C2

C2 complement C2

Annotation transcript: NM_000063.6

182 unique variant annotations were identified in 250 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
6-31895567-T-C c.38T>C p.L13P Missense 1/18 - 1
6-31895573-C-A c.44C>A p.P15Q Missense 1/18 - 1
6-31895575-G-C c.46G>C p.G16R Missense 1/18 - 1
6-31895619-G-T c.46+44G>T - IntronicSNV - 1/17 4
6-31895777-C-T c.92C>T p.S31L Missense 2/18 - 1
6-31895786-C-A c.101C>A p.T34N Missense 2/18 - 1
6-31895786-C-G c.101C>G p.T34S Missense 2/18 - 1
6-31895786-C-T c.101C>T p.T34I Missense 2/18 - 1
6-31895802-T-A c.117T>A p.H39Q Missense 2/18 - 1
6-31895802-T-C c.117T>C p.H39= Synonymous 2/18 - 1
6-31895806-T-A c.121T>A p.W41R Missense 2/18 - 1
6-31895834-C-T c.149C>T p.S50F Missense 2/18 - 1
6-31895845-G-A c.160G>A p.G54S Missense 2/18 - 1
6-31895858-C-T c.173C>T p.S58F Missense 2/18 - 1
6-31895869-C-T c.184C>T p.R62W Missense 2/18 - 1
6-31895870-G-A c.185G>A p.R62Q Missense 2/18 - 1
6-31895870-G-T c.185G>T p.R62L Missense 2/18 - 1
6-31895903-C-T c.218C>T p.P73L Missense 2/18 - 1
6-31895914-C-T c.229C>T p.R77W Missense 2/18 - 2
6-31895917-T-C c.232T>C p.S78P Missense 2/18 - 1
6-31895931-G-A c.246G>A p.A82= Synonymous 2/18 - 1
6-31895931-G-C c.246G>C p.A82= Synonymous 2/18 - 1
6-31895941-C-T c.256C>T p.P86S Missense 2/18 - 1
6-31895973-C-G c.256+32C>G - IntronicSNV - 2/17 20
6-31896112-G-A c.256+171G>A - IntronicSNV - 2/17 1
6-31896468-C-T c.257-41C>T - IntronicSNV - 2/17 1
6-31896535-T-G c.283T>G p.F95V Missense 3/18 - 1
6-31896548-T-G c.296T>G p.I99S Missense 3/18 - 1
6-31896559-C-T c.307C>T p.R103W Missense 3/18 - 2
6-31896566-G-T c.314G>T p.G105V Missense 3/18 - 1
6-31896595-T-C c.343T>C p.F115L Missense 3/18 - 1
6-31896601-T-C c.349T>C p.C117R Missense 3/18 - 1
6-31896623-G-A c.371G>A p.R124Q Missense 3/18 - 1
6-31896637-C-G c.385C>G p.R129G Missense 3/18 - 1
6-31896637-C-T c.385C>T p.R129C Missense 3/18 - 1
6-31896638-G-A c.386G>A p.R129H Missense 3/18 - 1
6-31896646-C-T c.394C>T p.R132C Missense 3/18 - 1
6-31896647-G-A c.395G>A p.R132H Missense 3/18 - 1
6-31896692-G-A c.440G>A p.G147E Missense 3/18 - 1
6-31897219-G-A c.442+525G>A - IntronicSNV - 3/17 2
6-31900754-G-A c.443-633G>A - IntronicSNV - 3/17 1
6-31900754-G-C c.443-633G>C - IntronicSNV - 3/17 1
6-31900754-G-T c.443-633G>T - IntronicSNV - 3/17 1
6-31901422-G-A c.478G>A p.A160T Missense 4/18 - 1
6-31901422-G-T c.478G>T p.A160S Missense 4/18 - 1
6-31901464-C-T c.520C>T p.R174C Missense 4/18 - 1
6-31901470-C-G c.526C>G p.R176G Missense 4/18 - 1
6-31901470-C-T c.526C>T p.R176C Missense 4/18 - 1
6-31901480-C-T c.536C>T p.S179L Missense 4/18 - 1
6-31901495-C-T c.551C>T p.T184M Missense 4/18 - 2
6-31901504-C-T c.560C>T p.S187L Missense 4/18 - 1
6-31901509-C-T c.565C>T p.R189W Missense 4/18 - 1
6-31901521-G-A c.577G>A p.G193S Missense 4/18 - 1
6-31901527-G-A c.583G>A p.G195R Missense 4/18 - 1
6-31901527-G-C c.583G>C p.G195R Missense 4/18 - 1
6-31901528-G-A c.584G>A p.G195E Missense 4/18 - 1
6-31901530-G-A c.586G>A p.V196I Missense 4/18 - 1
6-31901536-A-C c.592A>C p.S198R Missense 4/18 - 1
6-31901538-T-G c.594T>G p.S198R Missense 4/18 - 1
6-31901543-C-T c.599C>T p.T200M Missense 4/18 - 2
