13-32889647-A-C |
c.-197A>C |
- |
5_prime_UTR_variant |
1/27 |
- |
1 |
13-32889656-C-G |
c.-188C>G |
- |
5_prime_UTR_variant |
1/27 |
- |
2 |
13-32889656-C-T |
c.-188C>T |
- |
5_prime_UTR_variant |
1/27 |
- |
2 |
13-32889669-C-T |
c.-175C>T |
- |
5_prime_UTR_variant |
1/27 |
- |
2 |
13-32889682-G-A |
c.-162G>A |
- |
5_prime_UTR_variant |
1/27 |
- |
1 |
13-32889682-G-T |
c.-162G>T |
- |
5_prime_UTR_variant |
1/27 |
- |
1 |
13-32889762-G-C |
c.-82G>C |
- |
5_prime_UTR_variant |
1/27 |
- |
1 |
13-32889780-A-G |
c.-64A>G |
- |
5_prime_UTR_variant |
1/27 |
- |
1 |
13-32889784-A-G |
c.-60A>G |
- |
5_prime_UTR_variant |
1/27 |
- |
1 |
13-32889792-A-G |
c.-52A>G |
- |
5_prime_UTR_variant |
1/27 |
- |
15 |
13-32889792-A-C |
c.-52A>C |
- |
5_prime_UTR_variant |
1/27 |
- |
15 |
13-32889793-C-T |
c.-51C>T |
- |
5_prime_UTR_variant |
1/27 |
- |
1 |
13-32889803-G-A |
c.-41G>A |
- |
splice_region_variant,5_prime_UTR_variant |
1/27 |
- |
1 |
13-32889809-G-T |
c.-40+5G>T |
- |
splice_donor_5th_base_variant,intron_variant |
- |
1/26 |
1 |
13-32889811-G-A |
c.-40+7G>A |
- |
splice_region_variant,intron_variant |
- |
1/26 |
1 |
13-32889811-G-T |
c.-40+7G>T |
- |
splice_region_variant,intron_variant |
- |
1/26 |
1 |
13-32889829-G-C |
c.-40+25G>C |
- |
intron_variant |
- |
1/26 |
1 |
13-32889968-G-A |
c.-40+164G>A |
- |
intron_variant |
- |
1/26 |
9 |
13-32890026-C-A |
c.-40+222C>A |
- |
intron_variant |
- |
1/26 |
7 |
13-32890026-C-T |
c.-40+222C>T |
- |
intron_variant |
- |
1/26 |
7 |
13-32890227-G-A |
c.-39-332G>A |
- |
IntronicSNV |
- |
1/26 |
8 |
13-32890227-G-T |
c.-39-332G>T |
- |
IntronicSNV |
- |
1/26 |
8 |
13-32890443-G-A |
c.-39-116G>A |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890444-G-A |
c.-39-115G>A |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890445-A-G |
c.-39-114A>G |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890499-T-C |
c.-39-60T>C |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890523-C-G |
c.-39-36C>G |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890523-C-T |
c.-39-36C>T |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890555-G-T |
c.-39-4G>T |
- |
IntronicSNV |
- |
1/26 |
2 |
13-32890556-C-G |
c.-42C>G |
- |
IntronicSNV |
1/27 |
- |
1 |
13-32890556-C-T |
c.-42C>T |
- |
IntronicSNV |
1/27 |
- |
1 |
13-32890557-A-G |
c.-39-2A>G |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890558-G-C |
c.-40G>C |
- |
IntronicSNV |
1/27 |
- |
1 |
13-32890558-G-T |
c.-40G>T |
- |
IntronicSNV |
1/27 |
- |
1 |
13-32890558-G-A |
c.-39-1G>A |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890565-T-C |
c.-33T>C |
- |
5-UTRSNV |
2/27 |
- |
1 |
13-32890568-C-T |
c.-30C>T |
- |
5-UTRSNV |
2/27 |
- |
2 |
13-32890571-A-G |
c.-27A>G |
- |
5-UTRSNV |
2/27 |
- |
2 |
13-32890572-G-A |
c.-26G>A |
- |
5-UTRSNV |
2/27 |
- |
52 |
13-32890572-G-C |
c.-26G>C |
- |
5-UTRSNV |
2/27 |
- |
52 |
13-32890572-G-T |
c.-26G>T |
- |
5-UTRSNV |
2/27 |
- |
52 |
13-32890575-T-C |
c.-23T>C |
- |
5-UTRSNV |
2/27 |
- |
1 |
13-32890583-A-C |
c.-15A>C |
- |
5-UTRSNV |
2/27 |
- |
5 |
13-32890583-A-T |
c.-15A>T |
- |
5-UTRSNV |
2/27 |
- |
5 |
13-32890584-T-C |
c.-14T>C |
- |
5-UTRSNV |
2/27 |
- |
1 |
13-32890586-T-C |
c.-12T>C |
- |
5-UTRSNV |
2/27 |
- |
2 |
13-32890586-T-G |
c.-12T>G |
- |
5-UTRSNV |
2/27 |
- |
2 |
13-32890587-C-T |
c.-11C>T |
- |
5-UTRSNV |
2/27 |
- |
8 |
13-32890588-G-C |
c.-10G>C |
- |
5-UTRSNV |
2/27 |
- |
2 |
13-32890589-T-C |
c.-9T>C |
- |
5-UTRSNV |
2/27 |
- |
3 |
13-32890597-A-T |
c.-1A>T |
- |
5-UTRSNV |
2/27 |
- |
1 |
13-32890598-A-G |
c.1A>G |
p.M1? |
Missense |
2/27 |
- |
15 |
13-32890598-A-C |
c.1A>C |
p.M1? |
Missense |
2/27 |
- |
3 |
13-32890598-A-T |
c.1A>T |
p.M1? |
Missense |
2/27 |
- |
2 |
13-32890593-T-TA |
c.1dup |
p.M1? |
CdsStartInsertion |
2/27 |
- |
1 |
13-32890593-TA-T |
c.1del |
p.M1? |
CdsStartDeletion |
2/27 |
- |
1 |
13-32890599-T-G |
c.2T>G |
p.M1? |
Missense |
2/27 |
- |
28 |
13-32890599-T-A |
c.2T>A |
p.M1? |
Missense |
2/27 |
- |
8 |
13-32890599-T-C |
c.2T>C |
p.M1? |
Missense |
2/27 |
- |
9 |
13-32890600-G-A |
c.3G>A |
p.M1? |
Missense |
2/27 |
- |
21 |
13-32890600-G-T |
c.3G>T |
p.M1? |
Missense |
2/27 |
- |
12 |
13-32890600-TG-T |
c.3del |
p.M1? |
CdsStartDeletion |
2/27 |
- |
5 |
13-32890600-G-C |
c.3G>C |
p.M1? |
Missense |
2/27 |
- |
2 |
13-32890601-C-T |
c.4C>T |
p.P2S |
Missense |
2/27 |
- |
3 |
13-32890601-GCCTATTGGATCCAAAGAGAGGCCAACATTTTTTGAAATTTTTAAGACACGCTGCAACAA-G |
c.4_62del |
p.P2Sfs*9 |
InFrameDeletion |
2/27 |
- |
1 |
13-32890601-C-A |
c.4C>A |
p.P2T |
Missense |
2/27 |
- |
2 |
13-32890601-C-G |
c.4C>G |
p.P2A |
Missense |
2/27 |
- |
1 |
13-32890602-C-T |
c.5C>T |
p.P2L |
Missense |
2/27 |
- |
7 |
13-32890600-GC-G |
c.5del |
p.P2Lfs*23 |
Frameshift |
2/27 |
- |
5 |
13-32890602-C-A |
c.5C>A |
p.P2H |
Missense |
2/27 |
- |
1 |
13-32890602-C-G |
c.5C>G |
p.P2R |
Missense |
2/27 |
- |
1 |
13-32890603-T-G |
c.6T>G |
p.P2= |
Synonymous |
2/27 |
- |
4 |
13-32890603-T-A |
c.6T>A |
p.P2= |
Synonymous |
2/27 |
- |
4 |
13-32890603-T-C |
c.6T>C |
p.P2= |
Synonymous |
2/27 |
- |
5 |
13-32890603-CT-C |
c.6del |
p.I3Lfs*22 |
Frameshift |
2/27 |
- |
1 |
13-32890604-A-G |
c.7A>G |
p.I3V |
Missense |
2/27 |
- |
9 |
13-32890604-A-T |
c.7A>T |
p.I3F |
Missense |
2/27 |
- |
2 |
13-32890603-T-TA |
c.7dup |
p.I3Nfs*11 |
Frameshift |
2/27 |
- |
4 |
13-32890604-A-C |
c.7A>C |
p.I3L |
Missense |
2/27 |
- |
1 |
13-32890605-T-C |
c.8T>C |
p.I3T |
Missense |
2/27 |
- |
6 |
13-32890605-T-A |
c.8T>A |
p.I3N |
Missense |
2/27 |
- |
2 |
13-32890605-T-G |
c.8T>G |
p.I3S |
Missense |
2/27 |
- |
2 |
13-32890606-T-C |
c.9T>C |
p.I3= |
Synonymous |
2/27 |
- |
2 |
13-32890606-T-A |
c.9T>A |
p.I3= |
Synonymous |
2/27 |
- |
2 |
13-32890606-T-G |
c.9T>G |
p.I3M |
Missense |
2/27 |
- |
1 |
13-32890607-G-T |
c.10G>T |
p.G4* |
Nonsense |
2/27 |
- |
12 |
13-32890607-G-A |
c.10G>A |
p.G4R |
Missense |
2/27 |
- |
2 |
13-32890607-G-C |
c.10G>C |
p.G4R |
Missense |
2/27 |
- |
1 |
13-32890608-G-A |
c.11G>A |
p.G4E |
Missense |
2/27 |
- |
8 |
13-32890608-G-C |
c.11G>C |
p.G4A |
Missense |
2/27 |
- |
9 |
13-32890608-G-T |
c.11G>T |
p.G4V |
Missense |
2/27 |
- |
4 |
13-32890610-T-G |
c.13T>G |
p.S5A |
Missense |
2/27 |
- |
3 |
13-32890610-T-A |
c.13T>A |
p.S5T |
Missense |
2/27 |
- |
1 |
13-32890610-T-C |
c.13T>C |
p.S5P |
Missense |
2/27 |
- |
2 |
13-32890611-C-A |
c.14C>A |
p.S5Y |
Missense |
2/27 |
- |
2 |
13-32890611-C-G |
c.14C>G |
p.S5C |
Missense |
2/27 |
- |
1 |
13-32890611-C-T |
c.14C>T |
p.S5F |
Missense |
2/27 |
- |
2 |
13-32890610-TC-T |
c.15del |
p.E7Rfs*18 |
Frameshift |
2/27 |
- |
3 |
13-32890613-A-C |
c.16A>C |
p.K6Q |
Missense |
2/27 |
- |
4 |
13-32890613-A-G |
c.16A>G |
p.K6E |
Missense |
2/27 |
- |
2 |
13-32890613-A-T |
c.16A>T |
p.K6* |
Nonsense |
2/27 |
- |
1 |
13-32890612-CAAAG-C |
c.17_20del |
p.K6Rfs*18 |
Frameshift |
2/27 |
- |
2 |
13-32890612-CAA-C |
c.17_18del |
p.K6Rfs*7 |
Frameshift |
2/27 |
- |
9 |
13-32890614-A-C |
c.17A>C |
p.K6T |
Missense |
2/27 |
- |
1 |
13-32890614-A-G |
c.17A>G |
p.K6R |
Missense |
2/27 |
- |
1 |
13-32890614-A-T |
c.17A>T |
p.K6I |
Missense |
2/27 |
- |
1 |
13-32890610-TCCAAAGAGAGG-T |
c.18_28del |
p.K6Nfs*4 |
Frameshift |
2/27 |
- |
1 |
13-32890615-A-C |
c.18A>C |
p.K6N |
Missense |
2/27 |
- |
1 |
13-32890615-A-T |
c.18A>T |
p.K6N |
Missense |
2/27 |
- |
1 |
13-32890616-G-A |
c.19G>A |
p.E7K |
Missense |
2/27 |
- |
4 |
13-32890616-G-T |
c.19G>T |
p.E7* |
Nonsense |
2/27 |
- |
4 |
13-32890616-G-C |
c.19G>C |
p.E7Q |
Missense |
2/27 |
- |
2 |
13-32890614-AAGAG-A |
c.20_23del |
p.E7Gfs*17 |
Frameshift |
2/27 |
- |
4 |
13-32890617-A-T |
c.20A>T |
p.E7V |
Missense |
2/27 |
- |
2 |
13-32890617-A-C |
c.20A>C |
p.E7A |
Missense |
2/27 |
- |
1 |
13-32890617-A-G |
c.20A>G |
p.E7G |
Missense |
2/27 |
- |
1 |
13-32890613-AAAGAGAGGCCAACATTTTTTGAAATTTTT-A |
c.21_49del |
p.E7Dfs*14 |
Frameshift |
2/27 |
- |
3 |
13-32890618-G-C |
c.21G>C |
p.E7D |
Missense |
2/27 |
- |
1 |
13-32890618-G-T |
c.21G>T |
p.E7D |
Missense |
2/27 |
- |
1 |
13-32890614-AAG-A |
c.22_23del |
p.R8Afs*5 |
Frameshift |
2/27 |
- |
12 |
13-32890619-A-G |
c.22A>G |
p.R8G |
Missense |
2/27 |
- |
3 |
13-32890619-A-T |
c.22A>T |
p.R8W |
Missense |
2/27 |
- |
1 |
13-32890620-AGGC-A |
c.23_25del |
p.R8_P9delinsT |
MultiAAMissense |
2/27 |
- |
1 |
13-32890620-G-A |
c.23G>A |
p.R8K |
Missense |
2/27 |
- |
1 |
13-32890620-G-C |
c.23G>C |
p.R8T |
Missense |
2/27 |
- |
2 |
13-32890620-G-T |
c.23G>T |
p.R8M |
Missense |
2/27 |
- |
2 |
13-32890619-AGGCCAACATTTTTT-A |
c.24_37del |
p.P9Nfs*3 |
Frameshift |
2/27 |
- |
1 |
13-32890621-GGCCA-G |
c.24_27del |
p.P9Hfs*15 |
Frameshift |
2/27 |
- |
1 |
13-32890621-G-A |
c.24G>A |
p.R8= |
Synonymous |
2/27 |
- |
1 |
13-32890621-G-C |
c.24G>C |
p.R8S |
Missense |
2/27 |
- |
1 |
13-32890621-G-T |
c.24G>T |
p.R8S |
Missense |
2/27 |
- |
1 |
13-32890622-C-T |
c.25C>T |
p.P9S |
Missense |
2/27 |
- |
2 |
13-32890622-C-A |
c.25C>A |
p.P9T |
Missense |
2/27 |
- |
1 |
13-32890622-C-G |
c.25C>G |
p.P9A |
Missense |
2/27 |
- |
1 |
13-32890623-C-T |
c.26C>T |
p.P9L |
Missense |
2/27 |
- |
6 |
13-32890621-GC-G |
c.26del |
p.P9Qfs*16 |
Frameshift |
2/27 |
- |
14 |
13-32890623-C-G |
c.26C>G |
p.P9R |
Missense |
2/27 |
- |
5 |
13-32890623-C-A |
c.26C>A |
p.P9Q |
Missense |
2/27 |
- |
2 |
13-32890624-A-G |
c.27A>G |
p.P9= |
Synonymous |
2/27 |
- |
2 |
13-32890625-A-G |
c.28A>G |
p.T10A |
Missense |
2/27 |
- |
12 |
13-32890625-A-C |
c.28A>C |
p.T10P |
Missense |
2/27 |
- |
6 |
13-32890625-A-T |
c.28A>T |
p.T10S |
Missense |
2/27 |
- |
3 |
13-32890625-AC-GA |
c.28_29delinsGA |
p.T10E |
Missense |
2/27 |
- |
2 |
13-32890626-C-A |
c.29C>A |
p.T10K |
Missense |
2/27 |
- |
9 |
13-32890626-C-T |
c.29C>T |
p.T10I |
Missense |
2/27 |
- |
9 |
13-32890626-C-G |
c.29C>G |
p.T10R |
Missense |
2/27 |
- |
3 |
13-32890628-TT-AA |
c.31_32inv |
p.F11N |
Missense |
2/27 |
- |
3 |
13-32890628-TT-CG |
c.31_32delinsCG |
p.F11R |
Missense |
2/27 |
- |
20 |
13-32890628-T-C |
c.31T>C |
p.F11L |
Missense |
2/27 |
- |
4 |
13-32890630-T-A |
c.33T>A |
p.F11L |
Missense |
2/27 |
- |
4 |
13-32890630-T-G |
c.33T>G |
p.F11L |
Missense |
2/27 |
- |
7 |
13-32890628-T-G |
c.31T>G |
p.F11V |
Missense |
2/27 |
- |
7 |
13-32890628-TT-CA |
c.31_32delinsCA |
p.F11H |
Missense |
2/27 |
- |
1 |
13-32890628-T-A |
c.31T>A |
p.F11I |
Missense |
2/27 |
- |
4 |
13-32890628-TT-GC |
c.31_32delinsGC |
p.F11A |
Missense |
2/27 |
- |
1 |
13-32890629-TT-A |
c.32_33delinsA |
p.F11Yfs*14 |
Frameshift |
2/27 |
- |
1 |
13-32890629-T-A |
c.32T>A |
p.F11Y |
Missense |
2/27 |
- |
4 |
13-32890629-T-C |
c.32T>C |
p.F11S |
Missense |
2/27 |
- |
5 |
13-32890629-T-G |
c.32T>G |
p.F11C |
Missense |
2/27 |
- |
3 |
13-32890631-T-G |
c.34T>G |
p.F12V |
Missense |
2/27 |
- |
11 |
13-32890631-TTT-AAG |
c.34_36delinsAAG |
p.F12K |
Missense |
2/27 |
- |
13 |
13-32890631-TT-GC |
c.34_35delinsGC |
p.F12A |
Missense |
2/27 |
- |
1 |
13-32890631-T-A |
c.34T>A |
p.F12I |
Missense |
2/27 |
- |
3 |
13-32890631-T-C |
c.34T>C |
p.F12L |
Missense |
2/27 |
- |
4 |
13-32890632-T-C |
c.35T>C |
p.F12S |
Missense |
2/27 |
- |
7 |
13-32890632-T-A |
c.35T>A |
p.F12Y |
Missense |
2/27 |
- |
3 |
13-32890632-T-G |
c.35T>G |
p.F12C |
Missense |
2/27 |
- |
3 |
13-32890627-ATT-A |
c.35_36del |
p.F12* |
Frameshift |
2/27 |
- |
1 |
13-32890627-AT-A |
c.36del |
p.F12Lfs*13 |
Frameshift |
2/27 |
- |
13 |
13-32890627-A-AT |
c.36dup |
p.E13* |
Nonsense |
2/27 |
- |
14 |
13-32890633-T-A |
c.36T>A |
p.F12L |
Missense |
2/27 |
- |
4 |
13-32890633-T-G |
c.36T>G |
p.F12L |
Missense |
2/27 |
- |
4 |
13-32890633-T-TTAA |
c.36_37insTAA |
p.F12_E13ins* |
InFrameInsertion |
2/27 |
- |
2 |
13-32890634-G-T |
c.37G>T |
p.E13* |
Nonsense |
2/27 |
- |
13 |
13-32890634-TG-T |
c.37del |
p.E13Kfs*12 |
Frameshift |
2/27 |
- |
1 |
13-32890634-G-A |
c.37G>A |
p.E13K |
Missense |
2/27 |
- |
11 |
13-32890629-TTTTTGAAA-T |
c.37_44del |
p.E13* |
Frameshift |
2/27 |
- |
6 |
13-32890634-G-GT |
c.37_38insT |
p.E13Vfs*4 |
Frameshift |
2/27 |
- |
5 |
13-32890634-G-C |
c.37G>C |
p.E13Q |
Missense |
2/27 |
- |
4 |
13-32890634-GA-TC |
c.37_38inv |
p.E13S |
Missense |
2/27 |
- |
1 |
13-32890634-GA-AG |
c.37_38delinsAG |
p.E13R |
Missense |
2/27 |
- |
1 |
13-32890635-A-G |
c.38A>G |
p.E13G |
Missense |
2/27 |
- |
5 |
13-32890635-A-C |
c.38A>C |
p.E13A |
Missense |
2/27 |
- |
4 |
13-32890635-A-T |
c.38A>T |
p.E13V |
Missense |
2/27 |
- |
3 |
13-32890636-A-C |
c.39A>C |
p.E13D |
Missense |
2/27 |
- |
7 |
13-32890636-A-T |
c.39A>T |
p.E13D |
Missense |
2/27 |
- |
4 |
13-32890637-A-G |
c.40A>G |
p.I14V |
Missense |
2/27 |
- |
8 |
13-32890637-A-C |
c.40A>C |
p.I14L |
Missense |
2/27 |
- |
3 |
13-32890637-A-T |
c.40A>T |
p.I14F |
Missense |
2/27 |
- |
4 |
13-32890637-AT-GC |
c.40_41delinsGC |
p.I14A |
Missense |
2/27 |
- |
1 |
13-32890638-T-C |
c.41T>C |
p.I14T |
Missense |
2/27 |
- |
4 |
13-32890638-T-G |
c.41T>G |
p.I14S |
Missense |
2/27 |
- |
4 |
13-32890638-T-A |
c.41T>A |
p.I14N |
Missense |
2/27 |
- |
8 |
13-32890638-TT-GG |
c.41_42delinsGG |
p.I14R |
Missense |
2/27 |
- |
1 |
13-32890636-AATTTTTAAGACACGCTGCAACAAAGCAGGTATTGAC-A |
c.41_67+9del |
- |
SpliceDonorDeletion |
2/27 |
2/26 |
1 |
13-32890639-T-G |
c.42T>G |
p.I14M |
Missense |
2/27 |
- |
6 |
13-32890640-TT-GA |
c.43_44delinsGA |
p.F15D |
Missense |
2/27 |
- |
1 |
13-32890638-T-TTTA |
c.43_44insATT |
p.I14_F15insY |
InFrameInsertion |
2/27 |
- |
1 |
13-32890640-T-C |
c.43T>C |
p.F15L |
Missense |
2/27 |
- |
7 |
13-32890637-ATTT-A |
c.43_45del |
p.F15del |
InFrameDeletion |
2/27 |
- |
2 |
13-32890640-T-A |
c.43T>A |
p.F15I |
Missense |
2/27 |
- |
3 |
13-32890640-T-G |
c.43T>G |
p.F15V |
Missense |
2/27 |
- |
3 |
13-32890641-T-C |
c.44T>C |
p.F15S |
Missense |
2/27 |
- |
4 |
13-32890639-T-TTTA |
c.44_45insATT |
p.I14_F15insL |
InFrameInsertion |
2/27 |
- |
6 |
13-32890641-TT-AA |
c.44_45inv |
p.F15* |
Nonsense |
2/27 |
- |
1 |
13-32890641-T-A |
c.44T>A |
p.F15Y |
Missense |
2/27 |
- |
3 |
13-32890641-T-G |
c.44T>G |
p.F15C |
Missense |
2/27 |
- |
4 |
13-32890642-T-A |
c.45T>A |
p.F15L |
Missense |
2/27 |
- |
3 |
13-32890642-T-G |
c.45T>G |
p.F15L |
Missense |
2/27 |
- |
3 |
13-32890640-T-TTTC |
c.45_46insCTT |
p.F15_K16insL |
InFrameInsertion |
2/27 |
- |
1 |
13-32890637-AT-A |
c.45del |
p.F15Lfs*10 |
Frameshift |
2/27 |
- |
2 |
13-32890643-AA-GC |
c.46_47delinsGC |
p.K16A |
Missense |
2/27 |
- |
1 |
13-32890643-A-G |
c.46A>G |
p.K16E |
Missense |
2/27 |
- |
5 |
13-32890643-A-T |
c.46A>T |
p.K16* |
Nonsense |
2/27 |
- |
2 |
13-32890643-A-C |
c.46A>C |
p.K16Q |
Missense |
2/27 |
- |
3 |
13-32890644-AAGACACGCTGCAACAAAGCAGGTATTGACAAATTTTATATAACTTTATAAATTACACCG-A |
c.50_67+41del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
2/27 |
2/26 |
1 |
13-32890644-A-G |
c.47A>G |
p.K16R |
Missense |
2/27 |
- |
9 |
13-32890644-A-C |
c.47A>C |
p.K16T |
Missense |
2/27 |
- |
3 |
13-32890644-A-T |
c.47A>T |
p.K16M |
Missense |
2/27 |
- |
3 |
13-32890644-A-AG |
c.48dup |
p.T17Dfs*14 |
Frameshift |
2/27 |
- |
4 |
13-32890645-G-C |
c.48G>C |
p.K16N |
Missense |
2/27 |
- |
3 |
13-32890645-G-T |
c.48G>T |
p.K16N |
Missense |
2/27 |
- |
3 |
13-32890645-GAC-ATCGATCGAT |
c.48_50delinsATCGATCGAT |
p.T17Sfs*16 |
Frameshift |
2/27 |
- |
2 |
13-32890645-AGAC-A |
c.48_50del |
p.T17del |
InFrameDeletion |
2/27 |
- |
1 |
13-32890646-A-C |
c.49A>C |
p.T17P |
Missense |
2/27 |
- |
3 |
13-32890646-A-G |
c.49A>G |
p.T17A |
Missense |
2/27 |
- |
4 |
13-32890646-A-T |
c.49A>T |
p.T17S |
Missense |
2/27 |
- |
4 |
13-32890646-ACA-GAC |
c.49_51delinsGAC |
p.T17D |
Missense |
2/27 |
- |
1 |
13-32890647-C-T |
c.50C>T |
p.T17I |
Missense |
2/27 |
- |
8 |
13-32890647-C-A |
c.50C>A |
p.T17K |
Missense |
2/27 |
- |
3 |
13-32890647-C-G |
c.50C>G |
p.T17R |
Missense |
2/27 |
- |
3 |
13-32890645-GAC-G |
c.51_52del |
p.R18Lfs*12 |
Frameshift |
2/27 |
- |
12 |
13-32890647-C-CA |
c.51dup |
p.R18Tfs*13 |
Frameshift |
2/27 |
- |
8 |
13-32890648-A-G |
c.51A>G |
p.T17= |
Synonymous |
2/27 |
- |
1 |
13-32890648-A-T |
c.51A>T |
p.T17= |
Synonymous |
2/27 |
- |
1 |
13-32890648-A-C |
c.51A>C |
p.T17= |
Synonymous |
2/27 |
- |
1 |
13-32890649-C-T |
c.52C>T |
p.R18C |
Missense |
2/27 |
- |
16 |
13-32890649-C-CA |
c.52_53insA |
p.R18Qfs*13 |
Frameshift |
2/27 |
- |
1 |
13-32890645-GACACGCTGCA-G |
c.52_61del |
p.R18Kfs*4 |
Frameshift |
2/27 |
- |
5 |
13-32890649-C-A |
c.52C>A |
p.R18S |
Missense |
2/27 |
- |
5 |
13-32890649-C-G |
c.52C>G |
p.R18G |
Missense |
2/27 |
- |
6 |
13-32890649-CGC-TGA |
c.52_54delinsTGA |
p.R18* |
Nonsense |
2/27 |
- |
1 |
13-32890649-CGC-TGG |
c.52_54delinsTGG |
p.R18W |
Missense |
2/27 |
- |
1 |
13-32890649-CGC-AAG |
c.52_54delinsAAG |
p.R18K |
Missense |
2/27 |
- |
1 |
13-32890650-G-A |
c.53G>A |
p.R18H |
Missense |
2/27 |
- |
41 |
13-32890650-G-C |
c.53G>C |
p.R18P |
Missense |
2/27 |
- |
5 |
13-32890650-G-T |
c.53G>T |
p.R18L |
Missense |
2/27 |
- |
3 |
13-32890650-GC-AA |
c.53_54delinsAA |
p.R18Q |
Missense |
2/27 |
- |
1 |
13-32890651-C-G |
c.54C>G |
p.R18= |
Synonymous |
2/27 |
- |
1 |
13-32890652-T-A |
c.55T>A |
p.C19S |
Missense |
2/27 |
- |
4 |
13-32890652-T-C |
c.55T>C |
p.C19R |
Missense |
2/27 |
- |
3 |
13-32890652-T-G |
c.55T>G |
p.C19G |
Missense |
2/27 |
- |
3 |
13-32890652-TGC-GAG |
c.55_57delinsGAG |
p.C19E |
Missense |
2/27 |
- |
1 |
13-32890653-G-A |
c.56G>A |
p.C19Y |
Missense |
2/27 |
- |
10 |
13-32890653-G-T |
c.56G>T |
p.C19F |
Missense |
2/27 |
- |
7 |
13-32890653-G-C |
c.56G>C |
p.C19S |
Missense |
2/27 |
- |
4 |
13-32890654-C-T |
c.57C>T |
p.C19= |
Synonymous |
2/27 |
- |
2 |
13-32890654-C-A |
c.57C>A |
p.C19* |
Nonsense |
2/27 |
- |
4 |
13-32890654-C-G |
c.57C>G |
p.C19W |
Missense |
2/27 |
- |
5 |
13-32890655-A-G |
c.58A>G |
p.N20D |
Missense |
2/27 |
- |
5 |
13-32890655-AAC-TAA |
c.58_60delinsTAA |
p.N20* |
Nonsense |
2/27 |
- |
1 |
13-32890655-A-AGCTTGCAGTGAGCCGAGATCGCGCC |
c.58_59insGCTTGCAGTGAGCCGAGATCGCGCC |
p.N20Sfs*4 |
Frameshift |
2/27 |
- |
1 |
13-32890655-A-C |
c.58A>C |
p.N20H |
Missense |
2/27 |
- |
3 |
13-32890655-A-T |
c.58A>T |
p.N20Y |
Missense |
2/27 |
- |
3 |
13-32890654-C-CA |
c.59dup |
p.N20Kfs*11 |
Frameshift |
2/27 |
- |
1 |
13-32890656-A-G |
c.59A>G |
p.N20S |
Missense |
2/27 |
- |
9 |
13-32890656-A-C |
c.59A>C |
p.N20T |
Missense |
2/27 |
- |
3 |
13-32890656-A-T |
c.59A>T |
p.N20I |
Missense |
2/27 |
- |
3 |
13-32890653-GCAA-G |
c.60_62del |
p.N20del |
InFrameDeletion |
2/27 |
- |
2 |
13-32890657-C-T |
c.60C>T |
p.N20= |
Synonymous |
2/27 |
- |
1 |
13-32890657-C-A |
c.60C>A |
p.N20K |
Missense |
2/27 |
- |
4 |
13-32890657-C-G |
c.60C>G |
p.N20K |
Missense |
2/27 |
- |
4 |
13-32890658-A-C |
c.61A>C |
p.K21Q |
Missense |
2/27 |
- |
4 |
13-32890658-A-G |
c.61A>G |
p.K21E |
Missense |
2/27 |
- |
3 |
13-32890658-A-T |
c.61A>T |
p.K21* |
Nonsense |
2/27 |
- |
1 |
13-32890659-A-G |
c.62A>G |
p.K21R |
Missense |
2/27 |
- |
17 |
13-32890659-A-C |
c.62A>C |
p.K21T |
Missense |
2/27 |
- |
4 |
13-32890659-A-T |
c.62A>T |
p.K21I |
Missense |
2/27 |
- |
3 |
13-32890660-A-G |
c.63A>G |
p.K21= |
Synonymous |
2/27 |
- |
3 |
13-32890657-CA-C |
c.63del |
p.A22Qfs*3 |
Frameshift |
2/27 |
- |
6 |
13-32890660-A-C |
c.63A>C |
p.K21N |
Missense |
2/27 |
- |
3 |
13-32890660-A-T |
c.63A>T |
p.K21N |
Missense |
2/27 |
- |
3 |
13-32890661-GC-CT |
c.64_65delinsCT |
p.A22L |
Missense |
2/27 |
- |
3 |
13-32890661-GC-TA |
c.64_65delinsTA |
p.A22* |
Nonsense |
2/27 |
- |
1 |
13-32890661-GCA-CAT |
c.64_66delinsCAT |
p.A22H |
Missense |
2/27 |
- |
6 |
13-32890661-GCA-TTT |
c.64_66delinsTTT |
p.A22F |
Missense |
2/27 |
- |
2 |
13-32890661-GC-AT |
c.64_65delinsAT |
p.A22I |
Missense |
2/27 |
- |
4 |
13-32890661-G-C |
c.64G>C |
p.A22P |
Missense |
2/27 |
- |
8 |
13-32890661-G-A |
c.64G>A |
p.A22T |
Missense |
2/27 |
- |
5 |
13-32890661-G-T |
c.64G>T |
p.A22S |
Missense |
2/27 |
- |
3 |
13-32890661-GC-AA |
c.64_65delinsAA |
p.A22K |
Missense |
2/27 |
- |
1 |
13-32890661-GC-CA |
c.64_65delinsCA |
p.A22Q |
Missense |
2/27 |
- |
1 |
13-32890661-GCA-ATG |
c.64_66delinsATG |
p.A22M |
Missense |
2/27 |
- |
1 |
13-32890661-GCA-AAC |
c.64_66delinsAAC |
p.A22N |
Missense |
2/27 |
- |
1 |
13-32890661-AGC-A |
c.64_65del |
p.A22Rfs*8 |
Frameshift |
2/27 |
- |
1 |
13-32890661-GC-AG |
c.64_65delinsAG |
p.A22R |
Missense |
2/27 |
- |
1 |
13-32890662-CA-AC |
c.65_66delinsAC |
p.A22D |
Missense |
2/27 |
- |
7 |
13-32890662-C-T |
c.65C>T |
p.A22V |
Missense |
2/27 |
- |
8 |
13-32890662-C-G |
c.65C>G |
p.A22G |
Missense |
2/27 |
- |
9 |
13-32890662-C-A |
c.65C>A |
p.A22E |
Missense |
2/27 |
- |
10 |
13-32890663-CAG-C |
c.66_67del |
p.D23Ffs*7 |
SpliceDonorDeletion |
2/27 |
- |
11 |
13-32890662-C-CA |
c.66dup |
p.D23Rfs*8 |
SpliceDonorInsertion |
2/27 |
- |
14 |
13-32890663-A-C |
c.66A>C |
p.A22= |
Synonymous |
2/27 |
- |
3 |
13-32890663-A-G |
c.66A>G |
p.A22= |
Synonymous |
2/27 |
- |
3 |
13-32890663-A-T |
c.66A>T |
p.A22= |
Synonymous |
2/27 |
- |
5 |
13-32890664-G-T |
c.67G>T |
p.D23Y |
Missense |
2/27 |
- |
16 |
13-32890664-G-A |
c.67G>A |
p.D23N |
Missense |
2/27 |
- |
14 |
13-32890664-G-C |
c.67G>C |
p.D23H |
Missense |
2/27 |
- |
5 |
13-32890665-G-A |
c.67+1G>A |
- |
IntronicSNV |
- |
2/26 |
24 |
13-32890665-G-T |
c.67+1G>T |
- |
IntronicSNV |
- |
2/26 |
12 |
13-32890665-G-C |
c.67+1G>C |
- |
IntronicSNV |
- |
2/26 |
9 |
13-32890663-AG-A |
c.67+1del |
- |
IntronicDeletion |
- |
2/26 |
4 |
13-32890666-T-C |
c.67+2T>C |
- |
IntronicSNV |
- |
2/26 |
19 |
13-32890666-T-A |
c.67+2T>A |
- |
IntronicSNV |
- |
2/26 |
6 |
13-32890666-T-G |
c.67+2T>G |
- |
IntronicSNV |
- |
2/26 |
3 |
13-32890666-GT-G |
c.67+2del |
- |
IntronicDeletion |
- |
2/26 |
3 |
13-32890667-A-G |
c.67+3A>G |
- |
IntronicSNV |
- |
2/26 |
13 |
13-32890668-T-C |
c.67+4T>C |
- |
IntronicSNV |
- |
2/26 |
5 |
13-32890669-T-A |
c.67+5T>A |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890672-C-T |
c.67+8C>T |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890672-C-G |
c.67+8C>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890678-T-C |
c.67+14T>C |
- |
IntronicSNV |
- |
2/26 |
2 |
13-32890679-T-C |
c.67+15T>C |
- |
IntronicSNV |
- |
2/26 |
2 |
13-32890680-A-G |
c.67+16A>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890680-A-T |
c.67+16A>T |
- |
IntronicSNV |
- |
2/26 |
2 |
13-32890681-T-C |
c.67+17T>C |
- |
IntronicSNV |
- |
2/26 |
3 |
13-32890683-T-C |
c.67+19T>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890689-T-C |
c.67+25T>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890704-G-A |
c.67+40G>A |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890706-A-T |
c.67+42A>T |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890708-G-A |
c.67+44G>A |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890721-A-C |
c.67+57A>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890722-A-C |
c.67+58A>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890726-T-G |
c.67+62T>G |
- |
IntronicSNV |
- |
2/26 |
5 |
13-32890746-C-G |
c.67+82C>G |
- |
IntronicSNV |
- |
2/26 |
5 |
13-32890754-T-A |
c.67+90T>A |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890769-A-G |
c.67+105A>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890985-T-C |
c.67+321T>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32891042-T-C |
c.67+378T>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32891042-T-G |
c.67+378T>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32891672-T-C |
c.67+1008T>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32891706-A-C |
c.67+1042A>C |
- |
IntronicSNV |
- |
2/26 |
3 |
13-32891706-A-G |
c.67+1042A>G |
- |
IntronicSNV |
- |
2/26 |
4 |
13-32891798-T-C |
c.67+1134T>C |
- |
IntronicSNV |
- |
2/26 |
4 |
13-32891816-CAGAAAAGTCTTTTAAGATTGGGTAGAAATGAGCCACTGGAAATTCTAATTTTCATTTGA-C |
c.67+1154_67+1212del |
- |
Unclassified |
- |
2/26 |
2 |
13-32892217-C-G |
c.68-997C>G |
- |
IntronicSNV |
- |
2/26 |
2 |
13-32892217-C-T |
c.68-997C>T |
- |
IntronicSNV |
- |
2/26 |
2 |
13-32892735-T-C |
c.68-479T>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32892735-T-G |
c.68-479T>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32892760-A-C |
c.68-454A>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32892820-T-C |
c.68-394T>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893198-T-A |
c.68-16T>A |
- |
IntronicSNV |
- |
2/26 |
2 |
13-32893207-T-A |
c.68-7T>A |
- |
IntronicSNV |
- |
2/26 |
10 |
13-32893209-A-G |
c.68-5A>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893211-T-G |
c.68-3T>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893212-A-G |
c.68-2A>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893213-G-A |
c.68-1G>A |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893213-G-C |
c.68-1G>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893213-G-T |
c.68-1G>T |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893214-GAT-G |
c.68_69del |
p.D23Vfs*7 |
SpliceAcceptorDeletion |
3/27 |
- |
14 |
13-32893214-GATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTAT-G |
c.69_127del |
p.D23Efs*3 |
Unclassified |
3/27 |
- |
5 |
13-32893214-A-C |
c.68A>C |
p.D23A |
Missense |
3/27 |
- |
4 |
13-32893214-A-G |
c.68A>G |
p.D23G |
Missense |
3/27 |
- |
10 |
13-32893214-A-T |
c.68A>T |
p.D23V |
Missense |
3/27 |
- |
6 |
13-32893215-T-TAG |
c.69_70insAG |
p.L24Sfs*2 |
SpliceAcceptorInsertion |
3/27 |
- |
1 |
13-32893215-T-A |
c.69T>A |
p.D23E |
Missense |
3/27 |
- |
3 |
13-32893215-T-G |
c.69T>G |
p.D23E |
Missense |
3/27 |
- |
3 |
13-32893215-T-C |
c.69T>C |
p.D23= |
Synonymous |
3/27 |
- |
1 |
13-32893213-GATTTAGGACCA-G |
c.70_80del |
