OCA2 OCA2 melanosomal transmembrane protein

Canonical transcript: NM_000275

307 unique variant annotations were identified in 180 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
15-28000556-T-G c.2495A>C p.His832Pro Missense 24/24 - 1
15-28001017-A-C c.2433-399T>G - IntronicSNV - 23/23 2
15-28001017-A-T c.2433-399T>A - IntronicSNV - 23/23 2
15-28003789-A-G c.2433-3171T>C - IntronicSNV - 23/23 1
15-28003789-A-T c.2433-3171T>A - IntronicSNV - 23/23 1
15-28006306-C-A c.2433-5688G>T - IntronicSNV - 23/23 2
15-28006306-C-T c.2433-5688G>A - IntronicSNV - 23/23 2
15-28009556-A-G c.2433-8938T>C - IntronicSNV - 23/23 1
15-28011651-G-T c.2433-11033C>A - IntronicSNV - 23/23 1
15-28011894-C-T c.2433-11276G>A - IntronicSNV - 23/23 1
15-28014104-C-T c.2433-13486G>A - IntronicSNV - 23/23 2
15-28018655-G-T c.2433-18037C>A - IntronicSNV - 23/23 1
15-28021888-G-A c.2433-21270C>T - IntronicSNV - 23/23 1
15-28021961-T-A c.2433-21343A>T - IntronicSNV - 23/23 2
15-28021961-T-G c.2433-21343A>C - IntronicSNV - 23/23 2
15-28030000-G-A c.2433-29382C>T - IntronicSNV - 23/23 1
15-28034909-C-T c.2433-34291G>A - IntronicSNV - 23/23 1
15-28037785-T-G c.2433-37167A>C - IntronicSNV - 23/23 1
15-28039251-T-C c.2433-38633A>G - IntronicSNV - 23/23 1
15-28040342-C-T c.2433-39724G>A - IntronicSNV - 23/23 3
15-28040757-A-G c.2433-40139T>C - IntronicSNV - 23/23 1
15-28043390-T-C c.2433-42772A>G - IntronicSNV - 23/23 1
15-28044300-G-T c.2433-43682C>A - IntronicSNV - 23/23 1
15-28044542-G-A c.2433-43924C>T - IntronicSNV - 23/23 2
15-28049304-A-G c.2432+40801T>C - IntronicSNV - 23/23 1
15-28049511-A-G c.2432+40594T>C - IntronicSNV - 23/23 2
15-28049511-A-T c.2432+40594T>A - IntronicSNV - 23/23 2
15-28058908-A-G c.2432+31197T>C - IntronicSNV - 23/23 1
15-28065341-T-A c.2432+24764A>T - IntronicSNV - 23/23 1
15-28072394-C-A c.2432+17711G>T - IntronicSNV - 23/23 1
15-28072394-C-T c.2432+17711G>A - IntronicSNV - 23/23 1
15-28073079-G-A c.2432+17026C>T - IntronicSNV - 23/23 1
15-28075150-G-A c.2432+14955C>T - IntronicSNV - 23/23 1
15-28077160-T-C c.2432+12945A>G - IntronicSNV - 23/23 1
15-28077160-T-G c.2432+12945A>C - IntronicSNV - 23/23 1
15-28080584-A-G c.2432+9521T>C - IntronicSNV - 23/23 1
15-28080692-T-C c.2432+9413A>G - IntronicSNV - 23/23 1
15-28082022-G-A c.2432+8083C>T - IntronicSNV - 23/23 1
15-28082022-G-C c.2432+8083C>G - IntronicSNV - 23/23 1
15-28089565-T-C c.2432+540A>G - IntronicSNV - 23/23 1
15-28089922-C-T c.2432+183G>A - IntronicSNV - 23/23 1
