12-25358418-T-C |
c.*4311A>G |
- |
3-UTRSNV |
5/5 |
- |
3 |
12-25358422-C-CAA |
c.*4305_*4306dup |
- |
3-UTRInsertion |
5/5 |
- |
1 |
12-25358650-A-T |
c.*4079T>A |
- |
3-UTRSNV |
5/5 |
- |
13 |
12-25358828-T-G |
c.*3901A>C |
- |
3-UTRSNV |
5/5 |
- |
21 |
12-25358943-T-C |
c.*3786A>G |
- |
3-UTRSNV |
5/5 |
- |
14 |
12-25358969-T-G |
c.*3760A>C |
- |
3-UTRSNV |
5/5 |
- |
14 |
12-25359227-A-T |
c.*3502T>A |
- |
3-UTRSNV |
5/5 |
- |
2 |
12-25359328-A-T |
c.*3401T>A |
- |
3-UTRSNV |
5/5 |
- |
10 |
12-25359352-G-A |
c.*3377C>T |
- |
3-UTRSNV |
5/5 |
- |
13 |
12-25359577-C-T |
c.*3152G>A |
- |
3-UTRSNV |
5/5 |
- |
2 |
12-25359841-T-A |
c.*2888A>T |
- |
3-UTRSNV |
5/5 |
- |
18 |
12-25359841-T-C |
c.*2888A>G |
- |
3-UTRSNV |
5/5 |
- |
18 |
12-25359898-A-G |
c.*2831T>C |
- |
3-UTRSNV |
5/5 |
- |
1 |
12-25359898-A-T |
c.*2831T>A |
- |
3-UTRSNV |
5/5 |
- |
1 |
12-25359919-A-G |
c.*2810T>C |
- |
3-UTRSNV |
5/5 |
- |
1 |
12-25360138-T-C |
c.*2591A>G |
- |
3-UTRSNV |
5/5 |
- |
8 |
12-25360224-A-C |
c.*2505T>G |
- |
3-UTRSNV |
5/5 |
- |
106 |
12-25360545-T-C |
c.*2184A>G |
- |
3-UTRSNV |
5/5 |
- |
2 |
12-25360964-A-G |
c.*1765T>C |
- |
3-UTRSNV |
5/5 |
- |
1 |
12-25361074-G-A |
c.*1655C>T |
- |
3-UTRSNV |
5/5 |
- |
5 |
12-25361091-T-A |
c.*1638A>T |
- |
3-UTRSNV |
5/5 |
- |
11 |
12-25361091-T-C |
c.*1638A>G |
- |
3-UTRSNV |
5/5 |
- |
11 |
12-25361142-A-G |
c.*1587T>C |
- |
3-UTRSNV |
5/5 |
- |
13 |
12-25361646-T-C |
c.*1083A>G |
- |
3-UTRSNV |
5/5 |
- |
10 |
12-25361667-C-T |
c.*1062G>A |
- |
3-UTRSNV |
5/5 |
- |
1 |
12-25361756-C-A |
c.*973G>T |
- |
3-UTRSNV |
5/5 |
- |
4 |
12-25361905-A-G |
c.*824T>C |
- |
3-UTRSNV |
5/5 |
- |
2 |
12-25362126-T-C |
c.*603A>G |
- |
3-UTRSNV |
5/5 |
- |
1 |
12-25362217-A-G |
c.*512T>C |
- |
3-UTRSNV |
5/5 |
- |
32 |
12-25362465-G-A |
c.*264C>T |
- |
3-UTRSNV |
5/5 |
- |
14 |
12-25362465-G-C |
c.*264C>G |
- |
3-UTRSNV |
5/5 |
- |
14 |
12-25362552-A-C |
c.*177T>G |
- |
3-UTRSNV |
5/5 |
- |
68 |
12-25362557-A-G |
c.*172T>C |
- |
3-UTRSNV |
5/5 |
- |
1 |
12-25362732-C-T |
c.564G>A |
p.M188I |
Missense |
5/5 |
- |
2 |
12-25362732-CAT-C |
c.562_563del |
p.M188Vfs*23 |
Frameshift |
5/5 |
- |
1 |
12-25362734-T-C |
c.562A>G |
p.M188V |
Missense |
5/5 |
- |
2 |
12-25362735-A-C |
c.561T>G |
p.I187M |
Missense |
5/5 |
- |
1 |
12-25362735-A-G |
c.561T>C |
p.I187= |
Synonymous |
5/5 |
- |
1 |
12-25362735-A-T |
c.561T>A |
p.I187= |
Synonymous |
5/5 |
- |
1 |
12-25362736-A-G |
c.560T>C |
p.I187T |
Missense |
5/5 |
- |
3 |
12-25362736-A-T |
c.560T>A |
p.I187N |
Missense |
5/5 |
- |
2 |
12-25362736-AT-GC |
c.559_560delinsGC |
p.I187A |
Missense |
5/5 |
- |
1 |
12-25362737-T-C |
c.559A>G |
p.I187V |
Missense |
5/5 |
- |
12 |
12-25362739-A-G |
c.557T>C |
p.V186A |
Missense |
5/5 |
- |
1 |
12-25362739-A-T |
c.557T>A |
p.V186E |
Missense |
5/5 |
- |
1 |
12-25362740-C-A |
c.556G>T |
p.V186L |
Missense |
5/5 |
- |
1 |
12-25362740-C-G |
c.556G>C |
p.V186L |
Missense |
5/5 |
- |
1 |
12-25362740-C-T |
c.556G>A |
p.V186I |
Missense |
5/5 |
- |
2 |
12-25362741-A-T |
c.555T>A |
p.C185* |
Nonsense |
5/5 |
- |
1 |
12-25362741-CA-C |
c.555del |
p.C185Wfs*2 |
Frameshift |
5/5 |
- |
1 |
12-25362742-C-A |
c.554G>T |
p.C185F |
Missense |
5/5 |
- |
1 |
12-25362742-CA-GC |
c.553_554delinsGC |
p.C185A |
Missense |
5/5 |
- |
5 |
12-25362742-C-T |
c.554G>A |
p.C185Y |
Missense |
5/5 |
- |
1 |
12-25362742-C-G |
c.554G>C |
p.C185S |
Missense |
5/5 |
- |
17 |
12-25362743-A-T |
c.553T>A |
p.C185S |
Missense |
5/5 |
- |
17 |
12-25362744-ACTT-A |
c.550_552del |
p.K184del |
InFrameDeletion |
5/5 |
- |
1 |
12-25362744-C-A |
c.552G>T |
p.K184N |
Missense |
5/5 |
- |
2 |
12-25362744-C-G |
c.552G>C |
p.K184N |
Missense |
5/5 |
- |
2 |
12-25362744-CT-GA |
c.551_552delinsTC |
p.K184I |
Missense |
5/5 |
- |
1 |
12-25362745-T-A |
c.551A>T |
p.K184M |
Missense |
5/5 |
- |
1 |
12-25362745-T-C |
c.551A>G |
p.K184R |
Missense |
5/5 |
- |
1 |
12-25362745-T-G |
c.551A>C |
p.K184T |
Missense |
5/5 |
- |
2 |
12-25362745-TT-GC |
c.550_551delinsGC |
p.K184A |
Missense |
5/5 |
- |
1 |
12-25362745-TT-GG |
c.550_551delinsCC |
p.K184P |
Missense |
5/5 |
- |
1 |
12-25362746-T-A |
c.550A>T |
p.K184* |
Nonsense |
5/5 |
- |
1 |
12-25362746-T-C |
c.550A>G |
p.K184E |
Missense |
5/5 |
- |
2 |
12-25362745-TTTG-T |
c.548_550del |
p.T183del |
InFrameDeletion |
5/5 |
- |
1 |
12-25362747-TGT-ACA |
c.547_549inv |
p.T183C |
Missense |
5/5 |
- |
1 |
12-25362748-G-C |
c.548C>G |
p.T183R |
Missense |
5/5 |
- |
2 |
12-25362748-GT-TA |
c.547_548delinsTA |
p.T183* |
Nonsense |
5/5 |
- |
1 |
12-25362743-ACTTTGT-A |
c.547_552del |
p.T183_K184del |
InFrameDeletion |
5/5 |
- |
2 |
12-25362749-T-A |
c.547A>T |
p.T183S |
Missense |
5/5 |
- |
1 |
12-25362749-T-C |
c.547A>G |
p.T183A |
Missense |
5/5 |
- |
6 |
12-25362749-T-G |
c.547A>C |
p.T183P |
Missense |
5/5 |
- |
1 |
12-25362750-C-A |
c.546G>T |
p.K182N |
Missense |
5/5 |
- |
5 |
12-25362750-C-G |
c.546G>C |
p.K182N |
Missense |
5/5 |
- |
4 |
12-25362750-CT-GC |
c.545_546delinsGC |
p.K182S |
Missense |
5/5 |
- |
1 |
12-25362751-T-A |
c.545A>T |
p.K182M |
Missense |
5/5 |
- |
2 |
12-25362751-T-C |
c.545A>G |
p.K182R |
Missense |
5/5 |
- |
4 |
12-25362751-T-G |
c.545A>C |
p.K182T |
Missense |
5/5 |
- |
1 |
12-25362751-TT-AC |
c.544_545delinsGT |
p.K182V |
Missense |
5/5 |
- |
1 |
12-25362751-TT-GC |
c.544_545delinsGC |
p.K182A |
Missense |
5/5 |
- |
4 |
12-25362752-T-C |
c.544A>G |
p.K182E |
Missense |
5/5 |
- |
4 |
12-25362753-TG-AC |
c.542_543delinsGT |
p.S181C |
Missense |
5/5 |
- |
1 |
12-25362753-TGA-GTC |
c.541_543delinsGAC |
p.S181D |
Missense |
5/5 |
- |
9 |
12-25362754-G-A |
c.542C>T |
p.S181L |
Missense |
5/5 |
- |
2 |
12-25362754-GA-AT |
c.541_542delinsAT |
p.S181I |
Missense |
5/5 |
- |
1 |
12-25362754-GA-TC |
c.541_542inv |
p.S181E |
Missense |
5/5 |
- |
6 |
12-25362755-A-C |
c.541T>G |
p.S181A |
Missense |
5/5 |
- |
8 |
12-25362755-A-G |
c.541T>C |
p.S181P |
Missense |
5/5 |
- |
2 |
12-25362756-C-A |
c.540G>T |
p.K180N |
Missense |
5/5 |
- |
1 |
12-25362756-C-G |
c.540G>C |
p.K180N |
Missense |
5/5 |
- |
1 |
12-25362756-CT-GA |
c.539_540delinsTC |
p.K180I |
Missense |
5/5 |
- |
1 |
12-25362757-T-C |
c.539A>G |
p.K180R |
Missense |
5/5 |
- |
1 |
12-25362757-TT-GC |
c.538_539delinsGC |
p.K180A |
Missense |
5/5 |
- |
3 |
12-25362758-T-G |
c.538A>C |
p.K180Q |
Missense |
5/5 |
- |
2 |
12-25362755-ACTT-A |
c.538_540del |
p.K180del |
InFrameDeletion |
5/5 |
- |
2 |
12-25362759-C-A |
c.537G>T |
p.K179N |
Missense |
5/5 |
- |
1 |
12-25362759-C-G |
c.537G>C |
p.K179N |
Missense |
5/5 |
- |
1 |
12-25362759-C-T |
c.537G>A |
p.K179= |
Synonymous |
5/5 |
- |
2 |
12-25362760-T-A |
c.536A>T |
p.K179M |
Missense |
5/5 |
- |
2 |
12-25362760-T-C |
c.536A>G |
p.K179R |
Missense |
5/5 |
- |
8 |
12-25362760-TT-GC |
c.535_536delinsGC |
p.K179A |
Missense |
5/5 |
- |
2 |
12-25362761-T-G |
c.535A>C |
p.K179Q |
Missense |
5/5 |
- |
1 |
12-25362762-T-A |
c.534A>T |
p.K178N |
Missense |
5/5 |
- |
2 |
12-25362762-T-C |
c.534A>G |
p.K178= |
Synonymous |
5/5 |
- |
1 |
12-25362762-T-G |
c.534A>C |
p.K178N |
Missense |
5/5 |
- |
3 |
12-25362762-TTT-ACA |
c.532_534delinsTGT |
p.K178C |
Missense |
5/5 |
- |
1 |
12-25362763-T-C |
c.533A>G |
p.K178R |
Missense |
5/5 |
- |
2 |
12-25362764-T-G |
c.532A>C |
p.K178Q |
Missense |
5/5 |
- |
3 |
12-25362765-C-A |
c.531G>T |
p.K177N |
Missense |
5/5 |
- |
3 |
12-25362765-C-G |
c.531G>C |
p.K177N |
Missense |
5/5 |
- |
3 |
12-25362766-T-G |
c.530A>C |
p.K177T |
Missense |
5/5 |
- |
1 |
12-25362767-T-A |
c.529A>T |
p.K177* |
Nonsense |
5/5 |
- |
1 |
12-25362767-T-G |
c.529A>C |
p.K177Q |
Missense |
5/5 |
- |
3 |
12-25362762-TTTC-T |
c.531_533del |
p.K180del |
InFrameDeletion |
5/5 |
- |
16 |
12-25362768-C-A |
c.528G>T |
p.K176N |
Missense |
5/5 |
- |
1 |
12-25362768-C-G |
c.528G>C |
p.K176N |
Missense |
5/5 |
- |
1 |
12-25362769-T-A |
c.527A>T |
p.K176M |
Missense |
5/5 |
- |
1 |
12-25362769-T-C |
c.527A>G |
p.K176R |
Missense |
5/5 |
- |
4 |
12-25362769-T-G |
c.527A>C |
p.K176T |
Missense |
5/5 |
- |
1 |
12-25362770-T-C |
c.526A>G |
p.K176E |
Missense |
5/5 |
- |
1 |
12-25362770-T-G |
c.526A>C |
p.K176Q |
Missense |
5/5 |
- |
7 |
12-25362772-TT-GC |
c.523_524delinsGC |
p.K175A |
Missense |
5/5 |
- |
1 |
12-25362768-CT-C |
c.527del |
p.K176Rfs*11 |
Frameshift |
5/5 |
- |
1 |
12-25362773-T-A |
c.523A>T |
p.K175* |
Nonsense |
5/5 |
- |
1 |
12-25362773-T-G |
c.523A>C |
p.K175Q |
Missense |
5/5 |
- |
2 |
12-25362774-A-G |
c.522T>C |
p.G174= |
Synonymous |
5/5 |
- |
1 |
12-25362775-C-A |
c.521G>T |
p.G174V |
Missense |
5/5 |
- |
3 |
12-25362775-C-T |
c.521G>A |
p.G174D |
Missense |
5/5 |
- |
2 |
12-25362776-C-A |
c.520G>T |
p.G174C |
Missense |
5/5 |
- |
1 |
12-25362776-C-G |
c.520G>C |
p.G174R |
Missense |
5/5 |
- |
1 |
12-25362776-C-T |
c.520G>A |
p.G174S |
Missense |
5/5 |
- |
2 |
12-25362775-C-CCAAG |
c.520_521insCTTG |
p.G174Afs*3 |
Frameshift |
5/5 |
- |
1 |
12-25362777-A-G |
c.519T>C |
p.D173= |
Synonymous |
5/5 |
- |
54 |
12-25362777-A-T |
c.519T>A |
p.D173E |
Missense |
5/5 |
- |
22 |
12-25362777-CA-C |
c.519del |
p.D173Efs*14 |
Frameshift |
5/5 |
- |
1 |
12-25362778-T-C |
c.518A>G |
p.D173G |
Missense |
5/5 |
- |
1 |
12-25362778-TC-GG |
c.517_518delinsCC |
p.D173P |
Missense |
5/5 |
- |
2 |
12-25362778-T-G |
c.518A>C |
p.D173A |
Missense |
5/5 |
- |
1 |
12-25362779-C-A |
c.517G>T |
p.D173Y |
Missense |
5/5 |
- |
1 |
12-25362779-C-T |
c.517G>A |
p.D173N |
Missense |
5/5 |
- |
2 |
12-25362780-T-A |
c.516A>T |
p.K172N |
Missense |
5/5 |
- |
1 |
12-25362780-T-C |
c.516A>G |
p.K172= |
Synonymous |
5/5 |
- |
2 |
12-25362780-T-G |
c.516A>C |
p.K172N |
Missense |
5/5 |
- |
1 |
12-25362781-TT-CC |
c.514_515delinsGG |
p.K172G |
Missense |
5/5 |
- |
1 |
12-25362782-T-C |
c.514A>G |
p.K172E |
Missense |
5/5 |
- |
1 |
12-25362783-G-A |
c.513C>T |
p.S171= |
Synonymous |
5/5 |
- |
2 |
12-25362783-G-T |
c.513C>A |
p.S171R |
Missense |
5/5 |
- |
1 |
12-25362784-C-A |
c.512G>T |
p.S171I |
Missense |
5/5 |
- |
2 |
12-25362784-CT-AA |
c.511_512delinsTT |
p.S171F |
Missense |
5/5 |
- |
2 |
12-25362784-CT-GC |
c.511_512delinsGC |
p.S171A |
Missense |
5/5 |
- |
2 |
12-25362784-GC-G |
c.512del |
p.S171Tfs*16 |
Frameshift |
5/5 |
- |
1 |
12-25362784-C-CT |
c.511dup |
p.S171Kfs*5 |
Frameshift |
5/5 |
- |
2 |
12-25362785-CT-C |
c.511del |
p.S171Afs*16 |
Frameshift |
5/5 |
- |
1 |
12-25362785-T-A |
c.511A>T |
p.S171C |
Missense |
5/5 |
- |
2 |
12-25362785-T-C |
c.511A>G |
p.S171G |
Missense |
5/5 |
- |
2 |
12-25362786-C-A |
c.510G>T |
p.M170I |
Missense |
5/5 |
- |
2 |
12-25362786-C-G |
c.510G>C |
p.M170I |
Missense |
5/5 |
- |
2 |
12-25362786-C-T |
c.510G>A |
p.M170I |
Missense |
5/5 |
- |
2 |
12-25362787-AT-CC |
c.508_509delinsGG |
p.M170G |
Missense |
5/5 |
- |
1 |
12-25362788-T-A |
c.508A>T |
p.M170L |
Missense |
5/5 |
- |
2 |
12-25362789-C-A |
c.507G>T |
p.K169N |
Missense |
5/5 |
- |
2 |
12-25362789-C-G |
c.507G>C |
p.K169N |
Missense |
5/5 |
- |
2 |
12-25362789-CTT-ACA |
c.505_507delinsTGT |
p.K169C |
Missense |
5/5 |
- |
1 |
12-25362790-T-C |
c.506A>G |
p.K169R |
Missense |
5/5 |
- |
1 |
12-25362791-T-C |
c.505A>G |
p.K169E |
Missense |
5/5 |
- |
1 |
12-25362792-T-A |
c.504A>T |
p.E168D |
Missense |
5/5 |
- |
3 |
12-25362792-T-G |
c.504A>C |
p.E168D |
Missense |
5/5 |
- |
3 |
12-25362787-ATCTTT-A |
c.504_508del |
p.E168Dfs*6 |
Frameshift |
5/5 |
- |
1 |
12-25362793-T-C |
c.503A>G |
p.E168G |
Missense |
5/5 |
- |
2 |
12-25362793-TC-CT |
c.502_503delinsAG |
p.E168R |
Missense |
5/5 |
- |
3 |
12-25362794-C-A |
c.502G>T |
p.E168* |
Nonsense |
5/5 |
- |
2 |
12-25362794-C-T |
c.502G>A |
p.E168K |
Missense |
5/5 |
- |
2 |
12-25362795-T-C |
c.501A>G |
p.K167= |
Synonymous |
5/5 |
- |
1 |
12-25362795-TT-CA |
c.500_501delinsTG |
p.K167M |
Missense |
5/5 |
- |
1 |
12-25362796-T-C |
c.500A>G |
p.K167R |
Missense |
5/5 |
- |
1 |
12-25362796-T-G |
c.500A>C |
p.K167T |
Missense |
5/5 |
- |
1 |
12-25362797-T-A |
c.499A>T |
p.K167* |
Nonsense |
5/5 |
- |
1 |
12-25362797-T-C |
c.499A>G |
p.K167E |
Missense |
5/5 |
- |
1 |
12-25362796-TTA-T |
c.498_499del |
p.H166Qfs*9 |
Frameshift |
5/5 |
- |
1 |
12-25362799-T-A |
c.497A>T |
p.H166L |
Missense |
5/5 |
- |
1 |
12-25362800-G-A |
c.496C>T |
p.H166Y |
Missense |
5/5 |
- |
1 |
12-25362800-G-T |
c.496C>A |
p.H166N |
Missense |
5/5 |
- |
1 |
12-25362800-TG-T |
c.496del |
p.H166Ifs*5 |
Frameshift |
5/5 |
- |
1 |
12-25362801-T-C |
c.495A>G |
p.K165= |
Synonymous |
5/5 |
- |
2 |
12-25362802-T-C |
c.494A>G |
p.K165R |
Missense |
5/5 |
- |
1 |
12-25362802-TT-GC |
c.493_494delinsGC |
p.K165A |
Missense |
5/5 |
- |
2 |
12-25362803-T-C |
c.493A>G |
p.K165E |
Missense |
5/5 |
- |
3 |
12-25362803-T-G |
c.493A>C |
p.K165Q |
Missense |
5/5 |
- |
5 |
12-25362804-TC-AT |
c.491_492delinsAT |
p.R164H |
Missense |
5/5 |
- |
1 |
12-25362804-TCG-ACA |
c.490_492delinsTGT |
p.R164C |
Missense |
5/5 |
- |
1 |
12-25362804-TCG-CCA |
c.490_492delinsTGG |
p.R164W |
Missense |
5/5 |
- |
1 |
12-25362805-C-A |
c.491G>T |
p.R164L |
Missense |
5/5 |
- |
2 |
12-25362805-C-T |
c.491G>A |
p.R164Q |
Missense |
5/5 |
- |
32 |
12-25362806-G-A |
c.490C>T |
p.R164* |
Nonsense |
5/5 |
- |
11 |
12-25362806-G-C |
c.490C>G |
p.R164G |
Missense |
5/5 |
- |
1 |
12-25362806-G-T |
c.490C>A |
p.R164= |
Synonymous |
5/5 |
- |
1 |
12-25362807-A-G |
c.489T>C |
p.I163= |
Synonymous |
5/5 |
- |
2 |
12-25362807-A-T |
c.489T>A |
p.I163= |
Synonymous |
5/5 |
- |
2 |
12-25362807-GAAT-G |
c.487_489del |
p.I163del |
InFrameDeletion |
5/5 |
- |
1 |
12-25362808-A-C |
c.488T>G |
p.I163S |
Missense |
5/5 |
- |
1 |
12-25362808-A-G |
c.488T>C |
p.I163T |
Missense |
5/5 |
- |
2 |
12-25362809-T-C |
c.487A>G |
p.I163V |
Missense |
5/5 |
- |
2 |
12-25362810-T-A |
c.486A>T |
p.E162D |
Missense |
5/5 |
- |
1 |
12-25362810-T-G |
c.486A>C |
p.E162D |
Missense |
5/5 |
- |
1 |
12-25362811-T-A |
c.485A>T |
p.E162V |
Missense |
5/5 |
- |
1 |
12-25362812-C-A |
c.484G>T |
p.E162* |
Nonsense |
5/5 |
- |
5 |
12-25362812-C-G |
c.484G>C |
p.E162Q |
Missense |
5/5 |
- |
3 |
12-25362812-C-T |
c.484G>A |
p.E162K |
Missense |
5/5 |
- |
1 |
12-25362813-TC-AT |
c.482_483delinsAT |
p.R161H |
Missense |
5/5 |
- |
2 |
12-25362813-TCG-CAT |
c.481_483delinsATG |
p.R161M |
Missense |
5/5 |
- |
1 |
12-25362813-TCG-CCA |
c.481_483delinsTGG |
p.R161W |
Missense |
5/5 |
- |
2 |
12-25362813-TCG-GTC |
c.481_483delinsGAC |
p.R161D |
Missense |
5/5 |
- |
1 |
12-25362814-C-A |
c.482G>T |
p.R161L |
Missense |
5/5 |
- |
2 |
12-25362814-C-G |
c.482G>C |
p.R161P |
Missense |
5/5 |
- |
1 |
12-25362814-CG-AT |
c.481_482delinsAT |
p.R161I |
Missense |
5/5 |
- |
2 |
12-25362814-CG-GC |
c.481_482delinsGC |
p.R161A |
Missense |
5/5 |
- |
1 |
12-25362814-CG-TC |
c.481_482delinsGA |
p.R161E |
Missense |
5/5 |
- |
6 |
12-25362814-C-T |
c.482G>A |
p.R161Q |
Missense |
5/5 |
- |
2 |
12-25362813-T-A |
c.483A>T |
p.R161= |
Synonymous |
5/5 |
- |
28 |
12-25362813-T-C |
c.483A>G |
p.R161= |
Synonymous |
5/5 |
- |
28 |
12-25362813-T-G |
c.483A>C |
p.R161= |
Synonymous |
5/5 |
- |
28 |
12-25362815-G-A |
c.481C>T |
p.R161* |
Nonsense |
5/5 |
- |
7 |
12-25362815-G-C |
c.481C>G |
p.R161G |
Missense |
5/5 |
- |
3 |
12-25362815-G-T |
c.481C>A |
p.R161= |
Synonymous |
5/5 |
- |
28 |
12-25362816-AAC-CAT |
c.478_480delinsATG |
p.V160M |
Missense |
5/5 |
- |
5 |
12-25362816-A-C |
c.480T>G |
p.V160= |
Synonymous |
5/5 |
- |
1 |
12-25362816-A-G |
c.480T>C |
p.V160= |
Synonymous |
5/5 |
- |
1 |
12-25362816-A-T |
c.480T>A |
p.V160= |
Synonymous |
5/5 |
- |
1 |
12-25362817-A-G |
c.479T>C |
p.V160A |
Missense |
5/5 |
- |
5 |
12-25362818-C-A |
c.478G>T |
p.V160F |
Missense |
5/5 |
- |
1 |
12-25362818-C-G |
c.478G>C |
p.V160L |
Missense |
5/5 |
- |
1 |
12-25362818-C-T |
c.478G>A |
p.V160I |
Missense |
5/5 |
- |
4 |
12-25362818-C-CT |
c.477dup |
p.V160Sfs*8 |
Frameshift |
5/5 |
- |
1 |
12-25362819-T-A |
c.477A>T |
p.L159F |
Missense |
5/5 |
- |
1 |
12-25362819-T-G |
c.477A>C |
p.L159F |
Missense |
5/5 |
- |
1 |
12-25362820-A-G |
c.476T>C |
p.L159S |
Missense |
5/5 |
- |
2 |
12-25362821-A-G |
c.475T>C |
p.L159= |
Synonymous |
5/5 |
- |
1 |
12-25362822-TG-CA |
c.473_474inv |
p.T158M |
Missense |
5/5 |
- |
1 |
12-25362823-G-A |
c.473C>T |
p.T158I |
Missense |
5/5 |
- |
3 |
12-25362823-G-C |
c.473C>G |
p.T158R |
Missense |
5/5 |
- |
1 |
12-25362823-G-T |
c.473C>A |
p.T158K |
Missense |
5/5 |
- |
2 |
12-25362824-T-A |
c.472A>T |
p.T158S |
Missense |
5/5 |
- |
2 |
12-25362824-T-C |
c.472A>G |
p.T158A |
Missense |
5/5 |
- |
6 |
12-25362824-T-G |
c.472A>C |
p.T158P |
Missense |
5/5 |
- |
1 |
12-25362825-A-G |
c.471T>C |
p.Y157= |
Synonymous |
5/5 |
- |
2 |
12-25362826-TA-GC |
c.469_470delinsGC |
p.Y157A |
Missense |
5/5 |
- |
3 |
12-25362826-T-C |
c.470A>G |
p.Y157C |
Missense |
5/5 |
- |
4 |
12-25362826-T-G |
c.470A>C |
p.Y157S |
Missense |
5/5 |
- |
2 |
12-25362827-A-G |
c.469T>C |
p.Y157H |
Missense |
5/5 |
- |
1 |
12-25362829-A-G |
c.467T>C |
p.F156S |
Missense |
5/5 |
- |
1 |
12-25362829-A-T |
c.467T>A |
p.F156Y |
Missense |
5/5 |
- |
1 |
12-25362828-G-C |
c.468C>G |
p.F156L |
Missense |
5/5 |
- |
42 |
12-25362828-G-T |
c.468C>A |
p.F156L |
Missense |
5/5 |
- |
24 |
12-25362830-A-C |
c.466T>G |
p.F156V |
Missense |
5/5 |
- |
5 |
12-25362830-A-G |
c.466T>C |
p.F156L |
Missense |
5/5 |
- |
31 |
12-25362830-A-T |
c.466T>A |
p.F156I |
Missense |
5/5 |
- |
15 |
12-25362831-G-C |
c.465C>G |
p.A155= |
Synonymous |
5/5 |
- |
1 |
12-25362832-G-A |
c.464C>T |
p.A155V |
Missense |
5/5 |
- |
5 |
12-25362832-G-C |
c.464C>G |
p.A155G |
Missense |
5/5 |
- |
2 |
12-25362832-G-T |
