10-43572670-G-C |
c.-37G>C |
- |
5-UTRSNV |
1/20 |
- |
1 |
10-43572731-G-A |
c.25G>A |
p.Ala9Thr |
Missense |
1/20 |
- |
1 |
10-43572734-G-A |
c.28G>A |
p.Gly10Arg |
Missense |
1/20 |
- |
1 |
10-43572734-GGG-AAC |
c.28_30delinsAAC |
p.Gly10Asn |
Missense |
1/20 |
- |
2 |
10-43572735-G-A |
c.29G>A |
p.Gly10Glu |
Missense |
1/20 |
- |
1 |
10-43572738-T-G |
c.32T>G |
p.Leu11Arg |
Missense |
1/20 |
- |
1 |
10-43572739-G-A |
c.33G>A |
p.Leu11Leu |
Synonymous |
1/20 |
- |
1 |
10-43572740-CG-GC |
c.34_35delinsGC |
p.Arg12Ala |
Missense |
1/20 |
- |
1 |
10-43572741-G-T |
c.35G>T |
p.Arg12Leu |
Missense |
1/20 |
- |
1 |
10-43572741-G-C |
c.35G>C |
p.Arg12Pro |
Missense |
1/20 |
- |
1 |
10-43572743-CT-GC |
c.37_38delinsGC |
p.Leu13Ala |
Missense |
1/20 |
- |
1 |
10-43572748-TG-T |
c.42del |
p.Leu15Cysfs*8 |
Frameshift |
1/20 |
- |
1 |
10-43572759-T-G |
c.53T>G |
p.Leu18Arg |
Missense |
1/20 |
- |
1 |
10-43572779-G-A |
c.73G>A |
p.Val25Met |
Missense |
1/20 |
- |
1 |
10-43573558-C-T |
c.73+779C>T |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43574592-T-C |
c.73+1813T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43574936-T-C |
c.73+2157T>C |
- |
IntronicSNV |
- |
1/19 |
3 |
10-43575599-C-T |
c.73+2820C>T |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43575625-T-G |
c.73+2846T>G |
- |
IntronicSNV |
- |
1/19 |
5 |
10-43575883-T-C |
c.73+3104T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43576221-G-A |
c.73+3442G>A |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43576249-A-T |
c.73+3470A>T |
- |
IntronicSNV |
- |
1/19 |
2 |
10-43576249-A-G |
c.73+3470A>G |
- |
IntronicSNV |
- |
1/19 |
2 |
10-43576567-G-C |
c.73+3788G>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43577026-G-C |
c.73+4247G>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43577026-G-A |
c.73+4247G>A |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43577873-A-T |
c.73+5094A>T |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43578779-A-C |
c.73+6000A>C |
- |
IntronicSNV |
- |
1/19 |
4 |
10-43578915-T-A |
c.73+6136T>A |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43578915-T-G |
c.73+6136T>G |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43578953-A-G |
c.73+6174A>G |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43579073-C-T |
c.73+6294C>T |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43579073-C-G |
c.73+6294C>G |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43579530-C-T |
c.73+6751C>T |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43579536-G-C |
c.73+6757G>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43579536-G-A |
c.73+6757G>A |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43579592-T-C |
c.73+6813T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43580015-A-C |
c.73+7236A>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43580015-A-G |
c.73+7236A>G |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43580215-G-A |
c.73+7436G>A |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43580215-G-C |
c.73+7436G>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43580224-C-A |
c.73+7445C>A |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43580773-G-A |
c.73+7994G>A |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43580773-G-C |
c.73+7994G>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43582056-T-C |
c.73+9277T>C |
- |
IntronicSNV |
- |
1/19 |
60 |
10-43582273-A-T |
c.73+9494A>T |
- |
IntronicSNV |
- |
1/19 |
5 |
10-43582273-A-C |
c.73+9494A>C |
- |
IntronicSNV |
- |
1/19 |
6 |
10-43583150-A-G |
c.73+10371A>G |
- |
IntronicSNV |
- |
1/19 |
3 |
10-43583150-A-T |
c.73+10371A>T |
- |
IntronicSNV |
- |
1/19 |
3 |
10-43584148-C-T |
c.73+11369C>T |
- |
IntronicSNV |
- |
1/19 |
2 |
10-43584256-T-C |
c.73+11477T>C |
- |
IntronicSNV |
- |
1/19 |
2 |
10-43584416-C-T |
c.74-11491C>T |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43585621-T-G |
c.74-10286T>G |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43585874-T-C |
c.74-10033T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43585889-T-C |
c.74-10018T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43587859-T-C |
c.74-8048T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43588196-G-A |
c.74-7711G>A |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43588313-A-G |
c.74-7594A>G |
- |
IntronicSNV |
- |
1/19 |
2 |
10-43588381-T-C |
c.74-7526T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43588429-C-T |
c.74-7478C>T |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43588918-A-G |
c.74-6989A>G |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43589649-C-A |
c.74-6258C>A |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43589649-C-G |
c.74-6258C>G |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43589649-C-T |
c.74-6258C>T |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43590115-T-C |
c.74-5792T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43590240-T-C |
c.74-5667T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43590240-T-G |
c.74-5667T>G |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43590868-T-C |
c.74-5039T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43590868-T-G |
c.74-5039T>G |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43590901-G-T |
c.74-5006G>T |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43590901-G-A |
c.74-5006G>A |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43590901-G-C |
c.74-5006G>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43591403-A-G |
c.74-4504A>G |
- |
IntronicSNV |
- |
1/19 |
2 |
10-43592158-T-C |
c.74-3749T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43592204-A-T |
c.74-3703A>T |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43592809-G-C |
c.74-3098G>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43593043-A-G |
c.74-2864A>G |
- |
IntronicSNV |
- |
1/19 |
3 |
10-43594453-T-C |
c.74-1454T>C |
- |
IntronicSNV |
- |
1/19 |
3 |
10-43594453-T-A |
c.74-1454T>A |
- |
IntronicSNV |
- |
1/19 |
2 |
10-43594528-T-A |
c.74-1379T>A |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43594545-C-T |
c.74-1362C>T |
- |
IntronicSNV |
- |
1/19 |
5 |
10-43594578-G-A |
c.74-1329G>A |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43594617-T-C |
c.74-1290T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43595194-C-G |
c.74-713C>G |
- |
IntronicSNV |
- |
1/19 |
1 |
10-43595781-G-T |
c.74-126G>T |
- |
IntronicSNV |
- |
1/19 |
9 |
10-43595781-G-A |
c.74-126G>A |
- |
IntronicSNV |
- |
1/19 |
5 |
10-43595928-C-T |
c.95C>T |
p.Ser32Leu |
Missense |
2/20 |
- |
2 |
10-43595961-A-T |
c.128A>T |
p.Asp43Val |
Missense |
2/20 |
- |
1 |
10-43595962-C-CA |
c.129_130insA |
p.Gln44Thrfs*18 |
Frameshift |
2/20 |
- |
1 |
10-43595967-CA-AC |
c.134_135delinsAC |
p.Ala45Asp |
Missense |
2/20 |
- |
1 |
10-43595967-C-T |
c.134C>T |
p.Ala45Val |
Missense |
2/20 |
- |
1 |
10-43595968-A-T |
c.135A>T |
p.Ala45Ala |
Synonymous |
2/20 |
- |
24 |
10-43595968-A-C |
c.135A>C |
p.Ala45Ala |
Synonymous |
2/20 |
- |
34 |
10-43595968-A-G |
c.135A>G |
p.Ala45Ala |
Synonymous |
2/20 |
- |
35 |
10-43595975-A-T |
c.142A>T |
p.Thr48Ser |
Missense |
2/20 |
- |
1 |
10-43595991-TC-AG |
c.158_159delinsAG |
p.Val53Glu |
Missense |
2/20 |
- |
1 |
10-43595996-G-A |
c.163G>A |
p.Ala55Thr |
Missense |
2/20 |
- |
1 |
10-43595999-C-A |
c.166C>A |
p.Leu56Met |
Missense |
2/20 |
- |
8 |
10-43596002-C-T |
c.169C>T |
p.Arg57Trp |
Missense |
2/20 |
- |
1 |
10-43596003-G-A |
c.170G>A |
p.Arg57Gln |
Missense |
2/20 |
- |
1 |
10-43596009-C-T |
c.176C>T |
p.Ala59Val |
Missense |
2/20 |
- |
1 |
10-43596015-A-C |