15-28090165-GACG-G c.2373_2375del p.Val792del InFrameDeletion 23/24 - 1
15-28090173-C-T c.2364G>A p.Ser788Ser Synonymous 23/24 - 2
15-28090174-G-A c.2363C>T p.Ser788Leu Missense 23/24 - 1
15-28090177-G-A c.2360C>T p.Ala787Val Missense 23/24 - 3
15-28090177-G-T c.2360C>A p.Ala787Glu Missense 23/24 - 1
15-28090178-C-T c.2359G>A p.Ala787Thr Missense 23/24 - 2
15-28090190-GT-G c.2347del p.Thr783Hisfs*2 Frameshift 23/24 - 1
15-28090193-C-T c.2344G>A p.Gly782Arg Missense 23/24 - 1
15-28090197-A-G c.2340T>C p.Gly780Gly Synonymous 23/24 - 1
15-28096536-C-T c.2330G>A p.Cys777Tyr Missense 22/24 - 1
15-28096537-A-G c.2329T>C p.Cys777Arg Missense 22/24 - 1
15-28096538-A-G c.2328T>C p.Ala776Ala Synonymous 22/24 - 4
15-28096542-C-T c.2324G>A p.Gly775Asp Missense 22/24 - 1
15-28096543-C-T c.2323G>A p.Gly775Ser Missense 22/24 - 1
15-28096556-A-C c.2310T>G p.Tyr770* Nonsense 22/24 - 1
15-28097278-G-A c.2245-657C>T - IntronicSNV - 21/23 1
15-28106137-C-T c.2245-9516G>A - IntronicSNV - 21/23 1
15-28108021-G-A c.2244+8279C>T - IntronicSNV - 21/23 1
15-28108311-G-A c.2244+7989C>T - IntronicSNV - 21/23 1
15-28116275-G-C c.2244+25C>G - IntronicSNV - 21/23 1
15-28116300-C-T c.2244G>A p.Met748Ile Missense 21/24 - 1
15-28116316-G-A c.2228C>T p.Pro743Leu Missense 21/24 - 10
15-28116328-A-G c.2216T>C p.Ile739Thr Missense 21/24 - 1
15-28116336-C-A c.2208G>T p.Ser736Ser Synonymous 21/24 - 2
15-28116336-C-T c.2208G>A p.Ser736Ser Synonymous 21/24 - 2
15-28116337-G-A c.2207C>T p.Ser736Leu Missense 21/24 - 2
15-28116339-C-CACCG c.2204_2205insCGGT p.Ser736Glyfs*6 Frameshift 21/24 - 1
15-28116343-A-C c.2201T>G p.Leu734Arg Missense 21/24 - 1
15-28116343-AG-GC c.2200_2201delinsGC p.Leu734Ala Missense 21/24 - 1
15-28116349-G-C c.2195C>G p.Ser732* Nonsense 21/24 - 2
15-28116364-A-G c.2180T>C p.Leu727Pro Missense 21/24 - 1
15-28116379-A-G c.2165T>C p.Ile722Thr Missense 21/24 - 4
15-28116379-TA-T c.2165del p.Ile722Lysfs*17 Frameshift 21/24 - 1
15-28117070-T-C c.2080-2A>G - IntronicSNV - 19/23 1
15-28131633-A-T c.2080-14565T>A - IntronicSNV - 19/23 2
15-28133374-C-T c.2080-16306G>A - IntronicSNV - 19/23 1
15-28147739-A-G c.2079+23534T>C - IntronicSNV - 19/23 1
15-28148708-C-G c.2079+22565G>C - IntronicSNV - 19/23 1
15-28151351-T-A c.2079+19922A>T - IntronicSNV - 19/23 1
15-28151351-T-C c.2079+19922A>G - IntronicSNV - 19/23 1
15-28153328-T-A c.2079+17945A>T - IntronicSNV - 19/23 1
15-28153328-T-C c.2079+17945A>G - IntronicSNV - 19/23 1
15-28160983-A-G c.2079+10290T>C - IntronicSNV - 19/23 1
