3-37034946-G-A |
c.-93G>A |
- |
5-UTRSNV |
1/19 |
- |
77 |
3-37035011-A-G |
c.-28A>G |
- |
5-UTRSNV |
1/19 |
- |
1 |
3-37035011-A-C |
c.-28A>C |
- |
5-UTRSNV |
1/19 |
- |
1 |
3-37035011-A-T |
c.-28A>T |
- |
5-UTRSNV |
1/19 |
- |
1 |
3-37035012-C-A |
c.-27C>A |
- |
5-UTRSNV |
1/19 |
- |
10 |
3-37035028-C-T |
c.-11C>T |
- |
5-UTRSNV |
1/19 |
- |
2 |
3-37035032-C-A |
c.-7C>A |
- |
5-UTRSNV |
1/19 |
- |
1 |
3-37035032-C-T |
c.-7C>T |
- |
5-UTRSNV |
1/19 |
- |
1 |
3-37035039-A-G |
c.1A>G |
p.Met1? |
Missense |
1/19 |
- |
4 |
3-37035040-T-C |
c.2T>C |
p.Met1? |
Missense |
1/19 |
- |
1 |
3-37035040-T-G |
c.2T>G |
p.Met1? |
Missense |
1/19 |
- |
2 |
3-37035040-T-A |
c.2T>A |
p.Met1? |
Missense |
1/19 |
- |
2 |
3-37035041-G-T |
c.3G>T |
p.Met1? |
Missense |
1/19 |
- |
1 |
3-37035041-G-A |
c.3G>A |
p.Met1? |
Missense |
1/19 |
- |
1 |
3-37035042-GTCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGGC-G |
c.4_62del |
p.Ser2Glyfs*9 |
InFrameDeletion |
1/19 |
- |
1 |
3-37035053-CAGGGGTTATTCGGC-C |
c.15_28del |
p.Gly6Alafs*20 |
Frameshift |
1/19 |
- |
1 |
3-37035056-GGGTTATTCGGCGGCTGG-G |
c.18_34del |
p.Val7Argfs*18 |
Frameshift |
1/19 |
- |
1 |
3-37035061-T-C |
c.23T>C |
p.Ile8Thr |
Missense |
1/19 |
- |
1 |
3-37035063-C-T |
c.25C>T |
p.Arg9Trp |
Missense |
1/19 |
- |
1 |
3-37035065-G-A |
c.27G>A |
p.Arg9Arg |
Synonymous |
1/19 |
- |
1 |
3-37035069-C-A |
c.31C>A |
p.Leu11Met |
Missense |
1/19 |
- |
1 |
3-37035069-CT-TA |
c.31_32delinsTA |
p.Leu11* |
Nonsense |
1/19 |
- |
1 |
3-37035072-G-GG |
c.34dup |
p.Asp12Glyfs*19 |
Frameshift |
1/19 |
- |
1 |
3-37035072-G-T |
c.34G>T |
p.Asp12Tyr |
Missense |
1/19 |
- |
1 |
3-37035073-A-C |
c.35A>C |
p.Asp12Ala |
Missense |
1/19 |
- |
1 |
3-37035075-G-A |
c.37G>A |
p.Glu13Lys |
Missense |
1/19 |
- |
1 |
3-37035075-G-T |
c.37G>T |
p.Glu13* |
Nonsense |
1/19 |
- |
1 |
3-37035075-GAG-AAC |
c.37_39delinsAAC |
p.Glu13Asn |
Missense |
1/19 |
- |
1 |
3-37035078-ACA-GAC |
c.40_42delinsGAC |
p.Thr14Asp |
Missense |
1/19 |
- |
1 |
3-37035079-C-T |
c.41C>T |
p.Thr14Ile |
Missense |
1/19 |
- |
2 |
3-37035084-G-C |
c.46G>C |
p.Val16Leu |
Missense |
1/19 |
- |
2 |
3-37035085-T-G |
c.47T>G |
p.Val16Gly |
Missense |
1/19 |
- |
1 |
3-37035090-C-T |
c.52C>T |
p.Arg18Cys |
Missense |
1/19 |
- |
1 |
3-37035090-CGC-AAG |
c.52_54delinsAAG |
p.Arg18Lys |
Missense |
1/19 |
- |
1 |
3-37035093-A-T |
c.55A>T |
p.Ile19Phe |
Missense |
1/19 |
- |
3 |
3-37035095-C-G |
c.57C>G |
p.Ile19Met |
Missense |
1/19 |
- |
2 |
3-37035097-CG-AC |
c.59_60delinsAC |
p.Ala20Asp |
Missense |
1/19 |
- |
1 |
3-37035100-C-T |
c.62C>T |
p.Ala21Val |
Missense |
1/19 |
- |
1 |
3-37035100-C-A |
c.62C>A |
p.Ala21Glu |
Missense |
1/19 |
- |
1 |
3-37035103-G-C |
c.65G>C |
p.Gly22Ala |
Missense |
1/19 |
- |
8 |
3-37035104-G-GT |
c.66_67insT |
p.Glu23* |
Nonsense |
1/19 |
- |
1 |
3-37035105-G-A |
c.67G>A |
p.Glu23Lys |
Missense |
1/19 |
- |
2 |
3-37035105-GG-G |
c.67del |
p.Glu23Lysfs*13 |
Frameshift |
1/19 |
- |
2 |
3-37035107-A-T |
c.69A>T |
p.Glu23Asp |
Missense |
1/19 |
- |
1 |
3-37035107-A-C |
c.69A>C |
p.Glu23Asp |
Missense |
1/19 |
- |
1 |
3-37035111-A-T |
c.73A>T |
p.Ile25Phe |
Missense |
1/19 |
- |
1 |
3-37035112-T-C |
c.74T>C |
p.Ile25Thr |
Missense |
1/19 |
- |
2 |
3-37035114-C-T |
c.76C>T |
p.Gln26* |
Nonsense |
1/19 |
- |
1 |
3-37035117-CG-GC |
c.79_80delinsGC |
p.Arg27Ala |
Missense |
1/19 |
- |
1 |
3-37035118-GG-AT |
c.80_81delinsAT |
p.Arg27His |
Missense |
1/19 |
- |
1 |
3-37035118-G-C |
c.80G>C |
p.Arg27Pro |
Missense |
1/19 |
- |
1 |
3-37035118-G-A |
c.80G>A |
p.Arg27Gln |
Missense |
1/19 |
- |
1 |
3-37035121-C-T |
c.83C>T |
p.Pro28Leu |
Missense |
1/19 |
- |
8 |
3-37035123-G-T |
c.85G>T |
p.Ala29Ser |
Missense |
1/19 |
- |
10 |
3-37035125-CTAATGCT-C |
c.87_93del |
p.Asn30Serfs*4 |
Frameshift |
1/19 |
- |
1 |
3-37035129-GC-TG |
c.91_92delinsTG |
p.Ala31Cys |
Missense |
1/19 |
- |
1 |
3-37035130-CT-AG |
c.92_93inv |
p.Ala31Glu |
Missense |
1/19 |
- |
1 |
3-37035132-A-G |
c.94A>G |
p.Ile32Val |
Missense |
1/19 |
- |
1 |
3-37035133-T-A |
c.95T>A |
p.Ile32Asn |
Missense |
1/19 |
- |
1 |
3-37035134-C-CT |
c.96_97insT |
p.Lys33* |
Nonsense |
1/19 |
- |
1 |
3-37035135-A-G |
c.97A>G |
p.Lys33Glu |
Missense |
1/19 |
- |
1 |
3-37035136-A-G |
c.98A>G |
p.Lys33Arg |
Missense |
1/19 |
- |
1 |
3-37035138-G-T |
c.100G>T |
p.Glu34* |
Nonsense |
1/19 |
- |
1 |
3-37035139-A-T |
c.101A>T |
p.Glu34Val |
Missense |
1/19 |
- |
1 |
3-37035139-A-C |
c.101A>C |
p.Glu34Ala |
Missense |
1/19 |
- |
4 |
3-37035142-T-G |
c.104T>G |
p.Met35Arg |
Missense |
1/19 |
- |
2 |
3-37035143-TGAT-T |
c.105_107del |
p.Met35del |
InFrameDeletion |
1/19 |
- |
2 |
3-37035145-T-A |
c.107T>A |
p.Ile36Asn |
Missense |
1/19 |
- |
2 |
3-37035145-T-C |
c.107T>C |
p.Ile36Thr |
Missense |
1/19 |
- |
1 |
3-37035145-T-G |
c.107T>G |
p.Ile36Ser |
Missense |
1/19 |
- |
1 |
3-37035147-G-A |
c.109G>A |
p.Glu37Lys |
Missense |
1/19 |
- |
3 |
3-37035148-A-G |
c.110A>G |
p.Glu37Gly |
Missense |
1/19 |
- |
1 |
3-37035150-A-G |
c.112A>G |
p.Asn38Asp |
Missense |
1/19 |
- |
4 |
3-37035150-A-C |
c.112A>C |
p.Asn38His |
Missense |
1/19 |
- |
4 |
3-37035150-AA-GC |
c.112_113delinsGC |
p.Asn38Ala |
Missense |
1/19 |
- |
1 |
3-37035151-A-G |
c.113A>G |
p.Asn38Ser |
Missense |
1/19 |
- |
7 |
3-37035152-C-G |
c.114C>G |
p.Asn38Lys |
Missense |
1/19 |
- |
1 |
3-37035153-TG-GC |
c.115_116delinsGC |
p.Cys39Ala |
Missense |
1/19 |
- |
1 |
3-37035154-G-A |
c.116G>A |
p.Cys39Tyr |
Missense |
1/19 |
- |
3 |
3-37035159-G-C |
c.116+5G>C |
- |
IntronicSNV |
- |
1/18 |
6 |
3-37035834-A-G |
c.116+680A>G |
- |
IntronicSNV |
- |
1/18 |
2 |
3-37035834-A-T |
c.116+680A>T |
- |
IntronicSNV |
- |
1/18 |
2 |
3-37035884-C-T |
c.116+730C>T |
- |
IntronicSNV |
- |
1/18 |
1 |
3-37038076-A-T |
c.117-34A>T |
- |
IntronicSNV |
- |
1/18 |
1 |
3-37038108-A-G |
c.117-2A>G |
- |
IntronicSNV |
- |
1/18 |
3 |
3-37038108-A-T |
c.117-2A>T |
- |
IntronicSNV |
- |
1/18 |
1 |
3-37038110-GTTTAG-G |
c.117_121del |
p.Cys39* |
SpliceAcceptorDeletion |
2/19 |
- |
1 |
3-37038112-TT-T |
c.119del |
p.Leu40* |
Frameshift |
2/19 |
- |
1 |
3-37038114-G-A |
c.121G>A |
p.Asp41Asn |
Missense |
2/19 |
- |
1 |
3-37038115-A-G |
c.122A>G |
p.Asp41Gly |
Missense |
2/19 |
- |
5 |
3-37038115-A-C |
c.122A>C |
p.Asp41Ala |
Missense |
2/19 |
- |
1 |
3-37038115-A-T |
c.122A>T |
p.Asp41Val |
Missense |
2/19 |
- |
1 |
3-37038118-C-T |
c.125C>T |
p.Ala42Val |
Missense |
2/19 |
- |
2 |
3-37038123-T-G |
c.130T>G |
p.Ser44Ala |
Missense |
2/19 |
- |
2 |
3-37038123-T-C |
c.130T>C |
p.Ser44Pro |
Missense |
2/19 |
- |
2 |
3-37038123-TC-CT |
c.130_131delinsCT |
p.Ser44Leu |
Missense |
2/19 |
- |
2 |
3-37038124-C-T |
c.131C>T |
p.Ser44Phe |
Missense |
2/19 |
- |
6 |
3-37038130-G-T |
c.137G>T |
p.Ser46Ile |
Missense |
2/19 |
- |
3 |
3-37038130-G-A |
c.137G>A |
p.Ser46Asn |
Missense |
2/19 |
- |
1 |
3-37038136-A-C |
c.143A>C |
p.Gln48Pro |
Missense |
2/19 |
- |
1 |
3-37038139-T-A |
c.146T>A |
p.Val49Glu |
Missense |
2/19 |
- |
2 |
3-37038147-AAA-TGT |
c.154_156delinsTGT |
p.Lys52Cys |
Missense |
2/19 |
- |
1 |
3-37038148-AAAGA-A |
c.155_158del |
p.Lys52Argfs*4 |
Frameshift |
2/19 |
- |
1 |
3-37038148-A-G |
c.155A>G |
p.Lys52Arg |
Missense |
2/19 |
- |
2 |
3-37038151-A-C |
c.158A>C |
p.Glu53Ala |
Missense |
2/19 |
- |
1 |
3-37038152-G-C |
c.159G>C |
p.Glu53Asp |
Missense |
2/19 |
- |
1 |
3-37038152-G-T |
c.159G>T |
p.Glu53Asp |
Missense |
2/19 |
- |
1 |
3-37038154-G-A |
c.161G>A |
p.Gly54Glu |
Missense |
2/19 |
- |
1 |
3-37038164-AG-A |
c.171del |
p.Lys57Asnfs*2 |
Frameshift |
2/19 |
- |
1 |
3-37038168-A-AA |
c.175dup |
p.Ile59Asnfs*20 |
Frameshift |
2/19 |
- |
1 |
3-37038169-T-A |
c.176T>A |
p.Ile59Asn |
Missense |
2/19 |
- |
1 |
3-37038171-C-T |
c.178C>T |
p.Gln60* |
Nonsense |
2/19 |
- |
2 |
3-37038177-C-A |
c.184C>A |
p.Gln62Lys |
Missense |
2/19 |
- |
3 |
3-37038177-C-T |
c.184C>T |
p.Gln62* |
Nonsense |
2/19 |
- |
4 |
3-37038179-A-C |
