ESR1 estrogen receptor 1

Canonical transcript: NM_000125

645 unique variant annotations were identified in 786 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
6-152129050-G-GTGGA c.3_4insTGGA p.Thr2Trpfs*85 Frameshift 1/8 - 1
6-152129060-C-G c.13C>G p.Leu5Val Missense 1/8 - 1
6-152129063-C-T c.16C>T p.His6Tyr Missense 1/8 - 1
6-152129075-TCT-GAG c.28_30delinsGAG p.Ser10Glu Missense 1/8 - 2
6-152129075-T-G c.28T>G p.Ser10Ala Missense 1/8 - 19
6-152129075-TC-AT c.28_29delinsAT p.Ser10Ile Missense 1/8 - 1
6-152129075-TC-GA c.28_29inv p.Ser10Asp Missense 1/8 - 4
6-152129076-C-G c.29C>G p.Ser10Cys Missense 1/8 - 10
6-152129077-T-C c.30T>C p.Ser10Ser Synonymous 1/8 - 68
6-152129077-T-A c.30T>A p.Ser10Ser Synonymous 1/8 - 67
6-152129081-A-T c.34A>T p.Met12Leu Missense 1/8 - 3
6-152129081-A-C c.34A>C p.Met12Leu Missense 1/8 - 3
6-152129084-GC-TA c.37_38delinsTA p.Ala13Tyr Missense 1/8 - 1
6-152129084-GC-TG c.37_38delinsTG p.Ala13Cys Missense 1/8 - 1
6-152129085-CC-AG c.38_39delinsAG p.Ala13Glu Missense 1/8 - 1
6-152129085-C-A c.38C>A p.Ala13Asp Missense 1/8 - 1
6-152129093-CA-GC c.46_47delinsGC p.His16Ala Missense 1/8 - 2
6-152129095-T-A c.48T>A p.His16Gln Missense 1/8 - 1
6-152129095-T-G c.48T>G p.His16Gln Missense 1/8 - 1
6-152129099-AT-TG c.52_53delinsTG p.Ile18Cys Missense 1/8 - 1
6-152129111-G-C c.64G>C p.Glu22Gln Missense 1/8 - 1
6-152129111-GA-CC c.64_65delinsCC p.Glu22Pro Missense 1/8 - 1
6-152129111-G-A c.64G>A p.Glu22Lys Missense 1/8 - 1
6-152129112-A-G c.65A>G p.Glu22Gly Missense 1/8 - 1
6-152129114-CT-GC c.67_68delinsGC p.Leu23Ala Missense 1/8 - 1
6-152129117-GAG-TTT c.70_72delinsTTT p.Glu24Phe Missense 1/8 - 1
6-152129118-A-G c.71A>G p.Glu24Gly Missense 1/8 - 1
6-152129121-C-A c.74C>A p.Pro25His Missense 1/8 - 1
6-152129126-AAC-CAA c.79_81delinsCAA p.Asn27Gln Missense 1/8 - 1
6-152129126-AA-GC c.79_80delinsGC p.Asn27Ala Missense 1/8 - 1
6-152129129-C-A c.82C>A p.Arg28Ser Missense 1/8 - 1
6-152129130-GT-AA c.83_84delinsAA p.Arg28Gln Missense 1/8 - 1
6-152129138-CTC-TGG c.91_93delinsTGG p.Leu31Trp Missense 1/8 - 1
6-152129138-CTC-ATG c.91_93delinsATG p.Leu31Met Missense 1/8 - 1
6-152129144-AT-TG c.97_98delinsTG p.Ile33Cys Missense 1/8 - 1
6-152129153-G-A c.106G>A p.Glu36Lys Missense 1/8 - 1
6-152129154-A-C c.107A>C p.Glu36Ala Missense 1/8 - 2
6-152129156-CGG-TGT c.109_111delinsTGT p.Arg37Cys Missense 1/8 - 1
6-152129159-CC-GG c.112_113inv p.Pro38Gly Missense 1/8 - 1
6-152129159-C-G c.112C>G p.Pro38Ala Missense 1/8 - 1
6-152129170-G-T c.123G>T p.Glu41Asp Missense 1/8 - 1
6-152129170-G-C c.123G>C p.Glu41Asp Missense 1/8 - 1
6-152129178-TG-AT c.131_132delinsAT p.Leu44His Missense 1/8 - 1
6-152129180-GA-CG c.133_134delinsCG p.Asp45Arg Missense 1/8 - 1
6-152129180-GA-TG c.133_134delinsTG p.Asp45Cys Missense 1/8 - 1
6-152129187-G-C c.140G>C p.Ser47Thr Missense 1/8 - 1
6-152129190-A-G c.143A>G p.Lys48Arg Missense 1/8 - 2
6-152129192-C-G c.145C>G p.Pro49Ala Missense 1/8 - 1
6-152129195-G-T c.148G>T p.Ala50Ser Missense 1/8 - 1
6-152129203-C-A c.156C>A p.Tyr52* Nonsense 1/8 - 1
6-152129219-G-A c.172G>A p.Ala58Thr Missense 1/8 - 1
6-152129220-CC-AG c.173_174delinsAG p.Ala58Glu Missense 1/8 - 1
6-152129228-GAG-ATC c.181_183delinsATC p.Glu61Ile Missense 1/8 - 1
6-152129228-GAG-TGT c.181_183delinsTGT p.Glu61Cys Missense 1/8 - 1
6-152129238-CC-AG c.191_192delinsAG p.Ala64Glu Missense 1/8 - 1
6-152129240-G-A c.193G>A p.Ala65Thr Missense 1/8 - 1
6-152129241-C-A c.194C>A p.Ala65Glu Missense 1/8 - 1
6-152129243-GC-TG c.196_197delinsTG p.Ala66Cys Missense 1/8 - 1
6-152129244-CC-AG c.197_198delinsAG p.Ala66Glu Missense 1/8 - 1
6-152129244-C-A c.197C>A p.Ala66Asp Missense 1/8 - 1
6-152129244-C-G c.197C>G p.Ala66Gly Missense 1/8 - 1
6-152129246-G-C c.199G>C p.Ala67Pro Missense 1/8 - 1
6-152129246-GC-TG c.199_200delinsTG p.Ala67Cys Missense 1/8 - 1
6-152129253-AC-GG c.206_207delinsGG p.Asn69Arg Missense 1/8 - 1
6-152129270-C-G c.223C>G p.Gln75Glu Missense 1/8 - 1
6-152129276-G-A c.229G>A p.Gly77Ser Missense 1/8 - 1
6-152129276-G-C c.229G>C p.Gly77Arg Missense 1/8 - 1
6-152129286-A-T c.239A>T p.Tyr80Phe Missense 1/8 - 1
6-152129308-G-A c.261G>A p.Ala87Ala Synonymous 1/8 - 9
6-152129308-G-C c.261G>C p.Ala87Ala Synonymous 1/8 - 9
6-152129308-G-T c.261G>T p.Ala87Ala Synonymous 1/8 - 1
6-152129310-CG-AC c.263_264delinsAC p.Ala88Asp Missense 1/8 - 1
6-152129314-C-A c.267C>A p.Phe89Leu Missense 1/8 - 1
6-152129314-C-G c.267C>G p.Phe89Leu Missense 1/8 - 1
6-152129312-T-C c.265T>C p.Phe89Leu Missense 1/8 - 1