15-28171128-A-G c.2079+145T>C - IntronicSNV - 19/23 1
15-28171292-G-A c.2060C>T p.Ala687Val Missense 19/24 - 1
15-28171294-T-A c.2058A>T p.Ala686Ala Synonymous 19/24 - 1
15-28171294-T-G c.2058A>C p.Ala686Ala Synonymous 19/24 - 1
15-28171301-A-C c.2051T>G p.Phe684Cys Missense 19/24 - 1
15-28171315-C-G c.2037G>C p.Trp679Cys Missense 19/24 - 4
15-28171322-A-C c.2030T>G p.Val677Gly Missense 19/24 - 1
15-28171400-C-T c.1952G>A p.Gly651Glu Missense 19/24 - 1
15-28179306-C-A c.1952-7906G>T - IntronicSNV - 18/23 2
15-28179306-C-G c.1952-7906G>C - IntronicSNV - 18/23 2
15-28179603-C-T c.1952-8203G>A - IntronicSNV - 18/23 1
15-28180102-T-C c.1952-8702A>G - IntronicSNV - 18/23 1
15-28183354-C-T c.1952-11954G>A - IntronicSNV - 18/23 3
15-28184527-C-A c.1951+12403G>T - IntronicSNV - 18/23 1
15-28184854-C-T c.1951+12076G>A - IntronicSNV - 18/23 1
15-28185038-G-A c.1951+11892C>T - IntronicSNV - 18/23 2
15-28185038-G-C c.1951+11892C>G - IntronicSNV - 18/23 2
15-28186015-C-T c.1951+10915G>A - IntronicSNV - 18/23 1
15-28186985-G-A c.1951+9945C>T - IntronicSNV - 18/23 1
15-28186985-G-C c.1951+9945C>G - IntronicSNV - 18/23 1
15-28186985-G-T c.1951+9945C>A - IntronicSNV - 18/23 1
15-28187772-A-T c.1951+9158T>A - IntronicSNV - 18/23 7
15-28192224-A-G c.1951+4706T>C - IntronicSNV - 18/23 2
15-28196145-C-T c.1951+785G>A - IntronicSNV - 18/23 1
15-28196821-T-C c.1951+109A>G - IntronicSNV - 18/23 2
15-28196885-C-G c.1951+45G>C - IntronicSNV - 18/23 1
15-28196885-C-T c.1951+45G>A - IntronicSNV - 18/23 1
15-28196929-C-T c.1951+1G>A - IntronicSNV - 18/23 1
15-28196933-G-C c.1948C>G p.Leu650Val Missense 18/24 - 1
15-28196959-G-A c.1922C>T p.Ser641Leu Missense 18/24 - 1
15-28196980-A-T c.1901T>A p.Ile634Asn Missense 18/24 - 2
15-28196984-C-T c.1897G>A p.Val633Ile Missense 18/24 - 1
15-28196994-C-A c.1887G>T p.Val629Val Synonymous 18/24 - 2
15-28197016-A-G c.1865T>C p.Leu622Pro Missense 18/24 - 1
15-28197024-G-A c.1857C>T p.Asp619Asp Synonymous 18/24 - 1
15-28197037-T-A c.1844A>T p.His615Leu Missense 18/24 - 18
15-28197037-T-C c.1844A>G p.His615Arg Missense 18/24 - 33
15-28197039-C-A c.1843-1G>T - IntronicSNV - 17/23 1
15-28199305-A-C c.1842+999T>G - IntronicSNV - 17/23 2
15-28199853-C-A c.1842+451G>T - IntronicSNV - 17/23 5
15-28200042-C-T c.1842+262G>A - IntronicSNV - 17/23 4
15-28200303-C-A c.1842+1G>T - IntronicSNV - 17/23 3
15-28200303-C-T c.1842+1G>A - IntronicSNV - 17/23 1
15-28200306-T-C c.1840A>G p.Lys614Glu Missense 17/24 - 1
