MSH6 mutS homolog 6

Canonical transcript: NM_000179

731 unique variant annotations were identified in 426 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
2-48010297-G-T c.-76G>T - 5-UTRSNV 1/10 - 1
2-48010373-A-C c.1A>C p.Met1? Missense 1/10 - 1
2-48010373-A-G c.1A>G p.Met1? Missense 1/10 - 1
2-48010373-TATGTCGCGACAGAGCACCCTGTACAGCTTCTTCCCCAAGTCTCCGGCGCTGAGTGATGC-T c.1_59del p.Met1_?20 Multi:SpliceDonorDeletion,CdsStartDeletion 1/10 - 1
2-48010379-C-T c.7C>T p.Arg3* Nonsense 1/10 - 1
2-48010382-C-T c.10C>T p.Gln4* Nonsense 1/10 - 3
2-48010395-TACAG-T c.23_26del p.Tyr8Serfs*9 Frameshift 1/10 - 1
2-48010403-TT-CG c.31_32delinsCG p.Phe11Arg Missense 1/10 - 1
2-48010403-TT-AA c.31_32inv p.Phe11Asn Missense 1/10 - 1
2-48010406-C-T c.34C>T p.Pro12Ser Missense 1/10 - 1
2-48010410-A-C c.38A>C p.Lys13Thr Missense 1/10 - 1
2-48010412-T-G c.40T>G p.Ser14Ala Missense 1/10 - 2
2-48010413-C-T c.41C>T p.Ser14Phe Missense 1/10 - 1
2-48010416-C-T c.44C>T p.Pro15Leu Missense 1/10 - 1
2-48010418-GCG-TAT c.46_48delinsTAT p.Ala16Tyr Missense 1/10 - 1
2-48010418-G-A c.46G>A p.Ala16Thr Missense 1/10 - 1
2-48010421-CT-GC c.49_50delinsGC p.Leu17Ala Missense 1/10 - 1
2-48010431-C-T c.59C>T p.Ala20Val Missense 1/10 - 1
2-48010443-C-A c.71C>A p.Ser24* Nonsense 1/10 - 1
2-48010445-G-T c.73G>T p.Ala25Ser Missense 1/10 - 4
2-48010446-C-T c.74C>T p.Ala25Val Missense 1/10 - 1
2-48010448-A-C c.76A>C p.Arg26Arg Synonymous 1/10 - 1
2-48010450-G-A c.78G>A p.Arg26Arg Synonymous 1/10 - 1
2-48010455-C-T c.83C>T p.Ser28Leu Missense 1/10 - 1
2-48010458-G-C c.86G>C p.Arg29Pro Missense 1/10 - 1
2-48010467-G-A c.95G>A p.Gly32Asp Missense 1/10 - 1
2-48010467-GC-AG c.95_96delinsAG p.Gly32Glu Missense 1/10 - 1
2-48010469-C-T c.97C>T p.Arg33Cys Missense 1/10 - 1
2-48010479-C-T c.107C>T p.Ala36Val Missense 1/10 - 2
2-48010488-G-C c.116G>C p.Gly39Ala Missense 1/10 - 10
2-48010488-G-A c.116G>A p.Gly39Glu Missense 1/10 - 46
2-48010488-G-T c.116G>T p.Gly39Val Missense 1/10 - 9
2-48010496-C-T c.124C>T p.Pro42Ser Missense 1/10 - 2
2-48010496-C-G c.124C>G p.Pro42Ala Missense 1/10 - 2
2-48010496-C-A c.124C>A p.Pro42Thr Missense 1/10 - 1
2-48010497-C-T c.125C>T p.Pro42Leu Missense 1/10 - 1
2-48010506-G-A c.134G>A p.Gly45Asp Missense 1/10 - 1
2-48010509-G-T c.137G>T p.Gly46Val Missense 1/10 - 1
2-48010514-GCG-TGT c.142_144delinsTGT p.Ala48Cys Missense 1/10 - 1
2-48010522-G-C c.150G>C p.Trp50Cys Missense 1/10 - 1
2-48010530-C-A c.158C>A p.Ala53Asp Missense 1/10 - 1
2-48010546-G-T c.174G>T p.Arg58Ser Missense 1/10 - 1
2-48010546-G-C c.174G>C p.Arg58Ser Missense 1/10 - 1
2-48010558-C-A c.186C>A p.Arg62Arg Synonymous 1/10 - 4
2-48010563-CG-AC c.191_192delinsAC p.Ala64Asp Missense 1/10 - 1
2-48010565-T-A c.193T>A p.Ser65Thr Missense 1/10 - 1
2-48010566-C-T c.194C>T p.Ser65Leu Missense 1/10 - 1
2-48010582-G-T c.210G>T p.Lys70Asn Missense 1/10 - 1
2-48010627-C-CC c.255dup p.Thr86Hisfs*4 Frameshift 1/10 - 2
2-48010628-A-C c.256A>C p.Thr86Pro Missense 1/10 - 1
2-48010654-C-G c.260+22C>G - IntronicSNV - 1/9 1
2-48012846-C-T c.260+2214C>T - IntronicSNV - 1/9 4
2-48013099-A-G c.260+2467A>G - IntronicSNV - 1/9 1
2-48013238-G-T c.260+2606G>T - IntronicSNV - 1/9 1
2-48013238-G-C c.260+2606G>C - IntronicSNV - 1/9 1
2-48016353-G-A c.261-1713G>A - IntronicSNV - 1/9 1
2-48016896-G-A c.261-1170G>A - IntronicSNV - 1/9 1
2-48016896-G-T c.261-1170G>T - IntronicSNV - 1/9 1
2-48016896-G-C c.261-1170G>C - IntronicSNV - 1/9 1
2-48017768-C-A c.261-298C>A - IntronicSNV - 1/9 1
2-48018030-A-G c.261-36A>G - IntronicSNV - 1/9 1
2-48018081-A-G c.276A>G p.Pro92Pro Synonymous 2/10 - 17
2-48018081-A-T c.276A>T p.Pro92Pro Synonymous 2/10 - 5
2-48018081-A-C c.276A>C p.Pro92Pro Synonymous 2/10 - 5
2-48018102-AG-A c.297del p.Met100Trpfs*49 Frameshift 2/10 - 1
2-48018112-TA-GC c.307_308delinsGC p.Tyr103Ala Missense 2/10 - 1
2-48018116-C-A c.311C>A p.Pro104His Missense 2/10 - 1
2-48018130-C-G c.325C>G p.Leu109Val Missense 2/10 - 1
2-48018140-A-G c.335A>G p.Asn112Ser Missense 2/10 - 2
2-48018164-T-C c.359T>C p.Ile120Thr Missense 2/10 - 1
2-48018167-G-A c.362G>A p.Arg121His Missense 2/10 - 1
2-48018178-A-C c.373A>C p.Lys125Gln Missense 2/10 - 1
2-48018187-C-G c.382C>G p.Arg128Gly Missense 2/10 - 1
2-48018188-G-T c.383G>T p.Arg128Leu Missense 2/10 - 4
2-48018202-TT-GC c.397_398delinsGC p.Phe133Ala Missense 2/10 - 1
2-48018236-G-T c.431G>T p.Ser144Ile Missense 2/10 - 12
2-48018242-G-C c.437G>C p.Arg146Thr Missense 2/10 - 1
2-48018245-T-A c.440T>A p.Leu147His Missense 2/10 - 1
2-48018275-A-G c.457+13A>G - IntronicSNV - 2/9 1
2-48018314-T-A c.457+52T>A - IntronicSNV - 2/9 1
2-48019485-T-C c.457+1223T>C - IntronicSNV - 2/9 6
2-48022981-G-T c.458-52G>T - IntronicSNV - 2/9 3
2-48023034-T-TCG c.459_460insCG p.Ser154Argfs*21 SpliceAcceptorInsertion 3/10 - 1
2-48023034-GTTCAAAATCAAAGGAAGCCCAGAAGGGAGGTCATTTTTACAGTGCAAAGCCTGAAATAC-G c.460_518del p.Ser154Glufs*8 SpliceAcceptorDeletion 3/10 - 1
2-48023035-TTCAAAATCAAAGGAAGCCCAGAAGGGAGGTCATTTTTACAGTGCAAAGCCTGAAATACT-T c.460_518del p.Ser154Glufs*8 Unclassified 3/10 - 1
2-48023042-C-G c.467C>G p.Ser156* Nonsense 3/10 - 3
2-48023051-C-T c.476C>T p.Ala159Val Missense 3/10 - 1
2-48023053-C-T c.478C>T p.Gln160* Nonsense 3/10 - 1
2-48023056-AA-GC c.481_482delinsGC p.Lys161Ala Missense 3/10 - 1
2-48023057-AAG-A c.482_483del p.Lys161Argfs*10 Frameshift 3/10 - 1
2-48023076-GT-G c.501del p.Ser167Argfs*7 Frameshift 3/10 - 1
