PARP12

PARP12 poly(ADP-ribose) polymerase family member 12

Annotation transcript: NM_022750.4

669 unique variant annotations were identified in 317 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
7-139723596-G-A c.*764C>T - 3-UTRSNV 12/12 - 1
7-139723742-C-T c.*618G>A - 3-UTRSNV 12/12 - 2
7-139724070-T-C c.*290A>G - 3-UTRSNV 12/12 - 1
7-139724169-A-G c.*191T>C - 3-UTRSNV 12/12 - 8
7-139724274-A-G c.*86T>C - 3-UTRSNV 12/12 - 1
7-139724358-G-A c.*2C>T - 3-UTRSNV 12/12 - 13
7-139724367-C-T c.2099G>A p.R700Q Missense 12/12 - 4
7-139724381-G-A c.2085C>T p.S695= Synonymous 12/12 - 1
7-139724382-G-A c.2084C>T p.S695F Missense 12/12 - 1
7-139724391-G-A c.2075C>T p.A692V Missense 12/12 - 1
7-139724393-C-G c.2073G>C p.L691= Synonymous 12/12 - 1
7-139724399-G-A c.2067C>T p.I689= Synonymous 12/12 - 1
7-139724403-G-A c.2063C>T p.S688F Missense 12/12 - 1
7-139724407-G-A c.2059C>T p.P687S Missense 12/12 - 2
7-139724409-G-A c.2057C>T p.T686I Missense 12/12 - 1
7-139724414-C-G c.2052G>C p.S684= Synonymous 12/12 - 1
7-139724415-G-A c.2051C>T p.S684L Missense 12/12 - 3
7-139724423-G-A c.2043C>T p.S681= Synonymous 12/12 - 2
7-139724424-G-C c.2042C>G p.S681C Missense 12/12 - 1
7-139724424-G-T c.2042C>A p.S681Y Missense 12/12 - 2
7-139724428-A-T c.2038T>A p.S680T Missense 12/12 - 2
7-139724430-G-A c.2036C>T p.T679I Missense 12/12 - 3
7-139724438-C-T c.2028G>A p.Q676= Synonymous 12/12 - 1
7-139724440-G-A c.2026C>T p.Q676* Nonsense 12/12 - 5
7-139724441-G-A c.2025C>T p.I675= Synonymous 12/12 - 2
7-139724448-T-C c.2018A>G p.Y673C Missense 12/12 - 1
7-139724452-C-T c.2014G>A p.E672K Missense 12/12 - 1
7-139724453-TG-AT c.2012_2013delinsAT p.P671H Missense 12/12 - 1
7-139724462-C-G c.2004G>C p.Q668H Missense 12/12 - 1
7-139724474-A-C c.1992T>G p.F664L Missense 12/12 - 6
7-139724474-A-T c.1992T>A p.F664L Missense 12/12 - 4
7-139724476-A-G c.1990T>C p.F664L Missense 12/12 - 4
7-139724483-A-C c.1983T>G p.F661L Missense 12/12 - 1
7-139724483-A-T c.1983T>A p.F661L Missense 12/12 - 1
7-139724485-A-G c.1981T>C p.F661L Missense 12/12 - 1
7-139724487-AT-CC c.1978_1979delinsGG p.I660G Missense 12/12 - 1
7-139724487-AT-GC c.1978_1979delinsGC p.I660A Missense 12/12 - 1
7-139724489-G-A c.1977C>T p.S659= Synonymous 12/12 - 1
7-139724492-G-A c.1974C>T p.P658= Synonymous 12/12 - 3
7-139724493-G-A c.1973C>T p.P658L Missense 12/12 - 2
7-139724496-T-A c.1970A>T p.D657V Missense 12/12 - 3
7-139724498-G-A c.1968C>T p.S656= Synonymous 12/12 - 2
7-139724499-G-A c.1967C>T p.S656F Missense 12/12 - 4
7-139724512-C-G c.1954G>C p.V652L Missense 12/12 - 1
7-139724515-A-C c.1951T>G p.C651G Missense 12/12 - 1
7-139724529-G-A c.1937C>T p.A646V Missense 12/12 - 1
7-139724530-C-T c.1936G>A p.A646T Missense 12/12 - 1
7-139724531-G-A c.1935C>T p.N645= Synonymous 12/12 - 2
7-139724532-T-A c.1934A>T p.N645I Missense 12/12 - 1
7-139724540-G-A c.1926C>T p.G642= Synonymous 12/12 - 1
7-139724543-C-A c.1923G>T p.E641D Missense 12/12 - 4
7-139724545-C-T c.1921G>A p.E641K Missense 12/12 - 2
7-139724549-G-A c.1917C>T p.A639= Synonymous 12/12 - 1
7-139724549-G-C c.1917C>G p.A639= Synonymous 12/12 - 2
7-139724549-G-T c.1917C>A p.A639= Synonymous 12/12 - 1
7-139724553-G-C c.1913C>G p.P638R Missense 12/12 - 1
7-139724555-C-A c.1911G>T p.P637= Synonymous 12/12 - 5
7-139724555-C-G c.1911G>C p.P637= Synonymous 12/12 - 19
7-139724555-C-T c.1911G>A p.P637= Synonymous 12/12 - 21
7-139724557-G-A c.1909C>T p.P637S Missense 12/12 - 1
7-139724559-C-T c.1907G>A p.R636H Missense 12/12 - 2
7-139724560-G-A c.1906C>T p.R636C Missense 12/12 - 1
7-139724567-G-A c.1899C>T p.S633= Synonymous 12/12 - 2
7-139724568-G-A c.1898C>T p.S633F Missense 12/12 - 6
7-139724571-G-A c.1895C>T p.A632V Missense 12/12 - 2
7-139724585-G-A c.1881C>T p.F627= Synonymous 12/12 - 5
7-139724587-A-G c.1879T>C p.F627L Missense 12/12 - 4
7-139724593-C-A c.1873G>T p.G625C Missense 12/12 - 1
7-139724596-C-A c.1870G>T p.V624L Missense 12/12 - 1
7-139724596-C-G c.1870G>C p.V624L Missense 12/12 - 1
7-139724596-C-T c.1870G>A p.V624M Missense 12/12 - 1
7-139724597-C-A c.1869G>T p.L623= Synonymous 12/12 - 1
7-139724597-C-G c.1869G>C p.L623= Synonymous 12/12 - 1
7-139724597-C-T c.1869G>A p.L623= Synonymous 12/12 - 1
7-139724599-G-A c.1867C>T p.L623= Synonymous 12/12 - 1
7-139724604-C-A c.1862G>T p.R621L Missense 12/12 - 1
7-139724606-G-A c.1860C>T p.A620= Synonymous 12/12 - 1
7-139724606-G-C c.1860C>G p.A620= Synonymous 12/12 - 1
7-139724607-G-A c.1859C>T p.A620V Missense 12/12 - 5
7-139724618-C-T c.1848G>A p.T616= Synonymous 12/12 - 3
