MTHFR methylenetetrahydrofolate reductase

Annotation transcript: NM_005957.5

413 unique variant annotations were identified in 762 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
1-11849667-C-T c.*1070G>A - 3-UTRSNV 12/12 - 1
1-11850083-T-C c.*654A>G - 3-UTRSNV 12/12 - 1
1-11850153-G-A c.*584C>T - 3-UTRSNV 12/12 - 1
1-11850365-T-A c.*372A>T - 3-UTRSNV 12/12 - 36
1-11850365-T-G c.*372A>C - 3-UTRSNV 12/12 - 36
1-11850434-C-T c.*303G>A - 3-UTRSNV 12/12 - 3
1-11850696-G-A c.*41C>T - 3-UTRSNV 12/12 - 2
1-11850738-C-G c.1970G>C p.*657Sext*50 Missense 12/12 - 4
1-11850739-A-G c.1969T>C p.*657Rext*50 Missense 12/12 - 1
1-11850750-G-A c.1958C>T p.T653M Missense 12/12 - 4
1-11850803-C-T c.1905G>A p.V635= Synonymous 12/12 - 2
1-11850825-A-G c.1883T>C p.L628P Missense 12/12 - 2
1-11850825-AG-GT c.1882_1883delinsAC p.L628T Missense 12/12 - 1
1-11850862-A-C c.1846T>G p.Y616D Missense 12/12 - 1
1-11850867-T-C c.1841A>G p.D614G Missense 12/12 - 2
1-11850885-A-ATGTAC c.1822_1823insGTACA p.I608Sfs*56 Frameshift 12/12 - 1
1-11850892-G-A c.1816C>T p.R606C Missense 12/12 - 1
1-11850900-G-A c.1808C>T p.S603F Missense 12/12 - 1
1-11850900-G-C c.1808C>G p.S603C Missense 12/12 - 1
1-11850900-GGACTCCTCCTCA-G c.1797_1808del p.E600_S603del InFrameDeletion 12/12 - 1
1-11850904-C-T c.1804G>A p.E602K Missense 12/12 - 1
1-11850915-A-G c.1793T>C p.L598P Missense 12/12 - 3
1-11850927-C-T c.1781G>A p.R594Q Missense 12/12 - 95
1-11850928-CG-C c.1780del p.R594Gfs*68 Frameshift 12/12 - 1
1-11850928-GCT-G c.1778_1779del p.E593Afs*7 Frameshift 12/12 - 1
1-11850939-AG-A c.1768del p.L590Cfs*72 Frameshift 12/12 - 1
1-11850950-C-A c.1758G>T p.E586D Missense 12/12 - 1
1-11850950-C-T c.1758G>A p.E586= Synonymous 12/12 - 1
1-11850952-C-T c.1756G>A p.E586K Missense 12/12 - 1
1-11850973-C-T c.1753-18G>A - IntronicSNV - 11/11 1
1-11850981-C-T c.1753-26G>A - IntronicSNV - 11/11 1
1-11851003-G-C c.1753-48C>G - IntronicSNV - 11/11 6
1-11851185-C-T c.1752+79G>A - IntronicSNV - 11/11 2
1-11851263-C-A c.1752+1G>T - IntronicSNV - 11/11 1
1-11851266-T-A c.1750A>T p.K584* Nonsense 11/12 - 1
1-11851273-C-T c.1743G>A p.M581I Missense 11/12 - 2
1-11851292-A-C c.1724T>G p.V575G Missense 11/12 - 3
1-11851295-A-C c.1721T>G p.V574G Missense 11/12 - 1
1-11851298-GT-CA c.1717_1718delinsTG p.T573C Missense 11/12 - 1
1-11851301-G-A c.1715C>T p.P572L Missense 11/12 - 4
1-11851317-G-A c.1699C>T p.R567* Nonsense 11/12 - 2
1-11851319-C-T c.1697G>A p.G566E Missense 11/12 - 2
1-11851333-C-T c.1683G>A p.W561* Nonsense 11/12 - 2
1-11851350-G-C c.1666C>G p.P556A Missense 11/12 - 1
1-11851354-CAG-AAA c.1660_1662delinsTTT p.L554F Missense 11/12 - 6
1-11851370-GT-TC c.1645_1646delinsGA p.T549D Missense 11/12 - 1
1-11851371-T-C c.1645A>G p.T549A Missense 11/12 - 1
