/17 | - |
| 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 | - |
| 1-16462261-G-C | EPHA2 | c.1317C>G | p.Pro439Pro | Synonymous | 6/17 | - |
| 1-16475173-G-A | EPHA2 | c.523C>T | p.Arg175Cys | Missense | 3/17 | - |
| 1-16464513-C-T | EPHA2 | c.1147G>A | p.Val383Met | Missense | 5/17 | - |
| 1-16451815-G-A | EPHA2 | c.2826C>T | p.Asp942Asp | Synonymous | 17/17 | - |
| 1-16462219-G-A | EPHA2 | c.1359C>T | p.Ser453Ser | Synonymous | 6/17 | - |
| 1-16459729-T-C | EPHA2 | c.1999A>G | p.Met667Val | Missense | 11/17 | - |
| 1-16464664-T-G | EPHA2 | c.996A>C | p.Pro332Pro | Synonymous | 5/17 | - |
| 1-16458598-G-A | EPHA2 | c.2286C>T | p.Arg762Arg | Synonymous | 13/17 | - |
| 1-16475108-G-T | EPHA2 | c.588C>A | p.Val196Val | Synonymous | 3/17 | - |
| 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-C | EPHA2 | c.1005C>G | p.Leu335Leu | Synonymous | 5/17 | - |
| 1-16475123-C-T | EPHA2 | c.573G>A | p.Leu191Leu | Synonymous | 3/17 | - |
| 1-16458339-G-A | EPHA2 | c.2352C>T | p.Thr784Thr | Synonymous | 14/17 | - |
| 1-16456070-A-G | EPHA2 | c.2684T>C | p.Leu895Pro | Missense | 16/17 | - |
| 1-16464622-C-G | EPHA2 | c.1038G>C | p.Leu346Leu | Synonymous | 5/17 | - |
| 1-16461024-C-T | EPHA2 | c.1621G>A | p.Val541Met | Missense | 8/17 | - |
| 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-T | EPHA2 | c.1005C>A | p.Leu335Leu | Synonymous | 5/17 | - |
| 1-16475123-C-G | EPHA2 | c.573G>C | p.Leu191Leu | Synonymous | 3/17 | - |
| 1-16464622-C-T | EPHA2 | c.1038G>A | p.Leu346Leu | Synonymous | 5/17 | - |
| 1-16458352-G-A | EPHA2 | c.2339C>T | p.Pro780Leu | Missense | 14/17 | - |
| 1-16456014-C-A | EPHA2 | c.2740G>T | p.Glu914* | Nonsense | 16/17 | - |
| 1-16464607-A-T | EPHA2 | c.1053T>A | p.Pro351Pro | Synonymous | 5/17 | - |
| 1-16462261-G-A | EPHA2 | c.1317C>T | p.Pro439Pro | Synonymous | 6/17 | - |
| 1-16458896-C-T | EPHA2 | c.2092G>A | p.Gly698Arg | Missense | 12/17 | - |
| 1-16458353-G-A | EPHA2 | c.2338C>T | p.Pro780Ser | Missense | 14/17 | - |
| 1-16464641-A-G | EPHA2 | c.1019T>C | p.Met340Thr | Missense | 5/17 | - |
| 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 | - |
| 1-16458365-C-T | EPHA2 | c.2326G>A | p.Gly776Ser | Missense | 14/17 | - |
| 1-16456899-T-C | EPHA2 | c.2491A>G | p.Asn831Asp | Missense | 15/17 | - |
| 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 | - |
| 1-16456804-G-T | EPHA2 | c.2586C>A | p.Pro862Pro | Synonymous | 15/17 | - |
| 1-16459977-T-C | EPHA2 | c.1863A>G | p.Ala621Ala | Synonymous | 10/17 | - |
| 1-16475108-G-A | EPHA2 | c.588C>T | p.Val196Val | Synonymous | 3/17 | - |
| 1-16464917-G-A | EPHA2 | c.832C>T | p.Pro278Ser | Missense | 4/17 | - |
| 1-16458927-G-T | EPHA2 | c.2061C>A | p.Pro687Pro | Synonymous | 12/17 | - |
| 1-16458888-C-T | EPHA2 | c.2100G>A | p.Leu700Leu | Synonymous | 12/17 | - |
| 1-16456822-C-A | EPHA2 | c.2568G>T | p.Gln856His | Missense | 15/17 | - |
| 1-16458896-C-G | EPHA2 | c.2092G>C | p.Gly698Arg | Missense | 12/17 | - |
| 17-7578372-A-G | TP53 | c.558T>C | p.Asp186Asp | Synonymous | 5/11 | - |
