MTHFR methylenetetrahydrofolate reductase

Canonical transcript: NM_005957

315 unique variant annotations were identified in 506 publications

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 - 32
1-11850365-T-G c.*372A>C - 3-UTRSNV 12/12 - 32
1-11850434-C-T c.*303G>A - 3-UTRSNV 12/12 - 2
1-11850696-G-A c.*41C>T - 3-UTRSNV 12/12 - 2
1-11850738-C-G c.1970G>C p.*657Serext*50 Missense 12/12 - 4
1-11850739-A-G c.1969T>C p.*657Argext*50 Missense 12/12 - 1
1-11850750-G-A c.1958C>T p.Thr653Met Missense 12/12 - 4
1-11850793-T-C c.1915A>G p.Thr639Ala Missense 12/12 - 1
1-11850825-A-G c.1883T>C p.Leu628Pro Missense 12/12 - 1
1-11850892-G-A c.1816C>T p.Arg606Cys Missense 12/12 - 1
1-11850900-GGACTCCTCCTCA-G c.1797_1808del p.Glu600_Ser603del InFrameDeletion 12/12 - 1
1-11850904-C-T c.1804G>A p.Glu602Lys Missense 12/12 - 1
1-11850915-A-G c.1793T>C p.Leu598Pro Missense 12/12 - 2
1-11850927-C-T c.1781G>A p.Arg594Gln Missense 12/12 - 77
1-11850928-CG-C c.1780del p.Arg594Glyfs*68 Frameshift 12/12 - 1
1-11850942-GG-G c.1768del p.Leu590Cysfs*72 Frameshift 12/12 - 1
1-11850950-C-A c.1758G>T p.Glu586Asp Missense 12/12 - 1
1-11850950-C-T c.1758G>A p.Glu586Glu Synonymous 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 4
1-11851185-C-T c.1752+79G>A - IntronicSNV - 11/11 1
1-11851263-C-A c.1752+1G>T - IntronicSNV - 11/11 1
1-11851266-T-A c.1750A>T p.Lys584* Nonsense 11/12 - 1
1-11851273-C-T c.1743G>A p.Met581Ile Missense 11/12 - 3
1-11851284-C-T c.1732G>A p.Val578Ile Missense 11/12 - 1
1-11851292-A-C c.1724T>G p.Val575Gly Missense 11/12 - 1
1-11851298-GT-TG c.1717_1718delinsCA p.Thr573His Missense 11/12 - 1
1-11851301-G-A c.1715C>T p.Pro572Leu Missense 11/12 - 2
1-11851317-G-A c.1699C>T p.Arg567* Nonsense 11/12 - 1
1-11851319-C-T c.1697G>A p.Gly566Glu Missense 11/12 - 1
1-11851333-C-T c.1683G>A p.Trp561* Nonsense 11/12 - 2
1-11851350-G-C c.1666C>G p.Pro556Ala Missense 11/12 - 1
1-11851354-CAG-TTT c.1660_1662delinsAAA p.Leu554Lys Missense 11/12 - 3
1-11851370-GT-GA c.1645delinsT p.Thr549Ser Missense 11/12 - 1
1-11851371-T-C c.1645A>G p.Thr549Ala Missense 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 24
1-11852300-C-T c.1632+35G>A - IntronicSNV - 10/11 24
1-11852333-A-C c.1632+2T>G - IntronicSNV - 10/11 1
1-11852342-T-G c.1625A>C p.Asn542Thr Missense 10/12 - 1
1-11852361-C-A c.1606G>T p.Val536Phe Missense 10/12 - 1
1-11852363-C-T c.1604G>A p.Arg535Gln Missense 10/12 - 1
1-11852364-G-A c.1603C>T p.Arg535Trp Missense 10/12 - 1
1-11852371-G-C c.1596C>G p.Tyr532* Nonsense 10/12 - 1
1-11852374-AC-A c.1593del p.Lys531Asnfs*13 Frameshift 10/12 - 1
1-11852378-T-C c.1589A>G p.Lys530Arg Missense 10/12 - 1