2-48023090-T-TT c.515dup p.Leu173Thrfs*9 Frameshift 3/10 - 1
2-48023103-TGC-T c.528_529del p.Met176Ilefs*5 Frameshift 3/10 - 1
2-48023107-C-T c.532C>T p.Arg178Cys Missense 3/10 - 1
2-48023108-G-A c.533G>A p.Arg178His Missense 3/10 - 1
2-48023113-GA-TT c.538_539delinsTT p.Asp180Phe Missense 3/10 - 1
2-48023115-T-G c.540T>G p.Asp180Glu Missense 3/10 - 6
2-48023115-T-C c.540T>C p.Asp180Asp Synonymous 3/10 - 15
2-48023122-TT-CC c.547_548delinsCC p.Leu183Pro Missense 3/10 - 1
2-48023135-A-AA c.560dup p.Ile188Aspfs*2 Frameshift 3/10 - 1
2-48023135-A-C c.560A>C p.Lys187Thr Missense 3/10 - 1
2-48023140-A-G c.565A>G p.Lys189Glu Missense 3/10 - 1
2-48023140-AA-GC c.565_566delinsGC p.Lys189Ala Missense 3/10 - 1
2-48023143-AG-TA c.568_569delinsTA p.Arg190* Nonsense 3/10 - 1
2-48023146-CT-GC c.571_572delinsGC p.Leu191Ala Missense 3/10 - 1
2-48023172-CC-C c.597del p.Ser200Glnfs*11 Frameshift 3/10 - 1
2-48023176-G-C c.601G>C p.Glu201Gln Missense 3/10 - 1
2-48023179-C-G c.604C>G p.Pro202Ala Missense 3/10 - 1
2-48023182-G-A c.607G>A p.Glu203Lys Missense 3/10 - 1
2-48023186-A-C c.611A>C p.Glu204Ala Missense 3/10 - 1
2-48023188-G-A c.613G>A p.Glu205Lys Missense 3/10 - 1
2-48023188-GA-TC c.613_614inv p.Glu205Ser Missense 3/10 - 1
2-48023195-GA-G c.620del p.Glu207Glyfs*4 Frameshift 3/10 - 1
2-48023197-A-G c.622A>G p.Met208Val Missense 3/10 - 1
2-48024402-T-C c.627+1200T>C - IntronicSNV - 3/9 2
2-48024876-C-T c.628-874C>T - IntronicSNV - 3/9 4
2-48025694-C-T c.628-56C>T - IntronicSNV - 3/9 3
2-48025743-C-A c.628-7C>A - IntronicSNV - 3/9 1
2-48025750-GTA-TTT c.628_630delinsTTT p.Val210Phe Missense 4/10 - 1
2-48025764-C-G c.642C>G p.Tyr214* Nonsense 4/10 - 1
2-48025764-C-A c.642C>A p.Tyr214* Nonsense 4/10 - 3
2-48025764-C-T c.642C>T p.Tyr214Tyr Synonymous 4/10 - 6
2-48025764-ACGTA-A c.642_645del p.Tyr214* Frameshift 4/10 - 1
2-48025770-A-G c.648A>G p.Thr216Thr Synonymous 4/10 - 1
2-48025770-A-C c.648A>C p.Thr216Thr Synonymous 4/10 - 1
2-48025770-A-T c.648A>T p.Thr216Thr Synonymous 4/10 - 1
2-48025770-A-AT c.648_649insT p.Asp217* Nonsense 4/10 - 1
2-48025771-G-T c.649G>T p.Asp217Tyr Missense 4/10 - 1
2-48025773-T-TT c.651dup p.Lys218* Nonsense 4/10 - 7
2-48025783-G-C c.661G>C p.Glu221Gln Missense 4/10 - 1
2-48025785-A-C c.663A>C p.Glu221Asp Missense 4/10 - 7
2-48025797-T-TT c.675dup p.Glu226* Nonsense 4/10 - 1
2-48025802-G-T c.680G>T p.Ser227Ile Missense 4/10 - 1
2-48025808-A-G c.686A>G p.Glu229Gly Missense 4/10 - 1
2-48025810-G-T c.688G>T p.Glu230* Nonsense 4/10 - 1
2-48025810-GGA-G c.688_689del p.Glu230Serfs*4 Frameshift 4/10 - 1
2-48025813-AG-A c.691del p.Val231Tyrfs*15 Frameshift 4/10 - 1
2-48025816-CA-GC c.694_695delinsGC p.Gln232Ala Missense 4/10 - 1
2-48025816-C-T c.694C>T p.Gln232* Nonsense 4/10 - 2
2-48025817-A-AA c.695dup p.Pro233Alafs*2 Frameshift 4/10 - 1
2-48025828-C-T c.706C>T p.Gln236* Nonsense 4/10 - 1
2-48025832-GG-G c.710del p.Gly237Aspfs*9 Frameshift 4/10 - 1
2-48025840-C-T c.718C>T p.Arg240* Nonsense 4/10 - 1
2-48025841-G-A c.719G>A p.Arg240Gln Missense 4/10 - 1
2-48025843-AG-TT c.721_722delinsTT p.Ser241Phe Missense 4/10 - 1
2-48025845-T-TT c.723dup p.Ser242* Nonsense 4/10 - 1
2-48025855-A-C c.733A>C p.Ile245Leu Missense 4/10 - 1
2-48025855-A-T c.733A>T p.Ile245Leu Missense 4/10 - 1
2-48025860-AAAAA-A c.738_741del p.Lys246Asnfs*32 Frameshift 4/10 - 1
2-48025862-A-T c.740A>T p.Lys247Ile Missense 4/10 - 1
2-48025864-C-T c.742C>T p.Arg248* Nonsense 4/10 - 5
2-48025865-G-A c.743G>A p.Arg248Gln Missense 4/10 - 1
2-48025869-G-T c.747G>T p.Arg249Ser Missense 4/10 - 1
2-48025871-T-C c.749T>C p.Val250Ala Missense 4/10 - 1
2-48025876-T-G c.754T>G p.Ser252Ala Missense 4/10 - 1
2-48025877-C-G c.755C>G p.Ser252* Nonsense 4/10 - 1
2-48025882-T-C c.760T>C p.Ser254Pro Missense 4/10 - 1
2-48025882-T-G c.760T>G p.Ser254Ala Missense 4/10 - 1
2-48025885-G-A c.763G>A p.Glu255Lys Missense 4/10 - 1
2-48025888-AG-GC c.766_767delinsGC p.Ser256Ala Missense 4/10 - 1
2-48025902-C-G c.780C>G p.Gly260Gly Synonymous 4/10 - 1
2-48025903-T-G c.781T>G p.Ser261Ala Missense 4/10 - 1
2-48025916-T-G c.794T>G p.Phe265Cys Missense 4/10 - 1
2-48025924-G-C c.802G>C p.Asp268His Missense 4/10 - 1
2-48025936-G-T c.814G>T p.Glu272* Nonsense 4/10 - 2
2-48025940-G-A c.818G>A p.Gly273Glu Missense 4/10 - 1
2-48025943-G-A c.821G>A p.Ser274Asn Missense 4/10 - 1
2-48025958-AG-A c.836del p.Ser279Thrfs*12 Frameshift 4/10 - 1
2-48025963-GG-AC c.841_842delinsAC p.Gly281Thr Missense 4/10 - 1
2-48025965-A-AAC c.843_844insAC p.Val282Thrfs*10 Frameshift 4/10 - 1
2-48025967-T-TT c.845dup p.Asp284Glyfs*2 Frameshift 4/10 - 1
2-48025976-G-T c.854G>T p.Ser285Ile Missense 4/10 - 4
2-48025984-G-A c.862G>A p.Glu288Lys Missense 4/10 - 1
2-48025984-G-T c.862G>T p.Glu288* Nonsense 4/10 - 1
2-48025988-G-C c.866G>C p.Gly289Ala Missense 4/10 - 1
2-48025988-G-A c.866G>A p.Gly289Asp Missense 4/10 - 1
2-48025989-C-A c.867C>A p.Gly289Gly Synonymous 4/10 - 1
2-48025990-CC-C c.868del p.Leu290* Frameshift 4/10 - 1
2-48026006-A-T c.884A>T p.Lys295Ile Missense 4/10 - 1
2-48026006-A-G c.884A>G p.Lys295Arg Missense 4/10 - 1
2-48026014-C-T c.892C>T p.Arg298* Nonsense 4/10 - 2
2-48026015-G-A c.893G>A p.Arg298Gln Missense 4/10 - 1
2-48026022-G-GG c.900dup p.Lys301Glufs*11 Frameshift 4/10 - 2
2-48026035-A-T c.913A>T p.Thr305Ser Missense 4/10 - 1
2-48026037-T-A c.915T>A p.Thr305Thr Synonymous 4/10 - 1
2-48026038-G-T c.916G>T p.Gly306* Nonsense 4/10 - 1