c.182A>C |
p.Glu61Ala |
Missense |
2/20 |
- |
1 |
10-43596015-A-T |
c.182A>T |
p.Glu61Val |
Missense |
2/20 |
- |
1 |
10-43596027-G-C |
c.194G>C |
p.Ser65Thr |
Missense |
2/20 |
- |
1 |
10-43596033-G-GTCC |
c.200_201insTCC |
p.Arg67_Leu68insPro |
InFrameInsertion |
2/20 |
- |
1 |
10-43596033-G-A |
c.200G>A |
p.Arg67His |
Missense |
2/20 |
- |
1 |
10-43596035-CTG-GAC |
c.202_204delinsGAC |
p.Leu68Asp |
Missense |
2/20 |
- |
1 |
10-43596036-T-A |
c.203T>A |
p.Leu68Gln |
Missense |
2/20 |
- |
1 |
10-43596038-G-T |
c.205G>T |
p.Gly69Cys |
Missense |
2/20 |
- |
1 |
10-43596057-C-T |
c.224C>T |
p.Thr75Met |
Missense |
2/20 |
- |
1 |
10-43596062-C-T |
c.229C>T |
p.Arg77Cys |
Missense |
2/20 |
- |
7 |
10-43596063-GC-AA |
c.230_231delinsAA |
p.Arg77Gln |
Missense |
2/20 |
- |
1 |
10-43596063-G-A |
c.230G>A |
p.Arg77His |
Missense |
2/20 |
- |
1 |
10-43596063-G-T |
c.230G>T |
p.Arg77Leu |
Missense |
2/20 |
- |
1 |
10-43596068-C-T |
c.235C>T |
p.Arg79Trp |
Missense |
2/20 |
- |
2 |
10-43596069-G-T |
c.236G>T |
p.Arg79Leu |
Missense |
2/20 |
- |
1 |
10-43596069-G-A |
c.236G>A |
p.Arg79Gln |
Missense |
2/20 |
- |
1 |
10-43596087-G-A |
c.254G>A |
p.Trp85* |
Nonsense |
2/20 |
- |
4 |
10-43596095-A-G |
c.262A>G |
p.Ile88Val |
Missense |
2/20 |
- |
1 |
10-43596095-ATC-TGG |
c.262_264delinsTGG |
p.Ile88Trp |
Missense |
2/20 |
- |
1 |
10-43596101-G-A |
c.268G>A |
p.Glu90Lys |
Missense |
2/20 |
- |
2 |
10-43596104-GA-TG |
c.271_272delinsTG |
p.Asp91Cys |
Missense |
2/20 |
- |
1 |
10-43596105-A-C |
c.272A>C |
p.Asp91Ala |
Missense |
2/20 |
- |
1 |
10-43596110-G-A |
c.277G>A |
p.Gly93Ser |
Missense |
2/20 |
- |
3 |
10-43596111-G-C |
c.278G>C |
p.Gly93Ala |
Missense |
2/20 |
- |
2 |
10-43596113-CT-GC |
c.280_281delinsGC |
p.Leu94Ala |
Missense |
2/20 |
- |
1 |
10-43596119-T-G |
c.286T>G |
p.Tyr96Asp |
Missense |
2/20 |
- |
1 |
10-43596120-A-C |
c.287A>C |
p.Tyr96Ser |
Missense |
2/20 |
- |
1 |
10-43596122-CT-GC |
c.289_290delinsGC |
p.Leu97Ala |
Missense |
2/20 |
- |
1 |
10-43596131-AG-CC |
c.298_299delinsCC |
p.Ser100Pro |
Missense |
2/20 |
- |
3 |
10-43596131-AGC-TGA |
c.298_300delinsTGA |
p.Ser100* |
Nonsense |
2/20 |
- |
1 |
10-43596133-C-T |
c.300C>T |
p.Ser100Ser |
Synonymous |
2/20 |
- |
2 |
10-43596134-CTG-ATC |
c.301_303delinsATC |
p.Leu101Ile |
Missense |
2/20 |
- |
1 |
10-43596147-CC-AA |
c.314_315delinsAA |
p.Ser105* |
Nonsense |
2/20 |
- |
1 |
10-43596179-G-A |
c.337+9G>A |
- |
IntronicSNV |
- |
2/19 |
2 |
10-43597793-G-A |
c.341G>A |
p.Arg114His |
Missense |
3/20 |
- |
4 |
10-43597804-CC-C |
c.352del |
p.Leu118Cysfs*106 |
Frameshift |
3/20 |
- |
1 |
10-43597861-T-G |
c.409T>G |
p.Cys137Gly |
Missense |
3/20 |
- |
2 |
10-43597870-C-T |
c.418C>T |
p.Pro140Ser |
Missense |
3/20 |
- |
1 |
10-43597879-GCC-ATG |
c.427_429delinsATG |
p.Ala143Met |
Missense |
3/20 |
- |
1 |
10-43597885-G-T |
c.433G>T |
p.Val145Leu |
Missense |
3/20 |
- |
1 |
10-43597885-G-C |
c.433G>C |
p.Val145Leu |
Missense |
3/20 |
- |
1 |
10-43597886-T-G |
c.434T>G |
p.Val145Gly |
Missense |
3/20 |
- |
5 |
10-43597888-T-C |
c.436T>C |
p.Tyr146His |
Missense |
3/20 |
- |
1 |
10-43597892-TTCT-T |
c.440_442del |
p.Phe147del |
InFrameDeletion |
3/20 |
- |
1 |
10-43597910-C-A |
c.458C>A |
p.Ser153Tyr |
Missense |
3/20 |
- |
1 |
10-43597910-C-T |
c.458C>T |
p.Ser153Phe |
Missense |
3/20 |
- |
1 |
10-43597916-C-T |
c.464C>T |
p.Pro155Leu |
Missense |
3/20 |
- |
1 |
10-43597918-G-T |
c.466G>T |
p.Ala156Ser |
Missense |
3/20 |
- |
1 |
10-43597922-G-A |
c.470G>A |
p.Cys157Tyr |
Missense |
3/20 |
- |
1 |
10-43597931-TC-AT |
c.479_480delinsAT |
p.Leu160His |
Missense |
3/20 |
- |
1 |
10-43597939-C-G |
c.487C>G |
p.Arg163Gly |
Missense |
3/20 |
- |
1 |
10-43597942-G-A |
c.490G>A |
p.Glu164Lys |
Missense |
3/20 |
- |
1 |
10-43597963-AG-CA |
c.511_512delinsCA |
p.Arg171Gln |
Missense |
3/20 |
- |
1 |
10-43597975-CCGC-C |
c.523_525del |
p.Arg175del |
InFrameDeletion |
3/20 |
- |
2 |
10-43597975-C-T |
c.523C>T |
p.Arg175Cys |
Missense |
3/20 |
- |
1 |
10-43597981-CG-TA |
c.529_530delinsTA |
p.Arg177* |
Nonsense |
3/20 |
- |
1 |
10-43597990-C-T |
c.538C>T |
p.Arg180* |
Nonsense |
3/20 |
- |
2 |
10-43597991-G-C |
c.539G>C |
p.Arg180Pro |
Missense |
3/20 |
- |
1 |
10-43597991-G-A |
c.539G>A |
p.Arg180Gln |
Missense |
3/20 |
- |
1 |
10-43598011-C-T |
c.559C>T |
p.Gln187* |
Nonsense |
3/20 |
- |
1 |
10-43598045-C-G |
c.593C>G |
p.Pro198Arg |
Missense |
3/20 |
- |
1 |
10-43598056-G-A |
c.604G>A |
p.Val202Met |
Missense |
3/20 |
- |
1 |
10-43598064-C-T |
c.612C>T |
p.Tyr204Tyr |
Synonymous |
3/20 |
- |
1 |
10-43598067-G-T |
c.615G>T |
p.Arg205Ser |
Missense |
3/20 |
- |
1 |
10-43598067-G-C |
c.615G>C |
p.Arg205Ser |
Missense |
3/20 |
- |
1 |
10-43600402-G-A |
c.628G>A |
p.Glu210Lys |
Missense |
4/20 |
- |
2 |
10-43600418-G-T |
c.644G>T |
p.Arg215Leu |
Missense |
4/20 |
- |
2 |
10-43600428-G-C |
c.654G>C |
p.Pro218Pro |
Synonymous |
4/20 |
- |
1 |
10-43600428-G-A |
c.654G>A |
p.Pro218Pro |
Synonymous |
4/20 |
- |
1 |
10-43600428-G-T |
c.654G>T |
p.Pro218Pro |
Synonymous |
4/20 |
- |
1 |
10-43600429-GAC-TAA |
c.655_657delinsTAA |
p.Asp219* |
Nonsense |
4/20 |
- |
1 |
10-43600435-CT-AA |
c.661_662delinsAA |
p.Leu221Lys |
Missense |
4/20 |
- |
1 |
10-43600441-G-A |
c.667G>A |
p.Val223Met |
Missense |
4/20 |
- |
1 |
10-43600442-TG-AC |
c.668_669delinsAC |
p.Val223Asp |
Missense |
4/20 |
- |
1 |
10-43600450-CG-GC |
c.676_677delinsGC |
p.Arg226Ala |
Missense |
4/20 |
- |
1 |
10-43600452-C-T |
c.678C>T |
p.Arg226Arg |
Synonymous |
4/20 |
- |
1 |
10-43600465-C-T |
c.691C>T |
p.Arg231Cys |
Missense |
4/20 |
- |
1 |
10-43600466-G-A |
c.692G>A |
p.Arg231His |
Missense |
4/20 |
- |
4 |
10-43600475-G-C |
c.701G>C |
p.Arg234Pro |
Missense |
4/20 |
- |
1 |
10-43600486-G-T |
c.712G>T |
p.Glu238* |
Nonsense |
4/20 |
- |
1 |
10-43600496-CC-AG |
c.722_723delinsAG |
p.Ala241Glu |
Missense |
4/20 |
- |
1 |
10-43600498-G-A |
c.724G>A |
p.Val242Met |
Missense |
4/20 |
- |
1 |
10-43600505-C-T |
c.731C>T |
p.Thr244Ile |
Missense |
4/20 |
- |
1 |
10-43600510-GCACGCCG-G |
c.736_742del |
p.His246Alafs*7 |
Frameshift |
4/20 |
- |
1 |
10-43600516-G-A |
c.742G>A |
p.Gly248Ser |
Missense |
4/20 |
- |
1 |
10-43600517-G-T |
c.743G>T |
p.Gly248Val |
Missense |
4/20 |
- |
1 |
10-43600524-GCG-G |
c.750_751del |
p.Glu251Glyfs*102 |
Frameshift |
4/20 |
- |
1 |
10-43600526-A-G |
c.752A>G |
p.Glu251Gly |
Missense |
4/20 |
- |
1 |
10-43600528-G-A |
c.754G>A |
p.Glu252Lys |
Missense |
4/20 |
- |
1 |
10-43600528-G-T |
c.754G>T |
p.Glu252* |
Nonsense |
4/20 |
- |
3 |
10-43600563-C-G |
c.789C>G |
p.Tyr263* |
Nonsense |
4/20 |
- |
3 |
10-43600579-G-A |
c.805G>A |
p.Ala269Thr |
Missense |
4/20 |
- |
1 |
10-43600583-C-T |
c.809C>T |
p.Pro270Leu |
Missense |
4/20 |
- |
3 |
10-43600594-CG-C |
c.820del |
p.Ala274Argfs*38 |
Frameshift |
4/20 |
- |
1 |
10-43600601-T-G |
c.827T>G |
p.Val276Gly |
Missense |
4/20 |
- |
1 |
10-43600606-A-G |
c.832A>G |
p.Thr278Ala |
Missense |
4/20 |
- |
1 |
10-43600606-A-C |
c.832A>C |
p.Thr278Pro |
Missense |
4/20 |
- |
1 |
10-43600607-C-A |
c.833C>A |
p.Thr278Asn |
Missense |
4/20 |
- |
5 |
10-43600616-C-T |
c.842C>T |
p.Ala281Val |
Missense |
4/20 |
- |
1 |
10-43600617-CC-C |
c.843del |
p.Val282Trpfs*30 |
Frameshift |
4/20 |
- |
1 |
10-43600618-G-T |
c.844G>T |
p.Val282Leu |
Missense |
4/20 |
- |
1 |
10-43600619-T-TT |
c.845dup |
p.Val283Glyfs*71 |
Frameshift |
4/20 |
- |
1 |
10-43600630-A-G |
c.856A>G |
p.Lys286Glu |
Missense |
4/20 |
- |
1 |
10-43600634-G-A |
c.860G>A |
p.Arg287Gln |
Missense |
4/20 |
- |
1 |
10-43600689-A-G |
c.867+48A>G |
- |
IntronicSNV |
- |
4/19 |
2 |
10-43601415-G-C |