c.464C>A |
p.A155D |
Missense |
5/5 |
- |
6 |
12-25362833-C-A |
c.463G>T |
p.A155S |
Missense |
5/5 |
- |
1 |
12-25362833-C-T |
c.463G>A |
p.A155T |
Missense |
5/5 |
- |
1 |
12-25362834-ATC-TTG |
c.460_462delinsCAA |
p.D154Q |
Missense |
5/5 |
- |
17 |
12-25362835-T-A |
c.461A>T |
p.D154V |
Missense |
5/5 |
- |
2 |
12-25362835-T-C |
c.461A>G |
p.D154G |
Missense |
5/5 |
- |
5 |
12-25362836-C-A |
c.460G>T |
p.D154Y |
Missense |
5/5 |
- |
5 |
12-25362836-C-T |
c.460G>A |
p.D154N |
Missense |
5/5 |
- |
8 |
12-25362837-A-C |
c.459T>G |
p.D153E |
Missense |
5/5 |
- |
2 |
12-25362837-A-T |
c.459T>A |
p.D153E |
Missense |
5/5 |
- |
2 |
12-25362837-ATC-CAT |
c.457_459delinsATG |
p.D153M |
Missense |
5/5 |
- |
1 |
12-25362832-GCAT-G |
c.461_463del |
p.D154del |
InFrameDeletion |
5/5 |
- |
7 |
12-25362837-A-AT |
c.458dup |
p.D153Efs*2 |
Frameshift |
5/5 |
- |
1 |
12-25362838-T-A |
c.458A>T |
p.D153V |
Missense |
5/5 |
- |
47 |
12-25362838-T-C |
c.458A>G |
p.D153G |
Missense |
5/5 |
- |
4 |
12-25362838-TC-CT |
c.457_458delinsAG |
p.D153S |
Missense |
5/5 |
- |
1 |
12-25362838-T-G |
c.458A>C |
p.D153A |
Missense |
5/5 |
- |
2 |
12-25362839-C-A |
c.457G>T |
p.D153Y |
Missense |
5/5 |
- |
2 |
12-25362839-C-T |
c.457G>A |
p.D153N |
Missense |
5/5 |
- |
9 |
12-25362840-A-C |
c.456T>G |
p.V152= |
Synonymous |
5/5 |
- |
1 |
12-25362840-A-G |
c.456T>C |
p.V152= |
Synonymous |
5/5 |
- |
1 |
12-25362840-A-T |
c.456T>A |
p.V152= |
Synonymous |
5/5 |
- |
1 |
12-25362838-TCAA-T |
c.455_457del |
p.V152del |
InFrameDeletion |
5/5 |
- |
1 |
12-25362841-A-C |
c.455T>G |
p.V152G |
Missense |
5/5 |
- |
14 |
12-25362841-A-G |
c.455T>C |
p.V152A |
Missense |
5/5 |
- |
3 |
12-25362842-AC-A |
c.454del |
p.V152Lfs*8 |
Frameshift |
5/5 |
- |
1 |
12-25362842-C-A |
c.454G>T |
p.V152F |
Missense |
5/5 |
- |
7 |
12-25362842-C-T |
c.454G>A |
p.V152I |
Missense |
5/5 |
- |
3 |
12-25362843-A-C |
c.453T>G |
p.G151= |
Synonymous |
5/5 |
- |
1 |
12-25362843-A-G |
c.453T>C |
p.G151= |
Synonymous |
5/5 |
- |
1 |
12-25362843-A-T |
c.453T>A |
p.G151= |
Synonymous |
5/5 |
- |
1 |
12-25362844-C-A |
c.452G>T |
p.G151V |
Missense |
5/5 |
- |
2 |
12-25362844-C-G |
c.452G>C |
p.G151A |
Missense |
5/5 |
- |
1 |
12-25362844-C-T |
c.452G>A |
p.G151D |
Missense |
5/5 |
- |
3 |
12-25362845-C-A |
c.451G>T |
p.G151C |
Missense |
5/5 |
- |
1 |
12-25362845-C-G |
c.451G>C |
p.G151R |
Missense |
5/5 |
- |
2 |
12-25362845-C-T |
c.451G>A |
p.G151S |
Missense |
5/5 |
- |
2 |
12-25362854-C-T |
c.451-9G>A |
- |
IntronicSNV |
- |
4/4 |
15 |
12-25362856-T-C |
c.451-11A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25363085-C-T |
c.451-240G>A |
- |
IntronicSNV |
- |
4/4 |
2 |
12-25363263-A-G |
c.451-418T>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25363389-T-A |
c.451-544A>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25364863-C-T |
c.451-2018G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25364978-T-C |
c.451-2133A>G |
- |
IntronicSNV |
- |
4/4 |
3 |
12-25365112-C-G |
c.451-2267G>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25365195-T-C |
c.451-2350A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25365223-A-G |
c.451-2378T>C |
- |
IntronicSNV |
- |
4/4 |
3 |
12-25365450-G-A |
c.451-2605C>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25365675-G-C |
c.451-2830C>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25365675-G-T |
c.451-2830C>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25365751-G-A |
c.451-2906C>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25365761-G-A |
c.451-2916C>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25365768-C-T |
c.451-2923G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25366021-T-C |
c.451-3176A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25366300-T-C |
c.451-3455A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25366660-T-C |
c.451-3815A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25366805-G-A |
c.451-3960C>T |
- |
IntronicSNV |
- |
4/4 |
4 |
12-25366902-T-C |
c.451-4057A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25367611-C-T |
c.451-4766G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25367624-A-C |
c.451-4779T>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25367653-C-T |
c.451-4808G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25367669-G-A |
c.451-4824C>T |
- |
IntronicSNV |
- |
4/4 |
3 |
12-25367838-A-C |
c.451-4993T>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25367966-C-G |
c.451-5121G>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368084-T-A |
c.451-5239A>T |
- |
IntronicSNV |
- |
4/4 |
3 |
12-25368084-T-C |
c.451-5239A>G |
- |
IntronicSNV |
- |
4/4 |
3 |
12-25368366-C-T |
c.451-5521G>A |
- |
IntronicSNV |
- |
4/4 |
2 |
12-25368380-T-G |
c.451-5535A>C |
- |
IntronicSNV |
- |
4/4 |
3 |
12-25368383-T-C |
c.451-5538A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368386-T-C |
c.451-5541A>G |
- |
IntronicSNV |
- |
4/4 |
2 |
12-25368387-G-A |
c.451-5542C>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368389-A-AT |
c.451-5545dup |
- |
IntronicInsertion |
- |
4/4 |
1 |
12-25368398-T-C |
c.451-5553A>G |
- |
IntronicSNV |
- |
4/4 |
2 |
12-25368401-T-C |
c.451-5556A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368405-A-T |
c.451-5560T>A |
- |
IntronicSNV |
- |
4/4 |
4 |
12-25368410-C-T |
c.451-5565G>A |
- |
IntronicSNV |
- |
4/4 |
4 |
12-25368413-G-A |
c.451-5568C>T |
- |
IntronicSNV |
- |
4/4 |
2 |
12-25368425-C-T |
c.451-5580G>A |
- |
IntronicSNV |
- |
4/4 |
3 |
12-25368431-T-A |
c.451-5586A>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368432-G-A |
c.451-5587C>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368432-G-C |
c.451-5587C>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368433-A-G |
c.451-5588T>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368437-T-C |
c.451-5592A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368449-A-G |
c.451-5604T>C |
- |
IntronicSNV |
- |
4/4 |
2 |
12-25368449-A-T |
c.451-5604T>A |
- |
IntronicSNV |
- |
4/4 |
2 |
12-25368451-T-C |
c.451-5606A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368455-G-A |
c.451-5610C>T |
- |
IntronicSNV |
- |
4/4 |
2 |
12-25368462-C-T |
c.451-5617G>A |
- |
IntronicSNV |
- |
4/4 |
44 |
12-25368466-A-G |
c.451-5621T>C |
- |
IntronicSNV |
- |
4/4 |
2 |
12-25368467-C-T |
c.451-5622G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368472-G-A |
c.451-5627C>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368473-T-G |
c.451-5628A>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368484-T-C |
c.451-5639A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25368774-G-A |
c.451-5929C>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25369027-C-T |
c.451-6182G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25369166-G-T |
c.451-6321C>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25369234-G-A |
c.451-6389C>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25369609-T-G |
c.451-6764A>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25369617-A-G |
c.451-6772T>C |
- |
IntronicSNV |
- |
4/4 |
2 |
12-25369703-T-C |
c.451-6858A>G |
- |
IntronicSNV |
- |
4/4 |
3 |
12-25370249-T-G |
c.451-7404A>C |
- |
IntronicSNV |
- |
4/4 |
2 |
12-25370426-C-T |
c.451-7581G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25371340-T-A |
c.450+7208A>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25371462-C-T |
c.450+7086G>A |
- |
IntronicSNV |
- |
4/4 |
2 |
12-25371855-T-TG |
c.450+6692_450+6693insC |
- |
IntronicInsertion |
- |
4/4 |
1 |
12-25371904-C-T |
c.450+6644G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25371956-C-T |
c.450+6592G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25372109-A-T |
c.450+6439T>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25372195-T-C |
c.450+6353A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25372593-T-C |
c.450+5955A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25372834-T-C |
c.450+5714A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25373126-T-C |
c.450+5422A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25373142-G-C |
c.450+5406C>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25373194-A-C |
c.450+5354T>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25373194-A-G |
c.450+5354T>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25373194-A-T |
c.450+5354T>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25373400-C-G |
c.450+5148G>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25373400-C-T |
c.450+5148G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25373630-C-T |
c.450+4918G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25373725-C-G |
c.450+4823G>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374176-T-C |
c.450+4372A>G |
- |
IntronicSNV |
- |
4/4 |
3 |
12-25374180-T-G |
c.450+4368A>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374185-G-T |
c.450+4363C>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374188-A-G |
c.450+4360T>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374189-C-T |
c.450+4359G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374190-A-G |
c.450+4358T>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374192-A-G |
c.450+4356T>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374195-C-T |
c.450+4353G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374197-C-T |
c.450+4351G>A |
- |
IntronicSNV |
- |
4/4 |
3 |
12-25374198-G-A |
c.450+4350C>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374201-C-T |
c.450+4347G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374202-CGGTCGT-C |
c.450+4341_450+4346del |
- |
IntronicDeletion |
- |
4/4 |
1 |
12-25374202-G-T |
c.450+4346C>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374205-C-T |
c.450+4343G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374206-CGT-C |
c.450+4341_450+4342del |
- |
IntronicDeletion |
- |
4/4 |
1 |
12-25374207-T-C |
c.450+4341A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374217-T-A |
c.450+4331A>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374223-C-A |
c.450+4325G>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374223-C-G |
c.450+4325G>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374228-T-A |
c.450+4320A>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374228-T-G |
c.450+4320A>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374229-T-C |
c.450+4319A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374235-G-C |
c.450+4313C>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374244-A-G |
c.450+4304T>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374247-G-A |
c.450+4301C>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374812-C-A |
c.450+3736G>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374812-C-T |
c.450+3736G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374917-A-G |
c.450+3631T>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25374933-T-A |
c.450+3615A>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25375061-C-T |
c.450+3487G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25375522-T-C |
c.450+3026A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25375799-C-A |
c.450+2749G>T |
- |
IntronicSNV |
- |
4/4 |
4 |
12-25375799-C-T |
c.450+2749G>A |
- |
IntronicSNV |
- |
4/4 |
4 |
12-25375946-G-C |
c.450+2602C>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25376000-G-A |
c.450+2548C>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25376216-C-T |
c.450+2332G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25376229-T-A |
c.450+2319A>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25376329-A-G |
c.450+2219T>C |
- |
IntronicSNV |
- |
4/4 |
2 |
12-25376475-T-C |
c.450+2073A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25377127-A-C |
c.450+1421T>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25377127-A-G |
c.450+1421T>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25377129-A-C |
c.450+1419T>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25377131-A-C |
c.450+1417T>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25377692-C-T |
c.450+856G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25378026-G-A |
c.450+522C>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25378280-GA-G |
c.450+267del |
- |
IntronicDeletion |
- |
4/4 |
1 |
12-25378290-TCCCCA-T |
c.450+253_450+257del |
- |
IntronicDeletion |
- |
4/4 |
1 |
12-25378456-T-C |
c.450+92A>G |
- |
IntronicSNV |
- |
4/4 |
5 |
12-25378464-T-C |
c.450+84A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25378482-T-C |
c.450+66A>G |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25378517-A-G |
c.450+31T>C |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25378547-C-A |
c.450+1G>T |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25378547-C-T |
c.450+1G>A |
- |
IntronicSNV |
- |
4/4 |
1 |
12-25378548-C-A |
c.450G>T |
p.Q150H |
Missense |
4/5 |
- |
1 |
12-25378548-C-T |
c.450G>A |
p.Q150= |
Synonymous |
4/5 |
- |
2 |
12-25378549-T-C |
c.449A>G |
p.Q150R |
Missense |
4/5 |
- |
2 |
12-25378549-TG-GA |
c.448_449delinsTC |
p.Q150S |
Missense |
4/5 |
- |
1 |
12-25378550-G-A |
c.448C>T |
p.Q150* |
Nonsense |
4/5 |
- |
3 |
12-25378551-T-C |
c.447A>G |
p.R149= |
Synonymous |
4/5 |
- |
1 |
12-25378551-TCT-ACA |
c.445_447delinsTGT |
p.R149C |
Missense |
4/5 |
- |
1 |
12-25378551-TCT-ATG |
c.445_447delinsCAT |
p.R149H |
Missense |
4/5 |
- |
2 |
12-25378551-TCT-CCA |
c.445_447delinsTGG |
p.R149W |
Missense |
4/5 |
- |
3 |
12-25378551-TCT-GTC |
c.445_447delinsGAC |
p.R149D |
Missense |
4/5 |
- |
1 |
12-25378553-T-G |
c.445A>C |
p.R149= |
Synonymous |
4/5 |
- |
1 |
12-25378552-C-A |
c.446G>T |
p.R149I |
Missense |
4/5 |
- |
4 |
12-25378552-C-T |
c.446G>A |
p.R149K |
Missense |
4/5 |
- |
4 |
12-25378553-T-C |
c.445A>G |
p.R149G |
Missense |
4/5 |
- |
7 |
12-25378554-T-A |
c.444A>T |
p.T148= |
Synonymous |
4/5 |
- |
1 |
12-25378554-T-C |
c.444A>G |
p.T148= |
Synonymous |
4/5 |
- |
3 |
12-25378554-T-G |
c.444A>C |
p.T148= |
Synonymous |
4/5 |
- |
1 |
12-25378555-G-A |
c.443C>T |
p.T148I |
Missense |
4/5 |
- |
2 |
12-25378555-G-C |
c.443C>G |
p.T148R |
Missense |
4/5 |
- |
1 |
12-25378555-GT-TC |
c.442_443delinsGA |
p.T148E |
Missense |
4/5 |
- |
1 |
12-25378556-T-A |
c.442A>T |
p.T148S |
Missense |
4/5 |
- |
2 |
12-25378556-T-C |
c.442A>G |
p.T148A |
Missense |
4/5 |
- |
5 |
12-25378556-T-G |
c.442A>C |
p.T148P |
Missense |
4/5 |
- |
1 |
12-25378557-C-A |
c.441G>T |
p.K147N |
Missense |
4/5 |
- |
9 |
12-25378557-C-G |
c.441G>C |
p.K147N |
Missense |
4/5 |
- |
9 |
12-25378557-C-T |
c.441G>A |
p.K147= |
Synonymous |
4/5 |
- |
2 |
12-25378557-CTT-ACA |
c.439_441delinsTGT |
p.K147C |
Missense |
4/5 |
- |
1 |
12-25378557-CTT-GTC |
c.439_441delinsGAC |
p.K147D |
Missense |
4/5 |
- |
2 |
12-25378558-T-C |
c.440A>G |
p.K147R |
Missense |
4/5 |
- |
12 |
12-25378558-T-G |
c.440A>C |
p.K147T |
Missense |
4/5 |
- |
1 |
12-25378558-TT-AG |
c.439_440delinsCT |
p.K147L |
Missense |
4/5 |
- |
3 |
12-25378558-TT-GC |
c.439_440delinsGC |
p.K147A |
Missense |
4/5 |
- |
2 |
12-25378559-T-C |
c.439A>G |
p.K147E |
Missense |
4/5 |
- |
24 |
12-25378559-T-G |
c.439A>C |
p.K147Q |
Missense |
4/5 |
- |
4 |
12-25378560-T-A |
c.438A>T |
p.A146= |
Synonymous |
4/5 |
- |
3 |
12-25378560-T-C |
c.438A>G |
p.A146= |
Synonymous |
4/5 |
- |
4 |
12-25378560-T-G |
c.438A>C |
p.A146= |
Synonymous |
4/5 |
- |
7 |
12-25378560-TGC-GTT |
c.436_438delinsAAC |
p.A146N |
Missense |
4/5 |
- |
1 |
12-25378560-TG-GT |
c.437_438delinsAC |
p.A146D |
Missense |
4/5 |
- |
2 |
12-25378561-G-A |
c.437C>T |
p.A146V |
Missense |
4/5 |
- |
293 |
12-25378561-G-C |
c.437C>G |
p.A146G |
Missense |
4/5 |
- |
8 |
12-25378561-GC-TA |
c.436_437delinsTA |
p.A146* |
Nonsense |
4/5 |
- |
8 |
12-25378561-GC-TT |
c.436_437delinsAA |
p.A146K |
Missense |
4/5 |
- |
1 |
12-25378561-G-T |
c.437C>A |
p.A146E |
Missense |
4/5 |
- |
7 |
12-25378562-C-A |
c.436G>T |
p.A146S |
Missense |
4/5 |
- |
28 |
12-25378562-C-G |
c.436G>C |
p.A146P |
Missense |
4/5 |
- |
164 |
12-25378562-C-T |
c.436G>A |
p.A146T |
Missense |
4/5 |
- |
587 |
12-25378562-GC-G |
c.436del |
p.A146Qfs*14 |
Frameshift |
4/5 |
- |
1 |
12-25378562-C-CT |
c.435dup |
p.A146Sfs*8 |
Frameshift |
4/5 |
- |
1 |
12-25378563-T-A |
c.435A>T |
p.S145= |
Synonymous |
4/5 |
- |
1 |
12-25378563-T-C |
c.435A>G |
p.S145= |
Synonymous |
4/5 |
- |
2 |
12-25378563-T-G |
c.435A>C |
p.S145= |
Synonymous |
4/5 |
- |
1 |
12-25378564-G-A |
c.434C>T |
p.S145L |
Missense |
4/5 |
- |
5 |
12-25378564-G-T |
c.434C>A |
p.S145* |
Nonsense |
4/5 |
- |
1 |
12-25378565-A-C |
c.433T>G |
p.S145A |
Missense |
4/5 |
- |
3 |
12-25378565-A-G |
c.433T>C |
p.S145P |
Missense |
4/5 |
- |
1 |
12-25378565-A-T |
c.433T>A |
p.S145T |
Missense |
4/5 |
- |
2 |
12-25378566-T-A |
c.432A>T |
p.T144= |
Synonymous |
4/5 |
- |
2 |
12-25378566-T-C |
c.432A>G |
p.T144= |
Synonymous |
4/5 |
- |
2 |
12-25378566-T-G |
c.432A>C |
p.T144= |
Synonymous |
4/5 |
- |
3 |
12-25378566-TG-GT |
c.431_432delinsAC |
p.T144N |
Missense |
4/5 |
- |
1 |
12-25378566-T-TG |
c.431dup |
p.S145Ifs*9 |
Frameshift |
4/5 |
- |
1 |
12-25378567-G-A |
c.431C>T |
p.T144I |
Missense |
4/5 |
- |
6 |
12-25378567-G-C |
c.431C>G |
p.T144R |
Missense |
4/5 |
- |
1 |
12-25378567-GT-TC |
c.430_431delinsGA |
p.T144E |
Missense |
4/5 |
- |
1 |
12-25378568-T-A |
c.430A>T |
p.T144S |
Missense |
4/5 |
- |
1 |
12-25378568-T-C |
c.430A>G |
p.T144A |
Missense |
4/5 |
- |
5 |
12-25378568-T-G |
c.430A>C |
p.T144P |
