GC GC vitamin D binding protein

Canonical transcript: NM_000583

1042 unique variant annotations were identified in 1431 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
4-72607678-T-G c.*26-91A>C - intron_variant - 12/12 5
4-72608115-C-T c.*26-528G>A - intron_variant - 12/12 13
4-72608383-T-G c.*26-796A>C - intron_variant - 12/12 189
4-72609398-C-T c.*26-1811G>A - intron_variant - 12/12 34
4-72609398-C-A c.*26-1811G>T - intron_variant - 12/12 34
4-72610208-C-A c.*25+1660G>T - IntronicSNV - 12/12 2
4-72611215-A-G c.*25+653T>C - IntronicSNV - 12/12 1
4-72611690-G-T c.*25+178C>A - IntronicSNV - 12/12 7
4-72611690-G-C c.*25+178C>G - IntronicSNV - 12/12 7
4-72611690-G-A c.*25+178C>T - IntronicSNV - 12/12 7
4-72611900-AT-GC c.1417_1418delinsGC p.Ile473Ala Missense 12/13 - 1
4-72611904-TTCTT-T c.1412_1415del p.Lys471Ilefs*24 Frameshift 12/13 - 1
4-72611915-GC-TG c.1402_1403delinsCA p.Ala468His Missense 12/13 - 1
4-72611918-T-G c.1400A>C p.Asp467Ala Missense 12/13 - 2
4-72611921-A-AC c.1396_1397insG p.Ile466Serfs*2 SpliceAcceptorInsertion 12/13 - 1
4-72612616-G-A c.1396-694C>T - IntronicSNV - 11/12 2
4-72612687-C-G c.1396-765G>C - IntronicSNV - 11/12 4
4-72612687-C-A c.1396-765G>T - IntronicSNV - 11/12 4
4-72613036-A-G c.1396-1114T>C - IntronicSNV - 11/12 2
4-72613036-A-C c.1396-1114T>G - IntronicSNV - 11/12 2
4-72613566-G-A c.1396-1644C>T - IntronicSNV - 11/12 4
4-72614140-A-C c.1396-2218T>G - IntronicSNV - 11/12 5
4-72614267-G-C c.1396-2345C>G - IntronicSNV - 11/12 22
4-72615362-A-G c.1395+2873T>C - IntronicSNV - 11/12 1
4-72616327-C-A c.1395+1908G>T - IntronicSNV - 11/12 2
4-72616327-C-T c.1395+1908G>A - IntronicSNV - 11/12 2
4-72616932-G-A c.1395+1303C>T - IntronicSNV - 11/12 9
4-72617775-A-G c.1395+460T>C - IntronicSNV - 11/12 3
4-72618238-T-C c.1392A>G p.Ser464Ser Synonymous 11/13 - 1
4-72618238-TG-AT c.1391_1392delinsAT p.Ser464Tyr Missense 11/13 - 1
4-72618238-TG-TT c.1391delinsA p.Ser464* Missense 11/13 - 3
4-72618242-T-G c.1388A>C p.Asp463Ala Missense 11/13 - 1
4-72618245-C-T c.1385G>A p.Cys462Tyr Missense 11/13 - 1
4-72618247-G-A c.1383C>T p.Tyr461Tyr Synonymous 11/13 - 1
4-72618252-G-T c.1378C>A p.Leu460Ile Missense 11/13 - 1
4-72618255-G-GG c.1376dup p.Leu460Serfs*4 Frameshift 11/13 - 1
4-72618255-G-T c.1375C>A p.Pro459Thr Missense 11/13 - 1
4-72618263-TT-CT c.1367delinsG p.Asn456Ser Missense 11/13 - 1
4-72618263-TT-GC c.1366_1367delinsGC p.Asn456Ala Missense 11/13 - 1
4-72618268-GG-AA c.1361_1362delinsTT p.Ser454Phe Nonsense 11/13 - 1
4-72618270-A-C c.1360T>G p.Ser454Ala Missense 11/13 - 1
4-72618275-C-A c.1355G>T p.Cys452Phe Missense 11/13 - 1
4-72618275-CA-AC c.1354_1355delinsGT p.Cys452Val Missense 11/13 - 1
4-72618276-A-T c.1354T>A p.Cys452Ser Missense 11/13 - 1
4-72618275-C-G c.1355G>C p.Cys452Ser Missense 11/13 - 1
4-72618278-T-G c.1352A>C p.Asn451Thr Missense 11/13 - 1
4-72618281-GA-CG c.1348_1349delinsCG p.Ser450Arg Missense 11/13 - 1
4-72618281-GA-CT c.1348_1349delinsAG p.Ser450Ser Missense 11/13 - 18
4-72618282-A-C c.1348T>G p.Ser450Ala Missense 11/13 - 2
4-72618285-C-T c.1345G>A p.Ala449Thr Missense 11/13 - 1
4-72618285-C-G c.1345G>C p.Ala449Pro Missense 11/13 - 1
4-72618290-T-G c.1340A>C p.Asp447Ala Missense 11/13 - 1
4-72618292-T-TT c.1338dup p.Asp447Argfs*17 Frameshift 11/13 - 1
4-72618292-TGA-AAC c.1336_1338delinsGTT p.Ser446Val Missense 11/13 - 1
4-72618293-G-A c.1337C>T p.Ser446Leu Missense 11/13 - 1
4-72618296-T-G c.1334A>C p.His445Pro Missense 11/13 - 2
4-72618296-T-C c.1334A>G p.His445Arg Missense 11/13 - 5
4-72618296-T-A c.1334A>T p.His445Leu Missense 11/13 - 3
4-72618297-G-A c.1333C>T p.His445Tyr Missense 11/13 - 3
4-72618298-C-A c.1332G>T p.Lys444Asn Missense 11/13 - 1
4-72618298-C-G c.1332G>C p.Lys444Asn Missense 11/13 - 1
4-72618302-T-C c.1328A>G p.Asn443Ser Missense 11/13 - 1
4-72618307-CAG-TTT c.1321_1323delinsAAA p.Leu441Lys Missense 11/13 - 1
4-72618307-C-T c.1323G>A p.Leu441Leu Synonymous 11/13 - 1
4-72618307-C-A c.1323G>T p.Leu441Leu Synonymous 11/13 - 1
4-72618315-C-T c.1315G>A p.Ala439Thr Missense 11/13 - 2
4-72618316-CAG-TGT c.1312_1314delinsACA p.Leu438Thr Missense 11/13 - 1
4-72618319-GTTCCGTGGGTGTGGCATCAG-G c.1295_1314del p.Asp432Glyfs*5 Frameshift 11/13 - 1
4-72618323-G-T c.1307C>A p.Thr436Lys Missense 11/13 - 263
4-72618323-G-A c.1307C>T p.Thr436Met Missense 11/13 - 242
4-72618324-T-A c.1306A>T p.Thr436Ser Missense 11/13 - 1
4-72618324-T-C c.1306A>G p.Thr436Ala Missense 11/13 - 1
4-72618327-G-A c.1303C>T p.Pro435Ser Missense 11/13 - 1
4-72618332-G-T c.1298C>A p.Ala433Asp Missense 11/13 - 1
4-72618333-C-T c.1297G>A p.Ala433Thr Missense 11/13 - 2
4-72618334-A-T c.1296T>A p.Asp432Glu Missense 11/13 - 292
4-72618334-A-C c.1296T>G p.Asp432Glu Missense 11/13 - 297
4-72618335-T-G c.1295A>C p.Asp432Ala Missense 11/13 - 1
4-72618335-T-C c.1295A>G p.Asp432Gly Missense 11/13 - 2
4-72618336-C-T c.1294G>A p.Asp432Asn Missense 11/13 - 1
4-72618350-T-C c.1280A>G p.Lys427Arg Missense 11/13 - 1
4-72618353-AG-GC c.1276_1277delinsGC p.Leu426Ala Missense 11/13 - 1
4-72618359-T-C c.1271A>G p.Glu424Gly Missense 11/13 - 2
4-72618359-T-G c.1271A>C p.Glu424Ala Missense 11/13 - 1
4-72618360-C-T c.1270G>A p.Glu424Lys Missense 11/13 - 1
4-72620136-G-A c.1254C>T p.Tyr418Tyr Synonymous 10/13 - 1
4-72620139-C-A c.1251G>T p.Glu417Asp Missense 10/13 - 1
4-72620145-A-T c.1245T>A p.Phe415Leu Missense 10/13 - 1
4-72620147-A-G c.1243T>C p.Phe415Leu Missense 10/13 - 1
4-72620145-A-C c.1245T>G p.Phe415Leu Missense 10/13 - 1
4-72620149-GT-GG c.1240delinsC p.Thr414Pro Missense 10/13 - 4
4-72620154-T-C c.1236A>G p.Glu412Glu Synonymous 10/13 - 1
4-72620154-TTT-T c.1237_1238del p.Asn413Tyrfs*4 Frameshift 10/13 - 1
4-72620155-T-G c.1235A>C p.Glu412Ala Missense 10/13 - 1
4-72620164-T-C c.1226A>G p.Asp409Gly Missense 10/13 - 6
4-72620164-T-A c.1226A>T p.Asp409Val Missense 10/13 - 11
4-72620165-C-G c.1225G>C p.Asp409His Missense 10/13 - 14
4-72620166-T-A c.1224A>T p.Ala408Ala Synonymous 10/13 - 1
4-72620166-T-G c.1224A>C p.Ala408Ala Synonymous 10/13 - 1
4-72620166-T-C c.1224A>G p.Ala408Ala Synonymous 10/13 - 1
4-72620168-C-CG c.1221_1222insC p.Ala408Argfs*10 Frameshift 10/13 - 1
4-72620173-A-G c.1217T>C p.Leu406Pro Missense 10/13 - 1
4-72620180-G-C c.1210C>G p.Gln404Glu Missense 10/13 - 1
4-72620185-TT-GC c.1204_1205delinsGC p.Lys402Ala Missense 10/13 - 1
4-72620189-C-G c.1201G>C p.Asp401His Missense 10/13 - 3
4-72620194-AA-CA c.1196delinsG p.Phe399Cys Missense 10/13 - 1
4-72620195-A-T c.1195T>A p.Phe399Ile Missense 10/13 - 1
4-72620199-AG-AA c.1190delinsT p.Ser397Phe Nonsense 10/13 - 1
4-72620202-TA-AT c.1187_1188delinsAT p.Leu396His Missense 10/13 - 1
4-72620213-T-C c.1177A>G p.Lys393Glu Missense 10/13 - 1
4-72620214-TAG-TTT c.1174_1175delinsAA p.Leu392Lys Missense 10/13 - 1
4-72620224-C-A c.1166G>T p.Gly389Val Missense 10/13 - 2
4-72620224-C-G c.1166G>C p.Gly389Ala Missense 10/13 - 1
4-72620224-C-T c.1166G>A p.Gly389Asp Missense 10/13 - 1
4-72620225-C-G c.1165G>C p.Gly389Arg Missense 10/13 - 2
4-72620695-CTT-TGT c.1163_1164delinsCA p.Lys388Thr Missense 9/13 - 1
4-72620695-C-T c.1164G>A p.Lys388Lys Synonymous 9/13 - 1
4-72620696-T-A c.1163A>T p.Lys388Met Missense 9/13 - 1
4-72620697-T-G c.1162A>C p.Lys388Gln Missense 9/13 - 1
4-72620709-A-C c.1150T>G p.Cys384Gly Missense 9/13 - 1
4-72620712-T-TG c.1146_1147insC p.Thr383Hisfs*4 Frameshift 9/13 - 1
4-72620714-GT-TG c.1144_1145delinsCA p.Thr382His Missense 9/13 - 1
4-72620716-T-C c.1143A>G p.Ser381Ser Synonymous 9/13 - 1
4-72620718-A-C c.1141T>G p.Ser381Ala Missense 9/13 - 1
4-72620719-G-C c.1140C>G p.Asp380Glu Missense 9/13 - 1
4-72620719-G-A c.1140C>T p.Asp380Asp Synonymous 9/13 - 1