p.L24Kfs*3 |
Frameshift |
3/27 |
- |
1 |
13-32893216-T-A |
c.70T>A |
p.L24I |
Missense |
3/27 |
- |
3 |
13-32893216-T-G |
c.70T>G |
p.L24V |
Missense |
3/27 |
- |
4 |
13-32893216-TT-GC |
c.70_71delinsGC |
p.L24A |
Missense |
3/27 |
- |
1 |
13-32893217-T-A |
c.71T>A |
p.L24* |
Nonsense |
3/27 |
- |
5 |
13-32893216-T-TTGTC |
c.71_72insGTCT |
p.G25Sfs*7 |
Frameshift |
3/27 |
- |
1 |
13-32893217-T-G |
c.71T>G |
p.L24* |
Nonsense |
3/27 |
- |
8 |
13-32893214-ATTTAGGACCAATAAGTCTTAATTGGT-A |
c.71_96del |
p.L24* |
SpliceAcceptorDeletion |
3/27 |
- |
6 |
13-32893214-AT-A |
c.71del |
p.L24* |
Frameshift |
3/27 |
- |
6 |
13-32893217-T-C |
c.71T>C |
p.L24S |
Missense |
3/27 |
- |
5 |
13-32893218-A-T |
c.72A>T |
p.L24F |
Missense |
3/27 |
- |
8 |
13-32893218-TA-T |
c.72del |
p.G25Dfs*3 |
Frameshift |
3/27 |
- |
4 |
13-32893218-A-C |
c.72A>C |
p.L24F |
Missense |
3/27 |
- |
4 |
13-32893218-AGGACCAATAAGTC-TTTAAATAGAT |
c.72_85delinsTTTAAATAGAT |
p.L24_L29delinsFLNRF |
MultiAAMissense |
3/27 |
- |
1 |
13-32893219-G-A |
c.73G>A |
p.G25R |
Missense |
3/27 |
- |
29 |
13-32893219-G-C |
c.73G>C |
p.G25R |
Missense |
3/27 |
- |
14 |
13-32893219-G-T |
c.73G>T |
p.G25* |
Nonsense |
3/27 |
- |
8 |
13-32893219-G-GAA |
c.73_74insAA |
p.G25Efs*4 |
Frameshift |
3/27 |
- |
1 |
13-32893219-GG-AC |
c.73_74delinsAC |
p.G25T |
Missense |
3/27 |
- |
1 |
13-32893219-AGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTC-A |
c.73_118del |
p.G25Hfs*40 |
Frameshift |
3/27 |
- |
1 |
13-32893220-G-T |
c.74G>T |
p.G25V |
Missense |
3/27 |
- |
7 |
13-32893220-G-A |
c.74G>A |
p.G25E |
Missense |
3/27 |
- |
8 |
13-32893220-G-C |
c.74G>C |
p.G25A |
Missense |
3/27 |
- |
3 |
13-32893221-A-T |
c.75A>T |
p.G25= |
Synonymous |
3/27 |
- |
1 |
13-32893221-A-G |
c.75A>G |
p.G25= |
Synonymous |
3/27 |
- |
2 |
13-32893221-A-C |
c.75A>C |
p.G25= |
Synonymous |
3/27 |
- |
1 |
13-32893221-GA-G |
c.75del |
p.P26Qfs*2 |
Frameshift |
3/27 |
- |
1 |
13-32893222-C-A |
c.76C>A |
p.P26T |
Missense |
3/27 |
- |
5 |
13-32893222-C-T |
c.76C>T |
p.P26S |
Missense |
3/27 |
- |
6 |
13-32893222-C-G |
c.76C>G |
p.P26A |
Missense |
3/27 |
- |
3 |
13-32893223-C-T |
c.77C>T |
p.P26L |
Missense |
3/27 |
- |
9 |
13-32893223-C-A |
c.77C>A |
p.P26Q |
Missense |
3/27 |
- |
3 |
13-32893223-C-G |
c.77C>G |
p.P26R |
Missense |
3/27 |
- |
3 |
13-32893224-A-G |
c.78A>G |
p.P26= |
Synonymous |
3/27 |
- |
6 |
13-32893224-A-T |
c.78A>T |
p.P26= |
Synonymous |
3/27 |
- |
3 |
13-32893224-A-C |
c.78A>C |
p.P26= |
Synonymous |
3/27 |
- |
2 |
13-32893225-A-C |
c.79A>C |
p.I27L |
Missense |
3/27 |
- |
5 |
13-32893225-A-T |
c.79A>T |
p.I27L |
Missense |
3/27 |
- |
4 |
13-32893225-ATA-TGT |
c.79_81delinsTGT |
p.I27C |
Missense |
3/27 |
- |
1 |
13-32893225-A-G |
c.79A>G |
p.I27V |
Missense |
3/27 |
- |
21 |
13-32893223-C-CA |
c.79dup |
p.I27Nfs*4 |
Frameshift |
3/27 |
- |
1 |
13-32893226-T-G |
c.80T>G |
p.I27R |
Missense |
3/27 |
- |
4 |
13-32893226-T-A |
c.80T>A |
p.I27K |
Missense |
3/27 |
- |
3 |
13-32893226-T-C |
c.80T>C |
p.I27T |
Missense |
3/27 |
- |
4 |
13-32893223-CAAT-C |
c.80_82del |
p.I27del |
InFrameDeletion |
3/27 |
- |
2 |
13-32893227-A-G |
c.81A>G |
p.I27M |
Missense |
3/27 |
- |
7 |
13-32893227-AAG-TAAGACT |
c.81_83delinsTAAGACT |
p.S28Kfs*4 |
Frameshift |
3/27 |
- |
3 |
13-32893228-AG-CT |
c.82_83inv |
p.S28L |
Missense |
3/27 |
- |
1 |
13-32893228-AAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGC-A |
c.84_142del |
p.S28Rfs*4 |
InFrameDeletion |
3/27 |
- |
3 |
13-32893228-A-G |
c.82A>G |
p.S28G |
Missense |
3/27 |
- |
7 |
13-32893228-A-C |
c.82A>C |
p.S28R |
Missense |
3/27 |
- |
4 |
13-32893228-A-T |
c.82A>T |
p.S28C |
Missense |
3/27 |
- |
3 |
13-32893228-AG-GC |
c.82_83delinsGC |
p.S28A |
Missense |
3/27 |
- |
1 |
13-32893228-AG-CC |
c.82_83delinsCC |
p.S28P |
Missense |
3/27 |
- |
1 |
13-32893229-G-A |
c.83G>A |
p.S28N |
Missense |
3/27 |
- |
10 |
13-32893229-G-C |
c.83G>C |
p.S28T |
Missense |
3/27 |
- |
4 |
13-32893229-AGT-A |
c.83_84del |
p.S28Tfs*2 |
Frameshift |
3/27 |
- |
1 |
13-32893229-G-T |
c.83G>T |
p.S28I |
Missense |
3/27 |
- |
3 |
13-32893229-GT-AG |
c.83_84delinsAG |
p.S28K |
Missense |
3/27 |
- |
1 |
13-32893230-T-A |
c.84T>A |
p.S28R |
Missense |
3/27 |
- |
4 |
13-32893230-T-G |
c.84T>G |
p.S28R |
Missense |
3/27 |
- |
3 |
13-32893231-C-T |
c.85C>T |
p.L29F |
Missense |
3/27 |
- |
6 |
13-32893231-C-G |
c.85C>G |
p.L29V |
Missense |
3/27 |
- |
11 |
13-32893231-C-A |
c.85C>A |
p.L29I |
Missense |
3/27 |
- |
5 |
13-32893232-CTT-C |
c.86_87del |
p.L29Qfs*4 |
Frameshift |
3/27 |
- |
7 |
13-32893232-T-G |
c.86T>G |
p.L29R |
Missense |
3/27 |
- |
6 |
13-32893232-T-A |
c.86T>A |
p.L29H |
Missense |
3/27 |
- |
3 |
13-32893232-T-C |
c.86T>C |
p.L29P |
Missense |
3/27 |
- |
3 |
13-32893234-A-G |
c.88A>G |
p.N30D |
Missense |
3/27 |
- |
7 |
13-32893234-A-C |
c.88A>C |
p.N30H |
Missense |
3/27 |
- |
7 |
13-32893234-A-T |
c.88A>T |
p.N30Y |
Missense |
3/27 |
- |
3 |
13-32893233-T-TA |
c.89dup |
p.N30Kfs*4 |
Frameshift |
3/27 |
- |
1 |
13-32893235-A-C |
c.89A>C |
p.N30T |
Missense |
3/27 |
- |
3 |
13-32893235-A-G |
c.89A>G |
p.N30S |
Missense |
3/27 |
- |
3 |
13-32893235-A-T |
c.89A>T |
p.N30I |
Missense |
3/27 |
- |
3 |
13-32893236-T-C |
c.90T>C |
p.N30= |
Synonymous |
3/27 |
- |
4 |
13-32893236-T-A |
c.90T>A |
p.N30K |
Missense |
3/27 |
- |
4 |
13-32893236-T-G |
c.90T>G |
p.N30K |
Missense |
3/27 |
- |
4 |
13-32893237-T-C |
c.91T>C |
p.W31R |
Missense |
3/27 |
- |
21 |
13-32893237-T-G |
c.91T>G |
p.W31G |
Missense |
3/27 |
- |
16 |
13-32893237-T-A |
c.91T>A |
p.W31R |
Missense |
3/27 |
- |
10 |
13-32893235-AT-A |
c.91del |
p.W31Gfs*49 |
Frameshift |
3/27 |
- |
4 |
13-32893237-TG-AC |
c.91_92delinsAC |
p.W31T |
Missense |
3/27 |
- |
1 |
13-32893238-G-A |
c.92G>A |
p.W31* |
Nonsense |
3/27 |
- |
27 |
13-32893238-G-T |
c.92G>T |
p.W31L |
Missense |
3/27 |
- |
14 |
13-32893238-G-C |
c.92G>C |
p.W31S |
Missense |
3/27 |
- |
5 |
13-32893235-ATTGGTTTGAAGAACT-A |
c.92_106del |
p.W31_L35del |
InFrameDeletion |
3/27 |
- |
3 |
13-32893239-G-A |
c.93G>A |
p.W31* |
Nonsense |
3/27 |
- |
23 |
13-32893239-G-T |
c.93G>T |
p.W31C |
Missense |
3/27 |
- |
34 |
13-32893239-G-C |
c.93G>C |
p.W31C |
Missense |
3/27 |
- |
19 |
13-32893237-TG-T |
c.93del |
p.W31Cfs*49 |
Frameshift |
3/27 |
- |
1 |
13-32893240-T-C |
c.94T>C |
p.F32L |
Missense |
3/27 |
- |
12 |
13-32893242-T-A |
c.96T>A |
p.F32L |
Missense |
3/27 |
- |
7 |
13-32893242-T-G |
c.96T>G |
p.F32L |
Missense |
3/27 |
- |
11 |
13-32893240-T-A |
c.94T>A |
p.F32I |
Missense |
3/27 |
- |
3 |
13-32893240-T-G |
c.94T>G |
p.F32V |
Missense |
3/27 |
- |
3 |
13-32893240-TT-GG |
c.94_95delinsGG |
p.F32G |
Missense |
3/27 |
- |
1 |
13-32893241-T-A |
c.95T>A |
p.F32Y |
Missense |
3/27 |
- |
3 |
13-32893241-T-C |
c.95T>C |
p.F32S |
Missense |
3/27 |
- |
4 |
13-32893241-T-G |
c.95T>G |
p.F32C |
Missense |
3/27 |
- |
4 |
13-32893242-T-C |
c.96T>C |
p.F32= |
Synonymous |
3/27 |
- |
1 |
13-32893239-GT-G |
c.96del |
p.F32Lfs*48 |
Frameshift |
3/27 |
- |
1 |
13-32893243-G-A |
c.97G>A |
p.E33K |
Missense |
3/27 |
- |
8 |
13-32893243-G-T |
c.97G>T |
p.E33* |
Nonsense |
3/27 |
- |
12 |
13-32893243-G-C |
c.97G>C |
p.E33Q |
Missense |
3/27 |
- |
3 |
13-32893243-TG-T |
c.97del |
p.E33Kfs*47 |
Frameshift |
3/27 |
- |
1 |
13-32893244-A-C |
c.98A>C |
p.E33A |
Missense |
3/27 |
- |
4 |
13-32893244-A-G |
c.98A>G |
p.E33G |
Missense |
3/27 |
- |
3 |
13-32893244-A-T |
c.98A>T |
p.E33V |
Missense |
3/27 |
- |
3 |
13-32893243-G-GA |
c.99dup |
p.E34Rfs*10 |
Frameshift |
3/27 |
- |
1 |
13-32893245-A-G |
c.99A>G |
p.E33= |
Synonymous |
3/27 |
- |
1 |
13-32893243-GA-G |
c.99del |
p.E34Nfs*46 |
Frameshift |
3/27 |
- |
1 |
13-32893245-A-C |
c.99A>C |
p.E33D |
Missense |
3/27 |
- |
3 |
13-32893245-A-T |
c.99A>T |
p.E33D |
Missense |
3/27 |
- |
3 |
13-32893246-G-T |
c.100G>T |
p.E34* |
Nonsense |
3/27 |
- |
16 |
13-32893246-G-A |
c.100G>A |
p.E34K |
Missense |
3/27 |
- |
8 |
13-32893246-G-C |
c.100G>C |
p.E34Q |
Missense |
3/27 |
- |
4 |
13-32893247-A-G |
c.101A>G |
p.E34G |
Missense |
3/27 |
- |
4 |
13-32893247-A-C |
c.101A>C |
p.E34A |
Missense |
3/27 |
- |
3 |
13-32893247-A-T |
c.101A>T |
p.E34V |
Missense |
3/27 |
- |
3 |
13-32893248-A-C |
c.102A>C |
p.E34D |
Missense |
3/27 |
- |
3 |
13-32893248-A-T |
c.102A>T |
p.E34D |
Missense |
3/27 |
- |
3 |
13-32893248-A-G |
c.102A>G |
p.E34= |
Synonymous |
3/27 |
- |
1 |
13-32893249-C-T |
c.103C>T |
p.L35F |
Missense |
3/27 |
- |
14 |
13-32893248-A-AC |
c.103dup |
p.L35Pfs*9 |
Frameshift |
3/27 |
- |
4 |
13-32893249-C-A |
c.103C>A |
p.L35I |
Missense |
3/27 |
- |
3 |
13-32893249-C-G |
c.103C>G |
p.L35V |
Missense |
3/27 |
- |
3 |
13-32893249-CT-GC |
c.103_104delinsGC |
p.L35A |
Missense |
3/27 |
- |
1 |
13-32893250-T-C |
c.104T>C |
p.L35P |
Missense |
3/27 |
- |
6 |
13-32893248-ACTTTCTT-A |
c.104_110del |
p.L35Qfs*43 |
Frameshift |
3/27 |
- |
5 |
13-32893250-T-A |
c.104T>A |
p.L35H |
Missense |
3/27 |
- |
3 |
13-32893250-T-G |
c.104T>G |
p.L35R |
Missense |
3/27 |
- |
3 |
13-32893252-T-C |
c.106T>C |
p.S36P |
Missense |
3/27 |
- |
4 |
13-32893252-TC-AA |
c.106_107delinsAA |
p.S36N |
Missense |
3/27 |
- |
1 |
13-32893249-C-CT |
c.106dup |
p.S36Ffs*8 |
Frameshift |
3/27 |
- |
5 |
13-32893248-ACTTT-A |
c.106_109del |
p.S36Qfs*43 |
Frameshift |
3/27 |
- |
4 |
13-32893252-T-A |
c.106T>A |
p.S36T |
Missense |
3/27 |
- |
4 |
13-32893252-T-G |
c.106T>G |
p.S36A |
Missense |
3/27 |
- |
3 |
13-32893252-TC-CG |
c.106_107delinsCG |
p.S36R |
Missense |
3/27 |
- |
1 |
13-32893252-TCT-CAA |
c.106_108delinsCAA |
p.S36Q |
Missense |
3/27 |
- |
1 |
13-32893249-CT-C |
c.106del |
p.S36Lfs*44 |
Frameshift |
3/27 |
- |
1 |
13-32893253-C-T |
c.107C>T |
p.S36F |
Missense |
3/27 |
- |
11 |
13-32893253-C-A |
c.107C>A |
p.S36Y |
Missense |
3/27 |
- |
7 |
13-32893253-C-G |
c.107C>G |
p.S36C |
Missense |
3/27 |
- |
3 |
13-32893255-TTCAG-T |
c.109_112del |
p.S37Kfs*42 |
Frameshift |
3/27 |
- |
4 |
13-32893255-T-G |
c.109T>G |
p.S37A |
Missense |
3/27 |
- |
7 |
13-32893255-T-A |
c.109T>A |
p.S37T |
Missense |
3/27 |
- |
3 |
13-32893255-T-C |
c.109T>C |
p.S37P |
Missense |
3/27 |
- |
3 |
13-32893255-TC-AA |
c.109_110delinsAA |
p.S37K |
Missense |
3/27 |
- |
1 |
13-32893256-CA-GT |
c.110_111delinsGT |
p.S37C |
Missense |
3/27 |
- |
1 |
13-32893256-C-T |
c.110C>T |
p.S37L |
Missense |
3/27 |
- |
4 |
13-32893256-C-A |
c.110C>A |
p.S37* |
Nonsense |
3/27 |
- |
9 |
13-32893256-C-G |
c.110C>G |
p.S37* |
Nonsense |
3/27 |
- |
11 |
13-32893256-CA-TT |
c.110_111delinsTT |
p.S37F |
Missense |
3/27 |
- |
2 |
13-32893258-G-A |
c.112G>A |
p.E38K |
Missense |
3/27 |
- |
19 |
13-32893258-G-T |
c.112G>T |
p.E38* |
Nonsense |
3/27 |
- |
3 |
13-32893258-G-C |
c.112G>C |
p.E38Q |
Missense |
3/27 |
- |
4 |
13-32893259-A-C |
c.113A>C |
p.E38A |
Missense |
3/27 |
- |
3 |
13-32893259-A-G |
c.113A>G |
p.E38G |
Missense |
3/27 |
- |
3 |
13-32893259-A-T |
c.113A>T |
p.E38V |
Missense |
3/27 |
- |
3 |
13-32893260-A-G |
c.114A>G |
p.E38= |
Synonymous |
3/27 |
- |
1 |
13-32893260-A-C |
c.114A>C |
p.E38D |
Missense |
3/27 |
- |
3 |
13-32893260-A-T |
c.114A>T |
p.E38D |
Missense |
3/27 |
- |
3 |
13-32893261-AG-A |
c.115del |
p.A39Lfs*41 |
Frameshift |
3/27 |
- |
8 |
13-32893261-GC-TG |
c.115_116delinsTG |
p.A39C |
Missense |
3/27 |
- |
1 |
13-32893261-G-A |
c.115G>A |
p.A39T |
Missense |
3/27 |
- |
4 |
13-32893261-G-C |
c.115G>C |
p.A39P |
Missense |
3/27 |
- |
5 |
13-32893261-G-T |
c.115G>T |
p.A39S |
Missense |
3/27 |
- |
5 |
13-32893261-GC-CG |
c.115_116delinsCG |
p.A39R |
Missense |
3/27 |
- |
2 |
13-32893261-GC-AT |
c.115_116delinsAT |
p.A39I |
Missense |
3/27 |
- |
1 |
13-32893261-GC-AA |
c.115_116delinsAA |
p.A39N |
Missense |
3/27 |
- |
2 |
13-32893261-GCT-AAG |
c.115_117delinsAAG |
p.A39K |
Missense |
3/27 |
- |
2 |
13-32893261-GC-CT |
c.115_116delinsCT |
p.A39L |
Missense |
3/27 |
- |
2 |
13-32893261-GCT-ATG |
c.115_117delinsATG |
p.A39M |
Missense |
3/27 |
- |
2 |
13-32893262-C-T |
c.116C>T |
p.A39V |
Missense |
3/27 |
- |
15 |
13-32893262-C-A |
c.116C>A |
p.A39D |
Missense |
3/27 |
- |
4 |
13-32893262-C-G |
c.116C>G |
p.A39G |
Missense |
3/27 |
- |
3 |
13-32893263-T-A |
c.117T>A |
p.A39= |
Synonymous |
3/27 |
- |
2 |
13-32893263-T-C |
c.117T>C |
p.A39= |
Synonymous |
3/27 |
- |
2 |
13-32893263-T-G |
c.117T>G |
p.A39= |
Synonymous |
3/27 |
- |
2 |
13-32893264-CCA-AAC |
c.118_120delinsAAC |
p.P40N |
Missense |
3/27 |
- |
1 |
13-32893264-C-T |
c.118C>T |
p.P40S |
Missense |
3/27 |
- |
4 |
13-32893264-C-G |
c.118C>G |
p.P40A |
Missense |
3/27 |
- |
4 |
13-32893264-C-A |
c.118C>A |
p.P40T |
Missense |
3/27 |
- |
4 |
13-32893265-C-A |
c.119C>A |
p.P40Q |
Missense |
3/27 |
- |
3 |
13-32893265-C-G |
c.119C>G |
p.P40R |
Missense |
3/27 |
- |
3 |
13-32893265-C-T |
c.119C>T |
p.P40L |
Missense |
3/27 |
- |
4 |
13-32893265-CA-AT |
c.119_120delinsAT |
p.P40H |
Missense |
3/27 |
- |
1 |
13-32893265-CCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCA-C |
c.119_177del |
p.P40Qfs*4 |
Frameshift |
3/27 |
- |
1 |
13-32893266-A-G |
c.120A>G |
p.P40= |
Synonymous |
3/27 |
- |
2 |
13-32893265-C-CA |
c.120dup |
p.P41Tfs*3 |
Frameshift |
3/27 |
- |
1 |
13-32893263-TCCAC-T |
c.120_123del |
p.P41Ifs*38 |
Frameshift |
3/27 |
- |
5 |
13-32893266-A-T |
c.120A>T |
p.P40= |
Synonymous |
3/27 |
- |
1 |
13-32893266-A-C |
c.120A>C |
p.P40= |
Synonymous |
3/27 |
- |
1 |
13-32893267-CC-AA |
c.121_122delinsAA |
p.P41N |
Missense |
3/27 |
- |
1 |
13-32893267-C-T |
c.121C>T |
p.P41S |
Missense |
3/27 |
- |
12 |
13-32893267-C-G |
c.121C>G |
p.P41A |
Missense |
3/27 |
- |
7 |
13-32893267-C-A |
c.121C>A |
p.P41T |
Missense |
3/27 |
- |
3 |
13-32893265-CACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAA-C |
c.123_181del |
p.Y42Ifs*2 |
InFrameDeletion |
3/27 |
- |
1 |
13-32893268-C-T |
c.122C>T |
p.P41L |
Missense |
3/27 |
- |
22 |
13-32893268-C-A |
c.122C>A |
p.P41H |
Missense |
3/27 |
- |
3 |
13-32893268-C-G |
c.122C>G |
p.P41R |
Missense |
3/27 |
- |
3 |
13-32893266-AC-A |
c.123del |
p.Y42Ifs*38 |
Frameshift |
3/27 |
- |
1 |
13-32893270-T-C |
c.124T>C |
p.Y42H |
Missense |
3/27 |
- |
5 |
13-32893270-T-A |
c.124T>A |
p.Y42N |
Missense |
3/27 |
- |
3 |
13-32893270-T-G |
c.124T>G |
p.Y42D |
Missense |
3/27 |
- |
3 |
13-32893270-TA-GC |
c.124_125delinsGC |
p.Y42A |
Missense |
3/27 |
- |
1 |
13-32893271-A-G |
c.125A>G |
p.Y42C |
Missense |
3/27 |
- |
85 |
13-32893269-CTATAA-C |
c.125_129del |
p.Y42Ffs*2 |
Frameshift |
3/27 |
- |
3 |
13-32893270-T-TA |
c.125dup |
p.Y42* |
Nonsense |
3/27 |
- |
1 |
13-32893271-A-C |
c.125A>C |
p.Y42S |
Missense |
3/27 |
- |
3 |
13-32893271-A-T |
c.125A>T |
p.Y42F |
Missense |
3/27 |
- |
3 |
13-32893268-C-CCTATAATT |
c.125_132dup |
p.E45Ifs*38 |
Frameshift |
3/27 |
- |
1 |
13-32893272-T-A |
c.126T>A |
p.Y42* |
Nonsense |
3/27 |
- |
6 |
13-32893272-T-G |
c.126T>G |
p.Y42* |
Nonsense |
3/27 |
- |
3 |
13-32893273-A-G |
c.127A>G |
p.N43D |
Missense |
3/27 |
- |
4 |
13-32893273-TAA-T |
c.127_128del |
p.N43Ffs*2 |
Frameshift |
3/27 |
- |
4 |
13-32893273-A-C |
c.127A>C |
p.N43H |
Missense |
3/27 |
- |
3 |
13-32893273-A-T |
c.127A>T |
p.N43Y |
Missense |
3/27 |
- |
4 |
13-32893273-AA-TT |
c.127_128inv |
p.N43F |
Missense |
3/27 |
- |
1 |
13-32893272-TA-T |
c.128del |
p.N43Ifs*37 |
Frameshift |
3/27 |
- |
5 |
13-32893274-A-C |
c.128A>C |
p.N43T |
Missense |
3/27 |
- |
3 |
13-32893274-A-G |
c.128A>G |
p.N43S |
Missense |
3/27 |
- |
4 |
13-32893274-A-T |
c.128A>T |
p.N43I |
Missense |
3/27 |
- |
4 |
13-32893275-T-A |
c.129T>A |
p.N43K |
Missense |
3/27 |
- |
3 |
13-32893275-T-G |
c.129T>G |
p.N43K |
Missense |
3/27 |
- |
3 |
13-32893276-T-TA |
c.130_131insA |
p.S44Yfs*2 |
Frameshift |
3/27 |
- |
1 |
13-32893276-T-C |
c.130T>C |
p.S44P |
Missense |
3/27 |
- |
4 |
13-32893276-T-A |
c.130T>A |
p.S44T |
Missense |
3/27 |
- |
3 |
13-32893276-T-G |
c.130T>G |
p.S44A |
Missense |
3/27 |
- |
3 |
13-32893277-C-T |
c.131C>T |
p.S44F |
Missense |
3/27 |
- |
4 |
13-32893277-C-G |
c.131C>G |
p.S44C |
Missense |
3/27 |
- |
8 |
13-32893277-C-A |
c.131C>A |
p.S44Y |
Missense |
3/27 |
- |
3 |
13-32893279-G-A |
c.133G>A |
p.E45K |
Missense |
3/27 |
- |
6 |
13-32893279-G-T |
c.133G>T |
p.E45* |
Nonsense |
3/27 |
- |
6 |
13-32893279-TG-T |
c.133del |
p.E45Nfs*35 |
Frameshift |
3/27 |
- |
1 |
13-32893279-G-C |
c.133G>C |
p.E45Q |
Missense |
3/27 |
- |
4 |
13-32893279-GA-AT |
c.133_134delinsAT |
p.E45I |
Missense |
3/27 |
- |
1 |
13-32893280-A-C |
c.134A>C |
p.E45A |
Missense |
3/27 |
- |
3 |
13-32893280-A-G |
c.134A>G |
p.E45G |
Missense |
3/27 |
- |
3 |
13-32893280-A-T |
c.134A>T |
p.E45V |
Missense |
3/27 |
- |
3 |
13-32893281-A-C |
c.135A>C |
p.E45D |
Missense |
3/27 |
- |
3 |
13-32893281-A-T |
c.135A>T |
p.E45D |
Missense |
3/27 |
- |
3 |
13-32893282-CC-AA |
c.136_137delinsAA |
p.P46N |
Missense |
3/27 |
- |
1 |
13-32893282-C-T |
c.136C>T |
p.P46S |
Missense |
3/27 |
- |
14 |
13-32893282-C-A |
c.136C>A |
p.P46T |
Missense |
3/27 |
- |
5 |
13-32893282-C-G |
c.136C>G |
p.P46A |
Missense |
3/27 |
- |
3 |
13-32893281-AC-A |
c.137del |
p.P46Lfs*34 |
Frameshift |
3/27 |
- |
1 |
13-32893283-C-G |
c.137C>G |
p.P46R |
Missense |
3/27 |
- |
5 |
13-32893283-C-T |
c.137C>T |
p.P46L |
Missense |
3/27 |
- |
7 |
13-32893283-C-A |
c.137C>A |
p.P46H |
Missense |
3/27 |
- |
4 |
13-32893284-T-C |
c.138T>C |
p.P46= |
Synonymous |
3/27 |
- |
1 |
13-32893284-T-G |
c.138T>G |
p.P46= |
Synonymous |
3/27 |
- |
2 |
13-32893284-T-A |
c.138T>A |
p.P46= |
Synonymous |
3/27 |
- |
1 |
13-32893285-GCA-TTT |
c.139_141delinsTTT |
p.A47F |
Missense |
3/27 |
- |
2 |
13-32893285-G-A |
c.139G>A |
p.A47T |
Missense |
3/27 |
- |
5 |
13-32893285-TG-T |
c.139del |
p.A47Qfs*33 |
Frameshift |
3/27 |
- |
1 |
13-32893285-GCA-TGT |
c.139_141delinsTGT |
p.A47C |
Missense |
3/27 |
- |
1 |
13-32893285-G-C |
c.139G>C |
p.A47P |
Missense |
3/27 |
- |
3 |
13-32893285-G-T |
c.139G>T |
p.A47S |
Missense |
3/27 |
- |
4 |
13-32893285-GCA-TGG |
c.139_141delinsTGG |
p.A47W |
Missense |
3/27 |
- |
1 |
13-32893285-GCA-TAT |
c.139_141delinsTAT |
p.A47Y |
Missense |
3/27 |
- |
2 |
13-32893285-GC-TA |
c.139_140delinsTA |
p.A47* |
Nonsense |
3/27 |
- |
1 |
13-32893286-C-G |
c.140C>G |
p.A47G |
Missense |
3/27 |
- |
5 |
13-32893286-GC-G |
c.140del |
p.A47Efs*33 |
Frameshift |
3/27 |
- |
1 |
13-32893286-CA-AC |
c.140_141delinsAC |
p.A47D |
Missense |
3/27 |
- |
2 |
13-32893286-C-A |
c.140C>A |
p.A47E |
Missense |
3/27 |
- |
3 |
13-32893286-C-T |
c.140C>T |
p.A47V |
Missense |
3/27 |
- |
7 |
13-32893287-A-C |
c.141A>C |
p.A47= |
Synonymous |
3/27 |
- |
2 |
13-32893287-A-G |
c.141A>G |
p.A47= |
Synonymous |
3/27 |
- |
1 |
13-32893287-A-T |
c.141A>T |
p.A47= |
Synonymous |
3/27 |
- |
1 |
13-32893287-A-AT |
c.141_142insT |
p.E48* |
Nonsense |
3/27 |
- |
1 |
13-32893288-G-A |
c.142G>A |
p.E48K |
Missense |
3/27 |
- |
12 |
13-32893288-G-C |
c.142G>C |
p.E48Q |
Missense |
3/27 |
- |
4 |
13-32893288-G-T |
c.142G>T |
p.E48* |
Nonsense |
3/27 |
- |
1 |
13-32893289-A-C |
c.143A>C |
p.E48A |
Missense |
3/27 |
- |
3 |
13-32893289-A-G |
c.143A>G |
p.E48G |
Missense |
3/27 |
- |
7 |
13-32893289-A-T |
c.143A>T |
p.E48V |
Missense |
3/27 |
- |
5 |
13-32893290-A-C |
c.144A>C |
p.E48D |
Missense |
3/27 |
- |
5 |
13-32893290-A-T |
c.144A>T |
p.E48D |
Missense |
3/27 |
- |
5 |
13-32893288-GA-G |
c.144del |
p.E49Nfs*31 |
Frameshift |
3/27 |
- |
6 |
13-32893290-A-G |
c.144A>G |
p.E48= |
Synonymous |
3/27 |
- |
1 |
13-32893291-G-T |
c.145G>T |
p.E49* |
Nonsense |
3/27 |
- |
59 |
13-32893291-G-A |
c.145G>A |
p.E49K |
Missense |
3/27 |
- |
6 |
13-32893286-CAGA-C |
c.145_147del |
p.E49del |
InFrameDeletion |
3/27 |
- |
1 |
13-32893291-G-C |
c.145G>C |
p.E49Q |
Missense |
3/27 |
- |
7 |
13-32893291-AGAATCTGAACATAAAAACAACAAT-A |
c.145_168del |
p.E49_N56del |
InFrameDeletion |
3/27 |
- |
1 |
13-32893292-A-T |
c.146A>T |
p.E49V |
Missense |
3/27 |
- |
8 |
13-32893292-A-C |
c.146A>C |
p.E49A |
Missense |
3/27 |
- |
3 |
13-32893292-A-G |
c.146A>G |
p.E49G |
Missense |
3/27 |
- |
3 |
13-32893293-A-T |
c.147A>T |
p.E49D |
Missense |
3/27 |
- |
4 |
13-32893293-A-G |
c.147A>G |
p.E49= |
Synonymous |
3/27 |
- |
1 |
13-32893293-A-C |
c.147A>C |
p.E49D |
Missense |
3/27 |
- |
4 |
13-32893294-T-C |
c.148T>C |
p.S50P |
Missense |
3/27 |
- |
5 |
13-32893294-T-G |
c.148T>G |
p.S50A |
Missense |
3/27 |
- |
5 |
13-32893294-T-A |
c.148T>A |
p.S50T |
Missense |
3/27 |
- |
5 |
13-32893294-TC-CG |
c.148_149delinsCG |
p.S50R |
Missense |
3/27 |
- |
1 |
13-32893294-TC-AA |
c.148_149delinsAA |
p.S50N |
Missense |
3/27 |
- |
1 |
13-32893295-C-A |
c.149C>A |
p.S50Y |
Missense |
3/27 |
- |
4 |
13-32893295-C-G |
c.149C>G |
p.S50C |
Missense |
3/27 |
- |
3 |
13-32893295-C-T |
c.149C>T |
p.S50F |
Missense |
3/27 |
- |
4 |
13-32893296-T-G |
c.150T>G |
p.S50= |
Synonymous |
3/27 |
- |
2 |
13-32893296-T-C |
c.150T>C |
p.S50= |
Synonymous |
3/27 |
- |
2 |
13-32893296-T-A |
c.150T>A |
p.S50= |
Synonymous |
3/27 |
- |
2 |
13-32893297-G-A |
c.151G>A |
p.E51K |
Missense |
3/27 |
- |
8 |
13-32893297-TG-T |
c.151del |
p.E51Nfs*29 |
Frameshift |
3/27 |
- |
5 |
13-32893297-G-T |
c.151G>T |
p.E51* |
Nonsense |
3/27 |
- |
2 |
13-32893297-G-C |
c.151G>C |
p.E51Q |
Missense |
3/27 |
- |
3 |
13-32893298-A-G |
c.152A>G |
p.E51G |
Missense |
3/27 |
- |
5 |
13-32893298-A-C |
c.152A>C |
p.E51A |
Missense |
3/27 |
- |
3 |
13-32893298-A-T |
c.152A>T |
p.E51V |
Missense |
3/27 |
- |
3 |
13-32893299-A-C |
c.153A>C |
p.E51D |
Missense |
3/27 |
- |
3 |
13-32893299-A-T |
c.153A>T |
p.E51D |
Missense |
3/27 |
- |
3 |
13-32893300-C-T |
c.154C>T |
p.H52Y |
Missense |
3/27 |
- |
10 |
13-32893300-CA-AG |
c.154_155delinsAG |
p.H52S |
Missense |
3/27 |
- |
1 |
13-32893300-C-A |
c.154C>A |
p.H52N |
Missense |
3/27 |
- |
3 |
13-32893300-C-G |
c.154C>G |
p.H52D |
Missense |
3/27 |
- |
3 |
13-32893301-A-G |
c.155A>G |
p.H52R |
Missense |
3/27 |
- |
10 |
13-32893301-A-C |
c.155A>C |
p.H52P |
Missense |
3/27 |
- |
3 |
13-32893301-A-T |
c.155A>T |
p.H52L |
Missense |
3/27 |
- |
3 |
13-32893302-T-TGC |
c.156_157insGC |
p.K53Afs*28 |
Frameshift |
3/27 |
- |
1 |
13-32893302-AT-A |
c.156del |
p.H52Qfs*28 |
Frameshift |
3/27 |
- |
1 |
13-32893302-T-TGCCGGGCGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCCGGCTGAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCA |
c.156_157insGCCGGGCGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCCGGCTGAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCA |
p.K53Afs*9 |
Frameshift |
3/27 |
- |
2 |
13-32893302-T-A |
c.156T>A |
p.H52Q |
Missense |
3/27 |
- |
3 |
13-32893302-T-G |
c.156T>G |
p.H52Q |
Missense |
3/27 |
- |
3 |
13-32893303-A-C |
c.157A>C |
p.K53Q |
Missense |
3/27 |
- |
4 |
13-32893303-A-T |
c.157A>T |
p.K53* |
Nonsense |
3/27 |
- |
4 |
13-32893303-A-G |
c.157A>G |
p.K53E |
Missense |
3/27 |
- |
5 |
13-32893303-AA-GC |
c.157_158delinsGC |
p.K53A |
Missense |
3/27 |
- |
1 |
13-32893304-A-C |
c.158A>C |
p.K53T |
Missense |
3/27 |
- |
3 |
13-32893304-A-G |
c.158A>G |
p.K53R |
Missense |
3/27 |
- |
4 |
13-32893304-A-T |
c.158A>T |
p.K53I |
Missense |
3/27 |
- |
3 |
13-32893305-A-C |
c.159A>C |
p.K53N |
Missense |
3/27 |
- |
3 |
13-32893305-A-T |
c.159A>T |
p.K53N |
Missense |
3/27 |
- |
3 |
13-32893302-TAA-T |
c.160_161del |
p.N54Qfs*9 |
Frameshift |
3/27 |
- |
4 |
13-32893306-A-C |
c.160A>C |
p.N54H |
Missense |
3/27 |
- |
4 |
13-32893306-A-G |
c.160A>G |
p.N54D |
Missense |
3/27 |
- |
3 |
13-32893306-A-T |
c.160A>T |
p.N54Y |
Missense |
3/27 |
- |
3 |
13-32893302-T-TA |
c.161dup |
p.N54Kfs*10 |
Frameshift |
3/27 |
- |
68 |
13-32893302-TA-T |
c.161del |
p.N54Tfs*26 |
Frameshift |
3/27 |
- |
10 |
13-32893307-A-C |
c.161A>C |
p.N54T |
Missense |
3/27 |
- |
7 |
13-32893307-A-G |
c.161A>G |
p.N54S |
Missense |
3/27 |
- |
3 |
13-32893307-A-T |
c.161A>T |
p.N54I |
Missense |
3/27 |
- |
3 |
13-32893308-AC-A |
c.162del |
p.N54Kfs*26 |
Frameshift |
3/27 |
- |
4 |
13-32893308-C-A |
c.162C>A |
p.N54K |
Missense |
3/27 |
- |
4 |
13-32893308-C-G |
c.162C>G |
p.N54K |
Missense |
3/27 |
- |
4 |
13-32893309-A-T |
c.163A>T |
p.N55Y |
Missense |
3/27 |
- |
5 |
13-32893309-A-C |
c.163A>C |
p.N55H |
Missense |
3/27 |
- |
3 |
13-32893309-A-G |
c.163A>G |
p.N55D |
Missense |
3/27 |
- |
4 |
13-32893310-A-G |
c.164A>G |
p.N55S |
Missense |
3/27 |
- |
12 |
13-32893310-A-C |
c.164A>C |
p.N55T |
Missense |
3/27 |
- |
3 |
13-32893310-A-T |
c.164A>T |
p.N55I |
Missense |
3/27 |
- |
3 |
13-32893305-AAAC-A |
c.165_167del |
p.N56del |
InFrameDeletion |
3/27 |
- |
6 |
13-32893311-AC-A |
c.165del |
p.N55Kfs*25 |
Frameshift |
3/27 |
- |
1 |
13-32893311-C-T |
c.165C>T |
p.N55= |
Synonymous |
3/27 |
- |
2 |
13-32893311-C-A |
c.165C>A |
p.N55K |
Missense |
3/27 |
- |
3 |
13-32893311-C-G |
c.165C>G |
p.N55K |
Missense |
3/27 |
- |
3 |
13-32893312-A-C |
c.166A>C |
p.N56H |
Missense |
3/27 |
- |
3 |
13-32893312-A-G |
c.166A>G |
p.N56D |
Missense |
3/27 |
- |
5 |
13-32893312-A-T |
c.166A>T |
p.N56Y |
Missense |
3/27 |
- |
3 |
13-32893312-CAAT-C |
c.166_168del |
p.N56del |
InFrameDeletion |
3/27 |
- |
1 |
13-32893312-AA-GC |
c.166_167delinsGC |
p.N56A |
Missense |
3/27 |
- |
1 |
13-32893313-A-C |
c.167A>C |
p.N56T |
Missense |
3/27 |
- |
19 |
13-32893311-CA-C |
c.167del |
p.N56Ifs*24 |
Frameshift |
3/27 |
- |
1 |
13-32893313-A-G |
c.167A>G |
p.N56S |
Missense |
3/27 |
- |
5 |
13-32893313-A-T |
c.167A>T |
p.N56I |
Missense |
3/27 |
- |
3 |
13-32893311-C-CA |
c.167dup |
p.N56Kfs*8 |
Frameshift |
3/27 |
- |
1 |
13-32893314-T-A |
c.168T>A |
p.N56K |
Missense |
3/27 |
- |
3 |
13-32893314-T-G |
c.168T>G |
p.N56K |
Missense |
3/27 |
- |
3 |
13-32893315-TA-GC |
