| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186287800G>A | CA199064 | F11,F11-AS1 | c.1693G>A (p.Glu565Lys) c.293G>A c.1531G>A (p.Glu511Lys) n.212G>A n.1066+628C>T c.1696G>A (p.Glu566Lys) c.1600G>A (p.Glu534Lys) c.1426G>A (p.Glu476Lys) c.1648G>A (p.Glu550Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186287800G>C | CA358945704 | F11,F11-AS1 | c.1693G>C (p.Glu565Gln) c.293G>C c.1531G>C (p.Glu511Gln) n.212G>C n.1066+628C>G c.1696G>C (p.Glu566Gln) c.1600G>C (p.Glu534Gln) c.1426G>C (p.Glu476Gln) c.1648G>C (p.Glu550Gln) | |
| 4 | g.186287800G= | CA1519939444 | F11,F11-AS1 | c.1693G= (p.Glu565=) c.293G= c.1531G= (p.Glu511=) n.212G= n.1066+628C= c.1696G= (p.Glu566=) c.1600G= (p.Glu534=) c.1426G= (p.Glu476=) c.1648G= (p.Glu550=) | |
| 4 | g.186287800G>T | CA358945705 | F11,F11-AS1 | c.1693G>T (p.Glu565Ter) c.293G>T c.1531G>T (p.Glu511Ter) n.212G>T n.1066+628C>A c.1696G>T (p.Glu566Ter) c.1600G>T (p.Glu534Ter) c.1426G>T (p.Glu476Ter) c.1648G>T (p.Glu550Ter) | |
| 4 | g.186287801A>C | CA358945706 | F11,F11-AS1 | c.1694A>C (p.Glu565Ala) c.294A>C c.1532A>C (p.Glu511Ala) n.213A>C n.1066+627T>G c.1697A>C (p.Glu566Ala) c.1601A>C (p.Glu534Ala) c.1427A>C (p.Glu476Ala) c.1649A>C (p.Glu550Ala) | |
| 4 | g.186287801A>G | CA358945707 | F11,F11-AS1 | c.1694A>G (p.Glu565Gly) c.294A>G c.1532A>G (p.Glu511Gly) n.213A>G n.1066+627T>C c.1697A>G (p.Glu566Gly) c.1601A>G (p.Glu534Gly) c.1427A>G (p.Glu476Gly) c.1649A>G (p.Glu550Gly) | |
| 4 | g.186287801A>T | CA358945708 | F11,F11-AS1 | c.1694A>T (p.Glu565Val) c.294A>T c.1532A>T (p.Glu511Val) n.213A>T n.1066+627T>A c.1697A>T (p.Glu566Val) c.1601A>T (p.Glu534Val) c.1427A>T (p.Glu476Val) c.1649A>T (p.Glu550Val) | |
| 4 | g.186287802A>C | CA358945709 | F11,F11-AS1 | c.1695A>C (p.Glu565Asp) c.295A>C c.1533A>C (p.Glu511Asp) n.214A>C n.1066+626T>G c.1698A>C (p.Glu566Asp) c.1602A>C (p.Glu534Asp) c.1428A>C (p.Glu476Asp) c.1650A>C (p.Glu550Asp) | |
| 4 | g.186287802A>G | CA442641172 | F11,F11-AS1 | c.1695A>G (p.Glu565=) c.295A>G c.1533A>G (p.Glu511=) n.214A>G n.1066+626T>C c.1698A>G (p.Glu566=) c.1602A>G (p.Glu534=) c.1428A>G (p.Glu476=) c.1650A>G (p.Glu550=) | |
| 4 | g.186287802A>T | CA358945710 | F11,F11-AS1 | c.1695A>T (p.Glu565Asp) c.295A>T c.1533A>T (p.Glu511Asp) n.214A>T n.1066+626T>A c.1698A>T (p.Glu566Asp) c.1602A>T (p.Glu534Asp) c.1428A>T (p.Glu476Asp) c.1650A>T (p.Glu550Asp) | |
