3-41241017-C-T |
c.-193C>T |
- |
5_prime_UTR_variant |
1/15 |
- |
1 |
3-41241154-C-G |
c.-56C>G |
- |
5_prime_UTR_variant |
1/15 |
- |
1 |
3-41241993-A-G |
c.-49+832A>G |
- |
intron_variant |
- |
1/14 |
1 |
3-41242338-C-A |
c.-49+1177C>A |
- |
intron_variant |
- |
1/14 |
7 |
3-41242338-C-T |
c.-49+1177C>T |
- |
intron_variant |
- |
1/14 |
7 |
3-41242863-A-G |
c.-49+1702A>G |
- |
intron_variant |
- |
1/14 |
2 |
3-41242863-A-T |
c.-49+1702A>T |
- |
intron_variant |
- |
1/14 |
2 |
3-41243742-T-G |
c.-49+2581T>G |
- |
intron_variant |
- |
1/14 |
8 |
3-41244376-T-G |
c.-49+3215T>G |
- |
intron_variant |
- |
1/14 |
1 |
3-41245731-A-C |
c.-49+4570A>C |
- |
intron_variant |
- |
1/14 |
1 |
3-41245731-A-G |
c.-49+4570A>G |
- |
intron_variant |
- |
1/14 |
1 |
3-41245804-T-C |
c.-49+4643T>C |
- |
intron_variant |
- |
1/14 |
1 |
3-41250129-G-T |
c.-49+8968G>T |
- |
intron_variant |
- |
1/14 |
3 |
3-41250481-G-A |
c.-49+9320G>A |
- |
intron_variant |
- |
1/14 |
1 |
3-41254646-G-T |
c.-48-10866G>T |
- |
IntronicSNV |
- |
1/14 |
2 |
3-41255358-T-G |
c.-48-10154T>G |
- |
IntronicSNV |
- |
1/14 |
2 |
3-41258048-A-G |
c.-48-7464A>G |
- |
IntronicSNV |
- |
1/14 |
2 |
3-41258048-A-T |
c.-48-7464A>T |
- |
IntronicSNV |
- |
1/14 |
2 |
3-41259511-G-A |
c.-48-6001G>A |
- |
IntronicSNV |
- |
1/14 |
1 |
3-41260017-G-A |
c.-48-5495G>A |
- |
IntronicSNV |
- |
1/14 |
3 |
3-41261979-A-G |
c.-48-3533A>G |
- |
IntronicSNV |
- |
1/14 |
7 |
3-41262444-T-C |
c.-48-3068T>C |
- |
IntronicSNV |
- |
1/14 |
10 |
3-41263238-T-C |
c.-48-2274T>C |
- |
IntronicSNV |
- |
1/14 |
1 |
3-41263670-G-A |
c.-48-1842G>A |
- |
IntronicSNV |
- |
1/14 |
1 |
3-41265551-G-C |
c.-9G>C |
- |
5-UTRSNV |
2/15 |
- |
1 |
3-41265560-A-G |
c.1A>G |
p.M1? |
Missense |
2/15 |
- |
1 |
3-41265562-G-T |
c.3G>T |
p.M1? |
Missense |
2/15 |
- |
1 |
3-41265563-G-A |
c.4G>A |
p.A2T |
Missense |
2/15 |
- |
1 |
3-41265563-GCT-AAG |
c.4_6delinsAAG |
p.A2K |
Missense |
2/15 |
- |
1 |
3-41265566-A-G |
c.7A>G |
p.T3A |
Missense |
2/15 |
- |
2 |
3-41265566-A-T |
c.7A>T |
p.T3S |
Missense |
2/15 |
- |
1 |
3-41265567-C-A |
c.8C>A |
p.T3N |
Missense |
2/15 |
- |
1 |
3-41265567-C-T |
c.8C>T |
p.T3I |
Missense |
2/15 |
- |
1 |
3-41265567-C-CT |
c.9dup |
p.Q4Sfs*3 |
Frameshift |
2/15 |
- |
1 |
3-41265568-T-A |
c.9T>A |
p.T3= |
Synonymous |
2/15 |
- |
2 |
3-41265568-T-C |
c.9T>C |
p.T3= |
Synonymous |
2/15 |
- |
2 |
3-41265568-T-G |
c.9T>G |
p.T3= |
Synonymous |
2/15 |
- |
2 |
3-41265569-C-G |
c.10C>G |
p.Q4E |
Missense |
2/15 |
- |
1 |
3-41265569-C-T |
c.10C>T |
p.Q4* |
Nonsense |
2/15 |
- |
3 |
3-41265570-A-T |
c.11A>T |
p.Q4L |
Missense |
2/15 |
- |
1 |
3-41265571-A-T |
c.12A>T |
p.Q4H |
Missense |
2/15 |
- |
1 |
3-41265575-TTTGTGTCATTAAATCTTTAGTTACTGAATTGGGGCTCTGCTTCGTTGCCATTAAGCCAG-T |
c.13+4_13+62del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
- |
2/14 |
1 |
3-41265581-C-G |
c.13+9C>G |
- |
IntronicSNV |
- |
2/14 |
1 |
3-41265639-C-T |
c.13+67C>T |
- |
IntronicSNV |
- |
2/14 |
1 |
3-41265670-T-C |
c.13+98T>C |
- |
IntronicSNV |
- |
2/14 |
1 |
3-41265701-C-T |
c.13+129C>T |
- |
IntronicSNV |
- |
2/14 |
1 |
3-41265703-G-T |
c.13+131G>T |
- |
IntronicSNV |
- |
2/14 |
1 |
3-41266013-A-G |
c.14-4A>G |
- |
IntronicSNV |
- |
2/14 |
2 |
3-41266017-C-G |
c.14C>G |
p.A5G |
Missense |
3/15 |
- |
1 |
3-41266017-C-T |
c.14C>T |
p.A5V |
Missense |
3/15 |
- |
4 |
3-41266017-GCTGATTTGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCAC-G |
c.14_72del |
p.A5Vfs*25 |
Unclassified |
3/15 |
- |
4 |
3-41266018-T-A |
c.15T>A |
p.A5= |
Synonymous |
3/15 |
- |
1 |
3-41266018-T-C |
c.15T>C |
p.A5= |
Synonymous |
3/15 |
- |
1 |
3-41266018-T-G |
c.15T>G |
p.A5= |
Synonymous |
3/15 |
- |
1 |
3-41266019-G-A |
c.16G>A |
p.D6N |
Missense |
3/15 |
- |
1 |
3-41266019-G-C |
c.16G>C |
p.D6H |
Missense |
3/15 |
- |
1 |
3-41266019-TGATTTGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTG-T |
c.17_75del |
p.D6Afs*24 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
3/15 |
- |
7 |
3-41266020-A-G |
c.17A>G |
p.D6G |
Missense |
3/15 |
- |
2 |
3-41266020-A-T |
c.17A>T |
p.D6V |
Missense |
3/15 |
- |
1 |
3-41266021-T-A |
c.18T>A |
p.D6E |
Missense |
3/15 |
- |
1 |
3-41266022-T-C |
c.19T>C |
p.L7= |
Synonymous |
3/15 |
- |
3 |
3-41266022-TTTGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCA-T |
c.19_77del |
p.L7Afs*23 |
InFrameDeletion |
3/15 |
- |
5 |
3-41266024-G-A |
c.21G>A |
p.L7= |
Synonymous |
3/15 |
- |
3 |
3-41266024-G-C |
c.21G>C |
p.L7F |
Missense |
3/15 |
- |
2 |
3-41266024-TGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGC-T |
c.21_79del |
p.M8Tfs*22 |
SpliceDonorDeletion |
3/15 |
- |
1 |
3-41266025-A-G |
c.22A>G |
p.M8V |
Missense |
3/15 |
- |
2 |
3-41266025-GATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCA-G |
c.23_81del |
p.M8Tfs*22 |
InFrameDeletion |
3/15 |
- |
5 |
3-41266024-GATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCA-G |
c.23_81del |
p.M8Tfs*22 |
InFrameDeletion |
3/15 |
- |
6 |
3-41266026-T-C |
c.23T>C |
p.M8T |
Missense |
3/15 |
- |
2 |
3-41266027-G-A |
c.24G>A |
p.M8I |
Missense |
3/15 |
- |
1 |
3-41266028-G-A |
c.25G>A |
p.E9K |
Missense |
3/15 |
- |
2 |
3-41266028-GGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACA-G |
c.26_84del |
p.E9Vfs*21 |
InFrameDeletion |
3/15 |
- |
5 |
3-41266027-GGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACA-G |
c.26_84del |
p.E9Vfs*21 |
InFrameDeletion |
3/15 |
- |
4 |
3-41266029-A-T |
c.26A>T |
p.E9V |
Missense |
3/15 |
- |
1 |
3-41266031-TT-CA |
c.28_29delinsCA |
p.L10Q |
Missense |
3/15 |
- |
1 |
3-41266031-TT-GC |
c.28_29delinsGC |
p.L10A |
Missense |
3/15 |
- |
1 |
3-41266030-GTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTC-G |
c.30_88del |
p.D11Pfs*19 |
InFrameDeletion |
3/15 |
- |
7 |
3-41266033-G-T |
c.30G>T |
p.L10F |
Missense |
3/15 |
- |
1 |
3-41266034-G-A |
c.31G>A |
p.D11N |
Missense |
3/15 |
- |
2 |
3-41266034-GA-CC |
c.31_32delinsCC |
p.D11P |
Missense |
3/15 |
- |
2 |
3-41266034-GGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTA-G |
c.31_89del |
p.D11Pfs*19 |
InFrameDeletion |
3/15 |
- |
1 |
3-41266034-G-T |
c.31G>T |
p.D11Y |
Missense |
3/15 |
- |
1 |
3-41266035-A-C |
c.32A>C |
p.D11A |
Missense |
3/15 |
- |
1 |
3-41266035-A-G |
c.32A>G |
p.D11G |
Missense |
3/15 |
- |
5 |
3-41266036-C-T |
c.33C>T |
p.D11= |
Synonymous |
3/15 |
- |
1 |
3-41266037-A-C |
c.34A>C |
p.M12L |
Missense |
3/15 |
- |
2 |
3-41266037-A-G |
c.34A>G |
p.M12V |
Missense |
3/15 |
- |
3 |
3-41266037-A-T |
c.34A>T |
p.M12L |
Missense |
3/15 |
- |
1 |
3-41266037-AT-GG |
c.34_35delinsGG |
p.M12G |
Missense |
3/15 |
- |
1 |
3-41266037-ATG-GAC |
c.34_36delinsGAC |
p.M12D |
Missense |
3/15 |
- |
1 |
3-41266037-ATG-TTT |
c.34_36delinsTTT |
p.M12F |
Missense |
3/15 |
- |
1 |
3-41266039-G-A |
c.36G>A |
p.M12I |
Missense |
3/15 |
- |
2 |
3-41266039-G-C |
c.36G>C |
p.M12I |
Missense |
3/15 |
- |
1 |
3-41266039-G-T |
c.36G>T |
p.M12I |
Missense |
3/15 |
- |
2 |
3-41266040-G-A |
c.37G>A |
p.A13T |
Missense |
3/15 |
- |
16 |
3-41266040-GC-AT |
c.37_38delinsAT |
p.A13I |
Missense |
3/15 |
- |
2 |
3-41266040-GCC-CAA |
c.37_39delinsCAA |
p.A13Q |
Missense |
3/15 |
- |
1 |
3-41266040-GC-CT |
c.37_38delinsCT |
p.A13L |
Missense |
3/15 |
- |
4 |
3-41266040-GCC-TGG |
c.37_39delinsTGG |
p.A13W |
Missense |
3/15 |
- |
3 |
3-41266040-GC-TG |
c.37_38delinsTG |
p.A13C |
Missense |
3/15 |
- |
3 |
3-41266040-GC-TT |
c.37_38delinsTT |
p.A13F |
Missense |
3/15 |
- |
1 |
3-41266040-G-T |
c.37G>T |
p.A13S |
Missense |
3/15 |
- |
2 |
3-41266041-C-A |
c.38C>A |
p.A13D |
Missense |
3/15 |
- |
1 |
3-41266041-CC-AG |
c.38_39delinsAG |
p.A13E |
Missense |
3/15 |
- |
3 |
3-41266041-C-T |
c.38C>T |
p.A13V |
Missense |
3/15 |
- |
3 |
3-41266041-GCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGAC-G |
c.38_96del |
p.A13Vfs*17 |
SpliceDonorDeletion |
3/15 |
- |
1 |
3-41266042-C-A |
c.39C>A |
p.A13= |
Synonymous |
3/15 |
- |
1 |
3-41266042-CCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACT-C |
c.40_98del |
p.M14Wfs*16 |
InFrameDeletion |
3/15 |
- |
6 |
3-41266042-C-G |
c.39C>G |
p.A13= |
Synonymous |
3/15 |
- |
1 |
3-41266042-C-T |
c.39C>T |
p.A13= |
Synonymous |
3/15 |
- |
1 |
3-41266041-CCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACT-C |
c.40_98del |
p.M14Wfs*16 |
InFrameDeletion |
3/15 |
- |
5 |
3-41266043-A-C |
c.40A>C |
p.M14L |
Missense |
3/15 |
- |
1 |
3-41266043-A-G |
c.40A>G |
p.M14V |
Missense |
3/15 |
- |
1 |
3-41266043-A-T |
c.40A>T |
p.M14L |
Missense |
3/15 |
- |
1 |
3-41266043-AT-CC |
c.40_41delinsCC |
p.M14P |
Missense |
3/15 |
- |
1 |
3-41266043-ATG-GAC |
c.40_42delinsGAC |
p.M14D |
Missense |
3/15 |
- |
1 |
3-41266044-T-A |
c.41T>A |
p.M14K |
Missense |
3/15 |
- |
1 |
3-41266044-T-G |
c.41T>G |
p.M14R |
Missense |
3/15 |
- |
1 |
3-41266045-G-A |
c.42G>A |
p.M14I |
Missense |
3/15 |
- |
1 |
3-41266045-G-C |
c.42G>C |
p.M14I |
Missense |
3/15 |
- |
2 |
3-41266045-G-T |
c.42G>T |
p.M14I |
Missense |
3/15 |
- |
2 |
3-41266044-TGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTG-T |
c.43_101del |
p.E15Nfs*15 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
3/15 |
- |
1 |
3-41266046-G-A |
c.43G>A |
p.E15K |
Missense |
3/15 |
- |
9 |
3-41266046-GAA-CAT |
c.43_45delinsCAT |
p.E15H |
Missense |
3/15 |
- |
1 |
3-41266046-GAA-TGT |
c.43_45delinsTGT |
p.E15C |
Missense |
3/15 |
- |
1 |
3-41266046-G-T |
c.43G>T |
p.E15* |
Nonsense |
3/15 |
- |
4 |
3-41266047-A-G |
c.44A>G |
p.E15G |
Missense |
3/15 |
- |
4 |
3-41266046-GAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGA-G |
c.45_103del |
p.E15Dfs*15 |
InFrameDeletion |
3/15 |
- |
1 |
3-41266048-A-C |
c.45A>C |
p.E15D |
Missense |
3/15 |
- |
1 |
3-41266048-A-G |
c.45A>G |
p.E15= |
Synonymous |
3/15 |
- |
1 |
3-41266049-ACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAAT-A |
c.49_107del |
p.D17Ffs*13 |
InFrameDeletion |
3/15 |
- |
1 |
3-41266049-C-A |
c.46C>A |
p.P16T |
Missense |
3/15 |
- |
1 |
3-41266049-CCA-TTT |
c.46_48delinsTTT |
p.P16F |
Missense |
3/15 |
- |
1 |
3-41266049-CC-TA |
c.46_47delinsTA |
p.P16* |
Nonsense |
3/15 |
- |
1 |
3-41266049-C-G |
c.46C>G |
p.P16A |
Missense |
3/15 |
- |
1 |
3-41266049-C-T |
c.46C>T |
p.P16S |
Missense |
3/15 |
- |
4 |
3-41266050-C-T |
c.47C>T |
p.P16L |
Missense |
3/15 |
- |
7 |
3-41266051-A-C |
c.48A>C |
p.P16= |
Synonymous |
3/15 |
- |
1 |
3-41266051-A-G |
c.48A>G |
p.P16= |
Synonymous |
3/15 |
- |
1 |
3-41266051-A-T |
c.48A>T |
p.P16= |
Synonymous |
3/15 |
- |
1 |
3-41266048-ACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAAT-A |
c.49_107del |
p.D17Ffs*13 |
InFrameDeletion |
3/15 |
- |
6 |
3-41266052-G-A |
c.49G>A |
p.D17N |
Missense |
3/15 |
- |
2 |
3-41266052-GA-TT |
c.49_50delinsTT |
p.D17F |
Missense |
3/15 |
- |
1 |
3-41266052-G-C |
c.49G>C |
p.D17H |
Missense |
3/15 |
- |
1 |
3-41266052-G-T |
c.49G>T |
p.D17Y |
Missense |
3/15 |
- |
1 |
3-41266053-A-C |
c.50A>C |
p.D17A |
Missense |
3/15 |
- |
1 |
3-41266053-A-G |
c.50A>G |
p.D17G |
Missense |
3/15 |
- |
1 |
3-41266054-ACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATT-A |
c.52_110del |
p.R18Wfs*12 |
InFrameDeletion |
3/15 |
- |
5 |
3-41266054-C-T |
c.51C>T |
p.D17= |
Synonymous |
3/15 |
- |
2 |
3-41266055-A-G |
c.52A>G |
p.R18G |
Missense |
3/15 |
- |
1 |
3-41266055-AGA-TGG |
c.52_54delinsTGG |
p.R18W |
Missense |
3/15 |
- |
1 |
3-41266056-AGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCT-A |
c.54_112del |
p.K19Cfs*11 |
SpliceDonorDeletion |
3/15 |
- |
1 |
3-41266056-G-A |
c.53G>A |
p.R18K |
Missense |
3/15 |
- |
1 |
3-41266057-A-C |
c.54A>C |
p.R18S |
Missense |
3/15 |
- |
8 |
3-41266057-A-T |
c.54A>T |
p.R18S |
Missense |
3/15 |
- |
7 |
3-41266058-AAA-GAC |
c.55_57delinsGAC |
p.K19D |
Missense |
3/15 |
- |
1 |
3-41266058-A-G |
c.55A>G |
p.K19E |
Missense |
3/15 |
- |
2 |
3-41266059-A-G |
c.56A>G |
p.K19R |
Missense |
3/15 |
- |
3 |
3-41266059-A-T |
c.56A>T |
p.K19I |
Missense |
3/15 |
- |
1 |
3-41266060-A-C |
c.57A>C |
p.K19N |
Missense |
3/15 |
- |
1 |
3-41266060-A-G |
c.57A>G |
p.K19= |
Synonymous |
3/15 |
- |
3 |
3-41266060-A-T |
c.57A>T |
p.K19N |
Missense |
3/15 |
- |
1 |
3-41266061-AGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATC-A |
c.58_105del |
p.A20_I35del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266061-AGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGC-A |
c.58_116del |
p.A20Hfs*10 |
InFrameDeletion |
3/15 |
- |
6 |
3-41266061-G-A |
c.58G>A |
p.A20T |
Missense |
3/15 |
- |
2 |
3-41266061-GC-CA |
c.58_59delinsCA |
p.A20Q |
Missense |
3/15 |
- |
1 |
3-41266061-GCG-AAC |
c.58_60delinsAAC |
p.A20N |
Missense |
3/15 |
- |
1 |
3-41266061-GCG-CAT |
c.58_60delinsCAT |
p.A20H |
Missense |
3/15 |
- |
1 |
3-41266061-GCG-TGT |
c.58_60delinsTGT |
p.A20C |
Missense |
3/15 |
- |
4 |
3-41266061-GCG-TTT |
c.58_60delinsTTT |
p.A20F |
Missense |
3/15 |
- |
4 |
3-41266061-GC-TG |
c.58_59delinsTG |
p.A20W |
Missense |
3/15 |
- |
5 |
3-41266061-G-T |
c.58G>T |
p.A20S |
Missense |
3/15 |
- |
2 |
3-41266062-C-A |
c.59C>A |
p.A20E |
Missense |
3/15 |
- |
1 |
3-41266062-CG-AC |
c.59_60delinsAC |
p.A20D |
Missense |
3/15 |
- |
6 |
3-41266062-C-T |
c.59C>T |
p.A20V |
Missense |
3/15 |
- |
10 |
3-41266062-GCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCC-G |
c.59_117del |
p.A20Dfs*10 |
InFrameDeletion |
3/15 |
- |
6 |
3-41266063-CGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCA-C |
c.60_118del |
p.A21Yfs*9 |
InFrameDeletion |
3/15 |
- |
6 |
3-41266063-G-A |
c.60G>A |
p.A20= |
Synonymous |
3/15 |
- |
2 |
3-41266063-G-C |
c.60G>C |
p.A20= |
Synonymous |
3/15 |
- |
2 |
3-41266063-G-T |
c.60G>T |
p.A20= |
Synonymous |
3/15 |
- |
2 |
3-41266064-G-A |
c.61G>A |
p.A21T |
Missense |
3/15 |
- |
21 |
3-41266064-GCT-CAA |
c.61_63delinsCAA |
p.A21Q |
Missense |
3/15 |
- |
3 |
3-41266064-GC-TT |
c.61_62delinsTT |
p.A21F |
Missense |
3/15 |
- |
1 |
3-41266064-GGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCAC-G |
c.61_119del |
p.A21Yfs*9 |
InFrameDeletion |
3/15 |
- |
1 |
3-41266063-GGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCT-G |
c.62_100del |
p.A21_S33del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266065-C-T |
c.62C>T |
p.A21V |
Missense |
3/15 |
- |
4 |
3-41266065-GCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACT-G |
c.62_120del |
p.A21Dfs*9 |
InFrameDeletion |
3/15 |
- |
6 |
3-41266066-T-A |
c.63T>A |
p.A21= |
Synonymous |
3/15 |
- |
9 |
3-41266066-T-C |
c.63T>C |
p.A21= |
Synonymous |
3/15 |
- |
10 |
3-41266066-T-G |
c.63T>G |
p.A21= |
Synonymous |
3/15 |
- |
9 |
3-41266067-G-A |
c.64G>A |
p.V22I |
Missense |
3/15 |
- |
9 |
3-41266067-GTT-ATG |
c.64_66delinsATG |
p.V22M |
Missense |
3/15 |
- |
1 |
3-41266067-TGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTAC-T |
c.64_122del |
p.V22Hfs*8 |
InFrameDeletion |
3/15 |
- |
6 |
3-41266067-TGTTAGTCACTGG-T |
c.64_75del |
p.V22_W25del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266064-GCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATT-G |
c.65_112del |
p.V22_S37del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266064-GCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACT-G |
c.65_100del |
p.V22_S33del |
InFrameDeletion |
3/15 |
- |
6 |
3-41266065-CTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGG-C |
c.65_115del |
p.V22_G38del |
InFrameDeletion |
3/15 |
- |
17 |
3-41266068-GTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACC-G |
c.65_123del |
p.V22Dfs*8 |
InFrameDeletion |
3/15 |
- |
8 |
3-41266068-T-A |
c.65T>A |
p.V22D |
Missense |
3/15 |
- |
3 |
3-41266068-T-C |
c.65T>C |
p.V22A |
Missense |
3/15 |
- |
22 |
3-41266068-T-G |
c.65T>G |
p.V22G |
Missense |
3/15 |
- |
5 |
3-41266069-T-A |
c.66T>A |
p.V22= |
Synonymous |
3/15 |
- |
1 |
3-41266069-T-C |
c.66T>C |
p.V22= |
Synonymous |
3/15 |
- |
1 |
3-41266069-T-G |
c.66T>G |
p.V22= |
Synonymous |
3/15 |
- |
1 |
3-41266069-TTAGTCACTGGCAGCAACAGTCTTACCTGGA-T |
c.66_95del |
p.H24_S33del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266068-TTAGTCACTGGCAGCAACAGTCTTACCTGGACTC-T |
c.67_99del |
p.S23_S33del |
InFrameDeletion |
3/15 |
- |
7 |
3-41266069-T-TA |
c.67dup |
p.S23Kfs*27 |
Frameshift |
3/15 |
- |
1 |
3-41266070-A-G |
c.67A>G |
p.S23G |
Missense |
3/15 |
- |
10 |
3-41266070-AG-CC |
c.67_68delinsCC |
p.S23P |
Missense |
3/15 |
- |
1 |
3-41266070-AG-GC |
c.67_68delinsGC |
p.S23A |
Missense |
3/15 |
- |
1 |
3-41266070-A-T |
c.67A>T |
p.S23C |
Missense |
3/15 |
- |
1 |
3-41266070-TAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCAC-T |
c.69_127del |
p.H24Sfs*6 |
InFrameDeletion |
3/15 |
- |
1 |
3-41266070-TAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATC-T |
c.67_105del |
p.S23_I35del |
InFrameDeletion |
3/15 |
- |
6 |
3-41266069-TAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCAC-T |
c.69_127del |
p.H24Sfs*6 |
InFrameDeletion |
3/15 |
- |
5 |
3-41266069-TAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCC-T |
c.68_118del |
p.S23_A39del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266071-AGTCACTGGCAGCAACAGTCTTACCTGGACT-A |
c.68_97del |
p.S23_S33delinsT |
MultiAAMissense |
3/15 |
- |
1 |
3-41266071-G-A |
c.68G>A |
p.S23N |
Missense |
3/15 |
- |
4 |
3-41266071-G-C |
c.68G>C |
p.S23T |
Missense |
3/15 |
- |
1 |
3-41266070-A-C |
c.67A>C |
p.S23R |
Missense |
3/15 |
- |
11 |
3-41266072-T-A |
c.69T>A |
p.S23R |
Missense |
3/15 |
- |
8 |
3-41266072-T-C |
c.69T>C |
p.S23= |
Synonymous |
3/15 |
- |
1 |
3-41266072-T-G |
c.69T>G |
p.S23R |
Missense |
3/15 |
- |
8 |
3-41266070-AGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTG-A |
c.70_114del |
p.H24_G38del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266073-C-T |
c.70C>T |
p.H24Y |
Missense |
3/15 |
- |
5 |
3-41266073-TCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGC-T |
c.70_128del |
p.H24Sfs*6 |
InFrameDeletion |
3/15 |
- |
4 |
3-41266073-TCACTGGCAGCAACAGTCTTACCTG-T |
c.70_93del |
p.H24_L31del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266074-A-C |
c.71A>C |
p.H24P |
Missense |
3/15 |
- |
1 |
3-41266074-A-G |
c.71A>G |
p.H24R |
Missense |
3/15 |
- |
5 |
3-41266074-A-T |
c.71A>T |
p.H24L |
Missense |
3/15 |
- |
1 |
3-41266074-CACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCT-C |
c.71_129del |
p.H24Pfs*6 |
InFrameDeletion |
3/15 |
- |
6 |
3-41266072-TCACTGGCAGCAA-T |
c.72_83del |
p.H24_Q27del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266075-ACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTC-A |
c.74_132del |
p.W25Ffs*5 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
3/15 |
- |
2 |
3-41266075-C-A |
c.72C>A |
p.H24Q |
Missense |
3/15 |
- |
1 |
3-41266075-C-G |
c.72C>G |
p.H24Q |
Missense |
3/15 |
- |
1 |
3-41266075-C-T |
c.72C>T |
p.H24= |
Synonymous |
3/15 |
- |
2 |
3-41266074-ACTGGCAGCAACAGTCTTACCTGGACTCTGGAAT-A |
c.73_105del |
p.W25_I35del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266074-ACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTC-A |
c.74_132del |
p.W25Ffs*5 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
3/15 |
- |
11 |
3-41266076-CTGGCAGCAACAGTCTTACCTGGACTCT-C |
c.73_99del |
p.W25_S33del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266076-T-A |
c.73T>A |
p.W25R |
Missense |
3/15 |
- |
2 |
3-41266076-T-C |
c.73T>C |
p.W25R |
Missense |
3/15 |
- |
2 |
3-41266073-CACTGGCAGCAACAGTCTTACCTGG-C |
c.74_97del |
p.W25_D32del |
InFrameDeletion |
3/15 |
- |
18 |
3-41266075-CTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCAT-C |
c.74_109del |
p.W25_H36del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266077-G-A |
c.74G>A |
p.W25* |
Nonsense |
3/15 |
- |
14 |
3-41266077-G-T |
c.74G>T |
p.W25L |
Missense |
3/15 |
- |
6 |
3-41266077-TGGCAGCAACAGTCTTACCTGG-T |
c.74_94del |
p.W25_D32delinsY |
MultiAAMissense |
3/15 |
- |
1 |
3-41266078-G-A |
c.75G>A |
p.W25* |
Nonsense |
3/15 |
- |
8 |
3-41266078-GGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTT-G |
c.75_133del |
p.W25Cfs*5 |
SpliceDonorDeletion |
3/15 |
- |
1 |
3-41266077-GGCAGCAACA-G |
c.76_84del |
p.Q26_Q28del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266077-GGCAGCAACAGTCTTACCT-G |
c.76_93del |
p.Q26_L31del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266079-C-T |
c.76C>T |
p.Q26* |
Nonsense |
3/15 |
- |
2 |
3-41266080-A-G |
c.77A>G |
p.Q26R |
Missense |
3/15 |
- |
9 |
3-41266081-G-A |
c.78G>A |
p.Q26= |
Synonymous |
3/15 |
- |
1 |
3-41266081-G-T |
c.78G>T |
p.Q26H |
Missense |
3/15 |
- |
1 |
3-41266082-C-T |
c.79C>T |
p.Q27* |
Nonsense |
3/15 |
- |
5 |
3-41266083-A-AGATTAACTATCAAGATGATGCAGAACTTGCCACACGTGC |
c.80_81insGATTAACTATCAAGATGATGCAGAACTTGCCACACGTGC |
p.Q27_Q28insINYQDDAELATRA |
InFrameInsertion |
3/15 |
- |
1 |
3-41266083-A-G |
c.80A>G |
p.Q27R |
Missense |
3/15 |
- |
1 |
3-41266084-A-G |
c.81A>G |
p.Q27= |
Synonymous |
3/15 |
- |
2 |
3-41266084-A-T |
c.81A>T |
p.Q27H |
Missense |
3/15 |
- |
1 |
3-41266083-AACAGTCTTACCTGGACTCTGG-A |
c.82_102del |
p.Q28_G34del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266085-ACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAG-A |
c.82_140del |
p.Q28Wfs*2 |
InFrameDeletion |
3/15 |
- |
9 |
3-41266085-CAG-GAC |
c.82_84delinsGAC |
p.Q28D |
Missense |
3/15 |
- |
2 |
3-41266085-C-T |
c.82C>T |
p.Q28* |
Nonsense |
3/15 |
- |
2 |
3-41266084-ACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCT-A |
c.83_130del |
p.Q28_A43del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266086-A-G |
c.83A>G |
p.Q28R |
Missense |
3/15 |
- |
3 |
3-41266086-A-T |
c.83A>T |
p.Q28L |
Missense |
3/15 |
- |
1 |
3-41266085-CAGTCTTACCTGG-C |
c.84_95del |
p.Q28_D32delinsH |
MultiAAMissense |
3/15 |
- |
1 |
3-41266087-G-A |
c.84G>A |
p.Q28= |
Synonymous |
3/15 |
- |
1 |
3-41266087-G-C |
c.84G>C |
p.Q28H |
Missense |
3/15 |
- |
3 |
3-41266087-G-T |
c.84G>T |
p.Q28H |
Missense |
3/15 |
- |
2 |
3-41266088-GTCTTACCTGGACTCTGGA-G |
c.85_102del |
p.S29_G34del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266088-T-A |
c.85T>A |
p.S29T |
Missense |
3/15 |
- |
3 |
3-41266088-T-C |
c.85T>C |
p.S29P |
Missense |
3/15 |
- |
5 |
3-41266088-TCT-CAA |
c.85_87delinsCAA |
p.S29Q |
Missense |
3/15 |
- |
1 |
3-41266088-T-G |
c.85T>G |
p.S29A |
Missense |
3/15 |
- |
4 |
3-41266089-C-A |
c.86C>A |
p.S29Y |
Missense |
3/15 |
- |
2 |
3-41266089-C-G |
c.86C>G |
p.S29C |
Missense |
3/15 |
- |
1 |
3-41266089-C-T |
c.86C>T |
p.S29F |
Missense |
3/15 |
- |
12 |
3-41266090-CTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTA-C |
c.87_145del |
p.Y30Rfs*4 |
SpliceDonorDeletion |
3/15 |
- |
1 |
3-41266090-T-A |
c.87T>A |
p.S29= |
Synonymous |
3/15 |
- |
2 |
3-41266090-T-C |
c.87T>C |
p.S29= |
Synonymous |
3/15 |
- |
2 |
3-41266090-T-G |
c.87T>G |
p.S29= |
Synonymous |
3/15 |
- |
3 |
3-41266087-GTCTTACCTGGAC-G |
c.88_99del |
p.Y30_S33del |
InFrameDeletion |
3/15 |
- |
13 |
3-41266087-GTCTTACCTGGACTCTGGAATCCAT-G |
c.88_111del |
p.Y30_S37del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266088-TCTTACCTGGACTCTGGAATCCATTCTGGTGCCA-T |
c.88_120del |
p.Y30_T40del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266091-TAC-GAG |
c.88_90delinsGAG |
p.Y30E |
Missense |
3/15 |
- |
1 |
3-41266091-TA-GG |
c.88_89delinsGG |
p.Y30G |
Missense |
3/15 |
- |
1 |
3-41266091-T-C |
c.88T>C |
p.Y30H |
Missense |
3/15 |
- |
2 |
3-41266091-T-G |
c.88T>G |
p.Y30D |
Missense |
3/15 |
- |
1 |
3-41266091-TTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAA-T |
c.88_146del |
p.Y30Rfs*4 |
InFrameDeletion |
3/15 |
- |
6 |
3-41266092-A-C |
c.89A>C |
p.Y30S |
Missense |
3/15 |
- |
3 |
3-41266092-A-G |
c.89A>G |
p.Y30C |
Missense |
3/15 |
- |
5 |
3-41266092-A-T |
c.89A>T |
p.Y30F |
Missense |
3/15 |
- |
1 |
3-41266091-TACCTGGACTCTGGAATCC-T |
c.90_107del |
p.L31_H36del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266093-C-A |
c.90C>A |
p.Y30* |
Nonsense |
3/15 |
- |
11 |
3-41266093-C-G |
c.90C>G |
p.Y30* |
Nonsense |
3/15 |
- |
10 |
3-41266093-C-T |
c.90C>T |
p.Y30= |
Synonymous |
3/15 |
- |
2 |
3-41266091-TACCTGG-T |
c.91_96del |
p.L31_D32del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266094-C-A |
c.91C>A |
p.L31M |
Missense |
3/15 |
- |
7 |
3-41266094-C-G |
c.91C>G |
p.L31V |
Missense |
3/15 |
- |
2 |
3-41266094-C-T |
c.91C>T |
p.L31= |
Synonymous |
3/15 |
- |
10 |
3-41266094-CT-TG |
c.91_92delinsTG |
p.L31W |
Missense |
3/15 |
- |
1 |
3-41266092-ACCTGGACTCTGGAAT-A |
c.92_106del |
p.L31_I35del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266095-T-A |
c.92T>A |
p.L31Q |
Missense |
3/15 |
- |
2 |
3-41266095-T-C |
c.92T>C |
p.L31P |
Missense |
3/15 |
- |
4 |
3-41266095-T-G |
c.92T>G |
p.L31R |
Missense |
3/15 |
- |
1 |
3-41266095-TG-AT |
c.92_93delinsAT |
p.L31H |
Missense |
3/15 |
- |
1 |
3-41266094-CTGGACTCTGGAA-C |
c.93_104del |
p.D32_I35del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266096-G-A |
c.93G>A |
p.L31= |
Synonymous |
3/15 |
- |
2 |
3-41266096-G-C |
c.93G>C |
p.L31= |
Synonymous |
3/15 |
- |
2 |
3-41266096-G-T |
c.93G>T |
p.L31= |
Synonymous |
3/15 |
- |
3 |
3-41266096-TGGACTCTGGAATCCATTCTGG-T |
c.93_113del |
p.D32_G38del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266096-TGGACTCTGGAATCCATTCTGGTGC-T |
c.93_116del |
p.D32_A39del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266097-G-A |
c.94G>A |
p.D32N |
Missense |
3/15 |
- |
167 |
3-41266097-GAC-CAA |
c.94_96delinsCAA |
p.D32Q |
Missense |
3/15 |
- |
1 |
3-41266097-GA-TT |
c.94_95delinsTT |
p.D32F |
Missense |
3/15 |
- |
2 |
3-41266097-G-C |
c.94G>C |
p.D32H |
Missense |
3/15 |
- |
96 |
3-41266097-GGAC-G |
c.94_96del |
p.D32del |
InFrameDeletion |
3/15 |
- |
8 |
3-41266097-GGACTCTGGAATCCAT-G |
c.94_108del |
p.D32_H36del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266097-G-T |
c.94G>T |
p.D32Y |
Missense |
3/15 |
- |
152 |
3-41266096-GGACTCT-G |
c.95_100del |
p.D32_S33del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266096-GGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGT-G |
c.95_142del |
p.D32_S47del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266098-A-C |
c.95A>C |
p.D32A |
Missense |
3/15 |
- |
80 |
3-41266098-A-G |
c.95A>G |
p.D32G |
Missense |
3/15 |
- |
140 |
3-41266098-A-T |
c.95A>T |
p.D32V |
Missense |
3/15 |
- |
119 |
3-41266097-GACTCTGGAATCC-G |
c.96_107del |
p.I35_G38del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266098-A-ACAG |
c.96_97insAGC |
p.S33dup |
InFrameInsertion |
3/15 |
- |
5 |
3-41266099-ACTCTGGAATCCATTCTGG-A |
c.96_113del |
p.S33_G38del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266099-ACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATC-A |
c.98_156del |
p.S33* |
InFrameDeletion |
3/15 |
- |
1 |
3-41266099-C-A |
c.96C>A |
p.D32E |
Missense |
3/15 |
- |
14 |
3-41266099-C-G |
c.96C>G |
p.D32E |
Missense |
3/15 |
- |
10 |
3-41266099-C-T |
c.96C>T |
p.D32= |
Synonymous |
3/15 |
- |
3 |
3-41266098-ACTCTGGAAT-A |
c.97_105del |
p.S33_I35del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266100-CTCT-C |
c.97_99del |
p.S33del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266100-CTCTGGAATCCATTCT-C |
c.97_111del |
p.S33_S37del |
InFrameDeletion |
3/15 |
- |
4 |
3-41266100-CTCTGGAATCCATTCTGGT-C |
c.97_114del |
p.S33_G38del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266100-CTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGT-C |
c.97_144del |
p.S33_G48del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266100-CTCTGGA-C |
c.97_102del |
p.S33_G34del |
InFrameDeletion |
3/15 |
- |
3 |
3-41266100-T-A |
c.97T>A |
p.S33T |
Missense |
3/15 |
- |
17 |
3-41266100-T-C |
c.97T>C |
p.S33P |
Missense |
3/15 |
- |
95 |
3-41266100-TC-AA |
c.97_98delinsAA |
p.S33N |
Missense |
3/15 |
- |
14 |
3-41266100-TC-CT |
c.97_98delinsCT |
p.S33L |
Missense |
3/15 |
- |
14 |
3-41266100-TC-GA |
c.97_98inv |
p.S33D |
Missense |
3/15 |
- |
1 |
3-41266100-TCT-GAG |
c.97_99delinsGAG |
p.S33E |
Missense |
3/15 |
- |
1 |
3-41266100-T-G |
c.97T>G |
p.S33A |
Missense |
3/15 |
- |
101 |
3-41266101-C-A |
c.98C>A |
p.S33Y |
Missense |
3/15 |
- |
260 |
3-41266101-C-G |
c.98C>G |
p.S33C |
Missense |
3/15 |
- |
223 |
3-41266101-C-T |
c.98C>T |
p.S33F |
Missense |
3/15 |
- |
185 |
3-41266102-CT-C |
c.99del |
p.G34Efs*13 |
Frameshift |
3/15 |
- |
1 |
3-41266102-CTG-C |
c.99_100del |
p.G34Nfs*15 |
Frameshift |
3/15 |
- |
1 |
3-41266102-T-A |
c.99T>A |
p.S33= |
Synonymous |
3/15 |
- |
6 |
3-41266102-T-C |
c.99T>C |
p.S33= |
Synonymous |
3/15 |
- |
11 |
3-41266102-T-G |
c.99T>G |
p.S33= |
Synonymous |
3/15 |
- |
6 |
3-41266102-T-TAGC |
c.99_100insAGC |
p.S33dup |
InFrameInsertion |
3/15 |
- |
3 |
3-41266103-G-A |
c.100G>A |
p.G34R |
Missense |
3/15 |
- |
150 |
3-41266103-G-C |
c.100G>C |
p.G34R |
Missense |
3/15 |
- |
129 |
3-41266103-GGA-AGC |
c.100_102delinsAGC |
p.G34S |
Missense |
3/15 |
- |
1 |
3-41266103-GG-AT |
c.100_101delinsAT |
p.G34I |
Missense |
3/15 |
- |
4 |
3-41266103-GGA-TAT |
c.100_102delinsTAT |
p.G34Y |
Missense |
3/15 |
- |
1 |
3-41266103-GGA-TGG |
c.100_102delinsTGG |
p.G34W |
Missense |
3/15 |
- |
2 |
3-41266103-GGA-TGT |
c.100_102delinsTGT |
p.G34C |
Missense |
3/15 |
- |
2 |
3-41266103-GG-CT |
c.100_101delinsCT |
p.G34L |
Missense |
3/15 |