7-139724628-T-A c.1838A>T p.Q613L Missense 12/12 - 1
7-139724631-G-A c.1835C>T p.T612M Missense 12/12 - 2
7-139724633-G-C c.1833C>G p.D611E Missense 12/12 - 1
7-139724633-G-T c.1833C>A p.D611E Missense 12/12 - 1
7-139724636-G-A c.1830C>T p.S610= Synonymous 12/12 - 4
7-139724636-G-C c.1830C>G p.S610= Synonymous 12/12 - 2
7-139724636-G-T c.1830C>A p.S610= Synonymous 12/12 - 2
7-139724637-GA-CC c.1828_1829delinsGG p.S610G Missense 12/12 - 1
7-139724638-A-G c.1828T>C p.S610P Missense 12/12 - 1
7-139724642-G-C c.1824C>G p.S608R Missense 12/12 - 3
7-139724642-G-T c.1824C>A p.S608R Missense 12/12 - 4
7-139724644-T-G c.1822A>C p.S608R Missense 12/12 - 3
7-139724654-G-A c.1812C>T p.S604= Synonymous 12/12 - 1
7-139724655-G-A c.1811C>T p.S604F Missense 12/12 - 2
7-139724665-C-T c.1801G>A p.A601T Missense 12/12 - 1
7-139724671-G-A c.1795C>T p.R599* Nonsense 12/12 - 2
7-139724677-A-C c.1789T>G p.F597V Missense 12/12 - 1
7-139724742-G-C c.1781-57C>G - IntronicSNV - 11/11 4
7-139725211-T-C c.1781-526A>G - IntronicSNV - 11/11 1
7-139725437-T-C c.1780+560A>G - IntronicSNV - 11/11 1
7-139725438-T-A c.1780+559A>T - IntronicSNV - 11/11 1
7-139725964-G-A c.1780+33C>T - IntronicSNV - 11/11 1
7-139725964-G-C c.1780+33C>G - IntronicSNV - 11/11 1
7-139726003-C-A c.1774G>T p.G592C Missense 11/12 - 1
7-139726008-G-A c.1769C>T p.S590F Missense 11/12 - 5
7-139726008-G-T c.1769C>A p.S590Y Missense 11/12 - 2
7-139726011-G-A c.1766C>T p.T589I Missense 11/12 - 3
7-139726014-C-A c.1763G>T p.G588V Missense 11/12 - 1
7-139726015-C-G c.1762G>C p.G588R Missense 11/12 - 8
7-139726028-G-A c.1749C>T p.V583= Synonymous 11/12 - 1
7-139726030-C-A c.1747G>T p.V583F Missense 11/12 - 1
7-139726031-CC-AT c.1745_1746delinsAT p.R582H Missense 11/12 - 1
7-139726032-C-T c.1745G>A p.R582Q Missense 11/12 - 2
7-139726033-G-A c.1744C>T p.R582W Missense 11/12 - 5
7-139726038-T-C c.1739A>G p.D580G Missense 11/12 - 2
7-139726044-T-A c.1733A>T p.N578I Missense 11/12 - 1
7-139726046-C-A c.1731G>T p.Q577H Missense 11/12 - 1
7-139726048-G-T c.1729C>A p.Q577K Missense 11/12 - 1
7-139726059-G-A c.1718C>T p.A573V Missense 11/12 - 1
7-139726060-C-T c.1717G>A p.A573T Missense 11/12 - 1
7-139726064-CAC-GAT c.1711_1713delinsATC p.V571I Missense 11/12 - 1
7-139726066-C-T c.1711G>A p.V571M Missense 11/12 - 2
7-139726075-C-T c.1702G>A p.A568T Missense 11/12 - 2
7-139726076-G-A c.1701C>T p.S567= Synonymous 11/12 - 4
7-139726083-C-A c.1694G>T p.G565V Missense 11/12 - 2
7-139726083-C-G c.1694G>C p.G565A Missense 11/12 - 1
7-139726084-C-A c.1693G>T p.G565C Missense 11/12 - 1
7-139726084-C-T c.1693G>A p.G565S Missense 11/12 - 4
7-139726085-G-C c.1692C>G p.H564Q Missense 11/12 - 1
7-139726085-G-T c.1692C>A p.H564Q Missense 11/12 - 1
7-139726086-TG-GC c.1690_1691delinsGC p.H564A Missense 11/12 - 1
7-139726087-G-A c.1690C>T p.H564Y Missense 11/12 - 2
7-139726098-C-A c.1679G>T p.R560L Missense 11/12 - 1
7-139726098-C-T c.1679G>A p.R560Q Missense 11/12 - 1
7-139726099-G-A c.1678C>T p.R560W Missense 11/12 - 2
7-139726106-C-A c.1671G>T p.V557= Synonymous 11/12 - 1
7-139726106-C-G c.1671G>C p.V557= Synonymous 11/12 - 1
7-139726106-C-T c.1671G>A p.V557= Synonymous 11/12 - 2
7-139726108-C-A c.1669G>T p.V557L Missense 11/12 - 1
7-139726108-C-T c.1669G>A p.V557M Missense 11/12 - 1
7-139726111-C-A c.1666G>T p.A556S Missense 11/12 - 2
7-139726114-T-G c.1663A>C p.K555Q Missense 11/12 - 2
7-139726115-C-T c.1662G>A p.G554= Synonymous 11/12 - 1
7-139726120-C-T c.1657G>A p.G553R Missense 11/12 - 1
7-139726121-G-A c.1656C>T p.N552= Synonymous 11/12 - 1
7-139726123-T-A c.1654A>T p.N552Y Missense 11/12 - 5
7-139726123-T-G c.1654A>C p.N552H Missense 11/12 - 1
7-139726127-C-A c.1650G>T p.K550N Missense 11/12 - 1
7-139726127-C-G c.1650G>C p.K550N Missense 11/12 - 1
7-139726130-C-T c.1647G>A p.Q549= Synonymous 11/12 - 2
7-139726207-G-A c.1629-59C>T - IntronicSNV - 10/11 7
7-139726207-G-C c.1629-59C>G - IntronicSNV - 10/11 7
7-139726299-A-AG c.1629-152dup - IntronicInsertion - 10/11 3
7-139726299-A-AGG c.1629-152_1629-151insCC - IntronicInsertion - 10/11 3
7-139726467-A-G c.1629-319T>C - IntronicSNV - 10/11 2
7-139727077-A-C c.1627T>G p.W543G Missense 10/12 - 4
7-139727083-A-G c.1621T>C p.Y541H Missense 10/12 - 1
7-139727089-C-T c.1615G>A p.E539K Missense 10/12 - 2
7-139727091-C-A c.1613G>T p.W538L Missense 10/12 - 1
7-139727092-A-G c.1612T>C p.W538R Missense 10/12 - 1
7-139727092-A-T c.1612T>A p.W538R Missense 10/12 - 1
7-139727097-G-A c.1607C>T p.A536V Missense 10/12 - 1