c.186A>C |
p.Gln62His |
Missense |
2/19 |
- |
1 |
3-37038180-G-A |
c.187G>A |
p.Asp63Asn |
Missense |
2/19 |
- |
2 |
3-37038180-G-C |
c.187G>C |
p.Asp63His |
Missense |
2/19 |
- |
1 |
3-37038182-C-A |
c.189C>A |
p.Asp63Glu |
Missense |
2/19 |
- |
1 |
3-37038182-C-G |
c.189C>G |
p.Asp63Glu |
Missense |
2/19 |
- |
1 |
3-37038184-A-G |
c.191A>G |
p.Asn64Ser |
Missense |
2/19 |
- |
6 |
3-37038187-G-A |
c.194G>A |
p.Gly65Asp |
Missense |
2/19 |
- |
4 |
3-37038190-ACCGGGATCAGGGTAAGTAAAACCTCAAAGTA-A |
c.197_207+20del |
- |
SpliceDonorDeletion |
2/19 |
2/18 |
1 |
3-37038191-C-T |
c.198C>T |
p.Thr66Thr |
Synonymous |
2/19 |
- |
2 |
3-37038192-G-T |
c.199G>T |
p.Gly67Trp |
Missense |
2/19 |
- |
7 |
3-37038192-G-A |
c.199G>A |
p.Gly67Arg |
Missense |
2/19 |
- |
40 |
3-37038192-GGG-AGC |
c.199_201delinsAGC |
p.Gly67Ser |
Missense |
2/19 |
- |
2 |
3-37038193-G-A |
c.200G>A |
p.Gly67Glu |
Missense |
2/19 |
- |
8 |
3-37038196-T-A |
c.203T>A |
p.Ile68Asn |
Missense |
2/19 |
- |
5 |
3-37038197-C-G |
c.204C>G |
p.Ile68Met |
Missense |
2/19 |
- |
3 |
3-37038198-A-G |
c.205A>G |
p.Arg69Gly |
Missense |
2/19 |
- |
1 |
3-37038199-G-A |
c.206G>A |
p.Arg69Lys |
Missense |
2/19 |
- |
1 |
3-37038201-GG-G |
c.207+1del |
- |
IntronicDeletion |
- |
2/18 |
1 |
3-37041320-C-A |
c.208-1126C>A |
- |
IntronicSNV |
- |
2/18 |
1 |
3-37041320-C-G |
c.208-1126C>G |
- |
IntronicSNV |
- |
2/18 |
1 |
3-37042443-C-G |
c.208-3C>G |
- |
IntronicSNV |
- |
2/18 |
2 |
3-37042444-A-G |
c.208-2A>G |
- |
IntronicSNV |
- |
2/18 |
1 |
3-37042445-G-A |
c.208-1G>A |
- |
IntronicSNV |
- |
2/18 |
3 |
3-37042448-A-C |
c.210A>C |
p.Lys70Asn |
Missense |
3/19 |
- |
1 |
3-37042448-AAGAA-A |
c.210_213del |
p.Glu71Ilefs*20 |
Frameshift |
3/19 |
- |
4 |
3-37042449-G-T |
c.211G>T |
p.Glu71* |
Nonsense |
3/19 |
- |
1 |
3-37042451-AAGA-A |
c.213_215del |
p.Glu71del |
InFrameDeletion |
3/19 |
- |
5 |
3-37042452-G-C |
c.214G>C |
p.Asp72His |
Missense |
3/19 |
- |
1 |
3-37042452-G-T |
c.214G>T |
p.Asp72Tyr |
Missense |
3/19 |
- |
1 |
3-37042454-T-C |
c.216T>C |
p.Asp72Asp |
Synonymous |
3/19 |
- |
1 |
3-37042456-T-G |
c.218T>G |
p.Leu73Arg |
Missense |
3/19 |
- |
1 |
3-37042456-T-C |
c.218T>C |
p.Leu73Pro |
Missense |
3/19 |
- |
1 |
3-37042458-GA-TG |
c.220_221delinsTG |
p.Asp74Cys |
Missense |
3/19 |
- |
1 |
3-37042463-TT-T |
c.225del |
p.Ile75Metfs*17 |
Frameshift |
3/19 |
- |
1 |
3-37042464-G-A |
c.226G>A |
p.Val76Ile |
Missense |
3/19 |
- |
1 |
3-37042467-T-C |
c.229T>C |
p.Cys77Arg |
Missense |
3/19 |
- |
5 |
3-37042467-TG-AC |
c.229_230delinsAC |
p.Cys77Thr |
Missense |
3/19 |
- |
1 |
3-37042468-G-A |
c.230G>A |
p.Cys77Tyr |
Missense |
3/19 |
- |
6 |
3-37042476-T-G |
c.238T>G |
p.Phe80Val |
Missense |
3/19 |
- |
2 |
3-37042480-C-T |
c.242C>T |
p.Thr81Ile |
Missense |
3/19 |
- |
1 |
3-37042482-A-G |
c.244A>G |
p.Thr82Ala |
Missense |
3/19 |
- |
3 |
3-37042483-C-T |
c.245C>T |
p.Thr82Ile |
Missense |
3/19 |
- |
4 |
3-37042488-A-T |
c.250A>T |
p.Lys84* |
Nonsense |
3/19 |
- |
1 |
3-37042488-A-G |
c.250A>G |
p.Lys84Glu |
Missense |
3/19 |
- |
8 |
3-37042494-C-T |
c.256C>T |
p.Gln86* |
Nonsense |
3/19 |
- |
1 |
3-37042498-C-G |
c.260C>G |
p.Ser87Cys |
Missense |
3/19 |
- |
1 |
3-37042501-TTT-T |
c.263_264del |
p.Phe88* |
Frameshift |
3/19 |
- |
1 |
3-37042503-G-T |
c.265G>T |
p.Glu89* |
Nonsense |
3/19 |
- |
1 |
3-37042503-G-C |
c.265G>C |
p.Glu89Gln |
Missense |
3/19 |
- |
2 |
3-37042506-GA-TG |
c.268_269delinsTG |
p.Asp90Cys |
Missense |
3/19 |
- |
1 |
3-37042513-C-A |
c.275C>A |
p.Ala92Asp |
Missense |
3/19 |
- |
1 |
3-37042513-GCCAG-G |
c.275_278del |
p.Ala92Valfs*15 |
Frameshift |
3/19 |
- |
1 |
3-37042515-A-G |
c.277A>G |
p.Ser93Gly |
Missense |
3/19 |
- |
8 |
3-37042516-AG-A |
c.278del |
p.Ser93Ilefs*15 |
Frameshift |
3/19 |
- |
1 |
3-37042521-T-G |
c.283T>G |
p.Ser95Ala |
Missense |
3/19 |
- |
1 |
3-37042522-TC-T |
c.284del |
p.Ser95Leufs*13 |
Frameshift |
3/19 |
- |
1 |
3-37042527-T-G |
c.289T>G |
p.Tyr97Asp |
Missense |
3/19 |
- |
2 |
3-37042528-A-G |
c.290A>G |
p.Tyr97Cys |
Missense |
3/19 |
- |
1 |
3-37042530-G-A |
c.292G>A |
p.Gly98Ser |
Missense |
3/19 |
- |
2 |
3-37042531-G-A |
c.293G>A |
p.Gly98Asp |
Missense |
3/19 |
- |
2 |
3-37042531-G-C |
c.293G>C |
p.Gly98Ala |
Missense |
3/19 |
- |
3 |
3-37042531-G-T |
c.293G>T |
p.Gly98Val |
Missense |
3/19 |
- |
1 |
3-37042533-T-C |
c.295T>C |
p.Phe99Leu |
Missense |
3/19 |
- |
2 |
3-37042535-T-G |
c.297T>G |
p.Phe99Leu |
Missense |
3/19 |
- |
2 |
3-37042535-T-A |
c.297T>A |
p.Phe99Leu |
Missense |
3/19 |
- |
2 |
3-37042536-C-T |
c.298C>T |
p.Arg100* |
Nonsense |
3/19 |
- |
9 |
3-37042537-G-C |
c.299G>C |
p.Arg100Pro |
Missense |
3/19 |
- |
4 |
3-37042537-G-A |
c.299G>A |
p.Arg100Gln |
Missense |
3/19 |
- |
7 |
3-37042539-G-A |
c.301G>A |
p.Gly101Ser |
Missense |
3/19 |
- |
1 |
3-37042541-T-G |
c.303T>G |
p.Gly101Gly |
Synonymous |
3/19 |
- |
1 |
3-37042542-G-A |
c.304G>A |
p.Glu102Lys |
Missense |
3/19 |
- |
3 |
3-37042543-A-C |
c.305A>C |
p.Glu102Ala |
Missense |
3/19 |
- |
1 |
3-37042544-G-A |
c.306G>A |
p.Glu102Glu |
Synonymous |
3/19 |
- |
1 |
3-37042544-G-T |
c.306G>T |
p.Glu102Asp |
Missense |
3/19 |
- |
2 |
3-37042545-G-A |
c.306+1G>A |
- |
IntronicSNV |
- |
3/18 |
2 |
3-37042548-A-G |
c.306+4A>G |
- |
IntronicSNV |
- |
3/18 |
1 |
3-37043230-G-A |
c.306+686G>A |
- |
IntronicSNV |
- |
3/18 |
1 |
3-37043256-G-A |
c.306+712G>A |
- |
IntronicSNV |
- |
3/18 |
1 |
3-37044489-A-T |
c.307-1403A>T |
- |
IntronicSNV |
- |
3/18 |
8 |
3-37045863-C-A |
c.307-29C>A |
- |
IntronicSNV |
- |
3/18 |
3 |
3-37045873-A-G |
c.307-19A>G |
- |
IntronicSNV |
- |
3/18 |
1 |
3-37045892-G-C |
c.307G>C |
p.Ala103Pro |
Missense |
4/19 |
- |
1 |
3-37045894-CTTTGGCCAGC-C |
c.309_318del |
p.Leu104* |
Frameshift |
4/19 |
- |
1 |
3-37045896-TT-T |
c.311del |
p.Leu104Trpfs*4 |
Frameshift |
4/19 |
- |
1 |
3-37045903-C-G |
c.318C>G |
p.Ser106Arg |
Missense |
4/19 |
- |
1 |
3-37045905-ATA-A |
c.320_321del |
p.Ile107Lysfs*14 |
Frameshift |
4/19 |
- |
1 |
3-37045905-T-G |
c.320T>G |
p.Ile107Arg |
Missense |
4/19 |
- |
6 |
3-37045909-C-G |
c.324C>G |
p.Ser108Arg |
Missense |
4/19 |
- |
1 |
3-37045912-T-G |
c.327T>G |
p.His109Gln |
Missense |
4/19 |
- |
1 |
3-37045916-G-C |
c.331G>C |
p.Ala111Pro |
Missense |
4/19 |
- |
1 |
3-37045917-C-A |
c.332C>A |
p.Ala111Asp |
Missense |
4/19 |
- |
1 |
3-37045917-C-T |
c.332C>T |
p.Ala111Val |
Missense |
4/19 |
- |
6 |
3-37045918-CTC-C |
c.333_334del |
p.His112Cysfs*9 |
Frameshift |
4/19 |
- |
2 |
3-37045919-CA-GC |
c.334_335delinsGC |
p.His112Ala |
Missense |
4/19 |
- |
1 |
3-37045919-C-G |
c.334C>G |
p.His112Asp |
Missense |
4/19 |
- |
2 |
3-37045921-T-A |
c.336T>A |
p.His112Gln |
Missense |
4/19 |
- |
2 |
3-37045921-T-G |
c.336T>G |
p.His112Gln |
Missense |
4/19 |
- |
2 |
3-37045926-CT-TG |
c.341_342delinsTG |
p.Thr114Met |
Missense |
4/19 |
- |
1 |
3-37045930-T-TTA |
c.345_346insTA |
p.Thr116* |
Nonsense |
4/19 |
- |
1 |
3-37045931-TA-T |
c.346del |
p.Thr116Glnfs*20 |
Frameshift |
4/19 |
- |
1 |
3-37045931-A-AA |
c.346dup |
p.Thr116Asnfs*6 |
Frameshift |
4/19 |
- |
1 |
3-37045931-A-G |
c.346A>G |
p.Thr116Ala |
Missense |
4/19 |
- |
1 |
3-37045932-C-A |
c.347C>A |
p.Thr116Lys |
Missense |
4/19 |
- |
2 |
3-37045932-C-G |
c.347C>G |
p.Thr116Arg |
Missense |
4/19 |
- |
1 |
3-37045933-A-C |
c.348A>C |
p.Thr116Thr |
Synonymous |
4/19 |
- |
1 |
3-37045933-A-T |
c.348A>T |
p.Thr116Thr |
Synonymous |
4/19 |
- |
1 |
3-37045933-A-G |
c.348A>G |
p.Thr116Thr |
Synonymous |
4/19 |
- |
1 |
3-37045935-C-G |
c.350C>G |
p.Thr117Arg |
Missense |
4/19 |
- |
5 |
3-37045935-C-T |
c.350C>T |
p.Thr117Met |
Missense |
4/19 |
- |
37 |
3-37045937-A-G |
c.352A>G |
p.Lys118Glu |
Missense |
4/19 |
- |
1 |
3-37045949-GGA-AGC |
c.364_366delinsAGC |
p.Gly122Ser |
Missense |
4/19 |
- |
2 |
3-37045953-A-G |
c.368A>G |
p.Lys123Arg |
Missense |
4/19 |
- |
1 |
3-37045959-C-A |
c.374C>A |
p.Ala125Glu |
Missense |