6-152129315-G-C c.268G>C p.Gly90Arg Missense 1/8 - 1
6-152129324-G-C c.277G>C p.Gly93Arg Missense 1/8 - 1
6-152129324-G-A c.277G>A p.Gly93Ser Missense 1/8 - 1
6-152129324-G-T c.277G>T p.Gly93Cys Missense 1/8 - 2
6-152129325-G-A c.278G>A p.Gly93Asp Missense 1/8 - 1
6-152129325-G-T c.278G>T p.Gly93Val Missense 1/8 - 1
6-152129325-G-C c.278G>C p.Gly93Ala Missense 1/8 - 11
6-152129330-GG-TA c.283_284delinsTA p.Gly95* Nonsense 1/8 - 1
6-152129354-GTG-TGT c.307_309delinsTGT p.Val103Cys Missense 1/8 - 2
6-152129357-T-G c.310T>G p.Ser104Ala Missense 1/8 - 1
6-152129360-C-T c.313C>T p.Pro105Ser Missense 1/8 - 1
6-152129368-G-T c.321G>T p.Pro107Pro Synonymous 1/8 - 1
6-152129372-ATG-TGT c.325_327delinsTGT p.Met109Cys Missense 1/8 - 1
6-152129383-C-A c.336C>A p.His112Gln Missense 1/8 - 1
6-152129383-C-G c.336C>G p.His112Gln Missense 1/8 - 1
6-152129393-C-G c.346C>G p.Gln116Glu Missense 1/8 - 1
6-152129399-TC-GA c.352_353inv p.Ser118Glu Missense 1/8 - 2
6-152129399-T-G c.352T>G p.Ser118Ala Missense 1/8 - 6
6-152129399-T-C c.352T>C p.Ser118Pro Missense 1/8 - 3
6-152129399-TCG-GAC c.352_354delinsGAC p.Ser118Asp Missense 1/8 - 1
6-152129400-CG-GT c.353_354delinsGT p.Ser118Cys Missense 1/8 - 1
6-152129429-G-A c.382G>A p.Val128Met Missense 1/8 - 1
6-152129470-G-A c.423G>A p.Val141Val Synonymous 1/8 - 1
6-152129484-C-A c.437C>A p.Pro146Gln Missense 1/8 - 3
6-152129484-C-T c.437C>T p.Pro146Leu Missense 1/8 - 2
6-152129489-G-A c.442G>A p.Ala148Thr Missense 1/8 - 1
6-152129497-C-A c.450C>A p.Tyr150* Nonsense 1/8 - 1
6-152129545-A-AAGGG c.452+46_452+47insAGGG - IntronicInsertion - 1/7 1
6-152129588-C-T c.452+89C>T - IntronicSNV - 1/7 3
6-152129588-C-G c.452+89C>G - IntronicSNV - 1/7 3
6-152129610-G-C c.452+111G>C - IntronicSNV - 1/7 1
6-152129746-G-T c.452+247G>T - IntronicSNV - 1/7 1
6-152129746-G-A c.452+247G>A - IntronicSNV - 1/7 1
6-152130314-C-T c.452+815C>T - IntronicSNV - 1/7 1
6-152130432-T-C c.452+933T>C - IntronicSNV - 1/7 1
6-152130918-A-G c.452+1419A>G - IntronicSNV - 1/7 10
6-152131321-G-A c.452+1822G>A - IntronicSNV - 1/7 3
6-152132099-T-G c.452+2600T>G - IntronicSNV - 1/7 1
6-152132099-T-C c.452+2600T>C - IntronicSNV - 1/7 1
6-152132317-C-T c.452+2818C>T - IntronicSNV - 1/7 3
6-152133187-C-T c.452+3688C>T - IntronicSNV - 1/7 6
6-152139886-T-C c.452+10387T>C - IntronicSNV - 1/7 4
6-152140042-A-G c.452+10543A>G - IntronicSNV - 1/7 1
6-152140940-G-A c.452+11441G>A - IntronicSNV - 1/7 1
6-152142859-G-C c.452+13360G>C - IntronicSNV - 1/7 1
6-152143389-C-A c.452+13890C>A - IntronicSNV - 1/7 1
6-152146721-T-C c.453-17011T>C - IntronicSNV - 1/7 2
6-152147207-C-T c.453-16525C>T - IntronicSNV - 1/7 1
6-152147207-C-G c.453-16525C>G - IntronicSNV - 1/7 1
6-152147285-G-A c.453-16447G>A - IntronicSNV - 1/7 1
6-152148098-G-A c.453-15634G>A - IntronicSNV - 1/7 1
6-152149435-T-C c.453-14297T>C - IntronicSNV - 1/7 2
6-152149872-C-T c.453-13860C>T - IntronicSNV - 1/7 4
6-152151184-A-G c.453-12548A>G - IntronicSNV - 1/7 1
6-152151863-T-C c.453-11869T>C - IntronicSNV - 1/7 4
6-152151863-T-A c.453-11869T>A - IntronicSNV - 1/7 4
6-152151925-T-G c.453-11807T>G - IntronicSNV - 1/7 2
6-152151965-G-A c.453-11767G>A - IntronicSNV - 1/7 1
6-152152988-A-G c.453-10744A>G - IntronicSNV - 1/7 1
6-152152988-A-C c.453-10744A>C - IntronicSNV - 1/7 1
6-152153156-G-A c.453-10576G>A - IntronicSNV - 1/7 1
6-152153697-G-A c.453-10035G>A - IntronicSNV - 1/7 2
6-152153964-T-C c.453-9768T>C - IntronicSNV - 1/7 2
6-152156197-G-A c.453-7535G>A - IntronicSNV - 1/7 2
6-152157122-G-A c.453-6610G>A - IntronicSNV - 1/7 11
6-152157329-A-G c.453-6403A>G - IntronicSNV - 1/7 1
6-152157881-C-T c.453-5851C>T - IntronicSNV - 1/7 11
6-152158090-G-A c.453-5642G>A - IntronicSNV - 1/7 1
6-152158847-A-G c.453-4885A>G - IntronicSNV - 1/7 1
6-152159900-T-G c.453-3832T>G - IntronicSNV - 1/7 7
6-152160756-A-G c.453-2976A>G - IntronicSNV - 1/7 2
6-152161066-G-A c.453-2666G>A - IntronicSNV - 1/7 1
6-152162227-G-A c.453-1505G>A - IntronicSNV - 1/7 6
6-152162227-G-T c.453-1505G>T - IntronicSNV - 1/7 6
6-152162317-C-G c.453-1415C>G - IntronicSNV - 1/7 11
6-152162317-C-T c.453-1415C>T - IntronicSNV - 1/7 11
6-152163334-C-A c.453-398C>A - IntronicSNV - 1/7 4
6-152163334-C-T c.453-398C>T - IntronicSNV - 1/7 4
6-152163335-T-C c.453-397T>C - IntronicSNV - 1/7 255
6-152163378-T-A c.453-354T>A - IntronicSNV - 1/7 2
6-152163378-T-C c.453-354T>C - IntronicSNV - 1/7 2
6-152163381-A-G c.453-351A>G - IntronicSNV - 1/7 212
6-152163737-A-G c.458A>G p.Asn153Ser Missense 2/8 - 1
6-152163739-T-G c.460T>G p.Ser154Ala Missense 2/8 - 1