7-139727101-G-T c.1603C>A p.L535M Missense 10/12 - 2
7-139727107-G-A c.1597C>T p.Q533* Nonsense 10/12 - 1
7-139727110-C-A c.1594G>T p.V532L Missense 10/12 - 1
7-139727113-G-A c.1591C>T p.R531* Nonsense 10/12 - 3
7-139727115-T-A c.1589A>T p.E530V Missense 10/12 - 1
7-139727125-G-A c.1579C>T p.Q527* Nonsense 10/12 - 1
7-139727125-G-C c.1579C>G p.Q527E Missense 10/12 - 1
7-139727128-C-A c.1576G>T p.V526F Missense 10/12 - 2
7-139727135-G-A c.1569C>T p.F523= Synonymous 10/12 - 19
7-139727141-C-G c.1563G>C p.L521= Synonymous 10/12 - 1
7-139727141-C-T c.1563G>A p.L521= Synonymous 10/12 - 1
7-139727144-C-A c.1560G>T p.T520= Synonymous 10/12 - 2
7-139727144-C-G c.1560G>C p.T520= Synonymous 10/12 - 2
7-139727144-C-T c.1560G>A p.T520= Synonymous 10/12 - 2
7-139727145-G-A c.1559C>T p.T520M Missense 10/12 - 1
7-139727146-T-A c.1558A>T p.T520S Missense 10/12 - 1
7-139727147-G-A c.1557C>T p.R519= Synonymous 10/12 - 2
7-139727147-GCG-TCA c.1555_1557delinsTGA p.R519* Nonsense 10/12 - 1
7-139727149-G-A c.1555C>T p.R519C Missense 10/12 - 5
7-139727149-G-T c.1555C>A p.R519S Missense 10/12 - 1
7-139727165-G-C c.1539C>G p.V513= Synonymous 10/12 - 1
7-139727183-C-A c.1521G>T p.S507= Synonymous 10/12 - 1
7-139727183-C-G c.1521G>C p.S507= Synonymous 10/12 - 1
7-139727183-CG-AT c.1520_1521delinsAT p.S507Y Missense 10/12 - 1
7-139727183-C-T c.1521G>A p.S507= Synonymous 10/12 - 3
7-139727184-G-A c.1520C>T p.S507L Missense 10/12 - 1
7-139727186-G-A c.1518C>T p.S506= Synonymous 10/12 - 1
7-139727186-G-C c.1518C>G p.S506= Synonymous 10/12 - 1
7-139727186-G-T c.1518C>A p.S506= Synonymous 10/12 - 1
7-139727187-G-A c.1517C>T p.S506F Missense 10/12 - 1
7-139727197-G-A c.1507C>T p.L503F Missense 10/12 - 1
7-139727201-G-A c.1503C>T p.I501= Synonymous 10/12 - 1
7-139727201-G-T c.1503C>A p.I501= Synonymous 10/12 - 1
7-139728400-A-G c.1497+13T>C - IntronicSNV - 9/11 1
7-139728443-AG-A c.1467del p.S490Pfs*163 Frameshift 9/12 - 1
7-139728446-C-A c.1464G>T p.W488C Missense 9/12 - 1
7-139728446-C-G c.1464G>C p.W488C Missense 9/12 - 1
7-139728446-C-T c.1464G>A p.W488* Nonsense 9/12 - 1
7-139728447-C-T c.1463G>A p.W488* Nonsense 9/12 - 1
7-139728452-G-C c.1458C>G p.D486E Missense 9/12 - 1
7-139728452-G-T c.1458C>A p.D486E Missense 9/12 - 1
7-139728464-C-A c.1446G>T p.K482N Missense 9/12 - 2
7-139728464-C-G c.1446G>C p.K482N Missense 9/12 - 1
7-139728467-C-T c.1443G>A p.P481= Synonymous 9/12 - 1
7-139728470-G-A c.1440C>T p.G480= Synonymous 9/12 - 1
7-139728470-G-C c.1440C>G p.G480= Synonymous 9/12 - 1
7-139728470-G-T c.1440C>A p.G480= Synonymous 9/12 - 1
7-139728474-G-A c.1436C>T p.P479L Missense 9/12 - 2
7-139728475-G-A c.1435C>T p.P479S Missense 9/12 - 5
7-139728552-G-C c.1422-64C>G - IntronicSNV - 8/11 1
7-139728584-A-C c.1422-96T>G - IntronicSNV - 8/11 7
7-139728584-A-T c.1422-96T>A - IntronicSNV - 8/11 7
7-139731709-G-A c.1421+2326C>T - IntronicSNV - 8/11 1
7-139732137-GT-G c.1421+1897del - IntronicDeletion - 8/11 1
7-139734037-G-A c.1419C>T p.T473= Synonymous 8/12 - 1
7-139734044-A-G c.1412T>C p.M471T Missense 8/12 - 1
7-139734046-G-A c.1410C>T p.T470= Synonymous 8/12 - 1
7-139734046-G-C c.1410C>G p.T470= Synonymous 8/12 - 1
7-139734046-G-T c.1410C>A p.T470= Synonymous 8/12 - 1
7-139734048-T-C c.1408A>G p.T470A Missense 8/12 - 1
7-139734049-C-A c.1407G>T p.T469= Synonymous 8/12 - 1
7-139734049-C-G c.1407G>C p.T469= Synonymous 8/12 - 1
7-139734049-C-T c.1407G>A p.T469= Synonymous 8/12 - 4
7-139734050-G-A c.1406C>T p.T469M Missense 8/12 - 2
7-139734067-C-A c.1389G>T p.V463= Synonymous 8/12 - 1
7-139734067-C-G c.1389G>C p.V463= Synonymous 8/12 - 1
7-139734067-C-T c.1389G>A p.V463= Synonymous 8/12 - 1
7-139734069-C-A c.1387G>T p.V463L Missense 8/12 - 1
7-139734069-C-T c.1387G>A p.V463M Missense 8/12 - 9
7-139734078-G-A c.1378C>T p.P460S Missense 8/12 - 1
7-139734079-TCT-CCA c.1375_1377delinsTGG p.R459W Missense 8/12 - 1
7-139734083-C-T c.1373G>A p.R458H Missense 8/12 - 2
7-139734086-C-T c.1370G>A p.C457Y Missense 8/12 - 1
7-139734092-T-C c.1364A>G p.K455R Missense 8/12 - 1
7-139734091-CT-C c.1364del p.K455Rfs*14 Frameshift 8/12 - 3
7-139734109-G-C c.1347C>G p.V449= Synonymous 8/12 - 1
7-139734111-C-T c.1345G>A p.V449I Missense 8/12 - 2
7-139734114-G-T c.1342C>A p.L448M Missense 8/12 - 3
7-139734126-C-A c.1330G>T p.V444F Missense 8/12 - 3
7-139734127-G-A c.1329C>T p.F443= Synonymous 8/12 - 4
7-139734130-G-T c.1326C>A p.A442= Synonymous 8/12 - 1
7-139734373-C-T c.1325-242G>A - IntronicSNV - 7/11 2
7-139735637-A-G c.1325-1506T>C - IntronicSNV - 7/11 1