c.169_170delinsGC |
p.Y57A |
Missense |
3/27 |
- |
2 |
13-32893315-T-A |
c.169T>A |
p.Y57N |
Missense |
3/27 |
- |
3 |
13-32893315-T-C |
c.169T>C |
p.Y57H |
Missense |
3/27 |
- |
3 |
13-32893315-T-G |
c.169T>G |
p.Y57D |
Missense |
3/27 |
- |
3 |
13-32893315-T-TA |
c.170dup |
p.Y57* |
Nonsense |
3/27 |
- |
6 |
13-32893316-A-G |
c.170A>G |
p.Y57C |
Missense |
3/27 |
- |
4 |
13-32893316-A-C |
c.170A>C |
p.Y57S |
Missense |
3/27 |
- |
3 |
13-32893316-A-T |
c.170A>T |
p.Y57F |
Missense |
3/27 |
- |
3 |
13-32893314-T-TTAA |
c.170_171insATA |
p.N56_Y57ins* |
InFrameInsertion |
3/27 |
- |
2 |
13-32893315-T-TAGCAGC |
c.170_171insGCAGCA |
p.Y57delins* |
Nonsense |
3/27 |
- |
1 |
13-32893317-C-G |
c.171C>G |
p.Y57* |
Nonsense |
3/27 |
- |
12 |
13-32893317-AC-A |
c.171del |
p.Y57* |
Frameshift |
3/27 |
- |
5 |
13-32893317-C-T |
c.171C>T |
p.Y57= |
Synonymous |
3/27 |
- |
4 |
13-32893317-C-A |
c.171C>A |
p.Y57* |
Nonsense |
3/27 |
- |
9 |
13-32893313-ATTACGAACCAAACCTAT-A |
c.171_187del |
p.Y57* |
Frameshift |
3/27 |
- |
1 |
13-32893318-G-T |
c.172G>T |
p.E58* |
Nonsense |
3/27 |
- |
7 |
13-32893318-G-C |
c.172G>C |
p.E58Q |
Missense |
3/27 |
- |
4 |
13-32893318-G-A |
c.172G>A |
p.E58K |
Missense |
3/27 |
- |
18 |
13-32893319-A-C |
c.173A>C |
p.E58A |
Missense |
3/27 |
- |
4 |
13-32893319-A-T |
c.173A>T |
p.E58V |
Missense |
3/27 |
- |
5 |
13-32893319-A-G |
c.173A>G |
p.E58G |
Missense |
3/27 |
- |
3 |
13-32893320-A-G |
c.174A>G |
p.E58= |
Synonymous |
3/27 |
- |
3 |
13-32893320-A-C |
c.174A>C |
p.E58D |
Missense |
3/27 |
- |
4 |
13-32893320-A-T |
c.174A>T |
p.E58D |
Missense |
3/27 |
- |
3 |
13-32893321-C-G |
c.175C>G |
p.P59A |
Missense |
3/27 |
- |
21 |
13-32893321-CC-TA |
c.175_176delinsTA |
p.P59* |
Nonsense |
3/27 |
- |
3 |
13-32893321-C-A |
c.175C>A |
p.P59T |
Missense |
3/27 |
- |
7 |
13-32893321-C-T |
c.175C>T |
p.P59S |
Missense |
3/27 |
- |
4 |
13-32893319-AACC-A |
c.175_177del |
p.P59del |
InFrameDeletion |
3/27 |
- |
2 |
13-32893320-AC-A |
c.176del |
p.P59Qfs*21 |
Frameshift |
3/27 |
- |
7 |
13-32893322-C-T |
c.176C>T |
p.P59L |
Missense |
3/27 |
- |
7 |
13-32893322-CAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATA-AAACCTATTTAAAACTCCACAAAGGAAACC |
c.176_214delinsAAACCTATTTAAAACTCCACAAAGGAAACC |
p.P59_N72delinsQTYLKLHKGNH |
MultiAAMissense |
3/27 |
- |
3 |
13-32893322-C-A |
c.176C>A |
p.P59Q |
Missense |
3/27 |
- |
6 |
13-32893319-AACCAAACCTATTTAAAACTCC-A |
c.176_196del |
p.P59_P65del |
InFrameDeletion |
3/27 |
- |
3 |
13-32893322-C-G |
c.176C>G |
p.P59R |
Missense |
3/27 |
- |
7 |
13-32893324-A-C |
c.178A>C |
p.N60H |
Missense |
3/27 |
- |
3 |
13-32893324-A-G |
c.178A>G |
p.N60D |
Missense |
3/27 |
- |
4 |
13-32893324-A-T |
c.178A>T |
p.N60Y |
Missense |
3/27 |
- |
3 |
13-32893325-A-G |
c.179A>G |
p.N60S |
Missense |
3/27 |
- |
17 |
13-32893325-A-C |
c.179A>C |
p.N60T |
Missense |
3/27 |
- |
3 |
13-32893325-A-T |
c.179A>T |
p.N60I |
Missense |
3/27 |
- |
4 |
13-32893326-C-A |
c.180C>A |
p.N60K |
Missense |
3/27 |
- |
3 |
13-32893326-C-G |
c.180C>G |
p.N60K |
Missense |
3/27 |
- |
3 |
13-32893327-CCT-C |
c.181_182del |
p.L61Ifs*2 |
Frameshift |
3/27 |
- |
2 |
13-32893327-C-G |
c.181C>G |
p.L61V |
Missense |
3/27 |
- |
9 |
13-32893327-C-A |
c.181C>A |
p.L61I |
Missense |
3/27 |
- |
4 |
13-32893327-CT-GC |
c.181_182delinsGC |
p.L61A |
Missense |
3/27 |
- |
1 |
13-32893328-T-C |
c.182T>C |
p.L61P |
Missense |
3/27 |
- |
14 |
13-32893328-CT-C |
c.182del |
p.L61Hfs*19 |
Frameshift |
3/27 |
- |
2 |
13-32893328-T-A |
c.182T>A |
p.L61Q |
Missense |
3/27 |
- |
3 |
13-32893328-T-G |
c.182T>G |
p.L61R |
Missense |
3/27 |
- |
4 |
13-32893329-A-C |
c.183A>C |
p.L61= |
Synonymous |
3/27 |
- |
1 |
13-32893329-A-T |
c.183A>T |
p.L61= |
Synonymous |
3/27 |
- |
3 |
13-32893329-A-G |
c.183A>G |
p.L61= |
Synonymous |
3/27 |
- |
1 |
13-32893327-C-T |
c.181C>T |
p.L61= |
Synonymous |
3/27 |
- |
1 |
13-32893330-T-C |
c.184T>C |
p.F62L |
Missense |
3/27 |
- |
4 |
13-32893330-T-A |
c.184T>A |
p.F62I |
Missense |
3/27 |
- |
3 |
13-32893330-T-G |
c.184T>G |
p.F62V |
Missense |
3/27 |
- |
3 |
13-32893330-TTT-GAG |
c.184_186delinsGAG |
p.F62E |
Missense |
3/27 |
- |
2 |
13-32893331-T-A |
c.185T>A |
p.F62Y |
Missense |
3/27 |
- |
4 |
13-32893331-T-C |
c.185T>C |
p.F62S |
Missense |
3/27 |
- |
3 |
13-32893331-T-G |
c.185T>G |
p.F62C |
Missense |
3/27 |
- |
4 |
13-32893329-AT-A |
c.186del |
p.F62Lfs*18 |
Frameshift |
3/27 |
- |
5 |
13-32893332-T-A |
c.186T>A |
p.F62L |
Missense |
3/27 |
- |
3 |
13-32893332-T-G |
c.186T>G |
p.F62L |
Missense |
3/27 |
- |
3 |
13-32893332-TTA-T |
c.186_187del |
p.F62Lfs*10 |
Frameshift |
3/27 |
- |
1 |
13-32893333-A-C |
c.187A>C |
p.K63Q |
Missense |
3/27 |
- |
4 |
13-32893333-A-G |
c.187A>G |
p.K63E |
Missense |
3/27 |
- |
3 |
13-32893333-A-T |
c.187A>T |
p.K63* |
Nonsense |
3/27 |
- |
3 |
13-32893334-A-G |
c.188A>G |
p.K63R |
Missense |
3/27 |
- |
10 |
13-32893334-A-C |
c.188A>C |
p.K63T |
Missense |
3/27 |
- |
3 |
13-32893334-A-T |
c.188A>T |
p.K63I |
Missense |
3/27 |
- |
3 |
13-32893335-A-G |
c.189A>G |
p.K63= |
Synonymous |
3/27 |
- |
1 |
13-32893335-A-C |
c.189A>C |
p.K63N |
Missense |
3/27 |
- |
8 |
13-32893335-A-T |
c.189A>T |
p.K63N |
Missense |
3/27 |
- |
3 |
13-32893335-A-AATGATTCT |
c.190_191insTGATTCTA |
p.T64Mfs*19 |
Frameshift |
3/27 |
- |
1 |
13-32893332-T-TA |
c.190dup |
p.T64Nfs*9 |
Frameshift |
3/27 |
- |
3 |
13-32893336-A-G |
c.190A>G |
p.T64A |
Missense |
3/27 |
- |
4 |
13-32893336-A-C |
c.190A>C |
p.T64P |
Missense |
3/27 |
- |
5 |
13-32893336-A-T |
c.190A>T |
p.T64S |
Missense |
3/27 |
- |
6 |
13-32893332-TA-T |
c.190del |
p.T64Lfs*16 |
Frameshift |
3/27 |
- |
1 |
13-32893337-C-T |
c.191C>T |
p.T64I |
Missense |
3/27 |
- |
13 |
13-32893337-C-G |
c.191C>G |
p.T64S |
Missense |
3/27 |
- |
4 |
13-32893337-C-A |
c.191C>A |
p.T64N |
Missense |
3/27 |
- |
4 |
13-32893337-CT-TG |
c.191_192delinsTG |
p.T64M |
Missense |
3/27 |
- |
1 |
13-32893338-T-C |
c.192T>C |
p.T64= |
Synonymous |
3/27 |
- |
2 |
13-32893338-T-A |
c.192T>A |
p.T64= |
Synonymous |
3/27 |
- |
1 |
13-32893338-T-G |
c.192T>G |
p.T64= |
Synonymous |
3/27 |
- |
1 |
13-32893339-C-T |
c.193C>T |
p.P65S |
Missense |
3/27 |
- |
8 |
13-32893339-CCA-TTT |
c.193_195delinsTTT |
p.P65F |
Missense |
3/27 |
- |
1 |
13-32893339-C-A |
c.193C>A |
p.P65T |
Missense |
3/27 |
- |
4 |
13-32893339-C-G |
c.193C>G |
p.P65A |
Missense |
3/27 |
- |
4 |
13-32893340-C-G |
c.194C>G |
p.P65R |
Missense |
3/27 |
- |
5 |
13-32893340-C-A |
c.194C>A |
p.P65Q |
Missense |
3/27 |
- |
5 |
13-32893338-TC-T |
c.194del |
p.P65Hfs*15 |
Frameshift |
3/27 |
- |
4 |
13-32893340-C-T |
c.194C>T |
p.P65L |
Missense |
3/27 |
- |
6 |
13-32893340-CA-AT |
c.194_195delinsAT |
p.P65H |
Missense |
3/27 |
- |
1 |
13-32893341-A-T |
c.195A>T |
p.P65= |
Synonymous |
3/27 |
- |
1 |
13-32893341-A-G |
c.195A>G |
p.P65= |
Synonymous |
3/27 |
- |
1 |
13-32893341-A-C |
c.195A>C |
p.P65= |
Synonymous |
3/27 |
- |
1 |
13-32893342-C-T |
c.196C>T |
p.Q66* |
Nonsense |
3/27 |
- |
13 |
13-32893341-A-AC |
c.196dup |
p.Q66Pfs*7 |
Frameshift |
3/27 |
- |
1 |
13-32893342-C-A |
c.196C>A |
p.Q66K |
Missense |
3/27 |
- |
3 |
13-32893342-C-G |
c.196C>G |
p.Q66E |
Missense |
3/27 |
- |
3 |
13-32893342-CA-GC |
c.196_197delinsGC |
p.Q66A |
Missense |
3/27 |
- |
1 |
13-32893334-AAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTC-A |
c.196_234del |
p.Q66_P78del |
InFrameDeletion |
3/27 |
- |
1 |
13-32893343-A-T |
c.197A>T |
p.Q66L |
Missense |
3/27 |
- |
4 |
13-32893343-A-C |
c.197A>C |
p.Q66P |
Missense |
3/27 |
- |
6 |
13-32893343-A-G |
c.197A>G |
p.Q66R |
Missense |
3/27 |
- |
4 |
13-32893344-A-G |
c.198A>G |
p.Q66= |
Synonymous |
3/27 |
- |
9 |
13-32893344-A-C |
c.198A>C |
p.Q66H |
Missense |
3/27 |
- |
3 |
13-32893344-A-T |
c.198A>T |
p.Q66H |
Missense |
3/27 |
- |
3 |
13-32893345-A-T |
c.199A>T |
p.R67W |
Missense |
3/27 |
- |
6 |
13-32893345-A-G |
c.199A>G |
p.R67G |
Missense |
3/27 |
- |
6 |
13-32893344-AAGGAAACCATCTT-A |
c.200_212del |
p.R67Ifs*9 |
Frameshift |
3/27 |
- |
3 |
13-32893346-G-C |
c.200G>C |
p.R67T |
Missense |
3/27 |
- |
8 |
13-32893346-G-A |
c.200G>A |
p.R67K |
Missense |
3/27 |
- |
4 |
13-32893346-G-T |
c.200G>T |
p.R67M |
Missense |
3/27 |
- |
4 |
13-32893344-AAGGAAACCATCTTATAATC-A |
c.201_219del |
p.R67Sfs*7 |
Frameshift |
3/27 |
- |
2 |
13-32893347-G-C |
c.201G>C |
p.R67S |
Missense |
3/27 |
- |
3 |
13-32893347-G-T |
c.201G>T |
p.R67S |
Missense |
3/27 |
- |
3 |
13-32893346-G-GGA |
c.201_202dup |
p.K68Rfs*13 |
Frameshift |
3/27 |
- |
1 |
13-32893345-AG-A |
c.201del |
p.K68Nfs*12 |
Frameshift |
3/27 |
- |
1 |
13-32893348-A-T |
c.202A>T |
p.K68* |
Nonsense |
3/27 |
- |
2 |
13-32893348-A-G |
c.202A>G |
p.K68E |
Missense |
3/27 |
- |
5 |
13-32893348-A-C |
c.202A>C |
p.K68Q |
Missense |
3/27 |
- |
3 |
13-32893349-A-C |
c.203A>C |
p.K68T |
Missense |
3/27 |
- |
6 |
13-32893349-A-G |
c.203A>G |
p.K68R |
Missense |
3/27 |
- |
4 |
13-32893349-A-T |
c.203A>T |
p.K68I |
Missense |
3/27 |
- |
3 |
13-32893349-AA-TG |
c.203_204delinsTG |
p.K68M |
Missense |
3/27 |
- |
1 |
13-32893347-GAAACCATCTTATAATC-G |
c.203_218del |
p.K68Sfs*7 |
Frameshift |
3/27 |
- |
4 |
13-32893349-AA-GC |
c.203_204delinsGC |
p.K68S |
Missense |
3/27 |
- |
1 |
13-32893347-GA-G |
c.204del |
p.K68Nfs*12 |
Frameshift |
3/27 |
- |
6 |
13-32893350-A-G |
c.204A>G |
p.K68= |
Synonymous |
3/27 |
- |
1 |
13-32893350-A-C |
c.204A>C |
p.K68N |
Missense |
3/27 |
- |
4 |
13-32893350-A-T |
c.204A>T |
p.K68N |
Missense |
3/27 |
- |
4 |
13-32893347-G-GA |
c.204dup |
p.P69Tfs*4 |
Frameshift |
3/27 |
- |
3 |
13-32893351-C-T |
c.205C>T |
p.P69S |
Missense |
3/27 |
- |
5 |
13-32893351-C-A |
c.205C>A |
p.P69T |
Missense |
3/27 |
- |
10 |
13-32893351-C-G |
c.205C>G |
p.P69A |
Missense |
3/27 |
- |
3 |
13-32893352-C-T |
c.206C>T |
p.P69L |
Missense |
3/27 |
- |
5 |
13-32893352-C-A |
c.206C>A |
p.P69Q |
Missense |
3/27 |
- |
3 |
13-32893352-C-G |
c.206C>G |
p.P69R |
Missense |
3/27 |
- |
3 |
13-32893350-AC-A |
c.206del |
p.P69Hfs*11 |
Frameshift |
3/27 |
- |
1 |
13-32893353-A-T |
c.207A>T |
p.P69= |
Synonymous |
3/27 |
- |
1 |
13-32893353-A-G |
c.207A>G |
p.P69= |
Synonymous |
3/27 |
- |
1 |
13-32893353-A-C |
c.207A>C |
p.P69= |
Synonymous |
3/27 |
- |
1 |
13-32893354-T-C |
c.208T>C |
p.S70P |
Missense |
3/27 |
- |
5 |
13-32893354-TC-AA |
c.208_209delinsAA |
p.S70N |
Missense |
3/27 |
- |
1 |
13-32893354-T-A |
c.208T>A |
p.S70T |
Missense |
3/27 |
- |
7 |
13-32893354-T-G |
c.208T>G |
p.S70A |
Missense |
3/27 |
- |
4 |
13-32893355-C-T |
c.209C>T |
p.S70F |
Missense |
3/27 |
- |
6 |
13-32893355-C-A |
c.209C>A |
p.S70Y |
Missense |
3/27 |
- |
4 |
13-32893355-C-G |
c.209C>G |
p.S70C |
Missense |
3/27 |
- |
4 |
13-32893356-T-G |
c.210T>G |
p.S70= |
Synonymous |
3/27 |
- |
1 |
13-32893356-T-C |
c.210T>C |
p.S70= |
Synonymous |
3/27 |
- |
1 |
13-32893356-T-A |
c.210T>A |
p.S70= |
Synonymous |
3/27 |
- |
1 |
13-32893355-CT-C |
c.211del |
p.Y71Ifs*9 |
Frameshift |
3/27 |
- |
1 |
13-32893357-T-C |
c.211T>C |
p.Y71H |
Missense |
3/27 |
- |
5 |
13-32893357-T-A |
c.211T>A |
p.Y71N |
Missense |
3/27 |
- |
4 |
13-32893357-T-G |
c.211T>G |
p.Y71D |
Missense |
3/27 |
- |
4 |
13-32893357-TA-GC |
c.211_212delinsGC |
p.Y71A |
Missense |
3/27 |
- |
1 |
13-32893358-A-G |
c.212A>G |
p.Y71C |
Missense |
3/27 |
- |
5 |
13-32893358-A-C |
c.212A>C |
p.Y71S |
Missense |
3/27 |
- |
3 |
13-32893358-A-T |
c.212A>T |
p.Y71F |
Missense |
3/27 |
- |
3 |
13-32893357-T-TA |
c.212dup |
p.Y71* |
Nonsense |
3/27 |
- |
3 |
13-32893359-T-C |
c.213T>C |
p.Y71= |
Synonymous |
3/27 |
- |
2 |
13-32893359-T-A |
c.213T>A |
p.Y71* |
Nonsense |
3/27 |
- |
3 |
13-32893359-T-G |
c.213T>G |
p.Y71* |
Nonsense |
3/27 |
- |
2 |
13-32893360-A-C |
c.214A>C |
p.N72H |
Missense |
3/27 |
- |
4 |
13-32893360-A-T |
c.214A>T |
p.N72Y |
Missense |
3/27 |
- |
7 |
13-32893360-A-G |
c.214A>G |
p.N72D |
Missense |
3/27 |
- |
4 |
13-32893361-A-G |
c.215A>G |
p.N72S |
Missense |
3/27 |
- |
20 |
13-32893361-A-TT |
c.215delinsTT |
p.N72Ifs*29 |
Frameshift |
3/27 |
- |
4 |
13-32893359-TA-T |
c.215del |
p.N72Ifs*8 |
Frameshift |
3/27 |
- |
1 |
13-32893361-A-T |
c.215A>T |
p.N72I |
Missense |
3/27 |
- |
7 |
13-32893361-A-AG |
c.215_216insG |
p.N72Kfs*29 |
Frameshift |
3/27 |
- |
1 |
13-32893361-A-C |
c.215A>C |
p.N72T |
Missense |
3/27 |
- |
3 |
13-32893362-T-A |
c.216T>A |
p.N72K |
Missense |
3/27 |
- |
3 |
13-32893362-T-G |
c.216T>G |
p.N72K |
Missense |
3/27 |
- |
3 |
13-32893363-CA-GC |
c.217_218delinsGC |
p.Q73A |
Missense |
3/27 |
- |
2 |
13-32893363-C-T |
c.217C>T |
p.Q73* |
Nonsense |
3/27 |
- |
7 |
13-32893363-TC-T |
c.217del |
p.Q73Sfs*7 |
Frameshift |
3/27 |
- |
3 |
13-32893363-C-A |
c.217C>A |
p.Q73K |
Missense |
3/27 |
- |
3 |
13-32893363-C-G |
c.217C>G |
p.Q73E |
Missense |
3/27 |
- |
4 |
13-32893363-CA-TC |
c.217_218delinsTC |
p.Q73S |
Missense |
3/27 |
- |
1 |
13-32893362-T-TCGG |
c.217_218insGGC |
p.N72_Q73insR |
InFrameInsertion |
3/27 |
- |
1 |
13-32893364-A-C |
c.218A>C |
p.Q73P |
Missense |
3/27 |
- |
4 |
13-32893364-A-G |
c.218A>G |
p.Q73R |
Missense |
3/27 |
- |
5 |
13-32893364-A-T |
c.218A>T |
p.Q73L |
Missense |
3/27 |
- |
4 |
13-32893365-G-T |
c.219G>T |
p.Q73H |
Missense |
3/27 |
- |
4 |
13-32893365-G-C |
c.219G>C |
p.Q73H |
Missense |
3/27 |
- |
4 |
13-32893365-G-A |
c.219G>A |
p.Q73= |
Synonymous |
3/27 |
- |
1 |
13-32893366-C-A |
c.220C>A |
p.L74M |
Missense |
3/27 |
- |
3 |
13-32893366-C-G |
c.220C>G |
p.L74V |
Missense |
3/27 |
- |
3 |
13-32893367-T-C |
c.221T>C |
p.L74P |
Missense |
3/27 |
- |
6 |
13-32893367-T-A |
c.221T>A |
p.L74Q |
Missense |
3/27 |
- |
3 |
13-32893367-T-G |
c.221T>G |
p.L74R |
Missense |
3/27 |
- |
4 |
13-32893367-CT-C |
c.221del |
p.L74Rfs*6 |
Frameshift |
3/27 |
- |
3 |
13-32893368-G-A |
c.222G>A |
p.L74= |
Synonymous |
3/27 |
- |
5 |
13-32893368-G-T |
c.222G>T |
p.L74= |
Synonymous |
3/27 |
- |
2 |
13-32893368-G-C |
c.222G>C |
p.L74= |
Synonymous |
3/27 |
- |
2 |
13-32893366-C-T |
c.220C>T |
p.L74= |
Synonymous |
3/27 |
- |
8 |
13-32893369-G-C |
c.223G>C |
p.A75P |
Missense |
3/27 |
- |
57 |
13-32893369-GC-TG |
c.223_224delinsTG |
p.A75C |
Missense |
3/27 |
- |
3 |
13-32893369-GC-CA |
c.223_224delinsCA |
p.A75H |
Missense |
3/27 |
- |
1 |
13-32893369-GCT-TGG |
c.223_225delinsTGG |
p.A75W |
Missense |
3/27 |
- |
1 |
13-32893369-GCT-TAA |
c.223_225delinsTAA |
p.A75* |
Nonsense |
3/27 |
- |
2 |
13-32893369-G-A |
c.223G>A |
p.A75T |
Missense |
3/27 |
- |
4 |
13-32893369-G-T |
c.223G>T |
p.A75S |
Missense |
3/27 |
- |
5 |
13-32893369-GC-AT |
c.223_224delinsAT |
p.A75I |
Missense |
3/27 |
- |
1 |
13-32893369-G-GA |
c.223_224insA |
p.A75Dfs*26 |
Frameshift |
3/27 |
- |
3 |
13-32893369-GCT-AAG |
c.223_225delinsAAG |
p.A75K |
Missense |
3/27 |
- |
1 |
13-32893369-GC-CT |
c.223_224delinsCT |
p.A75L |
Missense |
3/27 |
- |
1 |
13-32893369-GCT-ATG |
c.223_225delinsATG |
p.A75M |
Missense |
3/27 |
- |
1 |
13-32893370-C-CA |
c.224_225insA |
p.S76Ffs*25 |
Frameshift |
3/27 |
- |
5 |
13-32893370-C-G |
c.224C>G |
p.A75G |
Missense |
3/27 |
- |
6 |
13-32893370-C-A |
c.224C>A |
p.A75D |
Missense |
3/27 |
- |
5 |
13-32893370-C-T |
c.224C>T |
p.A75V |
Missense |
3/27 |
- |
5 |
13-32893371-T-G |
c.225T>G |
p.A75= |
Synonymous |
3/27 |
- |
1 |
13-32893372-T-C |
c.226T>C |
p.S76P |
Missense |
3/27 |
- |
6 |
13-32893372-T-A |
c.226T>A |
p.S76T |
Missense |
3/27 |
- |
3 |
13-32893372-T-G |
c.226T>G |
p.S76A |
Missense |
3/27 |
- |
3 |
13-32893370-CT-C |
c.226del |
p.S76Qfs*4 |
Frameshift |
3/27 |
- |
1 |
13-32893373-C-A |
c.227C>A |
p.S76* |
Nonsense |
3/27 |
- |
5 |
13-32893373-C-G |
c.227C>G |
p.S76* |
Nonsense |
3/27 |
- |
14 |
13-32893373-C-T |
c.227C>T |
p.S76L |
Missense |
3/27 |
- |
3 |
13-32893373-TC-T |
c.227del |
p.S76* |
Frameshift |
3/27 |
- |
1 |
13-32893375-A-G |
c.229A>G |
p.T77A |
Missense |
3/27 |
- |
17 |
13-32893375-A-T |
c.229A>T |
p.T77S |
Missense |
3/27 |
- |
4 |
13-32893375-AAC-A |
c.229_230del |
p.T77Sfs*23 |
Frameshift |
3/27 |
- |
2 |
13-32893375-A-C |
c.229A>C |
p.T77P |
Missense |
3/27 |
- |
3 |
13-32893376-C-T |
c.230C>T |
p.T77I |
Missense |
3/27 |
- |
7 |
13-32893376-CT-TG |
c.230_231delinsTG |
p.T77M |
Missense |
3/27 |
- |
1 |
13-32893374-AACTCC-A |
c.230_234del |
p.T77Nfs*22 |
Frameshift |
3/27 |
- |
1 |
13-32893376-C-G |
c.230C>G |
p.T77S |
Missense |
3/27 |
- |
3 |
13-32893376-C-A |
c.230C>A |
p.T77N |
Missense |
3/27 |
- |
3 |
13-32893376-CT-GG |
c.230_231delinsGG |
p.T77R |
Missense |
3/27 |
- |
1 |
13-32893377-T-G |
c.231T>G |
p.T77= |
Synonymous |
3/27 |
- |
17 |
13-32893377-CTCCAATAATATTCAAAGAGCAA-C |
c.231_252del |
p.P78Gfs*2 |
Frameshift |
3/27 |
- |
3 |
13-32893375-ACT-A |
c.231_232del |
p.P78Nfs*22 |
Frameshift |
3/27 |
- |
1 |
13-32893377-T-A |
c.231T>A |
p.T77= |
Synonymous |
3/27 |
- |
3 |
13-32893377-T-C |
c.231T>C |
p.T77= |
Synonymous |
3/27 |
- |
3 |
13-32893378-C-T |
c.232C>T |
p.P78S |
Missense |
3/27 |
- |
11 |
13-32893378-C-A |
c.232C>A |
p.P78T |
Missense |
3/27 |
- |
4 |
13-32893378-C-G |
c.232C>G |
p.P78A |
Missense |
3/27 |
- |
3 |
13-32893378-CC-GG |
c.232_233inv |
p.P78G |
Missense |
3/27 |
- |
1 |
13-32893379-C-T |
c.233C>T |
p.P78L |
Missense |
3/27 |
- |
4 |
13-32893379-C-A |
c.233C>A |
p.P78Q |
Missense |
3/27 |
- |
4 |
13-32893379-C-G |
c.233C>G |
p.P78R |
Missense |
3/27 |
- |
3 |
13-32893379-CA-AT |
c.233_234delinsAT |
p.P78H |
Missense |
3/27 |
- |
1 |
13-32893380-AA-TC |
c.234_235delinsTC |
p.I79L |
Missense |
3/27 |
- |
1 |
13-32893381-A-G |
c.235A>G |
p.I79V |
Missense |
3/27 |
- |
10 |
13-32893381-A-C |
c.235A>C |
p.I79L |
Missense |
3/27 |
- |
3 |
13-32893381-A-T |
c.235A>T |
p.I79L |
Missense |
3/27 |
- |
3 |
13-32893382-T-C |
c.236T>C |
p.I79T |
Missense |
3/27 |
- |
5 |
13-32893382-T-A |
c.236T>A |
p.I79K |
Missense |
3/27 |
- |
3 |
13-32893382-T-G |
c.236T>G |
p.I79R |
Missense |
3/27 |
- |
3 |
13-32893382-TA-GC |
c.236_237delinsGC |
p.I79S |
Missense |
3/27 |
- |
1 |
13-32893383-A-G |
c.237A>G |
p.I79M |
Missense |
3/27 |
- |
5 |
13-32893384-A-G |
c.238A>G |
p.I80V |
Missense |
3/27 |
- |
8 |
13-32893384-A-T |
c.238A>T |
p.I80L |
Missense |
3/27 |
- |
7 |
13-32893384-A-C |
c.238A>C |
p.I80L |
Missense |
3/27 |
- |
3 |
13-32893385-ATATTC-A |
c.239_243del |
p.I80Kfs*19 |
Frameshift |
3/27 |
- |
3 |
13-32893385-T-C |
c.239T>C |
p.I80T |
Missense |
3/27 |
- |
5 |
13-32893385-T-A |
c.239T>A |
p.I80K |
Missense |
3/27 |
- |
3 |
13-32893385-T-G |
c.239T>G |
p.I80R |
Missense |
3/27 |
- |
3 |
13-32893386-A-G |
c.240A>G |
p.I80M |
Missense |
3/27 |
- |
13 |
13-32893386-A-C |
c.240A>C |
p.I80= |
Synonymous |
3/27 |
- |
1 |
13-32893386-A-T |
c.240A>T |
p.I80= |
Synonymous |
3/27 |
- |
2 |
13-32893383-AAT-A |
c.240_241del |
p.F81Qfs*19 |
Frameshift |
3/27 |
- |
1 |
13-32893387-T-A |
c.241T>A |
p.F81I |
Missense |
3/27 |
- |
14 |
13-32893387-T-G |
c.241T>G |
p.F81V |
Missense |
3/27 |
- |
11 |
13-32893387-TT-GC |
c.241_242delinsGC |
p.F81A |
Missense |
3/27 |
- |
2 |
13-32893387-T-C |
c.241T>C |
p.F81L |
Missense |
3/27 |
- |
6 |
13-32893388-T-C |
c.242T>C |
p.F81S |
Missense |
3/27 |
- |
4 |
13-32893388-T-A |
c.242T>A |
p.F81Y |
Missense |
3/27 |
- |
3 |
13-32893388-T-G |
c.242T>G |
p.F81C |
Missense |
3/27 |
- |
5 |
13-32893389-C-T |
c.243C>T |
p.F81= |
Synonymous |
3/27 |
- |
4 |
13-32893389-C-A |
c.243C>A |
p.F81L |
Missense |
3/27 |
- |
4 |
13-32893389-C-G |
c.243C>G |
p.F81L |
Missense |
3/27 |
- |
4 |
13-32893390-A-T |
c.244A>T |
p.K82* |
Nonsense |
3/27 |
- |
8 |
13-32893390-A-G |
c.244A>G |
p.K82E |
Missense |
3/27 |
- |
4 |
13-32893390-A-C |
c.244A>C |
p.K82Q |
Missense |
3/27 |
- |
6 |
13-32893391-AA-TG |
c.245_246delinsTG |
p.K82M |
Missense |
3/27 |
- |
1 |
13-32893391-A-G |
c.245A>G |
p.K82R |
Missense |
3/27 |
- |
4 |
13-32893391-A-C |
c.245A>C |
p.K82T |
Missense |
3/27 |
- |
3 |
13-32893391-A-T |
c.245A>T |
p.K82I |
Missense |
3/27 |
- |
3 |
13-32893389-C-CA |
c.246dup |
p.E83Rfs*18 |
Frameshift |
3/27 |
- |
5 |
13-32893392-A-C |
c.246A>C |
p.K82N |
Missense |
3/27 |
- |
3 |
13-32893392-A-T |
c.246A>T |
p.K82N |
Missense |
3/27 |
- |
3 |
13-32893389-CA-C |
c.246del |
p.E83Sfs*4 |
Frameshift |
3/27 |
- |
3 |
13-32893393-G-C |
c.247G>C |
p.E83Q |
Missense |
3/27 |
- |
9 |
13-32893393-G-A |
c.247G>A |
p.E83K |
Missense |
3/27 |
- |
6 |
13-32893393-G-T |
c.247G>T |
p.E83* |
Nonsense |
3/27 |
- |
7 |
13-32893394-A-T |
c.248A>T |
p.E83V |
Missense |
3/27 |
- |
4 |
13-32893394-A-G |
c.248A>G |
p.E83G |
Missense |
3/27 |
- |
5 |
13-32893394-A-C |
c.248A>C |
p.E83A |
Missense |
3/27 |
- |
5 |
13-32893391-AAG-A |
c.248_249del |
p.E83Afs*17 |
Frameshift |
3/27 |
- |
2 |
13-32893395-AG-A |
c.249del |
p.E83Dfs*4 |
Frameshift |
3/27 |
- |
1 |
13-32893395-G-C |
c.249G>C |
p.E83D |
Missense |
3/27 |
- |
5 |
13-32893395-G-T |
c.249G>T |
p.E83D |
Missense |
3/27 |
- |
3 |
13-32893395-G-A |
c.249G>A |
p.E83= |
Synonymous |
3/27 |
- |
1 |
13-32893396-C-T |
c.250C>T |
p.Q84* |
Nonsense |
3/27 |
- |
26 |
13-32893396-C-G |
c.250C>G |
p.Q84E |
Missense |
3/27 |
- |
11 |
13-32893396-GC-G |
c.250del |
p.Q84Kfs*3 |
Frameshift |
3/27 |
- |
4 |
13-32893396-C-A |
c.250C>A |
p.Q84K |
Missense |
3/27 |
- |
4 |
13-32893397-A-G |
c.251A>G |
p.Q84R |
Missense |
3/27 |
- |
5 |
13-32893397-A-C |
c.251A>C |
p.Q84P |
Missense |
3/27 |
- |
4 |
13-32893397-A-T |
c.251A>T |
p.Q84L |
Missense |
3/27 |
- |
2 |
13-32893398-A-G |
c.252A>G |
p.Q84= |
Synonymous |
3/27 |
- |
1 |
13-32893398-A-T |
c.252A>T |
p.Q84H |
Missense |
3/27 |
- |
4 |
13-32893398-A-C |
c.252A>C |
p.Q84H |
Missense |
3/27 |
- |
3 |
13-32893399-G-T |
c.253G>T |
p.G85W |
Missense |
3/27 |
- |
4 |
13-32893399-G-A |
c.253G>A |
p.G85R |
Missense |
3/27 |
- |
5 |
13-32893399-G-C |
c.253G>C |
p.G85R |
Missense |
3/27 |
- |
5 |
13-32893399-GGG-TGT |
c.253_255delinsTGT |
p.G85C |
Missense |
3/27 |
- |
1 |
13-32893400-GG-AC |
c.254_255delinsAC |
p.G85D |
Missense |
3/27 |
- |
1 |
13-32893400-G-A |
c.254G>A |
p.G85E |
Missense |
3/27 |
- |
3 |
13-32893400-G-C |
c.254G>C |
p.G85A |
Missense |
3/27 |
- |
3 |
13-32893400-G-T |
c.254G>T |
p.G85V |
Missense |
3/27 |
- |
3 |
13-32893401-G-T |
c.255G>T |
p.G85= |
Synonymous |
3/27 |
- |
2 |
13-32893401-G-A |
c.255G>A |
p.G85= |
Synonymous |
3/27 |
- |
2 |
13-32893401-G-C |
c.255G>C |
p.G85= |
Synonymous |
3/27 |
- |
2 |
13-32893402-CTG-TTT |
c.256_258delinsTTT |
p.L86F |
Missense |
3/27 |
- |
1 |
13-32893402-C-G |
c.256C>G |
p.L86V |
Missense |
3/27 |
- |
4 |
13-32893402-GC-G |
c.256del |
p.L86* |
Frameshift |
3/27 |
- |
1 |
13-32893402-C-A |
c.256C>A |
p.L86M |
Missense |
3/27 |
- |
3 |
13-32893403-T-C |
c.257T>C |
p.L86P |
Missense |
3/27 |
- |
12 |
13-32893403-T-A |
c.257T>A |
p.L86Q |
Missense |
3/27 |
- |
3 |
13-32893403-T-G |
c.257T>G |
p.L86R |
Missense |
3/27 |
- |
3 |
13-32893404-G-T |
c.258G>T |
p.L86= |
Synonymous |
3/27 |
- |
1 |
13-32893404-G-A |
c.258G>A |
p.L86= |
Synonymous |
3/27 |
- |
1 |
13-32893404-G-C |
c.258G>C |
p.L86= |
Synonymous |
3/27 |
- |
1 |
13-32893402-C-T |
c.256C>T |
p.L86= |
Synonymous |
3/27 |
- |
1 |
13-32893405-A-G |
c.259A>G |
p.T87A |
Missense |
3/27 |
- |
4 |
13-32893405-A-C |
c.259A>C |
p.T87P |
Missense |
3/27 |
- |
3 |
13-32893405-A-T |
c.259A>T |
p.T87S |
Missense |
3/27 |
- |
4 |
13-32893406-C-G |
c.260C>G |
p.T87S |
Missense |
3/27 |
- |
4 |
13-32893406-C-A |
c.260C>A |
p.T87N |
Missense |
3/27 |
- |
3 |
13-32893406-C-T |
c.260C>T |
p.T87I |
Missense |
3/27 |
- |
5 |
13-32893407-T-C |
c.261T>C |
p.T87= |
Synonymous |
3/27 |
- |
1 |
13-32893407-T-G |
c.261T>G |
p.T87= |
Synonymous |
3/27 |
- |
1 |
13-32893405-ACT-A |
c.262_263del |
p.L88Afs*12 |
Frameshift |
3/27 |
- |
20 |
13-32893408-CT-GC |
c.262_263delinsGC |
p.L88A |
Missense |
3/27 |
- |
1 |
13-32893408-CT-TA |
c.262_263delinsTA |
p.L88* |
Nonsense |
3/27 |
- |
1 |
13-32893408-C-G |
c.262C>G |
p.L88V |
Missense |
3/27 |
- |
5 |
13-32893408-C-A |
c.262C>A |
p.L88M |
Missense |
3/27 |
- |
3 |
13-32893408-CTG-TTT |
c.262_264delinsTTT |
p.L88F |
Missense |
3/27 |
- |
1 |
13-32893409-CT-C |
c.263del |
p.L88Rfs*8 |
Frameshift |
3/27 |
- |
6 |
13-32893409-T-G |
c.263T>G |
p.L88R |
Missense |
3/27 |
- |
9 |
13-32893409-T-A |
c.263T>A |
p.L88Q |
Missense |
3/27 |
- |
3 |
13-32893409-T-C |
c.263T>C |
p.L88P |
Missense |
3/27 |
- |
4 |
13-32893410-G-T |
c.264G>T |
p.L88= |
Synonymous |
3/27 |
- |
2 |
13-32893410-G-A |
c.264G>A |
p.L88= |
Synonymous |
3/27 |
- |
2 |
13-32893410-G-C |
c.264G>C |
p.L88= |
Synonymous |
3/27 |
- |
2 |
13-32893408-C-T |
c.262C>T |
p.L88= |
Synonymous |
3/27 |
- |
2 |
13-32893411-CCG-AAC |
c.265_267delinsAAC |
p.P89N |
Missense |
3/27 |
- |
1 |
13-32893411-C-A |
c.265C>A |
p.P89T |
Missense |
3/27 |
- |
3 |
13-32893411-C-G |
c.265C>G |
p.P89A |
Missense |
3/27 |
- |
3 |
13-32893411-C-T |
c.265C>T |
p.P89S |
Missense |
3/27 |
- |
3 |
13-32893412-C-T |
c.266C>T |
p.P89L |
Missense |
3/27 |
- |
19 |
13-32893410-GC-G |
c.266del |
p.P89Rfs*7 |
Frameshift |
3/27 |
- |
5 |
13-32893412-C-A |
c.266C>A |
p.P89Q |
Missense |
3/27 |
- |
8 |
13-32893412-C-G |
c.266C>G |
p.P89R |
Missense |
3/27 |
- |
3 |
13-32893413-G-A |
c.267G>A |
p.P89= |
Synonymous |
3/27 |
- |
5 |
13-32893413-G-T |
c.267G>T |
p.P89= |
Synonymous |
3/27 |
- |
2 |
13-32893413-G-C |
c.267G>C |
p.P89= |
Synonymous |
3/27 |
- |
1 |
13-32893411-CCG-C |
c.267_268del |
p.L90Vfs*10 |
Frameshift |
3/27 |
- |
3 |
13-32893414-C-A |
c.268C>A |
p.L90M |
Missense |
3/27 |
- |
3 |
13-32893414-C-G |
c.268C>G |
p.L90V |
Missense |
3/27 |
- |
5 |
13-32893414-CTG-TTT |
c.268_270delinsTTT |
p.L90F |
Missense |
3/27 |
- |
1 |
13-32893415-T-C |
c.269T>C |
p.L90P |