6-152163740-C-T c.461C>T p.Ser154Leu Missense 2/8 - 1
6-152163748-C-T c.469C>T p.Arg157* Nonsense 2/8 - 4
6-152163763-AG-GC c.484_485delinsGC p.Arg162Ala Missense 2/8 - 1
6-152163778-AGT-GAG c.499_501delinsGAG p.Ser167Glu Missense 2/8 - 1
6-152163778-AG-GC c.499_500delinsGC p.Ser167Ala Missense 2/8 - 2
6-152163781-A-T c.502A>T p.Thr168Ser Missense 2/8 - 1
6-152163857-C-T c.578C>T p.Ser193Leu Missense 2/8 - 1
6-152163863-A-T c.584A>T p.Tyr195Phe Missense 2/8 - 1
6-152163869-A-T c.590A>T p.Tyr197Phe Missense 2/8 - 1
6-152163879-G-C c.600G>C p.Trp200Cys Missense 2/8 - 1
6-152163883-T-C c.604T>C p.Cys202Arg Missense 2/8 - 1
6-152163887-A-C c.608A>C p.Glu203Ala Missense 2/8 - 2
6-152163890-G-C c.611G>C p.Gly204Ala Missense 2/8 - 1
6-152163896-A-G c.617A>G p.Lys206Arg Missense 2/8 - 1
6-152163907-AA-GC c.628_629delinsGC p.Lys210Ala Missense 2/8 - 1
6-152163913-A-T c.634A>T p.Ser212Cys Missense 2/8 - 1
6-152163915-T-G c.636T>G p.Ser212Arg Missense 2/8 - 1
6-152163915-T-A c.636T>A p.Ser212Arg Missense 2/8 - 1
6-152163913-A-C c.634A>C p.Ser212Arg Missense 2/8 - 1
6-152163967-A-G c.643+45A>G - IntronicSNV - 2/7 2
6-152163985-C-T c.643+63C>T - IntronicSNV - 2/7 1
6-152164005-A-G c.643+83A>G - IntronicSNV - 2/7 1
6-152164239-C-T c.643+317C>T - IntronicSNV - 2/7 4
6-152166801-C-A c.643+2879C>A - IntronicSNV - 2/7 2
6-152167311-G-A c.643+3389G>A - IntronicSNV - 2/7 3
6-152168456-A-C c.643+4534A>C - IntronicSNV - 2/7 1
6-152168456-A-T c.643+4534A>T - IntronicSNV - 2/7 1
6-152168456-A-G c.643+4534A>G - IntronicSNV - 2/7 1
6-152171898-A-G c.643+7976A>G - IntronicSNV - 2/7 1
6-152175180-T-C c.643+11258T>C - IntronicSNV - 2/7 3
6-152175357-T-C c.643+11435T>C - IntronicSNV - 2/7 5
6-152175825-T-G c.643+11903T>G - IntronicSNV - 2/7 1
6-152177529-G-A c.643+13607G>A - IntronicSNV - 2/7 1
6-152177663-A-T c.643+13741A>T - IntronicSNV - 2/7 1
6-152177663-A-C c.643+13741A>C - IntronicSNV - 2/7 1
6-152179332-G-C c.643+15410G>C - IntronicSNV - 2/7 2
6-152180241-A-T c.643+16319A>T - IntronicSNV - 2/7 8
6-152180596-A-G c.643+16674A>G - IntronicSNV - 2/7 1
6-152182315-T-G c.643+18393T>G - IntronicSNV - 2/7 9
6-152182917-T-C c.644-18873T>C - IntronicSNV - 2/7 1
6-152182917-T-A c.644-18873T>A - IntronicSNV - 2/7 1
6-152183551-G-A c.644-18239G>A - IntronicSNV - 2/7 7
6-152188995-G-T c.644-12795G>T - IntronicSNV - 2/7 2
6-152188995-G-A c.644-12795G>A - IntronicSNV - 2/7 2
6-152190476-G-A c.644-11314G>A - IntronicSNV - 2/7 1
6-152192331-G-T c.644-9459G>T - IntronicSNV - 2/7 2
6-152192331-G-C c.644-9459G>C - IntronicSNV - 2/7 2
6-152193996-C-T c.644-7794C>T - IntronicSNV - 2/7 12
6-152195034-G-A c.644-6756G>A - IntronicSNV - 2/7 3
6-152196952-C-G c.644-4838C>G - IntronicSNV - 2/7 5
6-152196952-C-T c.644-4838C>T - IntronicSNV - 2/7 5
6-152199359-T-C c.644-2431T>C - IntronicSNV - 2/7 8
6-152199431-T-G c.644-2359T>G - IntronicSNV - 2/7 1
6-152199931-G-A c.644-1859G>A - IntronicSNV - 2/7 5
6-152200129-T-C c.644-1661T>C - IntronicSNV - 2/7 9
6-152200363-C-T c.644-1427C>T - IntronicSNV - 2/7 1
6-152200363-C-G c.644-1427C>G - IntronicSNV - 2/7 1
6-152200430-C-T c.644-1360C>T - IntronicSNV - 2/7 12
6-152200749-G-A c.644-1041G>A - IntronicSNV - 2/7 1
6-152201624-G-A c.644-166G>A - IntronicSNV - 2/7 3
6-152201813-G-C c.667G>C p.Ala223Pro Missense 3/8 - 1
6-152201828-AC-TG c.682_683delinsTG p.Thr228Cys Missense 3/8 - 1
6-152201843-AG-CA c.697_698delinsCA p.Arg233Gln Missense 3/8 - 1
6-152201852-AGC-TGA c.706_708delinsTGA p.Ser236* Nonsense 3/8 - 1
6-152201864-TG-GC c.718_719delinsGC p.Cys240Ala Missense 3/8 - 1
6-152201870-C-G c.724C>G p.Leu242Val Missense 3/8 - 1
6-152201873-C-T c.727C>T p.Arg243Cys Missense 3/8 - 1
6-152201875-T-C c.729T>C p.Arg243Arg Synonymous 3/8 - 6
6-152201875-T-A c.729T>A p.Arg243Arg Synonymous 3/8 - 6
6-152201875-T-G c.729T>G p.Arg243Arg Synonymous 3/8 - 6
6-152201884-C-T c.738C>T p.Tyr246Tyr Synonymous 3/8 - 1
6-152201888-G-A c.742G>A p.Val248Met Missense 3/8 - 1
6-152203104-A-G c.760+1198A>G - IntronicSNV - 3/7 4
6-152203279-C-G c.760+1373C>G - IntronicSNV - 3/7 1
6-152203279-C-T c.760+1373C>T - IntronicSNV - 3/7 1
6-152204210-A-G c.760+2304A>G - IntronicSNV - 3/7 3
6-152208722-A-G c.760+6816A>G - IntronicSNV - 3/7 5
6-152212508-T-C c.760+10602T>C - IntronicSNV - 3/7 6
6-152218079-A-T c.760+16173A>T - IntronicSNV - 3/7 1
6-152218079-A-G c.760+16173A>G - IntronicSNV - 3/7 1
6-152226344-A-C c.760+24438A>C - IntronicSNV - 3/7 1
6-152227421-C-A c.760+25515C>A - IntronicSNV - 3/7 5