2-48026048-C-A c.926C>A p.Ser309Tyr Missense 4/10 - 1
2-48026048-C-G c.926C>G p.Ser309Cys Missense 4/10 - 1
2-48026052-T-TT c.930dup p.Lys311* Nonsense 4/10 - 1
2-48026053-TAAAAG-T c.931_935del p.Lys311Glufs*4 Frameshift 4/10 - 1
2-48026058-GGAAAAG-G c.936_941del p.Arg312_Lys313del InFrameDeletion 4/10 - 1
2-48026066-C-T c.944C>T p.Ser315Phe Missense 4/10 - 1
2-48026066-C-G c.944C>G p.Ser315Cys Missense 4/10 - 1
2-48026068-AG-GA c.946_947delinsGA p.Arg316Glu Missense 4/10 - 1
2-48026090-C-G c.968C>G p.Thr323Ser Missense 4/10 - 1
2-48026094-A-C c.972A>C p.Lys324Asn Missense 4/10 - 1
2-48026094-A-T c.972A>T p.Lys324Asn Missense 4/10 - 1
2-48026112-A-T c.990A>T p.Ser330Ser Synonymous 4/10 - 1
2-48026120-C-T c.998C>T p.Thr333Ile Missense 4/10 - 1
2-48026134-A-G c.1012A>G p.Arg338Gly Missense 4/10 - 1
2-48026141-T-C c.1019T>C p.Phe340Ser Missense 4/10 - 1
2-48026150-C-T c.1028C>T p.Pro343Leu Missense 4/10 - 1
2-48026152-C-T c.1030C>T p.Gln344* Nonsense 4/10 - 2
2-48026155-AA-GC c.1033_1034delinsGC p.Asn345Ala Missense 4/10 - 1
2-48026155-A-T c.1033A>T p.Asn345Tyr Missense 4/10 - 1
2-48026185-G-A c.1063G>A p.Gly355Ser Missense 4/10 - 5
2-48026190-T-C c.1068T>C p.Gly356Gly Synonymous 4/10 - 1
2-48026190-T-G c.1068T>G p.Gly356Gly Synonymous 4/10 - 1
2-48026191-G-A c.1069G>A p.Asp357Asn Missense 4/10 - 1
2-48026192-A-C c.1070A>C p.Asp357Ala Missense 4/10 - 1
2-48026204-G-A c.1082G>A p.Arg361His Missense 4/10 - 4
2-48026207-CC-C c.1085del p.Pro362Leufs*9 Frameshift 4/10 - 1
2-48026217-G-A c.1095G>A p.Trp365* Nonsense 4/10 - 1
2-48026216-G-A c.1094G>A p.Trp365* Nonsense 4/10 - 1
2-48026231-T-C c.1109T>C p.Leu370Ser Missense 4/10 - 4
2-48026248-G-T c.1126G>T p.Glu376* Nonsense 4/10 - 1
2-48026255-G-A c.1133G>A p.Arg378Lys Missense 4/10 - 1
2-48026255-AGA-A c.1133_1134del p.Arg378Lysfs*3 Frameshift 4/10 - 1
2-48026257-A-T c.1135A>T p.Arg379* Nonsense 4/10 - 1
2-48026257-AAGAGA-A c.1135_1139del p.Arg379* Frameshift 4/10 - 3
2-48026257-AGA-TGT c.1135_1137delinsTGT p.Arg379Cys Missense 4/10 - 1
2-48026261-GATGAG-G c.1139_1143del p.Asp380Alafs*6 Frameshift 4/10 - 1
2-48026263-G-A c.1141G>A p.Glu381Lys Missense 4/10 - 1
2-48026265-G-GA c.1143_1144insA p.His382Thrfs*6 Frameshift 4/10 - 1
2-48026275-GAGG-G c.1153_1155del p.Arg385del InFrameDeletion 4/10 - 1
2-48026276-G-A c.1154G>A p.Arg385Lys Missense 4/10 - 1
2-48026279-C-G c.1157C>G p.Pro386Arg Missense 4/10 - 1
2-48026285-A-T c.1163A>T p.His388Leu Missense 4/10 - 1
2-48026286-C-T c.1164C>T p.His388His Synonymous 4/10 - 3
2-48026287-C-T c.1165C>T p.Pro389Ser Missense 4/10 - 1
2-48026295-TT-T c.1173del p.Phe391Leufs*20 Frameshift 4/10 - 1
2-48026308-C-G c.1186C>G p.Leu396Val Missense 4/10 - 8
2-48026311-CTAT-C c.1189_1191del p.Tyr397del InFrameDeletion 4/10 - 1
2-48026312-TAT-T c.1190_1191del p.Tyr397Cysfs*3 Frameshift 4/10 - 1
2-48026314-TG-T c.1192del p.Val398Cysfs*13 Frameshift 4/10 - 1
2-48026315-T-A c.1193T>A p.Val398Glu Missense 4/10 - 1
2-48026318-C-T c.1196C>T p.Pro399Leu Missense 4/10 - 1
2-48026327-T-TT c.1205dup p.Leu403Profs*15 Frameshift 4/10 - 1
2-48026336-C-G c.1214C>G p.Ser405Cys Missense 4/10 - 1
2-48026338-TG-AC c.1216_1217delinsAC p.Cys406Thr Missense 4/10 - 1
2-48026344-C-CT c.1222_1223insT p.Pro408Leufs*10 Frameshift 4/10 - 1
2-48026348-G-A c.1226G>A p.Gly409Glu Missense 4/10 - 1
2-48026377-C-T c.1255C>T p.Gln419* Nonsense 4/10 - 1
2-48026387-A-C c.1265A>C p.Asp422Ala Missense 4/10 - 1
2-48026395-A-G c.1273A>G p.Ile425Val Missense 4/10 - 1
2-48026403-C-T c.1281C>T p.Tyr427Tyr Synonymous 4/10 - 1
2-48026404-A-G c.1282A>G p.Lys428Glu Missense 4/10 - 1
2-48026417-T-C c.1295T>C p.Phe432Ser Missense 4/10 - 1
2-48026417-T-G c.1295T>G p.Phe432Cys Missense 4/10 - 1
2-48026426-T-C c.1304T>C p.Leu435Pro Missense 4/10 - 1
2-48026431-C-T c.1309C>T p.His437Tyr Missense 4/10 - 1
2-48026438-A-G c.1316A>G p.Asp439Gly Missense 4/10 - 3
2-48026459-A-G c.1337A>G p.Glu446Gly Missense 4/10 - 1
2-48026460-A-T c.1338A>T p.Glu446Asp Missense 4/10 - 1
2-48026460-A-C c.1338A>C p.Glu446Asp Missense 4/10 - 1
2-48026468-T-C c.1346T>C p.Leu449Pro Missense 4/10 - 1
2-48026490-G-A c.1368G>A p.Trp456* Nonsense 4/10 - 1
2-48026489-G-A c.1367G>A p.Trp456* Nonsense 4/10 - 1
2-48026498-C-T c.1376C>T p.Ser459Phe Missense 4/10 - 1
2-48026517-A-T c.1395A>T p.Ala465Ala Synonymous 4/10 - 1
2-48026525-G-A c.1403G>A p.Arg468His Missense 4/10 - 4
2-48026527-TT-T c.1405del p.Tyr469Ilefs*12 Frameshift 4/10 - 2
2-48026531-C-G c.1409C>G p.Ser470* Nonsense 4/10 - 1
2-48026544-GC-AT c.1422_1423delinsAT p.Gln475* Missense 4/10 - 1
2-48026552-G-A c.1430G>A p.Gly477Asp Missense 4/10 - 1
2-48026566-C-G c.1444C>G p.Arg482Gly Missense 4/10 - 1
2-48026566-C-A c.1444C>A p.Arg482Arg Synonymous 4/10 - 1
2-48026566-C-T c.1444C>T p.Arg482* Nonsense 4/10 - 4
2-48026567-G-A c.1445G>A p.Arg482Gln Missense 4/10 - 2
2-48026569-G-T c.1447G>T p.Val483Leu Missense 4/10 - 1
2-48026572-G-A c.1450G>A p.Glu484Lys Missense 4/10 - 2
2-48026575-C-T c.1453C>T p.Gln485* Nonsense 4/10 - 2
2-48026581-G-A c.1459G>A p.Glu487Lys Missense 4/10 - 1
2-48026583-G-C c.1461G>C p.Glu487Asp Missense 4/10 - 1
2-48026583-G-T c.1461G>T p.Glu487Asp Missense 4/10 - 1
2-48026603-C-T c.1481C>T p.Ala494Val Missense 4/10 - 1
2-48026605-C-T c.1483C>T p.Arg495* Nonsense 4/10 - 4
2-48026611-A-T c.1489A>T p.Arg497* Nonsense 4/10 - 1
2-48026612-G-GC c.1490_1491insC p.Arg497Serfs*10 Frameshift 4/10 - 1