1-11851375-G-A c.1641C>T p.N547= Synonymous 11/12 - 1
1-11852110-C-T c.1632+225G>A - IntronicSNV - 10/11 2
1-11852300-C-G c.1632+35G>C - IntronicSNV - 10/11 32
1-11852300-C-T c.1632+35G>A - IntronicSNV - 10/11 32
1-11852333-A-C c.1632+2T>G - IntronicSNV - 10/11 1
1-11852333-A-G c.1632+2T>C - IntronicSNV - 10/11 1
1-11852336-T-C c.1631A>G p.K544R Missense 10/12 - 1
1-11852342-T-C c.1625A>G p.N542S Missense 10/12 - 1
1-11852342-T-G c.1625A>C p.N542T Missense 10/12 - 2
1-11852361-C-A c.1606G>T p.V536F Missense 10/12 - 2
1-11852363-C-G c.1604G>C p.R535P Missense 10/12 - 1
1-11852363-C-T c.1604G>A p.R535Q Missense 10/12 - 2
1-11852364-G-A c.1603C>T p.R535W Missense 10/12 - 3
1-11852371-G-C c.1596C>G p.Y532* Nonsense 10/12 - 1
1-11852374-AC-A c.1593del p.K531Nfs*13 Frameshift 10/12 - 1
1-11852378-T-C c.1589A>G p.K530R Missense 10/12 - 1
1-11852404-TGT-ACA c.1561_1563inv p.T521C Missense 10/12 - 6
1-11852411-C-A c.1556G>T p.R519L Missense 10/12 - 1
1-11852411-C-T c.1556G>A p.R519H Missense 10/12 - 1
1-11852412-G-A c.1555C>T p.R519C Missense 10/12 - 4
1-11852417-G-A c.1550C>T p.T517I Missense 10/12 - 1
1-11852425-C-T c.1542G>A p.E514= Synonymous 10/12 - 1
1-11852424-ACT-A c.1541_1542del p.E514Vfs*23 Frameshift 10/12 - 1
1-11852427-C-CT c.1539dup p.E514Rfs*24 Frameshift 10/12 - 2
1-11852429-A-G c.1538T>C p.L513S Missense 10/12 - 1
1-11852432-T-C c.1535A>G p.Y512C Missense 10/12 - 3
1-11852432-T-TCC c.1534_1535insGG p.Y512Wfs*3 Frameshift 10/12 - 1
1-11852516-C-T c.1531-80G>A - IntronicSNV - 9/11 4
1-11853962-A-G c.1530+2T>C - IntronicSNV - 9/11 1
1-11853964-C-T c.1530G>A p.K510= Synonymous 9/12 - 6
1-11853965-T-G c.1529A>C p.K510T Missense 9/12 - 1
1-11853966-TTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTC-T c.1470_1528del p.K491Gfs*27 InFrameDeletion 9/12 - 1
1-11853978-A-C c.1516T>G p.Y506D Missense 9/12 - 3
1-11853984-C-T c.1510G>A p.G504R Missense 9/12 - 1
1-11853993-C-A c.1501G>T p.G501C Missense 9/12 - 1
1-11854009-G-C c.1485C>G p.D495E Missense 9/12 - 1
1-11854009-G-T c.1485C>A p.D495E Missense 9/12 - 1
1-11854042-T-A c.1452A>T p.S484= Synonymous 9/12 - 1
1-11854042-T-C c.1452A>G p.S484= Synonymous 9/12 - 1
1-11854042-T-G c.1452A>C p.S484= Synonymous 9/12 - 1
1-11854052-G-T c.1442C>A p.T481N Missense 9/12 - 1
1-11854074-C-A c.1420G>T p.V474L Missense 9/12 - 1
1-11854076-C-A c.1418G>T p.R473L Missense 9/12 - 1
1-11854076-C-T c.1418G>A p.R473Q Missense 9/12 - 1
1-11854077-G-A c.1417C>T p.R473W Missense 9/12 - 1
1-11854085-T-A c.1409A>T p.E470V Missense 9/12 - 2
1-11854085-T-C c.1409A>G p.E470G Missense 9/12 - 2
1-11854085-TC-AG c.1408_1409delinsCT p.E470L Missense 9/12 - 1
1-11854085-T-G c.1409A>C p.E470A Missense 9/12 - 3
1-11854086-C-A c.1408G>T p.E470* Nonsense 9/12 - 4
1-11854086-C-G c.1408G>C p.E470Q Missense 9/12 - 1