- |
4 |
3-41266103-GG-TT |
c.100_101delinsTT |
p.G34L |
Missense |
3/15 |
- |
1 |
3-41266103-G-T |
c.100G>T |
p.G34* |
Nonsense |
3/15 |
- |
4 |
3-41266103-TGGAATCCATTCTGGTGCCACTACC-T |
c.100_123del |
p.G34_T41del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266103-TGGAATC-T |
c.100_105del |
p.G34_I35del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266101-CTGGAATCCATTCTGG-C |
c.101_115del |
p.G34_G38del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266102-TG-T |
c.101del |
p.G34Efs*13 |
Frameshift |
3/15 |
- |
1 |
3-41266102-T-TGGTACAAGC |
c.101_102insTACAAGCGG |
p.G34_I35insTSG |
InFrameInsertion |
3/15 |
- |
4 |
3-41266102-T-TGGTATC |
c.101_102insTATCGG |
p.G34_I35dup |
InFrameInsertion |
3/15 |
- |
4 |
3-41266104-G-A |
c.101G>A |
p.G34E |
Missense |
3/15 |
- |
165 |
3-41266104-GA-AC |
c.101_102delinsAC |
p.G34D |
Missense |
3/15 |
- |
1 |
3-41266104-G-C |
c.101G>C |
p.G34A |
Missense |
3/15 |
- |
18 |
3-41266104-GGAA-G |
c.101_103del |
p.G34_I35delinsV |
MultiAAMissense |
3/15 |
- |
1 |
3-41266104-G-GGATTAACTATCAAGATGATGCAGAACTTGCCACACGTGC |
c.101_102insGATTAACTATCAAGATGATGCAGAACTTGCCACACGTGC |
p.I35_H36insNYQDDAELATRAI |
InFrameInsertion |
3/15 |
- |
1 |
3-41266104-G-T |
c.101G>T |
p.G34V |
Missense |
3/15 |
- |
163 |
3-41266099-CTCTGGAATCCAT-C |
c.102_113del |
p.I35_G38del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266105-A-C |
c.102A>C |
p.G34= |
Synonymous |
3/15 |
- |
3 |
3-41266105-A-G |
c.102A>G |
p.G34= |
Synonymous |
3/15 |
- |
3 |
3-41266105-A-T |
c.102A>T |
p.G34= |
Synonymous |
3/15 |
- |
3 |
3-41266102-TGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGA-T |
c.104_162del |
p.I35Rfs*11 |
InFrameDeletion |
3/15 |
- |
5 |
3-41266106-AATC-A |
c.103_105del |
p.I35del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266106-AATCCATTCTGGT-A |
c.103_114del |
p.I35_G38del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266106-A-G |
c.103A>G |
p.I35V |
Missense |
3/15 |
- |
5 |
3-41266106-AT-GG |
c.103_104delinsGG |
p.I35G |
Missense |
3/15 |
- |
1 |
3-41266105-AATCCATTCTGGTGCCACTACC-A |
c.104_124del |
p.I35_T41del |
InFrameDeletion |
3/15 |
- |
4 |
3-41266107-T-A |
c.104T>A |
p.I35N |
Missense |
3/15 |
- |
8 |
3-41266107-T-C |
c.104T>C |
p.I35T |
Missense |
3/15 |
- |
24 |
3-41266107-TC-AG |
c.104_105delinsAG |
p.I35K |
Missense |
3/15 |
- |
7 |
3-41266107-T-G |
c.104T>G |
p.I35S |
Missense |
3/15 |
- |
59 |
3-41266104-G-GAATCAACTATCAAGACGACGCAGAGCTTGCAACAAGGGC |
c.105_106insAACTATCAAGACGACGCAGAGCTTGCAACAAGGGCAATC |
p.I35_H36insNYQDDAELATRAI |
InFrameInsertion |
3/15 |
- |
1 |
3-41266108-C-A |
c.105C>A |
p.I35= |
Synonymous |
3/15 |
- |
5 |
3-41266108-C-G |
c.105C>G |
p.I35M |
Missense |
3/15 |
- |
4 |
3-41266108-C-T |
c.105C>T |
p.I35= |
Synonymous |
3/15 |
- |
9 |
3-41266109-C-A |
c.106C>A |
p.H36N |
Missense |
3/15 |
- |
1 |
3-41266109-CA-AG |
c.106_107delinsAG |
p.H36S |
Missense |
3/15 |
- |
1 |
3-41266109-CA-GG |
c.106_107delinsGG |
p.H36G |
Missense |
3/15 |
- |
1 |
3-41266109-CATTCTGGTGCCACTA-GTAC |
c.106_121delinsGTAC |
p.H36_T41delinsVP |
MultiAAMissense |
3/15 |
- |
1 |
3-41266109-CCAT-C |
c.106_108del |
p.H36del |
InFrameDeletion |
3/15 |
- |
7 |
3-41266109-C-G |
c.106C>G |
p.H36D |
Missense |
3/15 |
- |
1 |
3-41266109-C-T |
c.106C>T |
p.H36Y |
Missense |
3/15 |
- |
26 |
3-41266108-CCATTCTGGTGCCACTACCACAGCTCCTTCT-C |
c.107_136del |
p.H36_S45del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266110-A-C |
c.107A>C |
p.H36P |
Missense |
3/15 |
- |
70 |
3-41266110-A-G |
c.107A>G |
p.H36R |
Missense |
3/15 |
- |
14 |
3-41266110-A-T |
c.107A>T |
p.H36L |
Missense |
3/15 |
- |
1 |
3-41266110-CATTCTGGTGCCA-C |
c.107_118del |
p.H36_T40delinsP |
MultiAAMissense |
3/15 |
- |
1 |
3-41266111-T-A |
c.108T>A |
p.H36Q |
Missense |
3/15 |
- |
2 |
3-41266111-T-C |
c.108T>C |
p.H36= |
Synonymous |
3/15 |
- |
1 |
3-41266111-T-G |
c.108T>G |
p.H36Q |
Missense |
3/15 |
- |
2 |
3-41266110-ATTC-A |
c.109_111del |
p.S37del |
InFrameDeletion |
3/15 |
- |
4 |
3-41266112-T-A |
c.109T>A |
p.S37T |
Missense |
3/15 |
- |
9 |
3-41266112-T-C |
c.109T>C |
p.S37P |
Missense |
3/15 |
- |
75 |
3-41266112-TC-CT |
c.109_110delinsCT |
p.S37L |
Missense |
3/15 |
- |
1 |
3-41266112-T-G |
c.109T>G |
p.S37A |
Missense |
3/15 |
- |
160 |
3-41266113-C-A |
c.110C>A |
p.S37Y |
Missense |
3/15 |
- |
109 |
3-41266113-C-G |
c.110C>G |
p.S37C |
Missense |
3/15 |
- |
238 |
3-41266113-C-T |
c.110C>T |
p.S37F |
Missense |
3/15 |
- |
269 |
3-41266113-CTG-TTT |
c.110_112delinsTTT |
p.S37_G38delinsFC |
MultiAAMissense |
3/15 |
- |
1 |
3-41266113-CT-TA |
c.110_111delinsTA |
p.S37L |
Missense |
3/15 |
- |
1 |
3-41266113-TCTG-T |
c.110_112del |
p.S37_G38delinsC |
MultiAAMissense |
3/15 |
- |
1 |
3-41266114-T-A |
c.111T>A |
p.S37= |
Synonymous |
3/15 |
- |
3 |
3-41266114-T-C |
c.111T>C |
p.S37= |
Synonymous |
3/15 |
- |
5 |
3-41266114-T-G |
c.111T>G |
p.S37= |
Synonymous |
3/15 |
- |
2 |
3-41266110-ATTCTGGTGCCACTACCACAGCTCC-A |
c.112_135del |
p.G38_S45del |
InFrameDeletion |
3/15 |
- |
3 |
3-41266115-G-A |
c.112G>A |
p.G38S |
Missense |
3/15 |
- |
3 |
3-41266115-G-C |
c.112G>C |
p.G38R |
Missense |
3/15 |
- |
1 |
3-41266115-GG-AA |
c.112_113delinsAA |
p.G38N |
Missense |
3/15 |
- |
1 |
3-41266115-GG-CC |
c.112_113inv |
p.G38P |
Missense |
3/15 |
- |
5 |
3-41266115-G-T |
c.112G>T |
p.G38C |
Missense |
3/15 |
- |
1 |
3-41266113-CTGG-C |
c.113_115del |
p.G38del |
InFrameDeletion |
3/15 |
- |
7 |
3-41266116-G-A |
c.113G>A |
p.G38D |
Missense |
3/15 |
- |
7 |
3-41266116-G-C |
c.113G>C |
p.G38A |
Missense |
3/15 |
- |
3 |
3-41266116-G-T |
c.113G>T |
p.G38V |
Missense |
3/15 |
- |
4 |
3-41266117-T-A |
c.114T>A |
p.G38= |
Synonymous |
3/15 |
- |
1 |
3-41266117-T-C |
c.114T>C |
p.G38= |
Synonymous |
3/15 |
- |
3 |
3-41266117-T-G |
c.114T>G |
p.G38= |
Synonymous |
3/15 |
- |
1 |
3-41266116-GTGCCAC-G |
c.115_120del |
p.A39_T40del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266116-GTGCCACTACCACAGCTCCTTC-G |
c.115_135del |
p.A39_S45del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266118-G-A |
c.115G>A |
p.A39T |
Missense |
3/15 |
- |
7 |
3-41266118-GCC-TAA |
c.115_117delinsTAA |
p.A39* |
Nonsense |
3/15 |
- |
1 |
3-41266118-GCC-TGG |
c.115_117delinsTGG |
p.A39W |
Missense |
3/15 |
- |
1 |
3-41266118-GC-TA |
c.115_116delinsTA |
p.A39Y |
Missense |
3/15 |
- |
1 |
3-41266118-G-T |
c.115G>T |
p.A39S |
Missense |
3/15 |
- |
2 |
3-41266118-TGCC-T |
c.115_117del |
p.A39del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266116-GTGCCACTACCACAGCTCCTTCTC-G |
c.116_138del |
p.A39Efs*3 |
Frameshift |
3/15 |
- |
1 |
3-41266117-TGCCACTACCACAGCTCCTTCTCTGAGTGGTAAA-T |
c.116_148del |
p.A39_K49del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266119-CC-AG |
c.116_117delinsAG |
p.A39E |
Missense |
3/15 |
- |
1 |
3-41266119-C-G |
c.116C>G |
p.A39G |
Missense |
3/15 |
- |
4 |
3-41266119-C-T |
c.116C>T |
p.A39V |
Missense |
3/15 |
- |
12 |
3-41266117-TGCCACTACCACA-T |
c.117_128del |
p.T40_A43del |
InFrameDeletion |
3/15 |
- |
3 |
3-41266120-C-A |
c.117C>A |
p.A39= |
Synonymous |
3/15 |
- |
4 |
3-41266120-C-G |
c.117C>G |
p.A39= |
Synonymous |
3/15 |
- |
4 |
3-41266120-C-T |
c.117C>T |
p.A39= |
Synonymous |
3/15 |
- |
4 |
3-41266121-A-C |
c.118A>C |
p.T40P |
Missense |
3/15 |
- |
2 |
3-41266121-A-G |
c.118A>G |
p.T40A |
Missense |
3/15 |
- |
7 |
3-41266120-CACTACCACAGCTCCTTCTCTG-C |
c.119_139del |
p.T40_L46del |
InFrameDeletion |
3/15 |
- |
3 |
3-41266121-A-T |
c.118A>T |
p.T40S |
Missense |
3/15 |
- |
4 |
3-41266122-C-G |
c.119C>G |
p.T40S |
Missense |
3/15 |
- |
4 |
3-41266122-C-T |
c.119C>T |
p.T40I |
Missense |
3/15 |
- |
16 |
3-41266120-CACT-C |
c.120_122del |
p.T42del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266123-T-A |
c.120T>A |
p.T40= |
Synonymous |
3/15 |
- |
2 |
3-41266123-T-C |
c.120T>C |
p.T40= |
Synonymous |
3/15 |
- |
4 |
3-41266123-T-G |
c.120T>G |
p.T40= |
Synonymous |
3/15 |
- |
2 |
3-41266124-A-C |
c.121A>C |
p.T41P |
Missense |
3/15 |
- |
40 |
3-41266124-AC-TT |
c.121_122delinsTT |
p.T41F |
Missense |
3/15 |
- |
1 |
3-41266124-A-G |
c.121A>G |
p.T41A |
Missense |
3/15 |
- |
393 |
3-41266124-A-T |
c.121A>T |
p.T41S |
Missense |
3/15 |
- |
35 |
3-41266125-C-A |
c.122C>A |
p.T41N |
Missense |
3/15 |
- |
38 |
3-41266125-C-G |
c.122C>G |
p.T41S |
Missense |
3/15 |
- |
24 |
3-41266125-C-T |
c.122C>T |
p.T41I |
Missense |
3/15 |
- |
166 |
3-41266123-TACC-T |
c.123_125del |
p.T42del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266126-C-A |
c.123C>A |
p.T41= |
Synonymous |
3/15 |
- |
6 |
3-41266126-C-G |
c.123C>G |
p.T41= |
Synonymous |
3/15 |
- |
6 |
3-41266126-C-T |
c.123C>T |
p.T41= |
Synonymous |
3/15 |
- |
10 |
3-41266122-CTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGA-C |
c.124_177del |
p.T42_T59del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266127-A-G |
c.124A>G |
p.T42A |
Missense |
3/15 |
- |
7 |
3-41266127-A-T |
c.124A>T |
p.T42S |
Missense |
3/15 |
- |
1 |
3-41266127-CACAGCTCCTTCTCTGAGTGGTAAA-C |
c.124_147del |
p.T42_K49del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266125-CCA-C |
c.125_126del |
p.T42Sfs*7 |
Frameshift |
3/15 |
- |
3 |
3-41266126-CACAGCTCCTTCTCTGAGTGGT-C |
c.125_145del |
p.T42_G48del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266128-AC-A |
c.125del |
p.T42Kfs*5 |
Frameshift |
3/15 |
- |
2 |
3-41266128-CA-TG |
c.125_126inv |
p.T42M |
Missense |
3/15 |
- |
1 |
3-41266128-C-G |
c.125C>G |
p.T42R |
Missense |
3/15 |
- |
10 |
3-41266128-C-T |
c.125C>T |
p.T42I |
Missense |
3/15 |
- |
9 |
3-41266129-A-AAGCAGC |
c.126_127insAGCAGC |
p.T42_A43insSS |
InFrameInsertion |
3/15 |
- |
1 |
3-41266129-A-C |
c.126A>C |
p.T42= |
Synonymous |
3/15 |
- |
1 |
3-41266129-A-G |
c.126A>G |
p.T42= |
Synonymous |
3/15 |
- |
6 |
3-41266129-A-T |
c.126A>T |
p.T42= |
Synonymous |
3/15 |
- |
1 |
3-41266130-G-A |
c.127G>A |
p.A43T |
Missense |
3/15 |
- |
7 |
3-41266130-G-C |
c.127G>C |
p.A43P |
Missense |
3/15 |
- |
3 |
3-41266130-GC-AA |
c.127_128delinsAA |
p.A43N |
Missense |
3/15 |
- |
1 |
3-41266130-GC-AT |
c.127_128delinsAT |
p.A43I |
Missense |
3/15 |
- |
2 |
3-41266130-GC-CA |
c.127_128delinsCA |
p.A43H |
Missense |
3/15 |
- |
1 |
3-41266130-GC-CG |
c.127_128delinsCG |
p.A43R |
Missense |
3/15 |
- |
1 |
3-41266130-GCT-ATG |
c.127_129delinsATG |
p.A43M |
Missense |
3/15 |
- |
1 |
3-41266130-GC-TG |
c.127_128delinsTG |
p.A43C |
Missense |
3/15 |
- |
1 |
3-41266128-CAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGA-C |
c.128_163del |
p.A43_E54del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266129-AGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAG-A |
c.128_160del |
p.A43_E53del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266131-C-A |
c.128C>A |
p.A43D |
Missense |
3/15 |
- |
3 |
3-41266131-C-G |
c.128C>G |
p.A43G |
Missense |
3/15 |
- |
1 |
3-41266131-C-T |
c.128C>T |
p.A43V |
Missense |
3/15 |
- |
11 |
3-41266131-CT-AG |
c.128_129inv |
p.A43E |
Missense |
3/15 |
- |
1 |
3-41266132-CTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGAT-C |
c.129_168del |
p.P44Wfs*23 |
Frameshift |
3/15 |
- |
1 |
3-41266132-T-A |
c.129T>A |
p.A43= |
Synonymous |
3/15 |
- |
2 |
3-41266132-T-C |
c.129T>C |
p.A43= |
Synonymous |
3/15 |
- |
3 |
3-41266132-T-G |
c.129T>G |
p.A43= |
Synonymous |
3/15 |
- |
2 |
3-41266130-GCTC-G |
c.130_132del |
p.P44del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266133-C-G |
c.130C>G |
p.P44A |
Missense |
3/15 |
- |
22 |
3-41266133-C-T |
c.130C>T |
p.P44S |
Missense |
3/15 |
- |
9 |
3-41266130-GCTCCTT-G |
c.131_136del |
p.P44_S45del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266132-TCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCC-T |
c.131_181del |
p.P44_S60del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266134-C-A |
c.131C>A |
p.P44H |
Missense |
3/15 |
- |
2 |
3-41266134-C-G |
c.131C>G |
p.P44R |
Missense |
3/15 |
- |
2 |
3-41266134-C-T |
c.131C>T |
p.P44L |
Missense |
3/15 |
- |
14 |
3-41266132-T-TCCTGGTGCAACAACAACAGCA |
c.132_133insGGTGCAACAACAACAGCACCT |
p.G38_P44dup |
InFrameInsertion |
3/15 |
- |
2 |
3-41266135-CTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGA-C |
c.132_164del |
p.S45_E55del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266135-T-A |
c.132T>A |
p.P44= |
Synonymous |
3/15 |
- |
1 |
3-41266135-T-C |
c.132T>C |
p.P44= |
Synonymous |
3/15 |
- |
2 |
3-41266135-T-G |
c.132T>G |
p.P44= |
Synonymous |
3/15 |
- |
1 |
3-41266131-CTCCTTCTCTGAGTGGTAAAGGCAA-C |
c.133_156del |
p.S45_P52del |
InFrameDeletion |
3/15 |
- |
3 |
3-41266133-CCTT-C |
c.133_135del |
p.S45del |
InFrameDeletion |
3/15 |
- |
96 |
3-41266134-CTTCTCTGAG-C |
c.133_141del |
p.S45_S47del |
InFrameDeletion |
3/15 |
- |
3 |
3-41266134-CTTCTCTGAGTGG-C |
c.133_144del |
p.S45_G48del |
InFrameDeletion |
3/15 |
- |
3 |
3-41266134-CTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGA-C |
c.133_174del |
p.S45_D58del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266136-T-A |
c.133T>A |
p.S45T |
Missense |
3/15 |
- |
14 |
3-41266136-T-C |
c.133T>C |
p.S45P |
Missense |
3/15 |
- |
298 |
3-41266136-TC-AA |
c.133_134delinsAA |
p.S45N |
Missense |
3/15 |
- |
2 |
3-41266136-TC-CT |
c.133_134delinsCT |
p.S45L |
Missense |
3/15 |
- |
4 |
3-41266136-TC-GA |
c.133_134inv |
p.S45D |
Missense |
3/15 |
- |
4 |
3-41266136-TC-GT |
c.133_134delinsGT |
p.S45V |
Missense |
3/15 |
- |
1 |
3-41266136-TCT-GAG |
c.133_135delinsGAG |
p.S45E |
Missense |
3/15 |
- |
4 |
3-41266136-T-G |
c.133T>G |
p.S45A |
Missense |
3/15 |
- |
79 |
3-41266136-TTCTCTGAGTGGTAAAGGCAATCCTGAGGAA-T |
c.133_162del |
p.S45_E54del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266136-TTCTCTG-T |
c.133_138del |
p.L46_S47del |
InFrameDeletion |
3/15 |
- |
3 |
3-41266137-C-A |
c.134C>A |
p.S45Y |
Missense |
3/15 |
- |
113 |
3-41266137-C-G |
c.134C>G |
p.S45C |
Missense |
3/15 |
- |
89 |
3-41266137-C-T |
c.134C>T |
p.S45F |
Missense |
3/15 |
- |
404 |
3-41266137-CT-AA |
c.134_135delinsAA |
p.S45* |
Nonsense |
3/15 |
- |
3 |
3-41266137-TCTC-T |
c.134_136del |
p.S45del |
InFrameDeletion |
3/15 |
- |
5 |
3-41266137-TCTCTGA-T |
c.134_139del |
p.S45_S47delinsC |
MultiAAMissense |
3/15 |
- |
2 |
3-41266138-T-A |
c.135T>A |
p.S45= |
Synonymous |
3/15 |
- |
6 |
3-41266138-T-C |
c.135T>C |
p.S45= |
Synonymous |
3/15 |
- |
9 |
3-41266138-T-G |
c.135T>G |
p.S45= |
Synonymous |
3/15 |
- |
6 |
3-41266137-CTCTGAG-C |
c.136_141del |
p.L46_S47del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266139-C-A |
c.136C>A |
p.L46M |
Missense |
3/15 |
- |
2 |
3-41266139-C-G |
c.136C>G |
p.L46V |
Missense |
3/15 |
- |
5 |
3-41266139-CTG-ATC |
c.136_138delinsATC |
p.L46I |
Missense |
3/15 |
- |
1 |
3-41266139-CT-GC |
c.136_137delinsGC |
p.L46A |
Missense |
3/15 |
- |
1 |
3-41266139-C-CT |
c.137dup |
p.S47Efs*3 |
Frameshift |
3/15 |
- |
2 |
3-41266140-T-C |
c.137T>C |
p.L46P |
Missense |
3/15 |
- |
7 |
3-41266140-T-G |
c.137T>G |
p.L46R |
Missense |
3/15 |
- |
2 |
3-41266139-C-T |
c.136C>T |
p.L46= |
Synonymous |
3/15 |
- |
9 |
3-41266141-G-A |
c.138G>A |
p.L46= |
Synonymous |
3/15 |
- |
10 |
3-41266141-G-C |
c.138G>C |
p.L46= |
Synonymous |
3/15 |
- |
7 |
3-41266141-G-GT |
c.138_139insT |
p.S47* |
Nonsense |
3/15 |
- |
1 |
3-41266141-G-T |
c.138G>T |
p.L46= |
Synonymous |
3/15 |
- |
7 |
3-41266142-A-G |
c.139A>G |
p.S47G |
Missense |
3/15 |
- |
5 |
3-41266142-AG-CT |
c.139_140inv |
p.S47L |
Missense |
3/15 |
- |
1 |
3-41266142-AG-GC |
c.139_140delinsGC |
p.S47A |
Missense |
3/15 |
- |
2 |
3-41266142-AG-TA |
c.139_140delinsTA |
p.S47Y |
Missense |
3/15 |
- |
1 |
3-41266142-AGT-GAG |
c.139_141delinsGAG |
p.S47E |
Missense |
3/15 |
- |
1 |
3-41266142-A-T |
c.139A>T |
p.S47C |
Missense |
3/15 |
- |
1 |
3-41266142-GAGT-G |
c.139_141del |
p.S47del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266143-G-A |
c.140G>A |
p.S47N |
Missense |
3/15 |
- |
9 |
3-41266143-G-C |
c.140G>C |
p.S47T |
Missense |
3/15 |
- |
3 |
3-41266143-G-T |
c.140G>T |
p.S47I |
Missense |
3/15 |
- |
1 |
3-41266142-A-C |
c.139A>C |
p.S47R |
Missense |
3/15 |
- |
2 |
3-41266144-T-A |
c.141T>A |
p.S47R |
Missense |
3/15 |
- |
3 |
3-41266144-T-C |
c.141T>C |
p.S47= |
Synonymous |
3/15 |
- |
1 |
3-41266144-T-G |
c.141T>G |
p.S47R |
Missense |
3/15 |
- |
2 |
3-41266142-AGTG-A |
c.142_144del |
p.G48del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266145-G-A |
c.142G>A |
p.G48S |
Missense |
3/15 |
- |
2 |
3-41266145-G-T |
c.142G>T |
p.G48C |
Missense |
3/15 |
- |
2 |
3-41266146-G-A |
c.143G>A |
p.G48D |
Missense |
3/15 |
- |
8 |
3-41266146-G-T |
c.143G>T |
p.G48V |
Missense |
3/15 |
- |
3 |
3-41266147-T-A |
c.144T>A |
p.G48= |
Synonymous |
3/15 |
- |
1 |
3-41266147-T-C |
c.144T>C |
p.G48= |
Synonymous |
3/15 |
- |
1 |
3-41266147-T-G |
c.144T>G |
p.G48= |
Synonymous |
3/15 |
- |
1 |
3-41266148-AA-CT |
c.145_146delinsCT |
p.K49L |
Missense |
3/15 |
- |
3 |
3-41266148-AA-GG |
c.145_146delinsGG |
p.K49G |
Missense |
3/15 |
- |
1 |
3-41266148-A-C |
c.145A>C |
p.K49Q |
Missense |
3/15 |
- |
1 |
3-41266148-A-G |
c.145A>G |
p.K49E |
Missense |
3/15 |
- |
5 |
3-41266148-TAAA-T |
c.145_147del |
p.K49del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266149-A-G |
c.146A>G |
p.K49R |
Missense |
3/15 |
- |
10 |
3-41266150-A-G |
c.147A>G |
p.K49= |
Synonymous |
3/15 |
- |
2 |
3-41266151-G-A |
c.148G>A |
p.G50S |
Missense |
3/15 |
- |
5 |
3-41266152-G-A |
c.149G>A |
p.G50D |
Missense |
3/15 |
- |
6 |
3-41266152-G-T |
c.149G>T |
p.G50V |
Missense |
3/15 |
- |
1 |
3-41266153-C-A |
c.150C>A |
p.G50= |
Synonymous |
3/15 |
- |
1 |
3-41266153-C-G |
c.150C>G |
p.G50= |
Synonymous |
3/15 |
- |
1 |
3-41266153-C-T |
c.150C>T |
p.G50= |
Synonymous |
3/15 |
- |
1 |
3-41266154-AAT-CAA |
c.151_153delinsCAA |
p.N51Q |
Missense |
3/15 |
- |
1 |
3-41266154-A-C |
c.151A>C |
p.N51H |
Missense |
3/15 |
- |
1 |
3-41266154-A-G |
c.151A>G |
p.N51D |
Missense |
3/15 |
- |
2 |
3-41266155-A-G |
c.152A>G |
p.N51S |
Missense |
3/15 |
- |
5 |
3-41266156-T-G |
c.153T>G |
p.N51K |
Missense |
3/15 |
- |
1 |
3-41266155-ATCC-A |
c.154_156del |
p.P52del |
InFrameDeletion |
3/15 |
- |
2 |
3-41266157-C-G |
c.154C>G |
p.P52A |
Missense |
3/15 |
- |
1 |
3-41266158-C-A |
c.155C>A |
p.P52H |
Missense |
3/15 |
- |
2 |
3-41266158-C-T |
c.155C>T |
p.P52L |
Missense |
3/15 |
- |
3 |
3-41266159-T-A |
c.156T>A |
p.P52= |
Synonymous |
3/15 |
- |
1 |
3-41266159-T-C |
c.156T>C |
p.P52= |
Synonymous |
3/15 |
- |
1 |
3-41266159-T-G |
c.156T>G |
p.P52= |
Synonymous |
3/15 |
- |
1 |
3-41266160-G-A |
c.157G>A |
p.E53K |
Missense |
3/15 |
- |
11 |
3-41266160-G-C |
c.157G>C |
p.E53Q |
Missense |
3/15 |
- |
1 |
3-41266161-A-C |
c.158A>C |
p.E53A |
Missense |
3/15 |
- |
2 |
3-41266161-A-G |
c.158A>G |
p.E53G |
Missense |
3/15 |
- |
2 |
3-41266161-A-T |
c.158A>T |
p.E53V |
Missense |
3/15 |
- |
3 |
3-41266159-TGAG-T |
c.159_161del |
p.E55del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266162-G-C |
c.159G>C |
p.E53D |
Missense |
3/15 |
- |
1 |
3-41266162-G-T |
c.159G>T |
p.E53D |
Missense |
3/15 |
- |
1 |
3-41266163-G-A |
c.160G>A |
p.E54K |
Missense |
3/15 |
- |
6 |
3-41266163-GAA-TGT |
c.160_162delinsTGT |
p.E54C |
Missense |
3/15 |
- |
1 |
3-41266163-G-T |
c.160G>T |
p.E54* |
Nonsense |
3/15 |
- |
1 |
3-41266164-A-G |
c.161A>G |
p.E54G |
Missense |
3/15 |
- |
1 |
3-41266162-GGAA-G |
c.162_164del |
p.E55del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266165-A-C |
c.162A>C |
p.E54D |
Missense |
3/15 |
- |
5 |
3-41266165-A-T |
c.162A>T |
p.E54D |
Missense |
3/15 |
- |
4 |
3-41266166-G-A |
c.163G>A |
p.E55K |
Missense |
3/15 |
- |
9 |
3-41266166-G-C |
c.163G>C |
p.E55Q |
Missense |
3/15 |
- |
3 |
3-41266166-G-T |
c.163G>T |
p.E55* |
Nonsense |
3/15 |
- |
3 |
3-41266167-A-C |
c.164A>C |
p.E55A |
Missense |
3/15 |
- |
1 |
3-41266167-A-G |
c.164A>G |
p.E55G |
Missense |
3/15 |
- |
2 |
3-41266167-A-T |
c.164A>T |
p.E55V |
Missense |
3/15 |
- |
1 |
3-41266165-AGAG-A |
c.165_167del |
p.E55del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266168-G-C |
c.165G>C |
p.E55D |
Missense |
3/15 |
- |
1 |
3-41266168-G-T |
c.165G>T |
p.E55D |
Missense |
3/15 |
- |
1 |
3-41266169-G-A |
c.166G>A |
p.D56N |
Missense |
3/15 |
- |
6 |
3-41266170-A-C |
c.167A>C |
p.D56A |
Missense |
3/15 |
- |
1 |
3-41266170-A-G |
c.167A>G |
p.D56G |
Missense |
3/15 |
- |
2 |
3-41266171-T-C |
c.168T>C |
p.D56= |
Synonymous |
3/15 |
- |
1 |
3-41266172-G-A |
c.169G>A |
p.V57M |
Missense |
3/15 |
- |
2 |
3-41266172-G-T |
c.169G>T |
p.V57L |
Missense |
3/15 |
- |
1 |
3-41266171-TGTG-T |
c.170_172del |
p.V57del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266173-T-C |
c.170T>C |
p.V57A |
Missense |
3/15 |
- |
2 |
3-41266173-TG-AC |
c.170_171delinsAC |
p.V57D |
Missense |
3/15 |
- |
1 |
3-41266175-G-A |
c.172G>A |
p.D58N |
Missense |
3/15 |
- |
3 |
3-41266175-G-T |
c.172G>T |
p.D58Y |
Missense |
3/15 |
- |
2 |
3-41266176-A-C |
c.173A>C |
p.D58A |
Missense |
3/15 |
- |
1 |
3-41266176-A-T |
c.173A>T |
p.D58V |
Missense |
3/15 |
- |
1 |
3-41266177-T-A |
c.174T>A |
p.D58E |
Missense |
3/15 |
- |
1 |
3-41266177-T-G |
c.174T>G |
p.D58E |
Missense |
3/15 |
- |
1 |
3-41266178-A-G |
c.175A>G |
p.T59A |
Missense |
3/15 |
- |
4 |
3-41266178-TACC-T |
c.175_177del |
p.T59del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266179-C-A |
c.176C>A |
p.T59N |
Missense |
3/15 |
- |
1 |
3-41266179-C-T |
c.176C>T |
p.T59I |
Missense |
3/15 |
- |
2 |
3-41266178-ACCT-A |
c.178_180del |
p.S60del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266181-T-A |
c.178T>A |
p.S60T |
Missense |
3/15 |
- |
1 |
3-41266181-T-C |
c.178T>C |
p.S60P |
Missense |
3/15 |
- |
3 |
3-41266181-TC-GA |
c.178_179inv |
p.S60D |
Missense |
3/15 |
- |
2 |
3-41266181-T-G |
c.178T>G |
p.S60A |
Missense |
3/15 |
- |
2 |
3-41266182-CC-AA |
c.179_180delinsAA |
p.S60* |
Nonsense |
3/15 |
- |
1 |
3-41266182-C-G |
c.179C>G |
p.S60C |
Missense |
3/15 |
- |
2 |
3-41266182-C-T |
c.179C>T |
p.S60F |
Missense |
3/15 |
- |
4 |
3-41266183-C-T |
c.180C>T |
p.S60= |
Synonymous |
3/15 |
- |
2 |
3-41266184-C-A |
c.181C>A |
p.Q61K |
Missense |
3/15 |
- |
25 |
3-41266184-C-G |
c.181C>G |
p.Q61E |
Missense |
3/15 |
- |
1 |
3-41266184-C-T |
c.181C>T |
p.Q61* |
Nonsense |
3/15 |
- |
1 |
3-41266185-A-C |
c.182A>C |
p.Q61P |
Missense |
3/15 |
- |
2 |
3-41266185-A-G |
c.182A>G |
p.Q61R |
Missense |
3/15 |
- |
28 |
3-41266185-A-T |
c.182A>T |
p.Q61L |
Missense |
3/15 |
- |
30 |
3-41266184-CA-C |
c.183del |
p.V62Sfs*18 |
Frameshift |
3/15 |
- |
1 |
3-41266186-A-C |
c.183A>C |
p.Q61H |
Missense |
3/15 |
- |
17 |
3-41266186-A-T |
c.183A>T |
p.Q61H |
Missense |
3/15 |
- |
15 |
3-41266187-G-T |
c.184G>T |
p.V62F |
Missense |
3/15 |
- |
1 |
3-41266188-T-A |
c.185T>A |
p.V62D |
Missense |
3/15 |
- |
1 |
3-41266188-T-G |
c.185T>G |
p.V62G |
Missense |
3/15 |
- |
2 |
3-41266189-C-A |
c.186C>A |
p.V62= |
Synonymous |
3/15 |
- |
2 |
3-41266189-C-G |
c.186C>G |
p.V62= |
Synonymous |
3/15 |
- |
2 |
3-41266189-C-T |
c.186C>T |
p.V62= |
Synonymous |
3/15 |
- |
2 |
3-41266190-C-A |
c.187C>A |
p.L63M |
Missense |
3/15 |
- |
1 |
3-41266190-C-T |
c.187C>T |
p.L63= |
Synonymous |
3/15 |
- |
1 |
3-41266191-T-A |
c.188T>A |
p.L63Q |
Missense |
3/15 |
- |
1 |
3-41266191-T-C |
c.188T>C |
p.L63P |
Missense |
3/15 |
- |
1 |
3-41266191-T-G |
c.188T>G |
p.L63R |
Missense |
3/15 |
- |
2 |
3-41266193-GTAT-G |
c.190_192del |
p.Y64del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266193-TA-AT |
c.190_191delinsAT |
p.Y64I |
Missense |
3/15 |
- |
1 |
3-41266193-TA-CC |
c.190_191delinsCC |
p.Y64P |
Missense |
3/15 |
- |
1 |
3-41266193-TA-GC |
c.190_191delinsGC |
p.Y64A |
Missense |
3/15 |
- |
1 |
3-41266193-TAT-GAG |
c.190_192delinsGAG |
p.Y64E |
Missense |
3/15 |
- |
1 |
3-41266194-A-C |
c.191A>C |
p.Y64S |
Missense |
3/15 |
- |
1 |
3-41266194-A-T |
c.191A>T |
p.Y64F |
Missense |
3/15 |
- |
2 |
3-41266196-G-A |
c.193G>A |
p.E65K |
Missense |
3/15 |
- |
1 |
3-41266197-A-G |
c.194A>G |
p.E65G |
Missense |
3/15 |
- |
2 |
3-41266199-T-G |
c.196T>G |
p.W66G |
Missense |
3/15 |
- |
1 |
3-41266200-G-A |
c.197G>A |
p.W66* |
Nonsense |
3/15 |
- |
2 |
3-41266200-G-T |
c.197G>T |
p.W66L |
Missense |
3/15 |
- |
3 |
3-41266201-G-A |
c.198G>A |
p.W66* |
Nonsense |
3/15 |
- |
5 |
3-41266202-G-A |
c.199G>A |
p.E67K |
Missense |
3/15 |
- |
6 |
3-41266202-G-C |
c.199G>C |
p.E67Q |
Missense |
3/15 |
- |
1 |
3-41266203-A-G |
c.200A>G |
p.E67G |
Missense |
3/15 |
- |
2 |
3-41266204-A-T |
c.201A>T |
p.E67D |
Missense |
3/15 |
- |
2 |
3-41266205-C-T |
c.202C>T |
p.Q68* |
Nonsense |
3/15 |
- |
1 |
3-41266206-A-C |
c.203A>C |
p.Q68P |
Missense |
3/15 |
- |
1 |
3-41266207-G-A |
c.204G>A |
p.Q68= |
Synonymous |
3/15 |
- |
1 |
3-41266209-G-A |
c.206G>A |
p.G69E |
Missense |
3/15 |
- |
1 |
3-41266209-G-C |
c.206G>C |
p.G69A |
Missense |
3/15 |
- |
1 |
3-41266209-G-T |
c.206G>T |
p.G69V |
Missense |
3/15 |
- |
1 |
3-41266211-T-A |
c.208T>A |
p.F70I |
Missense |
3/15 |
- |
1 |
3-41266211-T-C |
c.208T>C |
p.F70L |
Missense |
3/15 |
- |
2 |
3-41266211-T-G |
c.208T>G |
p.F70V |
Missense |
3/15 |
- |
1 |
3-41266213-T-A |
c.210T>A |
p.F70L |
Missense |
3/15 |
- |
2 |
3-41266213-T-G |
c.210T>G |
p.F70L |
Missense |
3/15 |
- |
2 |
3-41266212-T-G |
c.209T>G |
p.F70C |
Missense |
3/15 |
- |
1 |
3-41266213-T-C |
c.210T>C |
p.F70= |
Synonymous |
3/15 |
- |
1 |
3-41266214-T-A |
c.211T>A |
p.S71T |
Missense |
3/15 |
- |
1 |
3-41266214-TC-AA |
c.211_212delinsAA |
p.S71N |
Missense |
3/15 |
- |
1 |
3-41266214-TC-CT |
c.211_212delinsCT |
p.S71L |
Missense |
3/15 |
- |
1 |
3-41266217-C-G |
c.214C>G |
p.Q72E |
Missense |
3/15 |
- |
2 |
3-41266217-C-T |
c.214C>T |
p.Q72* |
Nonsense |
3/15 |
- |
2 |
3-41266217-TCA-T |
c.214_215del |
p.Q72Vfs*9 |
Frameshift |
3/15 |
- |
1 |
3-41266218-A-G |
c.215A>G |
p.Q72R |
Missense |
3/15 |
- |
3 |
3-41266218-A-T |
c.215A>T |
p.Q72L |
Missense |
3/15 |
- |
2 |
3-41266219-G-C |
c.216G>C |
p.Q72H |
Missense |
3/15 |
- |
3 |
3-41266219-G-T |
c.216G>T |
p.Q72H |
Missense |
3/15 |
- |
2 |
3-41266220-TC-CG |
c.217_218delinsCG |
p.S73R |
Missense |
3/15 |
- |
2 |
3-41266220-T-G |
c.217T>G |
p.S73A |
Missense |
3/15 |
- |
1 |
3-41266221-C-T |
c.218C>T |
p.S73F |
Missense |
3/15 |
- |
1 |
3-41266223-T-C |
c.220T>C |
p.F74L |
Missense |
3/15 |
- |
2 |
3-41266223-TT-GC |
c.220_221delinsGC |
p.F74A |
Missense |
3/15 |
- |
2 |
3-41266223-TT-GG |
c.220_221delinsGG |
p.F74G |
Missense |
3/15 |
- |
1 |
3-41266225-C-A |
c.222C>A |
p.F74L |
Missense |
3/15 |
- |
1 |
3-41266225-C-G |
c.222C>G |
p.F74L |
Missense |
3/15 |
- |
1 |
3-41266224-T-G |
c.221T>G |
p.F74C |
Missense |
3/15 |
- |
1 |
3-41266226-A-G |
c.223A>G |
p.T75A |
Missense |
3/15 |
- |
6 |
3-41266226-A-T |
c.223A>T |
p.T75S |
Missense |
3/15 |
- |
1 |
3-41266227-AC-A |
c.224del |
p.T75Ifs*5 |
Frameshift |
3/15 |
- |
1 |
3-41266227-C-T |
c.224C>T |
p.T75I |
Missense |
3/15 |
- |
5 |
3-41266227-CT-TG |
c.224_225delinsTG |
p.T75M |
Missense |
3/15 |
- |
1 |
3-41266228-T-A |
c.225T>A |
p.T75= |
Synonymous |
3/15 |
- |
2 |
3-41266228-T-C |
c.225T>C |
p.T75= |
Synonymous |
3/15 |
- |
2 |
3-41266228-T-G |
c.225T>G |
p.T75= |
Synonymous |
3/15 |
- |
2 |
3-41266229-C-G |
c.226C>G |
p.Q76E |
Missense |
3/15 |
- |
4 |
3-41266229-C-T |
c.226C>T |
p.Q76* |
Nonsense |
3/15 |
- |
4 |
3-41266230-A-C |
c.227A>C |
p.Q76P |
Missense |
3/15 |
- |
1 |
3-41266230-A-G |
c.227A>G |
p.Q76R |
Missense |
3/15 |
- |
1 |
3-41266232-G-A |
c.229G>A |
p.E77K |
Missense |
3/15 |
- |
3 |
3-41266232-G-T |
c.229G>T |
p.E77* |
Nonsense |
3/15 |
- |
3 |
3-41266234-A-C |
c.231A>C |
p.E77D |
Missense |
3/15 |
- |
1 |
3-41266234-A-T |
c.231A>T |
p.E77D |
Missense |
3/15 |
- |
1 |
3-41266235-C-T |
c.232C>T |
p.Q78* |
Nonsense |
3/15 |
- |
1 |
3-41266236-A-G |
c.233A>G |
p.Q78R |
Missense |
3/15 |
- |
1 |
3-41266238-G-A |
c.235G>A |
p.V79I |
Missense |
3/15 |
- |
2 |
3-41266238-G-T |
c.235G>T |
p.V79L |
Missense |
3/15 |
- |
1 |
3-41266238-GTA-TTT |
c.235_237delinsTTT |
p.V79F |
Missense |
3/15 |
- |
1 |
3-41266240-TAGC-T |
c.237_239del |
p.A80del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266241-G-A |
c.238G>A |
p.A80T |
Missense |
3/15 |
- |
2 |
3-41266241-G-C |
c.238G>C |
p.A80P |
Missense |
3/15 |
- |
3 |
3-41266241-GCT-CAA |
c.238_240delinsCAA |
p.A80Q |
Missense |
3/15 |
- |
1 |
3-41266241-GC-TT |
c.238_239delinsTT |
p.A80F |
Missense |
3/15 |
- |
1 |
3-41266241-G-T |
c.238G>T |
p.A80S |
Missense |
3/15 |
- |
2 |
3-41266240-AGCT-A |
c.239_241del |
p.A80del |
InFrameDeletion |
3/15 |
- |
1 |
3-41266242-C-G |
c.239C>G |
p.A80G |
Missense |
3/15 |
- |
1 |
3-41266242-GCT-G |
c.239_240del |
p.A80Gfs*3 |
SpliceDonorDeletion |
3/15 |
- |
1 |
3-41266242-C-CT |
c.240dup |
p.D81* |
SpliceDonorInsertion |
3/15 |
- |
1 |
3-41266243-T-TA |
c.240_241insA |
p.D81Rfs*3 |
SpliceDonorInsertion |
3/15 |
- |
1 |
3-41266243-T-TC |
c.240_241insC |
p.D81Rfs*3 |
SpliceDonorInsertion |
3/15 |
- |
1 |
3-41266244-G-A |
c.241G>A |
p.D81N |
Missense |
3/15 |
- |
1 |
3-41266245-G-A |
c.241+1G>A |
- |
IntronicSNV |
- |
3/14 |
1 |
3-41266249-G-C |
c.241+5G>C |
- |
IntronicSNV |
- |
3/14 |
1 |
3-41266446-AT-A |
c.243del |