Missense |
4/5 |
- |
1 |
12-25378569-T-C |
c.429A>G |
p.E143= |
Synonymous |
4/5 |
- |
3 |
12-25378567-GT-G |
c.430del |
p.T144Hfs*16 |
Frameshift |
4/5 |
- |
2 |
12-25378570-T-C |
c.428A>G |
p.E143G |
Missense |
4/5 |
- |
3 |
12-25378571-C-A |
c.427G>T |
p.E143* |
Nonsense |
4/5 |
- |
1 |
12-25378571-C-T |
c.427G>A |
p.E143K |
Missense |
4/5 |
- |
5 |
12-25378572-A-G |
c.426T>C |
p.I142= |
Synonymous |
4/5 |
- |
1 |
12-25378572-A-T |
c.426T>A |
p.I142= |
Synonymous |
4/5 |
- |
1 |
12-25378573-A-G |
c.425T>C |
p.I142T |
Missense |
4/5 |
- |
2 |
12-25378573-A-T |
c.425T>A |
p.I142N |
Missense |
4/5 |
- |
1 |
12-25378575-A-G |
c.423T>C |
p.F141= |
Synonymous |
4/5 |
- |
2 |
12-25378575-A-T |
c.423T>A |
p.F141L |
Missense |
4/5 |
- |
7 |
12-25378576-AA-GC |
c.421_422delinsGC |
p.F141A |
Missense |
4/5 |
- |
1 |
12-25378576-A-G |
c.422T>C |
p.F141S |
Missense |
4/5 |
- |
2 |
12-25378576-A-T |
c.422T>A |
p.F141Y |
Missense |
4/5 |
- |
1 |
12-25378574-TAA-T |
c.422_423del |
p.F141Yfs*2 |
Frameshift |
4/5 |
- |
1 |
12-25378575-A-C |
c.423T>G |
p.F141L |
Missense |
4/5 |
- |
3 |
12-25378577-A-C |
c.421T>G |
p.F141V |
Missense |
4/5 |
- |
1 |
12-25378577-A-G |
c.421T>C |
p.F141L |
Missense |
4/5 |
- |
3 |
12-25378574-TA-T |
c.423del |
p.F141Lfs*19 |
Frameshift |
4/5 |
- |
1 |
12-25378578-A-C |
c.420T>G |
p.P140= |
Synonymous |
4/5 |
- |
2 |
12-25378578-A-G |
c.420T>C |
p.P140= |
Synonymous |
4/5 |
- |
2 |
12-25378578-A-T |
c.420T>A |
p.P140= |
Synonymous |
4/5 |
- |
2 |
12-25378579-G-A |
c.419C>T |
p.P140L |
Missense |
4/5 |
- |
2 |
12-25378579-G-C |
c.419C>G |
p.P140R |
Missense |
4/5 |
- |
1 |
12-25378579-G-T |
c.419C>A |
p.P140H |
Missense |
4/5 |
- |
7 |
12-25378580-G-A |
c.418C>T |
p.P140S |
Missense |
4/5 |
- |
6 |
12-25378580-G-T |
c.418C>A |
p.P140T |
Missense |
4/5 |
- |
1 |
12-25378581-A-C |
c.417T>G |
p.I139M |
Missense |
4/5 |
- |
1 |
12-25378581-A-G |
c.417T>C |
p.I139= |
Synonymous |
4/5 |
- |
1 |
12-25378581-A-T |
c.417T>A |
p.I139= |
Synonymous |
4/5 |
- |
1 |
12-25378582-A-C |
c.416T>G |
p.I139S |
Missense |
4/5 |
- |
1 |
12-25378582-A-G |
c.416T>C |
p.I139T |
Missense |
4/5 |
- |
1 |
12-25378582-A-T |
c.416T>A |
p.I139N |
Missense |
4/5 |
- |
1 |
12-25378583-T-A |
c.415A>T |
p.I139F |
Missense |
4/5 |
- |
1 |
12-25378583-T-C |
c.415A>G |
p.I139V |
Missense |
4/5 |
- |
2 |
12-25378584-T-A |
c.414A>T |
p.G138= |
Synonymous |
4/5 |
- |
2 |
12-25378584-T-C |
c.414A>G |
p.G138= |
Synonymous |
4/5 |
- |
3 |
12-25378584-T-G |
c.414A>C |
p.G138= |
Synonymous |
4/5 |
- |
2 |
12-25378585-C-A |
c.413G>T |
p.G138V |
Missense |
4/5 |
- |
5 |
12-25378585-C-G |
c.413G>C |
p.G138A |
Missense |
4/5 |
- |
2 |
12-25378585-C-T |
c.413G>A |
p.G138E |
Missense |
4/5 |
- |
9 |
12-25378586-C-A |
c.412G>T |
p.G138* |
Nonsense |
4/5 |
- |
1 |
12-25378586-C-CGG |
c.411_412insCC |
p.G138Pfs*23 |
Frameshift |
4/5 |
- |
1 |
12-25378586-C-G |
c.412G>C |
p.G138R |
Missense |
4/5 |
- |
8 |
12-25378586-C-T |
c.412G>A |
p.G138R |
Missense |
4/5 |
- |
6 |
12-25378586-C-CA |
c.411dup |
p.G138Wfs*6 |
Frameshift |
4/5 |
- |
1 |
12-25378587-A-C |
c.411T>G |
p.Y137* |
Nonsense |
4/5 |
- |
1 |
12-25378587-A-G |
c.411T>C |
p.Y137= |
Synonymous |
4/5 |
- |
3 |
12-25378587-A-T |
c.411T>A |
p.Y137* |
Nonsense |
4/5 |
- |
2 |
12-25378587-AT-CC |
c.410_411delinsGG |
p.Y137W |
Missense |
4/5 |
- |
1 |
12-25378588-AT-A |
c.410del |
p.Y137Lfs*23 |
Frameshift |
4/5 |
- |
1 |
12-25378588-T-C |
c.410A>G |
p.Y137C |
Missense |
4/5 |
- |
2 |
12-25378589-A-G |
c.409T>C |
p.Y137H |
Missense |
4/5 |
- |
1 |
12-25378590-AAC-A |
c.407_408del |
p.S136Ifs*7 |
Frameshift |
4/5 |
- |
1 |
12-25378590-A-G |
c.408T>C |
p.S136= |
Synonymous |
4/5 |
- |
1 |
12-25378591-ACTTCTTGCTAAGTCCT-A |
c.392_407del |
p.Q131Lfs*24 |
Frameshift |
4/5 |
- |
2 |
12-25378591-C-A |
c.407G>T |
p.S136I |
Missense |
4/5 |
- |
1 |
12-25378591-C-T |
c.407G>A |
p.S136N |
Missense |
4/5 |
- |
8 |
12-25378591-C-CTAA |
c.406_407insTTA |
p.R135_S136insI |
InFrameInsertion |
4/5 |
- |
1 |
12-25378592-T-C |
c.406A>G |
p.S136G |
Missense |
4/5 |
- |
3 |
12-25378592-T-G |
c.406A>C |
p.S136R |
Missense |
4/5 |
- |
1 |
12-25378593-T-C |
c.405A>G |
p.R135= |
Synonymous |
4/5 |
- |
2 |
12-25378593-TCT-ACA |
c.403_405delinsTGT |
p.R135C |
Missense |
4/5 |
- |
1 |
12-25378593-TCT-CCA |
c.403_405delinsTGG |
p.R135W |
Missense |
4/5 |
- |
1 |
12-25378595-T-G |
c.403A>C |
p.R135= |
Synonymous |
4/5 |
- |
1 |
12-25378594-C-A |
c.404G>T |
p.R135I |
Missense |
4/5 |
- |
3 |
12-25378594-C-G |
c.404G>C |
p.R135T |
Missense |
4/5 |
- |
8 |
12-25378594-C-T |
c.404G>A |
p.R135K |
Missense |
4/5 |
- |
11 |
12-25378594-CT-AG |
c.403_404inv |
p.R135L |
Missense |
4/5 |
- |
1 |
12-25378594-CT-GC |
c.403_404delinsGC |
p.R135A |
Missense |
4/5 |
- |
4 |
12-25378594-CT-TC |
c.403_404delinsGA |
p.R135E |
Missense |
4/5 |
- |
4 |
12-25378594-CT-TG |
c.403_404delinsCA |
p.R135Q |
Missense |
4/5 |
- |
1 |
12-25378595-T-A |
c.403A>T |
p.R135* |
Nonsense |
4/5 |
- |
2 |
12-25378595-T-C |
c.403A>G |
p.R135G |
Missense |
4/5 |
- |
7 |
12-25378595-T-TA |
c.402_403insT |
p.R135* |
Nonsense |
4/5 |
- |
1 |
12-25378596-T-A |
c.402A>T |
p.A134= |
Synonymous |
4/5 |
- |
1 |
12-25378596-T-C |
c.402A>G |
p.A134= |
Synonymous |
4/5 |
- |
1 |
12-25378596-T-G |
c.402A>C |
p.A134= |
Synonymous |
4/5 |
- |
1 |
12-25378597-G-A |
c.401C>T |
p.A134V |
Missense |
4/5 |
- |
7 |
12-25378597-G-C |
c.401C>G |
p.A134G |
Missense |
4/5 |
- |
2 |
12-25378598-C-A |
c.400G>T |
p.A134S |
Missense |
4/5 |
- |
3 |
12-25378598-C-G |
c.400G>C |
p.A134P |
Missense |
4/5 |
- |
1 |
12-25378598-C-T |
c.400G>A |
p.A134T |
Missense |
4/5 |
- |
8 |
12-25378599-T-A |
c.399A>T |
p.L133F |
Missense |
4/5 |
- |
2 |
12-25378599-T-C |
c.399A>G |
p.L133= |
Synonymous |
4/5 |
- |
2 |
12-25378600-AA-GT |
c.397_398delinsAC |
p.L133T |
Missense |
4/5 |
- |
1 |
12-25378600-AA-TG |
c.397_398delinsCA |
p.L133Q |
Missense |
4/5 |
- |
1 |
12-25378600-A-C |
c.398T>G |
p.L133* |
Nonsense |
4/5 |
- |
1 |
12-25378600-A-G |
c.398T>C |
p.L133S |
Missense |
4/5 |
- |
2 |
12-25378601-A-G |
c.397T>C |
p.L133= |
Synonymous |
4/5 |
- |
1 |
12-25378602-AG-A |
c.396del |
p.L133* |
Frameshift |
4/5 |
- |
1 |
12-25378602-G-A |
c.396C>T |
p.D132= |
Synonymous |
4/5 |
- |
1 |
12-25378602-G-C |
c.396C>G |
p.D132E |
Missense |
4/5 |
- |
3 |
12-25378602-G-T |
c.396C>A |
p.D132E |
Missense |
4/5 |
- |
5 |
12-25378602-G-GT |
c.395dup |
p.D132Efs*12 |
Frameshift |
4/5 |
- |
1 |
12-25378603-T-A |
c.395A>T |
p.D132V |
Missense |
4/5 |
- |
1 |
12-25378603-T-C |
c.395A>G |
p.D132G |
Missense |
4/5 |
- |
5 |
12-25378603-TC-AT |
c.394_395delinsAT |
p.D132I |
Missense |
4/5 |
- |
1 |
12-25378603-TC-CA |
c.394_395delinsTG |
p.D132C |
Missense |
4/5 |
- |
1 |
12-25378604-C-A |
c.394G>T |
p.D132Y |
Missense |
4/5 |
- |
2 |
12-25378604-C-G |
c.394G>C |
p.D132H |
Missense |
4/5 |
- |
1 |
12-25378604-C-T |
c.394G>A |
p.D132N |
Missense |
4/5 |
- |
2 |
12-25378605-C-A |
c.393G>T |
p.Q131H |
Missense |
4/5 |
- |
3 |
12-25378605-C-G |
c.393G>C |
p.Q131H |
Missense |
4/5 |
- |
3 |
12-25378605-C-T |
c.393G>A |
p.Q131= |
Synonymous |
4/5 |
- |
2 |
12-25378605-C-CT |
c.392dup |
p.D132Gfs*12 |
Frameshift |
4/5 |
- |
1 |
12-25378606-CT-C |
c.392del |
p.Q131Rfs*3 |
Frameshift |
4/5 |
- |
1 |
12-25378606-T-C |
c.392A>G |
p.Q131R |
Missense |
4/5 |
- |
3 |
12-25378606-T-G |
c.392A>C |
p.Q131P |
Missense |
4/5 |
- |
1 |
12-25378607-G-A |
c.391C>T |
p.Q131* |
Nonsense |
4/5 |
- |
2 |
12-25378607-G-C |
c.391C>G |
p.Q131E |
Missense |
4/5 |
- |
3 |
12-25378609-G-A |
c.389C>T |
p.A130V |
Missense |
4/5 |
- |
7 |
12-25378609-GC-AA |
c.388_389delinsTT |
p.A130F |
Missense |
4/5 |
- |
1 |
12-25378609-GC-AG |
c.388_389delinsCT |
p.A130L |
Missense |
4/5 |
- |
1 |
12-25378609-GC-AT |
c.388_389delinsAT |
p.A130I |
Missense |
4/5 |
- |
1 |
12-25378610-C-A |
c.388G>T |
p.A130S |
Missense |
4/5 |
- |
2 |
12-25378610-C-G |
c.388G>C |
p.A130P |
Missense |
4/5 |
- |
2 |
12-25378610-C-T |
c.388G>A |
p.A130T |
Missense |
4/5 |
- |
7 |
12-25378611-C-A |
c.387G>T |
p.Q129H |
Missense |
4/5 |
- |
1 |
12-25378611-C-T |
c.387G>A |
p.Q129= |
Synonymous |
4/5 |
- |
4 |
12-25378612-T-A |
c.386A>T |
p.Q129L |
Missense |
4/5 |
- |
1 |
12-25378612-T-C |
c.386A>G |
p.Q129R |
Missense |
4/5 |
- |
1 |
12-25378611-CTG-C |
c.385_386del |
p.Q129Gfs*14 |
Frameshift |
4/5 |
- |
1 |
12-25378613-G-A |
c.385C>T |
p.Q129* |
Nonsense |
4/5 |
- |
1 |
12-25378613-G-T |
c.385C>A |
p.Q129K |
Missense |
4/5 |
- |
1 |
12-25378614-T-C |
c.384A>G |
p.K128= |
Synonymous |
4/5 |
- |
2 |
12-25378615-T-C |
c.383A>G |
p.K128R |
Missense |
4/5 |
- |
5 |
12-25378615-T-G |
c.383A>C |
p.K128T |
Missense |
4/5 |
- |
1 |
12-25378616-T-C |
c.382A>G |
p.K128E |
Missense |
4/5 |
- |
4 |
12-25378613-G-GT |
c.384dup |
p.Q129Tfs*15 |
Frameshift |
4/5 |
- |
2 |
12-25378617-T-C |
c.381A>G |
p.T127= |
Synonymous |
4/5 |
- |
1 |
12-25378618-G-A |
c.380C>T |
p.T127I |
Missense |
4/5 |
- |
4 |
12-25378618-G-C |
c.380C>G |
p.T127R |
Missense |
4/5 |
- |
4 |
12-25378618-G-T |
c.380C>A |
p.T127K |
Missense |
4/5 |
- |
1 |
12-25378619-T-A |
c.379A>T |
p.T127S |
Missense |
4/5 |
- |
1 |
12-25378619-T-C |
c.379A>G |
p.T127A |
Missense |
4/5 |
- |
1 |
12-25378616-TTG-T |
c.380_381del |
p.T127Kfs*16 |
Frameshift |
4/5 |
- |
1 |
12-25378620-G-A |
c.378C>T |
p.D126= |
Synonymous |
4/5 |
- |
1 |
12-25378620-G-C |
c.378C>G |
p.D126E |
Missense |
4/5 |
- |
4 |
12-25378620-G-T |
c.378C>A |
p.D126E |
Missense |
4/5 |
- |
4 |
12-25378621-T-A |
c.377A>T |
p.D126V |
Missense |
4/5 |
- |
1 |
12-25378621-T-C |
c.377A>G |
p.D126G |
Missense |
4/5 |
- |
1 |
12-25378622-C-A |
c.376G>T |
p.D126Y |
Missense |
4/5 |
- |
2 |
12-25378622-C-G |
c.376G>C |
p.D126H |
Missense |
4/5 |
- |
4 |
12-25378622-C-T |
c.376G>A |
p.D126N |
Missense |
4/5 |
- |
4 |
12-25378623-TAC-CAT |
c.373_375delinsATG |
p.V125M |
Missense |
4/5 |
- |
1 |
12-25378623-T-C |
c.375A>G |
p.V125= |
Synonymous |
4/5 |
- |
1 |
12-25378624-A-C |
c.374T>G |
p.V125G |
Missense |
4/5 |
- |
1 |
12-25378624-A-G |
c.374T>C |
p.V125A |
Missense |
4/5 |
- |
2 |
12-25378625-AC-A |
c.373del |
p.V125* |
Frameshift |
4/5 |
- |
1 |
12-25378625-C-A |
c.373G>T |
p.V125L |
Missense |
4/5 |
- |
1 |
12-25378625-C-G |
c.373G>C |
p.V125L |
Missense |
4/5 |
- |
1 |
12-25378625-C-T |
c.373G>A |
p.V125I |
Missense |
4/5 |
- |
3 |
12-25378624-ACTGTTCTAGAAGG-A |
c.361_373del |
p.P121* |
Frameshift |
4/5 |
- |
1 |
12-25378627-G-A |
c.371C>T |
p.T124I |
Missense |
4/5 |
- |
2 |
12-25378627-G-C |
c.371C>G |
p.T124R |
Missense |
4/5 |
- |
1 |
12-25378627-G-T |
c.371C>A |
p.T124K |
Missense |
4/5 |
- |
1 |
12-25378628-T-A |
c.370A>T |
p.T124S |
Missense |
4/5 |
- |
2 |
12-25378628-T-C |
c.370A>G |
p.T124A |
Missense |
4/5 |
- |
3 |
12-25378628-T-G |
c.370A>C |
p.T124P |
Missense |
4/5 |
- |
1 |
12-25378629-T-A |
c.369A>T |
p.R123S |
Missense |
4/5 |
- |
1 |
12-25378629-T-C |
c.369A>G |
p.R123= |
Synonymous |
4/5 |
- |
1 |
12-25378629-TCT-ACA |
c.367_369delinsTGT |
p.R123C |
Missense |
4/5 |
- |
1 |
12-25378629-TCT-ATG |
c.367_369delinsCAT |
p.R123H |
Missense |
4/5 |
- |
4 |
12-25378629-TCT-CCA |
c.367_369delinsTGG |
p.R123W |
Missense |
4/5 |
- |
4 |
12-25378629-T-G |
c.369A>C |
p.R123S |
Missense |
4/5 |
- |
1 |
12-25378631-T-G |
c.367A>C |
p.R123= |
Synonymous |
4/5 |
- |
1 |
12-25378630-C-A |
c.368G>T |
p.R123I |
Missense |
4/5 |
- |
6 |
12-25378630-C-T |
c.368G>A |
p.R123K |
Missense |
4/5 |
- |
4 |
12-25378631-T-C |
c.367A>G |
p.R123G |
Missense |
4/5 |
- |
1 |
12-25378632-A-C |
c.366T>G |
p.S122= |
Synonymous |
4/5 |
- |
3 |
12-25378632-A-G |
c.366T>C |
p.S122= |
Synonymous |
4/5 |
- |
1 |
12-25378632-A-T |
c.366T>A |
p.S122= |
Synonymous |
4/5 |
- |
2 |
12-25378632-TA-T |
c.366del |
p.R123Efs*3 |
Frameshift |
4/5 |
- |
1 |
12-25378633-AG-A |
c.365del |
p.S122Lfs*4 |
Frameshift |
4/5 |
- |
1 |
12-25378633-G-A |
c.365C>T |
p.S122F |
Missense |
4/5 |
- |
3 |
12-25378633-GA-AG |
c.364_365delinsCT |
p.S122L |
Missense |
4/5 |
- |
1 |
12-25378633-GA-AT |
c.364_365delinsAT |
p.S122I |
Missense |
4/5 |
- |
1 |
12-25378633-GA-CC |
c.364_365delinsGG |
p.S122G |
Missense |
4/5 |
- |
1 |
12-25378633-GA-TT |
c.364_365delinsAA |
p.S122N |
Missense |
4/5 |
- |
2 |
12-25378633-G-C |
c.365C>G |
p.S122C |
Missense |
4/5 |
- |
1 |
12-25378633-G-T |
c.365C>A |
p.S122Y |
Missense |
4/5 |
- |
1 |
12-25378634-A-C |
c.364T>G |
p.S122A |
Missense |
4/5 |
- |
2 |
12-25378634-A-G |
c.364T>C |
p.S122P |
Missense |
4/5 |
- |
1 |
12-25378634-A-T |
c.364T>A |
p.S122T |
Missense |
4/5 |
- |
1 |
12-25378635-A-C |
c.363T>G |
p.P121= |
Synonymous |
4/5 |
- |
1 |
12-25378635-A-G |
c.363T>C |
p.P121= |
Synonymous |
4/5 |
- |
2 |
12-25378635-AG-T |
c.362_363delinsA |
p.P121Hfs*5 |
Frameshift |
4/5 |
- |
1 |
12-25378635-A-T |
c.363T>A |
p.P121= |
Synonymous |
4/5 |
- |
1 |
12-25378636-G-A |
c.362C>T |
p.P121L |
Missense |
4/5 |
- |
1 |
12-25378636-G-T |
c.362C>A |
p.P121H |
Missense |
4/5 |
- |
18 |
12-25378635-AG-A |
c.362del |
p.P121Lfs*5 |
Frameshift |
4/5 |
- |
1 |
12-25378637-G-A |
c.361C>T |
p.P121S |
Missense |
4/5 |
- |
4 |
12-25378637-G-C |
c.361C>G |
p.P121A |
Missense |
4/5 |
- |
1 |
12-25378637-G-GC |
c.360dup |
p.P121Afs*3 |
Frameshift |
4/5 |
- |
1 |
12-25378638-C-A |
c.360G>T |
p.L120F |
Missense |
4/5 |
- |
2 |
12-25378638-CA-AC |
c.359_360delinsGT |
p.L120C |
Missense |
4/5 |
- |
4 |
12-25378638-C-T |
c.360G>A |
p.L120= |
Synonymous |
4/5 |
- |
4 |
12-25378639-A-C |
c.359T>G |
p.L120W |
Missense |
4/5 |
- |
1 |
12-25378639-A-G |
c.359T>C |
p.L120S |
Missense |
4/5 |
- |
2 |
12-25378639-A-T |
c.359T>A |
p.L120* |
Nonsense |
4/5 |
- |
2 |
12-25378640-A-G |
c.358T>C |
p.L120= |
Synonymous |
4/5 |
- |
1 |
12-25378640-A-T |
c.358T>A |
p.L120M |
Missense |
4/5 |
- |
2 |
12-25378641-A-C |
c.357T>G |
p.D119E |
Missense |
4/5 |
- |
1 |
12-25378641-A-G |
c.357T>C |
p.D119= |
Synonymous |
4/5 |
- |
2 |
12-25378641-A-T |
c.357T>A |
p.D119E |
Missense |
4/5 |
- |
1 |
12-25378642-T-C |
c.356A>G |
p.D119G |
Missense |
4/5 |
- |
5 |
12-25378642-T-G |
c.356A>C |
p.D119A |
Missense |
4/5 |
- |
3 |
12-25378643-C-A |
c.355G>T |
p.D119Y |
Missense |
4/5 |
- |
5 |
12-25378643-C-G |
c.355G>C |
p.D119H |
Missense |
4/5 |
- |
6 |
12-25378643-C-T |
c.355G>A |
p.D119N |
Missense |
4/5 |
- |
29 |
12-25378644-A-G |
c.354T>C |
p.C118= |
Synonymous |
4/5 |
- |
3 |
12-25378644-A-T |
c.354T>A |
p.C118* |
Nonsense |
4/5 |
- |
2 |
12-25378645-AC-A |
c.353del |
p.C118Lfs*8 |
Frameshift |
4/5 |
- |
1 |
12-25378645-C-A |
c.353G>T |
p.C118F |
Missense |
4/5 |
- |
1 |
12-25378645-CA-GC |
c.352_353delinsGC |
p.C118A |
Missense |
4/5 |
- |
2 |
12-25378645-CA-GT |
c.352_353delinsAC |
p.C118T |
Missense |
4/5 |
- |
14 |
12-25378645-CA-TC |
c.352_353delinsGA |
p.C118D |
Missense |
4/5 |
- |
2 |
12-25378645-C-T |
c.353G>A |
p.C118Y |
Missense |
4/5 |
- |
8 |
12-25378645-C-G |
c.353G>C |
p.C118S |
Missense |
4/5 |
- |
51 |
12-25378646-A-G |
c.352T>C |
p.C118R |
Missense |
4/5 |
- |
1 |
12-25378646-A-T |
c.352T>A |
p.C118S |
Missense |
4/5 |
- |
50 |
12-25378647-T-A |
c.351A>T |
p.K117N |
Missense |
4/5 |
- |
246 |
12-25378647-T-C |
c.351A>G |
p.K117= |
Synonymous |
4/5 |
- |
2 |
12-25378647-T-G |
c.351A>C |
p.K117N |
Missense |
4/5 |
- |
250 |
12-25378647-TT-CA |
c.350_351delinsTG |
p.K117M |
Missense |
4/5 |
- |
1 |
12-25378647-TTT-ACA |
c.349_351delinsTGT |
p.K117C |
Missense |
4/5 |
- |
1 |
12-25378647-TTT-GTC |
c.349_351delinsGAC |
p.K117D |
Missense |
4/5 |
- |
4 |
12-25378648-T-A |
c.350A>T |
p.K117I |
Missense |
4/5 |
- |
1 |
12-25378648-T-C |
c.350A>G |
p.K117R |
Missense |
4/5 |
- |
41 |
12-25378648-T-G |
c.350A>C |
p.K117T |
Missense |
4/5 |
- |
2 |
12-25378648-TT-GC |
c.349_350delinsGC |
p.K117A |
Missense |
4/5 |
- |
2 |
12-25378649-T-A |
c.349A>T |
p.K117* |
Nonsense |
4/5 |
- |
4 |
12-25378649-T-C |
c.349A>G |
p.K117E |
Missense |
4/5 |
- |
17 |
12-25378649-T-G |
c.349A>C |
p.K117Q |
Missense |
4/5 |
- |
2 |
12-25378650-A-C |
c.348T>G |
p.N116K |
Missense |
4/5 |
- |
1 |
12-25378650-A-T |
c.348T>A |
p.N116K |
Missense |
4/5 |
- |
1 |
12-25378651-T-C |
c.347A>G |
p.N116S |
Missense |
4/5 |
- |
7 |
12-25378651-T-G |
c.347A>C |
p.N116T |
Missense |
4/5 |
- |
1 |
12-25378651-TT-GC |
c.346_347delinsGC |
p.N116A |
Missense |
4/5 |
- |
1 |
12-25378652-T-A |
c.346A>T |
p.N116Y |
Missense |
4/5 |
- |
1 |
12-25378652-T-C |
c.346A>G |
p.N116D |
Missense |
4/5 |
- |
1 |
12-25378652-T-G |
c.346A>C |
p.N116H |
Missense |
4/5 |
- |
17 |
12-25378650-A-AT |
c.347dup |
p.N116Kfs*2 |
Frameshift |
4/5 |
- |
1 |
12-25378653-T-A |
c.345A>T |
p.G115= |
Synonymous |
4/5 |
- |
1 |
12-25378653-T-C |
c.345A>G |
p.G115= |
Synonymous |
4/5 |
- |
2 |
12-25378653-T-G |
c.345A>C |
p.G115= |
Synonymous |
4/5 |
- |
1 |
12-25378654-C-A |
c.344G>T |
p.G115V |
Missense |
4/5 |
- |
4 |
12-25378654-C-T |
c.344G>A |
p.G115E |
Missense |
4/5 |
- |
10 |
12-25378653-TC-T |
c.344del |
p.G115Efs*11 |
Frameshift |
4/5 |
- |
1 |
12-25378655-C-A |
c.343G>T |
p.G115* |
Nonsense |
4/5 |
- |
3 |
12-25378655-C-G |
c.343G>C |
p.G115R |
Missense |
4/5 |
- |
3 |
12-25378655-C-T |
c.343G>A |
p.G115R |
Missense |
4/5 |
- |
3 |
12-25378656-T-A |
c.342A>T |
p.V114= |
Synonymous |
4/5 |
- |
1 |
12-25378656-T-C |
c.342A>G |
p.V114= |
Synonymous |
4/5 |
- |
1 |
12-25378656-T-G |
c.342A>C |
p.V114= |
Synonymous |
4/5 |
- |
1 |
12-25378657-A-G |
c.341T>C |
p.V114A |
Missense |
4/5 |
- |
3 |
12-25378658-C-A |
c.340G>T |
p.V114L |
Missense |
4/5 |
- |
2 |
12-25378658-C-G |
c.340G>C |
p.V114L |
Missense |
4/5 |
- |
2 |