4/19 |
- |
3 |
3-37045961-TA-GC |
c.376_377delinsGC |
p.Tyr126Ala |
Missense |
4/19 |
- |
1 |
3-37045961-T-A |
c.376T>A |
p.Tyr126Asn |
Missense |
4/19 |
- |
2 |
3-37045964-AG-GA |
c.379_380delinsGA |
p.Arg127Glu |
Missense |
4/19 |
- |
1 |
3-37045965-G-A |
c.380G>A |
p.Arg127Lys |
Missense |
4/19 |
- |
1 |
3-37045966-G-A |
c.380+1G>A |
- |
IntronicSNV |
- |
4/18 |
1 |
3-37048481-G-A |
c.381-1G>A |
- |
IntronicSNV |
- |
4/18 |
1 |
3-37048482-A-ATG |
c.381_382insTG |
p.Ala128Trpfs*9 |
SpliceAcceptorInsertion |
5/19 |
- |
1 |
3-37048483-G-C |
c.382G>C |
p.Ala128Pro |
Missense |
5/19 |
- |
4 |
3-37048483-AG-A |
c.382del |
p.Ala128Glnfs*8 |
Frameshift |
5/19 |
- |
1 |
3-37048484-GCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGG-G |
c.383_441del |
p.Ala128Aspfs*24 |
SpliceAcceptorDeletion |
5/19 |
- |
1 |
3-37048489-TA-GC |
c.388_389delinsGC |
p.Tyr130Ala |
Missense |
5/19 |
- |
1 |
3-37048489-T-C |
c.388T>C |
p.Tyr130His |
Missense |
5/19 |
- |
1 |
3-37048490-A-T |
c.389A>T |
p.Tyr130Phe |
Missense |
5/19 |
- |
1 |
3-37048490-A-G |
c.389A>G |
p.Tyr130Cys |
Missense |
5/19 |
- |
1 |
3-37048493-C-A |
c.392C>A |
p.Ser131* |
Nonsense |
5/19 |
- |
1 |
3-37048493-C-G |
c.392C>G |
p.Ser131* |
Nonsense |
5/19 |
- |
2 |
3-37048495-G-C |
c.394G>C |
p.Asp132His |
Missense |
5/19 |
- |
14 |
3-37048502-A-G |
c.401A>G |
p.Lys134Arg |
Missense |
5/19 |
- |
1 |
3-37048503-A-T |
c.402A>T |
p.Lys134Asn |
Missense |
5/19 |
- |
1 |
3-37048503-A-C |
c.402A>C |
p.Lys134Asn |
Missense |
5/19 |
- |
1 |
3-37048509-A-AA |
c.408dup |
p.Ala137Serfs*4 |
Frameshift |
5/19 |
- |
1 |
3-37048514-CC-C |
c.413del |
p.Pro138Leufs*22 |
Frameshift |
5/19 |
- |
1 |
3-37048522-C-G |
c.421C>G |
p.Pro141Ala |
Missense |
5/19 |
- |
2 |
3-37048532-G-A |
c.431G>A |
p.Gly144Asp |
Missense |
5/19 |
- |
1 |
3-37048537-C-T |
c.436C>T |
p.Gln146* |
Nonsense |
5/19 |
- |
1 |
3-37048539-A-G |
c.438A>G |
p.Gln146Gln |
Synonymous |
5/19 |
- |
1 |
3-37048541-G-GT |
c.440_441insT |
p.Thr148Aspfs*24 |
Frameshift |
5/19 |
- |
1 |
3-37048541-GGGACCCAG-G |
c.440_447del |
p.Gly147Aspfs*22 |
Frameshift |
5/19 |
- |
1 |
3-37048546-C-T |
c.445C>T |
p.Gln149* |
Nonsense |
5/19 |
- |
1 |
3-37048550-T-C |
c.449T>C |
p.Ile150Thr |
Missense |
5/19 |
- |
1 |
3-37048551-C-G |
c.450C>G |
p.Ile150Met |
Missense |
5/19 |
- |
1 |
3-37048554-G-A |
c.453G>A |
p.Thr151Thr |
Synonymous |
5/19 |
- |
2 |
3-37048555-G-T |
c.453+1G>T |
- |
IntronicSNV |
- |
5/18 |
1 |
3-37048556-T-C |
c.453+2T>C |
- |
IntronicSNV |
- |
5/18 |
1 |
3-37048556-T-G |
c.453+2T>G |
- |
IntronicSNV |
- |
5/18 |
1 |
3-37048633-A-G |
c.453+79A>G |
- |
IntronicSNV |
- |
5/18 |
5 |
3-37049098-T-C |
c.453+544T>C |
- |
IntronicSNV |
- |
5/18 |
1 |
3-37049250-AC-A |
c.453+696del |
- |
IntronicDeletion |
- |
5/18 |
1 |
3-37049271-CT-C |
c.453+717del |
- |
IntronicDeletion |
- |
5/18 |
2 |
3-37050292-A-G |
c.454-13A>G |
- |
IntronicSNV |
- |
5/18 |
1 |
3-37050304-G-A |
c.454-1G>A |
- |
IntronicSNV |
- |
5/18 |
5 |
3-37050304-G-C |
c.454-1G>C |
- |
IntronicSNV |
- |
5/18 |
1 |
3-37050304-G-T |
c.454-1G>T |
- |
IntronicSNV |
- |
5/18 |
1 |
3-37050305-G-A |
c.454G>A |
p.Val152Met |
Missense |
6/19 |
- |
1 |
3-37050307-G-GTTCA |
c.456_457insTTCA |
p.Glu153Phefs*20 |
Frameshift |
6/19 |
- |
1 |
3-37050312-GA-G |
c.461del |
p.Asp154Alafs*6 |
Frameshift |
6/19 |
- |
1 |
3-37050313-C-T |
c.462C>T |
p.Asp154Asp |
Synonymous |
6/19 |
- |
1 |
3-37050314-CC-C |
c.463del |
p.Leu155Phefs*5 |
Frameshift |
6/19 |
- |
1 |
3-37050315-T-G |
c.464T>G |
p.Leu155Arg |
Missense |
6/19 |
- |
3 |
3-37050320-T-G |
c.469T>G |
p.Tyr157Asp |
Missense |
6/19 |
- |
1 |
3-37050320-TA-CT |
c.469_470delinsCT |
p.Tyr157Leu |
Missense |
6/19 |
- |
1 |
3-37050320-TA-GC |
c.469_470delinsGC |
p.Tyr157Ala |
Missense |
6/19 |
- |
2 |
3-37050320-TT-T |
c.469del |
p.Tyr157Thrfs*3 |
Frameshift |
6/19 |
- |
1 |
3-37050320-T-TC |
c.469_470insC |
p.Tyr157Serfs*15 |
Frameshift |
6/19 |
- |
1 |
3-37050321-A-T |
c.470A>T |
p.Tyr157Phe |
Missense |
6/19 |
- |
1 |
3-37050321-A-C |
c.470A>C |
p.Tyr157Ser |
Missense |
6/19 |
- |
1 |
3-37050323-A-G |
c.472A>G |
p.Asn158Asp |
Missense |
6/19 |
- |
1 |
3-37050324-AA-A |
c.473del |
p.Asn158Thrfs*2 |
Frameshift |
6/19 |
- |
1 |
3-37050325-C-T |
c.474C>T |
p.Asn158Asn |
Synonymous |
6/19 |
- |
2 |
3-37050330-C-T |
c.479C>T |
p.Ala160Val |
Missense |
6/19 |
- |
1 |
3-37050332-ACG-GAC |
c.481_483delinsGAC |
p.Thr161Asp |
Missense |
6/19 |
- |
1 |
3-37050335-AG-GA |
c.484_485delinsGA |
p.Arg162Glu |
Missense |
6/19 |
- |
1 |
3-37050339-AG-A |
c.488del |
p.Arg163Lysfs*4 |
Frameshift |
6/19 |
- |
1 |
3-37050341-A-G |
c.490A>G |
p.Lys164Glu |
Missense |
6/19 |
- |
1 |
3-37050343-A-C |
c.492A>C |
p.Lys164Asn |
Missense |
6/19 |
- |
1 |
3-37050344-AG-A |
c.493del |
p.Ala165Leufs*2 |
Frameshift |
6/19 |
- |
1 |
3-37050348-T-A |
c.497T>A |
p.Leu166* |
Nonsense |
6/19 |
- |
1 |
3-37050349-A-C |
c.498A>C |
p.Leu166Phe |
Missense |
6/19 |
- |
2 |
3-37050352-A-T |
c.501A>T |
p.Lys167Asn |
Missense |
6/19 |
- |
1 |
3-37050352-A-C |
c.501A>C |
p.Lys167Asn |
Missense |
6/19 |
- |
1 |
3-37050352-A-AT |
c.501_502insT |
p.Asn168* |
Nonsense |
6/19 |
- |
1 |
3-37050358-CAA-C |
c.507_508del |
p.Ser170* |
Frameshift |
6/19 |
- |
1 |
3-37050365-G-A |
c.514G>A |
p.Glu172Lys |
Missense |
6/19 |
- |
1 |
3-37050369-TAT-T |
c.518_519del |
p.Tyr173Trpfs*18 |
Frameshift |
6/19 |
- |
1 |
3-37050373-GG-G |
c.522del |
p.Ile176Phefs*26 |
Frameshift |
6/19 |
- |
1 |
3-37050376-A-T |
c.525A>T |
p.Lys175Asn |
Missense |
6/19 |
- |
1 |
3-37050376-A-C |
c.525A>C |
p.Lys175Asn |
Missense |
6/19 |
- |
1 |
3-37050390-T-A |
c.539T>A |
p.Val180Asp |
Missense |
6/19 |
- |
1 |
3-37050394-C-G |
c.543C>G |
p.Gly181Gly |
Synonymous |
6/19 |
- |
1 |
3-37050395-AG-GA |
c.544_545delinsGA |
p.Arg182Glu |
Missense |
6/19 |
- |
1 |
3-37050395-A-G |
c.544A>G |
p.Arg182Gly |
Missense |
6/19 |
- |
5 |
3-37050396-G-A |
c.545G>A |
p.Arg182Lys |
Missense |
6/19 |
- |
1 |
3-37050397-G-A |
c.545+1G>A |
- |
IntronicSNV |
- |
6/18 |
3 |
3-37050397-G-T |
c.545+1G>T |
- |
IntronicSNV |
- |
6/18 |
1 |
3-37050398-T-A |
c.545+2T>A |
- |
IntronicSNV |
- |
6/18 |
1 |
3-37050398-T-C |
c.545+2T>C |
- |
IntronicSNV |
- |
6/18 |
1 |
3-37050399-TA-T |
c.545+3del |
- |
IntronicDeletion |
- |
6/18 |
1 |
3-37050399-A-G |
c.545+3A>G |
- |
IntronicSNV |
- |
6/18 |
3 |
3-37050439-C-G |
c.545+43C>G |
- |
IntronicSNV |
- |
6/18 |
1 |
3-37050468-T-A |
c.545+72T>A |
- |
IntronicSNV |
- |
6/18 |
1 |
3-37053120-T-C |
c.546-191T>C |
- |
IntronicSNV |
- |
6/18 |
6 |
3-37053309-A-G |
c.546-2A>G |
- |
IntronicSNV |
- |
6/18 |
3 |
3-37053313-A-G |
c.548A>G |
p.Tyr183Cys |
Missense |
7/19 |
- |
1 |
3-37053316-C-A |
c.551C>A |
p.Ser184* |
Nonsense |
7/19 |
- |
1 |
3-37053318-G-C |
c.553G>C |
p.Val185Leu |
Missense |
7/19 |
- |
1 |
3-37053318-G-T |
c.553G>T |
p.Val185Leu |
Missense |
7/19 |
- |
1 |
3-37053319-T-G |
c.554T>G |
p.Val185Gly |
Missense |
7/19 |
- |
3 |
3-37053325-A-C |
c.560A>C |
p.Asn187Thr |
Missense |
7/19 |
- |
1 |
3-37053337-G-T |
c.572G>T |
p.Ser191Ile |
Missense |
7/19 |
- |
2 |
3-37053342-T-C |
c.577T>C |
p.Ser193Pro |
Missense |
7/19 |
- |
1 |
3-37053343-C-T |
c.578C>T |
p.Ser193Leu |
Missense |
7/19 |
- |
1 |
3-37053343-C-G |
c.578C>G |
p.Ser193* |
Nonsense |
7/19 |
- |
1 |
3-37053348-A-T |
c.583A>T |
p.Lys195* |
Nonsense |
7/19 |
- |
1 |
3-37053353-AA-A |
c.588del |
p.Lys196Asnfs*6 |
Frameshift |
7/19 |
- |
2 |
3-37053354-G-T |
c.588+1G>T |
- |
IntronicSNV |
- |
7/18 |
3 |
3-37053354-G-A |
c.588+1G>A |
- |
IntronicSNV |
- |
7/18 |
2 |
3-37053355-T-A |
c.588+2T>A |
- |
IntronicSNV |
- |
7/18 |
1 |
3-37053356-TAAGT-T |
c.588+3_588+6del |
- |
IntronicDeletion |
- |
7/18 |
1 |
3-37053358-G-C |
c.588+5G>C |
- |
IntronicSNV |
- |
7/18 |
1 |
3-37053358-G-A |
c.588+5G>A |
- |
IntronicSNV |
- |
7/18 |
1 |
3-37053500-A-G |
c.589-2A>G |
- |
IntronicSNV |
- |
7/18 |
5 |
3-37053500-A-C |