c.868-409G>C |
- |
IntronicSNV |
- |
4/19 |
1 |
10-43601415-G-T |
c.868-409G>T |
- |
IntronicSNV |
- |
4/19 |
1 |
10-43601749-T-C |
c.868-75T>C |
- |
IntronicSNV |
- |
4/19 |
2 |
10-43601830-G-A |
c.874G>A |
p.Val292Met |
Missense |
5/20 |
- |
6 |
10-43601846-G-A |
c.890G>A |
p.Arg297His |
Missense |
5/20 |
- |
1 |
10-43601854-G-A |
c.898G>A |
p.Asp300Asn |
Missense |
5/20 |
- |
2 |
10-43601856-T-G |
c.900T>G |
p.Asp300Glu |
Missense |
5/20 |
- |
1 |
10-43601856-T-A |
c.900T>A |
p.Asp300Glu |
Missense |
5/20 |
- |
1 |
10-43601878-G-T |
c.922G>T |
p.Gly308Trp |
Missense |
5/20 |
- |
1 |
10-43601884-CTG-TGT |
c.928_930delinsTGT |
p.Leu310Cys |
Missense |
5/20 |
- |
1 |
10-43601893-C-T |
c.937C>T |
p.Arg313Trp |
Missense |
5/20 |
- |
2 |
10-43601893-CG-TA |
c.937_938delinsTA |
p.Arg313* |
Nonsense |
5/20 |
- |
1 |
10-43601894-G-A |
c.938G>A |
p.Arg313Gln |
Missense |
5/20 |
- |
2 |
10-43601899-A-G |
c.943A>G |
p.Thr315Ala |
Missense |
5/20 |
- |
1 |
10-43601900-C-T |
c.944C>T |
p.Thr315Ile |
Missense |
5/20 |
- |
43 |
10-43601903-G-T |
c.947G>T |
p.Ser316Ile |
Missense |
5/20 |
- |
1 |
10-43601917-GG-AA |
c.961_962delinsAA |
p.Gly321Lys |
Missense |
5/20 |
- |
1 |
10-43601917-G-T |
c.961G>T |
p.Gly321Trp |
Missense |
5/20 |
- |
1 |
10-43601917-G-A |
c.961G>A |
p.Gly321Arg |
Missense |
5/20 |
- |
3 |
10-43601917-G-C |
c.961G>C |
p.Gly321Arg |
Missense |
5/20 |
- |
3 |
10-43601928-G-C |
c.972G>C |
p.Trp324Cys |
Missense |
5/20 |
- |
1 |
10-43601937-G-A |
c.981G>A |
p.Gln327Gln |
Synonymous |
5/20 |
- |
1 |
10-43601943-C-A |
c.987C>A |
p.Phe329Leu |
Missense |
5/20 |
- |
1 |
10-43601943-C-G |
c.987C>G |
p.Phe329Leu |
Missense |
5/20 |
- |
1 |
10-43601941-T-C |
c.985T>C |
p.Phe329Leu |
Missense |
5/20 |
- |
1 |
10-43601944-C-T |
c.988C>T |
p.Arg330Trp |
Missense |
5/20 |
- |
1 |
10-43601945-G-A |
c.989G>A |
p.Arg330Gln |
Missense |
5/20 |
- |
2 |
10-43601969-CC-TG |
c.1013_1014delinsTG |
p.Thr338Met |
Missense |
5/20 |
- |
1 |
10-43601969-C-T |
c.1013C>T |
p.Thr338Ile |
Missense |
5/20 |
- |
3 |
10-43601980-GC-CT |
c.1024_1025delinsCT |
p.Ala342Leu |
Missense |
5/20 |
- |
1 |
10-43601981-C-G |
c.1025C>G |
p.Ala342Gly |
Missense |
5/20 |
- |
1 |
10-43601998-C-T |
c.1042C>T |
p.Arg348Trp |
Missense |
5/20 |
- |
1 |
10-43602028-G-A |
c.1063+9G>A |
- |
IntronicSNV |
- |
5/19 |
1 |
10-43603012-C-G |
c.1063+993C>G |
- |
IntronicSNV |
- |
5/19 |
2 |
10-43603012-C-T |
c.1063+993C>T |
- |
IntronicSNV |
- |
5/19 |
2 |
10-43603043-A-AAACA |
c.1063+1024_1063+1025insAACA |
- |
IntronicInsertion |
- |
5/19 |
1 |
10-43603462-G-A |
c.1064-1017G>A |
- |
IntronicSNV |
- |
5/19 |
1 |
10-43603919-G-A |
c.1064-560G>A |
- |
IntronicSNV |
- |
5/19 |
1 |
10-43604148-A-C |
c.1064-331A>C |
- |
IntronicSNV |
- |
5/19 |
1 |
10-43604390-A-T |
c.1064-89A>T |
- |
IntronicSNV |
- |
5/19 |
1 |
10-43604493-C-T |
c.1078C>T |
p.Arg360Trp |
Missense |
6/20 |
- |
4 |
10-43604498-C-G |
c.1083C>G |
p.Asn361Lys |
Missense |
6/20 |
- |
1 |
10-43604498-C-A |
c.1083C>A |
p.Asn361Lys |
Missense |
6/20 |
- |
1 |
10-43604524-T-C |
c.1109T>C |
p.Met370Thr |
Missense |
6/20 |
- |
1 |
10-43604533-C-T |
c.1118C>T |
p.Ala373Val |
Missense |
6/20 |
- |
3 |
10-43604542-T-C |
c.1127T>C |
p.Val376Ala |
Missense |
6/20 |
- |
1 |
10-43604572-C-T |
c.1157C>T |
p.Ala386Val |
Missense |
6/20 |
- |
1 |
10-43604580-C-T |
c.1165C>T |
p.Leu389Phe |
Missense |
6/20 |
- |
1 |
10-43604593-T-A |
c.1178T>A |
p.Phe393Tyr |
Missense |
6/20 |
- |
1 |
10-43604597-C-G |
c.1182C>G |
p.Asn394Lys |
Missense |
6/20 |
- |
1 |
10-43604597-C-A |
c.1182C>A |
p.Asn394Lys |
Missense |
6/20 |
- |
1 |
10-43604602-C-T |
c.1187C>T |
p.Ser396Leu |
Missense |
6/20 |
- |
1 |
10-43604604-G-A |
c.1189G>A |
p.Val397Met |
Missense |
6/20 |
- |
1 |
10-43604608-T-C |
c.1193T>C |
p.Leu398Pro |
Missense |
6/20 |
- |
1 |
10-43604611-C-T |
c.1196C>T |
p.Pro399Leu |
Missense |
6/20 |
- |
1 |
10-43604626-T-C |
c.1211T>C |
p.Leu404Pro |
Missense |
6/20 |
- |
1 |
10-43604640-T-A |
c.1225T>A |
p.Ser409Thr |
Missense |
6/20 |
- |
1 |
10-43604643-C-G |
c.1228C>G |
p.Leu410Val |
Missense |
6/20 |
- |
1 |
10-43604646-T-A |
c.1231T>A |
p.Ser411Thr |
Missense |
6/20 |
- |
1 |
10-43604649-G-A |
c.1234G>A |
p.Val412Met |
Missense |
6/20 |
- |
1 |
10-43604653-G-C |
c.1238G>C |
p.Ser413Thr |
Missense |
6/20 |
- |
1 |
10-43604667-C-T |
c.1252C>T |
p.Arg418* |
Nonsense |
6/20 |
- |
1 |
10-43604676-C-T |
c.1261C>T |
p.Gln421* |
Nonsense |
6/20 |
- |
1 |
10-43604677-A-C |
c.1262A>C |
p.Gln421Pro |
Missense |
6/20 |
- |
1 |
10-43604683-G-A |
c.1263+5G>A |
- |
IntronicSNV |
- |
6/19 |
1 |
10-43604950-A-G |
c.1263+272A>G |
- |
IntronicSNV |
- |
6/19 |
1 |
10-43605392-G-C |
c.1263+714G>C |
- |
IntronicSNV |
- |
6/19 |
1 |
10-43605392-G-A |
c.1263+714G>A |
- |
IntronicSNV |
- |
6/19 |
1 |
10-43606650-C-G |
c.1264-5C>G |
- |
IntronicSNV |
- |
6/19 |
1 |
10-43606650-C-T |
c.1264-5C>T |
- |
IntronicSNV |
- |
6/19 |
1 |
10-43606654-G-T |
c.1264-1G>T |
- |
IntronicSNV |
- |
6/19 |
1 |
10-43606658-G-A |
c.1267G>A |
p.Gly423Arg |
Missense |
7/20 |
- |
2 |
10-43606679-TG-AC |
c.1288_1289delinsAC |
p.Cys430Thr |
Missense |
7/20 |
- |
1 |
10-43606686-C-T |
c.1295C>T |
p.Ala432Val |
Missense |
7/20 |
- |
1 |
10-43606687-A-T |
c.1296A>T |
p.Ala432Ala |
Synonymous |
7/20 |
- |
11 |
10-43606687-A-G |
c.1296A>G |
p.Ala432Ala |
Synonymous |
7/20 |
- |
22 |
10-43606687-A-C |
c.1296A>C |
p.Ala432Ala |
Synonymous |
7/20 |
- |
11 |
10-43606694-G-C |
c.1303G>C |
p.Gly435Arg |
Missense |
7/20 |
- |
1 |
10-43606695-G-T |
c.1304G>T |
p.Gly435Val |
Missense |
7/20 |
- |
1 |
10-43606702-C-G |
c.1311C>G |
p.Asn437Lys |
Missense |
7/20 |
- |
1 |
10-43606716-T-C |
c.1325T>C |
p.Leu442Pro |
Missense |
7/20 |
- |
1 |
10-43606727-G-C |
c.1336G>C |
p.Gly446Arg |
Missense |
7/20 |
- |
1 |
10-43606743-C-T |
c.1352C>T |
p.Thr451Met |
Missense |
7/20 |
- |
1 |
10-43606745-C-A |
c.1354C>A |
p.Leu452Ile |
Missense |
7/20 |
- |
1 |
10-43606761-C-A |
c.1370C>A |
p.Ser457* |
Nonsense |
7/20 |
- |
1 |
10-43606773-C-T |
c.1382C>T |
p.Thr461Ile |
Missense |
7/20 |
- |
1 |
10-43606778-G-A |
c.1387G>A |
p.Gly463Arg |
Missense |
7/20 |
- |
1 |
10-43606781-A-G |
c.1390A>G |
p.Ile464Val |
Missense |
7/20 |
- |
1 |
10-43606781-AT-GC |
c.1390_1391delinsGC |
p.Ile464Ala |
Missense |
7/20 |
- |
1 |
10-43606786-G-C |
c.1395G>C |
p.Leu465Leu |
Synonymous |
7/20 |
- |
1 |
10-43606786-G-A |
c.1395G>A |
p.Leu465Leu |
Synonymous |
7/20 |
- |
1 |
10-43606786-G-T |
c.1395G>T |
p.Leu465Leu |
Synonymous |
7/20 |
- |
1 |
10-43606784-C-T |
c.1393C>T |
p.Leu465Leu |
Synonymous |
7/20 |
- |
1 |
10-43606791-T-C |
c.1400T>C |
p.Val467Ala |
Missense |
7/20 |
- |
1 |
10-43606808-C-T |
c.1417C>T |
p.Leu473Leu |
Synonymous |
7/20 |
- |
1 |
10-43606809-T-A |
c.1418T>A |
p.Leu473Gln |
Missense |
7/20 |
- |
1 |
10-43606814-C-T |
c.1423C>T |
p.Arg475Trp |
Missense |
7/20 |
- |
1 |
10-43606815-G-A |
c.1424G>A |
p.Arg475Gln |
Missense |
7/20 |
- |
1 |
10-43606817-C-T |
c.1426C>T |
p.Pro476Ser |
Missense |
7/20 |
- |
1 |
10-43606829-G-A |
c.1438G>A |
p.Glu480Lys |
Missense |
7/20 |
- |
1 |
10-43606853-A-T |
c.1462A>T |
p.Thr488Ser |
Missense |
7/20 |
- |
1 |
10-43606854-C-G |
c.1463C>G |
p.Thr488Ser |
Missense |
7/20 |
- |
1 |
10-43606856-G-A |
c.1465G>A |
p.Asp489Asn |
Missense |
7/20 |
- |
7 |
10-43606872-G-T |
c.1481G>T |
p.Arg494Met |
Missense |
7/20 |
- |
1 |
10-43606879-C-T |
c.1488C>T |
p.Ala496Ala |
Synonymous |
7/20 |
- |
1 |
10-43606880-C-T |
c.1489C>T |
p.Gln497* |
Nonsense |
7/20 |
- |
1 |
10-43606971-C-A |
c.1522+58C>A |
- |
IntronicSNV |
- |
7/19 |
1 |
10-43607553-C-T |
c.1529C>T |
p.Ala510Val |
Missense |