6-152229445-T-A c.760+27539T>A - IntronicSNV - 3/7 2
6-152229445-T-C c.760+27539T>C - IntronicSNV - 3/7 2
6-152229850-G-A c.760+27944G>A - IntronicSNV - 3/7 19
6-152234593-T-C c.761-30715T>C - IntronicSNV - 3/7 10
6-152234593-T-A c.761-30715T>A - IntronicSNV - 3/7 10
6-152234900-A-G c.761-30408A>G - IntronicSNV - 3/7 3
6-152235339-C-T c.761-29969C>T - IntronicSNV - 3/7 1
6-152236879-G-A c.761-28429G>A - IntronicSNV - 3/7 4
6-152237468-T-C c.761-27840T>C - IntronicSNV - 3/7 7
6-152237618-G-T c.761-27690G>T - IntronicSNV - 3/7 6
6-152237759-A-G c.761-27549A>G - IntronicSNV - 3/7 1
6-152238135-G-T c.761-27173G>T - IntronicSNV - 3/7 1
6-152240423-A-G c.761-24885A>G - IntronicSNV - 3/7 2
6-152240448-A-G c.761-24860A>G - IntronicSNV - 3/7 1
6-152241150-T-C c.761-24158T>C - IntronicSNV - 3/7 7
6-152247152-A-T c.761-18156A>T - IntronicSNV - 3/7 6
6-152247152-A-G c.761-18156A>G - IntronicSNV - 3/7 6
6-152251080-C-A c.761-14228C>A - IntronicSNV - 3/7 3
6-152251568-T-C c.761-13740T>C - IntronicSNV - 3/7 1
6-152256495-A-C c.761-8813A>C - IntronicSNV - 3/7 1
6-152257687-T-G c.761-7621T>G - IntronicSNV - 3/7 5
6-152259934-C-T c.761-5374C>T - IntronicSNV - 3/7 1
6-152259934-C-A c.761-5374C>A - IntronicSNV - 3/7 1
6-152260206-G-A c.761-5102G>A - IntronicSNV - 3/7 5
6-152260642-T-A c.761-4666T>A - IntronicSNV - 3/7 3
6-152260668-A-G c.761-4640A>G - IntronicSNV - 3/7 3
6-152262113-A-T c.761-3195A>T - IntronicSNV - 3/7 2
6-152262113-A-G c.761-3195A>G - IntronicSNV - 3/7 2
6-152263360-A-G c.761-1948A>G - IntronicSNV - 3/7 1
6-152263380-C-T c.761-1928C>T - IntronicSNV - 3/7 1
6-152265253-A-T c.761-55A>T - IntronicSNV - 3/7 1
6-152265325-AGA-TGT c.778_780delinsTGT p.Arg260Cys Missense 4/8 - 1
6-152265325-AGA-CAT c.778_780delinsCAT p.Arg260His Missense 4/8 - 1
6-152265325-AG-GC c.778_779delinsGC p.Arg260Ala Missense 4/8 - 1
6-152265326-GA-TG c.779_780delinsTG p.Arg260Met Missense 4/8 - 1
6-152265339-G-A c.792G>A p.Met264Ile Missense 4/8 - 1
6-152265339-G-C c.792G>C p.Met264Ile Missense 4/8 - 1
6-152265339-G-T c.792G>T p.Met264Ile Missense 4/8 - 1
6-152265352-C-T c.805C>T p.Arg269Cys Missense 4/8 - 3
6-152265371-A-C c.824A>C p.Glu275Ala Missense 4/8 - 1
6-152265373-GG-AC c.826_827delinsAC p.Gly276Thr Missense 4/8 - 1
6-152265391-T-G c.844T>G p.Ser282Ala Missense 4/8 - 1
6-152265409-GC-TG c.862_863delinsTG p.Ala288Cys Missense 4/8 - 1
6-152265415-A-G c.868A>G p.Asn290Asp Missense 4/8 - 1
6-152265427-AG-GA c.880_881delinsGA p.Ser294Asp Missense 4/8 - 1
6-152265427-AG-GC c.880_881delinsGC p.Ser294Ala Missense 4/8 - 5
6-152265440-T-A c.893T>A p.Ile298Asn Missense 4/8 - 1
6-152265455-A-G c.908A>G p.Lys303Arg Missense 4/8 - 22
6-152265460-AGC-GAG c.913_915delinsGAG p.Ser305Glu Missense 4/8 - 1
6-152265460-AG-CC c.913_914delinsCC p.Ser305Pro Missense 4/8 - 1
6-152265460-AG-GC c.913_914delinsGC p.Ser305Ala Missense 4/8 - 2
6-152265479-C-T c.932C>T p.Thr311Met Missense 4/8 - 1
6-152265482-C-T c.935C>T p.Ala312Val Missense 4/8 - 1
6-152265515-A-C c.968A>C p.Glu323Ala Missense 4/8 - 1
6-152265520-C-G c.973C>G p.Pro325Ala Missense 4/8 - 1
6-152265522-G-T c.975G>T p.Pro325Pro Synonymous 4/8 - 14
6-152265522-G-C c.975G>C p.Pro325Pro Synonymous 4/8 - 77
6-152265522-G-A c.975G>A p.Pro325Pro Synonymous 4/8 - 14
6-152265523-AT-GC c.976_977delinsGC p.Ile326Ala Missense 4/8 - 1
6-152265526-CT-GC c.979_980delinsGC p.Leu327Ala Missense 4/8 - 1
6-152265529-TA-GC c.982_983delinsGC p.Tyr328Ala Missense 4/8 - 1
6-152265556-T-A c.1009T>A p.Phe337Ile Missense 4/8 - 1
6-152265577-GGC-TGA c.1030_1032delinsTGA p.Gly344* Nonsense 4/8 - 1
6-152265577-G-A c.1030G>A p.Gly344Ser Missense 4/8 - 1
6-152265595-G-A c.1048G>A p.Ala350Thr Missense 4/8 - 1
6-152265598-G-T c.1051G>T p.Asp351Tyr Missense 4/8 - 3
6-152265599-A-G c.1052A>G p.Asp351Gly Missense 4/8 - 3
6-152265605-A-C c.1058A>C p.Glu353Ala Missense 4/8 - 1
6-152265607-C-A c.1060C>A p.Leu354Met Missense 4/8 - 1
6-152265610-G-A c.1063G>A p.Val355Ile Missense 4/8 - 1
6-152265613-CA-GC c.1066_1067delinsGC p.His356Ala Missense 4/8 - 1
6-152265616-A-T c.1069A>T p.Met357Leu Missense 4/8 - 2
6-152265616-A-C c.1069A>C p.Met357Leu Missense 4/8 - 2
6-152265634-GAGGGTGCCAGGTAAGAATGCGAAGCGCAGCTTTTAAGAGTCAATAGCTTTTCAAGAACT-G c.1087_1096+49del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 4/8 4/7 1
6-152265659-G-A c.1096+16G>A - IntronicSNV - 4/7 7
6-152266377-A-C c.1096+734A>C - IntronicSNV - 4/7 3
6-152266468-G-A c.1096+825G>A - IntronicSNV - 4/7 4
6-152268250-C-T c.1096+2607C>T - IntronicSNV - 4/7 1
6-152268483-T-C c.1096+2840T>C - IntronicSNV - 4/7 1