7-139737344-C-T c.1324+171G>A - IntronicSNV - 7/11 1
7-139737515-C-T c.1324G>A p.A442T Missense 7/12 - 3
7-139737516-T-C c.1323A>G p.K441= Synonymous 7/12 - 1
7-139737523-T-C c.1316A>G p.D439G Missense 7/12 - 1
7-139737524-C-G c.1315G>C p.D439H Missense 7/12 - 1
7-139737530-C-T c.1309G>A p.E437K Missense 7/12 - 4
7-139737533-A-G c.1306T>C p.Y436H Missense 7/12 - 1
7-139737540-C-G c.1299G>C p.K433N Missense 7/12 - 2
7-139737540-C-T c.1299G>A p.K433= Synonymous 7/12 - 1
7-139737545-C-T c.1294G>A p.G432R Missense 7/12 - 3
7-139737550-T-C c.1289A>G p.Q430R Missense 7/12 - 1
7-139737552-G-C c.1287C>G p.F429L Missense 7/12 - 1
7-139737552-G-T c.1287C>A p.F429L Missense 7/12 - 1
7-139737554-A-G c.1285T>C p.F429L Missense 7/12 - 1
7-139737556-T-C c.1283A>G p.K428R Missense 7/12 - 3
7-139737561-G-T c.1278delinsA p.T426T Missense 7/12 - 1
7-139737565-G-A c.1274C>T p.A425V Missense 7/12 - 1
7-139737570-C-A c.1269G>T p.Q423H Missense 7/12 - 2
7-139737570-C-G c.1269G>C p.Q423H Missense 7/12 - 1
7-139737572-G-A c.1267C>T p.Q423* Nonsense 7/12 - 1
7-139737573-G-C c.1266C>G p.G422= Synonymous 7/12 - 1
7-139737574-C-T c.1265G>A p.G422D Missense 7/12 - 1
7-139737580-G-GA c.1258dup p.S420Ffs*2 Frameshift 7/12 - 1
7-139737585-C-A c.1254G>T p.P418= Synonymous 7/12 - 1
7-139737585-C-G c.1254G>C p.P418= Synonymous 7/12 - 2
7-139737585-C-T c.1254G>A p.P418= Synonymous 7/12 - 2
7-139737602-G-A c.1237C>T p.L413= Synonymous 7/12 - 2
7-139737607-G-A c.1232C>T p.A411V Missense 7/12 - 3
7-139737608-C-T c.1231G>A p.A411T Missense 7/12 - 2
7-139737613-T-C c.1226A>G p.E409G Missense 7/12 - 1
7-139737618-G-A c.1221C>T p.D407= Synonymous 7/12 - 1
7-139737619-T-C c.1220A>G p.D407G Missense 7/12 - 1
7-139737621-G-A c.1218C>T p.S406= Synonymous 7/12 - 2
7-139737628-CT-AG c.1210_1211inv p.S404L Missense 7/12 - 1
7-139737630-G-A c.1209C>T p.V403= Synonymous 7/12 - 1
7-139737630-G-C c.1209C>G p.V403= Synonymous 7/12 - 1
7-139737630-G-T c.1209C>A p.V403= Synonymous 7/12 - 1
7-139737631-A-G c.1208T>C p.V403A Missense 7/12 - 2
7-139737633-A-C c.1206T>G p.T402= Synonymous 7/12 - 2
7-139737633-A-G c.1206T>C p.T402= Synonymous 7/12 - 2
7-139737633-A-T c.1206T>A p.T402= Synonymous 7/12 - 2
7-139737642-AG-A c.1196del p.P399Lfs*2 Frameshift 7/12 - 1
7-139737649-A-C c.1190T>G p.V397G Missense 7/12 - 2
7-139737650-C-A c.1189G>T p.V397L Missense 7/12 - 2
7-139737652-G-A c.1187C>T p.T396M Missense 7/12 - 1
7-139737656-C-G c.1183G>C p.G395R Missense 7/12 - 1
7-139741443-C-A c.1182+1G>T - IntronicSNV - 6/11 2
7-139741451-C-T c.1175G>A p.G392E Missense 6/12 - 1
7-139741453-A-T c.1173T>A p.Y391* Nonsense 6/12 - 2
7-139741454-T-C c.1172A>G p.Y391C Missense 6/12 - 1
7-139741458-C-A c.1168G>T p.E390* Nonsense 6/12 - 2
7-139741466-G-T c.1160C>A p.S387Y Missense 6/12 - 1
7-139741470-CA-C c.1155del p.F385Lfs*16 Frameshift 6/12 - 1
7-139741475-T-G c.1151A>C p.E384A Missense 6/12 - 2
7-139741476-C-G c.1150G>C p.E384Q Missense 6/12 - 1
7-139741481-C-A c.1145G>T p.S382I Missense 6/12 - 1
7-139741483-C-A c.1143G>T p.W381C Missense 6/12 - 3
7-139741483-C-G c.1143G>C p.W381C Missense 6/12 - 2
7-139741483-C-T c.1143G>A p.W381* Nonsense 6/12 - 1
7-139741484-C-A c.1142G>T p.W381L Missense 6/12 - 1
7-139741492-A-C c.1134T>G p.I378M Missense 6/12 - 1
7-139741500-C-T c.1126G>A p.D376N Missense 6/12 - 1
7-139741507-G-A c.1119C>T p.L373= Synonymous 6/12 - 1
7-139741513-G-A c.1113C>T p.F371= Synonymous 6/12 - 1
7-139741520-G-T c.1106C>A p.P369Q Missense 6/12 - 1
7-139741525-T-C c.1101A>G p.K367= Synonymous 6/12 - 2
7-139741535-G-A c.1091C>T p.S364F Missense 6/12 - 1
7-139741535-G-C c.1091C>G p.S364C Missense 6/12 - 1
7-139741539-A-G c.1087T>C p.S363P Missense 6/12 - 1
7-139741542-C-T c.1084G>A p.A362T Missense 6/12 - 2
7-139741547-G-A c.1079C>T p.S360F Missense 6/12 - 1
7-139741549-G-A c.1077C>T p.L359= Synonymous 6/12 - 1
7-139741549-G-C c.1077C>G p.L359= Synonymous 6/12 - 1
7-139741549-G-T c.1077C>A p.L359= Synonymous 6/12 - 1
7-139741556-C-T c.1070G>A p.R357H Missense 6/12 - 1
7-139741561-C-A c.1065G>T p.Q355H Missense 6/12 - 1
7-139741565-G-A c.1061C>T p.T354I Missense 6/12 - 1
7-139741568-G-A c.1058C>T p.A353V Missense 6/12 - 1
7-139741572-C-A c.1054G>T p.G352C Missense 6/12 - 2
7-139741573-G-A c.1053C>T p.Y351= Synonymous 6/12 - 1
7-139741581-T-C c.1045A>G p.M349V Missense 6/12 - 1
7-139741584-C-A c.1042G>T p.A348S Missense 6/12 - 1
7-139741585-G-A c.1041C>T p.N347= Synonymous 6/12 - 1
7-139741604-GA-TT c.1021_1022delinsAA p.S341N Missense 6/12 - 1
7-139741620-C-T c.1006G>A p.A336T Missense 6/12 - 2
