12-112856826-G-A |
c.-90G>A |
- |
5-UTRSNV |
1/16 |
- |
1 |
12-112856917-T-G |
c.2T>G |
p.M1? |
Missense |
1/16 |
- |
1 |
12-112856919-A-G |
c.4A>G |
p.T2A |
Missense |
1/16 |
- |
3 |
12-112856920-C-T |
c.5C>T |
p.T2I |
Missense |
1/16 |
- |
15 |
12-112856921-A-C |
c.6A>C |
p.T2= |
Synonymous |
1/16 |
- |
2 |
12-112856921-A-G |
c.6A>G |
p.T2= |
Synonymous |
1/16 |
- |
2 |
12-112856921-A-T |
c.6A>T |
p.T2= |
Synonymous |
1/16 |
- |
2 |
12-112856923-C-A |
c.8C>A |
p.S3* |
Nonsense |
1/16 |
- |
1 |
12-112856923-C-T |
c.8C>T |
p.S3L |
Missense |
1/16 |
- |
1 |
12-112856924-G-A |
c.9G>A |
p.S3= |
Synonymous |
1/16 |
- |
2 |
12-112856924-G-C |
c.9G>C |
p.S3= |
Synonymous |
1/16 |
- |
1 |
12-112856924-G-T |
c.9G>T |
p.S3= |
Synonymous |
1/16 |
- |
1 |
12-112856925-C-G |
c.10C>G |
p.R4G |
Missense |
1/16 |
- |
2 |
12-112856925-C-T |
c.10C>T |
p.R4W |
Missense |
1/16 |
- |
1 |
12-112856931-T-G |
c.14+2T>G |
- |
IntronicSNV |
- |
1/15 |
2 |
12-112856950-C-A |
c.14+21C>A |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112856954-G-C |
c.14+25G>C |
- |
IntronicSNV |
- |
1/15 |
2 |
12-112856983-C-A |
c.14+54C>A |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112862524-CT-C |
c.14+5605del |
- |
IntronicDeletion |
- |
1/15 |
1 |
12-112863557-A-G |
c.14+6628A>G |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112865692-C-T |
c.14+8763C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112865800-T-C |
c.14+8871T>C |
- |
IntronicSNV |
- |
1/15 |
3 |
12-112866573-C-T |
c.14+9644C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112867379-A-G |
c.14+10450A>G |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112867379-A-T |
c.14+10450A>T |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112869711-GA-G |
c.14+12790del |
- |
IntronicDeletion |
- |
1/15 |
1 |
12-112871372-A-G |
c.15-12708A>G |
- |
IntronicSNV |
- |
1/15 |
22 |
12-112876736-G-GT |
c.15-7339dup |
- |
IntronicInsertion |
- |
1/15 |
1 |
12-112877304-G-A |
c.15-6776G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112877304-G-C |
c.15-6776G>C |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112877588-T-A |
c.15-6492T>A |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112877599-A-AC |
c.15-6480dup |
- |
IntronicInsertion |
- |
1/15 |
1 |
12-112877600-C-A |
c.15-6480C>A |
- |
IntronicSNV |
- |
1/15 |
2 |
12-112881309-T-C |
c.15-2771T>C |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112881342-G-A |
c.15-2738G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112881996-A-G |
c.15-2084A>G |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112882859-G-A |
c.15-1221G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
12-112883476-G-A |
c.15-604G>A |
- |
IntronicSNV |
- |
1/15 |
5 |
12-112883476-G-C |
c.15-604G>C |
- |
IntronicSNV |
- |
1/15 |
5 |
12-112883476-G-T |
c.15-604G>T |
- |
IntronicSNV |
- |
1/15 |
5 |
12-112884082-G-A |
c.17G>A |
p.W6* |
Nonsense |
2/16 |
- |
1 |
12-112884083-G-A |
c.18G>A |
p.W6* |
Nonsense |
2/16 |
- |
1 |
12-112884084-GTTT-G |
c.19_21del |
p.F7del |
InFrameDeletion |
2/16 |
- |
1 |
12-112884084-T-G |
c.19T>G |
p.F7V |
Missense |
2/16 |
- |
1 |
12-112884087-C-T |
c.22C>T |
p.H8Y |
Missense |
2/16 |
- |
6 |
12-112884089-C-T |
c.24C>T |
p.H8= |
Synonymous |
2/16 |
- |
1 |
12-112884091-C-T |
c.26C>T |
p.P9L |
Missense |
2/16 |
- |
1 |
12-112884093-AA-CC |
c.28_29delinsCC |
p.N10P |
Missense |
2/16 |
- |
1 |
12-112884093-AA-CT |
c.28_29delinsCT |
p.N10L |
Missense |
2/16 |
- |
1 |
12-112884093-AA-GC |
c.28_29delinsGC |
p.N10A |
Missense |
2/16 |
- |
2 |
12-112884093-AA-GG |
c.28_29delinsGG |
p.N10G |
Missense |
2/16 |
- |
1 |
12-112884093-AA-GT |
c.28_29delinsGT |
p.N10V |
Missense |
2/16 |
- |
1 |
12-112884093-AAT-CAA |
c.28_30delinsCAA |
p.N10Q |
Missense |
2/16 |
- |
1 |
12-112884093-AA-TG |
c.28_29delinsTG |
p.N10C |
Missense |
2/16 |
- |
1 |
12-112884093-AAT-GAG |
c.28_30delinsGAG |
p.N10E |
Missense |
2/16 |
- |
1 |
12-112884093-AA-TT |
c.28_29inv |
p.N10F |
Missense |
2/16 |
- |
1 |
12-112884093-AAT-TGG |
c.28_30delinsTGG |
p.N10W |
Missense |
2/16 |
- |
1 |
12-112884093-A-C |
c.28A>C |
p.N10H |
Missense |
2/16 |
- |
1 |
12-112884093-A-G |
c.28A>G |
p.N10D |
Missense |
2/16 |
- |
3 |
12-112884093-A-T |
c.28A>T |
p.N10Y |
Missense |
2/16 |
- |
1 |
12-112884094-A-C |
c.29A>C |
p.N10T |
Missense |
2/16 |
- |
2 |
12-112884094-A-G |
c.29A>G |
p.N10S |
Missense |
2/16 |
- |
2 |
12-112884094-A-T |
c.29A>T |
p.N10I |
Missense |
2/16 |
- |
1 |
12-112884094-AT-GG |
c.29_30delinsGG |
p.N10R |
Missense |
2/16 |
- |
1 |
12-112884094-AT-TG |
c.29_30delinsTG |
p.N10M |
Missense |
2/16 |
- |
1 |
12-112884095-T-A |
c.30T>A |
p.N10K |
Missense |
2/16 |
- |
1 |
12-112884095-T-C |
c.30T>C |
p.N10= |
Synonymous |
2/16 |
- |
1 |
12-112884095-T-G |
c.30T>G |
p.N10K |
Missense |
2/16 |
- |
1 |
12-112884096-A-C |
c.31A>C |
p.I11L |
Missense |
2/16 |
- |
1 |
12-112884096-A-G |
c.31A>G |
p.I11V |
Missense |
2/16 |
- |
4 |
12-112884096-A-T |
c.31A>T |
p.I11F |
Missense |
2/16 |
- |
3 |
12-112884096-AT-CA |
c.31_32delinsCA |
p.I11H |
Missense |
2/16 |
- |
1 |
12-112884096-AT-CC |
c.31_32delinsCC |
p.I11P |
Missense |
2/16 |
- |
1 |
12-112884096-ATC-CAA |
c.31_33delinsCAA |
p.I11Q |
Missense |
2/16 |
- |
1 |
12-112884096-ATC-GAG |
c.31_33delinsGAG |
p.I11E |
Missense |
2/16 |
- |
1 |
12-112884096-ATC-TGG |
c.31_33delinsTGG |
p.I11W |
Missense |
2/16 |
- |
1 |
12-112884096-AT-GA |
c.31_32delinsGA |
p.I11D |
Missense |
2/16 |
- |
1 |
12-112884096-AT-GC |
c.31_32delinsGC |
p.I11A |
Missense |
2/16 |
- |
1 |
12-112884096-AT-GG |
c.31_32delinsGG |
p.I11G |
Missense |
2/16 |
- |
2 |
12-112884096-AT-TA |
c.31_32delinsTA |
p.I11Y |
Missense |
2/16 |
- |
1 |
12-112884096-AT-TG |
c.31_32delinsTG |
p.I11C |
Missense |
2/16 |
- |
1 |
12-112884097-T-A |
c.32T>A |
p.I11N |
Missense |
2/16 |
- |
1 |
12-112884097-T-C |
c.32T>C |
p.I11T |
Missense |
2/16 |
- |
2 |
12-112884097-TC-AG |
c.32_33delinsAG |
p.I11K |
Missense |
2/16 |
- |
1 |
12-112884097-TC-GG |
c.32_33delinsGG |
p.I11R |
Missense |
2/16 |
- |
1 |
12-112884097-T-G |
c.32T>G |
p.I11S |
Missense |
2/16 |
- |
1 |
12-112884098-C-G |
c.33C>G |
p.I11M |
Missense |
2/16 |
- |
5 |
12-112884098-C-T |
c.33C>T |
p.I11= |
Synonymous |
2/16 |
- |
3 |
12-112884099-A-C |
c.34A>C |
p.T12P |
Missense |
2/16 |
- |
1 |
12-112884099-AC-CA |
c.34_35delinsCA |
p.T12H |
Missense |
2/16 |
- |
1 |
12-112884099-AC-CT |
c.34_35delinsCT |
p.T12L |
Missense |
2/16 |
- |
1 |
12-112884099-AC-GA |
c.34_35delinsGA |
p.T12D |
Missense |
2/16 |
- |
1 |
12-112884099-AC-GG |
c.34_35delinsGG |
p.T12G |
Missense |
2/16 |
- |
1 |
12-112884099-AC-GT |
c.34_35inv |
p.T12V |
Missense |
2/16 |
- |
1 |
12-112884099-AC-TA |
c.34_35delinsTA |
p.T12Y |
Missense |
2/16 |
- |
1 |
12-112884099-ACT-CAA |
c.34_36delinsCAA |
p.T12Q |
Missense |
2/16 |
- |
2 |
12-112884099-AC-TG |
c.34_35delinsTG |
p.T12C |
Missense |
2/16 |
- |
1 |
12-112884099-ACT-GAG |
c.34_36delinsGAG |
p.T12E |
Missense |
2/16 |
- |
1 |
12-112884099-AC-TT |
c.34_35delinsTT |
p.T12F |
Missense |
2/16 |
- |
1 |
12-112884099-ACT-TGG |
c.34_36delinsTGG |
p.T12W |
Missense |
2/16 |
- |
1 |
12-112884099-A-G |
c.34A>G |
p.T12A |
Missense |
2/16 |
- |
2 |
12-112884099-A-T |
c.34A>T |
p.T12S |
Missense |
2/16 |
- |
2 |
12-112884100-C-A |
c.35C>A |
p.T12N |
Missense |
2/16 |
- |
1 |
12-112884100-C-G |
c.35C>G |
p.T12S |
Missense |
2/16 |
- |
2 |
12-112884100-C-T |
c.35C>T |
p.T12I |
Missense |
2/16 |
- |
1 |
12-112884100-CT-AG |
c.35_36inv |
p.T12K |
Missense |
2/16 |
- |
1 |
12-112884100-CT-GG |
c.35_36delinsGG |
p.T12R |
Missense |
2/16 |
- |
2 |
12-112884100-CT-TG |
c.35_36delinsTG |
p.T12M |
Missense |
2/16 |
- |
1 |
12-112884101-T-A |
c.36T>A |
p.T12= |
Synonymous |
2/16 |
- |
1 |
12-112884101-T-C |
c.36T>C |
p.T12= |
Synonymous |
2/16 |
- |
1 |
12-112884101-T-G |
c.36T>G |
p.T12= |
Synonymous |
2/16 |
- |
1 |
12-112884102-G-A |
c.37G>A |
p.G13S |
Missense |
2/16 |
- |
2 |
12-112884102-G-C |
c.37G>C |
p.G13R |
Missense |
2/16 |
- |
9 |
12-112884102-GG-AA |
c.37_38delinsAA |
p.G13N |
Missense |
2/16 |
- |