1-11854089-C-T c.1405G>A p.E469K Missense 9/12 - 5
1-11854100-C-A c.1394G>T p.S465I Missense 9/12 - 1
1-11854105-C-A c.1389G>T p.E463D Missense 9/12 - 2
1-11854105-C-G c.1389G>C p.E463D Missense 9/12 - 2
1-11854105-CTC-GTT c.1387_1389delinsAAC p.E463N Missense 9/12 - 1
1-11854107-C-G c.1387G>C p.E463Q Missense 9/12 - 2
1-11854111-C-T c.1383G>A p.A461= Synonymous 9/12 - 1
1-11854113-C-A c.1381G>T p.A461S Missense 9/12 - 1
1-11854124-T-A c.1370A>T p.D457V Missense 9/12 - 1
1-11854130-C-A c.1364G>T p.W455L Missense 9/12 - 1
1-11854139-C-A c.1355G>T p.C452F Missense 9/12 - 1
1-11854139-CA-GT c.1354_1355delinsAC p.C452T Missense 9/12 - 5
1-11854414-C-T c.1347+1G>A - IntronicSNV - 8/11 1
1-11854442-C-A c.1320G>T p.S440= Synonymous 8/12 - 1
1-11854442-C-G c.1320G>C p.S440= Synonymous 8/12 - 1
1-11854442-C-T c.1320G>A p.S440= Synonymous 8/12 - 1
1-11854443-G-A c.1319C>T p.S440L Missense 8/12 - 3
1-11854445-GAG-TTA c.1315_1317delinsTAA p.L439* Nonsense 8/12 - 1
1-11854446-A-G c.1316T>C p.L439P Missense 8/12 - 1
1-11854446-AG-CA c.1315_1316delinsTG p.L439C Missense 8/12 - 1
1-11854457-G-A c.1305C>T p.F435= Synonymous 8/12 - 12
1-11854458-A-G c.1304T>C p.F435S Missense 8/12 - 1
1-11854464-T-G c.1298A>C p.E433A Missense 8/12 - 63
1-11854473-C-A c.1289G>T p.S430I Missense 8/12 - 1
1-11854476-T-A c.1286A>T p.E429V Missense 8/12 - 2
1-11854476-T-C c.1286A>G p.E429G Missense 8/12 - 1
1-11854476-T-G c.1286A>C p.E429A Missense 8/12 - 801
1-11854479-T-G c.1283A>C p.E428A Missense 8/12 - 1
1-11854498-C-G c.1264G>C p.G422R Missense 8/12 - 2
1-11854498-C-T c.1264G>A p.G422R Missense 8/12 - 2
1-11854494-T-TC c.1267dup p.E423Gfs*6 Frameshift 8/12 - 1
1-11854500-C-CTG c.1261_1262insCA p.W421Sfs*6 Frameshift 8/12 - 1
1-11854500-C-G c.1262G>C p.W421S Missense 8/12 - 3
1-11854503-A-G c.1259T>C p.M420T Missense 8/12 - 1
1-11854526-G-A c.1236C>T p.S412= Synonymous 8/12 - 2
1-11854558-C-G c.1204G>C p.D402H Missense 8/12 - 1
1-11854568-CCC-ACA c.1192_1194delinsTGT p.G398C Missense 8/12 - 1
1-11854569-C-G c.1193G>C p.G398A Missense 8/12 - 1
1-11854594-C-G c.1168G>C p.G390R Missense 8/12 - 1
1-11854671-C-A c.1167-76G>T - IntronicSNV - 7/11 9
1-11854755-G-A c.1166+31C>T - IntronicSNV - 7/11 5
1-11854785-C-T c.1166+1G>A - IntronicSNV - 7/11 1
1-11854786-C-T c.1166G>A p.W389* Nonsense 7/12 - 3
1-11854790-G-A c.1162C>T p.R388C Missense 7/12 - 1
1-11854792-C-T c.1160G>A p.G387D Missense 7/12 - 2
1-11854796-T-TAGACA c.1155_1156insTGTCT p.N386Cfs*17 Frameshift 7/12 - 1
1-11854800-GAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCC-G c.1100_1151del p.W367Sfs*17 Frameshift 7/12 - 1
1-11854810-C-T c.1142G>A p.W381* Nonsense 7/12 - 1
1-11854811-A-G c.1141T>C p.W381R Missense 7/12 - 3
1-11854811-A-T c.1141T>A p.W381R Missense 7/12 - 2