1-11852411-C-A c.1556G>T p.Arg519Leu Missense 10/12 - 2
1-11852411-C-T c.1556G>A p.Arg519His Missense 10/12 - 1
1-11852412-G-A c.1555C>T p.Arg519Cys Missense 10/12 - 2
1-11852425-C-T c.1542G>A p.Glu514Glu Synonymous 10/12 - 1
1-11852428-T-TT c.1539dup p.Glu514Argfs*24 Frameshift 10/12 - 1
1-11852432-T-C c.1535A>G p.Tyr512Cys Missense 10/12 - 1
1-11852432-T-TCC c.1534_1535insGG p.Tyr512Trpfs*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.Lys510Lys Synonymous 9/12 - 4
1-11853966-TTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTC-T c.1470_1528del p.Lys491Glyfs*27 InFrameDeletion 9/12 - 1
1-11853978-A-C c.1516T>G p.Tyr506Asp Missense 9/12 - 2
1-11853984-C-T c.1510G>A p.Gly504Arg Missense 9/12 - 1
1-11853993-C-A c.1501G>T p.Gly501Cys Missense 9/12 - 1
1-11854009-G-C c.1485C>G p.Asp495Glu Missense 9/12 - 1
1-11854009-G-T c.1485C>A p.Asp495Glu Missense 9/12 - 1
1-11854074-C-A c.1420G>T p.Val474Leu Missense 9/12 - 1
1-11854074-C-T c.1420G>A p.Val474Met Missense 9/12 - 1
1-11854085-T-A c.1409A>T p.Glu470Val Missense 9/12 - 1
1-11854085-T-C c.1409A>G p.Glu470Gly Missense 9/12 - 1
1-11854085-T-G c.1409A>C p.Glu470Ala Missense 9/12 - 2
1-11854086-C-A c.1408G>T p.Glu470* Nonsense 9/12 - 3
1-11854089-C-T c.1405G>A p.Glu469Lys Missense 9/12 - 4
1-11854105-C-A c.1389G>T p.Glu463Asp Missense 9/12 - 1
1-11854105-C-G c.1389G>C p.Glu463Asp Missense 9/12 - 1
1-11854107-C-G c.1387G>C p.Glu463Gln Missense 9/12 - 1
1-11854139-C-A c.1355G>T p.Cys452Phe Missense 9/12 - 1
1-11854139-CA-AC c.1354_1355delinsGT p.Cys452Val Missense 9/12 - 5
1-11854146-C-A c.1348G>T p.Val450Leu Missense 9/12 - 1
1-11854146-C-G c.1348G>C p.Val450Leu Missense 9/12 - 1
1-11854414-C-T c.1347+1G>A - IntronicSNV - 8/11 1
1-11854442-C-A c.1320G>T p.Ser440Ser Synonymous 8/12 - 1
1-11854442-C-G c.1320G>C p.Ser440Ser Synonymous 8/12 - 1
1-11854442-C-T c.1320G>A p.Ser440Ser Synonymous 8/12 - 1
1-11854443-G-A c.1319C>T p.Ser440Leu Missense 8/12 - 2
1-11854457-G-A c.1305C>T p.Phe435Phe Synonymous 8/12 - 9
1-11854464-T-G c.1298A>C p.Glu433Ala Missense 8/12 - 46
1-11854473-C-A c.1289G>T p.Ser430Ile Missense 8/12 - 1
1-11854476-T-A c.1286A>T p.Glu429Val Missense 8/12 - 2
1-11854476-T-G c.1286A>C p.Glu429Ala Missense 8/12 - 618
1-11854479-T-G c.1283A>C p.Glu428Ala Missense 8/12 - 1
1-11854498-C-G c.1264G>C p.Gly422Arg Missense 8/12 - 2
1-11854498-C-T c.1264G>A p.Gly422Arg Missense 8/12 - 2
1-11854500-C-CC c.1267dup p.Glu423Glyfs*6 Frameshift 8/12 - 1
1-11854500-C-G c.1262G>C p.Trp421Ser Missense 8/12 - 2
1-11854503-A-G c.1259T>C p.Met420Thr Missense 8/12 - 1
1-11854526-G-A c.1236C>T p.Ser412Ser Synonymous 8/12 - 2
1-11854569-C-G c.1193G>C p.Gly398Ala Missense 8/12 - 1