1 |
12-112884102-GG-AC |
c.37_38delinsAC |
p.G13T |
Missense |
2/16 |
- |
1 |
12-112884102-GG-AT |
c.37_38delinsAT |
p.G13I |
Missense |
2/16 |
- |
1 |
12-112884102-GG-CA |
c.37_38delinsCA |
p.G13H |
Missense |
2/16 |
- |
1 |
12-112884102-GG-CC |
c.37_38inv |
p.G13P |
Missense |
2/16 |
- |
2 |
12-112884102-GG-CT |
c.37_38delinsCT |
p.G13L |
Missense |
2/16 |
- |
1 |
12-112884102-GG-TA |
c.37_38delinsTA |
p.G13Y |
Missense |
2/16 |
- |
1 |
12-112884102-GGT-AAG |
c.37_39delinsAAG |
p.G13K |
Missense |
2/16 |
- |
1 |
12-112884102-GGT-ATG |
c.37_39delinsATG |
p.G13M |
Missense |
2/16 |
- |
1 |
12-112884102-GGT-CAA |
c.37_39delinsCAA |
p.G13Q |
Missense |
2/16 |
- |
1 |
12-112884102-GG-TT |
c.37_38delinsTT |
p.G13F |
Missense |
2/16 |
- |
1 |
12-112884102-GGT-TGG |
c.37_39delinsTGG |
p.G13W |
Missense |
2/16 |
- |
1 |
12-112884102-G-T |
c.37G>T |
p.G13C |
Missense |
2/16 |
- |
8 |
12-112884103-G-A |
c.38G>A |
p.G13D |
Missense |
2/16 |
- |
36 |
12-112884103-G-C |
c.38G>C |
p.G13A |
Missense |
2/16 |
- |
2 |
12-112884103-G-T |
c.38G>T |
p.G13V |
Missense |
2/16 |
- |
4 |
12-112884103-GT-AG |
c.38_39delinsAG |
p.G13E |
Missense |
2/16 |
- |
1 |
12-112884105-G-A |
c.40G>A |
p.V14M |
Missense |
2/16 |
- |
1 |
12-112884105-G-C |
c.40G>C |
p.V14L |
Missense |
2/16 |
- |
1 |
12-112884105-G-T |
c.40G>T |
p.V14L |
Missense |
2/16 |
- |
1 |
12-112884105-GT-AA |
c.40_41delinsAA |
p.V14K |
Missense |
2/16 |
- |
1 |
12-112884105-GT-AC |
c.40_41inv |
p.V14T |
Missense |
2/16 |
- |
1 |
12-112884105-GT-AG |
c.40_41delinsAG |
p.V14R |
Missense |
2/16 |
- |
1 |
12-112884105-GT-CA |
c.40_41delinsCA |
p.V14Q |
Missense |
2/16 |
- |
1 |
12-112884105-GT-CC |
c.40_41delinsCC |
p.V14P |
Missense |
2/16 |
- |
1 |
12-112884105-GTG-AAC |
c.40_42delinsAAC |
p.V14N |
Missense |
2/16 |
- |
1 |
12-112884105-GTG-ATC |
c.40_42delinsATC |
p.V14I |
Missense |
2/16 |
- |
10 |
12-112884105-GTG-CAT |
c.40_42delinsCAT |
p.V14H |
Missense |
2/16 |
- |
1 |
12-112884105-GTG-TAT |
c.40_42delinsTAT |
p.V14Y |
Missense |
2/16 |
- |
1 |
12-112884105-GTG-TGT |
c.40_42delinsTGT |
p.V14C |
Missense |
2/16 |
- |
1 |
12-112884105-GTG-TTT |
c.40_42delinsTTT |
p.V14F |
Missense |
2/16 |
- |
1 |
12-112884105-GT-TC |
c.40_41delinsTC |
p.V14S |
Missense |
2/16 |
- |
1 |
12-112884105-GT-TG |
c.40_41delinsTG |
p.V14W |
Missense |
2/16 |
- |
1 |
12-112884106-T-A |
c.41T>A |
p.V14E |
Missense |
2/16 |
- |
1 |
12-112884106-T-C |
c.41T>C |
p.V14A |
Missense |
2/16 |
- |
3 |
12-112884106-T-G |
c.41T>G |
p.V14G |
Missense |
2/16 |
- |
1 |
12-112884106-TG-AC |
c.41_42delinsAC |
p.V14D |
Missense |
2/16 |
- |
1 |
12-112884108-G-A |
c.43G>A |
p.E15K |
Missense |
2/16 |
- |
2 |
12-112884108-GA-AC |
c.43_44delinsAC |
p.E15T |
Missense |
2/16 |
- |
1 |
12-112884108-GA-AG |
c.43_44delinsAG |
p.E15R |
Missense |
2/16 |
- |
1 |
12-112884108-GA-AT |
c.43_44delinsAT |
p.E15M |
Missense |
2/16 |
- |
1 |
12-112884108-GA-CC |
c.43_44delinsCC |
p.E15P |
Missense |
2/16 |
- |
1 |
12-112884108-GA-CT |
c.43_44delinsCT |
p.E15L |
Missense |
2/16 |
- |
2 |
12-112884108-GAG-AAC |
c.43_45delinsAAC |
p.E15N |
Missense |
2/16 |
- |
1 |
12-112884108-GAG-ATC |
c.43_45delinsATC |
p.E15I |
Missense |
2/16 |
- |
1 |
12-112884108-GAG-CAT |
c.43_45delinsCAT |
p.E15H |
Missense |
2/16 |
- |
1 |
12-112884108-GAG-TAT |
c.43_45delinsTAT |
p.E15Y |
Missense |
2/16 |
- |
1 |
12-112884108-GAG-TGT |
c.43_45delinsTGT |
p.E15C |
Missense |
2/16 |
- |
1 |
12-112884108-GAG-TTT |
c.43_45delinsTTT |
p.E15F |
Missense |
2/16 |
- |
1 |
12-112884108-GA-TC |
c.43_44inv |
p.E15S |
Missense |
2/16 |
- |
1 |
12-112884108-GA-TG |
c.43_44delinsTG |
p.E15W |
Missense |
2/16 |
- |
1 |
12-112884108-G-C |
c.43G>C |
p.E15Q |
Missense |
2/16 |
- |
1 |
12-112884106-TGGA-T |
c.44_46del |
p.E15del |
InFrameDeletion |
2/16 |
- |
1 |
12-112884109-A-C |
c.44A>C |
p.E15A |
Missense |
2/16 |
- |
1 |
12-112884109-A-G |
c.44A>G |
p.E15G |
Missense |
2/16 |
- |
2 |
12-112884109-A-T |
c.44A>T |
p.E15V |
Missense |
2/16 |
- |
1 |
12-112884110-G-C |
c.45G>C |
p.E15D |
Missense |
2/16 |
- |
1 |
12-112884110-G-T |
c.45G>T |
p.E15D |
Missense |
2/16 |
- |
1 |
12-112884111-G-A |
c.46G>A |
p.A16T |
Missense |
2/16 |
- |
1 |
12-112884111-G-C |
c.46G>C |
p.A16P |
Missense |
2/16 |
- |
2 |
12-112884111-GC-AA |
c.46_47delinsAA |
p.A16K |
Missense |
2/16 |
- |
1 |
12-112884111-GCA-AAC |
c.46_48delinsAAC |
p.A16N |
Missense |
2/16 |
- |
1 |
12-112884111-GCA-ATG |
c.46_48delinsATG |
p.A16M |
Missense |
2/16 |
- |
1 |
12-112884111-GCA-CAT |
c.46_48delinsCAT |
p.A16H |
Missense |
2/16 |
- |
1 |
12-112884111-GC-AG |
c.46_47delinsAG |
p.A16R |
Missense |
2/16 |
- |
1 |
12-112884111-GC-AT |
c.46_47delinsAT |
p.A16I |
Missense |
2/16 |
- |
1 |
12-112884111-GCA-TAT |
c.46_48delinsTAT |
p.A16Y |
Missense |
2/16 |
- |
3 |
12-112884111-GCA-TGG |
c.46_48delinsTGG |
p.A16W |
Missense |
2/16 |
- |
1 |
12-112884111-GCA-TGT |
c.46_48delinsTGT |
p.A16C |
Missense |
2/16 |
- |
2 |
12-112884111-GCA-TTT |
c.46_48delinsTTT |
p.A16F |
Missense |
2/16 |
- |
1 |
12-112884111-GC-CA |
c.46_47delinsCA |
p.A16Q |
Missense |
2/16 |
- |
1 |
12-112884111-GC-CT |
c.46_47delinsCT |
p.A16L |
Missense |
2/16 |
- |
1 |
12-112884111-GC-TA |
c.46_47delinsTA |
p.A16* |
Nonsense |
2/16 |
- |
1 |
12-112884111-G-T |
c.46G>T |
p.A16S |
Missense |
2/16 |
- |
3 |
12-112884112-C-A |
c.47C>A |
p.A16E |
Missense |
2/16 |
- |
1 |
12-112884112-CA-AC |
c.47_48delinsAC |
p.A16D |
Missense |
2/16 |
- |
3 |
12-112884112-C-G |
c.47C>G |
p.A16G |
Missense |
2/16 |
- |
3 |
12-112884112-C-T |
c.47C>T |
p.A16V |
Missense |
2/16 |
- |
1 |
12-112884113-A-C |
c.48A>C |
p.A16= |
Synonymous |
2/16 |
- |
1 |
12-112884113-A-G |
c.48A>G |
p.A16= |
Synonymous |
2/16 |
- |
2 |
12-112884113-A-T |
c.48A>T |
p.A16= |
Synonymous |
2/16 |
- |
1 |
12-112884112-CAGA-C |
c.49_51del |
p.E17del |
InFrameDeletion |
2/16 |
- |
1 |
12-112884114-G-A |
c.49G>A |
p.E17K |
Missense |
2/16 |
- |
4 |
12-112884114-GAA-AAC |
c.49_51delinsAAC |
p.E17N |
Missense |
2/16 |
- |
1 |
12-112884114-GAA-ATG |
c.49_51delinsATG |
p.E17M |
Missense |
2/16 |
- |
1 |
12-112884114-GA-AC |
c.49_50delinsAC |
p.E17T |
Missense |
2/16 |
- |
1 |
12-112884114-GAA-CAT |
c.49_51delinsCAT |
p.E17H |
Missense |
2/16 |
- |
1 |
12-112884114-GA-AG |
c.49_50delinsAG |
p.E17R |
Missense |
2/16 |
- |
1 |
12-112884114-GA-AT |
c.49_50delinsAT |
p.E17I |
Missense |
2/16 |
- |
1 |
12-112884114-GAA-TAT |
c.49_51delinsTAT |
p.E17Y |
Missense |
2/16 |
- |
1 |
12-112884114-GAA-TGG |
c.49_51delinsTGG |
p.E17W |
Missense |
2/16 |
- |
1 |
12-112884114-GAA-TGT |
c.49_51delinsTGT |
p.E17C |
Missense |
2/16 |
- |
1 |
12-112884114-GAA-TTT |
c.49_51delinsTTT |
p.E17F |
Missense |
2/16 |
- |
1 |
12-112884114-GA-CC |
c.49_50delinsCC |
p.E17P |
Missense |
2/16 |
- |
1 |
12-112884114-GA-CT |
c.49_50delinsCT |
p.E17L |
Missense |
2/16 |
- |
1 |
12-112884114-GA-TC |
c.49_50inv |
p.E17S |
Missense |
2/16 |
- |
1 |
12-112884114-G-C |
c.49G>C |
p.E17Q |
Missense |
2/16 |
- |
1 |
12-112884115-A-C |
c.50A>C |
p.E17A |
Missense |
2/16 |
- |
1 |
12-112884115-A-G |
c.50A>G |
p.E17G |
Missense |
2/16 |
- |
1 |
12-112884115-A-T |
c.50A>T |
p.E17V |
Missense |
2/16 |
- |
1 |
12-112884116-A-C |
c.51A>C |
p.E17D |
Missense |
2/16 |
- |
2 |
12-112884116-A-T |
c.51A>T |
p.E17D |
Missense |
2/16 |
- |
2 |
12-112884117-AA-CC |
c.52_53delinsCC |
p.N18P |
Missense |
2/16 |
- |
1 |
12-112884117-AAC-CAA |
c.52_54delinsCAA |
p.N18Q |
Missense |
2/16 |
- |
1 |
12-112884117-AAC-GAG |
c.52_54delinsGAG |
p.N18E |
Missense |
2/16 |
- |
1 |
12-112884117-AA-CT |
c.52_53delinsCT |
p.N18L |
Missense |
2/16 |
- |
1 |
12-112884117-AAC-TGG |
c.52_54delinsTGG |
p.N18W |
Missense |
2/16 |
- |
1 |
12-112884117-AA-GC |
c.52_53delinsGC |
p.N18A |
Missense |
2/16 |
- |
1 |
12-112884117-AA-GG |
c.52_53delinsGG |
p.N18G |
Missense |
2/16 |
- |
1 |
12-112884117-AA-GT |
c.52_53delinsGT |
p.N18V |
Missense |
2/16 |
- |
1 |
12-112884117-AA-TG |
c.52_53delinsTG |
p.N18C |
Missense |
2/16 |
- |
1 |
12-112884117-AA-TT |
c.52_53inv |
p.N18F |
Missense |
2/16 |
- |
1 |
12-112884117-A-C |
c.52A>C |