6-152268540-T-A c.1096+2897T>A - IntronicSNV - 4/7 1
6-152270364-A-G c.1096+4721A>G - IntronicSNV - 4/7 1
6-152270672-C-T c.1096+5029C>T - IntronicSNV - 4/7 49
6-152270672-C-G c.1096+5029C>G - IntronicSNV - 4/7 49
6-152271827-A-G c.1096+6184A>G - IntronicSNV - 4/7 1
6-152272233-T-C c.1096+6590T>C - IntronicSNV - 4/7 1
6-152272398-G-A c.1096+6755G>A - IntronicSNV - 4/7 13
6-152274190-G-T c.1096+8547G>T - IntronicSNV - 4/7 1
6-152274190-G-A c.1096+8547G>A - IntronicSNV - 4/7 1
6-152276458-A-G c.1096+10815A>G - IntronicSNV - 4/7 3
6-152278318-T-C c.1096+12675T>C - IntronicSNV - 4/7 1
6-152278741-C-T c.1096+13098C>T - IntronicSNV - 4/7 7
6-152278885-G-A c.1096+13242G>A - IntronicSNV - 4/7 1
6-152279213-G-A c.1096+13570G>A - IntronicSNV - 4/7 6
6-152279514-T-C c.1096+13871T>C - IntronicSNV - 4/7 1
6-152279667-G-T c.1096+14024G>T - IntronicSNV - 4/7 2
6-152279667-G-C c.1096+14024G>C - IntronicSNV - 4/7 2
6-152279691-T-C c.1096+14048T>C - IntronicSNV - 4/7 1
6-152279878-G-A c.1096+14235G>A - IntronicSNV - 4/7 7
6-152280553-A-C c.1096+14910A>C - IntronicSNV - 4/7 1
6-152282325-T-C c.1096+16682T>C - IntronicSNV - 4/7 3
6-152282325-T-A c.1096+16682T>A - IntronicSNV - 4/7 3
6-152282546-G-A c.1096+16903G>A - IntronicSNV - 4/7 3
6-152283044-G-A c.1096+17401G>A - IntronicSNV - 4/7 8
6-152283279-G-A c.1096+17636G>A - IntronicSNV - 4/7 22
6-152283458-A-C c.1096+17815A>C - IntronicSNV - 4/7 3
6-152283458-A-G c.1096+17815A>G - IntronicSNV - 4/7 3
6-152283478-A-C c.1096+17835A>C - IntronicSNV - 4/7 3
6-152284458-G-A c.1096+18815G>A - IntronicSNV - 4/7 4
6-152284821-T-A c.1096+19178T>A - IntronicSNV - 4/7 2
6-152284821-T-C c.1096+19178T>C - IntronicSNV - 4/7 2
6-152284928-G-A c.1096+19285G>A - IntronicSNV - 4/7 1
6-152285152-C-T c.1096+19509C>T - IntronicSNV - 4/7 1
6-152285687-G-T c.1096+20044G>T - IntronicSNV - 4/7 1
6-152286443-A-G c.1096+20800A>G - IntronicSNV - 4/7 1
6-152286625-T-C c.1096+20982T>C - IntronicSNV - 4/7 6
6-152286625-T-A c.1096+20982T>A - IntronicSNV - 4/7 6
6-152286705-C-T c.1096+21062C>T - IntronicSNV - 4/7 4
6-152287083-C-T c.1096+21440C>T - IntronicSNV - 4/7 1
6-152287295-C-A c.1096+21652C>A - IntronicSNV - 4/7 2
6-152287367-T-C c.1096+21724T>C - IntronicSNV - 4/7 4
6-152288241-T-G c.1096+22598T>G - IntronicSNV - 4/7 1
6-152289770-T-C c.1096+24127T>C - IntronicSNV - 4/7 3
6-152290746-C-A c.1096+25103C>A - IntronicSNV - 4/7 1
6-152290746-C-T c.1096+25103C>T - IntronicSNV - 4/7 1
6-152291366-G-C c.1096+25723G>C - IntronicSNV - 4/7 6
6-152291466-C-T c.1096+25823C>T - IntronicSNV - 4/7 2
6-152291566-C-A c.1096+25923C>A - IntronicSNV - 4/7 7
6-152292660-G-A c.1096+27017G>A - IntronicSNV - 4/7 1
6-152293905-G-A c.1096+28262G>A - IntronicSNV - 4/7 2
6-152295613-G-C c.1096+29970G>C - IntronicSNV - 4/7 10
6-152295715-G-C c.1096+30072G>C - IntronicSNV - 4/7 1
6-152296418-G-A c.1096+30775G>A - IntronicSNV - 4/7 1
6-152296986-A-G c.1096+31343A>G - IntronicSNV - 4/7 2
6-152297100-A-G c.1096+31457A>G - IntronicSNV - 4/7 3
6-152297100-A-T c.1096+31457A>T - IntronicSNV - 4/7 3
6-152298435-C-T c.1096+32792C>T - IntronicSNV - 4/7 4
6-152299889-T-C c.1097-32902T>C - IntronicSNV - 4/7 3
6-152299953-C-T c.1097-32838C>T - IntronicSNV - 4/7 1
6-152299969-C-G c.1097-32822C>G - IntronicSNV - 4/7 1
6-152300627-C-A c.1097-32164C>A - IntronicSNV - 4/7 1
6-152301645-A-G c.1097-31146A>G - IntronicSNV - 4/7 4
6-152302212-A-G c.1097-30579A>G - IntronicSNV - 4/7 1
6-152302578-G-A c.1097-30213G>A - IntronicSNV - 4/7 12
6-152302654-A-C c.1097-30137A>C - IntronicSNV - 4/7 4
6-152303009-G-A c.1097-29782G>A - IntronicSNV - 4/7 1
6-152303009-G-C c.1097-29782G>C - IntronicSNV - 4/7 1
6-152303437-A-T c.1097-29354A>T - IntronicSNV - 4/7 7
6-152303437-A-G c.1097-29354A>G - IntronicSNV - 4/7 7
6-152304328-C-T c.1097-28463C>T - IntronicSNV - 4/7 4
6-152304596-A-G c.1097-28195A>G - IntronicSNV - 4/7 6
6-152305047-A-C c.1097-27744A>C - IntronicSNV - 4/7 6
6-152305505-C-A c.1097-27286C>A - IntronicSNV - 4/7 1
6-152305505-C-T c.1097-27286C>T - IntronicSNV - 4/7 1
6-152306204-A-C c.1097-26587A>C - IntronicSNV - 4/7 3
6-152306204-A-T c.1097-26587A>T - IntronicSNV - 4/7 3
6-152306204-A-G c.1097-26587A>G - IntronicSNV - 4/7 3
6-152306346-A-G c.1097-26445A>G - IntronicSNV - 4/7 2
6-152307004-C-T c.1097-25787C>T - IntronicSNV - 4/7 1
6-152307261-G-A c.1097-25530G>A - IntronicSNV - 4/7 8
6-152307706-T-C c.1097-25085T>C - IntronicSNV - 4/7 4
6-152307706-T-A c.1097-25085T>A - IntronicSNV - 4/7 4
6-152308973-G-T c.1097-23818G>T - IntronicSNV - 4/7 1
