SLC22A1 solute carrier family 22 member 1

Canonical transcript: NM_003057

225 unique variant annotations were identified in 371 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
6-160542864-T-C c.-104T>C - 5-UTRSNV 1/11 - 1
6-160542976-C-A c.9C>A p.Thr3Thr Synonymous 1/11 - 1
6-160542976-C-G c.9C>G p.Thr3Thr Synonymous 1/11 - 1
6-160542976-C-T c.9C>T p.Thr3Thr Synonymous 1/11 - 1
6-160543008-C-G c.41C>G p.Ser14Cys Missense 1/11 - 5
6-160543008-C-T c.41C>T p.Ser14Phe Missense 1/11 - 19
6-160543034-C-G c.67C>G p.Leu23Val Missense 1/11 - 1
6-160543053-C-A c.86C>A p.Ser29* Nonsense 1/11 - 1
6-160543053-C-T c.86C>T p.Ser29Leu Missense 1/11 - 4
6-160543065-C-T c.98C>T p.Ala33Val Missense 1/11 - 1
6-160543080-G-A c.113G>A p.Gly38Asp Missense 1/11 - 2
6-160543090-C-G c.123C>G p.Phe41Leu Missense 1/11 - 2
6-160543090-C-T c.123C>T p.Phe41Phe Synonymous 1/11 - 2
6-160543100-AC-GG c.133_134delinsGG p.Thr45Gly Missense 1/11 - 2
6-160543109-C-T c.142C>T p.His48Tyr Missense 1/11 - 1
6-160543113-A-G c.146A>G p.His49Arg Missense 1/11 - 1
6-160543123-T-C c.156T>C p.Ser52Ser Synonymous 1/11 - 20
6-160543148-C-A c.181C>A p.Arg61Ser Missense 1/11 - 6
6-160543148-C-T c.181C>T p.Arg61Cys Missense 1/11 - 111
6-160543206-C-A c.239C>A p.Ala80Glu Missense 1/11 - 1
6-160543206-C-T c.239C>T p.Ala80Val Missense 1/11 - 1
6-160543220-C-G c.253C>G p.Leu85Val Missense 1/11 - 2
6-160543220-C-T c.253C>T p.Leu85Phe Missense 1/11 - 3
6-160543229-GT-G c.262del p.Cys88Alafs*16 Frameshift 1/11 - 1
6-160543229-T-A c.262T>A p.Cys88Ser Missense 1/11 - 15
6-160543229-T-C c.262T>C p.Cys88Arg Missense 1/11 - 34
6-160543229-TG-GC c.262_263delinsGC p.Cys88Ala Missense 1/11 - 6
6-160543236-G-A c.269G>A p.Arg90His Missense 1/11 - 2
6-160543250-T-C c.283T>C p.Trp95Arg Missense 1/11 - 1
6-160543252-G-C c.285G>C p.Trp95Cys Missense 1/11 - 1
6-160543252-G-T c.285G>T p.Trp95Cys Missense 1/11 - 1
6-160543256-C-A c.289C>A p.Gln97Lys Missense 1/11 - 6
6-160543256-C-G c.289C>G p.Gln97Glu Missense 1/11 - 1
6-160543262-G-A c.295G>A p.Ala99Thr Missense 1/11 - 1
6-160543310-C-T c.343C>T p.His115Tyr Missense 1/11 - 1
6-160543316-C-T c.349C>T p.Pro117Ser Missense 1/11 - 1
6-160543317-C-G c.350C>G p.Pro117Arg Missense 1/11 - 3
6-160543317-C-T c.350C>T p.Pro117Leu Missense 1/11 - 10
6-160543329-G-GG c.362dup p.Cys121Trpfs*8 Frameshift 1/11 - 1
6-160543562-G-A c.411+184G>A - IntronicSNV - 1/10 11
6-160543580-C-A c.411+202C>A - IntronicSNV - 1/10 1
6-160543580-C-G c.411+202C>G - IntronicSNV - 1/10 1