p.N18H |
Missense |
2/16 |
- |
1 |
12-112884117-A-G |
c.52A>G |
p.N18D |
Missense |
2/16 |
- |
2 |
12-112884117-A-T |
c.52A>T |
p.N18Y |
Missense |
2/16 |
- |
1 |
12-112884118-A-C |
c.53A>C |
p.N18T |
Missense |
2/16 |
- |
1 |
12-112884118-AC-GG |
c.53_54delinsGG |
p.N18R |
Missense |
2/16 |
- |
1 |
12-112884118-AC-TG |
c.53_54delinsTG |
p.N18M |
Missense |
2/16 |
- |
1 |
12-112884118-A-G |
c.53A>G |
p.N18S |
Missense |
2/16 |
- |
5 |
12-112884118-A-T |
c.53A>T |
p.N18I |
Missense |
2/16 |
- |
1 |
12-112884119-C-A |
c.54C>A |
p.N18K |
Missense |
2/16 |
- |
1 |
12-112884119-C-G |
c.54C>G |
p.N18K |
Missense |
2/16 |
- |
1 |
12-112884120-C-A |
c.55C>A |
p.L19I |
Missense |
2/16 |
- |
1 |
12-112884120-C-G |
c.55C>G |
p.L19V |
Missense |
2/16 |
- |
1 |
12-112884120-CT-AA |
c.55_56delinsAA |
p.L19K |
Missense |
2/16 |
- |
1 |
12-112884120-CTA-AAC |
c.55_57delinsAAC |
p.L19N |
Missense |
2/16 |
- |
1 |
12-112884120-CTA-ATG |
c.55_57delinsATG |
p.L19M |
Missense |
2/16 |
- |
1 |
12-112884120-CT-AC |
c.55_56delinsAC |
p.L19T |
Missense |
2/16 |
- |
1 |
12-112884120-CTA-GAC |
c.55_57delinsGAC |
p.L19D |
Missense |
2/16 |
- |
1 |
12-112884120-CTA-TAT |
c.55_57delinsTAT |
p.L19Y |
Missense |
2/16 |
- |
1 |
12-112884120-CTA-TGG |
c.55_57delinsTGG |
p.L19W |
Missense |
2/16 |
- |
1 |
12-112884120-CTA-TGT |
c.55_57delinsTGT |
p.L19C |
Missense |
2/16 |
- |
1 |
12-112884120-CTA-TTT |
c.55_57delinsTTT |
p.L19F |
Missense |
2/16 |
- |
4 |
12-112884120-CT-GA |
c.55_56delinsGA |
p.L19E |
Missense |
2/16 |
- |
2 |
12-112884120-CT-GC |
c.55_56delinsGC |
p.L19A |
Missense |
2/16 |
- |
2 |
12-112884120-CT-GG |
c.55_56delinsGG |
p.L19G |
Missense |
2/16 |
- |
1 |
12-112884120-CT-TC |
c.55_56delinsTC |
p.L19S |
Missense |
2/16 |
- |
3 |
12-112884121-T-A |
c.56T>A |
p.L19Q |
Missense |
2/16 |
- |
1 |
12-112884121-TA-AT |
c.56_57delinsAT |
p.L19H |
Missense |
2/16 |
- |
1 |
12-112884121-T-C |
c.56T>C |
p.L19P |
Missense |
2/16 |
- |
1 |
12-112884121-T-G |
c.56T>G |
p.L19R |
Missense |
2/16 |
- |
1 |
12-112884123-C-A |
c.58C>A |
p.L20M |
Missense |
2/16 |
- |
1 |
12-112884123-C-G |
c.58C>G |
p.L20V |
Missense |
2/16 |
- |
2 |
12-112884123-C-T |
c.58C>T |
p.L20= |
Synonymous |
2/16 |
- |
2 |
12-112884123-CT-AA |
c.58_59delinsAA |
p.L20K |
Missense |
2/16 |
- |
1 |
12-112884123-CT-AC |
c.58_59delinsAC |
p.L20T |
Missense |
2/16 |
- |
1 |
12-112884123-CT-GA |
c.58_59delinsGA |
p.L20E |
Missense |
2/16 |
- |
1 |
12-112884123-CTG-AAC |
c.58_60delinsAAC |
p.L20N |
Missense |
2/16 |
- |
1 |
12-112884123-CTG-ATC |
c.58_60delinsATC |
p.L20I |
Missense |
2/16 |
- |
1 |
12-112884123-CT-GC |
c.58_59delinsGC |
p.L20A |
Missense |
2/16 |
- |
1 |
12-112884123-CT-GG |
c.58_59delinsGG |
p.L20G |
Missense |
2/16 |
- |
1 |
12-112884123-CTG-GAC |
c.58_60delinsGAC |
p.L20D |
Missense |
2/16 |
- |
1 |
12-112884123-CTG-TAT |
c.58_60delinsTAT |
p.L20Y |
Missense |
2/16 |
- |
1 |
12-112884123-CTG-TGT |
c.58_60delinsTGT |
p.L20C |
Missense |
2/16 |
- |
1 |
12-112884123-CTG-TTT |
c.58_60delinsTTT |
p.L20F |
Missense |
2/16 |
- |
1 |
12-112884123-CT-TC |
c.58_59delinsTC |
p.L20S |
Missense |
2/16 |
- |
1 |
12-112884123-CT-TG |
c.58_59delinsTG |
p.L20W |
Missense |
2/16 |
- |
1 |
12-112884124-T-A |
c.59T>A |
p.L20Q |
Missense |
2/16 |
- |
1 |
12-112884124-T-C |
c.59T>C |
p.L20P |
Missense |
2/16 |
- |
2 |
12-112884124-T-G |
c.59T>G |
p.L20R |
Missense |
2/16 |
- |
1 |
12-112884124-TG-AT |
c.59_60delinsAT |
p.L20H |
Missense |
2/16 |
- |
1 |
12-112884125-G-A |
c.60G>A |
p.L20= |
Synonymous |
2/16 |
- |
1 |
12-112884125-G-C |
c.60G>C |
p.L20= |
Synonymous |
2/16 |
- |
1 |
12-112884125-G-T |
c.60G>T |
p.L20= |
Synonymous |
2/16 |
- |
1 |
12-112884126-T-A |
c.61T>A |
p.L21M |
Missense |
2/16 |
- |
1 |
12-112884126-T-G |
c.61T>G |
p.L21V |
Missense |
2/16 |
- |
1 |
12-112884126-TT-AA |
c.61_62inv |
p.L21K |
Missense |
2/16 |
- |
1 |
12-112884126-TT-AC |
c.61_62delinsAC |
p.L21T |
Missense |
2/16 |
- |
1 |
12-112884126-TT-AG |
c.61_62delinsAG |
p.L21R |
Missense |
2/16 |
- |
1 |
12-112884126-TT-CA |
c.61_62delinsCA |
p.L21Q |
Missense |
2/16 |
- |
1 |
12-112884126-TT-CC |
c.61_62delinsCC |
p.L21P |
Missense |
2/16 |
- |
1 |
12-112884126-TT-GA |
c.61_62delinsGA |
p.L21E |
Missense |
2/16 |
- |
3 |
12-112884126-TTG-AAC |
c.61_63delinsAAC |
p.L21N |
Missense |
2/16 |
- |
1 |
12-112884126-TTG-ATC |
c.61_63delinsATC |
p.L21I |
Missense |
2/16 |
- |
1 |
12-112884126-TT-GC |
c.61_62delinsGC |
p.L21A |
Missense |
2/16 |
- |
2 |
12-112884126-TTG-CAT |
c.61_63delinsCAT |
p.L21H |
Missense |
2/16 |
- |
1 |
12-112884126-TT-GG |
c.61_62delinsGG |
p.L21G |
Missense |
2/16 |
- |
1 |
12-112884126-TTG-GAC |
c.61_63delinsGAC |
p.L21D |
Missense |
2/16 |
- |
1 |
12-112884127-T-C |
c.62T>C |
p.L21S |
Missense |
2/16 |
- |
1 |
12-112884127-T-G |
c.62T>G |
p.L21W |
Missense |
2/16 |
- |
1 |
12-112884127-TG-AT |
c.62_63delinsAT |
p.L21Y |
Missense |
2/16 |
- |
1 |
12-112884127-TG-GT |
c.62_63delinsGT |
p.L21C |
Missense |
2/16 |
- |
1 |
12-112884128-G-C |
c.63G>C |
p.L21F |
Missense |
2/16 |
- |
3 |
12-112884128-G-T |
c.63G>T |
p.L21F |
Missense |
2/16 |
- |
3 |
12-112884129-A-C |
c.64A>C |
p.T22P |
Missense |
2/16 |
- |
1 |
12-112884129-ACA-CAT |
c.64_66delinsCAT |
p.T22H |
Missense |
2/16 |
- |
1 |
12-112884129-ACA-GAC |
c.64_66delinsGAC |
p.T22D |
Missense |
2/16 |
- |
1 |
12-112884129-ACA-TAT |
c.64_66delinsTAT |
p.T22Y |
Missense |
2/16 |
- |
1 |
12-112884129-ACA-TGG |
c.64_66delinsTGG |
p.T22W |
Missense |
2/16 |
- |
1 |
12-112884129-ACA-TGT |
c.64_66inv |
p.T22C |
Missense |
2/16 |
- |
3 |
12-112884129-ACA-TTT |
c.64_66delinsTTT |
p.T22F |
Missense |
2/16 |
- |
1 |
12-112884129-AC-CA |
c.64_65delinsCA |
p.T22Q |
Missense |
2/16 |
- |
1 |
12-112884129-AC-CT |
c.64_65delinsCT |
p.T22L |
Missense |
2/16 |
- |
1 |
12-112884129-AC-GA |
c.64_65delinsGA |
p.T22E |
Missense |
2/16 |
- |
1 |
12-112884129-AC-GG |
c.64_65delinsGG |
p.T22G |
Missense |
2/16 |
- |
1 |
12-112884129-AC-GT |
c.64_65inv |
p.T22V |
Missense |
2/16 |
- |
1 |
12-112884129-A-G |
c.64A>G |
p.T22A |
Missense |
2/16 |
- |
6 |
12-112884129-A-T |
c.64A>T |
p.T22S |
Missense |
2/16 |
- |
2 |
12-112884130-C-A |
c.65C>A |
p.T22K |
Missense |
2/16 |
- |
1 |
12-112884130-CA-AC |
c.65_66delinsAC |
p.T22N |
Missense |
2/16 |
- |
4 |
12-112884130-CA-TG |
c.65_66inv |
p.T22M |
Missense |
2/16 |
- |
1 |
12-112884130-C-G |
c.65C>G |
p.T22R |
Missense |
2/16 |
- |
1 |
12-112884130-C-T |
c.65C>T |
p.T22I |
Missense |
2/16 |
- |
5 |
12-112884132-AGA-GAC |
c.67_69delinsGAC |
p.R23D |
Missense |
2/16 |
- |
1 |
12-112884132-AGA-TGT |
c.67_69delinsTGT |
p.R23C |
Missense |
2/16 |
- |
1 |
12-112884132-AG-GC |
c.67_68delinsGC |
p.R23A |
Missense |
2/16 |
- |
1 |
12-112884132-A-T |
c.67A>T |
p.R23* |
Nonsense |
2/16 |
- |
1 |
12-112884133-G-A |
c.68G>A |
p.R23K |
Missense |
2/16 |
- |
2 |
12-112884133-G-T |
c.68G>T |
p.R23I |
Missense |
2/16 |
- |
1 |
12-112884135-G-A |
c.70G>A |
p.G24R |
Missense |
2/16 |
- |
1 |
12-112884135-G-C |
c.70G>C |
p.G24R |
Missense |
2/16 |
- |
1 |
12-112884135-GG-AA |
c.70_71delinsAA |
p.G24K |
Missense |
2/16 |
- |
1 |
12-112884135-GGA-AAC |
c.70_72delinsAAC |
p.G24N |
Missense |
2/16 |
- |
1 |
12-112884135-GGA-AGC |
c.70_72delinsAGC |
p.G24S |
Missense |
2/16 |
- |
1 |
12-112884135-GGA-ATG |
c.70_72delinsATG |
p.G24M |
Missense |
2/16 |
- |
1 |
12-112884135-GG-AC |
c.70_71delinsAC |
p.G24T |
Missense |
2/16 |
- |
1 |
12-112884135-GGA-CAT |
c.70_72delinsCAT |
p.G24H |
Missense |
2/16 |
- |
1 |
12-112884135-GG-AT |
c.70_71delinsAT |
p.G24I |
Missense |
2/16 |
- |
1 |
12-112884135-GGA-TAT |
c.70_72delinsTAT |
p.G24Y |
Missense |
2/16 |
- |
1 |
12-112884135-GGA-TGG |
c.70_72delinsTGG |
p.G24W |
Missense |
2/16 |
- |
1 |
12-112884135-GGA-TGT |
c.70_72delinsTGT |
p.G24C |
Missense |
2/16 |
- |
1 |
12-112884135-GGA-TTT |
c.70_72delinsTTT |
p.G24F |
Missense |
2/16 |
- |
1 |
12-112884135-GG-CA |
c.70_71delinsCA |
p.G24Q |
Missense |
2/16 |
- |
1 |
12-112884135-GG-CC |
c.70_71inv |
p.G24P |
Missense |
2/16 |
- |
1 |
12-112884135-GG-CT |
c.70_71delinsCT |
p.G24L |