12-25378658-C-T |
c.340G>A |
p.V114I |
Missense |
4/5 |
- |
7 |
12-25378658-C-CT |
c.339dup |
p.V114Sfs*4 |
Frameshift |
4/5 |
- |
1 |
12-25378659-CT-C |
c.339del |
p.V114* |
Frameshift |
4/5 |
- |
1 |
12-25378659-T-A |
c.339A>T |
p.L113= |
Synonymous |
4/5 |
- |
1 |
12-25378659-TAG-GTC |
c.337_339delinsGAC |
p.L113D |
Missense |
4/5 |
- |
1 |
12-25378659-T-C |
c.339A>G |
p.L113= |
Synonymous |
4/5 |
- |
1 |
12-25378659-T-G |
c.339A>C |
p.L113= |
Synonymous |
4/5 |
- |
1 |
12-25378661-G-A |
c.337C>T |
p.L113= |
Synonymous |
4/5 |
- |
1 |
12-25378660-A-G |
c.338T>C |
p.L113P |
Missense |
4/5 |
- |
1 |
12-25378660-TA-T |
c.338del |
p.L113Qfs*2 |
Frameshift |
4/5 |
- |
1 |
12-25378660-AG-A |
c.337del |
p.L113* |
Frameshift |
4/5 |
- |
1 |
12-25378662-G-A |
c.336C>T |
p.V112= |
Synonymous |
4/5 |
- |
3 |
12-25378662-G-C |
c.336C>G |
p.V112= |
Synonymous |
4/5 |
- |
2 |
12-25378662-G-T |
c.336C>A |
p.V112= |
Synonymous |
4/5 |
- |
2 |
12-25378663-A-G |
c.335T>C |
p.V112A |
Missense |
4/5 |
- |
2 |
12-25378664-C-A |
c.334G>T |
p.V112F |
Missense |
4/5 |
- |
4 |
12-25378664-C-G |
c.334G>C |
p.V112L |
Missense |
4/5 |
- |
1 |
12-25378664-C-T |
c.334G>A |
p.V112I |
Missense |
4/5 |
- |
3 |
12-25378665-C-A |
c.333G>T |
p.M111I |
Missense |
4/5 |
- |
4 |
12-25378665-C-G |
c.333G>C |
p.M111I |
Missense |
4/5 |
- |
2 |
12-25378665-C-T |
c.333G>A |
p.M111I |
Missense |
4/5 |
- |
2 |
12-25378666-A-C |
c.332T>G |
p.M111R |
Missense |
4/5 |
- |
1 |
12-25378666-A-G |
c.332T>C |
p.M111T |
Missense |
4/5 |
- |
4 |
12-25378667-T-A |
c.331A>T |
p.M111L |
Missense |
4/5 |
- |
1 |
12-25378667-T-C |
c.331A>G |
p.M111V |
Missense |
4/5 |
- |
2 |
12-25378667-T-G |
c.331A>C |
p.M111L |
Missense |
4/5 |
- |
1 |
12-25378667-T-TA |
c.330dup |
p.M111Yfs*7 |
Frameshift |
4/5 |
- |
1 |
12-25378668-A-C |
c.330T>G |
p.P110= |
Synonymous |
4/5 |
- |
2 |
12-25378668-A-G |
c.330T>C |
p.P110= |
Synonymous |
4/5 |
- |
2 |
12-25378668-AGG-TTA |
c.328_330delinsTAA |
p.P110* |
Nonsense |
4/5 |
- |
6 |
12-25378668-A-T |
c.330T>A |
p.P110= |
Synonymous |
4/5 |
- |
2 |
12-25378668-TAGG-T |
c.328_330del |
p.P110del |
InFrameDeletion |
4/5 |
- |
1 |
12-25378669-G-A |
c.329C>T |
p.P110L |
Missense |
4/5 |
- |
2 |
12-25378669-G-C |
c.329C>G |
p.P110R |
Missense |
4/5 |
- |
1 |
12-25378669-GG-CA |
c.328_329delinsTG |
p.P110C |
Missense |
4/5 |
- |
3 |
12-25378669-GG-CC |
c.328_329inv |
p.P110G |
Missense |
4/5 |
- |
8 |
12-25378669-GG-TA |
c.328_329delinsTA |
p.P110Y |
Missense |
4/5 |
- |
1 |
12-25378669-GG-TC |
c.328_329delinsGA |
p.P110D |
Missense |
4/5 |
- |
14 |
12-25378669-G-T |
c.329C>A |
p.P110H |
Missense |
4/5 |
- |
5 |
12-25378670-G-A |
c.328C>T |
p.P110S |
Missense |
4/5 |
- |
15 |
12-25378670-G-C |
c.328C>G |
p.P110A |
Missense |
4/5 |
- |
63 |
12-25378670-G-T |
c.328C>A |
p.P110T |
Missense |
4/5 |
- |
1 |
12-25378671-T-A |
c.327A>T |
p.V109= |
Synonymous |
4/5 |
- |
4 |
12-25378671-TAC-ACA |
c.325_327delinsTGT |
p.V109C |
Missense |
4/5 |
- |
10 |
12-25378671-TA-GT |
c.326_327delinsAC |
p.V109D |
Missense |
4/5 |
- |
1 |
12-25378671-T-C |
c.327A>G |
p.V109= |
Synonymous |
4/5 |
- |
6 |
12-25378671-T-G |
c.327A>C |
p.V109= |
Synonymous |
4/5 |
- |
3 |
12-25378672-A-C |
c.326T>G |
p.V109G |
Missense |
4/5 |
- |
2 |
12-25378672-A-G |
c.326T>C |
p.V109A |
Missense |
4/5 |
- |
4 |
12-25378672-A-T |
c.326T>A |
p.V109E |
Missense |
4/5 |
- |
2 |
12-25378673-C-A |
c.325G>T |
p.V109L |
Missense |
4/5 |
- |
1 |
12-25378673-C-T |
c.325G>A |
p.V109I |
Missense |
4/5 |
- |
4 |
12-25378674-A-G |
c.324T>C |
p.D108= |
Synonymous |
4/5 |
- |
2 |
12-25378675-T-A |
c.323A>T |
p.D108V |
Missense |
4/5 |
- |
2 |
12-25378675-T-C |
c.323A>G |
p.D108G |
Missense |
4/5 |
- |
2 |
12-25378675-T-G |
c.323A>C |
p.D108A |
Missense |
4/5 |
- |
1 |
12-25378676-C-A |
c.322G>T |
p.D108Y |
Missense |
4/5 |
- |
7 |
12-25378676-C-G |
c.322G>C |
p.D108H |
Missense |
4/5 |
- |
1 |
12-25378676-C-T |
c.322G>A |
p.D108N |
Missense |
4/5 |
- |
5 |
12-25378677-T-A |
c.321A>T |
p.E107D |
Missense |
4/5 |
- |
4 |
12-25378677-T-C |
c.321A>G |
p.E107= |
Synonymous |
4/5 |
- |
1 |
12-25378677-T-G |
c.321A>C |
p.E107D |
Missense |
4/5 |
- |
3 |
12-25378678-T-C |
c.320A>G |
p.E107G |
Missense |
4/5 |
- |
3 |
12-25378678-T-G |
c.320A>C |
p.E107A |
Missense |
4/5 |
- |
1 |
12-25378679-C-A |
c.319G>T |
p.E107* |
Nonsense |
4/5 |
- |
1 |
12-25378679-C-T |
c.319G>A |
p.E107K |
Missense |
4/5 |
- |
10 |
12-25378680-A-C |
c.318T>G |
p.S106= |
Synonymous |
4/5 |
- |
1 |
12-25378680-A-G |
c.318T>C |
p.S106= |
Synonymous |
4/5 |
- |
2 |
12-25378680-A-T |
c.318T>A |
p.S106= |
Synonymous |
4/5 |
- |
1 |
12-25378681-G-A |
c.317C>T |
p.S106F |
Missense |
4/5 |
- |
2 |
12-25378681-GA-AG |
c.316_317delinsCT |
p.S106L |
Missense |
4/5 |
- |
1 |
12-25378681-GA-TT |
c.316_317delinsAA |
p.S106N |
Missense |
4/5 |
- |
1 |
12-25378681-G-C |
c.317C>G |
p.S106C |
Missense |
4/5 |
- |
2 |
12-25378681-G-GA |
c.316dup |
p.S106Ffs*2 |
Frameshift |
4/5 |
- |
1 |
12-25378682-A-G |
c.316T>C |
p.S106P |
Missense |
4/5 |
- |
2 |
12-25378683-G-A |
c.315C>T |
p.D105= |
Synonymous |
4/5 |
- |
1 |
12-25378683-G-C |
c.315C>G |
p.D105E |
Missense |
4/5 |
- |
1 |
12-25378683-G-T |
c.315C>A |
p.D105E |
Missense |
4/5 |
- |
1 |
12-25378684-T-A |
c.314A>T |
p.D105V |
Missense |
4/5 |
- |
1 |
12-25378684-T-C |
c.314A>G |
p.D105G |
Missense |
4/5 |
- |
2 |
12-25378685-C-A |
c.313G>T |
p.D105Y |
Missense |
4/5 |
- |
2 |
12-25378685-C-T |
c.313G>A |
p.D105N |
Missense |
4/5 |
- |
2 |
12-25378686-C-A |
c.312G>T |
p.K104N |
Missense |
4/5 |
- |
3 |
12-25378686-CCTT-C |
c.310_312del |
p.K104del |
InFrameDeletion |
4/5 |
- |
1 |
12-25378686-C-G |
c.312G>C |
p.K104N |
Missense |
4/5 |
- |
1 |
12-25378686-C-T |
c.312G>A |
p.K104= |
Synonymous |
4/5 |
- |
1 |
12-25378686-CTT-ACA |
c.310_312delinsTGT |
p.K104C |
Missense |
4/5 |
- |
2 |
12-25378687-T-A |
c.311A>T |
p.K104M |
Missense |
4/5 |
- |
2 |
12-25378687-T-C |
c.311A>G |
p.K104R |
Missense |
4/5 |
- |
3 |
12-25378687-TT-GC |
c.310_311delinsGC |
p.K104A |
Missense |
4/5 |
- |
3 |
12-25378686-CT-C |
c.311del |
p.K104Rfs*10 |
Frameshift |
4/5 |
- |
2 |
12-25378688-T-A |
c.310A>T |
p.K104* |
Nonsense |
4/5 |
- |
2 |
12-25378688-T-C |
c.310A>G |
p.K104E |
Missense |
4/5 |
- |
2 |
12-25378688-T-G |
c.310A>C |
p.K104Q |
Missense |
4/5 |
- |
18 |
12-25378689-AAC-CAT |
c.307_309delinsATG |
p.V103M |
Missense |
4/5 |
- |
1 |
12-25378689-A-C |
c.309T>G |
p.V103= |
Synonymous |
4/5 |
- |
3 |
12-25378689-A-G |
c.309T>C |
p.V103= |
Synonymous |
4/5 |
- |
1 |
12-25378689-A-T |
c.309T>A |
p.V103= |
Synonymous |
4/5 |
- |
2 |
12-25378689-TAAC-T |
c.307_309del |
p.V103del |
InFrameDeletion |
4/5 |
- |
1 |
12-25378690-AC-CA |
c.307_308delinsTG |
p.V103C |
Missense |
4/5 |
- |
1 |
12-25378690-A-G |
c.308T>C |
p.V103A |
Missense |
4/5 |
- |
2 |
12-25378691-C-A |
c.307G>T |
p.V103F |
Missense |
4/5 |
- |
2 |
12-25378691-C-T |
c.307G>A |
p.V103I |
Missense |
4/5 |
- |
2 |
12-25378692-T-A |
c.306A>T |
p.R102S |
Missense |
4/5 |
- |
2 |
12-25378692-T-C |
c.306A>G |
p.R102= |
Synonymous |
4/5 |
- |
3 |
12-25378692-TCT-ACA |
c.304_306delinsTGT |
p.R102C |
Missense |
4/5 |
- |
2 |
12-25378692-TCT-CCA |
c.304_306delinsTGG |
p.R102W |
Missense |
4/5 |
- |
1 |
12-25378692-T-G |
c.306A>C |
p.R102S |
Missense |
4/5 |
- |
1 |
12-25378694-T-G |
c.304A>C |
p.R102= |
Synonymous |
4/5 |
- |
3 |
12-25378693-C-A |
c.305G>T |
p.R102I |
Missense |
4/5 |
- |
1 |
12-25378693-C-G |
c.305G>C |
p.R102T |
Missense |
4/5 |
- |
1 |
12-25378693-C-T |
c.305G>A |
p.R102K |
Missense |
4/5 |
- |
3 |
12-25378693-CT-AG |
c.304_305inv |
p.R102L |
Missense |
4/5 |
- |
1 |
12-25378693-CT-GC |
c.304_305delinsGC |
p.R102A |
Missense |
4/5 |
- |
1 |
12-25378693-CT-TC |
c.304_305delinsGA |
p.R102E |
Missense |
4/5 |
- |
1 |
12-25378693-CT-TG |
c.304_305delinsCA |
p.R102Q |
Missense |
4/5 |
- |
2 |
12-25378694-T-A |
c.304A>T |
p.R102* |
Nonsense |
4/5 |
- |
1 |
12-25378694-T-C |
c.304A>G |
p.R102G |
Missense |
4/5 |
- |
2 |
12-25378695-T-C |
c.303A>G |
p.K101= |
Synonymous |
4/5 |
- |
1 |
12-25378695-TT-CA |
c.302_303delinsTG |
p.K101M |
Missense |
4/5 |
- |
1 |
12-25378695-TTT-ACA |
c.301_303delinsTGT |
p.K101C |
Missense |
4/5 |
- |
5 |
12-25378695-TTT-GTC |
c.301_303delinsGAC |
p.K101D |
Missense |
4/5 |
- |
1 |
12-25378696-T-C |
c.302A>G |
p.K101R |
Missense |
4/5 |
- |
1 |
12-25378696-TT-GC |
c.301_302delinsGC |
p.K101A |
Missense |
4/5 |
- |
1 |
12-25378697-T-C |
c.301A>G |
p.K101E |
Missense |
4/5 |
- |
5 |
12-25378697-T-G |
c.301A>C |
p.K101Q |
Missense |
4/5 |
- |
1 |
12-25378696-TTAA-T |
c.299_301del |
p.I100del |
InFrameDeletion |
4/5 |
- |
1 |
12-25378698-A-C |
c.300T>G |
p.I100M |
Missense |
4/5 |
- |
1 |
12-25378699-A-C |
c.299T>G |
p.I100S |
Missense |
4/5 |
- |
1 |
12-25378699-A-G |
c.299T>C |
p.I100T |
Missense |
4/5 |
- |
1 |
12-25378699-A-T |
c.299T>A |
p.I100N |
Missense |
4/5 |
- |
2 |
12-25378700-T-A |
c.298A>T |
p.I100F |
Missense |
4/5 |
- |
1 |
12-25378700-T-C |
c.298A>G |
p.I100V |
Missense |
4/5 |
- |
2 |
12-25378701-T-A |
c.297A>T |
p.Q99H |
Missense |
4/5 |
- |
2 |
12-25378701-T-C |
c.297A>G |
p.Q99= |
Synonymous |
4/5 |
- |
1 |
12-25378701-T-G |
c.297A>C |
p.Q99H |
Missense |
4/5 |
- |
2 |
12-25378701-TTG-AAA |
c.295_297delinsTTT |
p.Q99F |
Missense |
4/5 |
- |
2 |
12-25378701-TTG-CCA |
c.295_297delinsTGG |
p.Q99W |
Missense |
4/5 |
- |
1 |
12-25378699-AT-A |
c.298del |
p.I100Lfs*14 |
Frameshift |
4/5 |
- |
1 |
12-25378702-T-A |
c.296A>T |
p.Q99L |
Missense |
4/5 |
- |
18 |
12-25378702-T-C |
c.296A>G |
p.Q99R |
Missense |
4/5 |
- |
3 |
12-25378702-TG-GC |
c.295_296delinsGC |
p.Q99A |
Missense |
4/5 |
- |
2 |
12-25378703-G-A |
c.295C>T |
p.Q99* |
Nonsense |
4/5 |
- |
8 |
12-25378703-G-C |
c.295C>G |
p.Q99E |
Missense |
4/5 |
- |
1 |
12-25378703-G-T |
c.295C>A |
p.Q99K |
Missense |
4/5 |
- |
2 |
12-25378704-T-A |
c.294A>T |
p.E98D |
Missense |
4/5 |
- |
1 |
12-25378704-T-C |
c.294A>G |
p.E98= |
Synonymous |
4/5 |
- |
1 |
12-25378703-GT-G |
c.294del |
p.E98Dfs*16 |
Frameshift |
4/5 |
- |
1 |
12-25378705-T-C |
c.293A>G |
p.E98G |
Missense |
4/5 |
- |
1 |
12-25378706-C-A |
c.292G>T |
p.E98* |
Nonsense |
4/5 |
- |
10 |
12-25378706-C-G |
c.292G>C |
p.E98Q |
Missense |
4/5 |
- |
1 |
12-25378706-C-T |
c.292G>A |
p.E98K |
Missense |
4/5 |
- |
4 |
12-25378707-T-A |
c.291A>T |
p.R97S |
Missense |
4/5 |
- |
1 |
12-25378707-T-C |
c.291A>G |
p.R97= |
Synonymous |
4/5 |
- |
2 |
12-25378707-T-G |
c.291A>C |
p.R97S |
Missense |
4/5 |
- |
1 |
12-25380169-T-G |
c.289A>C |
p.R97= |
Synonymous |
3/5 |
- |
2 |
12-25378869-T-G |
c.291-162A>C |
- |
IntronicSNV |
- |
3/4 |
1 |
12-25379033-T-G |
c.291-326A>C |
- |
IntronicSNV |
- |
3/4 |
1 |
12-25379362-G-A |
c.291-655C>T |
- |
IntronicSNV |
- |
3/4 |
1 |
12-25379368-G-A |
c.291-661C>T |
- |
IntronicSNV |
- |
3/4 |
3 |
12-25379637-T-C |
c.290+531A>G |
- |
IntronicSNV |
- |
3/4 |
1 |
12-25379639-T-C |
c.290+529A>G |
- |
IntronicSNV |
- |
3/4 |
1 |
12-25379793-C-T |
c.290+375G>A |
- |
IntronicSNV |
- |
3/4 |
3 |
12-25380071-T-A |
c.290+97A>T |
- |
IntronicSNV |
- |
3/4 |
5 |
12-25380071-T-G |
c.290+97A>C |
- |
IntronicSNV |
- |
3/4 |
10 |
12-25380094-A-C |
c.290+74T>G |
- |
IntronicSNV |
- |
3/4 |
2 |
12-25380094-A-T |
c.290+74T>A |
- |
IntronicSNV |
- |
3/4 |
1 |
12-25380097-A-G |
c.290+71T>C |
- |
IntronicSNV |
- |
3/4 |
1 |
12-25380164-C-A |
c.290+4G>T |
- |
IntronicSNV |
- |
3/4 |
1 |
12-25380165-C-A |
c.290+3G>T |
- |
IntronicSNV |
- |
3/4 |
1 |
12-25380165-C-T |
c.290+3G>A |
- |
IntronicSNV |
- |
3/4 |
1 |
12-25380166-A-G |
c.290+2T>C |
- |
IntronicSNV |
- |
3/4 |
1 |
12-25380167-C-A |
c.290+1G>T |
- |
IntronicSNV |
- |
3/4 |
1 |
12-25380168-C-A |
c.290G>T |
p.R97I |
Missense |
3/5 |
- |
8 |
12-25380168-C-T |
c.290G>A |
p.R97K |
Missense |
3/5 |
- |
6 |
12-25380168-CT-AG |
c.289_290inv |
p.R97L |
Missense |
3/5 |
- |
1 |
12-25380168-CT-TG |
c.289_290delinsCA |
p.R97Q |
Missense |
3/5 |
- |
1 |
12-25380169-T-A |
c.289A>T |
p.R97* |
Nonsense |
3/5 |
- |
2 |
12-25380169-T-C |
c.289A>G |
p.R97G |
Missense |
3/5 |
- |
1 |
12-25380169-T-TA |
c.288dup |
p.R97* |
Nonsense |
3/5 |
- |
1 |
12-25380170-A-C |
c.288T>G |
p.Y96* |
Nonsense |
3/5 |
- |
2 |
12-25380170-A-G |
c.288T>C |
p.Y96= |
Synonymous |
3/5 |
- |
1 |
12-25380170-A-T |
c.288T>A |
p.Y96* |
Nonsense |
3/5 |
- |
2 |
12-25380171-TA-GC |
c.286_287delinsGC |
p.Y96A |
Missense |
3/5 |
- |
1 |
12-25380171-T-C |
c.287A>G |
p.Y96C |
Missense |
3/5 |
- |
42 |
12-25380171-T-G |
c.287A>C |
p.Y96S |
Missense |
3/5 |
- |
12 |
12-25380172-A-C |
c.286T>G |
p.Y96D |
Missense |
3/5 |
- |
46 |
12-25380172-A-G |
c.286T>C |
p.Y96H |
Missense |
3/5 |
- |
4 |
12-25380172-A-T |
c.286T>A |
p.Y96N |
Missense |
3/5 |
- |
2 |
12-25380173-A-AC |
c.284_285insG |
p.H95Qfs*3 |
Frameshift |
3/5 |
- |
1 |
12-25380173-A-C |
c.285T>G |
p.H95Q |
Missense |
3/5 |
- |
16 |
12-25380173-A-T |
c.285T>A |
p.H95Q |
Missense |
3/5 |
- |
16 |
12-25380173-ATG-CTT |
c.283_285delinsAAG |
p.H95K |
Missense |
3/5 |
- |
1 |
12-25380173-ATG-TTA |
c.283_285delinsTAA |
p.H95* |
Nonsense |
3/5 |
- |
1 |
12-25380174-T-A |
c.284A>T |
p.H95L |
Missense |
3/5 |
- |
6 |
12-25380174-T-C |
c.284A>G |
p.H95R |
Missense |
3/5 |
- |
24 |
12-25380174-T-G |
c.284A>C |
p.H95P |
Missense |
3/5 |
- |
1 |
12-25380174-TG-AC |
c.283_284delinsGT |
p.H95V |
Missense |
3/5 |
- |
1 |
12-25380174-TG-GC |
c.283_284delinsGC |
p.H95A |
Missense |
3/5 |
- |
1 |
12-25380175-G-A |
c.283C>T |
p.H95Y |
Missense |
3/5 |
- |
2 |
12-25380175-G-C |
c.283C>G |
p.H95D |
Missense |
3/5 |
- |
36 |
12-25380175-G-T |
c.283C>A |
p.H95N |
Missense |
3/5 |
- |
6 |
12-25380174-TG-T |
c.283del |
p.H95Ifs*19 |
Frameshift |
3/5 |
- |
1 |
12-25380176-G-C |
c.282C>G |
p.H94Q |
Missense |
3/5 |
- |
1 |
12-25380176-G-T |
c.282C>A |
p.H94Q |
Missense |
3/5 |
- |
1 |
12-25380177-T-C |
c.281A>G |
p.H94R |
Missense |
3/5 |
- |
1 |
12-25380177-TG-GC |
c.280_281delinsGC |
p.H94A |
Missense |
3/5 |
- |
1 |
12-25380178-G-A |
c.280C>T |
p.H94Y |
Missense |
3/5 |
- |
1 |
12-25380178-G-T |
c.280C>A |
p.H94N |
Missense |
3/5 |
- |
2 |
12-25380179-A-C |
c.279T>G |
p.I93M |
Missense |
3/5 |
- |
2 |
12-25380179-A-G |
c.279T>C |
p.I93= |
Synonymous |
3/5 |
- |
1 |
12-25380179-A-T |
c.279T>A |
p.I93= |
Synonymous |
3/5 |
- |
1 |
12-25380180-A-G |
c.278T>C |
p.I93T |
Missense |
3/5 |
- |
1 |
12-25380180-A-T |
c.278T>A |
p.I93N |
Missense |
3/5 |
- |
1 |
12-25380181-T-A |
c.277A>T |
p.I93F |
Missense |
3/5 |
- |
1 |
12-25380181-T-C |
c.277A>G |
p.I93V |
Missense |
3/5 |
- |
1 |
12-25380182-A-G |
c.276T>C |
p.D92= |
Synonymous |
3/5 |
- |
1 |
12-25380183-T-A |
c.275A>T |
p.D92V |
Missense |
3/5 |
- |
3 |
12-25380183-T-C |
c.275A>G |
p.D92G |
Missense |
3/5 |
- |
2 |
12-25380183-TC-AA |
c.274_275delinsTT |
p.D92F |
Missense |
3/5 |
- |
1 |
12-25380183-TC-CG |
c.274_275delinsCG |
p.D92R |
Missense |
3/5 |
- |
2 |
12-25380184-C-A |
c.274G>T |
p.D92Y |
Missense |
3/5 |
- |
12 |
12-25380184-C-G |
c.274G>C |
p.D92H |
Missense |
3/5 |
- |
3 |
12-25380184-C-T |
c.274G>A |
p.D92N |
Missense |
3/5 |
- |
5 |
12-25380185-T-A |
c.273A>T |
p.E91D |
Missense |
3/5 |
- |
1 |
12-25380185-T-G |
c.273A>C |
p.E91D |
Missense |
3/5 |
- |
1 |
12-25380186-T-C |
c.272A>G |
p.E91G |
Missense |
3/5 |
- |
3 |
12-25380186-T-G |
c.272A>C |
p.E91A |
Missense |
3/5 |
- |
1 |
12-25380187-C-A |
c.271G>T |
p.E91* |
Nonsense |
3/5 |
- |
1 |
12-25380187-C-T |
c.271G>A |
p.E91K |
Missense |
3/5 |
- |
2 |
12-25380189-AA-TC |
c.268_269delinsGA |
p.F90D |
Missense |
3/5 |
- |
1 |
12-25380189-A-T |
c.269T>A |
p.F90Y |
Missense |
3/5 |
- |
1 |
12-25380187-CA-C |
c.270del |
p.F90Lfs*24 |
Frameshift |
3/5 |
- |
1 |
12-25380188-A-C |
c.270T>G |
p.F90L |
Missense |
3/5 |
- |
2 |
12-25380188-A-T |
c.270T>A |
p.F90L |
Missense |
3/5 |
- |
2 |
12-25380190-A-G |
c.268T>C |
p.F90L |
Missense |
3/5 |
- |
2 |
12-25380190-A-T |
c.268T>A |
p.F90I |
Missense |
3/5 |
- |
1 |
12-25380192-G-A |
c.266C>T |
p.S89L |
Missense |
3/5 |
- |
3 |
12-25380192-G-GA |
c.265dup |
p.S89Ffs*3 |
Frameshift |
3/5 |
- |
1 |
12-25380193-A-C |
c.265T>G |
p.S89A |
Missense |
3/5 |
- |
6 |
12-25380193-A-G |
c.265T>C |
p.S89P |
Missense |
3/5 |
- |
1 |
12-25380194-T-C |
c.264A>G |
p.K88= |
Synonymous |
3/5 |
- |
2 |
12-25380194-T-G |
c.264A>C |
p.K88N |
Missense |
3/5 |
- |
2 |
12-25380194-TTT-GTC |
c.262_264delinsGAC |
p.K88D |
Missense |
3/5 |
- |
1 |
12-25380195-T-A |
c.263A>T |
p.K88I |
Missense |
3/5 |
- |
1 |
12-25380195-T-C |
c.263A>G |
p.K88R |
Missense |
3/5 |
- |
3 |
12-25380193-AT-A |
c.264del |
p.K88Nfs*26 |
Frameshift |
3/5 |
- |
2 |
12-25380196-T-A |
c.262A>T |
p.K88* |
Nonsense |
3/5 |
- |
6 |
12-25380196-T-C |
c.262A>G |
p.K88E |
Missense |
3/5 |
- |
3 |
12-25380197-A-G |
c.261T>C |
p.T87= |
Synonymous |
3/5 |
- |
1 |
12-25380197-AGT-TTG |
c.259_261delinsCAA |
p.T87Q |
Missense |
3/5 |
- |
2 |
12-25380198-G-A |
c.260C>T |
p.T87I |
Missense |
3/5 |
- |
1 |
12-25380198-G-GT |
c.259dup |
p.T87Nfs*2 |
Frameshift |
3/5 |
- |
1 |
12-25380199-T-C |
c.259A>G |
p.T87A |
Missense |
3/5 |
- |
2 |
12-25380200-A-C |
c.258T>G |
p.N86K |
Missense |
3/5 |
- |
1 |
12-25380200-A-T |
c.258T>A |
p.N86K |
Missense |
3/5 |
- |
1 |
12-25380200-ATT-CTC |
c.256_258delinsGAG |
p.N86E |
Missense |
3/5 |
- |
1 |
12-25380201-T-A |
c.257A>T |
p.N86I |
Missense |
3/5 |
- |
1 |
12-25380201-T-C |
c.257A>G |
p.N86S |
Missense |
3/5 |
- |
3 |
12-25380201-T-G |
c.257A>C |
p.N86T |
Missense |
3/5 |
- |
1 |
12-25380201-TT-GC |
c.256_257delinsGC |
p.N86A |
Missense |
3/5 |
- |
1 |