4-72620719-G-T c.1140C>A p.Asp380Glu Missense 9/13 - 1
4-72620720-T-G c.1139A>C p.Asp380Ala Missense 9/13 - 1
4-72620721-C-T c.1138G>A p.Asp380Asn Missense 9/13 - 1
4-72620729-T-G c.1130A>C p.Asp377Ala Missense 9/13 - 1
4-72620730-C-G c.1129G>C p.Asp377His Missense 9/13 - 1
4-72620730-C-CC c.1129dup p.Asp377Glyfs*3 Frameshift 9/13 - 1
4-72620732-CA-AC c.1126_1127delinsGT p.Cys376Val Missense 9/13 - 1
4-72620732-C-T c.1127G>A p.Cys376Tyr Missense 9/13 - 1
4-72620741-C-A c.1118G>T p.Gly373Val Missense 9/13 - 2
4-72620741-C-T c.1118G>A p.Gly373Asp Missense 9/13 - 1
4-72620743-CAA-C c.1115_1116del p.Leu372Argfs*2 Frameshift 9/13 - 1
4-72620744-A-G c.1115T>C p.Leu372Pro Missense 9/13 - 3
4-72620746-GCT-GAG c.1111_1112delinsCT p.Ser371Leu Missense 9/13 - 1
4-72620747-CT-CC c.1111delinsG p.Ser371Gly Missense 9/13 - 2
4-72620763-C-G c.1096G>C p.Glu366Gln Missense 9/13 - 2
4-72620763-C-T c.1096G>A p.Glu366Lys Missense 9/13 - 1
4-72620770-C-T c.1089G>A p.Lys363Lys Synonymous 9/13 - 1
4-72620771-TT-GC c.1087_1088delinsGC p.Lys363Ala Missense 9/13 - 1
4-72620773-ACT-TGG c.1084_1086delinsCCA p.Ser362Pro Missense 9/13 - 1
4-72620773-A-G c.1086T>C p.Ser362Ser Synonymous 9/13 - 1
4-72620773-ACT-GAG c.1084_1086delinsCTC p.Ser362Leu Missense 9/13 - 1
4-72620774-CT-GC c.1084_1085delinsGC p.Ser362Ala Missense 9/13 - 2
4-72620780-AA-GC c.1078_1079delinsGC p.Phe360Ala Missense 9/13 - 1
4-72620780-A-T c.1079T>A p.Phe360Tyr Missense 9/13 - 1
4-72620784-C-G c.1075G>C p.Val359Leu Missense 9/13 - 1
4-72620784-C-T c.1075G>A p.Val359Ile Missense 9/13 - 1
4-72620784-C-A c.1075G>T p.Val359Leu Missense 9/13 - 1
4-72620785-T-G c.1074A>C p.Glu358Asp Missense 9/13 - 2
4-72620785-T-A c.1074A>T p.Glu358Asp Missense 9/13 - 2
4-72620786-T-G c.1073A>C p.Glu358Ala Missense 9/13 - 1
4-72620787-C-T c.1072G>A p.Glu358Lys Missense 9/13 - 1
4-72620788-C-T c.1071G>A p.Pro357Pro Synonymous 9/13 - 1
4-72620793-G-C c.1066C>G p.Leu356Val Missense 9/13 - 1
4-72620796-G-A c.1063C>T p.His355Tyr Missense 9/13 - 3
4-72620798-GT-GG c.1060delinsC p.Thr354Pro Missense 9/13 - 1
4-72620798-G-A c.1061C>T p.Thr354Ile Missense 9/13 - 2
4-72620801-CT-GC c.1057_1058delinsGC p.Arg353Ala Missense 9/13 - 1
4-72620801-CT-CA c.1057delinsT p.Arg353Trp Missense 9/13 - 4
4-72620802-T-A c.1057A>T p.Arg353Trp Missense 9/13 - 1
4-72620802-CTTCTGCTT-C c.1050_1057del p.Ser351Aspfs*10 Frameshift 9/13 - 1
4-72620804-C-T c.1055G>A p.Arg352Lys Missense 9/13 - 1
4-72620804-CT-GC c.1054_1055delinsGC p.Arg352Ala Missense 9/13 - 1
4-72620814-C-T c.1045G>A p.Glu349Lys Missense 9/13 - 2
4-72620817-A-AA c.1044dup p.Glu349* Nonsense 9/13 - 1
4-72620818-TG-AC c.1040_1041delinsGT p.Thr347Ser Missense 9/13 - 1
4-72620820-T-A c.1039A>T p.Thr347Ser Missense 9/13 - 1
4-72620820-T-C c.1039A>G p.Thr347Ala Missense 9/13 - 1
4-72620822-T-A c.1037A>T p.Tyr346Phe Missense 9/13 - 1
4-72621674-T-G c.1034+755A>C - IntronicSNV - 8/12 5
4-72622432-T-G c.1031A>C p.Asp344Ala Missense 8/13 - 1
4-72622432-TC-CG c.1030_1031delinsCG p.Asp344Arg Missense 8/13 - 1
4-72622438-GA-G c.1025del p.Val342Alafs*9 Frameshift 8/13 - 1
4-72622438-A-G c.1025T>C p.Val342Ala Missense 8/13 - 1
4-72622439-AC-A c.1024del p.Val342Serfs*9 Frameshift 8/13 - 1
4-72622441-TT-GC c.1021_1022delinsGC p.Lys341Ala Missense 8/13 - 3
4-72622441-T-C c.1022A>G p.Lys341Arg Missense 8/13 - 1
4-72622443-GG-TG c.1020delinsA p.Thr340Thr Missense 8/13 - 2
4-72622445-T-C c.1018A>G p.Thr340Ala Missense 8/13 - 2
4-72622456-T-G c.1007A>C p.Asp336Ala Missense 8/13 - 2
4-72622457-C-G c.1006G>C p.Asp336His Missense 8/13 - 1
4-72622459-CA-GC c.1003_1004delinsGC p.Cys335Ala Missense 8/13 - 2
4-72622460-A-C c.1003T>G p.Cys335Gly Missense 8/13 - 1
4-72622465-T-G c.998A>C p.Asp333Ala Missense 8/13 - 2
4-72622471-T-G c.992A>C p.Asn331Thr Missense 8/13 - 1
4-72622473-T-A c.990A>T p.Thr330Thr Synonymous 8/13 - 1
4-72622474-G-T c.989C>A p.Thr330Lys Missense 8/13 - 1
4-72622475-T-C c.988A>G p.Thr330Ala Missense 8/13 - 1
4-72622477-G-A c.986C>T p.Pro329Leu Missense 8/13 - 1
4-72622479-C-T c.984G>A p.Leu328Leu Synonymous 8/13 - 1
4-72622485-TAC-ATG c.976_978delinsCAT p.Val326His Missense 8/13 - 1
4-72622486-A-G c.977T>C p.Val326Ala Missense 8/13 - 1
4-72622487-C-T c.976G>A p.Val326Ile Missense 8/13 - 3
4-72622488-ATC-TGG c.973_975delinsCCA p.Asp325Pro Missense 8/13 - 1
4-72622489-T-G c.974A>C p.Asp325Ala Missense 8/13 - 2
4-72622494-A-C c.969T>G p.Leu323Leu Synonymous 8/13 - 1
4-72622494-A-G c.969T>C p.Leu323Leu Synonymous 8/13 - 1
4-72622494-A-T c.969T>A p.Leu323Leu Synonymous 8/13 - 1
4-72622495-A-G c.968T>C p.Leu323Pro Missense 8/13 - 1
4-72622495-AG-TG c.968delinsA p.Leu323His Missense 8/13 - 1
4-72622499-C-T c.964G>A p.Glu322Lys Missense 8/13 - 1
4-72622500-G-A c.963C>T p.Pro321Pro Synonymous 8/13 - 1
4-72622501-G-A c.962C>T p.Pro321Leu Missense 8/13 - 1
4-72622501-G-T c.962C>A p.Pro321His Missense 8/13 - 1
4-72622505-G-A c.958C>T p.Leu320Phe Missense 8/13 - 1
4-72622507-TG-GG c.956delinsC p.Gln319Pro Missense 8/13 - 1
4-72622510-G-A c.953C>T p.Ala318Val Missense 8/13 - 1
4-72622511-C-G c.952G>C p.Ala318Pro Missense 8/13 - 2
4-72622511-C-T c.952G>A p.Ala318Thr Missense 8/13 - 1
4-72622513-G-C c.950C>G p.Ala317Gly Missense 8/13 - 1
4-72622513-GC-AA c.949_950delinsTT p.Ala317Phe Missense 8/13 - 1
4-72622514-C-G c.949G>C p.Ala317Pro Missense 8/13 - 1
4-72622514-C-T c.949G>A p.Ala317Thr Missense 8/13 - 2
4-72622517-G-T c.946C>A p.Pro316Thr Missense 8/13 - 1
4-72622518-C-T c.945G>A p.Met315Ile Missense 8/13 - 1
4-72622521-G-A c.942C>T p.Phe314Phe Synonymous 8/13 - 1
4-72622526-A-G c.937T>C p.Tyr313His Missense 8/13 - 1
4-72622528-G-A c.935C>T p.Thr312Ile Missense 8/13 - 1
4-72622529-T-C c.934A>G p.Thr312Ala Missense 8/13 - 2
4-72622529-T-TCTGCGTCTCCACGTTGCGCTGCTTGGC c.933_934insGCCAAGCAGCGCAACGTGGAGACGCAG p.Cys311_Thr312insAlaLysGlnArgAsnValGluThrGln InFrameInsertion 8/13 - 1
4-72622532-A-C c.931T>G p.Cys311Gly Missense 8/13 - 1
4-72622540-AC-CC c.923delinsG p.Val308Gly Missense 8/13 - 1
4-72622542-G-A c.921C>T p.Asp307Asp Synonymous 8/13 - 1
4-72622543-T-G c.920A>C p.Asp307Ala Missense 8/13 - 2
4-72622545-C-A c.918G>T p.Met306Ile Missense 8/13 - 7
4-72622545-C-T c.918G>A p.Met306Ile Missense 8/13 - 7
4-72622545-C-G c.918G>C p.Met306Ile Missense 8/13 - 7
4-72622547-T-C c.916A>G p.Met306Val Missense 8/13 - 12
4-72622548-G-A c.915C>T p.Ala305Ala Synonymous 8/13 - 1
4-72622550-C-T c.913G>A p.Ala305Thr Missense 8/13 - 1
4-72622552-GT-GG c.910delinsC p.Thr304Pro Missense 8/13 - 1
4-72622552-TGT-T c.911_912del p.Thr304Serfs*32 Frameshift 8/13 - 1
4-72622553-T-C c.910A>G p.Thr304Ala Missense 8/13 - 1
4-72622555-T-C c.908A>G p.Lys303Arg Missense 8/13 - 1
4-72622562-G-C c.901C>G p.Gln301Glu Missense 8/13 - 1
4-72622565-A-C c.898T>G p.Cys300Gly Missense 8/13 - 1
4-72622566-A-G c.897T>C p.Cys299Cys Synonymous 8/13 - 4
4-72622567-CA-GC c.895_896delinsGC p.Cys299Ala Missense 8/13 - 1
4-72622567-CA-AC c.895_896delinsGT p.Cys299Val Missense 8/13 - 2
4-72622568-A-T c.895T>A p.Cys299Ser Missense 8/13 - 1
4-72622567-C-G c.896G>C p.Cys299Ser Missense 8/13 - 1
4-72622569-G-A c.894C>T p.Asp298Asp Synonymous 8/13 - 1
4-72622571-C-T c.892G>A p.Asp298Asn Missense 8/13 - 1
4-72622573-T-G c.890A>C p.Glu297Ala Missense 8/13 - 2
4-72622574-C-T c.889G>A p.Glu297Lys Missense 8/13 - 2
4-72622576-A-G c.887T>C p.Phe296Ser Missense 8/13 - 1
4-72622583-A-C c.880T>G p.Ser294Ala Missense 8/13 - 2
4-72622590-TGT-GAGCCAA c.871_873delinsTTGGCTC p.Thr291Leufs*6 Frameshift 8/13 - 1
4-72622591-G-T c.872C>A p.Thr291Lys Missense 8/13 - 1
4-72622601-T-TTGCA c.861_862insTGCA p.Asn288Cysfs*9 Frameshift 8/13 - 1