c.589-2A>C |
- |
IntronicSNV |
- |
7/18 |
1 |
3-37053508-G-C |
c.595G>C |
p.Glu199Gln |
Missense |
8/19 |
- |
2 |
3-37053508-G-T |
c.595G>T |
p.Glu199* |
Nonsense |
8/19 |
- |
1 |
3-37053510-AGA-A |
c.597_598del |
p.Glu199Aspfs*4 |
Frameshift |
8/19 |
- |
2 |
3-37053517-AG-A |
c.604del |
p.Ala202Leufs*27 |
Frameshift |
8/19 |
- |
1 |
3-37053523-G-C |
c.610G>C |
p.Val204Leu |
Missense |
8/19 |
- |
1 |
3-37053526-A-AA |
c.613dup |
p.Arg205Lysfs*21 |
Frameshift |
8/19 |
- |
1 |
3-37053542-C-T |
c.629C>T |
p.Ala210Val |
Missense |
8/19 |
- |
1 |
3-37053550-G-T |
c.637G>T |
p.Val213Leu |
Missense |
8/19 |
- |
2 |
3-37053550-G-A |
c.637G>A |
p.Val213Met |
Missense |
8/19 |
- |
7 |
3-37053562-C-T |
c.649C>T |
p.Arg217Cys |
Missense |
8/19 |
- |
13 |
3-37053568-A-C |
c.655A>C |
p.Ile219Leu |
Missense |
8/19 |
- |
31 |
3-37053568-A-G |
c.655A>G |
p.Ile219Val |
Missense |
8/19 |
- |
100 |
3-37053568-A-T |
c.655A>T |
p.Ile219Phe |
Missense |
8/19 |
- |
28 |
3-37053570-C-G |
c.657C>G |
p.Ile219Met |
Missense |
8/19 |
- |
1 |
3-37053578-AA-A |
c.665del |
p.Asn222Metfs*7 |
Frameshift |
8/19 |
- |
3 |
3-37053581-C-A |
c.668C>A |
p.Ala223Asp |
Missense |
8/19 |
- |
1 |
3-37053586-TA-T |
c.673del |
p.Ser225Valfs*4 |
Frameshift |
8/19 |
- |
1 |
3-37053586-AGT-TGA |
c.673_675delinsTGA |
p.Ser225* |
Nonsense |
8/19 |
- |
1 |
3-37053589-C-T |
c.676C>T |
p.Arg226* |
Nonsense |
8/19 |
- |
20 |
3-37053590-G-T |
c.677G>T |
p.Arg226Leu |
Missense |
8/19 |
- |
9 |
3-37053590-G-A |
c.677G>A |
p.Arg226Gln |
Missense |
8/19 |
- |
21 |
3-37053590-G-C |
c.677G>C |
p.Arg226Pro |
Missense |
8/19 |
- |
1 |
3-37053591-G-T |
c.677+1G>T |
- |
IntronicSNV |
- |
8/18 |
1 |
3-37053591-G-A |
c.677+1G>A |
- |
IntronicSNV |
- |
8/18 |
1 |
3-37053593-A-G |
c.677+3A>G |
- |
IntronicSNV |
- |
8/18 |
4 |
3-37055922-G-C |
c.678-1G>C |
- |
IntronicSNV |
- |
8/18 |
2 |
3-37055924-AGAACTGATAGAAATTGGATGTGAGGATAAAACCCTAGCCTTCAAAATGAATGGTTACAT-A |
c.679_737del |
p.Glu227Ilefs*60 |
InFrameDeletion |
9/19 |
- |
5 |
3-37055928-T-C |
c.683T>C |
p.Leu228Pro |
Missense |
9/19 |
- |
1 |
3-37055932-TA-T |
c.687del |
p.Ile229Metfs*10 |
Frameshift |
9/19 |
- |
1 |
3-37055933-G-T |
c.688G>T |
p.Glu230* |
Nonsense |
9/19 |
- |
1 |
3-37055945-G-C |
c.700G>C |
p.Glu234Gln |
Missense |
9/19 |
- |
1 |
3-37055946-A-G |
c.701A>G |
p.Glu234Gly |
Missense |
9/19 |
- |
1 |
3-37055947-G-A |
c.702G>A |
p.Glu234Glu |
Synonymous |
9/19 |
- |
1 |
3-37055966-A-G |
c.721A>G |
p.Lys241Glu |
Missense |
9/19 |
- |
1 |
3-37055967-A-G |
c.722A>G |
p.Lys241Arg |
Missense |
9/19 |
- |
1 |
3-37055976-G-T |
c.731G>T |
p.Gly244Val |
Missense |
9/19 |
- |
3 |
3-37055976-G-A |
c.731G>A |
p.Gly244Asp |
Missense |
9/19 |
- |
10 |
3-37055984-T-G |
c.739T>G |
p.Ser247Ala |
Missense |
9/19 |
- |
1 |
3-37055984-T-C |
c.739T>C |
p.Ser247Pro |
Missense |
9/19 |
- |
4 |
3-37056000-C-T |
c.755C>T |
p.Ser252Leu |
Missense |
9/19 |
- |
1 |
3-37056000-C-A |
c.755C>A |
p.Ser252* |
Nonsense |
9/19 |
- |
6 |
3-37056021-T-C |
c.776T>C |
p.Leu259Ser |
Missense |
9/19 |
- |
1 |
3-37056024-T-G |
c.779T>G |
p.Leu260Arg |
Missense |
9/19 |
- |
2 |
3-37056027-TTCAT-T |
c.782_785del |
p.Phe261Serfs*6 |
Frameshift |
9/19 |
- |
1 |
3-37056035-C-T |
c.790C>T |
p.His264Tyr |
Missense |
9/19 |
- |
1 |
3-37056035-C-CC |
c.790dup |
p.His264Profs*43 |
SpliceDonorInsertion |
- |
- |
1 |
3-37056036-CG-C |
c.790+1del |
- |
IntronicDeletion |
- |
9/18 |
1 |
3-37056036-G-C |
c.790+1G>C |
- |
IntronicSNV |
- |
9/18 |
1 |
3-37056036-G-A |
c.790+1G>A |
- |
IntronicSNV |
- |
9/18 |
12 |
3-37056036-G-T |
c.790+1G>T |
- |
IntronicSNV |
- |
9/18 |
1 |
3-37056037-T-C |
c.790+2T>C |
- |
IntronicSNV |
- |
9/18 |
1 |
3-37056037-T-TT |
c.790+2dup |
- |
IntronicInsertion |
- |
9/18 |
4 |
3-37056038-A-T |
c.790+3A>T |
- |
IntronicSNV |
- |
9/18 |
1 |
3-37056039-A-T |
c.790+4A>T |
- |
IntronicSNV |
- |
9/18 |
1 |
3-37056040-G-T |
c.790+5G>T |
- |
IntronicSNV |
- |
9/18 |
1 |
3-37056040-G-A |
c.790+5G>A |
- |
IntronicSNV |
- |
9/18 |
1 |
3-37056045-A-G |
c.790+10A>G |
- |
IntronicSNV |
- |
9/18 |
4 |
3-37056990-C-A |
c.790+955C>A |
- |
IntronicSNV |
- |
9/18 |
2 |
3-37057591-C-T |
c.791-1406C>T |
- |
IntronicSNV |
- |
9/18 |
4 |
3-37058509-A-G |
c.791-488A>G |
- |
IntronicSNV |
- |
9/18 |
2 |
3-37058992-T-G |
c.791-5T>G |
- |
IntronicSNV |
- |
9/18 |
1 |
3-37058996-G-C |
c.791-1G>C |
- |
IntronicSNV |
- |
9/18 |
4 |
3-37058997-A-T |
c.791A>T |
p.His264Leu |
Missense |
10/19 |
- |
1 |
3-37058997-A-G |
c.791A>G |
p.His264Arg |
Missense |
10/19 |
- |
2 |
3-37058999-C-A |
c.793C>A |
p.Arg265Ser |
Missense |
10/19 |
- |
4 |
3-37058999-C-T |
c.793C>T |
p.Arg265Cys |
Missense |
10/19 |
- |
31 |
3-37058999-CGT-AAG |
c.793_795delinsAAG |
p.Arg265Lys |
Missense |
10/19 |
- |
1 |
3-37059000-G-C |
c.794G>C |
p.Arg265Pro |
Missense |
10/19 |
- |
3 |
3-37059000-G-A |
c.794G>A |
p.Arg265His |
Missense |
10/19 |
- |
6 |
3-37059008-G-C |
c.802G>C |
p.Glu268Gln |
Missense |
10/19 |
- |
1 |
3-37059009-A-G |
c.803A>G |
p.Glu268Gly |
Missense |
10/19 |
- |
3 |
3-37059012-C-G |
c.806C>G |
p.Ser269* |
Nonsense |
10/19 |
- |
2 |
3-37059014-AACTT-A |
c.808_811del |
p.Thr270Profs*2 |
Frameshift |
10/19 |
- |
1 |
3-37059020-T-G |
c.814T>G |
p.Leu272Val |
Missense |
10/19 |
- |
2 |
3-37059021-T-C |
c.815T>C |
p.Leu272Ser |
Missense |
10/19 |
- |
1 |
3-37059023-AGA-CAT |
c.817_819delinsCAT |
p.Arg273His |
Missense |
10/19 |
- |
1 |
3-37059024-G-T |
c.818G>T |
p.Arg273Ile |
Missense |
10/19 |
- |
1 |
3-37059027-A-G |
c.821A>G |
p.Lys274Arg |
Missense |
10/19 |
- |
1 |
3-37059032-A-AA |
c.826dup |
p.Ile276Asnfs*31 |
Frameshift |
10/19 |
- |
1 |
3-37059038-A-AA |
c.832dup |
p.Thr278Asnfs*29 |
Frameshift |
10/19 |
- |
1 |
3-37059046-T-A |
c.840T>A |
p.Tyr280* |
Nonsense |
10/19 |
- |
1 |
3-37059048-C-T |
c.842C>T |
p.Ala281Val |
Missense |
10/19 |
- |
2 |
3-37059051-C-G |
c.845C>G |
p.Ala282Gly |
Missense |
10/19 |
- |
2 |
3-37059052-C-G |
c.846C>G |
p.Ala282Ala |
Synonymous |
10/19 |
- |
1 |
3-37059055-T-A |
c.849T>A |
p.Tyr283* |
Nonsense |
10/19 |
- |
1 |
3-37059057-T-A |
c.851T>A |
p.Leu284* |
Nonsense |
10/19 |
- |
1 |
3-37059061-C-T |
c.855C>T |
p.Pro285Pro |
Synonymous |
10/19 |
- |
1 |
3-37059062-A-C |
c.856A>C |
p.Lys286Gln |
Missense |
10/19 |
- |
2 |
3-37059062-A-G |
c.856A>G |
p.Lys286Glu |
Missense |
10/19 |
- |
1 |
3-37059064-A-AT |
c.858_859insT |
p.Asn287* |
Nonsense |
10/19 |
- |
1 |
3-37059067-C-T |
c.861C>T |
p.Asn287Asn |
Synonymous |
10/19 |
- |
1 |
3-37059072-CAC-C |
c.866_867del |
p.His289Profs*17 |
Frameshift |
10/19 |
- |
2 |
3-37059076-A-AA |
c.870dup |
p.Phe291Ilefs*16 |
Frameshift |
10/19 |
- |
1 |
3-37059081-CTGTA-C |
c.875_878del |
p.Leu292Profs*4 |
Frameshift |
10/19 |
- |
1 |
3-37059081-T-C |
c.875T>C |
p.Leu292Pro |
Missense |
10/19 |
- |
1 |
3-37059083-T-G |
c.877T>G |
p.Tyr293Asp |
Missense |
10/19 |
- |
2 |
3-37059088-C-G |
c.882C>G |
p.Leu294Leu |
Synonymous |
10/19 |
- |
2 |
3-37059088-C-T |
c.882C>T |
p.Leu294Leu |
Synonymous |
10/19 |
- |
4 |
3-37059089-A-G |
c.883A>G |
p.Ser295Gly |
Missense |
10/19 |
- |
4 |
3-37059089-A-C |
c.883A>C |
p.Ser295Arg |
Missense |
10/19 |
- |
2 |
3-37059090-G-C |
c.884G>C |
p.Ser295Thr |
Missense |
10/19 |
- |
1 |
3-37059090-G-A |
c.884G>A |
p.Ser295Asn |
Missense |
10/19 |
- |
4 |
3-37059090-G-T |
c.884G>T |
p.Ser295Ile |
Missense |
10/19 |
- |
1 |
3-37059092-T-C |
c.884+2T>C |
- |
IntronicSNV |
- |
10/18 |
1 |
3-37059129-G-A |
c.884+39G>A |
- |
IntronicSNV |
- |
10/18 |
1 |
3-37060459-T-C |
c.885-1342T>C |
- |
IntronicSNV |
- |
10/18 |
1 |
3-37061799-A-G |
c.885-2A>G |
- |
IntronicSNV |
- |
10/18 |
1 |
3-37061803-T-G |
c.887T>G |
p.Leu296* |
Nonsense |
11/19 |
- |
1 |
3-37061812-G-GC |
c.896_897insC |
p.Pro300Serfs*7 |
Frameshift |
11/19 |
- |
1 |
3-37061814-C-T |
c.898C>T |
p.Pro300Ser |
Missense |
11/19 |
- |
1 |
3-37061817-C-CC |
c.901dup |
p.Gln301Profs*6 |
Frameshift |
11/19 |