| 4 | g.186287803G>A | CA358945711 | F11,F11-AS1 | c.1696G>A (p.Gly566Arg) c.296G>A c.1534G>A (p.Gly512Arg) n.215G>A n.1066+625C>T c.1699G>A (p.Gly567Arg) c.1603G>A (p.Gly535Arg) c.1429G>A (p.Gly477Arg) c.1651G>A (p.Gly551Arg) | |
| 4 | g.186287803G>C | CA358945712 | F11,F11-AS1 | c.1696G>C (p.Gly566Arg) c.296G>C c.1534G>C (p.Gly512Arg) n.215G>C n.1066+625C>G c.1699G>C (p.Gly567Arg) c.1603G>C (p.Gly535Arg) c.1429G>C (p.Gly477Arg) c.1651G>C (p.Gly551Arg) | |
| 4 | g.186287803G>T | CA358945713 | F11,F11-AS1 | c.1696G>T (p.Gly566Ter) c.296G>T c.1534G>T (p.Gly512Ter) n.215G>T n.1066+625C>A c.1699G>T (p.Gly567Ter) c.1603G>T (p.Gly535Ter) c.1429G>T (p.Gly477Ter) c.1651G>T (p.Gly551Ter) | |
| 4 | g.186287804G>A | CA3164074 | F11,F11-AS1 | c.1697G>A (p.Gly566Glu) c.297G>A c.1535G>A (p.Gly512Glu) n.216G>A n.1066+624C>T c.1700G>A (p.Gly567Glu) c.1604G>A (p.Gly535Glu) c.1430G>A (p.Gly477Glu) c.1652G>A (p.Gly551Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186287804G>C | CA358945715 | F11,F11-AS1 | c.1697G>C (p.Gly566Ala) c.297G>C c.1535G>C (p.Gly512Ala) n.216G>C n.1066+624C>G c.1700G>C (p.Gly567Ala) c.1604G>C (p.Gly535Ala) c.1430G>C (p.Gly477Ala) c.1652G>C (p.Gly551Ala) | |
| 4 | g.186287804G= | CA1519939445 | F11,F11-AS1 | c.1697G= (p.Gly566=) c.297G= c.1535G= (p.Gly512=) n.216G= n.1066+624C= c.1700G= (p.Gly567=) c.1604G= (p.Gly535=) c.1430G= (p.Gly477=) c.1652G= (p.Gly551=) | |
| 4 | g.186287804G>T | CA358945714 | F11,F11-AS1 | c.1697G>T (p.Gly566Val) c.297G>T c.1535G>T (p.Gly512Val) n.216G>T n.1066+624C>A c.1700G>T (p.Gly567Val) c.1604G>T (p.Gly535Val) c.1430G>T (p.Gly477Val) c.1652G>T (p.Gly551Val) | |
| 4 | g.186287805A= | CA1519939446 | F11,F11-AS1 | c.1698A= (p.Gly566=) c.298A= c.1536A= (p.Gly512=) n.217A= n.1066+623T= c.1701A= (p.Gly567=) c.1605A= (p.Gly535=) c.1431A= (p.Gly477=) c.1653A= (p.Gly551=) | |
| 4 | g.186287805A>C | CA442641176 | F11,F11-AS1 | c.1698A>C (p.Gly566=) c.298A>C c.1536A>C (p.Gly512=) n.217A>C n.1066+623T>G c.1701A>C (p.Gly567=) c.1605A>C (p.Gly535=) c.1431A>C (p.Gly477=) c.1653A>C (p.Gly551=) | |
| 4 | g.186287805A>G | CA442641178 | F11,F11-AS1 | c.1698A>G (p.Gly566=) c.298A>G c.1536A>G (p.Gly512=) n.217A>G n.1066+623T>C c.1701A>G (p.Gly567=) c.1605A>G (p.Gly535=) c.1431A>G (p.Gly477=) c.1653A>G (p.Gly551=) | dbSNP |