1-11854822-C-T c.1130G>A p.R377H Missense 7/12 - 5
1-11854823-G-A c.1129C>T p.R377C Missense 7/12 - 4
1-11854830-G-C c.1122C>G p.Y374* Nonsense 7/12 - 1
1-11854838-T-C c.1114A>G p.K372E Missense 7/12 - 3
1-11854836-CT-C c.1115del p.K372Rfs*29 Frameshift 7/12 - 1
1-11854849-G-C c.1103C>G p.A368G Missense 7/12 - 2
1-11854849-GC-AG c.1102_1103delinsCT p.A368L Missense 7/12 - 2
1-11854849-G-T c.1103C>A p.A368D Missense 7/12 - 1
1-11854862-G-A c.1090C>T p.P364S Missense 7/12 - 1
1-11854864-C-T c.1088G>A p.R363H Missense 7/12 - 3
1-11854865-G-A c.1087C>T p.R363C Missense 7/12 - 1
1-11854866-TAC-AAA c.1084_1086delinsTTT p.V362F Missense 7/12 - 1
1-11854880-G-A c.1072C>T p.R358* Nonsense 7/12 - 2
1-11854882-C-T c.1070G>A p.R357H Missense 7/12 - 2
1-11854883-G-A c.1069C>T p.R357C Missense 7/12 - 2
1-11854892-G-A c.1060C>T p.H354Y Missense 7/12 - 3
1-11854894-G-A c.1058C>T p.A353V Missense 7/12 - 1
1-11854896-G-A c.1056C>T p.S352= Synonymous 7/12 - 11
1-11854910-G-A c.1042C>T p.P348S Missense 7/12 - 2
1-11854913-G-A c.1039C>T p.L347= Synonymous 7/12 - 1
1-11854919-G-A c.1033C>T p.R345C Missense 7/12 - 2
1-11855155-C-A c.1031G>T p.R344M Missense 6/12 - 1
1-11855171-A-C c.1015T>G p.W339G Missense 6/12 - 4
1-11855173-A-G c.1013T>C p.M338T Missense 6/12 - 3
1-11855182-C-T c.1004G>A p.R335H Missense 6/12 - 3
1-11855183-G-A c.1003C>T p.R335C Missense 6/12 - 3
1-11855188-A-G c.998T>C p.L333P Missense 6/12 - 2
1-11855189-G-A c.997C>T p.L333= Synonymous 6/12 - 1
1-11855191-A-G c.995T>C p.V332A Missense 6/12 - 1
1-11855200-G-A c.986C>T p.T329I Missense 6/12 - 1
1-11855201-T-A c.985A>T p.T329S Missense 6/12 - 1
1-11855213-G-A c.973C>T p.R325C Missense 6/12 - 4
1-11855215-T-C c.971A>G p.N324S Missense 6/12 - 3
1-11855218-A-G c.968T>C p.L323P Missense 6/12 - 1
1-11855219-G-A c.967C>T p.L323F Missense 6/12 - 2
1-11855231-G-A c.955C>T p.H319Y Missense 6/12 - 1
1-11855259-AA-TT c.926_927inv p.L309Q Missense 6/12 - 1
1-11855260-AG-GC c.925_926delinsGC p.L309A Missense 6/12 - 1
1-11855270-A-G c.916T>C p.C306R Missense 6/12 - 1
1-11855279-C-T c.907G>A p.V303M Missense 6/12 - 1
1-11855293-CC-GT c.892_893delinsAC p.G298T Missense 6/12 - 2
1-11855293-C-G c.893G>C p.G298A Missense 6/12 - 1
1-11855295-A-T c.891T>A p.Y297* Nonsense 6/12 - 1
1-11855315-C-T c.871G>A p.D291N Missense 6/12 - 2
1-11855316-G-A c.870C>T p.N290= Synonymous 6/12 - 1
1-11855326-A-G c.860T>C p.I287T Missense 6/12 - 1
1-11855333-C-G c.853G>C p.E285Q Missense 6/12 - 1
1-11855333-C-T c.853G>A p.E285K Missense 6/12 - 1
1-11855389-C-T c.797G>A p.R266Q Missense 6/12 - 1
1-11855398-T-G c.788A>C p.H263P Missense 6/12 - 1
1-11855405-C-A c.781G>T p.G261C Missense 6/12 - 1
1-11855867-G-A c.780+396C>T - IntronicSNV - 5/11 6
1-11856262-C-A c.780+1G>T - IntronicSNV - 5/11 1