6-152308973-G-C c.1097-23818G>C - IntronicSNV - 4/7 1
6-152309132-T-G c.1097-23659T>G - IntronicSNV - 4/7 1
6-152309132-T-A c.1097-23659T>A - IntronicSNV - 4/7 1
6-152310007-C-T c.1097-22784C>T - IntronicSNV - 4/7 2
6-152311537-T-A c.1097-21254T>A - IntronicSNV - 4/7 4
6-152312415-A-T c.1097-20376A>T - IntronicSNV - 4/7 1
6-152313146-C-T c.1097-19645C>T - IntronicSNV - 4/7 2
6-152316747-T-C c.1097-16044T>C - IntronicSNV - 4/7 1
6-152317140-T-A c.1097-15651T>A - IntronicSNV - 4/7 8
6-152320172-T-G c.1097-12619T>G - IntronicSNV - 4/7 7
6-152320172-T-A c.1097-12619T>A - IntronicSNV - 4/7 7
6-152322885-A-G c.1097-9906A>G - IntronicSNV - 4/7 15
6-152323192-G-A c.1097-9599G>A - IntronicSNV - 4/7 2
6-152325504-T-G c.1097-7287T>G - IntronicSNV - 4/7 1
6-152328616-T-C c.1097-4175T>C - IntronicSNV - 4/7 6
6-152330673-C-T c.1097-2118C>T - IntronicSNV - 4/7 4
6-152332130-T-C c.1097-661T>C - IntronicSNV - 4/7 3
6-152332696-A-G c.1097-95A>G - IntronicSNV - 4/7 1
6-152332808-CT-AG c.1114_1115inv p.Leu372Ser Missense 5/8 - 3
6-152332809-T-C c.1115T>C p.Leu372Pro Missense 5/8 - 1
6-152332809-T-G c.1115T>G p.Leu372Arg Missense 5/8 - 1
6-152332810-C-G c.1116C>G p.Leu372Leu Synonymous 5/8 - 1
6-152332819-G-T c.1125G>T p.Gln375His Missense 5/8 - 3
6-152332832-GAA-TAT c.1138_1140delinsTAT p.Glu380Tyr Missense 5/8 - 1
6-152332832-G-C c.1138G>C p.Glu380Gln Missense 5/8 - 63
6-152332835-T-A c.1141T>A p.Cys381Ser Missense 5/8 - 1
6-152332836-G-C c.1142G>C p.Cys381Ser Missense 5/8 - 1
6-152332844-CTA-ATG c.1150_1152delinsATG p.Leu384Met Missense 5/8 - 1
6-152332850-AT-GC c.1156_1157delinsGC p.Ile386Ala Missense 5/8 - 1
6-152332853-CT-GC c.1159_1160delinsGC p.Leu387Ala Missense 5/8 - 1
6-152332868-G-A c.1174G>A p.Val392Ile Missense 5/8 - 3
6-152332871-TG-GC c.1177_1178delinsGC p.Trp393Ala Missense 5/8 - 1
6-152332874-C-A c.1180C>A p.Arg394Ser Missense 5/8 - 1
6-152332874-C-T c.1180C>T p.Arg394Cys Missense 5/8 - 1
6-152332874-CG-GC c.1180_1181delinsGC p.Arg394Ala Missense 5/8 - 1
6-152332875-G-A c.1181G>A p.Arg394His Missense 5/8 - 4
6-152332919-C-A c.1225C>A p.Leu409Ile Missense 5/8 - 1
6-152333104-G-A c.1235+175G>A - IntronicSNV - 5/7 1
6-152333945-G-A c.1235+1016G>A - IntronicSNV - 5/7 1
6-152339615-A-G c.1235+6686A>G - IntronicSNV - 5/7 3
6-152340288-T-C c.1235+7359T>C - IntronicSNV - 5/7 2
6-152342779-G-C c.1235+9850G>C - IntronicSNV - 5/7 1
6-152343763-A-G c.1235+10834A>G - IntronicSNV - 5/7 4
6-152345162-G-A c.1235+12233G>A - IntronicSNV - 5/7 3
6-152347858-G-C c.1235+14929G>C - IntronicSNV - 5/7 1
6-152348758-G-A c.1235+15829G>A - IntronicSNV - 5/7 2
6-152348901-G-A c.1235+15972G>A - IntronicSNV - 5/7 1
6-152355782-C-A c.1235+22853C>A - IntronicSNV - 5/7 1
6-152355920-G-A c.1235+22991G>A - IntronicSNV - 5/7 1
6-152356187-A-G c.1235+23258A>G - IntronicSNV - 5/7 1
6-152356187-A-T c.1235+23258A>T - IntronicSNV - 5/7 1
6-152357927-A-G c.1236-24199A>G - IntronicSNV - 5/7 2
6-152357927-A-T c.1236-24199A>T - IntronicSNV - 5/7 2
6-152358179-T-C c.1236-23947T>C - IntronicSNV - 5/7 5
6-152358940-C-T c.1236-23186C>T - IntronicSNV - 5/7 4
6-152359331-G-A c.1236-22795G>A - IntronicSNV - 5/7 1
6-152360720-C-A c.1236-21406C>A - IntronicSNV - 5/7 1
6-152365948-T-C c.1236-16178T>C - IntronicSNV - 5/7 1
6-152367118-A-G c.1236-15008A>G - IntronicSNV - 5/7 3
6-152367118-A-T c.1236-15008A>T - IntronicSNV - 5/7 3
6-152367993-G-C c.1236-14133G>C - IntronicSNV - 5/7 1
6-152367993-G-A c.1236-14133G>A - IntronicSNV - 5/7 1
6-152367993-G-T c.1236-14133G>T - IntronicSNV - 5/7 1
6-152368154-G-A c.1236-13972G>A - IntronicSNV - 5/7 1
6-152368758-T-C c.1236-13368T>C - IntronicSNV - 5/7 1
6-152370248-C-G c.1236-11878C>G - IntronicSNV - 5/7 1
6-152370936-G-A c.1236-11190G>A - IntronicSNV - 5/7 1
6-152371190-C-T c.1236-10936C>T - IntronicSNV - 5/7 7
6-152371190-C-A c.1236-10936C>A - IntronicSNV - 5/7 7
6-152371391-T-C c.1236-10735T>C - IntronicSNV - 5/7 2
6-152373238-G-A c.1236-8888G>A - IntronicSNV - 5/7 1
6-152374532-T-C c.1236-7594T>C - IntronicSNV - 5/7 1
6-152376182-G-C c.1236-5944G>C - IntronicSNV - 5/7 2
6-152376475-G-A c.1236-5651G>A - IntronicSNV - 5/7 1
6-152376524-G-A c.1236-5602G>A - IntronicSNV - 5/7 4
6-152377180-G-A c.1236-4946G>A - IntronicSNV - 5/7 1
6-152378112-C-T c.1236-4014C>T - IntronicSNV - 5/7 1
6-152381998-T-C c.1236-128T>C - IntronicSNV - 5/7 2
6-152382014-A-G c.1236-112A>G - IntronicSNV - 5/7 1
6-152382088-TTTTT-TTTTTTTTTT c.1236-38_1236-34dup - IntronicInsertion - 5/7 4
6-152382092-T-TT c.1236-34dup - IntronicInsertion - 5/7 4