12-25380202-T-C |
c.256A>G |
p.N86D |
Missense |
3/5 |
- |
1 |
12-25380202-T-G |
c.256A>C |
p.N86H |
Missense |
3/5 |
- |
2 |
12-25380203-A-T |
c.255T>A |
p.N85K |
Missense |
3/5 |
- |
1 |
12-25380204-T-C |
c.254A>G |
p.N85S |
Missense |
3/5 |
- |
4 |
12-25380204-TT-GC |
c.253_254delinsGC |
p.N85A |
Missense |
3/5 |
- |
1 |
12-25380205-T-A |
c.253A>T |
p.N85Y |
Missense |
3/5 |
- |
1 |
12-25380205-T-C |
c.253A>G |
p.N85D |
Missense |
3/5 |
- |
3 |
12-25380205-T-G |
c.253A>C |
p.N85H |
Missense |
3/5 |
- |
1 |
12-25380206-T-A |
c.252A>T |
p.I84= |
Synonymous |
3/5 |
- |
1 |
12-25380206-T-C |
c.252A>G |
p.I84M |
Missense |
3/5 |
- |
2 |
12-25380206-T-G |
c.252A>C |
p.I84= |
Synonymous |
3/5 |
- |
1 |
12-25380207-A-G |
c.251T>C |
p.I84T |
Missense |
3/5 |
- |
1 |
12-25380207-A-T |
c.251T>A |
p.I84K |
Missense |
3/5 |
- |
3 |
12-25380208-T-C |
c.250A>G |
p.I84V |
Missense |
3/5 |
- |
3 |
12-25380209-G-T |
c.249C>A |
p.A83= |
Synonymous |
3/5 |
- |
1 |
12-25380209-TGGC-T |
c.247_249del |
p.A83del |
InFrameDeletion |
3/5 |
- |
1 |
12-25380208-TG-T |
c.249del |
p.I84* |
Frameshift |
3/5 |
- |
1 |
12-25380210-G-A |
c.248C>T |
p.A83V |
Missense |
3/5 |
- |
1 |
12-25380210-G-C |
c.248C>G |
p.A83G |
Missense |
3/5 |
- |
1 |
12-25380210-G-GA |
c.247_248insT |
p.A83Vfs*4 |
Frameshift |
3/5 |
- |
1 |
12-25380210-G-GT |
c.247_248insA |
p.A83Dfs*4 |
Frameshift |
3/5 |
- |
1 |
12-25380210-G-T |
c.248C>A |
p.A83D |
Missense |
3/5 |
- |
1 |
12-25380211-C-A |
c.247G>T |
p.A83S |
Missense |
3/5 |
- |
5 |
12-25380211-C-G |
c.247G>C |
p.A83P |
Missense |
3/5 |
- |
1 |
12-25380211-C-T |
c.247G>A |
p.A83T |
Missense |
3/5 |
- |
1 |
12-25380212-A-G |
c.246T>C |
p.F82= |
Synonymous |
3/5 |
- |
1 |
12-25380211-CA-C |
c.246del |
p.F82Lfs*3 |
Frameshift |
3/5 |
- |
1 |
12-25380212-A-C |
c.246T>G |
p.F82L |
Missense |
3/5 |
- |
5 |
12-25380212-A-T |
c.246T>A |
p.F82L |
Missense |
3/5 |
- |
2 |
12-25380213-A-AAC |
c.244_245insGT |
p.F82Cfs*4 |
Frameshift |
3/5 |
- |
1 |
12-25380214-A-C |
c.244T>G |
p.F82V |
Missense |
3/5 |
- |
1 |
12-25380214-A-G |
c.244T>C |
p.F82L |
Missense |
3/5 |
- |
2 |
12-25380215-T-A |
c.243A>T |
p.V81= |
Synonymous |
3/5 |
- |
1 |
12-25380215-T-C |
c.243A>G |
p.V81= |
Synonymous |
3/5 |
- |
1 |
12-25380215-T-G |
c.243A>C |
p.V81= |
Synonymous |
3/5 |
- |
1 |
12-25380216-A-C |
c.242T>G |
p.V81G |
Missense |
3/5 |
- |
1 |
12-25380216-A-AC |
c.241dup |
p.V81Gfs*6 |
Frameshift |
3/5 |
- |
1 |
12-25380217-C-A |
c.241G>T |
p.V81L |
Missense |
3/5 |
- |
2 |
12-25380217-C-G |
c.241G>C |
p.V81L |
Missense |
3/5 |
- |
1 |
12-25380217-C-T |
c.241G>A |
p.V81I |
Missense |
3/5 |
- |
2 |
12-25380217-CACA-C |
c.238_240del |
p.C80del |
InFrameDeletion |
3/5 |
- |
1 |
12-25380219-C-A |
c.239G>T |
p.C80F |
Missense |
3/5 |
- |
5 |
12-25380219-CA-AG |
c.238_239delinsCT |
p.C80L |
Missense |
3/5 |
- |
14 |
12-25380219-CA-GC |
c.238_239delinsGC |
p.C80A |
Missense |
3/5 |
- |
2 |
12-25380219-CA-TC |
c.238_239delinsGA |
p.C80D |
Missense |
3/5 |
- |
1 |
12-25380219-C-T |
c.239G>A |
p.C80Y |
Missense |
3/5 |
- |
5 |
12-25380220-A-G |
c.238T>C |
p.C80R |
Missense |
3/5 |
- |
2 |
12-25380220-A-T |
c.238T>A |
p.C80S |
Missense |
3/5 |
- |
3 |
12-25380221-AA-TT |
c.236_237inv |
p.L79Q |
Missense |
3/5 |
- |
2 |
12-25380219-CA-C |
c.238del |
p.C80Vfs*5 |
Frameshift |
3/5 |
- |
1 |
12-25380219-C-CA |
c.238dup |
p.C80Lfs*7 |
Frameshift |
3/5 |
- |
1 |
12-25380222-A-C |
c.236T>G |
p.L79R |
Missense |
3/5 |
- |
1 |
12-25380222-A-G |
c.236T>C |
p.L79P |
Missense |
3/5 |
- |
3 |
12-25380223-G-A |
c.235C>T |
p.L79F |
Missense |
3/5 |
- |
1 |
12-25380223-G-AGA |
c.235delinsTCT |
p.L79Sfs*7 |
Frameshift |
3/5 |
- |
1 |
12-25380223-G-C |
c.235C>G |
p.L79V |
Missense |
3/5 |
- |
1 |
12-25380223-G-T |
c.235C>A |
p.L79I |
Missense |
3/5 |
- |
3 |
12-25380224-A-G |
c.234T>C |
p.F78= |
Synonymous |
3/5 |
- |
2 |
12-25380225-AA-GC |
c.232_233delinsGC |
p.F78A |
Missense |
3/5 |
- |
1 |
12-25380225-AA-TC |
c.232_233delinsGA |
p.F78D |
Missense |
3/5 |
- |
2 |
12-25380225-A-C |
c.233T>G |
p.F78C |
Missense |
3/5 |
- |
1 |
12-25380225-A-G |
c.233T>C |
p.F78S |
Missense |
3/5 |
- |
1 |
12-25380223-G-GA |
c.234dup |
p.L79Sfs*8 |
Frameshift |
3/5 |
- |
1 |
12-25380224-A-C |
c.234T>G |
p.F78L |
Missense |
3/5 |
- |
2 |
12-25380224-A-T |
c.234T>A |
p.F78L |
Missense |
3/5 |
- |
2 |
12-25380226-A-G |
c.232T>C |
p.F78L |
Missense |
3/5 |
- |
3 |
12-25380227-G-A |
c.231C>T |
p.G77= |
Synonymous |
3/5 |
- |
1 |
12-25380227-G-C |
c.231C>G |
p.G77= |
Synonymous |
3/5 |
- |
1 |
12-25380227-G-T |
c.231C>A |
p.G77= |
Synonymous |
3/5 |
- |
2 |
12-25380228-C-A |
c.230G>T |
p.G77V |
Missense |
3/5 |
- |
2 |
12-25380228-C-G |
c.230G>C |
p.G77A |
Missense |
3/5 |
- |
5 |
12-25380228-C-T |
c.230G>A |
p.G77D |
Missense |
3/5 |
- |
1 |
12-25380229-C-A |
c.229G>T |
p.G77C |
Missense |
3/5 |
- |
3 |
12-25380227-GC-G |
c.230del |
p.G77Afs*8 |
Frameshift |
3/5 |
- |
1 |
12-25380227-G-GC |
c.230dup |
p.F78Lfs*9 |
Frameshift |
3/5 |
- |
2 |
12-25380227-G-GCCCC |
c.230_231insGGGG |
p.F78Gfs*10 |
Frameshift |
3/5 |
- |
1 |
12-25380230-C-A |
c.228G>T |
p.E76D |
Missense |
3/5 |
- |
3 |
12-25380230-C-G |
c.228G>C |
p.E76D |
Missense |
3/5 |
- |
3 |
12-25380230-C-T |
c.228G>A |
p.E76= |
Synonymous |
3/5 |
- |
3 |
12-25380231-T-A |
c.227A>T |
p.E76V |
Missense |
3/5 |
- |
3 |
12-25380231-T-C |
c.227A>G |
p.E76G |
Missense |
3/5 |
- |
9 |
12-25380231-T-G |
c.227A>C |
p.E76A |
Missense |
3/5 |
- |
4 |
12-25380232-C-G |
c.226G>C |
p.E76Q |
Missense |
3/5 |
- |
1 |
12-25380232-C-T |
c.226G>A |
p.E76K |
Missense |
3/5 |
- |
9 |
12-25380233-C-A |
c.225G>T |
p.G75= |
Synonymous |
3/5 |
- |
1 |
12-25380233-C-CAGGAG |
c.224_225insCTCCT |
p.E76Sfs*11 |
Frameshift |
3/5 |
- |
1 |
12-25380233-CC-GT |
c.224_225delinsAC |
p.G75D |
Missense |
3/5 |
- |
1 |
12-25380234-C-A |
c.224G>T |
p.G75V |
Missense |
3/5 |
- |
2 |
12-25380234-CC-AG |
c.223_224delinsCT |
p.G75L |
Missense |
3/5 |
- |
1 |
12-25380234-C-G |
c.224G>C |
p.G75A |
Missense |
3/5 |
- |
2 |
12-25380234-C-T |
c.224G>A |
p.G75E |
Missense |
3/5 |
- |
2 |
12-25380231-TC-T |
c.226del |
p.E76Rfs*9 |
Frameshift |
3/5 |
- |
1 |
12-25380231-T-TC |
c.226dup |
p.E76Gfs*11 |
Frameshift |
3/5 |
- |
1 |
12-25380235-C-A |
c.223G>T |
p.G75W |
Missense |
3/5 |
- |
1 |
12-25380235-C-T |
c.223G>A |
p.G75R |
Missense |
3/5 |
- |
1 |
12-25380236-A-C |
c.222T>G |
p.T74= |
Synonymous |
3/5 |
- |
5 |
12-25380236-A-G |
c.222T>C |
p.T74= |
Synonymous |
3/5 |
- |
4 |
12-25380236-AGT-CTC |
c.220_222delinsGAG |
p.T74E |
Missense |
3/5 |
- |
1 |
12-25380236-A-T |
c.222T>A |
p.T74= |
Synonymous |
3/5 |
- |
4 |
12-25380237-AG-A |
c.221del |
p.T74Mfs*11 |
Frameshift |
3/5 |
- |
1 |
12-25380237-G-A |
c.221C>T |
p.T74I |
Missense |
3/5 |
- |
2 |
12-25380237-G-C |
c.221C>G |
p.T74S |
Missense |
3/5 |
- |
1 |
12-25380237-GT-TC |
c.220_221delinsGA |
p.T74D |
Missense |
3/5 |
- |
1 |
12-25380238-T-C |
c.220A>G |
p.T74A |
Missense |
3/5 |
- |
3 |
12-25380238-T-G |
c.220A>C |
p.T74P |
Missense |
3/5 |
- |
19 |
12-25380239-C-A |
c.219G>T |
p.R73S |
Missense |
3/5 |
- |
2 |
12-25380239-CCT-ACA |
c.217_219delinsTGT |
p.R73C |
Missense |
3/5 |
- |
1 |
12-25380239-CCT-ATG |
c.217_219delinsCAT |
p.R73H |
Missense |
3/5 |
- |
3 |
12-25380239-C-T |
c.219G>A |
p.R73= |
Synonymous |
3/5 |
- |
15 |
12-25380241-T-G |
c.217A>C |
p.R73= |
Synonymous |
3/5 |
- |
4 |
12-25380238-T-TC |
c.219dup |
p.T74Dfs*13 |
Frameshift |
3/5 |
- |
1 |
12-25380240-C-A |
c.218G>T |
p.R73M |
Missense |
3/5 |
- |
5 |
12-25380240-C-T |
c.218G>A |
p.R73K |
Missense |
3/5 |
- |
3 |
12-25380240-CT-AG |
c.217_218inv |
p.R73L |
Missense |
3/5 |
- |
1 |
12-25380240-CT-GC |
c.217_218delinsGC |
p.R73A |
Missense |
3/5 |
- |
2 |
12-25380240-CT-TC |
c.217_218delinsGA |
p.R73E |
Missense |
3/5 |
- |
2 |
12-25380241-T-A |
c.217A>T |
p.R73W |
Missense |
3/5 |
- |
1 |
12-25380241-T-C |
c.217A>G |
p.R73G |
Missense |
3/5 |
- |
3 |
12-25380242-C-A |
c.216G>T |
p.M72I |
Missense |
3/5 |
- |
7 |
12-25380242-CAT-ACA |
c.214_216delinsTGT |
p.M72C |
Missense |
3/5 |
- |
7 |
12-25380242-C-G |
c.216G>C |
p.M72I |
Missense |
3/5 |
- |
7 |
12-25380242-C-T |
c.216G>A |
p.M72I |
Missense |
3/5 |
- |
12 |
12-25380243-A-G |
c.215T>C |
p.M72T |
Missense |
3/5 |
- |
3 |
12-25380244-T-A |
c.214A>T |
p.M72L |
Missense |
3/5 |
- |
7 |
12-25380244-T-C |
c.214A>G |
p.M72V |
Missense |
3/5 |
- |
6 |
12-25380244-T-G |
c.214A>C |
p.M72L |
Missense |
3/5 |
- |
4 |
12-25380238-TCCTCATGTACTGGTC-T |
c.205_219del |
p.D69_R73del |
InFrameDeletion |
3/5 |
- |
1 |
12-25380245-G-A |
c.213C>T |
p.Y71= |
Synonymous |
3/5 |
- |
2 |
12-25380245-TG-T |
c.213del |
p.Y71* |
Frameshift |
3/5 |
- |
1 |
12-25380246-GT-G |
c.212del |
p.Y71Sfs*2 |
Frameshift |
3/5 |
- |
1 |
12-25380246-TA-GC |
c.211_212delinsGC |
p.Y71A |
Missense |
3/5 |
- |
1 |
12-25380246-T-C |
c.212A>G |
p.Y71C |
Missense |
3/5 |
- |
7 |
12-25380247-A-C |
c.211T>G |
p.Y71D |
Missense |
3/5 |
- |
10 |
12-25380247-A-G |
c.211T>C |
p.Y71H |
Missense |
3/5 |
- |
19 |
12-25380247-A-T |
c.211T>A |
p.Y71N |
Missense |
3/5 |
- |
2 |
12-25380248-AC-A |
c.210del |
p.Q70Hfs*3 |
Frameshift |
3/5 |
- |
1 |
12-25380248-C-A |
c.210G>T |
p.Q70H |
Missense |
3/5 |
- |
2 |
12-25380248-C-T |
c.210G>A |
p.Q70= |
Synonymous |
3/5 |
- |
3 |
12-25380249-T-A |
c.209A>T |
p.Q70L |
Missense |
3/5 |
- |
2 |
12-25380249-T-C |
c.209A>G |
p.Q70R |
Missense |
3/5 |
- |
2 |
12-25380249-T-G |
c.209A>C |
p.Q70P |
Missense |
3/5 |
- |
3 |
12-25380250-G-A |
c.208C>T |
p.Q70* |
Nonsense |
3/5 |
- |
3 |
12-25380250-G-C |
c.208C>G |
p.Q70E |
Missense |
3/5 |
- |
1 |
12-25380249-TG-T |
c.208del |
p.Q70Sfs*3 |
Frameshift |
3/5 |
- |
1 |
12-25380251-G-A |
c.207C>T |
p.D69= |
Synonymous |
3/5 |
- |
2 |
12-25380251-G-T |
c.207C>A |
p.D69E |
Missense |
3/5 |
- |
1 |
12-25380252-T-C |
c.206A>G |
p.D69G |
Missense |
3/5 |
- |
4 |
12-25380252-TC-AA |
c.205_206delinsTT |
p.D69F |
Missense |
3/5 |
- |
1 |
12-25380252-TC-CA |
c.205_206delinsTG |
p.D69C |
Missense |
3/5 |
- |
2 |
12-25380252-TC-GG |
c.205_206delinsCC |
p.D69P |
Missense |
3/5 |
- |
2 |
12-25380253-C-A |
c.205G>T |
p.D69Y |
Missense |
3/5 |
- |
4 |
12-25380253-C-G |
c.205G>C |
p.D69H |
Missense |
3/5 |
- |
1 |
12-25380253-C-T |
c.205G>A |
p.D69N |
Missense |
3/5 |
- |
6 |
12-25380254-C-A |
c.204G>T |
p.R68S |
Missense |
3/5 |
- |
59 |
12-25380254-CCT-AAGTACTGTACAGTC |
c.202_204delinsGACTGTACAGTACTT |
p.R68delinsDCTVL |
MultiAAMissense |
3/5 |
- |
1 |
12-25380254-CCT-ACA |
c.202_204delinsTGT |
p.R68C |
Missense |
3/5 |
- |
1 |
12-25380254-CCTCATTG-AAGTACTGTACAGT |
c.197_204delinsACTGTACAGTACTT |
p.A66_R68delinsDCTVL |
MultiAAMissense |
3/5 |
- |
1 |
12-25380254-CCT-GTC |
c.202_204delinsGAC |
p.R68D |
Missense |
3/5 |
- |
1 |
12-25380254-C-G |
c.204G>C |
p.R68S |
Missense |
3/5 |
- |
57 |
12-25380254-C-T |
c.204G>A |
p.R68= |
Synonymous |
3/5 |
- |
2 |
12-25380256-T-G |
c.202A>C |
p.R68= |
Synonymous |
3/5 |
- |
2 |
12-25380252-TC-T |
c.205del |
p.D69Tfs*4 |
Frameshift |
3/5 |
- |
2 |
12-25380252-T-TC |
c.205dup |
p.D69Gfs*18 |
Frameshift |
3/5 |
- |
1 |
12-25380253-CCCT-C |
c.202_204del |
p.R68del |
InFrameDeletion |
3/5 |
- |
1 |
12-25380255-C-A |
c.203G>T |
p.R68M |
Missense |
3/5 |
- |
29 |
12-25380255-C-T |
c.203G>A |
p.R68K |
Missense |
3/5 |
- |
1 |
12-25380255-CT-AG |
c.202_203inv |
p.R68L |
Missense |
3/5 |
- |
2 |
12-25380255-CT-GC |
c.202_203delinsGC |
p.R68A |
Missense |
3/5 |
- |
1 |
12-25380255-CT-TA |
c.202_203delinsTA |
p.R68* |
Nonsense |
3/5 |
- |
1 |
12-25380255-CT-TC |
c.202_203delinsGA |
p.R68E |
Missense |
3/5 |
- |
1 |
12-25380254-CCTCATTG-C |
c.197_203del |
p.A66Gfs*5 |
Frameshift |
3/5 |
- |
1 |
12-25380256-T-A |
c.202A>T |
p.R68W |
Missense |
3/5 |
- |
4 |
12-25380256-T-C |
c.202A>G |
p.R68G |
Missense |
3/5 |
- |
6 |
12-25380257-C-A |
c.201G>T |
p.M67I |
Missense |
3/5 |
- |
3 |
12-25380257-CAT-ACA |
c.199_201delinsTGT |
p.M67C |
Missense |
3/5 |
- |
1 |
12-25380257-C-G |
c.201G>C |
p.M67I |
Missense |
3/5 |
- |
2 |
12-25380257-C-T |
c.201G>A |
p.M67I |
Missense |
3/5 |
- |
7 |
12-25380258-A-G |
c.200T>C |
p.M67T |
Missense |
3/5 |
- |
3 |
12-25380258-A-T |
c.200T>A |
p.M67K |
Missense |
3/5 |
- |
1 |
12-25380259-T-A |
c.199A>T |
p.M67L |
Missense |
3/5 |
- |
1 |
12-25380259-T-C |
c.199A>G |
p.M67V |
Missense |
3/5 |
- |
3 |
12-25380259-T-G |
c.199A>C |
p.M67L |
Missense |
3/5 |
- |
3 |
12-25380260-T-A |
c.198A>T |
p.A66= |
Synonymous |
3/5 |
- |
4 |
12-25380260-T-C |
c.198A>G |
p.A66= |
Synonymous |
3/5 |
- |
6 |
12-25380260-T-G |
c.198A>C |
p.A66= |
Synonymous |
3/5 |
- |
4 |
12-25380260-TGC-AAA |
c.196_198delinsTTT |
p.A66F |
Missense |
3/5 |
- |
3 |
12-25380260-TGC-ACA |
c.196_198delinsTGT |
p.A66C |
Missense |
3/5 |
- |
4 |
12-25380260-TGC-ATA |
c.196_198delinsTAT |
p.A66Y |
Missense |
3/5 |
- |
1 |
12-25380260-TGC-ATG |
c.196_198delinsCAT |
p.A66H |
Missense |
3/5 |
- |
2 |
12-25380260-TGC-GTT |
c.196_198delinsAAC |
p.A66N |
Missense |
3/5 |
- |
2 |
12-25380260-TG-GT |
c.197_198delinsAC |
p.A66D |
Missense |
3/5 |
- |
1 |
12-25380260-TTGC-T |
c.196_198del |
p.A66del |
InFrameDeletion |
3/5 |
- |
1 |
12-25380261-G-A |
c.197C>T |
p.A66V |
Missense |
3/5 |
- |
8 |
12-25380261-G-C |
c.197C>G |
p.A66G |
Missense |
3/5 |
- |
3 |
12-25380261-GC-AG |
c.196_197delinsCT |
p.A66L |
Missense |
3/5 |
- |
1 |
12-25380261-GC-AT |
c.196_197delinsAT |
p.A66I |
Missense |
3/5 |
- |
2 |
12-25380261-GC-TA |
c.196_197delinsTA |
p.A66* |
Nonsense |
3/5 |
- |
2 |
12-25380261-GC-TT |
c.196_197delinsAA |
p.A66K |
Missense |
3/5 |
- |
1 |
12-25380261-G-T |
c.197C>A |
p.A66E |
Missense |
3/5 |
- |
3 |
12-25380261-G-GCGCTGT |
c.196_197insACAGCG |
p.S65_A66insDS |
InFrameInsertion |
3/5 |
- |
1 |
12-25380262-C-A |
c.196G>T |
p.A66S |
Missense |
3/5 |
- |
4 |
12-25380262-C-G |
c.196G>C |
p.A66P |
Missense |
3/5 |
- |
4 |
12-25380262-C-T |
c.196G>A |
p.A66T |
Missense |
3/5 |
- |
3 |
12-25380263-ACT-CCA |
c.193_195delinsTGG |
p.S65W |
Missense |
3/5 |
- |
2 |
12-25380263-A-G |
c.195T>C |
p.S65= |
Synonymous |
3/5 |
- |
2 |
12-25380263-A-T |
c.195T>A |
p.S65R |
Missense |
3/5 |
- |
1 |
12-25380263-CACT-C |
c.193_195del |
p.S65del |
InFrameDeletion |
3/5 |
- |
1 |
12-25380264-C-A |
c.194G>T |
p.S65I |
Missense |
3/5 |
- |
12 |
12-25380264-C-G |
c.194G>C |
p.S65T |
Missense |
3/5 |
- |
2 |
12-25380264-C-T |
c.194G>A |
p.S65N |
Missense |
3/5 |
- |
11 |
12-25380264-CT-GC |
c.193_194delinsGC |
p.S65A |
Missense |
3/5 |
- |
1 |
12-25380265-T-A |
c.193A>T |
p.S65C |
Missense |
3/5 |
- |
1 |
12-25380265-T-C |
c.193A>G |
p.S65G |
Missense |
3/5 |
- |
3 |
12-25380265-T-TATACTCCTCTTGACCTGC |
c.192_193insGCAGGTCAAGAGGAGTAT |
p.A59_Y64dup |
InFrameInsertion |
3/5 |
- |
1 |
12-25380266-G-A |
c.192C>T |
p.Y64= |
Synonymous |
3/5 |
- |
3 |
12-25380266-G-C |
c.192C>G |
p.Y64* |
Nonsense |
3/5 |
- |
1 |
12-25380266-G-T |
c.192C>A |
p.Y64* |
Nonsense |
3/5 |
- |
2 |
12-25380267-T-A |
c.191A>T |
p.Y64F |
Missense |
3/5 |
- |
2 |
12-25380267-TA-CC |
c.190_191delinsGG |
p.Y64G |
Missense |
3/5 |
- |
3 |
12-25380267-TA-GC |
c.190_191delinsGC |
p.Y64A |
Missense |
3/5 |
- |
18 |
12-25380267-T-C |
c.191A>G |
p.Y64C |
Missense |
3/5 |
- |
5 |
12-25380260-T-TGCACTGTAGAGGCATGGG |
c.197_198insCCCATGCCTCTACAGTGC |
p.A66_M67insPCLYSA |
InFrameInsertion |
3/5 |
- |
1 |
12-25380268-A-C |
c.190T>G |
p.Y64D |
Missense |
3/5 |
- |
15 |
12-25380268-A-G |
c.190T>C |
p.Y64H |
Missense |
3/5 |
- |
8 |
12-25380268-A-T |
c.190T>A |
p.Y64N |
Missense |
3/5 |
- |
14 |
12-25380269-C-A |
c.189G>T |
p.E63D |
Missense |
3/5 |
- |
9 |
12-25380269-C-G |
c.189G>C |
p.E63D |
Missense |
3/5 |
- |
6 |
12-25380269-C-T |
c.189G>A |
p.E63= |
Synonymous |
3/5 |
- |
3 |
12-25380269-CTC-ACA |
c.187_189delinsTGT |
p.E63C |
Missense |
3/5 |
- |
2 |
12-25380269-CTC-ATG |
c.187_189delinsCAT |
p.E63H |
Missense |
3/5 |
- |
1 |
12-25380269-C-CTGG |
c.188_189insCCA |
p.E63delinsDQ |
MultiAAMissense |
3/5 |
- |
1 |
12-25380270-T-A |
c.188A>T |
p.E63V |
Missense |
3/5 |
- |
1 |
12-25380270-T-C |
c.188A>G |
p.E63G |
Missense |
3/5 |
- |
4 |
12-25380270-TC-GG |
c.187_188delinsCC |
p.E63P |
Missense |
3/5 |
- |
1 |
12-25380270-T-G |
c.188A>C |
p.E63A |
Missense |
3/5 |
- |
1 |
12-25380271-C-G |
c.187G>C |
p.E63Q |
Missense |
3/5 |
- |
2 |
12-25380271-C-T |
c.187G>A |
p.E63K |
Missense |
3/5 |
- |
57 |
12-25380271-TCC-T |
c.186_187del |
p.E63Vfs*23 |
Frameshift |
3/5 |
- |
1 |
12-25380268-ACTC-A |
c.187_189del |
p.E63del |
InFrameDeletion |
3/5 |
- |
6 |
12-25380271-C-CCCTCATTGCACTGTACTT |
c.186_187insAAGTACAGTGCAATGAGG |
p.E62_E63insKYSAMR |
InFrameInsertion |
3/5 |
- |
1 |
12-25380272-C-A |
c.186G>T |
p.E62D |
Missense |
3/5 |
- |
5 |
12-25380272-C-G |
c.186G>C |
p.E62D |
Missense |
3/5 |
- |
3 |
12-25380272-C-T |
c.186G>A |
p.E62= |
Synonymous |
3/5 |
- |
6 |
12-25380272-CTC-ACA |
c.184_186delinsTGT |
p.E62C |
Missense |
3/5 |
- |
1 |
12-25380273-T-C |
c.185A>G |
p.E62G |
Missense |
3/5 |
- |
3 |
12-25380273-TC-CT |
c.184_185delinsAG |
p.E62R |
Missense |
3/5 |
- |
1 |
12-25380273-T-G |
c.185A>C |
p.E62A |
Missense |
3/5 |
- |
2 |
12-25380273-T-TG |
c.184_185insC |
p.E62Afs*25 |
Frameshift |
3/5 |
- |
1 |
12-25380274-C-A |
c.184G>T |
p.E62* |
Nonsense |
3/5 |
- |
3 |
12-25380274-C-G |
c.184G>C |
p.E62Q |
Missense |
3/5 |
- |
1 |
12-25380274-C-T |
c.184G>A |
p.E62K |
Missense |
3/5 |
- |
24 |
12-25380275-T-A |
c.183A>T |
p.Q61H |
Missense |
3/5 |
- |
912 |
12-25380275-T-C |
c.183A>G |
p.Q61= |
Synonymous |
3/5 |
- |
3 |
12-25380275-T-G |
c.183A>C |
p.Q61H |
Missense |
3/5 |
- |