2-48026612-G-A c.1490G>A p.Arg497Lys Missense 4/10 - 1
2-48026616-G-GG c.1494dup p.Met499Aspfs*8 Frameshift 4/10 - 1
2-48026630-C-G c.1508C>G p.Ser503Cys Missense 4/10 - 3
2-48026630-C-T c.1508C>T p.Ser503Phe Missense 4/10 - 1
2-48026638-G-A c.1516G>A p.Asp506Asn Missense 4/10 - 1
2-48026641-A-AA c.1519dup p.Arg507Lysfs*9 Frameshift 4/10 - 1
2-48026648-T-C c.1526T>C p.Val509Ala Missense 4/10 - 7
2-48026650-A-G c.1528A>G p.Arg510Gly Missense 4/10 - 1
2-48026653-A-G c.1531A>G p.Arg511Gly Missense 4/10 - 1
2-48026653-AGG-CAT c.1531_1533delinsCAT p.Arg511His Missense 4/10 - 2
2-48026661-C-G c.1539C>G p.Ile513Met Missense 4/10 - 1
2-48026687-A-G c.1565A>G p.Gln522Arg Missense 4/10 - 1
2-48026713-C-A c.1591C>A p.Pro531Thr Missense 4/10 - 1
2-48026713-C-T c.1591C>T p.Pro531Ser Missense 4/10 - 1
2-48026716-T-G c.1594T>G p.Ser532Ala Missense 4/10 - 1
2-48026721-G-GG c.1599dup p.Asn534Glufs*4 Frameshift 4/10 - 1
2-48026721-G-C c.1599G>C p.Glu533Asp Missense 4/10 - 1
2-48026731-A-G c.1609A>G p.Lys537Glu Missense 4/10 - 1
2-48026732-AAGTA-A c.1610_1613del p.Lys537Ilefs*33 Frameshift 4/10 - 1
2-48026734-GTATCTTCTTAGCCTCAAAGAAAAAGAGGAAGATTCTTCTGGCCATACTCGTGCATATGG-G c.1613_1671del p.Tyr538Cysfs*5 SpliceDonorDeletion 4/10 - 1
2-48026735-A-C c.1613A>C p.Tyr538Ser Missense 4/10 - 1
2-48026736-T-G c.1614T>G p.Tyr538* Nonsense 4/10 - 1
2-48026736-T-A c.1614T>A p.Tyr538* Nonsense 4/10 - 1
2-48026740-TCTT-T c.1618_1620del p.Leu540del InFrameDeletion 4/10 - 1
2-48026743-A-G c.1621A>G p.Ser541Gly Missense 4/10 - 1
2-48026745-C-A c.1623C>A p.Ser541Arg Missense 4/10 - 1
2-48026745-C-G c.1623C>G p.Ser541Arg Missense 4/10 - 1
2-48026743-A-C c.1621A>C p.Ser541Arg Missense 4/10 - 1
2-48026750-A-G c.1628A>G p.Lys543Arg Missense 4/10 - 1
2-48026758-G-T c.1636G>T p.Glu546* Nonsense 4/10 - 1
2-48026760-G-A c.1638G>A p.Glu546Glu Synonymous 4/10 - 1
2-48026763-A-C c.1641A>C p.Glu547Asp Missense 4/10 - 1
2-48026789-A-T c.1667A>T p.Tyr556Phe Missense 4/10 - 1
2-48026799-C-T c.1677C>T p.Cys559Cys Synonymous 4/10 - 1
2-48026804-T-C c.1682T>C p.Val561Ala Missense 4/10 - 1
2-48026810-C-A c.1688C>A p.Thr563Asn Missense 4/10 - 1
2-48026818-G-A c.1696G>A p.Gly566Arg Missense 4/10 - 6
2-48026818-G-C c.1696G>C p.Gly566Arg Missense 4/10 - 6
2-48026829-TC-T c.1707del p.Phe569Leufs*2 Frameshift 4/10 - 2
2-48026836-C-A c.1714C>A p.Gln572Lys Missense 4/10 - 1
2-48026836-CA-GC c.1714_1715delinsGC p.Gln572Ala Missense 4/10 - 1
2-48026839-T-C c.1717T>C p.Phe573Leu Missense 4/10 - 1
2-48026841-T-G c.1719T>G p.Phe573Leu Missense 4/10 - 1
2-48026841-T-A c.1719T>A p.Phe573Leu Missense 4/10 - 1
2-48026845-G-T c.1723G>T p.Asp575Tyr Missense 4/10 - 1
2-48026851-C-T c.1729C>T p.Arg577Cys Missense 4/10 - 3
2-48026852-G-A c.1730G>A p.Arg577His Missense 4/10 - 4
2-48026861-C-T c.1739C>T p.Ser580Leu Missense 4/10 - 2
2-48026876-T-C c.1754T>C p.Leu585Pro Missense 4/10 - 5
2-48026881-G-C c.1759G>C p.Ala587Pro Missense 4/10 - 1
2-48026890-C-T c.1768C>T p.Pro590Ser Missense 4/10 - 1
2-48026906-TT-T c.1784del p.Leu595Tyrfs*15 Frameshift 4/10 - 3
2-48026908-ATTT-A c.1786_1788del p.Phe596del InFrameDeletion 4/10 - 1
2-48026915-A-G c.1793A>G p.Lys598Arg Missense 4/10 - 1
2-48026926-CTC-C c.1804_1805del p.Ser602Lysfs*4 Frameshift 4/10 - 1
2-48026929-AA-GC c.1807_1808delinsGC p.Lys603Ala Missense 4/10 - 1
2-48026950-A-G c.1828A>G p.Lys610Glu Missense 4/10 - 1
2-48026974-CA-GC c.1852_1853delinsGC p.Gln618Ala Missense 4/10 - 1
2-48026979-A-C c.1857A>C p.Glu619Asp Missense 4/10 - 1
2-48026983-C-T c.1861C>T p.Leu621Leu Synonymous 4/10 - 1
2-48026989-C-G c.1867C>G p.Pro623Ala Missense 4/10 - 3
2-48026989-C-A c.1867C>A p.Pro623Thr Missense 4/10 - 1
2-48026990-C-T c.1868C>T p.Pro623Leu Missense 4/10 - 2
2-48026992-G-A c.1870G>A p.Gly624Ser Missense 4/10 - 1
2-48026998-CA-GC c.1876_1877delinsGC p.Gln626Ala Missense 4/10 - 1
2-48027004-TT-T c.1882del p.Trp628Glyfs*7 Frameshift 4/10 - 1
2-48027005-G-A c.1883G>A p.Trp628* Nonsense 4/10 - 1
2-48027022-TTT-T c.1900_1901del p.Leu634Glufs*5 Frameshift 4/10 - 2
2-48027034-C-CAA c.1912_1913insAA p.Leu638Glnfs*11 Frameshift 4/10 - 1
2-48027036-TT-T c.1914del p.Glu639Argfs*9 Frameshift 4/10 - 1
2-48027043-AGAA-A c.1921_1923del p.Glu641del InFrameDeletion 4/10 - 1
2-48027047-A-G c.1925A>G p.Tyr642Cys Missense 4/10 - 1
2-48027048-T-G c.1926T>G p.Tyr642* Nonsense 4/10 - 1
2-48027048-T-A c.1926T>A p.Tyr642* Nonsense 4/10 - 1
2-48027054-G-A c.1932G>A p.Arg644Arg Synonymous 4/10 - 1
2-48027054-G-C c.1932G>C p.Arg644Ser Missense 4/10 - 2
2-48027059-A-G c.1937A>G p.Lys646Arg Missense 4/10 - 1
2-48027065-AG-A c.1943del p.Ser648Metfs*6 Frameshift 4/10 - 1
2-48027071-G-A c.1949G>A p.Gly650Asp Missense 4/10 - 1
2-48027089-C-T c.1967C>T p.Pro656Leu Missense 4/10 - 1
2-48027090-C-T c.1968C>T p.Pro656Pro Synonymous 4/10 - 1
2-48027090-C-G c.1968C>G p.Pro656Pro Synonymous 4/10 - 2
2-48027090-C-A c.1968C>A p.Pro656Pro Synonymous 4/10 - 1
2-48027091-CC-C c.1969del p.Gln657Argfs*6 Frameshift 4/10 - 1
2-48027118-T-C c.1996T>C p.Ser666Pro Missense 4/10 - 2
2-48027128-T-C c.2006T>C p.Ile669Thr Missense 4/10 - 1
2-48027130-G-A c.2008G>A p.Gly670Arg Missense 4/10 - 2
2-48027130-G-C c.2008G>C p.Gly670Arg Missense 4/10 - 2
2-48027131-G-A c.2009G>A p.Gly670Glu Missense 4/10 - 1
2-48027143-G-C c.2021G>C p.Gly674Ala Missense 4/10 - 3
2-48027152-G-A c.2030G>A p.Ser677Asn Missense 4/10 - 1