| 4 | g.186287805A>T | CA442641179 | F11,F11-AS1 | c.1698A>T (p.Gly566=) c.298A>T c.1536A>T (p.Gly512=) n.217A>T n.1066+623T>A c.1701A>T (p.Gly567=) c.1605A>T (p.Gly535=) c.1431A>T (p.Gly477=) c.1653A>T (p.Gly551=) | |
| 4 | g.186287806G>A | CA358945718 | F11,F11-AS1 | c.1699G>A (p.Gly567Arg) c.299G>A c.1537G>A (p.Gly513Arg) n.218G>A n.1066+622C>T c.1702G>A (p.Gly568Arg) c.1606G>A (p.Gly536Arg) c.1432G>A (p.Gly478Arg) c.1654G>A (p.Gly552Arg) | ClinVar dbSNP gnomAD v4 |
| 4 | g.186287806G>C | CA358945716 | F11,F11-AS1 | c.1699G>C (p.Gly567Arg) c.299G>C c.1537G>C (p.Gly513Arg) n.218G>C n.1066+622C>G c.1702G>C (p.Gly568Arg) c.1606G>C (p.Gly536Arg) c.1432G>C (p.Gly478Arg) c.1654G>C (p.Gly552Arg) | |
| 4 | g.186287806G= | CA1519939447 | F11,F11-AS1 | c.1699G= (p.Gly567=) c.299G= c.1537G= (p.Gly513=) n.218G= n.1066+622C= c.1702G= (p.Gly568=) c.1606G= (p.Gly536=) c.1432G= (p.Gly478=) c.1654G= (p.Gly552=) | |
| 4 | g.186287806G>T | CA358945717 | F11,F11-AS1 | c.1699G>T (p.Gly567Trp) c.299G>T c.1537G>T (p.Gly513Trp) n.218G>T n.1066+622C>A c.1702G>T (p.Gly568Trp) c.1606G>T (p.Gly536Trp) c.1432G>T (p.Gly478Trp) c.1654G>T (p.Gly552Trp) | |
| 4 | g.186287807G>A | CA358945719 | F11,F11-AS1 | c.1700G>A (p.Gly567Glu) c.300G>A c.1538G>A (p.Gly513Glu) n.219G>A n.1066+621C>T c.1703G>A (p.Gly568Glu) c.1607G>A (p.Gly536Glu) c.1433G>A (p.Gly478Glu) c.1655G>A (p.Gly552Glu) | gnomAD v4 |
| 4 | g.186287807G>C | CA358945720 | F11,F11-AS1 | c.1700G>C (p.Gly567Ala) c.300G>C c.1538G>C (p.Gly513Ala) n.219G>C n.1066+621C>G c.1703G>C (p.Gly568Ala) c.1607G>C (p.Gly536Ala) c.1433G>C (p.Gly478Ala) c.1655G>C (p.Gly552Ala) | |
| 4 | g.186287807G>T | CA358945721 | F11,F11-AS1 | c.1700G>T (p.Gly567Val) c.300G>T c.1538G>T (p.Gly513Val) n.219G>T n.1066+621C>A c.1703G>T (p.Gly568Val) c.1607G>T (p.Gly536Val) c.1433G>T (p.Gly478Val) c.1655G>T (p.Gly552Val) | |
| 4 | g.186287808G>A | CA442641184 | F11,F11-AS1 | c.1701G>A (p.Gly567=) c.301G>A c.1539G>A (p.Gly513=) n.220G>A n.1066+620C>T c.1704G>A (p.Gly568=) c.1608G>A (p.Gly536=) c.1434G>A (p.Gly478=) c.1656G>A (p.Gly552=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186287808G>C | CA442641183 | F11,F11-AS1 | c.1701G>C (p.Gly567=) c.301G>C c.1539G>C (p.Gly513=) n.220G>C n.1066+620C>G c.1704G>C (p.Gly568=) c.1608G>C (p.Gly536=) c.1434G>C (p.Gly478=) c.1656G>C (p.Gly552=) | gnomAD v4 |