6-160543610-C-G c.411+232C>G - IntronicSNV - 1/10 5
6-160543610-C-T c.411+232C>T - IntronicSNV - 1/10 5
6-160543934-G-A c.411+556G>A - IntronicSNV - 1/10 1
6-160544961-G-C c.411+1583G>C - IntronicSNV - 1/10 1
6-160545046-C-T c.411+1668C>T - IntronicSNV - 1/10 1
6-160545394-G-T c.411+2016G>T - IntronicSNV - 1/10 1
6-160546267-T-A c.411+2889T>A - IntronicSNV - 1/10 1
6-160549822-G-A c.412-1314G>A - IntronicSNV - 1/10 1
6-160550929-T-C c.412-207T>C - IntronicSNV - 1/10 2
6-160551092-G-A c.412-44G>A - IntronicSNV - 1/10 1
6-160551093-T-G c.412-43T>G - IntronicSNV - 1/10 9
6-160551101-T-C c.412-35T>C - IntronicSNV - 1/10 1
6-160551188-T-G c.464T>G p.Leu155Trp Missense 2/11 - 1
6-160551203-T-G c.479T>G p.Leu160Trp Missense 2/11 - 1
6-160551204-G-A c.480G>A p.Leu160Leu Synonymous 2/11 - 39
6-160551204-G-C c.480G>C p.Leu160Phe Missense 2/11 - 52
6-160551204-G-T c.480G>T p.Leu160Phe Missense 2/11 - 48
6-160551205-T-C c.481T>C p.Phe161Leu Missense 2/11 - 1
6-160551207-T-A c.483T>A p.Phe161Leu Missense 2/11 - 1
6-160551207-T-G c.483T>G p.Phe161Leu Missense 2/11 - 1
6-160551217-G-A c.493G>A p.Gly165Ser Missense 2/11 - 1
6-160551217-G-T c.493G>T p.Gly165Cys Missense 2/11 - 1
6-160551336-G-A c.515+97G>A - IntronicSNV - 2/10 2
6-160551486-C-A c.515+247C>A - IntronicSNV - 2/10 1
6-160551486-C-T c.515+247C>T - IntronicSNV - 2/10 1
6-160552036-C-G c.515+797C>G - IntronicSNV - 2/10 1
6-160552036-C-T c.515+797C>T - IntronicSNV - 2/10 1
6-160552254-T-C c.516-1010T>C - IntronicSNV - 2/10 1
6-160552254-T-G c.516-1010T>G - IntronicSNV - 2/10 1
6-160552577-G-T c.516-687G>T - IntronicSNV - 2/10 1
6-160552803-C-T c.516-461C>T - IntronicSNV - 2/10 2
6-160552978-G-A c.516-286G>A - IntronicSNV - 2/10 1
6-160553007-C-T c.516-257C>T - IntronicSNV - 2/10 2
6-160553008-G-A c.516-256G>A - IntronicSNV - 2/10 1
6-160553066-C-T c.516-198C>T - IntronicSNV - 2/10 1
6-160553165-C-T c.516-99C>T - IntronicSNV - 2/10 3
6-160553176-G-A c.516-88G>A - IntronicSNV - 2/10 1
6-160553176-G-T c.516-88G>T - IntronicSNV - 2/10 1
6-160553238-C-T c.516-26C>T - IntronicSNV - 2/10 2
6-160553268-G-A c.520G>A p.Gly174Ser Missense 3/11 - 3
6-160553306-C-T c.558C>T p.Asn186Asn Synonymous 3/11 - 2
6-160553308-C-T c.560C>T p.Ala187Val Missense 3/11 - 1
6-160553314-C-T c.566C>T p.Ser189Leu Missense 3/11 - 17
6-160553337-C-T c.589C>T p.Pro197Ser Missense 3/11 - 1
6-160553350-C-T c.602C>T p.Ser201Phe Missense 3/11 - 1
6-160553364-CGC-AAG c.616_618delinsAAG p.Arg206Lys Missense 3/11 - 1
6-160553364-CGC-GAG c.616_618delinsGAG p.Arg206Glu Missense 3/11 - 1