Missense |
2/16 |
- |
1 |
12-112884136-G-A |
c.71G>A |
p.G24E |
Missense |
2/16 |
- |
1 |
12-112884136-GA-AC |
c.71_72delinsAC |
p.G24D |
Missense |
2/16 |
- |
1 |
12-112884136-G-C |
c.71G>C |
p.G24A |
Missense |
2/16 |
- |
2 |
12-112884136-G-T |
c.71G>T |
p.G24V |
Missense |
2/16 |
- |
1 |
12-112884138-G-A |
c.73G>A |
p.V25I |
Missense |
2/16 |
- |
1 |
12-112884138-G-C |
c.73G>C |
p.V25L |
Missense |
2/16 |
- |
2 |
12-112884138-G-T |
c.73G>T |
p.V25F |
Missense |
2/16 |
- |
4 |
12-112884138-GT-AA |
c.73_74delinsAA |
p.V25N |
Missense |
2/16 |
- |
1 |
12-112884138-GT-AC |
c.73_74inv |
p.V25T |
Missense |
2/16 |
- |
1 |
12-112884138-GT-AG |
c.73_74delinsAG |
p.V25S |
Missense |
2/16 |
- |
1 |
12-112884138-GT-CA |
c.73_74delinsCA |
p.V25H |
Missense |
2/16 |
- |
1 |
12-112884138-GT-CC |
c.73_74delinsCC |
p.V25P |
Missense |
2/16 |
- |
1 |
12-112884138-GT-CG |
c.73_74delinsCG |
p.V25R |
Missense |
2/16 |
- |
1 |
12-112884138-GT-TA |
c.73_74delinsTA |
p.V25Y |
Missense |
2/16 |
- |
1 |
12-112884138-GTT-AAG |
c.73_75delinsAAG |
p.V25K |
Missense |
2/16 |
- |
1 |
12-112884138-GTT-ATG |
c.73_75delinsATG |
p.V25M |
Missense |
2/16 |
- |
1 |
12-112884138-GTT-CAA |
c.73_75delinsCAA |
p.V25Q |
Missense |
2/16 |
- |
1 |
12-112884138-GT-TG |
c.73_74delinsTG |
p.V25C |
Missense |
2/16 |
- |
1 |
12-112884138-GTT-TGG |
c.73_75delinsTGG |
p.V25W |
Missense |
2/16 |
- |
1 |
12-112884139-T-A |
c.74T>A |
p.V25D |
Missense |
2/16 |
- |
1 |
12-112884139-T-C |
c.74T>C |
p.V25A |
Missense |
2/16 |
- |
2 |
12-112884139-T-G |
c.74T>G |
p.V25G |
Missense |
2/16 |
- |
1 |
12-112884139-TT-AG |
c.74_75delinsAG |
p.V25E |
Missense |
2/16 |
- |
1 |
12-112884140-T-A |
c.75T>A |
p.V25= |
Synonymous |
2/16 |
- |
2 |
12-112884140-T-C |
c.75T>C |
p.V25= |
Synonymous |
2/16 |
- |
2 |
12-112884140-T-G |
c.75T>G |
p.V25= |
Synonymous |
2/16 |
- |
2 |
12-112884141-G-A |
c.76G>A |
p.D26N |
Missense |
2/16 |
- |
3 |
12-112884141-GA-AC |
c.76_77delinsAC |
p.D26T |
Missense |
2/16 |
- |
1 |
12-112884141-GA-AG |
c.76_77delinsAG |
p.D26S |
Missense |
2/16 |
- |
1 |
12-112884141-GA-AT |
c.76_77delinsAT |
p.D26I |
Missense |
2/16 |
- |
1 |
12-112884141-GA-CC |
c.76_77delinsCC |
p.D26P |
Missense |
2/16 |
- |
1 |
12-112884141-GA-CG |
c.76_77delinsCG |
p.D26R |
Missense |
2/16 |
- |
1 |
12-112884141-GA-CT |
c.76_77delinsCT |
p.D26L |
Missense |
2/16 |
- |
1 |
12-112884141-GAT-AAG |
c.76_78delinsAAG |
p.D26K |
Missense |
2/16 |
- |
1 |
12-112884141-GAT-ATG |
c.76_78delinsATG |
p.D26M |
Missense |
2/16 |
- |
1 |
12-112884141-GAT-CAA |
c.76_78delinsCAA |
p.D26Q |
Missense |
2/16 |
- |
1 |
12-112884141-GA-TG |
c.76_77delinsTG |
p.D26C |
Missense |
2/16 |
- |
1 |
12-112884141-GA-TT |
c.76_77delinsTT |
p.D26F |
Missense |
2/16 |
- |
1 |
12-112884141-GAT-TGG |
c.76_78delinsTGG |
p.D26W |
Missense |
2/16 |
- |
1 |
12-112884141-G-C |
c.76G>C |
p.D26H |
Missense |
2/16 |
- |
1 |
12-112884141-G-T |
c.76G>T |
p.D26Y |
Missense |
2/16 |
- |
2 |
12-112884142-A-C |
c.77A>C |
p.D26A |
Missense |
2/16 |
- |
3 |
12-112884142-A-G |
c.77A>G |
p.D26G |
Missense |
2/16 |
- |
1 |
12-112884142-A-T |
c.77A>T |
p.D26V |
Missense |
2/16 |
- |
2 |
12-112884143-T-A |
c.78T>A |
p.D26E |
Missense |
2/16 |
- |
1 |
12-112884143-T-G |
c.78T>G |
p.D26E |
Missense |
2/16 |
- |
1 |
12-112884144-G-A |
c.79G>A |
p.G27S |
Missense |
2/16 |
- |
1 |
12-112884144-G-C |
c.79G>C |
p.G27R |
Missense |
2/16 |
- |
3 |
12-112884144-GG-AA |
c.79_80delinsAA |
p.G27N |
Missense |
2/16 |
- |
1 |
12-112884144-GG-AC |
c.79_80delinsAC |
p.G27T |
Missense |
2/16 |
- |
1 |
12-112884144-GG-AT |
c.79_80delinsAT |
p.G27I |
Missense |
2/16 |
- |
1 |
12-112884144-GG-CA |
c.79_80delinsCA |
p.G27H |
Missense |
2/16 |
- |
1 |
12-112884144-GGC-AAG |
c.79_81delinsAAG |
p.G27K |
Missense |
2/16 |
- |
1 |
12-112884144-GGC-ATG |
c.79_81delinsATG |
p.G27M |
Missense |
2/16 |
- |
1 |
12-112884144-GG-CC |
c.79_80inv |
p.G27P |
Missense |
2/16 |
- |
1 |
12-112884144-GGC-CAA |
c.79_81delinsCAA |
p.G27Q |
Missense |
2/16 |
- |
1 |
12-112884144-GG-CT |
c.79_80delinsCT |
p.G27L |
Missense |
2/16 |
- |
1 |
12-112884144-GGC-TGG |
c.79_81delinsTGG |
p.G27W |
Missense |
2/16 |
- |
1 |
12-112884144-GG-TA |
c.79_80delinsTA |
p.G27Y |
Missense |
2/16 |
- |
1 |
12-112884144-GG-TT |
c.79_80delinsTT |
p.G27F |
Missense |
2/16 |
- |
1 |
12-112884144-G-T |
c.79G>T |
p.G27C |
Missense |
2/16 |
- |
1 |
12-112884143-TG-T |
c.80del |
p.G27Afs*62 |
Frameshift |
2/16 |
- |
1 |
12-112884145-G-A |
c.80G>A |
p.G27D |
Missense |
2/16 |
- |
5 |
12-112884145-G-C |
c.80G>C |
p.G27A |
Missense |
2/16 |
- |
2 |
12-112884145-GC-AG |
c.80_81delinsAG |
p.G27E |
Missense |
2/16 |
- |
1 |
12-112884145-G-T |
c.80G>T |
p.G27V |
Missense |
2/16 |
- |
1 |
12-112884146-C-CT |
c.81_82insT |
p.S28* |
Nonsense |
2/16 |
- |
1 |
12-112884147-A-G |
c.82A>G |
p.S28G |
Missense |
2/16 |
- |
1 |
12-112884147-AG-CA |
c.82_83delinsCA |
p.S28H |
Missense |
2/16 |
- |
1 |
12-112884147-AG-CC |
c.82_83delinsCC |
p.S28P |
Missense |
2/16 |
- |
1 |
12-112884147-AG-CT |
c.82_83inv |
p.S28L |
Missense |
2/16 |
- |
1 |
12-112884147-AG-GA |
c.82_83delinsGA |
p.S28D |
Missense |
2/16 |
- |
1 |
12-112884147-AG-GC |
c.82_83delinsGC |
p.S28A |
Missense |
2/16 |
- |
1 |
12-112884147-AG-GT |
c.82_83delinsGT |
p.S28V |
Missense |
2/16 |
- |
1 |
12-112884147-AG-TA |
c.82_83delinsTA |
p.S28Y |
Missense |
2/16 |
- |
1 |
12-112884147-AGT-CAA |
c.82_84delinsCAA |
p.S28Q |
Missense |
2/16 |
- |
1 |
12-112884147-AGT-GAG |
c.82_84delinsGAG |
p.S28E |
Missense |
2/16 |
- |
5 |
12-112884147-AG-TT |
c.82_83delinsTT |
p.S28F |
Missense |
2/16 |
- |
1 |
12-112884147-AGT-TGG |
c.82_84delinsTGG |
p.S28W |
Missense |
2/16 |
- |
1 |
12-112884147-A-T |
c.82A>T |
p.S28C |
Missense |
2/16 |
- |
1 |
12-112884148-G-A |
c.83G>A |
p.S28N |
Missense |
2/16 |
- |
2 |
12-112884148-G-C |
c.83G>C |
p.S28T |
Missense |
2/16 |
- |
1 |
12-112884148-G-T |
c.83G>T |
p.S28I |
Missense |
2/16 |
- |
1 |
12-112884148-GT-AG |
c.83_84delinsAG |
p.S28K |
Missense |
2/16 |
- |
1 |
12-112884148-GT-TG |
c.83_84delinsTG |
p.S28M |
Missense |
2/16 |
- |
1 |
12-112884147-A-C |
c.82A>C |
p.S28R |
Missense |
2/16 |
- |
1 |
12-112884149-T-A |
c.84T>A |
p.S28R |
Missense |
2/16 |
- |
1 |
12-112884149-T-G |
c.84T>G |
p.S28R |
Missense |
2/16 |
- |
1 |
12-112884150-T-A |
c.85T>A |
p.F29I |
Missense |
2/16 |
- |
1 |
12-112884150-T-C |
c.85T>C |
p.F29L |
Missense |
2/16 |
- |
1 |
12-112884150-T-G |
c.85T>G |
p.F29V |
Missense |
2/16 |
- |
1 |
12-112884150-TT-AA |
c.85_86inv |
p.F29N |
Missense |
2/16 |
- |
1 |
12-112884150-TT-AC |
c.85_86delinsAC |
p.F29T |
Missense |
2/16 |
- |
1 |
12-112884150-TT-CA |
c.85_86delinsCA |
p.F29H |
Missense |
2/16 |
- |
1 |
12-112884150-TT-CC |
c.85_86delinsCC |
p.F29P |
Missense |
2/16 |
- |
2 |
12-112884150-TT-CG |
c.85_86delinsCG |
p.F29R |
Missense |
2/16 |
- |
1 |
12-112884150-TT-GA |
c.85_86delinsGA |
p.F29D |
Missense |
2/16 |
- |
1 |
12-112884150-TT-GC |
c.85_86delinsGC |
p.F29A |
Missense |
2/16 |
- |
2 |
12-112884150-TT-GG |
c.85_86delinsGG |
p.F29G |
Missense |
2/16 |
- |
1 |
12-112884150-TTT-AAG |
c.85_87delinsAAG |
p.F29K |
Missense |
2/16 |
- |
1 |
12-112884150-TTT-ATG |
c.85_87delinsATG |
p.F29M |
Missense |
2/16 |
- |
1 |
12-112884150-TTT-CAA |
c.85_87delinsCAA |
p.F29Q |
Missense |
2/16 |
- |
1 |
12-112884150-TTT-GAG |
c.85_87delinsGAG |
p.F29E |
Missense |
2/16 |
- |
1 |
12-112884152-T-A |
c.87T>A |
p.F29L |
Missense |
2/16 |
- |
1 |
12-112884152-T-G |
c.87T>G |
p.F29L |
Missense |
2/16 |
- |
1 |
12-112884151-T-A |
c.86T>A |
p.F29Y |
Missense |
2/16 |
- |
1 |
12-112884151-T-C |
c.86T>C |
p.F29S |
Missense |
2/16 |
- |
1 |
12-112884151-T-G |
c.86T>G |
p.F29C |
Missense |
2/16 |
- |
3 |
12-112884151-TT-GG |
c.86_87delinsGG |
p.F29W |
Missense |
2/16 |
- |
2 |
12-112884153-T-A |
c.88T>A |
p.L30M |
Missense |
2/16 |
- |
1 |
12-112884153-T-C |
c.88T>C |
p.L30= |
Synonymous |
2/16 |
- |
1 |
12-112884153-T-G |
c.88T>G |
p.L30V |
Missense |
2/16 |
- |
2 |
12-112884153-TT-AA |
c.88_89inv |
p.L30K |
Missense |
2/16 |
- |
1 |
12-112884153-TT-AC |
c.88_89delinsAC |