4-72622602-G-C c.861C>G p.Asp287Glu Missense 8/13 - 1
4-72622603-T-C c.860A>G p.Asp287Gly Missense 8/13 - 1
4-72622605-A-T c.858T>A p.Cys286* Nonsense 8/13 - 1
4-72622607-A-T c.856T>A p.Cys286Ser Missense 8/13 - 1
4-72622607-A-G c.856T>C p.Cys286Arg Missense 8/13 - 1
4-72622606-C-G c.857G>C p.Cys286Ser Missense 8/13 - 1
4-72622608-GAG-TGG c.854_855delinsCA p.Leu285Pro Missense 8/13 - 1
4-72622610-G-A c.853C>T p.Leu285Phe Missense 8/13 - 1
4-72622616-C-A c.847G>T p.Val283Leu Missense 8/13 - 1
4-72622616-C-G c.847G>C p.Val283Leu Missense 8/13 - 1
4-72622617-TG-AC c.845_846delinsGT p.Thr282Ser Missense 8/13 - 1
4-72622619-T-C c.844A>G p.Thr282Ala Missense 8/13 - 1
4-72622619-GT-G c.844del p.Thr282Glnfs*2 Frameshift 8/13 - 1
4-72622622-G-T c.841C>A p.His281Asn Missense 8/13 - 1
4-72622624-T-G c.839A>C p.Glu280Ala Missense 8/13 - 1
4-72623347-A-G c.831+412T>C - IntronicSNV - 7/12 3
4-72623760-T-TT c.830dup p.Leu278Alafs*3 SpliceDonorInsertion 7/13 - 1
4-72623761-C-G c.829G>C p.Glu277Gln Missense 7/13 - 1
4-72623763-TT-GC c.826_827delinsGC p.Lys276Ala Missense 7/13 - 1
4-72623772-C-T c.818G>A p.Cys273Tyr Missense 7/13 - 1
4-72623772-C-CT c.817_818insA p.Cys273* Nonsense 7/13 - 1
4-72623773-A-T c.817T>A p.Cys273Ser Missense 7/13 - 2
4-72623772-C-G c.818G>C p.Cys273Ser Missense 7/13 - 2
4-72623774-A-G c.816T>C p.Asp272Asp Synonymous 7/13 - 1
4-72623780-AGA-GAG c.808_810delinsCTC p.Ser270Leu Missense 7/13 - 1
4-72623781-GA-CG c.808_809delinsCG p.Ser270Arg Missense 7/13 - 1
4-72623782-A-C c.808T>G p.Ser270Ala Missense 7/13 - 3
4-72623783-GG-TT c.806_807delinsAA p.Ala269Glu Missense 7/13 - 1
4-72623785-C-A c.805G>T p.Ala269Ser Missense 7/13 - 1
4-72623785-C-T c.805G>A p.Ala269Thr Missense 7/13 - 3
4-72623786-AGA-GAG c.802_804delinsCTC p.Ser268Leu Missense 7/13 - 1
4-72623787-GA-GG c.802delinsC p.Ser268Pro Missense 7/13 - 2
4-72623788-A-C c.802T>G p.Ser268Ala Missense 7/13 - 2
4-72623788-A-G c.802T>C p.Ser268Pro Missense 7/13 - 2
4-72623790-T-G c.800A>C p.Glu267Ala Missense 7/13 - 1
4-72623793-C-G c.797G>C p.Cys266Ser Missense 7/13 - 2
4-72623795-G-C c.795C>G p.Cys265Trp Missense 7/13 - 1
4-72623799-TT-GC c.790_791delinsGC p.Lys264Ala Missense 7/13 - 3
4-72623804-GAG-ATG c.785_786delinsAT p.Leu262His Missense 7/13 - 1
4-72623809-T-A c.781A>T p.Ile261Phe Missense 7/13 - 1
4-72623821-C-T c.769G>A p.Asp257Asn Missense 7/13 - 1
4-72623824-C-T c.766G>A p.Glu256Lys Missense 7/13 - 2
4-72623826-GC-TG c.763_764delinsCA p.Ala255His Missense 7/13 - 1
4-72623826-G-C c.764C>G p.Ala255Gly Missense 7/13 - 1
4-72623826-G-A c.764C>T p.Ala255Val Missense 7/13 - 1
4-72623827-C-G c.763G>C p.Ala255Pro Missense 7/13 - 1
4-72623832-G-A c.758C>T p.Pro253Leu Missense 7/13 - 1
4-72623833-G-A c.757C>T p.Pro253Ser Missense 7/13 - 1
4-72623833-G-T c.757C>A p.Pro253Thr Missense 7/13 - 1
4-72623835-AA-AG c.754delinsC p.Leu252Leu Missense 7/13 - 1
4-72623835-AA-CA c.755delinsG p.Leu252Trp Missense 7/13 - 1
4-72623835-AA-CC c.754_755delinsGG p.Leu252Gly Missense 7/13 - 3
4-72623836-A-T c.754T>A p.Leu252Met Missense 7/13 - 1
4-72623837-AAC-ATG c.751_752delinsCA p.Val251His Missense 7/13 - 1
4-72623841-TC-CG c.748_749delinsCG p.Asp250Arg Missense 7/13 - 1
4-72623842-C-T c.748G>A p.Asp250Asn Missense 7/13 - 3
4-72623844-T-G c.746A>C p.Glu249Ala Missense 7/13 - 2
4-72623846-CAG-ATC c.742_744delinsGAT p.Leu248Asp Missense 7/13 - 2
4-72623847-A-AT c.742_743insA p.Leu248Hisfs*9 Frameshift 7/13 - 1
4-72623847-A-G c.743T>C p.Leu248Pro Missense 7/13 - 1
4-72623847-AG-GC c.742_743delinsGC p.Leu248Ala Missense 7/13 - 2
4-72623851-C-T c.739G>A p.Asp247Asn Missense 7/13 - 1
4-72623853-G-C c.737C>G p.Ala246Gly Missense 7/13 - 2
4-72623853-G-A c.737C>T p.Ala246Val Missense 7/13 - 2
4-72623854-C-T c.736G>A p.Ala246Thr Missense 7/13 - 2
4-72623855-A-G c.735T>C p.Thr245Thr Synonymous 7/13 - 1
4-72623855-A-T c.735T>A p.Thr245Thr Synonymous 7/13 - 1
4-72623855-A-C c.735T>G p.Thr245Thr Synonymous 7/13 - 1
4-72623856-GT-TG c.733_734delinsCA p.Thr245His Missense 7/13 - 1
4-72623856-GT-GG c.733delinsC p.Thr245Pro Missense 7/13 - 5
4-72623863-C-T c.727G>A p.Val243Met Missense 7/13 - 2
4-72623867-T-A c.723A>T p.Gln241His Missense 7/13 - 1
4-72623867-T-G c.723A>C p.Gln241His Missense 7/13 - 1
4-72623868-TG-GG c.722delinsC p.Gln241Pro Missense 7/13 - 1
4-72623874-AA-GC c.715_716delinsGC p.Leu239Ala Missense 7/13 - 1
4-72623880-AT-GC c.709_710delinsGC p.Ile237Ala Missense 7/13 - 1
4-72623883-A-G c.707T>C p.Leu236Pro Missense 7/13 - 1
4-72623884-G-C c.706C>G p.Leu236Val Missense 7/13 - 1
4-72623889-GCTAAACAGTTAAAAATAAATATGTTAGCTTATCAACATTCTCAGTTTTCTTGGTTTCGT-G c.702-59_702-1del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion - 6/12 1
4-72624501-T-C c.702-613A>G - IntronicSNV - 6/12 1
4-72626088-C-A c.702-2200G>T - IntronicSNV - 6/12 3
4-72626088-C-G c.702-2200G>C - IntronicSNV - 6/12 3
4-72626088-C-T c.702-2200G>A - IntronicSNV - 6/12 3
4-72627684-A-T c.701+1441T>A - IntronicSNV - 6/12 2
4-72629125-C-A c.701G>T p.Ser234Ile Missense 6/13 - 1
4-72629127-GAG-ATG c.698_699delinsAT p.Leu233His Missense 6/13 - 1
4-72629128-AG-GC c.697_698delinsGC p.Leu233Ala Missense 6/13 - 1
4-72629128-AG-GG c.698delinsC p.Leu233Pro Missense 6/13 - 1
4-72629128-AG-AC c.697delinsG p.Leu233Val Missense 6/13 - 1
4-72629128-A-G c.698T>C p.Leu233Pro Missense 6/13 - 1
4-72629129-G-A c.697C>T p.Leu233Phe Missense 6/13 - 1
4-72629130-CCT-CAT c.695delinsT p.Arg232Met Missense 6/13 - 1
4-72629131-CT-GC c.694_695delinsGC p.Arg232Ala Missense 6/13 - 2
4-72629132-T-C c.694A>G p.Arg232Gly Missense 6/13 - 1
4-72629133-TG-GT c.692_693delinsAC p.Ser231Tyr Missense 6/13 - 1
4-72629133-TGA-AAC c.691_693delinsGTT p.Ser231Val Missense 6/13 - 1
4-72629134-G-A c.692C>T p.Ser231Leu Missense 6/13 - 1
4-72629135-A-C c.691T>G p.Ser231Ala Missense 6/13 - 2
4-72629137-TT-GC c.688_689delinsGC p.Lys230Ala Missense 6/13 - 3
4-72629137-T-C c.689A>G p.Lys230Arg Missense 6/13 - 5
4-72629144-C-T c.682G>A p.Glu228Lys Missense 6/13 - 1
4-72629145-CCC-TGT c.679_681delinsACA p.Gly227Thr Missense 6/13 - 1
4-72629146-C-G c.680G>C p.Gly227Ala Missense 6/13 - 1
4-72629147-CC-C c.682del p.Glu228Argfs*10 Frameshift 6/13 - 1
4-72629152-G-A c.674C>T p.Ala225Val Missense 6/13 - 3
4-72629152-G-C c.674C>G p.Ala225Gly Missense 6/13 - 1
4-72629154-A-C c.672T>G p.Ala224Ala Synonymous 6/13 - 2
4-72629154-A-T c.672T>A p.Ala224Ala Synonymous 6/13 - 2
4-72629154-A-G c.672T>C p.Ala224Ala Synonymous 6/13 - 2
4-72629160-TTG-TGG c.665delinsC p.Gln222Pro Missense 6/13 - 1
4-72629161-T-C c.665A>G p.Gln222Arg Missense 6/13 - 1
4-72629162-G-T c.664C>A p.Gln222Lys Missense 6/13 - 2
4-72629162-G-A c.664C>T p.Gln222* Nonsense 6/13 - 1
4-72629165-A-C c.661T>G p.Ser221Ala Missense 6/13 - 3
4-72629167-CA-AC c.658_659delinsGT p.Cys220Val Missense 6/13 - 1
4-72629167-CA-GC c.658_659delinsGC p.Cys220Ala Missense 6/13 - 2
4-72629170-A-G c.656T>C p.Val219Ala Missense 6/13 - 1
4-72629171-C-T c.655G>A p.Val219Ile Missense 6/13 - 3
4-72629171-C-A c.655G>T p.Val219Phe Missense 6/13 - 1
4-72629172-TCT-CAT c.653_654delinsTG p.Arg218Met Missense 6/13 - 2
4-72629172-TCT-TGG c.652_653delinsCC p.Arg218Pro Missense 6/13 - 1
4-72629172-TCT-TGT c.653delinsC p.Arg218Thr Missense 6/13 - 1
4-72629174-T-G c.652A>C p.Arg218Arg Synonymous 6/13 - 1
4-72629178-TGA-GAC c.646_648delinsGTC p.Ser216Val Missense 6/13 - 2
4-72629179-G-A c.647C>T p.Ser216Leu Missense 6/13 - 1
4-72629179-GA-GG c.646delinsC p.Ser216Pro Missense 6/13 - 1
4-72629180-A-T c.646T>A p.Ser216Thr Missense 6/13 - 2
4-72629180-A-C c.646T>G p.Ser216Ala Missense 6/13 - 2
4-72629182-AG-GA c.643_644delinsTC p.Leu215Ser Missense 6/13 - 1