p.D81Efs*8 |
Frameshift |
4/15 |
- |
1 |
3-41266446-T-C |
c.243T>C |
p.D81= |
Synonymous |
4/15 |
- |
1 |
3-41266447-A-C |
c.244A>C |
p.I82L |
Missense |
4/15 |
- |
1 |
3-41266447-A-G |
c.244A>G |
p.I82V |
Missense |
4/15 |
- |
5 |
3-41266448-T-A |
c.245T>A |
p.I82N |
Missense |
4/15 |
- |
1 |
3-41266450-G-A |
c.247G>A |
p.D83N |
Missense |
4/15 |
- |
3 |
3-41266450-G-C |
c.247G>C |
p.D83H |
Missense |
4/15 |
- |
2 |
3-41266452-T-C |
c.249T>C |
p.D83= |
Synonymous |
4/15 |
- |
1 |
3-41266453-G-A |
c.250G>A |
p.G84R |
Missense |
4/15 |
- |
6 |
3-41266453-G-C |
c.250G>C |
p.G84R |
Missense |
4/15 |
- |
6 |
3-41266453-GGA-AGC |
c.250_252delinsAGC |
p.G84S |
Missense |
4/15 |
- |
2 |
3-41266454-G-A |
c.251G>A |
p.G84E |
Missense |
4/15 |
- |
1 |
3-41266455-A-C |
c.252A>C |
p.G84= |
Synonymous |
4/15 |
- |
2 |
3-41266455-A-G |
c.252A>G |
p.G84= |
Synonymous |
4/15 |
- |
1 |
3-41266455-A-T |
c.252A>T |
p.G84= |
Synonymous |
4/15 |
- |
1 |
3-41266456-C-T |
c.253C>T |
p.Q85* |
Nonsense |
4/15 |
- |
2 |
3-41266457-A-C |
c.254A>C |
p.Q85P |
Missense |
4/15 |
- |
1 |
3-41266457-A-T |
c.254A>T |
p.Q85L |
Missense |
4/15 |
- |
1 |
3-41266458-G-A |
c.255G>A |
p.Q85= |
Synonymous |
4/15 |
- |
1 |
3-41266458-G-C |
c.255G>C |
p.Q85H |
Missense |
4/15 |
- |
1 |
3-41266458-G-T |
c.255G>T |
p.Q85H |
Missense |
4/15 |
- |
1 |
3-41266459-TA-CC |
c.256_257delinsCC |
p.Y86P |
Missense |
4/15 |
- |
1 |
3-41266459-TA-GC |
c.256_257delinsGC |
p.Y86A |
Missense |
4/15 |
- |
1 |
3-41266459-TAT-GAG |
c.256_258delinsGAG |
p.Y86E |
Missense |
4/15 |
- |
1 |
3-41266459-T-C |
c.256T>C |
p.Y86H |
Missense |
4/15 |
- |
1 |
3-41266460-A-T |
c.257A>T |
p.Y86F |
Missense |
4/15 |
- |
5 |
3-41266462-GC-AA |
c.259_260delinsAA |
p.A87K |
Missense |
4/15 |
- |
1 |
3-41266462-GCA-CAT |
c.259_261delinsCAT |
p.A87H |
Missense |
4/15 |
- |
4 |
3-41266462-GCA-TGT |
c.259_261delinsTGT |
p.A87C |
Missense |
4/15 |
- |
1 |
3-41266463-C-A |
c.260C>A |
p.A87E |
Missense |
4/15 |
- |
1 |
3-41266463-CA-AC |
c.260_261delinsAC |
p.A87D |
Missense |
4/15 |
- |
2 |
3-41266464-A-C |
c.261A>C |
p.A87= |
Synonymous |
4/15 |
- |
1 |
3-41266464-A-G |
c.261A>G |
p.A87= |
Synonymous |
4/15 |
- |
1 |
3-41266464-A-T |
c.261A>T |
p.A87= |
Synonymous |
4/15 |
- |
1 |
3-41266465-A-G |
c.262A>G |
p.M88V |
Missense |
4/15 |
- |
1 |
3-41266466-T-A |
c.263T>A |
p.M88K |
Missense |
4/15 |
- |
1 |
3-41266465-ATGACTCGAGC-A |
c.264_273del |
p.M88Ifs*13 |
Frameshift |
4/15 |
- |
1 |
3-41266468-AC-GG |
c.265_266delinsGG |
p.T89G |
Missense |
4/15 |
- |
1 |
3-41266468-ACT-GAG |
c.265_267delinsGAG |
p.T89E |
Missense |
4/15 |
- |
1 |
3-41266469-C-T |
c.266C>T |
p.T89I |
Missense |
4/15 |
- |
1 |
3-41266471-CGA-ATG |
c.268_270delinsATG |
p.R90M |
Missense |
4/15 |
- |
1 |
3-41266471-C-T |
c.268C>T |
p.R90* |
Nonsense |
4/15 |
- |
6 |
3-41266472-G-A |
c.269G>A |
p.R90Q |
Missense |
4/15 |
- |
9 |
3-41266472-G-T |
c.269G>T |
p.R90L |
Missense |
4/15 |
- |
3 |
3-41266474-G-A |
c.271G>A |
p.A91T |
Missense |
4/15 |
- |
3 |
3-41266474-GC-AA |
c.271_272delinsAA |
p.A91N |
Missense |
4/15 |
- |
1 |
3-41266474-GC-TA |
c.271_272delinsTA |
p.A91Y |
Missense |
4/15 |
- |
1 |
3-41266474-GCT-AAG |
c.271_273delinsAAG |
p.A91K |
Missense |
4/15 |
- |
3 |
3-41266474-GCT-CAA |
c.271_273delinsCAA |
p.A91Q |
Missense |
4/15 |
- |
2 |
3-41266474-GC-TT |
c.271_272delinsTT |
p.A91F |
Missense |
4/15 |
- |
2 |
3-41266474-GCT-TAA |
c.271_273delinsTAA |
p.A91* |
Nonsense |
4/15 |
- |
1 |
3-41266474-GCT-TGG |
c.271_273delinsTGG |
p.A91W |
Missense |
4/15 |
- |
2 |
3-41266474-G-T |
c.271G>T |
p.A91S |
Missense |
4/15 |
- |
1 |
3-41266475-C-A |
c.272C>A |
p.A91D |
Missense |
4/15 |
- |
1 |
3-41266475-C-T |
c.272C>T |
p.A91V |
Missense |
4/15 |
- |
3 |
3-41266476-T-A |
c.273T>A |
p.A91= |
Synonymous |
4/15 |
- |
1 |
3-41266476-T-C |
c.273T>C |
p.A91= |
Synonymous |
4/15 |
- |
1 |
3-41266476-T-G |
c.273T>G |
p.A91= |
Synonymous |
4/15 |
- |
1 |
3-41266477-C-G |
c.274C>G |
p.Q92E |
Missense |
4/15 |
- |
1 |
3-41266477-C-T |
c.274C>T |
p.Q92* |
Nonsense |
4/15 |
- |
6 |
3-41266479-G-A |
c.276G>A |
p.Q92= |
Synonymous |
4/15 |
- |
3 |
3-41266480-AG-CA |
c.277_278delinsCA |
p.R93Q |
Missense |
4/15 |
- |
2 |
3-41266480-AGG-CAT |
c.277_279delinsCAT |
p.R93H |
Missense |
4/15 |
- |
1 |
3-41266480-A-T |
c.277A>T |
p.R93W |
Missense |
4/15 |
- |
2 |
3-41266481-G-A |
c.278G>A |
p.R93K |
Missense |
4/15 |
- |
1 |
3-41266481-G-T |
c.278G>T |
p.R93M |
Missense |
4/15 |
- |
2 |
3-41266480-A-C |
c.277A>C |
p.R93= |
Synonymous |
4/15 |
- |
1 |
3-41266482-G-A |
c.279G>A |
p.R93= |
Synonymous |
4/15 |
- |
1 |
3-41266482-G-C |
c.279G>C |
p.R93S |
Missense |
4/15 |
- |
2 |
3-41266482-G-T |
c.279G>T |
p.R93S |
Missense |
4/15 |
- |
2 |
3-41266483-G-A |
c.280G>A |
p.V94I |
Missense |
4/15 |
- |
4 |
3-41266483-G-C |
c.280G>C |
p.V94L |
Missense |
4/15 |
- |
1 |
3-41266484-T-A |
c.281T>A |
p.V94E |
Missense |
4/15 |
- |
3 |
3-41266484-TA-AC |
c.281_282delinsAC |
p.V94D |
Missense |
4/15 |
- |
1 |
3-41266484-T-C |
c.281T>C |
p.V94A |
Missense |
4/15 |
- |
1 |
3-41266486-C-A |
c.283C>A |
p.R95= |
Synonymous |
4/15 |
- |
3 |
3-41266486-CGA-TGT |
c.283_285delinsTGT |
p.R95C |
Missense |
4/15 |
- |
1 |
3-41266486-C-T |
c.283C>T |
p.R95* |
Nonsense |
4/15 |
- |
20 |
3-41266488-A-C |
c.285A>C |
p.R95= |
Synonymous |
4/15 |
- |
5 |
3-41266488-A-G |
c.285A>G |
p.R95= |
Synonymous |
4/15 |
- |
3 |
3-41266488-A-T |
c.285A>T |
p.R95= |
Synonymous |
4/15 |
- |
4 |
3-41266487-G-A |
c.284G>A |
p.R95Q |
Missense |
4/15 |
- |
2 |
3-41266486-CGAGCTGCTAT-C |
c.285_294del |
p.A96Sfs*5 |
Frameshift |
4/15 |
- |
2 |
3-41266489-G-A |
c.286G>A |
p.A96T |
Missense |
4/15 |
- |
1 |
3-41266489-G-C |
c.286G>C |
p.A96P |
Missense |
4/15 |
- |
1 |
3-41266490-C-G |
c.287C>G |
p.A96G |
Missense |
4/15 |
- |
2 |
3-41266490-C-T |
c.287C>T |
p.A96V |
Missense |
4/15 |
- |
1 |
3-41266491-T-A |
c.288T>A |
p.A96= |
Synonymous |
4/15 |
- |
1 |
3-41266491-T-C |
c.288T>C |
p.A96= |
Synonymous |
4/15 |
- |
1 |
3-41266491-T-G |
c.288T>G |
p.A96= |
Synonymous |
4/15 |
- |
1 |
3-41266492-G-A |
c.289G>A |
p.A97T |
Missense |
4/15 |
- |
1 |
3-41266492-G-C |
c.289G>C |
p.A97P |
Missense |
4/15 |
- |
2 |
3-41266492-GC-AT |
c.289_290delinsAT |
p.A97I |
Missense |
4/15 |
- |
2 |
3-41266492-GC-CA |
c.289_290delinsCA |
p.A97H |
Missense |
4/15 |
- |
2 |
3-41266492-GCT-AAG |
c.289_291delinsAAG |
p.A97K |
Missense |
4/15 |
- |
2 |
3-41266492-GCT-CAA |
c.289_291delinsCAA |
p.A97Q |
Missense |
4/15 |
- |
2 |
3-41266492-GC-TG |
c.289_290delinsTG |
p.A97C |
Missense |
4/15 |
- |
1 |
3-41266492-GC-TT |
c.289_290delinsTT |
p.A97F |
Missense |
4/15 |
- |
1 |
3-41266493-C-A |
c.290C>A |
p.A97D |
Missense |
4/15 |
- |
1 |
3-41266493-C-G |
c.290C>G |
p.A97G |
Missense |
4/15 |
- |
1 |
3-41266493-C-T |
c.290C>T |
p.A97V |
Missense |
4/15 |
- |
3 |
3-41266495-A-C |
c.292A>C |
p.M98L |
Missense |
4/15 |
- |
1 |
3-41266495-A-G |
c.292A>G |
p.M98V |
Missense |
4/15 |
- |
6 |
3-41266496-T-C |
c.293T>C |
p.M98T |
Missense |
4/15 |
- |
2 |
3-41266496-T-G |
c.293T>G |
p.M98R |
Missense |
4/15 |
- |
1 |
3-41266497-G-A |
c.294G>A |
p.M98I |
Missense |
4/15 |
- |
1 |
3-41266497-G-C |
c.294G>C |
p.M98I |
Missense |
4/15 |
- |
1 |
3-41266497-G-T |
c.294G>T |
p.M98I |
Missense |
4/15 |
- |
1 |
3-41266498-T-C |
c.295T>C |
p.F99L |
Missense |
4/15 |
- |
1 |
3-41266498-TT-GA |
c.295_296delinsGA |
p.F99D |
Missense |
4/15 |
- |
1 |
3-41266500-C-A |
c.297C>A |
p.F99L |
Missense |
4/15 |
- |
2 |
3-41266500-C-G |
c.297C>G |
p.F99L |
Missense |
4/15 |
- |
1 |
3-41266500-C-T |
c.297C>T |
p.F99= |
Synonymous |
4/15 |
- |
1 |
3-41266501-CCT-TAA |
c.298_300delinsTAA |
p.P100* |
Nonsense |
4/15 |
- |
1 |
3-41266502-C-A |
c.299C>A |
p.P100H |
Missense |
4/15 |
- |
2 |
3-41266502-CCT-C |
c.299_300del |
p.P100Rfs*5 |
Frameshift |
4/15 |
- |
1 |
3-41266502-C-T |
c.299C>T |
p.P100L |
Missense |
4/15 |
- |
4 |
3-41266505-A-C |
c.302A>C |
p.E101A |
Missense |
4/15 |
- |
2 |
3-41266506-G-C |
c.303G>C |
p.E101D |
Missense |
4/15 |
- |
1 |
3-41266506-G-T |
c.303G>T |
p.E101D |
Missense |
4/15 |
- |
1 |
3-41266507-ACA-TGT |
c.304_306inv |
p.T102C |
Missense |
4/15 |
- |
1 |
3-41266507-A-G |
c.304A>G |
p.T102A |
Missense |
4/15 |
- |
1 |
3-41266507-GA-G |
c.304del |
p.T102Hfs*2 |
Frameshift |
4/15 |
- |
1 |
3-41266508-C-T |
c.305C>T |
p.T102I |
Missense |
4/15 |
- |
2 |
3-41266510-TT-GC |
c.307_308delinsGC |
p.L103A |
Missense |
4/15 |
- |
1 |
3-41266513-G-A |
c.310G>A |
p.D104N |
Missense |
4/15 |
- |
3 |
3-41266515-T-A |
c.312T>A |
p.D104E |
Missense |
4/15 |
- |
1 |
3-41266515-T-G |
c.312T>G |
p.D104E |
Missense |
4/15 |
- |
1 |
3-41266516-G-A |
c.313G>A |
p.E105K |
Missense |
4/15 |
- |
3 |
3-41266516-G-T |
c.313G>T |
p.E105* |
Nonsense |
4/15 |
- |
2 |
3-41266518-G-C |
c.315G>C |
p.E105D |
Missense |
4/15 |
- |
1 |
3-41266518-G-T |
c.315G>T |
p.E105D |
Missense |
4/15 |
- |
1 |
3-41266519-G-A |
c.316G>A |
p.G106S |
Missense |
4/15 |
- |
2 |
3-41266519-G-C |
c.316G>C |
p.G106R |
Missense |
4/15 |
- |
1 |
3-41266519-G-T |
c.316G>T |
p.G106C |
Missense |
4/15 |
- |
2 |
3-41266520-G-A |
c.317G>A |
p.G106D |
Missense |
4/15 |
- |
2 |
3-41266520-GC-AG |
c.317_318delinsAG |
p.G106E |
Missense |
4/15 |
- |
2 |
3-41266520-G-T |
c.317G>T |
p.G106V |
Missense |
4/15 |
- |
1 |
3-41266522-A-G |
c.319A>G |
p.M107V |
Missense |
4/15 |
- |
1 |
3-41266523-T-C |
c.320T>C |
p.M107T |
Missense |
4/15 |
- |
2 |
3-41266524-G-A |
c.321G>A |
p.M107I |
Missense |
4/15 |
- |
1 |
3-41266524-G-C |
c.321G>C |
p.M107I |
Missense |
4/15 |
- |
1 |
3-41266524-G-T |
c.321G>T |
p.M107I |
Missense |
4/15 |
- |
1 |
3-41266527-G-A |
c.324G>A |
p.Q108= |
Synonymous |
4/15 |
- |
2 |
3-41266527-G-C |
c.324G>C |
p.Q108H |
Missense |
4/15 |
- |
1 |
3-41266527-G-T |
c.324G>T |
p.Q108H |
Missense |
4/15 |
- |
2 |
3-41266531-CCA-TGT |
c.328_330delinsTGT |
p.P110C |
Missense |
4/15 |
- |
1 |
3-41266531-CC-TA |
c.328_329delinsTA |
p.P110* |
Nonsense |
4/15 |
- |
2 |
3-41266531-C-G |
c.328C>G |
p.P110A |
Missense |
4/15 |
- |
12 |
3-41266531-C-T |
c.328C>T |
p.P110S |
Missense |
4/15 |
- |
1 |
3-41266533-A-T |
c.330A>T |
p.P110= |
Synonymous |
4/15 |
- |
1 |
3-41266534-T-C |
c.331T>C |
p.S111P |
Missense |
4/15 |
- |
1 |
3-41266537-A-C |
c.334A>C |
p.T112P |
Missense |
4/15 |
- |
1 |
3-41266537-AC-CA |
c.334_335delinsCA |
p.T112Q |
Missense |
4/15 |
- |
1 |
3-41266538-CA-AC |
c.335_336delinsAC |
p.T112N |
Missense |
4/15 |
- |
1 |
3-41266538-C-G |
c.335C>G |
p.T112R |
Missense |
4/15 |
- |
2 |
3-41266540-ACAGT-A |
c.337_340del |
p.Q113Lfs*19 |
Frameshift |
4/15 |
- |
1 |
3-41266540-C-T |
c.337C>T |
p.Q113* |
Nonsense |
4/15 |
- |
4 |
3-41266541-A-C |
c.338A>C |
p.Q113P |
Missense |
4/15 |
- |
1 |
3-41266542-G-T |
c.339G>T |
p.Q113H |
Missense |
4/15 |
- |
1 |
3-41266543-T-C |
c.340T>C |
p.F114L |
Missense |
4/15 |
- |
1 |
3-41266545-T-C |
c.342T>C |
p.F114= |
Synonymous |
4/15 |
- |
2 |
3-41266546-G-C |
c.343G>C |
p.D115H |
Missense |
4/15 |
- |
1 |
3-41266546-G-T |
c.343G>T |
p.D115Y |
Missense |
4/15 |
- |
1 |
3-41266549-G-A |
c.346G>A |
p.A116T |
Missense |
4/15 |
- |
1 |
3-41266550-C-T |
c.347C>T |
p.A116V |
Missense |
4/15 |
- |
2 |
3-41266551-T-A |
c.348T>A |
p.A116= |
Synonymous |
4/15 |
- |
1 |
3-41266551-T-C |
c.348T>C |
p.A116= |
Synonymous |
4/15 |
- |
1 |
3-41266551-T-G |
c.348T>G |
p.A116= |
Synonymous |
4/15 |
- |
1 |
3-41266552-G-A |
c.349G>A |
p.A117T |
Missense |
4/15 |
- |
3 |
3-41266553-C-A |
c.350C>A |
p.A117D |
Missense |
4/15 |
- |
1 |
3-41266553-C-T |
c.350C>T |
p.A117V |
Missense |
4/15 |
- |
1 |
3-41266554-T-A |
c.351T>A |
p.A117= |
Synonymous |
4/15 |
- |
1 |
3-41266554-T-C |
c.351T>C |
p.A117= |
Synonymous |
4/15 |
- |
1 |
3-41266554-T-G |
c.351T>G |
p.A117= |
Synonymous |
4/15 |
- |
1 |
3-41266555-C-G |
c.352C>G |
p.H118D |
Missense |
4/15 |
- |
1 |
3-41266555-C-T |
c.352C>T |
p.H118Y |
Missense |
4/15 |
- |
5 |
3-41266556-A-T |
c.353A>T |
p.H118L |
Missense |
4/15 |
- |
1 |
3-41266557-T-C |
c.354T>C |
p.H118= |
Synonymous |
4/15 |
- |
3 |
3-41266558-C-G |
c.355C>G |
p.P119A |
Missense |
4/15 |
- |
1 |
3-41266559-C-T |
c.356C>T |
p.P119L |
Missense |
4/15 |
- |
1 |
3-41266557-T-TC |
c.357dup |
p.T120Hfs*2 |
Frameshift |
4/15 |
- |
1 |
3-41266560-C-A |
c.357C>A |
p.P119= |
Synonymous |
4/15 |
- |
2 |
3-41266560-C-G |
c.357C>G |
p.P119= |
Synonymous |
4/15 |
- |
2 |
3-41266560-C-T |
c.357C>T |
p.P119= |
Synonymous |
4/15 |
- |
4 |
3-41266561-A-C |
c.358A>C |
p.T120P |
Missense |
4/15 |
- |
1 |
3-41266561-A-G |
c.358A>G |
p.T120A |
Missense |
4/15 |
- |
1 |
3-41266560-CACTA-C |
c.359_362del |
p.T120Mfs*12 |
Frameshift |
4/15 |
- |
1 |
3-41266562-C-T |
c.359C>T |
p.T120I |
Missense |
4/15 |
- |
1 |
3-41266565-A-G |
c.362A>G |
p.N121S |
Missense |
4/15 |
- |
1 |
3-41266565-A-T |
c.362A>T |
p.N121I |
Missense |
4/15 |
- |
1 |
3-41266566-T-A |
c.363T>A |
p.N121K |
Missense |
4/15 |
- |
1 |
3-41266569-C-A |
c.366C>A |
p.V122= |
Synonymous |
4/15 |
- |
1 |
3-41266569-C-G |
c.366C>G |
p.V122= |
Synonymous |
4/15 |
- |
1 |
3-41266569-C-T |
c.366C>T |
p.V122= |
Synonymous |
4/15 |
- |
1 |
3-41266570-CA-GC |
c.367_368delinsGC |
p.Q123A |
Missense |
4/15 |
- |
1 |
3-41266570-C-T |
c.367C>T |
p.Q123* |
Nonsense |
4/15 |
- |
3 |
3-41266571-A-T |
c.368A>T |
p.Q123L |
Missense |
4/15 |
- |
1 |
3-41266572-G-A |
c.369G>A |
p.Q123= |
Synonymous |
4/15 |
- |
2 |
3-41266572-G-C |
c.369G>C |
p.Q123H |
Missense |
4/15 |
- |
6 |
3-41266572-G-T |
c.369G>T |
p.Q123H |
Missense |
4/15 |
- |
6 |
3-41266573-C-T |
c.370C>T |
p.R124C |
Missense |
4/15 |
- |
6 |
3-41266574-G-A |
c.371G>A |
p.R124H |
Missense |
4/15 |
- |
4 |
3-41266574-G-C |
c.371G>C |
p.R124P |
Missense |
4/15 |
- |
1 |
3-41266574-G-T |
c.371G>T |
p.R124L |
Missense |
4/15 |
- |
1 |
3-41266576-T-G |
c.373T>G |
p.L125V |
Missense |
4/15 |
- |
2 |
3-41266576-TT-CC |
c.373_374delinsCC |
p.L125P |
Missense |
4/15 |
- |
2 |
3-41266577-T-C |
c.374T>C |
p.L125S |
Missense |
4/15 |
- |
1 |
3-41266578-G-A |
c.375G>A |
p.L125= |
Synonymous |
4/15 |
- |
2 |
3-41266579-G-A |
c.376G>A |
p.A126T |
Missense |
4/15 |
- |
2 |
3-41266579-G-T |
c.376G>T |
p.A126S |
Missense |
4/15 |
- |
1 |
3-41266581-T-A |
c.378T>A |
p.A126= |
Synonymous |
4/15 |
- |
1 |
3-41266581-T-C |
c.378T>C |
p.A126= |
Synonymous |
4/15 |
- |
1 |
3-41266581-T-G |
c.378T>G |
p.A126= |
Synonymous |
4/15 |
- |
1 |
3-41266582-G-A |
c.379G>A |
p.E127K |
Missense |
4/15 |
- |
4 |
3-41266583-A-G |
c.380A>G |
p.E127G |
Missense |
4/15 |
- |
1 |
3-41266584-A-T |
c.381A>T |
p.E127D |
Missense |
4/15 |
- |
1 |
3-41266585-C-A |
c.382C>A |
p.P128T |
Missense |
4/15 |
- |
2 |
3-41266586-C-T |
c.383C>T |
p.P128L |
Missense |
4/15 |
- |
1 |
3-41266589-C-A |
c.386C>A |
p.S129* |
Nonsense |
4/15 |
- |
1 |
3-41266589-C-G |
c.386C>G |
p.S129* |
Nonsense |
4/15 |
- |
1 |
3-41266589-C-T |
c.386C>T |
p.S129L |
Missense |
4/15 |
- |
1 |
3-41266590-A-C |
c.387A>C |
p.S129= |
Synonymous |
4/15 |
- |
2 |
3-41266590-A-G |
c.387A>G |
p.S129= |
Synonymous |
4/15 |
- |
2 |
3-41266590-A-T |
c.387A>T |
p.S129= |
Synonymous |
4/15 |
- |
2 |
3-41266591-C-G |
c.388C>G |
p.Q130E |
Missense |
4/15 |
- |
2 |
3-41266592-A-G |
c.389A>G |
p.Q130R |
Missense |
4/15 |
- |
1 |
3-41266593-G-A |
c.390G>A |
p.Q130= |
Synonymous |
4/15 |
- |
8 |
3-41266597-C-A |
c.394C>A |
p.L132M |
Missense |
4/15 |
- |
1 |
3-41266597-CTG-ATC |
c.394_396delinsATC |
p.L132I |
Missense |
4/15 |
- |
1 |
3-41266597-CT-GC |
c.394_395delinsGC |
p.L132A |
Missense |
4/15 |
- |
1 |
3-41266597-C-T |
c.394C>T |
p.L132= |
Synonymous |
4/15 |
- |
6 |
3-41266599-G-A |
c.396G>A |
p.L132= |
Synonymous |
4/15 |
- |
5 |
3-41266599-G-C |
c.396G>C |
p.L132= |
Synonymous |
4/15 |
- |
3 |
3-41266599-G-T |
c.396G>T |
p.L132= |
Synonymous |
4/15 |
- |
3 |
3-41266600-AA-GC |
c.397_398delinsGC |
p.K133A |
Missense |
4/15 |
- |
1 |
3-41266600-A-T |
c.397A>T |
p.K133* |
Nonsense |
4/15 |
- |
1 |
3-41266601-A-G |
c.398A>G |
p.K133R |
Missense |
4/15 |
- |
1 |
3-41266602-A-C |
c.399A>C |
p.K133N |
Missense |
4/15 |
- |
1 |
3-41266602-A-G |
c.399A>G |
p.K133= |
Synonymous |
4/15 |
- |
1 |
3-41266602-A-T |
c.399A>T |
p.K133N |
Missense |
4/15 |
- |
1 |
3-41266604-A-G |
c.401A>G |
p.H134R |
Missense |
4/15 |
- |
1 |
3-41266605-AT-A |
c.402del |
p.H134Qfs*4 |
Frameshift |
4/15 |
- |
1 |
3-41266606-G-A |
c.403G>A |
p.A135T |
Missense |
4/15 |
- |
1 |
3-41266607-C-A |
c.404C>A |
p.A135E |
Missense |
4/15 |
- |
1 |
3-41266607-C-T |
c.404C>T |
p.A135V |
Missense |
4/15 |
- |
7 |
3-41266609-G-A |
c.406G>A |
p.V136I |
Missense |
4/15 |
- |
1 |
3-41266610-T-C |
c.407T>C |
p.V136A |
Missense |
4/15 |
- |
4 |
3-41266609-GT-G |
c.408del |
p.V137* |
Frameshift |
4/15 |
- |
1 |
3-41266615-A-C |
c.412A>C |
p.N138H |
Missense |
4/15 |
- |
1 |
3-41266615-A-G |
c.412A>G |
p.N138D |
Missense |
4/15 |
- |
1 |
3-41266616-A-C |
c.413A>C |
p.N138T |
Missense |
4/15 |
- |
1 |
3-41266616-A-G |
c.413A>G |
p.N138S |
Missense |
4/15 |
- |
1 |
3-41266617-CTTGA-C |
c.417_420del |
p.I140Tfs*16 |
Frameshift |
4/15 |
- |
1 |
3-41266620-G-C |
c.417G>C |
p.L139F |
Missense |
4/15 |
- |
3 |
3-41266620-G-T |
c.417G>T |
p.L139F |
Missense |
4/15 |
- |
2 |
3-41266620-GATTA-G |
c.419_422del |
p.I140Tfs*16 |
Frameshift |
4/15 |
- |
1 |
3-41266622-T-A |
c.419T>A |
p.I140N |
Missense |
4/15 |
- |
2 |
3-41266622-T-C |
c.419T>C |
p.I140T |
Missense |
4/15 |
- |
4 |
3-41266623-T-A |
c.420T>A |
p.I140= |
Synonymous |
4/15 |
- |
1 |
3-41266623-T-C |
c.420T>C |
p.I140= |
Synonymous |
4/15 |
- |
1 |
3-41266623-T-G |
c.420T>G |
p.I140M |
Missense |
4/15 |
- |
1 |
3-41266625-A-G |
c.422A>G |
p.N141S |
Missense |
4/15 |
- |
1 |
3-41266626-C-A |
c.423C>A |
p.N141K |
Missense |
4/15 |
- |
1 |
3-41266626-C-CG |
c.423_424insG |
p.Y142Vfs*4 |
Frameshift |
4/15 |
- |
1 |
3-41266627-CTAT-C |
c.424_426del |
p.Y142del |
InFrameDeletion |
4/15 |
- |
1 |
3-41266627-TA-CC |
c.424_425delinsCC |
p.Y142P |
Missense |
4/15 |
- |
1 |
3-41266627-TA-GC |
c.424_425delinsGC |
p.Y142A |
Missense |
4/15 |
- |
3 |
3-41266627-TAT-GAG |
c.424_426delinsGAG |
p.Y142E |
Missense |
4/15 |
- |
7 |
3-41266627-T-C |
c.424T>C |
p.Y142H |
Missense |
4/15 |
- |
1 |
3-41266628-A-T |
c.425A>T |
p.Y142F |
Missense |
4/15 |
- |
6 |
3-41266629-T-C |
c.426T>C |
p.Y142= |
Synonymous |
4/15 |
- |
2 |
3-41266630-C-G |
c.427C>G |
p.Q143E |
Missense |
4/15 |
- |
1 |
3-41266630-C-T |
c.427C>T |
p.Q143* |
Nonsense |
4/15 |
- |
1 |
3-41266630-CA-C |
c.429del |
p.D144Mfs*13 |
Frameshift |
4/15 |
- |
3 |
3-41266632-A-C |
c.429A>C |
p.Q143H |
Missense |
4/15 |
- |
2 |
3-41266632-A-T |
c.429A>T |
p.Q143H |
Missense |
4/15 |
- |
2 |
3-41266633-G-A |
c.430G>A |
p.D144N |
Missense |
4/15 |
- |
1 |
3-41266634-A-C |
c.431A>C |
p.D144A |
Missense |
4/15 |
- |
1 |
3-41266635-T-A |
c.432T>A |
p.D144E |
Missense |
4/15 |
- |
1 |
3-41266635-T-G |
c.432T>G |
p.D144E |
Missense |
4/15 |
- |
2 |
3-41266636-G-A |
c.433G>A |
p.D145N |
Missense |
4/15 |
- |
1 |
3-41266637-A-C |
c.434A>C |
p.D145A |
Missense |
4/15 |
- |
1 |
3-41266638-T-A |
c.435T>A |
p.D145E |
Missense |
4/15 |
- |
1 |
3-41266638-T-G |
c.435T>G |
p.D145E |
Missense |
4/15 |
- |
1 |
3-41266639-G-A |
c.436G>A |
p.A146T |
Missense |
4/15 |
- |
8 |
3-41266640-C-T |
c.437C>T |
p.A146V |
Missense |
4/15 |
- |
1 |
3-41266640-GCAGAACTT-G |
c.437_444del |
p.A146Gfs*7 |
Frameshift |
4/15 |
- |
1 |
3-41266642-G-A |
c.439G>A |
p.E147K |
Missense |
4/15 |
- |
2 |
3-41266643-A-G |
c.440A>G |
p.E147G |
Missense |
4/15 |
- |
1 |
3-41266643-A-T |
c.440A>T |
p.E147V |
Missense |
4/15 |
- |
1 |
3-41266646-CTTGCCACA-C |
c.443_450del |
p.L148Pfs*5 |
Frameshift |
4/15 |
- |
1 |
3-41266646-T-A |
c.443T>A |
p.L148H |
Missense |
4/15 |
- |
1 |
3-41266646-T-C |
c.443T>C |
p.L148P |
Missense |
4/15 |
- |
1 |
3-41266647-T-A |
c.444T>A |
p.L148= |
Synonymous |
4/15 |
- |
1 |
3-41266647-T-C |
c.444T>C |
p.L148= |
Synonymous |
4/15 |
- |
1 |
3-41266647-T-G |
c.444T>G |
p.L148= |
Synonymous |
4/15 |
- |
1 |
3-41266648-G-A |
c.445G>A |
p.A149T |
Missense |
4/15 |
- |
2 |
3-41266648-G-C |
c.445G>C |
p.A149P |
Missense |
4/15 |
- |
1 |
3-41266649-C-A |
c.446C>A |
p.A149D |
Missense |
4/15 |
- |
2 |
3-41266649-C-T |
c.446C>T |
p.A149V |
Missense |
4/15 |
- |
1 |
3-41266651-A-C |
c.448A>C |
p.T150P |
Missense |
4/15 |
- |
1 |
3-41266651-A-G |
c.448A>G |
p.T150A |
Missense |
4/15 |
- |
2 |
3-41266652-C-A |
c.449C>A |
p.T150K |
Missense |
4/15 |
- |
1 |
3-41266654-C-CAA |
c.451_452insAA |
p.R151Qfs*7 |
Frameshift |
4/15 |
- |
1 |
3-41266654-C-G |
c.451C>G |
p.R151G |
Missense |
4/15 |
- |
2 |
3-41266654-C-T |
c.451C>T |
p.R151C |
Missense |
4/15 |
- |
9 |
3-41266655-G-A |
c.452G>A |
p.R151H |
Missense |
4/15 |
- |
8 |
3-41266657-G-A |
c.454G>A |
p.A152T |
Missense |
4/15 |
- |
3 |
3-41266657-G-C |
c.454G>C |
p.A152P |
Missense |
4/15 |
- |
1 |
3-41266657-G-T |
c.454G>T |
p.A152S |
Missense |
4/15 |
- |
1 |
3-41266658-C-A |
c.455C>A |
p.A152E |
Missense |
4/15 |
- |
1 |
3-41266658-C-G |
c.455C>G |
p.A152G |
Missense |
4/15 |
- |
4 |
3-41266660-A-G |
c.457A>G |
p.I153V |
Missense |
4/15 |
- |
1 |
3-41266661-T-C |
c.458T>C |
p.I153T |
Missense |
4/15 |
- |
1 |
3-41266661-T-G |
c.458T>G |
p.I153S |
Missense |
4/15 |
- |
1 |
3-41266663-C-G |
c.460C>G |
p.P154A |
Missense |
4/15 |
- |
2 |
3-41266663-C-T |
c.460C>T |
p.P154S |
Missense |
4/15 |
- |
1 |
3-41266664-C-G |
c.461C>G |
p.P154R |
Missense |
4/15 |
- |
1 |
3-41266664-C-T |
c.461C>T |
p.P154L |
Missense |
4/15 |
- |
3 |
3-41266666-G-A |
c.463G>A |
p.E155K |
Missense |
4/15 |
- |
3 |
3-41266666-G-T |
c.463G>T |
p.E155* |
Nonsense |
4/15 |
- |
1 |
3-41266667-A-C |
c.464A>C |
p.E155A |
Missense |
4/15 |
- |
1 |
3-41266667-A-T |
c.464A>T |
p.E155V |
Missense |
4/15 |
- |
2 |
3-41266669-CT-GC |
c.466_467delinsGC |
p.L156A |
Missense |
4/15 |
- |
2 |
3-41266669-CT-TC |
c.466_467delinsTC |
p.L156S |
Missense |
4/15 |
- |
1 |
3-41266670-T-A |
c.467T>A |
p.L156Q |
Missense |
4/15 |
- |
1 |
3-41266670-T-C |
c.467T>C |
p.L156P |
Missense |
4/15 |
- |
3 |
3-41266669-C-T |
c.466C>T |
p.L156= |
Synonymous |
4/15 |
- |
2 |
3-41266670-T-TG |
c.468dup |
p.T157Dfs*6 |
Frameshift |
4/15 |
- |
1 |
3-41266671-G-A |
c.468G>A |
p.L156= |
Synonymous |
4/15 |
- |
2 |
3-41266671-G-C |
c.468G>C |
p.L156= |
Synonymous |
4/15 |
- |
5 |
3-41266671-G-T |
c.468G>T |
p.L156= |
Synonymous |
4/15 |
- |
2 |
3-41266672-A-G |
c.469A>G |
p.T157A |
Missense |
4/15 |
- |
1 |
3-41266673-CA-TG |
c.470_471inv |
p.T157M |
Missense |
4/15 |
- |
1 |
3-41266673-C-T |
c.470C>T |
p.T157I |
Missense |
4/15 |
- |
1 |
3-41266675-A-G |
c.472A>G |
p.K158E |
Missense |
4/15 |
- |
1 |
3-41266676-A-G |
c.473A>G |
p.K158R |
Missense |
4/15 |
- |
1 |
3-41266677-A-C |
c.474A>C |
p.K158N |
Missense |
4/15 |
- |
1 |
3-41266677-A-G |
c.474A>G |
p.K158= |
Synonymous |
4/15 |
- |
1 |
3-41266677-A-T |
c.474A>T |
p.K158N |
Missense |
4/15 |
- |
1 |
3-41266678-C-T |
c.475C>T |
p.L159= |
Synonymous |
4/15 |
- |
3 |
3-41266679-T-C |
c.476T>C |
p.L159P |
Missense |
4/15 |
- |
4 |
3-41266679-T-TGATGATGCAAAACCTTCCTCATGTACAAAGCCTTAACTAAAA |
c.477_478insATGATGCAAAACCTTCCTCATGTACAAAGCCTTAACTAAAAG |
p.L159_L160insMMQNLPHVQSLN* |
InFrameInsertion |
4/15 |
- |
1 |
3-41266680-G-A |
c.477G>A |
p.L159= |
Synonymous |
4/15 |
- |
1 |
3-41266680-G-C |
c.477G>C |
p.L159= |
Synonymous |
4/15 |
- |
1 |
3-41266680-G-T |
c.477G>T |
p.L159= |
Synonymous |
4/15 |
- |
1 |
3-41266681-C-A |
c.478C>A |
p.L160I |
Missense |
4/15 |
- |
2 |
3-41266682-T-C |
c.479T>C |
p.L160P |
Missense |
4/15 |
- |
1 |
3-41266683-A-G |
c.480A>G |
p.L160= |
Synonymous |
4/15 |
- |
1 |
3-41266684-A-C |
c.481A>C |
p.N161H |
Missense |
4/15 |
- |
1 |
3-41266684-A-G |
c.481A>G |
p.N161D |
Missense |
4/15 |
- |
1 |
3-41266685-A-T |
c.482A>T |
p.N161I |
Missense |
4/15 |
- |
1 |
3-41266686-T-C |
c.483T>C |
p.N161= |
Synonymous |
4/15 |
- |
1 |
3-41266687-G-A |
c.484G>A |
p.D162N |
Missense |
4/15 |
- |
1 |
3-41266688-A-C |
c.485A>C |
p.D162A |
Missense |
4/15 |
- |
1 |
3-41266688-A-G |
c.485A>G |
p.D162G |
Missense |
4/15 |
- |
2 |
3-41266688-A-T |
c.485A>T |
p.D162V |
Missense |
4/15 |
- |
1 |
3-41266689-C-A |
c.486C>A |
p.D162E |
Missense |
4/15 |
- |
5 |
3-41266689-C-G |
c.486C>G |
p.D162E |
Missense |
4/15 |
- |
3 |
3-41266689-C-T |
c.486C>T |
p.D162= |
Synonymous |
4/15 |
- |
5 |
3-41266690-G-A |
c.487G>A |
p.E163K |
Missense |
4/15 |
- |
1 |
3-41266691-A-T |
c.488A>T |
p.E163V |
Missense |
4/15 |
- |
1 |
3-41266692-G-C |
c.489G>C |
p.E163D |
Missense |
4/15 |
- |
1 |
3-41266692-G-T |
c.489G>T |
p.E163D |
Missense |
4/15 |
- |
1 |
3-41266693-G-A |
c.490G>A |
p.D164N |
Missense |
4/15 |
- |
4 |
3-41266693-G-T |
c.490G>T |
p.D164Y |
Missense |
4/15 |
- |
1 |
3-41266694-A-C |
c.491A>C |
p.D164A |
Missense |
4/15 |
- |
10 |
3-41266696-CCAG-C |
c.493_495del |
p.Q165del |
InFrameDeletion |
4/15 |
- |
1 |
3-41266696-C-T |
c.493C>T |
p.Q165* |
Nonsense |
4/15 |
- |
2 |
3-41266697-A-G |
c.494A>G |
p.Q165R |
Missense |
4/15 |
- |
1 |
3-41266698-G-C |
c.495G>C |
p.Q165H |
Missense |
4/15 |
- |
5 |
3-41266698-G-T |
c.495G>T |
p.Q165H |
Missense |
4/15 |
- |
6 |
3-41266699-G-C |
c.495+1G>C |
- |
IntronicSNV |
- |
4/14 |
1 |
3-41266750-G-A |
c.495+52G>A |
- |
IntronicSNV |
- |
4/14 |
1 |
3-41266825-G-A |
c.496G>A |
p.V166M |
Missense |
5/15 |
- |
4 |
3-41266825-G-C |
c.496G>C |
p.V166L |
Missense |
5/15 |
- |
1 |
3-41266825-G-T |
c.496G>T |
p.V166L |
Missense |
5/15 |
- |
1 |
3-41266825-GTG-ATC |
c.496_498delinsATC |
p.V166I |
Missense |
5/15 |
- |
1 |
3-41266826-T-G |
c.497T>G |
p.V166G |
Missense |
5/15 |
- |
5 |
3-41266828-G-A |
c.499G>A |
p.V167M |
Missense |
5/15 |
- |
1 |
3-41266828-GTG-TTT |
c.499_501delinsTTT |
p.V167F |
Missense |
5/15 |
- |
1 |
3-41266829-T-C |
c.500T>C |
p.V167A |
Missense |
5/15 |
- |
1 |
3-41266831-G-A |
c.502G>A |
p.V168I |
Missense |
5/15 |
- |
1 |
3-41266832-T-C |
c.503T>C |
p.V168A |
Missense |
5/15 |
- |
1 |
3-41266833-T-C |
c.504T>C |
p.V168= |
Synonymous |
5/15 |
- |
1 |
3-41266835-A-G |
c.506A>G |
p.N169S |
Missense |
5/15 |
- |
1 |
3-41266837-A-T |
c.508A>T |
p.K170* |
Nonsense |
5/15 |
- |
1 |
3-41266838-A-T |
c.509A>T |
p.K170M |
Missense |
5/15 |
- |
9 |
3-41266839-G-A |
c.510G>A |
p.K170= |
Synonymous |
5/15 |
- |
2 |
3-41266839-G-C |
c.510G>C |
p.K170N |
Missense |
5/15 |
- |
1 |
3-41266839-G-T |
c.510G>T |
p.K170N |
Missense |
5/15 |
- |
1 |
3-41266840-G-A |
c.511G>A |
p.A171T |
Missense |
5/15 |
- |
2 |
3-41266842-CT-C |
c.513del |
p.A172Qfs*37 |
Frameshift |
5/15 |
- |
1 |
3-41266843-G-A |
c.514G>A |
p.A172T |
Missense |
5/15 |
- |
1 |
3-41266843-GC-AG |
c.514_515delinsAG |
p.A172R |
Missense |
5/15 |
- |
1 |
3-41266844-C-G |
c.515C>G |
p.A172G |
Missense |
5/15 |
- |
1 |
3-41266845-A-T |
c.516A>T |
p.A172= |
Synonymous |
5/15 |
- |
1 |
3-41266846-G-T |
c.517G>T |
p.V173F |
Missense |
5/15 |
- |
1 |
3-41266846-GTT-ATG |
c.517_519delinsATG |
p.V173M |
Missense |
5/15 |
- |
1 |
3-41266847-T-G |
c.518T>G |
p.V173G |
Missense |
5/15 |
- |
1 |
3-41266849-A-G |
c.520A>G |
p.M174V |
Missense |
5/15 |
- |
3 |
3-41266850-AT-A |
c.521del |
p.M174Rfs*35 |
Frameshift |
5/15 |
- |
1 |
3-41266850-T-C |
c.521T>C |
p.M174T |
Missense |
5/15 |
- |
2 |
3-41266852-G-A |
c.523G>A |
p.V175I |
Missense |
5/15 |
- |
2 |
3-41266852-G-T |
c.523G>T |
p.V175F |
Missense |
5/15 |
- |
3 |
3-41266853-T-A |
c.524T>A |
p.V175D |
Missense |
5/15 |
- |
1 |
3-41266855-C-T |
c.526C>T |
p.H176Y |
Missense |
5/15 |
- |
2 |
3-41266857-T-C |
c.528T>C |
p.H176= |
Synonymous |
5/15 |
- |
1 |
3-41266858-C-G |
c.529C>G |
p.Q177E |
Missense |
5/15 |
- |
1 |
3-41266858-C-T |
c.529C>T |
p.Q177* |
Nonsense |
5/15 |
- |
1 |
3-41266859-A-C |
c.530A>C |
p.Q177P |
Missense |
5/15 |
- |
6 |
3-41266859-A-G |
c.530A>G |
p.Q177R |
Missense |
5/15 |
- |
4 |
3-41266860-G-A |
c.531G>A |
p.Q177= |
Synonymous |
5/15 |
- |
2 |
3-41266860-G-C |
c.531G>C |
p.Q177H |
Missense |
5/15 |
- |
1 |
3-41266860-G-T |
c.531G>T |
p.Q177H |
Missense |
5/15 |
- |
2 |
3-41266862-T-A |
c.533T>A |
p.L178H |
Missense |
5/15 |
- |
1 |
3-41266864-TC-CT |
c.535_536delinsCT |
p.S179L |
Missense |
5/15 |
- |
1 |
3-41266866-T-A |
c.537T>A |
p.S179= |
Synonymous |
5/15 |
- |
2 |
3-41266866-T-C |
c.537T>C |
p.S179= |
Synonymous |
5/15 |
- |
2 |
3-41266866-T-G |
c.537T>G |
p.S179= |
Synonymous |
5/15 |
- |
1 |
3-41266867-A-G |
c.538A>G |
p.K180E |
Missense |
5/15 |
- |
2 |
3-41266868-AA-G |
c.539_540delinsG |
p.K180Rfs*29 |
Frameshift |
5/15 |
- |
1 |
3-41266869-A-AT |
c.540_541insT |
p.K181* |
Nonsense |
5/15 |
- |
1 |
3-41266869-A-G |
c.540A>G |
p.K180= |
Synonymous |
5/15 |
- |
1 |
3-41266866-TA-T |
c.542del |
p.K181Rfs*28 |
Frameshift |
5/15 |
- |
3 |
3-41266872-G-GT |
c.543_544insT |
p.E182* |
Nonsense |
5/15 |
- |
1 |
3-41266873-G-A |
c.544G>A |
p.E182K |
Missense |
5/15 |
- |
1 |
3-41266873-G-T |
c.544G>T |
p.E182* |
Nonsense |
5/15 |
- |
1 |
3-41266876-G-A |
c.547G>A |
p.A183T |
Missense |
5/15 |
- |
2 |
3-41266876-GC-TA |
c.547_548delinsTA |
p.A183Y |
Missense |
5/15 |
- |
1 |
3-41266876-G-T |
c.547G>T |
p.A183S |
Missense |
5/15 |
- |
2 |
3-41266877-C-G |
c.548C>G |
p.A183G |
Missense |