8/20 |
- |
1 |
10-43607555-G-A |
c.1531G>A |
p.Glu511Lys |
Missense |
8/20 |
- |
3 |
10-43607562-C-T |
c.1538C>T |
p.Ala513Val |
Missense |
8/20 |
- |
1 |
10-43607562-C-G |
c.1538C>G |
p.Ala513Gly |
Missense |
8/20 |
- |
4 |
10-43607568-G-C |
c.1544G>C |
p.Cys515Ser |
Missense |
8/20 |
- |
5 |
10-43607567-T-A |
c.1543T>A |
p.Cys515Ser |
Missense |
8/20 |
- |
5 |
10-43607569-C-G |
c.1545C>G |
p.Cys515Trp |
Missense |
8/20 |
- |
1 |
10-43607570-C-T |
c.1546C>T |
p.Pro516Ser |
Missense |
8/20 |
- |
1 |
10-43607595-G-A |
c.1571G>A |
p.Arg524Lys |
Missense |
8/20 |
- |
1 |
10-43607597-C-T |
c.1573C>T |
p.Arg525Trp |
Missense |
8/20 |
- |
2 |
10-43607598-G-A |
c.1574G>A |
p.Arg525Gln |
Missense |
8/20 |
- |
1 |
10-43607615-T-C |
c.1591T>C |
p.Cys531Arg |
Missense |
8/20 |
- |
3 |
10-43607621-G-A |
c.1597G>A |
p.Gly533Ser |
Missense |
8/20 |
- |
1 |
10-43607621-G-T |
c.1597G>T |
p.Gly533Cys |
Missense |
8/20 |
- |
23 |
10-43607648-G-A |
c.1624G>A |
p.Glu542Lys |
Missense |
8/20 |
- |
3 |
10-43607651-T-A |
c.1627T>A |
p.Trp543Arg |
Missense |
8/20 |
- |
2 |
10-43607660-GG-AA |
c.1636_1637delinsAA |
p.Gly546Lys |
Missense |
8/20 |
- |
1 |
10-43607666-G-A |
c.1642G>A |
p.Gly548Ser |
Missense |
8/20 |
- |
2 |
10-43607667-G-T |
c.1643G>T |
p.Gly548Val |
Missense |
8/20 |
- |
1 |
10-43607756-G-A |
c.1648+84G>A |
- |
IntronicSNV |
- |
8/19 |
5 |
10-43607760-GC-G |
c.1648+88del |
- |
IntronicDeletion |
- |
8/19 |
1 |
10-43608308-CC-C |
c.1656del |
p.Arg553Glyfs*85 |
Frameshift |
9/20 |
- |
1 |
10-43608330-C-T |
c.1678C>T |
p.Pro560Ser |
Missense |
9/20 |
- |
1 |
10-43608351-GAC-CAA |
c.1699_1701delinsCAA |
p.Asp567Gln |
Missense |
9/20 |
- |
1 |
10-43608351-G-A |
c.1699G>A |
p.Asp567Asn |
Missense |
9/20 |
- |
1 |
10-43608353-C-A |
c.1701C>A |
p.Asp567Glu |
Missense |
9/20 |
- |
1 |
10-43608354-GGC-TGG |
c.1702_1704delinsTGG |
p.Gly568Trp |
Missense |
9/20 |
- |
1 |
10-43608362-C-A |
c.1710C>A |
p.Cys570* |
Nonsense |
9/20 |
- |
2 |
10-43608385-T-G |
c.1733T>G |
p.Ile578Ser |
Missense |
9/20 |
- |
1 |
10-43608389-C-A |
c.1737C>A |
p.Asn579Lys |
Missense |
9/20 |
- |
1 |
10-43608389-C-G |
c.1737C>G |
p.Asn579Lys |
Missense |
9/20 |
- |
1 |
10-43608412-G-A |
c.1759+1G>A |
- |
IntronicSNV |
- |
9/19 |
1 |
10-43608807-G-T |
c.1760-197G>T |
- |
IntronicSNV |
- |
9/19 |
1 |
10-43608864-C-G |
c.1760-140C>G |
- |
IntronicSNV |
- |
9/19 |
1 |
10-43609007-GG-G |
c.1763del |
p.Gly588Alafs*50 |
Frameshift |
10/20 |
- |
2 |
10-43609019-G-A |
c.1775G>A |
p.Gly592Glu |
Missense |
10/20 |
- |
1 |
10-43609020-G-A |
c.1776G>A |
p.Gly592Gly |
Synonymous |
10/20 |
- |
1 |
10-43609021-G-T |
c.1777G>T |
p.Gly593* |
Nonsense |
10/20 |
- |
2 |
10-43609022-G-A |
c.1778G>A |
p.Gly593Glu |
Missense |
10/20 |
- |
2 |
10-43609027-G-A |
c.1783G>A |
p.Glu595Lys |
Missense |
10/20 |
- |
1 |
10-43609031-C-T |
c.1787C>T |
p.Pro596Leu |
Missense |
10/20 |
- |
1 |
10-43609043-G-T |
c.1799G>T |
p.Arg600Leu |
Missense |
10/20 |
- |
1 |
10-43609043-G-A |
c.1799G>A |
p.Arg600Gln |
Missense |
10/20 |
- |
5 |
10-43609051-A-C |
c.1807A>C |
p.Lys603Gln |
Missense |
10/20 |
- |
3 |
10-43609051-A-G |
c.1807A>G |
p.Lys603Glu |
Missense |
10/20 |
- |
3 |
10-43609058-G-A |
c.1814G>A |
p.Gly605Asp |
Missense |
10/20 |
- |
1 |
10-43609061-A-G |
c.1817A>G |
p.Tyr606Cys |
Missense |
10/20 |
- |
6 |
10-43609069-TG-AC |
c.1825_1826delinsAC |
p.Cys609Thr |
Missense |
10/20 |
- |
2 |
10-43609069-T-G |
c.1825T>G |
p.Cys609Gly |
Missense |
10/20 |
- |
3 |
10-43609069-T-C |
c.1825T>C |
p.Cys609Arg |
Missense |
10/20 |
- |
9 |
10-43609070-G-C |
c.1826G>C |
p.Cys609Ser |
Missense |
10/20 |
- |
11 |
10-43609070-G-T |
c.1826G>T |
p.Cys609Phe |
Missense |
10/20 |
- |
9 |
10-43609070-G-A |
c.1826G>A |
p.Cys609Tyr |
Missense |
10/20 |
- |
17 |
10-43609071-C-T |
c.1827C>T |
p.Cys609Cys |
Synonymous |
10/20 |
- |
1 |
10-43609071-C-G |
c.1827C>G |
p.Cys609Trp |
Missense |
10/20 |
- |
2 |
10-43609071-C-A |
c.1827C>A |
p.Cys609* |
Nonsense |
10/20 |
- |
1 |
10-43609076-G-C |
c.1832G>C |
p.Cys611Ser |
Missense |
10/20 |
- |
2 |
10-43609075-T-A |
c.1831T>A |
p.Cys611Ser |
Missense |
10/20 |
- |
2 |
10-43609075-T-C |
c.1831T>C |
p.Cys611Arg |
Missense |
10/20 |
- |
12 |
10-43609075-T-G |
c.1831T>G |
p.Cys611Gly |
Missense |
10/20 |
- |
2 |
10-43609076-G-T |
c.1832G>T |
p.Cys611Phe |
Missense |
10/20 |
- |
10 |
10-43609076-G-A |
c.1832G>A |
p.Cys611Tyr |
Missense |
10/20 |
- |
13 |
10-43609076-GC-AT |
c.1832_1833delinsAT |
p.Cys611Tyr |
Missense |
10/20 |
- |
2 |
10-43609077-C-G |
c.1833C>G |
p.Cys611Trp |
Missense |
10/20 |
- |
8 |
10-43609090-GGAG-G |
c.1846_1848del |
p.Glu616del |
InFrameDeletion |
10/20 |
- |
1 |
10-43609097-G-C |
c.1853G>C |
p.Cys618Ser |
Missense |
10/20 |
- |
29 |
10-43609096-T-A |
c.1852T>A |
p.Cys618Ser |
Missense |
10/20 |
- |
27 |
10-43609096-T-C |
c.1852T>C |
p.Cys618Arg |
Missense |
10/20 |
- |
31 |
10-43609096-T-G |
c.1852T>G |
p.Cys618Gly |
Missense |
10/20 |
- |
12 |
10-43609097-G-T |
c.1853G>T |
p.Cys618Phe |
Missense |
10/20 |
- |
19 |
10-43609097-G-A |
c.1853G>A |
p.Cys618Tyr |
Missense |
10/20 |
- |
15 |
10-43609098-C-A |
c.1854C>A |
p.Cys618* |
Nonsense |
10/20 |
- |
1 |
10-43609098-C-G |
c.1854C>G |
p.Cys618Trp |
Missense |
10/20 |
- |
1 |
10-43609102-TG-CT |
c.1858_1859delinsCT |
p.Cys620Leu |
Missense |
10/20 |
- |
2 |
10-43609102-TG-GC |
c.1858_1859delinsGC |
p.Cys620Ala |
Missense |
10/20 |
- |
1 |
10-43609102-T-C |
c.1858T>C |
p.Cys620Arg |
Missense |
10/20 |
- |
48 |
10-43609102-T-A |
c.1858T>A |
p.Cys620Ser |
Missense |
10/20 |
- |
10 |
10-43609102-T-G |
c.1858T>G |
p.Cys620Gly |
Missense |
10/20 |
- |
4 |
10-43609102-CTGC-C |
c.1858_1860del |
p.Cys620del |
InFrameDeletion |
10/20 |
- |
1 |
10-43609103-G-A |
c.1859G>A |
p.Cys620Tyr |
Missense |
10/20 |
- |
5 |
10-43609103-G-T |
c.1859G>T |
p.Cys620Phe |
Missense |
10/20 |
- |
16 |
10-43609104-C-G |
c.1860C>G |
p.Cys620Trp |
Missense |
10/20 |
- |
7 |
10-43609104-C-A |
c.1860C>A |
p.Cys620* |
Nonsense |
10/20 |
- |
1 |
10-43609110-C-T |
c.1866C>T |
p.Pro622Pro |
Synonymous |
10/20 |
- |
1 |
10-43609111-G-A |
c.1867G>A |
p.Glu623Lys |
Missense |
10/20 |
- |
2 |
10-43609124-G-A |
c.1879+1G>A |
- |
IntronicSNV |
- |
10/19 |
1 |
10-43609547-C-T |
c.1880-381C>T |
- |
IntronicSNV |
- |
10/19 |
1 |
10-43609912-C-T |
c.1880-16C>T |
- |
IntronicSNV |
- |
10/19 |
1 |
10-43609924-A-G |
c.1880-4A>G |
- |
IntronicSNV |
- |
10/19 |
2 |
10-43609928-A-G |
c.1880A>G |
p.Asp627Gly |
Missense |
11/20 |
- |
1 |
10-43609929-AT-A |
c.1881del |
p.Pro628Hisfs*10 |
Frameshift |
11/20 |
- |
1 |
10-43609930-C-T |
c.1882C>T |
p.Pro628Ser |
Missense |
11/20 |
- |
1 |
10-43609933-ACTGTGCGACGAGCTG-A |
c.1885_1899del |
p.Leu629_Leu633del |
InFrameDeletion |
11/20 |
- |
1 |
10-43609934-CTGTGCG-C |
c.1886_1891del |
p.Leu629_Asp631delinsHis |
MultiAAMissense |
11/20 |
- |
1 |
10-43609936-T-C |
c.1888T>C |
p.Cys630Arg |
Missense |
11/20 |
- |
21 |
10-43609936-T-G |
c.1888T>G |
p.Cys630Gly |
Missense |
11/20 |
- |
1 |
10-43609937-G-C |
c.1889G>C |
p.Cys630Ser |
Missense |
11/20 |
- |
3 |
10-43609936-T-A |
c.1888T>A |
p.Cys630Ser |
Missense |
11/20 |
- |
3 |
10-43609937-G-T |
c.1889G>T |
p.Cys630Phe |
Missense |
11/20 |
- |
1 |
10-43609937-G-A |
c.1889G>A |
p.Cys630Tyr |
Missense |
11/20 |
- |
4 |
10-43609938-C-T |
c.1890C>T |
p.Cys630Cys |
Synonymous |
11/20 |
- |
1 |
10-43609939-G-T |
c.1891G>T |
p.Asp631Tyr |
Missense |
11/20 |
- |
16 |
10-43609939-GA-AC |
c.1891_1892delinsAC |
p.Asp631Thr |
Missense |
11/20 |
- |
1 |
10-43609940-A-G |
c.1892A>G |
p.Asp631Gly |
Missense |
11/20 |
- |
1 |
10-43609940-A-T |
c.1892A>T |
p.Asp631Val |
Missense |