4-72629182-AG-TC c.643_644delinsGA p.Leu215Glu Missense 6/13 - 1
4-72629183-G-A c.643C>T p.Leu215Leu Synonymous 6/13 - 1
4-72629185-GT-TG c.640_641delinsCA p.Thr214His Missense 6/13 - 1
4-72629185-G-A c.641C>T p.Thr214Ile Missense 6/13 - 1
4-72629189-T-A c.637A>T p.Thr213Ser Missense 6/13 - 1
4-72629188-GT-GG c.637delinsC p.Thr213Pro Missense 6/13 - 1
4-72629188-G-C c.638C>G p.Thr213Ser Missense 6/13 - 1
4-72629189-T-C c.637A>G p.Thr213Ala Missense 6/13 - 1
4-72629190-G-T c.636C>A p.Leu212Leu Synonymous 6/13 - 1
4-72629191-A-G c.635T>C p.Leu212Pro Missense 6/13 - 1
4-72629192-G-A c.634C>T p.Leu212Phe Missense 6/13 - 1
4-72629193-AAG-GAG c.633delinsC p.Leu211Leu Missense 6/13 - 1
4-72629197-G-A c.629C>T p.Ser210Leu Missense 6/13 - 1
4-72629198-A-C c.628T>G p.Ser210Ala Missense 6/13 - 1
4-72629201-A-T c.625T>A p.Leu209Ile Missense 6/13 - 1
4-72629203-T-A c.623A>T p.His208Leu Missense 6/13 - 1
4-72629203-TG-GC c.622_623delinsGC p.His208Ala Missense 6/13 - 1
4-72629206-TT-GC c.619_620delinsGC p.Lys207Ala Missense 6/13 - 1
4-72629208-AAG-TGG c.617_618delinsCA p.Leu206Pro Missense 6/13 - 1
4-72629211-C-A c.615G>T p.Gln205His Missense 6/13 - 1
4-72629211-C-G c.615G>C p.Gln205His Missense 6/13 - 1
4-72629212-T-A c.614A>T p.Gln205Leu Missense 6/13 - 2
4-72629212-T-C c.614A>G p.Gln205Arg Missense 6/13 - 1
4-72629212-T-G c.614A>C p.Gln205Pro Missense 6/13 - 1
4-72629213-G-C c.613C>G p.Gln205Glu Missense 6/13 - 2
4-72629213-G-T c.613C>A p.Gln205Lys Missense 6/13 - 1
4-72629213-G-A c.613C>T p.Gln205* Nonsense 6/13 - 1
4-72629214-G-A c.612C>T p.Leu204Leu Synonymous 6/13 - 1
4-72629218-CT-GA c.607_608delinsTC p.Arg203Ser Missense 6/13 - 1
4-72629218-CT-GC c.607_608delinsGC p.Arg203Ala Missense 6/13 - 1
4-72629218-C-T c.608G>A p.Arg203Lys Missense 6/13 - 3
4-72629219-T-A c.607A>T p.Arg203* Nonsense 6/13 - 1
4-72629521-CTC-AAC c.605_606delinsTT p.Glu202Val Missense 5/13 - 1
4-72629522-T-G c.605A>C p.Glu202Ala Missense 5/13 - 2
4-72629523-C-G c.604G>C p.Glu202Gln Missense 5/13 - 1
4-72629525-T-C c.602A>G p.Lys201Arg Missense 5/13 - 1
4-72629528-A-G c.599T>C p.Leu200Ser Missense 5/13 - 1
4-72629530-AAA-AAG c.595delinsC p.Phe199Leu Missense 5/13 - 1
4-72629530-A-G c.597T>C p.Phe199Phe Synonymous 5/13 - 1
4-72629533-G-A c.594C>T p.Cys198Cys Synonymous 5/13 - 1
4-72629534-C-A c.593G>T p.Cys198Phe Missense 5/13 - 1
4-72629537-A-AGCGGGT c.589_590insACCCGC p.Val197delinsAspProLeu MultiAAMissense 5/13 - 1
4-72629538-C-T c.589G>A p.Val197Ile Missense 5/13 - 1
4-72629540-G-A c.587C>T p.Thr196Ile Missense 5/13 - 1
4-72629542-T-A c.585A>T p.Pro195Pro Synonymous 5/13 - 1
4-72629542-T-C c.585A>G p.Pro195Pro Synonymous 5/13 - 1
4-72629542-T-G c.585A>C p.Pro195Pro Synonymous 5/13 - 1
4-72629546-CT-TT c.581delinsA p.Ser194Asn Missense 5/13 - 1
4-72629552-GA-AA c.575delinsT p.Ser192Phe Missense 5/13 - 1
4-72629555-G-A c.572C>T p.Thr191Ile Missense 5/13 - 1
4-72629558-CA-GC c.568_569delinsGC p.Cys190Ala Missense 5/13 - 3
4-72629561-CA-AC c.565_566delinsGT p.Cys189Val Missense 5/13 - 2
4-72629561-CA-GC c.565_566delinsGC p.Cys189Ala Missense 5/13 - 3
4-72629561-CA-GT c.565_566delinsAC p.Cys189Thr Missense 5/13 - 1
4-72629561-C-G c.566G>C p.Cys189Ser Missense 5/13 - 3
4-72629562-A-T c.565T>A p.Cys189Ser Missense 5/13 - 3
4-72629570-A-C c.557T>G p.Val186Gly Missense 5/13 - 1
4-72629571-C-G c.556G>C p.Val186Leu Missense 5/13 - 2
4-72629571-C-A c.556G>T p.Val186Leu Missense 5/13 - 2
4-72629572-CAT-GAC c.553_555delinsGTC p.Met185Val Missense 5/13 - 1
4-72629574-T-C c.553A>G p.Met185Val Missense 5/13 - 1
4-72629580-G-A c.547C>T p.Leu183Phe Missense 5/13 - 1
4-72629582-T-C c.545A>G p.Tyr182Cys Missense 5/13 - 3
4-72629584-ACT-GAG c.541_543delinsCTC p.Ser181Leu Missense 5/13 - 1
4-72629585-CT-GC c.541_542delinsGC p.Ser181Ala Missense 5/13 - 2
4-72629588-TT-GC c.538_539delinsGC p.Lys180Ala Missense 5/13 - 1
4-72629588-T-C c.539A>G p.Lys180Arg Missense 5/13 - 1
4-72629596-ACT-GAG c.529_531delinsCTC p.Ser177Leu Missense 5/13 - 2
4-72629597-C-T c.530G>A p.Ser177Asn Missense 5/13 - 1
4-72629597-CT-GC c.529_530delinsGC p.Ser177Ala Missense 5/13 - 1
4-72629600-AC-TG c.526_527delinsCA p.Val176His Missense 5/13 - 2
4-72629600-A-G c.527T>C p.Val176Ala Missense 5/13 - 2
4-72629601-C-T c.526G>A p.Val176Ile Missense 5/13 - 1
4-72629603-A-G c.524T>C p.Leu175Ser Missense 5/13 - 1
4-72629606-A-G c.521T>C p.Leu174Pro Missense 5/13 - 2
4-72629607-G-A c.520C>T p.Leu174Phe Missense 5/13 - 1
4-72629610-A-G c.517T>C p.Ser173Pro Missense 5/13 - 1
4-72629611-CAG-ATC c.514_516delinsGAT p.Leu172Asp Missense 5/13 - 1
4-72629612-A-G c.515T>C p.Leu172Pro Missense 5/13 - 2
4-72629614-GA-G c.513del p.Leu172Cysfs*4 Frameshift 5/13 - 1
4-72629615-G-A c.512C>T p.Pro171Leu Missense 5/13 - 1
4-72629616-G-A c.511C>T p.Pro171Ser Missense 5/13 - 1
4-72629617-A-C c.510T>G p.Ala170Ala Synonymous 5/13 - 1
4-72629619-C-T c.508G>A p.Ala170Thr Missense 5/13 - 2
4-72629621-TG-TC c.505delinsG p.Gln169Glu Missense 5/13 - 1
4-72629624-TCCG-T c.501_503del p.Tyr167_Gly168delins* MultiAAMissense 5/13 - 1
4-72629629-AAT-A c.497_498del p.Asn166Ilefs*41 Frameshift 5/13 - 1
4-72629632-AGT-CAA c.493_495delinsTTG p.Thr165Leu Missense 5/13 - 1
4-72629633-GT-GA c.493delinsT p.Thr165Ser Missense 5/13 - 1
4-72629634-T-C c.493A>G p.Thr165Ala Missense 5/13 - 1
4-72629635-GGA-GAG c.490_491delinsCT p.Ser164Leu Missense 5/13 - 1
4-72629635-G-A c.492C>T p.Ser164Ser Synonymous 5/13 - 1
4-72629637-A-C c.490T>G p.Ser164Ala Missense 5/13 - 3
4-72629639-T-C c.488A>G p.Tyr163Cys Missense 5/13 - 1
4-72629640-A-C c.487T>G p.Tyr163Asp Missense 5/13 - 1
4-72629641-T-A c.486A>T p.Glu162Asp Missense 5/13 - 1
4-72629641-T-G c.486A>C p.Glu162Asp Missense 5/13 - 1
4-72629642-T-G c.485A>C p.Glu162Ala Missense 5/13 - 4
4-72629642-T-C c.485A>G p.Glu162Gly Missense 5/13 - 1
4-72629643-C-G c.484G>C p.Glu162Gln Missense 5/13 - 1
4-72629645-CA-GC c.481_482delinsGC p.Trp161Ala Missense 5/13 - 1
4-72631148-C-T c.473+1G>A - IntronicSNV - 4/12 1
4-72631149-TG-GC c.472_473delinsGC p.Gln158Ala Missense 4/13 - 1
4-72631150-G-C c.472C>G p.Gln158Glu Missense 4/13 - 1
4-72631152-TT-TG c.469delinsC p.Asn157His Missense 4/13 - 1
4-72631155-G-C c.467C>G p.Ala156Gly Missense 4/13 - 2
4-72631156-C-A c.466G>T p.Ala156Ser Missense 4/13 - 2
4-72631156-C-T c.466G>A p.Ala156Thr Missense 4/13 - 3
4-72631157-CATATTC-C c.461_466del p.Glu154_Tyr155del InFrameDeletion 4/13 - 1
4-72631158-T-G c.464A>C p.Tyr155Ser Missense 4/13 - 1
4-72631159-A-G c.463T>C p.Tyr155His Missense 4/13 - 2
4-72631160-T-A c.462A>T p.Glu154Asp Missense 4/13 - 1
4-72631160-T-G c.462A>C p.Glu154Asp Missense 4/13 - 1
4-72631161-TC-CC c.461delinsG p.Glu154Gly Missense 4/13 - 1
4-72631163-C-G c.459G>C p.Lys153Asn Missense 4/13 - 1
4-72631163-C-A c.459G>T p.Lys153Asn Missense 4/13 - 1
4-72631164-TT-GC c.457_458delinsGC p.Lys153Ala Missense 4/13 - 1
4-72631166-T-C c.456A>G p.Pro152Pro Synonymous 4/13 - 2
4-72631166-T-A c.456A>T p.Pro152Pro Synonymous 4/13 - 1
4-72631166-T-G c.456A>C p.Pro152Pro Synonymous 4/13 - 1
4-72631167-G-C c.455C>G p.Pro152Arg Missense 4/13 - 1
4-72631171-C-T c.451G>A p.Asp151Asn Missense 4/13 - 2
4-72631172-TT-TG c.449delinsC p.Lys150Thr Missense 4/13 - 1
4-72631176-CT-GA c.445_446delinsTC p.Arg149Ser Missense 4/13 - 1
4-72631177-T-C c.445A>G p.Arg149Gly Missense 4/13 - 1
4-72631177-T-TT c.445dup p.Arg149Lysfs*9 Frameshift 4/13 - 1
4-72631179-AA-GC c.442_443delinsGC p.Phe148Ala Missense 4/13 - 1
4-72631181-C-T c.441G>A p.Ala147Ala Synonymous 4/13 - 1
4-72631183-C-T c.439G>A p.Ala147Thr Missense 4/13 - 2
4-72631183-C-CAC c.439_440insTG p.Ala147Valfs*30 Frameshift 4/13 - 1