5/15 |
- |
1 |
3-41266877-C-T |
c.548C>T |
p.A183V |
Missense |
5/15 |
- |
1 |
3-41266879-TC-AT |
c.550_551delinsAT |
p.S184I |
Missense |
5/15 |
- |
1 |
3-41266880-C-T |
c.551C>T |
p.S184F |
Missense |
5/15 |
- |
1 |
3-41266881-C-A |
c.552C>A |
p.S184= |
Synonymous |
5/15 |
- |
1 |
3-41266881-C-G |
c.552C>G |
p.S184= |
Synonymous |
5/15 |
- |
1 |
3-41266881-C-T |
c.552C>T |
p.S184= |
Synonymous |
5/15 |
- |
1 |
3-41266882-A-G |
c.553A>G |
p.R185G |
Missense |
5/15 |
- |
5 |
3-41266882-AG-CA |
c.553_554delinsCA |
p.R185Q |
Missense |
5/15 |
- |
2 |
3-41266883-G-A |
c.554G>A |
p.R185K |
Missense |
5/15 |
- |
1 |
3-41266882-A-C |
c.553A>C |
p.R185= |
Synonymous |
5/15 |
- |
4 |
3-41266884-A-C |
c.555A>C |
p.R185S |
Missense |
5/15 |
- |
2 |
3-41266884-A-G |
c.555A>G |
p.R185= |
Synonymous |
5/15 |
- |
4 |
3-41266885-CA-GC |
c.556_557delinsGC |
p.H186A |
Missense |
5/15 |
- |
1 |
3-41266886-A-T |
c.557A>T |
p.H186L |
Missense |
5/15 |
- |
2 |
3-41266887-C-T |
c.558C>T |
p.H186= |
Synonymous |
5/15 |
- |
3 |
3-41266888-G-A |
c.559G>A |
p.A187T |
Missense |
5/15 |
- |
5 |
3-41266888-G-T |
c.559G>T |
p.A187S |
Missense |
5/15 |
- |
1 |
3-41266889-C-T |
c.560C>T |
p.A187V |
Missense |
5/15 |
- |
1 |
3-41266891-A-G |
c.562A>G |
p.I188V |
Missense |
5/15 |
- |
3 |
3-41266893-C-A |
c.564C>A |
p.I188= |
Synonymous |
5/15 |
- |
1 |
3-41266893-C-G |
c.564C>G |
p.I188M |
Missense |
5/15 |
- |
1 |
3-41266893-C-T |
c.564C>T |
p.I188= |
Synonymous |
5/15 |
- |
5 |
3-41266894-A-C |
c.565A>C |
p.M189L |
Missense |
5/15 |
- |
1 |
3-41266894-A-G |
c.565A>G |
p.M189V |
Missense |
5/15 |
- |
1 |
3-41266894-A-T |
c.565A>T |
p.M189L |
Missense |
5/15 |
- |
1 |
3-41266895-T-C |
c.566T>C |
p.M189T |
Missense |
5/15 |
- |
1 |
3-41266897-CGT-AAG |
c.568_570delinsAAG |
p.R190K |
Missense |
5/15 |
- |
1 |
3-41266897-CGT-TGA |
c.568_570delinsTGA |
p.R190* |
Nonsense |
5/15 |
- |
1 |
3-41266897-C-T |
c.568C>T |
p.R190C |
Missense |
5/15 |
- |
7 |
3-41266898-G-A |
c.569G>A |
p.R190H |
Missense |
5/15 |
- |
11 |
3-41266900-T-C |
c.571T>C |
p.S191P |
Missense |
5/15 |
- |
1 |
3-41266900-TC-AA |
c.571_572delinsAA |
p.S191N |
Missense |
5/15 |
- |
1 |
3-41266900-TC-GA |
c.571_572inv |
p.S191D |
Missense |
5/15 |
- |
1 |
3-41266900-T-G |
c.571T>G |
p.S191A |
Missense |
5/15 |
- |
4 |
3-41266901-C-T |
c.572C>T |
p.S191F |
Missense |
5/15 |
- |
4 |
3-41266902-T-A |
c.573T>A |
p.S191= |
Synonymous |
5/15 |
- |
1 |
3-41266902-T-C |
c.573T>C |
p.S191= |
Synonymous |
5/15 |
- |
2 |
3-41266902-T-G |
c.573T>G |
p.S191= |
Synonymous |
5/15 |
- |
1 |
3-41266903-C-A |
c.574C>A |
p.P192T |
Missense |
5/15 |
- |
1 |
3-41266903-C-T |
c.574C>T |
p.P192S |
Missense |
5/15 |
- |
4 |
3-41266904-C-T |
c.575C>T |
p.P192L |
Missense |
5/15 |
- |
1 |
3-41266906-C-T |
c.577C>T |
p.Q193* |
Nonsense |
5/15 |
- |
2 |
3-41266909-A-C |
c.580A>C |
p.M194L |
Missense |
5/15 |
- |
1 |
3-41266909-A-G |
c.580A>G |
p.M194V |
Missense |
5/15 |
- |
1 |
3-41266909-A-T |
c.580A>T |
p.M194L |
Missense |
5/15 |
- |
1 |
3-41266910-T-A |
c.581T>A |
p.M194K |
Missense |
5/15 |
- |
2 |
3-41266912-G-C |
c.583G>C |
p.V195L |
Missense |
5/15 |
- |
2 |
3-41266912-GTG-TTT |
c.583_585delinsTTT |
p.V195F |
Missense |
5/15 |
- |
1 |
3-41266914-G-A |
c.585G>A |
p.V195= |
Synonymous |
5/15 |
- |
2 |
3-41266915-T-A |
c.586T>A |
p.S196T |
Missense |
5/15 |
- |
1 |
3-41266915-T-G |
c.586T>G |
p.S196A |
Missense |
5/15 |
- |
2 |
3-41266916-C-A |
c.587C>A |
p.S196Y |
Missense |
5/15 |
- |
1 |
3-41266916-C-T |
c.587C>T |
p.S196F |
Missense |
5/15 |
- |
1 |
3-41266917-T-A |
c.588T>A |
p.S196= |
Synonymous |
5/15 |
- |
1 |
3-41266917-T-C |
c.588T>C |
p.S196= |
Synonymous |
5/15 |
- |
1 |
3-41266917-T-G |
c.588T>G |
p.S196= |
Synonymous |
5/15 |
- |
1 |
3-41266918-G-T |
c.589G>T |
p.A197S |
Missense |
5/15 |
- |
6 |
3-41266919-C-A |
c.590C>A |
p.A197D |
Missense |
5/15 |
- |
2 |
3-41266919-C-T |
c.590C>T |
p.A197V |
Missense |
5/15 |
- |
2 |
3-41266921-A-C |
c.592A>C |
p.I198L |
Missense |
5/15 |
- |
3 |
3-41266921-A-G |
c.592A>G |
p.I198V |
Missense |
5/15 |
- |
1 |
3-41266921-A-T |
c.592A>T |
p.I198F |
Missense |
5/15 |
- |
1 |
3-41266922-T-C |
c.593T>C |
p.I198T |
Missense |
5/15 |
- |
5 |
3-41266923-T-G |
c.594T>G |
p.I198M |
Missense |
5/15 |
- |
1 |
3-41266923-T-TG |
c.595dup |
p.V199Gfs*9 |
Frameshift |
5/15 |
- |
1 |
3-41266924-G-A |
c.595G>A |
p.V199I |
Missense |
5/15 |
- |
7 |
3-41266924-G-C |
c.595G>C |
p.V199L |
Missense |
5/15 |
- |
1 |
3-41266924-G-T |
c.595G>T |
p.V199L |
Missense |
5/15 |
- |
1 |
3-41266927-C-G |
c.598C>G |
p.R200G |
Missense |
5/15 |
- |
1 |
3-41266927-CGT-TGG |
c.598_600delinsTGG |
p.R200W |
Missense |
5/15 |
- |
3 |
3-41266927-C-T |
c.598C>T |
p.R200C |
Missense |
5/15 |
- |
5 |
3-41266928-G-A |
c.599G>A |
p.R200H |
Missense |
5/15 |
- |
5 |
3-41266930-A-G |
c.601A>G |
p.T201A |
Missense |
5/15 |
- |
1 |
3-41266933-A-G |
c.604A>G |
p.M202V |
Missense |
5/15 |
- |
3 |
3-41266934-T-C |
c.605T>C |
p.M202T |
Missense |
5/15 |
- |
1 |
3-41266936-C-T |
c.607C>T |
p.Q203* |
Nonsense |
5/15 |
- |
7 |
3-41266938-G-A |
c.609G>A |
p.Q203= |
Synonymous |
5/15 |
- |
1 |
3-41266938-G-C |
c.609G>C |
p.Q203H |
Missense |
5/15 |
- |
2 |
3-41266938-G-T |
c.609G>T |
p.Q203H |
Missense |
5/15 |
- |
2 |
3-41266940-A-G |
c.611A>G |
p.N204S |
Missense |
5/15 |
- |
1 |
3-41266940-A-T |
c.611A>T |
p.N204I |
Missense |
5/15 |
- |
1 |
3-41266943-C-G |
c.614C>G |
p.T205R |
Missense |
5/15 |
- |
1 |
3-41266943-C-T |
c.614C>T |
p.T205I |
Missense |
5/15 |
- |
1 |
3-41266945-A-T |
c.616A>T |
p.N206Y |
Missense |
5/15 |
- |
1 |
3-41266946-A-G |
c.617A>G |
p.N206S |
Missense |
5/15 |
- |
1 |
3-41266949-A-G |
c.620A>G |
p.D207G |
Missense |
5/15 |
- |
5 |
3-41266951-G-A |
c.622G>A |
p.V208I |
Missense |
5/15 |
- |
2 |
3-41266951-G-C |
c.622G>C |
p.V208L |
Missense |
5/15 |
- |
1 |
3-41266951-G-T |
c.622G>T |
p.V208L |
Missense |
5/15 |
- |
1 |
3-41266952-T-A |
c.623T>A |
p.V208E |
Missense |
5/15 |
- |
2 |
3-41266954-G-A |
c.625G>A |
p.E209K |
Missense |
5/15 |
- |
1 |
3-41266954-G-C |
c.625G>C |
p.E209Q |
Missense |
5/15 |
- |
1 |
3-41266954-G-T |
c.625G>T |
p.E209* |
Nonsense |
5/15 |
- |
3 |
3-41266955-A-G |
c.626A>G |
p.E209G |
Missense |
5/15 |
- |
2 |
3-41266957-A-C |
c.628A>C |
p.T210P |
Missense |
5/15 |
- |
1 |
3-41266957-ACA-GAC |
c.628_630delinsGAC |
p.T210D |
Missense |
5/15 |
- |
2 |
3-41266959-A-C |
c.630A>C |
p.T210= |
Synonymous |
5/15 |
- |
1 |
3-41266959-A-G |
c.630A>G |
p.T210= |
Synonymous |
5/15 |
- |
1 |
3-41266959-A-T |
c.630A>T |
p.T210= |
Synonymous |
5/15 |
- |
1 |
3-41266959-CA-C |
c.630del |
p.A211Lfs*31 |
Frameshift |
5/15 |
- |
1 |
3-41266962-T-C |
c.633T>C |
p.A211= |
Synonymous |
5/15 |
- |
1 |
3-41266963-CGT-AAG |
c.634_636delinsAAG |
p.R212K |
Missense |
5/15 |
- |
1 |
3-41266963-CGT-TGG |
c.634_636delinsTGG |
p.R212W |
Missense |
5/15 |
- |
1 |
3-41266963-C-T |
c.634C>T |
p.R212C |
Missense |
5/15 |
- |
5 |
3-41266964-G-A |
c.635G>A |
p.R212H |
Missense |
5/15 |
- |
5 |
3-41266964-G-C |
c.635G>C |
p.R212P |
Missense |
5/15 |
- |
1 |
3-41266966-T-A |
c.637T>A |
p.C213S |
Missense |
5/15 |
- |
2 |
3-41266967-G-C |
c.638G>C |
p.C213S |
Missense |
5/15 |
- |
1 |
3-41266967-G-T |
c.638G>T |
p.C213F |
Missense |
5/15 |
- |
8 |
3-41266968-T-G |
c.639T>G |
p.C213W |
Missense |
5/15 |
- |
1 |
3-41266969-A-C |
c.640A>C |
p.T214P |
Missense |
5/15 |
- |
1 |
3-41266969-AC-GG |
c.640_641delinsGG |
p.T214G |
Missense |
5/15 |
- |
1 |
3-41266969-A-G |
c.640A>G |
p.T214A |
Missense |
5/15 |
- |
2 |
3-41266969-A-T |
c.640A>T |
p.T214S |
Missense |
5/15 |
- |
1 |
3-41266969-AC-A |
c.642del |
p.A215Lfs*27 |
Frameshift |
5/15 |
- |
1 |
3-41266971-C-G |
c.642C>G |
p.T214= |
Synonymous |
5/15 |
- |
1 |
3-41266971-C-T |
c.642C>T |
p.T214= |
Synonymous |
5/15 |
- |
2 |
3-41266972-G-A |
c.643G>A |
p.A215T |
Missense |
5/15 |
- |
13 |
3-41266973-C-T |
c.644C>T |
p.A215V |
Missense |
5/15 |
- |
1 |
3-41266974-T-A |
c.645T>A |
p.A215= |
Synonymous |
5/15 |
- |
2 |
3-41266974-T-C |
c.645T>C |
p.A215= |
Synonymous |
5/15 |
- |
2 |
3-41266974-T-G |
c.645T>G |
p.A215= |
Synonymous |
5/15 |
- |
2 |
3-41266972-GCTGGGAC-G |
c.646_652del |
p.G216Cfs*24 |
Frameshift |
5/15 |
- |
1 |
3-41266973-CTGGGACCTTGCATAACCTTTCCCATCATCG-C |
c.647_676del |
p.G216_R225del |
InFrameDeletion |
5/15 |
- |
1 |
3-41266976-G-A |
c.647G>A |
p.G216E |
Missense |
5/15 |
- |
1 |
3-41266974-TG-T |
c.648del |
p.T217Pfs*25 |
Frameshift |
5/15 |
- |
1 |
3-41266978-A-T |
c.649A>T |
p.T217S |
Missense |
5/15 |
- |
1 |
3-41266979-C-G |
c.650C>G |
p.T217S |
Missense |
5/15 |
- |
1 |
3-41266980-C-A |
c.651C>A |
p.T217= |
Synonymous |
5/15 |
- |
3 |
3-41266980-C-G |
c.651C>G |
p.T217= |
Synonymous |
5/15 |
- |
3 |
3-41266980-C-T |
c.651C>T |
p.T217= |
Synonymous |
5/15 |
- |
4 |
3-41266981-T-G |
c.652T>G |
p.L218V |
Missense |
5/15 |
- |
1 |
3-41266983-G-C |
c.654G>C |
p.L218F |
Missense |
5/15 |
- |
1 |
3-41266983-G-T |
c.654G>T |
p.L218F |
Missense |
5/15 |
- |
1 |
3-41266984-C-G |
c.655C>G |
p.H219D |
Missense |
5/15 |
- |
1 |
3-41266984-C-T |
c.655C>T |
p.H219Y |
Missense |
5/15 |
- |
1 |
3-41266987-A-G |
c.658A>G |
p.N220D |
Missense |
5/15 |
- |
1 |
3-41266988-A-G |
c.659A>G |
p.N220S |
Missense |
5/15 |
- |
1 |
3-41266990-C-G |
c.661C>G |
p.L221V |
Missense |
5/15 |
- |
1 |
3-41266990-C-T |
c.661C>T |
p.L221F |
Missense |
5/15 |
- |
2 |
3-41266990-CT-C |
c.664del |
p.S222Pfs*20 |
Frameshift |
5/15 |
- |
1 |
3-41266994-C-T |
c.665C>T |
p.S222F |
Missense |
5/15 |
- |
2 |
3-41266995-C-A |
c.666C>A |
p.S222= |
Synonymous |
5/15 |
- |
1 |
3-41266995-C-G |
c.666C>G |
p.S222= |
Synonymous |
5/15 |
- |
1 |
3-41266995-C-T |
c.666C>T |
p.S222= |
Synonymous |
5/15 |
- |
1 |
3-41266993-TC-T |
c.667del |
p.H223Ifs*19 |
Frameshift |
5/15 |
- |
3 |
3-41266996-CA-TT |
c.667_668delinsTT |
p.H223F |
Missense |
5/15 |
- |
1 |
3-41266996-C-T |
c.667C>T |
p.H223Y |
Missense |
5/15 |
- |
1 |
3-41266998-T-A |
c.669T>A |
p.H223Q |
Missense |
5/15 |
- |
1 |
3-41266998-T-C |
c.669T>C |
p.H223= |
Synonymous |
5/15 |
- |
1 |
3-41266998-T-G |
c.669T>G |
p.H223Q |
Missense |
5/15 |
- |
1 |
3-41266999-CAT-AAG |
c.670_672delinsAAG |
p.H224K |
Missense |
5/15 |
- |
1 |
3-41267002-CGT-TGA |
c.673_675delinsTGA |
p.R225* |
Nonsense |
5/15 |
- |
1 |
3-41267002-CGT-TGG |
c.673_675delinsTGG |
p.R225W |
Missense |
5/15 |
- |
3 |
3-41267002-C-T |
c.673C>T |
p.R225C |
Missense |
5/15 |
- |
9 |
3-41267003-G-A |
c.674G>A |
p.R225H |
Missense |
5/15 |
- |
8 |
3-41267003-G-C |
c.674G>C |
p.R225P |
Missense |
5/15 |
- |
1 |
3-41267003-GT-AA |
c.674_675delinsAA |
p.R225Q |
Missense |
5/15 |
- |
1 |
3-41267004-T-C |
c.675T>C |
p.R225= |
Synonymous |
5/15 |
- |
1 |
3-41267006-A-G |
c.677A>G |
p.E226G |
Missense |
5/15 |
- |
1 |
3-41267008-G-A |
c.679G>A |
p.G227S |
Missense |
5/15 |
- |
1 |
3-41267009-G-A |
c.680G>A |
p.G227D |
Missense |
5/15 |
- |
2 |
3-41267012-T-G |
c.683T>G |
p.L228* |
Nonsense |
5/15 |
- |
1 |
3-41267017-G-A |
c.688G>A |
p.A230T |
Missense |
5/15 |
- |
1 |
3-41267017-G-T |
c.688G>T |
p.A230S |
Missense |
5/15 |
- |
1 |
3-41267018-C-A |
c.689C>A |
p.A230D |
Missense |
5/15 |
- |
1 |
3-41267019-C-CGGCCCT |
c.690_691insGGCCCT |
p.A230_I231insGP |
InFrameInsertion |
5/15 |
- |
1 |
3-41267020-A-C |
c.691A>C |
p.I231L |
Missense |
5/15 |
- |
1 |
3-41267023-T-C |
c.694T>C |
p.F232L |
Missense |
5/15 |
- |
1 |
3-41267027-A-C |
c.698A>C |
p.K233T |
Missense |
5/15 |
- |
1 |
3-41267027-A-T |
c.698A>T |
p.K233M |
Missense |
5/15 |
- |
1 |
3-41267028-AG-A |
c.699del |
p.K233Nfs*9 |
Frameshift |
5/15 |
- |
1 |
3-41267028-G-A |
c.699G>A |
p.K233= |
Synonymous |
5/15 |
- |
1 |
3-41267028-G-C |
c.699G>C |
p.K233N |
Missense |
5/15 |
- |
1 |
3-41267028-G-T |
c.699G>T |
p.K233N |
Missense |
5/15 |
- |
1 |
3-41267029-T-C |
c.700T>C |
p.S234P |
Missense |
5/15 |
- |
1 |
3-41267029-TC-AA |
c.700_701delinsAA |
p.S234N |
Missense |
5/15 |
- |
1 |
3-41267030-C-A |
c.701C>A |
p.S234Y |
Missense |
5/15 |
- |
1 |
3-41267030-C-T |
c.701C>T |
p.S234F |
Missense |
5/15 |
- |
4 |
3-41267032-GGA-TGT |
c.703_705delinsTGT |
p.G235C |
Missense |
5/15 |
- |
1 |
3-41267032-G-T |
c.703G>T |
p.G235* |
Nonsense |
5/15 |
- |
4 |
3-41267033-GA-AC |
c.704_705delinsAC |
p.G235D |
Missense |
5/15 |
- |
1 |
3-41267033-G-GA |
c.705dup |
p.G236Rfs*35 |
Frameshift |
5/15 |
- |
3 |
3-41267035-G-A |
c.706G>A |
p.G236S |
Missense |
5/15 |
- |
1 |
3-41267034-A-AG |
c.707dup |
p.I237Hfs*34 |
Frameshift |
5/15 |
- |
1 |
3-41267036-G-C |
c.707G>C |
p.G236A |
Missense |
5/15 |
- |
1 |
3-41267039-T-G |
c.710T>G |
p.I237S |
Missense |
5/15 |
- |
1 |
3-41267041-C-G |
c.712C>G |
p.P238A |
Missense |
5/15 |
- |
1 |
3-41267042-C-A |
c.713C>A |
p.P238H |
Missense |
5/15 |
- |
1 |
3-41267044-G-A |
c.715G>A |
p.A239T |
Missense |
5/15 |
- |
1 |
3-41267045-C-T |
c.716C>T |
p.A239V |
Missense |
5/15 |
- |
1 |
3-41267047-C-T |
c.718C>T |
p.L240= |
Synonymous |
5/15 |
- |
2 |
3-41267047-CTG-TTT |
c.718_720delinsTTT |
p.L240F |
Missense |
5/15 |
- |
1 |
3-41267050-G-A |
c.721G>A |
p.V241M |
Missense |
5/15 |
- |
1 |
3-41267050-G-C |
c.721G>C |
p.V241L |
Missense |
5/15 |
- |
1 |
3-41267050-G-T |
c.721G>T |
p.V241L |
Missense |
5/15 |
- |
2 |
3-41267053-A-G |
c.724A>G |
p.K242E |
Missense |
5/15 |
- |
2 |
3-41267054-A-T |
c.725A>T |
p.K242I |
Missense |
5/15 |
- |
1 |
3-41267052-G-GA |
c.727dup |
p.M243Nfs*28 |
Frameshift |
5/15 |
- |
3 |
3-41267056-A-G |
c.727A>G |
p.M243V |
Missense |
5/15 |
- |
1 |
3-41267059-C-A |
c.730C>A |
p.L244I |
Missense |
5/15 |
- |
1 |
3-41267059-C-G |
c.730C>G |
p.L244V |
Missense |
5/15 |
- |
1 |
3-41267059-C-T |
c.730C>T |
p.L244F |
Missense |
5/15 |
- |
3 |
3-41267060-T-C |
c.731T>C |
p.L244P |
Missense |
5/15 |
- |
1 |
3-41267059-C-CT |
c.732dup |
p.G245Wfs*26 |
SpliceDonorInsertion |
5/15 |
- |
1 |
3-41267061-T-TA |
c.732_733insA |
p.G245Rfs*26 |
SpliceDonorInsertion |
5/15 |
- |
1 |
3-41267061-T-TC |
c.732_733insC |
p.G245Rfs*26 |
SpliceDonorInsertion |
5/15 |
- |
1 |
3-41267062-G-A |
c.733G>A |
p.G245S |
Missense |
5/15 |
- |
9 |
3-41267062-G-C |
c.733G>C |
p.G245R |
Missense |
5/15 |
- |
3 |
3-41267062-G-T |
c.733G>T |
p.G245C |
Missense |
5/15 |
- |
3 |
3-41267063-G-A |
c.734G>A |
p.G245D |
Missense |
5/15 |
- |
3 |
3-41267063-G-C |
c.734G>C |
p.G245A |
Missense |
5/15 |
- |
12 |
3-41267063-G-T |
c.734G>T |
p.G245V |
Missense |
5/15 |
- |
4 |
3-41267064-G-A |
c.734+1G>A |
- |
IntronicSNV |
- |
5/14 |
4 |
3-41267064-G-T |
c.734+1G>T |
- |
IntronicSNV |
- |
5/14 |
1 |
3-41267065-T-C |
c.734+2T>C |
- |
IntronicSNV |
- |
5/14 |
1 |
3-41267150-GT-G |
c.736del |
p.S246Hfs*30 |
Frameshift |
6/15 |
- |
1 |
3-41267152-T-C |
c.736T>C |
p.S246P |
Missense |
6/15 |
- |
1 |
3-41267152-T-G |
c.736T>G |
p.S246A |
Missense |
6/15 |
- |
1 |
3-41267153-C-T |
c.737C>T |
p.S246L |
Missense |
6/15 |
- |
1 |
3-41267155-C-G |
c.739C>G |
p.P247A |
Missense |
6/15 |
- |
1 |
3-41267157-A-C |
c.741A>C |
p.P247= |
Synonymous |
6/15 |
- |
1 |
3-41267157-A-G |
c.741A>G |
p.P247= |
Synonymous |
6/15 |
- |
1 |
3-41267157-A-T |
c.741A>T |
p.P247= |
Synonymous |
6/15 |
- |
1 |
3-41267158-G-A |
c.742G>A |
p.V248M |
Missense |
6/15 |
- |
1 |
3-41267160-G-A |
c.744G>A |
p.V248= |
Synonymous |
6/15 |
- |
1 |
3-41267160-G-C |
c.744G>C |
p.V248= |
Synonymous |
6/15 |
- |
1 |
3-41267160-G-T |
c.744G>T |
p.V248= |
Synonymous |
6/15 |
- |
1 |
3-41267161-G-A |
c.745G>A |
p.D249N |
Missense |
6/15 |
- |
3 |
3-41267161-G-T |
c.745G>T |
p.D249Y |
Missense |
6/15 |
- |
1 |
3-41267164-TC-GA |
c.748_749inv |
p.S250D |
Missense |
6/15 |
- |
1 |
3-41267165-C-T |
c.749C>T |
p.S250F |
Missense |
6/15 |
- |
3 |
3-41267165-CT-GG |
c.749_750delinsGG |
p.S250W |
Missense |
6/15 |
- |
1 |
3-41267167-GTG-ATC |
c.751_753delinsATC |
p.V251I |
Missense |
6/15 |
- |
1 |
3-41267169-G-T |
c.753G>T |
p.V251= |
Synonymous |
6/15 |
- |
1 |
3-41267170-TT-AG |
c.754_755delinsAG |
p.L252R |
Missense |
6/15 |
- |
1 |
3-41267170-TT-CC |
c.754_755delinsCC |
p.L252P |
Missense |
6/15 |
- |
1 |
3-41267170-TTG-T |
c.756_757del |
p.L252Ffs*18 |
Frameshift |
6/15 |
- |
1 |
3-41267172-G-C |
c.756G>C |
p.L252F |
Missense |
6/15 |
- |
1 |
3-41267173-T-C |
c.757T>C |
p.F253L |
Missense |
6/15 |
- |
1 |
3-41267173-TT-GA |
c.757_758delinsGA |
p.F253D |
Missense |
6/15 |
- |
1 |
3-41267173-TT-GC |
c.757_758delinsGC |
p.F253A |
Missense |
6/15 |
- |
1 |
3-41267175-T-A |
c.759T>A |
p.F253L |
Missense |
6/15 |
- |
1 |
3-41267175-T-G |
c.759T>G |
p.F253L |
Missense |
6/15 |
- |
1 |
3-41267177-A-G |
c.761A>G |
p.Y254C |
Missense |
6/15 |
- |
1 |
3-41267180-C-A |
c.764C>A |
p.A255D |
Missense |
6/15 |
- |
1 |
3-41267180-C-G |
c.764C>G |
p.A255G |
Missense |
6/15 |
- |
1 |
3-41267180-C-T |
c.764C>T |
p.A255V |
Missense |
6/15 |
- |
2 |
3-41267181-C-A |
c.765C>A |
p.A255= |
Synonymous |
6/15 |
- |
1 |
3-41267181-C-G |
c.765C>G |
p.A255= |
Synonymous |
6/15 |
- |
1 |
3-41267181-C-T |
c.765C>T |
p.A255= |
Synonymous |
6/15 |
- |
1 |
3-41267183-T-C |
c.767T>C |
p.I256T |
Missense |
6/15 |
- |
5 |
3-41267182-AT-A |
c.768del |
p.T257Qfs*19 |
Frameshift |
6/15 |
- |
1 |
3-41267184-T-G |
c.768T>G |
p.I256M |
Missense |
6/15 |
- |
5 |
3-41267184-T-TA |
c.769dup |
p.T257Nfs*14 |
Frameshift |
6/15 |
- |
1 |
3-41267185-A-T |
c.769A>T |
p.T257S |
Missense |
6/15 |
- |
1 |
3-41267186-AC-A |
c.770del |
p.T257Kfs*19 |
Frameshift |
6/15 |
- |
1 |
3-41267186-C-T |
c.770C>T |
p.T257I |
Missense |
6/15 |
- |
19 |
3-41267187-A-G |
c.771A>G |
p.T257= |
Synonymous |
6/15 |
- |
1 |
3-41267186-CA-C |
c.772del |
p.T258Lfs*18 |
Frameshift |
6/15 |
- |
1 |
3-41267189-C-T |
c.773C>T |
p.T258I |
Missense |
6/15 |
- |
2 |
3-41267191-C-T |
c.775C>T |
p.L259F |
Missense |
6/15 |
- |
3 |
3-41267188-ACT-A |
c.776_777del |
p.L259Pfs*11 |
Frameshift |
6/15 |
- |
4 |
3-41267192-T-A |
c.776T>A |
p.L259H |
Missense |
6/15 |
- |
4 |
3-41267193-C-A |
c.777C>A |
p.L259= |
Synonymous |
6/15 |
- |
3 |
3-41267193-C-G |
c.777C>G |
p.L259= |
Synonymous |
6/15 |
- |
1 |
3-41267193-C-T |
c.777C>T |
p.L259= |
Synonymous |
6/15 |
- |
3 |
3-41267194-CA-GC |
c.778_779delinsGC |
p.H260A |
Missense |
6/15 |
- |
2 |
3-41267194-C-G |
c.778C>G |
p.H260D |
Missense |
6/15 |
- |
1 |
3-41267194-C-T |
c.778C>T |
p.H260Y |
Missense |
6/15 |
- |
2 |
3-41267195-A-G |
c.779A>G |
p.H260R |
Missense |
6/15 |
- |
3 |
3-41267196-C-A |
c.780C>A |
p.H260Q |
Missense |
6/15 |
- |
2 |
3-41267196-C-G |
c.780C>G |
p.H260Q |
Missense |
6/15 |
- |
2 |
3-41267196-C-T |
c.780C>T |
p.H260= |
Synonymous |
6/15 |
- |
3 |
3-41267197-AA-GC |
c.781_782delinsGC |
p.N261A |
Missense |
6/15 |
- |
1 |
3-41267197-CAACCTTTTAT-C |
c.781_790del |
p.N261Yfs*12 |
Frameshift |
6/15 |
- |
2 |
3-41267198-A-C |
c.782A>C |
p.N261T |
Missense |
6/15 |
- |
1 |
3-41267198-A-G |
c.782A>G |
p.N261S |
Missense |
6/15 |
- |
1 |
3-41267199-C-A |
c.783C>A |
p.N261K |
Missense |
6/15 |
- |
1 |
3-41267200-C-A |
c.784C>A |
p.L262I |
Missense |
6/15 |
- |
1 |
3-41267201-T-G |
c.785T>G |
p.L262R |
Missense |
6/15 |
- |
1 |
3-41267203-T-C |
c.787T>C |
p.L263= |
Synonymous |
6/15 |
- |
1 |
3-41267200-CT-C |
c.788del |
p.L263Yfs*13 |
Frameshift |
6/15 |
- |
1 |
3-41267204-T-A |
c.788T>A |
p.L263* |
Nonsense |
6/15 |
- |
1 |
3-41267204-T-G |
c.788T>G |
p.L263* |
Nonsense |
6/15 |
- |
2 |
3-41267205-AT-A |
c.791del |
p.L264Yfs*12 |
Frameshift |
6/15 |
- |
3 |
3-41267207-T-C |
c.791T>C |
p.L264S |
Missense |
6/15 |
- |
2 |
3-41267207-T-G |
c.791T>G |
p.L264* |
Nonsense |
6/15 |
- |
1 |
3-41267209-C-T |
c.793C>T |
p.H265Y |
Missense |
6/15 |
- |
1 |
3-41267211-T-C |
c.795T>C |
p.H265= |
Synonymous |
6/15 |
- |
1 |
3-41267212-C-G |
c.796C>G |
p.Q266E |
Missense |
6/15 |
- |
1 |
3-41267212-C-T |
c.796C>T |
p.Q266* |
Nonsense |
6/15 |
- |
7 |
3-41267212-C-CA |
c.798dup |
p.E267Rfs*4 |
Frameshift |
6/15 |
- |
1 |
3-41267214-A-G |
c.798A>G |
p.Q266= |
Synonymous |
6/15 |
- |
1 |
3-41267214-A-T |
c.798A>T |
p.Q266H |
Missense |
6/15 |
- |
3 |
3-41267212-CAAGAAGGAGCT-C |
c.799_809del |
p.E267Nfs*22 |
Frameshift |
6/15 |
- |
1 |
3-41267215-G-A |
c.799G>A |
p.E267K |
Missense |
6/15 |
- |
2 |
3-41267215-G-T |
c.799G>T |
p.E267* |
Nonsense |
6/15 |
- |
3 |
3-41267212-CAAG-C |
c.800_802del |
p.E267del |
InFrameDeletion |
6/15 |
- |
2 |
3-41267216-A-T |
c.800A>T |
p.E267V |
Missense |
6/15 |
- |
1 |
3-41267215-GA-G |
c.801del |
p.G268Efs*8 |
Frameshift |
6/15 |
- |
2 |
3-41267215-GAAGGAGCTAA-G |
c.802_811del |
p.G268Wfs*5 |
Frameshift |
6/15 |
- |
4 |
3-41267218-G-A |
c.802G>A |
p.G268R |
Missense |
6/15 |
- |
1 |
3-41267218-G-C |
c.802G>C |
p.G268R |
Missense |
6/15 |
- |
1 |
3-41267218-GGA-AGC |
c.802_804delinsAGC |
p.G268S |
Missense |
6/15 |
- |
1 |
3-41267217-A-AG |
c.803dup |
p.A269Sfs*2 |
Frameshift |
6/15 |
- |
1 |
3-41267219-G-C |
c.803G>C |
p.G268A |
Missense |
6/15 |
- |
1 |
3-41267220-A-C |
c.804A>C |
p.G268= |
Synonymous |
6/15 |
- |
1 |
3-41267220-A-G |
c.804A>G |
p.G268= |
Synonymous |
6/15 |
- |
1 |
3-41267220-A-T |
c.804A>T |
p.G268= |
Synonymous |
6/15 |
- |
1 |
3-41267221-G-A |
c.805G>A |
p.A269T |
Missense |
6/15 |
- |
1 |
3-41267224-A-C |
c.808A>C |
p.K270Q |
Missense |
6/15 |
- |
1 |
3-41267224-A-G |
c.808A>G |
p.K270E |
Missense |
6/15 |
- |
1 |
3-41267225-A-C |
c.809A>C |
p.K270T |
Missense |
6/15 |
- |
2 |
3-41267223-TA-T |
c.811del |
p.M271Wfs*5 |
Frameshift |
6/15 |
- |
2 |
3-41267228-T-A |
c.812T>A |
p.M271K |
Missense |
6/15 |
- |
1 |
3-41267228-T-C |
c.812T>C |
p.M271T |
Missense |
6/15 |
- |
1 |
3-41267230-G-T |
c.814G>T |
p.A272S |
Missense |
6/15 |
- |
1 |
3-41267231-C-G |
c.815C>G |
p.A272G |
Missense |
6/15 |
- |
1 |
3-41267231-C-T |
c.815C>T |
p.A272V |
Missense |
6/15 |
- |
1 |
3-41267233-AGTG-A |
c.817_819del |
p.V273del |
InFrameDeletion |
6/15 |
- |
1 |
3-41267233-G-A |
c.817G>A |
p.V273M |
Missense |
6/15 |
- |
1 |
3-41267236-CGT-TGA |
c.820_822delinsTGA |
p.R274* |
Nonsense |
6/15 |
- |
1 |
3-41267236-C-T |
c.820C>T |
p.R274C |
Missense |
6/15 |
- |
3 |
3-41267237-G-A |
c.821G>A |
p.R274H |
Missense |
6/15 |
- |
8 |
3-41267239-T-G |
c.823T>G |
p.L275V |
Missense |
6/15 |
- |
1 |
3-41267241-A-C |
c.825A>C |
p.L275F |
Missense |
6/15 |
- |
2 |
3-41267241-A-T |
c.825A>T |
p.L275F |
Missense |
6/15 |
- |
3 |
3-41267243-C-G |
c.827C>G |
p.A276G |
Missense |
6/15 |
- |
1 |
3-41267243-C-T |
c.827C>T |
p.A276V |
Missense |
6/15 |
- |
1 |
3-41267245-G-A |
c.829G>A |
p.G277S |
Missense |
6/15 |
- |
1 |
3-41267246-G-A |
c.830G>A |
p.G277D |
Missense |
6/15 |
- |
3 |
3-41267246-G-C |
c.830G>C |
p.G277A |
Missense |
6/15 |
- |
1 |
3-41267246-GT-AG |
c.830_831delinsAG |
p.G277E |
Missense |
6/15 |
- |
1 |
3-41267248-GGG-AGC |
c.832_834delinsAGC |
p.G278S |
Missense |
6/15 |
- |
1 |
3-41267249-G-A |
c.833G>A |
p.G278E |
Missense |
6/15 |
- |
1 |
3-41267249-G-T |
c.833G>T |
p.G278V |
Missense |
6/15 |
- |
1 |
3-41267251-C-T |
c.835C>T |
p.L279= |
Synonymous |
6/15 |
- |
1 |
3-41267251-CT-GC |
c.835_836delinsGC |
p.L279A |
Missense |
6/15 |
- |
1 |
3-41267251-CTG-TTT |
c.835_837delinsTTT |
p.L279F |
Missense |
6/15 |
- |
1 |
3-41267251-GC-G |
c.835del |
p.L279Cfs*26 |
Frameshift |
6/15 |
- |
2 |
3-41267252-T-C |
c.836T>C |
p.L279P |
Missense |
6/15 |
- |
1 |
3-41267254-C-T |
c.838C>T |
p.Q280* |
Nonsense |
6/15 |
- |
3 |
3-41267255-A-G |
c.839A>G |
p.Q280R |
Missense |
6/15 |
- |
1 |
3-41267256-G-C |
c.840G>C |
p.Q280H |
Missense |
6/15 |
- |
1 |
3-41267256-G-T |
c.840G>T |
p.Q280H |
Missense |
6/15 |
- |
1 |
3-41267257-A-G |
c.841A>G |
p.K281E |
Missense |
6/15 |
- |
1 |
3-41267257-A-T |
c.841A>T |
p.K281* |
Nonsense |
6/15 |
- |
2 |
3-41267258-A-T |
c.842A>T |
p.K281I |
Missense |
6/15 |
- |
1 |
3-41267259-A-C |
c.843A>C |
p.K281N |
Missense |
6/15 |
- |
1 |
3-41267259-A-G |
c.843A>G |
p.K281= |
Synonymous |
6/15 |
- |
1 |
3-41267259-A-T |
c.843A>T |
p.K281N |
Missense |
6/15 |
- |
1 |
3-41267260-AT-GC |
c.844_845delinsGC |
p.M282A |
Missense |
6/15 |
- |
1 |
3-41267263-G-A |
c.847G>A |
p.V283I |
Missense |
6/15 |
- |
1 |
3-41267265-T-A |
c.849T>A |
p.V283= |
Synonymous |
6/15 |
- |
2 |
3-41267265-T-C |
c.849T>C |
p.V283= |
Synonymous |
6/15 |
- |
2 |
3-41267265-T-G |
c.849T>G |
p.V283= |
Synonymous |
6/15 |
- |
2 |
3-41267266-G-A |
c.850G>A |
p.A284T |
Missense |
6/15 |
- |
1 |
3-41267267-C-A |
c.851C>A |
p.A284D |
Missense |
6/15 |
- |
1 |
3-41267268-C-A |
c.852C>A |
p.A284= |
Synonymous |
6/15 |
- |
2 |
3-41267268-C-G |
c.852C>G |
p.A284= |
Synonymous |
6/15 |
- |
2 |
3-41267268-C-T |
c.852C>T |
p.A284= |
Synonymous |
6/15 |
- |
3 |
3-41267269-T-C |
c.853T>C |
p.L285= |
Synonymous |
6/15 |
- |
2 |
3-41267269-T-G |
c.853T>G |
p.L285V |
Missense |
6/15 |
- |
1 |
3-41267271-G-A |
c.855G>A |
p.L285= |
Synonymous |
6/15 |
- |
2 |
3-41267272-C-G |
c.856C>G |
p.L286V |
Missense |
6/15 |
- |
2 |
3-41267272-C-T |
c.856C>T |
p.L286F |
Missense |
6/15 |
- |
1 |
3-41267272-GC-G |
c.856del |
p.L286Sfs*19 |
Frameshift |
6/15 |
- |
1 |
3-41267275-A-C |
c.859A>C |
p.N287H |
Missense |
6/15 |
- |
1 |
3-41267275-A-G |
c.859A>G |
p.N287D |
Missense |
6/15 |
- |
2 |
3-41267276-A-C |
c.860A>C |
p.N287T |
Missense |
6/15 |
- |
1 |
3-41267276-A-G |
c.860A>G |
p.N287S |
Missense |
6/15 |
- |
31 |
3-41267277-C-A |
c.861C>A |
p.N287K |
Missense |
6/15 |
- |
2 |
3-41267277-C-G |
c.861C>G |
p.N287K |
Missense |
6/15 |
- |
1 |
3-41267277-C-T |
c.861C>T |
p.N287= |
Synonymous |
6/15 |
- |
1 |
3-41267279-A-AG |
c.863_864insG |
p.T289Nfs*4 |
Frameshift |
6/15 |
- |
1 |
3-41267280-A-C |
c.864A>C |
p.K288N |
Missense |
6/15 |
- |
2 |
3-41267280-A-T |
c.864A>T |
p.K288N |
Missense |
6/15 |
- |
1 |
3-41267274-CAACAA-C |
c.865_869del |
p.T289Cfs*2 |
Frameshift |
6/15 |
- |
1 |
3-41267281-AC-GG |
c.865_866delinsGG |
p.T289G |
Missense |
6/15 |
- |
1 |
3-41267282-C-T |
c.866C>T |
p.T289I |
Missense |
6/15 |
- |
1 |
3-41267284-AAAT-A |
c.868_870del |
p.N290del |
InFrameDeletion |
6/15 |
- |
1 |
3-41267287-G-A |
c.871G>A |
p.V291I |
Missense |
6/15 |
- |
1 |
3-41267287-G-GT |
c.873dup |
p.K292* |
Nonsense |
6/15 |
- |
1 |
3-41267290-AA-GC |
c.874_875delinsGC |
p.K292A |
Missense |
6/15 |
- |
1 |
3-41267290-A-G |
c.874A>G |
p.K292E |
Missense |
6/15 |
- |
12 |
3-41267291-A-C |
c.875A>C |
p.K292T |
Missense |
6/15 |
- |
7 |
3-41267292-A-C |
c.876A>C |
p.K292N |
Missense |
6/15 |
- |
2 |
3-41267292-A-T |
c.876A>T |
p.K292N |
Missense |
6/15 |
- |
4 |
3-41267293-T-A |
c.877T>A |
p.F293I |
Missense |
6/15 |
- |
2 |
3-41267293-TT-GA |
c.877_878delinsGA |
p.F293D |
Missense |
6/15 |
- |
1 |
3-41267295-C-A |
c.879C>A |
p.F293L |
Missense |
6/15 |
- |
1 |
3-41267295-C-T |
c.879C>T |
p.F293= |
Synonymous |
6/15 |
- |
1 |
3-41267296-CTTGGCTATTACGACAGACTGCCTTCAA-C |
c.880_906del |
p.L294_Q302del |
InFrameDeletion |
6/15 |
- |
1 |
3-41267296-T-G |
c.880T>G |
p.L294V |
Missense |
6/15 |
- |
2 |
3-41267295-CT-C |
c.881del |
p.L294Wfs*11 |
Frameshift |
6/15 |
- |
1 |
3-41267298-G-C |
c.882G>C |
p.L294F |
Missense |
6/15 |
- |
3 |
3-41267298-G-T |
c.882G>T |
p.L294F |
Missense |
6/15 |
- |
2 |
3-41267299-G-A |
c.883G>A |
p.A295T |
Missense |
6/15 |
- |
2 |
3-41267299-GCT-TGG |
c.883_885delinsTGG |
p.A295W |
Missense |
6/15 |
- |
2 |
3-41267300-C-A |
c.884C>A |
p.A295D |
Missense |
6/15 |
- |
2 |
3-41267300-C-G |
c.884C>G |
p.A295G |
Missense |
6/15 |
- |
2 |
3-41267300-C-T |
c.884C>T |
p.A295V |
Missense |
6/15 |
- |
1 |
3-41267302-A-G |
c.886A>G |
p.I296V |
Missense |
6/15 |
- |
2 |
3-41267302-ATT-TGG |
c.886_888delinsTGG |
p.I296W |
Missense |
6/15 |
- |
1 |
3-41267303-T-A |
c.887T>A |
p.I296N |
Missense |
6/15 |
- |
2 |
3-41267305-AC-GG |
c.889_890delinsGG |
p.T297G |
Missense |
6/15 |
- |
1 |
3-41267306-C-T |
c.890C>T |
p.T297M |
Missense |
6/15 |
- |
2 |
3-41267304-TACG-T |
c.891_893del |
p.T298del |
InFrameDeletion |
6/15 |
- |
1 |
3-41267308-AC-GA |
c.892_893delinsGA |
p.T298E |
Missense |
6/15 |
- |
1 |
3-41267308-A-G |
c.892A>G |
p.T298A |
Missense |
6/15 |
- |
2 |
3-41267309-CA-TG |
c.893_894inv |
p.T298M |
Missense |
6/15 |
- |
1 |
3-41267311-G-A |
c.895G>A |
p.D299N |
Missense |
6/15 |
- |
3 |
3-41267311-G-C |
c.895G>C |
p.D299H |
Missense |
6/15 |
- |
1 |
3-41267311-G-T |
c.895G>T |
p.D299Y |
Missense |
6/15 |
- |
1 |
3-41267312-A-G |
c.896A>G |
p.D299G |
Missense |
6/15 |
- |
1 |
3-41267315-G-T |
c.899G>T |
p.C300F |
Missense |
6/15 |
- |
1 |
3-41267316-C-T |
c.900C>T |
p.C300= |
Synonymous |
6/15 |
- |
1 |
3-41267317-C-T |
c.901C>T |
p.L301F |
Missense |
6/15 |
- |
1 |
3-41267318-CTTCAA-C |
c.902_906del |
p.L301Hfs*16 |
Frameshift |
6/15 |
- |
3 |
3-41267320-C-T |
c.904C>T |
p.Q302* |
Nonsense |
6/15 |
- |
1 |
3-41267322-A-C |
c.906A>C |
p.Q302H |
Missense |
6/15 |
- |
5 |
3-41267322-A-T |
c.906A>T |
p.Q302H |
Missense |
6/15 |
- |
3 |
3-41267324-T-A |
c.908T>A |
p.I303N |
Missense |
6/15 |
- |
1 |
3-41267325-T-G |
c.909T>G |
p.I303M |
Missense |
6/15 |
- |
7 |
3-41267329-G-A |
c.913G>A |
p.A305T |
Missense |
6/15 |
- |
1 |
3-41267330-C-G |
c.914C>G |
p.A305G |
Missense |
6/15 |
- |
5 |
3-41267330-C-T |
c.914C>T |
p.A305V |
Missense |
6/15 |
- |
1 |
3-41267332-TA-GC |
c.916_917delinsGC |
p.Y306A |
Missense |
6/15 |
- |
2 |
3-41267332-T-G |
c.916T>G |