7-139741621-TG-AA c.1004_1005delinsTT p.S335F Missense 6/12 - 1
7-139741626-C-G c.1000G>C p.E334Q Missense 6/12 - 2
7-139741627-A-G c.999T>C p.S333= Synonymous 6/12 - 2
7-139741630-G-T c.996C>A p.C332* Nonsense 6/12 - 1
7-139741631-C-A c.995G>T p.C332F Missense 6/12 - 3
7-139741633-C-A c.993G>T p.L331= Synonymous 6/12 - 1
7-139741633-C-G c.993G>C p.L331= Synonymous 6/12 - 1
7-139741633-C-T c.993G>A p.L331= Synonymous 6/12 - 1
7-139741635-G-A c.991C>T p.L331= Synonymous 6/12 - 1
7-139741635-G-T c.991C>A p.L331M Missense 6/12 - 1
7-139741636-G-A c.990C>T p.I330= Synonymous 6/12 - 1
7-139741786-C-T c.987-147G>A - IntronicSNV - 5/11 1
7-139746513-T-C c.986+171A>G - IntronicSNV - 5/11 1
7-139746514-G-T c.986+170C>A - IntronicSNV - 5/11 1
7-139746521-AGTGT-A c.986+159_986+162del - IntronicDeletion - 5/11 1
7-139746521-AGT-A c.986+161_986+162del - IntronicDeletion - 5/11 2
7-139746556-G-C c.986+128C>G - IntronicSNV - 5/11 1
7-139746557-T-A c.986+127A>T - IntronicSNV - 5/11 1
7-139746599-AGTGT-A c.986+81_986+84del - IntronicDeletion - 5/11 1
7-139746632-G-C c.986+52C>G - IntronicSNV - 5/11 3
7-139746633-T-A c.986+51A>T - IntronicSNV - 5/11 3
7-139746684-C-T c.986G>A p.R329K Missense 5/12 - 1
7-139746684-CT-TG c.985_986delinsCA p.R329Q Missense 5/12 - 1
7-139746691-T-A c.979A>T p.I327L Missense 5/12 - 1
7-139746692-T-A c.978A>T p.K326N Missense 5/12 - 1
7-139746692-T-G c.978A>C p.K326N Missense 5/12 - 1
7-139746694-T-TA c.975_976insT p.K326* Nonsense 5/12 - 1
7-139746695-G-A c.975C>T p.P325= Synonymous 5/12 - 1
7-139746695-G-C c.975C>G p.P325= Synonymous 5/12 - 1
7-139746695-G-T c.975C>A p.P325= Synonymous 5/12 - 1
7-139746696-G-A c.974C>T p.P325L Missense 5/12 - 1
7-139746702-C-T c.968G>A p.C323Y Missense 5/12 - 2
7-139746703-A-G c.967T>C p.C323R Missense 5/12 - 1
7-139746704-A-C c.966T>G p.Y322* Nonsense 5/12 - 1
7-139746705-T-C c.965A>G p.Y322C Missense 5/12 - 1
7-139746709-C-T c.961G>A p.A321T Missense 5/12 - 2
7-139746715-C-T c.955G>A p.E319K Missense 5/12 - 2
7-139746720-A-C c.950T>G p.L317R Missense 5/12 - 1
7-139746731-G-A c.939C>T p.D313= Synonymous 5/12 - 2
7-139746738-T-A c.932A>T p.D311V Missense 5/12 - 1
7-139746739-C-T c.931G>A p.D311N Missense 5/12 - 1
7-139746740-C-A c.930G>T p.E310D Missense 5/12 - 1
7-139746740-C-G c.930G>C p.E310D Missense 5/12 - 1
7-139746742-C-G c.928G>C p.E310Q Missense 5/12 - 1
7-139746761-G-A c.909C>T p.F303= Synonymous 5/12 - 1
7-139746766-G-A c.904C>T p.Q302* Nonsense 5/12 - 1
7-139746767-C-T c.903G>A p.W301* Nonsense 5/12 - 1
7-139746768-C-A c.902G>T p.W301L Missense 5/12 - 1
7-139746768-C-T c.902G>A p.W301* Nonsense 5/12 - 1
7-139746769-A-G c.901T>C p.W301R Missense 5/12 - 1
7-139746769-A-T c.901T>A p.W301R Missense 5/12 - 1
7-139746771-C-T c.899G>A p.R300Q Missense 5/12 - 3
7-139746772-G-A c.898C>T p.R300* Nonsense 5/12 - 1
7-139746774-T-A c.896A>T p.Y299F Missense 5/12 - 2
7-139746775-A-T c.895T>A p.Y299N Missense 5/12 - 1
7-139746776-C-A c.894G>T p.P298= Synonymous 5/12 - 1
7-139746776-C-G c.894G>C p.P298= Synonymous 5/12 - 1
7-139746776-C-T c.894G>A p.P298= Synonymous 5/12 - 3
7-139746777-G-A c.893C>T p.P298L Missense 5/12 - 2
7-139746777-G-T c.893C>A p.P298Q Missense 5/12 - 1
7-139746779-C-G c.891G>C p.L297F Missense 5/12 - 1
7-139746784-G-A c.886C>T p.H296Y Missense 5/12 - 2
7-139746785-G-A c.885C>T p.F295= Synonymous 5/12 - 3
7-139746790-G-A c.880C>T p.H294Y Missense 5/12 - 4
7-139746792-A-G c.878T>C p.V293A Missense 5/12 - 2
7-139746793-C-G c.877G>C p.V293L Missense 5/12 - 2
7-139746793-C-T c.877G>A p.V293I Missense 5/12 - 12
7-139746795-C-T c.875G>A p.R292K Missense 5/12 - 1
7-139746798-T-G c.872A>C p.H291P Missense 5/12 - 1
7-139746799-G-A c.871C>T p.H291Y Missense 5/12 - 2
7-139749346-G-A c.863-2539C>T - IntronicSNV - 4/11 1
7-139751188-AT-A c.862+3273del - IntronicDeletion - 4/11 1
7-139754451-T-A c.862+11A>T - IntronicSNV - 4/11 7
7-139754451-T-C c.862+11A>G - IntronicSNV - 4/11 10
7-139754464-T-A c.860A>T p.Q287L Missense 4/12 - 1
7-139754469-G-A c.855C>T p.S285= Synonymous 4/12 - 1
7-139754471-T-C c.853A>G p.S285G Missense 4/12 - 3
7-139754476-C-T c.848G>A p.S283N Missense 4/12 - 2
7-139754482-C-T c.842G>A p.R281Q Missense 4/12 - 5
7-139754483-G-A c.841C>T p.R281W Missense 4/12 - 3
7-139754484-G-A c.840C>T p.I280= Synonymous 4/12 - 3
7-139754484-G-T c.840C>A p.I280= Synonymous 4/12 - 1
7-139754505-A-G c.819T>C p.D273= Synonymous 4/12 - 3
7-139754510-C-T c.814G>A p.G272S Missense 4/12 - 1
7-139754513-C-T c.811G>A p.E271K Missense 4/12 - 1