2-48027152-G-C c.2030G>C p.Ser677Thr Missense 4/10 - 1
2-48027162-C-T c.2040C>T p.Ala680Ala Synonymous 4/10 - 1
2-48027171-T-TAGT c.2049_2050insAGT p.Ala683_Leu684insSer InFrameInsertion 4/10 - 1
2-48027179-G-A c.2057G>A p.Gly686Asp Missense 4/10 - 5
2-48027182-G-A c.2060G>A p.Cys687Tyr Missense 4/10 - 1
2-48027183-T-A c.2061T>A p.Cys687* Nonsense 4/10 - 1
2-48027183-T-G c.2061T>G p.Cys687Trp Missense 4/10 - 1
2-48027201-AA-A c.2079del p.Lys693Asnfs*43 Frameshift 4/10 - 1
2-48027201-A-AA c.2079dup p.Cys694Metfs*4 Frameshift 4/10 - 1
2-48027204-C-A c.2082C>A p.Cys694* Nonsense 4/10 - 1
2-48027214-C-G c.2092C>G p.Gln698Glu Missense 4/10 - 2
2-48027217-G-A c.2095G>A p.Glu699Lys Missense 4/10 - 1
2-48027218-A-C c.2096A>C p.Glu699Ala Missense 4/10 - 1
2-48027223-T-G c.2101T>G p.Leu701Val Missense 4/10 - 1
2-48027223-TTA-CAT c.2101_2103delinsCAT p.Leu701His Missense 4/10 - 1
2-48027239-T-C c.2117T>C p.Phe706Ser Missense 4/10 - 3
2-48027241-G-A c.2119G>A p.Glu707Lys Missense 4/10 - 7
2-48027242-A-C c.2120A>C p.Glu707Ala Missense 4/10 - 1
2-48027259-GG-G c.2137del p.Asp713Ilefs*23 Frameshift 4/10 - 1
2-48027263-C-G c.2141C>G p.Ser714Cys Missense 4/10 - 1
2-48027269-ACA-A c.2147_2148del p.Thr716Serfs*39 Frameshift 4/10 - 1
2-48027272-GTCAG-G c.2150_2153del p.Val717Alafs*18 Frameshift 4/10 - 4
2-48027276-C-T c.2154C>T p.Ser718Ser Synonymous 4/10 - 1
2-48027278-C-T c.2156C>T p.Thr719Ile Missense 4/10 - 1
2-48027297-C-G c.2175C>G p.Ile725Met Missense 4/10 - 1
2-48027305-A-C c.2183A>C p.Lys728Thr Missense 4/10 - 3
2-48027309-C-T c.2187C>T p.Ala729Ala Synonymous 4/10 - 1
2-48027313-C-T c.2191C>T p.Gln731* Nonsense 4/10 - 1
2-48027316-C-T c.2194C>T p.Arg732* Nonsense 4/10 - 2
2-48027317-G-A c.2195G>A p.Arg732Gln Missense 4/10 - 2
2-48027325-C-A c.2203C>A p.Leu735Ile Missense 4/10 - 1
2-48027328-G-C c.2206G>C p.Asp736His Missense 4/10 - 2
2-48027338-C-A c.2216C>A p.Thr739Lys Missense 4/10 - 1
2-48027341-T-A c.2219T>A p.Leu740* Nonsense 4/10 - 1
2-48027347-A-G c.2225A>G p.Asn742Ser Missense 4/10 - 1
2-48027352-G-GG c.2230dup p.Glu744Glyfs*12 Frameshift 4/10 - 1
2-48027360-T-TT c.2238dup p.Leu747Serfs*9 Frameshift 4/10 - 2
2-48027367-GGA-AGC c.2245_2247delinsAGC p.Gly749Ser Missense 4/10 - 1
2-48027368-G-C c.2246G>C p.Gly749Ala Missense 4/10 - 1
2-48027375-T-C c.2253T>C p.Asn751Asn Synonymous 4/10 - 1
2-48027392-C-T c.2270C>T p.Thr757Ile Missense 4/10 - 1
2-48027394-C-T c.2272C>T p.Leu758Leu Synonymous 4/10 - 2
2-48027397-CT-GC c.2275_2276delinsGC p.Leu759Ala Missense 4/10 - 1
2-48027399-TAGAGAGGGTTGATACTT-T c.2277_2293del p.Glu760Profs*6 Frameshift 4/10 - 1
2-48027413-C-A c.2291C>A p.Thr764Asn Missense 4/10 - 2
2-48027413-C-T c.2291C>T p.Thr764Ile Missense 4/10 - 1
2-48027416-G-A c.2294G>A p.Cys765Tyr Missense 4/10 - 1
2-48027419-CA-C c.2297del p.His766Leufs*9 Frameshift 4/10 - 1
2-48027422-C-G c.2300C>G p.Thr767Ser Missense 4/10 - 2
2-48027422-C-T c.2300C>T p.Thr767Ile Missense 4/10 - 2
2-48027424-C-G c.2302C>G p.Pro768Ala Missense 4/10 - 1
2-48027424-C-T c.2302C>T p.Pro768Ser Missense 4/10 - 1
2-48027424-TCCT-T c.2302_2304del p.Pro768del InFrameDeletion 4/10 - 3
2-48027430-G-C c.2308G>C p.Gly770Arg Missense 4/10 - 2
2-48027436-C-T c.2314C>T p.Arg772Trp Missense 4/10 - 4
2-48027437-G-A c.2315G>A p.Arg772Gln Missense 4/10 - 1
2-48027441-C-T c.2319C>T p.Leu773Leu Synonymous 4/10 - 2
2-48027441-C-A c.2319C>A p.Leu773Leu Synonymous 4/10 - 2
2-48027463-C-T c.2341C>T p.Pro781Ser Missense 4/10 - 2
2-48027470-TGT-T c.2348_2349del p.Cys783* Frameshift 4/10 - 1
2-48027484-A-G c.2362A>G p.Ile788Val Missense 4/10 - 1
2-48027501-ATG-A c.2379_2380del p.Ala794Hisfs*9 Frameshift 4/10 - 2
2-48027506-T-C c.2384T>C p.Ile795Thr Missense 4/10 - 1
2-48027520-G-C c.2398G>C p.Val800Leu Missense 4/10 - 1
2-48027530-A-G c.2408A>G p.Asp803Gly Missense 4/10 - 3
2-48027541-G-A c.2419G>A p.Glu807Lys Missense 4/10 - 2
2-48027547-TG-T c.2425del p.Val809* Frameshift 4/10 - 1
2-48027547-GT-TA c.2425_2426delinsTA p.Val809* Nonsense 4/10 - 2
2-48027548-GTAG-G c.2426_2428del p.Val809del InFrameDeletion 4/10 - 3
2-48027610-T-TT c.2488dup p.Ser830Phefs*17 Frameshift 4/10 - 1
2-48027625-C-T c.2503C>T p.Gln835* Nonsense 4/10 - 1
2-48027625-C-G c.2503C>G p.Gln835Glu Missense 4/10 - 2
2-48027644-G-A c.2522G>A p.Arg841Lys Missense 4/10 - 1
2-48027655-T-C c.2533T>C p.Tyr845His Missense 4/10 - 1
2-48027661-G-T c.2539G>T p.Glu847* Nonsense 4/10 - 2
2-48027671-A-G c.2549A>G p.Tyr850Cys Missense 4/10 - 1
2-48027672-C-A c.2550C>A p.Tyr850* Nonsense 4/10 - 1
2-48027672-C-G c.2550C>G p.Tyr850* Nonsense 4/10 - 1
2-48027676-CAA-C c.2554_2555del p.Lys852Glufs*5 Frameshift 4/10 - 1
2-48027683-A-T c.2561A>T p.Lys854Met Missense 4/10 - 3
2-48027683-AAGA-A c.2561_2563del p.Lys854del InFrameDeletion 4/10 - 2
2-48027710-A-G c.2588A>G p.Glu863Gly Missense 4/10 - 1
2-48027713-G-A c.2591G>A p.Gly864Glu Missense 4/10 - 1
2-48027716-T-G c.2594T>G p.Phe865Cys Missense 4/10 - 1
2-48027720-AAGTAA-A c.2598_2602del p.Lys866Asnfs*3 Frameshift 4/10 - 1
2-48027722-T-G c.2600T>G p.Val867Gly Missense 4/10 - 1
2-48027726-TG-T c.2604del p.Met868Ilefs*5 Frameshift 4/10 - 1
2-48027728-G-A c.2606G>A p.Cys869Tyr Missense 4/10 - 1
2-48027733-AA-A c.2611del p.Ile871Leufs*2 Frameshift 4/10 - 1
2-48027747-G-A c.2625G>A p.Met875Ile Missense 4/10 - 1
2-48027747-G-T c.2625G>T p.Met875Ile Missense 4/10 - 1
2-48027747-G-C c.2625G>C p.Met875Ile Missense 4/10 - 1