4-72631185-T-C c.437A>G p.Glu146Gly Missense 4/13 - 1
4-72631185-T-G c.437A>C p.Glu146Ala Missense 4/13 - 2
4-72631186-C-T c.436G>A p.Glu146Lys Missense 4/13 - 1
4-72631186-C-G c.436G>C p.Glu146Gln Missense 4/13 - 1
4-72631188-C-A c.434G>T p.Cys145Phe Missense 4/13 - 1
4-72631188-CA-CT c.433delinsA p.Cys145Ser Missense 4/13 - 1
4-72631188-CA-GC c.433_434delinsGC p.Cys145Ala Missense 4/13 - 3
4-72631188-C-G c.434G>C p.Cys145Ser Missense 4/13 - 2
4-72631189-A-T c.433T>A p.Cys145Ser Missense 4/13 - 2
4-72631192-T-C c.430A>G p.Ile144Val Missense 4/13 - 3
4-72631193-TTC-TGT c.427_428delinsAC p.Glu143Thr Missense 4/13 - 1
4-72631194-T-G c.428A>C p.Glu143Ala Missense 4/13 - 2
4-72631195-C-T c.427G>A p.Glu143Lys Missense 4/13 - 3
4-72631196-A-C c.426T>G p.Asp142Glu Missense 4/13 - 1
4-72631196-A-T c.426T>A p.Asp142Glu Missense 4/13 - 1
4-72631196-ATC-CAA c.424_426delinsTTG p.Asp142Leu Missense 4/13 - 1
4-72631196-ATC-AAG c.424_425delinsCT p.Asp142Leu Missense 4/13 - 1
4-72631197-T-G c.425A>C p.Asp142Ala Missense 4/13 - 1
4-72631198-C-T c.424G>A p.Asp142Asn Missense 4/13 - 1
4-72631200-TT-GC c.421_422delinsGC p.Asn141Ala Missense 4/13 - 2
4-72631201-T-C c.421A>G p.Asn141Asp Missense 4/13 - 1
4-72631202-TGT-GAC c.418_420delinsGTC p.Thr140Val Missense 4/13 - 1
4-72631207-G-C c.415C>G p.Pro139Ala Missense 4/13 - 2
4-72631207-G-GC c.414_415insG p.Pro139Alafs*4 Frameshift 4/13 - 1
4-72631208-T-C c.414A>G p.Glu138Glu Synonymous 4/13 - 1
4-72631208-T-G c.414A>C p.Glu138Asp Missense 4/13 - 1
4-72631208-T-A c.414A>T p.Glu138Asp Missense 4/13 - 1
4-72631209-T-G c.413A>C p.Glu138Ala Missense 4/13 - 3
4-72631209-TC-AC c.413delinsT p.Glu138Val Missense 4/13 - 1
4-72631210-C-T c.412G>A p.Glu138Lys Missense 4/13 - 5
4-72631210-C-CTGTTGTTGC c.412_413insCAACAACAG p.Val137_Glu138insAlaThrThr InFrameInsertion 4/13 - 1
4-72631212-A-G c.410T>C p.Val137Ala Missense 4/13 - 1
4-72631215-T-A c.407A>T p.Tyr136Phe Missense 4/13 - 6
4-72631215-T-G c.407A>C p.Tyr136Ser Missense 4/13 - 1
4-72631216-A-G c.406T>C p.Tyr136His Missense 4/13 - 1
4-72631216-A-ATGTTGTTGTTGT c.405_406insACAACAACAACA p.Thr135_Tyr136insThrThrThrThr InFrameInsertion 4/13 - 1
4-72631218-G-C c.404C>G p.Thr135Ser Missense 4/13 - 1
4-72631218-GT-CT c.404delinsG p.Thr135Ser Missense 4/13 - 1
4-72631218-GT-GG c.403delinsC p.Thr135Pro Missense 4/13 - 1
4-72631219-T-A c.403A>T p.Thr135Ser Missense 4/13 - 1
4-72631218-GT-TT c.404delinsA p.Thr135Asn Missense 4/13 - 1
4-72631219-T-G c.403A>C p.Thr135Pro Missense 4/13 - 2
4-72631221-G-A c.401C>T p.Pro134Leu Missense 4/13 - 1
4-72631222-G-A c.400C>T p.Pro134Ser Missense 4/13 - 1
4-72631224-AA-GC c.397_398delinsGC p.Phe133Ala Missense 4/13 - 1
4-72631226-ATTC-A c.394_396del p.Glu132del InFrameDeletion 4/13 - 1
4-72631226-TTC-TGT c.394_395delinsAC p.Glu132Thr Missense 4/13 - 1
4-72631227-T-A c.395A>T p.Glu132Val Missense 4/13 - 1
4-72631227-T-C c.395A>G p.Glu132Gly Missense 4/13 - 1
4-72631227-T-G c.395A>C p.Glu132Ala Missense 4/13 - 2
4-72631233-G-C c.389C>G p.Pro130Arg Missense 4/13 - 1
4-72631234-G-A c.388C>T p.Pro130Ser Missense 4/13 - 1
4-72631236-T-C c.386A>G p.Gln129Arg Missense 4/13 - 2
4-72631239-TG-GC c.382_383delinsGC p.His128Ala Missense 4/13 - 3
4-72631242-T-C c.380A>G p.Lys127Arg Missense 4/13 - 3
4-72631242-T-G c.380A>C p.Lys127Thr Missense 4/13 - 1
4-72631242-TT-GC c.379_380delinsGC p.Lys127Ala Missense 4/13 - 1
4-72631242-T-A c.380A>T p.Lys127Ile Missense 4/13 - 1
4-72631245-A-C c.377T>G p.Leu126Arg Missense 4/13 - 2
4-72631245-A-T c.377T>A p.Leu126Gln Missense 4/13 - 1
4-72631249-C-T c.373G>A p.Ala125Thr Missense 4/13 - 1
4-72631249-C-G c.373G>C p.Ala125Pro Missense 4/13 - 3
4-72631251-GC-TG c.370_371delinsCA p.Ala124His Missense 4/13 - 1
4-72631253-CAT-GAC c.367_369delinsGTC p.Met123Val Missense 4/13 - 1
4-72631254-AT-GA c.367_368delinsTC p.Met123Ser Missense 4/13 - 1
4-72631254-A-G c.368T>C p.Met123Thr Missense 4/13 - 2
4-72631254-AT-CA c.367_368delinsTG p.Met123Trp Missense 4/13 - 1
4-72631255-T-A c.367A>T p.Met123Leu Missense 4/13 - 1
4-72631255-T-G c.367A>C p.Met123Leu Missense 4/13 - 1
4-72631256-G-A c.366C>T p.Cys122Cys Synonymous 4/13 - 1
4-72631257-CA-GC c.364_365delinsGC p.Cys122Ala Missense 4/13 - 2
4-72631257-C-T c.365G>A p.Cys122Tyr Missense 4/13 - 1
4-72631258-A-G c.364T>C p.Cys122Arg Missense 4/13 - 2
4-72631260-A-G c.362T>C p.Leu121Pro Missense 4/13 - 1
4-72631263-TT-GC c.358_359delinsGC p.Lys120Ala Missense 4/13 - 1
4-72631266-C-A c.356G>T p.Arg119Leu Missense 4/13 - 1
4-72631269-T-A c.353A>T p.Glu118Val Missense 4/13 - 1
4-72631271-CAG-TGT c.349_351delinsACA p.Leu117Thr Missense 4/13 - 1
4-72631276-C-A c.346G>T p.Gly116Cys Missense 4/13 - 1
4-72631277-C-T c.345G>A p.Glu115Glu Synonymous 4/13 - 1
4-72631278-T-C c.344A>G p.Glu115Gly Missense 4/13 - 2
4-72631279-C-T c.343G>A p.Glu115Lys Missense 4/13 - 1
4-72631281-T-C c.341A>G p.Lys114Arg Missense 4/13 - 2
4-72631282-T-C c.340A>G p.Lys114Glu Missense 4/13 - 1
4-72631283-GG-TG c.339delinsA p.Thr113Thr Missense 4/13 - 3
4-72631285-T-A c.337A>T p.Thr113Ser Missense 4/13 - 1
4-72631284-G-C c.338C>G p.Thr113Ser Missense 4/13 - 1
4-72631285-T-G c.337A>C p.Thr113Pro Missense 4/13 - 1
4-72631287-CA-GC c.334_335delinsGC p.Cys112Ala Missense 4/13 - 2
4-72631287-CA-GA c.335delinsC p.Cys112Ser Missense 4/13 - 1
4-72631287-C-G c.335G>C p.Cys112Ser Missense 4/13 - 1
4-72631288-A-T c.334T>A p.Cys112Ser Missense 4/13 - 1
4-72631288-A-G c.334T>C p.Cys112Arg Missense 4/13 - 7
4-72631290-CA-GC c.331_332delinsGC p.Cys111Ala Missense 4/13 - 1
4-72631290-C-T c.332G>A p.Cys111Tyr Missense 4/13 - 1
4-72631291-A-C c.331T>G p.Cys111Gly Missense 4/13 - 1
4-72631292-C-G c.330G>C p.Glu110Asp Missense 4/13 - 1
4-72631292-C-A c.330G>T p.Glu110Asp Missense 4/13 - 1
4-72631293-T-C c.329A>G p.Glu110Gly Missense 4/13 - 1
4-72631293-T-G c.329A>C p.Glu110Ala Missense 4/13 - 2
4-72631294-C-G c.328G>C p.Glu110Gln Missense 4/13 - 2
4-72631294-C-T c.328G>A p.Glu110Lys Missense 4/13 - 2
4-72631296-GC-TT c.325_326delinsAA p.Ala109Asn Missense 4/13 - 11
4-72631296-GC-CG c.325_326delinsCG p.Ala109Arg Missense 4/13 - 2
4-72631296-G-C c.326C>G p.Ala109Gly Missense 4/13 - 1
4-72631297-C-A c.325G>T p.Ala109Ser Missense 4/13 - 2
4-72631299-G-T c.323C>A p.Thr108Asn Missense 4/13 - 1
4-72631300-T-C c.322A>G p.Thr108Ala Missense 4/13 - 2
4-72631302-C-G c.320G>C p.Gly107Ala Missense 4/13 - 2
4-72631303-C-A c.319G>T p.Gly107Cys Missense 4/13 - 1
4-72631303-C-G c.319G>C p.Gly107Arg Missense 4/13 - 2
4-72631305-G-A c.317C>T p.Pro106Leu Missense 4/13 - 3
4-72631306-G-A c.316C>T p.Pro106Ser Missense 4/13 - 2
4-72631307-GTG-AAG c.314_315delinsTT p.His105Leu Missense 4/13 - 1
4-72631308-TG-TT c.313delinsA p.His105Asn Missense 4/13 - 2
4-72631308-TG-GC c.313_314delinsGC p.His105Ala Missense 4/13 - 2
4-72631308-T-C c.314A>G p.His105Arg Missense 4/13 - 2
4-72631309-G-A c.313C>T p.His105Tyr Missense 4/13 - 8
4-72631312-C-T c.310G>A p.Val104Ile Missense 4/13 - 1
4-72631313-G-T c.309C>A p.Pro103Pro Synonymous 4/13 - 1
4-72631314-G-A c.308C>T p.Pro103Leu Missense 4/13 - 3
4-72631314-G-C c.308C>G p.Pro103Arg Missense 4/13 - 1
4-72631315-G-C c.307C>G p.Pro103Ala Missense 4/13 - 1
4-72631315-G-A c.307C>T p.Pro103Ser Missense 4/13 - 1
4-72631317-AA-GC c.304_305delinsGC p.Phe102Ala Missense 4/13 - 1
4-72631317-AA-CG c.304_305delinsCG p.Phe102Arg Missense 4/13 - 1
4-72631318-A-C c.304T>G p.Phe102Val Missense 4/13 - 1
4-72631319-T-TC c.302_303insG p.Phe102Ilefs*9 Frameshift 4/13 - 1
4-72631320-G-A c.302C>T p.Pro101Leu Missense 4/13 - 2
4-72631320-G-C c.302C>G p.Pro101Arg Missense 4/13 - 1
4-72631322-AG-GG c.300delinsC p.Ser100Ser Missense 4/13 - 2