p.L30T |
Missense |
2/16 |
- |
1 |
12-112884153-TT-AG |
c.88_89delinsAG |
p.L30R |
Missense |
2/16 |
- |
1 |
12-112884153-TT-CA |
c.88_89delinsCA |
p.L30Q |
Missense |
2/16 |
- |
1 |
12-112884153-TT-CC |
c.88_89delinsCC |
p.L30P |
Missense |
2/16 |
- |
2 |
12-112884153-TT-GA |
c.88_89delinsGA |
p.L30E |
Missense |
2/16 |
- |
2 |
12-112884153-TTG-AAC |
c.88_90delinsAAC |
p.L30N |
Missense |
2/16 |
- |
1 |
12-112884153-TTG-ATC |
c.88_90delinsATC |
p.L30I |
Missense |
2/16 |
- |
1 |
12-112884153-TT-GC |
c.88_89delinsGC |
p.L30A |
Missense |
2/16 |
- |
1 |
12-112884153-TTG-CAT |
c.88_90delinsCAT |
p.L30H |
Missense |
2/16 |
- |
1 |
12-112884153-TT-GG |
c.88_89delinsGG |
p.L30G |
Missense |
2/16 |
- |
1 |
12-112884153-TTG-GAC |
c.88_90delinsGAC |
p.L30D |
Missense |
2/16 |
- |
1 |
12-112884155-G-A |
c.90G>A |
p.L30= |
Synonymous |
2/16 |
- |
1 |
12-112884148-GT-G |
c.89del |
p.L30Wfs*59 |
Frameshift |
2/16 |
- |
3 |
12-112884154-T-C |
c.89T>C |
p.L30S |
Missense |
2/16 |
- |
1 |
12-112884154-T-G |
c.89T>G |
p.L30W |
Missense |
2/16 |
- |
1 |
12-112884154-TG-AT |
c.89_90delinsAT |
p.L30Y |
Missense |
2/16 |
- |
1 |
12-112884154-TG-GT |
c.89_90delinsGT |
p.L30C |
Missense |
2/16 |
- |
1 |
12-112884155-G-C |
c.90G>C |
p.L30F |
Missense |
2/16 |
- |
1 |
12-112884155-G-T |
c.90G>T |
p.L30F |
Missense |
2/16 |
- |
1 |
12-112884156-G-A |
c.91G>A |
p.A31T |
Missense |
2/16 |
- |
3 |
12-112884156-G-C |
c.91G>C |
p.A31P |
Missense |
2/16 |
- |
1 |
12-112884156-GC-AA |
c.91_92delinsAA |
p.A31K |
Missense |
2/16 |
- |
1 |
12-112884156-GCA-AAC |
c.91_93delinsAAC |
p.A31N |
Missense |
2/16 |
- |
1 |
12-112884156-GCA-ATG |
c.91_93delinsATG |
p.A31M |
Missense |
2/16 |
- |
1 |
12-112884156-GCA-CAT |
c.91_93delinsCAT |
p.A31H |
Missense |
2/16 |
- |
1 |
12-112884156-GC-AG |
c.91_92delinsAG |
p.A31R |
Missense |
2/16 |
- |
1 |
12-112884156-GC-AT |
c.91_92delinsAT |
p.A31I |
Missense |
2/16 |
- |
1 |
12-112884156-GCA-TAT |
c.91_93delinsTAT |
p.A31Y |
Missense |
2/16 |
- |
1 |
12-112884156-GCA-TGG |
c.91_93delinsTGG |
p.A31W |
Missense |
2/16 |
- |
1 |
12-112884156-GCA-TGT |
c.91_93delinsTGT |
p.A31C |
Missense |
2/16 |
- |
1 |
12-112884156-GCA-TTT |
c.91_93delinsTTT |
p.A31F |
Missense |
2/16 |
- |
2 |
12-112884156-GC-CA |
c.91_92delinsCA |
p.A31Q |
Missense |
2/16 |
- |
1 |
12-112884156-GC-CT |
c.91_92delinsCT |
p.A31L |
Missense |
2/16 |
- |
2 |
12-112884156-GC-TA |
c.91_92delinsTA |
p.A31* |
Nonsense |
2/16 |
- |
2 |
12-112884156-G-T |
c.91G>T |
p.A31S |
Missense |
2/16 |
- |
2 |
12-112884157-C-A |
c.92C>A |
p.A31E |
Missense |
2/16 |
- |
2 |
12-112884157-CA-AC |
c.92_93delinsAC |
p.A31D |
Missense |
2/16 |
- |
1 |
12-112884157-C-G |
c.92C>G |
p.A31G |
Missense |
2/16 |
- |
3 |
12-112884157-C-T |
c.92C>T |
p.A31V |
Missense |
2/16 |
- |
1 |
12-112884159-AAGG-A |
c.94_96del |
p.R32del |
InFrameDeletion |
2/16 |
- |
1 |
12-112884159-A-G |
c.94A>G |
p.R32G |
Missense |
2/16 |
- |
2 |
12-112884159-AG-CA |
c.94_95delinsCA |
p.R32Q |
Missense |
2/16 |
- |
1 |
12-112884159-AG-CC |
c.94_95delinsCC |
p.R32P |
Missense |
2/16 |
- |
1 |
12-112884159-AG-CT |
c.94_95inv |
p.R32L |
Missense |
2/16 |
- |
2 |
12-112884159-AG-GA |
c.94_95delinsGA |
p.R32E |
Missense |
2/16 |
- |
3 |
12-112884159-AG-GC |
c.94_95delinsGC |
p.R32A |
Missense |
2/16 |
- |
6 |
12-112884159-AGG-CAT |
c.94_96delinsCAT |
p.R32H |
Missense |
2/16 |
- |
1 |
12-112884159-AGG-GAC |
c.94_96delinsGAC |
p.R32D |
Missense |
2/16 |
- |
1 |
12-112884159-AG-GT |
c.94_95delinsGT |
p.R32V |
Missense |
2/16 |
- |
1 |
12-112884159-AGG-TAT |
c.94_96delinsTAT |
p.R32Y |
Missense |
2/16 |
- |
1 |
12-112884159-AGG-TGT |
c.94_96delinsTGT |
p.R32C |
Missense |
2/16 |
- |
1 |
12-112884159-AGG-TTT |
c.94_96delinsTTT |
p.R32F |
Missense |
2/16 |
- |
2 |
12-112884159-A-T |
c.94A>T |
p.R32W |
Missense |
2/16 |
- |
1 |
12-112884160-G-A |
c.95G>A |
p.R32K |
Missense |
2/16 |
- |
3 |
12-112884160-G-C |
c.95G>C |
p.R32T |
Missense |
2/16 |
- |
2 |
12-112884160-GG-AC |
c.95_96delinsAC |
p.R32N |
Missense |
2/16 |
- |
1 |
12-112884160-GG-TC |
c.95_96delinsTC |
p.R32I |
Missense |
2/16 |
- |
1 |
12-112884160-G-T |
c.95G>T |
p.R32M |
Missense |
2/16 |
- |
2 |
12-112884159-A-C |
c.94A>C |
p.R32= |
Synonymous |
2/16 |
- |
1 |
12-112884161-G-A |
c.96G>A |
p.R32= |
Synonymous |
2/16 |
- |
1 |
12-112884161-G-C |
c.96G>C |
p.R32S |
Missense |
2/16 |
- |
2 |
12-112884161-G-T |
c.96G>T |
p.R32S |
Missense |
2/16 |
- |
2 |
12-112884162-C-A |
c.97C>A |
p.P33T |
Missense |
2/16 |
- |
1 |
12-112884162-CC-AA |
c.97_98delinsAA |
p.P33N |
Missense |
2/16 |
- |
1 |
12-112884162-CC-AT |
c.97_98delinsAT |
p.P33I |
Missense |
2/16 |
- |
1 |
12-112884162-CC-GA |
c.97_98delinsGA |
p.P33D |
Missense |
2/16 |
- |
1 |
12-112884162-CC-GG |
c.97_98inv |
p.P33G |
Missense |
2/16 |
- |
1 |
12-112884162-CC-GT |
c.97_98delinsGT |
p.P33V |
Missense |
2/16 |
- |
1 |
12-112884162-CC-TA |
c.97_98delinsTA |
p.P33Y |
Missense |
2/16 |
- |
1 |
12-112884162-CCT-AAG |
c.97_99delinsAAG |
p.P33K |
Missense |
2/16 |
- |
1 |
12-112884162-CCT-ATG |
c.97_99delinsATG |
p.P33M |
Missense |
2/16 |
- |
1 |
12-112884162-CC-TG |
c.97_98delinsTG |
p.P33C |
Missense |
2/16 |
- |
1 |
12-112884162-CCT-GAG |
c.97_99delinsGAG |
p.P33E |
Missense |
2/16 |
- |
1 |
12-112884162-CC-TT |
c.97_98delinsTT |
p.P33F |
Missense |
2/16 |
- |
1 |
12-112884162-CCT-TGG |
c.97_99delinsTGG |
p.P33W |
Missense |
2/16 |
- |
1 |
12-112884162-C-G |
c.97C>G |
p.P33A |
Missense |
2/16 |
- |
2 |
12-112884162-C-T |
c.97C>T |
p.P33S |
Missense |
2/16 |
- |
1 |
12-112884163-C-A |
c.98C>A |
p.P33H |
Missense |
2/16 |
- |
1 |
12-112884163-C-G |
c.98C>G |
p.P33R |
Missense |
2/16 |
- |
2 |
12-112884163-C-T |
c.98C>T |
p.P33L |
Missense |
2/16 |
- |
9 |
12-112884163-CT-AA |
c.98_99delinsAA |
p.P33Q |
Missense |
2/16 |
- |
1 |
12-112884165-A-G |
c.100A>G |
p.S34G |
Missense |
2/16 |
- |
2 |
12-112884165-AG-CA |
c.100_101delinsCA |
p.S34H |
Missense |
2/16 |
- |
1 |
12-112884165-AG-CC |
c.100_101delinsCC |
p.S34P |
Missense |
2/16 |
- |
1 |
12-112884165-AG-CT |
c.100_101inv |
p.S34L |
Missense |
2/16 |
- |
1 |
12-112884165-AG-GA |
c.100_101delinsGA |
p.S34D |
Missense |
2/16 |
- |
1 |
12-112884165-AG-GC |
c.100_101delinsGC |
p.S34A |
Missense |
2/16 |
- |
3 |
12-112884165-AG-GT |
c.100_101delinsGT |
p.S34V |
Missense |
2/16 |
- |
1 |
12-112884165-AG-TA |
c.100_101delinsTA |
p.S34Y |
Missense |
2/16 |
- |
1 |
12-112884165-AGT-CAA |
c.100_102delinsCAA |
p.S34Q |
Missense |
2/16 |
- |
1 |
12-112884165-AGT-GAG |
c.100_102delinsGAG |
p.S34E |
Missense |
2/16 |
- |
1 |
12-112884165-AG-TT |
c.100_101delinsTT |
p.S34F |
Missense |
2/16 |
- |
1 |
12-112884165-AGT-TGG |
c.100_102delinsTGG |
p.S34W |
Missense |
2/16 |
- |
1 |
12-112884165-A-T |
c.100A>T |
p.S34C |
Missense |
2/16 |
- |
4 |
12-112884166-G-A |
c.101G>A |
p.S34N |
Missense |
2/16 |
- |
1 |
12-112884166-G-C |
c.101G>C |
p.S34T |
Missense |
2/16 |
- |
1 |
12-112884166-G-T |
c.101G>T |
p.S34I |
Missense |
2/16 |
- |
1 |
12-112884166-GT-AG |
c.101_102delinsAG |
p.S34K |
Missense |
2/16 |
- |
1 |
12-112884166-GT-TG |
c.101_102delinsTG |
p.S34M |
Missense |
2/16 |
- |
1 |
12-112884165-A-C |
c.100A>C |
p.S34R |
Missense |
2/16 |
- |
1 |
12-112884167-T-A |
c.102T>A |
p.S34R |
Missense |
2/16 |
- |
1 |
12-112884167-T-C |
c.102T>C |
p.S34= |
Synonymous |
2/16 |
- |
1 |
12-112884167-T-G |
c.102T>G |
p.S34R |
Missense |
2/16 |
- |
1 |
12-112884168-AAA-CAT |
c.103_105delinsCAT |
p.K35H |
Missense |
2/16 |
- |
1 |
12-112884168-AAA-GAC |
c.103_105delinsGAC |
p.K35D |
Missense |
2/16 |
- |
1 |
12-112884168-AAA-TAT |
c.103_105delinsTAT |
p.K35Y |
Missense |
2/16 |
- |
1 |
12-112884168-AAA-TGG |
c.103_105delinsTGG |
p.K35W |
Missense |
2/16 |
- |
1 |
12-112884168-AAA-TGT |
c.103_105delinsTGT |
p.K35C |
Missense |
2/16 |
- |
1 |
12-112884168-AAA-TTT |
c.103_105inv |
p.K35F |
Missense |
2/16 |
- |
1 |
12-112884168-AA-CC |
c.103_104delinsCC |
p.K35P |
Missense |
2/16 |
- |
1 |
12-112884168-AA-CT |
c.103_104delinsCT |
p.K35L |
Missense |
2/16 |
- |
1 |
12-112884168-AA-GC |
c.103_104delinsGC |
p.K35A |