1-11854597-CT-C c.1167-2del - IntronicDeletion - 7/11 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.Trp389* Nonsense 7/12 - 2
1-11854790-G-A c.1162C>T p.Arg388Cys Missense 7/12 - 1
1-11854792-C-T c.1160G>A p.Gly387Asp Missense 7/12 - 1
1-11854810-C-T c.1142G>A p.Trp381* Nonsense 7/12 - 1
1-11854811-A-G c.1141T>C p.Trp381Arg Missense 7/12 - 1
1-11854822-C-T c.1130G>A p.Arg377His Missense 7/12 - 2
1-11854823-G-A c.1129C>T p.Arg377Cys Missense 7/12 - 2
1-11854830-G-C c.1122C>G p.Tyr374* Nonsense 7/12 - 1
1-11854838-T-C c.1114A>G p.Lys372Glu Missense 7/12 - 2
1-11854849-G-C c.1103C>G p.Ala368Gly Missense 7/12 - 1
1-11854849-GC-CT c.1102_1103delinsAG p.Ala368Ser Missense 7/12 - 1
1-11854864-C-T c.1088G>A p.Arg363His Missense 7/12 - 1
1-11854880-G-A c.1072C>T p.Arg358* Nonsense 7/12 - 1
1-11854882-C-T c.1070G>A p.Arg357His Missense 7/12 - 1
1-11854892-G-A c.1060C>T p.His354Tyr Missense 7/12 - 2
1-11854896-G-A c.1056C>T p.Ser352Ser Synonymous 7/12 - 11
1-11854910-G-A c.1042C>T p.Pro348Ser Missense 7/12 - 1
1-11854913-G-A c.1039C>T p.Leu347Leu Synonymous 7/12 - 1
1-11854919-G-A c.1033C>T p.Arg345Cys Missense 7/12 - 1
1-11855171-A-C c.1015T>G p.Trp339Gly Missense 6/12 - 2
1-11855173-A-G c.1013T>C p.Met338Thr Missense 6/12 - 1
1-11855179-AG-TC c.1006_1007delinsGA p.Leu336Glu Missense 6/12 - 1
1-11855182-C-T c.1004G>A p.Arg335His Missense 6/12 - 3
1-11855188-A-G c.998T>C p.Leu333Pro Missense 6/12 - 1
1-11855200-G-A c.986C>T p.Thr329Ile Missense 6/12 - 1
1-11855215-T-C c.971A>G p.Asn324Ser Missense 6/12 - 2
1-11855269-CA-GT c.916_917delinsAC p.Cys306Thr Missense 6/12 - 1
1-11855269-C-G c.917G>C p.Cys306Ser Missense 6/12 - 1
1-11855270-A-G c.916T>C p.Cys306Arg Missense 6/12 - 1
1-11855270-A-T c.916T>A p.Cys306Ser Missense 6/12 - 1
1-11855286-CTC-CAT c.898_899delinsAT p.Glu300Met Missense 6/12 - 1
1-11855293-CC-AC c.893delinsT p.Gly298Val Missense 6/12 - 2
1-11855301-GC-AA c.884_885delinsTT p.Arg295Leu Missense 6/12 - 1
1-11855306-T-C c.880A>G p.Ile294Val Missense 6/12 - 1
1-11855315-C-T c.871G>A p.Asp291Asn Missense 6/12 - 3
1-11855316-G-A c.870C>T p.Asn290Asn Synonymous 6/12 - 1
1-11855326-A-G c.860T>C p.Ile287Thr Missense 6/12 - 1
1-11855332-T-A c.854A>T p.Glu285Val Missense 6/12 - 1
1-11855386-T-C c.800A>G p.Gln267Arg Missense 6/12 - 1
1-11855386-TG-TC c.799delinsG p.Gln267Glu Missense 6/12 - 1
1-11855395-GA-GG c.790delinsC p.Ser264Pro Missense 6/12 - 1
1-11855405-C-A c.781G>T p.Gly261Cys Missense 6/12 - 1
1-11855406-C-T c.781-1G>A - IntronicSNV - 5/11 1
1-11855407-T-C c.781-2A>G - IntronicSNV - 5/11 1
1-11855867-G-A c.780+396C>T - IntronicSNV - 5/11 5
1-11856262-C-A c.780+1G>T - IntronicSNV - 5/11 1