6-152382126-G-T c.1236G>T p.Arg412Ser Missense 6/8 - 1
6-152382134-G-A c.1244G>A p.Gly415Glu Missense 6/8 - 1
6-152382139-T-A c.1249T>A p.Cys417Ser Missense 6/8 - 1
6-152382140-G-C c.1250G>C p.Cys417Ser Missense 6/8 - 1
6-152382146-A-T c.1256A>T p.Glu419Val Missense 6/8 - 1
6-152382153-G-C c.1263G>C p.Met421Ile Missense 6/8 - 1
6-152382153-G-A c.1263G>A p.Met421Ile Missense 6/8 - 1
6-152382153-G-T c.1263G>T p.Met421Ile Missense 6/8 - 1
6-152382155-GTGG-G c.1265_1267del p.Val422del InFrameDeletion 6/8 - 7
6-152382171-G-C c.1281G>C p.Met427Ile Missense 6/8 - 1
6-152382171-G-A c.1281G>A p.Met427Ile Missense 6/8 - 1
6-152382171-G-T c.1281G>T p.Met427Ile Missense 6/8 - 1
6-152382175-C-G c.1285C>G p.Leu429Val Missense 6/8 - 1
6-152382182-C-T c.1292C>T p.Thr431Ile Missense 6/8 - 1
6-152382185-C-T c.1295C>T p.Ser432Leu Missense 6/8 - 2
6-152382229-TG-GC c.1339_1340delinsGC p.Cys447Ala Missense 6/8 - 2
6-152382235-AA-GC c.1345_1346delinsGC p.Lys449Ala Missense 6/8 - 1
6-152382236-A-G c.1346A>G p.Lys449Arg Missense 6/8 - 1
6-152382238-TC-GA c.1348_1349inv p.Ser450Asp Missense 6/8 - 1
6-152382250-C-A c.1360C>A p.Leu454Ile Missense 6/8 - 1
6-152382311-G-T c.1369+52G>T - IntronicSNV - 6/7 8
6-152382325-A-G c.1369+66A>G - IntronicSNV - 6/7 4
6-152382382-G-A c.1369+123G>A - IntronicSNV - 6/7 6
6-152382420-A-G c.1369+161A>G - IntronicSNV - 6/7 3
6-152382688-A-C c.1369+429A>C - IntronicSNV - 6/7 1
6-152382917-T-C c.1369+658T>C - IntronicSNV - 6/7 2
6-152383383-G-A c.1369+1124G>A - IntronicSNV - 6/7 1
6-152383820-C-T c.1369+1561C>T - IntronicSNV - 6/7 4
6-152384229-A-G c.1369+1970A>G - IntronicSNV - 6/7 1
6-152384800-T-C c.1369+2541T>C - IntronicSNV - 6/7 1
6-152384800-T-A c.1369+2541T>A - IntronicSNV - 6/7 1
6-152387664-G-A c.1369+5405G>A - IntronicSNV - 6/7 5
6-152388444-G-A c.1369+6185G>A - IntronicSNV - 6/7 2
6-152389362-A-G c.1369+7103A>G - IntronicSNV - 6/7 6
6-152389968-A-C c.1369+7709A>C - IntronicSNV - 6/7 1
6-152389999-A-G c.1369+7740A>G - IntronicSNV - 6/7 2
6-152390338-G-A c.1369+8079G>A - IntronicSNV - 6/7 1
6-152392598-G-C c.1369+10339G>C - IntronicSNV - 6/7 1
6-152393112-A-G c.1369+10853A>G - IntronicSNV - 6/7 1
6-152393160-T-G c.1369+10901T>G - IntronicSNV - 6/7 1
6-152393160-T-A c.1369+10901T>A - IntronicSNV - 6/7 1
6-152393761-G-A c.1369+11502G>A - IntronicSNV - 6/7 3
6-152394934-C-T c.1369+12675C>T - IntronicSNV - 6/7 1
6-152396036-T-G c.1369+13777T>G - IntronicSNV - 6/7 6
6-152396036-T-A c.1369+13777T>A - IntronicSNV - 6/7 6
6-152397912-A-AC c.1369+15653_1369+15654insC - IntronicInsertion - 6/7 2
6-152399493-C-T c.1370-16027C>T - IntronicSNV - 6/7 4
6-152399625-G-A c.1370-15895G>A - IntronicSNV - 6/7 1
6-152399625-G-T c.1370-15895G>T - IntronicSNV - 6/7 1
6-152405965-C-T c.1370-9555C>T - IntronicSNV - 6/7 2
6-152408028-C-T c.1370-7492C>T - IntronicSNV - 6/7 2
6-152408126-G-A c.1370-7394G>A - IntronicSNV - 6/7 3
6-152408649-C-T c.1370-6871C>T - IntronicSNV - 6/7 1
6-152412137-T-C c.1370-3383T>C - IntronicSNV - 6/7 2
6-152412904-G-T c.1370-2616G>T - IntronicSNV - 6/7 2
6-152415494-C-G c.1370-26C>G - IntronicSNV - 6/7 1
6-152415537-T-C c.1387T>C p.Ser463Pro Missense 7/8 - 27
6-152415540-AG-GC c.1390_1391delinsGC p.Ser464Ala Missense 7/8 - 1
6-152415555-C-G c.1405C>G p.Leu469Val Missense 7/8 - 1
6-152415576-CA-GC c.1426_1427delinsGC p.His476Ala Missense 7/8 - 1
6-152415588-G-A c.1438G>A p.Asp480Asn Missense 7/8 - 1
6-152415593-G-T c.1443G>T p.Lys481Asn Missense 7/8 - 1
6-152415593-G-C c.1443G>C p.Lys481Asn Missense 7/8 - 1
6-152415598-C-T c.1448C>T p.Thr483Ile Missense 7/8 - 1
6-152415612-C-T c.1462C>T p.His488Tyr Missense 7/8 - 1
6-152415619-T-G c.1469T>G p.Met490Arg Missense 7/8 - 1
6-152415627-GCA-TGT c.1477_1479delinsTGT p.Ala493Cys Missense 7/8 - 1
6-152415628-C-T c.1478C>T p.Ala493Val Missense 7/8 - 1
6-152415657-C-T c.1507C>T p.Arg503Trp Missense 7/8 - 2
6-152415658-G-A c.1508G>A p.Arg503Gln Missense 7/8 - 1
6-152415669-CT-GC c.1519_1520delinsGC p.Leu507Ala Missense 7/8 - 1
6-152415675-CT-GC c.1525_1526delinsGC p.Leu509Ala Missense 7/8 - 1
6-152415702-AG-GC c.1552_1553delinsGC p.Ser518Ala Missense 7/8 - 1
6-152415800-G-A c.1553+97G>A - IntronicSNV - 7/7 1
6-152416625-A-G c.1553+922A>G - IntronicSNV - 7/7 1
6-152416779-G-T c.1553+1076G>T - IntronicSNV - 7/7 3
6-152416779-G-C c.1553+1076G>C - IntronicSNV - 7/7 3
6-152418575-T-C c.1554-1292T>C - IntronicSNV - 7/7 10
6-152418575-T-A c.1554-1292T>A - IntronicSNV - 7/7 10
6-152419190-C-G c.1554-677C>G - IntronicSNV - 7/7 1
6-152419526-G-A c.1554-341G>A - IntronicSNV - 7/7 2