Missense |
3/27 |
- |
6 |
13-32893415-T-A |
c.269T>A |
p.L90Q |
Missense |
3/27 |
- |
3 |
13-32893415-T-G |
c.269T>G |
p.L90R |
Missense |
3/27 |
- |
3 |
13-32893416-G-T |
c.270G>T |
p.L90= |
Synonymous |
3/27 |
- |
1 |
13-32893416-G-A |
c.270G>A |
p.L90= |
Synonymous |
3/27 |
- |
1 |
13-32893416-G-C |
c.270G>C |
p.L90= |
Synonymous |
3/27 |
- |
1 |
13-32893414-C-T |
c.268C>T |
p.L90= |
Synonymous |
3/27 |
- |
2 |
13-32893417-T-C |
c.271T>C |
p.Y91H |
Missense |
3/27 |
- |
4 |
13-32893417-GTA-G |
c.271_272del |
p.Y91Pfs*9 |
Frameshift |
3/27 |
- |
7 |
13-32893417-T-A |
c.271T>A |
p.Y91N |
Missense |
3/27 |
- |
3 |
13-32893417-T-G |
c.271T>G |
p.Y91D |
Missense |
3/27 |
- |
3 |
13-32893417-TA-CC |
c.271_272delinsCC |
p.Y91P |
Missense |
3/27 |
- |
1 |
13-32893418-A-G |
c.272A>G |
p.Y91C |
Missense |
3/27 |
- |
7 |
13-32893418-A-C |
c.272A>C |
p.Y91S |
Missense |
3/27 |
- |
4 |
13-32893418-A-T |
c.272A>T |
p.Y91F |
Missense |
3/27 |
- |
3 |
13-32893418-A-TT |
c.272delinsTT |
p.Y91Ffs*10 |
Frameshift |
3/27 |
- |
1 |
13-32893419-C-G |
c.273C>G |
p.Y91* |
Nonsense |
3/27 |
- |
8 |
13-32893419-C-A |
c.273C>A |
p.Y91* |
Nonsense |
3/27 |
- |
8 |
13-32893419-C-T |
c.273C>T |
p.Y91= |
Synonymous |
3/27 |
- |
4 |
13-32893413-GCTGTACCAATCTC-G |
c.273_285del |
p.Y91* |
Frameshift |
3/27 |
- |
1 |
13-32893420-C-T |
c.274C>T |
p.Q92* |
Nonsense |
3/27 |
- |
12 |
13-32893418-A-AC |
c.274dup |
p.Q92Pfs*9 |
Frameshift |
3/27 |
- |
1 |
13-32893420-C-A |
c.274C>A |
p.Q92K |
Missense |
3/27 |
- |
3 |
13-32893420-C-G |
c.274C>G |
p.Q92E |
Missense |
3/27 |
- |
3 |
13-32893418-AC-A |
c.274del |
p.Q92Nfs*4 |
Frameshift |
3/27 |
- |
3 |
13-32893420-CA-GT |
c.274_275delinsGT |
p.Q92V |
Missense |
3/27 |
- |
1 |
13-32893420-CAA-AAC |
c.274_276delinsAAC |
p.Q92N |
Missense |
3/27 |
- |
1 |
13-32893421-A-G |
c.275A>G |
p.Q92R |
Missense |
3/27 |
- |
6 |
13-32893421-A-C |
c.275A>C |
p.Q92P |
Missense |
3/27 |
- |
3 |
13-32893421-A-T |
c.275A>T |
p.Q92L |
Missense |
3/27 |
- |
3 |
13-32893421-A-ACCAT |
c.275_276insCCAT |
p.Q92Hfs*10 |
Frameshift |
3/27 |
- |
3 |
13-32893422-A-G |
c.276A>G |
p.Q92= |
Synonymous |
3/27 |
- |
2 |
13-32893420-C-CA |
c.276dup |
p.S93Ifs*8 |
Frameshift |
3/27 |
- |
14 |
13-32893422-A-C |
c.276A>C |
p.Q92H |
Missense |
3/27 |
- |
5 |
13-32893422-A-T |
c.276A>T |
p.Q92H |
Missense |
3/27 |
- |
5 |
13-32893423-T-C |
c.277T>C |
p.S93P |
Missense |
3/27 |
- |
11 |
13-32893423-AT-A |
c.277del |
p.S93Lfs*3 |
Frameshift |
3/27 |
- |
1 |
13-32893423-T-G |
c.277T>G |
p.S93A |
Missense |
3/27 |
- |
11 |
13-32893423-T-A |
c.277T>A |
p.S93T |
Missense |
3/27 |
- |
3 |
13-32893424-C-T |
c.278C>T |
p.S93F |
Missense |
3/27 |
- |
5 |
13-32893424-C-A |
c.278C>A |
p.S93Y |
Missense |
3/27 |
- |
3 |
13-32893424-C-G |
c.278C>G |
p.S93C |
Missense |
3/27 |
- |
3 |
13-32893424-CT-GG |
c.278_279delinsGG |
p.S93W |
Missense |
3/27 |
- |
1 |
13-32893425-T-G |
c.279T>G |
p.S93= |
Synonymous |
3/27 |
- |
1 |
13-32893425-T-C |
c.279T>C |
p.S93= |
Synonymous |
3/27 |
- |
1 |
13-32893425-T-A |
c.279T>A |
p.S93= |
Synonymous |
3/27 |
- |
1 |
13-32893426-C-T |
c.280C>T |
p.P94S |
Missense |
3/27 |
- |
23 |
13-32893426-C-A |
c.280C>A |
p.P94T |
Missense |
3/27 |
- |
3 |
13-32893426-C-G |
c.280C>G |
p.P94A |
Missense |
3/27 |
- |
4 |
13-32893426-CCT-TAA |
c.280_282delinsTAA |
p.P94* |
Nonsense |
3/27 |
- |
1 |
13-32893425-TC-T |
c.281del |
p.P94Lfs*2 |
Frameshift |
3/27 |
- |
3 |
13-32893427-C-A |
c.281C>A |
p.P94H |
Missense |
3/27 |
- |
5 |
13-32893427-C-G |
c.281C>G |
p.P94R |
Missense |
3/27 |
- |
3 |
13-32893427-C-T |
c.281C>T |
p.P94L |
Missense |
3/27 |
- |
6 |
13-32893428-T-G |
c.282T>G |
p.P94= |
Synonymous |
3/27 |
- |
3 |
13-32893428-T-A |
c.282T>A |
p.P94= |
Synonymous |
3/27 |
- |
3 |
13-32893428-T-C |
c.282T>C |
p.P94= |
Synonymous |
3/27 |
- |
3 |
13-32893429-G-A |
c.283G>A |
p.V95I |
Missense |
3/27 |
- |
10 |
13-32893429-TGTAA-T |
c.283_286del |
p.V95Kfs*3 |
Frameshift |
3/27 |
- |
1 |
13-32893429-G-C |
c.283G>C |
p.V95L |
Missense |
3/27 |
- |
3 |
13-32893429-G-T |
c.283G>T |
p.V95L |
Missense |
3/27 |
- |
3 |
13-32893429-GTA-TTT |
c.283_285delinsTTT |
p.V95F |
Missense |
3/27 |
- |
1 |
13-32893429-GT-AC |
c.283_284inv |
p.V95T |
Missense |
3/27 |
- |
1 |
13-32893429-TGTA-T |
c.283_285del |
p.V95del |
InFrameDeletion |
3/27 |
- |
1 |
13-32893430-T-A |
c.284T>A |
p.V95E |
Missense |
3/27 |
- |
3 |
13-32893430-T-C |
c.284T>C |
p.V95A |
Missense |
3/27 |
- |
3 |
13-32893430-T-G |
c.284T>G |
p.V95G |
Missense |
3/27 |
- |
3 |
13-32893430-TA-AC |
c.284_285delinsAC |
p.V95D |
Missense |
3/27 |
- |
1 |
13-32893432-A-C |
c.286A>C |
p.K96Q |
Missense |
3/27 |
- |
3 |
13-32893432-A-G |
c.286A>G |
p.K96E |
Missense |
3/27 |
- |
3 |
13-32893432-A-T |
c.286A>T |
p.K96* |
Nonsense |
3/27 |
- |
1 |
13-32893433-A-C |
c.287A>C |
p.K96T |
Missense |
3/27 |
- |
4 |
13-32893433-A-G |
c.287A>G |
p.K96R |
Missense |
3/27 |
- |
3 |
13-32893433-A-T |
c.287A>T |
p.K96I |
Missense |
3/27 |
- |
3 |
13-32893434-A-C |
c.288A>C |
p.K96N |
Missense |
3/27 |
- |
3 |
13-32893434-A-T |
c.288A>T |
p.K96N |
Missense |
3/27 |
- |
4 |
13-32893435-G-T |
c.289G>T |
p.E97* |
Nonsense |
3/27 |
- |
33 |
13-32893435-G-C |
c.289G>C |
p.E97Q |
Missense |
3/27 |
- |
6 |
13-32893435-G-A |
c.289G>A |
p.E97K |
Missense |
3/27 |
- |
3 |
13-32893435-GAA-TGT |
c.289_291delinsTGT |
p.E97C |
Missense |
3/27 |
- |
1 |
13-32893432-AAAG-A |
c.289_291del |
p.E97del |
InFrameDeletion |
3/27 |
- |
1 |
13-32893436-A-T |
c.290A>T |
p.E97V |
Missense |
3/27 |
- |
5 |
13-32893436-A-C |
c.290A>C |
p.E97A |
Missense |
3/27 |
- |
3 |
13-32893436-A-G |
c.290A>G |
p.E97G |
Missense |
3/27 |
- |
3 |
13-32893437-A-T |
c.291A>T |
p.E97D |
Missense |
3/27 |
- |
7 |
13-32893437-A-C |
c.291A>C |
p.E97D |
Missense |
3/27 |
- |
3 |
13-32893433-AAGAATT-A |
c.291_296del |
p.E97_L98del |
InFrameDeletion |
3/27 |
- |
3 |
13-32893437-A-G |
c.291A>G |
p.E97= |
Synonymous |
3/27 |
- |
1 |
13-32893438-T-A |
c.292T>A |
p.L98I |
Missense |
3/27 |
- |
6 |
13-32893438-T-G |
c.292T>G |
p.L98V |
Missense |
3/27 |
- |
7 |
13-32893439-T-G |
c.293T>G |
p.L98* |
Nonsense |
3/27 |
- |
5 |
13-32893439-T-A |
c.293T>A |
p.L98* |
Nonsense |
3/27 |
- |
1 |
13-32893439-T-C |
c.293T>C |
p.L98S |
Missense |
3/27 |
- |
7 |
13-32893440-A-G |
c.294A>G |
p.L98= |
Synonymous |
3/27 |
- |
2 |
13-32893440-A-C |
c.294A>C |
p.L98F |
Missense |
3/27 |
- |
5 |
13-32893440-A-T |
c.294A>T |
p.L98F |
Missense |
3/27 |
- |
8 |
13-32893441-G-A |
c.295G>A |
p.D99N |
Missense |
3/27 |
- |
5 |
13-32893441-G-C |
c.295G>C |
p.D99H |
Missense |
3/27 |
- |
3 |
13-32893441-G-T |
c.295G>T |
p.D99Y |
Missense |
3/27 |
- |
3 |
13-32893442-A-G |
c.296A>G |
p.D99G |
Missense |
3/27 |
- |
7 |
13-32893442-A-C |
c.296A>C |
p.D99A |
Missense |
3/27 |
- |
3 |
13-32893442-A-T |
c.296A>T |
p.D99V |
Missense |
3/27 |
- |
3 |
13-32893443-T-C |
c.297T>C |
p.D99= |
Synonymous |
3/27 |
- |
1 |
13-32893443-T-A |
c.297T>A |
p.D99E |
Missense |
3/27 |
- |
3 |
13-32893443-T-G |
c.297T>G |
p.D99E |
Missense |
3/27 |
- |
3 |
13-32893444-A-T |
c.298A>T |
p.K100* |
Nonsense |
3/27 |
- |
10 |
13-32893444-A-G |
c.298A>G |
p.K100E |
Missense |
3/27 |
- |
9 |
13-32893444-A-C |
c.298A>C |
p.K100Q |
Missense |
3/27 |
- |
3 |
13-32893444-TAAA-T |
c.298_300del |
p.K100del |
InFrameDeletion |
3/27 |
- |
1 |
13-32893445-A-G |
c.299A>G |
p.K100R |
Missense |
3/27 |
- |
4 |
13-32893445-A-C |
c.299A>C |
p.K100T |
Missense |
3/27 |
- |
3 |
13-32893445-A-T |
c.299A>T |
p.K100I |
Missense |
3/27 |
- |
3 |
13-32893446-A-C |
c.300A>C |
p.K100N |
Missense |
3/27 |
- |
3 |
13-32893446-A-T |
c.300A>T |
p.K100N |
Missense |
3/27 |
- |
3 |
13-32893447-T-G |
c.301T>G |
p.F101V |
Missense |
3/27 |
- |
4 |
13-32893447-T-A |
c.301T>A |
p.F101I |
Missense |
3/27 |
- |
3 |
13-32893447-T-C |
c.301T>C |
p.F101L |
Missense |
3/27 |
- |
3 |
13-32893448-T-A |
c.302T>A |
p.F101Y |
Missense |
3/27 |
- |
3 |
13-32893448-T-C |
c.302T>C |
p.F101S |
Missense |
3/27 |
- |
3 |
13-32893448-T-G |
c.302T>G |
p.F101C |
Missense |
3/27 |
- |
4 |
13-32893448-TCA-CC |
c.302_304delinsCC |
p.F101Sfs*3 |
Frameshift |
3/27 |
- |
1 |
13-32893449-C-A |
c.303C>A |
p.F101L |
Missense |
3/27 |
- |
8 |
13-32893449-C-G |
c.303C>G |
p.F101L |
Missense |
3/27 |
- |
3 |
13-32893449-C-T |
c.303C>T |
p.F101= |
Synonymous |
3/27 |
- |
1 |
13-32893450-A-T |
c.304A>T |
p.K102* |
Nonsense |
3/27 |
- |
4 |
13-32893450-A-C |
c.304A>C |
p.K102Q |
Missense |
3/27 |
- |
3 |
13-32893450-A-G |
c.304A>G |
p.K102E |
Missense |
3/27 |
- |
3 |
13-32893451-A-G |
c.305A>G |
p.K102R |
Missense |
3/27 |
- |
7 |
13-32893451-A-C |
c.305A>C |
p.K102T |
Missense |
3/27 |
- |
3 |
13-32893451-A-T |
c.305A>T |
p.K102I |
Missense |
3/27 |
- |
3 |
13-32893449-C-CA |
c.306dup |
p.L103Ifs*10 |
Frameshift |
3/27 |
- |
5 |
13-32893449-CA-C |
c.306del |
p.K102Nfs*2 |
Frameshift |
3/27 |
- |
3 |
13-32893452-A-C |
c.306A>C |
p.K102N |
Missense |
3/27 |
- |
4 |
13-32893452-A-T |
c.306A>T |
p.K102N |
Missense |
3/27 |
- |
4 |
13-32893453-T-A |
c.307T>A |
p.L103I |
Missense |
3/27 |
- |
6 |
13-32893453-T-C |
c.307T>C |
p.L103= |
Synonymous |
3/27 |
- |
1 |
13-32893455-A-G |
c.309A>G |
p.L103= |
Synonymous |
3/27 |
- |
2 |
13-32893453-T-G |
c.307T>G |
p.L103V |
Missense |
3/27 |
- |
3 |
13-32893454-T-C |
c.308T>C |
p.L103S |
Missense |
3/27 |
- |
4 |
13-32893454-T-A |
c.308T>A |
p.L103* |
Nonsense |
3/27 |
- |
1 |
13-32893454-T-G |
c.308T>G |
p.L103* |
Nonsense |
3/27 |
- |
1 |
13-32893452-A-AT |
c.308dup |
p.L103Ffs*10 |
Frameshift |
3/27 |
- |
3 |
13-32893455-A-C |
c.309A>C |
p.L103F |
Missense |
3/27 |
- |
3 |
13-32893455-A-T |
c.309A>T |
p.L103F |
Missense |
3/27 |
- |
4 |
13-32893456-G-A |
c.310G>A |
p.D104N |
Missense |
3/27 |
- |
5 |
13-32893456-G-C |
c.310G>C |
p.D104H |
Missense |
3/27 |
- |
6 |
13-32893455-A-AG |
c.310dup |
p.D104Gfs*9 |
Frameshift |
3/27 |
- |
1 |
13-32893456-G-T |
c.310G>T |
p.D104Y |
Missense |
3/27 |
- |
3 |
13-32893456-AGAC-A |
c.310_312del |
p.D104del |
InFrameDeletion |
3/27 |
- |
1 |
13-32893457-A-C |
c.311A>C |
p.D104A |
Missense |
3/27 |
- |
3 |
13-32893457-A-G |
c.311A>G |
p.D104G |
Missense |
3/27 |
- |
3 |
13-32893457-A-T |
c.311A>T |
p.D104V |
Missense |
3/27 |
- |
4 |
13-32893458-C-T |
c.312C>T |
p.D104= |
Synonymous |
3/27 |
- |
1 |
13-32893458-C-G |
c.312C>G |
p.D104E |
Missense |
3/27 |
- |
5 |
13-32893458-C-A |
c.312C>A |
p.D104E |
Missense |
3/27 |
- |
4 |
13-32893459-CTTA-C |
c.313_315del |
p.L105del |
InFrameDeletion |
3/27 |
- |
1 |
13-32893459-T-G |
c.313T>G |
p.L105V |
Missense |
3/27 |
- |
4 |
13-32893459-T-A |
c.313T>A |
p.L105I |
Missense |
3/27 |
- |
3 |
13-32893458-C-CTAA |
c.313_314insAAT |
p.D104_L105ins* |
InFrameInsertion |
3/27 |
- |
2 |
13-32893459-TT-GC |
c.313_314delinsGC |
p.L105A |
Missense |
3/27 |
- |
1 |
13-32893460-T-G |
c.314T>G |
p.L105* |
Nonsense |
3/27 |
- |
14 |
13-32893460-T-C |
c.314T>C |
p.L105S |
Missense |
3/27 |
- |
4 |
13-32893460-T-A |
c.314T>A |
p.L105* |
Nonsense |
3/27 |
- |
5 |
13-32893458-CT-C |
c.314del |
p.L105* |
Frameshift |
3/27 |
- |
3 |
13-32893460-T-TA |
c.315dup |
p.G106Rfs*7 |
SpliceDonorInsertion |
3/27 |
- |
1 |
13-32893461-A-AC |
c.315_316insC |
p.G106Rfs*7 |
SpliceDonorInsertion |
3/27 |
- |
1 |
13-32893461-A-AT |
c.315_316insT |
p.G106Wfs*7 |
SpliceDonorInsertion |
3/27 |
- |
1 |
13-32893461-A-C |
c.315A>C |
p.L105F |
Missense |
3/27 |
- |
3 |
13-32893461-A-T |
c.315A>T |
p.L105F |
Missense |
3/27 |
- |
3 |
13-32893462-G-A |
c.316G>A |
p.G106R |
Missense |
3/27 |
- |
12 |
13-32893462-G-C |
c.316G>C |
p.G106R |
Missense |
3/27 |
- |
7 |
13-32893462-G-T |
c.316G>T |
p.G106* |
Nonsense |
3/27 |
- |
2 |
13-32893459-TTAGG-T |
c.316_316+3del |
- |
SpliceDonorDeletion |
3/27 |
3/26 |
1 |
13-32893463-G-T |
c.316+1G>T |
- |
IntronicSNV |
- |
3/26 |
8 |
13-32893463-G-A |
c.316+1G>A |
- |
IntronicSNV |
- |
3/26 |
7 |
13-32893463-G-C |
c.316+1G>C |
- |
IntronicSNV |
- |
3/26 |
4 |
13-32893464-T-C |
c.316+2T>C |
- |
IntronicSNV |
- |
3/26 |
13 |
13-32893464-T-G |
c.316+2T>G |
- |
IntronicSNV |
- |
3/26 |
2 |
13-32893465-A-C |
c.316+3A>C |
- |
IntronicSNV |
- |
3/26 |
2 |
13-32893465-A-G |
c.316+3A>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893464-TA-T |
c.316+4del |
- |
IntronicDeletion |
- |
3/26 |
6 |
13-32893467-G-C |
c.316+5G>C |
- |
IntronicSNV |
- |
3/26 |
11 |
13-32893467-G-A |
c.316+5G>A |
- |
IntronicSNV |
- |
3/26 |
10 |
13-32893465-AAGT-A |
c.316+5_316+7del |
- |
IntronicDeletion |
- |
3/26 |
1 |
13-32893468-T-C |
c.316+6T>C |
- |
IntronicSNV |
- |
3/26 |
4 |
13-32893468-T-A |
c.316+6T>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893468-T-G |
c.316+6T>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893471-T-A |
c.316+9T>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893474-A-G |
c.316+12A>G |
- |
IntronicSNV |
- |
3/26 |
3 |
13-32893475-A-G |
c.316+13A>G |
- |
IntronicSNV |
- |
3/26 |
3 |
13-32893480-G-A |
c.316+18G>A |
- |
IntronicSNV |
- |
3/26 |
2 |
13-32893481-T-G |
c.316+19T>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893487-G-A |
c.316+25G>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893495-C-G |
c.316+33C>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893535-A-G |
c.316+73A>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893570-A-G |
c.316+108A>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893572-T-G |
c.316+110T>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893583-T-C |
c.316+121T>C |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893693-T-C |
c.316+231T>C |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893791-A-G |
c.316+329A>G |
- |
IntronicSNV |
- |
3/26 |
6 |
13-32893830-A-G |
c.316+368A>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32894484-G-A |
c.316+1022G>A |
- |
IntronicSNV |
- |
3/26 |
2 |
13-32894515-C-T |
c.316+1053C>T |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32895131-A-G |
c.316+1669A>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32895377-G-C |
c.316+1915G>C |
- |
IntronicSNV |
- |
3/26 |
4 |
13-32895658-A-G |
c.316+2196A>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32896846-G-A |
c.317-2367G>A |
- |
IntronicSNV |
- |
3/26 |
3 |
13-32898192-A-G |
c.317-1021A>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32899041-C-A |
c.317-172C>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32899041-C-T |
c.317-172C>T |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32899042-G-A |
c.317-171G>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32899133-T-C |
c.317-80T>C |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32899159-C-G |
c.317-54C>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32899191-C-T |
c.317-22C>T |
- |
IntronicSNV |
- |
3/26 |
2 |
13-32899201-G-A |
c.317-12G>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32899201-G-T |
c.317-12G>T |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32899203-A-G |
c.317-10A>G |
- |
IntronicSNV |
- |
3/26 |
4 |
13-32899213-G-T |
c.317G>T |
p.G106V |
Missense |
4/27 |
- |
4 |
13-32899213-G-A |
c.317G>A |
p.G106E |
Missense |
4/27 |
- |
5 |
13-32899213-G-C |
c.317G>C |
p.G106A |
Missense |
4/27 |
- |
4 |
13-32899213-GA-AC |
c.317_318delinsAC |
p.G106D |
Missense |
4/27 |
- |
1 |
13-32899214-A-T |
c.318A>T |
p.G106= |
Synonymous |
4/27 |
- |
1 |
13-32899214-A-G |
c.318A>G |
p.G106= |
Synonymous |
4/27 |
- |
1 |
13-32899214-A-C |
c.318A>C |
p.G106= |
Synonymous |
4/27 |
- |
1 |
13-32899214-GAAGGAATGTTCCCAATAGTAGACATAAAAGTCTTCGCACAGTGAAAACTAAAATGGATC-G |
c.321_379del |
p.R107Sfs*3 |
Unclassified |
4/27 |
- |
2 |
13-32899215-A-G |
c.319A>G |
p.R107G |
Missense |
4/27 |
- |
3 |
13-32899215-A-T |
c.319A>T |
p.R107W |
Missense |
4/27 |
- |
5 |
13-32899215-AGG-TGT |
c.319_321delinsTGT |
p.R107C |
Missense |
4/27 |
- |
1 |
13-32899216-G-C |
c.320G>C |
p.R107T |
Missense |
4/27 |
- |
7 |
13-32899216-G-A |
c.320G>A |
p.R107K |
Missense |
4/27 |
- |
4 |
13-32899216-G-T |
c.320G>T |
p.R107M |
Missense |
4/27 |
- |
3 |
13-32899216-GG-TC |
c.320_321delinsTC |
p.R107I |
Missense |
4/27 |
- |
1 |
13-32899215-AG-A |
c.321del |
p.N108Mfs*13 |
Frameshift |
4/27 |
- |
1 |
13-32899217-G-C |
c.321G>C |
p.R107S |
Missense |
4/27 |
- |
3 |
13-32899217-G-T |
c.321G>T |
p.R107S |
Missense |
4/27 |
- |
3 |
13-32899217-G-A |
c.321G>A |
p.R107= |
Synonymous |
4/27 |
- |
1 |
13-32899218-A-G |
c.322A>G |
p.N108D |
Missense |
4/27 |
- |
4 |
13-32899218-A-C |
c.322A>C |
p.N108H |
Missense |
4/27 |
- |
17 |
13-32899218-A-T |
c.322A>T |
p.N108Y |
Missense |
4/27 |
- |
3 |
13-32899219-A-G |
c.323A>G |
p.N108S |
Missense |
4/27 |
- |
14 |
13-32899219-A-C |
c.323A>C |
p.N108T |
Missense |
4/27 |
- |
8 |
13-32899219-A-T |
c.323A>T |
p.N108I |
Missense |
4/27 |
- |
3 |
13-32899220-T-C |
c.324T>C |
p.N108= |
Synonymous |
4/27 |
- |
3 |
13-32899220-T-A |
c.324T>A |
p.N108K |
Missense |
4/27 |
- |
5 |
13-32899220-T-G |
c.324T>G |
p.N108K |
Missense |
4/27 |
- |
3 |
13-32899221-G-A |
c.325G>A |
p.V109I |
Missense |
4/27 |
- |
6 |
13-32899221-G-C |
c.325G>C |
p.V109L |
Missense |
4/27 |
- |
4 |
13-32899221-G-T |
c.325G>T |
p.V109F |
Missense |
4/27 |
- |
3 |
13-32899221-TG-T |
c.325del |
p.V109Ffs*12 |
Frameshift |
4/27 |
- |
1 |
13-32899222-T-C |
c.326T>C |
p.V109A |
Missense |
4/27 |
- |
4 |
13-32899222-T-A |
c.326T>A |
p.V109D |
Missense |
4/27 |
- |
3 |
13-32899222-T-G |
c.326T>G |
p.V109G |
Missense |
4/27 |
- |
3 |
13-32899224-C-G |
c.328C>G |
p.P110A |
Missense |
4/27 |
- |
14 |
13-32899224-CC-GA |
c.328_329delinsGA |
p.P110D |
Missense |
4/27 |
- |
2 |
13-32899224-CC-GG |
c.328_329inv |
p.P110G |
Missense |
4/27 |
- |
1 |
13-32899224-C-T |
c.328C>T |
p.P110S |
Missense |
4/27 |
- |
4 |
13-32899224-C-A |
c.328C>A |
p.P110T |
Missense |
4/27 |
- |
6 |
13-32899225-C-G |
c.329C>G |
p.P110R |
Missense |
4/27 |
- |
4 |
13-32899223-TCC-T |
c.329_330del |
p.P110Qfs*2 |
Frameshift |
4/27 |
- |
1 |
13-32899225-C-A |
c.329C>A |
p.P110H |
Missense |
4/27 |
- |
3 |
13-32899225-C-T |
c.329C>T |
p.P110L |
Missense |
4/27 |
- |
3 |
13-32899223-T-TC |
c.330dup |
p.N111Qfs*2 |
Frameshift |
4/27 |
- |
1 |
13-32899226-C-T |
c.330C>T |
p.P110= |
Synonymous |
4/27 |
- |
1 |
13-32899226-C-G |
c.330C>G |
p.P110= |
Synonymous |
4/27 |
- |
1 |
13-32899226-C-A |
c.330C>A |
p.P110= |
Synonymous |
4/27 |
- |
1 |
13-32899227-A-G |
c.331A>G |
p.N111D |
Missense |
4/27 |
- |
7 |
13-32899227-A-C |
c.331A>C |
p.N111H |
Missense |
4/27 |
- |
3 |
13-32899227-A-T |
c.331A>T |
p.N111Y |
Missense |
4/27 |
- |
3 |
13-32899227-AA-GC |
c.331_332delinsGC |
p.N111A |
Missense |
4/27 |
- |
1 |
13-32899228-A-G |
c.332A>G |
p.N111S |
Missense |
4/27 |
- |
6 |
13-32899228-A-C |
c.332A>C |
p.N111T |
Missense |
4/27 |
- |
3 |
13-32899228-A-T |
c.332A>T |
p.N111I |
Missense |
4/27 |
- |
4 |
13-32899229-T-A |
c.333T>A |
p.N111K |
Missense |
4/27 |
- |
4 |
13-32899229-T-G |
c.333T>G |
p.N111K |
Missense |
4/27 |
- |
4 |
13-32899226-CAATAGTAGACATA-C |
c.333_345del |
p.N111Kfs*6 |
Frameshift |
4/27 |
- |
1 |
13-32899230-A-C |
c.334A>C |
p.S112R |
Missense |
4/27 |
- |
3 |
13-32899230-A-G |
c.334A>G |
p.S112G |
Missense |
4/27 |
- |
3 |
13-32899230-A-T |
c.334A>T |
p.S112C |
Missense |
4/27 |
- |
3 |
13-32899230-AG-CT |
c.334_335inv |
p.S112L |
Missense |
4/27 |
- |
2 |
13-32899230-AG-GC |
c.334_335delinsGC |
p.S112A |
Missense |
4/27 |
- |
1 |
13-32899231-AG-A |
c.335del |
p.S112Ifs*9 |
Frameshift |
4/27 |
- |
2 |
13-32899231-G-A |
c.335G>A |
p.S112N |
Missense |
4/27 |
- |
8 |
13-32899231-G-C |
c.335G>C |
p.S112T |
Missense |
4/27 |
- |
3 |
13-32899231-G-T |
c.335G>T |
p.S112I |
Missense |
4/27 |
- |
3 |
13-32899230-A-AG |
c.335dup |
p.S112Rfs*2 |
Frameshift |
4/27 |
- |
1 |
13-32899232-T-A |
c.336T>A |
p.S112R |
Missense |
4/27 |
- |
3 |
13-32899232-T-G |
c.336T>G |
p.S112R |
Missense |
4/27 |
- |
3 |
13-32899233-A-T |
c.337A>T |
p.R113* |
Nonsense |
4/27 |
- |
2 |
13-32899233-A-G |
c.337A>G |
p.R113G |
Missense |
4/27 |
- |
4 |
13-32899233-AG-CA |
c.337_338delinsCA |
p.R113Q |
Missense |
4/27 |
- |
1 |
13-32899233-A-C |
c.337A>C |
p.R113= |
Synonymous |
4/27 |
- |
1 |
13-32899233-AG-GC |
c.337_338delinsGC |
p.R113A |
Missense |
4/27 |
- |
2 |
13-32899233-TAGA-T |
c.337_339del |
p.R113del |
InFrameDeletion |
4/27 |
- |
1 |
13-32899234-G-A |
c.338G>A |
p.R113K |
Missense |
4/27 |
- |
12 |
13-32899234-G-C |
c.338G>C |
p.R113T |
Missense |
4/27 |
- |
3 |
13-32899234-G-T |
c.338G>T |
p.R113I |
Missense |
4/27 |
- |
3 |
13-32899235-A-C |
c.339A>C |
p.R113S |
Missense |
4/27 |
- |
3 |
13-32899235-A-T |
c.339A>T |
p.R113S |
Missense |
4/27 |
- |
3 |
13-32899236-C-T |
c.340C>T |
p.H114Y |
Missense |
4/27 |
- |
10 |
13-32899236-C-A |
c.340C>A |
p.H114N |
Missense |
4/27 |
- |
6 |
13-32899236-C-G |
c.340C>G |
p.H114D |
Missense |
4/27 |
- |
3 |
13-32899237-A-G |
c.341A>G |
p.H114R |
Missense |
4/27 |
- |
13 |
13-32899237-A-T |
c.341A>T |
p.H114L |
Missense |
4/27 |
- |
5 |
13-32899237-A-C |
c.341A>C |
p.H114P |
Missense |
4/27 |
- |
5 |
13-32899238-T-C |
c.342T>C |
p.H114= |
Synonymous |
4/27 |
- |
1 |
13-32899236-CAT-C |
c.342_343del |
p.H114Qfs*9 |
Frameshift |
4/27 |
- |
5 |
13-32899238-T-A |
c.342T>A |
p.H114Q |
Missense |
4/27 |
- |
4 |
13-32899238-T-G |
c.342T>G |
p.H114Q |
Missense |
4/27 |
- |
4 |
13-32899237-A-AT |
c.342dup |
p.K115* |
Nonsense |
4/27 |
- |
3 |
13-32899239-A-G |
c.343A>G |
p.K115E |
Missense |
4/27 |
- |
14 |
13-32899239-A-C |
c.343A>C |
p.K115Q |
Missense |
4/27 |
- |
3 |
13-32899239-A-T |
c.343A>T |
p.K115* |
Nonsense |
4/27 |
- |
1 |
13-32899239-AA-GC |
c.343_344delinsGC |
p.K115A |
Missense |
4/27 |
- |
1 |
13-32899240-A-C |
c.344A>C |
p.K115T |
Missense |
4/27 |
- |
4 |
13-32899240-A-G |
c.344A>G |
p.K115R |
Missense |
4/27 |
- |
3 |
13-32899240-A-T |
c.344A>T |
p.K115I |
Missense |
4/27 |
- |
5 |
13-32899241-A-C |
c.345A>C |
p.K115N |
Missense |
4/27 |
- |
4 |
13-32899241-A-T |
c.345A>T |
p.K115N |
Missense |
4/27 |
- |
3 |
13-32899238-TAA-T |
c.345_346del |
p.L117Sfs*6 |
Frameshift |
4/27 |
- |
1 |
13-32899238-TA-T |
c.346del |
p.S116Vfs*5 |
Frameshift |
4/27 |
- |
2 |
13-32899242-A-C |
c.346A>C |
p.S116R |
Missense |
4/27 |
- |
3 |
13-32899242-A-G |
c.346A>G |
p.S116G |
Missense |
4/27 |
- |
3 |
13-32899242-A-T |
c.346A>T |
p.S116C |
Missense |
4/27 |
- |
3 |
13-32899242-AG-CT |
c.346_347inv |
p.S116L |
Missense |
4/27 |
- |
1 |
13-32899242-AG-TT |
c.346_347delinsTT |
p.S116F |
Missense |
4/27 |
- |
1 |
13-32899243-G-A |
c.347G>A |
p.S116N |
Missense |
4/27 |
- |
5 |
13-32899243-G-C |
c.347G>C |
p.S116T |
Missense |
4/27 |
- |
3 |
13-32899243-G-T |
c.347G>T |
p.S116I |
Missense |
4/27 |
- |
3 |
13-32899243-AG-A |
c.347del |
p.S116Ifs*5 |
Frameshift |
4/27 |
- |
1 |
13-32899244-T-C |
c.348T>C |
p.S116= |
Synonymous |
4/27 |
- |
1 |
13-32899244-T-G |
c.348T>G |
p.S116R |
Missense |
4/27 |
- |
7 |
13-32899244-T-A |
c.348T>A |
p.S116R |
Missense |
4/27 |
- |
3 |
13-32899243-GTC-G |
c.349_350del |
p.L117Sfs*6 |
Frameshift |
4/27 |
- |
4 |
13-32899245-C-T |
c.349C>T |
p.L117F |
Missense |
4/27 |
- |
7 |
13-32899245-C-A |
c.349C>A |
p.L117I |
Missense |
4/27 |
- |
4 |
13-32899245-C-G |
c.349C>G |
p.L117V |
Missense |
4/27 |
- |
3 |
13-32899245-CTT-GAG |
c.349_351delinsGAG |
p.L117E |
Missense |
4/27 |
- |
1 |
13-32899245-CT-AG |
c.349_350inv |
p.L117S |
Missense |
4/27 |
- |
1 |
13-32899246-T-A |
c.350T>A |
p.L117H |
Missense |
4/27 |
- |
3 |
13-32899246-T-C |
c.350T>C |
p.L117P |
Missense |
4/27 |
- |
3 |
13-32899246-T-G |
c.350T>G |
p.L117R |
Missense |
4/27 |
- |
3 |
13-32899247-TTC-T |
c.351_352del |
p.R118Hfs*5 |
Frameshift |
4/27 |
- |
3 |
13-32899248-C-T |
c.352C>T |
p.R118C |
Missense |
4/27 |
- |
23 |
13-32899248-C-G |
c.352C>G |
p.R118G |
Missense |
4/27 |
- |
4 |
13-32899248-C-A |
c.352C>A |
p.R118S |
Missense |
4/27 |
- |
5 |
13-32899248-CGC-ATG |
c.352_354delinsATG |
p.R118M |
Missense |
4/27 |
- |
1 |
13-32899249-G-A |
c.353G>A |
p.R118H |
Missense |
4/27 |
- |
32 |
13-32899249-G-T |
c.353G>T |
p.R118L |
Missense |
4/27 |
- |
11 |
13-32899249-G-C |
c.353G>C |
p.R118P |
Missense |
4/27 |
- |
5 |
13-32899249-GC-AA |
c.353_354delinsAA |
p.R118Q |
Missense |
4/27 |
- |
1 |
13-32899250-GC-G |
c.354del |
p.T119Qfs*2 |
Frameshift |
4/27 |
- |
1 |
13-32899251-A-G |
c.355A>G |
p.T119A |
Missense |
4/27 |
- |
4 |
13-32899251-A-T |
c.355A>T |
p.T119S |
Missense |
4/27 |
- |
4 |
13-32899251-A-C |
c.355A>C |
p.T119P |
Missense |
4/27 |
- |
3 |
13-32899252-C-T |
c.356C>T |
p.T119I |
Missense |
4/27 |
- |
7 |
13-32899252-C-A |
c.356C>A |
p.T119K |
Missense |
4/27 |
- |
4 |
13-32899252-C-G |
c.356C>G |
p.T119R |
Missense |
4/27 |
- |
3 |
13-32899253-A-G |
c.357A>G |
p.T119= |
Synonymous |
4/27 |
- |
2 |
13-32899253-A-T |
c.357A>T |
p.T119= |
Synonymous |
4/27 |
- |
2 |
13-32899253-A-C |
c.357A>C |
p.T119= |
Synonymous |
4/27 |
- |
2 |
13-32899254-G-A |
c.358G>A |
p.V120M |
Missense |
4/27 |
- |
7 |
13-32899254-G-T |
c.358G>T |
p.V120L |
Missense |
4/27 |
- |
4 |
13-32899254-G-C |
c.358G>C |
p.V120L |
Missense |
4/27 |
- |
3 |
13-32899255-T-C |
c.359T>C |
p.V120A |
Missense |
4/27 |
- |
4 |
13-32899255-T-A |
c.359T>A |
p.V120E |
Missense |
4/27 |
- |
3 |
13-32899255-T-G |
c.359T>G |
p.V120G |
Missense |
4/27 |
- |
3 |
13-32899256-G-GT |
c.360_361insT |
p.K121* |
Nonsense |
4/27 |
- |
1 |
13-32899257-A-G |
c.361A>G |
p.K121E |
Missense |
4/27 |
- |
5 |
13-32899257-A-C |
c.361A>C |
p.K121Q |
Missense |
4/27 |
- |
3 |
13-32899257-A-T |
c.361A>T |
p.K121* |
Nonsense |
4/27 |
- |
1 |
13-32899258-AA-TG |
c.362_363delinsTG |
p.K121M |