11/20 |
- |
2 |
10-43609941-C-T |
c.1893C>T |
p.Asp631Asp |
Synonymous |
11/20 |
- |
2 |
10-43609941-C-A |
c.1893C>A |
p.Asp631Glu |
Missense |
11/20 |
- |
2 |
10-43609941-C-G |
c.1893C>G |
p.Asp631Glu |
Missense |
11/20 |
- |
2 |
10-43609941-ACGAGCT-A |
c.1893_1898del |
p.Asp631_Leu633delinsGlu |
MultiAAMissense |
11/20 |
- |
1 |
10-43609942-CGAGCTGTGC-C |
c.1894_1902del |
p.Glu632_Cys634del |
InFrameDeletion |
11/20 |
- |
1 |
10-43609942-CGAGCTGTGCCG-C |
c.1894_1904del |
p.Glu632Hisfs*38 |
Frameshift |
11/20 |
- |
1 |
10-43609942-CGAGCTG-C |
c.1894_1899del |
p.Glu632_Leu633del |
InFrameDeletion |
11/20 |
- |
3 |
10-43609942-G-A |
c.1894G>A |
p.Glu632Lys |
Missense |
11/20 |
- |
3 |
10-43609943-GAGCTGTGCCGCACGGTGATCG-G |
c.1895_1915del |
p.Glu632_Ile638del |
InFrameDeletion |
11/20 |
- |
1 |
10-43609945-GCTG-G |
c.1897_1899del |
p.Leu633del |
InFrameDeletion |
11/20 |
- |
6 |
10-43609945-C-G |
c.1897C>G |
p.Leu633Val |
Missense |
11/20 |
- |
1 |
10-43609948-TG-GC |
c.1900_1901delinsGC |
p.Cys634Ala |
Missense |
11/20 |
- |
3 |
10-43609948-TGC-AAG |
c.1900_1902delinsAAG |
p.Cys634Lys |
Missense |
11/20 |
- |
2 |
10-43609948-T-C |
c.1900T>C |
p.Cys634Arg |
Missense |
11/20 |
- |
156 |
10-43609948-T-A |
c.1900T>A |
p.Cys634Ser |
Missense |
11/20 |
- |
19 |
10-43609948-GTGC-G |
c.1900_1902del |
p.Cys634del |
InFrameDeletion |
11/20 |
- |
1 |
10-43609948-TGCCGCACG-TGCCGCACGTGCCGCACG |
c.1900_1908dup |
p.Cys634_Thr636dup |
InFrameInsertion |
11/20 |
- |
2 |
10-43609949-G-C |
c.1901G>C |
p.Cys634Ser |
Missense |
11/20 |
- |
18 |
10-43609948-TG-CT |
c.1900_1901delinsCT |
p.Cys634Leu |
Missense |
11/20 |
- |
1 |
10-43609948-T-G |
c.1900T>G |
p.Cys634Gly |
Missense |
11/20 |
- |
20 |
10-43609949-G-T |
c.1901G>T |
p.Cys634Phe |
Missense |
11/20 |
- |
25 |
10-43609949-G-A |
c.1901G>A |
p.Cys634Tyr |
Missense |
11/20 |
- |
92 |
10-43609950-CC-GG |
c.1902_1903inv |
p.Cys634_Arg635delinsTrpGly |
MultiAAMissense |
11/20 |
- |
1 |
10-43609950-C-T |
c.1902C>T |
p.Cys634Cys |
Synonymous |
11/20 |
- |
1 |
10-43609950-C-G |
c.1902C>G |
p.Cys634Trp |
Missense |
11/20 |
- |
84 |
10-43609950-C-A |
c.1902C>A |
p.Cys634* |
Nonsense |
11/20 |
- |
1 |
10-43609951-C-CCTAAGC |
c.1903_1904insCTAAGC |
p.Cys634_Arg635insProLys |
InFrameInsertion |
11/20 |
- |
1 |
10-43609951-C-T |
c.1903C>T |
p.Arg635Cys |
Missense |
11/20 |
- |
1 |
10-43609951-C-G |
c.1903C>G |
p.Arg635Gly |
Missense |
11/20 |
- |
1 |
10-43609954-A-C |
c.1906A>C |
p.Thr636Pro |
Missense |
11/20 |
- |
4 |
10-43609954-ACGGTG-TGTAGGACA |
c.1906_1911delinsTGTAGGACA |
p.Thr636_Val637delinsCysArgThr |
MultiAAMissense |
11/20 |
- |
1 |
10-43609954-CACG-C |
c.1906_1908del |
p.Thr636del |
InFrameDeletion |
11/20 |
- |
1 |
10-43609955-C-T |
c.1907C>T |
p.Thr636Met |
Missense |
11/20 |
- |
3 |
10-43609956-G-GTGCCG |
c.1908_1909insTGCCG |
p.Val637Cysfs*3 |
Frameshift |
11/20 |
- |
1 |
10-43609960-GATCGCAG-G |
c.1912_1918del |
p.Ile638Profs*35 |
Frameshift |
11/20 |
- |
1 |
10-43609962-TC-T |
c.1914del |
p.Ile638Metfs*37 |
Frameshift |
11/20 |
- |
1 |
10-43609962-C-G |
c.1914C>G |
p.Ile638Met |
Missense |
11/20 |
- |
1 |
10-43609965-CAGC-C |
c.1917_1919del |
p.Ala641del |
InFrameDeletion |
11/20 |
- |
1 |
10-43609967-C-G |
c.1919C>G |
p.Ala640Gly |
Missense |
11/20 |
- |
5 |
10-43609968-C-A |
c.1920C>A |
p.Ala640Ala |
Synonymous |
11/20 |
- |
1 |
10-43609968-C-G |
c.1920C>G |
p.Ala640Ala |
Synonymous |
11/20 |
- |
1 |
10-43609968-C-T |
c.1920C>T |
p.Ala640Ala |
Synonymous |
11/20 |
- |
1 |
10-43609969-G-A |
c.1921G>A |
p.Ala641Thr |
Missense |
11/20 |
- |
2 |
10-43609969-G-T |
c.1921G>T |
p.Ala641Ser |
Missense |
11/20 |
- |
2 |
10-43609989-C-T |
c.1941C>T |
p.Ile647Ile |
Synonymous |
11/20 |
- |
2 |
10-43609990-G-A |
c.1942G>A |
p.Val648Ile |
Missense |
11/20 |
- |
5 |
10-43609994-C-T |
c.1946C>T |
p.Ser649Leu |
Missense |
11/20 |
- |
8 |
10-43609995-G-A |
c.1947G>A |
p.Ser649Ser |
Synonymous |
11/20 |
- |
3 |
10-43610001-G-C |
c.1953G>C |
p.Leu651Leu |
Synonymous |
11/20 |
- |
1 |
10-43610001-G-T |
c.1953G>T |
p.Leu651Leu |
Synonymous |
11/20 |
- |
1 |
10-43609999-C-T |
c.1951C>T |
p.Leu651Leu |
Synonymous |
11/20 |
- |
1 |
10-43610001-G-A |
c.1953G>A |
p.Leu651Leu |
Synonymous |
11/20 |
- |
1 |
10-43610005-T-A |
c.1957T>A |
p.Ser653Thr |
Missense |
11/20 |
- |
1 |
10-43610006-C-G |
c.1958C>G |
p.Ser653Cys |
Missense |
11/20 |
- |
1 |
10-43610039-C-A |
c.1991C>A |
p.Ala664Asp |
Missense |
11/20 |
- |
5 |
10-43610043-C-G |
c.1995C>G |
p.His665Gln |
Missense |
11/20 |
- |
1 |
10-43610043-C-A |
c.1995C>A |
p.His665Gln |
Missense |
11/20 |
- |
1 |
10-43610044-A-G |
c.1996A>G |
p.Lys666Glu |
Missense |
11/20 |
- |
16 |
10-43610044-A-C |
c.1996A>C |
p.Lys666Gln |
Missense |
11/20 |
- |
1 |
10-43610045-A-G |
c.1997A>G |
p.Lys666Arg |
Missense |
11/20 |
- |
1 |
10-43610045-A-T |
c.1997A>T |
p.Lys666Met |
Missense |
11/20 |
- |
2 |
10-43610046-G-T |
c.1998G>T |
p.Lys666Asn |
Missense |
11/20 |
- |
3 |
10-43610071-A-G |
c.2023A>G |
p.Thr675Ala |
Missense |
11/20 |
- |
1 |
10-43610071-AC-GA |
c.2023_2024delinsGA |
p.Thr675Asp |
Missense |
11/20 |
- |
1 |
10-43610085-C-T |
c.2037C>T |
p.Pro679Pro |
Synonymous |
11/20 |
- |
1 |
10-43610086-G-A |
c.2038G>A |
p.Ala680Thr |
Missense |
11/20 |
- |
1 |
10-43610089-C-G |
c.2041C>G |
p.Gln681Glu |
Missense |
11/20 |
- |
1 |
10-43610091-G-C |
c.2043G>C |
p.Gln681His |
Missense |
11/20 |
- |
1 |
10-43610101-G-A |
c.2053G>A |
p.Val685Ile |
Missense |
11/20 |
- |
1 |
10-43610105-G-A |
c.2057G>A |
p.Ser686Asn |
Missense |
11/20 |
- |
1 |
10-43610107-TAC-GAG |
c.2059_2061delinsGAG |
p.Tyr687Glu |
Missense |
11/20 |
- |
1 |
10-43610108-A-T |
c.2060A>T |
p.Tyr687Phe |
Missense |
11/20 |
- |
3 |
10-43610111-C-T |
c.2063C>T |
p.Ser688Phe |
Missense |
11/20 |
- |
1 |
10-43610119-G-C |
c.2071G>C |
p.Gly691Arg |
Missense |
11/20 |
- |
8 |
10-43610119-G-A |
c.2071G>A |
p.Gly691Ser |
Missense |
11/20 |
- |
89 |
10-43610119-G-T |
c.2071G>T |
p.Gly691Cys |
Missense |
11/20 |
- |
8 |
10-43610123-CC-AA |
c.2075_2076delinsAA |
p.Ala692Glu |
Missense |
11/20 |
- |
1 |
10-43610125-C-T |
c.2077C>T |
p.Arg693Cys |
Missense |
11/20 |
- |
1 |
10-43610126-G-A |
c.2078G>A |
p.Arg693His |
Missense |
11/20 |
- |
1 |
10-43610128-CG-GC |
c.2080_2081delinsGC |
p.Arg694Ala |
Missense |
11/20 |
- |
1 |
10-43610129-G-A |
c.2081G>A |
p.Arg694Gln |
Missense |
11/20 |
- |
2 |
10-43610134-T-G |
c.2086T>G |
p.Ser696Ala |
Missense |
11/20 |
- |
1 |
10-43610158-G-T |
c.2110G>T |
p.Val704Phe |
Missense |
11/20 |
- |
2 |
10-43610167-G-A |
c.2119G>A |
p.Asp707Asn |
Missense |
11/20 |
- |
5 |
10-43610169-T-A |
c.2121T>A |
p.Asp707Glu |
Missense |
11/20 |
- |
1 |
10-43610178-G-T |
c.2130G>T |
p.Lys710Asn |
Missense |
11/20 |
- |
2 |
10-43610178-G-C |
c.2130G>C |
p.Lys710Asn |
Missense |
11/20 |
- |
2 |
10-43610181-C-G |
c.2133C>G |
p.Ile711Met |
Missense |
11/20 |
- |
1 |
10-43610256-G-A |
c.2136+72G>A |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43610335-G-A |
c.2136+151G>A |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43610366-G-T |
c.2136+182G>T |
- |
IntronicSNV |
- |
11/19 |
2 |
10-43610366-G-A |
c.2136+182G>A |
- |
IntronicSNV |
- |
11/19 |
4 |
10-43610455-T-C |
c.2136+271T>C |
- |
IntronicSNV |
- |
11/19 |
2 |
10-43610456-G-A |
c.2136+272G>A |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43610558-C-T |
c.2136+374C>T |
- |
IntronicSNV |
- |
11/19 |
3 |
10-43610558-C-A |
c.2136+374C>A |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43610621-T-C |
c.2136+437T>C |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43610654-G-A |