6-152419874-G-C c.1561G>C p.Gly521Arg Missense 8/8 - 2
6-152419880-G-C c.1567G>C p.Glu523Gln Missense 8/8 - 1
6-152419881-A-C c.1568A>C p.Glu523Ala Missense 8/8 - 1
6-152419883-CAT-GAG c.1570_1572delinsGAG p.His524Glu Missense 8/8 - 1
6-152419883-CA-GC c.1570_1571delinsGC p.His524Ala Missense 8/8 - 1
6-152419886-CT-GC c.1573_1574delinsGC p.Leu525Ala Missense 8/8 - 1
6-152419902-G-C c.1589G>C p.Cys530Ser Missense 8/8 - 1
6-152419901-T-A c.1588T>A p.Cys530Ser Missense 8/8 - 1
6-152419904-A-G c.1591A>G p.Lys531Glu Missense 8/8 - 2
6-152419910-G-A c.1597G>A p.Val533Met Missense 8/8 - 3
6-152419914-T-A c.1601T>A p.Val534Glu Missense 8/8 - 10
6-152419916-C-T c.1603C>T p.Pro535Ser Missense 8/8 - 1
6-152419917-C-A c.1604C>A p.Pro535His Missense 8/8 - 11
6-152419919-CT-AA c.1606_1607delinsAA p.Leu536Asn Missense 8/8 - 1
6-152419919-CT-AG c.1606_1607inv p.Leu536Ser Missense 8/8 - 1
6-152419919-C-T c.1606C>T p.Leu536Phe Missense 8/8 - 1
6-152419919-CT-GG c.1606_1607delinsGG p.Leu536Gly Missense 8/8 - 1
6-152419920-T-C c.1607T>C p.Leu536Pro Missense 8/8 - 8
6-152419920-T-A c.1607T>A p.Leu536His Missense 8/8 - 13
6-152419920-T-G c.1607T>G p.Leu536Arg Missense 8/8 - 27
6-152419920-TC-AA c.1607_1608delinsAA p.Leu536Gln Missense 8/8 - 20
6-152419922-T-A c.1609T>A p.Tyr537Asn Missense 8/8 - 84
6-152419922-T-C c.1609T>C p.Tyr537His Missense 8/8 - 1
6-152419922-T-G c.1609T>G p.Tyr537Asp Missense 8/8 - 1
6-152419922-TAT-CAA c.1609_1611delinsCAA p.Tyr537Gln Missense 8/8 - 1
6-152419922-TA-GG c.1609_1610delinsGG p.Tyr537Gly Missense 8/8 - 1
6-152419923-A-C c.1610A>C p.Tyr537Ser Missense 8/8 - 179
6-152419923-A-G c.1610A>G p.Tyr537Cys Missense 8/8 - 79
6-152419925-G-A c.1612G>A p.Asp538Asn Missense 8/8 - 2
6-152419926-A-G c.1613A>G p.Asp538Gly Missense 8/8 - 169
6-152419926-A-C c.1613A>C p.Asp538Ala Missense 8/8 - 4
6-152419927-C-A c.1614C>A p.Asp538Glu Missense 8/8 - 2
6-152419927-C-G c.1614C>G p.Asp538Glu Missense 8/8 - 2
6-152419928-CT-GC c.1615_1616delinsGC p.Leu539Ala Missense 8/8 - 1
6-152419932-T-A c.1619T>A p.Leu540Gln Missense 8/8 - 2
6-152419935-T-G c.1622T>G p.Leu541Arg Missense 8/8 - 1
6-152419937-G-A c.1624G>A p.Glu542Lys Missense 8/8 - 1
6-152419939-G-C c.1626G>C p.Glu542Asp Missense 8/8 - 1
6-152419939-G-T c.1626G>T p.Glu542Asp Missense 8/8 - 1
6-152419940-AT-GC c.1627_1628delinsGC p.Met543Ala Missense 8/8 - 2
6-152419943-CT-GC c.1630_1631delinsGC p.Leu544Ala Missense 8/8 - 4
6-152419946-G-A c.1633G>A p.Asp545Asn Missense 8/8 - 1
6-152419955-C-T c.1642C>T p.Arg548Cys Missense 8/8 - 1
6-152419959-T-C c.1646T>C p.Leu549Pro Missense 8/8 - 1
6-152419976-CGT-TGA c.1663_1665delinsTGA p.Arg555* Nonsense 8/8 - 1
6-152419976-C-T c.1663C>T p.Arg555Cys Missense 8/8 - 1
6-152419977-GT-AA c.1664_1665delinsAA p.Arg555Gln Missense 8/8 - 1
6-152419987-A-G c.1674A>G p.Ala558Ala Synonymous 8/8 - 1
6-152419988-T-G c.1675T>G p.Ser559Ala Missense 8/8 - 1
6-152419992-T-A c.1679T>A p.Val560Glu Missense 8/8 - 1
6-152420018-GC-CG c.1705_1706delinsCG p.Ala569Arg Missense 8/8 - 2
6-152420018-GC-TG c.1705_1706delinsTG p.Ala569Cys Missense 8/8 - 1
6-152420018-G-T c.1705G>T p.Ala569Ser Missense 8/8 - 1
6-152420022-C-T c.1709C>T p.Thr570Ile Missense 8/8 - 2
6-152420025-C-T c.1712C>T p.Ala571Val Missense 8/8 - 1
6-152420026-G-A c.1713G>A p.Ala571Ala Synonymous 8/8 - 2
6-152420040-C-T c.1727C>T p.Ser576Leu Missense 8/8 - 1
6-152420079-A-G c.1766A>G p.Glu589Gly Missense 8/8 - 1
6-152420082-G-C c.1769G>C p.Gly590Ala Missense 8/8 - 2
6-152420088-C-G c.1775C>G p.Pro592Arg Missense 8/8 - 1
6-152420095-G-T c.1782G>T p.Thr594Thr Synonymous 8/8 - 4
6-152420095-G-A c.1782G>A p.Thr594Thr Synonymous 8/8 - 59
6-152420095-G-C c.1782G>C p.Thr594Thr Synonymous 8/8 - 4
6-152420197-C-T c.*96C>T - 3-UTRSNV 8/8 - 14
6-152420685-C-G c.*584C>G - 3-UTRSNV 8/8 - 1
6-152420685-C-T c.*584C>T - 3-UTRSNV 8/8 - 1
6-152421130-T-C c.*1029T>C - 3-UTRSNV 8/8 - 51
6-152421854-C-A c.*1753C>A - 3-UTRSNV 8/8 - 5
6-152421979-T-C c.*1878T>C - 3-UTRSNV 8/8 - 1
6-152422187-G-T c.*2086G>T - 3-UTRSNV 8/8 - 1
6-152422335-C-T c.*2234C>T - 3-UTRSNV 8/8 - 15
6-152422455-T-A c.*2354T>A - 3-UTRSNV 8/8 - 1
6-152422724-C-T c.*2623C>T - 3-UTRSNV 8/8 - 1
6-152423128-T-C c.*3027T>C - 3-UTRSNV 8/8 - 1
6-152423199-C-A c.*3098C>A - 3-UTRSNV 8/8 - 1
6-152423806-G-A c.*3705G>A - 3-UTRSNV 8/8 - 1
6-152423905-T-G c.*3804T>G - 3-UTRSNV 8/8 - 7
6-152423905-T-A c.*3804T>A - 3-UTRSNV 8/8 - 7
6-152424243-T-C c.*4142T>C - 3-UTRSNV 8/8 - 1
6-152424304-C-A c.*4203C>A - 3-UTRSNV 8/8 - 2