| 1-16474897-C-T | EPHA2 | c.799G>A | p.Glu267Lys | Missense | 3/17 | - |
| 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 | - |
| 1-16458598-G-T | EPHA2 | c.2286C>A | p.Arg762Arg | Synonymous | 13/17 | - |
| 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 | - |
| 1-16475269-C-T | EPHA2 | c.427G>A | p.Asp143Asn | Missense | 3/17 | - |
| 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 | - |
| 1-16458579-C-T | EPHA2 | c.2305G>A | p.Glu769Lys | Missense | 13/17 | - |
| 1-16460068-G-A | EPHA2 | c.1772C>T | p.Pro591Leu | Missense | 10/17 | - |
| 1-16475271-A-G | EPHA2 | c.425T>C | p.Ile142Thr | Missense | 3/17 | - |
| 1-16456804-G-C | EPHA2 | c.2586C>G | p.Pro862Pro | Synonymous | 15/17 | - |
| 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 | - |
| 1-16456068-G-A | EPHA2 | c.2686C>T | p.Pro896Ser | Missense | 16/17 | - |
| 1-16475091-G-A | EPHA2 | c.605C>T | p.Pro202Leu | Missense | 3/17 | - |
| 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 | - |
| 17-7578212-G-T | TP53 | c.637C>A | p.Arg213Arg | Synonymous | 6/11 | - |
| 1-16464666-G-A | EPHA2 | c.994C>T | p.Pro332Ser | Missense | 5/17 | - |
| 1-16464616-C-T | EPHA2 | c.1044G>A | p.Trp348* | Nonsense | 5/17 | - |
| 1-16458893-C-T | EPHA2 | c.2095G>A | p.Ala699Thr | Missense | 12/17 | - |
| 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 | - |
| 1-16460407-C-T | EPHA2 | c.1686G>A | p.Arg562Arg | Synonymous | 9/17 | - |
| 1-16456721-C-T | EPHA2 | c.2669G>A | p.Arg890His | Missense | 15/17 | - |
| 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 | - |
| 17-7577149-A-G | TP53 | c.789T>C | p.Asn263Asn | Synonymous | 8/11 | - |
| 1-16456039-G-T | EPHA2 | c.2715C>A | p.Pro905Pro | Synonymous | 16/17 | - |
| 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 | - |
| 1-16464553-G-A | EPHA2 | c.1107C>T | p.Cys369Cys | Synonymous | 5/17 | - |
| 1-16458703-C-G | EPHA2 | c.2181G>C | p.Met727Ile | Missense | 13/17 | - |
| 1-16464354-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 | - |
| 1-16456045-C-T | EPHA2 | c.2709G>A | p.Gly903Gly | Synonymous | 16/17 | - |
| 1-16462261-G-T | EPHA2 | c.1317C>A | p.Pro439Pro | Synonymous | 6/17 | - |
| 1-16460030-A-G | EPHA2 | c.1810T>C | p.Phe604Leu | Missense | 10/17 | - |
| 1-16460028-G-C | EPHA2 | c.1812C>G | p.Phe604Leu | Missense | 10/17 | - |
| 1-16460028-G-T | EPHA2 | c.1812C>A | p.Phe604Leu | Missense | 10/17 | - |
| 1-16460409-T-G | EPHA2 | c.1684A>C | p.Arg562Arg | Synonymous | 9/17 | - |
| 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-C | TP53 | c.639A>G | p.Arg213Arg | Synonymous | 6/11 | - |
| 1-16464551-C-T | EPHA2 | c.1109G>A | p.Trp370* | Nonsense | 5/17 | - |
| 17-7578210-T-G | TP53 | c.639A>C | 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 | - |
| 1-16451767-G-A | EPHA2 | c.2874C>T | p.Ile958Ile | Synonymous | 17/17 | - |
| 1-16475451-C-T | EPHA2 | c.245G>A | p.Arg82His | Missense | 3/17 | - |
| 1-16475126-C-T | EPHA2 | c.570G>A | p.Ala190Ala | Synonymous | 3/17 | - |
| 1-16458218-C-T | EPHA2 | c.2473G>A | p.Glu825Lys | Missense | 14/17 | - |