15-28200314-A-G c.1832T>C p.Leu611Pro Missense 17/24 - 1
15-28200408-T-C c.1785-47A>G - IntronicSNV - 16/23 3
15-28201001-T-C c.1785-640A>G - IntronicSNV - 16/23 1
15-28202573-G-A c.1784+161C>T - IntronicSNV - 16/23 3
15-28202625-C-A c.1784+109G>T - IntronicSNV - 16/23 1
15-28202625-C-T c.1784+109G>A - IntronicSNV - 16/23 1
15-28202743-G-A c.1775C>T p.Thr592Ile Missense 16/24 - 1
15-28202745-G-A c.1773C>T p.His591His Synonymous 16/24 - 1
15-28202804-G-A c.1714C>T p.Arg572Cys Missense 16/24 - 2
15-28205564-A-G c.1637-2683T>C - IntronicSNV - 15/23 1
15-28208017-G-A c.1636+3819C>T - IntronicSNV - 15/23 1
15-28208734-A-G c.1636+3102T>C - IntronicSNV - 15/23 1
15-28211866-G-A c.1606C>T p.Leu536Phe Missense 15/24 - 1
15-28211880-T-C c.1592A>G p.Tyr531Cys Missense 15/24 - 1
15-28211892-A-C c.1580T>G p.Leu527Arg Missense 15/24 - 1
15-28211916-A-G c.1556T>C p.Val519Ala Missense 15/24 - 1
15-28211921-G-A c.1551C>T p.Cys517Cys Synonymous 15/24 - 4
15-28211968-C-T c.1504G>A p.Gly502Ser Missense 15/24 - 1
15-28213850-C-T c.1504-1882G>A - IntronicSNV - 14/23 2
15-28216857-C-T c.1504-4889G>A - IntronicSNV - 14/23 1
15-28221138-G-A c.1503+7353C>T - IntronicSNV - 14/23 3
15-28226541-C-T c.1503+1950G>A - IntronicSNV - 14/23 1
15-28226949-A-G c.1503+1542T>C - IntronicSNV - 14/23 1
15-28228486-C-T c.1503+5G>A - IntronicSNV - 14/23 1
15-28228529-T-C c.1465A>G p.Asn489Asp Missense 14/24 - 7
15-28228538-C-A c.1456G>T p.Asp486Tyr Missense 14/24 - 2
15-28228540-C-A c.1454G>T p.Gly485Val Missense 14/24 - 1
15-28228541-C-T c.1453G>A p.Gly485Arg Missense 14/24 - 1
15-28228553-C-T c.1441G>A p.Ala481Thr Missense 14/24 - 19
15-28228568-T-C c.1426A>G p.Asn476Asp Missense 14/24 - 3
15-28228571-T-G c.1423A>C p.Thr475Pro Missense 14/24 - 1
15-28228576-A-C c.1418T>G p.Ile473Ser Missense 14/24 - 1
15-28228601-T-C c.1393A>G p.Arg465Gly Missense 14/24 - 1
15-28228620-C-T c.1374G>A p.Glu458Glu Synonymous 14/24 - 1
15-28228622-C-T c.1372G>A p.Glu458Lys Missense 14/24 - 1
15-28228644-G-A c.1365-15C>T - IntronicSNV - 13/23 4
15-28229255-G-A c.1365-626C>T - IntronicSNV - 13/23 1
15-28229255-G-T c.1365-626C>A - IntronicSNV - 13/23 1
15-28230097-C-T c.1364+113G>A - IntronicSNV - 13/23 4
15-28230184-T-C c.1364+26A>G - IntronicSNV - 13/23 4
15-28230211-T-C c.1363A>G p.Arg455Gly Missense 13/24 - 1
15-28230225-G-A c.1349C>T p.Thr450Met Missense 13/24 - 2
15-28230232-G-A c.1342C>T p.Leu448Phe Missense 13/24 - 1
15-28230238-T-C c.1336A>G p.Met446Val Missense 13/24 - 1
15-28230247-C-T c.1327G>A p.Val443Ile Missense 13/24 - 22