4-72631322-A-G c.300T>C p.Ser100Ser Synonymous 4/13 - 1
4-72631322-A-C c.300T>G p.Ser100Ser Synonymous 4/13 - 1
4-72631322-A-T c.300T>A p.Ser100Ser Synonymous 4/13 - 1
4-72631323-G-C c.299C>G p.Ser100Cys Missense 4/13 - 2
4-72631323-GA-GG c.298delinsC p.Ser100Pro Missense 4/13 - 5
4-72631324-A-C c.298T>G p.Ser100Ala Missense 4/13 - 12
4-72631324-A-G c.298T>C p.Ser100Pro Missense 4/13 - 19
4-72631326-T-A c.296A>T p.Asn99Ile Missense 4/13 - 2
4-72631328-A-AT c.293_294insA p.Ser98Argfs*2 Frameshift 4/13 - 1
4-72631331-TTC-TGT c.289_290delinsAC p.Glu97Thr Missense 4/13 - 1
4-72631332-T-G c.290A>C p.Glu97Ala Missense 4/13 - 5
4-72631335-CA-GC c.286_287delinsGC p.Cys96Ala Missense 4/13 - 2
4-72631335-C-A c.287G>T p.Cys96Phe Missense 4/13 - 1
4-72631335-C-T c.287G>A p.Cys96Tyr Missense 4/13 - 3
4-72631338-GA-CG c.283_284delinsCG p.Ser95Arg Missense 4/13 - 1
4-72631338-GA-AA c.284delinsT p.Ser95Phe Missense 4/13 - 1
4-72631338-G-A c.284C>T p.Ser95Phe Missense 4/13 - 1
4-72631339-A-T c.283T>A p.Ser95Thr Missense 4/13 - 6
4-72631339-A-G c.283T>C p.Ser95Pro Missense 4/13 - 1
4-72631340-CTT-GAC c.280_282delinsGTC p.Lys94Val Missense 4/13 - 1
4-72631340-CT-TC c.281_282delinsGA p.Lys94Arg Missense 4/13 - 1
4-72631341-T-C c.281A>G p.Lys94Arg Missense 4/13 - 1
4-72631342-T-C c.280A>G p.Lys94Glu Missense 4/13 - 4
4-72631343-GG-AG c.279delinsT p.Ala93Ala Missense 4/13 - 2
4-72631343-GGC-TGG c.277_279delinsCCA p.Ala93Pro Missense 4/13 - 1
4-72631343-G-A c.279C>T p.Ala93Ala Synonymous 4/13 - 3
4-72631343-G-C c.279C>G p.Ala93Ala Synonymous 4/13 - 3
4-72631343-G-T c.279C>A p.Ala93Ala Synonymous 4/13 - 3
4-72631344-G-T c.278C>A p.Ala93Asp Missense 4/13 - 2
4-72631344-GC-TG c.277_278delinsCA p.Ala93His Missense 4/13 - 3
4-72631344-GC-TT c.277_278delinsAA p.Ala93Asn Missense 4/13 - 3
4-72631346-AG-AA c.275delinsT p.Ser92Phe Nonsense 4/13 - 1
4-72631347-GA-AA c.275delinsT p.Ser92Phe Missense 4/13 - 1
4-72631347-G-C c.275C>G p.Ser92Cys Missense 4/13 - 1
4-72631348-A-C c.274T>G p.Ser92Ala Missense 4/13 - 4
4-72631350-AG-GA c.271_272delinsTC p.Leu91Ser Missense 4/13 - 1
4-72631350-AG-GC c.271_272delinsGC p.Leu91Ala Missense 4/13 - 1
4-72631352-T-C c.270A>G p.Ala90Ala Synonymous 4/13 - 1
4-72631352-TGC-TTT c.268_269delinsAA p.Ala90Lys Missense 4/13 - 1
4-72631352-TG-AC c.269_270delinsGT p.Ala90Gly Missense 4/13 - 2
4-72631352-TGC-TGT c.268delinsA p.Ala90Thr Missense 4/13 - 3
4-72631353-G-T c.269C>A p.Ala90Glu Missense 4/13 - 2
4-72631353-G-C c.269C>G p.Ala90Gly Missense 4/13 - 3
4-72631354-C-T c.268G>A p.Ala90Thr Missense 4/13 - 1
4-72631357-A-C c.265T>G p.Ser89Ala Missense 4/13 - 1
4-72631357-A-T c.265T>A p.Ser89Thr Missense 4/13 - 1
4-72631359-G-C c.263C>G p.Thr88Ser Missense 4/13 - 2
4-72631359-GT-TG c.262_263delinsCA p.Thr88His Missense 4/13 - 1
4-72631360-T-A c.262A>T p.Thr88Ser Missense 4/13 - 2
4-72631668-G-A c.262-308C>T - IntronicSNV - 3/12 1
4-72631668-G-C c.262-308C>G - IntronicSNV - 3/12 1
4-72631735-T-C c.262-375A>G - IntronicSNV - 3/12 1
4-72631899-C-A c.262-539G>T - IntronicSNV - 3/12 1
4-72632931-C-T c.261+1087G>A - IntronicSNV - 3/12 5
4-72633772-T-A c.261+246A>T - IntronicSNV - 3/12 1
4-72634019-CT-GC c.259_260delinsGC p.Arg87Ala Missense 3/13 - 4
4-72634019-C-T c.260G>A p.Arg87Lys Missense 3/13 - 1
4-72634021-GG-TG c.258delinsA p.Thr86Thr Missense 3/13 - 1
4-72634023-T-A c.256A>T p.Thr86Ser Missense 3/13 - 7
4-72634022-G-C c.257C>G p.Thr86Ser Missense 3/13 - 7
4-72634022-G-A c.257C>T p.Thr86Ile Missense 3/13 - 5
4-72634022-GT-CT c.257delinsG p.Thr86Ser Missense 3/13 - 1
4-72634023-T-C c.256A>G p.Thr86Ala Missense 3/13 - 9
4-72634024-G-C c.255C>G p.Asp85Glu Missense 3/13 - 1
4-72634024-G-T c.255C>A p.Asp85Glu Missense 3/13 - 1
4-72634025-TC-TT c.253delinsA p.Asp85Asn Missense 3/13 - 1
4-72634025-TC-AG c.253_254delinsCT p.Asp85Leu Missense 3/13 - 1
4-72634025-T-G c.254A>C p.Asp85Ala Missense 3/13 - 3
4-72634025-T-C c.254A>G p.Asp85Gly Missense 3/13 - 1
4-72634026-C-T c.253G>A p.Asp85Asn Missense 3/13 - 2
4-72634028-T-C c.251A>G p.Tyr84Cys Missense 3/13 - 1
4-72634028-TA-GC c.250_251delinsGC p.Tyr84Ala Missense 3/13 - 2
4-72634029-A-AA c.250dup p.Tyr84Leufs*2 Frameshift 3/13 - 1
4-72634030-G-A c.249C>T p.Cys83Cys Synonymous 3/13 - 1
4-72634030-G-T c.249C>A p.Cys83* Nonsense 3/13 - 1
4-72634030-GCA-GAG c.247_248delinsCT p.Cys83Leu Missense 3/13 - 1
4-72634030-GCA-CAA c.248_249delinsTG p.Cys83Leu Missense 3/13 - 1
4-72634031-CA-AC c.247_248delinsGT p.Cys83Val Missense 3/13 - 1
4-72634031-CA-GC c.247_248delinsGC p.Cys83Ala Missense 3/13 - 1
4-72634034-T-C c.245A>G p.Asp82Gly Missense 3/13 - 2
4-72634035-C-T c.244G>A p.Asp82Asn Missense 3/13 - 1
4-72634036-A-G c.243T>C p.Pro81Pro Synonymous 3/13 - 1
4-72634037-G-A c.242C>T p.Pro81Leu Missense 3/13 - 1
4-72634039-G-C c.240C>G p.Asp80Glu Missense 3/13 - 1
4-72634039-G-T c.240C>A p.Asp80Glu Missense 3/13 - 1
4-72634040-T-G c.239A>C p.Asp80Ala Missense 3/13 - 1
4-72634040-TC-AT c.238_239delinsAT p.Asp80Ile Missense 3/13 - 1
4-72634041-C-G c.238G>C p.Asp80His Missense 3/13 - 1
4-72634041-C-T c.238G>A p.Asp80Asn Missense 3/13 - 4
4-72634042-A-G c.237T>C p.Ala79Ala Synonymous 3/13 - 1
4-72634042-A-C c.237T>G p.Ala79Ala Synonymous 3/13 - 1
4-72634042-A-T c.237T>A p.Ala79Ala Synonymous 3/13 - 1
4-72634043-G-T c.236C>A p.Ala79Asp Missense 3/13 - 2
4-72634043-GC-TG c.235_236delinsCA p.Ala79His Missense 3/13 - 1
4-72634043-GC-TT c.235_236delinsAA p.Ala79Asn Missense 3/13 - 2
4-72634044-C-G c.235G>C p.Ala79Pro Missense 3/13 - 1
4-72634044-C-T c.235G>A p.Ala79Thr Missense 3/13 - 1
4-72634045-CC-AC c.234delinsT p.Gly78Gly Missense 3/13 - 2
4-72634047-C-G c.232G>C p.Gly78Arg Missense 3/13 - 1
4-72634047-C-T c.232G>A p.Gly78Arg Missense 3/13 - 1
4-72634048-TTC-TGT c.229_230delinsAC p.Glu77Thr Missense 3/13 - 1
4-72634049-T-G c.230A>C p.Glu77Ala Missense 3/13 - 2
4-72634051-CGC-TTT c.226_228delinsAAA p.Ala76Lys Missense 3/13 - 3
4-72634051-CG-AC c.227_228delinsGT p.Ala76Gly Missense 3/13 - 2
4-72634051-CGC-TGT c.226_228delinsACA p.Ala76Thr Missense 3/13 - 2
4-72634051-C-G c.228G>C p.Ala76Ala Synonymous 3/13 - 3
4-72634051-C-T c.228G>A p.Ala76Ala Synonymous 3/13 - 3
4-72634051-C-A c.228G>T p.Ala76Ala Synonymous 3/13 - 3
4-72634052-G-T c.227C>A p.Ala76Glu Missense 3/13 - 5
4-72634052-G-C c.227C>G p.Ala76Gly Missense 3/13 - 1
4-72634055-CA-GC c.223_224delinsGC p.Cys75Ala Missense 3/13 - 1
4-72634057-GCA-GAG c.220_221delinsCT p.Cys74Leu Missense 3/13 - 1
4-72634058-CA-AC c.220_221delinsGT p.Cys74Val Missense 3/13 - 2
4-72634060-GG-AG c.219delinsT p.Ala73Ala Missense 3/13 - 4
4-72634060-G-A c.219C>T p.Ala73Ala Synonymous 3/13 - 4
4-72634060-G-C c.219C>G p.Ala73Ala Synonymous 3/13 - 4
4-72634060-G-T c.219C>A p.Ala73Ala Synonymous 3/13 - 4
4-72634061-GC-TT c.217_218delinsAA p.Ala73Asn Missense 3/13 - 2
4-72634061-GC-TG c.217_218delinsCA p.Ala73His Missense 3/13 - 8
4-72634061-G-T c.218C>A p.Ala73Asp Missense 3/13 - 3
4-72634061-G-C c.218C>G p.Ala73Gly Missense 3/13 - 4
4-72634062-C-T c.217G>A p.Ala73Thr Missense 3/13 - 2
4-72634063-T-G c.216A>C p.Glu72Asp Missense 3/13 - 2
4-72634063-T-A c.216A>T p.Glu72Asp Missense 3/13 - 2
4-72634064-T-G c.215A>C p.Glu72Ala Missense 3/13 - 4
4-72634065-C-T c.214G>A p.Glu72Lys Missense 3/13 - 1
4-72634067-G-T c.212C>A p.Thr71Asn Missense 3/13 - 1
4-72634068-T-C c.211A>G p.Thr71Ala Missense 3/13 - 2
4-72634070-AA-CA c.209delinsG p.Leu70Trp Missense 3/13 - 1
4-72634071-A-T c.208T>A p.Leu70Met Missense 3/13 - 1
4-72634074-A-C c.205T>G p.Ser69Ala Missense 3/13 - 1
4-72634075-GAC-TGG c.202_204delinsCCA p.Val68Pro Missense 3/13 - 1