1005 |
12-25380275-TTG-ACA |
c.181_183delinsTGT |
p.Q61C |
Missense |
3/5 |
- |
2 |
12-25380275-TTG-CAT |
c.181_183delinsATG |
p.Q61M |
Missense |
3/5 |
- |
1 |
12-25380275-TTG-GTC |
c.181_183delinsGAC |
p.Q61D |
Missense |
3/5 |
- |
2 |
12-25380275-TTG-GTT |
c.181_183delinsAAC |
p.Q61N |
Missense |
3/5 |
- |
2 |
12-25380274-C-CT |
c.183dup |
p.E62Rfs*25 |
Frameshift |
3/5 |
- |
1 |
12-25380276-T-A |
c.182A>T |
p.Q61L |
Missense |
3/5 |
- |
501 |
12-25380276-T-C |
c.182A>G |
p.Q61R |
Missense |
3/5 |
- |
457 |
12-25380276-T-G |
c.182A>C |
p.Q61P |
Missense |
3/5 |
- |
104 |
12-25380276-TG-AC |
c.181_182delinsGT |
p.Q61V |
Missense |
3/5 |
- |
1 |
12-25380276-TG-CC |
c.181_182delinsGG |
p.Q61G |
Missense |
3/5 |
- |
1 |
12-25380276-TG-GA |
c.181_182delinsTC |
p.Q61S |
Missense |
3/5 |
- |
1 |
12-25380276-TG-GC |
c.181_182delinsGC |
p.Q61A |
Missense |
3/5 |
- |
8 |
12-25380276-T-TGTA |
c.181_182insTAC |
p.G60_Q61insL |
InFrameInsertion |
3/5 |
- |
1 |
12-25380277-G-A |
c.181C>T |
p.Q61* |
Nonsense |
3/5 |
- |
41 |
12-25380277-G-C |
c.181C>G |
p.Q61E |
Missense |
3/5 |
- |
86 |
12-25380277-G-T |
c.181C>A |
p.Q61K |
Missense |
3/5 |
- |
315 |
12-25380278-A-C |
c.180T>G |
p.G60= |
Synonymous |
3/5 |
- |
16 |
12-25380278-AC-CT |
c.179_180delinsAG |
p.G60E |
Missense |
3/5 |
- |
3 |
12-25380278-A-G |
c.180T>C |
p.G60= |
Synonymous |
3/5 |
- |
18 |
12-25380278-A-T |
c.180T>A |
p.G60= |
Synonymous |
3/5 |
- |
29 |
12-25380279-C-A |
c.179G>T |
p.G60V |
Missense |
3/5 |
- |
29 |
12-25380279-CCTG-GAGT |
c.176_179delinsACTC |
p.A59_G60delinsDS |
MultiAAMissense |
3/5 |
- |
1 |
12-25380279-C-G |
c.179G>C |
p.G60A |
Missense |
3/5 |
- |
13 |
12-25380279-C-T |
c.179G>A |
p.G60D |
Missense |
3/5 |
- |
54 |
12-25380278-AC-A |
c.179del |
p.G60Vfs*8 |
Frameshift |
3/5 |
- |
1 |
12-25380280-C-A |
c.178G>T |
p.G60C |
Missense |
3/5 |
- |
3 |
12-25380280-C-G |
c.178G>C |
p.G60R |
Missense |
3/5 |
- |
40 |
12-25380280-C-T |
c.178G>A |
p.G60S |
Missense |
3/5 |
- |
21 |
12-25380280-C-CT |
c.177dup |
p.G60Rfs*27 |
Frameshift |
3/5 |
- |
1 |
12-25380281-T-A |
c.177A>T |
p.A59= |
Synonymous |
3/5 |
- |
3 |
12-25380281-T-C |
c.177A>G |
p.A59= |
Synonymous |
3/5 |
- |
4 |
12-25380281-T-G |
c.177A>C |
p.A59= |
Synonymous |
3/5 |
- |
3 |
12-25380281-TGC-AAA |
c.175_177delinsTTT |
p.A59F |
Missense |
3/5 |
- |
2 |
12-25380281-TGC-ACA |
c.175_177delinsTGT |
p.A59C |
Missense |
3/5 |
- |
2 |
12-25380281-TGCTGT-CAG |
c.172_177delinsCTG |
p.T58_A59delinsL |
MultiAAMissense |
3/5 |
- |
1 |
12-25380281-TG-GT |
c.176_177delinsAC |
p.A59D |
Missense |
3/5 |
- |
6 |
12-25380282-G-A |
c.176C>T |
p.A59V |
Missense |
3/5 |
- |
20 |
12-25380282-G-C |
c.176C>G |
p.A59G |
Missense |
3/5 |
- |
108 |
12-25380282-GC-AG |
c.175_176delinsCT |
p.A59L |
Missense |
3/5 |
- |
1 |
12-25380282-GC-AT |
c.175_176delinsAT |
p.A59I |
Missense |
3/5 |
- |
1 |
12-25380282-GC-CT |
c.175_176delinsAG |
p.A59R |
Missense |
3/5 |
- |
1 |
12-25380282-GC-TA |
c.175_176delinsTA |
p.A59* |
Nonsense |
3/5 |
- |
4 |
12-25380282-GC-TG |
c.175_176delinsCA |
p.A59Q |
Missense |
3/5 |
- |
1 |
12-25380282-GC-TT |
c.175_176delinsAA |
p.A59K |
Missense |
3/5 |
- |
8 |
12-25380282-G-T |
c.176C>A |
p.A59E |
Missense |
3/5 |
- |
78 |
12-25380282-TG-T |
c.176del |
p.A59Efs*9 |
Frameshift |
3/5 |
- |
1 |
12-25380279-CCTG-C |
c.176_178del |
p.A59del |
InFrameDeletion |
3/5 |
- |
12 |
12-25380283-C-A |
c.175G>T |
p.A59S |
Missense |
3/5 |
- |
32 |
12-25380283-C-G |
c.175G>C |
p.A59P |
Missense |
3/5 |
- |
1 |
12-25380283-C-T |
c.175G>A |
p.A59T |
Missense |
3/5 |
- |
189 |
12-25380284-T-A |
c.174A>T |
p.T58= |
Synonymous |
3/5 |
- |
2 |
12-25380284-T-C |
c.174A>G |
p.T58= |
Synonymous |
3/5 |
- |
3 |
12-25380284-T-G |
c.174A>C |
p.T58= |
Synonymous |
3/5 |
- |
2 |
12-25380284-TG-CA |
c.173_174inv |
p.T58M |
Missense |
3/5 |
- |
1 |
12-25380284-TGT-ACA |
c.172_174inv |
p.T58C |
Missense |
3/5 |
- |
1 |
12-25380284-T-TG |
c.173dup |
p.A59Sfs*28 |
Frameshift |
3/5 |
- |
1 |
12-25380285-G-A |
c.173C>T |
p.T58I |
Missense |
3/5 |
- |
108 |
12-25380285-G-C |
c.173C>G |
p.T58R |
Missense |
3/5 |
- |
1 |
12-25380285-G-T |
c.173C>A |
p.T58K |
Missense |
3/5 |
- |
1 |
12-25380285-GT-TA |
c.172_173delinsTA |
p.T58* |
Nonsense |
3/5 |
- |
1 |
12-25380286-T-A |
c.172A>T |
p.T58S |
Missense |
3/5 |
- |
1 |
12-25380286-T-C |
c.172A>G |
p.T58A |
Missense |
3/5 |
- |
34 |
12-25380286-T-G |
c.172A>C |
p.T58P |
Missense |
3/5 |
- |
1 |
12-25380287-G-A |
c.171C>T |
p.D57= |
Synonymous |
3/5 |
- |
2 |
12-25380287-G-T |
c.171C>A |
p.D57E |
Missense |
3/5 |
- |
1 |
12-25380288-T-A |
c.170A>T |
p.D57V |
Missense |
3/5 |
- |
2 |
12-25380288-T-C |
c.170A>G |
p.D57G |
Missense |
3/5 |
- |
2 |
12-25380288-T-G |
c.170A>C |
p.D57A |
Missense |
3/5 |
- |
2 |
12-25380289-C-A |
c.169G>T |
p.D57Y |
Missense |
3/5 |
- |
2 |
12-25380289-C-G |
c.169G>C |
p.D57H |
Missense |
3/5 |
- |
1 |
12-25380289-C-T |
c.169G>A |
p.D57N |
Missense |
3/5 |
- |
20 |
12-25380290-CG-C |
c.168del |
p.D57Tfs*11 |
Frameshift |
3/5 |
- |
1 |
12-25380290-G-A |
c.168C>T |
p.L56= |
Synonymous |
3/5 |
- |
3 |
12-25380290-G-C |
c.168C>G |
p.L56= |
Synonymous |
3/5 |
- |
2 |
12-25380290-G-T |
c.168C>A |
p.L56= |
Synonymous |
3/5 |
- |
3 |
12-25380291-A-G |
c.167T>C |
p.L56P |
Missense |
3/5 |
- |
2 |
12-25380292-G-A |
c.166C>T |
p.L56F |
Missense |
3/5 |
- |
2 |
12-25380292-G-C |
c.166C>G |
p.L56V |
Missense |
3/5 |
- |
1 |
12-25380292-G-T |
c.166C>A |
p.L56I |
Missense |
3/5 |
- |
3 |
12-25380293-A-C |
c.165T>G |
p.I55M |
Missense |
3/5 |
- |
1 |
12-25380293-A-G |
c.165T>C |
p.I55= |
Synonymous |
3/5 |
- |
1 |
12-25380293-A-T |
c.165T>A |
p.I55= |
Synonymous |
3/5 |
- |
1 |
12-25380294-A-G |
c.164T>C |
p.I55T |
Missense |
3/5 |
- |
2 |
12-25380295-T-A |
c.163A>T |
p.I55F |
Missense |
3/5 |
- |
1 |
12-25380295-T-C |
c.163A>G |
p.I55V |
Missense |
3/5 |
- |
3 |
12-25380296-A-G |
c.162T>C |
p.D54= |
Synonymous |
3/5 |
- |
1 |
12-25380296-ATC-CTT |
c.160_162delinsAAG |
p.D54K |
Missense |
3/5 |
- |
1 |
12-25380296-TATC-T |
c.160_162del |
p.D54del |
InFrameDeletion |
3/5 |
- |
1 |
12-25380297-T-C |
c.161A>G |
p.D54G |
Missense |
3/5 |
- |
2 |
12-25380297-TC-CG |
c.160_161delinsCG |
p.D54R |
Missense |
3/5 |
- |
1 |
12-25380297-T-TA |
c.160_161insT |
p.D54Vfs*33 |
Frameshift |
3/5 |
- |
1 |
12-25380298-C-A |
c.160G>T |
p.D54Y |
Missense |
3/5 |
- |
7 |
12-25380298-C-T |
c.160G>A |
p.D54N |
Missense |
3/5 |
- |
6 |
12-25380297-TC-T |
c.160del |
p.D54Ifs*14 |
Frameshift |
3/5 |
- |
1 |
12-25380297-T-TC |
c.160dup |
p.D54Gfs*33 |
Frameshift |
3/5 |
- |
1 |
12-25380299-C-A |
c.159G>T |
p.L53F |
Missense |
3/5 |
- |
3 |
12-25380299-C-G |
c.159G>C |
p.L53F |
Missense |
3/5 |
- |
1 |
12-25380300-AA-CT |
c.157_158delinsAG |
p.L53R |
Missense |
3/5 |
- |
1 |
12-25380300-AA-TG |
c.157_158delinsCA |
p.L53Q |
Missense |
3/5 |
- |
1 |
12-25380300-A-C |
c.158T>G |
p.L53W |
Missense |
3/5 |
- |
1 |
12-25380300-A-G |
c.158T>C |
p.L53S |
Missense |
3/5 |
- |
1 |
12-25380300-A-T |
c.158T>A |
p.L53* |
Nonsense |
3/5 |
- |
1 |
12-25380299-C-T |
c.159G>A |
p.L53= |
Synonymous |
3/5 |
- |
2 |
12-25380301-A-C |
c.157T>G |
p.L53V |
Missense |
3/5 |
- |
1 |
12-25380301-A-G |
c.157T>C |
p.L53= |
Synonymous |
3/5 |
- |
4 |
12-25380302-G-A |
c.156C>T |
p.L52= |
Synonymous |
3/5 |
- |
4 |
12-25380302-GAG-TTA |
c.154_156delinsTAA |
p.L52* |
Nonsense |
3/5 |
- |
1 |
12-25380302-GA-TT |
c.155_156delinsAA |
p.L52Q |
Missense |
3/5 |
- |
1 |
12-25380302-G-C |
c.156C>G |
p.L52= |
Synonymous |
3/5 |
- |
3 |
12-25380302-G-T |
c.156C>A |
p.L52= |
Synonymous |
3/5 |
- |
3 |
12-25380303-A-G |
c.155T>C |
p.L52P |
Missense |
3/5 |
- |
2 |
12-25380303-AG-GC |
c.154_155delinsGC |
p.L52A |
Missense |
3/5 |
- |
1 |
12-25380304-G-A |
c.154C>T |
p.L52F |
Missense |
3/5 |
- |
5 |
12-25380305-A-C |
c.153T>G |
p.C51W |
Missense |
3/5 |
- |
1 |
12-25380305-A-G |
c.153T>C |
p.C51= |
Synonymous |
3/5 |
- |
3 |
12-25380306-C-A |
c.152G>T |
p.C51F |
Missense |
3/5 |
- |
3 |
12-25380306-CA-GT |
c.151_152delinsAC |
p.C51T |
Missense |
3/5 |
- |
2 |
12-25380306-C-T |
c.152G>A |
p.C51Y |
Missense |
3/5 |
- |
3 |
12-25380306-C-G |
c.152G>C |
p.C51S |
Missense |
3/5 |
- |
12 |
12-25380307-A-G |
c.151T>C |
p.C51R |
Missense |
3/5 |
- |
6 |
12-25380307-A-T |
c.151T>A |
p.C51S |
Missense |
3/5 |
- |
13 |
12-25380308-G-A |
c.150C>T |
p.T50= |
Synonymous |
3/5 |
- |
2 |
12-25380308-G-C |
c.150C>G |
p.T50= |
Synonymous |
3/5 |
- |
2 |
12-25380308-GG-CA |
c.149_150delinsTG |
p.T50M |
Missense |
3/5 |
- |
1 |
12-25380308-GG-CC |
c.149_150inv |
p.T50R |
Missense |
3/5 |
- |
1 |
12-25380308-GG-CT |
c.149_150delinsAG |
p.T50K |
Missense |
3/5 |
- |
2 |
12-25380308-G-T |
c.150C>A |
p.T50= |
Synonymous |
3/5 |
- |
3 |
12-25380307-AG-A |
c.150del |
p.C51Vfs*17 |
Frameshift |
3/5 |
- |
1 |
12-25380309-G-A |
c.149C>T |
p.T50I |
Missense |
3/5 |
- |
23 |
12-25380310-T-A |
c.148A>T |
p.T50S |
Missense |
3/5 |
- |
1 |
12-25380310-T-C |
c.148A>G |
p.T50A |
Missense |
3/5 |
- |
5 |
12-25380310-T-G |
c.148A>C |
p.T50P |
Missense |
3/5 |
- |
3 |
12-25380311-T-C |
c.147A>G |
p.E49= |
Synonymous |
3/5 |
- |
3 |
12-25380311-TTC-ACA |
c.145_147delinsTGT |
p.E49C |
Missense |
3/5 |
- |
1 |
12-25380311-TTC-CCA |
c.145_147delinsTGG |
p.E49W |
Missense |
3/5 |
- |
1 |
12-25380309-G-GT |
c.148dup |
p.T50Nfs*37 |
Frameshift |
3/5 |
- |
1 |
12-25380312-T-A |
c.146A>T |
p.E49V |
Missense |
3/5 |
- |
1 |
12-25380312-T-C |
c.146A>G |
p.E49G |
Missense |
3/5 |
- |
1 |
12-25380312-T-G |
c.146A>C |
p.E49A |
Missense |
3/5 |
- |
2 |
12-25380313-C-A |
c.145G>T |
p.E49* |
Nonsense |
3/5 |
- |
1 |
12-25380313-C-G |
c.145G>C |
p.E49Q |
Missense |
3/5 |
- |
2 |
12-25380313-C-T |
c.145G>A |
p.E49K |
Missense |
3/5 |
- |
15 |
12-25380314-CT-C |
c.144del |
p.E49Kfs*19 |
Frameshift |
3/5 |
- |
1 |
12-25380314-T-A |
c.144A>T |
p.G48= |
Synonymous |
3/5 |
- |
3 |
12-25380314-T-C |
c.144A>G |
p.G48= |
Synonymous |
3/5 |
- |
3 |
12-25380314-TCC-GCT |
c.142_144delinsAGC |
p.G48S |
Missense |
3/5 |
- |
1 |
12-25380314-T-G |
c.144A>C |
p.G48= |
Synonymous |
3/5 |
- |
2 |
12-25380315-C-A |
c.143G>T |
p.G48V |
Missense |
3/5 |
- |
1 |
12-25380315-C-G |
c.143G>C |
p.G48A |
Missense |
3/5 |
- |
3 |
12-25380315-C-T |
c.143G>A |
p.G48E |
Missense |
3/5 |
- |
4 |
12-25380314-TC-T |
c.143del |
p.G48Efs*20 |
Frameshift |
3/5 |
- |
1 |
12-25380316-C-A |
c.142G>T |
p.G48* |
Nonsense |
3/5 |
- |
1 |
12-25380316-C-G |
c.142G>C |
p.G48R |
Missense |
3/5 |
- |
4 |
12-25380316-C-T |
c.142G>A |
p.G48R |
Missense |
3/5 |
- |
5 |
12-25380317-A-C |
c.141T>G |
p.D47E |
Missense |
3/5 |
- |
2 |
12-25380317-A-G |
c.141T>C |
p.D47= |
Synonymous |
3/5 |
- |
2 |
12-25380317-A-T |
c.141T>A |
p.D47E |
Missense |
3/5 |
- |
2 |
12-25380317-ATC-CTT |
c.139_141delinsAAG |
p.D47K |
Missense |
3/5 |
- |
1 |
12-25380318-T-A |
c.140A>T |
p.D47V |
Missense |
3/5 |
- |
1 |
12-25380318-T-C |
c.140A>G |
p.D47G |
Missense |
3/5 |
- |
3 |
12-25380318-TC-AA |
c.139_140delinsTT |
p.D47F |
Missense |
3/5 |
- |
1 |
12-25380318-TC-GG |
c.139_140delinsCC |
p.D47P |
Missense |
3/5 |
- |
1 |
12-25380318-T-G |
c.140A>C |
p.D47A |
Missense |
3/5 |
- |
5 |
12-25380319-C-A |
c.139G>T |
p.D47Y |
Missense |
3/5 |
- |
5 |
12-25380319-C-G |
c.139G>C |
p.D47H |
Missense |
3/5 |
- |
2 |
12-25380319-C-T |
c.139G>A |
p.D47N |
Missense |
3/5 |
- |
4 |
12-25380320-A-C |
c.138T>G |
p.I46M |
Missense |
3/5 |
- |
2 |
12-25380320-A-G |
c.138T>C |
p.I46= |
Synonymous |
3/5 |
- |
3 |
12-25380320-A-T |
c.138T>A |
p.I46= |
Synonymous |
3/5 |
- |
2 |
12-25380321-A-G |
c.137T>C |
p.I46T |
Missense |
3/5 |
- |
1 |
12-25380322-T-A |
c.136A>T |
p.I46F |
Missense |
3/5 |
- |
1 |
12-25380322-T-C |
c.136A>G |
p.I46V |
Missense |
3/5 |
- |
3 |
12-25380321-AT-A |
c.136del |
p.I46Lfs*22 |
Frameshift |
3/5 |
- |
1 |
12-25380323-T-A |
c.135A>T |
p.V45= |
Synonymous |
3/5 |
- |
3 |
12-25380323-TAC-CAT |
c.133_135delinsATG |
p.V45M |
Missense |
3/5 |
- |
1 |
12-25380323-T-C |
c.135A>G |
p.V45= |
Synonymous |
3/5 |
- |
3 |
12-25380323-T-G |
c.135A>C |
p.V45= |
Synonymous |
3/5 |
- |
3 |
12-25380324-A-C |
c.134T>G |
p.V45G |
Missense |
3/5 |
- |
1 |
12-25380324-A-G |
c.134T>C |
p.V45A |
Missense |
3/5 |
- |
2 |
12-25380324-A-T |
c.134T>A |
p.V45E |
Missense |
3/5 |
- |
5 |
12-25380325-AC-A |
c.133del |
p.V45* |
Frameshift |
3/5 |
- |
1 |
12-25380325-C-A |
c.133G>T |
p.V45L |
Missense |
3/5 |
- |
2 |
12-25380325-C-G |
c.133G>C |
p.V45L |
Missense |
3/5 |
- |
1 |
12-25380325-C-T |
c.133G>A |
p.V45I |
Missense |
3/5 |
- |
7 |
12-25380326-T-A |
c.132A>T |
p.V44= |
Synonymous |
3/5 |
- |
1 |
12-25380326-TAC-AAA |
c.130_132delinsTTT |
p.V44F |
Missense |
3/5 |
- |
1 |
12-25380326-TAC-CAT |
c.130_132delinsATG |
p.V44M |
Missense |
3/5 |
- |
1 |
12-25380326-T-C |
c.132A>G |
p.V44= |
Synonymous |
3/5 |
- |
1 |
12-25380326-T-G |
c.132A>C |
p.V44= |
Synonymous |
3/5 |
- |
1 |
12-25380327-A-G |
c.131T>C |
p.V44A |
Missense |
3/5 |
- |
3 |
12-25380327-A-T |
c.131T>A |
p.V44E |
Missense |
3/5 |
- |
2 |
12-25380328-C-A |
c.130G>T |
p.V44L |
Missense |
3/5 |
- |
2 |
12-25380328-C-G |
c.130G>C |
p.V44L |
Missense |
3/5 |
- |
1 |
12-25380328-C-T |
c.130G>A |
p.V44I |
Missense |
3/5 |
- |
4 |
12-25380329-T-A |
c.129A>T |
p.Q43H |
Missense |
3/5 |
- |
1 |
12-25380329-T-C |
c.129A>G |
p.Q43= |
Synonymous |
3/5 |
- |
1 |
12-25380329-T-G |
c.129A>C |
p.Q43H |
Missense |
3/5 |
- |
1 |
12-25380329-TTG-ACA |
c.127_129delinsTGT |
p.Q43C |
Missense |
3/5 |
- |
1 |
12-25380330-T-C |
c.128A>G |
p.Q43R |
Missense |
3/5 |
- |
2 |
12-25380330-TG-GC |
c.127_128delinsGC |
p.Q43A |
Missense |
3/5 |
- |
2 |
12-25380331-G-A |
c.127C>T |
p.Q43* |
Nonsense |
3/5 |
- |
5 |
12-25380331-G-C |
c.127C>G |
p.Q43E |
Missense |
3/5 |
- |
1 |
12-25380332-C-A |
c.126G>T |
p.K42N |
Missense |
3/5 |
- |
1 |
12-25380332-C-T |
c.126G>A |
p.K42= |
Synonymous |
3/5 |
- |
11 |
12-25380332-CT-GA |
c.125_126delinsTC |
p.K42I |
Missense |
3/5 |
- |
2 |
12-25380332-CTT-GTC |
c.124_126delinsGAC |
p.K42D |
Missense |
3/5 |
- |
1 |
12-25380333-T-C |
c.125A>G |
p.K42R |
Missense |
3/5 |
- |
3 |
12-25380333-TT-GC |
c.124_125delinsGC |
p.K42A |
Missense |
3/5 |
- |
1 |
12-25380332-C-CT |
c.125dup |
p.Q43Afs*5 |
Frameshift |
3/5 |
- |
1 |
12-25380334-T-C |
c.124A>G |
p.K42E |
Missense |
3/5 |
- |
1 |
12-25380334-T-TGCA |
c.123_124insTGC |
p.R41_K42insC |
InFrameInsertion |
3/5 |
- |
1 |
12-25380333-TTCC-T |
c.122_124del |
p.R41del |
InFrameDeletion |
3/5 |
- |
1 |
12-25380335-C-A |
c.123G>T |
p.R41S |
Missense |
3/5 |
- |
4 |
12-25380335-CC-GA |
c.122_123delinsTC |
p.R41I |
Missense |
3/5 |
- |
1 |
12-25380335-C-G |
c.123G>C |
p.R41S |
Missense |
3/5 |
- |
1 |
12-25380335-C-T |
c.123G>A |
p.R41= |
Synonymous |
3/5 |
- |
2 |
12-25380337-T-G |
c.121A>C |
p.R41= |
Synonymous |
3/5 |
- |
2 |
12-25380336-C-A |
c.122G>T |
p.R41M |
Missense |
3/5 |
- |
2 |
12-25380336-C-T |
c.122G>A |
p.R41K |
Missense |
3/5 |
- |
5 |
12-25380336-CT-GC |
c.121_122delinsGC |
p.R41A |
Missense |
3/5 |
- |
2 |
12-25380336-CT-TC |
c.121_122delinsGA |
p.R41E |
Missense |
3/5 |
- |
2 |
12-25380336-CT-TG |
c.121_122delinsCA |
p.R41Q |
Missense |
3/5 |
- |
1 |
12-25380337-CT-C |
c.121del |
p.R41Gfs*4 |
Frameshift |
3/5 |
- |
1 |
12-25380337-T-A |
c.121A>T |
p.R41W |
Missense |
3/5 |
- |
1 |
12-25380337-T-C |
c.121A>G |
p.R41G |
Missense |
3/5 |
- |
6 |
12-25380338-G-A |
c.120C>T |
p.Y40= |
Synonymous |
3/5 |
- |
4 |
12-25380338-G-T |
c.120C>A |
p.Y40* |
Nonsense |
3/5 |
- |
1 |
12-25380339-GTAGGAATC-G |
c.112_119del |
p.D38Qfs*7 |
SpliceAcceptorDeletion |
3/5 |
- |
1 |
12-25380339-T-A |
c.119A>T |
p.Y40F |
Missense |
3/5 |
- |
2 |
12-25380339-TA-GC |
c.118_119delinsGC |
p.Y40A |
Missense |
3/5 |
- |
15 |
12-25380339-T-C |
c.119A>G |
p.Y40C |
Missense |
3/5 |
- |
18 |
12-25380339-T-G |
c.119A>C |
p.Y40S |
Missense |
3/5 |
- |
1 |
12-25380340-A-C |
c.118T>G |
p.Y40D |
Missense |
3/5 |
- |
1 |
12-25380340-A-G |
c.118T>C |
p.Y40H |
Missense |
3/5 |
- |
3 |
12-25380340-A-T |
c.118T>A |
p.Y40N |
Missense |
3/5 |
- |
1 |
12-25380341-G-A |
c.117C>T |
p.S39= |
Synonymous |
3/5 |
- |
3 |
12-25380341-G-C |
c.117C>G |
p.S39= |
Synonymous |
3/5 |
- |
2 |
12-25380341-GGA-CTT |
c.115_117delinsAAG |
p.S39K |
Missense |
3/5 |
- |
1 |
12-25380341-G-T |
c.117C>A |
p.S39= |
Synonymous |
3/5 |
- |
3 |
12-25380342-G-A |
c.116C>T |
p.S39F |
Missense |
3/5 |
- |
4 |
12-25380342-G-C |
c.116C>G |
p.S39C |
Missense |
3/5 |
- |
3 |
12-25380342-G-T |
c.116C>A |
p.S39Y |
Missense |
3/5 |
- |
3 |
12-25380343-A-G |
c.115T>C |
p.S39P |
Missense |
3/5 |
- |
1 |
12-25380342-GA-G |
c.115del |
p.S39Pfs*6 |
Frameshift |
3/5 |
- |
1 |
12-25380344-A-C |
c.114T>G |
p.D38E |
Missense |
3/5 |
- |
6 |
12-25380344-A-G |
c.114T>C |
p.D38= |
Synonymous |
3/5 |
- |
11 |
12-25380344-A-T |
c.114T>A |
p.D38E |
Missense |
3/5 |
- |
6 |
12-25380344-ATC-CTT |
c.112_114delinsAAG |
p.D38K |
Missense |
3/5 |
- |
1 |
12-25380345-T-A |
c.113A>T |
p.D38V |
Missense |
3/5 |
- |
1 |
12-25380345-T-C |
c.113A>G |
p.D38G |
Missense |
3/5 |
- |
3 |
12-25380345-T-G |
c.113A>C |
p.D38A |
Missense |
3/5 |
- |
6 |
12-25380346-C-A |
c.112G>T |
p.D38Y |
Missense |
3/5 |
- |
3 |
12-25380346-C-T |
c.112G>A |
p.D38N |
Missense |
3/5 |
- |
4 |
12-25380351-G-A |
c.112-5C>T |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25380351-G-C |
c.112-5C>G |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25380608-C-A |
c.112-262G>T |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25380608-C-G |
c.112-262G>C |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25380840-G-A |