7-139754515-T-A c.809A>T p.E270V Missense 4/12 - 1
7-139754516-C-T c.808G>A p.E270K Missense 4/12 - 2
7-139754524-A-G c.800T>C p.L267P Missense 4/12 - 1
7-139754526-A-C c.798T>G p.T266= Synonymous 4/12 - 1
7-139754526-A-G c.798T>C p.T266= Synonymous 4/12 - 1
7-139754526-A-T c.798T>A p.T266= Synonymous 4/12 - 1
7-139754527-G-A c.797C>T p.T266I Missense 4/12 - 5
7-139754532-T-C c.792A>G p.P264= Synonymous 4/12 - 1
7-139754533-G-A c.791C>T p.P264L Missense 4/12 - 1
7-139754535-G-C c.789C>G p.S263= Synonymous 4/12 - 2
7-139754536-GA-CC c.787_788delinsGG p.S263G Missense 4/12 - 1
7-139754539-A-G c.785T>C p.V262A Missense 4/12 - 1
7-139754541-A-C c.783T>G p.S261= Synonymous 4/12 - 1
7-139754541-A-G c.783T>C p.S261= Synonymous 4/12 - 1
7-139754541-A-T c.783T>A p.S261= Synonymous 4/12 - 1
7-139754546-C-T c.778G>A p.G260S Missense 4/12 - 1
7-139754548-G-A c.776C>T p.S259L Missense 4/12 - 2
7-139754551-CT-AG c.772_773inv p.S258L Missense 4/12 - 1
7-139754553-G-A c.771C>T p.D257= Synonymous 4/12 - 1
7-139754554-T-C c.770A>G p.D257G Missense 4/12 - 1
7-139754561-T-TA c.762_763insT p.R255* SpliceAcceptorInsertion 4/12 - 1
7-139754561-T-TC c.762_763insG p.R255Efs*14 SpliceAcceptorInsertion 4/12 - 1
7-139754561-T-TG c.762_763insC p.R255Qfs*14 SpliceAcceptorInsertion 4/12 - 1
7-139754560-C-CT c.763dup p.R255Kfs*14 Frameshift - - 1
7-139754560-CT-C c.763del p.R255Efs*73 Frameshift 4/12 - 3
7-139754685-G-A c.761-122C>T - IntronicSNV - 3/11 1
7-139754819-T-C c.761-256A>G - IntronicSNV - 3/11 2
7-139756458-A-T c.760+198T>A - IntronicSNV - 3/11 1
7-139756658-G-A c.758C>T p.S253F Missense 3/12 - 2
7-139756658-GA-AG c.757_758delinsCT p.S253L Missense 3/12 - 1
7-139756660-A-C c.756T>G p.T252= Synonymous 3/12 - 1
7-139756660-A-G c.756T>C p.T252= Synonymous 3/12 - 1
7-139756660-A-T c.756T>A p.T252= Synonymous 3/12 - 1
7-139756666-C-A c.750G>T p.Q250H Missense 3/12 - 1
7-139756666-C-G c.750G>C p.Q250H Missense 3/12 - 1
7-139756668-TG-T c.748del p.Q250Rfs*78 Frameshift 3/12 - 1
7-139756669-T-A c.747A>T p.P249= Synonymous 3/12 - 1
7-139756669-T-C c.747A>G p.P249= Synonymous 3/12 - 1
7-139756669-T-G c.747A>C p.P249= Synonymous 3/12 - 1
7-139756671-G-A c.745C>T p.P249S Missense 3/12 - 3
7-139756680-G-A c.736C>T p.L246F Missense 3/12 - 2
7-139756691-C-G c.725G>C p.R242T Missense 3/12 - 1
7-139756694-C-G c.722G>C p.S241T Missense 3/12 - 1
7-139756694-C-T c.722G>A p.S241N Missense 3/12 - 2
7-139756696-G-A c.720C>T p.P240= Synonymous 3/12 - 3
7-139756696-G-C c.720C>G p.P240= Synonymous 3/12 - 2
7-139756696-G-T c.720C>A p.P240= Synonymous 3/12 - 2
7-139756698-G-A c.718C>T p.P240S Missense 3/12 - 2
7-139756698-G-T c.718C>A p.P240T Missense 3/12 - 1
7-139756701-C-T c.715G>A p.A239T Missense 3/12 - 1
7-139756706-C-T c.710G>A p.S237N Missense 3/12 - 1
7-139756720-G-A c.696C>T p.D232= Synonymous 3/12 - 1
7-139756722-C-T c.694G>A p.D232N Missense 3/12 - 5
7-139756725-G-C c.691C>G p.H231D Missense 3/12 - 2
7-139756731-T-C c.685A>G p.N229D Missense 3/12 - 1
7-139756733-C-T c.683G>A p.R228K Missense 3/12 - 1
7-139756738-AA-CC c.677_678delinsGG p.I226R Missense 3/12 - 1
7-139756754-CT-AA c.661_662delinsTT p.S221F Missense 3/12 - 1
7-139756760-A-G c.656T>C p.L219P Missense 3/12 - 3
7-139756762-G-GC c.653_654insG p.D218Efs*11 Frameshift 3/12 - 1
7-139756763-T-C c.653A>G p.D218G Missense 3/12 - 1
7-139756764-C-A c.652G>T p.D218Y Missense 3/12 - 1
7-139756777-C-A c.639G>T p.L213F Missense 3/12 - 1
7-139756777-C-T c.639G>A p.L213= Synonymous 3/12 - 2
7-139756780-C-T c.636G>A p.K212= Synonymous 3/12 - 1
7-139756786-C-A c.630G>T p.L210F Missense 3/12 - 1
7-139756786-C-G c.630G>C p.L210F Missense 3/12 - 1
7-139756788-A-C c.628T>G p.L210V Missense 3/12 - 1
7-139756789-T-C c.627A>G p.K209= Synonymous 3/12 - 1
7-139756794-C-T c.622G>A p.E208K Missense 3/12 - 3
7-139756797-G-A c.619C>T p.L207= Synonymous 3/12 - 2
7-139756805-G-A c.611C>T p.S204F Missense 3/12 - 2
7-139756811-G-A c.605C>T p.S202F Missense 3/12 - 2
7-139756813-G-A c.603C>T p.F201= Synonymous 3/12 - 1
7-139756822-G-A c.594C>T p.S198= Synonymous 3/12 - 3
7-139756826-C-A c.590G>T p.R197I Missense 3/12 - 1
7-139756829-T-C c.587A>G p.K196R Missense 3/12 - 2
7-139756832-C-A c.584G>T p.C195F Missense 3/12 - 1
7-139756833-A-G c.583T>C p.C195R Missense 3/12 - 1
7-139756838-AG-A c.578del p.T193Ifs*23 Frameshift 3/12 - 1
7-139756853-T-G c.563A>C p.E188A Missense 3/12 - 1
7-139756853-TC-T c.562del p.E188Nfs*28 Frameshift 3/12 - 1
7-139756858-C-T c.558G>A p.Q186= Synonymous 3/12 - 1