4-72634075-GAC-ATG c.202_204delinsCAT p.Val68His Missense 3/13 - 3
4-72634075-GA-AG c.203_204delinsCT p.Val68Ala Missense 3/13 - 3
4-72634076-A-G c.203T>C p.Val68Ala Missense 3/13 - 11
4-72634076-A-T c.203T>A p.Val68Asp Missense 3/13 - 1
4-72634077-C-A c.202G>T p.Val68Phe Missense 3/13 - 6
4-72634077-C-G c.202G>C p.Val68Leu Missense 3/13 - 5
4-72634078-AA-AG c.200delinsC p.Val67Ala Missense 3/13 - 1
4-72634080-C-A c.199G>T p.Val67Phe Missense 3/13 - 1
4-72634080-C-T c.199G>A p.Val67Ile Missense 3/13 - 1
4-72634081-T-G c.198A>C p.Glu66Asp Missense 3/13 - 3
4-72634081-TTC-TGT c.196_197delinsAC p.Glu66Thr Missense 3/13 - 1
4-72634082-TC-CT c.196_197delinsAG p.Glu66Arg Missense 3/13 - 1
4-72634083-C-G c.196G>C p.Glu66Gln Missense 3/13 - 3
4-72634084-C-G c.195G>C p.Lys65Asn Missense 3/13 - 2
4-72634084-C-A c.195G>T p.Lys65Asn Missense 3/13 - 2
4-72634084-C-T c.195G>A p.Lys65Lys Synonymous 3/13 - 1
4-72634085-T-A c.194A>T p.Lys65Met Missense 3/13 - 1
4-72634085-T-C c.194A>G p.Lys65Arg Missense 3/13 - 12
4-72634086-TT-T c.194del p.Lys65Argfs*6 Frameshift 3/13 - 1
4-72634086-T-C c.193A>G p.Lys65Glu Missense 3/13 - 1
4-72634087-TC-T c.192del p.Lys65Argfs*6 Frameshift 3/13 - 1
4-72634088-A-G c.191T>C p.Val64Ala Missense 3/13 - 2
4-72634091-A-G c.188T>C p.Leu63Pro Missense 3/13 - 2
4-72634092-G-A c.187C>T p.Leu63Phe Missense 3/13 - 2
4-72634094-T-C c.185A>G p.Gln62Arg Missense 3/13 - 1
4-72634097-C-G c.182G>C p.Ser61Thr Missense 3/13 - 1
4-72634097-CT-GC c.181_182delinsGC p.Ser61Ala Missense 3/13 - 5
4-72634097-CT-TT c.182delinsA p.Ser61Asn Missense 3/13 - 1
4-72634098-T-A c.181A>T p.Ser61Cys Missense 3/13 - 1
4-72634100-A-C c.179T>G p.Val60Gly Missense 3/13 - 1
4-72634101-C-T c.178G>A p.Val60Ile Missense 3/13 - 1
4-72634101-C-A c.178G>T p.Val60Phe Missense 3/13 - 1
4-72634103-T-G c.176A>C p.Gln59Pro Missense 3/13 - 1
4-72634103-TG-GC c.175_176delinsGC p.Gln59Ala Missense 3/13 - 1
4-72634104-G-GCTGCTGCTGCTGCTA c.174_175insTAGCAGCAGCAGCAG p.Glu58_Gln59ins* Nonsense 3/13 - 1
4-72634104-G-C c.175C>G p.Gln59Glu Missense 3/13 - 1
4-72634104-G-GCTA c.174_175insTAG p.Glu58_Gln59ins* Nonsense 3/13 - 1
4-72634105-TTC-TGT c.172_173delinsAC p.Glu58Thr Missense 3/13 - 1
4-72634105-T-C c.174A>G p.Glu58Glu Synonymous 3/13 - 2
4-72634106-T-G c.173A>C p.Glu58Ala Missense 3/13 - 1
4-72634107-C-G c.172G>C p.Glu58Gln Missense 3/13 - 2
4-72634109-AA-GC c.169_170delinsGC p.Phe57Ala Missense 3/13 - 1
4-72634109-AA-GA c.170delinsC p.Phe57Ser Missense 3/13 - 1
4-72634109-AA-CG c.169_170delinsCG p.Phe57Arg Missense 3/13 - 1
4-72634111-C-T c.168G>A p.Thr56Thr Synonymous 3/13 - 1
4-72634114-GCC-TGG c.163_165delinsCCA p.Gly55Pro Missense 3/13 - 1
4-72634115-C-G c.164G>C p.Gly55Ala Missense 3/13 - 1
4-72634116-C-A c.163G>T p.Gly55Cys Missense 3/13 - 1
4-72634117-CACT-C c.160_162del p.Ser54del InFrameDeletion 3/13 - 1
4-72634118-CT-GC c.160_161delinsGC p.Ser54Ala Missense 3/13 - 3
4-72634119-T-A c.160A>T p.Ser54Cys Missense 3/13 - 1
4-72634120-GGG-TGG c.159delinsA p.Pro53Pro Missense 3/13 - 1
4-72634121-GG-TT c.157_158delinsAA p.Pro53Asn Missense 3/13 - 2
4-72634121-GG-TG c.158delinsA p.Pro53His Missense 3/13 - 1
4-72634122-G-A c.157C>T p.Pro53Ser Missense 3/13 - 2
4-72634122-G-C c.157C>G p.Pro53Ala Missense 3/13 - 1
4-72634123-A-G c.156T>C p.Phe52Phe Synonymous 3/13 - 1
4-72634124-AA-CG c.154_155delinsCG p.Phe52Arg Missense 3/13 - 1
4-72634124-AA-GC c.154_155delinsGC p.Phe52Ala Missense 3/13 - 2
4-72634124-A-C c.155T>G p.Phe52Cys Missense 3/13 - 2
4-72634125-A-G c.154T>C p.Phe52Leu Missense 3/13 - 2
4-72634125-A-C c.154T>G p.Phe52Val Missense 3/13 - 1
4-72634127-TT-GC c.151_152delinsGC p.Lys51Ala Missense 3/13 - 4
4-72634128-T-C c.151A>G p.Lys51Glu Missense 3/13 - 2
4-72634129-T-C c.150A>G p.Arg50Arg Synonymous 3/13 - 1
4-72634129-TCT-GAC c.148_150delinsGTC p.Arg50Val Missense 3/13 - 1
4-72634129-TCT-CAT c.149_150delinsTG p.Arg50Met Missense 3/13 - 2
4-72634130-CT-GC c.148_149delinsGC p.Arg50Ala Missense 3/13 - 3
4-72634131-T-G c.148A>C p.Arg50Arg Synonymous 3/13 - 2
4-72634132-ACT-TGA c.145_147delinsTCA p.Ser49Ser Nonsense 3/13 - 1
4-72634134-T-A c.145A>T p.Ser49Cys Missense 3/13 - 2
4-72634134-T-C c.145A>G p.Ser49Gly Missense 3/13 - 2
4-72634140-G-A c.139C>T p.Leu47Leu Synonymous 3/13 - 1
4-72634142-A-G c.137T>C p.Val46Ala Missense 3/13 - 2
4-72634144-TAG-TTT c.133_134delinsAA p.Leu45Lys Missense 3/13 - 1
4-72634145-AG-GC c.133_134delinsGC p.Leu45Ala Missense 3/13 - 2
4-72634145-AG-TC c.133_134delinsGA p.Leu45Glu Missense 3/13 - 1
4-72634145-TAGT-T c.133_135del p.Leu45del InFrameDeletion 3/13 - 1
4-72634146-G-C c.133C>G p.Leu45Val Missense 3/13 - 1
4-72634149-GACCTGAGGGGAAAATAAGACAATATATCAATTAGAACTGAAAGGTTTTTTTTTTTGAGA-G c.129-57_130del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/13 2/12 1
4-72634149-A-C c.130T>G p.Ser44Ala Missense 3/13 - 3
4-72634900-C-T c.128+148G>A - IntronicSNV - 2/12 1
4-72634970-G-A c.128+78C>T - IntronicSNV - 2/12 1
4-72634975-G-A c.128+73C>T - IntronicSNV - 2/12 10
4-72635048-AG-TC c.127_128delinsGA p.Leu43Glu Missense 2/13 - 1
4-72635048-AG-AA c.127delinsT p.Leu43Leu Missense 2/13 - 1
4-72635051-G-T c.125C>A p.Ser42Tyr Missense 2/13 - 1
4-72635051-GA-CT c.124_125delinsAG p.Ser42Ser Missense 2/13 - 1
4-72635052-A-C c.124T>G p.Ser42Ala Missense 2/13 - 2
4-72635053-ATGT-A c.121_123del p.Thr41del InFrameDeletion 2/13 - 1
4-72635055-T-C c.121A>G p.Thr41Ala Missense 2/13 - 1
4-72635056-GAA-GAG c.118delinsC p.Phe40Leu Missense 2/13 - 1
4-72635059-G-C c.117C>G p.Asp39Glu Missense 2/13 - 2
4-72635059-G-A c.117C>T p.Asp39Asp Synonymous 2/13 - 2
4-72635059-G-T c.117C>A p.Asp39Glu Missense 2/13 - 2
4-72635060-TC-TT c.115delinsA p.Asp39Asn Missense 2/13 - 1
4-72635060-TC-TG c.115delinsC p.Asp39His Missense 2/13 - 1
4-72635060-T-A c.116A>T p.Asp39Val Missense 2/13 - 2
4-72635060-TC-AG c.115_116delinsCT p.Asp39Leu Missense 2/13 - 1
4-72635063-T-C c.113A>G p.Glu38Gly Missense 2/13 - 1
4-72635063-T-G c.113A>C p.Glu38Ala Missense 2/13 - 6
4-72635064-C-T c.112G>A p.Glu38Lys Missense 2/13 - 2
4-72635065-C-CG c.110_111insC p.Lys37Asnfs*14 Frameshift 2/13 - 1
4-72635066-TT-GC c.109_110delinsGC p.Lys37Ala Missense 2/13 - 4
4-72635067-T-G c.109A>C p.Lys37Gln Missense 2/13 - 2
4-72635068-TCC-AGC c.107_108delinsCT p.Gly36Ala Missense 2/13 - 1
4-72635068-T-G c.108A>C p.Gly36Gly Synonymous 2/13 - 1
4-72635068-T-A c.108A>T p.Gly36Gly Synonymous 2/13 - 1
4-72635068-T-C c.108A>G p.Gly36Gly Synonymous 2/13 - 1
4-72635068-TCC-TGT c.106_107delinsAC p.Gly36Thr Missense 2/13 - 3
4-72635069-C-T c.107G>A p.Gly36Glu Missense 2/13 - 1
4-72635069-C-G c.107G>C p.Gly36Ala Missense 2/13 - 5
4-72635069-CC-AC c.107delinsT p.Gly36Val Missense 2/13 - 1
4-72635070-C-A c.106G>T p.Gly36* Nonsense 2/13 - 1
4-72635072-A-G c.104T>C p.Leu35Pro Missense 2/13 - 7
4-72635072-A-C c.104T>G p.Leu35Arg Missense 2/13 - 1
4-72635072-AG-GA c.103_104delinsTC p.Leu35Ser Missense 2/13 - 2
4-72635072-AG-GC c.103_104delinsGC p.Leu35Ala Missense 2/13 - 5
4-72635074-A-G c.102T>C p.His34His Synonymous 2/13 - 1
4-72635075-T-C c.101A>G p.His34Arg Missense 2/13 - 1
4-72635075-TG-GG c.101delinsC p.His34Pro Missense 2/13 - 2
4-72635075-TG-GC c.100_101delinsGC p.His34Ala Missense 2/13 - 3
4-72635076-G-C c.100C>G p.His34Asp Missense 2/13 - 2
4-72635078-GA-GG c.97delinsC p.Ser33Pro Missense 2/13 - 2
4-72635078-G-T c.98C>A p.Ser33Tyr Missense 2/13 - 4
4-72635079-A-C c.97T>G p.Ser33Ala Missense 2/13 - 4
4-72635080-AGAA-A c.95_97del p.Phe32del InFrameDeletion 2/13 - 1
4-72635081-A-G c.95T>C p.Phe32Ser Missense 2/13 - 1
4-72635080-G-C c.96C>G p.Phe32Leu Missense 2/13 - 1
4-72635080-G-T c.96C>A p.Phe32Leu Missense 2/13 - 1