2-48027751-G-T c.2629G>T p.Glu877* Nonsense 4/10 - 2
2-48027755-T-C c.2633T>C p.Val878Ala Missense 4/10 - 20
2-48027755-T-G c.2633T>G p.Val878Gly Missense 4/10 - 3
2-48027763-GGT-AAG c.2641_2643delinsAAG p.Gly881Lys Missense 4/10 - 1
2-48027775-A-T c.2653A>T p.Lys885* Nonsense 4/10 - 1
2-48027777-A-T c.2655A>T p.Lys885Asn Missense 4/10 - 1
2-48027777-A-C c.2655A>C p.Lys885Asn Missense 4/10 - 1
2-48027778-A-G c.2656A>G p.Ile886Val Missense 4/10 - 1
2-48027781-CC-C c.2659del p.Lys888Serfs*18 Frameshift 4/10 - 1
2-48027790-G-T c.2668G>T p.Val890Phe Missense 4/10 - 1
2-48027794-AT-A c.2672del p.Ile891Thrfs*15 Frameshift 4/10 - 1
2-48027795-C-G c.2673C>G p.Ile891Met Missense 4/10 - 1
2-48027799-TCT-T c.2677_2678del p.Leu893Alafs*6 Frameshift 4/10 - 1
2-48027812-AA-A c.2690del p.Asn897Ilefs*9 Frameshift 4/10 - 2
2-48027812-A-AA c.2690dup p.Asn897Lysfs*3 Frameshift 4/10 - 1
2-48027822-GTC-G c.2700_2701del p.Arg901Phefs*3 Frameshift 4/10 - 1
2-48027841-TGT-T c.2719_2720del p.Val907Argfs*10 Frameshift 4/10 - 1
2-48027844-G-T c.2722G>T p.Glu908* Nonsense 4/10 - 2
2-48027853-C-T c.2731C>T p.Arg911* Nonsense 4/10 - 13
2-48027857-G-A c.2735G>A p.Trp912* Nonsense 4/10 - 1
2-48027874-C-T c.2752C>T p.His918Tyr Missense 4/10 - 1
2-48027886-C-T c.2764C>T p.Arg922* Nonsense 4/10 - 1
2-48027886-C-A c.2764C>A p.Arg922Arg Synonymous 4/10 - 1
2-48027887-G-A c.2765G>A p.Arg922Gln Missense 4/10 - 4
2-48027917-G-A c.2795G>A p.Gly932Asp Missense 4/10 - 1
2-48027922-G-C c.2800G>C p.Asp934His Missense 4/10 - 1
2-48027927-CTG-C c.2805_2806del p.Asp936Leufs*2 Frameshift 4/10 - 1
2-48027927-T-TT c.2805dup p.Asp936* Nonsense 4/10 - 1
2-48027937-C-T c.2815C>T p.Gln939* Nonsense 4/10 - 4
2-48027958-G-T c.2836G>T p.Glu946* Nonsense 4/10 - 1
2-48027995-CAG-C c.2873_2874del p.Gln958Profs*7 Frameshift 4/10 - 1
2-48027998-G-A c.2876G>A p.Arg959His Missense 4/10 - 2
2-48028013-G-A c.2891G>A p.Cys964Tyr Missense 4/10 - 1
2-48028028-A-G c.2906A>G p.Tyr969Cys Missense 4/10 - 2
2-48028034-G-A c.2912G>A p.Gly971Glu Missense 4/10 - 2
2-48028048-C-T c.2926C>T p.Arg976Cys Missense 4/10 - 1
2-48028049-G-A c.2927G>A p.Arg976His Missense 4/10 - 2
2-48028053-C-G c.2931C>G p.Tyr977* Nonsense 4/10 - 1
2-48028054-C-T c.2932C>T p.Gln978* Nonsense 4/10 - 2
2-48028063-A-G c.2941A>G p.Ile981Val Missense 4/10 - 1
2-48028069-G-C c.2947G>C p.Glu983Gln Missense 4/10 - 2
2-48028098-AA-A c.2976del p.Glu993Asnfs*4 Frameshift 4/10 - 1
2-48028102-T-A c.2980T>A p.Tyr994Asn Missense 4/10 - 3
2-48028105-G-T c.2983G>T p.Glu995* Nonsense 4/10 - 2
2-48028114-T-A c.2992T>A p.Ser998Thr Missense 4/10 - 1
2-48028115-C-T c.2993C>T p.Ser998Phe Missense 4/10 - 1
2-48028135-C-T c.3013C>T p.Arg1005* Nonsense 4/10 - 7
2-48028138-T-G c.3016T>G p.Tyr1006Asp Missense 4/10 - 1
2-48028145-C-T c.3023C>T p.Thr1008Ile Missense 4/10 - 2
2-48028160-A-C c.3038A>C p.Lys1013Thr Missense 4/10 - 1
2-48028161-G-C c.3039G>C p.Lys1013Asn Missense 4/10 - 1
2-48028161-G-T c.3039G>T p.Lys1013Asn Missense 4/10 - 1
2-48028162-GAAG-G c.3040_3042del p.Lys1014del InFrameDeletion 4/10 - 1
2-48028184-C-A c.3062C>A p.Ala1021Asp Missense 4/10 - 1
2-48028192-CGG-TGT c.3070_3072delinsTGT p.Arg1024Cys Missense 4/10 - 3
2-48028193-G-A c.3071G>A p.Arg1024Gln Missense 4/10 - 1
2-48028202-T-TT c.3080dup p.Ser1028Ilefs*12 Frameshift 4/10 - 1
2-48028205-C-G c.3083C>G p.Ser1028* Nonsense 4/10 - 1
2-48028205-C-A c.3083C>A p.Ser1028* Nonsense 4/10 - 1
2-48028223-G-C c.3101G>C p.Arg1034Pro Missense 4/10 - 1
2-48028225-C-T c.3103C>T p.Arg1035* Nonsense 4/10 - 9
2-48028236-T-G c.3114T>G p.Tyr1038* Nonsense 4/10 - 1
2-48028236-T-A c.3114T>A p.Tyr1038* Nonsense 4/10 - 1
2-48028241-TTT-T c.3119_3120del p.Phe1040* Frameshift 4/10 - 2
2-48028264-C-T c.3142C>T p.Gln1048* Nonsense 4/10 - 2
2-48028265-A-G c.3143A>G p.Gln1048Arg Missense 4/10 - 1
2-48028273-G-A c.3151G>A p.Val1051Ile Missense 4/10 - 2
2-48028277-GAG-G c.3155_3156del p.Glu1052Valfs*13 Frameshift 4/10 - 1
2-48028285-G-A c.3163G>A p.Ala1055Thr Missense 4/10 - 1
2-48028288-G-A c.3166G>A p.Val1056Met Missense 4/10 - 1
2-48028295-G-A c.3172+1G>A - IntronicSNV - 4/9 1
2-48028295-G-T c.3172+1G>T - IntronicSNV - 4/9 2
2-48028314-T-C c.3172+20T>C - IntronicSNV - 4/9 1
2-48028465-C-T c.3172+171C>T - IntronicSNV - 4/9 1
2-48030462-T-C c.3173-97T>C - IntronicSNV - 4/9 1
2-48030549-C-A c.3173-10C>A - IntronicSNV - 4/9 1
2-48030559-GATGTTTTACTGTGCCTGGCTAACTATAGTCGAGGGGGTGATGGTCCTATGTGTCGCCCA-G c.3173_3231del p.Asp1058Glyfs*15 Unclassified 5/10 - 1
2-48030564-TT-AG c.3178_3179delinsAG p.Leu1060Arg Missense 5/10 - 1
2-48030568-T-C c.3182T>C p.Leu1061Pro Missense 5/10 - 1
2-48030571-G-T c.3185G>T p.Cys1062Phe Missense 5/10 - 1
2-48030572-C-A c.3186C>A p.Cys1062* Nonsense 5/10 - 1
2-48030574-T-G c.3188T>G p.Leu1063Arg Missense 5/10 - 1
2-48030581-ACTATA-A c.3195_3199del p.Asn1065Lysfs*5 Frameshift 5/10 - 2
2-48030588-C-T c.3202C>T p.Arg1068* Nonsense 5/10 - 6
2-48030589-G-A c.3203G>A p.Arg1068Gln Missense 5/10 - 1
2-48030595-GG-G c.3209del p.Gly1070Valfs*9 Frameshift 5/10 - 1
2-48030603-C-T c.3217C>T p.Pro1073Ser Missense 5/10 - 3
2-48030612-C-T c.3226C>T p.Arg1076Cys Missense 5/10 - 6
2-48030613-G-A c.3227G>A p.Arg1076His Missense 5/10 - 2
2-48030624-TCT-T c.3238_3239del p.Leu1080Valfs*12 Frameshift 5/10 - 2
2-48030629-G-C c.3243G>C p.Leu1081Phe Missense 5/10 - 1
2-48030629-G-T c.3243G>T p.Leu1081Phe Missense 5/10 - 1