c.2136+470G>A |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43610671-G-T |
c.2136+487G>T |
- |
IntronicSNV |
- |
11/19 |
3 |
10-43610693-G-T |
c.2136+509G>T |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43610772-C-G |
c.2136+588C>G |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43610786-T-C |
c.2136+602T>C |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43610897-C-T |
c.2136+713C>T |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43611238-T-C |
c.2137-794T>C |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43611288-A-G |
c.2137-744A>G |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43611541-T-G |
c.2137-491T>G |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43611648-C-T |
c.2137-384C>T |
- |
IntronicSNV |
- |
11/19 |
1 |
10-43611708-A-G |
c.2137-324A>G |
- |
IntronicSNV |
- |
11/19 |
2 |
10-43611865-T-C |
c.2137-167T>C |
- |
IntronicSNV |
- |
11/19 |
2 |
10-43612038-C-T |
c.2143C>T |
p.Pro715Ser |
Missense |
12/20 |
- |
1 |
10-43612043-G-T |
c.2148G>T |
p.Lys716Asn |
Missense |
12/20 |
- |
1 |
10-43612043-G-C |
c.2148G>C |
p.Lys716Asn |
Missense |
12/20 |
- |
1 |
10-43612044-TG-GC |
c.2149_2150delinsGC |
p.Trp717Ala |
Missense |
12/20 |
- |
1 |
10-43612045-GG-TT |
c.2150_2151delinsTT |
p.Trp717Phe |
Missense |
12/20 |
- |
1 |
10-43612083-C-G |
c.2188C>G |
p.Leu730Val |
Missense |
12/20 |
- |
2 |
10-43612083-C-A |
c.2188C>A |
p.Leu730Ile |
Missense |
12/20 |
- |
2 |
10-43612087-GGAG-G |
c.2192_2194del |
p.Gly731del |
InFrameDeletion |
12/20 |
- |
1 |
10-43612087-G-A |
c.2192G>A |
p.Gly731Glu |
Missense |
12/20 |
- |
1 |
10-43612089-G-A |
c.2194G>A |
p.Glu732Lys |
Missense |
12/20 |
- |
1 |
10-43612096-A-C |
c.2201A>C |
p.Glu734Ala |
Missense |
12/20 |
- |
1 |
10-43612108-T-C |
c.2213T>C |
p.Val738Ala |
Missense |
12/20 |
- |
1 |
10-43612117-C-G |
c.2222C>G |
p.Ala741Gly |
Missense |
12/20 |
- |
1 |
10-43612120-C-T |
c.2225C>T |
p.Thr742Met |
Missense |
12/20 |
- |
1 |
10-43612141-G-A |
c.2246G>A |
p.Arg749Lys |
Missense |
12/20 |
- |
1 |
10-43612143-G-A |
c.2248G>A |
p.Ala750Thr |
Missense |
12/20 |
- |
1 |
10-43612143-G-C |
c.2248G>C |
p.Ala750Pro |
Missense |
12/20 |
- |
2 |
10-43612144-C-G |
c.2249C>G |
p.Ala750Gly |
Missense |
12/20 |
- |
1 |
10-43612144-GCAG-G |
c.2249_2251del |
p.Ala750del |
InFrameDeletion |
12/20 |
- |
1 |
10-43612150-A-G |
c.2255A>G |
p.Tyr752Cys |
Missense |
12/20 |
- |
1 |
10-43612162-C-A |
c.2267C>A |
p.Ala756Asp |
Missense |
12/20 |
- |
1 |
10-43612162-C-T |
c.2267C>T |
p.Ala756Val |
Missense |
12/20 |
- |
1 |
10-43612167-AA-GC |
c.2272_2273delinsGC |
p.Lys758Ala |
Missense |
12/20 |
- |
1 |
10-43612168-A-G |
c.2273A>G |
p.Lys758Arg |
Missense |
12/20 |
- |
5 |
10-43612168-A-T |
c.2273A>T |
p.Lys758Met |
Missense |
12/20 |
- |
12 |
10-43612225-G-C |
c.2284+46G>C |
- |
IntronicSNV |
- |
12/19 |
1 |
10-43612226-C-G |
c.2284+47C>G |
- |
IntronicSNV |
- |
12/19 |
1 |
10-43612226-C-A |
c.2284+47C>A |
- |
IntronicSNV |
- |
12/19 |
1 |
10-43612226-C-T |
c.2284+47C>T |
- |
IntronicSNV |
- |
12/19 |
3 |
10-43612609-C-T |
c.2284+430C>T |
- |
IntronicSNV |
- |
12/19 |
7 |
10-43613072-C-T |
c.2285-749C>T |
- |
IntronicSNV |
- |
12/19 |
1 |
10-43613108-G-A |
c.2285-713G>A |
- |
IntronicSNV |
- |
12/19 |
1 |
10-43613422-C-G |
c.2285-399C>G |
- |
IntronicSNV |
- |
12/19 |
1 |
10-43613825-C-T |
c.2289C>T |
p.Asn763Asn |
Synonymous |
13/20 |
- |
1 |
10-43613829-T-C |
c.2293T>C |
p.Ser765Pro |
Missense |
13/20 |
- |
2 |
10-43613833-C-T |
c.2297C>T |
p.Pro766Leu |
Missense |
13/20 |
- |
1 |
10-43613834-G-T |
c.2298G>T |
p.Pro766Pro |
Synonymous |
13/20 |
- |
1 |
10-43613837-T-A |
c.2301T>A |
p.Ser767Arg |
Missense |
13/20 |
- |
2 |
10-43613837-T-G |
c.2301T>G |
p.Ser767Arg |
Missense |
13/20 |
- |
2 |
10-43613835-A-C |
c.2299A>C |
p.Ser767Arg |
Missense |
13/20 |
- |
2 |
10-43613838-G-C |
c.2302G>C |
p.Glu768Gln |
Missense |
13/20 |
- |
1 |
10-43613838-GAG-AAC |
c.2302_2304delinsAAC |
p.Glu768Asn |
Missense |
13/20 |
- |
2 |
10-43613840-G-T |
c.2304G>T |
p.Glu768Asp |
Missense |
13/20 |
- |
29 |
10-43613840-G-A |
c.2304G>A |
p.Glu768Glu |
Synonymous |
13/20 |
- |
1 |
10-43613840-G-C |
c.2304G>C |
p.Glu768Asp |
Missense |
13/20 |
- |
29 |
10-43613841-CT-GC |
c.2305_2306delinsGC |
p.Leu769Ala |
Missense |
13/20 |
- |
1 |
10-43613843-G-T |
c.2307G>T |
p.Leu769Leu |
Synonymous |
13/20 |
- |
59 |
10-43613843-G-C |
c.2307G>C |
p.Leu769Leu |
Synonymous |
13/20 |
- |
46 |
10-43613843-G-A |
c.2307G>A |
p.Leu769Leu |
Synonymous |
13/20 |
- |
56 |
10-43613843-GC-TT |
c.2307_2308delinsTT |
p.Arg770* |
Missense |
13/20 |
- |
1 |
10-43613841-C-T |
c.2305C>T |
p.Leu769Leu |
Synonymous |
13/20 |
- |
46 |
10-43613844-CG-GC |
c.2308_2309delinsGC |
p.Arg770Ala |
Missense |
13/20 |
- |
1 |
10-43613844-C-T |
c.2308C>T |
p.Arg770* |
Nonsense |
13/20 |
- |
5 |
10-43613845-G-A |
c.2309G>A |
p.Arg770Gln |
Missense |
13/20 |
- |
1 |
10-43613850-CT-GC |
c.2314_2315delinsGC |
p.Leu772Ala |
Missense |
13/20 |
- |
1 |
10-43613853-CT-GC |
c.2317_2318delinsGC |
p.Leu773Ala |
Missense |
13/20 |
- |
1 |
10-43613864-C-G |
c.2328C>G |
p.Phe776Leu |
Missense |
13/20 |
- |
1 |
10-43613862-T-C |
c.2326T>C |
p.Phe776Leu |
Missense |
13/20 |
- |
1 |
10-43613864-C-A |
c.2328C>A |
p.Phe776Leu |
Missense |
13/20 |
- |
1 |
10-43613866-A-G |
c.2330A>G |
p.Asn777Ser |
Missense |
13/20 |
- |
4 |
10-43613868-G-A |
c.2332G>A |
p.Val778Ile |
Missense |
13/20 |
- |
9 |
10-43613869-T-A |
c.2333T>A |
p.Val778Asp |
Missense |
13/20 |
- |
1 |
10-43613869-GT-G |
c.2333del |
p.Val778Alafs*2 |
Frameshift |
13/20 |
- |
3 |
10-43613878-A-G |
c.2342A>G |
p.Gln781Arg |
Missense |
13/20 |
- |
5 |
10-43613888-C-T |
c.2352C>T |
p.His784His |
Synonymous |
13/20 |
- |
1 |
10-43613899-T-A |
c.2363T>A |
p.Ile788Asn |
Missense |
13/20 |
- |
3 |
10-43613900-C-T |
c.2364C>T |
p.Ile788Ile |
Synonymous |
13/20 |
- |
1 |
10-43613906-G-T |
c.2370G>T |
p.Leu790Phe |
Missense |
13/20 |
- |
38 |
10-43613906-G-C |
c.2370G>C |
p.Leu790Phe |
Missense |
13/20 |
- |
35 |
10-43613907-T-A |
c.2371T>A |
p.Tyr791Asn |
Missense |
13/20 |
- |
5 |
10-43613908-A-G |
c.2372A>G |
p.Tyr791Cys |
Missense |
13/20 |
- |
1 |
10-43613908-A-T |
c.2372A>T |
p.Tyr791Phe |
Missense |
13/20 |
- |
62 |
10-43613925-G-A |
c.2389G>A |
p.Asp797Asn |
Missense |
13/20 |
- |
1 |
10-43613926-A-T |
c.2390A>T |
p.Asp797Val |
Missense |
13/20 |
- |
1 |
10-43613960-C-T |
c.2392+32C>T |
- |
IntronicSNV |
- |
13/19 |
1 |
10-43614087-G-A |
c.2392+159G>A |
- |
IntronicSNV |
- |
13/19 |
2 |
10-43614230-G-A |
c.2392+302G>A |
- |
IntronicSNV |
- |
13/19 |
2 |
10-43614320-G-A |
c.2392+392G>A |
- |
IntronicSNV |
- |
13/19 |
1 |
10-43614442-G-A |
c.2392+514G>A |
- |
IntronicSNV |
- |
13/19 |
2 |
10-43614460-G-A |
c.2393-519G>A |
- |
IntronicSNV |
- |
13/19 |
1 |
10-43614885-C-T |
c.2393-94C>T |
- |
IntronicSNV |
- |
13/19 |
2 |
10-43614885-C-G |
c.2393-94C>G |
- |
IntronicSNV |
- |
13/19 |
1 |
10-43614996-G-C |
c.2410G>C |
p.Val804Leu |
Missense |
14/20 |
- |
62 |
10-43614996-G-T |
c.2410G>T |
p.Val804Leu |
Missense |
14/20 |
- |
61 |
10-43614996-GT-AG |
c.2410_2411delinsAG |
p.Val804Arg |
Missense |
14/20 |
- |
1 |
10-43614996-G-A |
c.2410G>A |
p.Val804Met |
Missense |
14/20 |
- |
130 |
10-43614997-T-C |
c.2411T>C |
p.Val804Ala |
Missense |
14/20 |
- |
1 |
10-43614997-T-G |
c.2411T>G |
p.Val804Gly |
Missense |
14/20 |
- |
2 |
10-43614999-G-A |
c.2413G>A |
p.Glu805Lys |
Missense |
14/20 |
- |
11 |
10-43615002-T-A |
c.2416T>A |
p.Tyr806Asn |
Missense |
14/20 |
- |
1 |
10-43615003-A-G |
c.2417A>G |
p.Tyr806Cys |
Missense |
14/20 |
- |
28 |
10-43615004-C-T |
c.2418C>T |
p.Tyr806Tyr |
Synonymous |
14/20 |
- |
1 |