6-160553364-C-T c.616C>T p.Arg206Cys Missense 3/11 - 7
6-160553372-G-A c.624G>A p.Leu208Leu Synonymous 3/11 - 1
6-160553372-G-T c.624G>T p.Leu208Leu Synonymous 3/11 - 1
6-160553407-G-C c.659G>C p.Gly220Ala Missense 3/11 - 11
6-160553407-G-T c.659G>T p.Gly220Val Missense 3/11 - 21
6-160554067-C-CA c.670+649_670+650insA - IntronicInsertion - 3/10 1
6-160554662-C-T c.671-327C>T - IntronicSNV - 3/10 2
6-160555051-ACG-TGT c.733_735delinsTGT p.Thr245Cys Missense 4/11 - 1
6-160555052-C-T c.734C>T p.Thr245Met Missense 4/11 - 2
6-160555754-G-A c.839+597G>A - IntronicSNV - 4/10 12
6-160556022-G-T c.839+865G>T - IntronicSNV - 4/10 2
6-160556043-C-G c.839+886C>G - IntronicSNV - 4/10 2
6-160556147-C-T c.839+990C>T - IntronicSNV - 4/10 1
6-160556185-A-G c.839+1028A>G - IntronicSNV - 4/10 1
6-160556185-A-T c.839+1028A>T - IntronicSNV - 4/10 1
6-160556197-T-C c.839+1040T>C - IntronicSNV - 4/10 1
6-160556197-T-G c.839+1040T>G - IntronicSNV - 4/10 1
6-160556319-G-A c.840-933G>A - IntronicSNV - 4/10 1
6-160556642-C-T c.840-610C>T - IntronicSNV - 4/10 5
6-160557154-G-A c.840-98G>A - IntronicSNV - 4/10 2
6-160557154-G-C c.840-98G>C - IntronicSNV - 4/10 2
6-160557158-G-A c.840-94G>A - IntronicSNV - 4/10 1
6-160557256-G-A c.844G>A p.Val282Met Missense 5/11 - 1
6-160557260-C-T c.848C>T p.Pro283Leu Missense 5/11 - 16
6-160557262-G-A c.850G>A p.Glu284Lys Missense 5/11 - 2
6-160557271-C-G c.859C>G p.Arg287Gly Missense 5/11 - 14
6-160557271-C-T c.859C>T p.Arg287Trp Missense 5/11 - 11
6-160557328-G-A c.916G>A p.Ala306Thr Missense 5/11 - 1
6-160557329-C-T c.917C>T p.Ala306Val Missense 5/11 - 2
6-160557408-G-C c.954+42G>C - IntronicSNV - 5/10 1
6-160557408-G-T c.954+42G>T - IntronicSNV - 5/10 1
6-160557515-G-A c.955-61G>A - IntronicSNV - 5/10 2
6-160557569-C-T c.955-7C>T - IntronicSNV - 5/10 2
6-160557643-C-G c.1022C>G p.Pro341Arg Missense 6/11 - 27
6-160557643-C-T c.1022C>T p.Pro341Leu Missense 6/11 - 55
6-160557646-G-A c.1025G>A p.Arg342His Missense 6/11 - 7
6-160557704-C-T c.1061+22C>T - IntronicSNV - 6/10 1
6-160557724-C-T c.1061+42C>T - IntronicSNV - 6/10 1
6-160558527-C-T c.1061+845C>T - IntronicSNV - 6/10 1
6-160558688-G-A c.1061+1006G>A - IntronicSNV - 6/10 1
6-160559005-G-A c.1061+1323G>A - IntronicSNV - 6/10 1
6-160559234-T-G c.1062-1451T>G - IntronicSNV - 6/10 2
6-160559239-G-A c.1062-1446G>A - IntronicSNV - 6/10 1
6-160559442-G-A c.1062-1243G>A - IntronicSNV - 6/10 2
6-160559807-C-A c.1062-878C>A - IntronicSNV - 6/10 7
6-160560769-C-T c.1146C>T p.Ser382Ser Synonymous 7/11 - 1