2-48030630-C-T c.3244C>T p.Pro1082Ser Missense 5/10 - 2
2-48030632-G-T c.3246G>T p.Pro1082Pro Synonymous 5/10 - 2
2-48030632-G-A c.3246G>A p.Pro1082Pro Synonymous 5/10 - 1
2-48030639-ACC-TAA c.3253_3255delinsTAA p.Thr1085* Nonsense 5/10 - 1
2-48030645-C-A c.3259C>A p.Pro1087Thr Missense 5/10 - 3
2-48030645-C-T c.3259C>T p.Pro1087Ser Missense 5/10 - 4
2-48030646-CCC-C c.3260_3261del p.Pro1087Leufs*5 Frameshift 5/10 - 1
2-48030646-C-A c.3260C>A p.Pro1087His Missense 5/10 - 1
2-48030646-C-G c.3260C>G p.Pro1087Arg Missense 5/10 - 4
2-48030647-C-CC c.3261dup p.Phe1088Leufs*5 Frameshift 5/10 - 42
2-48030647-CC-C c.3261del p.Phe1088Serfs*2 Frameshift 5/10 - 20
2-48030647-C-G c.3261C>G p.Pro1087Pro Synonymous 5/10 - 1
2-48030647-C-A c.3261C>A p.Pro1087Pro Synonymous 5/10 - 1
2-48030647-C-T c.3261C>T p.Pro1087Pro Synonymous 5/10 - 1
2-48030649-T-TT c.3263dup p.Glu1090Argfs*3 Frameshift 5/10 - 1
2-48030649-T-C c.3263T>C p.Phe1088Ser Missense 5/10 - 2
2-48030654-AGAGCT-A c.3268_3272del p.Glu1090* Frameshift 5/10 - 1
2-48030654-G-T c.3268G>T p.Glu1090* Nonsense 5/10 - 2
2-48030654-AGAGCTTA-A c.3268_3274del p.Glu1090Lysfs*23 Frameshift 5/10 - 1
2-48030659-T-TT c.3273dup p.Lys1092* Nonsense 5/10 - 3
2-48030669-C-T c.3283C>T p.Arg1095Cys Missense 5/10 - 2
2-48030670-G-A c.3284G>A p.Arg1095His Missense 5/10 - 5
2-48030672-CA-GC c.3286_3287delinsGC p.His1096Ala Missense 5/10 - 3
2-48030680-C-G c.3294C>G p.Cys1098Trp Missense 5/10 - 1
2-48030680-C-A c.3294C>A p.Cys1098* Nonsense 5/10 - 1
2-48030682-T-A c.3296T>A p.Ile1099Asn Missense 5/10 - 1
2-48030682-ATT-A c.3296_3297del p.Ile1099Asnfs*8 Frameshift 5/10 - 1
2-48030685-C-T c.3299C>T p.Thr1100Met Missense 5/10 - 1
2-48030686-G-A c.3300G>A p.Thr1100Thr Synonymous 5/10 - 1
2-48030689-G-C c.3303G>C p.Lys1101Asn Missense 5/10 - 1
2-48030689-G-T c.3303G>T p.Lys1101Asn Missense 5/10 - 1
2-48030692-T-A c.3306T>A p.Thr1102Thr Synonymous 5/10 - 6
2-48030697-TTT-T c.3311_3312del p.Phe1104Trpfs*3 Frameshift 5/10 - 2
2-48030698-TT-T c.3312del p.Phe1104Leufs*11 Frameshift 5/10 - 2
2-48030698-T-A c.3312T>A p.Phe1104Leu Missense 5/10 - 1
2-48030698-T-TT c.3312dup p.Gly1105Trpfs*3 Frameshift 5/10 - 1
2-48030724-T-TGAAT c.3338_3339insGAAT p.Ile1113Metfs*7 Frameshift 5/10 - 1
2-48030727-T-TC c.3341_3342insC p.Ile1115Asnfs*4 Frameshift 5/10 - 1
2-48030730-T-C c.3344T>C p.Ile1115Thr Missense 5/10 - 1
2-48030772-TGTG-T c.3386_3388del p.Cys1129_Val1130delinsLeu MultiAAMissense 5/10 - 2
2-48030786-G-A c.3400G>A p.Gly1134Arg Missense 5/10 - 1
2-48030786-G-C c.3400G>C p.Gly1134Arg Missense 5/10 - 1
2-48030790-C-CC c.3404dup p.Asn1136Lysfs*28 Frameshift 5/10 - 1
2-48030793-A-G c.3407A>G p.Asn1136Ser Missense 5/10 - 1
2-48030801-G-A c.3415G>A p.Gly1139Ser Missense 5/10 - 4
2-48030804-AA-GC c.3418_3419delinsGC p.Lys1140Ala Missense 5/10 - 1
2-48030805-A-G c.3419A>G p.Lys1140Arg Missense 5/10 - 2
2-48030811-C-T c.3425C>T p.Thr1142Met Missense 5/10 - 1
2-48030825-G-A c.3438+1G>A - IntronicSNV - 5/9 4
2-48030825-G-C c.3438+1G>C - IntronicSNV - 5/9 1
2-48030830-T-C c.3438+6T>C - IntronicSNV - 5/9 1
2-48030838-A-T c.3438+14A>T - IntronicSNV - 5/9 9
2-48030840-AA-A c.3438+16del - IntronicDeletion - 5/9 1
2-48032033-C-T c.3439-16C>T - IntronicSNV - 5/9 3
2-48032048-G-T c.3439-1G>T - IntronicSNV - 5/9 3
2-48032062-C-T c.3452C>T p.Ala1151Val Missense 6/10 - 1
2-48032079-G-A c.3469G>A p.Gly1157Ser Missense 6/10 - 2
2-48032083-TGTT-T c.3473_3475del p.Cys1158del InFrameDeletion 6/10 - 1
2-48032094-G-C c.3484G>C p.Ala1162Pro Missense 6/10 - 1
2-48032095-GCTG-G c.3485_3487del p.Ala1162del InFrameDeletion 6/10 - 1
2-48032097-G-T c.3487G>T p.Glu1163* Nonsense 6/10 - 3
2-48032098-A-T c.3488A>T p.Glu1163Val Missense 6/10 - 9
2-48032120-TT-T c.3510del p.Ile1170Metfs*14 Frameshift 6/10 - 1
2-48032123-ATA-A c.3513_3514del p.Asp1171Glufs*5 Frameshift 6/10 - 2
2-48032124-A-AA c.3514dup p.Arg1172Lysfs*5 Frameshift 6/10 - 9
2-48032169-TGAGTTTTTTGT-T c.3556+3_3556+13del - IntronicDeletion - 6/9 2
2-48032312-G-T c.3556+146G>T - IntronicSNV - 6/9 2
2-48032312-G-A c.3556+146G>A - IntronicSNV - 6/9 2
2-48032326-T-C c.3556+160T>C - IntronicSNV - 6/9 1
2-48032717-T-A c.3557-40T>A - IntronicSNV - 6/9 1
2-48032755-A-G c.3557-2A>G - IntronicSNV - 6/9 1
2-48032755-A-T c.3557-2A>T - IntronicSNV - 6/9 1
2-48032756-G-A c.3557-1G>A - IntronicSNV - 6/9 1
2-48032758-GTGAAAGTA-G c.3558_3565del p.Glu1187Ilefs*4 SpliceAcceptorDeletion 7/10 - 1
2-48032759-TGAAAGTACATTTTTTGTTGAATTAAGTGAAACTGCCAGCATACTCATGCATGCAACAGC-T c.3559_3617del p.Glu1187Thrfs*8 InFrameDeletion 7/10 - 1
2-48032767-A-C c.3567A>C p.Thr1189Thr Synonymous 7/10 - 1
2-48032767-A-T c.3567A>T p.Thr1189Thr Synonymous 7/10 - 1
2-48032767-A-G c.3567A>G p.Thr1189Thr Synonymous 7/10 - 1
2-48032773-TT-T c.3573del p.Phe1191Leufs*4 Frameshift 7/10 - 1
2-48032773-T-TT c.3573dup p.Val1192Cysfs*2 Frameshift 7/10 - 1
2-48032774-TG-T c.3574del p.Val1192Leufs*3 Frameshift 7/10 - 2
2-48032777-GA-CT c.3577_3578delinsCT p.Glu1193Leu Missense 7/10 - 1
2-48032777-G-A c.3577G>A p.Glu1193Lys Missense 7/10 - 3
2-48032783-A-G c.3583A>G p.Ser1195Gly Missense 7/10 - 1
2-48032800-TAC-T c.3600_3601del p.Leu1201Hisfs*13 Frameshift 7/10 - 1
2-48032800-A-G c.3600A>G p.Ile1200Met Missense 7/10 - 1
2-48032832-T-C c.3632T>C p.Leu1211Pro Missense 7/10 - 2
2-48032839-T-A c.3639T>A p.Asp1213Glu Missense 7/10 - 1
2-48032848-T-TT c.3646+2dup - IntronicInsertion - 7/9 2