1-11856274-A-C c.769T>G p.F257V Missense 5/12 - 2
1-11856276-A-T c.767T>A p.I256N Missense 5/12 - 3
1-11856279-C-A c.764G>T p.G255V Missense 5/12 - 2
1-11856283-G-A c.760C>T p.P254S Missense 5/12 - 2
1-11856285-A-C c.758T>G p.V253G Missense 5/12 - 1
1-11856286-C-A c.757G>T p.V253F Missense 5/12 - 2
1-11856286-C-T c.757G>A p.V253I Missense 5/12 - 1
1-11856291-G-A c.752C>T p.P251L Missense 5/12 - 1
1-11856298-T-C c.745A>G p.T249A Missense 5/12 - 1
1-11856301-T-C c.742A>G p.I248V Missense 5/12 - 1
1-11856331-G-A c.712C>T p.R238C Missense 5/12 - 1
1-11856338-T-A c.705A>T p.T235= Synonymous 5/12 - 1
1-11856338-T-C c.705A>G p.T235= Synonymous 5/12 - 1
1-11856338-T-G c.705A>C p.T235= Synonymous 5/12 - 1
1-11856338-TG-CA c.704_705inv p.T235M Missense 5/12 - 1
1-11856343-C-A c.700G>T p.D234Y Missense 5/12 - 1
1-11856343-C-T c.700G>A p.D234N Missense 5/12 - 3
1-11856345-G-C c.698C>G p.A233G Missense 5/12 - 2
1-11856362-C-T c.681G>A p.T227= Synonymous 5/12 - 1
1-11856363-G-A c.680C>T p.T227M Missense 5/12 - 4
1-11856366-A-G c.677T>C p.I226T Missense 5/12 - 1
1-11856363-GTGA-G c.677_679del p.I226del InFrameDeletion 5/12 - 1
1-11856370-T-G c.673A>C p.I225L Missense 5/12 - 2
1-11856376-C-G c.667G>C p.D223H Missense 5/12 - 1
1-11856376-C-T c.667G>A p.D223N Missense 5/12 - 7
1-11856377-G-A c.666C>T p.A222= Synonymous 5/12 - 2
1-11856377-G-C c.666C>G p.A222= Synonymous 5/12 - 2
1-11856377-G-T c.666C>A p.A222= Synonymous 5/12 - 2
1-11856378-G-A c.665C>T p.A222V Missense 5/12 - 1461
1-11856378-G-T c.665C>A p.A222D Missense 5/12 - 1
1-11856382-C-T c.661G>A p.G221R Missense 5/12 - 1
1-11856380-TC-T c.662del p.G221Efs*20 Frameshift 5/12 - 2
1-11856386-CAGA-C c.655_657del p.S219del InFrameDeletion 5/12 - 1
1-11856387-GA-CC c.655_656delinsGG p.S219G Missense 5/12 - 1
1-11856391-C-A c.652G>T p.V218L Missense 5/12 - 1
1-11856391-C-G c.652G>C p.V218L Missense 5/12 - 1
1-11856397-CCTT-C c.643_645del p.K215del InFrameDeletion 5/12 - 2
1-11856404-G-GT c.638dup p.H213Qfs*20 Frameshift 5/12 - 1
1-11856405-T-C c.638A>G p.H213R Missense 5/12 - 1
1-11856417-G-C c.626C>G p.A209G Missense 5/12 - 1
1-11856419-CCTCAAAGCTCCCTGCTTCGGG-C c.604_624del p.P202_E208del InFrameDeletion 5/12 - 1
1-11856427-T-G c.616A>C p.S206R Missense 5/12 - 1
1-11856429-C-T c.614G>A p.G205E Missense 5/12 - 1
1-11856430-C-T c.613G>A p.G205R Missense 5/12 - 1
1-11856437-G-A c.606C>T p.P202= Synonymous 5/12 - 1
1-11856439-G-T c.604C>A p.P202T Missense 5/12 - 2
1-11856442-G-A c.601C>T p.H201Y Missense 5/12 - 2
1-11856445-C-T c.598G>A p.G200S Missense 5/12 - 1
1-11856450-G-A c.593C>T p.P198L Missense 5/12 - 5
1-11856456-C-G c.587G>C p.G196A Missense 5/12 - 6
1-11856456-C-T c.587G>A p.G196D Missense 5/12 - 2
1-11856847-G-A c.587-391C>T - IntronicSNV - 4/11 2