| 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 | - |
| 1-16458249-G-C | EPHA2 | c.2442C>G | p.Gly814Gly | Synonymous | 14/17 | - |
| 1-16456023-C-T | EPHA2 | c.2731G>A | p.Glu911Lys | Missense | 16/17 | - |
| 1-16458645-C-T | EPHA2 | c.2239G>A | p.Val747Ile | Missense | 13/17 | - |
| 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 | - |
| 1-16456016-A-G | EPHA2 | c.2738T>C | p.Leu913Pro | Missense | 16/17 | - |
| 1-16456083-C-T | EPHA2 | c.2671G>A | p.Val891Met | Missense | 16/17 | - |
| 1-16477423-G-C | EPHA2 | c.121C>G | p.Leu41Val | Missense | 2/17 | - |
| 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 | - |
| 1-16456804-G-A | EPHA2 | c.2586C>T | p.Pro862Pro | Synonymous | 15/17 | - |
| 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 | - |
| 1-16464658-G-A | EPHA2 | c.1002C>T | p.Tyr334Tyr | Synonymous | 5/17 | - |
| 1-16475408-A-T | EPHA2 | c.288T>A | p.Ile96Ile | Synonymous | 3/17 | - |
| 1-16458722-C-T | EPHA2 | c.2162G>A | p.Arg721Gln | Missense | 13/17 | - |
| 1-16458703-C-T | EPHA2 | c.2181G>A | p.Met727Ile | 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 | - |
| 1-16458703-C-A | EPHA2 | c.2181G>T | p.Met727Ile | Missense | 13/17 | - |
| 1-16464897-C-T | EPHA2 | c.852G>A | p.Glu284Glu | Synonymous | 4/17 | - |
| 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 | - |
| 1-16459712-G-A | EPHA2 | c.2016C>T | p.His672His | Synonymous | 11/17 | - |
| 1-16464655-G-A | EPHA2 | c.1005C>T | p.Leu335Leu | Synonymous | 5/17 | - |
| 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 | - |
| 1-16459745-G-C | EPHA2 | c.1983C>G | p.Leu661Leu | 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 | - |
| 1-16459745-G-T | EPHA2 | c.1983C>A | p.Leu661Leu | Synonymous | 11/17 | - |
| 1-16459745-G-A | EPHA2 | c.1983C>T | p.Leu661Leu | Synonymous | 11/17 | - |
| 1-16464624-G-A | EPHA2 | c.1036C>T | p.Leu346Leu | Synonymous | 5/17 | - |
| 1-16464625-C-T | EPHA2 | c.1035G>A | p.Glu345Glu | Synonymous | 5/17 | - |
| 1-16475408-A-G | EPHA2 | c.288T>C | p.Ile96Ile | Synonymous | 3/17 | - |
| 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 | - |
| 1-16464622-C-A | EPHA2 | c.1038G>T | p.Leu346Leu | Synonymous | 5/17 | - |
| 1-16475048-G-A | EPHA2 | c.648C>T | p.Ala216Ala | Synonymous | 3/17 | - |
| 1-16475410-T-A | EPHA2 | c.286A>T | p.Ile96Phe | Missense | 3/17 | - |
| 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 | - |
| 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 | - |
| 1-16460401-G-A | EPHA2 | c.1692C>T | p.Asn564Asn | Synonymous | 9/17 | - |
| 1-16460962-C-T | EPHA2 | c.1682+1G>A | - | IntronicSNV | - | 8/16 |
| 17-7577093-C-A | TP53 | c.845G>T | p.Arg282Leu | Missense | 8/11 | - |
| 1-16462157-C-T | EPHA2 | c.1421G>A | p.Arg474His | Missense | 6/17 | - |
| 1-16464822-A-G | EPHA2 | c.927T>C | p.Cys309Cys | Synonymous | 4/17 | - |
| 1-16451767-G-T | EPHA2 | c.2874C>A | p.Ile958Ile | Synonymous | 17/17 | - |
| 1-16459780-C-T | EPHA2 | c.1948G>A | p.Ala650Thr | Missense | 11/17 | - |
| 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 | - |