Missense |
4/27 |
- |
3 |
13-32899258-A-C |
c.362A>C |
p.K121T |
Missense |
4/27 |
- |
3 |
13-32899258-A-G |
c.362A>G |
p.K121R |
Missense |
4/27 |
- |
3 |
13-32899258-A-T |
c.362A>T |
p.K121I |
Missense |
4/27 |
- |
3 |
13-32899259-A-G |
c.363A>G |
p.K121= |
Synonymous |
4/27 |
- |
2 |
13-32899259-A-C |
c.363A>C |
p.K121N |
Missense |
4/27 |
- |
5 |
13-32899259-A-T |
c.363A>T |
p.K121N |
Missense |
4/27 |
- |
5 |
13-32899260-A-G |
c.364A>G |
p.T122A |
Missense |
4/27 |
- |
7 |
13-32899260-A-C |
c.364A>C |
p.T122P |
Missense |
4/27 |
- |
3 |
13-32899260-A-T |
c.364A>T |
p.T122S |
Missense |
4/27 |
- |
3 |
13-32899256-GA-G |
c.364del |
p.T122Lfs*14 |
Frameshift |
4/27 |
- |
3 |
13-32899256-G-GA |
c.364dup |
p.T122Nfs*2 |
Frameshift |
4/27 |
- |
1 |
13-32899261-C-T |
c.365C>T |
p.T122I |
Missense |
4/27 |
- |
5 |
13-32899261-C-G |
c.365C>G |
p.T122S |
Missense |
4/27 |
- |
4 |
13-32899261-CT-GG |
c.365_366delinsGG |
p.T122R |
Missense |
4/27 |
- |
1 |
13-32899261-C-A |
c.365C>A |
p.T122N |
Missense |
4/27 |
- |
4 |
13-32899261-C-CT |
c.366dup |
p.K123* |
Nonsense |
4/27 |
- |
1 |
13-32899263-A-G |
c.367A>G |
p.K123E |
Missense |
4/27 |
- |
7 |
13-32899263-A-C |
c.367A>C |
p.K123Q |
Missense |
4/27 |
- |
3 |
13-32899263-A-T |
c.367A>T |
p.K123* |
Nonsense |
4/27 |
- |
1 |
13-32899263-AA-GC |
c.367_368delinsGC |
p.K123A |
Missense |
4/27 |
- |
1 |
13-32899263-AAA-TGG |
c.367_369delinsTGG |
p.K123W |
Missense |
4/27 |
- |
1 |
13-32899263-TAAAA-T |
c.367_370del |
p.K123Wfs*12 |
Frameshift |
4/27 |
- |
2 |
13-32899264-A-G |
c.368A>G |
p.K123R |
Missense |
4/27 |
- |
5 |
13-32899264-AAAATG-A |
c.368_372del |
p.K123Rfs*5 |
Frameshift |
4/27 |
- |
6 |
13-32899264-A-C |
c.368A>C |
p.K123T |
Missense |
4/27 |
- |
3 |
13-32899264-A-T |
c.368A>T |
p.K123I |
Missense |
4/27 |
- |
3 |
13-32899265-A-C |
c.369A>C |
p.K123N |
Missense |
4/27 |
- |
6 |
13-32899265-A-T |
c.369A>T |
p.K123N |
Missense |
4/27 |
- |
3 |
13-32899262-T-TA |
c.370dup |
p.M124Nfs*6 |
Frameshift |
4/27 |
- |
1 |
13-32899266-A-G |
c.370A>G |
p.M124V |
Missense |
4/27 |
- |
9 |
13-32899262-TA-T |
c.370del |
p.M124Wfs*12 |
Frameshift |
4/27 |
- |
9 |
13-32899264-AAATGG-A |
c.370_374del |
p.M124Sfs*4 |
Frameshift |
4/27 |
- |
4 |
13-32899266-A-T |
c.370A>T |
p.M124L |
Missense |
4/27 |
- |
4 |
13-32899266-A-C |
c.370A>C |
p.M124L |
Missense |
4/27 |
- |
7 |
13-32899267-T-C |
c.371T>C |
p.M124T |
Missense |
4/27 |
- |
10 |
13-32899267-T-A |
c.371T>A |
p.M124K |
Missense |
4/27 |
- |
3 |
13-32899267-T-G |
c.371T>G |
p.M124R |
Missense |
4/27 |
- |
4 |
13-32899267-TG-GC |
c.371_372delinsGC |
p.M124S |
Missense |
4/27 |
- |
1 |
13-32899268-G-A |
c.372G>A |
p.M124I |
Missense |
4/27 |
- |
3 |
13-32899268-G-C |
c.372G>C |
p.M124I |
Missense |
4/27 |
- |
3 |
13-32899268-G-T |
c.372G>T |
p.M124I |
Missense |
4/27 |
- |
4 |
13-32899269-G-T |
c.373G>T |
p.D125Y |
Missense |
4/27 |
- |
4 |
13-32899269-G-A |
c.373G>A |
p.D125N |
Missense |
4/27 |
- |
3 |
13-32899269-G-C |
c.373G>C |
p.D125H |
Missense |
4/27 |
- |
3 |
13-32899270-A-G |
c.374A>G |
p.D125G |
Missense |
4/27 |
- |
15 |
13-32899270-A-C |
c.374A>C |
p.D125A |
Missense |
4/27 |
- |
3 |
13-32899270-A-T |
c.374A>T |
p.D125V |
Missense |
4/27 |
- |
3 |
13-32899271-T-A |
c.375T>A |
p.D125E |
Missense |
4/27 |
- |
11 |
13-32899271-T-G |
c.375T>G |
p.D125E |
Missense |
4/27 |
- |
3 |
13-32899272-C-T |
c.376C>T |
p.Q126* |
Nonsense |
4/27 |
- |
8 |
13-32899272-C-G |
c.376C>G |
p.Q126E |
Missense |
4/27 |
- |
8 |
13-32899272-C-A |
c.376C>A |
p.Q126K |
Missense |
4/27 |
- |
4 |
13-32899272-CA-GC |
c.376_377delinsGC |
p.Q126A |
Missense |
4/27 |
- |
1 |
13-32899273-A-G |
c.377A>G |
p.Q126R |
Missense |
4/27 |
- |
5 |
13-32899273-A-C |
c.377A>C |
p.Q126P |
Missense |
4/27 |
- |
4 |
13-32899273-A-T |
c.377A>T |
p.Q126L |
Missense |
4/27 |
- |
3 |
13-32899274-A-G |
c.378A>G |
p.Q126= |
Synonymous |
4/27 |
- |
3 |
13-32899274-A-C |
c.378A>C |
p.Q126H |
Missense |
4/27 |
- |
3 |
13-32899274-A-T |
c.378A>T |
p.Q126H |
Missense |
4/27 |
- |
3 |
13-32899272-C-CA |
c.378dup |
p.A127Sfs*3 |
Frameshift |
4/27 |
- |
3 |
13-32899275-G-T |
c.379G>T |
p.A127S |
Missense |
4/27 |
- |
13 |
13-32899275-G-A |
c.379G>A |
p.A127T |
Missense |
4/27 |
- |
9 |
13-32899275-G-C |
c.379G>C |
p.A127P |
Missense |
4/27 |
- |
4 |
13-32899276-C-T |
c.380C>T |
p.A127V |
Missense |
4/27 |
- |
4 |
13-32899276-C-A |
c.380C>A |
p.A127E |
Missense |
4/27 |
- |
3 |
13-32899276-C-G |
c.380C>G |
p.A127G |
Missense |
4/27 |
- |
3 |
13-32899277-A-C |
c.381A>C |
p.A127= |
Synonymous |
4/27 |
- |
1 |
13-32899277-A-G |
c.381A>G |
p.A127= |
Synonymous |
4/27 |
- |
2 |
13-32899277-A-T |
c.381A>T |
p.A127= |
Synonymous |
4/27 |
- |
1 |
13-32899278-G-A |
c.382G>A |
p.D128N |
Missense |
4/27 |
- |
4 |
13-32899278-G-C |
c.382G>C |
p.D128H |
Missense |
4/27 |
- |
3 |
13-32899278-G-T |
c.382G>T |
p.D128Y |
Missense |
4/27 |
- |
4 |
13-32899279-A-G |
c.383A>G |
p.D128G |
Missense |
4/27 |
- |
15 |
13-32899279-A-C |
c.383A>C |
p.D128A |
Missense |
4/27 |
- |
3 |
13-32899279-A-T |
c.383A>T |
p.D128V |
Missense |
4/27 |
- |
3 |
13-32899280-T-A |
c.384T>A |
p.D128E |
Missense |
4/27 |
- |
4 |
13-32899280-T-G |
c.384T>G |
p.D128E |
Missense |
4/27 |
- |
4 |
13-32899281-G-T |
c.385G>T |
p.D129Y |
Missense |
4/27 |
- |
5 |
13-32899281-G-A |
c.385G>A |
p.D129N |
Missense |
4/27 |
- |
3 |
13-32899281-G-C |
c.385G>C |
p.D129H |
Missense |
4/27 |
- |
3 |
13-32899282-A-G |
c.386A>G |
p.D129G |
Missense |
4/27 |
- |
4 |
13-32899282-A-T |
c.386A>T |
p.D129V |
Missense |
4/27 |
- |
5 |
13-32899282-A-C |
c.386A>C |
p.D129A |
Missense |
4/27 |
- |
3 |
13-32899283-T-A |
c.387T>A |
p.D129E |
Missense |
4/27 |
- |
3 |
13-32899283-T-G |
c.387T>G |
p.D129E |
Missense |
4/27 |
- |
4 |
13-32899284-G-A |
c.388G>A |
p.V130I |
Missense |
4/27 |
- |
6 |
13-32899284-G-C |
c.388G>C |
p.V130L |
Missense |
4/27 |
- |
3 |
13-32899284-G-T |
c.388G>T |
p.V130F |
Missense |
4/27 |
- |
3 |
13-32899285-GTTTCCTGTCCACTTCTAA-G |
c.389_406del |
p.V130_N136delinsD |
MultiAAMissense |
4/27 |
- |
1 |
13-32899285-T-C |
c.389T>C |
p.V130A |
Missense |
4/27 |
- |
4 |
13-32899285-T-A |
c.389T>A |
p.V130D |
Missense |
4/27 |
- |
3 |
13-32899285-T-G |
c.389T>G |
p.V130G |
Missense |
4/27 |
- |
3 |
13-32899284-GT-G |
c.391del |
p.S131Pfs*5 |
Frameshift |
4/27 |
- |
7 |
13-32899287-TC-CT |
c.391_392delinsCT |
p.S131L |
Missense |
4/27 |
- |
1 |
13-32899287-T-G |
c.391T>G |
p.S131A |
Missense |
4/27 |
- |
6 |
13-32899287-T-A |
c.391T>A |
p.S131T |
Missense |
4/27 |
- |
3 |
13-32899287-T-C |
c.391T>C |
p.S131P |
Missense |
4/27 |
- |
3 |
13-32899288-C-A |
c.392C>A |
p.S131Y |
Missense |
4/27 |
- |
5 |
13-32899288-C-G |
c.392C>G |
p.S131C |
Missense |
4/27 |
- |
3 |
13-32899288-C-T |
c.392C>T |
p.S131F |
Missense |
4/27 |
- |
4 |
13-32899289-C-A |
c.393C>A |
p.S131= |
Synonymous |
4/27 |
- |
1 |
13-32899290-T-C |
c.394T>C |
p.C132R |
Missense |
4/27 |
- |
9 |
13-32899290-T-A |
c.394T>A |
p.C132S |
Missense |
4/27 |
- |
4 |
13-32899291-G-C |
c.395G>C |
p.C132S |
Missense |
4/27 |
- |
4 |
13-32899290-TG-GC |
c.394_395delinsGC |
p.C132A |
Missense |
4/27 |
- |
1 |
13-32899290-T-G |
c.394T>G |
p.C132G |
Missense |
4/27 |
- |
3 |
13-32899291-G-T |
c.395G>T |
p.C132F |
Missense |
4/27 |
- |
5 |
13-32899291-G-A |
c.395G>A |
p.C132Y |
Missense |
4/27 |
- |
5 |
13-32899292-T-A |
c.396T>A |
p.C132* |
Nonsense |
4/27 |
- |
13 |
13-32899292-T-C |
c.396T>C |
p.C132= |
Synonymous |
4/27 |
- |
1 |
13-32899292-T-G |
c.396T>G |
p.C132W |
Missense |
4/27 |
- |
3 |
13-32899293-C-T |
c.397C>T |
p.P133S |
Missense |
4/27 |
- |
10 |
13-32899293-C-A |
c.397C>A |
p.P133T |
Missense |
4/27 |
- |
7 |
13-32899293-C-G |
c.397C>G |
p.P133A |
Missense |
4/27 |
- |
3 |
13-32899294-C-A |
c.398C>A |
p.P133Q |
Missense |
4/27 |
- |
4 |
13-32899294-C-G |
c.398C>G |
p.P133R |
Missense |
4/27 |
- |
5 |
13-32899294-C-T |
c.398C>T |
p.P133L |
Missense |
4/27 |
- |
3 |
13-32899296-C-A |
c.400C>A |
p.L134I |
Missense |
4/27 |
- |
4 |
13-32899296-C-G |
c.400C>G |
p.L134V |
Missense |
4/27 |
- |
3 |
13-32899296-C-T |
c.400C>T |
p.L134F |
Missense |
4/27 |
- |
3 |
13-32899297-CTT-C |
c.401_402del |
p.L134Pfs*6 |
Frameshift |
4/27 |
- |
1 |
13-32899297-T-C |
c.401T>C |
p.L134P |
Missense |
4/27 |
- |
4 |
13-32899297-T-A |
c.401T>A |
p.L134H |
Missense |
4/27 |
- |
3 |
13-32899297-T-G |
c.401T>G |
p.L134R |
Missense |
4/27 |
- |
3 |
13-32899298-T-G |
c.402T>G |
p.L134= |
Synonymous |
4/27 |
- |
1 |
13-32899299-C-T |
c.403C>T |
p.L135= |
Synonymous |
4/27 |
- |
4 |
13-32899299-C-A |
c.403C>A |
p.L135I |
Missense |
4/27 |
- |
4 |
13-32899299-C-G |
c.403C>G |
p.L135V |
Missense |
4/27 |
- |
6 |
13-32899299-CTA-TTT |
c.403_405delinsTTT |
p.L135F |
Missense |
4/27 |
- |
1 |
13-32899298-T-TCTAAATTC |
c.403_410dup |
p.C138* |
Nonsense |
4/27 |
- |
1 |
13-32899300-T-A |
c.404T>A |
p.L135Q |
Missense |
4/27 |
- |
7 |
13-32899300-T-C |
c.404T>C |
p.L135P |
Missense |
4/27 |
- |
3 |
13-32899300-T-G |
c.404T>G |
p.L135R |
Missense |
4/27 |
- |
3 |
13-32899297-TTCTAAATTCTTG-T |
c.405_416del |
p.N136_L139del |
InFrameDeletion |
4/27 |
- |
1 |
13-32899301-A-T |
c.405A>T |
p.L135= |
Synonymous |
4/27 |
- |
1 |
13-32899301-A-G |
c.405A>G |
p.L135= |
Synonymous |
4/27 |
- |
1 |
13-32899301-A-C |
c.405A>C |
p.L135= |
Synonymous |
4/27 |
- |
1 |
13-32899302-A-C |
c.406A>C |
p.N136H |
Missense |
4/27 |
- |
3 |
13-32899302-A-G |
c.406A>G |
p.N136D |
Missense |
4/27 |
- |
3 |
13-32899302-A-T |
c.406A>T |
p.N136Y |
Missense |
4/27 |
- |
2 |
13-32899300-TA-T |
c.407del |
p.N136Ifs*16 |
Frameshift |
4/27 |
- |
12 |
13-32899303-A-G |
c.407A>G |
p.N136S |
Missense |
4/27 |
- |
4 |
13-32899303-AAT-A |
c.407_408del |
p.N136Ifs*4 |
Frameshift |
4/27 |
- |
1 |
13-32899303-A-C |
c.407A>C |
p.N136T |
Missense |
4/27 |
- |
3 |
13-32899303-A-T |
c.407A>T |
p.N136I |
Missense |
4/27 |
- |
4 |
13-32899304-T-C |
c.408T>C |
p.N136= |
Synonymous |
4/27 |
- |
1 |
13-32899304-T-A |
c.408T>A |
p.N136K |
Missense |
4/27 |
- |
3 |
13-32899304-T-G |
c.408T>G |
p.N136K |
Missense |
4/27 |
- |
3 |
13-32899305-T-G |
c.409T>G |
p.S137A |
Missense |
4/27 |
- |
5 |
13-32899305-TC-GA |
c.409_410inv |
p.S137D |
Missense |
4/27 |
- |
1 |
13-32899305-T-A |
c.409T>A |
p.S137T |
Missense |
4/27 |
- |
3 |
13-32899305-T-C |
c.409T>C |
p.S137P |
Missense |
4/27 |
- |
3 |
13-32899305-TC-AA |
c.409_410delinsAA |
p.S137N |
Missense |
4/27 |
- |
1 |
13-32899306-C-T |
c.410C>T |
p.S137F |
Missense |
4/27 |
- |
5 |
13-32899306-TC-T |
c.410del |
p.S137Ffs*15 |
Frameshift |
4/27 |
- |
5 |
13-32899306-C-G |
c.410C>G |
p.S137C |
Missense |
4/27 |
- |
5 |
13-32899306-C-A |
c.410C>A |
p.S137Y |
Missense |
4/27 |
- |
4 |
13-32899307-T-G |
c.411T>G |
p.S137= |
Synonymous |
4/27 |
- |
1 |
13-32899307-T-C |
c.411T>C |
p.S137= |
Synonymous |
4/27 |
- |
1 |
13-32899307-T-A |
c.411T>A |
p.S137= |
Synonymous |
4/27 |
- |
1 |
13-32899308-TG-GC |
c.412_413delinsGC |
p.C138A |
Missense |
4/27 |
- |
2 |
13-32899308-T-A |
c.412T>A |
p.C138S |
Missense |
4/27 |
- |
3 |
13-32899308-T-C |
c.412T>C |
p.C138R |
Missense |
4/27 |
- |
3 |
13-32899308-T-G |
c.412T>G |
p.C138G |
Missense |
4/27 |
- |
3 |
13-32899307-T-TTAA |
c.412_413insAAT |
p.S137_C138ins* |
InFrameInsertion |
4/27 |
- |
2 |
13-32899309-G-A |
c.413G>A |
p.C138Y |
Missense |
4/27 |
- |
7 |
13-32899309-G-T |
c.413G>T |
p.C138F |
Missense |
4/27 |
- |
11 |
13-32899304-TTCTTG-T |
c.413_417del |
p.C138* |
Frameshift |
4/27 |
- |
4 |
13-32899309-G-C |
c.413G>C |
p.C138S |
Missense |
4/27 |
- |
3 |
13-32899310-T-C |
c.414T>C |
p.C138= |
Synonymous |
4/27 |
- |
1 |
13-32899310-T-A |
c.414T>A |
p.C138* |
Nonsense |
4/27 |
- |
5 |
13-32899310-T-G |
c.414T>G |
p.C138W |
Missense |
4/27 |
- |
3 |
13-32899310-T-TTAA |
c.414_415insTAA |
p.C138_L139ins* |
InFrameInsertion |
4/27 |
- |
2 |
13-32899311-C-A |
c.415C>A |
p.L139I |
Missense |
4/27 |
- |
5 |
13-32899311-C-G |
c.415C>G |
p.L139V |
Missense |
4/27 |
- |
11 |
13-32899311-C-T |
c.415C>T |
p.L139F |
Missense |
4/27 |
- |
7 |
13-32899312-T-C |
c.416T>C |
p.L139P |
Missense |
4/27 |
- |
9 |
13-32899312-T-A |
c.416T>A |
p.L139H |
Missense |
4/27 |
- |
3 |
13-32899312-T-G |
c.416T>G |
p.L139R |
Missense |
4/27 |
- |
4 |
13-32899314-A-G |
c.418A>G |
p.S140G |
Missense |
4/27 |
- |
8 |
13-32899314-A-C |
c.418A>C |
p.S140R |
Missense |
4/27 |
- |
4 |
13-32899314-A-T |
c.418A>T |
p.S140C |
Missense |
4/27 |
- |
3 |
13-32899314-AGT-GAG |
c.418_420delinsGAG |
p.S140E |
Missense |
4/27 |
- |
1 |
13-32899315-G-A |
c.419G>A |
p.S140N |
Missense |
4/27 |
- |
4 |
13-32899315-G-C |
c.419G>C |
p.S140T |
Missense |
4/27 |
- |
3 |
13-32899315-G-T |
c.419G>T |
p.S140I |
Missense |
4/27 |
- |
3 |
13-32899315-AG-A |
c.419del |
p.S140Mfs*12 |
Frameshift |
4/27 |
- |
3 |
13-32899316-GT-G |
c.420del |
p.S140Rfs*12 |
Frameshift |
4/27 |
- |
1 |
13-32899315-G-GT |
c.420dup |
p.E141* |
Nonsense |
4/27 |
- |
1 |
13-32899316-T-A |
c.420T>A |
p.S140R |
Missense |
4/27 |
- |
4 |
13-32899316-T-G |
c.420T>G |
p.S140R |
Missense |
4/27 |
- |
5 |
13-32899317-G-T |
c.421G>T |
p.E141* |
Nonsense |
4/27 |
- |
3 |
13-32899317-G-A |
c.421G>A |
p.E141K |
Missense |
4/27 |
- |
4 |
13-32899317-G-C |
c.421G>C |
p.E141Q |
Missense |
4/27 |
- |
3 |
13-32899318-A-C |
c.422A>C |
p.E141A |
Missense |
4/27 |
- |
4 |
13-32899318-A-G |
c.422A>G |
p.E141G |
Missense |
4/27 |
- |
4 |
13-32899318-A-T |
c.422A>T |
p.E141V |
Missense |
4/27 |
- |
3 |
13-32899319-A-C |
c.423A>C |
p.E141D |
Missense |
4/27 |
- |
3 |
13-32899319-A-T |
c.423A>T |
p.E141D |
Missense |
4/27 |
- |
3 |
13-32899320-A-C |
c.424A>C |
p.S142R |
Missense |
4/27 |
- |
6 |
13-32899320-A-G |
c.424A>G |
p.S142G |
Missense |
4/27 |
- |
4 |
13-32899320-A-T |
c.424A>T |
p.S142C |
Missense |
4/27 |
- |
3 |
13-32899317-GA-G |
c.424del |
p.S142Vfs*10 |
Frameshift |
4/27 |
- |
1 |
13-32899320-A-ATGAG |
c.424_425insTGAG |
p.S142Mfs*17 |
SpliceDonorInsertion |
4/27 |
- |
1 |
13-32899321-G-T |
c.425G>T |
p.S142I |
Missense |
4/27 |
- |
24 |
13-32899321-G-A |
c.425G>A |
p.S142N |
Missense |
4/27 |
- |
15 |
13-32899321-G-C |
c.425G>C |
p.S142T |
Missense |
4/27 |
- |
3 |
13-32899322-G-A |
c.425+1G>A |
- |
IntronicSNV |
- |
4/26 |
5 |
13-32899320-AG-A |
c.425+1del |
- |
Frameshift |
- |
4/26 |
1 |
13-32899323-T-C |
c.425+2T>C |
- |
IntronicSNV |
- |
4/26 |
7 |
13-32899323-T-A |
c.425+2T>A |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899323-T-G |
c.425+2T>G |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899324-A-G |
c.425+3A>G |
- |
IntronicSNV |
- |
4/26 |
2 |
13-32899322-GTATGATGAAGCTATTATAT-G |
c.425+4_425+22del |
- |
IntronicDeletion |
- |
4/26 |
4 |
13-32899325-T-G |
c.425+4T>G |
- |
IntronicSNV |
- |
4/26 |
4 |
13-32899327-A-G |
c.425+6A>G |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899350-T-C |
c.425+29T>C |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899350-T-G |
c.425+29T>G |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899354-A-G |
c.425+33A>G |
- |
IntronicSNV |
- |
4/26 |
6 |
13-32899357-A-G |
c.425+36A>G |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899387-A-G |
c.425+66A>G |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899388-A-C |
c.425+67A>C |
- |
IntronicSNV |
- |
4/26 |
18 |
13-32899401-T-C |
c.425+80T>C |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899407-G-A |
c.425+86G>A |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899411-A-G |
c.425+90A>G |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899419-G-GC |
c.425+99dup |
- |
IntronicInsertion |
- |
4/26 |
1 |
13-32899468-G-T |
c.425+147G>T |
- |
IntronicSNV |
- |
4/26 |
2 |
13-32899567-G-C |
c.425+246G>C |
- |
IntronicSNV |
- |
4/26 |
5 |
13-32899567-G-A |
c.425+246G>A |
- |
IntronicSNV |
- |
4/26 |
2 |
13-32899685-G-C |
c.425+364G>C |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899685-G-GT |
c.425+378dup |
- |
IntronicInsertion |
- |
4/26 |
1 |
13-32899878-C-T |
c.426-360C>T |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32900149-T-C |
c.426-89T>C |
- |
IntronicSNV |
- |
4/26 |
6 |
13-32900154-G-C |
c.426-84G>C |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32900154-G-T |
c.426-84G>T |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32900201-T-A |
c.426-37T>A |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32900236-A-G |
c.426-2A>G |
- |
IntronicSNV |
- |
4/26 |
2 |
13-32900236-A-T |
c.426-2A>T |
- |
IntronicSNV |
- |
4/26 |
2 |
13-32900237-G-A |
c.426-1G>A |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32900238-T-C |
c.426T>C |
p.S142= |
Synonymous |
5/27 |
- |
1 |
13-32900238-GT-G |
c.426del |
p.P143Lfs*9 |
Frameshift |
5/27 |
- |
1 |
13-32900237-G-GT |
c.426dup |
p.P143Sfs*15 |
SpliceAcceptorInsertion |
5/27 |
- |
1 |
13-32900238-T-TA |
c.426_427insA |
p.P143Tfs*15 |
SpliceAcceptorInsertion |
5/27 |
- |
1 |
13-32900238-T-TG |
c.426_427insG |
p.P143Afs*15 |
SpliceAcceptorInsertion |
5/27 |
- |
1 |
13-32900238-T-A |
c.426T>A |
p.S142R |
Missense |
5/27 |
- |
3 |
13-32900238-T-G |
c.426T>G |
p.S142R |
Missense |
5/27 |
- |
3 |
13-32900238-GTCCTGTTGTTCTACAATGTACACATGTAACACCACAAAGAGATAAGTCAGGTATGATTA-G |
c.426_475+9del |
- |
Unclassified |
5/27 |
5/26 |
1 |
13-32900235-TAGTCCTGTTGTTCTACAATGTACACATGTAACACCACAAAGAGATAAGTC-T |
c.426_475del |
p.P143Gfs*23 |
Unclassified |
5/27 |
- |
1 |
13-32900239-C-T |
c.427C>T |
p.P143S |
Missense |
5/27 |
- |
10 |
13-32900239-CC-TT |
c.427_428delinsTT |
p.P143F |
Missense |
5/27 |
- |
1 |
13-32900239-C-A |
c.427C>A |
p.P143T |
Missense |
5/27 |
- |
3 |
13-32900239-C-G |
c.427C>G |
p.P143A |
Missense |
5/27 |
- |
3 |
13-32900240-C-G |
c.428C>G |
p.P143R |
Missense |
5/27 |
- |
12 |
13-32900238-T-TC |
c.428dup |
p.V144Cfs*14 |
Frameshift |
5/27 |
- |
6 |
13-32900238-TC-T |
c.428del |
p.P143Lfs*9 |
Frameshift |
5/27 |
- |
3 |
13-32900240-C-A |
c.428C>A |
p.P143H |
Missense |
5/27 |
- |
3 |
13-32900240-C-T |
c.428C>T |
p.P143L |
Missense |
5/27 |
- |
5 |
13-32900241-CT-C |
c.429del |
p.V144Lfs*8 |
Frameshift |
5/27 |
- |
5 |
13-32900242-G-T |
c.430G>T |
p.V144F |
Missense |
5/27 |
- |
8 |
13-32900242-G-A |
c.430G>A |
p.V144I |
Missense |
5/27 |
- |
8 |
13-32900242-G-C |
c.430G>C |
p.V144L |
Missense |
5/27 |
- |
5 |
13-32900242-GT-TG |
c.430_431delinsTG |
p.V144C |
Missense |
5/27 |
- |
1 |
13-32900243-T-A |
c.431T>A |
p.V144D |
Missense |
5/27 |
- |
4 |
13-32900243-T-C |
c.431T>C |
p.V144A |
Missense |
5/27 |
- |
4 |
13-32900243-T-G |
c.431T>G |
p.V144G |
Missense |
5/27 |
- |
3 |
13-32900242-GT-G |
c.432del |
p.V145Ffs*7 |
Frameshift |
5/27 |
- |
1 |
13-32900240-CTGT-C |
c.433_435del |
p.V145del |
InFrameDeletion |
5/27 |
- |
11 |
13-32900243-TTG-T |
c.433_434del |
p.V145Sfs*12 |
Frameshift |
5/27 |
- |
1 |
13-32900245-G-A |
c.433G>A |
p.V145I |
Missense |
5/27 |
- |
6 |
13-32900245-G-C |
c.433G>C |
p.V145L |
Missense |
5/27 |
- |
3 |
13-32900245-G-T |
c.433G>T |
p.V145F |
Missense |
5/27 |
- |
3 |
13-32900243-TTGTTC-T |
c.433_437del |
p.V145Tfs*11 |
Frameshift |
5/27 |
- |
3 |
13-32900245-GT-AC |
c.433_434inv |
p.V145T |
Missense |
5/27 |
- |
1 |
13-32900246-T-A |
c.434T>A |
p.V145D |
Missense |
5/27 |
- |
3 |
13-32900246-T-C |
c.434T>C |
p.V145A |
Missense |
5/27 |
- |
3 |
13-32900246-T-G |
c.434T>G |
p.V145G |
Missense |
5/27 |
- |
3 |
13-32900247-T-G |
c.435T>G |
p.V145= |
Synonymous |
5/27 |
- |
1 |
13-32900248-C-A |
c.436C>A |
p.L146I |
Missense |
5/27 |
- |
3 |
13-32900248-C-G |
c.436C>G |
p.L146V |
Missense |
5/27 |
- |
3 |
13-32900249-T-C |
c.437T>C |
p.L146P |
Missense |
5/27 |
- |
10 |
13-32900249-T-A |
c.437T>A |
p.L146Q |
Missense |
5/27 |
- |
3 |
13-32900249-T-G |
c.437T>G |
p.L146R |
Missense |
5/27 |
- |
3 |
13-32900250-A-T |
c.438A>T |
p.L146= |
Synonymous |
5/27 |
- |
1 |
13-32900250-A-G |
c.438A>G |
p.L146= |
Synonymous |
5/27 |
- |
3 |
13-32900250-A-C |
c.438A>C |
p.L146= |
Synonymous |
5/27 |
- |
1 |
13-32900248-C-T |
c.436C>T |
p.L146= |
Synonymous |
5/27 |
- |
1 |
13-32900250-TA-T |
c.438del |
p.Q147Nfs*5 |
Frameshift |
5/27 |
- |
3 |
13-32900251-C-T |
c.439C>T |
p.Q147* |
Nonsense |
5/27 |
- |
15 |
13-32900251-C-A |
c.439C>A |
p.Q147K |
Missense |
5/27 |
- |
3 |
13-32900251-C-G |
c.439C>G |
p.Q147E |
Missense |
5/27 |
- |
3 |
13-32900252-A-G |
c.440A>G |
p.Q147R |
Missense |
5/27 |
- |
34 |
13-32900252-A-T |
c.440A>T |
p.Q147L |
Missense |
5/27 |
- |
13 |
13-32900252-A-C |
c.440A>C |
p.Q147P |
Missense |
5/27 |
- |
3 |
13-32900253-A-G |
c.441A>G |
p.Q147= |
Synonymous |
5/27 |
- |
6 |
13-32900253-A-T |
c.441A>T |
p.Q147H |
Missense |
5/27 |
- |
8 |
13-32900253-A-C |
c.441A>C |
p.Q147H |
Missense |
5/27 |
- |
3 |
13-32900251-CA-C |
c.441del |
p.Q147Hfs*5 |
Frameshift |
5/27 |
- |
3 |
13-32900254-T-C |
c.442T>C |
p.C148R |
Missense |
5/27 |
- |
15 |
13-32900254-AT-A |
c.442del |
p.C148Vfs*4 |
Frameshift |
5/27 |
- |
1 |
13-32900254-TG-GC |
c.442_443delinsGC |
p.C148A |
Missense |
5/27 |
- |
1 |
13-32900254-T-A |
c.442T>A |
p.C148S |
Missense |
5/27 |
- |
6 |
13-32900254-T-G |
c.442T>G |
p.C148G |
Missense |
5/27 |
- |
3 |
13-32900255-G-A |
c.443G>A |
p.C148Y |
Missense |
5/27 |
- |
8 |
13-32900254-T-TG |
c.443dup |
p.C148Wfs*10 |
Frameshift |
5/27 |
- |
3 |
13-32900255-G-T |
c.443G>T |
p.C148F |
Missense |
5/27 |
- |
4 |
13-32900255-G-C |
c.443G>C |
p.C148S |
Missense |
5/27 |
- |
3 |
13-32900256-T-C |
c.444T>C |
p.C148= |
Synonymous |
5/27 |
- |
1 |
13-32900256-T-A |
c.444T>A |
p.C148* |
Nonsense |
5/27 |
- |
1 |
13-32900256-T-G |
c.444T>G |
p.C148W |
Missense |
5/27 |
- |
3 |
13-32900257-A-C |
c.445A>C |
p.T149P |
Missense |
5/27 |
- |
4 |
13-32900257-A-G |
c.445A>G |
p.T149A |
Missense |
5/27 |
- |
5 |
13-32900257-AC-GA |
c.445_446delinsGA |
p.T149E |
Missense |
5/27 |
- |
1 |
13-32900257-ACA-GAC |
c.445_447delinsGAC |
p.T149D |
Missense |
5/27 |
- |
1 |
13-32900257-A-T |
c.445A>T |
p.T149S |
Missense |
5/27 |
- |
3 |
13-32900258-C-T |
c.446C>T |
p.T149I |
Missense |
5/27 |
- |
7 |
13-32900258-C-A |
c.446C>A |
p.T149K |
Missense |
5/27 |
- |
3 |
13-32900258-C-G |
c.446C>G |
p.T149R |
Missense |
5/27 |
- |
3 |
13-32900259-A-G |
c.447A>G |
p.T149= |
Synonymous |
5/27 |
- |
3 |
13-32900259-A-T |
c.447A>T |
p.T149= |
Synonymous |
5/27 |
- |
3 |
13-32900259-A-C |
c.447A>C |
p.T149= |
Synonymous |
5/27 |
- |
3 |
13-32900260-C-T |
c.448C>T |
p.H150Y |
Missense |
5/27 |
- |
8 |
13-32900260-C-A |
c.448C>A |
p.H150N |
Missense |
5/27 |
- |
5 |
13-32900260-C-G |
c.448C>G |
p.H150D |
Missense |
5/27 |
- |
3 |
13-32900261-A-G |
c.449A>G |
p.H150R |
Missense |
5/27 |
- |
11 |
13-32900261-A-C |
c.449A>C |
p.H150P |
Missense |
5/27 |
- |
7 |
13-32900261-A-T |
c.449A>T |
p.H150L |
Missense |
5/27 |
- |
3 |
13-32900262-T-A |
c.450T>A |
p.H150Q |
Missense |
5/27 |
- |
3 |
13-32900262-T-G |
c.450T>G |
p.H150Q |
Missense |
5/27 |
- |
4 |
13-32900263-G-C |
c.451G>C |
p.V151L |
Missense |
5/27 |
- |
5 |
13-32900263-G-A |
c.451G>A |
p.V151I |
Missense |
5/27 |
- |
8 |
13-32900263-G-T |
c.451G>T |
p.V151L |
Missense |
5/27 |
- |
5 |
13-32900261-A-ATG |
c.451_452dup |
p.T152* |
Nonsense |
5/27 |
- |
1 |
13-32900263-GTA-TTT |
c.451_453delinsTTT |
p.V151F |
Missense |
5/27 |
- |
1 |
13-32900263-GTA-ATG |
c.451_453delinsATG |
p.V151M |
Missense |
5/27 |
- |
1 |
13-32900264-T-C |
c.452T>C |
p.V151A |
Missense |
5/27 |
- |
12 |
13-32900264-T-A |
c.452T>A |
p.V151E |
Missense |
5/27 |
- |
3 |
13-32900264-T-G |
c.452T>G |
p.V151G |
Missense |
5/27 |
- |
3 |
13-32900264-T-TATA |
c.453_454insTAA |
p.V151_T152ins* |
InFrameInsertion |
5/27 |
- |
2 |
13-32900264-TAAC-T |
c.454_456del |
p.T152del |
InFrameDeletion |
5/27 |
- |
1 |
13-32900266-A-G |
c.454A>G |
p.T152A |
Missense |
5/27 |
- |
10 |
13-32900266-ACA-TGT |
c.454_456inv |
p.T152C |
Missense |
5/27 |
- |
3 |
13-32900266-A-T |
c.454A>T |
p.T152S |
Missense |
5/27 |
- |
7 |
13-32900266-A-C |
c.454A>C |
p.T152P |
Missense |
5/27 |
- |
3 |
13-32900267-C-T |
c.455C>T |
p.T152I |
Missense |
5/27 |
- |
4 |
13-32900267-C-A |
c.455C>A |
p.T152K |
Missense |
5/27 |
- |
13 |
13-32900267-C-G |
c.455C>G |
p.T152R |
Missense |
5/27 |
- |
3 |
13-32900268-A-G |
c.456A>G |
p.T152= |
Synonymous |
5/27 |
- |
2 |
13-32900268-A-T |
c.456A>T |
p.T152= |
Synonymous |
5/27 |
- |
2 |
13-32900268-A-C |
c.456A>C |
p.T152= |
Synonymous |
5/27 |
- |
2 |
13-32900265-AAC-A |
c.456_457del |
p.P153Tfs*4 |
Frameshift |
5/27 |
- |
1 |
13-32900269-C-T |
c.457C>T |
p.P153S |
Missense |
5/27 |
- |
7 |
13-32900269-C-A |
c.457C>A |
p.P153T |
Missense |
5/27 |
- |
7 |
13-32900269-C-G |
c.457C>G |
p.P153A |
Missense |
5/27 |
- |
3 |
13-32900270-C-T |
c.458C>T |
p.P153L |
Missense |
5/27 |
- |
9 |
13-32900270-C-A |
c.458C>A |
p.P153Q |
Missense |
5/27 |
- |
3 |
13-32900270-C-G |
c.458C>G |
p.P153R |
Missense |
5/27 |
- |
3 |
13-32900271-A-T |
c.459A>T |
p.P153= |
Synonymous |
5/27 |
- |
1 |
13-32900271-A-G |
c.459A>G |
p.P153= |
Synonymous |
5/27 |
- |
2 |
13-32900271-A-C |
c.459A>C |
p.P153= |
Synonymous |
5/27 |
- |
1 |
13-32900272-C-T |
c.460C>T |
p.Q154* |
Nonsense |
5/27 |
- |
5 |
13-32900272-C-A |
c.460C>A |
p.Q154K |
Missense |
5/27 |
- |
4 |
13-32900272-C-G |
c.460C>G |
p.Q154E |
Missense |
5/27 |
- |
3 |
13-32900273-A-G |
c.461A>G |
p.Q154R |
Missense |
5/27 |
- |
11 |
13-32900273-A-C |
c.461A>C |
p.Q154P |
Missense |
5/27 |
- |
3 |
13-32900273-A-T |
c.461A>T |
p.Q154L |
Missense |
5/27 |
- |
4 |
13-32900272-CAA-C |
c.462_463del |
p.D156* |
Frameshift |
5/27 |
- |
13 |
13-32900274-A-G |
c.462A>G |
p.Q154= |
Synonymous |
5/27 |
- |
1 |
13-32900274-A-T |
c.462A>T |
p.Q154H |
Missense |
5/27 |
- |
6 |
13-32900274-A-C |
c.462A>C |