1-11857240-C-A c.587-784G>T - IntronicSNV - 4/11 1
1-11857240-C-G c.587-784G>C - IntronicSNV - 4/11 1
1-11857240-C-T c.587-784G>A - IntronicSNV - 4/11 1
1-11857525-A-T c.587-1069T>A - IntronicSNV - 4/11 1
1-11857526-A-G c.587-1070T>C - IntronicSNV - 4/11 1
1-11857526-A-T c.587-1070T>A - IntronicSNV - 4/11 1
1-11857711-T-C c.587-1255A>G - IntronicSNV - 4/11 2
1-11857788-G-A c.587-1332C>T - IntronicSNV - 4/11 12
1-11857951-T-A c.587-1495A>T - IntronicSNV - 4/11 10
1-11857951-T-C c.587-1495A>G - IntronicSNV - 4/11 10
1-11858036-A-G c.587-1580T>C - IntronicSNV - 4/11 1
1-11858584-T-C c.586+1685A>G - IntronicSNV - 4/11 1
1-11860117-A-G c.586+152T>C - IntronicSNV - 4/11 2
1-11860120-T-C c.586+149A>G - IntronicSNV - 4/11 12
1-11860234-T-C c.586+35A>G - IntronicSNV - 4/11 1
1-11860269-C-T c.586G>A p.G196S Missense 4/12 - 1
1-11860271-G-A c.584C>T p.A195V Missense 4/12 - 3
1-11860277-C-T c.578G>A p.C193Y Missense 4/12 - 2
1-11860302-C-G c.553G>C p.E185Q Missense 4/12 - 1
1-11860307-C-T c.548G>A p.R183Q Missense 4/12 - 5
1-11860308-G-A c.547C>T p.R183* Nonsense 4/12 - 2
1-11860314-G-C c.541C>G p.H181D Missense 4/12 - 2
1-11860320-C-T c.535G>A p.V179M Missense 4/12 - 1
1-11860325-T-A c.530A>T p.D177V Missense 4/12 - 1
1-11860325-T-C c.530A>G p.D177G Missense 4/12 - 1
1-11860330-TG-GT c.524_525delinsAC p.A175D Missense 4/12 - 1
1-11860332-C-T c.523G>A p.A175T Missense 4/12 - 5
1-11860344-C-T c.511G>A p.G171S Missense 4/12 - 1
1-11860347-C-A c.508G>T p.G170* Nonsense 4/12 - 1
1-11860360-C-A c.495G>T p.W165C Missense 4/12 - 1
1-11860360-CC-AT c.494_495delinsAT p.W165Y Missense 4/12 - 1
1-11860360-C-G c.495G>C p.W165C Missense 4/12 - 1
1-11860361-CA-TG c.493_494inv p.W165Q Missense 4/12 - 1
1-11860458-C-G c.476-79G>C - IntronicSNV - 3/11 6
1-11860458-C-T c.476-79G>A - IntronicSNV - 3/11 6
1-11860465-C-G c.476-86G>C - IntronicSNV - 3/11 2
1-11860683-T-C c.476-304A>G - IntronicSNV - 3/11 7
1-11860843-G-A c.475+375C>T - IntronicSNV - 3/11 6
1-11861219-T-A c.474A>T p.G158= Synonymous 3/12 - 1
1-11861220-C-G c.473G>C p.G158A Missense 3/12 - 1
1-11861223-C-T c.470G>A p.R157Q Missense 3/12 - 4
1-11861234-G-C c.459C>G p.I153M Missense 3/12 - 2
1-11861241-T-G c.452A>C p.K151T Missense 3/12 - 1
1-11861247-C-A c.446G>T p.G149V Missense 3/12 - 3
1-11861253-T-G c.440A>C p.Q147P Missense 3/12 - 4
1-11861268-A-G c.425T>C p.L142P Missense 3/12 - 1
1-11861276-C-A c.417G>T p.T139= Synonymous 3/12 - 1
1-11861276-C-G c.417G>C p.T139= Synonymous 3/12 - 1
1-11861277-G-A c.416C>T p.T139M Missense 3/12 - 2
1-11861283-T-C c.410A>G p.E137G Missense 3/12 - 1
1-11861291-GCG-CTT c.400_402delinsAAG p.R134K Missense 3/12 - 11
1-11861292-C-G c.401G>C p.R134P Missense 3/12 - 1
1-11861293-G-A c.400C>T p.R134C Missense 3/12 - 3
1-11861305-A-G c.388T>C p.C130R Missense 3/12 - 1