Missense |
2/16 |
- |
2 |
12-112884168-AA-GG |
c.103_104delinsGG |
p.K35G |
Missense |
2/16 |
- |
1 |
12-112884168-AA-GT |
c.103_104delinsGT |
p.K35V |
Missense |
2/16 |
- |
1 |
12-112884168-A-C |
c.103A>C |
p.K35Q |
Missense |
2/16 |
- |
2 |
12-112884168-A-G |
c.103A>G |
p.K35E |
Missense |
2/16 |
- |
2 |
12-112884169-AA-GC |
c.104_105delinsGC |
p.K35S |
Missense |
2/16 |
- |
1 |
12-112884169-AA-TG |
c.104_105delinsTG |
p.K35M |
Missense |
2/16 |
- |
1 |
12-112884169-A-C |
c.104A>C |
p.K35T |
Missense |
2/16 |
- |
1 |
12-112884169-A-G |
c.104A>G |
p.K35R |
Missense |
2/16 |
- |
2 |
12-112884169-A-T |
c.104A>T |
p.K35I |
Missense |
2/16 |
- |
1 |
12-112884170-A-C |
c.105A>C |
p.K35N |
Missense |
2/16 |
- |
1 |
12-112884170-A-G |
c.105A>G |
p.K35= |
Synonymous |
2/16 |
- |
1 |
12-112884170-A-T |
c.105A>T |
p.K35N |
Missense |
2/16 |
- |
1 |
12-112884171-A-G |
c.106A>G |
p.S36G |
Missense |
2/16 |
- |
1 |
12-112884171-AG-CA |
c.106_107delinsCA |
p.S36H |
Missense |
2/16 |
- |
1 |
12-112884171-AG-CC |
c.106_107delinsCC |
p.S36P |
Missense |
2/16 |
- |
1 |
12-112884171-AG-CT |
c.106_107inv |
p.S36L |
Missense |
2/16 |
- |
1 |
12-112884171-AG-GA |
c.106_107delinsGA |
p.S36D |
Missense |
2/16 |
- |
1 |
12-112884171-AG-GC |
c.106_107delinsGC |
p.S36A |
Missense |
2/16 |
- |
1 |
12-112884171-AG-GT |
c.106_107delinsGT |
p.S36V |
Missense |
2/16 |
- |
1 |
12-112884171-AG-TA |
c.106_107delinsTA |
p.S36Y |
Missense |
2/16 |
- |
1 |
12-112884171-AGT-CAA |
c.106_108delinsCAA |
p.S36Q |
Missense |
2/16 |
- |
1 |
12-112884171-AGT-GAG |
c.106_108delinsGAG |
p.S36E |
Missense |
2/16 |
- |
1 |
12-112884171-AG-TT |
c.106_107delinsTT |
p.S36F |
Missense |
2/16 |
- |
1 |
12-112884171-AGT-TGG |
c.106_108delinsTGG |
p.S36W |
Missense |
2/16 |
- |
1 |
12-112884171-A-T |
c.106A>T |
p.S36C |
Missense |
2/16 |
- |
1 |
12-112884172-G-A |
c.107G>A |
p.S36N |
Missense |
2/16 |
- |
2 |
12-112884172-G-C |
c.107G>C |
p.S36T |
Missense |
2/16 |
- |
2 |
12-112884172-G-T |
c.107G>T |
p.S36I |
Missense |
2/16 |
- |
1 |
12-112884172-GT-AG |
c.107_108delinsAG |
p.S36K |
Missense |
2/16 |
- |
1 |
12-112884172-GT-TG |
c.107_108delinsTG |
p.S36M |
Missense |
2/16 |
- |
1 |
12-112884171-A-C |
c.106A>C |
p.S36R |
Missense |
2/16 |
- |
1 |
12-112884173-T-A |
c.108T>A |
p.S36R |
Missense |
2/16 |
- |
1 |
12-112884173-T-C |
c.108T>C |
p.S36= |
Synonymous |
2/16 |
- |
1 |
12-112884173-T-G |
c.108T>G |
p.S36R |
Missense |
2/16 |
- |
1 |
12-112884174-AA-CC |
c.109_110delinsCC |
p.N37P |
Missense |
2/16 |
- |
1 |
12-112884174-AAC-CAA |
c.109_111delinsCAA |
p.N37Q |
Missense |
2/16 |
- |
1 |
12-112884174-AAC-GAG |
c.109_111delinsGAG |
p.N37E |
Missense |
2/16 |
- |
1 |
12-112884174-AA-CT |
c.109_110delinsCT |
p.N37L |
Missense |
2/16 |
- |
1 |
12-112884174-AAC-TGG |
c.109_111delinsTGG |
p.N37W |
Missense |
2/16 |
- |
1 |
12-112884174-AA-GC |
c.109_110delinsGC |
p.N37A |
Missense |
2/16 |
- |
1 |
12-112884174-AA-GG |
c.109_110delinsGG |
p.N37G |
Missense |
2/16 |
- |
1 |
12-112884174-AA-GT |
c.109_110delinsGT |
p.N37V |
Missense |
2/16 |
- |
2 |
12-112884174-AA-TG |
c.109_110delinsTG |
p.N37C |
Missense |
2/16 |
- |
1 |
12-112884174-AA-TT |
c.109_110inv |
p.N37F |
Missense |
2/16 |
- |
1 |
12-112884174-A-C |
c.109A>C |
p.N37H |
Missense |
2/16 |
- |
1 |
12-112884174-A-G |
c.109A>G |
p.N37D |
Missense |
2/16 |
- |
1 |
12-112884174-A-T |
c.109A>T |
p.N37Y |
Missense |
2/16 |
- |
1 |
12-112884175-A-C |
c.110A>C |
p.N37T |
Missense |
2/16 |
- |
2 |
12-112884175-AC-GG |
c.110_111delinsGG |
p.N37R |
Missense |
2/16 |
- |
1 |
12-112884175-AC-TG |
c.110_111delinsTG |
p.N37M |
Missense |
2/16 |
- |
1 |
12-112884175-A-G |
c.110A>G |
p.N37S |
Missense |
2/16 |
- |
1 |
12-112884175-A-T |
c.110A>T |
p.N37I |
Missense |
2/16 |
- |
1 |
12-112884176-C-A |
c.111C>A |
p.N37K |
Missense |
2/16 |
- |
3 |
12-112884176-C-G |
c.111C>G |
p.N37K |
Missense |
2/16 |
- |
2 |
12-112884177-C-A |
c.112C>A |
p.P38T |
Missense |
2/16 |
- |
1 |
12-112884177-CC-AA |
c.112_113delinsAA |
p.P38N |
Missense |
2/16 |
- |
1 |
12-112884177-CC-AT |
c.112_113delinsAT |
p.P38I |
Missense |
2/16 |
- |
6 |
12-112884177-CC-GA |
c.112_113delinsGA |
p.P38D |
Missense |
2/16 |
- |
3 |
12-112884177-CC-GG |
c.112_113inv |
p.P38G |
Missense |
2/16 |
- |
9 |
12-112884177-CC-GT |
c.112_113delinsGT |
p.P38V |
Missense |
2/16 |
- |
1 |
12-112884177-CC-TA |
c.112_113delinsTA |
p.P38Y |
Missense |
2/16 |
- |
1 |
12-112884177-CCT-AAG |
c.112_114delinsAAG |
p.P38K |
Missense |
2/16 |
- |
2 |
12-112884177-CCT-ATG |
c.112_114delinsATG |
p.P38M |
Missense |
2/16 |
- |
1 |
12-112884177-CC-TG |
c.112_113delinsTG |
p.P38C |
Missense |
2/16 |
- |
2 |
12-112884177-CCT-GAG |
c.112_114delinsGAG |
p.P38E |
Missense |
2/16 |
- |
1 |
12-112884177-CC-TT |
c.112_113delinsTT |
p.P38F |
Missense |
2/16 |
- |
1 |
12-112884177-CCT-TGG |
c.112_114delinsTGG |
p.P38W |
Missense |
2/16 |
- |
1 |
12-112884177-C-G |
c.112C>G |
p.P38A |
Missense |
2/16 |
- |
14 |
12-112884177-C-T |
c.112C>T |
p.P38S |
Missense |
2/16 |
- |
5 |
12-112884178-C-A |
c.113C>A |
p.P38H |
Missense |
2/16 |
- |
2 |
12-112884178-C-G |
c.113C>G |
p.P38R |
Missense |
2/16 |
- |
1 |
12-112884178-C-T |
c.113C>T |
p.P38L |
Missense |
2/16 |
- |
2 |
12-112884178-CT-AA |
c.113_114delinsAA |
p.P38Q |
Missense |
2/16 |
- |
1 |
12-112884179-T-A |
c.114T>A |
p.P38= |
Synonymous |
2/16 |
- |
1 |
12-112884179-T-C |
c.114T>C |
p.P38= |
Synonymous |
2/16 |
- |
1 |
12-112884179-T-G |
c.114T>G |
p.P38= |
Synonymous |
2/16 |
- |
1 |
12-112884180-G-A |
c.115G>A |
p.G39R |
Missense |
2/16 |
- |
2 |
12-112884180-G-C |
c.115G>C |
p.G39R |
Missense |
2/16 |
- |
2 |
12-112884180-GG-AA |
c.115_116delinsAA |
p.G39K |
Missense |
2/16 |
- |
1 |
12-112884180-GGA-AAC |
c.115_117delinsAAC |
p.G39N |
Missense |
2/16 |
- |
1 |
12-112884180-GGA-AGC |
c.115_117delinsAGC |
p.G39S |
Missense |
2/16 |
- |
1 |
12-112884180-GGA-ATG |
c.115_117delinsATG |
p.G39M |
Missense |
2/16 |
- |
1 |
12-112884180-GG-AC |
c.115_116delinsAC |
p.G39T |
Missense |
2/16 |
- |
1 |
12-112884180-GGA-CAT |
c.115_117delinsCAT |
p.G39H |
Missense |
2/16 |
- |
1 |
12-112884180-GG-AT |
c.115_116delinsAT |
p.G39I |
Missense |
2/16 |
- |
1 |
12-112884180-GGA-TAT |
c.115_117delinsTAT |
p.G39Y |
Missense |
2/16 |
- |
1 |
12-112884180-GGA-TGG |
c.115_117delinsTGG |
p.G39W |
Missense |
2/16 |
- |
1 |
12-112884180-GGA-TGT |
c.115_117delinsTGT |
p.G39C |
Missense |
2/16 |
- |
1 |
12-112884180-GGA-TTT |
c.115_117delinsTTT |
p.G39F |
Missense |
2/16 |
- |
1 |
12-112884180-GG-CA |
c.115_116delinsCA |
p.G39Q |
Missense |
2/16 |
- |
1 |
12-112884180-GG-CC |
c.115_116inv |
p.G39P |
Missense |
2/16 |
- |
1 |
12-112884180-GG-CT |
c.115_116delinsCT |
p.G39L |
Missense |
2/16 |
- |
1 |
12-112884181-G-A |
c.116G>A |
p.G39E |
Missense |
2/16 |
- |
1 |
12-112884181-GA-AC |
c.116_117delinsAC |
p.G39D |
Missense |
2/16 |
- |
2 |
12-112884181-G-C |
c.116G>C |
p.G39A |
Missense |
2/16 |
- |
1 |
12-112884181-G-T |
c.116G>T |
p.G39V |
Missense |
2/16 |
- |
1 |
12-112884183-G-A |
c.118G>A |
p.D40N |
Missense |
2/16 |
- |
2 |
12-112884183-GA-AC |
c.118_119delinsAC |
p.D40T |
Missense |
2/16 |
- |
1 |
12-112884183-GA-AG |
c.118_119delinsAG |
p.D40S |
Missense |
2/16 |
- |
1 |
12-112884183-GA-AT |
c.118_119delinsAT |
p.D40I |
Missense |
2/16 |
- |
1 |
12-112884183-GAC-AAG |
c.118_120delinsAAG |
p.D40K |
Missense |
2/16 |
- |
1 |
12-112884183-GAC-ATG |
c.118_120delinsATG |
p.D40M |
Missense |
2/16 |
- |
1 |
12-112884183-GA-CC |
c.118_119delinsCC |
p.D40P |
Missense |
2/16 |
- |
1 |
12-112884183-GAC-CAA |
c.118_120delinsCAA |
p.D40Q |
Missense |
2/16 |
- |
1 |
12-112884183-GA-CG |
c.118_119delinsCG |
p.D40R |
Missense |
2/16 |
- |
1 |
12-112884183-GA-CT |
c.118_119delinsCT |
p.D40L |
Missense |
2/16 |
- |
1 |
12-112884183-GAC-TGG |
c.118_120delinsTGG |
p.D40W |
Missense |
2/16 |
- |
1 |
12-112884183-GA-TG |
c.118_119delinsTG |
p.D40C |
Missense |
2/16 |
- |
1 |
12-112884183-GA-TT |
c.118_119delinsTT |
p.D40F |
Missense |
2/16 |
- |
1 |
12-112884183-G-C |
c.118G>C |
p.D40H |
Missense |
2/16 |
- |
1 |
12-112884183-G-T |