1-11856274-A-C c.769T>G p.Phe257Val Missense 5/12 - 1
1-11856276-A-T c.767T>A p.Ile256Asn Missense 5/12 - 2
1-11856279-C-A c.764G>T p.Gly255Val Missense 5/12 - 1
1-11856283-G-A c.760C>T p.Pro254Ser Missense 5/12 - 1
1-11856286-C-A c.757G>T p.Val253Phe Missense 5/12 - 1
1-11856301-T-C c.742A>G p.Ile248Val Missense 5/12 - 1
1-11856324-A-T c.719T>A p.Val240Glu Missense 5/12 - 1
1-11856332-GAA-GAG c.709delinsC p.Phe237Leu Missense 5/12 - 1
1-11856332-G-C c.711C>G p.Phe237Leu Missense 5/12 - 1
1-11856332-G-T c.711C>A p.Phe237Leu Missense 5/12 - 1
1-11856334-A-G c.709T>C p.Phe237Leu Missense 5/12 - 1
1-11856345-G-C c.698C>G p.Ala233Gly Missense 5/12 - 1
1-11856362-C-T c.681G>A p.Thr227Thr Synonymous 5/12 - 1
1-11856363-G-A c.680C>T p.Thr227Met Missense 5/12 - 1
1-11856370-ATGA-A c.677_679del p.Ile226del InFrameDeletion 5/12 - 1
1-11856370-T-G c.673A>C p.Ile225Leu Missense 5/12 - 1
1-11856376-C-G c.667G>C p.Asp223His Missense 5/12 - 1
1-11856376-C-T c.667G>A p.Asp223Asn Missense 5/12 - 5
1-11856377-G-A c.666C>T p.Ala222Ala Synonymous 5/12 - 2
1-11856377-G-C c.666C>G p.Ala222Ala Synonymous 5/12 - 2
1-11856377-G-T c.666C>A p.Ala222Ala Synonymous 5/12 - 2
1-11856378-G-A c.665C>T p.Ala222Val Missense 5/12 - 1122
1-11856378-G-T c.665C>A p.Ala222Asp Missense 5/12 - 1
1-11856382-C-T c.661G>A p.Gly221Arg Missense 5/12 - 1
1-11856383-CC-C c.662del p.Gly221Glufs*20 Frameshift 5/12 - 1
1-11856386-CAGA-C c.655_657del p.Ser219del InFrameDeletion 5/12 - 1
1-11856387-GA-GG c.655delinsC p.Ser219Pro Missense 5/12 - 1
1-11856399-CTTC-C c.643_645del p.Lys215del InFrameDeletion 5/12 - 2
1-11856405-T-C c.638A>G p.His213Arg Missense 5/12 - 2
1-11856417-G-C c.626C>G p.Ala209Gly Missense 5/12 - 1
1-11856430-C-T c.613G>A p.Gly205Arg Missense 5/12 - 1
1-11856436-C-G c.607G>C p.Glu203Gln Missense 5/12 - 1
1-11856437-G-A c.606C>T p.Pro202Pro Synonymous 5/12 - 1
1-11856439-G-A c.604C>T p.Pro202Ser Missense 5/12 - 1
1-11856439-G-T c.604C>A p.Pro202Thr Missense 5/12 - 1
1-11856442-G-A c.601C>T p.His201Tyr Missense 5/12 - 2
1-11856450-G-A c.593C>T p.Pro198Leu Missense 5/12 - 2
1-11856456-C-G c.587G>C p.Gly196Ala Missense 5/12 - 2
1-11856456-C-T c.587G>A p.Gly196Asp Missense 5/12 - 1
1-11856847-G-A c.587-391C>T - IntronicSNV - 4/11 2
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 1
1-11857788-G-A c.587-1332C>T - IntronicSNV - 4/11 8
1-11857951-T-A c.587-1495A>T - IntronicSNV - 4/11 9
1-11857951-T-C c.587-1495A>G - IntronicSNV - 4/11 9
1-11858036-A-G c.587-1580T>C - 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 4
1-11860269-C-T c.586G>A p.Gly196Ser Missense 4/12 - 1
1-11860271-G-A c.584C>T p.Ala195Val Missense 4/12 - 2