2-48032881-TATCT-T c.3646+35_3646+38del - IntronicDeletion - 7/9 2
2-48032937-T-C c.3646+91T>C - IntronicSNV - 7/9 1
2-48033342-G-A c.3647-1G>A - IntronicSNV - 7/9 1
2-48033343-G-A c.3647G>A p.Gly1216Glu Missense 8/10 - 1
2-48033351-AC-GA c.3655_3656delinsGA p.Thr1219Asp Missense 8/10 - 3
2-48033352-C-T c.3656C>T p.Thr1219Ile Missense 8/10 - 8
2-48033360-T-G c.3664T>G p.Phe1222Val Missense 8/10 - 1
2-48033370-C-T c.3674C>T p.Thr1225Met Missense 8/10 - 1
2-48033374-A-G c.3678A>G p.Ala1226Ala Synonymous 8/10 - 1
2-48033378-G-C c.3682G>C p.Ala1228Pro Missense 8/10 - 1
2-48033385-C-G c.3689C>G p.Ala1230Gly Missense 8/10 - 1
2-48033388-T-TG c.3692_3693insG p.Val1232Cysfs*2 Frameshift 8/10 - 1
2-48033390-TGTT-T c.3694_3696del p.Val1232del InFrameDeletion 8/10 - 1
2-48033396-G-T c.3700G>T p.Glu1234* Nonsense 8/10 - 1
2-48033418-G-A c.3722G>A p.Cys1241Tyr Missense 8/10 - 1
2-48033420-TC-T c.3724del p.Arg1242Valfs*11 Frameshift 8/10 - 1
2-48033420-C-T c.3724C>T p.Arg1242Cys Missense 8/10 - 1
2-48033421-CGTA-C c.3725_3727del p.Arg1242_Thr1243delinsPro MultiAAMissense 8/10 - 1
2-48033421-G-T c.3725G>T p.Arg1242Leu Missense 8/10 - 1
2-48033421-G-A c.3725G>A p.Arg1242His Missense 8/10 - 2
2-48033438-C-G c.3742C>G p.His1248Asp Missense 8/10 - 3
2-48033441-T-TT c.3745dup p.Tyr1249Leufs*26 Frameshift 8/10 - 1
2-48033458-A-T c.3762A>T p.Glu1254Asp Missense 8/10 - 1
2-48033458-A-C c.3762A>C p.Glu1254Asp Missense 8/10 - 1
2-48033464-T-G c.3768T>G p.Tyr1256* Nonsense 8/10 - 1
2-48033468-C-T c.3772C>T p.Gln1258* Nonsense 8/10 - 2
2-48033468-C-G c.3772C>G p.Gln1258Glu Missense 8/10 - 4
2-48033495-TAT-T c.3799_3800del p.Met1267Glyfs*7 SpliceDonorDeletion 8/10 - 1
2-48033498-GGTATG-G c.3801+1_3801+5del - SpliceDonorDeletion - 8/9 1
2-48033502-G-A c.3801+5G>A - IntronicSNV - 8/9 1
2-48033551-C-G c.3802-40C>G - IntronicSNV - 8/9 3
2-48033551-C-T c.3802-40C>T - IntronicSNV - 8/9 2
2-48033584-TTCTT-T c.3802-7_3802-4del - IntronicDeletion - 8/9 1
2-48033593-A-AA c.3804dup p.Cys1269Metfs*6 Frameshift 9/10 - 3
2-48033611-A-AA c.3822dup p.Cys1275Metfs*2 Frameshift 9/10 - 1
2-48033613-G-A c.3824G>A p.Cys1275Tyr Missense 9/10 - 1
2-48033615-G-T c.3826G>T p.Glu1276* Nonsense 9/10 - 2
2-48033621-CCCCAGCCAGGAGAC-C c.3832_3845del p.Pro1278Tyrfs*6 Frameshift 9/10 - 2
2-48033624-AG-CC c.3835_3836delinsCC p.Ser1279Pro Missense 9/10 - 1
2-48033627-C-T c.3838C>T p.Gln1280* Nonsense 9/10 - 3
2-48033629-AGGAGACT-A c.3840_3846del p.Glu1281Leufs*44 Frameshift 9/10 - 2
2-48033631-A-G c.3842A>G p.Glu1281Gly Missense 9/10 - 1
2-48033637-ATTACGTTCCTCTATA-A c.3848_3862del p.Ile1283_Tyr1287del InFrameDeletion 9/10 - 2
2-48033640-C-T c.3851C>T p.Thr1284Met Missense 9/10 - 3
2-48033641-G-A c.3852G>A p.Thr1284Thr Synonymous 9/10 - 1
2-48033648-CTAT-C c.3859_3861del p.Tyr1287del InFrameDeletion 9/10 - 1
2-48033655-TC-AA c.3866_3867delinsAA p.Phe1289* Nonsense 9/10 - 1
2-48033676-AAAAGCTA-A c.3887_3893del p.Lys1296Metfs*29 Frameshift 9/10 - 1
2-48033685-G-A c.3896G>A p.Gly1299Asp Missense 9/10 - 1
2-48033696-G-A c.3907G>A p.Ala1303Thr Missense 9/10 - 2
2-48033700-G-A c.3911G>A p.Arg1304Lys Missense 9/10 - 1
2-48033717-AGAGGA-A c.3928_3932del p.Glu1310Serfs*7 Frameshift 9/10 - 1
2-48033719-G-C c.3930G>C p.Glu1310Asp Missense 9/10 - 1
2-48033719-G-T c.3930G>T p.Glu1310Asp Missense 9/10 - 1
2-48033727-T-C c.3938T>C p.Ile1313Thr Missense 9/10 - 1
2-48033728-T-TT c.3939dup p.Gln1314Serfs*5 Frameshift 9/10 - 1
2-48033738-ACATAGAAAAGCAAGAGA-A c.3949_3965del p.His1317Ilefs*2 Frameshift 9/10 - 1
2-48033740-T-TT c.3951dup p.Arg1318* Nonsense 9/10 - 1
2-48033740-T-G c.3951T>G p.His1317Gln Missense 9/10 - 1
2-48033743-A-AT c.3954_3955insT p.Lys1319* Nonsense 9/10 - 1
2-48033744-A-C c.3955A>C p.Lys1319Gln Missense 9/10 - 1
2-48033746-A-AA c.3957dup p.Ala1320Serfs*5 Frameshift 9/10 - 3
2-48033748-GCAAG-G c.3959_3962del p.Ala1320Glufs*6 Frameshift 9/10 - 9
2-48033750-A-G c.3961A>G p.Arg1321Gly Missense 9/10 - 3
2-48033752-A-T c.3963A>T p.Arg1321Ser Missense 9/10 - 1
2-48033753-G-T c.3964G>T p.Glu1322* Nonsense 9/10 - 2
2-48033763-AAGA-A c.3974_3976del p.Lys1325del InFrameDeletion 9/10 - 4
2-48033767-G-GT c.3978_3979insT p.Asn1327* Nonsense 9/10 - 1
2-48033773-G-GG c.3984dup p.Ser1329Valfs*12 Frameshift 9/10 - 1
2-48033775-C-T c.3986C>T p.Ser1329Leu Missense 9/10 - 1
2-48033780-C-T c.3991C>T p.Arg1331* Nonsense 9/10 - 4
2-48033781-G-A c.3992G>A p.Arg1331Gln Missense 9/10 - 1
2-48033789-C-T c.4000C>T p.Arg1334Trp Missense 9/10 - 1
2-48033790-G-A c.4001G>A p.Arg1334Gln Missense 9/10 - 6
2-48033792-GT-G c.4001+2del - IntronicDeletion - 9/9 1
2-48033801-TAACTATAATGGAATTATAACTAACT-T c.4001+11_4001+35del - IntronicDeletion - 9/9 1
2-48033802-AACTA-A c.4001+12_4001+15del - IntronicDeletion - 9/9 1
2-48033908-T-A c.4002-10T>A - IntronicSNV - 9/9 1
2-48033916-A-G c.4002-2A>G - IntronicSNV - 9/9 1
2-48033920-A-C c.4004A>C p.Glu1335Ala Missense 10/10 - 2
2-48033949-G-T c.4033G>T p.Val1345Leu Missense 10/10 - 1
2-48033967-C-G c.4051C>G p.His1351Asp Missense 10/10 - 1
2-48033977-T-A c.4061T>A p.Leu1354Gln Missense 10/10 - 4
2-48033981-T-TGTGA c.4065_4066insGTGA p.Leu1356Valfs*4 Frameshift 10/10 - 1
2-48033984-GATT-GATTGATT c.4068_4071dup p.Lys1358Aspfs*2 Frameshift 10/10 - 3
2-48033987-T-TT c.4071dup p.Lys1358* Nonsense 10/10 - 1
2-48033988-AAG-GAC c.4072_4074delinsGAC p.Lys1358Asp Missense 10/10 - 1
2-48034084-T-A c.*85T>A - 3-UTRSNV 10/10 - 1