c.118G>T |
p.D40Y |
Missense |
2/16 |
- |
1 |
12-112884184-A-C |
c.119A>C |
p.D40A |
Missense |
2/16 |
- |
6 |
12-112884184-A-G |
c.119A>G |
p.D40G |
Missense |
2/16 |
- |
3 |
12-112884184-A-T |
c.119A>T |
p.D40V |
Missense |
2/16 |
- |
1 |
12-112884185-C-A |
c.120C>A |
p.D40E |
Missense |
2/16 |
- |
1 |
12-112884185-C-G |
c.120C>G |
p.D40E |
Missense |
2/16 |
- |
1 |
12-112884186-T-A |
c.121T>A |
p.F41I |
Missense |
2/16 |
- |
1 |
12-112884186-T-C |
c.121T>C |
p.F41L |
Missense |
2/16 |
- |
6 |
12-112884186-T-G |
c.121T>G |
p.F41V |
Missense |
2/16 |
- |
1 |
12-112884186-TT-AA |
c.121_122inv |
p.F41N |
Missense |
2/16 |
- |
1 |
12-112884186-TT-AC |
c.121_122delinsAC |
p.F41T |
Missense |
2/16 |
- |
1 |
12-112884186-TT-CA |
c.121_122delinsCA |
p.F41H |
Missense |
2/16 |
- |
1 |
12-112884186-TTC-AAG |
c.121_123delinsAAG |
p.F41K |
Missense |
2/16 |
- |
1 |
12-112884186-TTC-ATG |
c.121_123delinsATG |
p.F41M |
Missense |
2/16 |
- |
1 |
12-112884186-TT-CC |
c.121_122delinsCC |
p.F41P |
Missense |
2/16 |
- |
1 |
12-112884186-TTC-CAA |
c.121_123delinsCAA |
p.F41Q |
Missense |
2/16 |
- |
1 |
12-112884186-TT-CG |
c.121_122delinsCG |
p.F41R |
Missense |
2/16 |
- |
1 |
12-112884186-TTC-GAG |
c.121_123delinsGAG |
p.F41E |
Missense |
2/16 |
- |
1 |
12-112884186-TT-GA |
c.121_122delinsGA |
p.F41D |
Missense |
2/16 |
- |
1 |
12-112884186-TT-GC |
c.121_122delinsGC |
p.F41A |
Missense |
2/16 |
- |
4 |
12-112884186-TT-GG |
c.121_122delinsGG |
p.F41G |
Missense |
2/16 |
- |
1 |
12-112884188-C-A |
c.123C>A |
p.F41L |
Missense |
2/16 |
- |
6 |
12-112884188-C-G |
c.123C>G |
p.F41L |
Missense |
2/16 |
- |
6 |
12-112884187-T-A |
c.122T>A |
p.F41Y |
Missense |
2/16 |
- |
1 |
12-112884187-T-C |
c.122T>C |
p.F41S |
Missense |
2/16 |
- |
3 |
12-112884187-TC-GG |
c.122_123delinsGG |
p.F41W |
Missense |
2/16 |
- |
1 |
12-112884187-T-G |
c.122T>G |
p.F41C |
Missense |
2/16 |
- |
2 |
12-112884189-A-C |
c.124A>C |
p.T42P |
Missense |
2/16 |
- |
1 |
12-112884189-ACA-CAT |
c.124_126delinsCAT |
p.T42H |
Missense |
2/16 |
- |
1 |
12-112884189-ACA-GAC |
c.124_126delinsGAC |
p.T42D |
Missense |
2/16 |
- |
1 |
12-112884189-ACA-TAT |
c.124_126delinsTAT |
p.T42Y |
Missense |
2/16 |
- |
1 |
12-112884189-ACA-TGG |
c.124_126delinsTGG |
p.T42W |
Missense |
2/16 |
- |
1 |
12-112884189-ACA-TGT |
c.124_126inv |
p.T42C |
Missense |
2/16 |
- |
1 |
12-112884189-ACA-TTT |
c.124_126delinsTTT |
p.T42F |
Missense |
2/16 |
- |
1 |
12-112884189-AC-CA |
c.124_125delinsCA |
p.T42Q |
Missense |
2/16 |
- |
1 |
12-112884189-AC-CT |
c.124_125delinsCT |
p.T42L |
Missense |
2/16 |
- |
1 |
12-112884189-AC-GA |
c.124_125delinsGA |
p.T42E |
Missense |
2/16 |
- |
1 |
12-112884189-AC-GG |
c.124_125delinsGG |
p.T42G |
Missense |
2/16 |
- |
1 |
12-112884189-AC-GT |
c.124_125inv |
p.T42V |
Missense |
2/16 |
- |
1 |
12-112884189-A-G |
c.124A>G |
p.T42A |
Missense |
2/16 |
- |
51 |
12-112884189-A-T |
c.124A>T |
p.T42S |
Missense |
2/16 |
- |
5 |
12-112884190-C-A |
c.125C>A |
p.T42K |
Missense |
2/16 |
- |
2 |
12-112884190-CA-AC |
c.125_126delinsAC |
p.T42N |
Missense |
2/16 |
- |
1 |
12-112884190-CA-TG |
c.125_126inv |
p.T42M |
Missense |
2/16 |
- |
1 |
12-112884190-C-G |
c.125C>G |
p.T42R |
Missense |
2/16 |
- |
2 |
12-112884190-C-T |
c.125C>T |
p.T42I |
Missense |
2/16 |
- |
4 |
12-112884192-C-A |
c.127C>A |
p.L43I |
Missense |
2/16 |
- |
1 |
12-112884192-C-G |
c.127C>G |
p.L43V |
Missense |
2/16 |
- |
1 |
12-112884192-C-T |
c.127C>T |
p.L43F |
Missense |
2/16 |
- |
6 |
12-112884192-CT-AA |
c.127_128delinsAA |
p.L43N |
Missense |
2/16 |
- |
1 |
12-112884192-CT-AC |
c.127_128delinsAC |
p.L43T |
Missense |
2/16 |
- |
2 |
12-112884192-CT-AG |
c.127_128inv |
p.L43S |
Missense |
2/16 |
- |
1 |
12-112884192-CT-GA |
c.127_128delinsGA |
p.L43D |
Missense |
2/16 |
- |
1 |
12-112884192-CT-GC |
c.127_128delinsGC |
p.L43A |
Missense |
2/16 |
- |
1 |
12-112884192-CT-GG |
c.127_128delinsGG |
p.L43G |
Missense |
2/16 |
- |
1 |
12-112884192-CT-TA |
c.127_128delinsTA |
p.L43Y |
Missense |
2/16 |
- |
1 |
12-112884192-CTT-AAG |
c.127_129inv |
p.L43K |
Missense |
2/16 |
- |
1 |
12-112884192-CTT-ATG |
c.127_129delinsATG |
p.L43M |
Missense |
2/16 |
- |
1 |
12-112884192-CT-TG |
c.127_128delinsTG |
p.L43C |
Missense |
2/16 |
- |
1 |
12-112884192-CTT-GAG |
c.127_129delinsGAG |
p.L43E |
Missense |
2/16 |
- |
1 |
12-112884192-CTT-TGG |
c.127_129delinsTGG |
p.L43W |
Missense |
2/16 |
- |
1 |
12-112884193-T-A |
c.128T>A |
p.L43H |
Missense |
2/16 |
- |
1 |
12-112884193-T-C |
c.128T>C |
p.L43P |
Missense |
2/16 |
- |
2 |
12-112884193-T-G |
c.128T>G |
p.L43R |
Missense |
2/16 |
- |
1 |
12-112884193-TT-AA |
c.128_129inv |
p.L43Q |
Missense |
2/16 |
- |
1 |
12-112884195-T-A |
c.130T>A |
p.S44T |
Missense |
2/16 |
- |
1 |
12-112884195-T-C |
c.130T>C |
p.S44P |
Missense |
2/16 |
- |
1 |
12-112884195-TC-AA |
c.130_131delinsAA |
p.S44N |
Missense |
2/16 |
- |
1 |
12-112884195-TC-AT |
c.130_131delinsAT |
p.S44I |
Missense |
2/16 |
- |
1 |
12-112884195-TC-CA |
c.130_131delinsCA |
p.S44H |
Missense |
2/16 |
- |
1 |
12-112884195-TCC-AAG |
c.130_132delinsAAG |
p.S44K |
Missense |
2/16 |
- |
1 |
12-112884195-TCC-ATG |
c.130_132delinsATG |
p.S44M |
Missense |
2/16 |
- |
1 |
12-112884195-TCC-CAA |
c.130_132delinsCAA |
p.S44Q |
Missense |
2/16 |
- |
1 |
12-112884195-TC-CG |
c.130_131delinsCG |
p.S44R |
Missense |
2/16 |
- |
1 |
12-112884195-TCC-GAG |
c.130_132delinsGAG |
p.S44E |
Missense |
2/16 |
- |
1 |
12-112884195-TC-CT |
c.130_131delinsCT |
p.S44L |
Missense |
2/16 |
- |
1 |
12-112884195-TC-GA |
c.130_131inv |
p.S44D |
Missense |
2/16 |
- |
1 |
12-112884195-TC-GG |
c.130_131delinsGG |
p.S44G |
Missense |
2/16 |
- |
1 |
12-112884195-TC-GT |
c.130_131delinsGT |
p.S44V |
Missense |
2/16 |
- |
1 |
12-112884195-T-G |
c.130T>G |
p.S44A |
Missense |
2/16 |
- |
1 |
12-112884196-C-A |
c.131C>A |
p.S44Y |
Missense |
2/16 |
- |
1 |
12-112884196-CC-GG |
c.131_132inv |
p.S44W |
Missense |
2/16 |
- |
1 |
12-112884196-C-G |
c.131C>G |
p.S44C |
Missense |
2/16 |
- |
1 |
12-112884196-C-T |
c.131C>T |
p.S44F |
Missense |
2/16 |
- |
4 |
12-112884197-C-T |
c.132C>T |
p.S44= |
Synonymous |
2/16 |
- |
1 |
12-112884198-G-A |
c.133G>A |
p.V45I |
Missense |
2/16 |
- |
8 |
12-112884198-G-C |
c.133G>C |
p.V45L |
Missense |
2/16 |
- |
13 |
12-112884198-G-T |
c.133G>T |
p.V45F |
Missense |
2/16 |
- |
1 |
12-112884198-GT-AA |
c.133_134delinsAA |
p.V45N |
Missense |
2/16 |
- |
2 |
12-112884198-GT-AC |
c.133_134inv |
p.V45T |
Missense |
2/16 |
- |
1 |
12-112884198-GT-AG |
c.133_134delinsAG |
p.V45S |
Missense |
2/16 |
- |
1 |
12-112884198-GT-CA |
c.133_134delinsCA |
p.V45H |
Missense |
2/16 |
- |
1 |
12-112884198-GT-CC |
c.133_134delinsCC |
p.V45P |
Missense |
2/16 |
- |
1 |
12-112884198-GT-CG |
c.133_134delinsCG |
p.V45R |
Missense |
2/16 |
- |
1 |
12-112884198-GT-TA |
c.133_134delinsTA |
p.V45Y |
Missense |
2/16 |
- |
1 |
12-112884198-GTT-AAG |
c.133_135delinsAAG |
p.V45K |
Missense |
2/16 |
- |
1 |
12-112884198-GTT-ATG |
c.133_135delinsATG |
p.V45M |
Missense |
2/16 |
- |
1 |
12-112884198-GTT-CAA |
c.133_135delinsCAA |
p.V45Q |
Missense |
2/16 |
- |
1 |
12-112884198-GT-TG |
c.133_134delinsTG |
p.V45C |
Missense |
2/16 |
- |
1 |
12-112884198-GTT-TGG |
c.133_135delinsTGG |
p.V45W |
Missense |
2/16 |
- |
1 |
12-112884199-T-A |
c.134T>A |
p.V45D |
Missense |
2/16 |
- |
1 |
12-112884199-T-C |
c.134T>C |
p.V45A |
Missense |
2/16 |
- |
2 |
12-112884199-T-G |
c.134T>G |
p.V45G |
Missense |
2/16 |
- |
2 |
12-112884199-TT-AG |
c.134_135delinsAG |
p.V45E |
Missense |
2/16 |
- |
1 |
12-112884198-G-GT |
c.135dup |
p.R46* |
SpliceDonorInsertion |
2/16 |
- |
1 |
12-112884200-T-TC |
c.135_136insC |
p.R46Qfs*16 |
SpliceDonorInsertion |
2/16 |
- |
1 |
12-112884200-T-TG |
c.135_136insG |
p.R46Efs*16 |
SpliceDonorInsertion |
2/16 |
- |
1 |
12-112884200-T-TA |
c.136dup |
p.R46Kfs*16 |
SpliceDonorInsertion |
2/16 |
- |
1 |
12-112884201-A-G |
c.136A>G |
p.R46G |
Missense |
2/16 |
- |
3 |
12-112884201-AG-CA |
c.136_137delinsCA |
p.R46Q |
Missense |
2/16 |
- |
1 |
12-112884201-AG-CC |
c.136_137delinsCC |
p.R46P |