6-31901557-C-T c.613C>T p.R205C Missense 4/18 - 1
6-31901558-G-A c.614G>A p.R205H Missense 4/18 - 1
6-31901653-C-G c.626C>G p.S209C Missense 5/18 - 2
6-31901653-C-T c.626C>T p.S209F Missense 5/18 - 2
6-31901691-A-G c.664A>G p.T222A Missense 5/18 - 1
6-31901692-C-T c.665C>T p.T222I Missense 5/18 - 1
6-31901700-T-G c.673T>G p.S225A Missense 5/18 - 1
6-31901703-C-G c.676C>G p.H226D Missense 5/18 - 1
6-31901730-C-A c.703C>A p.Q235K Missense 5/18 - 1
6-31901731-A-G c.704A>G p.Q235R Missense 5/18 - 1
6-31901773-G-A c.715+31G>A - IntronicSNV - 5/17 2
6-31901895-G-A c.716-48G>A - IntronicSNV - 5/17 1
6-31901895-G-C c.716-48G>C - IntronicSNV - 5/17 1
6-31901954-C-A c.727C>A p.R243S Missense 6/18 - 1
6-31901954-C-T c.727C>T p.R243C Missense 6/18 - 1
6-31901972-C-A c.745C>A p.R249S Missense 6/18 - 2
6-31901972-C-T c.745C>T p.R249C Missense 6/18 - 2
6-31901976-C-G c.749C>G p.S250C Missense 6/18 - 2
6-31902289-C-G c.849+213C>G - IntronicSNV - 6/17 3
6-31902289-C-T c.849+213C>T - IntronicSNV - 6/17 3
6-31902377-C-A c.849+301C>A - IntronicSNV - 6/17 1
6-31902377-C-T c.849+301C>T - IntronicSNV - 6/17 1
6-31903121-G-A c.850-579G>A - IntronicSNV - 6/17 3
6-31903779-A-G c.929A>G p.N310S Missense 7/18 - 2
6-31903780-C-T c.930C>T p.N310= Synonymous 7/18 - 1
6-31903786-C-G c.936C>G p.N312K Missense 7/18 - 1
6-31903804-G-A c.954G>A p.E318= Synonymous 7/18 - 113
6-31903804-G-C c.954G>C p.E318D Missense 7/18 - 113
6-31905121-C-A c.1014C>A p.N338K Missense 8/18 - 1
6-31905129-C-T c.1022C>T p.A341V Missense 8/18 - 1
6-31905130-G-A c.1023G>A p.A341= Synonymous 8/18 - 16
6-31905171-G-A c.1064G>A p.R355Q Missense 8/18 - 2
6-31905171-G-T c.1064G>T p.R355L Missense 8/18 - 2
6-31905180-G-A c.1073G>A p.G358D Missense 8/18 - 1
6-31905194-G-A c.1087G>A p.A363T Missense 8/18 - 1
6-31905203-G-A c.1096G>A p.E366K Missense 8/18 - 2
6-31905210-G-A c.1103G>A p.R368Q Missense 8/18 - 1
6-31905210-G-C c.1103G>C p.R368P Missense 8/18 - 1
6-31905222-T-A c.1115T>A p.I372N Missense 8/18 - 1
6-31905222-T-C c.1115T>C p.I372T Missense 8/18 - 1
6-31905231-C-T c.1124C>T p.T375I Missense 8/18 - 1
6-31905328-G-T c.1129+92G>T - IntronicSNV - 8/17 2
6-31906010-G-A c.1129+774G>A - IntronicSNV - 8/17 3
6-31906334-T-A c.1130-674T>A - IntronicSNV - 8/17 1
6-31906828-G-A c.1130-180G>A - IntronicSNV - 8/17 1
6-31906865-C-T c.1130-143C>T - IntronicSNV - 8/17 1
6-31907062-T-C c.1184T>C p.I395T Missense 9/18 - 1
6-31907065-T-C c.1187T>C p.L396P Missense 9/18 - 1
6-31907084-G-T c.1206G>T p.R402S Missense 9/18 - 1
6-31907095-T-G c.1217T>G p.L406R Missense 9/18 - 1
6-31907147-T-C c.1219+50T>C - IntronicSNV - 9/17 8
6-31907168-C-T c.1219+71C>T - IntronicSNV - 9/17 2
6-31907365-C-T c.1219+268C>T - IntronicSNV - 9/17 1
6-31907837-G-A c.1219+740G>A - IntronicSNV - 9/17 2
6-31907837-G-C c.1219+740G>C - IntronicSNV - 9/17 2
6-31908224-C-T c.1219+1127C>T - IntronicSNV - 9/17 5
6-31908470-C-T c.1219+1373C>T - IntronicSNV - 9/17 1
6-31908761-T-C c.1219+1664T>C - IntronicSNV - 9/17 3
6-31909132-C-T c.1220-1604C>T - IntronicSNV - 9/17 1
6-31910162-G-A c.1220-574G>A - IntronicSNV - 9/17 2
6-31910456-G-A c.1220-280G>A - IntronicSNV - 9/17 1
6-31910456-G-T c.1220-280G>T - IntronicSNV - 9/17 1