1-11861307-G-T c.386C>A p.T129N Missense 3/12 - 2
1-11861314-G-A c.379C>T p.H127Y Missense 3/12 - 3
1-11861331-C-G c.362G>C p.G121A Missense 3/12 - 1
1-11861332-C-T c.361G>A p.G121S Missense 3/12 - 1
1-11861339-G-A c.354C>T p.N118= Synonymous 3/12 - 2
1-11861344-C-T c.349G>A p.V117M Missense 3/12 - 1
1-11861346-GC-CA c.346_347delinsTG p.A116C Missense 3/12 - 1
1-11861347-C-T c.346G>A p.A116T Missense 3/12 - 2
1-11861356-C-T c.337G>A p.A113T Missense 3/12 - 4
1-11861363-C-A c.330G>T p.M110I Missense 3/12 - 2
1-11861363-C-G c.330G>C p.M110I Missense 3/12 - 3
1-11861363-C-T c.330G>A p.M110I Missense 3/12 - 2
1-11861368-A-C c.325T>G p.S109A Missense 3/12 - 1
1-11861370-GA-TT c.322_323delinsAA p.S108N Missense 3/12 - 1
1-11861385-GA-CC c.307_308delinsGG p.S103G Missense 3/12 - 1
1-11861389-C-A c.304G>T p.G102C Missense 3/12 - 1
1-11861389-C-T c.304G>A p.G102S Missense 3/12 - 1
1-11861412-GT-CA c.280_281delinsTG p.T94C Missense 3/12 - 1
1-11861416-C-T c.277G>A p.V93M Missense 3/12 - 1
1-11861441-TGC-ACA c.250_252delinsTGT p.A84C Missense 3/12 - 1
1-11861443-C-T c.250G>A p.A84T Missense 3/12 - 1
1-11861449-G-A c.244C>T p.R82W Missense 3/12 - 3
1-11862047-C-A c.237-591G>T - IntronicSNV - 2/11 5
1-11862047-C-T c.237-591G>A - IntronicSNV - 2/11 5
1-11862163-C-A c.237-707G>T - IntronicSNV - 2/11 5
1-11862214-T-C c.236+724A>G - IntronicSNV - 2/11 35
1-11862332-C-T c.236+606G>A - IntronicSNV - 2/11 6
1-11862778-A-G c.236+160T>C - IntronicSNV - 2/11 75
1-11862937-C-T c.236+1G>A - IntronicSNV - 2/11 1
1-11862941-G-C c.233C>G p.S78* Nonsense 2/12 - 2
1-11862959-C-G c.215G>C p.G72A Missense 2/12 - 2
1-11862965-GC-AA c.208_209delinsTT p.A70F Missense 2/12 - 1
1-11862971-C-T c.203G>A p.R68Q Missense 2/12 - 6
1-11862972-G-A c.202C>T p.R68* Nonsense 2/12 - 2
1-11862972-G-C c.202C>G p.R68G Missense 2/12 - 2
1-11862977-G-A c.197C>T p.P66L Missense 2/12 - 2
1-11862997-C-A c.177G>T p.W59C Missense 2/12 - 3
1-11862997-C-G c.177G>C p.W59C Missense 2/12 - 1
1-11862998-C-G c.176G>C p.W59S Missense 2/12 - 4
1-11863007-C-T c.167G>A p.G56D Missense 2/12 - 1
1-11863009-A-C c.165T>G p.S55= Synonymous 2/12 - 1
1-11863010-GA-AG c.163_164delinsCT p.S55L Missense 2/12 - 1
1-11863019-C-T c.155G>A p.R52Q Missense 2/12 - 3
1-11863020-G-A c.154C>T p.R52* Nonsense 2/12 - 1
1-11863022-C-A c.152G>T p.R51L Missense 2/12 - 1
1-11863022-C-G c.152G>C p.R51P Missense 2/12 - 2
1-11863022-C-T c.152G>A p.R51Q Missense 2/12 - 2
1-11863029-T-C c.145A>G p.M49V Missense 2/12 - 1
1-11863030-C-A c.144G>T p.K48N Missense 2/12 - 1
1-11863037-C-G c.137G>C p.R46P Missense 2/12 - 1
1-11863037-C-T c.137G>A p.R46Q Missense 2/12 - 5
1-11863038-G-A c.136C>T p.R46W Missense 2/12 - 8
1-11863052-C-T c.122G>A p.R41Q Missense 2/12 - 1
1-11863056-C-T c.118G>A p.E40K Missense 2/12 - 1