7-139756862-AA-TG c.553_554delinsCA p.L185Q Missense 3/12 - 1
7-139756872-G-A c.544C>T p.Q182* Nonsense 3/12 - 1
7-139756876-G-A c.540C>T p.I180= Synonymous 3/12 - 1
7-139756876-G-C c.540C>G p.I180M Missense 3/12 - 1
7-139756876-G-T c.540C>A p.I180= Synonymous 3/12 - 1
7-139756881-G-T c.535C>A p.H179N Missense 3/12 - 1
7-139756882-G-A c.534C>T p.L178= Synonymous 3/12 - 3
7-139756885-C-T c.531G>A p.K177= Synonymous 3/12 - 3
7-139756886-T-A c.530A>T p.K177M Missense 3/12 - 1
7-139756887-T-C c.529A>G p.K177E Missense 3/12 - 1
7-139756892-C-T c.524G>A p.C175Y Missense 3/12 - 2
7-139756897-C-A c.519G>T p.K173N Missense 3/12 - 1
7-139756897-C-G c.519G>C p.K173N Missense 3/12 - 1
7-139756902-G-A c.514C>T p.Q172* Nonsense 3/12 - 2
7-139756913-G-A c.503C>T p.S168F Missense 3/12 - 1
7-139756918-G-A c.498C>T p.H166= Synonymous 3/12 - 2
7-139756920-G-A c.496C>T p.H166Y Missense 3/12 - 1
7-139756924-TCC-GCT c.490_492delinsAGC p.G164S Missense 3/12 - 1
7-139756927-A-G c.489T>C p.D163= Synonymous 3/12 - 2
7-139756928-T-C c.488A>G p.D163G Missense 3/12 - 1
7-139756930-TCC-GCT c.484_486delinsAGC p.G162S Missense 3/12 - 1
7-139756931-C-T c.485G>A p.G162E Missense 3/12 - 2
7-139756932-C-G c.484G>C p.G162R Missense 3/12 - 1
7-139756932-C-T c.484G>A p.G162R Missense 3/12 - 1
7-139756937-T-A c.479A>T p.N160I Missense 3/12 - 3
7-139756944-G-GGCACTCTGCTGGGGGCAGAGCTCTTA c.471_472insTAAGAGCTCTGCCCCCAGCAGAGTGC p.H158* Nonsense 3/12 - 1
7-139756947-G-A c.469C>T p.Q157* Nonsense 3/12 - 3
7-139756948-G-C c.468C>G p.C156W Missense 3/12 - 2
7-139756949-C-A c.467G>T p.C156F Missense 3/12 - 2
7-139757008-C-T c.463-55G>A - IntronicSNV - 2/11 1
7-139757136-G-T c.463-183C>A - IntronicSNV - 2/11 5
7-139757701-C-T c.460G>A p.E154K Missense 2/12 - 1
7-139757707-A-C c.454T>G p.L152V Missense 2/12 - 1
7-139757708-A-C c.453T>G p.L151= Synonymous 2/12 - 1
7-139757708-A-G c.453T>C p.L151= Synonymous 2/12 - 1
7-139757708-A-T c.453T>A p.L151= Synonymous 2/12 - 1
7-139757712-C-A c.449G>T p.W150L Missense 2/12 - 12
7-139757719-C-T c.442G>A p.D148N Missense 2/12 - 2
7-139757720-G-T c.441C>A p.N147K Missense 2/12 - 1
7-139757721-T-A c.440A>T p.N147I Missense 2/12 - 1
7-139757725-G-A c.436C>T p.Q146* Nonsense 2/12 - 1
7-139757733-A-C c.428T>G p.L143R Missense 2/12 - 1
7-139757740-A-G c.421T>C p.C141R Missense 2/12 - 1
7-139757743-G-C c.418C>G p.L140V Missense 2/12 - 1
7-139757745-T-G c.416A>C p.E139A Missense 2/12 - 1
7-139757748-T-G c.413A>C p.N138T Missense 2/12 - 1
7-139757751-T-G c.410A>C p.Y137S Missense 2/12 - 1
7-139757764-C-T c.397G>A p.D133N Missense 2/12 - 1
7-139757767-C-T c.394G>A p.V132I Missense 2/12 - 3
7-139757768-G-A c.393C>T p.G131= Synonymous 2/12 - 1
7-139757769-C-T c.392G>A p.G131D Missense 2/12 - 1
7-139757771-A-G c.390T>C p.H130= Synonymous 2/12 - 1
7-139757774-A-G c.387T>C p.T129= Synonymous 2/12 - 1
7-139757777-TCT-ACA c.382_384delinsTGT p.R128C Missense 2/12 - 1
7-139757778-C-G c.383G>C p.R128T Missense 2/12 - 2
7-139757779-T-C c.382A>G p.R128G Missense 2/12 - 1
7-139757783-C-A c.378G>T p.V126= Synonymous 2/12 - 1
7-139757783-CA-GT c.377_378delinsAC p.V126D Missense 2/12 - 1
7-139757785-C-A c.376G>T p.V126L Missense 2/12 - 1
7-139757785-C-G c.376G>C p.V126L Missense 2/12 - 1
7-139757786-A-G c.375T>C p.S125= Synonymous 2/12 - 1
7-139757790-A-G c.371T>C p.L124P Missense 2/12 - 1
7-139757800-C-T c.361G>A p.E121K Missense 2/12 - 2
7-139757801-G-A c.360C>T p.T120= Synonymous 2/12 - 1
7-139757801-G-C c.360C>G p.T120= Synonymous 2/12 - 1
7-139757801-G-T c.360C>A p.T120= Synonymous 2/12 - 1
7-139757802-G-A c.359C>T p.T120I Missense 2/12 - 1
7-139757804-T-G c.357A>C p.T119= Synonymous 2/12 - 1
7-139757805-G-A c.356C>T p.T119I Missense 2/12 - 3
7-139757817-C-A c.344G>T p.S115I Missense 2/12 - 3
7-139757822-CCT-ATG c.337_339delinsCAT p.R113H Missense 2/12 - 1
7-139757831-C-T c.330G>A p.K110= Synonymous 2/12 - 3
7-139757833-T-C c.328A>G p.K110E Missense 2/12 - 1
7-139757911-C-G c.327-77G>C - IntronicSNV - 1/11 2
7-139757911-C-T c.327-77G>A - IntronicSNV - 1/11 2
7-139757980-T-C c.327-146A>G - IntronicSNV - 1/11 1
7-139758053-C-T c.327-219G>A - IntronicSNV - 1/11 2
7-139758896-A-C c.327-1062T>G - IntronicSNV - 1/11 1
7-139761176-T-A c.326+1146A>T - IntronicSNV - 1/11 1
7-139761966-C-A c.326+356G>T - IntronicSNV - 1/11 1
7-139762202-G-A c.326+120C>T - IntronicSNV - 1/11 1
7-139762273-A-G c.326+49T>C - IntronicSNV - 1/11 2
7-139762273-A-T c.326+49T>A - IntronicSNV - 1/11 1
7-139762282-A-G c.326+40T>C - IntronicSNV - 1/11 1
7-139762322-C-A c.326G>T p.G109V Missense 1/12 - 1