- |
1 |
3-37061817-C-T |
c.901C>T |
p.Gln301* |
Nonsense |
11/19 |
- |
4 |
3-37061820-AA-GC |
c.904_905delinsGC |
p.Asn302Ala |
Missense |
11/19 |
- |
2 |
3-37061824-T-A |
c.908T>A |
p.Val303Glu |
Missense |
11/19 |
- |
1 |
3-37061826-G-GG |
c.910dup |
p.Asp304Glyfs*3 |
Frameshift |
11/19 |
- |
1 |
3-37061826-G-C |
c.910G>C |
p.Asp304His |
Missense |
11/19 |
- |
1 |
3-37061827-A-G |
c.911A>G |
p.Asp304Gly |
Missense |
11/19 |
- |
2 |
3-37061827-A-T |
c.911A>T |
p.Asp304Val |
Missense |
11/19 |
- |
2 |
3-37061834-T-G |
c.918T>G |
p.Asn306Lys |
Missense |
11/19 |
- |
1 |
3-37061834-T-A |
c.918T>A |
p.Asn306Lys |
Missense |
11/19 |
- |
1 |
3-37061836-T-A |
c.920T>A |
p.Val307Glu |
Missense |
11/19 |
- |
1 |
3-37061839-A-C |
c.923A>C |
p.His308Pro |
Missense |
11/19 |
- |
1 |
3-37061841-C-T |
c.925C>T |
p.Pro309Ser |
Missense |
11/19 |
- |
1 |
3-37061841-C-G |
c.925C>G |
p.Pro309Ala |
Missense |
11/19 |
- |
1 |
3-37061850-C-A |
c.934C>A |
p.His312Asn |
Missense |
11/19 |
- |
1 |
3-37061861-C-G |
c.945C>G |
p.His315Gln |
Missense |
11/19 |
- |
1 |
3-37061865-C-A |
c.949C>A |
p.Leu317Met |
Missense |
11/19 |
- |
2 |
3-37061865-C-G |
c.949C>G |
p.Leu317Val |
Missense |
11/19 |
- |
1 |
3-37061870-CG-TA |
c.954_955delinsTA |
p.Glu319Lys |
Missense |
11/19 |
- |
1 |
3-37061870-AC-A |
c.954del |
p.His318Glnfs*49 |
Frameshift |
11/19 |
- |
1 |
3-37061871-G-A |
c.955G>A |
p.Glu319Lys |
Missense |
11/19 |
- |
1 |
3-37061878-G-T |
c.962G>T |
p.Ser321Ile |
Missense |
11/19 |
- |
1 |
3-37061883-C-A |
c.967C>A |
p.Leu323Met |
Missense |
11/19 |
- |
1 |
3-37061890-G-A |
c.974G>A |
p.Arg325Gln |
Missense |
11/19 |
- |
1 |
3-37061893-T-C |
c.977T>C |
p.Val326Ala |
Missense |
11/19 |
- |
2 |
3-37061895-C-T |
c.979C>T |
p.Gln327* |
Nonsense |
11/19 |
- |
2 |
3-37061897-GC-TT |
c.981_982delinsTT |
p.Gln327_Gln328delinsHis* |
MultiAAMissense |
11/19 |
- |
1 |
3-37061901-C-A |
c.985C>A |
p.His329Asn |
Missense |
11/19 |
- |
1 |
3-37061902-A-C |
c.986A>C |
p.His329Pro |
Missense |
11/19 |
- |
6 |
3-37061904-CATC-C |
c.988_990del |
p.Ile330del |
InFrameDeletion |
11/19 |
- |
3 |
3-37061908-GA-G |
c.992del |
p.Glu331Glyfs*36 |
Frameshift |
11/19 |
- |
1 |
3-37061913-CAAGC-C |
c.997_1000del |
p.Lys333Serfs*33 |
Frameshift |
11/19 |
- |
2 |
3-37061923-G-A |
c.1007G>A |
p.Gly336Asp |
Missense |
11/19 |
- |
1 |
3-37061925-TC-CG |
c.1009_1010delinsCG |
p.Ser337Arg |
Missense |
11/19 |
- |
1 |
3-37061927-CC-C |
c.1011del |
p.Asn338Ilefs*29 |
Frameshift |
11/19 |
- |
1 |
3-37061929-A-G |
c.1013A>G |
p.Asn338Ser |
Missense |
11/19 |
- |
3 |
3-37061937-AG-GA |
c.1021_1022delinsGA |
p.Arg341Glu |
Missense |
11/19 |
- |
1 |
3-37061939-GG-G |
c.1023del |
p.Met342Cysfs*25 |
Frameshift |
11/19 |
- |
1 |
3-37061940-GA-G |
c.1024del |
p.Met342Cysfs*25 |
Frameshift |
11/19 |
- |
2 |
3-37061944-A-G |
c.1028A>G |
p.Tyr343Cys |
Missense |
11/19 |
- |
1 |
3-37061953-A-G |
c.1037A>G |
p.Gln346Arg |
Missense |
11/19 |
- |
2 |
3-37061954-G-T |
c.1038G>T |
p.Gln346His |
Missense |
11/19 |
- |
2 |
3-37061954-G-A |
c.1038G>A |
p.Gln346Gln |
Synonymous |
11/19 |
- |
1 |
3-37061954-G-C |
c.1038G>C |
p.Gln346His |
Missense |
11/19 |
- |
1 |
3-37062040-T-C |
c.1038+86T>C |
- |
IntronicSNV |
- |
11/18 |
4 |
3-37062040-T-G |
c.1038+86T>G |
- |
IntronicSNV |
- |
11/18 |
2 |
3-37062854-C-T |
c.1038+900C>T |
- |
IntronicSNV |
- |
11/18 |
2 |
3-37062959-G-T |
c.1038+1005G>T |
- |
IntronicSNV |
- |
11/18 |
1 |
3-37067050-A-T |
c.1039-78A>T |
- |
IntronicSNV |
- |
11/18 |
1 |
3-37067050-A-G |
c.1039-78A>G |
- |
IntronicSNV |
- |
11/18 |
2 |
3-37067097-A-T |
c.1039-31A>T |
- |
IntronicSNV |
- |
11/18 |
1 |
3-37067120-T-A |
c.1039-8T>A |
- |
IntronicSNV |
- |
11/18 |
3 |
3-37067123-T-G |
c.1039-5T>G |
- |
IntronicSNV |
- |
11/18 |
1 |
3-37067126-A-T |
c.1039-2A>T |
- |
IntronicSNV |
- |
11/18 |
1 |
3-37067128-GAC-G |
c.1039_1040del |
p.Thr347Phefs*14 |
SpliceAcceptorDeletion |
12/19 |
- |
2 |
3-37067129-C-A |
c.1040C>A |
p.Thr347Asn |
Missense |
12/19 |
- |
1 |
3-37067139-A-T |
c.1050A>T |
p.Pro350Pro |
Synonymous |
12/19 |
- |
1 |
3-37067139-A-C |
c.1050A>C |
p.Pro350Pro |
Synonymous |
12/19 |
- |
1 |
3-37067139-A-G |
c.1050A>G |
p.Pro350Pro |
Synonymous |
12/19 |
- |
1 |
3-37067139-CA-C |
c.1050del |
p.Gly351Aspfs*16 |
Frameshift |
12/19 |
- |
1 |
3-37067156-C-T |
c.1067C>T |
p.Ser356Phe |
Missense |
12/19 |
- |
1 |
3-37067171-A-G |
c.1082A>G |
p.Lys361Arg |
Missense |
12/19 |
- |
1 |
3-37067179-A-C |
c.1090A>C |
p.Thr364Pro |
Missense |
12/19 |
- |
1 |
3-37067189-C-A |
c.1100C>A |
p.Thr367Asn |
Missense |
12/19 |
- |
1 |
3-37067190-CC-C |
c.1101del |
p.Ser368Argfs*33 |
Frameshift |
12/19 |
- |
1 |
3-37067192-C-T |
c.1103C>T |
p.Ser368Leu |
Missense |
12/19 |
- |
2 |
3-37067195-C-T |
c.1106C>T |
p.Ser369Phe |
Missense |
12/19 |
- |
1 |
3-37067218-A-G |
c.1129A>G |
p.Lys377Glu |
Missense |
12/19 |
- |
1 |
3-37067219-A-C |
c.1130A>C |
p.Lys377Thr |
Missense |
12/19 |
- |
1 |
3-37067219-A-G |
c.1130A>G |
p.Lys377Arg |
Missense |
12/19 |
- |
1 |
3-37067225-A-G |
c.1136A>G |
p.Tyr379Cys |
Missense |
12/19 |
- |
2 |
3-37067229-C-G |
c.1140C>G |
p.Ala380Ala |
Synonymous |
12/19 |
- |
1 |
3-37067229-C-A |
c.1140C>A |
p.Ala380Ala |
Synonymous |
12/19 |
- |
1 |
3-37067229-C-T |
c.1140C>T |
p.Ala380Ala |
Synonymous |
12/19 |
- |
1 |
3-37067231-A-G |
c.1142A>G |
p.His381Arg |
Missense |
12/19 |
- |
1 |
3-37067236-A-G |
c.1147A>G |
p.Met383Val |
Missense |
12/19 |
- |
1 |
3-37067237-T-C |
c.1148T>C |
p.Met383Thr |
Missense |
12/19 |
- |
2 |
3-37067240-T-A |
c.1151T>A |
p.Val384Asp |
Missense |
12/19 |
- |
38 |
3-37067242-C-T |
c.1153C>T |
p.Arg385Cys |
Missense |
12/19 |
- |
10 |
3-37067251-T-TT |
c.1162dup |
p.Ser388Phefs*7 |
Frameshift |
12/19 |
- |
1 |
3-37067252-C-CT |
c.1163_1164insT |
p.Arg389Profs*6 |
Frameshift |
12/19 |
- |
1 |
3-37067253-C-T |
c.1164C>T |
p.Ser388Ser |
Synonymous |
12/19 |
- |
1 |
3-37067254-CG-TA |
c.1165_1166delinsTA |
p.Arg389* |
Nonsense |
12/19 |
- |
2 |
3-37067254-C-A |
c.1165C>A |
p.Arg389Arg |
Synonymous |
12/19 |
- |
1 |
3-37067254-C-T |
c.1165C>T |
p.Arg389Trp |
Missense |
12/19 |
- |
2 |
3-37067255-G-A |
c.1166G>A |
p.Arg389Gln |
Missense |
12/19 |
- |
3 |
3-37067264-AA-A |
c.1175del |
p.Lys392Serfs*9 |
Frameshift |
12/19 |
- |
1 |
3-37067264-A-C |
c.1175A>C |
p.Lys392Thr |
Missense |
12/19 |
- |
1 |
3-37067266-C-A |
c.1177C>A |
p.Leu393Ile |
Missense |
12/19 |
- |
1 |
3-37067267-T-C |
c.1178T>C |
p.Leu393Pro |
Missense |
12/19 |
- |
1 |
3-37067275-T-A |
c.1186T>A |
p.Phe396Ile |
Missense |
12/19 |
- |
1 |
3-37067281-C-T |
c.1192C>T |
p.Gln398* |
Nonsense |
12/19 |
- |
1 |
3-37067287-C-G |
c.1198C>G |
p.Leu400Val |
Missense |
12/19 |
- |
1 |
3-37067293-A-T |
c.1204A>T |
p.Lys402* |
Nonsense |
12/19 |
- |
1 |
3-37067306-G-A |
c.1217G>A |
p.Ser406Asn |
Missense |
12/19 |
- |
5 |
3-37067308-C-T |
c.1219C>T |
p.Gln407* |
Nonsense |
12/19 |
- |
2 |
3-37067314-CCAGGCCATTGTCACAGAGGATAAGACAGATATTTC-C |
c.1225_1259del |
p.Gln409* |
Frameshift |
12/19 |
- |
1 |
3-37067314-C-T |
c.1225C>T |
p.Gln409* |
Nonsense |
12/19 |
- |
2 |
3-37067315-A-C |
c.1226A>C |
p.Gln409Pro |
Missense |
12/19 |
- |
1 |
3-37067315-CAG-C |
c.1226_1227del |
p.Gln409Argfs*7 |
Frameshift |
12/19 |
- |
1 |
3-37067327-C-T |
c.1238C>T |
p.Thr413Ile |
Missense |
12/19 |
- |
1 |
3-37067329-AG-A |
c.1240del |
p.Glu414Argfs*77 |
Frameshift |
12/19 |
- |
1 |
3-37067329-G-A |
c.1240G>A |
p.Glu414Lys |
Missense |
12/19 |
- |
1 |
3-37067335-A-T |
c.1246A>T |
p.Lys416* |
Nonsense |
12/19 |
- |
1 |
3-37067335-A-G |
c.1246A>G |
p.Lys416Glu |
Missense |
12/19 |
- |
2 |
3-37067341-AGA-A |
c.1252_1253del |
p.Asp418Tyrfs*3 |
Frameshift |
12/19 |
- |
1 |
3-37067348-C-G |
c.1259C>G |
p.Ser420Cys |
Missense |
12/19 |
- |
1 |
3-37067356-AG-GC |
c.1267_1268delinsGC |
p.Arg423Ala |
Missense |
12/19 |
- |
1 |
3-37067357-G-C |
c.1268G>C |
p.Arg423Thr |
Missense |
12/19 |
- |
1 |