c.112-494C>T |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25380927-C-G |
c.112-581G>C |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25380927-C-T |
c.112-581G>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25381346-G-C |
c.112-1000C>G |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25381353-C-A |
c.112-1007G>T |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25381353-C-G |
c.112-1007G>C |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25381447-A-C |
c.112-1101T>G |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25381819-C-A |
c.112-1473G>T |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25381819-C-T |
c.112-1473G>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25381823-T-A |
c.112-1477A>T |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25381849-C-T |
c.112-1503G>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25381862-G-A |
c.112-1516C>T |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25381862-G-T |
c.112-1516C>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25381987-G-A |
c.112-1641C>T |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25381999-C-G |
c.112-1653G>C |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25382023-A-T |
c.112-1677T>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25382070-A-T |
c.112-1724T>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25382186-T-G |
c.112-1840A>C |
- |
IntronicSNV |
- |
2/4 |
5 |
12-25382542-C-T |
c.112-2196G>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25382853-C-A |
c.112-2507G>T |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25382864-G-A |
c.112-2518C>T |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25382880-G-GT |
c.112-2535dup |
- |
IntronicInsertion |
- |
2/4 |
1 |
12-25383194-C-T |
c.112-2848G>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25383509-C-T |
c.112-3163G>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25383813-A-G |
c.112-3467T>C |
- |
IntronicSNV |
- |
2/4 |
2 |
12-25384168-T-C |
c.112-3822A>G |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25384658-T-A |
c.112-4312A>T |
- |
IntronicSNV |
- |
2/4 |
3 |
12-25384658-T-C |
c.112-4312A>G |
- |
IntronicSNV |
- |
2/4 |
3 |
12-25385428-C-T |
c.112-5082G>A |
- |
IntronicSNV |
- |
2/4 |
2 |
12-25385904-T-C |
c.112-5558A>G |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25385904-T-G |
c.112-5558A>C |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25385910-T-C |
c.112-5564A>G |
- |
IntronicSNV |
- |
2/4 |
2 |
12-25386940-C-T |
c.112-6594G>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25388264-C-A |
c.112-7918G>T |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25388290-G-T |
c.112-7944C>A |
- |
IntronicSNV |
- |
2/4 |
4 |
12-25388316-G-C |
c.112-7970C>G |
- |
IntronicSNV |
- |
2/4 |
4 |
12-25388316-G-T |
c.112-7970C>A |
- |
IntronicSNV |
- |
2/4 |
4 |
12-25388771-G-C |
c.112-8425C>G |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25389220-A-G |
c.112-8874T>C |
- |
IntronicSNV |
- |
2/4 |
2 |
12-25389507-A-C |
c.111+8701T>G |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25389507-A-G |
c.111+8701T>C |
- |
IntronicSNV |
- |
2/4 |
3 |
12-25389567-T-G |
c.111+8641A>C |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25389605-G-A |
c.111+8603C>T |
- |
IntronicSNV |
- |
2/4 |
2 |
12-25391064-A-C |
c.111+7144T>G |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25391239-G-C |
c.111+6969C>G |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25391456-C-T |
c.111+6752G>A |
- |
IntronicSNV |
- |
2/4 |
2 |
12-25392282-C-T |
c.111+5926G>A |
- |
IntronicSNV |
- |
2/4 |
3 |
12-25392443-C-T |
c.111+5765G>A |
- |
IntronicSNV |
- |
2/4 |
3 |
12-25393013-G-C |
c.111+5195C>G |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25393043-A-G |
c.111+5165T>C |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25393059-TAA-T |
c.111+5148_111+5149del |
- |
IntronicDeletion |
- |
2/4 |
1 |
12-25393066-C-T |
c.111+5142G>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25393071-A-G |
c.111+5137T>C |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25393079-C-T |
c.111+5129G>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25393523-T-C |
c.111+4685A>G |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25393865-A-C |
c.111+4343T>G |
- |
IntronicSNV |
- |
2/4 |
3 |
12-25394779-C-T |
c.111+3429G>A |
- |
IntronicSNV |
- |
2/4 |
4 |
12-25396035-C-T |
c.111+2173G>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25396576-C-T |
c.111+1632G>A |
- |
IntronicSNV |
- |
2/4 |
3 |
12-25396730-G-T |
c.111+1478C>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25397032-G-A |
c.111+1176C>T |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25397555-T-TA |
c.111+652dup |
- |
IntronicInsertion |
- |
2/4 |
1 |
12-25397702-C-T |
c.111+506G>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25397964-CTGAAATACACTTCCAATCAAAATGCACAGAGAGTGAA-C |
c.111+208_111+244del |
- |
IntronicDeletion |
- |
2/4 |
1 |
12-25398018-T-A |
c.111+190A>T |
- |
IntronicSNV |
- |
2/4 |
2 |
12-25398018-T-C |
c.111+190A>G |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25398100-C-T |
c.111+108G>A |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25398207-C-A |
c.111+1G>T |
- |
IntronicSNV |
- |
2/4 |
1 |
12-25398207-C-T |
c.111+1G>A |
- |
IntronicSNV |
- |
2/4 |
2 |
12-25398208-C-A |
c.111G>T |
p.E37D |
Missense |
2/5 |
- |
4 |
12-25398208-C-G |
c.111G>C |
p.E37D |
Missense |
2/5 |
- |
3 |
12-25398208-C-T |
c.111G>A |
p.E37= |
Synonymous |
2/5 |
- |
2 |
12-25398209-T-C |
c.110A>G |
p.E37G |
Missense |
2/5 |
- |
14 |
12-25398209-TC-CA |
c.109_110delinsTG |
p.E37W |
Missense |
2/5 |
- |
1 |
12-25398209-T-G |
c.110A>C |
p.E37A |
Missense |
2/5 |
- |
2 |
12-25398210-C-A |
c.109G>T |
p.E37* |
Nonsense |
2/5 |
- |
2 |
12-25398210-C-G |
c.109G>C |
p.E37Q |
Missense |
2/5 |
- |
1 |
12-25398210-C-T |
c.109G>A |
p.E37K |
Missense |
2/5 |
- |
12 |
12-25398210-TC-T |
c.109del |
p.E37Rfs*8 |
Frameshift |
2/5 |
- |
1 |
12-25398211-TA-GT |
c.107_108delinsAC |
p.I36N |
Missense |
2/5 |
- |
1 |
12-25398211-TAT-AAA |
c.106_108delinsTTT |
p.I36F |
Missense |
2/5 |
- |
1 |
12-25398211-T-C |
c.108A>G |
p.I36M |
Missense |
2/5 |
- |
39 |
12-25398212-A-C |
c.107T>G |
p.I36R |
Missense |
2/5 |
- |
1 |
12-25398212-A-T |
c.107T>A |
p.I36K |
Missense |
2/5 |
- |
1 |
12-25398212-AT-GC |
c.106_107delinsGC |
p.I36A |
Missense |
2/5 |
- |
3 |
12-25398213-T-A |
c.106A>T |
p.I36L |
Missense |
2/5 |
- |
6 |
12-25398213-T-C |
c.106A>G |
p.I36V |
Missense |
2/5 |
- |
2 |
12-25398213-T-G |
c.106A>C |
p.I36L |
Missense |
2/5 |
- |
2 |
12-25398214-T-A |
c.105A>T |
p.T35= |
Synonymous |
2/5 |
- |
2 |
12-25398214-T-C |
c.105A>G |
p.T35= |
Synonymous |
2/5 |
- |
3 |
12-25398214-T-G |
c.105A>C |
p.T35= |
Synonymous |
2/5 |
- |
4 |
12-25398214-TG-CA |
c.104_105inv |
p.T35M |
Missense |
2/5 |
- |
1 |
12-25398214-TG-GT |
c.104_105delinsAC |
p.T35N |
Missense |
2/5 |
- |
1 |
12-25398215-G-A |
c.104C>T |
p.T35I |
Missense |
2/5 |
- |
11 |
12-25398215-G-T |
c.104C>A |
p.T35K |
Missense |
2/5 |
- |
1 |
12-25398215-GT-CC |
c.103_104delinsGG |
p.T35G |
Missense |
2/5 |
- |
1 |
12-25398215-TG-T |
c.104del |
p.T35Kfs*2 |
Frameshift |
2/5 |
- |
1 |
12-25398216-T-A |
c.103A>T |
p.T35S |
Missense |
2/5 |
- |
27 |
12-25398216-T-C |
c.103A>G |
p.T35A |
Missense |
2/5 |
- |
14 |
12-25398216-T-G |
c.103A>C |
p.T35P |
Missense |
2/5 |
- |
1 |
12-25398217-T-A |
c.102A>T |
p.P34= |
Synonymous |
2/5 |
- |
4 |
12-25398217-T-C |
c.102A>G |
p.P34= |
Synonymous |
2/5 |
- |
4 |
12-25398217-T-G |
c.102A>C |
p.P34= |
Synonymous |
2/5 |
- |
3 |
12-25398217-TG-AT |
c.101_102delinsAT |
p.P34H |
Missense |
2/5 |
- |
1 |
12-25398218-G-A |
c.101C>T |
p.P34L |
Missense |
2/5 |
- |
43 |
12-25398218-G-C |
c.101C>G |
p.P34R |
Missense |
2/5 |
- |
47 |
12-25398218-GG-CC |
c.100_101inv |
p.P34G |
Missense |
2/5 |
- |
1 |
12-25398218-G-T |
c.101C>A |
p.P34Q |
Missense |
2/5 |
- |
12 |
12-25398219-G-A |
c.100C>T |
p.P34S |
Missense |
2/5 |
- |
7 |
12-25398219-G-C |
c.100C>G |
p.P34A |
Missense |
2/5 |
- |
2 |
12-25398219-G-T |
c.100C>A |
p.P34T |
Missense |
2/5 |
- |
2 |
12-25398220-A-C |
c.99T>G |
p.D33E |
Missense |
2/5 |
- |
58 |
12-25398220-A-G |
c.99T>C |
p.D33= |
Synonymous |
2/5 |
- |
4 |
12-25398220-A-T |
c.99T>A |
p.D33E |
Missense |
2/5 |
- |
59 |
12-25398220-ATC-CTT |
c.97_99delinsAAG |
p.D33K |
Missense |
2/5 |
- |
1 |
12-25398221-T-C |
c.98A>G |
p.D33G |
Missense |
2/5 |
- |
5 |
12-25398221-TC-CA |
c.97_98delinsTG |
p.D33C |
Missense |
2/5 |
- |
1 |
12-25398221-T-G |
c.98A>C |
p.D33A |
Missense |
2/5 |
- |
2 |
12-25398222-C-A |
c.97G>T |
p.D33Y |
Missense |
2/5 |
- |
2 |
12-25398222-C-G |
c.97G>C |
p.D33H |
Missense |
2/5 |
- |
2 |
12-25398222-C-T |
c.97G>A |
p.D33N |
Missense |
2/5 |
- |
6 |
12-25398223-A-G |
c.96T>C |
p.Y32= |
Synonymous |
2/5 |
- |
1 |
12-25398223-AT-CC |
c.95_96delinsGG |
p.Y32W |
Missense |
2/5 |
- |
1 |
12-25398224-T-A |
c.95A>T |
p.Y32F |
Missense |
2/5 |
- |
8 |
12-25398224-TA-GC |
c.94_95delinsGC |
p.Y32A |
Missense |
2/5 |
- |
1 |
12-25398224-T-C |
c.95A>G |
p.Y32C |
Missense |
2/5 |
- |
3 |
12-25398224-T-G |
c.95A>C |
p.Y32S |
Missense |
2/5 |
- |
5 |
12-25398225-A-G |
c.94T>C |
p.Y32H |
Missense |
2/5 |
- |
2 |
12-25398226-T-A |
c.93A>T |
p.E31D |
Missense |
2/5 |
- |
6 |
12-25398226-T-C |
c.93A>G |
p.E31= |
Synonymous |
2/5 |
- |
4 |
12-25398226-T-G |
c.93A>C |
p.E31D |
Missense |
2/5 |
- |
5 |
12-25398226-TTC-ATA |
c.91_93delinsTAT |
p.E31Y |
Missense |
2/5 |
- |
1 |
12-25398226-TTC-CCA |
c.91_93delinsTGG |
p.E31W |
Missense |
2/5 |
- |
1 |
12-25398227-T-C |
c.92A>G |
p.E31G |
Missense |
2/5 |
- |
1 |
12-25398227-TC-CT |
c.91_92delinsAG |
p.E31R |
Missense |
2/5 |
- |
1 |
12-25398227-TC-GG |
c.91_92delinsCC |
p.E31P |
Missense |
2/5 |
- |
1 |
12-25398228-C-A |
c.91G>T |
p.E31* |
Nonsense |
2/5 |
- |
3 |
12-25398228-C-G |
c.91G>C |
p.E31Q |
Missense |
2/5 |
- |
9 |
12-25398228-C-T |
c.91G>A |
p.E31K |
Missense |
2/5 |
- |
23 |
12-25398229-G-A |
c.90C>T |
p.D30= |
Synonymous |
2/5 |
- |
8 |
12-25398229-G-C |
c.90C>G |
p.D30E |
Missense |
2/5 |
- |
2 |
12-25398229-G-T |
c.90C>A |
p.D30E |
Missense |
2/5 |
- |
3 |
12-25398230-T-C |
c.89A>G |
p.D30G |
Missense |
2/5 |
- |
2 |
12-25398230-TC-CA |
c.88_89delinsTG |
p.D30C |
Missense |
2/5 |
- |
2 |
12-25398230-TC-CG |
c.88_89delinsCG |
p.D30R |
Missense |
2/5 |
- |
1 |
12-25398230-T-G |
c.89A>C |
p.D30A |
Missense |
2/5 |
- |
3 |
12-25398231-C-A |
c.88G>T |
p.D30Y |
Missense |
2/5 |
- |
2 |
12-25398231-C-G |
c.88G>C |
p.D30H |
Missense |
2/5 |
- |
1 |
12-25398231-C-T |
c.88G>A |
p.D30N |
Missense |
2/5 |
- |
5 |
12-25398232-C-A |
c.87G>T |
p.V29= |
Synonymous |
2/5 |
- |
3 |
12-25398232-C-G |
c.87G>C |
p.V29= |
Synonymous |
2/5 |
- |
2 |
12-25398232-C-T |
c.87G>A |
p.V29= |
Synonymous |
2/5 |
- |
3 |
12-25398233-A-C |
c.86T>G |
p.V29G |
Missense |
2/5 |
- |
2 |
12-25398233-A-G |
c.86T>C |
p.V29A |
Missense |
2/5 |
- |
2 |
12-25398233-A-T |
c.86T>A |
p.V29E |
Missense |
2/5 |
- |
1 |
12-25398234-C-A |
c.85G>T |
p.V29L |
Missense |
2/5 |
- |
1 |
12-25398234-C-T |
c.85G>A |
p.V29M |
Missense |
2/5 |
- |
4 |
12-25398235-A-AC |
c.83_84insG |
p.F28Lfs*6 |
Frameshift |
2/5 |
- |
1 |
12-25398235-A-G |
c.84T>C |
p.F28= |
Synonymous |
2/5 |
- |
2 |
12-25398236-AA-TC |
c.82_83delinsGA |
p.F28D |
Missense |
2/5 |
- |
1 |
12-25398236-A-C |
c.83T>G |
p.F28C |
Missense |
2/5 |
- |
2 |
12-25398236-A-G |
c.83T>C |
p.F28S |
Missense |
2/5 |
- |
3 |
12-25398235-A-C |
c.84T>G |
p.F28L |
Missense |
2/5 |
- |
13 |
12-25398235-A-T |
c.84T>A |
p.F28L |
Missense |
2/5 |
- |
14 |
12-25398237-A-G |
c.82T>C |
p.F28L |
Missense |
2/5 |
- |
13 |
12-25398234-CA-C |
c.84del |
p.F28Lfs*9 |
Frameshift |
2/5 |
- |
1 |
12-25398234-C-CA |
c.84dup |
p.V29Cfs*5 |
Frameshift |
2/5 |
- |
1 |
12-25398238-A-C |
c.81T>G |
p.H27Q |
Missense |
2/5 |
- |
1 |
12-25398238-A-G |
c.81T>C |
p.H27= |
Synonymous |
2/5 |
- |
7 |
12-25398238-A-T |
c.81T>A |
p.H27Q |
Missense |
2/5 |
- |
1 |
12-25398239-T-A |
c.80A>T |
p.H27L |
Missense |
2/5 |
- |
2 |
12-25398239-T-C |
c.80A>G |
p.H27R |
Missense |
2/5 |
- |
2 |
12-25398239-T-G |
c.80A>C |
p.H27P |
Missense |
2/5 |
- |
1 |
12-25398239-TG-CC |
c.79_80delinsGG |
p.H27G |
Missense |
2/5 |
- |
1 |
12-25398239-TG-GC |
c.79_80delinsGC |
p.H27A |
Missense |
2/5 |
- |
1 |
12-25398240-G-A |
c.79C>T |
p.H27Y |
Missense |
2/5 |
- |
5 |
12-25398240-G-T |
c.79C>A |
p.H27N |
Missense |
2/5 |
- |
1 |
12-25398241-A-C |
c.78T>G |
p.N26K |
Missense |
2/5 |
- |
3 |
12-25398241-A-G |
c.78T>C |
p.N26= |
Synonymous |
2/5 |
- |
3 |
12-25398241-A-T |
c.78T>A |
p.N26K |
Missense |
2/5 |
- |
2 |
12-25398241-AT-GTTCC |
c.77_78delinsGGAAC |
p.Q25_N26insR |
MultiAAMissense |
2/5 |
- |
1 |
12-25398242-T-A |
c.77A>T |
p.N26I |
Missense |
2/5 |
- |
4 |
12-25398242-T-C |
c.77A>G |
p.N26S |
Missense |
2/5 |
- |
5 |
12-25398242-T-G |
c.77A>C |
p.N26T |
Missense |
2/5 |
- |
1 |
12-25398242-TT-CC |
c.76_77delinsGG |
p.N26G |
Missense |
2/5 |
- |
2 |
12-25398242-T-TGCC |
c.76_77insGGC |
p.N26delinsRH |
MultiAAMissense |
2/5 |
- |
1 |
12-25398241-AT-A |
c.77del |
p.N26Ifs*11 |
Frameshift |
2/5 |
- |
1 |
12-25398243-T-A |
c.76A>T |
p.N26Y |
Missense |
2/5 |
- |
4 |
12-25398243-T-C |
c.76A>G |
p.N26D |
Missense |
2/5 |
- |
3 |
12-25398244-C-A |
c.75G>T |
p.Q25H |
Missense |
2/5 |
- |
7 |
12-25398244-C-G |
c.75G>C |
p.Q25H |
Missense |
2/5 |
- |
6 |
12-25398244-C-T |
c.75G>A |
p.Q25= |
Synonymous |
2/5 |
- |
1 |
12-25398245-CT-C |
c.74del |
p.Q25Rfs*12 |
Frameshift |
2/5 |
- |
1 |
12-25398245-T-A |
c.74A>T |
p.Q25L |
Missense |
2/5 |
- |
1 |
12-25398245-T-C |
c.74A>G |
p.Q25R |
Missense |
2/5 |
- |
3 |
12-25398245-T-G |
c.74A>C |
p.Q25P |
Missense |
2/5 |
- |
2 |
12-25398245-TG-GC |
c.73_74delinsGC |
p.Q25A |
Missense |
2/5 |
- |
4 |
12-25398246-G-A |
c.73C>T |
p.Q25* |
Nonsense |
2/5 |
- |
5 |
12-25398246-G-T |
c.73C>A |
p.Q25K |
Missense |
2/5 |
- |
1 |
12-25398247-A-C |
c.72T>G |
p.I24M |
Missense |
2/5 |
- |
1 |
12-25398247-A-G |
c.72T>C |
p.I24= |
Synonymous |
2/5 |
- |
1 |
12-25398247-A-T |
c.72T>A |
p.I24= |
Synonymous |
2/5 |
- |
1 |
12-25398248-A-C |
c.71T>G |
p.I24S |
Missense |
2/5 |
- |
1 |
12-25398248-A-G |
c.71T>C |
p.I24T |
Missense |
2/5 |
- |
2 |
12-25398248-A-T |
c.71T>A |
p.I24N |
Missense |
2/5 |
- |
26 |
12-25398249-T-A |
c.70A>T |
p.I24F |
Missense |
2/5 |
- |
1 |
12-25398249-T-C |
c.70A>G |
p.I24V |
Missense |
2/5 |
- |
2 |
12-25398249-T-G |
c.70A>C |
p.I24L |
Missense |
2/5 |
- |
1 |
12-25398250-T-A |
c.69A>T |
p.L23= |
Synonymous |
2/5 |
- |
3 |
12-25398250-T-C |
c.69A>G |
p.L23= |
Synonymous |
2/5 |
- |
5 |
12-25398250-T-G |
c.69A>C |
p.L23= |
Synonymous |
2/5 |
- |
3 |
12-25398252-G-A |
c.67C>T |
p.L23= |
Synonymous |
2/5 |
- |
3 |
12-25398251-A-C |
c.68T>G |
p.L23R |
Missense |
2/5 |
- |
17 |
12-25398251-A-G |
c.68T>C |
p.L23P |
Missense |
2/5 |
- |
1 |
12-25398251-AG-GC |
c.67_68delinsGC |
p.L23A |
Missense |
2/5 |
- |
2 |
12-25398251-A-T |
c.68T>A |
p.L23Q |
Missense |
2/5 |
- |
1 |
12-25398252-G-C |
c.67C>G |
p.L23V |
Missense |
2/5 |
- |
1 |
12-25398252-G-T |
c.67C>A |
p.L23I |
Missense |
2/5 |
- |
2 |
12-25398253-C-A |
c.66G>T |
p.Q22H |
Missense |
2/5 |
- |
3 |
12-25398253-C-G |
c.66G>C |
p.Q22H |
Missense |
2/5 |
- |
2 |
12-25398253-C-T |
c.66G>A |
p.Q22= |
Synonymous |
2/5 |
- |
5 |
12-25398254-T-A |
c.65A>T |
p.Q22L |
Missense |
2/5 |
- |
7 |
12-25398254-T-C |
c.65A>G |
p.Q22R |
Missense |
2/5 |
- |
37 |
12-25398254-T-G |
c.65A>C |
p.Q22P |
Missense |
2/5 |
- |
1 |
12-25398254-TG-GC |
c.64_65delinsGC |
p.Q22A |
Missense |
2/5 |
- |
1 |
12-25398255-G-A |
c.64C>T |
p.Q22* |
Nonsense |
2/5 |
- |
8 |
12-25398255-G-C |
c.64C>G |
p.Q22E |
Missense |
2/5 |
- |
22 |
12-25398255-G-GA |
c.63_64insT |
p.Q22Sfs*12 |
Frameshift |
2/5 |
- |
1 |
12-25398255-G-T |
c.64C>A |
p.Q22K |
Missense |
2/5 |
- |
147 |
12-25398256-TA-GC |
c.62_63delinsGC |
p.I21S |
Missense |
2/5 |
- |
2 |
12-25398256-T-C |
c.63A>G |
p.I21M |
Missense |
2/5 |
- |
3 |
12-25398257-A-C |
c.62T>G |
p.I21R |
Missense |
2/5 |
- |
11 |
12-25398257-A-G |
c.62T>C |
p.I21T |
Missense |
2/5 |
- |
2 |
12-25398257-AT-GC |
c.61_62delinsGC |
p.I21A |
Missense |
2/5 |
- |
1 |
12-25398258-T-A |
c.61A>T |
p.I21L |
Missense |
2/5 |
- |
1 |
12-25398258-T-C |
c.61A>G |
p.I21V |
Missense |
2/5 |
- |
1 |
12-25398258-T-G |
c.61A>C |
p.I21L |
Missense |
2/5 |
- |
1 |
12-25398259-C-A |
c.60G>T |
p.T20= |
Synonymous |
2/5 |
- |
4 |
12-25398259-C-G |
c.60G>C |
p.T20= |
Synonymous |
2/5 |
- |
2 |
12-25398259-CGT-GCTAAA |
c.58_60delinsTTTAGC |
p.T20delinsFS |
MultiAAMissense |
2/5 |
- |
1 |
12-25398259-C-T |
c.60G>A |
p.T20= |
Synonymous |
2/5 |
- |
4 |
12-25398260-G-A |
c.59C>T |
p.T20M |
Missense |
2/5 |
- |
17 |
12-25398260-G-C |
c.59C>G |
p.T20R |
Missense |
2/5 |
- |
13 |
12-25398260-G-T |
c.59C>A |
p.T20K |
Missense |
2/5 |
- |
3 |
12-25398260-GT-AC |
c.58_59inv |
p.T20V |
Missense |
2/5 |
- |
1 |
12-25398261-T-A |
c.58A>T |
p.T20S |
Missense |
2/5 |
- |
2 |
12-25398261-T-C |
c.58A>G |
p.T20A |
Missense |
2/5 |
- |
10 |
12-25398262-C-A |
c.57G>T |
p.L19F |
Missense |
2/5 |
- |
136 |
12-25398262-C-G |
c.57G>C |
p.L19F |
Missense |
2/5 |
- |
137 |
12-25398263-AA-GC |
c.55_56delinsGC |
p.L19A |
Missense |
2/5 |
- |
1 |
12-25398263-AA-GG |
c.55_56delinsCC |
p.L19P |
Missense |
2/5 |
- |
1 |
12-25398263-A-G |
c.56T>C |
p.L19S |
Missense |
2/5 |
- |
3 |
12-25398262-C-CA |
c.56dup |
p.L19Ffs*15 |
Frameshift |
2/5 |
- |
1 |
12-25398262-C-T |