15-28230252-T-C c.1322A>G p.Asp441Gly Missense 13/24 - 1
15-28230254-C-G c.1320G>C p.Leu440Phe Missense 13/24 - 4
15-28230283-G-T c.1291C>A p.Leu431Ile Missense 13/24 - 1
15-28230312-C-G c.1262G>C p.Arg421Pro Missense 13/24 - 1
15-28230313-G-A c.1261C>T p.Arg421Trp Missense 13/24 - 1
15-28230318-C-T c.1256G>A p.Arg419Gln Missense 13/24 - 63
15-28230319-G-A c.1255C>T p.Arg419Trp Missense 13/24 - 2
15-28230335-C-G c.1240-1G>C - IntronicSNV - 12/23 1
15-28231357-G-T c.1239+376C>A - IntronicSNV - 12/23 1
15-28231755-A-G c.1217T>C p.Phe406Ser Missense 12/24 - 1
15-28231761-G-A c.1211C>T p.Thr404Met Missense 12/24 - 2
15-28231793-T-C c.1183-4A>G - IntronicSNV - 11/23 3
15-28234410-G-T c.1182+337C>A - IntronicSNV - 11/23 1
15-28234746-C-T c.1182+1G>A - IntronicSNV - 11/23 1
15-28234747-C-A c.1182G>T p.Met394Ile Missense 11/24 - 1
15-28234747-C-G c.1182G>C p.Met394Ile Missense 11/24 - 1
15-28234747-C-T c.1182G>A p.Met394Ile Missense 11/24 - 1
15-28234769-G-A c.1160C>T p.Thr387Met Missense 11/24 - 1
15-28234791-C-T c.1138G>A p.Val380Met Missense 11/24 - 1
15-28234792-CAC-ATC c.1136_1137delinsAT p.Val379Asp Missense 11/24 - 1
15-28234801-C-A c.1128G>T p.Leu376Leu Synonymous 11/24 - 1
15-28234812-T-A c.1117A>T p.Arg373* Nonsense 11/24 - 1
15-28235717-C-A c.1116+5G>T - IntronicSNV - 10/23 1
15-28235725-G-A c.1113C>T p.Gly371Gly Synonymous 10/24 - 3
15-28235725-G-C c.1113C>G p.Gly371Gly Synonymous 10/24 - 1
15-28235725-G-T c.1113C>A p.Gly371Gly Synonymous 10/24 - 1
15-28235735-G-A c.1103C>T p.Ala368Val Missense 10/24 - 1
15-28235759-G-A c.1079C>T p.Ser360Phe Missense 10/24 - 1
15-28235763-C-G c.1075G>C p.Gly359Arg Missense 10/24 - 1
15-28235773-C-A c.1065G>T p.Ala355Ala Synonymous 10/24 - 2
15-28235773-C-G c.1065G>C p.Ala355Ala Synonymous 10/24 - 2
15-28235773-C-T c.1065G>A p.Ala355Ala Synonymous 10/24 - 28
15-28235774-G-A c.1064C>T p.Ala355Val Missense 10/24 - 1
15-28235782-T-G c.1056A>C p.Arg352Ser Missense 10/24 - 1
15-28235808-A-C c.1045-15T>G - IntronicSNV - 9/23 1
15-28238158-G-A c.1045-2365C>T - IntronicSNV - 9/23 1
15-28238158-G-T c.1045-2365C>A - IntronicSNV - 9/23 1
15-28238895-A-G c.1045-3102T>C - IntronicSNV - 9/23 1
15-28238895-A-T c.1045-3102T>A - IntronicSNV - 9/23 1
15-28239301-A-G c.1045-3508T>C - IntronicSNV - 9/23 2
15-28250156-T-C c.1044+9766A>G - IntronicSNV - 9/23 1
15-28250156-T-G c.1044+9766A>C - IntronicSNV - 9/23 1
15-28259863-A-G c.1044+59T>C - IntronicSNV - 9/23 1
15-28259940-G-A c.1026C>T p.Tyr342Tyr Synonymous 9/24 - 1
