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 |