p.Y306D |
Missense |
6/15 |
- |
1 |
3-41267333-A-C |
c.917A>C |
p.Y306S |
Missense |
6/15 |
- |
2 |
3-41267333-TA-T |
c.917del |
p.Y306Lfs*19 |
Frameshift |
6/15 |
- |
1 |
3-41267334-T-A |
c.918T>A |
p.Y306* |
Nonsense |
6/15 |
- |
1 |
3-41267334-T-G |
c.918T>G |
p.Y306* |
Nonsense |
6/15 |
- |
1 |
3-41267336-G-A |
c.920G>A |
p.G307D |
Missense |
6/15 |
- |
1 |
3-41267341-C-G |
c.925C>G |
p.Q309E |
Missense |
6/15 |
- |
1 |
3-41267341-C-T |
c.925C>T |
p.Q309* |
Nonsense |
6/15 |
- |
5 |
3-41267343-A-C |
c.927A>C |
p.Q309H |
Missense |
6/15 |
- |
1 |
3-41267343-A-T |
c.927A>T |
p.Q309H |
Missense |
6/15 |
- |
1 |
3-41267344-G-A |
c.928G>A |
p.E310K |
Missense |
6/15 |
- |
5 |
3-41267346-A-G |
c.930A>G |
p.E310= |
Synonymous |
6/15 |
- |
1 |
3-41267344-GA-G |
c.931del |
p.S311Afs*14 |
Frameshift |
6/15 |
- |
1 |
3-41267347-A-G |
c.931A>G |
p.S311G |
Missense |
6/15 |
- |
2 |
3-41267347-AG-GA |
c.931_932delinsGA |
p.S311D |
Missense |
6/15 |
- |
1 |
3-41267347-AG-GC |
c.931_932delinsGC |
p.S311A |
Missense |
6/15 |
- |
2 |
3-41267346-AAGC-A |
c.932_934del |
p.S311del |
InFrameDeletion |
6/15 |
- |
1 |
3-41267348-G-A |
c.932G>A |
p.S311N |
Missense |
6/15 |
- |
1 |
3-41267347-A-C |
c.931A>C |
p.S311R |
Missense |
6/15 |
- |
1 |
3-41267349-C-A |
c.933C>A |
p.S311R |
Missense |
6/15 |
- |
1 |
3-41267349-C-CT |
c.933_934insT |
p.K312* |
Nonsense |
6/15 |
- |
1 |
3-41267349-C-G |
c.933C>G |
p.S311R |
Missense |
6/15 |
- |
1 |
3-41267350-AA-GC |
c.934_935delinsGC |
p.K312A |
Missense |
6/15 |
- |
1 |
3-41267350-A-G |
c.934A>G |
p.K312E |
Missense |
6/15 |
- |
2 |
3-41267351-A-G |
c.935A>G |
p.K312R |
Missense |
6/15 |
- |
1 |
3-41267352-G-A |
c.936G>A |
p.K312= |
Synonymous |
6/15 |
- |
2 |
3-41267352-G-C |
c.936G>C |
p.K312N |
Missense |
6/15 |
- |
1 |
3-41267352-G-T |
c.936G>T |
p.K312N |
Missense |
6/15 |
- |
1 |
3-41267354-T-G |
c.936+2T>G |
- |
IntronicSNV |
- |
6/14 |
1 |
3-41267399-TC-T |
c.936+49del |
- |
IntronicDeletion |
- |
6/14 |
1 |
3-41267401-C-A |
c.936+49C>A |
- |
IntronicSNV |
- |
6/14 |
1 |
3-41267525-A-G |
c.936+173A>G |
- |
IntronicSNV |
- |
6/14 |
1 |
3-41267752-C-T |
c.936+400C>T |
- |
IntronicSNV |
- |
6/14 |
2 |
3-41268354-T-G |
c.937-345T>G |
- |
IntronicSNV |
- |
6/14 |
4 |
3-41268699-C-A |
c.937C>A |
p.L313I |
Missense |
7/15 |
- |
1 |
3-41268699-C-T |
c.937C>T |
p.L313F |
Missense |
7/15 |
- |
1 |
3-41268699-C-CT |
c.938dup |
p.I314Hfs*5 |
SpliceAcceptorInsertion |
7/15 |
- |
1 |
3-41268703-T-C |
c.941T>C |
p.I314T |
Missense |
7/15 |
- |
1 |
3-41268703-TC-AG |
c.941_942delinsAG |
p.I314K |
Missense |
7/15 |
- |
1 |
3-41268704-C-A |
c.942C>A |
p.I314= |
Synonymous |
7/15 |
- |
1 |
3-41268704-C-T |
c.942C>T |
p.I314= |
Synonymous |
7/15 |
- |
1 |
3-41268705-A-G |
c.943A>G |
p.I315V |
Missense |
7/15 |
- |
1 |
3-41268705-CATA-C |
c.943_945del |
p.I315del |
InFrameDeletion |
7/15 |
- |
1 |
3-41268706-T-C |
c.944T>C |
p.I315T |
Missense |
7/15 |
- |
1 |
3-41268708-C-A |
c.946C>A |
p.L316M |
Missense |
7/15 |
- |
1 |
3-41268709-T-C |
c.947T>C |
p.L316P |
Missense |
7/15 |
- |
1 |
3-41268710-G-A |
c.948G>A |
p.L316= |
Synonymous |
7/15 |
- |
1 |
3-41268712-C-T |
c.950C>T |
p.A317V |
Missense |
7/15 |
- |
2 |
3-41268712-GC-G |
c.950del |
p.A317Vfs*8 |
Frameshift |
7/15 |
- |
1 |
3-41268713-T-TA |
c.952dup |
p.S318Kfs*35 |
Frameshift |
7/15 |
- |
1 |
3-41268713-T-TAA |
c.952_953insAA |
p.S318Kfs*8 |
Frameshift |
7/15 |
- |
1 |
3-41268713-T-TAAA |
c.952_953insAAA |
p.A317_S318insK |
InFrameInsertion |
7/15 |
- |
1 |
3-41268714-AG-GA |
c.952_953delinsGA |
p.S318D |
Missense |
7/15 |
- |
1 |
3-41268714-AG-GC |
c.952_953delinsGC |
p.S318A |
Missense |
7/15 |
- |
2 |
3-41268714-AG-TT |
c.952_953delinsTT |
p.S318F |
Missense |
7/15 |
- |
1 |
3-41268715-G-A |
c.953G>A |
p.S318N |
Missense |
7/15 |
- |
3 |
3-41268717-G-A |
c.955G>A |
p.G319S |
Missense |
7/15 |
- |
2 |
3-41268717-G-T |
c.955G>T |
p.G319C |
Missense |
7/15 |
- |
3 |
3-41268718-G-T |
c.956G>T |
p.G319V |
Missense |
7/15 |
- |
1 |
3-41268718-GT-AG |
c.956_957delinsAG |
p.G319E |
Missense |
7/15 |
- |
2 |
3-41268714-AGTG-A |
c.957_959del |
p.G320del |
InFrameDeletion |
7/15 |
- |
1 |
3-41268720-G-A |
c.958G>A |
p.G320R |
Missense |
7/15 |
- |
1 |
3-41268720-GGA-TGT |
c.958_960delinsTGT |
p.G320C |
Missense |
7/15 |
- |
1 |
3-41268719-T-TG |
c.959dup |
p.P321Tfs*32 |
Frameshift |
7/15 |
- |
3 |
3-41268721-G-A |
c.959G>A |
p.G320E |
Missense |
7/15 |
- |
1 |
3-41268721-G-C |
c.959G>C |
p.G320A |
Missense |
7/15 |
- |
1 |
3-41268723-C-T |
c.961C>T |
p.P321S |
Missense |
7/15 |
- |
1 |
3-41268726-C-A |
c.964C>A |
p.Q322K |
Missense |
7/15 |
- |
1 |
3-41268726-C-T |
c.964C>T |
p.Q322* |
Nonsense |
7/15 |
- |
3 |
3-41268727-A-G |
c.965A>G |
p.Q322R |
Missense |
7/15 |
- |
1 |
3-41268729-G-C |
c.967G>C |
p.A323P |
Missense |
7/15 |
- |
5 |
3-41268730-C-T |
c.968C>T |
p.A323V |
Missense |
7/15 |
- |
2 |
3-41268735-G-A |
c.973G>A |
p.V325I |
Missense |
7/15 |
- |
2 |
3-41268735-G-C |
c.973G>C |
p.V325L |
Missense |
7/15 |
- |
1 |
3-41268736-T-C |
c.974T>C |
p.V325A |
Missense |
7/15 |
- |
1 |
3-41268738-A-C |
c.976A>C |
p.N326H |
Missense |
7/15 |
- |
1 |
3-41268736-T-TA |
c.977dup |
p.N326Kfs*27 |
Frameshift |
7/15 |
- |
2 |
3-41268739-A-G |
c.977A>G |
p.N326S |
Missense |
7/15 |
- |
1 |
3-41268739-A-T |
c.977A>T |
p.N326I |
Missense |
7/15 |
- |
1 |
3-41268741-A-G |
c.979A>G |
p.I327V |
Missense |
7/15 |
- |
1 |
3-41268741-A-T |
c.979A>T |
p.I327L |
Missense |
7/15 |
- |
1 |
3-41268742-T-C |
c.980T>C |
p.I327T |
Missense |
7/15 |
- |
2 |
3-41268745-T-C |
c.983T>C |
p.M328T |
Missense |
7/15 |
- |
1 |
3-41268745-T-G |
c.983T>G |
p.M328R |
Missense |
7/15 |
- |
1 |
3-41268746-G-A |
c.984G>A |
p.M328I |
Missense |
7/15 |
- |
4 |
3-41268746-G-C |
c.984G>C |
p.M328I |
Missense |
7/15 |
- |
5 |
3-41268746-G-T |
c.984G>T |
p.M328I |
Missense |
7/15 |
- |
6 |
3-41268747-AGG-TGT |
c.985_987delinsTGT |
p.R329C |
Missense |
7/15 |
- |
1 |
3-41268747-A-T |
c.985A>T |
p.R329W |
Missense |
7/15 |
- |
2 |
3-41268748-G-T |
c.986G>T |
p.R329M |
Missense |
7/15 |
- |
1 |
3-41268747-A-AG |
c.987dup |
p.T330Dfs*23 |
Frameshift |
7/15 |
- |
1 |
3-41268750-A-G |
c.988A>G |
p.T330A |
Missense |
7/15 |
- |
1 |
3-41268750-A-T |
c.988A>T |
p.T330S |
Missense |
7/15 |
- |
1 |
3-41268751-CC-TG |
c.989_990delinsTG |
p.T330M |
Missense |
7/15 |
- |
1 |
3-41268751-C-G |
c.989C>G |
p.T330S |
Missense |
7/15 |
- |
1 |
3-41268751-C-T |
c.989C>T |
p.T330I |
Missense |
7/15 |
- |
2 |
3-41268752-C-A |
c.990C>A |
p.T330= |
Synonymous |
7/15 |
- |
1 |
3-41268753-T-C |
c.991T>C |
p.Y331H |
Missense |
7/15 |
- |
1 |
3-41268754-A-G |
c.992A>G |
p.Y331C |
Missense |
7/15 |
- |
1 |
3-41268754-A-T |
c.992A>T |
p.Y331F |
Missense |
7/15 |
- |
1 |
3-41268755-T-A |
c.993T>A |
p.Y331* |
Nonsense |
7/15 |
- |
1 |
3-41268755-T-G |
c.993T>G |
p.Y331* |
Nonsense |
7/15 |
- |
1 |
3-41268757-C-A |
c.995C>A |
p.T332N |
Missense |
7/15 |
- |
1 |
3-41268757-C-T |
c.995C>T |
p.T332I |
Missense |
7/15 |
- |
1 |
3-41268757-CT-C |
c.997del |
p.Y333Tfs*12 |
Frameshift |
7/15 |
- |
1 |
3-41268759-TA-CC |
c.997_998delinsCC |
p.Y333P |
Missense |
7/15 |
- |
1 |
3-41268759-T-TA |
c.998dup |
p.Y333* |
Nonsense |
7/15 |
- |
12 |
3-41268760-A-T |
c.998A>T |
p.Y333F |
Missense |
7/15 |
- |
15 |
3-41268761-AC-A |
c.999del |
p.Y333* |
Frameshift |
7/15 |
- |
2 |
3-41268761-C-A |
c.999C>A |
p.Y333* |
Nonsense |
7/15 |
- |
7 |
3-41268761-C-CT |
c.999_1000insT |
p.E334* |
Nonsense |
7/15 |
- |
1 |
3-41268761-C-G |
c.999C>G |
p.Y333* |
Nonsense |
7/15 |
- |
11 |
3-41268761-C-T |
c.999C>T |
p.Y333= |
Synonymous |
7/15 |
- |
1 |
3-41268762-G-A |
c.1000G>A |
p.E334K |
Missense |
7/15 |
- |
17 |
3-41268763-A-C |
c.1001A>C |
p.E334A |
Missense |
7/15 |
- |
7 |
3-41268763-A-G |
c.1001A>G |
p.E334G |
Missense |
7/15 |
- |
1 |
3-41268764-A-AT |
c.1002_1003insT |
p.K335* |
Nonsense |
7/15 |
- |
3 |
3-41268764-A-C |
c.1002A>C |
p.E334D |
Missense |
7/15 |
- |
2 |
3-41268764-A-T |
c.1002A>T |
p.E334D |
Missense |
7/15 |
- |
2 |
3-41268765-A-C |
c.1003A>C |
p.K335Q |
Missense |
7/15 |
- |
1 |
3-41268766-A-C |
c.1004A>C |
p.K335T |
Missense |
7/15 |
- |
31 |
3-41268766-A-T |
c.1004A>T |
p.K335I |
Missense |
7/15 |
- |
55 |
3-41268762-GA-G |
c.1005del |
p.K335Nfs*10 |
Frameshift |
7/15 |
- |
1 |
3-41268762-G-GA |
c.1005dup |
p.L336Tfs*17 |
Frameshift |
7/15 |
- |
1 |
3-41268767-A-C |
c.1005A>C |
p.K335N |
Missense |
7/15 |
- |
1 |
3-41268769-T-C |
c.1007T>C |
p.L336P |
Missense |
7/15 |
- |
2 |
3-41268770-A-C |
c.1008A>C |
p.L336= |
Synonymous |
7/15 |
- |
1 |
3-41268772-T-C |
c.1010T>C |
p.L337P |
Missense |
7/15 |
- |
1 |
3-41268775-G-A |
c.1013G>A |
p.W338* |
Nonsense |
7/15 |
- |
1 |
3-41268775-G-C |
c.1013G>C |
p.W338S |
Missense |
7/15 |
- |
1 |
3-41268775-G-T |
c.1013G>T |
p.W338L |
Missense |
7/15 |
- |
2 |
3-41268776-G-A |
c.1014G>A |
p.W338* |
Nonsense |
7/15 |
- |
2 |
3-41268778-C-A |
c.1016C>A |
p.T339N |
Missense |
7/15 |
- |
7 |
3-41268778-CCACAAGCAG-T |
c.1016_1025delinsT |
p.T339_R342delinsI |
MultiAAMissense |
7/15 |
- |
2 |
3-41268778-CC-TG |
c.1016_1017delinsTG |
p.T339M |
Missense |
7/15 |
- |
1 |
3-41268778-C-T |
c.1016C>T |
p.T339I |
Missense |
7/15 |
- |
2 |
3-41268780-A-C |
c.1018A>C |
p.T340P |
Missense |
7/15 |
- |
2 |
3-41268781-C-T |
c.1019C>T |
p.T340I |
Missense |
7/15 |
- |
1 |
3-41268780-ACAAG-A |
c.1021_1024del |
p.S341Efs*3 |
Frameshift |
7/15 |
- |
2 |
3-41268783-AG-CT |
c.1021_1022inv |
p.S341L |
Missense |
7/15 |
- |
1 |
3-41268784-AGC-A |
c.1022_1023del |
p.S341Kfs*11 |
Frameshift |
7/15 |
- |
1 |
3-41268784-G-A |
c.1022G>A |
p.S341N |
Missense |
7/15 |
- |
2 |
3-41268784-G-C |
c.1022G>C |
p.S341T |
Missense |
7/15 |
- |
1 |
3-41268785-C-CT |
c.1023_1024insT |
p.R342* |
Nonsense |
7/15 |
- |
1 |
3-41268785-C-T |
c.1023C>T |
p.S341= |
Synonymous |
7/15 |
- |
1 |
3-41268786-AG-CA |
c.1024_1025delinsCA |
p.R342Q |
Missense |
7/15 |
- |
1 |
3-41268786-AG-CC |
c.1024_1025delinsCC |
p.R342P |
Missense |
7/15 |
- |
2 |
3-41268786-A-T |
c.1024A>T |
p.R342* |
Nonsense |
7/15 |
- |
2 |
3-41268786-CA-C |
c.1024del |
p.R342Efs*3 |
Frameshift |
7/15 |
- |
1 |
3-41268787-G-A |
c.1025G>A |
p.R342K |
Missense |
7/15 |
- |
9 |
3-41268787-G-C |
c.1025G>C |
p.R342T |
Missense |
7/15 |
- |
1 |
3-41268787-G-T |
c.1025G>T |
p.R342I |
Missense |
7/15 |
- |
3 |
3-41268788-A-G |
c.1026A>G |
p.R342= |
Synonymous |
7/15 |
- |
2 |
3-41268789-GTG-ATC |
c.1027_1029delinsATC |
p.V343I |
Missense |
7/15 |
- |
1 |
3-41268790-T-TG |
c.1029dup |
p.L344Afs*9 |
Frameshift |
7/15 |
- |
1 |
3-41268792-C-A |
c.1030C>A |
p.L344M |
Missense |
7/15 |
- |
1 |
3-41268792-CTG-TTT |
c.1030_1032delinsTTT |
p.L344F |
Missense |
7/15 |
- |
2 |
3-41268792-C-T |
c.1030C>T |
p.L344= |
Synonymous |
7/15 |
- |
2 |
3-41268794-G-A |
c.1032G>A |
p.L344= |
Synonymous |
7/15 |
- |
1 |
3-41268794-G-C |
c.1032G>C |
p.L344= |
Synonymous |
7/15 |
- |
1 |
3-41268794-G-T |
c.1032G>T |
p.L344= |
Synonymous |
7/15 |
- |
1 |
3-41268795-AA-GC |
c.1033_1034delinsGC |
p.K345A |
Missense |
7/15 |
- |
4 |
3-41268795-A-C |
c.1033A>C |
p.K345Q |
Missense |
7/15 |
- |
1 |
3-41268794-GA-G |
c.1034del |
p.K345Rfs*14 |
Frameshift |
7/15 |
- |
1 |
3-41268796-A-G |
c.1034A>G |
p.K345R |
Missense |
7/15 |
- |
2 |
3-41268797-G-A |
c.1035G>A |
p.K345= |
Synonymous |
7/15 |
- |
1 |
3-41268797-G-C |
c.1035G>C |
p.K345N |
Missense |
7/15 |
- |
2 |
3-41268797-G-T |
c.1035G>T |
p.K345N |
Missense |
7/15 |
- |
1 |
3-41268798-G-C |
c.1036G>C |
p.V346L |
Missense |
7/15 |
- |
1 |
3-41268798-G-T |
c.1036G>T |
p.V346L |
Missense |
7/15 |
- |
1 |
3-41268799-T-TTGC |
c.1037_1038insTGC |
p.V346_L347insA |
InFrameInsertion |
7/15 |
- |
1 |
3-41268798-GTGCTATC-G |
c.1039_1045del |
p.L347Sfs*10 |
Frameshift |
7/15 |
- |
1 |
3-41268802-T-C |
c.1040T>C |
p.L347P |
Missense |
7/15 |
- |
3 |
3-41268800-GCTAT-G |
c.1041_1044del |
p.V349Afs*9 |
Frameshift |
7/15 |
- |
8 |
3-41268801-C-CTAGAAAGATATATATA |
c.1041_1042insGAAAGATATATATATA |
p.S348Efs*10 |
Frameshift |
7/15 |
- |
1 |
3-41268804-T-A |
c.1042T>A |
p.S348T |
Missense |
7/15 |
- |
2 |
3-41268803-ATC-A |
c.1043_1044del |
p.S348Cfs*4 |
Frameshift |
7/15 |
- |
3 |
3-41268805-C-A |
c.1043C>A |
p.S348Y |
Missense |
7/15 |
- |
3 |
3-41268805-C-T |
c.1043C>T |
p.S348F |
Missense |
7/15 |
- |
1 |
3-41268805-C-CT |
c.1044dup |
p.V349Cfs*4 |
Frameshift |
7/15 |
- |
1 |
3-41268806-T-A |
c.1044T>A |
p.S348= |
Synonymous |
7/15 |
- |
7 |
3-41268806-T-C |
c.1044T>C |
p.S348= |
Synonymous |
7/15 |
- |
6 |
3-41268806-T-G |
c.1044T>G |
p.S348= |
Synonymous |
7/15 |
- |
6 |
3-41268803-ATCTG-A |
c.1046_1049del |
p.V349Afs*9 |
Frameshift |
7/15 |
- |
1 |
3-41268809-C-A |
c.1047C>A |
p.V349= |
Synonymous |
7/15 |
- |
5 |
3-41268809-C-G |
c.1047C>G |
p.V349= |
Synonymous |
7/15 |
- |
4 |
3-41268809-C-T |
c.1047C>T |
p.V349= |
Synonymous |
7/15 |
- |
4 |
3-41268810-T-A |
c.1048T>A |
p.C350S |
Missense |
7/15 |
- |
1 |
3-41268810-TG-AC |
c.1048_1049delinsAC |
p.C350T |
Missense |
7/15 |
- |
1 |
3-41268811-G-C |
c.1049G>C |
p.C350S |
Missense |
7/15 |
- |
1 |
3-41268811-G-GC |
c.1050dup |
p.S351Lfs*2 |
Frameshift |
7/15 |
- |
1 |
3-41268814-C-G |
c.1052C>G |
p.S351C |
Missense |
7/15 |
- |
1 |
3-41268814-C-T |
c.1052C>T |
p.S351F |
Missense |
7/15 |
- |
2 |
3-41268815-T-A |
c.1053T>A |
p.S351= |
Synonymous |
7/15 |
- |
1 |
3-41268816-AG-GC |
c.1054_1055delinsGC |
p.S352A |
Missense |
7/15 |
- |
1 |
3-41268816-A-T |
c.1054A>T |
p.S352C |
Missense |
7/15 |
- |
1 |
3-41268817-G-A |
c.1055G>A |
p.S352N |
Missense |
7/15 |
- |
6 |
3-41268817-G-C |
c.1055G>C |
p.S352T |
Missense |
7/15 |
- |
1 |
3-41268816-A-C |
c.1054A>C |
p.S352R |
Missense |
7/15 |
- |
1 |
3-41268818-T-A |
c.1056T>A |
p.S352R |
Missense |
7/15 |
- |
1 |
3-41268818-T-G |
c.1056T>G |
p.S352R |
Missense |
7/15 |
- |
1 |
3-41268819-A-G |
c.1057A>G |
p.N353D |
Missense |
7/15 |
- |
1 |
3-41268822-A-C |
c.1060A>C |
p.K354Q |
Missense |
7/15 |
- |
4 |
3-41268823-A-C |
c.1061A>C |
p.K354T |
Missense |
7/15 |
- |
11 |
3-41268823-A-G |
c.1061A>G |
p.K354R |
Missense |
7/15 |
- |
2 |
3-41268824-G-C |
c.1062G>C |
p.K354N |
Missense |
7/15 |
- |
2 |
3-41268824-G-T |
c.1062G>T |
p.K354N |
Missense |
7/15 |
- |
2 |
3-41268824-GC-G |
c.1064del |
p.P355Rfs*4 |
Frameshift |
7/15 |
- |
1 |
3-41268826-C-T |
c.1064C>T |
p.P355L |
Missense |
7/15 |
- |
7 |
3-41268827-G-A |
c.1065G>A |
p.P355= |
Synonymous |
7/15 |
- |
2 |
3-41268827-G-C |
c.1065G>C |
p.P355= |
Synonymous |
7/15 |
- |
2 |
3-41268827-G-T |
c.1065G>T |
p.P355= |
Synonymous |
7/15 |
- |
2 |
3-41268829-C-G |
c.1067C>G |
p.A356G |
Missense |
7/15 |
- |
1 |
3-41268829-C-T |
c.1067C>T |
p.A356V |
Missense |
7/15 |
- |
1 |
3-41268831-A-C |
c.1069A>C |
p.I357L |
Missense |
7/15 |
- |
1 |
3-41268831-A-G |
c.1069A>G |
p.I357V |
Missense |
7/15 |
- |
1 |
3-41268835-T-A |
c.1073T>A |
p.V358E |
Missense |
7/15 |
- |
1 |
3-41268835-T-C |
c.1073T>C |
p.V358A |
Missense |
7/15 |
- |
1 |
3-41268836-A-C |
c.1074A>C |
p.V358= |
Synonymous |
7/15 |
- |
1 |
3-41268837-G-A |
c.1075G>A |
p.E359K |
Missense |
7/15 |
- |
3 |
3-41268840-G-A |
c.1078G>A |
p.A360T |
Missense |
7/15 |
- |
1 |
3-41268841-C-T |
c.1079C>T |
p.A360V |
Missense |
7/15 |
- |
1 |
3-41268842-T-A |
c.1080T>A |
p.A360= |
Synonymous |
7/15 |
- |
2 |
3-41268842-T-C |
c.1080T>C |
p.A360= |
Synonymous |
7/15 |
- |
3 |
3-41268842-T-G |
c.1080T>G |
p.A360= |
Synonymous |
7/15 |
- |
1 |
3-41268843-G-A |
c.1081G>A |
p.G361S |
Missense |
7/15 |
- |
3 |
3-41268844-G-C |
c.1081+1G>C |
- |
IntronicSNV |
- |
7/14 |
1 |
3-41268844-G-T |
c.1081+1G>T |
- |
IntronicSNV |
- |
7/14 |
3 |
3-41268845-T-C |
c.1081+2T>C |
- |
IntronicSNV |
- |
7/14 |
1 |
3-41268880-C-G |
c.1081+37C>G |
- |
IntronicSNV |
- |
7/14 |
1 |
3-41269152-A-G |
c.1081+309A>G |
- |
IntronicSNV |
- |
7/14 |
1 |
3-41269152-A-T |
c.1081+309A>T |
- |
IntronicSNV |
- |
7/14 |
1 |
3-41272081-C-A |
c.1082-2751C>A |
- |
IntronicSNV |
- |
7/14 |
13 |
3-41274072-C-G |
c.1082-760C>G |
- |
IntronicSNV |
- |
7/14 |
3 |
3-41274270-A-T |
c.1082-562A>T |
- |
IntronicSNV |
- |
7/14 |
3 |
3-41274477-A-G |
c.1082-355A>G |
- |
IntronicSNV |
- |
7/14 |
1 |
3-41274764-C-A |
c.1082-68C>A |
- |
IntronicSNV |
- |
7/14 |
7 |
3-41274764-C-G |
c.1082-68C>G |
- |
IntronicSNV |
- |
7/14 |
7 |
3-41274764-C-T |
c.1082-68C>T |
- |
IntronicSNV |
- |
7/14 |
7 |
3-41274815-C-G |
c.1082-17C>G |
- |
IntronicSNV |
- |
7/14 |
6 |
3-41274830-AG-A |
c.1082del |
p.G361Vfs*6 |
Frameshift |
8/15 |
- |
1 |
3-41274832-G-A |
c.1082G>A |
p.G361D |
Missense |
8/15 |
- |
3 |
3-41274832-G-T |
c.1082G>T |
p.G361V |
Missense |
8/15 |
- |
1 |
3-41274834-G-A |
c.1084G>A |
p.G362R |
Missense |
8/15 |
- |
1 |
3-41274837-A-G |
c.1087A>G |
p.M363V |
Missense |
8/15 |
- |
1 |
3-41274840-C-T |
c.1090C>T |
p.Q364* |
Nonsense |
8/15 |
- |
1 |
3-41274843-G-A |
c.1093G>A |
p.A365T |
Missense |
8/15 |
- |
1 |
3-41274843-GC-CG |
c.1093_1094delinsCG |
p.A365R |
Missense |
8/15 |
- |
1 |
3-41274843-GC-TG |
c.1093_1094delinsTG |
p.A365C |
Missense |
8/15 |
- |
1 |
3-41274844-C-A |
c.1094C>A |
p.A365D |
Missense |
8/15 |
- |
1 |
3-41274845-T-A |
c.1095T>A |
p.A365= |
Synonymous |
8/15 |
- |
1 |
3-41274845-T-C |
c.1095T>C |
p.A365= |
Synonymous |
8/15 |
- |
1 |
3-41274845-T-G |
c.1095T>G |
p.A365= |
Synonymous |
8/15 |
- |
1 |
3-41274846-T-A |
c.1096T>A |
p.L366I |
Missense |
8/15 |
- |
1 |
3-41274846-T-C |
c.1096T>C |
p.L366= |
Synonymous |
8/15 |
- |
1 |
3-41274848-A-G |
c.1098A>G |
p.L366= |
Synonymous |
8/15 |
- |
1 |
3-41274847-T-G |
c.1097T>G |
p.L366* |
Nonsense |
8/15 |
- |
1 |
3-41274849-G-A |
c.1099G>A |
p.G367R |
Missense |
8/15 |
- |
2 |
3-41274849-G-C |
c.1099G>C |
p.G367R |
Missense |
8/15 |
- |
2 |
3-41274850-G-T |
c.1100G>T |
p.G367V |
Missense |
8/15 |
- |
8 |
3-41274852-C-T |
c.1102C>T |
p.L368F |
Missense |
8/15 |
- |
1 |
3-41274853-T-A |
c.1103T>A |
p.L368H |
Missense |
8/15 |
- |
5 |
3-41274854-T-C |
c.1104T>C |
p.L368= |
Synonymous |
8/15 |
- |
1 |
3-41274855-C-T |
c.1105C>T |
p.H369Y |
Missense |
8/15 |
- |
4 |
3-41274855-TC-T |
c.1105del |
p.H369Tfs*2 |
Frameshift |
8/15 |
- |
1 |
3-41274856-A-G |
c.1106A>G |
p.H369R |
Missense |
8/15 |
- |
1 |
3-41274857-C-T |
c.1107C>T |
p.H369= |
Synonymous |
8/15 |
- |
1 |
3-41274858-C-A |
c.1108C>A |
p.L370M |
Missense |
8/15 |
- |
2 |
3-41274859-T-A |
c.1109T>A |
p.L370Q |
Missense |
8/15 |
- |
1 |
3-41274860-G-T |
c.1110G>T |
p.L370= |
Synonymous |
8/15 |
- |
1 |
3-41274861-ACA-TGT |
c.1111_1113inv |
p.T371C |
Missense |
8/15 |
- |
1 |
3-41274861-A-G |
c.1111A>G |
p.T371A |
Missense |
8/15 |
- |
1 |
3-41274862-CA-TG |
c.1112_1113inv |
p.T371M |
Missense |
8/15 |
- |
1 |
3-41274862-C-T |
c.1112C>T |
p.T371I |
Missense |
8/15 |
- |
1 |
3-41274863-A-AT |
c.1113_1114insT |
p.D372* |
Nonsense |
8/15 |
- |
1 |
3-41274863-A-AG |
c.1114dup |
p.D372Gfs*23 |
Frameshift |
8/15 |
- |
1 |
3-41274864-G-A |
c.1114G>A |
p.D372N |
Missense |
8/15 |
- |
1 |
3-41274867-C-A |
c.1117C>A |
p.P373T |
Missense |
8/15 |
- |
2 |
3-41274867-C-G |
c.1117C>G |
p.P373A |
Missense |
8/15 |
- |
3 |
3-41274867-C-T |
c.1117C>T |
p.P373S |
Missense |
8/15 |
- |
9 |
3-41274868-C-G |
c.1118C>G |
p.P373R |
Missense |
8/15 |
- |
1 |
3-41274870-AG-GC |
c.1120_1121delinsGC |
p.S374A |
Missense |
8/15 |
- |
2 |
3-41274871-G-A |
c.1121G>A |
p.S374N |
Missense |
8/15 |
- |
1 |
3-41274872-T-C |
c.1122T>C |
p.S374= |
Synonymous |
8/15 |
- |
1 |
3-41274873-C-CCCTGAACAAG |
c.1123_1124insCCTGAACAAG |
p.Q375Pfs*2 |
Frameshift |
8/15 |
- |
2 |
3-41274873-C-T |
c.1123C>T |
p.Q375* |
Nonsense |
8/15 |
- |
1 |
3-41274874-A-G |
c.1124A>G |
p.Q375R |
Missense |
8/15 |
- |
2 |
3-41274875-A-C |
c.1125A>C |
p.Q375H |
Missense |
8/15 |
- |
1 |
3-41274875-A-G |
c.1125A>G |
p.Q375= |
Synonymous |
8/15 |
- |
1 |
3-41274875-A-T |
c.1125A>T |
p.Q375H |
Missense |
8/15 |
- |
1 |
3-41274876-CG-AT |
c.1126_1127delinsAT |
p.R376I |
Missense |
8/15 |
- |
1 |
3-41274876-C-T |
c.1126C>T |
p.R376C |
Missense |
8/15 |
- |
4 |
3-41274877-G-A |
c.1127G>A |
p.R376H |
Missense |
8/15 |
- |
18 |
3-41274877-G-T |
c.1127G>T |
p.R376L |
Missense |
8/15 |
- |
1 |
3-41274878-T-C |
c.1128T>C |
p.R376= |
Synonymous |
8/15 |
- |
1 |
3-41274879-C-A |
c.1129C>A |
p.L377I |
Missense |
8/15 |
- |
2 |
3-41274881-T-A |
c.1131T>A |
p.L377= |
Synonymous |
8/15 |
- |
1 |
3-41274881-T-C |
c.1131T>C |
p.L377= |
Synonymous |
8/15 |
- |
1 |
3-41274881-T-G |
c.1131T>G |
p.L377= |
Synonymous |
8/15 |
- |
1 |
3-41274882-G-A |
c.1132G>A |
p.V378I |
Missense |
8/15 |
- |
1 |
3-41274883-T-C |
c.1133T>C |
p.V378A |
Missense |
8/15 |
- |
1 |
3-41274884-T-A |
c.1134T>A |
p.V378= |
Synonymous |
8/15 |
- |
1 |
3-41274884-T-C |
c.1134T>C |
p.V378= |
Synonymous |
8/15 |
- |
1 |
3-41274884-T-G |
c.1134T>G |
p.V378= |
Synonymous |
8/15 |
- |
1 |
3-41274885-C-A |
c.1135C>A |
p.Q379K |
Missense |
8/15 |
- |
2 |
3-41274885-C-G |
c.1135C>G |
p.Q379E |
Missense |
8/15 |
- |
1 |
3-41274885-C-T |
c.1135C>T |
p.Q379* |
Nonsense |
8/15 |
- |
2 |
3-41274886-A-G |
c.1136A>G |
p.Q379R |
Missense |
8/15 |
- |
1 |
3-41274889-A-G |
c.1139A>G |
p.N380S |
Missense |
8/15 |
- |
5 |
3-41274889-A-T |
c.1139A>T |
p.N380I |
Missense |
8/15 |
- |
2 |
3-41274890-C-A |
c.1140C>A |
p.N380K |
Missense |
8/15 |
- |
6 |
3-41274890-C-G |
c.1140C>G |
p.N380K |
Missense |
8/15 |
- |
6 |
3-41274891-T-A |
c.1141T>A |
p.C381S |
Missense |
8/15 |
- |
1 |
3-41274891-T-C |
c.1141T>C |
p.C381R |
Missense |
8/15 |
- |
4 |
3-41274892-G-C |
c.1142G>C |
p.C381S |
Missense |
8/15 |
- |
2 |
3-41274892-G-T |
c.1142G>T |
p.C381F |
Missense |
8/15 |
- |
1 |
3-41274894-C-T |
c.1144C>T |
p.L382F |
Missense |
8/15 |
- |
2 |
3-41274895-T-C |
c.1145T>C |
p.L382P |
Missense |
8/15 |
- |
4 |
3-41274897-T-A |
c.1147T>A |
p.W383R |
Missense |
8/15 |
- |
14 |
3-41274897-T-C |
c.1147T>C |
p.W383R |
Missense |
8/15 |
- |
23 |
3-41274897-T-G |
c.1147T>G |
p.W383G |
Missense |
8/15 |
- |
25 |
3-41274897-TG-GC |
c.1147_1148delinsGC |
p.W383A |
Missense |
8/15 |
- |
5 |
3-41274898-G-A |
c.1148G>A |
p.W383* |
Nonsense |
8/15 |
- |
2 |
3-41274898-G-C |
c.1148G>C |
p.W383S |
Missense |
8/15 |
- |
7 |
3-41274898-G-T |
c.1148G>T |
p.W383L |
Missense |
8/15 |
- |
1 |
3-41274899-G-A |
c.1149G>A |
p.W383* |
Nonsense |
8/15 |
- |
1 |
3-41274899-G-C |
c.1149G>C |
p.W383C |
Missense |
8/15 |
- |
9 |
3-41274899-G-T |
c.1149G>T |
p.W383C |
Missense |
8/15 |
- |
13 |
3-41274902-T-A |
c.1152T>A |
p.T384= |
Synonymous |
8/15 |
- |
1 |
3-41274902-T-C |
c.1152T>C |
p.T384= |
Synonymous |
8/15 |
- |
1 |
3-41274902-T-G |
c.1152T>G |
p.T384= |
Synonymous |
8/15 |
- |
1 |
3-41274903-C-A |
c.1153C>A |
p.L385I |
Missense |
8/15 |
- |
1 |
3-41274903-C-T |
c.1153C>T |
p.L385F |
Missense |
8/15 |
- |
2 |
3-41274903-C-CT |
c.1154dup |
p.R386Qfs*9 |
Frameshift |
8/15 |
- |
1 |
3-41274905-C-A |
c.1155C>A |
p.L385= |
Synonymous |
8/15 |
- |
4 |
3-41274905-C-G |
c.1155C>G |
p.L385= |
Synonymous |
8/15 |
- |
4 |
3-41274905-C-T |
c.1155C>T |
p.L385= |
Synonymous |
8/15 |
- |
6 |
3-41274906-A-G |
c.1156A>G |
p.R386G |
Missense |
8/15 |
- |
2 |
3-41274906-AG-CT |
c.1156_1157inv |
p.R386L |
Missense |
8/15 |
- |
1 |
3-41274906-AG-TA |
c.1156_1157delinsTA |
p.R386* |
Nonsense |
8/15 |
- |
1 |
3-41274906-A-T |
c.1156A>T |
p.R386W |
Missense |
8/15 |
- |
1 |
3-41274907-G-A |
c.1157G>A |
p.R386K |
Missense |
8/15 |
- |
1 |
3-41274907-G-T |
c.1157G>T |
p.R386M |
Missense |
8/15 |
- |
2 |
3-41274906-AG-A |
c.1158del |
p.N387Ifs*28 |
Frameshift |
8/15 |
- |
1 |
3-41274909-A-T |
c.1159A>T |
p.N387Y |
Missense |
8/15 |
- |
5 |
3-41274910-A-G |
c.1160A>G |
p.N387S |
Missense |
8/15 |
- |
4 |
3-41274910-A-T |
c.1160A>T |
p.N387I |
Missense |
8/15 |
- |
11 |
3-41274911-T-A |
c.1161T>A |
p.N387K |
Missense |
8/15 |
- |
54 |
3-41274911-T-G |
c.1161T>G |
p.N387K |
Missense |
8/15 |
- |
42 |
3-41274913-T-C |
c.1163T>C |
p.L388P |
Missense |
8/15 |
- |
5 |
3-41274912-CTT-C |
c.1164_1165del |
p.S389Rfs*5 |
Frameshift |
8/15 |
- |
1 |
3-41274912-CT-C |
c.1165del |
p.S389Qfs*26 |
Frameshift |
8/15 |
- |
1 |
3-41274915-T-C |
c.1165T>C |
p.S389P |
Missense |
8/15 |
- |
1 |
3-41274915-T-G |
c.1165T>G |
p.S389A |
Missense |
8/15 |
- |
1 |
3-41274916-C-T |
c.1166C>T |
p.S389L |
Missense |
8/15 |
- |
3 |
3-41274918-G-A |
c.1168G>A |
p.D390N |
Missense |
8/15 |
- |
1 |
3-41274918-G-C |
c.1168G>C |
p.D390H |
Missense |
8/15 |
- |
1 |
3-41274918-G-T |
c.1168G>T |
p.D390Y |
Missense |
8/15 |
- |
2 |
3-41274920-T-A |
c.1170T>A |
p.D390E |
Missense |
8/15 |
- |
4 |
3-41274920-T-G |
c.1170T>G |
p.D390E |
Missense |
8/15 |
- |
8 |
3-41274921-G-T |
c.1171G>T |
p.A391S |
Missense |
8/15 |
- |
4 |
3-41274922-C-T |
c.1172C>T |
p.A391V |
Missense |
8/15 |
- |
1 |
3-41274922-CT-AG |
c.1172_1173inv |
p.A391E |
Missense |
8/15 |
- |
1 |
3-41274924-G-A |
c.1174G>A |
p.A392T |
Missense |
8/15 |
- |
2 |
3-41274924-G-T |
c.1174G>T |
p.A392S |
Missense |
8/15 |
- |
1 |
3-41274925-C-G |
c.1175C>G |
p.A392G |
Missense |
8/15 |
- |
1 |
3-41274925-C-T |
c.1175C>T |
p.A392V |
Missense |
8/15 |
- |
2 |
3-41274925-C-CA |
c.1177dup |
p.T393Nfs*2 |
Frameshift |
8/15 |
- |
1 |
3-41274927-A-C |
c.1177A>C |
p.T393P |
Missense |
8/15 |
- |
1 |
3-41274927-AC-GA |
c.1177_1178delinsGA |
p.T393D |
Missense |
8/15 |
- |
1 |
3-41274927-A-G |
c.1177A>G |
p.T393A |
Missense |
8/15 |
- |
5 |
3-41274926-AACTAAACAGGTAAATTCTG-A |
c.1178_1185+11del |
- |
SpliceDonorDeletion |
8/15 |
8/14 |
2 |
3-41274928-C-A |
c.1178C>A |
p.T393N |
Missense |
8/15 |
- |
1 |
3-41274930-A-G |
c.1180A>G |
p.K394E |
Missense |
8/15 |
- |
2 |
3-41274931-A-G |
c.1181A>G |
p.K394R |
Missense |
8/15 |
- |
1 |
3-41274932-A-C |
c.1182A>C |
p.K394N |
Missense |
8/15 |
- |
2 |
3-41274932-A-G |
c.1182A>G |
p.K394= |
Synonymous |
8/15 |
- |
1 |
3-41274932-A-T |
c.1182A>T |
p.K394N |
Missense |
8/15 |
- |
2 |
3-41274932-A-AC |
c.1183dup |
p.Q395Pfs*19 |
SpliceDonorInsertion |
8/15 |
- |
1 |
3-41274933-C-T |
c.1183C>T |
p.Q395* |
Nonsense |
8/15 |
- |
3 |
3-41274934-CAG-C |
c.1184_1185del |
p.Q395Rfs*18 |
SpliceDonorDeletion |
8/15 |
- |
1 |
3-41274935-G-A |
c.1185G>A |
p.Q395= |
Synonymous |
8/15 |
- |
1 |
3-41274939-A-G |
c.1185+4A>G |
- |
IntronicSNV |
- |
8/14 |
1 |
3-41275020-G-A |
c.1186G>A |
p.E396K |
Missense |
9/15 |
- |
1 |
3-41275021-A-T |
c.1187A>T |
p.E396V |
Missense |
9/15 |
- |
1 |
3-41275022-A-C |
c.1188A>C |
p.E396D |
Missense |
9/15 |
- |
5 |
3-41275022-A-G |
c.1188A>G |
p.E396= |
Synonymous |
9/15 |
- |
1 |
3-41275022-A-T |
c.1188A>T |
p.E396D |
Missense |
9/15 |
- |
4 |
3-41275023-GGG-TGT |
c.1189_1191delinsTGT |
p.G397C |
Missense |
9/15 |
- |
1 |
3-41275024-G-A |
c.1190G>A |
p.G397E |
Missense |
9/15 |
- |
1 |
3-41275024-G-T |
c.1190G>T |
p.G397V |
Missense |
9/15 |
- |
2 |
3-41275025-G-C |
c.1191G>C |
p.G397= |
Synonymous |
9/15 |
- |
2 |
3-41275026-GAT-G |
c.1192_1193del |
p.M398Gfs*15 |
Frameshift |
9/15 |
- |
1 |
3-41275027-T-C |
c.1193T>C |
p.M398T |
Missense |
9/15 |
- |
1 |
3-41275028-G-A |
c.1194G>A |
p.M398I |
Missense |
9/15 |
- |
2 |
3-41275028-G-C |
c.1194G>C |
p.M398I |
Missense |
9/15 |
- |
1 |
3-41275028-G-T |
c.1194G>T |
p.M398I |
Missense |
9/15 |
- |
1 |
3-41275029-G-A |
c.1195G>A |
p.E399K |
Missense |
9/15 |
- |
2 |
3-41275030-A-C |
c.1196A>C |
p.E399A |
Missense |
9/15 |
- |
4 |
3-41275032-G-A |
c.1198G>A |
p.G400S |
Missense |
9/15 |
- |
1 |
3-41275033-G-A |
c.1199G>A |
p.G400D |
Missense |
9/15 |
- |
1 |
3-41275033-G-C |
c.1199G>C |
p.G400A |
Missense |
9/15 |
- |
1 |
3-41275033-G-T |
c.1199G>T |
p.G400V |
Missense |
9/15 |
- |
3 |
3-41275034-T-C |
c.1200T>C |
p.G400= |
Synonymous |
9/15 |
- |
1 |
3-41275035-C-G |
c.1201C>G |
p.L401V |
Missense |
9/15 |
- |
1 |
3-41275035-C-T |
c.1201C>T |
p.L401F |
Missense |
9/15 |
- |
1 |
3-41275036-T-A |
c.1202T>A |
p.L401H |
Missense |
9/15 |
- |
1 |
3-41275037-C-A |
c.1203C>A |
p.L401= |
Synonymous |
9/15 |
- |
1 |
3-41275037-C-G |
c.1203C>G |
p.L401= |
Synonymous |
9/15 |
- |
1 |
3-41275037-C-T |
c.1203C>T |
p.L401= |
Synonymous |
9/15 |
- |
4 |
3-41275038-C-T |
c.1204C>T |
p.L402F |
Missense |
9/15 |
- |
7 |
3-41275038-CT-GC |
c.1204_1205delinsGC |
p.L402A |
Missense |
9/15 |
- |
1 |
3-41275038-CT-C |
c.1206del |
p.T404Lfs*11 |
Frameshift |
9/15 |
- |
1 |
3-41275040-T-A |
c.1206T>A |
p.L402= |
Synonymous |
9/15 |
- |
1 |
3-41275040-T-C |
c.1206T>C |
p.L402= |
Synonymous |
9/15 |
- |
1 |
3-41275040-T-G |
c.1206T>G |
p.L402= |
Synonymous |
9/15 |
- |
1 |
3-41275041-G-A |
c.1207G>A |
p.G403R |
Missense |
9/15 |
- |
1 |
3-41275041-G-C |
c.1207G>C |
p.G403R |
Missense |
9/15 |
- |
1 |
3-41275041-GGG-TGT |
c.1207_1209delinsTGT |
p.G403C |
Missense |
9/15 |
- |
1 |
3-41275042-G-A |
c.1208G>A |
p.G403E |
Missense |
9/15 |
- |
2 |
3-41275042-G-C |
c.1208G>C |
p.G403A |
Missense |
9/15 |
- |
1 |
3-41275042-GG-AC |
c.1208_1209delinsAC |
p.G403D |
Missense |
9/15 |
- |
1 |
3-41275042-G-T |
c.1208G>T |
p.G403V |
Missense |
9/15 |
- |
1 |
3-41275044-AC-GT |
c.1210_1211inv |
p.T404V |
Missense |
9/15 |
- |
1 |
3-41275044-A-G |
c.1210A>G |
p.T404A |
Missense |
9/15 |
- |
2 |
3-41275045-C-G |
c.1211C>G |
p.T404S |
Missense |
9/15 |
- |
1 |
3-41275045-C-T |