10-43615006-C-T |
c.2420C>T |
p.Ala807Val |
Missense |
14/20 |
- |
1 |
10-43615008-A-G |
c.2422A>G |
p.Lys808Glu |
Missense |
14/20 |
- |
1 |
10-43615014-G-A |
c.2428G>A |
p.Gly810Ser |
Missense |
14/20 |
- |
2 |
10-43615015-G-C |
c.2429G>C |
p.Gly810Ala |
Missense |
14/20 |
- |
5 |
10-43615018-C-T |
c.2432C>T |
p.Ser811Phe |
Missense |
14/20 |
- |
1 |
10-43615023-C-T |
c.2437C>T |
p.Arg813Trp |
Missense |
14/20 |
- |
2 |
10-43615024-G-A |
c.2438G>A |
p.Arg813Gln |
Missense |
14/20 |
- |
1 |
10-43615035-C-T |
c.2449C>T |
p.Arg817Cys |
Missense |
14/20 |
- |
1 |
10-43615038-G-A |
c.2452G>A |
p.Glu818Lys |
Missense |
14/20 |
- |
1 |
10-43615045-G-T |
c.2459G>T |
p.Arg820Leu |
Missense |
14/20 |
- |
1 |
10-43615045-G-A |
c.2459G>A |
p.Arg820His |
Missense |
14/20 |
- |
2 |
10-43615047-A-C |
c.2461A>C |
p.Lys821Gln |
Missense |
14/20 |
- |
1 |
10-43615047-A-G |
c.2461A>G |
p.Lys821Glu |
Missense |
14/20 |
- |
2 |
10-43615063-A-C |
c.2477A>C |
p.Tyr826Ser |
Missense |
14/20 |
- |
1 |
10-43615063-A-T |
c.2477A>T |
p.Tyr826Phe |
Missense |
14/20 |
- |
1 |
10-43615070-C-T |
c.2484C>T |
p.Gly828Gly |
Synonymous |
14/20 |
- |
1 |
10-43615078-G-T |
c.2492G>T |
p.Gly831Val |
Missense |
14/20 |
- |
1 |
10-43615083-C-T |
c.2497C>T |
p.Arg833Cys |
Missense |
14/20 |
- |
5 |
10-43615094-C-T |
c.2508C>T |
p.Ser836Ser |
Synonymous |
14/20 |
- |
39 |
10-43615096-C-A |
c.2510C>A |
p.Ser837Tyr |
Missense |
14/20 |
- |
1 |
10-43615096-C-T |
c.2510C>T |
p.Ser837Phe |
Missense |
14/20 |
- |
1 |
10-43615104-CA-GC |
c.2518_2519delinsGC |
p.His840Ala |
Missense |
14/20 |
- |
1 |
10-43615108-C-T |
c.2522C>T |
p.Pro841Leu |
Missense |
14/20 |
- |
1 |
10-43615109-G-A |
c.2523G>A |
p.Pro841Pro |
Synonymous |
14/20 |
- |
1 |
10-43615109-G-T |
c.2523G>T |
p.Pro841Pro |
Synonymous |
14/20 |
- |
1 |
10-43615109-G-C |
c.2523G>C |
p.Pro841Pro |
Synonymous |
14/20 |
- |
1 |
10-43615111-A-T |
c.2525A>T |
p.Asp842Val |
Missense |
14/20 |
- |
8 |
10-43615113-G-A |
c.2527G>A |
p.Glu843Lys |
Missense |
14/20 |
- |
1 |
10-43615116-C-T |
c.2530C>T |
p.Arg844Trp |
Missense |
14/20 |
- |
2 |
10-43615117-G-A |
c.2531G>A |
p.Arg844Gln |
Missense |
14/20 |
- |
6 |
10-43615117-G-T |
c.2531G>T |
p.Arg844Leu |
Missense |
14/20 |
- |
6 |
10-43615128-A-G |
c.2542A>G |
p.Met848Val |
Missense |
14/20 |
- |
1 |
10-43615129-T-C |
c.2543T>C |
p.Met848Thr |
Missense |
14/20 |
- |
1 |
10-43615136-C-G |
c.2550C>G |
p.Asp850Glu |
Missense |
14/20 |
- |
1 |
10-43615140-A-G |
c.2554A>G |
p.Ile852Val |
Missense |
14/20 |
- |
1 |
10-43615142-C-G |
c.2556C>G |
p.Ile852Met |
Missense |
14/20 |
- |
8 |
10-43615164-C-T |
c.2578C>T |
p.Gln860* |
Nonsense |
14/20 |
- |
4 |
10-43615176-T-C |
c.2590T>C |
p.Tyr864His |
Missense |
14/20 |
- |
1 |
10-43615329-A-G |
c.2607+136A>G |
- |
IntronicSNV |
- |
14/19 |
2 |
10-43615382-C-T |
c.2608-147C>T |
- |
IntronicSNV |
- |
14/19 |
2 |
10-43615405-G-A |
c.2608-124G>A |
- |
IntronicSNV |
- |
14/19 |
1 |
10-43615505-G-A |
c.2608-24G>A |
- |
IntronicSNV |
- |
14/19 |
8 |
10-43615532-G-A |
c.2611G>A |
p.Val871Ile |
Missense |
15/20 |
- |
3 |
10-43615548-C-T |
c.2627C>T |
p.Ala876Val |
Missense |
15/20 |
- |
1 |
10-43615562-C-G |
c.2641C>G |
p.Leu881Val |
Missense |
15/20 |
- |
1 |
10-43615567-A-C |
c.2646A>C |
p.Val882Val |
Synonymous |
15/20 |
- |
1 |
10-43615567-A-T |
c.2646A>T |
p.Val882Val |
Synonymous |
15/20 |
- |
1 |
10-43615567-A-G |
c.2646A>G |
p.Val882Val |
Synonymous |
15/20 |
- |
1 |
10-43615567-AGC-TTT |
c.2646_2648delinsTTT |
p.Ala883Phe |
Missense |
15/20 |
- |
1 |
10-43615568-GC-TT |
c.2647_2648delinsTT |
p.Ala883Phe |
Missense |
15/20 |
- |
69 |
10-43615568-G-T |
c.2647G>T |
p.Ala883Ser |
Missense |
15/20 |
- |
1 |
10-43615568-G-A |
c.2647G>A |
p.Ala883Thr |
Missense |
15/20 |
- |
4 |
10-43615569-C-T |
c.2648C>T |
p.Ala883Val |
Missense |
15/20 |
- |
2 |
10-43615572-A-T |
c.2651A>T |
p.Glu884Val |
Missense |
15/20 |
- |
5 |
10-43615573-G-C |
c.2652G>C |
p.Glu884Asp |
Missense |
15/20 |
- |
1 |
10-43615577-C-T |
c.2656C>T |
p.Arg886Trp |
Missense |
15/20 |
- |
1 |
10-43615578-G-A |
c.2657G>A |
p.Arg886Gln |
Missense |
15/20 |
- |
1 |
10-43615581-A-G |
c.2660A>G |
p.Lys887Arg |
Missense |
15/20 |
- |
1 |
10-43615592-T-G |
c.2671T>G |
p.Ser891Ala |
Missense |
15/20 |
- |
40 |
10-43615593-C-T |
c.2672C>T |
p.Ser891Leu |
Missense |
15/20 |
- |
1 |
10-43615594-G-A |
c.2673G>A |
p.Ser891Ser |
Synonymous |
15/20 |
- |
1 |
10-43615600-C-T |
c.2679C>T |
p.Phe893Phe |
Synonymous |
15/20 |
- |
1 |
10-43615601-G-A |
c.2680G>A |
p.Gly894Ser |
Missense |
15/20 |
- |
2 |
10-43615601-GG-AC |
c.2680_2681delinsAC |
p.Gly894Thr |
Missense |
15/20 |
- |
1 |
10-43615612-A-C |
c.2691A>C |
p.Arg897Arg |
Synonymous |
15/20 |
- |
1 |
10-43615612-A-G |
c.2691A>G |
p.Arg897Arg |
Synonymous |
15/20 |
- |
1 |
10-43615610-C-A |
c.2689C>A |
p.Arg897Arg |
Synonymous |
15/20 |
- |
1 |
10-43615612-A-T |
c.2691A>T |
p.Arg897Arg |
Synonymous |
15/20 |
- |
1 |
10-43615611-G-A |
c.2690G>A |
p.Arg897Gln |
Missense |
15/20 |
- |
2 |
10-43615613-G-T |
c.2692G>T |
p.Asp898Tyr |
Missense |
15/20 |
- |
1 |
10-43615615-ATGTTTATGAAGA-A |
c.2694_2705del |
p.Asp898_Glu901del |
InFrameDeletion |
15/20 |
- |
5 |
10-43615620-A-T |
c.2699A>T |
p.Tyr900Phe |
Missense |
15/20 |
- |
3 |
10-43615621-T-G |
c.2700T>G |
p.Tyr900* |
Nonsense |
15/20 |
- |
2 |
10-43615621-T-A |
c.2700T>A |
p.Tyr900* |
Nonsense |
15/20 |
- |
2 |
10-43615622-G-A |
c.2701G>A |
p.Glu901Lys |
Missense |
15/20 |
- |
1 |
10-43615624-AAGA-A |
c.2703_2705del |
p.Glu902del |
InFrameDeletion |
15/20 |
- |
3 |
10-43615627-AGGA-A |
c.2706_2708del |
p.Glu902del |
InFrameDeletion |
15/20 |
- |
1 |
10-43615631-T-C |
c.2710T>C |
p.Ser904Pro |
Missense |
15/20 |
- |
1 |
10-43615632-C-A |
c.2711C>A |
p.Ser904Tyr |
Missense |
15/20 |
- |
1 |
10-43615632-C-T |
c.2711C>T |
p.Ser904Phe |
Missense |
15/20 |
- |
5 |
10-43615632-CCT-TGG |
c.2711_2713delinsTGG |
p.Ser904_Tyr905delinsLeuAsp |
MultiAAMissense |
15/20 |
- |
1 |
10-43615632-CC-TG |
c.2711_2712delinsTG |
p.Ser904Leu |
Missense |
15/20 |
- |
1 |
10-43615632-C-G |
c.2711C>G |
p.Ser904Cys |
Missense |
15/20 |
- |
13 |
10-43615633-CT-GG |
c.2712_2713delinsGG |
p.Tyr905Asp |
Missense |
15/20 |
- |
1 |
10-43615633-C-T |
c.2712C>T |
p.Ser904Ser |
Synonymous |
15/20 |
- |
36 |
10-43615633-C-A |
c.2712C>A |
p.Ser904Ser |
Synonymous |
15/20 |
- |
38 |
10-43615633-C-G |
c.2712C>G |
p.Ser904Ser |
Synonymous |
15/20 |
- |
40 |
10-43615635-A-T |
c.2714A>T |
p.Tyr905Phe |
Missense |
15/20 |
- |
7 |
10-43615640-A-G |
c.2719A>G |
p.Lys907Glu |
Missense |
15/20 |
- |
2 |
10-43615646-AG-GA |
c.2725_2726delinsGA |
p.Ser909Asp |
Missense |
15/20 |
- |
1 |
10-43615646-AG-GC |
c.2725_2726delinsGC |
p.Ser909Ala |
Missense |
15/20 |
- |
2 |
10-43615880-T-C |
c.2730+229T>C |
- |
IntronicSNV |
- |
15/19 |
2 |
10-43615908-C-T |
c.2730+257C>T |
- |
IntronicSNV |
- |
15/19 |
2 |
10-43615973-C-T |
c.2730+322C>T |
- |
IntronicSNV |
- |
15/19 |
2 |
10-43616082-G-A |
c.2730+431G>A |
- |
IntronicSNV |
- |
15/19 |
1 |
10-43616181-A-G |
c.2730+530A>G |
- |
IntronicSNV |
- |
15/19 |
2 |
10-43616325-A-G |
c.2730+674A>G |
- |
IntronicSNV |
- |
15/19 |
2 |
10-43616751-C-A |
c.2731-643C>A |
- |
IntronicSNV |
- |
15/19 |
1 |
10-43617018-A-G |
c.2731-376A>G |
- |
IntronicSNV |
- |
15/19 |
1 |
10-43617104-A-G |
c.2731-290A>G |
- |
IntronicSNV |
- |
15/19 |
1 |
10-43617162-G-A |
c.2731-232G>A |
- |
IntronicSNV |
- |
15/19 |
1 |
10-43617167-C-G |
c.2731-227C>G |
- |
IntronicSNV |
- |
15/19 |
1 |
10-43617397-CG-GC |
c.2734_2735delinsGC |
p.Arg912Ala |
Missense |
16/20 |
- |
1 |
10-43617397-C-T |
c.2734C>T |
p.Arg912Trp |