15-28259941-T-C c.1025A>G p.Tyr342Cys Missense 9/24 - 3
15-28259956-A-AA c.1010dup p.Leu338Profs*11 Frameshift 9/24 - 1
15-28259958-G-A c.1008C>T p.Ala336Ala Synonymous 9/24 - 1
15-28259958-G-C c.1008C>G p.Ala336Ala Synonymous 9/24 - 1
15-28259958-G-T c.1008C>A p.Ala336Ala Synonymous 9/24 - 1
15-28259965-G-A c.1001C>T p.Ala334Val Missense 9/24 - 2
15-28259979-G-T c.987C>A p.Thr329Thr Synonymous 9/24 - 1
15-28260003-C-T c.963G>A p.Gln321Gln Synonymous 9/24 - 1
15-28260012-C-T c.954G>A p.Met318Ile Missense 9/24 - 1
15-28260044-G-A c.922C>T p.Leu308Leu Synonymous 9/24 - 2
15-28260053-G-A c.913C>T p.Arg305Trp Missense 9/24 - 26
15-28261272-T-C c.868A>G p.Arg290Gly Missense 8/24 - 2
15-28261291-G-T c.849C>A p.Ser283Arg Missense 8/24 - 1
15-28261307-A-C c.833T>G p.Leu278* Nonsense 8/24 - 1
15-28261318-C-G c.822G>C p.Trp274Cys Missense 8/24 - 1
15-28261335-G-C c.808-3C>G - IntronicSNV - 7/23 2
15-28262865-GC-G c.807+678del - IntronicDeletion - 7/23 1
15-28263548-G-A c.802C>T p.Gln268* Nonsense 7/24 - 1
15-28263554-G-A c.796C>T p.Arg266Trp Missense 7/24 - 2
15-28263580-G-T c.770C>A p.Ala257Asp Missense 7/24 - 2
15-28263628-G-A c.722C>T p.Pro241Leu Missense 7/24 - 1
15-28263628-G-C c.722C>G p.Pro241Arg Missense 7/24 - 2
15-28264854-A-G c.647-1151T>C - IntronicSNV - 6/23 1
15-28266235-T-C c.646+1412A>G - IntronicSNV - 6/23 3
15-28267644-T-C c.646+3A>G - IntronicSNV - 6/23 1
15-28267661-G-A c.632C>T p.Pro211Leu Missense 6/24 - 4
15-28267700-G-A c.593C>T p.Pro198Leu Missense 6/24 - 2
15-28267738-T-C c.574-19A>G - IntronicSNV - 5/23 1
15-28268990-C-A c.573+1001G>T - IntronicSNV - 5/23 2
15-28271775-G-A c.515+1242C>T - IntronicSNV - 4/23 1
15-28271775-G-C c.515+1242C>G - IntronicSNV - 4/23 1
15-28272065-C-A c.515+952G>T - IntronicSNV - 4/23 3
15-28272065-C-T c.515+952G>A - IntronicSNV - 4/23 3
15-28273126-G-A c.406C>T p.Arg136* Nonsense 4/24 - 1
15-28273205-C-T c.327G>A p.Gly109Gly Synonymous 4/24 - 1
15-28273350-T-C c.327-145A>G - IntronicSNV - 3/23 2
15-28277242-G-A c.295C>T p.Pro99Ser Missense 3/24 - 1
15-28277242-G-C c.295C>G p.Pro99Ala Missense 3/24 - 1
15-28277249-T-A c.288A>T p.Glu96Asp Missense 3/24 - 1
15-28277249-T-G c.288A>C p.Glu96Asp Missense 3/24 - 1
15-28277290-G-A c.247C>T p.Gln83* Nonsense 3/24 - 1
15-28277299-A-G c.238T>C p.Ser80Pro Missense 3/24 - 1
15-28277307-G-GCCT c.229_230insAGG p.Ser77delins* SpliceAcceptorInsertion 3/24 - 1
15-28277308-A-T c.229T>A p.Ser77Thr Missense 3/24 - 1