| 4 | g.186287808G= | CA1519939448 | F11,F11-AS1 | c.1701G= (p.Gly567=) c.301G= c.1539G= (p.Gly513=) n.220G= n.1066+620C= c.1704G= (p.Gly568=) c.1608G= (p.Gly536=) c.1434G= (p.Gly478=) c.1656G= (p.Gly552=) | |
| 4 | g.186287808G>T | CA442641182 | F11,F11-AS1 | c.1701G>T (p.Gly567=) c.301G>T c.1539G>T (p.Gly513=) n.220G>T n.1066+620C>A c.1704G>T (p.Gly568=) c.1608G>T (p.Gly536=) c.1434G>T (p.Gly478=) c.1656G>T (p.Gly552=) | |
| 4 | g.186287809A>C | CA358945722 | F11,F11-AS1 | c.1702A>C (p.Lys568Gln) c.302A>C c.1540A>C (p.Lys514Gln) n.221A>C n.1066+619T>G c.1705A>C (p.Lys569Gln) c.1609A>C (p.Lys537Gln) c.1435A>C (p.Lys479Gln) c.1657A>C (p.Lys553Gln) | |
| 4 | g.186287809A>G | CA358945723 | F11,F11-AS1 | c.1702A>G (p.Lys568Glu) c.302A>G c.1540A>G (p.Lys514Glu) n.221A>G n.1066+619T>C c.1705A>G (p.Lys569Glu) c.1609A>G (p.Lys537Glu) c.1435A>G (p.Lys479Glu) c.1657A>G (p.Lys553Glu) | |
| 4 | g.186287809A>T | CA358945724 | F11,F11-AS1 | c.1702A>T (p.Lys568Ter) c.302A>T c.1540A>T (p.Lys514Ter) n.221A>T n.1066+619T>A c.1705A>T (p.Lys569Ter) c.1609A>T (p.Lys537Ter) c.1435A>T (p.Lys479Ter) c.1657A>T (p.Lys553Ter) | |
| 4 | g.186287810A>C | CA358945725 | F11,F11-AS1 | c.1703A>C (p.Lys568Thr) c.303A>C c.1541A>C (p.Lys514Thr) n.222A>C n.1066+618T>G c.1706A>C (p.Lys569Thr) c.1610A>C (p.Lys537Thr) c.1436A>C (p.Lys479Thr) c.1658A>C (p.Lys553Thr) | |
| 4 | g.186287810A>G | CA358945726 | F11,F11-AS1 | c.1703A>G (p.Lys568Arg) c.303A>G c.1541A>G (p.Lys514Arg) n.222A>G n.1066+618T>C c.1706A>G (p.Lys569Arg) c.1610A>G (p.Lys537Arg) c.1436A>G (p.Lys479Arg) c.1658A>G (p.Lys553Arg) | |
| 4 | g.186287810A>T | CA358945727 | F11,F11-AS1 | c.1703A>T (p.Lys568Met) c.303A>T c.1541A>T (p.Lys514Met) n.222A>T n.1066+618T>A c.1706A>T (p.Lys569Met) c.1610A>T (p.Lys537Met) c.1436A>T (p.Lys479Met) c.1658A>T (p.Lys553Met) | |
| 4 | g.186287810_186287811delinsAG | CA1519939449 | F11,F11-AS1 | c.1703_1704delinsAG (p.Lys568=) c.303_304delinsAG c.1541_1542delinsAG (p.Lys514=) n.222_223delinsAG n.1066+617_1066+618delinsCT c.1706_1707delinsAG (p.Lys569=) c.1610_1611delinsAG (p.Lys537=) c.1436_1437delinsAG (p.Lys479=) c.1658_1659delinsAG (p.Lys553=) | |
| 4 | g.186287811G>A | CA442641188 | F11,F11-AS1 | c.1704G>A (p.Lys568=) c.304G>A c.1542G>A (p.Lys514=) n.223G>A n.1066+617C>T c.1707G>A (p.Lys569=) c.1611G>A (p.Lys537=) c.1437G>A (p.Lys479=) c.1659G>A (p.Lys553=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186287811G>C | CA358945728 | F11,F11-AS1 | c.1704G>C (p.Lys568Asn) c.304G>C c.1542G>C (p.Lys514Asn) n.223G>C n.1066+617C>G c.1707G>C (p.Lys569Asn) c.1611G>C (p.Lys537Asn) c.1437G>C (p.Lys479Asn) c.1659G>C (p.Lys553Asn) | |