3-37067360-C-G |
c.1271C>G |
p.Ala424Gly |
Missense |
12/19 |
- |
1 |
3-37067362-TA-T |
c.1273del |
p.Arg425Glyfs*66 |
Frameshift |
12/19 |
- |
1 |
3-37067365-C-T |
c.1276C>T |
p.Gln426* |
Nonsense |
12/19 |
- |
7 |
3-37067379-G-T |
c.1290G>T |
p.Glu430Asp |
Missense |
12/19 |
- |
1 |
3-37067379-G-C |
c.1290G>C |
p.Glu430Asp |
Missense |
12/19 |
- |
1 |
3-37067383-C-G |
c.1294C>G |
p.Leu432Val |
Missense |
12/19 |
- |
1 |
3-37067384-T-C |
c.1295T>C |
p.Leu432Pro |
Missense |
12/19 |
- |
1 |
3-37067386-G-C |
c.1297G>C |
p.Glu433Gln |
Missense |
12/19 |
- |
1 |
3-37067399-CC-C |
c.1310del |
p.Pro437Leufs*54 |
Frameshift |
12/19 |
- |
1 |
3-37067410-G-A |
c.1321G>A |
p.Ala441Thr |
Missense |
12/19 |
- |
6 |
3-37067411-C-T |
c.1322C>T |
p.Ala441Val |
Missense |
12/19 |
- |
1 |
3-37067414-C-T |
c.1325C>T |
p.Ala442Val |
Missense |
12/19 |
- |
1 |
3-37067416-A-G |
c.1327A>G |
p.Lys443Glu |
Missense |
12/19 |
- |
1 |
3-37067416-A-C |
c.1327A>C |
p.Lys443Gln |
Missense |
12/19 |
- |
2 |
3-37067432-GAG-G |
c.1343_1344del |
p.Glu448Glyfs*30 |
Frameshift |
12/19 |
- |
1 |
3-37067437-G-GG |
c.1348dup |
p.Asp450Glyfs*29 |
Frameshift |
12/19 |
- |
1 |
3-37067437-G-T |
c.1348G>T |
p.Asp450Tyr |
Missense |
12/19 |
- |
1 |
3-37067440-A-G |
c.1351A>G |
p.Thr451Ala |
Missense |
12/19 |
- |
1 |
3-37067443-A-T |
c.1354A>T |
p.Thr452Ser |
Missense |
12/19 |
- |
3 |
3-37067443-A-G |
c.1354A>G |
p.Thr452Ala |
Missense |
12/19 |
- |
2 |
3-37067447-A-AA |
c.1358dup |
p.Thr455Aspfs*24 |
Frameshift |
12/19 |
- |
1 |
3-37067447-A-C |
c.1358A>C |
p.Lys453Thr |
Missense |
12/19 |
- |
1 |
3-37067448-G-C |
c.1359G>C |
p.Lys453Asn |
Missense |
12/19 |
- |
1 |
3-37067448-G-A |
c.1359G>A |
p.Lys453Lys |
Synonymous |
12/19 |
- |
1 |
3-37067449-G-C |
c.1360G>C |
p.Gly454Arg |
Missense |
12/19 |
- |
3 |
3-37067454-T-A |
c.1365T>A |
p.Thr455Thr |
Synonymous |
12/19 |
- |
1 |
3-37067456-C-A |
c.1367C>A |
p.Ser456* |
Nonsense |
12/19 |
- |
1 |
3-37067468-A-C |
c.1379A>C |
p.Glu460Ala |
Missense |
12/19 |
- |
2 |
3-37067470-A-T |
c.1381A>T |
p.Lys461* |
Nonsense |
12/19 |
- |
5 |
3-37067470-A-G |
c.1381A>G |
p.Lys461Glu |
Missense |
12/19 |
- |
1 |
3-37067474-G-A |
c.1385G>A |
p.Arg462Lys |
Missense |
12/19 |
- |
1 |
3-37067474-G-T |
c.1385G>T |
p.Arg462Ile |
Missense |
12/19 |
- |
1 |
3-37067476-G-C |
c.1387G>C |
p.Gly463Arg |
Missense |
12/19 |
- |
1 |
3-37067476-G-A |
c.1387G>A |
p.Gly463Arg |
Missense |
12/19 |
- |
1 |
3-37067477-G-A |
c.1388G>A |
p.Gly463Glu |
Missense |
12/19 |
- |
1 |
3-37067477-G-T |
c.1388G>T |
p.Gly463Val |
Missense |
12/19 |
- |
1 |
3-37067482-A-AA |
c.1393dup |
p.Thr465Asnfs*14 |
Frameshift |
12/19 |
- |
1 |
3-37067489-AG-A |
c.1400del |
p.Ser467Thrfs*24 |
Frameshift |
12/19 |
- |
1 |
3-37067499-G-C |
c.1409+1G>C |
- |
IntronicSNV |
- |
12/18 |
1 |
3-37068079-T-C |
c.1409+581T>C |
- |
IntronicSNV |
- |
12/18 |
2 |
3-37068079-T-G |
c.1409+581T>G |
- |
IntronicSNV |
- |
12/18 |
2 |
3-37068969-G-A |
c.1410-1306G>A |
- |
IntronicSNV |
- |
12/18 |
6 |
3-37069845-TC-T |
c.1410-430del |
- |
IntronicDeletion |
- |
12/18 |
1 |
3-37070106-C-T |
c.1410-169C>T |
- |
IntronicSNV |
- |
12/18 |
8 |
3-37070221-C-T |
c.1410-54C>T |
- |
IntronicSNV |
- |
12/18 |
1 |
3-37070276-AAAGAGA-A |
c.1411_1416del |
p.Lys471_Arg472del |
InFrameDeletion |
13/19 |
- |
1 |
3-37070276-AAAGA-A |
c.1411_1414del |
p.Lys471Aspfs*19 |
SpliceAcceptorDeletion |
13/19 |
- |
3 |
3-37070318-G-C |
c.1453G>C |
p.Asp485His |
Missense |
13/19 |
- |
1 |
3-37070322-C-T |
c.1457C>T |
p.Ser486Phe |
Missense |
13/19 |
- |
1 |
3-37070324-C-T |
c.1459C>T |
p.Arg487* |
Nonsense |
13/19 |
- |
11 |
3-37070325-G-C |
c.1460G>C |
p.Arg487Pro |
Missense |
13/19 |
- |
1 |
3-37070325-G-A |
c.1460G>A |
p.Arg487Gln |
Missense |
13/19 |
- |
2 |
3-37070329-AGGAAA-A |
c.1464_1468del |
p.Lys488Asnfs*13 |
Frameshift |
13/19 |
- |
3 |
3-37070353-C-CTAAA |
c.1488_1489insTAAA |
p.Arg497* |
Nonsense |
13/19 |
- |
1 |
3-37070354-CC-C |
c.1489del |
p.Arg497Glyfs*11 |
Frameshift |
13/19 |
- |
1 |
3-37070354-C-G |
c.1489C>G |
p.Arg497Gly |
Missense |
13/19 |
- |
1 |
3-37070354-C-CC |
c.1489dup |
p.Arg497Profs*6 |
Frameshift |
13/19 |
- |
5 |
3-37070354-CG-AA |
c.1489_1490delinsAA |
p.Arg497Lys |
Missense |
13/19 |
- |
1 |
3-37070365-TCAT-T |
c.1500_1502del |
p.Ile501del |
InFrameDeletion |
13/19 |
- |
2 |
3-37070378-TA-T |
c.1513del |
p.Ser505Valfs*3 |
Frameshift |
13/19 |
- |
1 |
3-37070382-T-C |
c.1517T>C |
p.Val506Ala |
Missense |
13/19 |
- |
7 |
3-37070393-C-T |
c.1528C>T |
p.Gln510* |
Nonsense |
13/19 |
- |
1 |
3-37070402-AATTAATGAGCA-A |
c.1537_1547del |
p.Ile513Glyfs*3 |
Frameshift |
13/19 |
- |
1 |
3-37070411-C-CC |
c.1546dup |
p.Gln516Profs*4 |
Frameshift |
13/19 |
- |
1 |
3-37070414-G-T |
c.1549G>T |
p.Gly517* |
Nonsense |
13/19 |
- |
1 |
3-37070421-A-G |
c.1556A>G |
p.Glu519Gly |
Missense |
13/19 |
- |
1 |
3-37070424-G-A |
c.1558+1G>A |
- |
IntronicSNV |
- |
13/18 |
2 |
3-37070424-G-T |
c.1558+1G>T |
- |
IntronicSNV |
- |
13/18 |
1 |
3-37070434-G-A |
c.1558+11G>A |
- |
IntronicSNV |
- |
13/18 |
1 |
3-37070437-G-A |
c.1558+14G>A |
- |
IntronicSNV |
- |
13/18 |
6 |
3-37074668-A-G |
c.1558+4245A>G |
- |
IntronicSNV |
- |
13/18 |
1 |
3-37081675-A-G |
c.1559-2A>G |
- |
IntronicSNV |
- |
13/18 |
1 |
3-37081675-A-T |
c.1559-2A>T |
- |
IntronicSNV |
- |
13/18 |
4 |
3-37081675-A-C |
c.1559-2A>C |
- |
IntronicSNV |
- |
13/18 |
1 |
3-37081676-G-C |
c.1559-1G>C |
- |
IntronicSNV |
- |
13/18 |
1 |
3-37081678-T-TAAAA |
c.1560_1561insAAAA |
p.Leu521Lysfs*8 |
SpliceAcceptorInsertion |
14/19 |
- |
1 |
3-37081679-C-A |
c.1561C>A |
p.Leu521Ile |
Missense |
14/19 |
- |
2 |
3-37081691-T-G |
c.1573T>G |
p.Leu525Val |
Missense |
14/19 |
- |
1 |
3-37081694-C-T |
c.1576C>T |
p.His526Tyr |
Missense |
14/19 |
- |
1 |
3-37081713-G-T |
c.1595G>T |
p.Gly532Val |
Missense |
14/19 |
- |
1 |
3-37081720-TG-T |
c.1602del |
p.Asn535Ilefs*56 |
Frameshift |
14/19 |
- |
1 |
3-37081727-C-T |
c.1609C>T |
p.Gln537* |
Nonsense |
14/19 |
- |
2 |
3-37081729-AG-A |
c.1611del |
p.Gln537Hisfs*54 |
Frameshift |
14/19 |
- |
1 |
3-37081730-T-G |
c.1612T>G |
p.Trp538Gly |
Missense |
14/19 |
- |
1 |
3-37081732-G-A |
c.1614G>A |
p.Trp538* |
Nonsense |
14/19 |
- |
1 |
3-37081739-G-A |
c.1621G>A |
p.Ala541Thr |
Missense |
14/19 |
- |
3 |
3-37081742-C-T |
c.1624C>T |
p.Gln542* |
Nonsense |
14/19 |
- |
1 |
3-37081743-A-T |
c.1625A>T |
p.Gln542Leu |
Missense |
14/19 |
- |
4 |
3-37081748-C-T |
c.1630C>T |
p.Gln544* |
Nonsense |
14/19 |
- |
1 |
3-37081751-A-G |
c.1633A>G |
p.Thr545Ala |
Missense |
14/19 |
- |
1 |
3-37081755-A-G |
c.1637A>G |
p.Lys546Arg |
Missense |
14/19 |
- |
1 |
3-37081761-TACCTTCT-T |
c.1643_1649del |
p.Tyr548Serfs*41 |
Frameshift |
14/19 |
- |
1 |
3-37081764-T-C |
c.1646T>C |
p.Leu549Pro |
Missense |
14/19 |
- |
4 |
3-37081767-T-C |
c.1649T>C |
p.Leu550Pro |
Missense |
14/19 |
- |
2 |
3-37081770-A-C |
c.1652A>C |
p.Asn551Thr |
Missense |
14/19 |
- |
3 |
3-37081770-A-G |
c.1652A>G |
p.Asn551Ser |
Missense |
14/19 |
- |
1 |
3-37081775-ACC-TAA |
c.1657_1659delinsTAA |
p.Thr553* |
Nonsense |
14/19 |
- |
1 |
3-37081783-T-C |
c.1665T>C |
p.Leu555Leu |
Synonymous |
14/19 |
- |
1 |
3-37081785-G-T |
c.1667G>T |
p.Ser556Ile |
Missense |
14/19 |
- |
2 |
3-37081785-G-C |
c.1667G>C |
p.Ser556Thr |
Missense |
14/19 |
- |
1 |
3-37081785-G-A |
c.1667G>A |
p.Ser556Asn |
Missense |
14/19 |
- |
1 |
3-37081786-GG-G |
c.1667+1del |
- |
IntronicDeletion |
- |
14/18 |
3 |
3-37081786-G-A |
c.1667+1G>A |
- |
IntronicSNV |
- |
14/18 |
1 |
3-37081787-T-C |
c.1667+2T>C |
- |
IntronicSNV |
- |
14/18 |
1 |
3-37082874-T-C |
c.1668-885T>C |
- |
IntronicSNV |
- |
14/18 |
1 |
3-37083740-A-T |
c.1668-19A>T |
- |
IntronicSNV |
- |
14/18 |
5 |
3-37083740-A-G |
c.1668-19A>G |
- |
IntronicSNV |
- |
14/18 |
11 |
3-37083757-A-G |
c.1668-2A>G |
- |
IntronicSNV |
- |
14/18 |
1 |
3-37083758-G-A |
c.1668-1G>A |
- |
IntronicSNV |
- |
14/18 |
3 |