6-160560824-G-A c.1201G>A p.Gly401Ser Missense 7/11 - 72
6-160560830-A-G c.1207A>G p.Ile403Val Missense 7/11 - 1
6-160560830-A-T c.1207A>T p.Ile403Phe Missense 7/11 - 1
6-160560845-A-C c.1222A>C p.Met408Leu Missense 7/11 - 46
6-160560845-A-G c.1222A>G p.Met408Val Missense 7/11 - 81
6-160560848-T-C c.1225T>C p.Ser409Pro Missense 7/11 - 1
6-160560861-C-T c.1238C>T p.Ala413Val Missense 7/11 - 1
6-160560862-G-A c.1239G>A p.Ala413Ala Synonymous 7/11 - 2
6-160560862-G-C c.1239G>C p.Ala413Ala Synonymous 7/11 - 2
6-160560864-G-A c.1241G>A p.Gly414Glu Missense 7/11 - 1
6-160560864-G-C c.1241G>C p.Gly414Ala Missense 7/11 - 2
6-160560878-G-A c.1255G>A p.Val419Ile Missense 7/11 - 1
6-160560881-A-G c.1258A>G p.Met420Val Missense 7/11 - 3
6-160560881-A-T c.1258A>T p.Met420Leu Missense 7/11 - 2
6-160560883-TGAT-T c.1260_1262del p.Met420del InFrameDeletion 7/11 - 37
6-160560884-A-T c.1261A>T p.Ile421Phe Missense 7/11 - 1
6-160560933-C-T c.1276+34C>T - IntronicSNV - 7/10 7
6-160561749-C-T c.1276+850C>T - IntronicSNV - 7/10 1
6-160562481-G-A c.1276+1582G>A - IntronicSNV - 7/10 1
6-160562512-G-A c.1276+1613G>A - IntronicSNV - 7/10 1
6-160562523-A-T c.1276+1624A>T - IntronicSNV - 7/10 1
6-160563205-C-T c.1277-1368C>T - IntronicSNV - 7/10 2
6-160563520-C-T c.1277-1053C>T - IntronicSNV - 7/10 1
6-160564476-C-G c.1277-97C>G - IntronicSNV - 7/10 14
6-160564522-G-A c.1277-51G>A - IntronicSNV - 7/10 1
6-160564585-T-C c.1289T>C p.Leu430Ser Missense 8/11 - 1
6-160564603-G-T c.1307G>T p.Cys436Phe Missense 8/11 - 1
6-160564616-G-A c.1320G>A p.Met440Ile Missense 8/11 - 5
6-160564642-T-C c.1346T>C p.Ile449Thr Missense 8/11 - 2
6-160564677-G-A c.1381G>A p.Val461Ile Missense 8/11 - 3
6-160564677-G-C c.1381G>C p.Val461Leu Missense 8/11 - 1
6-160566003-G-T c.1385+1322G>T - IntronicSNV - 8/10 1
6-160567379-A-G c.1385+2698A>G - IntronicSNV - 8/10 1
6-160567928-G-A c.1385+3247G>A - IntronicSNV - 8/10 3
6-160567928-G-T c.1385+3247G>T - IntronicSNV - 8/10 3
6-160568896-T-C c.1385+4215T>C - IntronicSNV - 8/10 2
6-160568997-G-A c.1385+4316G>A - IntronicSNV - 8/10 5
6-160569068-C-T c.1385+4387C>T - IntronicSNV - 8/10 1
6-160569782-T-C c.1385+5101T>C - IntronicSNV - 8/10 2
6-160569782-T-G c.1385+5101T>G - IntronicSNV - 8/10 2
6-160570114-G-A c.1385+5433G>A - IntronicSNV - 8/10 2
6-160570172-A-G c.1385+5491A>G - IntronicSNV - 8/10 1
6-160570624-C-T c.1386-5206C>T - IntronicSNV - 8/10 3
6-160571499-A-G c.1386-4331A>G - IntronicSNV - 8/10 1
6-160572054-T-C c.1386-3776T>C - IntronicSNV - 8/10 1