6-31910750-G-A c.1234G>A p.G412R Missense 10/18 - 1
6-31910778-G-A c.1262G>A p.R421K Missense 10/18 - 1
6-31910802-A-C c.1286A>C p.K429T Missense 10/18 - 1
6-31910802-A-G c.1286A>G p.K429R Missense 10/18 - 1
6-31910810-G-A c.1294G>A p.G432S Missense 10/18 - 1
6-31910929-G-A c.1360+53G>A - IntronicSNV - 10/17 3
6-31910938-G-T c.1360+62G>T - IntronicSNV - 10/17 60
6-31911005-T-C c.1364T>C p.V455A Missense 11/18 - 1
6-31911029-G-T c.1388G>T p.C463F Missense 11/18 - 1
6-31911055-G-A c.1414G>A p.A472T Missense 11/18 - 1
6-31911055-G-T c.1414G>T p.A472S Missense 11/18 - 1
6-31911068-A-T c.1427A>T p.E476V Missense 11/18 - 1
6-31911091-A-G c.1450A>G p.I484V Missense 11/18 - 1
6-31911197-A-G c.1460A>G p.K487R Missense 12/18 - 1
6-31911232-G-A c.1495G>A p.D499N Missense 12/18 - 1
6-31911232-G-C c.1495G>C p.D499H Missense 12/18 - 1
6-31911257-A-C c.1520A>C p.H507P Missense 12/18 - 1
6-31911301-G-A c.1564G>A p.V522M Missense 12/18 - 1
6-31911425-C-A c.1572C>A p.D524E Missense 13/18 - 1
6-31911430-A-G c.1577A>G p.K526R Missense 13/18 - 1
6-31911430-A-T c.1577A>T p.K526I Missense 13/18 - 1
6-31911441-G-A c.1588G>A p.G530S Missense 13/18 - 1
6-31911448-A-G c.1595A>G p.E532G Missense 13/18 - 1
6-31911448-A-T c.1595A>T p.E532V Missense 13/18 - 1
6-31911452-C-G c.1599C>G p.F533L Missense 13/18 - 2
6-31911467-G-A c.1614G>A p.A538= Synonymous 13/18 - 2
6-31911475-C-T c.1622C>T p.S541F Missense 13/18 - 3
6-31911481-G-T c.1628G>T p.G543V Missense 13/18 - 1
6-31911519-G-A c.1666G>A p.E556K Missense 13/18 - 1
6-31911520-A-C c.1667A>C p.E556A Missense 13/18 - 1
6-31911583-C-T c.1730C>T p.A577V Missense 13/18 - 1
6-31911708-C-G c.1748C>G p.P583R Missense 14/18 - 1
6-31911956-G-A c.1855G>A p.A619T Missense 15/18 - 1
6-31911980-A-G c.1879A>G p.I627V Missense 15/18 - 1
6-31912001-G-A c.1900G>A p.E634K Missense 15/18 - 1
6-31912009-G-C c.1902+6G>C - IntronicSNV - 15/17 7
6-31912392-A-C c.1903-112A>C - IntronicSNV - 15/17 1
6-31912508-C-G c.1907C>G p.T636R Missense 16/18 - 1
6-31912512-C-G c.1911C>G p.S637R Missense 16/18 - 1
6-31912519-G-A c.1918G>A p.E640K Missense 16/18 - 1
6-31912523-T-C c.1922T>C p.V641A Missense 16/18 - 9
6-31912525-G-T c.1924G>T p.V642F Missense 16/18 - 1
6-31912537-A-G c.1936A>G p.K646E Missense 16/18 - 1
6-31912543-A-G c.1942A>G p.M648V Missense 16/18 - 1
6-31912561-G-C c.1960G>C p.D654H Missense 16/18 - 1
6-31912567-A-G c.1966A>G p.R656G Missense 16/18 - 1
6-31912596-C-T c.1995C>T p.C665= Synonymous 16/18 - 1
6-31912609-G-A c.2008G>A p.E670K Missense 16/18 - 1
6-31912630-G-A c.2029G>A p.G677R Missense 16/18 - 1
6-31912773-A-G c.2046A>G p.A682= Synonymous 17/18 - 1
6-31912858-T-C c.2079+52T>C - IntronicSNV - 17/17 1
6-31913015-C-T c.2140C>T p.R714C Missense 18/18 - 1
6-31913030-C-T c.2155C>T p.R719C Missense 18/18 - 1
6-31913046-C-T c.2171C>T p.P724L Missense 18/18 - 2
6-31913075-C-T c.2200C>T p.R734C Missense 18/18 - 8
6-31913076-G-A c.2201G>A p.R734H Missense 18/18 - 2
6-31913076-G-T c.2201G>T p.R734L Missense 18/18 - 2
6-31913078-A-G c.2203A>G p.M735V Missense 18/18 - 1
6-31913078-A-T c.2203A>T p.M735L Missense 18/18 - 1
6-31913118-A-AT c.2249dup p.L750Ffs*39 Frameshift 18/18 - 1