15-28278606-C-G c.228-1297G>C - IntronicSNV - 2/23 1
15-28281765-C-T c.228-4456G>A - IntronicSNV - 2/23 2
15-28282741-G-T c.228-5432C>A - IntronicSNV - 2/23 5
15-28283441-A-G c.228-6132T>C - IntronicSNV - 2/23 5
15-28283507-G-A c.228-6198C>T - IntronicSNV - 2/23 2
15-28283689-C-T c.228-6380G>A - IntronicSNV - 2/23 1
15-28285967-G-T c.228-8658C>A - IntronicSNV - 2/23 1
15-28286117-C-G c.228-8808G>C - IntronicSNV - 2/23 1
15-28286793-C-A c.228-9484G>T - IntronicSNV - 2/23 1
15-28288121-G-T c.228-10812C>A - IntronicSNV - 2/23 3
15-28288549-G-A c.228-11240C>T - IntronicSNV - 2/23 1
15-28288748-A-G c.228-11439T>C - IntronicSNV - 2/23 4
15-28290973-A-G c.228-13664T>C - IntronicSNV - 2/23 1
15-28291812-C-A c.228-14503G>T - IntronicSNV - 2/23 3
15-28291812-C-T c.228-14503G>A - IntronicSNV - 2/23 3
15-28292178-T-C c.228-14869A>G - IntronicSNV - 2/23 2
15-28294922-G-A c.228-17613C>T - IntronicSNV - 2/23 4
15-28294922-G-T c.228-17613C>A - IntronicSNV - 2/23 4
15-28298033-G-A c.228-20724C>T - IntronicSNV - 2/23 1
15-28298033-G-C c.228-20724C>G - IntronicSNV - 2/23 1
15-28304987-T-C c.227+21807A>G - IntronicSNV - 2/23 1
15-28307179-T-C c.227+19615A>G - IntronicSNV - 2/23 1
15-28310974-A-G c.227+15820T>C - IntronicSNV - 2/23 1
15-28314426-A-G c.227+12368T>C - IntronicSNV - 2/23 1
15-28320661-T-A c.227+6133A>T - IntronicSNV - 2/23 1
15-28323770-A-G c.227+3024T>C - IntronicSNV - 2/23 4
15-28326843-A-C c.178T>G p.Ser60Ala Missense 2/24 - 1
15-28326863-CC-C c.163del p.Ala55Leufs*47 Frameshift 2/24 - 1
15-28326864-CT-C c.157del p.Arg53Glyfs*49 Frameshift 2/24 - 1
15-28326882-G-C c.139C>G p.Pro47Ala Missense 2/24 - 1
15-28326891-C-T c.130G>A p.Gly44Arg Missense 2/24 - 1
15-28326942-C-T c.79G>A p.Gly27Arg Missense 2/24 - 3
15-28326958-C-A c.63G>T p.Gln21His Missense 2/24 - 1
15-28326958-C-G c.63G>C p.Gln21His Missense 2/24 - 1
15-28326960-G-A c.61C>T p.Gln21* Nonsense 2/24 - 1
15-28327835-C-A c.-21-794G>T - IntronicSNV - 1/23 5
15-28327835-C-G c.-21-794G>C - IntronicSNV - 1/23 5
15-28328765-G-A c.-21-1724C>T - IntronicSNV - 1/23 5
15-28335820-A-G c.-22+8550T>C - intron_variant - 1/23 16
15-28335820-A-T c.-22+8550T>A - intron_variant - 1/23 16
15-28337209-A-G c.-22+7161T>C - intron_variant - 1/23 1
15-28338713-A-C c.-22+5657T>G - intron_variant - 1/23 9
15-28341609-C-A c.-22+2761G>T - intron_variant - 1/23 2
15-28344238-A-G c.-22+132T>C - intron_variant - 1/23 32
15-28344328-C-G c.-22+42G>C - intron_variant - 1/23 1
15-28344328-C-T c.-22+42G>A - intron_variant - 1/23 1