7-139762328-C-T c.320G>A p.R107K Missense 1/12 - 1
7-139762339-G-C c.309C>G p.C103W Missense 1/12 - 1
7-139762346-C-A c.302G>T p.G101V Missense 1/12 - 1
7-139762349-T-G c.299A>C p.Y100S Missense 1/12 - 1
7-139762350-A-T c.298T>A p.Y100N Missense 1/12 - 1
7-139762351-G-A c.297C>T p.V99= Synonymous 1/12 - 1
7-139762351-G-C c.297C>G p.V99= Synonymous 1/12 - 1
7-139762362-T-C c.286A>G p.R96G Missense 1/12 - 1
7-139762364-CA-GC c.283_284delinsGC p.C95A Missense 1/12 - 1
7-139762365-A-C c.283T>G p.C95G Missense 1/12 - 1
7-139762374-G-C c.274C>G p.L92V Missense 1/12 - 2
7-139762381-GCA-CTC c.265_267delinsGAG p.C89E Missense 1/12 - 1
7-139762383-A-T c.265T>A p.C89S Missense 1/12 - 1
7-139762388-C-T c.260G>A p.G87E Missense 1/12 - 1
7-139762389-C-T c.259G>A p.G87R Missense 1/12 - 1
7-139762399-C-G c.249G>C p.P83= Synonymous 1/12 - 1
7-139762401-G-T c.247C>A p.P83T Missense 1/12 - 1
7-139762405-G-T c.243C>A p.S81= Synonymous 1/12 - 1
7-139762408-GC-G c.239del p.G80Afs*27 Frameshift 1/12 - 1
7-139762411-C-A c.237G>T p.Q79H Missense 1/12 - 1
7-139762411-C-G c.237G>C p.Q79H Missense 1/12 - 1
7-139762413-G-A c.235C>T p.Q79* Nonsense 1/12 - 1
7-139762413-G-T c.235C>A p.Q79K Missense 1/12 - 1
7-139762417-CG-GT c.230_231delinsAC p.A77D Missense 1/12 - 1
7-139762419-C-T c.229G>A p.A77T Missense 1/12 - 1
7-139762421-C-T c.227G>A p.R76H Missense 1/12 - 1
7-139762422-G-T c.226C>A p.R76S Missense 1/12 - 1
7-139762427-A-G c.221T>C p.L74P Missense 1/12 - 1
7-139762437-G-A c.211C>T p.P71S Missense 1/12 - 1
7-139762439-G-A c.209C>T p.S70L Missense 1/12 - 1
7-139762439-G-C c.209C>G p.S70W Missense 1/12 - 1
7-139762439-G-T c.209C>A p.S70* Nonsense 1/12 - 1
7-139762442-G-A c.206C>T p.A69V Missense 1/12 - 1
7-139762443-C-G c.205G>C p.A69P Missense 1/12 - 1
7-139762449-G-A c.199C>T p.L67= Synonymous 1/12 - 1
7-139762452-C-T c.196G>A p.V66M Missense 1/12 - 1
7-139762457-C-T c.191G>A p.R64H Missense 1/12 - 2
7-139762458-G-A c.190C>T p.R64C Missense 1/12 - 1
7-139762461-C-A c.187G>T p.E63* Nonsense 1/12 - 1
7-139762465-G-A c.183C>T p.A61= Synonymous 1/12 - 1
7-139762465-G-C c.183C>G p.A61= Synonymous 1/12 - 1
7-139762465-G-T c.183C>A p.A61= Synonymous 1/12 - 1
7-139762466-G-A c.182C>T p.A61V Missense 1/12 - 1
7-139762476-C-T c.172G>A p.A58T Missense 1/12 - 3
7-139762484-GC-CT c.163_164delinsAG p.A55R Missense 1/12 - 1
7-139762485-C-T c.163G>A p.A55T Missense 1/12 - 3
7-139762486-CCG-ACA c.160_162delinsTGT p.R54C Missense 1/12 - 1
7-139762489-CAC-AAA c.157_159delinsTTT p.V53F Missense 1/12 - 1
7-139762489-CA-GT c.158_159delinsAC p.V53D Missense 1/12 - 1
7-139762490-A-C c.158T>G p.V53G Missense 1/12 - 1
7-139762491-C-A c.157G>T p.V53L Missense 1/12 - 1
7-139762491-C-G c.157G>C p.V53L Missense 1/12 - 2
7-139762492-C-A c.156G>T p.A52= Synonymous 1/12 - 1
7-139762492-C-G c.156G>C p.A52= Synonymous 1/12 - 1
7-139762492-C-T c.156G>A p.A52= Synonymous 1/12 - 1
7-139762493-G-A c.155C>T p.A52V Missense 1/12 - 1
7-139762526-C-T c.122G>A p.R41Q Missense 1/12 - 1
7-139762528-C-A c.120G>T p.E40D Missense 1/12 - 1
7-139762528-C-G c.120G>C p.E40D Missense 1/12 - 1
7-139762537-G-A c.111C>T p.D37= Synonymous 1/12 - 1
7-139762542-C-T c.106G>A p.A36T Missense 1/12 - 1
7-139762550-C-A c.98G>T p.G33V Missense 1/12 - 2
7-139762552-C-A c.96G>T p.M32I Missense 1/12 - 1
7-139762552-C-G c.96G>C p.M32I Missense 1/12 - 1
7-139762552-C-T c.96G>A p.M32I Missense 1/12 - 1
7-139762559-AA-GG c.88_89delinsCC p.L30P Missense 1/12 - 1
7-139762558-C-T c.90G>A p.L30= Synonymous 1/12 - 1
7-139762560-A-G c.88T>C p.L30= Synonymous 1/12 - 1
7-139762567-C-A c.81G>T p.R27= Synonymous 1/12 - 1
7-139762576-G-AGGA c.72delinsTCCT p.P24dup MultiAAMissense 1/12 - 1
7-139762578-G-C c.70C>G p.P24A Missense 1/12 - 2
7-139762580-AA-TC c.67_68delinsGA p.L23E Missense 1/12 - 1
7-139762589-G-C c.59C>G p.A20G Missense 1/12 - 1
7-139762589-G-T c.59C>A p.A20D Missense 1/12 - 4
7-139762590-C-T c.58G>A p.A20T Missense 1/12 - 1
7-139762593-C-A c.55G>T p.G19C Missense 1/12 - 2
7-139762597-GGC-TTA c.49_51delinsTAA p.A17* Nonsense 1/12 - 2
7-139762597-GGC-TTG c.49_51delinsCAA p.A17Q Missense 1/12 - 2
7-139762598-GC-TA c.49_50delinsTA p.A17Y Missense 1/12 - 2
7-139762601-GC-TA c.46_47delinsTA p.A16* Nonsense 1/12 - 2
7-139762607-A-G c.41T>C p.L14P Missense 1/12 - 1
7-139762619-A-C c.29T>G p.V10G Missense 1/12 - 1
7-139762622-T-C c.26A>G p.E9G Missense 1/12 - 1
7-139762634-C-T c.14G>A p.G5D Missense 1/12 - 1
7-139762643-G-A c.5C>T p.A2V Missense 1/12 - 1
7-139762650-C-T c.-3G>A - 5-UTRSNV 1/12 - 1