3-37083763-G-T |
c.1672G>T |
p.Glu558* |
Nonsense |
15/19 |
- |
3 |
3-37083767-T-G |
c.1676T>G |
p.Leu559Arg |
Missense |
15/19 |
- |
3 |
3-37083770-TT-T |
c.1679del |
p.Phe560Serfs*31 |
Frameshift |
15/19 |
- |
1 |
3-37083772-T-C |
c.1681T>C |
p.Tyr561His |
Missense |
15/19 |
- |
2 |
3-37083772-T-TT |
c.1681dup |
p.Tyr561Leufs*7 |
Frameshift |
15/19 |
- |
2 |
3-37083774-C-G |
c.1683C>G |
p.Tyr561* |
Nonsense |
15/19 |
- |
1 |
3-37083775-C-T |
c.1684C>T |
p.Gln562* |
Nonsense |
15/19 |
- |
2 |
3-37083780-A-ATAAA |
c.1689_1690insTAAA |
p.Leu564* |
Nonsense |
15/19 |
- |
1 |
3-37083780-A-G |
c.1689A>G |
p.Ile563Met |
Missense |
15/19 |
- |
1 |
3-37083780-A-AA |
c.1689dup |
p.Leu564Thrfs*4 |
Frameshift |
15/19 |
- |
1 |
3-37083781-ACTCA-A |
c.1690_1693del |
p.Leu564Phefs*26 |
Frameshift |
15/19 |
- |
2 |
3-37083784-A-T |
c.1693A>T |
p.Ile565Phe |
Missense |
15/19 |
- |
2 |
3-37083804-TT-T |
c.1713del |
p.Phe571Leufs*20 |
Frameshift |
15/19 |
- |
1 |
3-37083812-T-C |
c.1721T>C |
p.Leu574Pro |
Missense |
15/19 |
- |
4 |
3-37083815-G-A |
c.1724G>A |
p.Arg575Lys |
Missense |
15/19 |
- |
2 |
3-37083822-G-A |
c.1731G>A |
p.Ser577Ser |
Synonymous |
15/19 |
- |
16 |
3-37083822-G-C |
c.1731G>C |
p.Ser577Ser |
Synonymous |
15/19 |
- |
9 |
3-37083822-G-T |
c.1731G>T |
p.Ser577Ser |
Synonymous |
15/19 |
- |
7 |
3-37083823-G-C |
c.1731+1G>C |
- |
IntronicSNV |
- |
15/18 |
1 |
3-37083823-G-A |
c.1731+1G>A |
- |
IntronicSNV |
- |
15/18 |
3 |
3-37083823-G-T |
c.1731+1G>T |
- |
IntronicSNV |
- |
15/18 |
1 |
3-37083826-A-G |
c.1731+4A>G |
- |
IntronicSNV |
- |
15/18 |
1 |
3-37083840-TT-T |
c.1731+18del |
- |
IntronicDeletion |
- |
15/18 |
1 |
3-37088746-A-T |
c.1732-264A>T |
- |
IntronicSNV |
- |
15/18 |
1 |
3-37088991-T-A |
c.1732-19T>A |
- |
IntronicSNV |
- |
15/18 |
1 |
3-37089008-A-T |
c.1732-2A>T |
- |
IntronicSNV |
- |
15/18 |
3 |
3-37089009-G-A |
c.1732-1G>A |
- |
IntronicSNV |
- |
15/18 |
2 |
3-37089011-A-G |
c.1733A>G |
p.Glu578Gly |
Missense |
16/19 |
- |
2 |
3-37089011-GAGCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGG-G |
c.1734_1792del |
p.Glu578Aspfs*12 |
Unclassified |
16/19 |
- |
1 |
3-37089013-GCCAGCACCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGGAC-G |
c.1735_1793del |
p.Pro579Argfs*11 |
InFrameDeletion |
16/19 |
- |
1 |
3-37089020-C-T |
c.1742C>T |
p.Pro581Leu |
Missense |
16/19 |
- |
7 |
3-37089021-G-A |
c.1743G>A |
p.Pro581Pro |
Synonymous |
16/19 |
- |
2 |
3-37089021-CG-C |
c.1743del |
p.Leu582Serfs*9 |
Frameshift |
16/19 |
- |
1 |
3-37089022-GCTC-G |
c.1744_1746del |
p.Leu582del |
InFrameDeletion |
16/19 |
- |
1 |
3-37089022-C-G |
c.1744C>G |
p.Leu582Val |
Missense |
16/19 |
- |
4 |
3-37089022-C-T |
c.1744C>T |
p.Leu582Phe |
Missense |
16/19 |
- |
2 |
3-37089031-C-A |
c.1753C>A |
p.Leu585Ile |
Missense |
16/19 |
- |
1 |
3-37089031-CT-GC |
c.1753_1754delinsGC |
p.Leu585Ala |
Missense |
16/19 |
- |
1 |
3-37089032-T-G |
c.1754T>G |
p.Leu585Arg |
Missense |
16/19 |
- |
1 |
3-37089034-G-C |
c.1756G>C |
p.Ala586Pro |
Missense |
16/19 |
- |
2 |
3-37089036-C-CC |
c.1758dup |
p.Met587Hisfs*6 |
Frameshift |
16/19 |
- |
3 |
3-37089041-T-C |
c.1763T>C |
p.Leu588Pro |
Missense |
16/19 |
- |
3 |
3-37089044-C-A |
c.1766C>A |
p.Ala589Asp |
Missense |
16/19 |
- |
2 |
3-37089044-C-T |
c.1766C>T |
p.Ala589Val |
Missense |
16/19 |
- |
1 |
3-37089049-G-GG |
c.1771dup |
p.Asp591Glyfs*2 |
Frameshift |
16/19 |
- |
2 |
3-37089049-AG-A |
c.1771del |
p.Asp591Ilefs*25 |
Frameshift |
16/19 |
- |
1 |
3-37089050-A-G |
c.1772A>G |
p.Asp591Gly |
Missense |
16/19 |
- |
1 |
3-37089050-GATAG-G |
c.1772_1775del |
p.Asp591Valfs*24 |
Frameshift |
16/19 |
- |
1 |
3-37089061-GAG-G |
c.1783_1784del |
p.Ser595Trpfs*14 |
Frameshift |
16/19 |
- |
1 |
3-37089077-A-G |
c.1799A>G |
p.Glu600Gly |
Missense |
16/19 |
- |
1 |
3-37089080-A-G |
c.1802A>G |
p.Asp601Gly |
Missense |
16/19 |
- |
2 |
3-37089086-C-G |
c.1808C>G |
p.Pro603Arg |
Missense |
16/19 |
- |
1 |
3-37089088-A-T |
c.1810A>T |
p.Lys604* |
Nonsense |
16/19 |
- |
1 |
3-37089091-G-C |
c.1813G>C |
p.Glu605Gln |
Missense |
16/19 |
- |
1 |
3-37089092-A-C |
c.1814A>C |
p.Glu605Ala |
Missense |
16/19 |
- |
1 |
3-37089098-T-A |
c.1820T>A |
p.Leu607His |
Missense |
16/19 |
- |
6 |
3-37089101-C-A |
c.1823C>A |
p.Ala608Asp |
Missense |
16/19 |
- |
3 |
3-37089110-T-C |
c.1832T>C |
p.Ile611Thr |
Missense |
16/19 |
- |
1 |
3-37089111-T-TT |
c.1833dup |
p.Val612Cysfs*2 |
Frameshift |
16/19 |
- |
2 |
3-37089113-GTTG-G |
c.1835_1837del |
p.Val612del |
InFrameDeletion |
16/19 |
- |
1 |
3-37089115-G-T |
c.1837G>T |
p.Glu613* |
Nonsense |
16/19 |
- |
1 |
3-37089121-C-CC |
c.1843dup |
p.Leu615Profs*6 |
Frameshift |
16/19 |
- |
1 |
3-37089130-AA-GT |
c.1852_1853delinsGT |
p.Lys618Val |
Missense |
16/19 |
- |
1 |
3-37089130-AA-GC |
c.1852_1853delinsGC |
p.Lys618Ala |
Missense |
16/19 |
- |
26 |
3-37089130-AA-TG |
c.1852_1853delinsTG |
p.Lys618Trp |
Missense |
16/19 |
- |
1 |
3-37089130-GAAG-G |
c.1852_1854del |
p.Lys618del |
InFrameDeletion |
16/19 |
- |
29 |
3-37089130-A-G |
c.1852A>G |
p.Lys618Glu |
Missense |
16/19 |
- |
8 |
3-37089130-A-T |
c.1852A>T |
p.Lys618* |
Nonsense |
16/19 |
- |
2 |
3-37089131-A-T |
c.1853A>T |
p.Lys618Met |
Missense |
16/19 |
- |
1 |
3-37089131-A-G |
c.1853A>G |
p.Lys618Arg |
Missense |
16/19 |
- |
2 |
3-37089131-A-C |
c.1853A>C |
p.Lys618Thr |
Missense |
16/19 |
- |
14 |
3-37089133-GG-G |
c.1855del |
p.Ala619Leufs*18 |
Frameshift |
16/19 |
- |
3 |
3-37089136-G-A |
c.1858G>A |
p.Glu620Lys |
Missense |
16/19 |
- |
1 |
3-37089141-TG-T |
c.1863del |
p.Met621Ilefs*16 |
Frameshift |
16/19 |
- |
2 |
3-37089141-G-GT |
c.1863_1864insT |
p.Leu622Serfs*10 |
Frameshift |
16/19 |
- |
1 |
3-37089142-C-A |
c.1864C>A |
p.Leu622Ile |
Missense |
16/19 |
- |
1 |
3-37089143-T-A |
c.1865T>A |
p.Leu622His |
Missense |
16/19 |
- |
6 |
3-37089144-TT-T |
c.1866del |
p.Ala623Glnfs*14 |
Frameshift |
16/19 |
- |
1 |
3-37089148-G-C |
c.1870G>C |
p.Asp624His |
Missense |
16/19 |
- |
1 |
3-37089153-T-G |
c.1875T>G |
p.Tyr625* |
Nonsense |
16/19 |
- |
1 |
3-37089154-T-C |
c.1876T>C |
p.Phe626Leu |
Missense |
16/19 |
- |
1 |
3-37089166-AATTGA-A |
c.1888_1892del |
p.Ile630* |
Frameshift |
16/19 |
- |
1 |
3-37089168-T-TT |
c.1890dup |
p.Asp631* |
Nonsense |
16/19 |
- |
4 |
3-37089171-AT-A |
c.1893del |
p.Asp631Glufs*6 |
Frameshift |
16/19 |
- |
1 |
3-37089174-G-C |
c.1896G>C |
p.Glu632Asp |
Missense |
16/19 |
- |
2 |
3-37089174-G-A |
c.1896G>A |
p.Glu632Glu |
Synonymous |
16/19 |
- |
1 |
3-37089175-G-T |
c.1896+1G>T |
- |
IntronicSNV |
- |
16/18 |
1 |
3-37089176-T-C |
c.1896+2T>C |
- |
IntronicSNV |
- |
16/18 |
1 |
3-37089179-G-A |
c.1896+5G>A |
- |
IntronicSNV |
- |
16/18 |
1 |
3-37090006-A-G |
c.1897-2A>G |
- |
IntronicSNV |
- |
16/18 |
1 |
3-37090009-GAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGA-G |
c.1898_1956del |
p.Glu633Alafs*11 |
InFrameDeletion |
17/19 |
- |
2 |
3-37090011-G-A |
c.1900G>A |
p.Gly634Arg |
Missense |
17/19 |
- |
1 |
3-37090016-C-G |
c.1905C>G |
p.Asn635Lys |
Missense |
17/19 |
- |
1 |
3-37090018-T-C |
c.1907T>C |
p.Leu636Pro |
Missense |
17/19 |
- |
2 |
3-37090023-G-A |
c.1912G>A |
p.Gly638Arg |
Missense |
17/19 |
- |
1 |
3-37090029-C-A |
c.1918C>A |
p.Pro640Thr |
Missense |
17/19 |
- |
3 |
3-37090029-C-T |
c.1918C>T |
p.Pro640Ser |
Missense |
17/19 |
- |
8 |
3-37090030-C-T |
c.1919C>T |
p.Pro640Leu |
Missense |
17/19 |
- |
7 |
3-37090037-G-GG |
c.1926dup |
p.Ile643Aspfs*2 |
Frameshift |
17/19 |
- |
1 |
3-37090039-T-TG |
c.1928_1929insG |
p.Ile643Metfs*2 |
Frameshift |
17/19 |
- |
1 |
3-37090048-A-G |
c.1937A>G |
p.Tyr646Cys |
Missense |
17/19 |
- |
9 |
3-37090050-G-A |
c.1939G>A |
p.Val647Met |
Missense |
17/19 |
- |
1 |
3-37090053-C-T |
c.1942C>T |
p.Pro648Ser |
Missense |
17/19 |
- |
8 |
3-37090054-C-T |
c.1943C>T |
p.Pro648Leu |
Missense |
17/19 |
- |
3 |
3-37090069-T-G |
c.1958T>G |
p.Leu653Arg |
Missense |
17/19 |
- |
3 |
3-37090070-G-T |