c.57G>A |
p.L19= |
Synonymous |
2/5 |
- |
2 |
12-25398264-A-G |
c.55T>C |
p.L19= |
Synonymous |
2/5 |
- |
2 |
12-25398265-AGGC-A |
c.52_54del |
p.A18del |
InFrameDeletion |
2/5 |
- |
1 |
12-25398265-G-A |
c.54C>T |
p.A18= |
Synonymous |
2/5 |
- |
3 |
12-25398265-G-C |
c.54C>G |
p.A18= |
Synonymous |
2/5 |
- |
3 |
12-25398265-GGC-CAT |
c.52_54delinsATG |
p.A18M |
Missense |
2/5 |
- |
1 |
12-25398265-GG-CT |
c.53_54delinsAG |
p.A18E |
Missense |
2/5 |
- |
1 |
12-25398265-GGC-TTG |
c.52_54delinsCAA |
p.A18Q |
Missense |
2/5 |
- |
1 |
12-25398265-G-T |
c.54C>A |
p.A18= |
Synonymous |
2/5 |
- |
4 |
12-25398266-G-A |
c.53C>T |
p.A18V |
Missense |
2/5 |
- |
12 |
12-25398266-G-C |
c.53C>G |
p.A18G |
Missense |
2/5 |
- |
3 |
12-25398266-GC-AA |
c.52_53delinsTT |
p.A18F |
Missense |
2/5 |
- |
3 |
12-25398266-GC-AG |
c.52_53delinsCT |
p.A18L |
Missense |
2/5 |
- |
2 |
12-25398266-GC-CA |
c.52_53delinsTG |
p.A18C |
Missense |
2/5 |
- |
2 |
12-25398266-GC-CG |
c.52_53delinsCG |
p.A18R |
Missense |
2/5 |
- |
1 |
12-25398266-GC-TA |
c.52_53delinsTA |
p.A18Y |
Missense |
2/5 |
- |
4 |
12-25398266-GC-TT |
c.52_53delinsAA |
p.A18N |
Missense |
2/5 |
- |
1 |
12-25398266-G-T |
c.53C>A |
p.A18D |
Missense |
2/5 |
- |
70 |
12-25398267-C-A |
c.52G>T |
p.A18S |
Missense |
2/5 |
- |
5 |
12-25398267-C-G |
c.52G>C |
p.A18P |
Missense |
2/5 |
- |
4 |
12-25398267-C-T |
c.52G>A |
p.A18T |
Missense |
2/5 |
- |
12 |
12-25398268-A-C |
c.51T>G |
p.S17R |
Missense |
2/5 |
- |
2 |
12-25398268-ACT-CTC |
c.49_51delinsGAG |
p.S17E |
Missense |
2/5 |
- |
5 |
12-25398268-A-G |
c.51T>C |
p.S17= |
Synonymous |
2/5 |
- |
2 |
12-25398268-A-T |
c.51T>A |
p.S17R |
Missense |
2/5 |
- |
2 |
12-25398270-T-G |
c.49A>C |
p.S17R |
Missense |
2/5 |
- |
2 |
12-25398269-C-A |
c.50G>T |
p.S17I |
Missense |
2/5 |
- |
2 |
12-25398269-C-CCCA |
c.49_50insTGG |
p.S17delinsMG |
MultiAAMissense |
2/5 |
- |
1 |
12-25398269-C-G |
c.50G>C |
p.S17T |
Missense |
2/5 |
- |
5 |
12-25398269-C-T |
c.50G>A |
p.S17N |
Missense |
2/5 |
- |
48 |
12-25398269-CT-AA |
c.49_50delinsTT |
p.S17F |
Missense |
2/5 |
- |
1 |
12-25398269-CT-GC |
c.49_50delinsGC |
p.S17A |
Missense |
2/5 |
- |
36 |
12-25398269-CT-TC |
c.49_50delinsGA |
p.S17D |
Missense |
2/5 |
- |
3 |
12-25398270-T-A |
c.49A>T |
p.S17C |
Missense |
2/5 |
- |
13 |
12-25398270-T-C |
c.49A>G |
p.S17G |
Missense |
2/5 |
- |
10 |
12-25398270-T-TAAG |
c.48_49insCTT |
p.K16_S17insL |
InFrameInsertion |
2/5 |
- |
1 |
12-25398271-C-A |
c.48G>T |
p.K16N |
Missense |
2/5 |
- |
4 |
12-25398271-C-G |
c.48G>C |
p.K16N |
Missense |
2/5 |
- |
3 |
12-25398271-C-T |
c.48G>A |
p.K16= |
Synonymous |
2/5 |
- |
1 |
12-25398272-T-A |
c.47A>T |
p.K16M |
Missense |
2/5 |
- |
2 |
12-25398272-T-C |
c.47A>G |
p.K16R |
Missense |
2/5 |
- |
4 |
12-25398272-T-G |
c.47A>C |
p.K16T |
Missense |
2/5 |
- |
2 |
12-25398272-TT-GC |
c.46_47delinsGC |
p.K16A |
Missense |
2/5 |
- |
1 |
12-25398273-T-C |
c.46A>G |
p.K16E |
Missense |
2/5 |
- |
4 |
12-25398273-T-G |
c.46A>C |
p.K16Q |
Missense |
2/5 |
- |
1 |
12-25398273-T-TC |
c.45_46insG |
p.K16Efs*18 |
Frameshift |
2/5 |
- |
1 |
12-25398274-G-A |
c.45C>T |
p.G15= |
Synonymous |
2/5 |
- |
3 |
12-25398274-G-C |
c.45C>G |
p.G15= |
Synonymous |
2/5 |
- |
4 |
12-25398274-GC-CT |
c.44_45delinsAG |
p.G15E |
Missense |
2/5 |
- |
1 |
12-25398274-G-T |
c.45C>A |
p.G15= |
Synonymous |
2/5 |
- |
3 |
12-25398275-C-A |
c.44G>T |
p.G15V |
Missense |
2/5 |
- |
7 |
12-25398275-CC-GT |
c.43_44delinsAC |
p.G15T |
Missense |
2/5 |
- |
1 |
12-25398275-CC-TA |
c.43_44delinsTA |
p.G15Y |
Missense |
2/5 |
- |
1 |
12-25398275-C-G |
c.44G>C |
p.G15A |
Missense |
2/5 |
- |
4 |
12-25398275-C-T |
c.44G>A |
p.G15D |
Missense |
2/5 |
- |
6 |
12-25398275-GCCTACGCC-G |
c.37_44del |
p.G13Qfs*18 |
Frameshift |
2/5 |
- |
1 |
12-25398276-C-A |
c.43G>T |
p.G15C |
Missense |
2/5 |
- |
3 |
12-25398276-C-G |
c.43G>C |
p.G15R |
Missense |
2/5 |
- |
2 |
12-25398276-C-T |
c.43G>A |
p.G15S |
Missense |
2/5 |
- |
14 |
12-25398277-T-A |
c.42A>T |
p.V14= |
Synonymous |
2/5 |
- |
3 |
12-25398277-TAC-CAT |
c.40_42delinsATG |
p.V14M |
Missense |
2/5 |
- |
1 |
12-25398277-TA-GATGT |
c.41_42delinsACATC |
p.V14delinsDI |
MultiAAMissense |
2/5 |
- |
1 |
12-25398277-T-C |
c.42A>G |
p.V14= |
Synonymous |
2/5 |
- |
3 |
12-25398277-T-G |
c.42A>C |
p.V14= |
Synonymous |
2/5 |
- |
2 |
12-25398278-A-C |
c.41T>G |
p.V14G |
Missense |
2/5 |
- |
4 |
12-25398278-AC-TA |
c.40_41delinsTA |
p.V14* |
Nonsense |
2/5 |
- |
1 |
12-25398278-A-G |
c.41T>C |
p.V14A |
Missense |
2/5 |
- |
9 |
12-25398278-A-T |
c.41T>A |
p.V14E |
Missense |
2/5 |
- |
1 |
12-25398278-A-ACAC |
c.40_41insGTG |
p.G13dup |
InFrameInsertion |
2/5 |
- |
4 |
12-25398279-AC-A |
c.40del |
p.V14* |
Frameshift |
2/5 |
- |
1 |
12-25398279-C-A |
c.40G>T |
p.V14L |
Missense |
2/5 |
- |
17 |
12-25398279-C-G |
c.40G>C |
p.V14L |
Missense |
2/5 |
- |
13 |
12-25398279-C-T |
c.40G>A |
p.V14I |
Missense |
2/5 |
- |
172 |
12-25398280-G-A |
c.39C>T |
p.G13= |
Synonymous |
2/5 |
- |
34 |
12-25398280-G-C |
c.39C>G |
p.G13= |
Synonymous |
2/5 |
- |
25 |
12-25398280-GC-ACCACCTG |
c.38_39delinsCAGGTGGT |
p.A11_G12dup |
MultiAAMissense |
2/5 |
- |
1 |
12-25398280-GC-AT |
c.38_39delinsAT |
p.G13D |
Missense |
2/5 |
- |
2 |
12-25398280-GCC-CAT |
c.37_39delinsATG |
p.G13M |
Missense |
2/5 |
- |
1 |
12-25398280-GC-CT |
c.38_39delinsAG |
p.G13E |
Missense |
2/5 |
- |
24 |
12-25398280-GCC-TCA |
c.37_39delinsTGA |
p.G13* |
Nonsense |
2/5 |
- |
44 |
12-25398280-G-T |
c.39C>A |
p.G13= |
Synonymous |
2/5 |
- |
30 |
12-25398280-G-TACA |
c.39delinsTGTA |
p.V14dup |
MultiAAMissense |
2/5 |
- |
1 |
12-25398281-C-A |
c.38G>T |
p.G13V |
Missense |
2/5 |
- |
216 |
12-25398281-CC-AA |
c.37_38delinsTT |
p.G13F |
Missense |
2/5 |
- |
5 |
12-25398281-CC-AT |
c.37_38delinsAT |
p.G13I |
Missense |
2/5 |
- |
7 |
12-25398281-CC-GG |
c.37_38inv |
p.G13P |
Missense |
2/5 |
- |
11 |
12-25398281-CC-TA |
c.37_38delinsTA |
p.G13Y |
Missense |
2/5 |
- |
7 |
12-25398281-CC-TG |
c.37_38delinsCA |
p.G13H |
Missense |
2/5 |
- |
2 |
12-25398281-CC-TT |
c.37_38delinsAA |
p.G13N |
Missense |
2/5 |
- |
12 |
12-25398281-C-G |
c.38G>C |
p.G13A |
Missense |
2/5 |
- |
130 |
12-25398281-C-T |
c.38G>A |
p.G13D |
Missense |
2/5 |
- |
2424 |
12-25398281-C-CCTG |
c.37_38insCAG |
p.G12_G13insA |
InFrameInsertion |
2/5 |
- |
3 |
12-25398282-C-A |
c.37G>T |
p.G13C |
Missense |
2/5 |
- |
579 |
12-25398282-CA-G |
c.36_37delinsC |
p.G13Afs*2 |
Frameshift |
2/5 |
- |
1 |
12-25398282-C-G |
c.37G>C |
p.G13R |
Missense |
2/5 |
- |
198 |
12-25398282-C-T |
c.37G>A |
p.G13S |
Missense |
2/5 |
- |
155 |
12-25398283-A-ATCAGCT |
c.35_36insAGCTGA |
p.G12_G13insAD |
InFrameInsertion |
2/5 |
- |
1 |
12-25398283-A-C |
c.36T>G |
p.G12= |
Synonymous |
2/5 |
- |
23 |
12-25398283-ACC-CCA |
c.34_36delinsTGG |
p.G12W |
Missense |
2/5 |
- |
28 |
12-25398283-ACC-CTT |
c.34_36delinsAAG |
p.G12K |
Missense |
2/5 |
- |
3 |
12-25398283-AC-CT |
c.35_36delinsAG |
p.G12E |
Missense |
2/5 |
- |
20 |
12-25398283-ACC-TCA |
c.34_36delinsTGA |
p.G12* |
Nonsense |
2/5 |
- |
101 |
12-25398283-ACC-TTG |
c.34_36delinsCAA |
p.G12Q |
Missense |
2/5 |
- |
1 |
12-25398283-A-G |
c.36T>C |
p.G12= |
Synonymous |
2/5 |
- |
29 |
12-25398283-A-T |
c.36T>A |
p.G12= |
Synonymous |
2/5 |
- |
25 |
12-25398284-ACC-A |
c.34_35del |
p.G12Wfs*21 |
Frameshift |
2/5 |
- |
1 |
12-25398284-C-A |
c.35G>T |
p.G12V |
Missense |
2/5 |
- |
3645 |
12-25398284-CC-AA |
c.34_35delinsTT |
p.G12F |
Missense |
2/5 |
- |
169 |
12-25398284-CC-AG |
c.34_35delinsCT |
p.G12L |
Missense |
2/5 |
- |
51 |
12-25398284-CC-AT |
c.34_35delinsAT |
p.G12I |
Missense |
2/5 |
- |
32 |
12-25398284-CC-GG |
c.34_35inv |
p.G12P |
Missense |
2/5 |
- |
5 |
12-25398284-CC-GT |
c.34_35delinsAC |
p.G12T |
Missense |
2/5 |
- |
9 |
12-25398284-CC-TA |
c.34_35delinsTA |
p.G12Y |
Missense |
2/5 |
- |
24 |
12-25398284-CC-TG |
c.34_35delinsCA |
p.G12H |
Missense |
2/5 |
- |
6 |
12-25398284-CC-TT |
c.34_35delinsAA |
p.G12N |
Missense |
2/5 |
- |
23 |
12-25398284-C-G |
c.35G>C |
p.G12A |
Missense |
2/5 |
- |
1421 |
12-25398284-C-T |
c.35G>A |
p.G12D |
Missense |
2/5 |
- |
5760 |
12-25398281-C-CCACCTG |
c.37_38insCAGGTG |
p.A11_G12dup |
InFrameInsertion |
2/5 |
- |
12 |
12-25398283-AC-A |
c.35del |
p.G12Vfs*3 |
Frameshift |
2/5 |
- |
4 |
12-25398284-C-CCTA |
c.34_35insTAG |
p.A11_G12insV |
InFrameInsertion |
2/5 |
- |
1 |
12-25398285-C-A |
c.34G>T |
p.G12C |
Missense |
2/5 |
- |
2965 |
12-25398285-C-CT |
c.33_34insA |
p.G12Rfs*22 |
Frameshift |
2/5 |
- |
1 |
12-25398285-C-G |
c.34G>C |
p.G12R |
Missense |
2/5 |
- |
1215 |
12-25398285-C-T |
c.34G>A |
p.G12S |
Missense |
2/5 |
- |
1414 |
12-25398284-C-CCACCTG |
c.34_35insCAGGTG |
p.A11_G12insAG |
InFrameInsertion |
2/5 |
- |
1 |
12-25398286-A-C |
c.33T>G |
p.A11= |
Synonymous |
2/5 |
- |
11 |
12-25398286-A-G |
c.33T>C |
p.A11= |
Synonymous |
2/5 |
- |
15 |
12-25398286-AGC-CAT |
c.31_33delinsATG |
p.A11M |
Missense |
2/5 |
- |
3 |
12-25398286-AGC-CCA |
c.31_33delinsTGG |
p.A11W |
Missense |
2/5 |
- |
4 |
12-25398286-AG-CT |
c.32_33inv |
p.A11E |
Missense |
2/5 |
- |
4 |
12-25398286-AGC-TTG |
c.31_33delinsCAA |
p.A11Q |
Missense |
2/5 |
- |
1 |
12-25398286-A-T |
c.33T>A |
p.A11= |
Synonymous |
2/5 |
- |
13 |
12-25398287-G-A |
c.32C>T |
p.A11V |
Missense |
2/5 |
- |
19 |
12-25398287-G-C |
c.32C>G |
p.A11G |
Missense |
2/5 |
- |
3 |
12-25398287-GC-AA |
c.31_32delinsTT |
p.A11F |
Missense |
2/5 |
- |
1 |
12-25398287-GC-AG |
c.31_32delinsCT |
p.A11L |
Missense |
2/5 |
- |
2 |
12-25398287-GC-AT |
c.31_32delinsAT |
p.A11I |
Missense |
2/5 |
- |
1 |
12-25398287-GC-CA |
c.31_32delinsTG |
p.A11C |
Missense |
2/5 |
- |
2 |
12-25398287-GC-CG |
c.31_32delinsCG |
p.A11R |
Missense |
2/5 |
- |
1 |
12-25398287-GC-TG |
c.31_32delinsCA |
p.A11H |
Missense |
2/5 |
- |
1 |
12-25398287-GC-TT |
c.31_32delinsAA |
p.A11N |
Missense |
2/5 |
- |
4 |
12-25398287-G-T |
c.32C>A |
p.A11D |
Missense |
2/5 |
- |
10 |
12-25398287-G-GCAC |
c.31_32insGTG |
p.G10dup |
InFrameInsertion |
2/5 |
- |
6 |
12-25398288-C-A |
c.31G>T |
p.A11S |
Missense |
2/5 |
- |
3 |
12-25398288-C-G |
c.31G>C |
p.A11P |
Missense |
2/5 |
- |
8 |
12-25398288-C-T |
c.31G>A |
p.A11T |
Missense |
2/5 |
- |
14 |
12-25398287-GCTC-G |
c.29_31del |
p.G10del |
InFrameDeletion |
2/5 |
- |
1 |
12-25398289-T-A |
c.30A>T |
p.G10= |
Synonymous |
2/5 |
- |
2 |
12-25398289-T-C |
c.30A>G |
p.G10= |
Synonymous |
2/5 |
- |
2 |
12-25398289-TCC-ATG |
c.28_30delinsCAT |
p.G10H |
Missense |
2/5 |
- |
1 |
12-25398289-T-G |
c.30A>C |
p.G10= |
Synonymous |
2/5 |
- |
3 |
12-25398290-C-A |
c.29G>T |
p.G10V |
Missense |
2/5 |
- |
6 |
12-25398290-CC-AG |
c.28_29delinsCT |
p.G10L |
Missense |
2/5 |
- |
1 |
12-25398290-CC-AT |
c.28_29delinsAT |
p.G10I |
Missense |
2/5 |
- |
2 |
12-25398290-CC-GG |
c.28_29inv |
p.G10P |
Missense |
2/5 |
- |
2 |
12-25398290-CC-TT |
c.28_29delinsAA |
p.G10K |
Missense |
2/5 |
- |
1 |
12-25398290-C-G |
c.29G>C |
p.G10A |
Missense |
2/5 |
- |
1 |
12-25398290-C-T |
c.29G>A |
p.G10E |
Missense |
2/5 |
- |
5 |
12-25398290-C-CCTA |
c.28_29insTAG |
p.V9dup |
InFrameInsertion |
2/5 |
- |
1 |
12-25398291-C-A |
c.28G>T |
p.G10* |
Nonsense |
2/5 |
- |
4 |
12-25398291-C-G |
c.28G>C |
p.G10R |
Missense |
2/5 |
- |
8 |
12-25398291-C-T |
c.28G>A |
p.G10R |
Missense |
2/5 |
- |
9 |
12-25398292-A-C |
c.27T>G |
p.V9= |
Synonymous |
2/5 |
- |
1 |
12-25398292-A-G |
c.27T>C |
p.V9= |
Synonymous |
2/5 |
- |
2 |
12-25398292-A-T |
c.27T>A |
p.V9= |
Synonymous |
2/5 |
- |
1 |
12-25398293-A-C |
c.26T>G |
p.V9G |
Missense |
2/5 |
- |
1 |
12-25398293-A-G |
c.26T>C |
p.V9A |
Missense |
2/5 |
- |
1 |
12-25398293-A-T |
c.26T>A |
p.V9D |
Missense |
2/5 |
- |
1 |
12-25398294-C-A |
c.25G>T |
p.V9F |
Missense |
2/5 |
- |
1 |
12-25398294-C-T |
c.25G>A |
p.V9I |
Missense |
2/5 |
- |
4 |
12-25398295-T-A |
c.24A>T |
p.V8= |
Synonymous |
2/5 |
- |
4 |
12-25398295-TAC-CAT |
c.22_24delinsATG |
p.V8M |
Missense |
2/5 |
- |
2 |
12-25398295-T-C |
c.24A>G |
p.V8= |
Synonymous |
2/5 |
- |
15 |
12-25398295-T-G |
c.24A>C |
p.V8= |
Synonymous |
2/5 |
- |
4 |
12-25398296-A-G |
c.23T>C |
p.V8A |
Missense |
2/5 |
- |
2 |
12-25398297-C-A |
c.22G>T |
p.V8L |
Missense |
2/5 |
- |
4 |
12-25398297-C-G |
c.22G>C |
p.V8L |
Missense |
2/5 |
- |
2 |
12-25398297-C-T |
c.22G>A |
p.V8I |
Missense |
2/5 |
- |
5 |
12-25398296-AC-A |
c.22del |
p.V8* |
Frameshift |
2/5 |
- |
1 |
12-25398298-C-A |
c.21G>T |
p.V7= |
Synonymous |
2/5 |
- |
2 |
12-25398298-C-G |
c.21G>C |
p.V7= |
Synonymous |
2/5 |
- |
1 |
12-25398298-C-T |
c.21G>A |
p.V7= |
Synonymous |
2/5 |
- |
1 |
12-25398299-A-C |
c.20T>G |
p.V7G |
Missense |
2/5 |
- |
1 |
12-25398299-A-G |
c.20T>C |
p.V7A |
Missense |
2/5 |
- |
1 |
12-25398299-A-T |
c.20T>A |
p.V7E |
Missense |
2/5 |
- |
2 |
12-25398300-C-A |
c.19G>T |
p.V7L |
Missense |
2/5 |
- |
3 |
12-25398300-C-G |
c.19G>C |
p.V7L |
Missense |
2/5 |
- |
1 |
12-25398300-C-T |
c.19G>A |
p.V7M |
Missense |
2/5 |
- |
2 |
12-25398301-A-G |
c.18T>C |
p.L6= |
Synonymous |
2/5 |
- |
1 |
12-25398302-A-G |
c.17T>C |
p.L6P |
Missense |
2/5 |
- |
1 |
12-25398302-A-T |
c.17T>A |
p.L6H |
Missense |
2/5 |
- |
1 |
12-25398303-G-C |
c.16C>G |
p.L6V |
Missense |
2/5 |
- |
1 |
12-25398303-G-T |
c.16C>A |
p.L6I |
Missense |
2/5 |
- |
2 |
12-25398304-T-A |
c.15A>T |
p.K5N |
Missense |
2/5 |
- |
14 |
12-25398304-T-C |
c.15A>G |
p.K5= |
Synonymous |
2/5 |
- |
2 |
12-25398304-T-G |
c.15A>C |
p.K5N |
Missense |
2/5 |
- |
5 |
12-25398305-T-C |
c.14A>G |
p.K5R |
Missense |
2/5 |
- |
1 |
12-25398305-T-G |
c.14A>C |
p.K5T |
Missense |
2/5 |
- |
1 |
12-25398303-G-GT |
c.15dup |
p.L6Tfs*28 |
Frameshift |
2/5 |
- |
2 |
12-25398303-GT-G |
c.15del |
p.K5Nfs*4 |
Frameshift |
2/5 |
- |
1 |
12-25398306-T-A |
c.13A>T |
p.K5* |
Nonsense |
2/5 |
- |
1 |
12-25398306-T-C |
c.13A>G |
p.K5E |
Missense |
2/5 |
- |
27 |
12-25398307-A-C |
c.12T>G |
p.Y4* |
Nonsense |
2/5 |
- |
2 |
12-25398307-A-T |
c.12T>A |
p.Y4* |
Nonsense |
2/5 |
- |
2 |
12-25398307-TA-T |
c.12del |
p.Y4* |
Frameshift |
2/5 |
- |
1 |
12-25398308-T-A |
c.11A>T |
p.Y4F |
Missense |
2/5 |
- |
1 |
12-25398308-T-C |
c.11A>G |
p.Y4C |
Missense |
2/5 |
- |
1 |
12-25398309-A-G |
c.10T>C |
p.Y4H |
Missense |
2/5 |
- |
1 |
12-25398309-A-T |
c.10T>A |
p.Y4N |
Missense |
2/5 |
- |
1 |
12-25398310-T-A |
c.9A>T |
p.E3D |
Missense |
2/5 |
- |
1 |
12-25398310-T-C |
c.9A>G |
p.E3= |
Synonymous |
2/5 |
- |
3 |
12-25398310-T-G |
c.9A>C |
p.E3D |
Missense |
2/5 |
- |
1 |
12-25398311-T-A |
c.8A>T |
p.E3V |
Missense |
2/5 |
- |
1 |
12-25398311-T-C |
c.8A>G |
p.E3G |
Missense |
2/5 |
- |
1 |
12-25398311-T-TA |
c.7_8insT |
p.E3Vfs*3 |
Frameshift |
2/5 |
- |
1 |
12-25398312-C-A |
c.7G>T |
p.E3* |
Nonsense |
2/5 |
- |
3 |
12-25398312-C-T |
c.7G>A |
p.E3K |
Missense |
2/5 |
- |
2 |
12-25398313-A-C |
c.6T>G |
p.T2= |
Synonymous |
2/5 |
- |
10 |
12-25398313-A-G |
c.6T>C |
p.T2= |
Synonymous |
2/5 |
- |
10 |
12-25398313-A-T |
c.6T>A |
p.T2= |
Synonymous |
2/5 |
- |
10 |
12-25398313-CAGT-C |
c.4_6del |
p.T2del |
InFrameDeletion |
2/5 |
- |
1 |
12-25398314-G-A |
c.5C>T |
p.T2I |
Missense |
2/5 |
- |
3 |
12-25398314-G-C |
c.5C>G |
p.T2S |
Missense |
2/5 |
- |
2 |
12-25398314-G-T |
c.5C>A |
p.T2N |
Missense |
2/5 |
- |
1 |
12-25398315-T-A |
c.4A>T |
p.T2S |
Missense |
2/5 |
- |
1 |
12-25398315-T-C |
c.4A>G |
p.T2A |
Missense |
2/5 |
- |
2 |
12-25398316-C-A |
c.3G>T |
p.M1? |
Missense |
2/5 |
- |
2 |
12-25398316-C-G |
c.3G>C |
p.M1? |
Missense |
2/5 |
- |
1 |
12-25398316-C-T |
c.3G>A |
p.M1? |
Missense |
2/5 |
- |
4 |
12-25398318-T-C |
c.1A>G |
p.M1? |
Missense |
2/5 |
- |
1 |
12-25398327-G-A |
c.-9C>T |
- |
5-UTRSNV |
2/5 |
- |
6 |
12-25398972-C-T |
c.-11-643G>A |
- |
IntronicSNV |
- |
1/4 |
1 |
12-25398973-G-A |
c.-11-644C>T |
- |
IntronicSNV |
- |
1/4 |
1 |
12-25398973-G-C |
c.-11-644C>G |
- |
IntronicSNV |
- |
1/4 |
1 |
12-25399121-A-C |
c.-11-792T>G |
- |
IntronicSNV |
- |
1/4 |
1 |
12-25400206-G-C |
c.-11-1877C>G |
- |
IntronicSNV |
- |
1/4 |
1 |
12-25400206-G-T |
c.-11-1877C>A |
- |
IntronicSNV |
- |
1/4 |
1 |
12-25400531-T-A |
c.-11-2202A>T |
- |
IntronicSNV |
- |
1/4 |
1 |
12-25400531-T-C |
c.-11-2202A>G |
- |
IntronicSNV |
- |
1/4 |
1 |
12-25400962-G-C |
c.-11-2633C>G |
- |
IntronicSNV |
- |
1/4 |
2 |
12-25400962-G-T |
c.-11-2633C>A |
- |
IntronicSNV |
- |
1/4 |
2 |
12-25400975-C-T |
c.-11-2646G>A |
- |
IntronicSNV |
- |
1/4 |
1 |
12-25401032-C-T |
c.-12+2653G>A |
- |
intron_variant |
- |
1/4 |
1 |
12-25401033-G-A |
c.-12+2652C>T |
- |
intron_variant |
- |
1/4 |
1 |
12-25401041-C-T |
c.-12+2644G>A |
- |
intron_variant |
- |
1/4 |
1 |
12-25401042-G-A |
c.-12+2643C>T |
- |
intron_variant |
- |
1/4 |
1 |
12-25401701-T-C |
c.-12+1984A>G |
- |
intron_variant |
- |
1/4 |
3 |
12-25401822-T-C |
c.-12+1863A>G |
- |
intron_variant |
- |
1/4 |
1 |
12-25402253-T-A |
c.-12+1432A>T |
- |
intron_variant |
- |
1/4 |
1 |
12-25402253-T-C |
c.-12+1432A>G |
- |
intron_variant |
- |
1/4 |
1 |
12-25402255-C-G |
c.-12+1430G>C |
- |
intron_variant |
- |
1/4 |
1 |
12-25402387-T-C |
c.-12+1298A>G |
- |
intron_variant |
- |
1/4 |
1 |
12-25402598-T-C |
c.-12+1087A>G |
- |
intron_variant |
- |
1/4 |
1 |
12-25402666-A-G |
c.-12+1019T>C |
- |
intron_variant |
- |
1/4 |
1 |
12-25403356-C-T |
c.-12+329G>A |
- |
intron_variant |
- |
1/4 |
2 |
12-25403523-C-A |
c.-12+162G>T |
- |
intron_variant |
- |
1/4 |
1 |
12-25403523-C-G |
c.-12+162G>C |
- |
intron_variant |
- |
1/4 |
1 |
12-25403523-C-T |
c.-12+162G>A |
- |
intron_variant |
- |
1/4 |
1 |
12-25403667-G-A |
c.-12+18C>T |
- |
intron_variant |
- |
1/4 |
1 |