1-11860277-C-T c.578G>A p.Cys193Tyr Missense 4/12 - 1
1-11860290-A-G c.565T>C p.Tyr189His Missense 4/12 - 1
1-11860307-C-T c.548G>A p.Arg183Gln Missense 4/12 - 1
1-11860308-G-A c.547C>T p.Arg183* Nonsense 4/12 - 1
1-11860314-G-C c.541C>G p.His181Asp Missense 4/12 - 1
1-11860320-C-T c.535G>A p.Val179Met Missense 4/12 - 1
1-11860325-T-C c.530A>G p.Asp177Gly Missense 4/12 - 1
1-11860332-C-T c.523G>A p.Ala175Thr Missense 4/12 - 2
1-11860334-TA-CG c.520_521delinsCG p.Tyr174Arg Missense 4/12 - 1
1-11860360-CC-TT c.494_495delinsAA p.Trp165* Missense 4/12 - 1
1-11860361-CA-GA c.494delinsC p.Trp165Ser 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 5
1-11861219-T-A c.474A>T p.Gly158Gly Synonymous 3/12 - 1
1-11861223-C-T c.470G>A p.Arg157Gln Missense 3/12 - 1
1-11861234-G-A c.459C>T p.Ile153Ile Synonymous 3/12 - 1
1-11861238-T-C c.455A>G p.Asn152Ser Missense 3/12 - 1
1-11861241-T-G c.452A>C p.Lys151Thr Missense 3/12 - 1
1-11861246-GC-AA c.446_447delinsTT p.Gly149Val Missense 3/12 - 1
1-11861253-T-G c.440A>C p.Gln147Pro Missense 3/12 - 2
1-11861276-C-A c.417G>T p.Thr139Thr Synonymous 3/12 - 1
1-11861276-C-G c.417G>C p.Thr139Thr Synonymous 3/12 - 1
1-11861276-C-T c.417G>A p.Thr139Thr Synonymous 3/12 - 1
1-11861277-G-A c.416C>T p.Thr139Met Missense 3/12 - 1
1-11861291-GCG-AAG c.401_402delinsTT p.Arg134Leu Missense 3/12 - 9
1-11861292-CG-TT c.400_401delinsAA p.Arg134Asn Missense 3/12 - 1
1-11861293-G-A c.400C>T p.Arg134Cys Missense 3/12 - 4
1-11861293-G-T c.400C>A p.Arg134Ser Missense 3/12 - 1
1-11861299-G-A c.394C>T p.Arg132Cys Missense 3/12 - 1
1-11861307-G-T c.386C>A p.Thr129Asn Missense 3/12 - 1
1-11861314-G-A c.379C>T p.His127Tyr Missense 3/12 - 2
1-11861325-TC-AC c.368delinsT p.Glu123Val Missense 3/12 - 1
1-11861331-C-G c.362G>C p.Gly121Ala Missense 3/12 - 2
1-11861332-C-T c.361G>A p.Gly121Ser Missense 3/12 - 1
1-11861336-GTA-CAA c.356_357delinsTG p.Tyr119Leu Missense 3/12 - 1
1-11861339-G-A c.354C>T p.Asn118Asn Synonymous 3/12 - 2
1-11861344-C-T c.349G>A p.Val117Met Missense 3/12 - 1
1-11861346-GC-TG c.346_347delinsCA p.Ala116His Missense 3/12 - 1
1-11861347-C-T c.346G>A p.Ala116Thr Missense 3/12 - 1
1-11861356-C-T c.337G>A p.Ala113Thr Missense 3/12 - 2
1-11861363-C-A c.330G>T p.Met110Ile Missense 3/12 - 3
1-11861363-C-G c.330G>C p.Met110Ile Missense 3/12 - 3
1-11861363-C-T c.330G>A p.Met110Ile Missense 3/12 - 3
1-11861370-GA-AA c.323delinsT p.Ser108Phe Missense 3/12 - 1
1-11861389-C-A c.304G>T p.Gly102Cys Missense 3/12 - 1
1-11861412-GT-TG c.280_281delinsCA p.Thr94His Missense 3/12 - 1
1-11861418-TC-AC c.275delinsT p.Asp92Val Missense 3/12 - 1