c.1211C>T |
p.T404I |
Missense |
9/15 |
- |
2 |
3-41275046-T-A |
c.1212T>A |
p.T404= |
Synonymous |
9/15 |
- |
1 |
3-41275046-T-C |
c.1212T>C |
p.T404= |
Synonymous |
9/15 |
- |
1 |
3-41275046-T-G |
c.1212T>G |
p.T404= |
Synonymous |
9/15 |
- |
1 |
3-41275044-ACT-A |
c.1213_1214del |
p.L405Cfs*8 |
Frameshift |
9/15 |
- |
3 |
3-41275047-C-T |
c.1213C>T |
p.L405F |
Missense |
9/15 |
- |
9 |
3-41275048-T-C |
c.1214T>C |
p.L405P |
Missense |
9/15 |
- |
2 |
3-41275049-T-A |
c.1215T>A |
p.L405= |
Synonymous |
9/15 |
- |
1 |
3-41275050-G-A |
c.1216G>A |
p.V406I |
Missense |
9/15 |
- |
3 |
3-41275052-T-G |
c.1218T>G |
p.V406= |
Synonymous |
9/15 |
- |
1 |
3-41275053-C-T |
c.1219C>T |
p.Q407* |
Nonsense |
9/15 |
- |
4 |
3-41275054-A-G |
c.1220A>G |
p.Q407R |
Missense |
9/15 |
- |
1 |
3-41275055-G-A |
c.1221G>A |
p.Q407= |
Synonymous |
9/15 |
- |
1 |
3-41275056-C-G |
c.1222C>G |
p.L408V |
Missense |
9/15 |
- |
1 |
3-41275056-C-T |
c.1222C>T |
p.L408F |
Missense |
9/15 |
- |
2 |
3-41275057-T-C |
c.1223T>C |
p.L408P |
Missense |
9/15 |
- |
1 |
3-41275059-CTG-ATC |
c.1225_1227delinsATC |
p.L409I |
Missense |
9/15 |
- |
1 |
3-41275062-G-A |
c.1228G>A |
p.G410S |
Missense |
9/15 |
- |
1 |
3-41275062-G-T |
c.1228G>T |
p.G410C |
Missense |
9/15 |
- |
2 |
3-41275060-T-TG |
c.1229dup |
p.S411Ffs*3 |
Frameshift |
9/15 |
- |
1 |
3-41275063-G-A |
c.1229G>A |
p.G410D |
Missense |
9/15 |
- |
2 |
3-41275066-C-T |
c.1232C>T |
p.S411L |
Missense |
9/15 |
- |
1 |
3-41275068-G-C |
c.1234G>C |
p.D412H |
Missense |
9/15 |
- |
4 |
3-41275069-A-C |
c.1235A>C |
p.D412A |
Missense |
9/15 |
- |
1 |
3-41275069-A-G |
c.1235A>G |
p.D412G |
Missense |
9/15 |
- |
2 |
3-41275069-A-T |
c.1235A>T |
p.D412V |
Missense |
9/15 |
- |
1 |
3-41275071-G-A |
c.1237G>A |
p.D413N |
Missense |
9/15 |
- |
2 |
3-41275074-A-G |
c.1240A>G |
p.I414V |
Missense |
9/15 |
- |
1 |
3-41275074-AT-GG |
c.1240_1241delinsGG |
p.I414G |
Missense |
9/15 |
- |
1 |
3-41275077-A-C |
c.1243A>C |
p.N415H |
Missense |
9/15 |
- |
3 |
3-41275078-AATG-A |
c.1244_1246del |
p.N415_V416delinsM |
MultiAAMissense |
9/15 |
- |
1 |
3-41275080-G-A |
c.1246G>A |
p.V416M |
Missense |
9/15 |
- |
1 |
3-41275081-GTGGT-G |
c.1247_1250del |
p.V416Afs*20 |
Frameshift |
9/15 |
- |
1 |
3-41275081-T-TG |
c.1249dup |
p.V417Gfs*10 |
Frameshift |
9/15 |
- |
2 |
3-41275083-G-A |
c.1249G>A |
p.V417I |
Missense |
9/15 |
- |
1 |
3-41275084-T-A |
c.1250T>A |
p.V417D |
Missense |
9/15 |
- |
1 |
3-41275085-C-A |
c.1251C>A |
p.V417= |
Synonymous |
9/15 |
- |
1 |
3-41275085-C-G |
c.1251C>G |
p.V417= |
Synonymous |
9/15 |
- |
2 |
3-41275085-C-T |
c.1251C>T |
p.V417= |
Synonymous |
9/15 |
- |
1 |
3-41275085-TCACC-T |
c.1251_1254del |
p.T418Vfs*18 |
Frameshift |
9/15 |
- |
1 |
3-41275086-A-G |
c.1252A>G |
p.T418A |
Missense |
9/15 |
- |
1 |
3-41275087-C-T |
c.1253C>T |
p.T418I |
Missense |
9/15 |
- |
1 |
3-41275088-C-A |
c.1254C>A |
p.T418= |
Synonymous |
9/15 |
- |
4 |
3-41275088-C-G |
c.1254C>G |
p.T418= |
Synonymous |
9/15 |
- |
3 |
3-41275088-C-T |
c.1254C>T |
p.T418= |
Synonymous |
9/15 |
- |
3 |
3-41275087-CCTGTG-C |
c.1255_1259del |
p.C419Sfs*6 |
Frameshift |
9/15 |
- |
1 |
3-41275089-CT-C |
c.1255del |
p.C419Vfs*18 |
Frameshift |
9/15 |
- |
1 |
3-41275089-T-C |
c.1255T>C |
p.C419R |
Missense |
9/15 |
- |
3 |
3-41275089-TG-GC |
c.1255_1256delinsGC |
p.C419A |
Missense |
9/15 |
- |
1 |
3-41275090-G-A |
c.1256G>A |
p.C419Y |
Missense |
9/15 |
- |
1 |
3-41275087-CCTGTGCAG-C |
c.1257_1264del |
p.C419Wfs*5 |
Frameshift |
9/15 |
- |
1 |
3-41275091-T-A |
c.1257T>A |
p.C419* |
Nonsense |
9/15 |
- |
1 |
3-41275093-C-T |
c.1259C>T |
p.A420V |
Missense |
9/15 |
- |
2 |
3-41275096-C-G |
c.1262C>G |
p.A421G |
Missense |
9/15 |
- |
1 |
3-41275096-C-T |
c.1262C>T |
p.A421V |
Missense |
9/15 |
- |
5 |
3-41275098-GGA-AGC |
c.1264_1266delinsAGC |
p.G422S |
Missense |
9/15 |
- |
1 |
3-41275098-G-T |
c.1264G>T |
p.G422* |
Nonsense |
9/15 |
- |
1 |
3-41275099-G-A |
c.1265G>A |
p.G422E |
Missense |
9/15 |
- |
2 |
3-41275099-GA-AC |
c.1265_1266delinsAC |
p.G422D |
Missense |
9/15 |
- |
1 |
3-41275099-G-C |
c.1265G>C |
p.G422A |
Missense |
9/15 |
- |
1 |
3-41275099-G-T |
c.1265G>T |
p.G422V |
Missense |
9/15 |
- |
1 |
3-41275101-A-T |
c.1267A>T |
p.I423F |
Missense |
9/15 |
- |
1 |
3-41275103-T-C |
c.1269T>C |
p.I423= |
Synonymous |
9/15 |
- |
1 |
3-41275103-T-G |
c.1269T>G |
p.I423M |
Missense |
9/15 |
- |
1 |
3-41275103-T-TTACCTGTTTAGTTG |
c.1269_1270insTACCTGTTTAGTTG |
p.L424Yfs*18 |
Frameshift |
9/15 |
- |
1 |
3-41275104-C-G |
c.1270C>G |
p.L424V |
Missense |
9/15 |
- |
1 |
3-41275104-C-T |
c.1270C>T |
p.L424F |
Missense |
9/15 |
- |
1 |
3-41275105-T-G |
c.1271T>G |
p.L424R |
Missense |
9/15 |
- |
3 |
3-41275101-ATTCT-A |
c.1272_1275del |
p.S425Tfs*11 |
Frameshift |
9/15 |
- |
8 |
3-41275106-T-C |
c.1272T>C |
p.L424= |
Synonymous |
9/15 |
- |
1 |
3-41275104-C-CT |
c.1273dup |
p.S425Ffs*2 |
Frameshift |
9/15 |
- |
1 |
3-41275107-T-A |
c.1273T>A |
p.S425T |
Missense |
9/15 |
- |
2 |
3-41275107-T-G |
c.1273T>G |
p.S425A |
Missense |
9/15 |
- |
1 |
3-41275108-C-G |
c.1274C>G |
p.S425C |
Missense |
9/15 |
- |
3 |
3-41275108-C-T |
c.1274C>T |
p.S425F |
Missense |
9/15 |
- |
1 |
3-41275108-TCTA-T |
c.1274_1276del |
p.S425_N426delinsY |
MultiAAMissense |
9/15 |
- |
1 |
3-41275110-AA-GC |
c.1276_1277delinsGC |
p.N426A |
Missense |
9/15 |
- |
1 |
3-41275110-A-G |
c.1276A>G |
p.N426D |
Missense |
9/15 |
- |
9 |
3-41275110-TAAC-T |
c.1276_1278del |
p.N426del |
InFrameDeletion |
9/15 |
- |
1 |
3-41275109-TA-T |
c.1277del |
p.N426Tfs*11 |
Frameshift |
9/15 |
- |
1 |
3-41275112-C-T |
c.1278C>T |
p.N426= |
Synonymous |
9/15 |
- |
1 |
3-41275113-C-T |
c.1279C>T |
p.L427F |
Missense |
9/15 |
- |
2 |
3-41275114-T-C |
c.1280T>C |
p.L427P |
Missense |
9/15 |
- |
1 |
3-41275116-A-G |
c.1282A>G |
p.T428A |
Missense |
9/15 |
- |
1 |
3-41275116-A-T |
c.1282A>T |
p.T428S |
Missense |
9/15 |
- |
1 |
3-41275119-T-A |
c.1285T>A |
p.C429S |
Missense |
9/15 |
- |
2 |
3-41275119-T-G |
c.1285T>G |
p.C429G |
Missense |
9/15 |
- |
11 |
3-41275120-G-C |
c.1286G>C |
p.C429S |
Missense |
9/15 |
- |
2 |
3-41275120-G-A |
c.1286G>A |
p.C429Y |
Missense |
9/15 |
- |
4 |
3-41275121-C-A |
c.1287C>A |
p.C429* |
Nonsense |
9/15 |
- |
1 |
3-41275124-T-C |
c.1290T>C |
p.N430= |
Synonymous |
9/15 |
- |
1 |
3-41275128-TATA-T |
c.1296_1298del |
p.Y432_K433delins* |
MultiAAMissense |
9/15 |
- |
1 |
3-41275130-T-A |
c.1296T>A |
p.Y432* |
Nonsense |
9/15 |
- |
1 |
3-41275130-T-G |
c.1296T>G |
p.Y432* |
Nonsense |
9/15 |
- |
1 |
3-41275131-A-G |
c.1297A>G |
p.K433E |
Missense |
9/15 |
- |
1 |
3-41275131-A-T |
c.1297A>T |
p.K433* |
Nonsense |
9/15 |
- |
1 |
3-41275132-A-G |
c.1298A>G |
p.K433R |
Missense |
9/15 |
- |
1 |
3-41275133-G-A |
c.1299G>A |
p.K433= |
Synonymous |
9/15 |
- |
1 |
3-41275134-A-G |
c.1300A>G |
p.N434D |
Missense |
9/15 |
- |
1 |
3-41275135-A-G |
c.1301A>G |
p.N434S |
Missense |
9/15 |
- |
1 |
3-41275136-C-A |
c.1302C>A |
p.N434K |
Missense |
9/15 |
- |
2 |
3-41275136-C-G |
c.1302C>G |
p.N434K |
Missense |
9/15 |
- |
1 |
3-41275137-AA-GC |
c.1303_1304delinsGC |
p.K435A |
Missense |
9/15 |
- |
2 |
3-41275137-A-G |
c.1303A>G |
p.K435E |
Missense |
9/15 |
- |
4 |
3-41275137-A-T |
c.1303A>T |
p.K435* |
Nonsense |
9/15 |
- |
3 |
3-41275139-G-C |
c.1305G>C |
p.K435N |
Missense |
9/15 |
- |
2 |
3-41275139-G-T |
c.1305G>T |
p.K435N |
Missense |
9/15 |
- |
1 |
3-41275141-T-A |
c.1307T>A |
p.M436K |
Missense |
9/15 |
- |
1 |
3-41275142-G-A |
c.1308G>A |
p.M436I |
Missense |
9/15 |
- |
1 |
3-41275145-G-A |
c.1311G>A |
p.M437I |
Missense |
9/15 |
- |
1 |
3-41275146-G-A |
c.1312G>A |
p.V438I |
Missense |
9/15 |
- |
1 |
3-41275146-G-C |
c.1312G>C |
p.V438L |
Missense |
9/15 |
- |
1 |
3-41275146-G-T |
c.1312G>T |
p.V438F |
Missense |
9/15 |
- |
1 |
3-41275147-T-C |
c.1313T>C |
p.V438A |
Missense |
9/15 |
- |
1 |
3-41275147-T-G |
c.1313T>G |
p.V438G |
Missense |
9/15 |
- |
1 |
3-41275149-T-A |
c.1315T>A |
p.C439S |
Missense |
9/15 |
- |
1 |
3-41275149-TG-GC |
c.1315_1316delinsGC |
p.C439A |
Missense |
9/15 |
- |
1 |
3-41275150-G-C |
c.1316G>C |
p.C439S |
Missense |
9/15 |
- |
1 |
3-41275149-T-TG |
c.1316dup |
p.C439Wfs*18 |
Frameshift |
9/15 |
- |
1 |
3-41275150-G-A |
c.1316G>A |
p.C439Y |
Missense |
9/15 |
- |
4 |
3-41275151-C-A |
c.1317C>A |
p.C439* |
Nonsense |
9/15 |
- |
1 |
3-41275151-C-T |
c.1317C>T |
p.C439= |
Synonymous |
9/15 |
- |
4 |
3-41275152-C-T |
c.1318C>T |
p.Q440* |
Nonsense |
9/15 |
- |
2 |
3-41275153-A-C |
c.1319A>C |
p.Q440P |
Missense |
9/15 |
- |
1 |
3-41275154-A-T |
c.1320A>T |
p.Q440H |
Missense |
9/15 |
- |
1 |
3-41275158-G-A |
c.1324G>A |
p.G442S |
Missense |
9/15 |
- |
2 |
3-41275159-G-A |
c.1325G>A |
p.G442D |
Missense |
9/15 |
- |
1 |
3-41275160-T-A |
c.1326T>A |
p.G442= |
Synonymous |
9/15 |
- |
1 |
3-41275160-T-C |
c.1326T>C |
p.G442= |
Synonymous |
9/15 |
- |
1 |
3-41275160-T-G |
c.1326T>G |
p.G442= |
Synonymous |
9/15 |
- |
1 |
3-41275161-G-A |
c.1327G>A |
p.G443S |
Missense |
9/15 |
- |
1 |
3-41275161-G-T |
c.1327G>T |
p.G443C |
Missense |
9/15 |
- |
1 |
3-41275162-G-A |
c.1328G>A |
p.G443D |
Missense |
9/15 |
- |
2 |
3-41275162-G-T |
c.1328G>T |
p.G443V |
Missense |
9/15 |
- |
1 |
3-41275167-AG-A |
c.1333del |
p.E445Rfs*27 |
Frameshift |
9/15 |
- |
1 |
3-41275167-G-A |
c.1333G>A |
p.E445K |
Missense |
9/15 |
- |
1 |
3-41275167-G-T |
c.1333G>T |
p.E445* |
Nonsense |
9/15 |
- |
1 |
3-41275170-G-A |
c.1336G>A |
p.A446T |
Missense |
9/15 |
- |
1 |
3-41275171-C-T |
c.1337C>T |
p.A446V |
Missense |
9/15 |
- |
2 |
3-41275172-T-A |
c.1338T>A |
p.A446= |
Synonymous |
9/15 |
- |
1 |
3-41275172-T-C |
c.1338T>C |
p.A446= |
Synonymous |
9/15 |
- |
1 |
3-41275172-T-G |
c.1338T>G |
p.A446= |
Synonymous |
9/15 |
- |
1 |
3-41275173-C-T |
c.1339C>T |
p.L447F |
Missense |
9/15 |
- |
2 |
3-41275177-T-TGG |
c.1344_1345insGG |
p.R449Gfs*24 |
Frameshift |
9/15 |
- |
1 |
3-41275178-G-A |
c.1344G>A |
p.V448= |
Synonymous |
9/15 |
- |
3 |
3-41275178-G-C |
c.1344G>C |
p.V448= |
Synonymous |
9/15 |
- |
2 |
3-41275178-G-T |
c.1344G>T |
p.V448= |
Synonymous |
9/15 |
- |
2 |
3-41275179-C-A |
c.1345C>A |
p.R449S |
Missense |
9/15 |
- |
1 |
3-41275179-CGT-GAG |
c.1345_1347delinsGAG |
p.R449E |
Missense |
9/15 |
- |
1 |
3-41275179-CGT-TGA |
c.1345_1347delinsTGA |
p.R449* |
Nonsense |
9/15 |
- |
1 |
3-41275179-C-T |
c.1345C>T |
p.R449C |
Missense |
9/15 |
- |
3 |
3-41275179-GCGT-G |
c.1345_1347del |
p.R449del |
InFrameDeletion |
9/15 |
- |
1 |
3-41275180-G-A |
c.1346G>A |
p.R449H |
Missense |
9/15 |
- |
15 |
3-41275180-G-T |
c.1346G>T |
p.R449L |
Missense |
9/15 |
- |
1 |
3-41275180-GTAC-G |
c.1348_1350del |
p.T450del |
InFrameDeletion |
9/15 |
- |
1 |
3-41275182-A-G |
c.1348A>G |
p.T450A |
Missense |
9/15 |
- |
2 |
3-41275182-TAC-T |
c.1348_1349del |
p.T450Cfs*6 |
Frameshift |
9/15 |
- |
1 |
3-41275182-A-T |
c.1348A>T |
p.T450S |
Missense |
9/15 |
- |
2 |
3-41275183-C-G |
c.1349C>G |
p.T450S |
Missense |
9/15 |
- |
1 |
3-41275183-C-T |
c.1349C>T |
p.T450I |
Missense |
9/15 |
- |
1 |
3-41275184-T-A |
c.1350T>A |
p.T450= |
Synonymous |
9/15 |
- |
1 |
3-41275184-T-C |
c.1350T>C |
p.T450= |
Synonymous |
9/15 |
- |
2 |
3-41275184-T-G |
c.1350T>G |
p.T450= |
Synonymous |
9/15 |
- |
1 |
3-41275185-G-A |
c.1351G>A |
p.V451I |
Missense |
9/15 |
- |
3 |
3-41275185-GTC-ATG |
c.1351_1353delinsATG |
p.V451M |
Missense |
9/15 |
- |
1 |
3-41275186-TC-T |
c.1354del |
p.L452Ffs*20 |
Frameshift |
9/15 |
- |
4 |
3-41275186-T-TC |
c.1354dup |
p.L452Pfs*5 |
Frameshift |
9/15 |
- |
1 |
3-41275188-C-A |
c.1354C>A |
p.L452I |
Missense |
9/15 |
- |
1 |
3-41275188-C-T |
c.1354C>T |
p.L452F |
Missense |
9/15 |
- |
1 |
3-41275189-T-C |
c.1355T>C |
p.L452P |
Missense |
9/15 |
- |
1 |
3-41275189-T-G |
c.1355T>G |
p.L452R |
Missense |
9/15 |
- |
1 |
3-41275191-CGG-TGT |
c.1357_1359delinsTGT |
p.R453C |
Missense |
9/15 |
- |
1 |
3-41275191-C-T |
c.1357C>T |
p.R453W |
Missense |
9/15 |
- |
3 |
3-41275192-G-A |
c.1358G>A |
p.R453Q |
Missense |
9/15 |
- |
9 |
3-41275192-G-T |
c.1358G>T |
p.R453L |
Missense |
9/15 |
- |
1 |
3-41275194-G-A |
c.1360G>A |
p.A454T |
Missense |
9/15 |
- |
2 |
3-41275195-C-G |
c.1361C>G |
p.A454G |
Missense |
9/15 |
- |
1 |
3-41275195-C-T |
c.1361C>T |
p.A454V |
Missense |
9/15 |
- |
2 |
3-41275197-G-A |
c.1363G>A |
p.G455S |
Missense |
9/15 |
- |
1 |
3-41275197-G-C |
c.1363G>C |
p.G455R |
Missense |
9/15 |
- |
1 |
3-41275197-GGTGACAGGGAAGACA-TTT |
c.1363_1378delinsTTT |
p.G455Ffs*13 |
Frameshift |
9/15 |
- |
1 |
3-41275197-GGTGACAGGGAAGACA-TTTCTC |
c.1363_1378delinsTTTCTC |
p.G455Ffs*14 |
Frameshift |
9/15 |
- |
1 |
3-41275199-T-A |
c.1365T>A |
p.G455= |
Synonymous |
9/15 |
- |
1 |
3-41275199-T-C |
c.1365T>C |
p.G455= |
Synonymous |
9/15 |
- |
1 |
3-41275199-T-G |
c.1365T>G |
p.G455= |
Synonymous |
9/15 |
- |
1 |
3-41275200-G-C |
c.1366G>C |
p.D456H |
Missense |
9/15 |
- |
1 |
3-41275202-C-CT |
c.1368_1369insT |
p.R457* |
Nonsense |
9/15 |
- |
1 |
3-41275203-AGG-TGT |
c.1369_1371delinsTGT |
p.R457C |
Missense |
9/15 |
- |
1 |
3-41275203-AG-TA |
c.1369_1370delinsTA |
p.R457* |
Nonsense |
9/15 |
- |
1 |
3-41275203-A-T |
c.1369A>T |
p.R457W |
Missense |
9/15 |
- |
1 |
3-41275203-CAG-C |
c.1369_1370del |
p.R457Gfs*5 |
Frameshift |
9/15 |
- |
3 |
3-41275204-G-A |
c.1370G>A |
p.R457K |
Missense |
9/15 |
- |
3 |
3-41275204-G-T |
c.1370G>T |
p.R457M |
Missense |
9/15 |
- |
1 |
3-41275206-G-A |
c.1372G>A |
p.E458K |
Missense |
9/15 |
- |
2 |
3-41275206-G-C |
c.1372G>C |
p.E458Q |
Missense |
9/15 |
- |
3 |
3-41275207-A-G |
c.1373A>G |
p.E458G |
Missense |
9/15 |
- |
1 |
3-41275209-GAC-G |
c.1377_1378del |
p.I460Hfs*2 |
Frameshift |
9/15 |
- |
1 |
3-41275211-C-T |
c.1377C>T |
p.D459= |
Synonymous |
9/15 |
- |
1 |
3-41275213-T-C |
c.1379T>C |
p.I460T |
Missense |
9/15 |
- |
6 |
3-41275215-A-C |
c.1381A>C |
p.T461P |
Missense |
9/15 |
- |
1 |
3-41275215-A-G |
c.1381A>G |
p.T461A |
Missense |
9/15 |
- |
1 |
3-41275220-GC-G |
c.1388del |
p.P463Lfs*9 |
Frameshift |
9/15 |
- |
1 |
3-41275222-C-T |
c.1388C>T |
p.P463L |
Missense |
9/15 |
- |
1 |
3-41275225-C-T |
c.1391C>T |
p.A464V |
Missense |
9/15 |
- |
4 |
3-41275226-C-A |
c.1392C>A |
p.A464= |
Synonymous |
9/15 |
- |
1 |
3-41275226-C-G |
c.1392C>G |
p.A464= |
Synonymous |
9/15 |
- |
1 |
3-41275226-C-T |
c.1392C>T |
p.A464= |
Synonymous |
9/15 |
- |
1 |
3-41275227-A-G |
c.1393A>G |
p.I465V |
Missense |
9/15 |
- |
4 |
3-41275228-T-A |
c.1394T>A |
p.I465N |
Missense |
9/15 |
- |
1 |
3-41275229-C-G |
c.1395C>G |
p.I465M |
Missense |
9/15 |
- |
3 |
3-41275230-T-A |
c.1396T>A |
p.C466S |
Missense |
9/15 |
- |
1 |
3-41275230-TG-GC |
c.1396_1397delinsGC |
p.C466A |
Missense |
9/15 |
- |
1 |
3-41275231-G-C |
c.1397G>C |
p.C466S |
Missense |
9/15 |
- |
1 |
3-41275231-G-A |
c.1397G>A |
p.C466Y |
Missense |
9/15 |
- |
1 |
3-41275231-G-T |
c.1397G>T |
p.C466F |
Missense |
9/15 |
- |
1 |
3-41275229-CTG-C |
c.1398_1399del |
p.A467Sfs*29 |
Frameshift |
9/15 |
- |
1 |
3-41275232-T-G |
c.1398T>G |
p.C466W |
Missense |
9/15 |
- |
1 |
3-41275233-G-A |
c.1399G>A |
p.A467T |
Missense |
9/15 |
- |
6 |
3-41275233-G-T |
c.1399G>T |
p.A467S |
Missense |
9/15 |
- |
1 |
3-41275234-C-G |
c.1400C>G |
p.A467G |
Missense |
9/15 |
- |
1 |
3-41275234-C-T |
c.1400C>T |
p.A467V |
Missense |
9/15 |
- |
1 |
3-41275236-C-G |
c.1402C>G |
p.L468V |
Missense |
9/15 |
- |
2 |
3-41275236-CTT-ATG |
c.1402_1404delinsATG |
p.L468M |
Missense |
9/15 |
- |
1 |
3-41275239-CGT-TGG |
c.1405_1407delinsTGG |
p.R469W |
Missense |
9/15 |
- |
1 |
3-41275239-C-T |
c.1405C>T |
p.R469C |
Missense |
9/15 |
- |
5 |
3-41275240-G-A |
c.1406G>A |
p.R469H |
Missense |
9/15 |
- |
7 |
3-41275242-C-A |
c.1408C>A |
p.H470N |
Missense |
9/15 |
- |
1 |
3-41275242-CA-GC |
c.1408_1409delinsGC |
p.H470A |
Missense |
9/15 |
- |
1 |
3-41275242-C-T |
c.1408C>T |
p.H470Y |
Missense |
9/15 |
- |
1 |
3-41275243-A-G |
c.1409A>G |
p.H470R |
Missense |
9/15 |
- |
4 |
3-41275246-T-A |
c.1412T>A |
p.L471Q |
Missense |
9/15 |
- |
3 |
3-41275245-C-T |
c.1411C>T |
p.L471= |
Synonymous |
9/15 |
- |
1 |
3-41275247-G-A |
c.1413G>A |
p.L471= |
Synonymous |
9/15 |
- |
1 |
3-41275247-G-C |
c.1413G>C |
p.L471= |
Synonymous |
9/15 |
- |
1 |
3-41275247-G-T |
c.1413G>T |
p.L471= |
Synonymous |
9/15 |
- |
1 |
3-41275248-A-T |
c.1414A>T |
p.T472S |
Missense |
9/15 |
- |
1 |
3-41275249-C-G |
c.1415C>G |
p.T472S |
Missense |
9/15 |
- |
1 |
3-41275251-AG-GC |
c.1417_1418delinsGC |
p.S473A |
Missense |
9/15 |
- |
3 |
3-41275252-G-A |
c.1418G>A |
p.S473N |
Missense |
9/15 |
- |
2 |
3-41275254-CG-AA |
c.1420_1421delinsAA |
p.R474K |
Missense |
9/15 |
- |
1 |
3-41275254-CGA-ATG |
c.1420_1422delinsATG |
p.R474M |
Missense |
9/15 |
- |
1 |
3-41275254-CG-GC |
c.1420_1421delinsGC |
p.R474A |
Missense |
9/15 |
- |
3 |
3-41275254-C-T |
c.1420C>T |
p.R474* |
Nonsense |
9/15 |
- |
21 |
3-41275255-G-A |
c.1421G>A |
p.R474Q |
Missense |
9/15 |
- |
9 |
3-41275259-C-A |
c.1425C>A |
p.H475Q |
Missense |
9/15 |
- |
2 |
3-41275259-C-G |
c.1425C>G |
p.H475Q |
Missense |
9/15 |
- |
1 |
3-41275260-C-G |
c.1426C>G |
p.Q476E |
Missense |
9/15 |
- |
1 |
3-41275260-C-T |
c.1426C>T |
p.Q476* |
Nonsense |
9/15 |
- |
1 |
3-41275262-A-C |
c.1428A>C |
p.Q476H |
Missense |
9/15 |
- |
1 |
3-41275262-A-T |
c.1428A>T |
p.Q476H |
Missense |
9/15 |
- |
1 |
3-41275263-G-A |
c.1429G>A |
p.E477K |
Missense |
9/15 |
- |
2 |
3-41275263-G-T |
c.1429G>T |
p.E477* |
Nonsense |
9/15 |
- |
1 |
3-41275264-A-G |
c.1430A>G |
p.E477G |
Missense |
9/15 |
- |
1 |
3-41275264-A-T |
c.1430A>T |
p.E477V |
Missense |
9/15 |
- |
1 |
3-41275266-G-T |
c.1432G>T |
p.A478S |
Missense |
9/15 |
- |
1 |
3-41275267-C-T |
c.1433C>T |
p.A478V |
Missense |
9/15 |
- |
4 |
3-41275267-C-CA |
c.1434dup |
p.E479Rfs*18 |
Frameshift |
9/15 |
- |
1 |
3-41275268-A-AC |
c.1434_1435insC |
p.E479Rfs*18 |
Frameshift |
9/15 |
- |
3 |
3-41275269-G-A |
c.1435G>A |
p.E479K |
Missense |
9/15 |
- |
3 |
3-41275269-G-C |
c.1435G>C |
p.E479Q |
Missense |
9/15 |
- |
1 |
3-41275270-A-G |
c.1436A>G |
p.E479G |
Missense |
9/15 |
- |
1 |
3-41275271-G-A |
c.1437G>A |
p.E479= |
Synonymous |
9/15 |
- |
1 |
3-41275271-G-C |
c.1437G>C |
p.E479D |
Missense |
9/15 |
- |
1 |
3-41275271-G-T |
c.1437G>T |
p.E479D |
Missense |
9/15 |
- |
1 |
3-41275272-A-G |
c.1438A>G |
p.M480V |
Missense |
9/15 |
- |
1 |
3-41275276-C-A |
c.1442C>A |
p.A481D |
Missense |
9/15 |
- |
1 |
3-41275276-C-T |
c.1442C>T |
p.A481V |
Missense |
9/15 |
- |
1 |
3-41275278-C-A |
c.1444C>A |
p.Q482K |
Missense |
9/15 |
- |
2 |
3-41275278-C-G |
c.1444C>G |
p.Q482E |
Missense |
9/15 |
- |
1 |
3-41275278-C-T |
c.1444C>T |
p.Q482* |
Nonsense |
9/15 |
- |
1 |
3-41275280-G-A |
c.1446G>A |
p.Q482= |
Synonymous |
9/15 |
- |
1 |
3-41275280-G-C |
c.1446G>C |
p.Q482H |
Missense |
9/15 |
- |
1 |
3-41275280-G-T |
c.1446G>T |
p.Q482H |
Missense |
9/15 |
- |
1 |
3-41275284-G-A |
c.1450G>A |
p.A484T |
Missense |
9/15 |
- |
1 |
3-41275285-C-T |
c.1451C>T |
p.A484V |
Missense |
9/15 |
- |
1 |
3-41275286-A-C |
c.1452A>C |
p.A484= |
Synonymous |
9/15 |
- |
1 |
3-41275287-G-C |
c.1453G>C |
p.V485L |
Missense |
9/15 |
- |
1 |
3-41275288-T-G |
c.1454T>G |
p.V485G |
Missense |
9/15 |
- |
1 |
3-41275290-C-G |
c.1456C>G |
p.R486G |
Missense |
9/15 |
- |
1 |
3-41275290-C-T |
c.1456C>T |
p.R486C |
Missense |
9/15 |
- |
11 |
3-41275291-G-A |
c.1457G>A |
p.R486H |
Missense |
9/15 |
- |
10 |
3-41275291-G-T |
c.1457G>T |
p.R486L |
Missense |
9/15 |
- |
1 |
3-41275293-C-T |
c.1459C>T |
p.L487F |
Missense |
9/15 |
- |
1 |
3-41275295-T-A |
c.1461T>A |
p.L487= |
Synonymous |
9/15 |
- |
1 |
3-41275295-T-C |
c.1461T>C |
p.L487= |
Synonymous |
9/15 |
- |
1 |
3-41275295-T-G |
c.1461T>G |
p.L487= |
Synonymous |
9/15 |
- |
1 |
3-41275296-TC-T |
c.1462del |
p.H488Tfs*19 |
Frameshift |
9/15 |
- |
1 |
3-41275298-C-G |
c.1464C>G |
p.H488Q |
Missense |
9/15 |
- |
1 |
3-41275299-T-C |
c.1465T>C |
p.Y489H |
Missense |
9/15 |
- |
1 |
3-41275300-A-G |
c.1466A>G |
p.Y489C |
Missense |
9/15 |
- |
2 |
3-41275301-T-C |
c.1467T>C |
p.Y489= |
Synonymous |
9/15 |
- |
1 |
3-41275305-C-T |
c.1471C>T |
p.L491= |
Synonymous |
9/15 |
- |
1 |
3-41275305-CTA-TTT |
c.1471_1473delinsTTT |
p.L491F |
Missense |
9/15 |
- |
1 |
3-41275306-T-A |
c.1472T>A |
p.L491Q |
Missense |
9/15 |
- |
1 |
3-41275308-C-T |
c.1474C>T |
p.P492S |
Missense |
9/15 |
- |
1 |
3-41275310-A-T |
c.1476A>T |
p.P492= |
Synonymous |
9/15 |
- |
1 |
3-41275311-GTT-ATG |
c.1477_1479delinsATG |
p.V493M |
Missense |
9/15 |
- |
1 |
3-41275315-T-A |
c.1481T>A |
p.V494E |
Missense |
9/15 |
- |
1 |
3-41275315-T-C |
c.1481T>C |
p.V494A |
Missense |
9/15 |
- |
1 |
3-41275316-G-A |
c.1482G>A |
p.V494= |
Synonymous |
9/15 |
- |
1 |
3-41275316-G-C |
c.1482G>C |
p.V494= |
Synonymous |
9/15 |
- |
1 |
3-41275316-G-T |
c.1482G>T |
p.V494= |
Synonymous |
9/15 |
- |
1 |
3-41275318-T-G |
c.1484T>G |
p.V495G |
Missense |
9/15 |
- |
1 |
3-41275320-A-T |
c.1486A>T |
p.K496* |
Nonsense |
9/15 |
- |
1 |
3-41275321-A-C |
c.1487A>C |
p.K496T |
Missense |
9/15 |
- |
1 |
3-41275320-AAGCTCTT-A |
c.1488_1494del |
p.K496Nfs*9 |
Frameshift |
9/15 |
- |
1 |
3-41275322-G-C |
c.1488G>C |
p.K496N |
Missense |
9/15 |
- |
1 |
3-41275326-T-G |
c.1492T>G |
p.L498V |
Missense |
9/15 |
- |
1 |
3-41275327-T-TA |
c.1494dup |
p.H499Tfs*31 |
Frameshift |
9/15 |
- |
3 |
3-41275328-A-C |
c.1494A>C |
p.L498F |
Missense |
9/15 |
- |
1 |
3-41275328-A-T |
c.1494A>T |
p.L498F |
Missense |
9/15 |
- |
1 |
3-41275329-C-A |
c.1495C>A |
p.H499N |
Missense |
9/15 |
- |
1 |
3-41275329-C-T |
c.1495C>T |
p.H499Y |
Missense |
9/15 |
- |
2 |
3-41275330-A-C |
c.1496A>C |
p.H499P |
Missense |
9/15 |
- |
2 |
3-41275332-C-G |
c.1498C>G |
p.P500A |
Missense |
9/15 |
- |
1 |
3-41275333-C-A |
c.1499C>A |
p.P500Q |
Missense |
9/15 |
- |
1 |
3-41275333-C-T |
c.1499C>T |
p.P500L |
Missense |
9/15 |
- |
1 |
3-41275334-CA-C |
c.1500del |
p.P501Hfs*6 |
Frameshift |
9/15 |
- |
1 |
3-41275335-C-T |
c.1501C>T |
p.P501S |
Missense |
9/15 |
- |
3 |
3-41275338-T-A |
c.1504T>A |
p.S502T |
Missense |
9/15 |
- |
1 |
3-41275338-T-C |
c.1504T>C |
p.S502P |
Missense |
9/15 |
- |
1 |
3-41275338-T-G |
c.1504T>G |
p.S502A |
Missense |
9/15 |
- |
1 |
3-41275339-C-T |
c.1505C>T |
p.S502F |
Missense |
9/15 |
- |
2 |
3-41275340-C-T |
c.1506C>T |
p.S502= |
Synonymous |
9/15 |
- |
1 |
3-41275342-A-G |
c.1508A>G |
p.H503R |
Missense |
9/15 |
- |
1 |
3-41275344-TG-GC |
c.1510_1511delinsGC |
p.W504A |
Missense |
9/15 |
- |
2 |
3-41275345-G-A |
c.1511G>A |
p.W504* |
Nonsense |
9/15 |
- |
7 |
3-41275346-G-A |
c.1512G>A |
p.W504* |
Nonsense |
9/15 |
- |
12 |
3-41275347-C-A |
c.1513C>A |
p.P505T |
Missense |
9/15 |
- |
1 |
3-41275347-C-G |
c.1513C>G |
p.P505A |
Missense |
9/15 |
- |
1 |
3-41275347-C-T |
c.1513C>T |
p.P505S |
Missense |
9/15 |
- |
2 |
3-41275348-C-G |
c.1514C>G |
p.P505R |
Missense |
9/15 |
- |
2 |
3-41275350-C-T |
c.1516C>T |
p.L506= |
Synonymous |
9/15 |
- |
4 |
3-41275351-T-C |
c.1517T>C |
p.L506P |
Missense |
9/15 |
- |
2 |
3-41275352-G-A |
c.1518G>A |
p.L506= |
Synonymous |
9/15 |
- |
1 |
3-41275352-G-C |
c.1518G>C |
p.L506= |
Synonymous |
9/15 |
- |
1 |
3-41275352-G-T |
c.1518G>T |
p.L506= |
Synonymous |
9/15 |
- |
1 |
3-41275353-AT-GC |
c.1519_1520delinsGC |
p.I507A |
Missense |
9/15 |
- |
1 |
3-41275354-T-C |
c.1520T>C |
p.I507T |
Missense |
9/15 |
- |
1 |
3-41275355-A-AT |
c.1521_1522insT |
p.K508* |
Nonsense |
9/15 |
- |
1 |
3-41275355-A-G |
c.1521A>G |
p.I507M |
Missense |
9/15 |
- |
1 |
3-41275356-AA-GC |
c.1522_1523delinsGC |
p.K508A |
Missense |
9/15 |
- |
1 |
3-41275356-A-C |
c.1522A>C |
p.K508Q |
Missense |
9/15 |
- |
1 |
3-41275354-TA-T |
c.1523del |
p.K508Rfs*6 |
Frameshift |
9/15 |
- |
1 |
3-41275357-A-G |
c.1523A>G |
p.K508R |
Missense |
9/15 |
- |
1 |
3-41275358-G-A |
c.1524G>A |
p.K508= |
Synonymous |
9/15 |
- |
1 |
3-41275360-T-A |
c.1524+2T>A |
- |
IntronicSNV |
- |
9/14 |
2 |
3-41275360-T-C |
c.1524+2T>C |
- |
IntronicSNV |
- |
9/14 |
1 |
3-41275361-A-G |
c.1524+3A>G |
- |
IntronicSNV |
- |
9/14 |
1 |
3-41275364-T-C |
c.1524+6T>C |
- |
IntronicSNV |
- |
9/14 |
1 |
3-41275393-G-A |
c.1524+35G>A |
- |
IntronicSNV |
- |
9/14 |
2 |
3-41275421-T-C |
c.1524+63T>C |
- |
IntronicSNV |
- |
9/14 |
1 |
3-41275492-G-A |
c.1524+134G>A |
- |
IntronicSNV |
- |
9/14 |
1 |
3-41275596-G-C |
c.1525-34G>C |
- |
IntronicSNV |
- |
9/14 |
1 |
3-41275630-G-A |
c.1525G>A |
p.A509T |
Missense |
10/15 |
- |
1 |
3-41275630-G-C |
c.1525G>C |
p.A509P |
Missense |
10/15 |
- |
1 |
3-41275631-C-A |
c.1526C>A |
p.A509D |
Missense |
10/15 |
- |
1 |
3-41275631-C-T |
c.1526C>T |
p.A509V |
Missense |
10/15 |
- |
1 |
3-41275633-A-C |
c.1528A>C |
p.T510P |
Missense |
10/15 |
- |
1 |
3-41275634-C-A |
c.1529C>A |
p.T510N |
Missense |
10/15 |
- |
1 |
3-41275634-C-CT |
c.1530dup |
p.V511Cfs*19 |
Frameshift |
10/15 |
- |
2 |
3-41275636-G-A |
c.1531G>A |
p.V511I |
Missense |
10/15 |
- |
1 |
3-41275636-G-T |
c.1531G>T |
p.V511F |
Missense |
10/15 |
- |
1 |
3-41275636-GT-TG |
c.1531_1532delinsTG |
p.V511C |
Missense |
10/15 |
- |
1 |
3-41275636-GTT-TAA |
c.1531_1533delinsTAA |
p.V511* |
Nonsense |
10/15 |
- |
1 |
3-41275637-T-C |
c.1532T>C |
p.V511A |
Missense |
10/15 |
- |
1 |
3-41275638-T-A |
c.1533T>A |
p.V511= |
Synonymous |
10/15 |
- |
1 |
3-41275638-T-C |
c.1533T>C |
p.V511= |
Synonymous |
10/15 |
- |
1 |
3-41275638-T-G |
c.1533T>G |
p.V511= |
Synonymous |
10/15 |
- |
1 |
3-41275639-GGA-AGC |
c.1534_1536delinsAGC |
p.G512S |
Missense |
10/15 |
- |
1 |
3-41275639-G-T |
c.1534G>T |
p.G512* |
Nonsense |
10/15 |
- |
1 |
3-41275640-G-A |
c.1535G>A |
p.G512E |
Missense |
10/15 |
- |
2 |
3-41275640-G-T |
c.1535G>T |
p.G512V |
Missense |
10/15 |
- |
2 |
3-41275641-A-C |
c.1536A>C |
p.G512= |
Synonymous |
10/15 |
- |
1 |
3-41275641-A-G |
c.1536A>G |
p.G512= |
Synonymous |
10/15 |
- |
1 |
3-41275641-A-T |
c.1536A>T |
p.G512= |
Synonymous |
10/15 |
- |
1 |
3-41275642-T-G |
c.1537T>G |
p.L513V |
Missense |
10/15 |
- |
1 |
3-41275642-TTG-ATC |
c.1537_1539delinsATC |
p.L513I |
Missense |
10/15 |
- |
1 |
3-41275641-AT-A |
c.1538del |
p.L513* |
Frameshift |
10/15 |
- |
1 |
3-41275644-G-C |
c.1539G>C |
p.L513F |
Missense |
10/15 |
- |
2 |
3-41275644-G-T |
c.1539G>T |
p.L513F |
Missense |
10/15 |
- |
2 |
3-41275646-T-C |
c.1541T>C |
p.I514T |
Missense |
10/15 |
- |
1 |
3-41275648-CGA-TGG |
c.1543_1545delinsTGG |
p.R515W |
Missense |
10/15 |
- |
1 |
3-41275648-C-T |
c.1543C>T |
p.R515* |
Nonsense |
10/15 |
- |
18 |
3-41275649-G-A |
c.1544G>A |
p.R515Q |
Missense |
10/15 |
- |
14 |
3-41275654-C-A |
c.1549C>A |
p.L517I |
Missense |
10/15 |
- |
1 |
3-41275654-C-T |
c.1549C>T |
p.L517F |
Missense |
10/15 |
- |
8 |
3-41275649-GAAATCTTGCCCTTTGTCCCGC-G |
c.1550_1570del |
p.L517_N523del |
InFrameDeletion |
10/15 |
- |
1 |
3-41275658-C-T |
c.1553C>T |
p.A518V |
Missense |
10/15 |
- |
1 |
3-41275657-GCC-G |
c.1554_1555del |
p.C520Sfs*9 |
Frameshift |
10/15 |
- |
1 |
3-41275659-C-T |
c.1554C>T |
p.A518= |
Synonymous |
10/15 |
- |
1 |
3-41275657-G-GC |
c.1555dup |
p.L519Pfs*11 |
Frameshift |
10/15 |
- |
1 |
3-41275660-C-A |
c.1555C>A |
p.L519I |
Missense |
10/15 |
- |
2 |
3-41275660-C-G |
c.1555C>G |
p.L519V |
Missense |
10/15 |
- |
1 |
3-41275660-C-T |
c.1555C>T |
p.L519F |
Missense |
10/15 |
- |
1 |
3-41275663-T-A |
c.1558T>A |
p.C520S |
Missense |
10/15 |
- |
1 |
3-41275663-T-C |
c.1558T>C |
p.C520R |
Missense |
10/15 |
- |
1 |
3-41275664-G-C |
c.1559G>C |
p.C520S |
Missense |
10/15 |
- |
1 |
3-41275664-G-A |
c.1559G>A |
p.C520Y |
Missense |
10/15 |
- |
1 |
3-41275666-C-T |
c.1561C>T |
p.P521S |
Missense |
10/15 |
- |
3 |
3-41275667-C-T |
c.1562C>T |
p.P521L |
Missense |
10/15 |
- |
1 |
3-41275669-G-A |
c.1564G>A |
p.A522T |
Missense |
10/15 |
- |
12 |
3-41275670-C-G |
c.1565C>G |
p.A522G |
Missense |
10/15 |
- |
1 |
3-41275670-C-CA |
c.1568dup |
p.N523Kfs*7 |
Frameshift |
10/15 |
- |
2 |
3-41275673-A-G |
c.1568A>G |
p.N523S |
Missense |
10/15 |
- |
1 |
3-41275675-C-A |
c.1570C>A |
p.H524N |
Missense |
10/15 |
- |
1 |
3-41275679-C-T |
c.1574C>T |
p.A525V |
Missense |
10/15 |
- |
3 |
3-41275678-GCA-G |
c.1575_1576del |
p.P526Ffs*3 |
Frameshift |
10/15 |
- |
1 |
3-41275680-A-C |
c.1575A>C |
p.A525= |
Synonymous |
10/15 |
- |
1 |
3-41275680-A-G |
c.1575A>G |
p.A525= |
Synonymous |
10/15 |
- |
1 |
3-41275680-A-T |
c.1575A>T |
p.A525= |
Synonymous |
10/15 |
- |
1 |
3-41275681-C-T |
c.1576C>T |
p.P526S |
Missense |
10/15 |
- |
1 |
3-41275682-C-T |
c.1577C>T |
p.P526L |
Missense |
10/15 |
- |
1 |
3-41275683-T-A |
c.1578T>A |
p.P526= |
Synonymous |
10/15 |
- |
2 |
3-41275683-T-C |
c.1578T>C |
p.P526= |
Synonymous |
10/15 |
- |
3 |
3-41275683-T-G |
c.1578T>G |
p.P526= |
Synonymous |
10/15 |
- |
2 |
3-41275685-T-A |
c.1580T>A |
p.L527* |
Nonsense |
10/15 |
- |
3 |
3-41275686-G-T |
c.1581G>T |
p.L527F |
Missense |
10/15 |
- |
1 |
3-41275687-C-G |
c.1582C>G |
p.R528G |
Missense |
10/15 |
- |
1 |
3-41275687-CGT-TGA |
c.1582_1584delinsTGA |
p.R528* |
Nonsense |
10/15 |
- |
2 |
3-41275687-C-T |
c.1582C>T |
p.R528C |
Missense |
10/15 |
- |
11 |
3-41275688-G-A |
c.1583G>A |
p.R528H |
Missense |
10/15 |
- |
9 |
3-41275688-GT-AA |
c.1583_1584delinsAA |