4-72635082-A-T c.94T>A p.Phe32Ile Missense 2/13 - 1
4-72635082-A-G c.94T>C p.Phe32Leu Missense 2/13 - 1
4-72635083-T-A c.93A>T p.Glu31Asp Missense 2/13 - 3
4-72635083-T-G c.93A>C p.Glu31Asp Missense 2/13 - 3
4-72635084-T-G c.92A>C p.Glu31Ala Missense 2/13 - 3
4-72635087-TT-GC c.88_89delinsGC p.Lys30Ala Missense 2/13 - 4
4-72635087-T-G c.89A>C p.Lys30Thr Missense 2/13 - 1
4-72635088-T-G c.88A>C p.Lys30Gln Missense 2/13 - 1
4-72635088-T-C c.88A>G p.Lys30Glu Missense 2/13 - 1
4-72635089-GCA-GAG c.85_86delinsCT p.Cys29Leu Missense 2/13 - 1
4-72635090-C-A c.86G>T p.Cys29Phe Missense 2/13 - 2
4-72635090-CA-GA c.86delinsC p.Cys29Ser Missense 2/13 - 1
4-72635090-CA-GC c.85_86delinsGC p.Cys29Ala Missense 2/13 - 3
4-72635090-CA-AC c.85_86delinsGT p.Cys29Val Missense 2/13 - 3
4-72635090-C-G c.86G>C p.Cys29Ser Missense 2/13 - 2
4-72635091-A-T c.85T>A p.Cys29Ser Missense 2/13 - 2
4-72635093-A-C c.83T>G p.Val28Gly Missense 2/13 - 1
4-72635095-TT-TG c.80delinsC p.Lys27Thr Missense 2/13 - 6
4-72635097-T-C c.79A>G p.Lys27Glu Missense 2/13 - 2
4-72635102-TT-GC c.73_74delinsGC p.Lys25Ala Missense 2/13 - 2
4-72635102-T-C c.74A>G p.Lys25Arg Missense 2/13 - 1
4-72635104-TTC-TTT c.70delinsA p.Glu24Lys Missense 2/13 - 1
4-72635105-TC-AG c.70_71delinsCT p.Glu24Leu Missense 2/13 - 1
4-72635105-T-G c.71A>C p.Glu24Ala Missense 2/13 - 1
4-72635105-T-C c.71A>G p.Glu24Gly Missense 2/13 - 1
4-72635106-C-A c.70G>T p.Glu24* Nonsense 2/13 - 1
4-72635108-TA-GC c.67_68delinsGC p.Tyr23Ala Missense 2/13 - 2
4-72635109-A-C c.67T>G p.Tyr23Asp Missense 2/13 - 2
4-72635110-ATC-ATG c.64delinsC p.Asp22His Missense 2/13 - 1
4-72635111-T-C c.65A>G p.Asp22Gly Missense 2/13 - 1
4-72635112-C-T c.64G>A p.Asp22Asn Missense 2/13 - 1
4-72635113-CCG-TTT c.61_63delinsAAA p.Arg21Lys Missense 2/13 - 1
4-72635114-C-A c.62G>T p.Arg21Leu Missense 2/13 - 2
4-72635114-C-T c.62G>A p.Arg21Gln Missense 2/13 - 1
4-72635114-CG-GA c.61_62delinsTC p.Arg21Ser Missense 2/13 - 1
4-72635114-CG-GC c.61_62delinsGC p.Arg21Ala Missense 2/13 - 1
4-72635114-CG-TA c.61_62delinsTA p.Arg21* Nonsense 2/13 - 1
4-72635116-GC-AG c.59_60delinsCT p.Gly20Ala Missense 2/13 - 1
4-72635117-C-G c.59G>C p.Gly20Ala Missense 2/13 - 3
4-72635117-C-T c.59G>A p.Gly20Asp Missense 2/13 - 1
4-72635512-A-T c.59-395T>A - IntronicSNV - 1/12 1
4-72636272-C-T c.59-1155G>A - IntronicSNV - 1/12 21
4-72638824-C-A c.59-3707G>T - IntronicSNV - 1/12 5
4-72638824-C-T c.59-3707G>A - IntronicSNV - 1/12 5
4-72639282-C-T c.59-4165G>A - IntronicSNV - 1/12 1
4-72640443-T-G c.59-5326A>C - IntronicSNV - 1/12 1
4-72641279-T-C c.59-6162A>G - IntronicSNV - 1/12 2
4-72642954-T-C c.58+6724A>G - IntronicSNV - 1/12 3
4-72643488-T-C c.58+6190A>G - IntronicSNV - 1/12 55
4-72643488-T-A c.58+6190A>T - IntronicSNV - 1/12 55
4-72644962-G-A c.58+4716C>T - IntronicSNV - 1/12 7
4-72647749-C-T c.58+1929G>A - IntronicSNV - 1/12 9
4-72647762-A-G c.58+1916T>C - IntronicSNV - 1/12 2
4-72648851-A-G c.58+827T>C - IntronicSNV - 1/12 27
4-72648939-A-G c.58+739T>C - IntronicSNV - 1/12 1
4-72649048-A-G c.58+630T>C - IntronicSNV - 1/12 1
4-72649678-C-A c.58G>T p.Gly20Cys Missense 1/13 - 3
4-72649678-C-G c.58G>C p.Gly20Arg Missense 1/13 - 1
4-72649679-TCT-TTT c.56delinsA p.Arg19Lys Missense 1/13 - 2
4-72649680-CT-GA c.55_56delinsTC p.Arg19Ser Missense 1/13 - 1
4-72649680-CT-GC c.55_56delinsGC p.Arg19Ala Missense 1/13 - 4
4-72649682-C-T c.54G>A p.Glu18Glu Synonymous 1/13 - 1
4-72649683-TC-TG c.52delinsC p.Glu18Gln Missense 1/13 - 1
4-72649683-T-G c.53A>C p.Glu18Ala Missense 1/13 - 4
4-72649683-T-C c.53A>G p.Glu18Gly Missense 1/13 - 1
4-72649684-C-A c.52G>T p.Glu18* Nonsense 1/13 - 1
4-72649686-A-G c.50T>C p.Leu17Ser Missense 1/13 - 1
4-72649686-AA-GG c.49_50delinsCC p.Leu17Pro Missense 1/13 - 1
4-72649686-AA-GC c.49_50delinsGC p.Leu17Ala Missense 1/13 - 1
4-72649686-AA-GA c.50delinsC p.Leu17Ser Missense 1/13 - 2
4-72649688-AGC-TAA c.46_48delinsTTA p.Ala16Leu Nonsense 1/13 - 2
4-72649689-GC-CG c.46_47delinsCG p.Ala16Arg Missense 1/13 - 3
4-72649689-GC-TT c.46_47delinsAA p.Ala16Asn Missense 1/13 - 1
4-72649689-GC-TG c.46_47delinsCA p.Ala16His Missense 1/13 - 3
4-72649689-G-A c.47C>T p.Ala16Val Missense 1/13 - 3
4-72649689-G-C c.47C>G p.Ala16Gly Missense 1/13 - 1
4-72649689-G-T c.47C>A p.Ala16Asp Missense 1/13 - 4
4-72649689-AGCA-A c.46_48del p.Ala16del InFrameDeletion 1/13 - 1
4-72649690-C-A c.46G>T p.Ala16Ser Missense 1/13 - 2
4-72649690-C-T c.46G>A p.Ala16Thr Missense 1/13 - 2
4-72649690-GCAT-G c.44_46del p.His15_Ala16delinsPro MultiAAMissense 1/13 - 1
4-72649691-ATG-GAG c.44_45delinsTC p.His15Leu Missense 1/13 - 1
4-72649692-T-C c.44A>G p.His15Arg Missense 1/13 - 1
4-72649692-TG-GC c.43_44delinsGC p.His15Ala Missense 1/13 - 34
4-72649692-TG-TT c.43delinsA p.His15Asn Missense 1/13 - 1
4-72649693-G-C c.43C>G p.His15Asp Missense 1/13 - 4
4-72649694-TC-AC c.42delinsT p.Gly14Gly Missense 1/13 - 1
4-72649694-TCC-TGT c.40_41delinsAC p.Gly14Thr Missense 1/13 - 6
4-72649695-C-G c.41G>C p.Gly14Ala Missense 1/13 - 4
4-72649695-CC-AC c.41delinsT p.Gly14Val Missense 1/13 - 1
4-72649698-AA-GC c.37_38delinsGC p.Phe13Ala Missense 1/13 - 8
4-72649698-AA-CA c.38delinsG p.Phe13Cys Missense 1/13 - 1
4-72649698-A-T c.38T>A p.Phe13Tyr Missense 1/13 - 1
4-72649699-A-C c.37T>G p.Phe13Val Missense 1/13 - 1
4-72649699-A-G c.37T>C p.Phe13Leu Missense 1/13 - 4
4-72649697-A-T c.39T>A p.Phe13Leu Missense 1/13 - 4
4-72649697-A-C c.39T>G p.Phe13Leu Missense 1/13 - 4
4-72649700-TGC-TTT c.34_35delinsAA p.Ala12Lys Missense 1/13 - 3
4-72649700-TGC-CAT c.34_36delinsATG p.Ala12Met Missense 1/13 - 2
4-72649700-TGC-AAC c.35_36delinsTT p.Ala12Val Missense 1/13 - 2
4-72649700-T-G c.36A>C p.Ala12Ala Synonymous 1/13 - 4
4-72649700-TG-AC c.35_36delinsGT p.Ala12Gly Missense 1/13 - 2
4-72649700-T-C c.36A>G p.Ala12Ala Synonymous 1/13 - 4
4-72649700-T-A c.36A>T p.Ala12Ala Synonymous 1/13 - 4
4-72649701-GC-CT c.34_35delinsAG p.Ala12Arg Missense 1/13 - 2
4-72649701-G-T c.35C>A p.Ala12Glu Missense 1/13 - 3
4-72649701-G-C c.35C>G p.Ala12Gly Missense 1/13 - 2
4-72649702-C-T c.34G>A p.Ala12Thr Missense 1/13 - 6
4-72649702-C-A c.34G>T p.Ala12Ser Missense 1/13 - 1
4-72649702-C-G c.34G>C p.Ala12Pro Missense 1/13 - 2
4-72649703-CAC-CAT c.31delinsA p.Val11Met Missense 1/13 - 1
4-72649705-C-A c.31G>T p.Val11Leu Missense 1/13 - 1
4-72649705-C-CGCCGTCTTGACAG c.30_31insCTGTCAAGACGGC p.Val11Leufs*18 Frameshift 1/13 - 1
4-72649705-C-G c.31G>C p.Val11Leu Missense 1/13 - 1
4-72649706-AGC-CAA c.28_30delinsTTG p.Ala10Leu Missense 1/13 - 1
4-72649706-A-C c.30T>G p.Ala10Ala Synonymous 1/13 - 6
4-72649706-A-G c.30T>C p.Ala10Ala Synonymous 1/13 - 6
4-72649706-A-T c.30T>A p.Ala10Ala Synonymous 1/13 - 6
4-72649707-GC-TT c.28_29delinsAA p.Ala10Asn Missense 1/13 - 1
4-72649707-GC-TG c.28_29delinsCA p.Ala10His Missense 1/13 - 3
4-72649707-GC-TA c.28_29delinsTA p.Ala10Tyr Missense 1/13 - 1
4-72649707-GC-CT c.28_29delinsAG p.Ala10Ser Missense 1/13 - 6
4-72649707-G-C c.29C>G p.Ala10Gly Missense 1/13 - 2
4-72649707-G-A c.29C>T p.Ala10Val Missense 1/13 - 1
4-72649707-G-T c.29C>A p.Ala10Asp Missense 1/13 - 1
4-72649708-C-A c.28G>T p.Ala10Ser Missense 1/13 - 1
4-72649708-C-G c.28G>C p.Ala10Pro Missense 1/13 - 2
4-72649708-GCAAGCAG-G c.25_31del p.Leu9Trpfs*7 Frameshift 1/13 - 1
4-72649710-A-G c.26T>C p.Leu9Pro Missense 1/13 - 1
4-72649722-AG-TC c.13_14delinsGA p.Leu5Glu Missense 1/13 - 1
4-72649727-C-T c.9G>A p.Arg3Arg Synonymous 1/13 - 4
4-72649733-TCAT-T c.2_4del p.Met1? CdsStartDeletion 1/13 - 1
4-72649733-C-A c.3G>T p.Met1? Missense 1/13 - 1
4-72649734-A-C c.2T>G p.Met1? Missense 1/13 - 1
4-72649774-G-A c.-39C>T - 5-UTRSNV 1/13 - 13