p.Q154H |
Missense |
5/27 |
- |
3 |
13-32900275-A-T |
c.463A>T |
p.R155* |
Nonsense |
5/27 |
- |
2 |
13-32900275-A-G |
c.463A>G |
p.R155G |
Missense |
5/27 |
- |
4 |
13-32900275-AGA-TGT |
c.463_465delinsTGT |
p.R155C |
Missense |
5/27 |
- |
1 |
13-32900275-AGA-TGG |
c.463_465delinsTGG |
p.R155W |
Missense |
5/27 |
- |
4 |
13-32900275-AG-CA |
c.463_464delinsCA |
p.R155Q |
Missense |
5/27 |
- |
3 |
13-32900275-AG-CT |
c.463_464inv |
p.R155L |
Missense |
5/27 |
- |
2 |
13-32900275-AG-CC |
c.463_464delinsCC |
p.R155P |
Missense |
5/27 |
- |
1 |
13-32900276-G-A |
c.464G>A |
p.R155K |
Missense |
5/27 |
- |
13 |
13-32900276-AGAGAT-A |
c.464_468del |
p.R155Kfs*26 |
Frameshift |
5/27 |
- |
9 |
13-32900276-G-C |
c.464G>C |
p.R155T |
Missense |
5/27 |
- |
18 |
13-32900276-G-T |
c.464G>T |
p.R155I |
Missense |
5/27 |
- |
11 |
13-32900276-G-GATA |
c.465_466insTAA |
p.R155_D156ins* |
InFrameInsertion |
5/27 |
- |
4 |
13-32900277-A-C |
c.465A>C |
p.R155S |
Missense |
5/27 |
- |
3 |
13-32900277-A-T |
c.465A>T |
p.R155S |
Missense |
5/27 |
- |
4 |
13-32900277-A-AT |
c.465_466insT |
p.D156* |
Nonsense |
5/27 |
- |
4 |
13-32900274-AAG-A |
c.466_467del |
p.D156* |
Frameshift |
5/27 |
- |
5 |
13-32900278-GAT-TAA |
c.466_468delinsTAA |
p.D156* |
Nonsense |
5/27 |
- |
1 |
13-32900278-G-A |
c.466G>A |
p.D156N |
Missense |
5/27 |
- |
5 |
13-32900278-G-C |
c.466G>C |
p.D156H |
Missense |
5/27 |
- |
3 |
13-32900278-G-T |
c.466G>T |
p.D156Y |
Missense |
5/27 |
- |
3 |
13-32900279-A-G |
c.467A>G |
p.D156G |
Missense |
5/27 |
- |
21 |
13-32900279-A-C |
c.467A>C |
p.D156A |
Missense |
5/27 |
- |
8 |
13-32900279-A-T |
c.467A>T |
p.D156V |
Missense |
5/27 |
- |
8 |
13-32900280-T-G |
c.468T>G |
p.D156E |
Missense |
5/27 |
- |
6 |
13-32900280-T-A |
c.468T>A |
p.D156E |
Missense |
5/27 |
- |
7 |
13-32900279-A-AT |
c.468dup |
p.K157* |
Nonsense |
5/27 |
- |
9 |
13-32900281-TAA-T |
c.469_470del |
p.K157Vfs*25 |
Frameshift |
5/27 |
- |
16 |
13-32900281-A-T |
c.469A>T |
p.K157* |
Nonsense |
5/27 |
- |
9 |
13-32900281-A-AT |
c.469_470insT |
p.K157Ifs*26 |
Frameshift |
5/27 |
- |
4 |
13-32900281-A-C |
c.469A>C |
p.K157Q |
Missense |
5/27 |
- |
3 |
13-32900281-A-G |
c.469A>G |
p.K157E |
Missense |
5/27 |
- |
3 |
13-32900281-AA-GC |
c.469_470delinsGC |
p.K157A |
Missense |
5/27 |
- |
1 |
13-32900280-TAAGTC-T |
c.470_474del |
p.K157Sfs*24 |
SpliceDonorDeletion |
5/27 |
- |
25 |
13-32900282-AAG-A |
c.470_471del |
p.K157Ifs*25 |
Frameshift |
5/27 |
- |
2 |
13-32900282-A-C |
c.470A>C |
p.K157T |
Missense |
5/27 |
- |
4 |
13-32900280-TA-T |
c.470del |
p.K157Sfs*15 |
Frameshift |
5/27 |
- |
4 |
13-32900280-T-TA |
c.470dup |
p.S158Vfs*25 |
Frameshift |
5/27 |
- |
4 |
13-32900280-TAAGTCAGGTATGATTAAAAACAATGCTTTTTATTCTTAGAATACTAGAAATGTTAATAA-T |
c.471_476-38del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
5/27 |
5/26 |
1 |
13-32900282-A-G |
c.470A>G |
p.K157R |
Missense |
5/27 |
- |
3 |
13-32900282-A-T |
c.470A>T |
p.K157M |
Missense |
5/27 |
- |
3 |
13-32900283-G-GA |
c.471_472insA |
p.S158Ifs*25 |
Frameshift |
5/27 |
- |
4 |
13-32900283-AG-A |
c.471del |
p.K157Nfs*15 |
Frameshift |
5/27 |
- |
4 |
13-32900283-G-C |
c.471G>C |
p.K157N |
Missense |
5/27 |
- |
4 |
13-32900283-G-T |
c.471G>T |
p.K157N |
Missense |
5/27 |
- |
4 |
13-32900284-T-G |
c.472T>G |
p.S158A |
Missense |
5/27 |
- |
6 |
13-32900284-TCA-GAC |
c.472_474delinsGAC |
p.S158D |
Missense |
5/27 |
- |
2 |
13-32900284-T-C |
c.472T>C |
p.S158P |
Missense |
5/27 |
- |
12 |
13-32900284-T-A |
c.472T>A |
p.S158T |
Missense |
5/27 |
- |
4 |
13-32900284-TC-AT |
c.472_473delinsAT |
p.S158I |
Missense |
5/27 |
- |
1 |
13-32900284-TC-GT |
c.472_473delinsGT |
p.S158V |
Missense |
5/27 |
- |
1 |
13-32900285-C-T |
c.473C>T |
p.S158L |
Missense |
5/27 |
- |
13 |
13-32900285-C-A |
c.473C>A |
p.S158* |
Nonsense |
5/27 |
- |
10 |
13-32900285-C-G |
c.473C>G |
p.S158* |
Nonsense |
5/27 |
- |
7 |
13-32900286-A-AT |
c.474_475insT |
p.V159Cfs*24 |
SpliceDonorInsertion |
5/27 |
- |
2 |
13-32900285-C-CA |
c.474dup |
p.V159Sfs*24 |
SpliceDonorInsertion |
5/27 |
- |
2 |
13-32900286-A-AC |
c.474_475insC |
p.V159Rfs*24 |
SpliceDonorInsertion |
5/27 |
- |
2 |
13-32900286-A-T |
c.474A>T |
p.S158= |
Synonymous |
5/27 |
- |
1 |
13-32900287-G-A |
c.475G>A |
p.V159M |
Missense |
5/27 |
- |
32 |
13-32900287-G-C |
c.475G>C |
p.V159L |
Missense |
5/27 |
- |
10 |
13-32900287-G-T |
c.475G>T |
p.V159L |
Missense |
5/27 |
- |
4 |
13-32900288-G-A |
c.475+1G>A |
- |
IntronicSNV |
- |
5/26 |
16 |
13-32900288-G-T |
c.475+1G>T |
- |
IntronicSNV |
- |
5/26 |
18 |
13-32900289-T-C |
c.475+2T>C |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900289-T-A |
c.475+2T>A |
- |
IntronicSNV |
- |
5/26 |
2 |
13-32900290-A-G |
c.475+3A>G |
- |
IntronicSNV |
- |
5/26 |
4 |
13-32900290-A-T |
c.475+3A>T |
- |
IntronicSNV |
- |
5/26 |
5 |
13-32900291-AT-A |
c.475+4del |
- |
IntronicDeletion |
- |
5/26 |
7 |
13-32900292-G-C |
c.475+5G>C |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900293-A-AT |
c.475+8dup |
- |
IntronicInsertion |
- |
5/26 |
1 |
13-32900296-A-T |
c.475+9A>T |
- |
IntronicSNV |
- |
5/26 |
2 |
13-32900300-A-C |
c.475+13A>C |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900295-TA-T |
c.475+13del |
- |
IntronicDeletion |
- |
5/26 |
1 |
13-32900301-C-T |
c.475+14C>T |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900312-A-G |
c.475+25A>G |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900313-T-C |
c.475+26T>C |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900315-C-T |
c.475+28C>T |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900376-C-A |
c.476-3C>A |
- |
IntronicSNV |
- |
5/26 |
2 |
13-32900376-C-T |
c.476-3C>T |
- |
IntronicSNV |
- |
5/26 |
2 |
13-32900377-A-C |
c.476-2A>C |
- |
IntronicSNV |
- |
5/26 |
2 |
13-32900377-A-G |
c.476-2A>G |
- |
IntronicSNV |
- |
5/26 |
2 |
13-32900378-G-A |
c.476-1G>A |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900378-G-C |
c.476-1G>C |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900378-G-T |
c.476-1G>T |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900379-T-C |
c.476T>C |
p.V159A |
Missense |
6/27 |
- |
10 |
13-32900379-T-A |
c.476T>A |
p.V159E |
Missense |
6/27 |
- |
7 |
13-32900379-T-G |
c.476T>G |
p.V159G |
Missense |
6/27 |
- |
3 |
13-32900376-CAGTGGTATGTGGGAGTTTGTTTCATACACCAAAGTTTGTGA-C |
c.476_516del |
p.V159Gfs*10 |
Unclassified |
6/27 |
- |
1 |
13-32900380-G-A |
c.477G>A |
p.V159= |
Synonymous |
6/27 |
- |
1 |
13-32900380-G-C |
c.477G>C |
p.V159= |
Synonymous |
6/27 |
- |
1 |
13-32900380-G-T |
c.477G>T |
p.V159= |
Synonymous |
6/27 |
- |
2 |
13-32900381-G-A |
c.478G>A |
p.V160I |
Missense |
6/27 |
- |
7 |
13-32900381-GTA-CTT |
c.478_480delinsCTT |
p.V160L |
Missense |
6/27 |
- |
2 |
13-32900381-G-C |
c.478G>C |
p.V160L |
Missense |
6/27 |
- |
4 |
13-32900381-G-T |
c.478G>T |
p.V160L |
Missense |
6/27 |
- |
4 |
13-32900382-T-C |
c.479T>C |
p.V160A |
Missense |
6/27 |
- |
4 |
13-32900382-T-A |
c.479T>A |
p.V160E |
Missense |
6/27 |
- |
3 |
13-32900382-T-G |
c.479T>G |
p.V160G |
Missense |
6/27 |
- |
3 |
13-32900383-A-G |
c.480A>G |
p.V160= |
Synonymous |
6/27 |
- |
2 |
13-32900384-TG-GC |
c.481_482delinsGC |
p.C161A |
Missense |
6/27 |
- |
1 |
13-32900384-T-A |
c.481T>A |
p.C161S |
Missense |
6/27 |
- |
4 |
13-32900384-T-C |
c.481T>C |
p.C161R |
Missense |
6/27 |
- |
4 |
13-32900384-T-G |
c.481T>G |
p.C161G |
Missense |
6/27 |
- |
3 |
13-32900384-ATGTGGGAGTTTGTTTCATACACCAAAGTTTGTGAAGGTAAATATTCTACCTGGTTTATT-A |
c.482_516+24del |
- |
SpliceDonorDeletion |
6/27 |
6/26 |
1 |
13-32900385-G-A |
c.482G>A |
p.C161Y |
Missense |
6/27 |
- |
11 |
13-32900385-TG-T |
c.482del |
p.C161Lfs*11 |
Frameshift |
6/27 |
- |
1 |
13-32900385-G-C |
c.482G>C |
p.C161S |
Missense |
6/27 |
- |
4 |
13-32900385-G-T |
c.482G>T |
p.C161F |
Missense |
6/27 |
- |
3 |
13-32900386-T-A |
c.483T>A |
p.C161* |
Nonsense |
6/27 |
- |
5 |
13-32900386-T-G |
c.483T>G |
p.C161W |
Missense |
6/27 |
- |
11 |
13-32900386-T-C |
c.483T>C |
p.C161= |
Synonymous |
6/27 |
- |
1 |
13-32900387-G-A |
c.484G>A |
p.G162R |
Missense |
6/27 |
- |
7 |
13-32900387-G-C |
c.484G>C |
p.G162R |
Missense |
6/27 |
- |
7 |
13-32900387-GG-AA |
c.484_485delinsAA |
p.G162K |
Missense |
6/27 |
- |
1 |
13-32900387-G-T |
c.484G>T |
p.G162W |
Missense |
6/27 |
- |
3 |
13-32900388-G-T |
c.485G>T |
p.G162V |
Missense |
6/27 |
- |
4 |
13-32900386-TGG-T |
c.485_486del |
p.G162Efs*20 |
Frameshift |
6/27 |
- |
2 |
13-32900388-G-A |
c.485G>A |
p.G162E |
Missense |
6/27 |
- |
4 |
13-32900388-G-C |
c.485G>C |
p.G162A |
Missense |
6/27 |
- |
3 |
13-32900386-TG-T |
c.486del |
p.S163Vfs*9 |
Frameshift |
6/27 |
- |
8 |
13-32900387-GGGA-G |
c.486_488del |
p.S163del |
InFrameDeletion |
6/27 |
- |
3 |
13-32900389-G-A |
c.486G>A |
p.G162= |
Synonymous |
6/27 |
- |
1 |
13-32900388-GGA-G |
c.487_488del |
p.S163Ffs*19 |
Frameshift |
6/27 |
- |
1 |
13-32900390-A-C |
c.487A>C |
p.S163R |
Missense |
6/27 |
- |
6 |
13-32900390-A-G |
c.487A>G |
p.S163G |
Missense |
6/27 |
- |
5 |
13-32900390-A-T |
c.487A>T |
p.S163C |
Missense |
6/27 |
- |
4 |
13-32900390-AG-GC |
c.487_488delinsGC |
p.S163A |
Missense |
6/27 |
- |
1 |
13-32900390-AG-TT |
c.487_488delinsTT |
p.S163F |
Missense |
6/27 |
- |
1 |
13-32900391-AGT-A |
c.488_489del |
p.S163Ifs*19 |
Frameshift |
6/27 |
- |
4 |
13-32900391-G-C |
c.488G>C |
p.S163T |
Missense |
6/27 |
- |
5 |
13-32900391-G-A |
c.488G>A |
p.S163N |
Missense |
6/27 |
- |
4 |
13-32900391-G-T |
c.488G>T |
p.S163I |
Missense |
6/27 |
- |
3 |
13-32900390-A-AG |
c.488dup |
p.S163Rfs*20 |
Frameshift |
6/27 |
- |
3 |
13-32900392-T-C |
c.489T>C |
p.S163= |
Synonymous |
6/27 |
- |
1 |
13-32900392-T-TG |
c.489_490insG |
p.L164Vfs*19 |
Frameshift |
6/27 |
- |
5 |
13-32900392-T-G |
c.489T>G |
p.S163R |
Missense |
6/27 |
- |
7 |
13-32900392-T-A |
c.489T>A |
p.S163R |
Missense |
6/27 |
- |
3 |
13-32900391-G-GTTAAATGC |
c.490_491insAAATGCTT |
p.L164* |
Nonsense |
6/27 |
- |
1 |
13-32900393-T-C |
c.490T>C |
p.L164= |
Synonymous |
6/27 |
- |
1 |
13-32900395-G-A |
c.492G>A |
p.L164= |
Synonymous |
6/27 |
- |
2 |
13-32900393-T-A |
c.490T>A |
p.L164M |
Missense |
6/27 |
- |
3 |
13-32900393-T-G |
c.490T>G |
p.L164V |
Missense |
6/27 |
- |
3 |
13-32900393-TT-CC |
c.490_491delinsCC |
p.L164P |
Missense |
6/27 |
- |
1 |
13-32900394-T-A |
c.491T>A |
p.L164* |
Nonsense |
6/27 |
- |
8 |
13-32900394-T-C |
c.491T>C |
p.L164S |
Missense |
6/27 |
- |
3 |
13-32900394-T-G |
c.491T>G |
p.L164W |
Missense |
6/27 |
- |
3 |
13-32900391-GT-G |
c.491del |
p.L164Cfs*8 |
Frameshift |
6/27 |
- |
1 |
13-32900395-G-T |
c.492G>T |
p.L164F |
Missense |
6/27 |
- |
4 |
13-32900395-G-C |
c.492G>C |
p.L164F |
Missense |
6/27 |
- |
3 |
13-32900396-T-C |
c.493T>C |
p.F165L |
Missense |
6/27 |
- |
7 |
13-32900396-T-A |
c.493T>A |
p.F165I |
Missense |
6/27 |
- |
3 |
13-32900396-T-G |
c.493T>G |
p.F165V |
Missense |
6/27 |
- |
3 |
13-32900397-T-A |
c.494T>A |
p.F165Y |
Missense |
6/27 |
- |
3 |
13-32900397-T-C |
c.494T>C |
p.F165S |
Missense |
6/27 |
- |
3 |
13-32900397-T-G |
c.494T>G |
p.F165C |
Missense |
6/27 |
- |
3 |
13-32900397-TTTCATA-T |
c.494_499del |
p.F165_T167delinsS |
MultiAAMissense |
6/27 |
- |
1 |
13-32900395-GT-G |
c.495del |
p.H166Ifs*6 |
Frameshift |
6/27 |
- |
4 |
13-32900398-T-C |
c.495T>C |
p.F165= |
Synonymous |
6/27 |
- |
1 |
13-32900398-T-A |
c.495T>A |
p.F165L |
Missense |
6/27 |
- |
4 |
13-32900398-T-G |
c.495T>G |
p.F165L |
Missense |
6/27 |
- |
3 |
13-32900399-C-T |
c.496C>T |
p.H166Y |
Missense |
6/27 |
- |
12 |
13-32900399-C-A |
c.496C>A |
p.H166N |
Missense |
6/27 |
- |
4 |
13-32900399-C-G |
c.496C>G |
p.H166D |
Missense |
6/27 |
- |
3 |
13-32900400-A-T |
c.497A>T |
p.H166L |
Missense |
6/27 |
- |
10 |
13-32900400-A-G |
c.497A>G |
p.H166R |
Missense |
6/27 |
- |
8 |
13-32900400-A-C |
c.497A>C |
p.H166P |
Missense |
6/27 |
- |
3 |
13-32900401-T-A |
c.498T>A |
p.H166Q |
Missense |
6/27 |
- |
3 |
13-32900401-T-G |
c.498T>G |
p.H166Q |
Missense |
6/27 |
- |
3 |
13-32900402-A-G |
c.499A>G |
p.T167A |
Missense |
6/27 |
- |
4 |
13-32900402-A-C |
c.499A>C |
p.T167P |
Missense |
6/27 |
- |
3 |
13-32900402-A-T |
c.499A>T |
p.T167S |
Missense |
6/27 |
- |
3 |
13-32900403-C-T |
c.500C>T |
p.T167I |
Missense |
6/27 |
- |
7 |
13-32900403-C-A |
c.500C>A |
p.T167K |
Missense |
6/27 |
- |
3 |
13-32900403-C-G |
c.500C>G |
p.T167R |
Missense |
6/27 |
- |
3 |
13-32900403-CA-AC |
c.500_501delinsAC |
p.T167N |
Missense |
6/27 |
- |
1 |
13-32900404-A-G |
c.501A>G |
p.T167= |
Synonymous |
6/27 |
- |
1 |
13-32900404-A-T |
c.501A>T |
p.T167= |
Synonymous |
6/27 |
- |
1 |
13-32900404-A-C |
c.501A>C |
p.T167= |
Synonymous |
6/27 |
- |
1 |
13-32900405-C-A |
c.502C>A |
p.P168T |
Missense |
6/27 |
- |
21 |
13-32900405-C-G |
c.502C>G |
p.P168A |
Missense |
6/27 |
- |
12 |
13-32900405-C-T |
c.502C>T |
p.P168S |
Missense |
6/27 |
- |
7 |
13-32900406-C-A |
c.503C>A |
p.P168Q |
Missense |
6/27 |
- |
3 |
13-32900406-C-G |
c.503C>G |
p.P168R |
Missense |
6/27 |
- |
3 |
13-32900406-C-T |
c.503C>T |
p.P168L |
Missense |
6/27 |
- |
4 |
13-32900407-A-G |
c.504A>G |
p.P168= |
Synonymous |
6/27 |
- |
2 |
13-32900408-A-C |
c.505A>C |
p.K169Q |
Missense |
6/27 |
- |
8 |
13-32900408-A-G |
c.505A>G |
p.K169E |
Missense |
6/27 |
- |
7 |
13-32900408-A-T |
c.505A>T |
p.K169* |
Nonsense |
6/27 |
- |
1 |
13-32900409-A-G |
c.506A>G |
p.K169R |
Missense |
6/27 |
- |
25 |
13-32900406-C-CA |
c.506dup |
p.F170Vfs*13 |
Frameshift |
6/27 |
- |
1 |
13-32900409-A-C |
c.506A>C |
p.K169T |
Missense |
6/27 |
- |
3 |
13-32900409-A-T |
c.506A>T |
p.K169M |
Missense |
6/27 |
- |
3 |
13-32900406-CA-C |
c.506del |
p.K169Sfs*3 |
Frameshift |
6/27 |
- |
3 |
13-32900410-G-A |
c.507G>A |
p.K169= |
Synonymous |
6/27 |
- |
1 |
13-32900410-G-C |
c.507G>C |
p.K169N |
Missense |
6/27 |
- |
3 |
13-32900410-G-T |
c.507G>T |
p.K169N |
Missense |
6/27 |
- |
3 |
13-32900411-T-A |
c.508T>A |
p.F170I |
Missense |
6/27 |
- |
4 |
13-32900411-T-G |
c.508T>G |
p.F170V |
Missense |
6/27 |
- |
6 |
13-32900411-T-C |
c.508T>C |
p.F170L |
Missense |
6/27 |
- |
4 |
13-32900412-T-A |
c.509T>A |
p.F170Y |
Missense |
6/27 |
- |
2 |
13-32900412-T-C |
c.509T>C |
p.F170S |
Missense |
6/27 |
- |
4 |
13-32900412-T-G |
c.509T>G |
p.F170C |
Missense |
6/27 |
- |
3 |
13-32900413-T-C |
c.510T>C |
p.F170= |
Synonymous |
6/27 |
- |
1 |
13-32900413-T-A |
c.510T>A |
p.F170L |
Missense |
6/27 |
- |
4 |
13-32900413-T-G |
c.510T>G |
p.F170L |
Missense |
6/27 |
- |
4 |
13-32900414-GTG-ATC |
c.511_513delinsATC |
p.V171I |
Missense |
6/27 |
- |
1 |
13-32900414-G-C |
c.511G>C |
p.V171L |
Missense |
6/27 |
- |
4 |
13-32900414-G-A |
c.511G>A |
p.V171M |
Missense |
6/27 |
- |
4 |
13-32900414-G-T |
c.511G>T |
p.V171L |
Missense |
6/27 |
- |
3 |
13-32900414-G-GT |
c.512dup |
p.K172Efs*11 |
Frameshift |
6/27 |
- |
5 |
13-32900415-T-A |
c.512T>A |
p.V171E |
Missense |
6/27 |
- |
3 |
13-32900415-T-C |
c.512T>C |
p.V171A |
Missense |
6/27 |
- |
4 |
13-32900415-T-G |
c.512T>G |
p.V171G |
Missense |
6/27 |
- |
3 |
13-32900416-G-C |
c.513G>C |
p.V171= |
Synonymous |
6/27 |
- |
2 |
13-32900416-G-A |
c.513G>A |
p.V171= |
Synonymous |
6/27 |
- |
2 |
13-32900416-G-T |
c.513G>T |
p.V171= |
Synonymous |
6/27 |
- |
5 |
13-32900416-TG-T |
c.513del |
p.K172Rfs*13 |
Frameshift |
6/27 |
- |
1 |
13-32900417-A-G |
c.514A>G |
p.K172E |
Missense |
6/27 |
- |
5 |
13-32900417-A-C |
c.514A>C |
p.K172Q |
Missense |
6/27 |
- |
3 |
13-32900417-A-T |
c.514A>T |
p.K172* |
Nonsense |
6/27 |
- |
1 |
13-32900418-A-G |
c.515A>G |
p.K172R |
Missense |
6/27 |
- |
9 |
13-32900418-A-C |
c.515A>C |
p.K172T |
Missense |
6/27 |
- |
3 |
13-32900418-A-T |
c.515A>T |
p.K172M |
Missense |
6/27 |
- |
3 |
13-32900418-A-AC |
c.515_516insC |
p.K172Nfs*11 |
SpliceDonorInsertion |
6/27 |
- |
3 |
13-32900419-G-A |
c.516G>A |
p.K172= |
Synonymous |
6/27 |
- |
14 |
13-32900419-G-T |
c.516G>T |
p.K172N |
Missense |
6/27 |
- |
6 |
13-32900419-G-C |
c.516G>C |
p.K172N |
Missense |
6/27 |
- |
3 |
13-32900420-G-A |
c.516+1G>A |
- |
IntronicSNV |
- |
6/26 |
19 |
13-32900420-G-T |
c.516+1G>T |
- |
IntronicSNV |
- |
6/26 |
18 |
13-32900420-G-C |
c.516+1G>C |
- |
IntronicSNV |
- |
6/26 |
6 |
13-32900418-AG-A |
c.516+1del |
- |
IntronicDeletion |
- |
6/26 |
3 |
13-32900421-T-C |
c.516+2T>C |
- |
IntronicSNV |
- |
6/26 |
8 |
13-32900421-T-A |
c.516+2T>A |
- |
IntronicSNV |
- |
6/26 |
4 |
13-32900421-T-G |
c.516+2T>G |
- |
IntronicSNV |
- |
6/26 |
2 |
13-32900422-A-G |
c.516+3A>G |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900422-A-T |
c.516+3A>T |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900421-TAA-T |
c.516+4_516+5del |
- |
IntronicDeletion |
- |
6/26 |
2 |
13-32900426-A-G |
c.516+7A>G |
- |
IntronicSNV |
- |
6/26 |
2 |
13-32900429-C-T |
c.516+10C>T |
- |
IntronicSNV |
- |
6/26 |
2 |
13-32900433-C-T |
c.516+14C>T |
- |
IntronicSNV |
- |
6/26 |
8 |
13-32900436-G-T |
c.516+17G>T |
- |
IntronicSNV |
- |
6/26 |
2 |
13-32900436-G-C |
c.516+17G>C |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900437-T-C |
c.516+18T>C |
- |
IntronicSNV |
- |
6/26 |
6 |
13-32900440-A-T |
c.516+21A>T |
- |
IntronicSNV |
- |
6/26 |
5 |
13-32900449-A-G |
c.516+30A>G |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900457-A-AT |
c.516+40dup |
- |
IntronicInsertion |
- |
6/26 |
1 |
13-32900473-T-C |
c.516+54T>C |
- |
IntronicSNV |
- |
6/26 |
3 |
13-32900475-G-A |
c.516+56G>A |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900477-G-A |
c.516+58G>A |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900521-T-C |
c.516+102T>C |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900547-G-A |
c.517-89G>A |
- |
IntronicSNV |
- |
6/26 |
2 |
13-32900617-C-T |
c.517-19C>T |
- |
IntronicSNV |
- |
6/26 |
5 |
13-32900624-C-A |
c.517-12C>A |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900625-T-C |
c.517-11T>C |
- |
IntronicSNV |
- |
6/26 |
2 |
13-32900632-C-G |
c.517-4C>G |
- |
IntronicSNV |
- |
6/26 |
4 |
13-32900634-A-C |
c.517-2A>C |
- |
IntronicSNV |
- |
6/26 |
5 |
13-32900634-A-G |
c.517-2A>G |
- |
IntronicSNV |
- |
6/26 |
5 |
13-32900635-G-A |
c.517-1G>A |
- |
IntronicSNV |
- |
6/26 |
3 |
13-32900635-G-T |
c.517-1G>T |
- |
IntronicSNV |
- |
6/26 |
3 |
13-32900636-G-T |
c.517G>T |
p.G173C |
Missense |
7/27 |
- |
20 |
13-32900636-G-C |
c.517G>C |
p.G173R |
Missense |
7/27 |
- |
15 |
13-32900636-G-A |
c.517G>A |
p.G173S |
Missense |
7/27 |
- |
4 |
13-32900637-G-T |
c.518G>T |
p.G173V |
Missense |
7/27 |
- |
18 |
13-32900634-AG-A |
c.518del |
p.G173Vfs*12 |
Frameshift |
7/27 |
- |
12 |
13-32900637-GT-AG |
c.518_519delinsAG |
p.G173E |
Missense |
7/27 |
- |
1 |
13-32900637-G-A |
c.518G>A |
p.G173D |
Missense |
7/27 |
- |
7 |
13-32900637-G-C |
c.518G>C |
p.G173A |
Missense |
7/27 |
- |
3 |
13-32900638-T-G |
c.519T>G |
p.G173= |
Synonymous |
7/27 |
- |
1 |
13-32900638-T-A |
c.519T>A |
p.G173= |
Synonymous |
7/27 |
- |
1 |
13-32900638-T-C |
c.519T>C |
p.G173= |
Synonymous |
7/27 |
- |
1 |
13-32900639-C-T |
c.520C>T |
p.R174C |
Missense |
7/27 |
- |
31 |
13-32900639-CGT-TGA |
c.520_522delinsTGA |
p.R174* |
Nonsense |
7/27 |
- |
2 |
13-32900639-C-G |
c.520C>G |
p.R174G |
Missense |
7/27 |
- |
6 |
13-32900639-C-A |
c.520C>A |
p.R174S |
Missense |
7/27 |
- |
3 |
13-32900639-CGT-TGG |
c.520_522delinsTGG |
p.R174W |
Missense |
7/27 |
- |
1 |
13-32900639-CG-GC |
c.520_521delinsGC |
p.R174A |
Missense |
7/27 |
- |
1 |
13-32900640-G-A |
c.521G>A |
p.R174H |
Missense |
7/27 |
- |
26 |
13-32900640-G-C |
c.521G>C |
p.R174P |
Missense |
7/27 |
- |
3 |
13-32900640-G-T |
c.521G>T |
p.R174L |
Missense |
7/27 |
- |
3 |
13-32900641-T-A |
c.522T>A |
p.R174= |
Synonymous |
7/27 |
- |
1 |
13-32900641-T-C |
c.522T>C |
p.R174= |
Synonymous |
7/27 |
- |
2 |
13-32900641-T-G |
c.522T>G |
p.R174= |
Synonymous |
7/27 |
- |
4 |
13-32900641-GT-G |
c.522del |
p.Q175Rfs*10 |
Frameshift |
7/27 |
- |
3 |
13-32900642-C-T |
c.523C>T |
p.Q175* |
Nonsense |
7/27 |
- |
8 |
13-32900642-C-A |
c.523C>A |
p.Q175K |
Missense |
7/27 |
- |
3 |
13-32900642-C-G |
c.523C>G |
p.Q175E |
Missense |
7/27 |
- |
4 |
13-32900643-A-C |
c.524A>C |
p.Q175P |
Missense |
7/27 |
- |
3 |
13-32900643-A-G |
c.524A>G |
p.Q175R |
Missense |
7/27 |
- |
4 |
13-32900643-A-T |
c.524A>T |
p.Q175L |
Missense |
7/27 |
- |
3 |
13-32900644-G-A |
c.525G>A |
p.Q175= |
Synonymous |
7/27 |
- |
1 |
13-32900644-G-C |
c.525G>C |
p.Q175H |
Missense |
7/27 |
- |
3 |
13-32900644-G-T |
c.525G>T |
p.Q175H |
Missense |
7/27 |
- |
3 |
13-32900644-AG-A |
c.525del |
p.T176Hfs*9 |
Frameshift |
7/27 |
- |
1 |
13-32900645-A-G |
c.526A>G |
p.T176A |
Missense |
7/27 |
- |
8 |
13-32900645-GACA-G |
c.526_528del |
p.T176del |
InFrameDeletion |
7/27 |
- |
1 |
13-32900645-A-C |
c.526A>C |
p.T176P |
Missense |
7/27 |
- |
4 |
13-32900645-A-T |
c.526A>T |
p.T176S |
Missense |
7/27 |
- |
4 |
13-32900646-C-A |
c.527C>A |
p.T176K |
Missense |
7/27 |
- |
4 |
13-32900646-C-G |
c.527C>G |
p.T176R |
Missense |
7/27 |
- |
4 |
13-32900646-C-T |
c.527C>T |
p.T176I |
Missense |
7/27 |
- |
4 |
13-32900646-ACACC-A |
c.527_530del |
p.T176Kfs*8 |
Frameshift |
7/27 |
- |
2 |
13-32900648-C-A |
c.529C>A |
p.P177T |
Missense |
7/27 |
- |
3 |
13-32900648-C-G |
c.529C>G |
p.P177A |
Missense |
7/27 |
- |
3 |
13-32900648-C-T |
c.529C>T |
p.P177S |
Missense |
7/27 |
- |
4 |
13-32900649-C-A |
c.530C>A |
p.P177Q |
Missense |
7/27 |
- |
3 |
13-32900649-C-G |
c.530C>G |
p.P177R |
Missense |
7/27 |
- |
4 |
13-32900649-C-T |
c.530C>T |
p.P177L |
Missense |
7/27 |
- |
4 |
13-32900651-A-C |
c.532A>C |
p.K178Q |
Missense |
7/27 |
- |
7 |
13-32900651-A-G |
c.532A>G |
p.K178E |
Missense |
7/27 |
- |
4 |
13-32900651-A-T |
c.532A>T |
p.K178* |
Nonsense |
7/27 |
- |
1 |
13-32900652-A-G |
c.533A>G |
p.K178R |
Missense |
7/27 |
- |
6 |
13-32900652-A-C |
c.533A>C |
p.K178T |
Missense |
7/27 |
- |
3 |
13-32900652-A-T |
c.533A>T |
p.K178I |
Missense |
7/27 |
- |
3 |
13-32900649-C-CA |
c.534dup |
p.H179Tfs*4 |
Frameshift |
7/27 |
- |
1 |
13-32900653-A-G |
c.534A>G |
p.K178= |
Synonymous |
7/27 |
- |
5 |
13-32900649-CA-C |
c.534del |
p.K178Nfs*7 |
Frameshift |
7/27 |
- |
1 |
13-32900653-A-T |
c.534A>T |
p.K178N |
Missense |
7/27 |
- |
3 |
13-32900653-A-C |
c.534A>C |
p.K178N |
Missense |
7/27 |
- |
3 |
13-32900654-C-T |
c.535C>T |
p.H179Y |
Missense |
7/27 |
- |
8 |
13-32900654-C-G |
c.535C>G |
p.H179D |
Missense |
7/27 |
- |
4 |
13-32900654-C-A |
c.535C>A |
p.H179N |
Missense |
7/27 |
- |
4 |
13-32900654-CA-AC |
c.535_536delinsAC |
p.H179T |
Missense |
7/27 |
- |
1 |
13-32900655-A-G |
c.536A>G |
p.H179R |
Missense |
7/27 |
- |
19 |
13-32900655-A-T |
c.536A>T |
p.H179L |
Missense |
7/27 |
- |
7 |
13-32900655-A-C |
c.536A>C |
p.H179P |
Missense |
7/27 |
- |
4 |
13-32900655-A-AT |
c.537dup |
p.I180Yfs*3 |
Frameshift |
7/27 |
- |
5 |
13-32900656-T-A |
c.537T>A |
p.H179Q |
Missense |
7/27 |
- |
4 |
13-32900656-T-G |
c.537T>G |
p.H179Q |
Missense |
7/27 |
- |
5 |
13-32900657-A-G |
c.538A>G |
p.I180V |
Missense |
7/27 |
- |
7 |
13-32900654-CAT-C |
c.538_539del |
p.I180Ffs*2 |
Frameshift |
7/27 |
- |
12 |
13-32900657-A-C |
c.538A>C |
p.I180L |
Missense |
7/27 |
- |
4 |
13-32900657-A-T |
c.538A>T |
p.I180F |
Missense |
7/27 |
- |
8 |
13-32900658-T-G |
c.539T>G |
p.I180S |
Missense |
7/27 |
- |
5 |
13-32900658-T-TA |
c.539_540insA |
p.S181Ffs*2 |
Frameshift |
7/27 |
- |
1 |
13-32900658-T-C |
c.539T>C |
p.I180T |
Missense |
7/27 |
- |
18 |
13-32900658-T-A |
c.539T>A |
p.I180N |
Missense |
7/27 |
- |
3 |
13-32900659-T-G |
c.540T>G |
p.I180M |
Missense |
7/27 |
- |
3 |
13-32900660-T-A |
c.541T>A |
p.S181T |
Missense |
7/27 |
- |
5 |
13-32900657-AT-A |
c.541del |
p.S181Lfs*4 |
Frameshift |
7/27 |
- |
6 |
13-32900660-T-C |
c.541T>C |
p.S181P |
Missense |
7/27 |
- |
3 |
13-32900660-T-G |
c.541T>G |
p.S181A |
Missense |
7/27 |
- |
3 |
13-32900660-TCT-GAG |
c.541_543delinsGAG |
p.S181E |
Missense |
7/27 |
- |
1 |
13-32900661-C-T |
c.542C>T |
p.S181F |
Missense |
7/27 |
- |
9 |
13-32900661-TC-T |
c.542del |
p.S181Lfs*4 |
Frameshift |
7/27 |
- |
1 |
13-32900661-C-A |
c.542C>A |
p.S181Y |
Missense |
7/27 |
- |
3 |
13-32900661-C-G |
c.542C>G |
p.S181C |
Missense |
7/27 |
- |
3 |
13-32900663-G-A |
c.544G>A |
p.E182K |
Missense |
7/27 |
- |
6 |
13-32900663-G-C |
c.544G>C |
p.E182Q |
Missense |
7/27 |
- |
9 |
13-32900663-G-T |
c.544G>T |
p.E182* |
Nonsense |
7/27 |
- |
5 |
13-32900664-A-G |
c.545A>G |
p.E182G |
Missense |
7/27 |
- |
8 |
13-32900664-A-C |
c.545A>C |
p.E182A |
Missense |
7/27 |
- |
3 |
13-32900664-A-T |
c.545A>T |
p.E182V |
Missense |
7/27 |
- |
3 |
13-32900665-A-G |
c.546A>G |
p.E182= |
Synonymous |
7/27 |
- |
1 |
13-32900665-A-C |
c.546A>C |
p.E182D |
Missense |
7/27 |
- |
3 |
13-32900665-A-T |
c.546A>T |
p.E182D |
Missense |
7/27 |
- |
3 |
13-32900666-A-G |
c.547A>G |
p.S183G |
Missense |
7/27 |
- |
5 |
13-32900666-A-T |
c.547A>T |
p.S183C |
Missense |
7/27 |
- |
4 |
13-32900666-AGT-TGA |
c.547_549delinsTGA |
p.S183* |
Nonsense |
7/27 |
- |
1 |
13-32900666-A-C |
c.547A>C |
p.S183R |
Missense |
7/27 |
- |
3 |
13-32900663-GA-G |
c.547del |
p.S183Vfs*2 |
Frameshift |
7/27 |
- |
2 |
13-32900667-G-A |
c.548G>A |
p.S183N |
Missense |
7/27 |
- |
11 |
13-32900667-G-C |
c.548G>C |
p.S183T |
Missense |
7/27 |
- |
5 |
13-32900667-G-T |
c.548G>T |
p.S183I |
Missense |
7/27 |
- |
4 |
13-32900668-T-C |
c.549T>C |
p.S183= |
Synonymous |
7/27 |
- |
3 |
13-32900668-T-A |
c.549T>A |
p.S183R |
Missense |
7/27 |
- |
4 |
13-32900668-T-G |
c.549T>G |
p.S183R |
Missense |
7/27 |
- |
3 |
13-32900669-CTA-TGG |
c.550_552delinsTGG |
p.L184W |
Missense |
7/27 |
- |
2 |