p.R528Q |
Missense |
10/15 |
- |
2 |
3-41275690-G-A |
c.1585G>A |
p.E529K |
Missense |
10/15 |
- |
1 |
3-41275690-G-T |
c.1585G>T |
p.E529* |
Nonsense |
10/15 |
- |
1 |
3-41275692-G-A |
c.1587G>A |
p.E529= |
Synonymous |
10/15 |
- |
1 |
3-41275693-C-A |
c.1588C>A |
p.Q530K |
Missense |
10/15 |
- |
1 |
3-41275693-C-T |
c.1588C>T |
p.Q530* |
Nonsense |
10/15 |
- |
2 |
3-41275696-G-C |
c.1591G>C |
p.G531R |
Missense |
10/15 |
- |
1 |
3-41275697-G-A |
c.1592G>A |
p.G531D |
Missense |
10/15 |
- |
1 |
3-41275698-T-A |
c.1593T>A |
p.G531= |
Synonymous |
10/15 |
- |
1 |
3-41275698-T-C |
c.1593T>C |
p.G531= |
Synonymous |
10/15 |
- |
1 |
3-41275698-T-G |
c.1593T>G |
p.G531= |
Synonymous |
10/15 |
- |
1 |
3-41275699-TG-T |
c.1594del |
p.A532Pfs*5 |
Frameshift |
10/15 |
- |
1 |
3-41275700-C-T |
c.1595C>T |
p.A532V |
Missense |
10/15 |
- |
5 |
3-41275701-C-A |
c.1596C>A |
p.A532= |
Synonymous |
10/15 |
- |
1 |
3-41275701-C-G |
c.1596C>G |
p.A532= |
Synonymous |
10/15 |
- |
1 |
3-41275701-C-T |
c.1596C>T |
p.A532= |
Synonymous |
10/15 |
- |
1 |
3-41275702-A-T |
c.1597A>T |
p.I533F |
Missense |
10/15 |
- |
1 |
3-41275705-C-T |
c.1600C>T |
p.P534S |
Missense |
10/15 |
- |
1 |
3-41275706-C-G |
c.1601C>G |
p.P534R |
Missense |
10/15 |
- |
1 |
3-41275706-C-T |
c.1601C>T |
p.P534L |
Missense |
10/15 |
- |
3 |
3-41275707-CA-C |
c.1602del |
p.R535Dfs*2 |
Frameshift |
10/15 |
- |
1 |
3-41275708-CGA-TGT |
c.1603_1605delinsTGT |
p.R535C |
Missense |
10/15 |
- |
1 |
3-41275708-C-T |
c.1603C>T |
p.R535* |
Nonsense |
10/15 |
- |
24 |
3-41275709-G-A |
c.1604G>A |
p.R535Q |
Missense |
10/15 |
- |
12 |
3-41275709-G-C |
c.1604G>C |
p.R535P |
Missense |
10/15 |
- |
1 |
3-41275712-T-C |
c.1607T>C |
p.L536P |
Missense |
10/15 |
- |
1 |
3-41275712-T-G |
c.1607T>G |
p.L536R |
Missense |
10/15 |
- |
1 |
3-41275711-C-T |
c.1606C>T |
p.L536= |
Synonymous |
10/15 |
- |
3 |
3-41275713-A-C |
c.1608A>C |
p.L536= |
Synonymous |
10/15 |
- |
3 |
3-41275713-A-G |
c.1608A>G |
p.L536= |
Synonymous |
10/15 |
- |
3 |
3-41275713-A-T |
c.1608A>T |
p.L536= |
Synonymous |
10/15 |
- |
4 |
3-41275714-G-A |
c.1609G>A |
p.V537I |
Missense |
10/15 |
- |
1 |
3-41275716-T-A |
c.1611T>A |
p.V537= |
Synonymous |
10/15 |
- |
1 |
3-41275716-T-C |
c.1611T>C |
p.V537= |
Synonymous |
10/15 |
- |
1 |
3-41275716-T-G |
c.1611T>G |
p.V537= |
Synonymous |
10/15 |
- |
1 |
3-41275717-C-A |
c.1612C>A |
p.Q538K |
Missense |
10/15 |
- |
2 |
3-41275717-C-T |
c.1612C>T |
p.Q538* |
Nonsense |
10/15 |
- |
8 |
3-41275720-T-C |
c.1615T>C |
p.L539= |
Synonymous |
10/15 |
- |
1 |
3-41275722-G-A |
c.1617G>A |
p.L539= |
Synonymous |
10/15 |
- |
1 |
3-41275723-C-G |
c.1618C>G |
p.L540V |
Missense |
10/15 |
- |
1 |
3-41275726-G-A |
c.1621G>A |
p.V541I |
Missense |
10/15 |
- |
2 |
3-41275727-T-C |
c.1622T>C |
p.V541A |
Missense |
10/15 |
- |
1 |
3-41275729-C-T |
c.1624C>T |
p.R542C |
Missense |
10/15 |
- |
9 |
3-41275730-G-A |
c.1625G>A |
p.R542H |
Missense |
10/15 |
- |
9 |
3-41275732-G-GC |
c.1628dup |
p.H544Tfs*28 |
Frameshift |
10/15 |
- |
1 |
3-41275733-C-A |
c.1628C>A |
p.A543E |
Missense |
10/15 |
- |
1 |
3-41275733-C-T |
c.1628C>T |
p.A543V |
Missense |
10/15 |
- |
2 |
3-41275736-A-G |
c.1631A>G |
p.H544R |
Missense |
10/15 |
- |
1 |
3-41275738-C-T |
c.1633C>T |
p.Q545* |
Nonsense |
10/15 |
- |
8 |
3-41275740-G-A |
c.1635G>A |
p.Q545= |
Synonymous |
10/15 |
- |
1 |
3-41275740-G-T |
c.1635G>T |
p.Q545H |
Missense |
10/15 |
- |
1 |
3-41275741-G-A |
c.1636G>A |
p.D546N |
Missense |
10/15 |
- |
1 |
3-41275742-A-G |
c.1637A>G |
p.D546G |
Missense |
10/15 |
- |
2 |
3-41275742-A-T |
c.1637A>T |
p.D546V |
Missense |
10/15 |
- |
1 |
3-41275743-T-A |
c.1638T>A |
p.D546E |
Missense |
10/15 |
- |
1 |
3-41275743-T-G |
c.1638T>G |
p.D546E |
Missense |
10/15 |
- |
2 |
3-41275745-C-T |
c.1640C>T |
p.T547I |
Missense |
10/15 |
- |
1 |
3-41275746-CCCA-C |
c.1641_1643del |
p.Q548del |
InFrameDeletion |
10/15 |
- |
1 |
3-41275747-C-T |
c.1642C>T |
p.Q548* |
Nonsense |
10/15 |
- |
1 |
3-41275749-G-A |
c.1644G>A |
p.Q548= |
Synonymous |
10/15 |
- |
1 |
3-41275750-CG-AC |
c.1645_1646delinsAC |
p.R549T |
Missense |
10/15 |
- |
1 |
3-41275750-CGC-TGA |
c.1645_1647delinsTGA |
p.R549* |
Nonsense |
10/15 |
- |
1 |
3-41275750-CGC-TGG |
c.1645_1647delinsTGG |
p.R549W |
Missense |
10/15 |
- |
1 |
3-41275750-C-T |
c.1645C>T |
p.R549C |
Missense |
10/15 |
- |
4 |
3-41275751-G-A |
c.1646G>A |
p.R549H |
Missense |
10/15 |
- |
3 |
3-41275753-CGT-TGG |
c.1648_1650delinsTGG |
p.R550W |
Missense |
10/15 |
- |
1 |
3-41275753-C-T |
c.1648C>T |
p.R550C |
Missense |
10/15 |
- |
2 |
3-41275754-G-A |
c.1649G>A |
p.R550H |
Missense |
10/15 |
- |
2 |
3-41275754-G-T |
c.1649G>T |
p.R550L |
Missense |
10/15 |
- |
2 |
3-41275756-AC-TA |
c.1651_1652delinsTA |
p.T551* |
Nonsense |
10/15 |
- |
1 |
3-41275757-C-A |
c.1652C>A |
p.T551K |
Missense |
10/15 |
- |
2 |
3-41275757-C-T |
c.1652C>T |
p.T551M |
Missense |
10/15 |
- |
14 |
3-41275758-G-A |
c.1653G>A |
p.T551= |
Synonymous |
10/15 |
- |
1 |
3-41275758-G-C |
c.1653G>C |
p.T551= |
Synonymous |
10/15 |
- |
1 |
3-41275758-G-T |
c.1653G>T |
p.T551= |
Synonymous |
10/15 |
- |
1 |
3-41275759-TC-CG |
c.1654_1655delinsCG |
p.S552R |
Missense |
10/15 |
- |
1 |
3-41275759-TC-GA |
c.1654_1655inv |
p.S552D |
Missense |
10/15 |
- |
3 |
3-41275759-T-G |
c.1654T>G |
p.S552A |
Missense |
10/15 |
- |
7 |
3-41275760-CC-AA |
c.1655_1656delinsAA |
p.S552* |
Nonsense |
10/15 |
- |
1 |
3-41275760-C-T |
c.1655C>T |
p.S552F |
Missense |
10/15 |
- |
2 |
3-41275761-C-A |
c.1656C>A |
p.S552= |
Synonymous |
10/15 |
- |
1 |
3-41275761-C-G |
c.1656C>G |
p.S552= |
Synonymous |
10/15 |
- |
1 |
3-41275761-C-T |
c.1656C>T |
p.S552= |
Synonymous |
10/15 |
- |
1 |
3-41275762-A-G |
c.1657A>G |
p.M553V |
Missense |
10/15 |
- |
11 |
3-41275763-T-A |
c.1658T>A |
p.M553K |
Missense |
10/15 |
- |
1 |
3-41275764-G-A |
c.1659G>A |
p.M553I |
Missense |
10/15 |
- |
1 |
3-41275769-G-A |
c.1664G>A |
p.G555E |
Missense |
10/15 |
- |
1 |
3-41275769-G-C |
c.1664G>C |
p.G555A |
Missense |
10/15 |
- |
7 |
3-41275767-TG-T |
c.1665del |
p.T556Hfs*14 |
Frameshift |
10/15 |
- |
2 |
3-41275767-T-TG |
c.1665dup |
p.T556Dfs*16 |
Frameshift |
10/15 |
- |
2 |
3-41275771-A-C |
c.1666A>C |
p.T556P |
Missense |
10/15 |
- |
2 |
3-41275774-AC-A |
c.1669del |
p.Q557Sfs*13 |
Frameshift |
10/15 |
- |
1 |
3-41275774-C-G |
c.1669C>G |
p.Q557E |
Missense |
10/15 |
- |
1 |
3-41275774-C-T |
c.1669C>T |
p.Q557* |
Nonsense |
10/15 |
- |
1 |
3-41275775-A-G |
c.1670A>G |
p.Q557R |
Missense |
10/15 |
- |
1 |
3-41275777-C-T |
c.1672C>T |
p.Q558* |
Nonsense |
10/15 |
- |
5 |
3-41275779-G-C |
c.1674G>C |
p.Q558H |
Missense |
10/15 |
- |
1 |
3-41275779-G-T |
c.1674G>T |
p.Q558H |
Missense |
10/15 |
- |
1 |
3-41275780-C-T |
c.1675C>T |
p.Q559* |
Nonsense |
10/15 |
- |
2 |
3-41275781-A-G |
c.1676A>G |
p.Q559R |
Missense |
10/15 |
- |
1 |
3-41275780-CA-C |
c.1677del |
p.Q559Hfs*11 |
Frameshift |
10/15 |
- |
1 |
3-41275783-T-A |
c.1678T>A |
p.F560I |
Missense |
10/15 |
- |
1 |
3-41275783-T-C |
c.1678T>C |
p.F560L |
Missense |
10/15 |
- |
1 |
3-41275783-TT-AA |
c.1678_1679inv |
p.F560N |
Missense |
10/15 |
- |
1 |
3-41275785-T-A |
c.1680T>A |
p.F560L |
Missense |
10/15 |
- |
1 |
3-41275785-T-G |
c.1680T>G |
p.F560L |
Missense |
10/15 |
- |
1 |
3-41275785-T-C |
c.1680T>C |
p.F560= |
Synonymous |
10/15 |
- |
1 |
3-41275785-T-TG |
c.1681dup |
p.V561Gfs*11 |
SpliceDonorInsertion |
10/15 |
- |
1 |
3-41275786-G-T |
c.1681G>T |
p.V561L |
Missense |
10/15 |
- |
1 |
3-41275787-T-C |
c.1682T>C |
p.V561A |
Missense |
10/15 |
- |
1 |
3-41275787-TG-AC |
c.1682_1683delinsAC |
p.V561D |
Missense |
10/15 |
- |
1 |
3-41275788-G-C |
c.1683G>C |
p.V561= |
Synonymous |
10/15 |
- |
1 |
3-41275790-T-C |
c.1683+2T>C |
- |
IntronicSNV |
- |
10/14 |
1 |
3-41275791-A-G |
c.1683+3A>G |
- |
IntronicSNV |
- |
10/14 |
1 |
3-41275805-A-G |
c.1683+17A>G |
- |
IntronicSNV |
- |
10/14 |
4 |
3-41275823-A-G |
c.1683+35A>G |
- |
IntronicSNV |
- |
10/14 |
1 |
3-41275876-T-TC |
c.1683+94dup |
- |
IntronicInsertion |
- |
10/14 |
1 |
3-41276166-A-T |
c.1683+378A>T |
- |
IntronicSNV |
- |
10/14 |
2 |
3-41276407-A-G |
c.1683+619A>G |
- |
IntronicSNV |
- |
10/14 |
1 |
3-41277040-C-T |
c.1684-175C>T |
- |
IntronicSNV |
- |
10/14 |
9 |
3-41277213-A-AG |
c.1684dup |
p.E562Gfs*10 |
SpliceAcceptorInsertion |
11/15 |
- |
3 |
3-41277215-G-A |
c.1684G>A |
p.E562K |
Missense |
11/15 |
- |
1 |
3-41277216-A-G |
c.1685A>G |
p.E562G |
Missense |
11/15 |
- |
2 |
3-41277218-G-A |
c.1687G>A |
p.G563R |
Missense |
11/15 |
- |
1 |
3-41277218-G-C |
c.1687G>C |
p.G563R |
Missense |
11/15 |
- |
1 |
3-41277219-G-A |
c.1688G>A |
p.G563E |
Missense |
11/15 |
- |
1 |
3-41277216-A-AG |
c.1690dup |
p.V564Gfs*8 |
Frameshift |
11/15 |
- |
1 |
3-41277216-AG-A |
c.1690del |
p.V564Sfs*6 |
Frameshift |
11/15 |
- |
5 |
3-41277222-T-G |
c.1691T>G |
p.V564G |
Missense |
11/15 |
- |
1 |
3-41277224-C-G |
c.1693C>G |
p.R565G |
Missense |
11/15 |
- |
3 |
3-41277224-CGC-TGG |
c.1693_1695delinsTGG |
p.R565W |
Missense |
11/15 |
- |
1 |
3-41277224-C-T |
c.1693C>T |
p.R565C |
Missense |
11/15 |
- |
8 |
3-41277225-G-A |
c.1694G>A |
p.R565H |
Missense |
11/15 |
- |
7 |
3-41277225-G-T |
c.1694G>T |
p.R565L |
Missense |
11/15 |
- |
1 |
3-41277227-A-AT |
c.1697dup |
p.M566Ifs*6 |
Frameshift |
11/15 |
- |
1 |
3-41277228-T-C |
c.1697T>C |
p.M566T |
Missense |
11/15 |
- |
2 |
3-41277229-TGGA-T |
c.1698_1700del |
p.M566_E567delinsI |
MultiAAMissense |
11/15 |
- |
1 |
3-41277230-G-A |
c.1699G>A |
p.E567K |
Missense |
11/15 |
- |
2 |
3-41277230-G-T |
c.1699G>T |
p.E567* |
Nonsense |
11/15 |
- |
2 |
3-41277233-G-A |
c.1702G>A |
p.E568K |
Missense |
11/15 |
- |
8 |
3-41277233-G-T |
c.1702G>T |
p.E568* |
Nonsense |
11/15 |
- |
1 |
3-41277234-A-G |
c.1703A>G |
p.E568G |
Missense |
11/15 |
- |
1 |
3-41277235-AAT-A |
c.1706_1707del |
p.I569Sfs*2 |
Frameshift |
11/15 |
- |
1 |
3-41277237-T-A |
c.1706T>A |
p.I569K |
Missense |
11/15 |
- |
1 |
3-41277237-T-C |
c.1706T>C |
p.I569T |
Missense |
11/15 |
- |
1 |
3-41277237-T-G |
c.1706T>G |
p.I569R |
Missense |
11/15 |
- |
1 |
3-41277238-A-G |
c.1707A>G |
p.I569M |
Missense |
11/15 |
- |
1 |
3-41277238-TAGTTGAAGGTTGTACCGGAGCCCTTCACATCCTAGCTCGGGATGTTCACAACCGAATTG-T |
c.1707_1765del |
p.V570Yfs*19 |
InFrameDeletion |
11/15 |
- |
1 |
3-41277238-TA-T |
c.1707del |
p.I569Mfs*12 |
Frameshift |
11/15 |
- |
1 |
3-41277239-G-A |
c.1708G>A |
p.V570I |
Missense |
11/15 |
- |
1 |
3-41277240-T-G |
c.1709T>G |
p.V570G |
Missense |
11/15 |
- |
1 |
3-41277242-G-T |
c.1711G>T |
p.E571* |
Nonsense |
11/15 |
- |
2 |
3-41277244-A-G |
c.1713A>G |
p.E571= |
Synonymous |
11/15 |
- |
2 |
3-41277245-G-T |
c.1714G>T |
p.G572C |
Missense |
11/15 |
- |
2 |
3-41277246-G-T |
c.1715G>T |
p.G572V |
Missense |
11/15 |
- |
1 |
3-41277248-T-C |
c.1717T>C |
p.C573R |
Missense |
11/15 |
- |
1 |
3-41277249-G-C |
c.1718G>C |
p.C573S |
Missense |
11/15 |
- |
1 |
3-41277249-G-T |
c.1718G>T |
p.C573F |
Missense |
11/15 |
- |
1 |
3-41277250-T-C |
c.1719T>C |
p.C573= |
Synonymous |
11/15 |
- |
1 |
3-41277251-A-G |
c.1720A>G |
p.T574A |
Missense |
11/15 |
- |
1 |
3-41277251-TACC-T |
c.1720_1722del |
p.T574del |
InFrameDeletion |
11/15 |
- |
1 |
3-41277253-C-A |
c.1722C>A |
p.T574= |
Synonymous |
11/15 |
- |
4 |
3-41277253-C-G |
c.1722C>G |
p.T574= |
Synonymous |
11/15 |
- |
1 |
3-41277253-C-T |
c.1722C>T |
p.T574= |
Synonymous |
11/15 |
- |
3 |
3-41277254-G-A |
c.1723G>A |
p.G575R |
Missense |
11/15 |
- |
16 |
3-41277254-G-C |
c.1723G>C |
p.G575R |
Missense |
11/15 |
- |
7 |
3-41277254-GGA-AGC |
c.1723_1725delinsAGC |
p.G575S |
Missense |
11/15 |
- |
1 |
3-41277254-G-T |
c.1723G>T |
p.G575* |
Nonsense |
11/15 |
- |
1 |
3-41277255-G-C |
c.1724G>C |
p.G575A |
Missense |
11/15 |
- |
1 |
3-41277256-A-C |
c.1725A>C |
p.G575= |
Synonymous |
11/15 |
- |
1 |
3-41277256-A-G |
c.1725A>G |
p.G575= |
Synonymous |
11/15 |
- |
1 |
3-41277256-A-T |
c.1725A>T |
p.G575= |
Synonymous |
11/15 |
- |
1 |
3-41277257-G-A |
c.1726G>A |
p.A576T |
Missense |
11/15 |
- |
1 |
3-41277258-C-T |
c.1727C>T |
p.A576V |
Missense |
11/15 |
- |
1 |
3-41277259-C-A |
c.1728C>A |
p.A576= |
Synonymous |
11/15 |
- |
1 |
3-41277259-C-G |
c.1728C>G |
p.A576= |
Synonymous |
11/15 |
- |
1 |
3-41277259-C-T |
c.1728C>T |
p.A576= |
Synonymous |
11/15 |
- |
1 |
3-41277260-C-A |
c.1729C>A |
p.L577I |
Missense |
11/15 |
- |
1 |
3-41277260-C-G |
c.1729C>G |
p.L577V |
Missense |
11/15 |
- |
2 |
3-41277260-C-T |
c.1729C>T |
p.L577F |
Missense |
11/15 |
- |
1 |
3-41277259-CCTT-C |
c.1730_1732del |
p.L577del |
InFrameDeletion |
11/15 |
- |
1 |
3-41277261-T-A |
c.1730T>A |
p.L577H |
Missense |
11/15 |
- |
1 |
3-41277262-T-TA |
c.1731_1732insA |
p.H578Tfs*31 |
Frameshift |
11/15 |
- |
1 |
3-41277263-C-T |
c.1732C>T |
p.H578Y |
Missense |
11/15 |
- |
1 |
3-41277264-A-G |
c.1733A>G |
p.H578R |
Missense |
11/15 |
- |
4 |
3-41277264-A-T |
c.1733A>T |
p.H578L |
Missense |
11/15 |
- |
1 |
3-41277267-T-C |
c.1736T>C |
p.I579T |
Missense |
11/15 |
- |
1 |
3-41277268-C-A |
c.1737C>A |
p.I579= |
Synonymous |
11/15 |
- |
1 |
3-41277268-C-T |
c.1737C>T |
p.I579= |
Synonymous |
11/15 |
- |
3 |
3-41277269-C-A |
c.1738C>A |
p.L580I |
Missense |
11/15 |
- |
2 |
3-41277269-C-T |
c.1738C>T |
p.L580= |
Synonymous |
11/15 |
- |
1 |
3-41277268-CCTAG-C |
c.1740_1743del |
p.A581Gfs*12 |
Frameshift |
11/15 |
- |
1 |
3-41277272-G-A |
c.1741G>A |
p.A581T |
Missense |
11/15 |
- |
2 |
3-41277275-C-T |
c.1744C>T |
p.R582W |
Missense |
11/15 |
- |
17 |
3-41277276-G-A |
c.1745G>A |
p.R582Q |
Missense |
11/15 |
- |
16 |
3-41277276-GG-AT |
c.1745_1746delinsAT |
p.R582H |
Missense |
11/15 |
- |
1 |
3-41277276-G-T |
c.1745G>T |
p.R582L |
Missense |
11/15 |
- |
4 |
3-41277278-G-A |
c.1747G>A |
p.D583N |
Missense |
11/15 |
- |
2 |
3-41277279-A-T |
c.1748A>T |
p.D583V |
Missense |
11/15 |
- |
1 |
3-41277281-G-A |
c.1750G>A |
p.V584I |
Missense |
11/15 |
- |
1 |
3-41277281-G-T |
c.1750G>T |
p.V584F |
Missense |
11/15 |
- |
1 |
3-41277283-T-A |
c.1752T>A |
p.V584= |
Synonymous |
11/15 |
- |
2 |
3-41277283-T-C |
c.1752T>C |
p.V584= |
Synonymous |
11/15 |
- |
1 |
3-41277283-T-G |
c.1752T>G |
p.V584= |
Synonymous |
11/15 |
- |
1 |
3-41277284-C-T |
c.1753C>T |
p.H585Y |
Missense |
11/15 |
- |
2 |
3-41277287-A-G |
c.1756A>G |
p.N586D |
Missense |
11/15 |
- |
1 |
3-41277290-C-A |
c.1759C>A |
p.R587= |
Synonymous |
11/15 |
- |
1 |
3-41277290-CGA-ATG |
c.1759_1761delinsATG |
p.R587M |
Missense |
11/15 |
- |
1 |
3-41277290-CGA-TGT |
c.1759_1761delinsTGT |
p.R587C |
Missense |
11/15 |
- |
2 |
3-41277290-C-T |
c.1759C>T |
p.R587* |
Nonsense |
11/15 |
- |
9 |
3-41277292-A-C |
c.1761A>C |
p.R587= |
Synonymous |
11/15 |
- |
1 |
3-41277292-A-G |
c.1761A>G |
p.R587= |
Synonymous |
11/15 |
- |
1 |
3-41277292-A-T |
c.1761A>T |
p.R587= |
Synonymous |
11/15 |
- |
1 |
3-41277291-CGA-C |
c.1760_1761del |
p.R587Hfs*21 |
Frameshift |
11/15 |
- |
1 |
3-41277291-G-A |
c.1760G>A |
p.R587Q |
Missense |
11/15 |
- |
26 |
3-41277291-G-C |
c.1760G>C |
p.R587P |
Missense |
11/15 |
- |
2 |
3-41277291-GA-G |
c.1762del |
p.I588Lfs*6 |
Frameshift |
11/15 |
- |
1 |
3-41277296-G-A |
c.1765G>A |
p.V589I |
Missense |
11/15 |
- |
1 |
3-41277298-T-TA |
c.1768dup |
p.I590Nfs*19 |
Frameshift |
11/15 |
- |
1 |
3-41277300-T-A |
c.1769T>A |
p.I590N |
Missense |
11/15 |
- |
1 |
3-41277301-C-A |
c.1770C>A |
p.I590= |
Synonymous |
11/15 |
- |
1 |
3-41277301-C-T |
c.1770C>T |
p.I590= |
Synonymous |
11/15 |
- |
1 |
3-41277302-A-G |
c.1771A>G |
p.R591G |
Missense |
11/15 |
- |
1 |
3-41277303-G-A |
c.1772G>A |
p.R591K |
Missense |
11/15 |
- |
2 |
3-41277305-G-A |
c.1774G>A |
p.G592R |
Missense |
11/15 |
- |
1 |
3-41277305-G-T |
c.1774G>T |
p.G592* |
Nonsense |
11/15 |
- |
2 |
3-41277310-A-G |
c.1779A>G |
p.L593= |
Synonymous |
11/15 |
- |
1 |
3-41277315-C-T |
c.1784C>T |
p.T595I |
Missense |
11/15 |
- |
6 |
3-41277320-C-T |
c.1789C>T |
p.P597S |
Missense |
11/15 |
- |
5 |
3-41277321-C-A |
c.1790C>A |
p.P597Q |
Missense |
11/15 |
- |
4 |
3-41277321-C-T |
c.1790C>T |
p.P597L |
Missense |
11/15 |
- |
1 |
3-41277323-T-G |
c.1792T>G |
p.L598V |
Missense |
11/15 |
- |
1 |
3-41277326-T-C |
c.1795T>C |
p.F599L |
Missense |
11/15 |
- |
1 |
3-41277327-T-G |
c.1796T>G |
p.F599C |
Missense |
11/15 |
- |
1 |
3-41277329-G-A |
c.1798G>A |
p.V600M |
Missense |
11/15 |
- |
1 |
3-41277329-G-C |
c.1798G>C |
p.V600L |
Missense |
11/15 |
- |
1 |
3-41277329-G-T |
c.1798G>T |
p.V600L |
Missense |
11/15 |
- |
4 |
3-41277329-GT-AA |
c.1798_1799delinsAA |
p.V600K |
Missense |
11/15 |
- |
6 |
3-41277329-GT-AG |
c.1798_1799delinsAG |
p.V600R |
Missense |
11/15 |
- |
3 |
3-41277330-T-A |
c.1799T>A |
p.V600E |
Missense |
11/15 |
- |
89 |
3-41277330-T-C |
c.1799T>C |
p.V600A |
Missense |
11/15 |
- |
1 |
3-41277330-T-G |
c.1799T>G |
p.V600G |
Missense |
11/15 |
- |
7 |
3-41277330-TG-AC |
c.1799_1800delinsAC |
p.V600D |
Missense |
11/15 |
- |
1 |
3-41277331-G-A |
c.1800G>A |
p.V600= |
Synonymous |
11/15 |
- |
1 |
3-41277331-G-C |
c.1800G>C |
p.V600= |
Synonymous |
11/15 |
- |
1 |
3-41277331-G-T |
c.1800G>T |
p.V600= |
Synonymous |
11/15 |
- |
2 |
3-41277332-C-T |
c.1801C>T |
p.Q601* |
Nonsense |
11/15 |
- |
8 |
3-41277335-G-A |
c.1803+1G>A |
- |
IntronicSNV |
- |
11/14 |
1 |
3-41277335-G-C |
c.1803+1G>C |
- |
IntronicSNV |
- |
11/14 |
1 |
3-41277342-T-C |
c.1803+8T>C |
- |
IntronicSNV |
- |
11/14 |
1 |
3-41277354-T-C |
c.1803+20T>C |
- |
IntronicSNV |
- |
11/14 |
1 |
3-41277840-C-T |
c.1804C>T |
p.L602= |
Synonymous |
12/15 |
- |
1 |
3-41277843-CTT-TGG |
c.1807_1809delinsTGG |
p.L603W |
Missense |
12/15 |
- |
1 |
3-41277844-T-G |
c.1808T>G |
p.L603R |
Missense |
12/15 |
- |
1 |
3-41277846-TAT-GAG |
c.1810_1812delinsGAG |
p.Y604E |
Missense |
12/15 |
- |
1 |
3-41277847-A-T |
c.1811A>T |
p.Y604F |
Missense |
12/15 |
- |
1 |
3-41277849-T-C |
c.1813T>C |
p.S605P |
Missense |
12/15 |
- |
1 |
3-41277849-TC-GA |
c.1813_1814inv |
p.S605D |
Missense |
12/15 |
- |
1 |
3-41277849-T-G |
c.1813T>G |
p.S605A |
Missense |
12/15 |
- |
2 |
3-41277850-C-T |
c.1814C>T |
p.S605F |
Missense |
12/15 |
- |
3 |
3-41277852-C-G |
c.1816C>G |
p.P606A |
Missense |
12/15 |
- |
2 |
3-41277853-C-T |
c.1817C>T |
p.P606L |
Missense |
12/15 |
- |
10 |
3-41277855-A-G |
c.1819A>G |
p.I607V |
Missense |
12/15 |
- |
1 |
3-41277855-AT-A |
c.1821del |
p.I607Mfs*7 |
Frameshift |
12/15 |
- |
1 |
3-41277858-G-T |
c.1822G>T |
p.E608* |
Nonsense |
12/15 |
- |
2 |
3-41277859-A-G |
c.1823A>G |
p.E608G |
Missense |
12/15 |
- |
1 |
3-41277861-A-G |
c.1825A>G |
p.N609D |
Missense |
12/15 |
- |
1 |
3-41277863-C-T |
c.1827C>T |
p.N609= |
Synonymous |
12/15 |
- |
1 |
3-41277864-A-G |
c.1828A>G |
p.I610V |
Missense |
12/15 |
- |
1 |
3-41277864-A-T |
c.1828A>T |
p.I610F |
Missense |
12/15 |
- |
1 |
3-41277866-C-A |
c.1830C>A |
p.I610= |
Synonymous |
12/15 |
- |
1 |
3-41277866-C-G |
c.1830C>G |
p.I610M |
Missense |
12/15 |
- |
1 |
3-41277866-C-T |
c.1830C>T |
p.I610= |
Synonymous |
12/15 |
- |
2 |
3-41277871-G-A |
c.1835G>A |
p.R612K |
Missense |
12/15 |
- |
1 |
3-41277871-G-C |
c.1835G>C |
p.R612T |
Missense |
12/15 |
- |
3 |
3-41277870-A-C |
c.1834A>C |
p.R612= |
Synonymous |
12/15 |
- |
1 |
3-41277872-A-G |
c.1836A>G |
p.R612= |
Synonymous |
12/15 |
- |
1 |
3-41277873-G-A |
c.1837G>A |
p.V613I |
Missense |
12/15 |
- |
2 |
3-41277873-G-C |
c.1837G>C |
p.V613L |
Missense |
12/15 |
- |
1 |
3-41277873-G-T |
c.1837G>T |
p.V613L |
Missense |
12/15 |
- |
1 |
3-41277873-GTA-ATG |
c.1837_1839delinsATG |
p.V613M |
Missense |
12/15 |
- |
1 |
3-41277874-T-C |
c.1838T>C |
p.V613A |
Missense |
12/15 |
- |
1 |
3-41277876-G-A |
c.1840G>A |
p.A614T |
Missense |
12/15 |
- |
2 |
3-41277877-C-A |
c.1841C>A |
p.A614D |
Missense |
12/15 |
- |
1 |
3-41277877-C-T |
c.1841C>T |
p.A614V |
Missense |
12/15 |
- |
1 |
3-41277878-T-TG |
c.1843dup |
p.A615Gfs*6 |
Frameshift |
12/15 |
- |
1 |
3-41277880-C-A |
c.1844C>A |
p.A615E |
Missense |
12/15 |
- |
1 |
3-41277880-C-T |
c.1844C>T |
p.A615V |
Missense |
12/15 |
- |
2 |
3-41277881-A-C |
c.1845A>C |
p.A615= |
Synonymous |
12/15 |
- |
1 |
3-41277881-A-G |
c.1845A>G |
p.A615= |
Synonymous |
12/15 |
- |
1 |
3-41277881-A-T |
c.1845A>T |
p.A615= |
Synonymous |
12/15 |
- |
1 |
3-41277882-G-T |
c.1846G>T |
p.G616W |
Missense |
12/15 |
- |
1 |
3-41277883-G-A |
c.1847G>A |
p.G616E |
Missense |
12/15 |
- |
2 |
3-41277885-G-A |
c.1849G>A |
p.V617I |
Missense |
12/15 |
- |
2 |
3-41277885-G-T |
c.1849G>T |
p.V617F |
Missense |
12/15 |
- |
8 |
3-41277885-GTC-ATG |
c.1849_1851delinsATG |
p.V617M |
Missense |
12/15 |
- |
1 |
3-41277888-C-G |
c.1852C>G |
p.L618V |
Missense |
12/15 |
- |
1 |
3-41277888-C-T |
c.1852C>T |
p.L618F |
Missense |
12/15 |
- |
2 |
3-41277888-CTC-TGG |
c.1852_1854delinsTGG |
p.L618W |
Missense |
12/15 |
- |
1 |
3-41277888-C-CT |
c.1853dup |
p.C619Lfs*2 |
Frameshift |
12/15 |
- |
1 |
3-41277890-C-T |
c.1854C>T |
p.L618= |
Synonymous |
12/15 |
- |
2 |
3-41277891-T-C |
c.1855T>C |
p.C619R |
Missense |
12/15 |
- |
3 |
3-41277892-G-A |
c.1856G>A |
p.C619Y |
Missense |
12/15 |
- |
13 |
3-41277892-G-T |
c.1856G>T |
p.C619F |
Missense |
12/15 |
- |
1 |
3-41277890-CTG-C |
c.1857_1858del |
p.C619* |
Frameshift |
12/15 |
- |
1 |
3-41277893-T-C |
c.1857T>C |
p.C619= |
Synonymous |
12/15 |
- |
1 |
3-41277894-G-A |
c.1858G>A |
p.E620K |
Missense |
12/15 |
- |
1 |
3-41277894-G-T |
c.1858G>T |
p.E620* |
Nonsense |
12/15 |
- |
1 |
3-41277897-C-A |
c.1861C>A |
p.L621I |
Missense |
12/15 |
- |
1 |
3-41277898-T-C |
c.1862T>C |
p.L621P |
Missense |
12/15 |
- |
1 |
3-41277898-T-G |
c.1862T>G |
p.L621R |
Missense |
12/15 |
- |
1 |
3-41277900-G-A |
c.1864G>A |
p.A622T |
Missense |
12/15 |
- |
1 |
3-41277900-G-C |
c.1864G>C |
p.A622P |
Missense |
12/15 |
- |
4 |
3-41277900-G-T |
c.1864G>T |
p.A622S |
Missense |
12/15 |
- |
5 |
3-41277901-C-T |
c.1865C>T |
p.A622V |
Missense |
12/15 |
- |
1 |
3-41277903-C-G |
c.1867C>G |
p.Q623E |
Missense |
12/15 |
- |
9 |
3-41277903-C-T |
c.1867C>T |
p.Q623* |
Nonsense |
12/15 |
- |
5 |
3-41277904-A-G |
c.1868A>G |
p.Q623R |
Missense |
12/15 |
- |
1 |
3-41277906-G-C |
c.1870G>C |
p.D624H |
Missense |
12/15 |
- |
1 |
3-41277907-A-G |
c.1871A>G |
p.D624G |
Missense |
12/15 |
- |
1 |
3-41277908-C-A |
c.1872C>A |
p.D624E |
Missense |
12/15 |
- |
1 |
3-41277908-C-G |
c.1872C>G |
p.D624E |
Missense |
12/15 |
- |
1 |
3-41277912-G-T |
c.1876G>T |
p.E626* |
Nonsense |
12/15 |
- |
2 |
3-41277915-G-T |
c.1879G>T |
p.A627S |
Missense |
12/15 |
- |
2 |
3-41277920-A-C |
c.1884A>C |
p.A628= |
Synonymous |
12/15 |
- |
1 |
3-41277920-A-G |
c.1884A>G |
p.A628= |
Synonymous |
12/15 |
- |
2 |
3-41277920-A-T |
c.1884A>T |
p.A628= |
Synonymous |
12/15 |
- |
1 |
3-41277924-G-A |
c.1888G>A |
p.A630T |
Missense |
12/15 |
- |
1 |
3-41277925-C-T |
c.1889C>T |
p.A630V |
Missense |
12/15 |
- |
1 |
3-41277927-A-G |
c.1891A>G |
p.I631V |
Missense |
12/15 |
- |
1 |
3-41277933-G-C |
c.1897G>C |
p.A633P |
Missense |
12/15 |
- |
1 |
3-41277934-C-T |
c.1898C>T |
p.A633V |
Missense |
12/15 |
- |
1 |
3-41277935-T-A |
c.1899T>A |
p.A633= |
Synonymous |
12/15 |
- |
2 |
3-41277935-T-C |
c.1899T>C |
p.A633= |
Synonymous |
12/15 |
- |
2 |
3-41277935-T-G |
c.1899T>G |
p.A633= |
Synonymous |
12/15 |
- |
2 |
3-41277936-G-A |
c.1900G>A |
p.E634K |
Missense |
12/15 |
- |
1 |
3-41277936-G-T |
c.1900G>T |
p.E634* |
Nonsense |
12/15 |
- |
1 |
3-41277934-CTGAGGGAGCCACAGCTCCTCTGACAGAGTTACTTCACTCTAGGAATGAAGG-C |
c.1901_1951del |
p.E634_G650del |
InFrameDeletion |
12/15 |
- |
1 |
3-41277938-G-C |
c.1902G>C |
p.E634D |
Missense |
12/15 |
- |
2 |
3-41277938-G-T |
c.1902G>T |
p.E634D |
Missense |
12/15 |
- |
3 |
3-41277940-G-A |
c.1904G>A |
p.G635E |
Missense |
12/15 |
- |
1 |
3-41277939-GGA-G |
c.1905_1906del |
p.A636Hfs*11 |
Frameshift |
12/15 |
- |
1 |
3-41277942-G-A |
c.1906G>A |
p.A636T |
Missense |
12/15 |
- |
2 |
3-41277942-G-C |
c.1906G>C |
p.A636P |
Missense |
12/15 |
- |
1 |
3-41277943-C-A |
c.1907C>A |
p.A636D |
Missense |
12/15 |
- |
1 |
3-41277943-C-T |
c.1907C>T |
p.A636V |
Missense |
12/15 |
- |
1 |
3-41277945-A-T |
c.1909A>T |
p.T637S |
Missense |
12/15 |
- |
1 |
3-41277945-CA-C |
c.1909del |
p.T637Qfs*4 |
Frameshift |
12/15 |
- |
1 |
3-41277946-CA-AC |
c.1910_1911delinsAC |
p.T637N |
Missense |
12/15 |
- |
1 |
3-41277946-CA-TG |
c.1910_1911inv |
p.T637M |
Missense |
12/15 |
- |
1 |
3-41277948-G-A |
c.1912G>A |
p.A638T |
Missense |
12/15 |
- |
1 |
3-41277948-GC-TG |
c.1912_1913delinsTG |
p.A638C |
Missense |
12/15 |
- |
1 |
3-41277948-G-T |
c.1912G>T |
p.A638S |
Missense |
12/15 |
- |
1 |
3-41277951-C-G |
c.1915C>G |
p.P639A |
Missense |
12/15 |
- |
1 |
3-41277951-C-T |
c.1915C>T |
p.P639S |
Missense |
12/15 |
- |
2 |
3-41277952-C-T |
c.1916C>T |
p.P639L |
Missense |
12/15 |
- |
1 |
3-41277953-T-TA |
c.1917_1918insA |
p.L640Tfs*8 |
Frameshift |
12/15 |
- |
1 |
3-41277955-CT-C |
c.1919del |
p.L640Rfs*39 |
Frameshift |
12/15 |
- |
1 |
3-41277955-T-A |
c.1919T>A |
p.L640Q |
Missense |
12/15 |
- |
3 |
3-41277955-T-G |
c.1919T>G |
p.L640R |
Missense |
12/15 |
- |
2 |
3-41277954-C-T |
c.1918C>T |
p.L640= |
Synonymous |
12/15 |
- |
2 |
3-41277955-T-TG |
c.1920dup |
p.T641Dfs*7 |
Frameshift |
12/15 |
- |
1 |
3-41277956-G-A |
c.1920G>A |
p.L640= |
Synonymous |
12/15 |
- |
2 |
3-41277956-G-C |
c.1920G>C |
p.L640= |
Synonymous |
12/15 |
- |
2 |
3-41277956-G-T |
c.1920G>T |
p.L640= |
Synonymous |
12/15 |
- |
2 |
3-41277956-TG-T |
c.1920del |
p.T641Qfs*38 |
Frameshift |
12/15 |
- |
1 |
3-41277957-ACA-TGT |
c.1921_1923inv |
p.T641C |
Missense |
12/15 |
- |
1 |
3-41277957-A-G |
c.1921A>G |
p.T641A |
Missense |
12/15 |
- |
1 |
3-41277955-TGACA-T |
c.1922_1925del |
p.T641Sfs*37 |
Frameshift |
12/15 |
- |
1 |
3-41277958-C-CA |
c.1923dup |
p.E642Rfs*6 |
Frameshift |
12/15 |
- |
2 |
3-41277959-A-AT |
c.1923_1924insT |
p.E642* |
Nonsense |
12/15 |
- |
3 |
3-41277959-A-C |
c.1923A>C |
p.T641= |
Synonymous |
12/15 |
- |
1 |
3-41277959-A-G |
c.1923A>G |
p.T641= |
Synonymous |
12/15 |
- |
1 |
3-41277959-A-T |
c.1923A>T |
p.T641= |
Synonymous |
12/15 |
- |
1 |
3-41277958-CAG-C |
c.1925_1926del |
p.E642Vfs*5 |
Frameshift |
12/15 |
- |
5 |
3-41277963-TTA-CAT |
c.1927_1929delinsCAT |
p.L643H |
Missense |
12/15 |
- |
1 |
3-41277966-AC-A |
c.1930del |
p.L644Ffs*35 |
Frameshift |
12/15 |
- |
2 |
3-41277967-T-A |
c.1931T>A |
p.L644H |
Missense |
12/15 |
- |
1 |
3-41277967-T-C |
c.1931T>C |
p.L644P |
Missense |
12/15 |
- |
1 |
3-41277966-CT-C |
c.1932del |
p.H645Tfs*34 |
Frameshift |
12/15 |
- |
1 |
3-41277969-C-G |
c.1933C>G |
p.H645D |
Missense |
12/15 |
- |
1 |
3-41277969-C-T |
c.1933C>T |
p.H645Y |
Missense |
12/15 |
- |
2 |
3-41277970-A-AG |
c.1934_1935insG |
p.H645Qfs*3 |
Frameshift |
12/15 |
- |
1 |
3-41277970-A-C |
c.1934A>C |
p.H645P |
Missense |
12/15 |
- |
1 |
3-41277971-C-G |
c.1935C>G |
p.H645Q |
Missense |
12/15 |
- |
1 |
3-41277973-C-G |
c.1937C>G |
p.S646C |
Missense |
12/15 |
- |
6 |
3-41277973-C-T |
c.1937C>T |
p.S646F |
Missense |
12/15 |
- |
8 |
3-41277973-C-CT |
c.1938dup |
p.R647* |
Nonsense |
12/15 |
- |
1 |
3-41277975-A-G |
c.1939A>G |
p.R647G |
Missense |
12/15 |
- |
1 |
3-41277975-AG-CT |
c.1939_1940inv |
p.R647L |
Missense |
12/15 |
- |
1 |
3-41277975-AG-TA |
c.1939_1940delinsTA |
p.R647* |
Nonsense |
12/15 |
- |
1 |
3-41277976-G-A |
c.1940G>A |
p.R647K |
Missense |
12/15 |
- |
1 |
3-41277976-G-C |
c.1940G>C |
p.R647T |
Missense |
12/15 |
- |
1 |
3-41277976-G-T |
c.1940G>T |
p.R647M |
Missense |
12/15 |
- |
1 |
3-41277978-A-G |
c.1942A>G |
p.N648D |
Missense |
12/15 |
- |
1 |
3-41277979-A-G |
c.1943A>G |
p.N648S |
Missense |
12/15 |
- |
3 |
3-41277981-G-A |
c.1945G>A |
p.E649K |
Missense |
12/15 |
- |
2 |
3-41277981-G-C |
c.1945G>C |
p.E649Q |
Missense |
12/15 |
- |
5 |
3-41277981-G-T |
c.1945G>T |
p.E649* |
Nonsense |
12/15 |
- |
3 |
3-41277982-A-G |
c.1946A>G |
p.E649G |
Missense |
12/15 |
- |
1 |
3-41277984-G-T |
c.1948G>T |
p.G650C |
Missense |
12/15 |
- |
1 |
3-41277985-G-T |
c.1949G>T |
p.G650V |
Missense |
12/15 |
- |
1 |
3-41277987-G-A |
c.1951G>A |
p.V651M |
Missense |
12/15 |
- |
2 |
3-41277988-GT-G |
c.1952del |
p.V651Gfs*28 |
Frameshift |
12/15 |
- |
1 |
3-41277989-G-A |
c.1953G>A |
p.V651= |
Synonymous |
12/15 |
- |
2 |
3-41277989-G-GA |
c.1953_1954insA |
p.A652Sfs*13 |
SpliceDonorInsertion |
12/15 |
- |
2 |
3-41277989-G-GC |
c.1953_1954insC |
p.A652Rfs*13 |
SpliceDonorInsertion |
12/15 |
- |
2 |
3-41277989-G-GT |
c.1953_1954insT |
p.A652Cfs*13 |
SpliceDonorInsertion |
12/15 |
- |
2 |
3-41277990-G-C |
c.1954G>C |
p.A652P |
Missense |
12/15 |
- |
1 |
3-41277991-G-A |
c.1954+1G>A |
- |
IntronicSNV |
- |
12/14 |
1 |
3-41277991-G-T |
c.1954+1G>T |
- |
IntronicSNV |
- |
12/14 |
1 |
3-41277992-T-A |
c.1954+2T>A |
- |
IntronicSNV |
- |
12/14 |
1 |
3-41277992-T-C |
c.1954+2T>C |
- |
IntronicSNV |
- |
12/14 |
1 |
3-41278019-GC-G |
c.1954+29del |
- |
IntronicDeletion |
- |
12/14 |
1 |
3-41278032-T-C |
c.1954+42T>C |
- |
IntronicSNV |
- |
12/14 |
1 |
3-41278079-C-T |
c.1955C>T |
p.A652V |
Missense |
13/15 |
- |
8 |
3-41278080-G-A |
c.1956G>A |
p.A652= |
Synonymous |
13/15 |
- |
9 |
3-41278080-G-C |
c.1956G>C |
p.A652= |
Synonymous |
13/15 |
- |
4 |