c.1959G>T |
p.Leu653Leu |
Synonymous |
17/19 |
- |
4 |
3-37090072-C-T |
c.1961C>T |
p.Pro654Leu |
Missense |
17/19 |
- |
2 |
3-37090074-A-G |
c.1963A>G |
p.Ile655Val |
Missense |
17/19 |
- |
4 |
3-37090075-T-C |
c.1964T>C |
p.Ile655Thr |
Missense |
17/19 |
- |
1 |
3-37090086-C-T |
c.1975C>T |
p.Arg659* |
Nonsense |
17/19 |
- |
10 |
3-37090087-G-A |
c.1976G>A |
p.Arg659Gln |
Missense |
17/19 |
- |
7 |
3-37090087-G-C |
c.1976G>C |
p.Arg659Pro |
Missense |
17/19 |
- |
7 |
3-37090087-G-T |
c.1976G>T |
p.Arg659Leu |
Missense |
17/19 |
- |
4 |
3-37090095-A-C |
c.1984A>C |
p.Thr662Pro |
Missense |
17/19 |
- |
3 |
3-37090099-A-C |
c.1988A>C |
p.Glu663Ala |
Missense |
17/19 |
- |
3 |
3-37090099-A-G |
c.1988A>G |
p.Glu663Gly |
Missense |
17/19 |
- |
2 |
3-37090100-G-T |
c.1989G>T |
p.Glu663Asp |
Missense |
17/19 |
- |
5 |
3-37090101-G-A |
c.1989+1G>A |
- |
IntronicSNV |
- |
17/18 |
1 |
3-37090274-C-T |
c.1990-121C>T |
- |
IntronicSNV |
- |
17/18 |
4 |
3-37090394-G-A |
c.1990-1G>A |
- |
IntronicSNV |
- |
17/18 |
2 |
3-37090403-G-A |
c.1998G>A |
p.Trp666* |
Nonsense |
18/19 |
- |
2 |
3-37090409-AA-A |
c.2004del |
p.Glu669Lysfs*114 |
Frameshift |
18/19 |
- |
1 |
3-37090410-G-A |
c.2005G>A |
p.Glu669Lys |
Missense |
18/19 |
- |
1 |
3-37090414-A-G |
c.2009A>G |
p.Lys670Arg |
Missense |
18/19 |
- |
1 |
3-37090424-TT-T |
c.2019del |
p.Phe673Leufs*110 |
Frameshift |
18/19 |
- |
1 |
3-37090425-G-A |
c.2020G>A |
p.Glu674Lys |
Missense |
18/19 |
- |
1 |
3-37090432-T-C |
c.2027T>C |
p.Leu676Pro |
Missense |
18/19 |
- |
4 |
3-37090432-T-G |
c.2027T>G |
p.Leu676Arg |
Missense |
18/19 |
- |
2 |
3-37090443-T-C |
c.2038T>C |
p.Cys680Arg |
Missense |
18/19 |
- |
3 |
3-37090443-ATGCGCTATGTTCTATTCCATCCGGAA-A |
c.2038_2063del |
p.Cys680Alafs*5 |
Frameshift |
18/19 |
- |
1 |
3-37090443-TG-AC |
c.2038_2039delinsAC |
p.Cys680Thr |
Missense |
18/19 |
- |
1 |
3-37090445-C-A |
c.2040C>A |
p.Cys680* |
Nonsense |
18/19 |
- |
2 |
3-37090445-C-T |
c.2040C>T |
p.Cys680Cys |
Synonymous |
18/19 |
- |
2 |
3-37090446-G-A |
c.2041G>A |
p.Ala681Thr |
Missense |
18/19 |
- |
25 |
3-37090447-C-T |
c.2042C>T |
p.Ala681Val |
Missense |
18/19 |
- |
2 |
3-37090449-TAT-T |
c.2044_2045del |
p.Met682Valfs*11 |
Frameshift |
18/19 |
- |
4 |
3-37090455-T-G |
c.2050T>G |
p.Tyr684Asp |
Missense |
18/19 |
- |
1 |
3-37090457-T-G |
c.2052T>G |
p.Tyr684* |
Nonsense |
18/19 |
- |
1 |
3-37090459-C-T |
c.2054C>T |
p.Ser685Phe |
Missense |
18/19 |
- |
1 |
3-37090464-C-T |
c.2059C>T |
p.Arg687Trp |
Missense |
18/19 |
- |
15 |
3-37090471-A-G |
c.2066A>G |
p.Gln689Arg |
Missense |
18/19 |
- |
2 |
3-37090479-T-C |
c.2074T>C |
p.Ser692Pro |
Missense |
18/19 |
- |
1 |
3-37090480-C-T |
c.2075C>T |
p.Ser692Phe |
Missense |
18/19 |
- |
1 |
3-37090481-CTG-C |
c.2076_2077del |
p.Glu693Glyfs*10 |
Frameshift |
18/19 |
- |
1 |
3-37090483-GAGGAGTCGACCCTCTCAGGCCAGCAGGTACAGTGGTGATGCACACTGGCACCCCAGGAC-G |
c.2078_2103+33del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
18/19 |
18/18 |
1 |
3-37090485-GA-TC |
c.2080_2081inv |
p.Glu694Ser |
Missense |
18/19 |
- |
1 |
3-37090485-G-T |
c.2080G>T |
p.Glu694* |
Nonsense |
18/19 |
- |
2 |
3-37090486-A-C |
c.2081A>C |
p.Glu694Ala |
Missense |
18/19 |
- |
3 |
3-37090488-T-C |
c.2083T>C |
p.Ser695Pro |
Missense |
18/19 |
- |
1 |
3-37090494-CC-C |
c.2089del |
p.Leu697Serfs*86 |
Frameshift |
18/19 |
- |
1 |
3-37090497-CTC-C |
c.2092_2093del |
p.Ser698Argfs*5 |
Frameshift |
18/19 |
- |
4 |
3-37090503-C-T |
c.2098C>T |
p.Gln700* |
Nonsense |
18/19 |
- |
1 |
3-37090506-C-T |
c.2101C>T |
p.Gln701* |
Nonsense |
18/19 |
- |
3 |
3-37090506-C-A |
c.2101C>A |
p.Gln701Lys |
Missense |
18/19 |
- |
8 |
3-37090508-G-C |
c.2103G>C |
p.Gln701His |
Missense |
18/19 |
- |
2 |
3-37090508-G-A |
c.2103G>A |
p.Gln701Gln |
Synonymous |
18/19 |
- |
1 |
3-37090509-G-T |
c.2103+1G>T |
- |
IntronicSNV |
- |
18/18 |
2 |
3-37090509-G-C |
c.2103+1G>C |
- |
IntronicSNV |
- |
18/18 |
2 |
3-37090509-G-A |
c.2103+1G>A |
- |
IntronicSNV |
- |
18/18 |
3 |
3-37091976-G-C |
c.2104-1G>C |
- |
IntronicSNV |
- |
18/18 |
1 |
3-37091987-CC-C |
c.2114del |
p.Pro705Leufs*78 |
Frameshift |
19/19 |
- |
2 |
3-37091990-GGCTCCATTCCAAAC-G |
c.2117_2130del |
p.Gly706Valfs*12 |
Frameshift |
19/19 |
- |
1 |
3-37092008-G-T |
c.2135G>T |
p.Trp712Leu |
Missense |
19/19 |
- |
2 |
3-37092013-TG-AC |
c.2140_2141delinsAC |
p.Trp714Thr |
Missense |
19/19 |
- |
1 |
3-37092014-G-A |
c.2141G>A |
p.Trp714* |
Nonsense |
19/19 |
- |
6 |
3-37092015-G-A |
c.2142G>A |
p.Trp714* |
Nonsense |
19/19 |
- |
2 |
3-37092019-G-A |
c.2146G>A |
p.Val716Met |
Missense |
19/19 |
- |
23 |
3-37092019-G-T |
c.2146G>T |
p.Val716Leu |
Missense |
19/19 |
- |
1 |
3-37092022-GG-G |
c.2149del |
p.Glu717Asnfs*66 |
Frameshift |
19/19 |
- |
1 |
3-37092025-C-T |
c.2152C>T |
p.His718Tyr |
Missense |
19/19 |
- |
11 |
3-37092025-CA-TG |
c.2152_2153inv |
p.His718Cys |
Missense |
19/19 |
- |
1 |
3-37092026-A-C |
c.2153A>C |
p.His718Pro |
Missense |
19/19 |
- |
2 |
3-37092026-A-AA |
c.2153dup |
p.His718Glnfs*5 |
Frameshift |
19/19 |
- |
1 |
3-37092028-A-AACAA |
c.2155_2156insACAA |
p.Ile719Asnfs*5 |
Frameshift |
19/19 |
- |
1 |
3-37092030-T-TT |
c.2157dup |
p.Val720Cysfs*3 |
Frameshift |
19/19 |
- |
1 |
3-37092034-T-C |
c.2161T>C |
p.Tyr721His |
Missense |
19/19 |
- |
1 |
3-37092041-C-A |
c.2168C>A |
p.Ala723Asp |
Missense |
19/19 |
- |
2 |
3-37092043-T-A |
c.2170T>A |
p.Leu724Met |
Missense |
19/19 |
- |
1 |
3-37092044-T-G |
c.2171T>G |
p.Leu724Trp |
Missense |
19/19 |
- |
1 |
3-37092046-C-T |
c.2173C>T |
p.Arg725Cys |
Missense |
19/19 |
- |
1 |
3-37092047-G-A |
c.2174G>A |
p.Arg725His |
Missense |
19/19 |
- |
3 |
3-37092053-A-T |
c.2180A>T |
p.His727Leu |
Missense |
19/19 |
- |
1 |
3-37092058-C-G |
c.2185C>G |
p.Leu729Val |
Missense |
19/19 |
- |
2 |
3-37092063-CT-C |
c.2190del |
p.Pro731Leufs*52 |
Frameshift |
19/19 |
- |
1 |
3-37092067-A-G |
c.2194A>G |
p.Lys732Glu |
Missense |
19/19 |
- |
1 |
3-37092067-A-T |
c.2194A>T |
p.Lys732* |
Nonsense |
19/19 |
- |
2 |
3-37092069-AA-A |
c.2196del |
p.Lys732Asnfs*51 |
Frameshift |
19/19 |
- |
1 |
3-37092070-C-T |
c.2197C>T |
p.His733Tyr |
Missense |
19/19 |
- |
1 |
3-37092079-G-T |
c.2206G>T |
p.Glu736* |
Nonsense |
19/19 |
- |
1 |
3-37092083-A-T |
c.2210A>T |
p.Asp737Val |
Missense |
19/19 |
- |
2 |
3-37092086-G-A |
c.2213G>A |
p.Gly738Glu |
Missense |
19/19 |
- |
2 |
3-37092096-TGCAGCTTGC-T |
c.2223_2231del |
p.Gln742_Ala744del |
InFrameDeletion |
19/19 |
- |
1 |
3-37092097-GC-G |
c.2224del |
p.Gln742Serfs*41 |
Frameshift |
19/19 |
- |
1 |
3-37092097-C-T |
c.2224C>T |
p.Gln742* |
Nonsense |
19/19 |
- |
2 |
3-37092109-CCTGCCTGATCTA-C |
c.2236_2247del |
p.Leu746_Leu749del |
InFrameDeletion |
19/19 |
- |
1 |
3-37092110-CT-C |
c.2237del |
p.Leu746Argfs*37 |
Frameshift |
19/19 |
- |
1 |
3-37092112-C-CAGCCTGATACTATATCCTGCAGC |
c.2239_2240insAGCCTGATACTATATCCTGCAGC |
p.Pro747Glnfs*44 |
Frameshift |
19/19 |
- |
1 |
3-37092118-TCTA-T |
c.2245_2247del |
p.Leu749del |
InFrameDeletion |
19/19 |
- |
1 |
3-37092119-T-A |
c.2246T>A |
p.Leu749Gln |
Missense |
19/19 |
- |
3 |
3-37092119-T-C |
c.2246T>C |
p.Leu749Pro |
Missense |
19/19 |
- |
5 |
3-37092123-C-A |
c.2250C>A |
p.Tyr750* |
Nonsense |
19/19 |
- |
1 |
3-37092123-C-G |
c.2250C>G |
p.Tyr750* |
Nonsense |
19/19 |
- |
3 |
3-37092124-A-C |
c.2251A>C |
p.Lys751Gln |
Missense |
19/19 |
- |
2 |
3-37092125-A-G |
c.2252A>G |
p.Lys751Arg |
Missense |
19/19 |
- |
2 |
3-37092125-AAA-A |
c.2252_2253del |
p.Lys751Serfs*3 |
Frameshift |
19/19 |
- |
3 |
3-37092136-A-G |
c.2263A>G |
p.Arg755Gly |
Missense |
19/19 |
- |
1 |
3-37092136-A-T |
c.2263A>T |
p.Arg755Trp |
Missense |
19/19 |
- |
1 |
3-37092138-G-T |
c.2265G>T |
p.Arg755Ser |
Missense |
19/19 |
- |
2 |
3-37092138-G-C |
c.2265G>C |
p.Arg755Ser |
Missense |
19/19 |
- |
2 |
3-37092245-G-T |
c.*101G>T |
- |
3-UTRSNV |
19/19 |
- |
1 |
3-37092245-G-A |
c.*101G>A |
- |
3-UTRSNV |
19/19 |
- |
1 |