1-11863057-G-A c.117C>T p.P39= Synonymous 2/12 - 20
1-11863057-G-C c.117C>G p.P39= Synonymous 2/12 - 21
1-11863057-G-T c.117C>A p.P39= Synonymous 2/12 - 1
1-11863062-C-T c.112G>A p.D38N Missense 2/12 - 1
1-11863063-CAG-AAA c.109_111delinsTTT p.L37F Missense 2/12 - 1
1-11863064-AG-GC c.109_110delinsGC p.L37A Missense 2/12 - 1
1-11863067-C-G c.107G>C p.G36A Missense 2/12 - 1
1-11863070-GG-CC c.103_104inv p.P35G Missense 2/12 - 1
1-11863074-T-C c.100A>G p.T34A Missense 2/12 - 5
1-11863078-A-G c.96T>C p.C32= Synonymous 2/12 - 1
1-11863082-CT-GC c.91_92delinsGC p.R31A Missense 2/12 - 1
1-11863086-A-C c.88T>G p.S30A Missense 2/12 - 1
1-11863090-ATC-CTT c.82_84delinsAAG p.D28K Missense 2/12 - 1
1-11863093-TT-CA c.80_81delinsTG p.K27M Missense 2/12 - 1
1-11863094-T-C c.80A>G p.K27R Missense 2/12 - 2
1-11863098-A-C c.76T>G p.S26A Missense 2/12 - 1
1-11863100-C-T c.74G>A p.S25N Missense 2/12 - 1
1-11863107-T-A c.67A>T p.S23C Missense 2/12 - 1
1-11863112-C-T c.62G>A p.S21N Missense 2/12 - 1
1-11863117-GG-CT c.56_57delinsAG p.A19E Missense 2/12 - 1
1-11863118-GC-AA c.55_56delinsTT p.A19F Missense 2/12 - 1
1-11863118-G-T c.56C>A p.A19D Missense 2/12 - 1
1-11863119-C-T c.55G>A p.A19T Missense 2/12 - 1
1-11863132-G-A c.42C>T p.C14= Synonymous 2/12 - 1
1-11863135-GGG-CTT c.37_39delinsAAG p.P13K Missense 2/12 - 1
1-11863136-GG-AA c.37_38delinsTT p.P13F Missense 2/12 - 1
1-11863145-CT-GC c.28_29delinsGC p.S10A Missense 2/12 - 6
1-11863145-CT-TC c.28_29delinsGA p.S10D Missense 2/12 - 1
1-11863145-CT-TG c.28_29delinsCA p.S10H Missense 2/12 - 1
1-11863146-T-A c.28A>T p.S10C Missense 2/12 - 2
1-11863146-T-C c.28A>G p.S10G Missense 2/12 - 1
1-11863153-TC-T c.20del p.G7Efs*43 Frameshift 2/12 - 1
1-11863155-C-T c.19G>A p.G7R Missense 2/12 - 1
1-11863158-T-A c.16A>T p.R6* Nonsense 2/12 - 1
1-11863589-C-T c.-13-403G>A - IntronicSNV - 1/11 1
1-11863597-G-A c.-13-411C>T - IntronicSNV - 1/11 1
1-11863597-G-C c.-13-411C>G - IntronicSNV - 1/11 1
1-11863597-G-T c.-13-411C>A - IntronicSNV - 1/11 1
1-11863604-G-A c.-13-418C>T - IntronicSNV - 1/11 1
1-11863606-G-A c.-13-420C>T - IntronicSNV - 1/11 1
1-11863608-A-C c.-13-422T>G - IntronicSNV - 1/11 1
1-11863904-C-T c.-13-718G>A - IntronicSNV - 1/11 2
1-11863974-C-A c.-13-788G>T - IntronicSNV - 1/11 3
1-11863974-C-T c.-13-788G>A - IntronicSNV - 1/11 3
1-11864262-T-C c.-13-1076A>G - IntronicSNV - 1/11 1
1-11864378-G-A c.-13-1192C>T - IntronicSNV - 1/11 1
1-11864586-T-C c.-14+1359A>G - intron_variant - 1/11 9
1-11865236-C-T c.-14+709G>A - intron_variant - 1/11 1
1-11865542-A-C c.-14+403T>G - intron_variant - 1/11 4
1-11865804-A-G c.-14+141T>C - intron_variant - 1/11 14
1-11865817-C-A c.-14+128G>T - intron_variant - 1/11 1
1-11865817-C-T c.-14+128G>A - intron_variant - 1/11 1