3-41278080-G-T |
c.1956G>T |
p.A652= |
Synonymous |
13/15 |
- |
4 |
3-41278081-A-G |
c.1957A>G |
p.T653A |
Missense |
13/15 |
- |
1 |
3-41278082-C-A |
c.1958C>A |
p.T653K |
Missense |
13/15 |
- |
6 |
3-41278082-CA-TG |
c.1958_1959inv |
p.T653M |
Missense |
13/15 |
- |
1 |
3-41278082-C-G |
c.1958C>G |
p.T653R |
Missense |
13/15 |
- |
2 |
3-41278083-A-C |
c.1959A>C |
p.T653= |
Synonymous |
13/15 |
- |
2 |
3-41278083-A-G |
c.1959A>G |
p.T653= |
Synonymous |
13/15 |
- |
2 |
3-41278083-A-T |
c.1959A>T |
p.T653= |
Synonymous |
13/15 |
- |
1 |
3-41278084-TAT-GAG |
c.1960_1962delinsGAG |
p.Y654E |
Missense |
13/15 |
- |
12 |
3-41278084-T-G |
c.1960T>G |
p.Y654D |
Missense |
13/15 |
- |
1 |
3-41278085-A-G |
c.1961A>G |
p.Y654C |
Missense |
13/15 |
- |
1 |
3-41278085-A-T |
c.1961A>T |
p.Y654F |
Missense |
13/15 |
- |
16 |
3-41278086-T-A |
c.1962T>A |
p.Y654* |
Nonsense |
13/15 |
- |
2 |
3-41278086-T-G |
c.1962T>G |
p.Y654* |
Nonsense |
13/15 |
- |
4 |
3-41278088-C-A |
c.1964C>A |
p.A655E |
Missense |
13/15 |
- |
2 |
3-41278090-G-A |
c.1966G>A |
p.A656T |
Missense |
13/15 |
- |
1 |
3-41278091-C-T |
c.1967C>T |
p.A656V |
Missense |
13/15 |
- |
2 |
3-41278092-T-A |
c.1968T>A |
p.A656= |
Synonymous |
13/15 |
- |
1 |
3-41278092-T-C |
c.1968T>C |
p.A656= |
Synonymous |
13/15 |
- |
1 |
3-41278092-T-G |
c.1968T>G |
p.A656= |
Synonymous |
13/15 |
- |
1 |
3-41278093-G-A |
c.1969G>A |
p.A657T |
Missense |
13/15 |
- |
3 |
3-41278093-G-C |
c.1969G>C |
p.A657P |
Missense |
13/15 |
- |
1 |
3-41278094-C-T |
c.1970C>T |
p.A657V |
Missense |
13/15 |
- |
1 |
3-41278096-G-A |
c.1972G>A |
p.V658I |
Missense |
13/15 |
- |
1 |
3-41278096-G-T |
c.1972G>T |
p.V658F |
Missense |
13/15 |
- |
2 |
3-41278097-T-C |
c.1973T>C |
p.V658A |
Missense |
13/15 |
- |
1 |
3-41278099-T-C |
c.1975T>C |
p.L659= |
Synonymous |
13/15 |
- |
1 |
3-41278101-G-A |
c.1977G>A |
p.L659= |
Synonymous |
13/15 |
- |
1 |
3-41278100-T-C |
c.1976T>C |
p.L659S |
Missense |
13/15 |
- |
1 |
3-41278102-TT-GC |
c.1978_1979delinsGC |
p.F660A |
Missense |
13/15 |
- |
2 |
3-41278103-T-C |
c.1979T>C |
p.F660S |
Missense |
13/15 |
- |
3 |
3-41278105-C-A |
c.1981C>A |
p.R661= |
Synonymous |
13/15 |
- |
3 |
3-41278105-C-G |
c.1981C>G |
p.R661G |
Missense |
13/15 |
- |
3 |
3-41278105-CGA-TGG |
c.1981_1983delinsTGG |
p.R661W |
Missense |
13/15 |
- |
1 |
3-41278105-CGA-TGT |
c.1981_1983delinsTGT |
p.R661C |
Missense |
13/15 |
- |
1 |
3-41278105-CG-GC |
c.1981_1982delinsGC |
p.R661A |
Missense |
13/15 |
- |
2 |
3-41278105-C-T |
c.1981C>T |
p.R661* |
Nonsense |
13/15 |
- |
12 |
3-41278106-G-A |
c.1982G>A |
p.R661Q |
Missense |
13/15 |
- |
17 |
3-41278106-GA-AT |
c.1982_1983delinsAT |
p.R661H |
Missense |
13/15 |
- |
2 |
3-41278106-G-C |
c.1982G>C |
p.R661P |
Missense |
13/15 |
- |
1 |
3-41278106-G-T |
c.1982G>T |
p.R661L |
Missense |
13/15 |
- |
5 |
3-41278106-G-GA |
c.1984dup |
p.M662Nfs*3 |
Frameshift |
13/15 |
- |
1 |
3-41278108-A-G |
c.1984A>G |
p.M662V |
Missense |
13/15 |
- |
1 |
3-41278110-G-A |
c.1986G>A |
p.M662I |
Missense |
13/15 |
- |
2 |
3-41278110-G-C |
c.1986G>C |
p.M662I |
Missense |
13/15 |
- |
2 |
3-41278110-G-T |
c.1986G>T |
p.M662I |
Missense |
13/15 |
- |
2 |
3-41278112-CT-AA |
c.1988_1989delinsAA |
p.S663* |
Nonsense |
13/15 |
- |
1 |
3-41278114-G-A |
c.1990G>A |
p.E664K |
Missense |
13/15 |
- |
4 |
3-41278114-G-C |
c.1990G>C |
p.E664Q |
Missense |
13/15 |
- |
1 |
3-41278115-A-G |
c.1991A>G |
p.E664G |
Missense |
13/15 |
- |
2 |
3-41278116-G-C |
c.1992G>C |
p.E664D |
Missense |
13/15 |
- |
1 |
3-41278116-G-T |
c.1992G>T |
p.E664D |
Missense |
13/15 |
- |
1 |
3-41278117-G-A |
c.1993G>A |
p.D665N |
Missense |
13/15 |
- |
1 |
3-41278117-GAC-TAA |
c.1993_1995delinsTAA |
p.D665* |
Nonsense |
13/15 |
- |
1 |
3-41278119-C-A |
c.1995C>A |
p.D665E |
Missense |
13/15 |
- |
5 |
3-41278119-C-G |
c.1995C>G |
p.D665E |
Missense |
13/15 |
- |
2 |
3-41278119-C-T |
c.1995C>T |
p.D665= |
Synonymous |
13/15 |
- |
1 |
3-41278120-A-G |
c.1996A>G |
p.K666E |
Missense |
13/15 |
- |
2 |
3-41278119-CA-C |
c.1997del |
p.K666Sfs*13 |
Frameshift |
13/15 |
- |
1 |
3-41278121-A-G |
c.1997A>G |
p.K666R |
Missense |
13/15 |
- |
4 |
3-41278122-G-A |
c.1998G>A |
p.K666= |
Synonymous |
13/15 |
- |
1 |
3-41278125-CA-C |
c.2001del |
p.Q668Kfs*11 |
Frameshift |
13/15 |
- |
1 |
3-41278127-A-G |
c.2003A>G |
p.Q668R |
Missense |
13/15 |
- |
1 |
3-41278129-G-A |
c.2005G>A |
p.D669N |
Missense |
13/15 |
- |
1 |
3-41278129-G-T |
c.2005G>T |
p.D669Y |
Missense |
13/15 |
- |
1 |
3-41278130-A-T |
c.2006A>T |
p.D669V |
Missense |
13/15 |
- |
1 |
3-41278132-TA-CC |
c.2008_2009delinsCC |
p.Y670P |
Missense |
13/15 |
- |
1 |
3-41278132-TAC-GAG |
c.2008_2010delinsGAG |
p.Y670E |
Missense |
13/15 |
- |
1 |
3-41278133-A-T |
c.2009A>T |
p.Y670F |
Missense |
13/15 |
- |
1 |
3-41278134-AC-A |
c.2010del |
p.Y670* |
Frameshift |
13/15 |
- |
1 |
3-41278134-C-A |
c.2010C>A |
p.Y670* |
Nonsense |
13/15 |
- |
4 |
3-41278134-C-G |
c.2010C>G |
p.Y670* |
Nonsense |
13/15 |
- |
3 |
3-41278136-A-G |
c.2012A>G |
p.K671R |
Missense |
13/15 |
- |
1 |
3-41278137-G-A |
c.2013G>A |
p.K671= |
Synonymous |
13/15 |
- |
2 |
3-41278137-G-T |
c.2013G>T |
p.K671N |
Missense |
13/15 |
- |
1 |
3-41278141-CGG-TGT |
c.2017_2019delinsTGT |
p.R673C |
Missense |
13/15 |
- |
1 |
3-41278141-CG-TA |
c.2017_2018delinsTA |
p.R673* |
Nonsense |
13/15 |
- |
1 |
3-41278141-C-T |
c.2017C>T |
p.R673W |
Missense |
13/15 |
- |
4 |
3-41278142-G-A |
c.2018G>A |
p.R673Q |
Missense |
13/15 |
- |
3 |
3-41278142-G-T |
c.2018G>T |
p.R673L |
Missense |
13/15 |
- |
1 |
3-41278143-GGC-G |
c.2019_2020del |
p.L674Ffs*3 |
Frameshift |
13/15 |
- |
1 |
3-41278144-C-A |
c.2020C>A |
p.L674I |
Missense |
13/15 |
- |
1 |
3-41278147-TCA-GAC |
c.2023_2025delinsGAC |
p.S675D |
Missense |
13/15 |
- |
3 |
3-41278147-T-G |
c.2023T>G |
p.S675A |
Missense |
13/15 |
- |
9 |
3-41278148-C-A |
c.2024C>A |
p.S675* |
Nonsense |
13/15 |
- |
1 |
3-41278148-C-G |
c.2024C>G |
p.S675* |
Nonsense |
13/15 |
- |
1 |
3-41278148-C-T |
c.2024C>T |
p.S675L |
Missense |
13/15 |
- |
1 |
3-41278149-A-C |
c.2025A>C |
p.S675= |
Synonymous |
13/15 |
- |
1 |
3-41278149-A-G |
c.2025A>G |
p.S675= |
Synonymous |
13/15 |
- |
1 |
3-41278149-A-T |
c.2025A>T |
p.S675= |
Synonymous |
13/15 |
- |
1 |
3-41278150-G-C |
c.2026G>C |
p.V676L |
Missense |
13/15 |
- |
1 |
3-41278155-G-C |
c.2031G>C |
p.E677D |
Missense |
13/15 |
- |
1 |
3-41278155-G-T |
c.2031G>T |
p.E677D |
Missense |
13/15 |
- |
1 |
3-41278156-C-T |
c.2032C>T |
p.L678= |
Synonymous |
13/15 |
- |
1 |
3-41278159-A-T |
c.2035A>T |
p.T679S |
Missense |
13/15 |
- |
1 |
3-41278160-C-T |
c.2036C>T |
p.T679I |
Missense |
13/15 |
- |
2 |
3-41278161-C-CT |
c.2037_2038insT |
p.S680* |
Nonsense |
13/15 |
- |
1 |
3-41278161-C-T |
c.2037C>T |
p.T679= |
Synonymous |
13/15 |
- |
1 |
3-41278162-AGC-TGA |
c.2038_2040delinsTGA |
p.S680* |
Nonsense |
13/15 |
- |
1 |
3-41278163-G-A |
c.2039G>A |
p.S680N |
Missense |
13/15 |
- |
1 |
3-41278165-TC-CT |
c.2041_2042delinsCT |
p.S681L |
Missense |
13/15 |
- |
1 |
3-41278165-TC-GG |
c.2041_2042delinsGG |
p.S681G |
Missense |
13/15 |
- |
1 |
3-41278166-C-T |
c.2042C>T |
p.S681F |
Missense |
13/15 |
- |
8 |
3-41278166-CT-AA |
c.2042_2043delinsAA |
p.S681* |
Nonsense |
13/15 |
- |
1 |
3-41278168-C-G |
c.2044C>G |
p.L682V |
Missense |
13/15 |
- |
1 |
3-41278163-GCT-G |
c.2046_2047del |
p.F683Qfs*9 |
Frameshift |
13/15 |
- |
1 |
3-41278170-C-A |
c.2046C>A |
p.L682= |
Synonymous |
13/15 |
- |
1 |
3-41278170-C-G |
c.2046C>G |
p.L682= |
Synonymous |
13/15 |
- |
1 |
3-41278170-C-T |
c.2046C>T |
p.L682= |
Synonymous |
13/15 |
- |
1 |
3-41278171-CTT-C |
c.2047_2048del |
p.F683Qfs*9 |
Frameshift |
13/15 |
- |
1 |
3-41278171-T-C |
c.2047T>C |
p.F683L |
Missense |
13/15 |
- |
2 |
3-41278173-C-A |
c.2049C>A |
p.F683L |
Missense |
13/15 |
- |
2 |
3-41278173-C-G |
c.2049C>G |
p.F683L |
Missense |
13/15 |
- |
2 |
3-41278172-T-A |
c.2048T>A |
p.F683Y |
Missense |
13/15 |
- |
6 |
3-41278174-AGA-TGT |
c.2050_2052delinsTGT |
p.R684C |
Missense |
13/15 |
- |
1 |
3-41278174-AG-CA |
c.2050_2051delinsCA |
p.R684Q |
Missense |
13/15 |
- |
1 |
3-41278175-G-A |
c.2051G>A |
p.R684K |
Missense |
13/15 |
- |
2 |
3-41278175-G-C |
c.2051G>C |
p.R684T |
Missense |
13/15 |
- |
4 |
3-41278175-G-T |
c.2051G>T |
p.R684I |
Missense |
13/15 |
- |
1 |
3-41278176-A-C |
c.2052A>C |
p.R684S |
Missense |
13/15 |
- |
1 |
3-41278176-A-T |
c.2052A>T |
p.R684S |
Missense |
13/15 |
- |
1 |
3-41278177-A-G |
c.2053A>G |
p.T685A |
Missense |
13/15 |
- |
1 |
3-41278178-C-A |
c.2054C>A |
p.T685K |
Missense |
13/15 |
- |
1 |
3-41278180-G-A |
c.2056G>A |
p.E686K |
Missense |
13/15 |
- |
1 |
3-41278180-G-C |
c.2056G>C |
p.E686Q |
Missense |
13/15 |
- |
1 |
3-41278183-C-T |
c.2059C>T |
p.P687S |
Missense |
13/15 |
- |
5 |
3-41278184-C-T |
c.2060C>T |
p.P687L |
Missense |
13/15 |
- |
9 |
3-41278186-A-G |
c.2062A>G |
p.M688V |
Missense |
13/15 |
- |
4 |
3-41278187-T-C |
c.2063T>C |
p.M688T |
Missense |
13/15 |
- |
6 |
3-41278189-G-A |
c.2065G>A |
p.A689T |
Missense |
13/15 |
- |
3 |
3-41278189-GC-TG |
c.2065_2066delinsTG |
p.A689C |
Missense |
13/15 |
- |
1 |
3-41278189-G-T |
c.2065G>T |
p.A689S |
Missense |
13/15 |
- |
1 |
3-41278192-T-C |
c.2068T>C |
p.W690R |
Missense |
13/15 |
- |
1 |
3-41278194-G-T |
c.2070G>T |
p.W690C |
Missense |
13/15 |
- |
1 |
3-41278195-A-G |
c.2071A>G |
p.N691D |
Missense |
13/15 |
- |
1 |
3-41278195-A-T |
c.2071A>T |
p.N691Y |
Missense |
13/15 |
- |
1 |
3-41278196-A-C |
c.2072A>C |
p.N691T |
Missense |
13/15 |
- |
1 |
3-41278197-T-TCC |
c.2073_2074insCC |
p.E692Pfs*44 |
Frameshift |
13/15 |
- |
1 |
3-41278198-G-C |
c.2074G>C |
p.E692Q |
Missense |
13/15 |
- |
1 |
3-41278199-A-G |
c.2075A>G |
p.E692G |
Missense |
13/15 |
- |
1 |
3-41278200-G-C |
c.2076G>C |
p.E692D |
Missense |
13/15 |
- |
1 |
3-41278202-T-C |
c.2076+2T>C |
- |
IntronicSNV |
- |
13/14 |
4 |
3-41278364-A-G |
c.2076+164A>G |
- |
IntronicSNV |
- |
13/14 |
1 |
3-41279440-A-G |
c.2077-67A>G |
- |
IntronicSNV |
- |
13/14 |
37 |
3-41279507-AC-GA |
c.2077_2078delinsGA |
p.T693D |
Missense |
14/15 |
- |
1 |
3-41279507-AC-GG |
c.2077_2078delinsGG |
p.T693G |
Missense |
14/15 |
- |
1 |
3-41279507-A-G |
c.2077A>G |
p.T693A |
Missense |
14/15 |
- |
1 |
3-41279510-G-A |
c.2080G>A |
p.A694T |
Missense |
14/15 |
- |
2 |
3-41279510-G-C |
c.2080G>C |
p.A694P |
Missense |
14/15 |
- |
1 |
3-41279511-C-T |
c.2081C>T |
p.A694V |
Missense |
14/15 |
- |
2 |
3-41279513-G-T |
c.2083G>T |
p.D695Y |
Missense |
14/15 |
- |
1 |
3-41279516-CTT-TAA |
c.2086_2088delinsTAA |
p.L696* |
Nonsense |
14/15 |
- |
1 |
3-41279517-T-C |
c.2087T>C |
p.L696P |
Missense |
14/15 |
- |
1 |
3-41279519-G-A |
c.2089G>A |
p.G697R |
Missense |
14/15 |
- |
2 |
3-41279519-G-C |
c.2089G>C |
p.G697R |
Missense |
14/15 |
- |
2 |
3-41279519-GGA-AGC |
c.2089_2091delinsAGC |
p.G697S |
Missense |
14/15 |
- |
1 |
3-41279520-G-A |
c.2090G>A |
p.G697E |
Missense |
14/15 |
- |
1 |
3-41279521-A-G |
c.2091A>G |
p.G697= |
Synonymous |
14/15 |
- |
1 |
3-41279523-T-A |
c.2093T>A |
p.L698H |
Missense |
14/15 |
- |
1 |
3-41279523-T-G |
c.2093T>G |
p.L698R |
Missense |
14/15 |
- |
1 |
3-41279524-T-TCC |
c.2094_2095insCC |
p.D699Pfs*37 |
Frameshift |
14/15 |
- |
3 |
3-41279525-G-A |
c.2095G>A |
p.D699N |
Missense |
14/15 |
- |
3 |
3-41279525-G-C |
c.2095G>C |
p.D699H |
Missense |
14/15 |
- |
6 |
3-41279526-A-T |
c.2096A>T |
p.D699V |
Missense |
14/15 |
- |
1 |
3-41279527-T-TA |
c.2098dup |
p.I700Nfs*14 |
Frameshift |
14/15 |
- |
1 |
3-41279532-G-A |
c.2102G>A |
p.G701D |
Missense |
14/15 |
- |
1 |
3-41279533-T-C |
c.2103T>C |
p.G701= |
Synonymous |
14/15 |
- |
1 |
3-41279535-C-T |
c.2105C>T |
p.A702V |
Missense |
14/15 |
- |
2 |
3-41279537-C-T |
c.2107C>T |
p.Q703* |
Nonsense |
14/15 |
- |
1 |
3-41279538-A-C |
c.2108A>C |
p.Q703P |
Missense |
14/15 |
- |
1 |
3-41279538-A-G |
c.2108A>G |
p.Q703R |
Missense |
14/15 |
- |
2 |
3-41279539-G-C |
c.2109G>C |
p.Q703H |
Missense |
14/15 |
- |
1 |
3-41279539-G-T |
c.2109G>T |
p.Q703H |
Missense |
14/15 |
- |
1 |
3-41279540-G-A |
c.2110G>A |
p.G704R |
Missense |
14/15 |
- |
2 |
3-41279540-G-C |
c.2110G>C |
p.G704R |
Missense |
14/15 |
- |
2 |
3-41279540-GGA-AGC |
c.2110_2112delinsAGC |
p.G704S |
Missense |
14/15 |
- |
1 |
3-41279543-G-A |
c.2113G>A |
p.E705K |
Missense |
14/15 |
- |
3 |
3-41279545-A-C |
c.2115A>C |
p.E705D |
Missense |
14/15 |
- |
2 |
3-41279545-A-T |
c.2115A>T |
p.E705D |
Missense |
14/15 |
- |
1 |
3-41279546-CCC-AAG |
c.2116_2118delinsAAG |
p.P706K |
Missense |
14/15 |
- |
1 |
3-41279546-C-G |
c.2116C>G |
p.P706A |
Missense |
14/15 |
- |
1 |
3-41279545-ACCC-A |
c.2117_2119del |
p.P706del |
InFrameDeletion |
14/15 |
- |
1 |
3-41279547-C-T |
c.2117C>T |
p.P706L |
Missense |
14/15 |
- |
3 |
3-41279545-AC-A |
c.2119del |
p.G708Dfs*27 |
Frameshift |
14/15 |
- |
1 |
3-41279549-C-T |
c.2119C>T |
p.L707F |
Missense |
14/15 |
- |
2 |
3-41279552-G-A |
c.2122G>A |
p.G708R |
Missense |
14/15 |
- |
1 |
3-41279552-GG-AA |
c.2122_2123delinsAA |
p.G708K |
Missense |
14/15 |
- |
1 |
3-41279553-G-A |
c.2123G>A |
p.G708E |
Missense |
14/15 |
- |
1 |
3-41279553-G-T |
c.2123G>T |
p.G708V |
Missense |
14/15 |
- |
3 |
3-41279555-TAT-GAG |
c.2125_2127delinsGAG |
p.Y709E |
Missense |
14/15 |
- |
1 |
3-41279556-A-G |
c.2126A>G |
p.Y709C |
Missense |
14/15 |
- |
1 |
3-41279558-CGC-TGG |
c.2128_2130delinsTGG |
p.R710W |
Missense |
14/15 |
- |
1 |
3-41279558-C-T |
c.2128C>T |
p.R710C |
Missense |
14/15 |
- |
7 |
3-41279559-G-A |
c.2129G>A |
p.R710H |
Missense |
14/15 |
- |
16 |
3-41279559-GC-AA |
c.2129_2130delinsAA |
p.R710Q |
Missense |
14/15 |
- |
2 |
3-41279559-G-T |
c.2129G>T |
p.R710L |
Missense |
14/15 |
- |
1 |
3-41279564-G-A |
c.2134G>A |
p.D712N |
Missense |
14/15 |
- |
8 |
3-41279564-G-T |
c.2134G>T |
p.D712Y |
Missense |
14/15 |
- |
1 |
3-41279567-G-A |
c.2137G>A |
p.D713N |
Missense |
14/15 |
- |
1 |
3-41279567-G-T |
c.2137G>T |
p.D713Y |
Missense |
14/15 |
- |
1 |
3-41279568-G-T |
c.2137+1G>T |
- |
IntronicSNV |
- |
14/14 |
1 |
3-41279569-T-C |
c.2137+2T>C |
- |
IntronicSNV |
- |
14/14 |
1 |
3-41279572-G-T |
c.2137+5G>T |
- |
IntronicSNV |
- |
14/14 |
1 |
3-41279642-G-A |
c.2137+75G>A |
- |
IntronicSNV |
- |
14/14 |
1 |
3-41279699-T-A |
c.2137+132T>A |
- |
IntronicSNV |
- |
14/14 |
1 |
3-41279700-T-A |
c.2137+133T>A |
- |
IntronicSNV |
- |
14/14 |
1 |
3-41279782-C-G |
c.2137+215C>G |
- |
IntronicSNV |
- |
14/14 |
1 |
3-41280033-A-G |
c.2137+466A>G |
- |
IntronicSNV |
- |
14/14 |
6 |
3-41280625-A-G |
c.2138A>G |
p.D713G |
Missense |
15/15 |
- |
1 |
3-41280627-C-T |
c.2140C>T |
p.P714S |
Missense |
15/15 |
- |
3 |
3-41280628-C-G |
c.2141C>G |
p.P714R |
Missense |
15/15 |
- |
6 |
3-41280628-C-T |
c.2141C>T |
p.P714L |
Missense |
15/15 |
- |
9 |
3-41280629-T-A |
c.2142T>A |
p.P714= |
Synonymous |
15/15 |
- |
1 |
3-41280629-T-C |
c.2142T>C |
p.P714= |
Synonymous |
15/15 |
- |
1 |
3-41280629-T-G |
c.2142T>G |
p.P714= |
Synonymous |
15/15 |
- |
1 |
3-41280630-AG-GA |
c.2143_2144delinsGA |
p.S715D |
Missense |
15/15 |
- |
1 |
3-41280630-AG-GC |
c.2143_2144delinsGC |
p.S715A |
Missense |
15/15 |
- |
3 |
3-41280631-G-T |
c.2144G>T |
p.S715I |
Missense |
15/15 |
- |
1 |
3-41280630-A-C |
c.2143A>C |
p.S715R |
Missense |
15/15 |
- |
1 |
3-41280632-C-A |
c.2145C>A |
p.S715R |
Missense |
15/15 |
- |
2 |
3-41280632-C-G |
c.2145C>G |
p.S715R |
Missense |
15/15 |
- |
1 |
3-41280632-C-T |
c.2145C>T |
p.S715= |
Synonymous |
15/15 |
- |
1 |
3-41280634-A-G |
c.2147A>G |
p.Y716C |
Missense |
15/15 |
- |
7 |
3-41280636-C-G |
c.2149C>G |
p.R717G |
Missense |
15/15 |
- |
1 |
3-41280636-C-T |
c.2149C>T |
p.R717C |
Missense |
15/15 |
- |
8 |
3-41280637-G-A |
c.2150G>A |
p.R717H |
Missense |
15/15 |
- |
5 |
3-41280637-G-T |
c.2150G>T |
p.R717L |
Missense |
15/15 |
- |
1 |
3-41280637-GT-AA |
c.2150_2151delinsAA |
p.R717Q |
Missense |
15/15 |
- |
1 |
3-41280637-GT-TA |
c.2150_2151delinsTA |
p.R717L |
Missense |
15/15 |
- |
1 |
3-41280638-T-G |
c.2151T>G |
p.R717= |
Synonymous |
15/15 |
- |
2 |
3-41280639-T-G |
c.2152T>G |
p.S718A |
Missense |
15/15 |
- |
1 |
3-41280644-T-G |
c.2157T>G |
p.F719L |
Missense |
15/15 |
- |
2 |
3-41280645-CAC-TAA |
c.2158_2160delinsTAA |
p.H720* |
Nonsense |
15/15 |
- |
2 |
3-41280646-A-C |
c.2159A>C |
p.H720P |
Missense |
15/15 |
- |
3 |
3-41280648-T-C |
c.2161T>C |
p.S721P |
Missense |
15/15 |
- |
1 |
3-41280649-C-A |
c.2162C>A |
p.S721Y |
Missense |
15/15 |
- |
1 |
3-41280649-C-T |
c.2162C>T |
p.S721F |
Missense |
15/15 |
- |
2 |
3-41280651-G-A |
c.2164G>A |
p.G722S |
Missense |
15/15 |
- |
2 |
3-41280654-GGA-AGC |
c.2167_2169delinsAGC |
p.G723S |
Missense |
15/15 |
- |
1 |
3-41280654-GGA-TGG |
c.2167_2169delinsTGG |
p.G723W |
Missense |
15/15 |
- |
1 |
3-41280655-GA-AC |
c.2168_2169delinsAC |
p.G723D |
Missense |
15/15 |
- |
1 |
3-41280657-T-C |
c.2170T>C |
p.Y724H |
Missense |
15/15 |
- |
3 |
3-41280658-A-C |
c.2171A>C |
p.Y724S |
Missense |
15/15 |
- |
2 |
3-41280658-A-G |
c.2171A>G |
p.Y724C |
Missense |
15/15 |
- |
2 |
3-41280659-T-A |
c.2172T>A |
p.Y724* |
Nonsense |
15/15 |
- |
2 |
3-41280659-T-G |
c.2172T>G |
p.Y724* |
Nonsense |
15/15 |
- |
4 |
3-41280660-GG-AC |
c.2173_2174delinsAC |
p.G725T |
Missense |
15/15 |
- |
1 |
3-41280661-G-A |
c.2174G>A |
p.G725D |
Missense |
15/15 |
- |
1 |
3-41280661-G-C |
c.2174G>C |
p.G725A |
Missense |
15/15 |
- |
1 |
3-41280661-G-T |
c.2174G>T |
p.G725V |
Missense |
15/15 |
- |
1 |
3-41280662-C-T |
c.2175C>T |
p.G725= |
Synonymous |
15/15 |
- |
1 |
3-41280665-G-T |
c.2178G>T |
p.Q726H |
Missense |
15/15 |
- |
1 |
3-41280666-G-C |
c.2179G>C |
p.D727H |
Missense |
15/15 |
- |
2 |
3-41280668-T-A |
c.2181T>A |
p.D727E |
Missense |
15/15 |
- |
1 |
3-41280668-T-G |
c.2181T>G |
p.D727E |
Missense |
15/15 |
- |
1 |
3-41280669-G-A |
c.2182G>A |
p.A728T |
Missense |
15/15 |
- |
2 |
3-41280669-G-C |
c.2182G>C |
p.A728P |
Missense |
15/15 |
- |
1 |
3-41280671-C-A |
c.2184C>A |
p.A728= |
Synonymous |
15/15 |
- |
1 |
3-41280671-C-G |
c.2184C>G |
p.A728= |
Synonymous |
15/15 |
- |
1 |
3-41280671-C-T |
c.2184C>T |
p.A728= |
Synonymous |
15/15 |
- |
3 |
3-41280673-T-C |
c.2186T>C |
p.L729S |
Missense |
15/15 |
- |
1 |
3-41280674-G-C |
c.2187G>C |
p.L729F |
Missense |
15/15 |
- |
2 |
3-41280674-G-T |
c.2187G>T |
p.L729F |
Missense |
15/15 |
- |
1 |
3-41280675-G-A |
c.2188G>A |
p.G730S |
Missense |
15/15 |
- |
7 |
3-41280676-G-A |
c.2189G>A |
p.G730D |
Missense |
15/15 |
- |
2 |
3-41280678-A-G |
c.2191A>G |
p.M731V |
Missense |
15/15 |
- |
1 |
3-41280680-G-T |
c.2193G>T |
p.M731I |
Missense |
15/15 |
- |
2 |
3-41280681-G-C |
c.2194G>C |
p.D732H |
Missense |
15/15 |
- |
1 |
3-41280683-C-A |
c.2196C>A |
p.D732E |
Missense |
15/15 |
- |
1 |
3-41280683-C-G |
c.2196C>G |
p.D732E |
Missense |
15/15 |
- |
1 |
3-41280683-C-T |
c.2196C>T |
p.D732= |
Synonymous |
15/15 |
- |
1 |
3-41280685-C-A |
c.2198C>A |
p.P733H |
Missense |
15/15 |
- |
1 |
3-41280685-C-G |
c.2198C>G |
p.P733R |
Missense |
15/15 |
- |
2 |
3-41280685-C-T |
c.2198C>T |
p.P733L |
Missense |
15/15 |
- |
1 |
3-41280689-G-A |
c.2202G>A |
p.M734I |
Missense |
15/15 |
- |
1 |
3-41280690-A-C |
c.2203A>C |
p.M735L |
Missense |
15/15 |
- |
2 |
3-41280690-A-T |
c.2203A>T |
p.M735L |
Missense |
15/15 |
- |
2 |
3-41280691-T-A |
c.2204T>A |
p.M735K |
Missense |
15/15 |
- |
1 |
3-41280691-T-C |
c.2204T>C |
p.M735T |
Missense |
15/15 |
- |
1 |
3-41280692-G-C |
c.2205G>C |
p.M735I |
Missense |
15/15 |
- |
1 |
3-41280693-G-A |
c.2206G>A |
p.E736K |
Missense |
15/15 |
- |
5 |
3-41280695-A-G |
c.2208A>G |
p.E736= |
Synonymous |
15/15 |
- |
4 |
3-41280697-A-G |
c.2210A>G |
p.H737R |
Missense |
15/15 |
- |
2 |
3-41280698-T-A |
c.2211T>A |
p.H737Q |
Missense |
15/15 |
- |
1 |
3-41280698-T-G |
c.2211T>G |
p.H737Q |
Missense |
15/15 |
- |
1 |
3-41280699-G-A |
c.2212G>A |
p.E738K |
Missense |
15/15 |
- |
16 |
3-41280699-G-C |
c.2212G>C |
p.E738Q |
Missense |
15/15 |
- |
1 |
3-41280701-AG-A |
c.2214del |
p.M739Wfs*49 |
Frameshift |
15/15 |
- |
1 |
3-41280701-G-T |
c.2214G>T |
p.E738D |
Missense |
15/15 |
- |
1 |
3-41280702-A-G |
c.2215A>G |
p.M739V |
Missense |
15/15 |
- |
1 |
3-41280704-G-A |
c.2217G>A |
p.M739I |
Missense |
15/15 |
- |
11 |
3-41280704-G-C |
c.2217G>C |
p.M739I |
Missense |
15/15 |
- |
5 |
3-41280704-G-T |
c.2217G>T |
p.M739I |
Missense |
15/15 |
- |
5 |
3-41280703-TG-T |
c.2219del |
p.G740Vfs*48 |
Frameshift |
15/15 |
- |
1 |
3-41280707-T-A |
c.2220T>A |
p.G740= |
Synonymous |
15/15 |
- |
1 |
3-41280707-T-C |
c.2220T>C |
p.G740= |
Synonymous |
15/15 |
- |
1 |
3-41280707-T-G |
c.2220T>G |
p.G740= |
Synonymous |
15/15 |
- |
1 |
3-41280710-C-A |
c.2223C>A |
p.G741= |
Synonymous |
15/15 |
- |
2 |
3-41280710-C-T |
c.2223C>T |
p.G741= |
Synonymous |
15/15 |
- |
1 |
3-41280711-C-T |
c.2224C>T |
p.H742Y |
Missense |
15/15 |
- |
3 |
3-41280713-C-T |
c.2226C>T |
p.H742= |
Synonymous |
15/15 |
- |
2 |
3-41280712-AC-A |
c.2227del |
p.H743Tfs*45 |
Frameshift |
15/15 |
- |
1 |
3-41280714-C-T |
c.2227C>T |
p.H743Y |
Missense |
15/15 |
- |
1 |
3-41280717-C-A |
c.2230C>A |
p.P744T |
Missense |
15/15 |
- |
7 |
3-41280717-C-T |
c.2230C>T |
p.P744S |
Missense |
15/15 |
- |
3 |
3-41280718-C-T |
c.2231C>T |
p.P744L |
Missense |
15/15 |
- |
1 |
3-41280720-G-A |
c.2233G>A |
p.G745S |
Missense |
15/15 |
- |
1 |
3-41280721-G-A |
c.2234G>A |
p.G745D |
Missense |
15/15 |
- |
1 |
3-41280721-GT-AG |
c.2234_2235delinsAG |
p.G745E |
Missense |
15/15 |
- |
1 |
3-41280723-G-A |
c.2236G>A |
p.A746T |
Missense |
15/15 |
- |
1 |
3-41280721-GTGC-G |
c.2237_2239del |
p.A746del |
InFrameDeletion |
15/15 |
- |
1 |
3-41280721-GTGCTGACTATCCAGT-G |
c.2237_2251del |
p.A746_V750del |
InFrameDeletion |
15/15 |
- |
3 |
3-41280724-C-T |
c.2237C>T |
p.A746V |
Missense |
15/15 |
- |
2 |
3-41280725-CT-C |
c.2238del |
p.D747Tfs*41 |
Frameshift |
15/15 |
- |
1 |
3-41280735-G-A |
c.2248G>A |
p.V750I |
Missense |
15/15 |
- |
1 |
3-41280736-T-C |
c.2249T>C |
p.V750A |
Missense |
15/15 |
- |
2 |
3-41280738-G-A |
c.2251G>A |
p.D751N |
Missense |
15/15 |
- |
3 |
3-41280741-GGG-TGT |
c.2254_2256delinsTGT |
p.G752C |
Missense |
15/15 |
- |
1 |
3-41280742-G-A |
c.2255G>A |
p.G752E |
Missense |
15/15 |
- |
2 |
3-41280742-G-C |
c.2255G>C |
p.G752A |
Missense |
15/15 |
- |
1 |
3-41280742-G-T |
c.2255G>T |
p.G752V |
Missense |
15/15 |
- |
1 |
3-41280743-G-A |
c.2256G>A |
p.G752= |
Synonymous |
15/15 |
- |
1 |
3-41280744-CTG-TTT |
c.2257_2259delinsTTT |
p.L753F |
Missense |
15/15 |
- |
1 |
3-41280745-T-TG |
c.2259dup |
p.P754Afs*17 |
Frameshift |
15/15 |
- |
1 |
3-41280747-C-T |
c.2260C>T |
p.P754S |
Missense |
15/15 |
- |
1 |
3-41280737-TGATGGGCTGCCAGATCTGGGGCATGCCCAGGACCTCATG-T |
c.2262_2300del |
p.D755_P767del |
InFrameDeletion |
15/15 |
- |
1 |
3-41280749-A-C |
c.2262A>C |
p.P754= |
Synonymous |
15/15 |
- |
1 |
3-41280749-A-G |
c.2262A>G |
p.P754= |
Synonymous |
15/15 |
- |
1 |
3-41280749-A-T |
c.2262A>T |
p.P754= |
Synonymous |
15/15 |
- |
3 |
3-41280750-G-C |
c.2263G>C |
p.D755H |
Missense |
15/15 |
- |
1 |
3-41280750-G-T |
c.2263G>T |
p.D755Y |
Missense |
15/15 |
- |
1 |
3-41280751-A-C |
c.2264A>C |
p.D755A |
Missense |
15/15 |
- |
1 |
3-41280751-A-T |
c.2264A>T |
p.D755V |
Missense |
15/15 |
- |
2 |
3-41280752-T-A |
c.2265T>A |
p.D755E |
Missense |
15/15 |
- |
1 |
3-41280752-T-C |
c.2265T>C |
p.D755= |
Synonymous |
15/15 |
- |
2 |
3-41280753-C-T |
c.2266C>T |
p.L756= |
Synonymous |
15/15 |
- |
1 |
3-41280754-T-C |
c.2267T>C |
p.L756P |
Missense |
15/15 |
- |
2 |
3-41280755-G-A |
c.2268G>A |
p.L756= |
Synonymous |
15/15 |
- |
1 |
3-41280757-G-A |
c.2270G>A |
p.G757E |
Missense |
15/15 |
- |
2 |
3-41280757-G-C |
c.2270G>C |
p.G757A |
Missense |
15/15 |
- |
2 |
3-41280758-G-A |
c.2271G>A |
p.G757= |
Synonymous |
15/15 |
- |
3 |
3-41280758-G-C |
c.2271G>C |
p.G757= |
Synonymous |
15/15 |
- |
1 |
3-41280758-G-T |
c.2271G>T |
p.G757= |
Synonymous |
15/15 |
- |
1 |
3-41280759-C-T |
c.2272C>T |
p.H758Y |
Missense |
15/15 |
- |
1 |
3-41280760-A-C |
c.2273A>C |
p.H758P |
Missense |
15/15 |
- |
1 |
3-41280760-CA-C |
c.2273del |
p.H758Lfs*30 |
Frameshift |
15/15 |
- |
2 |
3-41280761-T-C |
c.2274T>C |
p.H758= |
Synonymous |
15/15 |
- |
3 |
3-41280762-G-A |
c.2275G>A |
p.A759T |
Missense |
15/15 |
- |
3 |
3-41280763-C-T |
c.2276C>T |
p.A759V |
Missense |
15/15 |
- |
1 |
3-41280768-G-C |
c.2281G>C |
p.D761H |
Missense |
15/15 |
- |
3 |
3-41280768-G-T |
c.2281G>T |
p.D761Y |
Missense |
15/15 |
- |
2 |
3-41280769-A-C |
c.2282A>C |
p.D761A |
Missense |
15/15 |
- |
1 |
3-41280769-A-G |
c.2282A>G |
p.D761G |
Missense |
15/15 |
- |
1 |
3-41280771-C-T |
c.2284C>T |
p.L762F |
Missense |
15/15 |
- |
1 |
3-41280772-T-C |
c.2285T>C |
p.L762P |
Missense |
15/15 |
- |
10 |
3-41280776-G-A |
c.2289G>A |
p.M763I |
Missense |
15/15 |
- |
1 |
3-41280776-G-C |
c.2289G>C |
p.M763I |
Missense |
15/15 |
- |
2 |
3-41280776-G-T |
c.2289G>T |
p.M763I |
Missense |
15/15 |
- |
1 |
3-41280778-A-C |
c.2291A>C |
p.D764A |
Missense |
15/15 |
- |
1 |
3-41280779-T-C |
c.2292T>C |
p.D764= |
Synonymous |
15/15 |
- |
1 |
3-41280781-G-T |
c.2294G>T |
p.G765V |
Missense |
15/15 |
- |
1 |
3-41280783-C-A |
c.2296C>A |
p.L766M |
Missense |
15/15 |
- |
1 |
3-41280783-C-T |
c.2296C>T |
p.L766= |
Synonymous |
15/15 |
- |
1 |
3-41280786-C-G |
c.2299C>G |
p.P767A |
Missense |
15/15 |
- |
1 |
3-41280787-C-T |
c.2300C>T |
p.P767L |
Missense |
15/15 |
- |
1 |
3-41280788-T-C |
c.2301T>C |
p.P767= |
Synonymous |
15/15 |
- |
1 |
3-41280789-C-A |
c.2302C>A |
p.P768T |
Missense |
15/15 |
- |
1 |
3-41280790-C-A |
c.2303C>A |
p.P768Q |
Missense |
15/15 |
- |
1 |
3-41280790-C-T |
c.2303C>T |
p.P768L |
Missense |
15/15 |
- |
1 |
3-41280792-G-A |
c.2305G>A |
p.G769S |
Missense |
15/15 |
- |
1 |
3-41280793-G-A |
c.2306G>A |
p.G769D |
Missense |
15/15 |
- |
1 |
3-41280794-T-A |
c.2307T>A |
p.G769= |
Synonymous |
15/15 |
- |
1 |
3-41280796-A-C |
c.2309A>C |
p.D770A |
Missense |
15/15 |
- |
1 |
3-41280797-C-T |
c.2310C>T |
p.D770= |
Synonymous |
15/15 |
- |
2 |
3-41280799-G-A |
c.2312G>A |
p.S771N |
Missense |
15/15 |
- |
1 |
3-41280799-G-T |
c.2312G>T |
p.S771I |
Missense |
15/15 |
- |
1 |
3-41280798-A-C |
c.2311A>C |
p.S771R |
Missense |
15/15 |
- |
1 |
3-41280800-C-A |
c.2313C>A |
p.S771R |
Missense |
15/15 |
- |
1 |
3-41280800-C-G |
c.2313C>G |
p.S771R |
Missense |
15/15 |
- |
1 |
3-41280800-C-T |
c.2313C>T |
p.S771= |
Synonymous |
15/15 |
- |
1 |
3-41280801-A-G |
c.2314A>G |
p.N772D |
Missense |
15/15 |
- |
1 |
3-41280799-GCAAT-G |
c.2315_2318del |
p.N772Sfs*15 |
Frameshift |
15/15 |
- |
1 |
3-41280800-CA-C |
c.2315del |
p.N772Ifs*16 |
Frameshift |
15/15 |
- |
1 |
3-41280802-A-G |
c.2315A>G |
p.N772S |
Missense |
15/15 |
- |
6 |
3-41280803-T-A |
c.2316T>A |
p.N772K |
Missense |
15/15 |
- |
7 |
3-41280803-T-G |
c.2316T>G |
p.N772K |
Missense |
15/15 |
- |
5 |
3-41280803-T-TTACAACCCC |
c.2316_2317insTACAACCCC |
p.N772_Q773insYNP |
InFrameInsertion |
15/15 |
- |
1 |
3-41280804-C-A |
c.2317C>A |
p.Q773K |
Missense |
15/15 |
- |
1 |
3-41280804-C-T |
c.2317C>T |
p.Q773* |
Nonsense |
15/15 |
- |
6 |
3-41280805-A-G |
c.2318A>G |
p.Q773R |
Missense |
15/15 |
- |
1 |
3-41280806-G-C |
c.2319G>C |
p.Q773H |
Missense |
15/15 |
- |
1 |
3-41280806-G-T |
c.2319G>T |
p.Q773H |
Missense |
15/15 |
- |
2 |
3-41280807-C-A |
c.2320C>A |
p.L774M |
Missense |
15/15 |
- |
1 |
3-41280807-C-T |
c.2320C>T |
p.L774= |
Synonymous |
15/15 |
- |
7 |
3-41280810-G-A |
c.2323G>A |
p.A775T |
Missense |
15/15 |
- |
1 |
3-41280811-C-A |
c.2324C>A |
p.A775D |
Missense |
15/15 |
- |
1 |
3-41280811-C-T |
c.2324C>T |
p.A775V |
Missense |
15/15 |
- |
1 |
3-41280813-TG-GC |
c.2326_2327delinsGC |
p.W776A |
Missense |
15/15 |
- |
1 |
3-41280814-G-A |
c.2327G>A |
p.W776* |
Nonsense |
15/15 |
- |
2 |
3-41280815-G-A |
c.2328G>A |
p.W776* |
Nonsense |
15/15 |
- |
3 |
3-41280817-T-C |
c.2330T>C |
p.F777S |
Missense |
15/15 |
- |
9 |
3-41280819-G-A |
c.2332G>A |
p.D778N |
Missense |
15/15 |
- |
3 |
3-41280819-G-C |
c.2332G>C |
p.D778H |
Missense |
15/15 |
- |
1 |
3-41280820-A-C |
c.2333A>C |
p.D778A |
Missense |
15/15 |
- |
1 |
3-41280821-T-A |
c.2334T>A |
p.D778E |
Missense |
15/15 |
- |
1 |
3-41280821-T-G |
c.2334T>G |
p.D778E |
Missense |
15/15 |
- |
1 |
3-41280822-A-C |
c.2335A>C |
p.T779P |
Missense |
15/15 |
- |
1 |
3-41280822-A-G |
c.2335A>G |
p.T779A |
Missense |
15/15 |
- |
1 |
3-41280823-AC-A |
c.2336del |
p.T779Mfs*9 |
Frameshift |
15/15 |
- |
1 |
3-41280824-T-A |
c.2337T>A |
p.T779= |
Synonymous |
15/15 |
- |
1 |
3-41280824-T-C |
c.2337T>C |
p.T779= |
Synonymous |
15/15 |
- |
3 |
3-41280824-T-G |
c.2337T>G |
p.T779= |
Synonymous |
15/15 |
- |
1 |
3-41280825-G-A |
c.2338G>A |
p.D780N |
Missense |
15/15 |
- |
1 |
3-41280826-A-C |
c.2339A>C |
p.D780A |
Missense |
15/15 |
- |
1 |
3-41280827-C-T |
c.2340C>T |
p.D780= |
Synonymous |
15/15 |
- |
21 |
3-41281388-T-G |
c.*555T>G |
- |
3-UTRSNV |
15/15 |
- |
18 |
3-41281413-T-A |
c.*580T>A |
- |
3-UTRSNV |
15/15 |
- |
2 |
3-41281431-T-TA |
c.*600dup |
- |
3-UTRInsertion |
15/15 |
- |
1 |
3-41281477-C-T |
c.*644C>T |
- |
3-UTRSNV |
15/15 |
- |
1 |
3-41281600-C-CTAAT |
c.*769_*772dup |
- |
3-UTRInsertion |
15/15 |
- |
3 |