| 4 | g.186287811G= | CA1519939451 | F11,F11-AS1 | c.1704G= (p.Lys568=) c.304G= c.1542G= (p.Lys514=) n.223G= n.1066+617C= c.1707G= (p.Lys569=) c.1611G= (p.Lys537=) c.1437G= (p.Lys479=) c.1659G= (p.Lys553=) | |
| 4 | g.186287811G>T | CA358945729 | F11,F11-AS1 | c.1704G>T (p.Lys568Asn) c.304G>T c.1542G>T (p.Lys514Asn) n.223G>T n.1066+617C>A c.1707G>T (p.Lys569Asn) c.1611G>T (p.Lys537Asn) c.1437G>T (p.Lys479Asn) c.1659G>T (p.Lys553Asn) | |
| 4 | g.186287812del | CA1519939450 | F11,F11-AS1 | c.1705del (p.Asp569ThrfsTer22) c.305del c.1543del (p.Asp515ThrfsTer22) n.224del n.1066+617del c.1708del (p.Asp570ThrfsTer22) c.1612del (p.Asp538ThrfsTer22) c.1438del (p.Asp480ThrfsTer22) c.1660del (p.Asp554ThrfsTer22) | dbSNP |
| 4 | g.186287812G>A | CA358945732 | F11,F11-AS1 | c.1705G>A (p.Asp569Asn) c.305G>A c.1543G>A (p.Asp515Asn) n.224G>A n.1066+616C>T c.1708G>A (p.Asp570Asn) c.1612G>A (p.Asp538Asn) c.1438G>A (p.Asp480Asn) c.1660G>A (p.Asp554Asn) | |
| 4 | g.186287812G>C | CA358945730 | F11,F11-AS1 | c.1705G>C (p.Asp569His) c.305G>C c.1543G>C (p.Asp515His) n.224G>C n.1066+616C>G c.1708G>C (p.Asp570His) c.1612G>C (p.Asp538His) c.1438G>C (p.Asp480His) c.1660G>C (p.Asp554His) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186287812G= | CA1519939452 | F11,F11-AS1 | c.1705G= (p.Asp569=) c.305G= c.1543G= (p.Asp515=) n.224G= n.1066+616C= c.1708G= (p.Asp570=) c.1612G= (p.Asp538=) c.1438G= (p.Asp480=) c.1660G= (p.Asp554=) | |
| 4 | g.186287812G>T | CA358945731 | F11,F11-AS1 | c.1705G>T (p.Asp569Tyr) c.305G>T c.1543G>T (p.Asp515Tyr) n.224G>T n.1066+616C>A c.1708G>T (p.Asp570Tyr) c.1612G>T (p.Asp538Tyr) c.1438G>T (p.Asp480Tyr) c.1660G>T (p.Asp554Tyr) | |
| 4 | g.186287813A>C | CA358945733 | F11,F11-AS1 | c.1706A>C (p.Asp569Ala) c.306A>C c.1544A>C (p.Asp515Ala) n.225A>C n.1066+615T>G c.1709A>C (p.Asp570Ala) c.1613A>C (p.Asp538Ala) c.1439A>C (p.Asp480Ala) c.1661A>C (p.Asp554Ala) | |
| 4 | g.186287813A>G | CA358945734 | F11,F11-AS1 | c.1706A>G (p.Asp569Gly) c.306A>G c.1544A>G (p.Asp515Gly) n.225A>G n.1066+615T>C c.1709A>G (p.Asp570Gly) c.1613A>G (p.Asp538Gly) c.1439A>G (p.Asp480Gly) c.1661A>G (p.Asp554Gly) |