13-32900669-C-G |
c.550C>G |
p.L184V |
Missense |
7/27 |
- |
9 |
13-32900669-C-A |
c.550C>A |
p.L184I |
Missense |
7/27 |
- |
3 |
13-32900670-T-C |
c.551T>C |
p.L184P |
Missense |
7/27 |
- |
22 |
13-32900670-T-A |
c.551T>A |
p.L184Q |
Missense |
7/27 |
- |
3 |
13-32900670-T-G |
c.551T>G |
p.L184R |
Missense |
7/27 |
- |
3 |
13-32900671-A-T |
c.552A>T |
p.L184= |
Synonymous |
7/27 |
- |
1 |
13-32900671-A-G |
c.552A>G |
p.L184= |
Synonymous |
7/27 |
- |
2 |
13-32900671-A-C |
c.552A>C |
p.L184= |
Synonymous |
7/27 |
- |
1 |
13-32900669-C-T |
c.550C>T |
p.L184= |
Synonymous |
7/27 |
- |
2 |
13-32900672-G-T |
c.553G>T |
p.G185* |
Nonsense |
7/27 |
- |
2 |
13-32900672-G-A |
c.553G>A |
p.G185R |
Missense |
7/27 |
- |
5 |
13-32900672-G-C |
c.553G>C |
p.G185R |
Missense |
7/27 |
- |
3 |
13-32900672-GGA-AGC |
c.553_555delinsAGC |
p.G185S |
Missense |
7/27 |
- |
1 |
13-32900673-G-T |
c.554G>T |
p.G185V |
Missense |
7/27 |
- |
8 |
13-32900673-G-A |
c.554G>A |
p.G185E |
Missense |
7/27 |
- |
6 |
13-32900673-G-C |
c.554G>C |
p.G185A |
Missense |
7/27 |
- |
4 |
13-32900671-AG-A |
c.554del |
p.G185Efs*14 |
Frameshift |
7/27 |
- |
1 |
13-32900674-A-T |
c.555A>T |
p.G185= |
Synonymous |
7/27 |
- |
1 |
13-32900674-A-G |
c.555A>G |
p.G185= |
Synonymous |
7/27 |
- |
1 |
13-32900674-A-C |
c.555A>C |
p.G185= |
Synonymous |
7/27 |
- |
1 |
13-32900675-G-T |
c.556G>T |
p.A186S |
Missense |
7/27 |
- |
7 |
13-32900675-G-A |
c.556G>A |
p.A186T |
Missense |
7/27 |
- |
10 |
13-32900675-G-C |
c.556G>C |
p.A186P |
Missense |
7/27 |
- |
8 |
13-32900676-C-T |
c.557C>T |
p.A186V |
Missense |
7/27 |
- |
7 |
13-32900676-C-A |
c.557C>A |
p.A186D |
Missense |
7/27 |
- |
4 |
13-32900676-C-G |
c.557C>G |
p.A186G |
Missense |
7/27 |
- |
3 |
13-32900678-G-T |
c.559G>T |
p.E187* |
Nonsense |
7/27 |
- |
6 |
13-32900678-G-A |
c.559G>A |
p.E187K |
Missense |
7/27 |
- |
19 |
13-32900678-G-C |
c.559G>C |
p.E187Q |
Missense |
7/27 |
- |
4 |
13-32900679-A-G |
c.560A>G |
p.E187G |
Missense |
7/27 |
- |
3 |
13-32900679-A-C |
c.560A>C |
p.E187A |
Missense |
7/27 |
- |
3 |
13-32900679-A-T |
c.560A>T |
p.E187V |
Missense |
7/27 |
- |
3 |
13-32900680-G-A |
c.561G>A |
p.E187= |
Synonymous |
7/27 |
- |
4 |
13-32900680-G-T |
c.561G>T |
p.E187D |
Missense |
7/27 |
- |
6 |
13-32900680-G-C |
c.561G>C |
p.E187D |
Missense |
7/27 |
- |
8 |
13-32900681-G-A |
c.562G>A |
p.V188M |
Missense |
7/27 |
- |
9 |
13-32900681-G-GA |
c.562_563insA |
p.V188Dfs*4 |
Frameshift |
7/27 |
- |
1 |
13-32900681-G-C |
c.562G>C |
p.V188L |
Missense |
7/27 |
- |
4 |
13-32900681-G-T |
c.562G>T |
p.V188L |
Missense |
7/27 |
- |
4 |
13-32900682-T-A |
c.563T>A |
p.V188E |
Missense |
7/27 |
- |
3 |
13-32900682-T-C |
c.563T>C |
p.V188A |
Missense |
7/27 |
- |
3 |
13-32900682-T-G |
c.563T>G |
p.V188G |
Missense |
7/27 |
- |
4 |
13-32900683-G-A |
c.564G>A |
p.V188= |
Synonymous |
7/27 |
- |
1 |
13-32900683-G-T |
c.564G>T |
p.V188= |
Synonymous |
7/27 |
- |
1 |
13-32900684-G-A |
c.565G>A |
p.D189N |
Missense |
7/27 |
- |
10 |
13-32900684-G-C |
c.565G>C |
p.D189H |
Missense |
7/27 |
- |
11 |
13-32900684-G-T |
c.565G>T |
p.D189Y |
Missense |
7/27 |
- |
7 |
13-32900682-T-TG |
c.565dup |
p.D189Gfs*3 |
Frameshift |
7/27 |
- |
2 |
13-32900685-A-G |
c.566A>G |
p.D189G |
Missense |
7/27 |
- |
9 |
13-32900685-A-T |
c.566A>T |
p.D189V |
Missense |
7/27 |
- |
7 |
13-32900685-A-C |
c.566A>C |
p.D189A |
Missense |
7/27 |
- |
4 |
13-32900685-A-AG |
c.566_567insG |
p.D189Efs*3 |
Frameshift |
7/27 |
- |
3 |
13-32900686-T-G |
c.567T>G |
p.D189E |
Missense |
7/27 |
- |
6 |
13-32900686-T-A |
c.567T>A |
p.D189E |
Missense |
7/27 |
- |
6 |
13-32900687-C-T |
c.568C>T |
p.P190S |
Missense |
7/27 |
- |
10 |
13-32900687-C-G |
c.568C>G |
p.P190A |
Missense |
7/27 |
- |
8 |
13-32900687-C-A |
c.568C>A |
p.P190T |
Missense |
7/27 |
- |
4 |
13-32900684-GATCCTGAT-G |
c.568_575del |
p.P190Vfs*13 |
Frameshift |
7/27 |
- |
3 |
13-32900687-C-CAACG |
c.568_569insAACG |
p.P190Qfs*3 |
Frameshift |
7/27 |
- |
3 |
13-32900687-CC-GT |
c.568_569delinsGT |
p.P190V |
Missense |
7/27 |
- |
1 |
13-32900688-C-T |
c.569C>T |
p.P190L |
Missense |
7/27 |
- |
12 |
13-32900688-C-A |
c.569C>A |
p.P190H |
Missense |
7/27 |
- |
5 |
13-32900688-C-G |
c.569C>G |
p.P190R |
Missense |
7/27 |
- |
3 |
13-32900688-C-CAACG |
c.569_570insAACG |
p.D191Tfs*2 |
Frameshift |
7/27 |
- |
4 |
13-32900688-CT-AA |
c.569_570delinsAA |
p.P190Q |
Missense |
7/27 |
- |
1 |
13-32900690-G-A |
c.571G>A |
p.D191N |
Missense |
7/27 |
- |
8 |
13-32900690-G-C |
c.571G>C |
p.D191H |
Missense |
7/27 |
- |
4 |
13-32900690-G-T |
c.571G>T |
p.D191Y |
Missense |
7/27 |
- |
5 |
13-32900690-GA-AC |
c.571_572delinsAC |
p.D191T |
Missense |
7/27 |
- |
1 |
13-32900691-A-T |
c.572A>T |
p.D191V |
Missense |
7/27 |
- |
17 |
13-32900691-A-G |
c.572A>G |
p.D191G |
Missense |
7/27 |
- |
12 |
13-32900691-A-CT |
c.572delinsCT |
p.D191Afs*15 |
Frameshift |
7/27 |
- |
4 |
13-32900691-A-C |
c.572A>C |
p.D191A |
Missense |
7/27 |
- |
3 |
13-32900692-T-C |
c.573T>C |
p.D191= |
Synonymous |
7/27 |
- |
5 |
13-32900692-T-A |
c.573T>A |
p.D191E |
Missense |
7/27 |
- |
6 |
13-32900692-T-G |
c.573T>G |
p.D191E |
Missense |
7/27 |
- |
3 |
13-32900690-GAT-G |
c.574_575del |
p.M192Vfs*13 |
Frameshift |
7/27 |
- |
16 |
13-32900692-T-TA |
c.574dup |
p.M192Nfs*14 |
Frameshift |
7/27 |
- |
6 |
13-32900693-A-G |
c.574A>G |
p.M192V |
Missense |
7/27 |
- |
6 |
13-32900693-A-C |
c.574A>C |
p.M192L |
Missense |
7/27 |
- |
3 |
13-32900693-A-T |
c.574A>T |
p.M192L |
Missense |
7/27 |
- |
3 |
13-32900694-T-C |
c.575T>C |
p.M192T |
Missense |
7/27 |
- |
26 |
13-32900694-T-A |
c.575T>A |
p.M192K |
Missense |
7/27 |
- |
3 |
13-32900694-T-G |
c.575T>G |
p.M192R |
Missense |
7/27 |
- |
3 |
13-32900695-TGTCTTGGTCAAGTTCTTTAGCTACACCACCCACC-T |
c.576_609del |
p.M192Ifs*8 |
Frameshift |
7/27 |
- |
1 |
13-32900695-G-A |
c.576G>A |
p.M192I |
Missense |
7/27 |
- |
6 |
13-32900695-G-C |
c.576G>C |
p.M192I |
Missense |
7/27 |
- |
3 |
13-32900695-G-T |
c.576G>T |
p.M192I |
Missense |
7/27 |
- |
4 |
13-32900696-T-G |
c.577T>G |
p.S193A |
Missense |
7/27 |
- |
8 |
13-32900696-TCT-GAG |
c.577_579delinsGAG |
p.S193E |
Missense |
7/27 |
- |
1 |
13-32900696-T-A |
c.577T>A |
p.S193T |
Missense |
7/27 |
- |
4 |
13-32900696-T-C |
c.577T>C |
p.S193P |
Missense |
7/27 |
- |
3 |
13-32900697-C-T |
c.578C>T |
p.S193F |
Missense |
7/27 |
- |
10 |
13-32900697-C-A |
c.578C>A |
p.S193Y |
Missense |
7/27 |
- |
3 |
13-32900697-C-G |
c.578C>G |
p.S193C |
Missense |
7/27 |
- |
4 |
13-32900698-T-G |
c.579T>G |
p.S193= |
Synonymous |
7/27 |
- |
1 |
13-32900698-T-C |
c.579T>C |
p.S193= |
Synonymous |
7/27 |
- |
1 |
13-32900698-T-A |
c.579T>A |
p.S193= |
Synonymous |
7/27 |
- |
1 |
13-32900699-T-G |
c.580T>G |
p.W194G |
Missense |
7/27 |
- |
5 |
13-32900699-T-A |
c.580T>A |
p.W194R |
Missense |
7/27 |
- |
5 |
13-32900699-T-C |
c.580T>C |
p.W194R |
Missense |
7/27 |
- |
5 |
13-32900700-G-A |
c.581G>A |
p.W194* |
Nonsense |
7/27 |
- |
19 |
13-32900701-G-A |
c.582G>A |
p.W194* |
Nonsense |
7/27 |
- |
27 |
13-32900700-G-C |
c.581G>C |
p.W194S |
Missense |
7/27 |
- |
9 |
13-32900700-G-T |
c.581G>T |
p.W194L |
Missense |
7/27 |
- |
4 |
13-32900701-G-T |
c.582G>T |
p.W194C |
Missense |
7/27 |
- |
4 |
13-32900701-G-C |
c.582G>C |
p.W194C |
Missense |
7/27 |
- |
3 |
13-32900702-T-C |
c.583T>C |
p.S195P |
Missense |
7/27 |
- |
6 |
13-32900702-GT-G |
c.583del |
p.S195Qfs*4 |
Frameshift |
7/27 |
- |
4 |
13-32900702-TC-AT |
c.583_584delinsAT |
p.S195I |
Missense |
7/27 |
- |
1 |
13-32900702-T-A |
c.583T>A |
p.S195T |
Missense |
7/27 |
- |
3 |
13-32900702-T-G |
c.583T>G |
p.S195A |
Missense |
7/27 |
- |
3 |
13-32900702-TC-CA |
c.583_584delinsCA |
p.S195Q |
Missense |
7/27 |
- |
1 |
13-32900703-C-G |
c.584C>G |
p.S195* |
Nonsense |
7/27 |
- |
8 |
13-32900703-C-A |
c.584C>A |
p.S195* |
Nonsense |
7/27 |
- |
1 |
13-32900703-C-T |
c.584C>T |
p.S195L |
Missense |
7/27 |
- |
4 |
13-32900705-A-C |
c.586A>C |
p.S196R |
Missense |
7/27 |
- |
3 |
13-32900705-A-G |
c.586A>G |
p.S196G |
Missense |
7/27 |
- |
3 |
13-32900705-A-T |
c.586A>T |
p.S196C |
Missense |
7/27 |
- |
3 |
13-32900705-AG-TT |
c.586_587delinsTT |
p.S196F |
Missense |
7/27 |
- |
1 |
13-32900706-G-T |
c.587G>T |
p.S196I |
Missense |
7/27 |
- |
21 |
13-32900706-G-A |
c.587G>A |
p.S196N |
Missense |
7/27 |
- |
17 |
13-32900706-G-C |
c.587G>C |
p.S196T |
Missense |
7/27 |
- |
8 |
13-32900707-T-C |
c.588T>C |
p.S196= |
Synonymous |
7/27 |
- |
3 |
13-32900707-T-A |
c.588T>A |
p.S196R |
Missense |
7/27 |
- |
3 |
13-32900707-T-G |
c.588T>G |
p.S196R |
Missense |
7/27 |
- |
3 |
13-32900708-T-C |
c.589T>C |
p.S197P |
Missense |
7/27 |
- |
6 |
13-32900708-T-G |
c.589T>G |
p.S197A |
Missense |
7/27 |
- |
6 |
13-32900708-T-A |
c.589T>A |
p.S197T |
Missense |
7/27 |
- |
3 |
13-32900709-C-T |
c.590C>T |
p.S197F |
Missense |
7/27 |
- |
7 |
13-32900709-C-G |
c.590C>G |
p.S197C |
Missense |
7/27 |
- |
9 |
13-32900709-C-A |
c.590C>A |
p.S197Y |
Missense |
7/27 |
- |
4 |
13-32900711-T-C |
c.592T>C |
p.L198= |
Synonymous |
7/27 |
- |
2 |
13-32900713-A-G |
c.594A>G |
p.L198= |
Synonymous |
7/27 |
- |
2 |
13-32900711-T-A |
c.592T>A |
p.L198I |
Missense |
7/27 |
- |
3 |
13-32900711-T-G |
c.592T>G |
p.L198V |
Missense |
7/27 |
- |
3 |
13-32900711-TT-GC |
c.592_593delinsGC |
p.L198A |
Missense |
7/27 |
- |
1 |
13-32900711-TT-AG |
c.592_593delinsAG |
p.L198R |
Missense |
7/27 |
- |
1 |
13-32900712-T-C |
c.593T>C |
p.L198S |
Missense |
7/27 |
- |
5 |
13-32900709-CT-C |
c.593del |
p.L198* |
Frameshift |
7/27 |
- |
1 |
13-32900712-T-A |
c.593T>A |
p.L198* |
Nonsense |
7/27 |
- |
1 |
13-32900712-T-G |
c.593T>G |
p.L198* |
Nonsense |
7/27 |
- |
1 |
13-32900712-TAGC-AGG |
c.593_596delinsAGG |
p.L198* |
Frameshift |
7/27 |
- |
2 |
13-32900713-A-C |
c.594A>C |
p.L198F |
Missense |
7/27 |
- |
3 |
13-32900713-A-T |
c.594A>T |
p.L198F |
Missense |
7/27 |
- |
3 |
13-32900712-T-TAGCTA |
c.594_598dup |
p.T200Kfs*13 |
Frameshift |
7/27 |
- |
1 |
13-32900714-G-A |
c.595G>A |
p.A199T |
Missense |
7/27 |
- |
10 |
13-32900714-G-C |
c.595G>C |
p.A199P |
Missense |
7/27 |
- |
9 |
13-32900714-G-T |
c.595G>T |
p.A199S |
Missense |
7/27 |
- |
4 |
13-32900713-A-AGCTAC |
c.595_599dup |
p.P201Lfs*12 |
Frameshift |
7/27 |
- |
1 |
13-32900711-TTAGC-T |
c.595_598del |
p.A199Hfs*11 |
Frameshift |
7/27 |
- |
2 |
13-32900715-GCTACACCACCCACCCTTAGTTCTACTGTGCTCATAGGTAATAATAGCAAATGTGTATTT-G |
c.596_631+23del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
7/27 |
7/26 |
1 |
13-32900715-C-T |
c.596C>T |
p.A199V |
Missense |
7/27 |
- |
8 |
13-32900715-C-A |
c.596C>A |
p.A199D |
Missense |
7/27 |
- |
4 |
13-32900715-C-G |
c.596C>G |
p.A199G |
Missense |
7/27 |
- |
3 |
13-32900717-A-G |
c.598A>G |
p.T200A |
Missense |
7/27 |
- |
13 |
13-32900717-A-C |
c.598A>C |
p.T200P |
Missense |
7/27 |
- |
3 |
13-32900717-A-T |
c.598A>T |
p.T200S |
Missense |
7/27 |
- |
3 |
13-32900718-C-T |
c.599C>T |
p.T200I |
Missense |
7/27 |
- |
21 |
13-32900718-C-A |
c.599C>A |
p.T200K |
Missense |
7/27 |
- |
9 |
13-32900718-C-G |
c.599C>G |
p.T200R |
Missense |
7/27 |
- |
3 |
13-32900718-C-CA |
c.600dup |
p.P201Tfs*5 |
Frameshift |
7/27 |
- |
1 |
13-32900720-C-A |
c.601C>A |
p.P201T |
Missense |
7/27 |
- |
4 |
13-32900720-C-G |
c.601C>G |
p.P201A |
Missense |
7/27 |
- |
7 |
13-32900720-C-T |
c.601C>T |
p.P201S |
Missense |
7/27 |
- |
9 |
13-32900721-C-G |
c.602C>G |
p.P201R |
Missense |
7/27 |
- |
8 |
13-32900721-C-T |
c.602C>T |
p.P201L |
Missense |
7/27 |
- |
6 |
13-32900721-C-A |
c.602C>A |
p.P201Q |
Missense |
7/27 |
- |
3 |
13-32900723-C-G |
c.604C>G |
p.P202A |
Missense |
7/27 |
- |
4 |
13-32900721-CACCCACCCTT-C |
c.604_613del |
p.P202Vfs*6 |
Frameshift |
7/27 |
- |
2 |
13-32900723-C-T |
c.604C>T |
p.P202S |
Missense |
7/27 |
- |
6 |
13-32900723-C-A |
c.604C>A |
p.P202T |
Missense |
7/27 |
- |
3 |
13-32900724-C-T |
c.605C>T |
p.P202L |
Missense |
7/27 |
- |
12 |
13-32900724-C-A |
c.605C>A |
p.P202H |
Missense |
7/27 |
- |
3 |
13-32900724-C-G |
c.605C>G |
p.P202R |
Missense |
7/27 |
- |
3 |
13-32900726-A-G |
c.607A>G |
p.T203A |
Missense |
7/27 |
- |
8 |
13-32900726-AC-TT |
c.607_608delinsTT |
p.T203F |
Missense |
7/27 |
- |
1 |
13-32900726-AC-TA |
c.607_608delinsTA |
p.T203Y |
Missense |
7/27 |
- |
1 |
13-32900726-A-C |
c.607A>C |
p.T203P |
Missense |
7/27 |
- |
3 |
13-32900726-A-T |
c.607A>T |
p.T203S |
Missense |
7/27 |
- |
3 |
13-32900723-CCCA-C |
c.607_609del |
p.T203del |
InFrameDeletion |
7/27 |
- |
1 |
13-32900719-ACCAC-A |
c.607_610del |
p.T203Lfs*7 |
Frameshift |
7/27 |
- |
1 |
13-32900727-C-T |
c.608C>T |
p.T203I |
Missense |
7/27 |
- |
5 |
13-32900727-C-A |
c.608C>A |
p.T203N |
Missense |
7/27 |
- |
10 |
13-32900727-C-G |
c.608C>G |
p.T203S |
Missense |
7/27 |
- |
3 |
13-32900728-C-T |
c.609C>T |
p.T203= |
Synonymous |
7/27 |
- |
1 |
13-32900726-AC-A |
c.610del |
p.S205Vfs*6 |
Frameshift |
7/27 |
- |
9 |
13-32900726-A-AC |
c.610dup |
p.L204Pfs*2 |
Frameshift |
7/27 |
- |
4 |
13-32900729-C-A |
c.610C>A |
p.L204I |
Missense |
7/27 |
- |
4 |
13-32900729-C-G |
c.610C>G |
p.L204V |
Missense |
7/27 |
- |
3 |
13-32900729-C-T |
c.610C>T |
p.L204F |
Missense |
7/27 |
- |
3 |
13-32900728-C-CCTTA |
c.610_613dup |
p.S205Tfs*2 |
Frameshift |
7/27 |
- |
1 |
13-32900730-T-G |
c.611T>G |
p.L204R |
Missense |
7/27 |
- |
4 |
13-32900730-T-A |
c.611T>A |
p.L204H |
Missense |
7/27 |
- |
3 |
13-32900730-T-C |
c.611T>C |
p.L204P |
Missense |
7/27 |
- |
3 |
13-32900731-T-G |
c.612T>G |
p.L204= |
Synonymous |
7/27 |
- |
1 |
13-32900731-T-A |
c.612T>A |
p.L204= |
Synonymous |
7/27 |
- |
1 |
13-32900731-T-C |
c.612T>C |
p.L204= |
Synonymous |
7/27 |
- |
1 |
13-32900731-T-TTGAG |
c.612_613insTGAG |
p.S205* |
Nonsense |
7/27 |
- |
3 |
13-32900732-A-G |
c.613A>G |
p.S205G |
Missense |
7/27 |
- |
4 |
13-32900732-TAG-T |
c.613_614del |
p.S205Ffs*9 |
Frameshift |
7/27 |
- |
2 |
13-32900732-A-C |
c.613A>C |
p.S205R |
Missense |
7/27 |
- |
6 |
13-32900732-A-T |
c.613A>T |
p.S205C |
Missense |
7/27 |
- |
3 |
13-32900732-A-ATGAG |
c.613_614insTGAG |
p.S205Mfs*11 |
Frameshift |
7/27 |
- |
3 |
13-32900732-AG-CT |
c.613_614inv |
p.S205L |
Missense |
7/27 |
- |
1 |
13-32900732-AG-GC |
c.613_614delinsGC |
p.S205A |
Missense |
7/27 |
- |
1 |
13-32900733-G-C |
c.614G>C |
p.S205T |
Missense |
7/27 |
- |
5 |
13-32900733-AG-A |
c.614del |
p.S205Ifs*6 |
Frameshift |
7/27 |
- |
5 |
13-32900733-G-T |
c.614G>T |
p.S205I |
Missense |
7/27 |
- |
4 |
13-32900733-G-A |
c.614G>A |
p.S205N |
Missense |
7/27 |
- |
3 |
13-32900734-T-C |
c.615T>C |
p.S205= |
Synonymous |
7/27 |
- |
1 |
13-32900734-T-G |
c.615T>G |
p.S205R |
Missense |
7/27 |
- |
10 |
13-32900734-T-A |
c.615T>A |
p.S205R |
Missense |
7/27 |
- |
6 |
13-32900735-T-A |
c.616T>A |
p.S206T |
Missense |
7/27 |
- |
3 |
13-32900735-T-C |
c.616T>C |
p.S206P |
Missense |
7/27 |
- |
3 |
13-32900735-T-G |
c.616T>G |
p.S206A |
Missense |
7/27 |
- |
3 |
13-32900735-TC-AA |
c.616_617delinsAA |
p.S206N |
Missense |
7/27 |
- |
1 |
13-32900735-TC-CT |
c.616_617delinsCT |
p.S206L |
Missense |
7/27 |
- |
1 |
13-32900736-C-G |
c.617C>G |
p.S206C |
Missense |
7/27 |
- |
19 |
13-32900736-C-A |
c.617C>A |
p.S206Y |
Missense |
7/27 |
- |
9 |
13-32900736-C-T |
c.617C>T |
p.S206F |
Missense |
7/27 |
- |
4 |
13-32900737-T-G |
c.618T>G |
p.S206= |
Synonymous |
7/27 |
- |
1 |
13-32900737-T-C |
c.618T>C |
p.S206= |
Synonymous |
7/27 |
- |
1 |
13-32900737-T-A |
c.618T>A |
p.S206= |
Synonymous |
7/27 |
- |
1 |
13-32900738-A-G |
c.619A>G |
p.T207A |
Missense |
7/27 |
- |
19 |
13-32900735-TCTA-T |
c.619_621del |
p.T207del |
InFrameDeletion |
7/27 |
- |
1 |
13-32900738-A-C |
c.619A>C |
p.T207P |
Missense |
7/27 |
- |
3 |
13-32900738-A-T |
c.619A>T |
p.T207S |
Missense |
7/27 |
- |
4 |
13-32900738-AC-GA |
c.619_620delinsGA |
p.T207D |
Missense |
7/27 |
- |
1 |
13-32900739-C-T |
c.620C>T |
p.T207I |
Missense |
7/27 |
- |
18 |
13-32900739-C-A |
c.620C>A |
p.T207N |
Missense |
7/27 |
- |
5 |
13-32900739-C-G |
c.620C>G |
p.T207S |
Missense |
7/27 |
- |
4 |
13-32900740-T-A |
c.621T>A |
p.T207= |
Synonymous |
7/27 |
- |
1 |
13-32900740-T-G |
c.621T>G |
p.T207= |
Synonymous |
7/27 |
- |
1 |
13-32900740-T-C |
c.621T>C |
p.T207= |
Synonymous |
7/27 |
- |
1 |
13-32900741-G-A |
c.622G>A |
p.V208M |
Missense |
7/27 |
- |
5 |
13-32900741-G-C |
c.622G>C |
p.V208L |
Missense |
7/27 |
- |
4 |
13-32900741-G-T |
c.622G>T |
p.V208L |
Missense |
7/27 |
- |
3 |
13-32900742-T-G |
c.623T>G |
p.V208G |
Missense |
7/27 |
- |
30 |
13-32900742-T-C |
c.623T>C |
p.V208A |
Missense |
7/27 |
- |
4 |
13-32900742-T-A |
c.623T>A |
p.V208E |
Missense |
7/27 |
- |
4 |
13-32900743-G-A |
c.624G>A |
p.V208= |
Synonymous |
7/27 |
- |
1 |
13-32900743-G-C |
c.624G>C |
p.V208= |
Synonymous |
7/27 |
- |
1 |
13-32900743-G-T |
c.624G>T |
p.V208= |
Synonymous |
7/27 |
- |
1 |
13-32900744-C-T |
c.625C>T |
p.L209F |
Missense |
7/27 |
- |
8 |
13-32900744-C-A |
c.625C>A |
p.L209I |
Missense |
7/27 |
- |
3 |
13-32900744-C-G |
c.625C>G |
p.L209V |
Missense |
7/27 |
- |
3 |
13-32900745-T-C |
c.626T>C |
p.L209P |
Missense |
7/27 |
- |
4 |
13-32900745-T-A |
c.626T>A |
p.L209H |
Missense |
7/27 |
- |
5 |
13-32900745-T-G |
c.626T>G |
p.L209R |
Missense |
7/27 |
- |
3 |
13-32900746-C-T |
c.627C>T |
p.L209= |
Synonymous |
7/27 |
- |
8 |
13-32900746-C-G |
c.627C>G |
p.L209= |
Synonymous |
7/27 |
- |
1 |
13-32900746-C-A |
c.627C>A |
p.L209= |
Synonymous |
7/27 |
- |
6 |
13-32900747-A-G |
c.628A>G |
p.I210V |
Missense |
7/27 |
- |
9 |
13-32900747-A-T |
c.628A>T |
p.I210L |
Missense |
7/27 |
- |
6 |
13-32900747-A-C |
c.628A>C |
p.I210L |
Missense |
7/27 |
- |
3 |
13-32900747-CATA-C |
c.628_630del |
p.I210del |
InFrameDeletion |
7/27 |
- |
1 |
13-32900748-T-C |
c.629T>C |
p.I210T |
Missense |
7/27 |
- |
8 |
13-32900748-T-A |
c.629T>A |
p.I210K |
Missense |
7/27 |
- |
3 |
13-32900748-T-G |
c.629T>G |
p.I210R |
Missense |
7/27 |
- |
3 |
13-32900749-A-G |
c.630A>G |
p.I210M |
Missense |
7/27 |
- |
4 |
13-32900750-G-A |
c.631G>A |
p.V211I |
Missense |
7/27 |
- |
45 |
13-32900750-G-C |
c.631G>C |
p.V211L |
Missense |
7/27 |
- |
25 |
13-32900750-G-T |
c.631G>T |
p.V211F |
Missense |
7/27 |
- |
3 |
13-32900751-G-A |
c.631+1G>A |
- |
IntronicSNV |
- |
7/26 |
17 |
13-32900746-CATAGGTAATA-C |
c.631+1_631+10del |
- |
SpliceDonorDeletion |
- |
7/26 |
1 |
13-32900752-T-G |
c.631+2T>G |
- |
IntronicSNV |
- |
7/26 |
29 |
13-32900752-T-A |
c.631+2T>A |
- |
IntronicSNV |
- |
7/26 |
4 |
13-32900752-T-C |
c.631+2T>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900753-A-G |
c.631+3A>G |
- |
IntronicSNV |
- |
7/26 |
10 |
13-32900754-A-G |
c.631+4A>G |
- |
IntronicSNV |
- |
7/26 |
8 |
13-32900756-A-C |
c.631+6A>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900757-A-G |
c.631+7A>G |
- |
IntronicSNV |
- |
7/26 |
2 |
13-32900758-T-C |
c.631+8T>C |
- |
IntronicSNV |
- |
7/26 |
2 |
13-32900765-T-C |
c.631+15T>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900766-G-A |
c.631+16G>A |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900768-G-A |
c.631+18G>A |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900775-C-T |
c.631+25C>T |
- |
IntronicSNV |
- |
7/26 |
5 |
13-32900790-G-A |
c.631+40G>A |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900793-G-T |
c.631+43G>T |
- |
IntronicSNV |
- |
7/26 |
3 |
13-32900805-C-T |
c.631+55C>T |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900807-T-A |
c.631+57T>A |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900809-T-C |
c.631+59T>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900812-A-G |
c.631+62A>G |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900815-A-T |
c.631+65A>T |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900825-A-T |
c.631+75A>T |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900829-G-C |
c.631+79G>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900823-TAAAAGGAAATATG-T |
c.631+79_631+91del |
- |
IntronicDeletion |
- |
7/26 |
1 |
13-32900832-A-G |
c.631+82A>G |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900833-T-C |
c.631+83T>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900834-A-G |
c.631+84A>G |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900840-A-G |
c.631+90A>G |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900855-A-C |
c.631+105A>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900933-T-A |
c.631+183T>A |
- |
IntronicSNV |
- |
7/26 |
12 |
13-32901291-T-C |
c.631+541T>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32901401-G-A |
c.631+651G>A |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32901413-T-C |
c.631+663T>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32902394-T-C |
c.632-1186T>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903511-T-C |
c.632-69T>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903536-A-C |
c.632-44A>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903545-A-G |
c.632-35A>G |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903553-C-G |
c.632-27C>G |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903567-T-G |
c.632-13T>G |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903571-A-G |
c.632-9A>G |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903571-A-T |
c.632-9A>T |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903577-C-A |
c.632-3C>A |
- |
IntronicSNV |
- |
7/26 |
3 |
13-32903577-C-G |
c.632-3C>G |
- |
IntronicSNV |
- |
7/26 |
3 |
13-32903578-A-C |
c.632-2A>C |
- |
IntronicSNV |
- |
7/26 |
5 |
13-32903578-A-G |
c.632-2A>G |
- |
IntronicSNV |
- |
7/26 |
5 |
13-32903579-G-A |
c.632-1G>A |
- |
IntronicSNV |
- |
7/26 |
6 |
13-32903579-G-C |
c.632-1G>C |
- |
IntronicSNV |
- |
7/26 |
6 |
13-32903579-G-T |
c.632-1G>T |
- |
IntronicSNV |
- |
7/26 |
6 |
13-32903578-A-AG |
c.632-1dup |
- |
SpliceAcceptorInsertion |
- |
7/26 |
1 |
13-32903580-T-C |
c.632T>C |
p.V211A |
Missense |
8/27 |
- |
5 |
13-32903580-T-A |
c.632T>A |
p.V211D |
Missense |
8/27 |
- |
3 |
13-32903580-T-G |
c.632T>G |
p.V211G |
Missense |
8/27 |
- |
3 |
13-32903581-TC-T |
c.633del |
p.R212Efs*18 |
Frameshift |
8/27 |
- |
1 |
13-32903581-C-T |
c.633C>T |
p.V211= |
Synonymous |
8/27 |
- |
3 |
13-32903580-T-TC |
c.633dup |
p.R212Qfs*3 |
SpliceAcceptorInsertion |
8/27 |
- |
1 |
13-32903582-AG-CA |
c.634_635delinsCA |
p.R212Q |
Missense |
8/27 |
- |
1 |
13-32903582-A-T |
c.634A>T |
p.R212* |
Nonsense |
8/27 |
- |
4 |
13-32903582-A-G |
c.634A>G |
p.R212G |
Missense |
8/27 |
- |
6 |
13-32903582-AGA-TGG |
c.634_636delinsTGG |
p.R212W |
Missense |
8/27 |
- |
1 |
13-32903582-AGA-CAT |
c.634_636delinsCAT |
p.R212H |
Missense |
8/27 |
- |
2 |
13-32903582-AGA-TGT |
c.634_636delinsTGT |
p.R212C |
Missense |
8/27 |
- |
1 |
13-32903581-CAG-C |
c.635_636del |
p.R212Kfs*2 |
Frameshift |
8/27 |
- |
9 |
13-32903583-G-T |
c.635G>T |
p.R212I |
Missense |
8/27 |
- |
8 |
13-32903583-G-C |
c.635G>C |
p.R212T |
Missense |
8/27 |
- |
5 |
13-32903583-G-A |
c.635G>A |
p.R212K |
Missense |
8/27 |
- |
3 |
13-32903584-A-C |
c.636A>C |
p.R212S |
Missense |
8/27 |
- |
4 |
13-32903584-A-T |
c.636A>T |
p.R212S |
Missense |
8/27 |
- |
4 |
13-32903584-A-G |
c.636A>G |
p.R212= |
Synonymous |
8/27 |
- |
1 |
13-32903585-A-C |
c.637A>C |
p.N213H |
Missense |
8/27 |
- |
3 |
13-32903585-A-G |
c.637A>G |
p.N213D |
Missense |
8/27 |
- |
3 |
13-32903585-A-T |
c.637A>T |
p.N213Y |
Missense |
8/27 |
- |
3 |
13-32903587-TG-CT |
c.639_640delinsCT |
p.E214* |
MultiAAMissense |
8/27 |
- |
1 |
13-32903583-GA-G |
c.638del |
p.N213Mfs*17 |
Frameshift |
8/27 |
- |
1 |
13-32903586-A-C |
c.638A>C |
p.N213T |
Missense |
8/27 |
- |
3 |
13-32903586-A-G |
c.638A>G |
p.N213S |
Missense |
8/27 |
- |
3 |
13-32903586-A-T |
c.638A>T |
p.N213I |
Missense |
8/27 |
- |
3 |
13-32903586-AT-TG |
c.638_639delinsTG |
p.N213M |
Missense |
8/27 |
- |
1 |
13-32903585-A-AATGAAGAAG |
c.638_646dup |
p.E215_A216insDEE |
InFrameInsertion |
8/27 |
- |
1 |
13-32903587-T-A |
c.639T>A |
p.N213K |
Missense |
8/27 |
- |
7 |
13-32903587-T-G |
c.639T>G |
p.N213K |
Missense |
8/27 |
- |
4 |
13-32903588-G-A |
c.640G>A |
p.E214K |
Missense |
8/27 |
- |
4 |
13-32903588-G-C |
c.640G>C |
p.E214Q |
Missense |
8/27 |
- |
3 |
13-32903588-G-T |
c.640G>T |
p.E214* |
Nonsense |
8/27 |
- |
1 |
13-32903589-A-T |
c.641A>T |
p.E214V |
Missense |
8/27 |
- |
4 |
13-32903589-A-G |
c.641A>G |
p.E214G |
Missense |
8/27 |
- |
5 |
13-32903589-A-C |
c.641A>C |
p.E214A |
Missense |
8/27 |
- |
3 |
13-32903590-A-C |
c.642A>C |
p.E214D |
Missense |
8/27 |
- |
4 |
13-32903590-A-T |
c.642A>T |
p.E214D |
Missense |
8/27 |
- |
4 |
13-32903591-G-A |
c.643G>A |
p.E215K |
Missense |
8/27 |
- |
10 |
13-32903591-G-T |
c.643G>T |
p.E215* |
Nonsense |
8/27 |
- |
7 |
13-32903591-AG-A |
c.643del |
p.E215Kfs*15 |
Frameshift |
8/27 |
- |
1 |
13-32903591-G-C |
c.643G>C |
p.E215Q |
Missense |
8/27 |
- |
5 |
13-32903587-TGAA-T |
c.644_646del |
p.E215del |
InFrameDeletion |
8/27 |
- |
12 |
13-32903592-A-G |
c.644A>G |
p.E215G |
Missense |
8/27 |
- |
5 |
13-32903592-A-C |
c.644A>C |
p.E215A |
Missense |
8/27 |
- |
4 |
13-32903592-A-T |
c.644A>T |
p.E215V |
Missense |
8/27 |
- |
3 |
13-32903593-A-C |
c.645A>C |
p.E215D |
Missense |
8/27 |
- |
3 |
13-32903593-A-T |
c.645A>T |
p.E215D |
Missense |
8/27 |
- |
3 |
13-32903594-AG-A |
c.646del |
p.A216Hfs*14 |
Frameshift |
8/27 |
- |
2 |
13-32903594-G-T |
c.646G>T |
p.A216S |
Missense |
8/27 |
- |
8 |
13-32903592-AAGC-A |
c.646_648del |
p.A216del |
InFrameDeletion |
8/27 |
- |
1 |
13-32903594-G-A |
c.646G>A |
p.A216T |
Missense |
8/27 |
- |
4 |
13-32903594-G-C |
c.646G>C |
p.A216P |
Missense |
8/27 |