1-11861441-TGC-TGT c.250delinsA p.Ala84Thr Missense 3/12 - 1
1-11861443-C-T c.250G>A p.Ala84Thr Missense 3/12 - 1
1-11861449-G-A c.244C>T p.Arg82Trp Missense 3/12 - 1
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 31
1-11862332-C-T c.236+606G>A - IntronicSNV - 2/11 4
1-11862778-A-G c.236+160T>C - IntronicSNV - 2/11 58
1-11862937-C-T c.236+1G>A - IntronicSNV - 2/11 1
1-11862941-G-C c.233C>G p.Ser78* Nonsense 2/12 - 1
1-11862943-GA-GG c.230delinsC p.Ile77Thr Missense 2/12 - 1
1-11862959-C-G c.215G>C p.Gly72Ala Missense 2/12 - 2
1-11862968-GT-TT c.206delinsA p.Thr69Asn Missense 2/12 - 1
1-11862971-C-T c.203G>A p.Arg68Gln Missense 2/12 - 6
1-11862972-G-C c.202C>G p.Arg68Gly Missense 2/12 - 1
1-11862974-GG-GT c.199delinsA p.Pro67Thr Missense 2/12 - 1
1-11862977-G-A c.197C>T p.Pro66Leu Missense 2/12 - 1
1-11862997-C-A c.177G>T p.Trp59Cys Missense 2/12 - 2
1-11862998-C-G c.176G>C p.Trp59Ser Missense 2/12 - 2
1-11863007-C-T c.167G>A p.Gly56Asp Missense 2/12 - 1
1-11863017-A-T c.157T>A p.Leu53Met Missense 2/12 - 1
1-11863019-C-T c.155G>A p.Arg52Gln Missense 2/12 - 1
1-11863020-G-A c.154C>T p.Arg52* Nonsense 2/12 - 1
1-11863022-C-T c.152G>A p.Arg51Gln Missense 2/12 - 1
1-11863037-C-T c.137G>A p.Arg46Gln Missense 2/12 - 2
1-11863038-G-A c.136C>T p.Arg46Trp Missense 2/12 - 5
1-11863057-G-A c.117C>T p.Pro39Pro Synonymous 2/12 - 20
1-11863057-G-C c.117C>G p.Pro39Pro Synonymous 2/12 - 20
1-11863057-G-T c.117C>A p.Pro39Pro Synonymous 2/12 - 4
1-11863064-AG-GC c.109_110delinsGC p.Leu37Ala Missense 2/12 - 1
1-11863067-C-G c.107G>C p.Gly36Ala Missense 2/12 - 1
1-11863074-T-C c.100A>G p.Thr34Ala Missense 2/12 - 5
1-11863082-CT-GC c.91_92delinsGC p.Arg31Ala Missense 2/12 - 1
1-11863086-A-C c.88T>G p.Ser30Ala Missense 2/12 - 1
1-11863090-ATC-AAG c.82_83delinsCT p.Asp28Leu Missense 2/12 - 1
1-11863093-TT-TG c.80delinsC p.Lys27Thr Missense 2/12 - 1
1-11863094-T-C c.80A>G p.Lys27Arg Missense 2/12 - 1
1-11863098-A-C c.76T>G p.Ser26Ala Missense 2/12 - 1
1-11863107-T-A c.67A>T p.Ser23Cys Missense 2/12 - 1
1-11863112-C-T c.62G>A p.Ser21Asn Missense 2/12 - 1
1-11863118-G-T c.56C>A p.Ala19Asp Missense 2/12 - 1
1-11863135-GGG-AAG c.38_39delinsTT p.Pro13Leu Missense 2/12 - 1
1-11863136-GG-TT c.37_38delinsAA p.Pro13Asn Missense 2/12 - 1
1-11863145-CT-CA c.28delinsT p.Ser10Cys Missense 2/12 - 1
1-11863145-CT-GC c.28_29delinsGC p.Ser10Ala Missense 2/12 - 1
1-11863146-T-C c.28A>G p.Ser10Gly Missense 2/12 - 1
1-11863158-T-A c.16A>T p.Arg6* 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 2
1-11863974-C-T c.-13-788G>A - IntronicSNV - 1/11 2
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 12
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