Missense |
16/20 |
- |
1 |
10-43617398-G-A |
c.2735G>A |
p.Arg912Gln |
Missense |
16/20 |
- |
3 |
10-43617398-G-C |
c.2735G>C |
p.Arg912Pro |
Missense |
16/20 |
- |
13 |
10-43617400-AT-GC |
c.2737_2738delinsGC |
p.Ile913Ala |
Missense |
16/20 |
- |
1 |
10-43617415-A-G |
c.2752A>G |
p.Met918Val |
Missense |
16/20 |
- |
3 |
10-43617415-A-T |
c.2752A>T |
p.Met918Leu |
Missense |
16/20 |
- |
1 |
10-43617415-ATG-TAT |
c.2752_2754delinsTAT |
p.Met918Tyr |
Missense |
16/20 |
- |
1 |
10-43617415-A-C |
c.2752A>C |
p.Met918Leu |
Missense |
16/20 |
- |
1 |
10-43617416-T-G |
c.2753T>G |
p.Met918Arg |
Missense |
16/20 |
- |
2 |
10-43617416-T-C |
c.2753T>C |
p.Met918Thr |
Missense |
16/20 |
- |
335 |
10-43617419-C-T |
c.2756C>T |
p.Ala919Val |
Missense |
16/20 |
- |
2 |
10-43617424-G-A |
c.2761G>A |
p.Glu921Lys |
Missense |
16/20 |
- |
4 |
10-43617424-G-T |
c.2761G>T |
p.Glu921* |
Nonsense |
16/20 |
- |
2 |
10-43617428-C-A |
c.2765C>A |
p.Ser922Tyr |
Missense |
16/20 |
- |
1 |
10-43617430-C-T |
c.2767C>T |
p.Leu923Phe |
Missense |
16/20 |
- |
1 |
10-43617435-T-TT |
c.2772dup |
p.Asp925* |
Nonsense |
16/20 |
- |
1 |
10-43617437-A-C |
c.2774A>C |
p.Asp925Ala |
Missense |
16/20 |
- |
1 |
10-43617518-A-T |
c.2801+54A>T |
- |
IntronicSNV |
- |
16/19 |
2 |
10-43617707-G-C |
c.2801+243G>C |
- |
IntronicSNV |
- |
16/19 |
1 |
10-43618395-C-A |
c.2802-724C>A |
- |
IntronicSNV |
- |
16/19 |
1 |
10-43619117-A-G |
c.2802-2A>G |
- |
IntronicSNV |
- |
16/19 |
2 |
10-43619136-T-A |
c.2819T>A |
p.Leu940Gln |
Missense |
17/20 |
- |
1 |
10-43619142-G-A |
c.2825G>A |
p.Trp942* |
Nonsense |
17/20 |
- |
1 |
10-43619143-G-A |
c.2826G>A |
p.Trp942* |
Nonsense |
17/20 |
- |
1 |
10-43619149-C-G |
c.2832C>G |
p.Ile944Met |
Missense |
17/20 |
- |
2 |
10-43619162-G-C |
c.2845G>C |
p.Gly949Arg |
Missense |
17/20 |
- |
1 |
10-43619162-G-A |
c.2845G>A |
p.Gly949Arg |
Missense |
17/20 |
- |
1 |
10-43619174-CCT-AAG |
c.2857_2859delinsAAG |
p.Pro953Lys |
Missense |
17/20 |
- |
1 |
10-43619175-C-T |
c.2858C>T |
p.Pro953Leu |
Missense |
17/20 |
- |
2 |
10-43619176-T-A |
c.2859T>A |
p.Pro953Pro |
Synonymous |
17/20 |
- |
1 |
10-43619179-G-T |
c.2862G>T |
p.Gly954Gly |
Synonymous |
17/20 |
- |
1 |
10-43619179-G-C |
c.2862G>C |
p.Gly954Gly |
Synonymous |
17/20 |
- |
1 |
10-43619179-G-A |
c.2862G>A |
p.Gly954Gly |
Synonymous |
17/20 |
- |
1 |
10-43619193-G-A |
c.2876G>A |
p.Arg959Gln |
Missense |
17/20 |
- |
1 |
10-43619200-C-A |
c.2883C>A |
p.Phe961Leu |
Missense |
17/20 |
- |
1 |
10-43619200-C-G |
c.2883C>G |
p.Phe961Leu |
Missense |
17/20 |
- |
1 |
10-43619198-T-C |
c.2881T>C |
p.Phe961Leu |
Missense |
17/20 |
- |
1 |
10-43619207-C-G |
c.2890C>G |
p.Leu964Val |
Missense |
17/20 |
- |
1 |
10-43619231-A-G |
c.2914A>G |
p.Arg972Gly |
Missense |
17/20 |
- |
2 |
10-43619235-C-T |
c.2918C>T |
p.Pro973Leu |
Missense |
17/20 |
- |
1 |
10-43619256-T-C |
c.2939T>C |
p.Met980Thr |
Missense |
17/20 |
- |
3 |
10-43620333-A-T |
c.2942A>T |
p.Tyr981Phe |
Missense |
18/20 |
- |
12 |
10-43620334-C-G |
c.2943C>G |
p.Tyr981* |
Nonsense |
18/20 |
- |
2 |
10-43620335-C-T |
c.2944C>T |
p.Arg982Cys |
Missense |
18/20 |
- |
14 |
10-43620366-C-T |
c.2975C>T |
p.Pro992Leu |
Missense |
18/20 |
- |
3 |
10-43620385-T-A |
c.2994T>A |
p.Phe998Leu |
Missense |
18/20 |
- |
1 |
10-43620385-T-G |
c.2994T>G |
p.Phe998Leu |
Missense |
18/20 |
- |
1 |
10-43620383-T-G |
c.2992T>G |
p.Phe998Val |
Missense |
18/20 |
- |
1 |
10-43620383-T-C |
c.2992T>C |
p.Phe998Leu |
Missense |
18/20 |
- |
1 |
10-43620389-G-A |
c.2998G>A |
p.Asp1000Asn |
Missense |
18/20 |
- |
1 |
10-43620417-T-C |
c.3026T>C |
p.Met1009Thr |
Missense |
18/20 |
- |
2 |
10-43620422-A-G |
c.3031A>G |
p.Lys1011Glu |
Missense |
18/20 |
- |
1 |
10-43620551-G-A |
c.3039+121G>A |
- |
IntronicSNV |
- |
18/19 |
2 |
10-43621323-C-T |
c.3040-700C>T |
- |
IntronicSNV |
- |
18/19 |
1 |
10-43621323-C-G |
c.3040-700C>G |
- |
IntronicSNV |
- |
18/19 |
1 |
10-43622027-A-T |
c.3044A>T |
p.Tyr1015Phe |
Missense |
19/20 |
- |
16 |
10-43622028-C-A |
c.3045C>A |
p.Tyr1015* |
Nonsense |
19/20 |
- |
1 |
10-43622028-C-G |
c.3045C>G |
p.Tyr1015* |
Nonsense |
19/20 |
- |
1 |
10-43622030-T-C |
c.3047T>C |
p.Leu1016Ser |
Missense |
19/20 |
- |
1 |
10-43622032-G-A |
c.3049G>A |
p.Asp1017Asn |
Missense |
19/20 |
- |
1 |
10-43622039-C-T |
c.3056C>T |
p.Ala1019Val |
Missense |
19/20 |
- |
1 |
10-43622054-C-T |
c.3071C>T |
p.Ser1024Phe |
Missense |
19/20 |
- |
1 |
10-43622062-C-G |
c.3079C>G |
p.Leu1027Val |
Missense |
19/20 |
- |
1 |
10-43622069-A-T |
c.3086A>T |
p.Tyr1029Phe |
Missense |
19/20 |
- |
1 |
10-43622095-A-G |
c.3112A>G |
p.Thr1038Ala |
Missense |
19/20 |
- |
2 |
10-43622099-C-T |
c.3116C>T |
p.Pro1039Leu |
Missense |
19/20 |
- |
2 |
10-43622122-C-T |
c.3139C>T |
p.Pro1047Ser |
Missense |
19/20 |
- |
1 |
10-43622125-CC-C |
c.3142del |
p.Leu1048Serfs*61 |
Frameshift |
19/20 |
- |
1 |
10-43622125-C-G |
c.3142C>G |
p.Leu1048Val |
Missense |
19/20 |
- |
1 |
10-43622134-G-A |
c.3151G>A |
p.Ala1051Thr |
Missense |
19/20 |
- |
1 |
10-43622165-T-C |
c.3182T>C |
p.Leu1061Pro |
Missense |
19/20 |
- |
1 |
10-43622167-TA-CC |
c.3184_3185delinsCC |
p.Tyr1062Pro |
Missense |
19/20 |
- |
1 |
10-43622168-A-T |
c.3185A>T |
p.Tyr1062Phe |
Missense |
19/20 |
- |
35 |
10-43622168-A-G |
c.3185A>G |
p.Tyr1062Cys |
Missense |
19/20 |
- |
4 |
10-43622217-T-C |
c.3187+47T>C |
- |
IntronicSNV |
- |
19/19 |
4 |
10-43622933-T-A |
c.3188-627T>A |
- |
IntronicSNV |
- |
19/19 |
3 |
10-43622933-T-C |
c.3188-627T>C |
- |
IntronicSNV |
- |
19/19 |
3 |
10-43623563-T-C |
c.3191T>C |
p.Met1064Thr |
Missense |
20/20 |
- |
4 |
10-43623563-T-G |
c.3191T>G |
p.Met1064Arg |
Missense |
20/20 |
- |
1 |
10-43623565-TC-AT |
c.3193_3194delinsAT |
p.Ser1065Ile |
Missense |
20/20 |
- |
1 |
10-43623580-C-T |
c.3208C>T |
p.Pro1070Ser |
Missense |
20/20 |
- |
1 |
10-43623603-C-G |
c.3231C>G |
p.Leu1077Leu |
Synonymous |
20/20 |
- |
1 |
10-43623603-C-T |
c.3231C>T |
p.Leu1077Leu |
Synonymous |
20/20 |
- |
1 |
10-43623603-C-A |
c.3231C>A |
p.Leu1077Leu |
Synonymous |
20/20 |
- |
1 |
10-43623605-C-T |
c.3233C>T |
p.Thr1078Met |
Missense |
20/20 |
- |
1 |
10-43623625-A-G |
c.3253A>G |
p.Thr1085Ala |
Missense |
20/20 |
- |
1 |
10-43623629-G-C |
c.3257G>C |
p.Gly1086Ala |
Missense |
20/20 |
- |
1 |
10-43623637-A-C |
c.3265A>C |
p.Arg1089Arg |
Synonymous |
20/20 |
- |
1 |
10-43623639-A-G |
c.3267A>G |
p.Arg1089Arg |
Synonymous |
20/20 |
- |
1 |
10-43623642-T-A |
c.3270T>A |
p.Tyr1090* |
Nonsense |
20/20 |
- |
2 |
10-43623642-T-G |
c.3270T>G |
p.Tyr1090* |
Nonsense |
20/20 |
- |
2 |
10-43623650-A-G |
c.3278A>G |
p.Asp1093Gly |
Missense |
20/20 |
- |
1 |
10-43623659-A-T |
c.3287A>T |
p.Tyr1096Phe |
Missense |
20/20 |
- |
2 |
10-43623686-C-T |
c.3314C>T |
p.Ala1105Val |
Missense |
20/20 |
- |
1 |
10-43623699-G-A |
c.3327G>A |
p.Met1109Ile |
Missense |
20/20 |
- |
1 |
10-43623699-G-T |
c.3327G>T |
p.Met1109Ile |
Missense |
20/20 |
- |
1 |
10-43623699-G-C |
c.3327G>C |
p.Met1109Ile |
Missense |
20/20 |
- |
1 |
10-43623812-C-T |
c.*95C>T |
- |
3-UTRSNV |
20/20 |
- |
4 |
10-43624105-G-A |
c.*388G>A |
- |
3-UTRSNV |
20/20 |
- |
1 |
10-43624317-A-T |
c.*600A>T |
- |
3-UTRSNV |
20/20 |
- |
1 |
10-43624317-A-G |
c.*600A>G |
- |
3-UTRSNV |
20/20 |
- |
1 |
10-43624763-G-C |
c.*1046G>C |
- |
3-UTRSNV |
20/20 |
- |
1 |
10-43624763-G-A |
c.*1046G>A |
- |
3-UTRSNV |
20/20 |
- |
1 |
10-43624833-T-C |
c.*1116T>C |
- |
3-UTRSNV |
20/20 |
- |
2 |
10-43625223-G-A |
c.*1506G>A |
- |
3-UTRSNV |
20/20 |
- |
1 |
10-43625308-G-A |
c.*1591G>A |
- |
3-UTRSNV |
20/20 |
- |
2 |
10-43625686-T-C |
c.*1969T>C |
- |
3-UTRSNV |
20/20 |
- |
5 |