- |
5 |
13-32903595-C-A |
c.647C>A |
p.A216E |
Missense |
8/27 |
- |
4 |
13-32903595-C-G |
c.647C>G |
p.A216G |
Missense |
8/27 |
- |
3 |
13-32903595-C-T |
c.647C>T |
p.A216V |
Missense |
8/27 |
- |
4 |
13-32903596-A-G |
c.648A>G |
p.A216= |
Synonymous |
8/27 |
- |
2 |
13-32903596-A-AGACGAGGAG |
c.648_649insGACGAGGAG |
p.A216_S217insDEE |
InFrameInsertion |
8/27 |
- |
1 |
13-32903597-TC-CT |
c.649_650delinsCT |
p.S217L |
Missense |
8/27 |
- |
4 |
13-32903597-T-G |
c.649T>G |
p.S217A |
Missense |
8/27 |
- |
5 |
13-32903597-T-A |
c.649T>A |
p.S217T |
Missense |
8/27 |
- |
5 |
13-32903597-T-C |
c.649T>C |
p.S217P |
Missense |
8/27 |
- |
3 |
13-32903597-TCT-GAG |
c.649_651delinsGAG |
p.S217E |
Missense |
8/27 |
- |
1 |
13-32903598-C-T |
c.650C>T |
p.S217F |
Missense |
8/27 |
- |
4 |
13-32903598-C-A |
c.650C>A |
p.S217Y |
Missense |
8/27 |
- |
3 |
13-32903598-C-G |
c.650C>G |
p.S217C |
Missense |
8/27 |
- |
4 |
13-32903600-G-T |
c.652G>T |
p.E218* |
Nonsense |
8/27 |
- |
6 |
13-32903600-G-A |
c.652G>A |
p.E218K |
Missense |
8/27 |
- |
6 |
13-32903600-G-C |
c.652G>C |
p.E218Q |
Missense |
8/27 |
- |
4 |
13-32903601-A-G |
c.653A>G |
p.E218G |
Missense |
8/27 |
- |
4 |
13-32903601-A-C |
c.653A>C |
p.E218A |
Missense |
8/27 |
- |
4 |
13-32903601-A-T |
c.653A>T |
p.E218V |
Missense |
8/27 |
- |
3 |
13-32903602-A-T |
c.654A>T |
p.E218D |
Missense |
8/27 |
- |
4 |
13-32903602-A-G |
c.654A>G |
p.E218= |
Synonymous |
8/27 |
- |
1 |
13-32903602-A-C |
c.654A>C |
p.E218D |
Missense |
8/27 |
- |
3 |
13-32903603-A-C |
c.655A>C |
p.T219P |
Missense |
8/27 |
- |
3 |
13-32903603-A-G |
c.655A>G |
p.T219A |
Missense |
8/27 |
- |
4 |
13-32903603-A-T |
c.655A>T |
p.T219S |
Missense |
8/27 |
- |
3 |
13-32903604-C-T |
c.656C>T |
p.T219I |
Missense |
8/27 |
- |
6 |
13-32903604-ACTGTATT-A |
c.656_662del |
p.T219Ifs*9 |
Frameshift |
8/27 |
- |
2 |
13-32903604-C-G |
c.656C>G |
p.T219S |
Missense |
8/27 |
- |
3 |
13-32903604-C-A |
c.656C>A |
p.T219N |
Missense |
8/27 |
- |
3 |
13-32903605-CT-C |
c.657del |
p.V220Yfs*10 |
Frameshift |
8/27 |
- |
3 |
13-32903604-CTG-C |
c.658_659del |
p.V220Ifs*4 |
Frameshift |
8/27 |
- |
92 |
13-32903606-G-A |
c.658G>A |
p.V220I |
Missense |
8/27 |
- |
9 |
13-32903606-G-C |
c.658G>C |
p.V220L |
Missense |
8/27 |
- |
4 |
13-32903606-G-T |
c.658G>T |
p.V220L |
Missense |
8/27 |
- |
5 |
13-32903604-CTGTAT-C |
c.658_662del |
p.V220Sfs*3 |
Frameshift |
8/27 |
- |
1 |
13-32903607-T-A |
c.659T>A |
p.V220E |
Missense |
8/27 |
- |
4 |
13-32903607-T-C |
c.659T>C |
p.V220A |
Missense |
8/27 |
- |
3 |
13-32903607-T-G |
c.659T>G |
p.V220G |
Missense |
8/27 |
- |
3 |
13-32903608-A-G |
c.660A>G |
p.V220= |
Synonymous |
8/27 |
- |
1 |
13-32903609-T-A |
c.661T>A |
p.F221I |
Missense |
8/27 |
- |
3 |
13-32903609-T-C |
c.661T>C |
p.F221L |
Missense |
8/27 |
- |
4 |
13-32903609-T-G |
c.661T>G |
p.F221V |
Missense |
8/27 |
- |
3 |
13-32903608-ATT-A |
c.662_663del |
p.F221Sfs*3 |
Frameshift |
8/27 |
- |
7 |
13-32903610-T-A |
c.662T>A |
p.F221Y |
Missense |
8/27 |
- |
3 |
13-32903610-T-C |
c.662T>C |
p.F221S |
Missense |
8/27 |
- |
4 |
13-32903610-T-G |
c.662T>G |
p.F221C |
Missense |
8/27 |
- |
3 |
13-32903611-T-C |
c.663T>C |
p.F221= |
Synonymous |
8/27 |
- |
3 |
13-32903611-T-G |
c.663T>G |
p.F221L |
Missense |
8/27 |
- |
12 |
13-32903611-T-A |
c.663T>A |
p.F221L |
Missense |
8/27 |
- |
4 |
13-32903612-C-A |
c.664C>A |
p.P222T |
Missense |
8/27 |
- |
4 |
13-32903612-TCC-T |
c.664_665del |
p.P222Sfs*2 |
Frameshift |
8/27 |
- |
4 |
13-32903612-C-G |
c.664C>G |
p.P222A |
Missense |
8/27 |
- |
3 |
13-32903612-C-T |
c.664C>T |
p.P222S |
Missense |
8/27 |
- |
4 |
13-32903613-C-A |
c.665C>A |
p.P222H |
Missense |
8/27 |
- |
4 |
13-32903613-C-T |
c.665C>T |
p.P222L |
Missense |
8/27 |
- |
7 |
13-32903613-C-G |
c.665C>G |
p.P222R |
Missense |
8/27 |
- |
4 |
13-32903612-CCT-C |
c.666_667del |
p.H223* |
Frameshift |
8/27 |
- |
2 |
13-32903615-C-T |
c.667C>T |
p.H223Y |
Missense |
8/27 |
- |
12 |
13-32903615-C-G |
c.667C>G |
p.H223D |
Missense |
8/27 |
- |
5 |
13-32903615-C-A |
c.667C>A |
p.H223N |
Missense |
8/27 |
- |
3 |
13-32903616-A-C |
c.668A>C |
p.H223P |
Missense |
8/27 |
- |
4 |
13-32903616-A-G |
c.668A>G |
p.H223R |
Missense |
8/27 |
- |
4 |
13-32903616-A-T |
c.668A>T |
p.H223L |
Missense |
8/27 |
- |
3 |
13-32903615-C-CA |
c.668dup |
p.H223Qfs*2 |
Frameshift |
8/27 |
- |
1 |
13-32903616-CA-C |
c.668del |
p.H223Lfs*7 |
Frameshift |
8/27 |
- |
3 |
13-32903617-T-C |
c.669T>C |
p.H223= |
Synonymous |
8/27 |
- |
2 |
13-32903617-T-A |
c.669T>A |
p.H223Q |
Missense |
8/27 |
- |
3 |
13-32903617-T-G |
c.669T>G |
p.H223Q |
Missense |
8/27 |
- |
3 |
13-32903618-G-T |
c.670G>T |
p.D224Y |
Missense |
8/27 |
- |
4 |
13-32903618-G-A |
c.670G>A |
p.D224N |
Missense |
8/27 |
- |
9 |
13-32903615-CATG-C |
c.670_672del |
p.D224del |
InFrameDeletion |
8/27 |
- |
3 |
13-32903618-GAT-AAG |
c.670_672delinsAAG |
p.D224K |
Missense |
8/27 |
- |
1 |
13-32903618-G-C |
c.670G>C |
p.D224H |
Missense |
8/27 |
- |
4 |
13-32903617-T-TGATA |
c.670_673dup |
p.T225Rfs*5 |
Frameshift |
8/27 |
- |
1 |
13-32903619-A-G |
c.671A>G |
p.D224G |
Missense |
8/27 |
- |
4 |
13-32903619-A-T |
c.671A>T |
p.D224V |
Missense |
8/27 |
- |
8 |
13-32903619-A-C |
c.671A>C |
p.D224A |
Missense |
8/27 |
- |
7 |
13-32903620-T-C |
c.672T>C |
p.D224= |
Synonymous |
8/27 |
- |
1 |
13-32903620-AT-A |
c.672del |
p.D224Efs*6 |
Frameshift |
8/27 |
- |
1 |
13-32903618-GATACTACTGCTGTAAGTAAATATGACATTGATT-G |
c.672_681+23del |
- |
SpliceDonorDeletion |
8/27 |
8/26 |
3 |
13-32903620-T-A |
c.672T>A |
p.D224E |
Missense |
8/27 |
- |
3 |
13-32903620-T-G |
c.672T>G |
p.D224E |
Missense |
8/27 |
- |
3 |
13-32903621-A-G |
c.673A>G |
p.T225A |
Missense |
8/27 |
- |
15 |
13-32903621-TACTA-T |
c.673_676del |
p.T225Lfs*4 |
Frameshift |
8/27 |
- |
4 |
13-32903621-TA-T |
c.673del |
p.T225Lfs*5 |
Frameshift |
8/27 |
- |
1 |
13-32903621-A-C |
c.673A>C |
p.T225P |
Missense |
8/27 |
- |
3 |
13-32903621-A-T |
c.673A>T |
p.T225S |
Missense |
8/27 |
- |
3 |
13-32903621-AC-CT |
c.673_674delinsCT |
p.T225L |
Missense |
8/27 |
- |
1 |
13-32903622-C-A |
c.674C>A |
p.T225N |
Missense |
8/27 |
- |
4 |
13-32903622-AC-A |
c.674del |
p.T225Ifs*5 |
Frameshift |
8/27 |
- |
5 |
13-32903622-C-T |
c.674C>T |
p.T225I |
Missense |
8/27 |
- |
6 |
13-32903622-C-G |
c.674C>G |
p.T225S |
Missense |
8/27 |
- |
3 |
13-32903623-CT-C |
c.675del |
p.T226Lfs*4 |
Frameshift |
8/27 |
- |
1 |
13-32903624-TA-T |
c.676del |
p.T226Lfs*4 |
Frameshift |
8/27 |
- |
4 |
13-32903624-A-G |
c.676A>G |
p.T226A |
Missense |
8/27 |
- |
10 |
13-32903624-A-T |
c.676A>T |
p.T226S |
Missense |
8/27 |
- |
4 |
13-32903624-A-C |
c.676A>C |
p.T226P |
Missense |
8/27 |
- |
3 |
13-32903624-AC-CA |
c.676_677delinsCA |
p.T226H |
Missense |
8/27 |
- |
1 |
13-32903625-AC-A |
c.677del |
p.T226Mfs*4 |
Frameshift |
8/27 |
- |
7 |
13-32903625-C-T |
c.677C>T |
p.T226I |
Missense |
8/27 |
- |
6 |
13-32903625-C-G |
c.677C>G |
p.T226S |
Missense |
8/27 |
- |
3 |
13-32903625-C-A |
c.677C>A |
p.T226N |
Missense |
8/27 |
- |
3 |
13-32903625-CT-GG |
c.677_678delinsGG |
p.T226R |
Missense |
8/27 |
- |
1 |
13-32903626-T-C |
c.678T>C |
p.T226= |
Synonymous |
8/27 |
- |
1 |
13-32903626-T-A |
c.678T>A |
p.T226= |
Synonymous |
8/27 |
- |
1 |
13-32903626-T-G |
c.678T>G |
p.T226= |
Synonymous |
8/27 |
- |
1 |
13-32903627-G-A |
c.679G>A |
p.A227T |
Missense |
8/27 |
- |
13 |
13-32903627-G-C |
c.679G>C |
p.A227P |
Missense |
8/27 |
- |
10 |
13-32903627-G-T |
c.679G>T |
p.A227S |
Missense |
8/27 |
- |
4 |
13-32903626-T-TG |
c.679dup |
p.A227Gfs*2 |
SpliceDonorInsertion |
8/27 |
- |
1 |
13-32903628-C-T |
c.680C>T |
p.A227V |
Missense |
8/27 |
- |
16 |
13-32903628-C-A |
c.680C>A |
p.A227D |
Missense |
8/27 |
- |
3 |
13-32903628-C-G |
c.680C>G |
p.A227G |
Missense |
8/27 |
- |
3 |
13-32903629-T-A |
c.681T>A |
p.A227= |
Synonymous |
8/27 |
- |
1 |
13-32903629-T-C |
c.681T>C |
p.A227= |
Synonymous |
8/27 |
- |
3 |
13-32903629-T-G |
c.681T>G |
p.A227= |
Synonymous |
8/27 |
- |
1 |
13-32903628-C-CT |
c.681dup |
p.N228* |
SpliceDonorInsertion |
- |
- |
1 |
13-32903630-G-A |
c.681+1G>A |
- |
IntronicSNV |
- |
8/26 |
7 |
13-32903630-G-T |
c.681+1G>T |
- |
IntronicSNV |
- |
8/26 |
2 |
13-32903630-G-GT |
c.681+2dup |
- |
IntronicInsertion |
- |
8/26 |
4 |
13-32903632-A-G |
c.681+3A>G |
- |
IntronicSNV |
- |
8/26 |
2 |
13-32903633-A-G |
c.681+4A>G |
- |
IntronicSNV |
- |
8/26 |
5 |
13-32903633-A-T |
c.681+4A>T |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903634-G-C |
c.681+5G>C |
- |
IntronicSNV |
- |
8/26 |
2 |
13-32903636-A-T |
c.681+7A>T |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903638-A-G |
c.681+9A>G |
- |
IntronicSNV |
- |
8/26 |
2 |
13-32903640-A-T |
c.681+11A>T |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903672-A-G |
c.681+43A>G |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903679-G-A |
c.681+50G>A |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903683-G-C |
c.681+54G>C |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903685-C-G |
c.681+56C>G |
- |
IntronicSNV |
- |
8/26 |
15 |
13-32903685-C-T |
c.681+56C>T |
- |
IntronicSNV |
- |
8/26 |
34 |
13-32903687-T-A |
c.681+58T>A |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903698-T-C |
c.681+69T>C |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903706-C-G |
c.681+77C>G |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903712-T-A |
c.681+83T>A |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903724-C-A |
c.681+95C>A |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903724-CTG-C |
c.681+97_681+98del |
- |
IntronicDeletion |
- |
8/26 |
1 |
13-32903734-T-G |
c.681+105T>G |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903797-C-A |
c.681+168C>A |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32904072-C-T |
c.681+443C>T |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32904326-C-T |
c.681+697C>T |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32905005-A-G |
c.682-51A>G |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32905020-T-C |
c.682-36T>C |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32905024-A-G |
c.682-32A>G |
- |
IntronicSNV |
- |
8/26 |
3 |
13-32905026-A-C |
c.682-30A>C |
- |
IntronicSNV |
- |
8/26 |
2 |
13-32905031-T-C |
c.682-25T>C |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32905046-A-G |
c.682-10A>G |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32905054-A-C |
c.682-2A>C |
- |
IntronicSNV |
- |
8/26 |
3 |
13-32905054-A-G |
c.682-2A>G |
- |
IntronicSNV |
- |
8/26 |
3 |
13-32905055-G-C |
c.682-1G>C |
- |
IntronicSNV |
- |
8/26 |
2 |
13-32905055-G-T |
c.682-1G>T |
- |
IntronicSNV |
- |
8/26 |
2 |
13-32905056-A-G |
c.682A>G |
p.N228D |
Missense |
9/27 |
- |
5 |
13-32905056-A-C |
c.682A>C |
p.N228H |
Missense |
9/27 |
- |
3 |
13-32905056-A-T |
c.682A>T |
p.N228Y |
Missense |
9/27 |
- |
3 |
13-32905056-GAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTAT-G |
c.682_740del |
p.N228Rfs*7 |
Unclassified |
9/27 |
- |
1 |
13-32905057-A-T |
c.683A>T |
p.N228I |
Missense |
9/27 |
- |
6 |
13-32905057-A-G |
c.683A>G |
p.N228S |
Missense |
9/27 |
- |
7 |
13-32905057-A-C |
c.683A>C |
p.N228T |
Missense |
9/27 |
- |
3 |
13-32905055-G-GA |
c.683dup |
p.N228Kfs*10 |
SpliceAcceptorInsertion |
9/27 |
- |
1 |
13-32905055-GA-G |
c.683del |
p.N228Mfs*2 |
Frameshift |
9/27 |
- |
1 |
13-32905058-T-G |
c.684T>G |
p.N228K |
Missense |
9/27 |
- |
4 |
13-32905058-T-A |
c.684T>A |
p.N228K |
Missense |
9/27 |
- |
4 |
13-32905058-AT-A |
c.684del |
p.N228Kfs*2 |
Frameshift |
9/27 |
- |
2 |
13-32905058-T-C |
c.684T>C |
p.N228= |
Synonymous |
9/27 |
- |
1 |
13-32905059-TG-T |
c.685del |
p.V229* |
Frameshift |
9/27 |
- |
3 |
13-32905059-G-T |
c.685G>T |
p.V229L |
Missense |
9/27 |
- |
4 |
13-32905059-G-A |
c.685G>A |
p.V229M |
Missense |
9/27 |
- |
7 |
13-32905059-G-C |
c.685G>C |
p.V229L |
Missense |
9/27 |
- |
3 |
13-32905060-T-A |
c.686T>A |
p.V229E |
Missense |
9/27 |
- |
3 |
13-32905060-T-C |
c.686T>C |
p.V229A |
Missense |
9/27 |
- |
4 |
13-32905060-T-G |
c.686T>G |
p.V229G |
Missense |
9/27 |
- |
3 |
13-32905061-G-T |
c.687G>T |
p.V229= |
Synonymous |
9/27 |
- |
1 |
13-32905062-A-G |
c.688A>G |
p.K230E |
Missense |
9/27 |
- |
6 |
13-32905062-A-T |
c.688A>T |
p.K230* |
Nonsense |
9/27 |
- |
8 |
13-32905062-A-C |
c.688A>C |
p.K230Q |
Missense |
9/27 |
- |
3 |
13-32905062-AA-GC |
c.688_689delinsGC |
p.K230A |
Missense |
9/27 |
- |
1 |
13-32905063-A-G |
c.689A>G |
p.K230R |
Missense |
9/27 |
- |
4 |
13-32905063-A-C |
c.689A>C |
p.K230T |
Missense |
9/27 |
- |
3 |
13-32905063-A-T |
c.689A>T |
p.K230I |
Missense |
9/27 |
- |
3 |
13-32905061-GAA-G |
c.690_691del |
p.S231Lfs*6 |
Frameshift |
9/27 |
- |
1 |
13-32905064-A-C |
c.690A>C |
p.K230N |
Missense |
9/27 |
- |
3 |
13-32905064-A-T |
c.690A>T |
p.K230N |
Missense |
9/27 |
- |
4 |
13-32905065-AG-CC |
c.691_692delinsCC |
p.S231P |
Missense |
9/27 |
- |
2 |
13-32905065-A-G |
c.691A>G |
p.S231G |
Missense |
9/27 |
- |
3 |
13-32905065-A-T |
c.691A>T |
p.S231C |
Missense |
9/27 |
- |
3 |
13-32905065-AGC-TGA |
c.691_693delinsTGA |
p.S231* |
Nonsense |
9/27 |
- |
2 |
13-32905065-AG-GC |
c.691_692delinsGC |
p.S231A |
Missense |
9/27 |
- |
1 |
13-32905066-G-T |
c.692G>T |
p.S231I |
Missense |
9/27 |
- |
4 |
13-32905066-G-C |
c.692G>C |
p.S231T |
Missense |
9/27 |
- |
7 |
13-32905066-G-A |
c.692G>A |
p.S231N |
Missense |
9/27 |
- |
7 |
13-32905065-A-C |
c.691A>C |
p.S231R |
Missense |
9/27 |
- |
6 |
13-32905067-C-G |
c.693C>G |
p.S231R |
Missense |
9/27 |
- |
5 |
13-32905067-C-A |
c.693C>A |
p.S231R |
Missense |
9/27 |
- |
5 |
13-32905067-C-T |
c.693C>T |
p.S231= |
Synonymous |
9/27 |
- |
1 |
13-32905068-T-C |
c.694T>C |
p.Y232H |
Missense |
9/27 |
- |
13 |
13-32905067-C-CT |
c.694dup |
p.Y232Lfs*6 |
Frameshift |
9/27 |
- |
4 |
13-32905068-T-A |
c.694T>A |
p.Y232N |
Missense |
9/27 |
- |
4 |
13-32905068-T-G |
c.694T>G |
p.Y232D |
Missense |
9/27 |
- |
3 |
13-32905069-A-G |
c.695A>G |
p.Y232C |
Missense |
9/27 |
- |
20 |
13-32905068-T-TA |
c.695dup |
p.Y232* |
Nonsense |
9/27 |
- |
1 |
13-32905069-A-C |
c.695A>C |
p.Y232S |
Missense |
9/27 |
- |
3 |
13-32905069-A-T |
c.695A>T |
p.Y232F |
Missense |
9/27 |
- |
3 |
13-32905070-T-C |
c.696T>C |
p.Y232= |
Synonymous |
9/27 |
- |
1 |
13-32905070-T-A |
c.696T>A |
p.Y232* |
Nonsense |
9/27 |
- |
3 |
13-32905070-T-G |
c.696T>G |
p.Y232* |
Nonsense |
9/27 |
- |
3 |
13-32905071-T-G |
c.697T>G |
p.F233V |
Missense |
9/27 |
- |
6 |
13-32905071-T-A |
c.697T>A |
p.F233I |
Missense |
9/27 |
- |
3 |
13-32905071-T-C |
c.697T>C |
p.F233L |
Missense |
9/27 |
- |
3 |
13-32905072-T-A |
c.698T>A |
p.F233Y |
Missense |
9/27 |
- |
3 |
13-32905072-T-C |
c.698T>C |
p.F233S |
Missense |
9/27 |
- |
3 |
13-32905072-T-G |
c.698T>G |
p.F233C |
Missense |
9/27 |
- |
3 |
13-32905069-ATT-A |
c.699_700del |
p.S234Qfs*3 |
Frameshift |
9/27 |
- |
1 |
13-32905073-T-A |
c.699T>A |
p.F233L |
Missense |
9/27 |
- |
3 |
13-32905073-T-G |
c.699T>G |
p.F233L |
Missense |
9/27 |
- |
4 |
13-32905069-AT-A |
c.700del |
p.S234Pfs*7 |
Frameshift |
9/27 |
- |
16 |
13-32905074-T-C |
c.700T>C |
p.S234P |
Missense |
9/27 |
- |
9 |
13-32905074-T-A |
c.700T>A |
p.S234T |
Missense |
9/27 |
- |
3 |
13-32905074-T-G |
c.700T>G |
p.S234A |
Missense |
9/27 |
- |
4 |
13-32905075-C-G |
c.701C>G |
p.S234C |
Missense |
9/27 |
- |
4 |
13-32905075-C-A |
c.701C>A |
p.S234Y |
Missense |
9/27 |
- |
3 |
13-32905075-C-T |
c.701C>T |
p.S234F |
Missense |
9/27 |
- |
3 |
13-32905074-TC-T |
c.702del |
p.N235Ifs*6 |
Frameshift |
9/27 |
- |
4 |
13-32905077-A-G |
c.703A>G |
p.N235D |
Missense |
9/27 |
- |
7 |
13-32905077-A-C |
c.703A>C |
p.N235H |
Missense |
9/27 |
- |
3 |
13-32905077-A-T |
c.703A>T |
p.N235Y |
Missense |
9/27 |
- |
3 |
13-32905078-A-G |
c.704A>G |
p.N235S |
Missense |
9/27 |
- |
9 |
13-32905078-A-C |
c.704A>C |
p.N235T |
Missense |
9/27 |
- |
3 |
13-32905078-A-T |
c.704A>T |
p.N235I |
Missense |
9/27 |
- |
4 |
13-32905079-T-G |
c.705T>G |
p.N235K |
Missense |
9/27 |
- |
8 |
13-32905079-T-A |
c.705T>A |
p.N235K |
Missense |
9/27 |
- |
3 |
13-32905079-AT-A |
c.705del |
p.H236Mfs*5 |
Frameshift |
9/27 |
- |
3 |
13-32905079-T-C |
c.705T>C |
p.N235= |
Synonymous |
9/27 |
- |
2 |
13-32905080-C-T |
c.706C>T |
p.H236Y |
Missense |
9/27 |
- |
6 |
13-32905080-C-A |
c.706C>A |
p.H236N |
Missense |
9/27 |
- |
3 |
13-32905080-C-G |
c.706C>G |
p.H236D |
Missense |
9/27 |
- |
3 |
13-32905080-CAT-ATG |
c.706_708inv |
p.H236M |
Missense |
9/27 |
- |
1 |
13-32905081-A-G |
c.707A>G |
p.H236R |
Missense |
9/27 |
- |
9 |
13-32905081-A-C |
c.707A>C |
p.H236P |
Missense |
9/27 |
- |
3 |
13-32905081-A-T |
c.707A>T |
p.H236L |
Missense |
9/27 |
- |
3 |
13-32905082-T-C |
c.708T>C |
p.H236= |
Synonymous |
9/27 |
- |
4 |
13-32905082-T-A |
c.708T>A |
p.H236Q |
Missense |
9/27 |
- |
3 |
13-32905082-T-G |
c.708T>G |
p.H236Q |
Missense |
9/27 |
- |
3 |
13-32905083-G-A |
c.709G>A |
p.D237N |
Missense |
9/27 |
- |
9 |
13-32905083-G-T |
c.709G>T |
p.D237Y |
Missense |
9/27 |
- |
6 |
13-32905083-G-C |
c.709G>C |
p.D237H |
Missense |
9/27 |
- |
3 |
13-32905084-A-G |
c.710A>G |
p.D237G |
Missense |
9/27 |
- |
14 |
13-32905084-A-C |
c.710A>C |
p.D237A |
Missense |
9/27 |
- |
6 |
13-32905084-A-T |
c.710A>T |
p.D237V |
Missense |
9/27 |
- |
10 |
13-32905085-T-G |
c.711T>G |
p.D237E |
Missense |
9/27 |
- |
4 |
13-32905080-CATG-C |
c.711_713del |
p.D237del |
InFrameDeletion |
9/27 |
- |
3 |
13-32905085-T-A |
c.711T>A |
p.D237E |
Missense |
9/27 |
- |
3 |
13-32905085-AT-A |
c.711del |
p.D237Efs*4 |
Frameshift |
9/27 |
- |
1 |
13-32905086-G-T |
c.712G>T |
p.E238* |
Nonsense |
9/27 |
- |
10 |
13-32905086-G-A |
c.712G>A |
p.E238K |
Missense |
9/27 |
- |
9 |
13-32905086-G-C |
c.712G>C |
p.E238Q |
Missense |
9/27 |
- |
8 |
13-32905085-T-TG |
c.712dup |
p.E238Gfs*7 |
Frameshift |
9/27 |
- |
3 |
13-32905087-A-C |
c.713A>C |
p.E238A |
Missense |
9/27 |
- |
4 |
13-32905087-A-G |
c.713A>G |
p.E238G |
Missense |
9/27 |
- |
3 |
13-32905087-A-T |
c.713A>T |
p.E238V |
Missense |
9/27 |
- |
3 |
13-32905088-A-C |
c.714A>C |
p.E238D |
Missense |
9/27 |
- |
3 |
13-32905088-A-T |
c.714A>T |
p.E238D |
Missense |
9/27 |
- |
3 |
13-32905087-A-AAAG |
c.714_716dup |
p.E238_S239insR |
InFrameInsertion |
9/27 |
- |
3 |
13-32905088-A-G |
c.714A>G |
p.E238= |
Synonymous |
9/27 |
- |
1 |
13-32905089-A-G |
c.715A>G |
p.S239G |
Missense |
9/27 |
- |
5 |
13-32905086-GA-G |
c.715del |
p.S239Vfs*2 |
Frameshift |
9/27 |
- |
5 |
13-32905086-G-GA |
c.715dup |
p.S239Kfs*6 |
Frameshift |
9/27 |
- |
5 |
13-32905089-A-T |
c.715A>T |
p.S239C |
Missense |
9/27 |
- |
4 |
13-32905089-AG-TA |
c.715_716delinsTA |
p.S239Y |
Missense |
9/27 |
- |
1 |
13-32905090-G-A |
c.716G>A |
p.S239N |
Missense |
9/27 |
- |
4 |
13-32905090-G-C |
c.716G>C |
p.S239T |
Missense |
9/27 |
- |
3 |
13-32905090-G-T |
c.716G>T |
p.S239I |
Missense |
9/27 |
- |
3 |
13-32905090-AG-A |
c.716del |
p.S239Ifs*2 |
Frameshift |
9/27 |
- |
1 |
13-32905091-T-G |
c.717T>G |
p.S239R |
Missense |
9/27 |
- |
4 |
13-32905091-T-A |
c.717T>A |
p.S239R |
Missense |
9/27 |
- |
4 |
13-32905089-A-C |
c.715A>C |
p.S239R |
Missense |
9/27 |
- |
4 |
13-32905091-T-C |
c.717T>C |
p.S239= |
Synonymous |
9/27 |
- |
1 |
13-32905091-T-TAGG |
c.717_718insAGG |
p.S239_L240insR |
InFrameInsertion |
9/27 |
- |
1 |
13-32905091-GT-G |
c.717del |
p.L240* |
Frameshift |
9/27 |
- |
1 |
13-32905092-C-A |
c.718C>A |
p.L240M |
Missense |
9/27 |
- |
3 |
13-32905092-C-G |
c.718C>G |
p.L240V |
Missense |
9/27 |
- |
3 |
13-32905090-GTC-G |
c.718_719del |
p.L240Efs*4 |
Frameshift |
9/27 |
- |
3 |
13-32905092-CT-GA |
c.718_719delinsGA |
p.L240E |
Missense |
9/27 |
- |
1 |
13-32905093-T-A |
c.719T>A |
p.L240Q |
Missense |
9/27 |
- |
3 |
13-32905093-T-C |
c.719T>C |
p.L240P |
Missense |
9/27 |
- |
3 |
13-32905093-T-G |
c.719T>G |
p.L240R |
Missense |
9/27 |
- |
3 |
13-32905092-C-CT |
c.719dup |
p.K241Efs*4 |
Frameshift |
9/27 |
- |
1 |
13-32905094-G-T |
c.720G>T |
p.L240= |
Synonymous |
9/27 |
- |
1 |
13-32905094-G-A |
c.720G>A |
p.L240= |
Synonymous |
9/27 |
- |
2 |
13-32905094-G-C |
c.720G>C |
p.L240= |
Synonymous |
9/27 |
- |
2 |
13-32905092-C-T |
c.718C>T |
p.L240= |
Synonymous |
9/27 |
- |
2 |
13-32905095-A-T |
c.721A>T |
p.K241* |
Nonsense |
9/27 |
- |
7 |
13-32905095-A-C |
c.721A>C |
p.K241Q |
Missense |
9/27 |
- |
3 |
13-32905095-A-G |
c.721A>G |
p.K241E |
Missense |
9/27 |
- |
4 |
13-32905094-GA-G |
c.722del |
p.K241Rfs*10 |
Frameshift |
9/27 |
- |
1 |
13-32905096-A-C |
c.722A>C |
p.K241T |
Missense |
9/27 |
- |
5 |
13-32905096-A-G |
c.722A>G |
p.K241R |
Missense |
9/27 |
- |
6 |
13-32905096-A-T |
c.722A>T |
p.K241M |
Missense |
9/27 |
- |
3 |
13-32905097-G-A |
c.723G>A |
p.K241= |
Synonymous |
9/27 |
- |
2 |
13-32905097-AG-A |
c.723del |
p.N243Mfs*8 |
Frameshift |
9/27 |
- |
4 |
13-32905097-G-C |
c.723G>C |
p.K241N |
Missense |
9/27 |
- |
4 |
13-32905097-G-T |
c.723G>T |
p.K241N |
Missense |
9/27 |
- |
5 |
13-32905097-GA-CT |
c.723_724delinsCT |
p.K241_K242delinsN* |
MultiAAMissense |
9/27 |
- |
1 |
13-32905098-A-G |
c.724A>G |
p.K242E |
Missense |
9/27 |
- |
4 |
13-32905098-A-T |
c.724A>T |
p.K242* |
Nonsense |
9/27 |
- |
2 |
13-32905098-A-C |
c.724A>C |
p.K242Q |
Missense |
9/27 |
- |
3 |
13-32905099-A-G |
c.725A>G |
p.K242R |
Missense |
9/27 |
- |
5 |
13-32905099-A-C |
c.725A>C |
p.K242T |
Missense |
9/27 |
- |
3 |
13-32905099-A-T |
c.725A>T |
p.K242I |
Missense |
9/27 |
- |
3 |
13-32905100-A-G |
c.726A>G |
p.K242= |
Synonymous |
9/27 |
- |
1 |
13-32905100-A-C |
c.726A>C |
p.K242N |
Missense |
9/27 |
- |
3 |
13-32905100-A-T |
c.726A>T |
p.K242N |
Missense |
9/27 |
- |
3 |
13-32905101-A-G |
c.727A>G |
p.N243D |
Missense |
9/27 |
- |
5 |
13-32905101-A-C |
c.727A>C |
p.N243H |
Missense |
9/27 |
- |
5 |
13-32905101-A-T |
c.727A>T |
p.N243Y |
Missense |
9/27 |
- |
3 |
13-32905097-G-GA |
c.728dup |
p.N243Kfs*2 |
Frameshift |
9/27 |
- |
4 |
13-32905102-A-C |
c.728A>C |
p.N243T |
Missense |
9/27 |
- |
3 |
13-32905102-A-G |
c.728A>G |
p.N243S |
Missense |
9/27 |
- |
3 |
13-32905102-A-T |
c.728A>T |
p.N243I |
Missense |
9/27 |
- |
3 |
13-32905102-A-AC |
c.728_729insC |
p.D244* |
Nonsense |
9/27 |
- |
3 |
13-32905103-ATGAT-A |
c.729_732del |
p.N243Kfs*7 |
Frameshift |
9/27 |
- |
13 |
13-32905103-ATG-A |
c.729_730del |
p.N243Kfs*2 |
Frameshift |
9/27 |
- |
1 |
13-32905103-T-A |
c.729T>A |
p.N243K |
Missense |
9/27 |
- |
4 |
13-32905103-T-G |
c.729T>G |
p.N243K |
Missense |
9/27 |
- |
3 |
13-32905102-A-AT |
c.729dup |
p.D244* |
Nonsense |
9/27 |
- |
3 |
13-32905103-T-TTAA |
c.729_730insTAA |
p.N243_D244ins* |
InFrameInsertion |
9/27 |
- |
2 |
13-32905103-T-TC |
c.729_730insC |
p.D244Rfs*2 |
Frameshift |
9/27 |
- |
3 |
13-32905104-G-A |
c.730G>A |
p.D244N |
Missense |
9/27 |
- |
13 |
13-32905104-G-T |
c.730G>T |
p.D244Y |
Missense |
9/27 |
- |
9 |
13-32905101-AATG-A |
c.730_732del |
p.D244del |
InFrameDeletion |
9/27 |
- |
1 |
13-32905104-G-C |
c.730G>C |
p.D244H |
Missense |
9/27 |
- |
3 |
13-32905105-A-G |
c.731A>G |
p.D244G |
Missense |
9/27 |
- |
8 |
13-32905105-A-C |
c.731A>C |
p.D244A |
Missense |
9/27 |
- |
4 |
13-32905105-A-T |
c.731A>T |
p.D244V |
Missense |
9/27 |
- |
3 |
13-32905106-T-A |
c.732T>A |
p.D244E |
Missense |
9/27 |
- |
3 |
13-32905106-T-G |
c.732T>G |
p.D244E |
Missense |
9/27 |
- |
3 |
13-32905107-A-G |
c.733A>G |
p.R245G |
Missense |
9/27 |
- |
11 |
13-32905107-A-T |
c.733A>T |
p.R245* |
Nonsense |
9/27 |
- |
6 |
13-32905107-AGA-TGG |
c.733_735delinsTGG |
p.R245W |
Missense |
9/27 |
- |
2 |
13-32905107-TA-T |
c.733del |
p.R245Dfs*6 |
Frameshift |
9/27 |
- |
3 |
13-32905107-AG-GC |
c.733_734delinsGC |
p.R245A |
Missense |
9/27 |
- |
1 |
13-32905107-AGA-CAT |
c.733_735delinsCAT |
p.R245H |
Missense |
9/27 |
- |
2 |
13-32905108-G-A |
c.734G>A |
p.R245K |
Missense |
9/27 |
- |
7 |
13-32905108-G-C |
c.734G>C |
p.R245T |
Missense |
9/27 |
- |
8 |
13-32905108-G-T |
c.734G>T |
p.R245I |
Missense |
9/27 |
- |
4 |
13-32905109-A-C |
c.735A>C |
p.R245S |
Missense |
9/27 |
- |
10 |
13-32905109-A-T |
c.735A>T |
p.R245S |
Missense |
9/27 |
- |
3 |
13-32905110-T-G |
c.736T>G |
p.F246V |
Missense |
9/27 |
- |
5 |
13-32905106-TAGATTTATCGCTTCTGTGAC-T |
c.736_755del |
p.F246Qfs*2 |
Frameshift |
9/27 |
- |
6 |
13-32905110-T-A |
c.736T>A |
p.F246I |
Missense |
9/27 |
- |
3 |
13-32905110-T-C |
c.736T>C |
p.F246L |
Missense |
9/27 |
- |
5 |
13-32905111-T-G |
c.737T>G |
p.F246C |
Missense |
9/27 |
- |
4 |
13-32905111-T-A |
c.737T>A |
p.F246Y |
Missense |
9/27 |
- |
4 |
13-32905111-T-C |
c.737T>C |
p.F246S |
Missense |
9/27 |
- |
3 |
13-32905109-AT-A |
c.738del |
p.F246Lfs*5 |
Frameshift |
9/27 |
- |
8 |
13-32905112-T-C |
c.738T>C |
p.F246= |
Synonymous |
9/27 |
- |
1 |
13-32905112-T-A |
c.738T>A |
p.F246L |
Missense |
9/27 |
- |
7 |
13-32905112-T-G |
c.738T>G |
p.F246L |
Missense |
9/27 |
- |
5 |
13-32905111-TTA-T |
c.739_740del |
p.I247Rfs*7 |
Frameshift |
9/27 |
- |
4 |
13-32905112-T-TA |
c.739dup |
p.I247Nfs*8 |
Frameshift |
9/27 |
- |
1 |
13-32905113-A-G |
c.739A>G |
p.I247V |
Missense |
9/27 |
- |
10 |
13-32905113-A-C |
c.739A>C |
p.I247L |
Missense |
9/27 |
- |
3 |
13-32905113-A-T |
c.739A>T |
p.I247F |
Missense |
9/27 |
- |
3 |
13-32905113-A-AAG |
c.739_740insAG |
p.I247Kfs*5 |
Frameshift |
9/27 |
- |
3 |
13-32905114-T-C |
c.740T>C |
p.I247T |
Missense |
9/27 |
- |
10 |
13-32905114-T-A |
c.740T>A |
p.I247N |
Missense |
9/27 |
- |
3 |
13-32905114-T-G |
c.740T>G |
p.I247S |
Missense |
9/27 |
- |
3 |
13-32905114-TC-AG |
c.740_741delinsAG |
p.I247K |
Missense |
9/27 |
|