6-160572279-C-A c.1386-3551C>A - IntronicSNV - 8/10 3
6-160572279-C-T c.1386-3551C>T - IntronicSNV - 8/10 3
6-160572557-T-A c.1386-3273T>A - IntronicSNV - 8/10 1
6-160572866-C-A c.1386-2964C>A - IntronicSNV - 8/10 58
6-160573292-A-C c.1386-2538A>C - IntronicSNV - 8/10 1
6-160573407-C-T c.1386-2423C>T - IntronicSNV - 8/10 1
6-160574027-C-T c.1386-1803C>T - IntronicSNV - 8/10 1
6-160574037-C-T c.1386-1793C>T - IntronicSNV - 8/10 1
6-160574535-C-A c.1386-1295C>A - IntronicSNV - 8/10 3
6-160574802-A-G c.1386-1028A>G - IntronicSNV - 8/10 2
6-160575146-C-A c.1386-684C>A - IntronicSNV - 8/10 1
6-160575146-C-T c.1386-684C>T - IntronicSNV - 8/10 1
6-160575366-G-A c.1386-464G>A - IntronicSNV - 8/10 4
6-160575715-T-C c.1386-115T>C - IntronicSNV - 8/10 1
6-160575751-A-G c.1386-79A>G - IntronicSNV - 8/10 1
6-160575837-G-A c.1393G>A p.Gly465Arg Missense 9/11 - 78
6-160575837-G-C c.1393G>C p.Gly465Arg Missense 9/11 - 79
6-160575864-GA-TG c.1420_1421delinsTG p.Asp474Cys Missense 9/11 - 1
6-160575907-G-C c.1463G>C p.Arg488Thr Missense 9/11 - 5
6-160575907-G-T c.1463G>T p.Arg488Met Missense 9/11 - 9
6-160575957-A-C c.1498+15A>C - IntronicSNV - 9/10 1
6-160575979-G-T c.1498+37G>T - IntronicSNV - 9/10 1
6-160575985-C-T c.1498+43C>T - IntronicSNV - 9/10 16
6-160576969-G-A c.1499-38G>A - IntronicSNV - 9/10 1
6-160577010-T-A c.1502T>A p.Val501Glu Missense 10/11 - 1
6-160577011-G-A c.1503G>A p.Val501Val Synonymous 10/11 - 3
6-160577011-G-C c.1503G>C p.Val501Val Synonymous 10/11 - 1
6-160577011-G-T c.1503G>T p.Val501Val Synonymous 10/11 - 1
6-160577015-G-A c.1507G>A p.Gly503Ser Missense 10/11 - 1
6-160577063-G-A c.1555G>A p.Val519Ile Missense 10/11 - 4
6-160577063-G-T c.1555G>T p.Val519Phe Missense 10/11 - 6
6-160577063-GT-CC c.1555_1556delinsCC p.Val519Pro Missense 10/11 - 1
6-160577091-C-G c.1583C>G p.Ala528Gly Missense 10/11 - 1
6-160577200-A-T c.1598+94A>T - IntronicSNV - 10/10 1
6-160577461-C-A c.1598+355C>A - IntronicSNV - 10/10 1
6-160577461-C-T c.1598+355C>T - IntronicSNV - 10/10 1
6-160577499-G-A c.1598+393G>A - IntronicSNV - 10/10 2
6-160577499-G-C c.1598+393G>C - IntronicSNV - 10/10 2
6-160578271-G-T c.1598+1165G>T - IntronicSNV - 10/10 3
6-160578860-T-C c.1599-688T>C - IntronicSNV - 10/10 89
6-160578914-C-T c.1599-634C>T - IntronicSNV - 10/10 3
6-160579527-C-T c.1599-21C>T - IntronicSNV - 10/10 8
6-160579573-A-G c.1624A>G p.Ile542Val Missense 11/11 - 1
6-160579596-A-C c.1647A>C p.Ser549Ser Synonymous 11/11 - 1
6-160579629-G-A c.*15G>A - 3-UTRSNV 11/11 - 1