Missense |
2/16 |
- |
1 |
12-112884201-AG-CT |
c.136_137inv |
p.R46L |
Missense |
2/16 |
- |
1 |
12-112884201-AG-GA |
c.136_137delinsGA |
p.R46E |
Missense |
2/16 |
- |
1 |
12-112884201-AG-GC |
c.136_137delinsGC |
p.R46A |
Missense |
2/16 |
- |
1 |
12-112884201-AG-GT |
c.136_137delinsGT |
p.R46V |
Missense |
2/16 |
- |
1 |
12-112884202-G-A |
c.137G>A |
p.R46K |
Missense |
2/16 |
- |
2 |
12-112884202-G-C |
c.137G>C |
p.R46T |
Missense |
2/16 |
- |
1 |
12-112884202-G-T |
c.137G>T |
p.R46I |
Missense |
2/16 |
- |
1 |
12-112887941-G-C |
c.138-181G>C |
- |
IntronicSNV |
- |
2/15 |
1 |
12-112888122-A-C |
c.138A>C |
p.R46S |
Missense |
3/16 |
- |
1 |
12-112888122-A-T |
c.138A>T |
p.R46S |
Missense |
3/16 |
- |
1 |
12-112888123-A-G |
c.139A>G |
p.R47G |
Missense |
3/16 |
- |
2 |
12-112888123-AGA-CAT |
c.139_141delinsCAT |
p.R47H |
Missense |
3/16 |
- |
1 |
12-112888123-AGA-GAC |
c.139_141delinsGAC |
p.R47D |
Missense |
3/16 |
- |
1 |
12-112888123-AGA-TAT |
c.139_141delinsTAT |
p.R47Y |
Missense |
3/16 |
- |
1 |
12-112888123-AGA-TGG |
c.139_141delinsTGG |
p.R47W |
Missense |
3/16 |
- |
1 |
12-112888123-AGA-TGT |
c.139_141delinsTGT |
p.R47C |
Missense |
3/16 |
- |
1 |
12-112888123-AGA-TTT |
c.139_141delinsTTT |
p.R47F |
Missense |
3/16 |
- |
1 |
12-112888123-AG-CA |
c.139_140delinsCA |
p.R47Q |
Missense |
3/16 |
- |
1 |
12-112888123-AG-CC |
c.139_140delinsCC |
p.R47P |
Missense |
3/16 |
- |
1 |
12-112888123-AG-CT |
c.139_140inv |
p.R47L |
Missense |
3/16 |
- |
1 |
12-112888123-AG-GA |
c.139_140delinsGA |
p.R47E |
Missense |
3/16 |
- |
1 |
12-112888123-AG-GC |
c.139_140delinsGC |
p.R47A |
Missense |
3/16 |
- |
1 |
12-112888123-AG-GT |
c.139_140delinsGT |
p.R47V |
Missense |
3/16 |
- |
1 |
12-112888124-G-A |
c.140G>A |
p.R47K |
Missense |
3/16 |
- |
3 |
12-112888124-GA-AC |
c.140_141delinsAC |
p.R47N |
Missense |
3/16 |
- |
1 |
12-112888124-GA-TG |
c.140_141delinsTG |
p.R47M |
Missense |
3/16 |
- |
1 |
12-112888124-G-C |
c.140G>C |
p.R47T |
Missense |
3/16 |
- |
1 |
12-112888124-G-T |
c.140G>T |
p.R47I |
Missense |
3/16 |
- |
1 |
12-112888125-A-C |
c.141A>C |
p.R47S |
Missense |
3/16 |
- |
1 |
12-112888125-A-T |
c.141A>T |
p.R47S |
Missense |
3/16 |
- |
1 |
12-112888126-AA-CC |
c.142_143delinsCC |
p.N48P |
Missense |
3/16 |
- |
1 |
12-112888126-AA-CT |
c.142_143delinsCT |
p.N48L |
Missense |
3/16 |
- |
1 |
12-112888126-AA-GC |
c.142_143delinsGC |
p.N48A |
Missense |
3/16 |
- |
2 |
12-112888126-AA-GG |
c.142_143delinsGG |
p.N48G |
Missense |
3/16 |
- |
1 |
12-112888126-AA-GT |
c.142_143delinsGT |
p.N48V |
Missense |
3/16 |
- |
1 |
12-112888126-AAT-CAA |
c.142_144delinsCAA |
p.N48Q |
Missense |
3/16 |
- |
1 |
12-112888126-AA-TG |
c.142_143delinsTG |
p.N48C |
Missense |
3/16 |
- |
1 |
12-112888126-AAT-GAG |
c.142_144delinsGAG |
p.N48E |
Missense |
3/16 |
- |
1 |
12-112888126-AA-TT |
c.142_143inv |
p.N48F |
Missense |
3/16 |
- |
1 |
12-112888126-AAT-TGG |
c.142_144delinsTGG |
p.N48W |
Missense |
3/16 |
- |
1 |
12-112888126-A-C |
c.142A>C |
p.N48H |
Missense |
3/16 |
- |
1 |
12-112888126-A-G |
c.142A>G |
p.N48D |
Missense |
3/16 |
- |
2 |
12-112888126-A-T |
c.142A>T |
p.N48Y |
Missense |
3/16 |
- |
1 |
12-112888124-G-GA |
c.143dup |
p.N48Kfs*14 |
Frameshift |
3/16 |
- |
1 |
12-112888127-A-C |
c.143A>C |
p.N48T |
Missense |
3/16 |
- |
1 |
12-112888127-A-G |
c.143A>G |
p.N48S |
Missense |
3/16 |
- |
9 |
12-112888127-A-T |
c.143A>T |
p.N48I |
Missense |
3/16 |
- |
1 |
12-112888127-AT-GG |
c.143_144delinsGG |
p.N48R |
Missense |
3/16 |
- |
1 |
12-112888127-AT-TG |
c.143_144delinsTG |
p.N48M |
Missense |
3/16 |
- |
1 |
12-112888128-T-A |
c.144T>A |
p.N48K |
Missense |
3/16 |
- |
4 |
12-112888128-T-G |
c.144T>G |
p.N48K |
Missense |
3/16 |
- |
4 |
12-112888129-G-A |
c.145G>A |
p.G49R |
Missense |
3/16 |
- |
2 |
12-112888129-G-C |
c.145G>C |
p.G49R |
Missense |
3/16 |
- |
1 |
12-112888129-GG-AA |
c.145_146delinsAA |
p.G49K |
Missense |
3/16 |
- |
1 |
12-112888129-GGA-AAC |
c.145_147delinsAAC |
p.G49N |
Missense |
3/16 |
- |
1 |
12-112888129-GGA-AGC |
c.145_147delinsAGC |
p.G49S |
Missense |
3/16 |
- |
1 |
12-112888129-GGA-ATG |
c.145_147delinsATG |
p.G49M |
Missense |
3/16 |
- |
1 |
12-112888129-GG-AC |
c.145_146delinsAC |
p.G49T |
Missense |
3/16 |
- |
1 |
12-112888129-GGA-CAT |
c.145_147delinsCAT |
p.G49H |
Missense |
3/16 |
- |
1 |
12-112888129-GG-AT |
c.145_146delinsAT |
p.G49I |
Missense |
3/16 |
- |
1 |
12-112888129-GGA-TAT |
c.145_147delinsTAT |
p.G49Y |
Missense |
3/16 |
- |
1 |
12-112888129-GGA-TGG |
c.145_147delinsTGG |
p.G49W |
Missense |
3/16 |
- |
1 |
12-112888129-GGA-TGT |
c.145_147delinsTGT |
p.G49C |
Missense |
3/16 |
- |
1 |
12-112888129-GGA-TTT |
c.145_147delinsTTT |
p.G49F |
Missense |
3/16 |
- |
1 |
12-112888129-GG-CA |
c.145_146delinsCA |
p.G49Q |
Missense |
3/16 |
- |
1 |
12-112888129-GG-CC |
c.145_146inv |
p.G49P |
Missense |
3/16 |
- |
1 |
12-112888129-GG-CT |
c.145_146delinsCT |
p.G49L |
Missense |
3/16 |
- |
1 |
12-112888130-G-A |
c.146G>A |
p.G49E |
Missense |
3/16 |
- |
1 |
12-112888130-GA-AC |
c.146_147delinsAC |
p.G49D |
Missense |
3/16 |
- |
1 |
12-112888130-G-C |
c.146G>C |
p.G49A |
Missense |
3/16 |
- |
2 |
12-112888130-G-T |
c.146G>T |
p.G49V |
Missense |
3/16 |
- |
1 |
12-112888132-G-A |
c.148G>A |
p.A50T |
Missense |
3/16 |
- |
5 |
12-112888132-G-C |
c.148G>C |
p.A50P |
Missense |
3/16 |
- |
1 |
12-112888132-GC-AA |
c.148_149delinsAA |
p.A50N |
Missense |
3/16 |
- |
1 |
12-112888132-GC-AT |
c.148_149delinsAT |
p.A50I |
Missense |
3/16 |
- |
1 |
12-112888132-GC-CA |
c.148_149delinsCA |
p.A50H |
Missense |
3/16 |
- |
2 |
12-112888132-GC-CG |
c.148_149delinsCG |
p.A50R |
Missense |
3/16 |
- |
2 |
12-112888132-GC-CT |
c.148_149delinsCT |
p.A50L |
Missense |
3/16 |
- |
1 |
12-112888132-GC-TA |
c.148_149delinsTA |
p.A50Y |
Missense |
3/16 |
- |
1 |
12-112888132-GCT-AAG |
c.148_150delinsAAG |
p.A50K |
Missense |
3/16 |
- |
1 |
12-112888132-GCT-ATG |
c.148_150delinsATG |
p.A50M |
Missense |
3/16 |
- |
1 |
12-112888132-GCT-CAA |
c.148_150delinsCAA |
p.A50Q |
Missense |
3/16 |
- |
1 |
12-112888132-GC-TG |
c.148_149delinsTG |
p.A50C |
Missense |
3/16 |
- |
1 |
12-112888132-GC-TT |
c.148_149delinsTT |
p.A50F |
Missense |
3/16 |
- |
1 |
12-112888132-GCT-TGG |
c.148_150delinsTGG |
p.A50W |
Missense |
3/16 |
- |
2 |
12-112888132-G-T |
c.148G>T |
p.A50S |
Missense |
3/16 |
- |
1 |
12-112888133-C-A |
c.149C>A |
p.A50D |
Missense |
3/16 |
- |
2 |
12-112888133-C-G |
c.149C>G |
p.A50G |
Missense |
3/16 |
- |
3 |
12-112888133-C-T |
c.149C>T |
p.A50V |
Missense |
3/16 |
- |
2 |
12-112888133-CT-AG |
c.149_150inv |
p.A50E |
Missense |
3/16 |
- |
1 |
12-112888134-T-A |
c.150T>A |
p.A50= |
Synonymous |
3/16 |
- |
2 |
12-112888134-T-C |
c.150T>C |
p.A50= |
Synonymous |
3/16 |
- |
3 |
12-112888134-T-G |
c.150T>G |
p.A50= |
Synonymous |
3/16 |
- |
2 |
12-112888135-G-A |
c.151G>A |
p.V51I |
Missense |
3/16 |
- |
1 |
12-112888135-G-C |
c.151G>C |
p.V51L |
Missense |
3/16 |
- |
1 |
12-112888135-G-T |
c.151G>T |
p.V51F |
Missense |
3/16 |
- |
1 |
12-112888135-GT-AA |
c.151_152delinsAA |
p.V51N |
Missense |
3/16 |
- |
1 |
12-112888135-GT-AC |
c.151_152inv |
p.V51T |
Missense |
3/16 |
- |
1 |
12-112888135-GT-AG |
c.151_152delinsAG |
p.V51S |
Missense |
3/16 |
- |
1 |
12-112888135-GT-CA |
c.151_152delinsCA |
p.V51H |
Missense |
3/16 |
- |
1 |
12-112888135-GTC-AAG |
c.151_153delinsAAG |
p.V51K |
Missense |
3/16 |
- |
1 |
12-112888135-GTC-ATG |
c.151_153delinsATG |
p.V51M |
Missense |
3/16 |
- |
1 |
12-112888135-GT-CC |
c.151_152delinsCC |
p.V51P |
Missense |
3/16 |
- |
1 |
12-112888135-GTC-CAA |
c.151_153delinsCAA |
p.V51Q |
Missense |
3/16 |
- |
1 |
12-112888135-GT-CG |
c.151_152delinsCG |
p.V51R |
Missense |
3/16 |
- |
1 |
12-112888135-GTC-TGG |
c.151_153delinsTGG |
p.V51W |
Missense |
3/16 |
- |
1 |
12-112888135-GT-TA |
c.151_152delinsTA |
p.V51Y |
Missense |
3/16 |
- |
1 |
12-112888135-GT-TG |
c.151_152delinsTG |
p.V51C |
Missense |
3/16 |
- |
1 |
12-112888136-T-A |
c.152T>A |
p.V51D |
Missense |
3/16 |
- |
1 |
12-112888136-T-C |
c.152T>C |
p.V51A |
Missense |
3/16 |
- |
4 |
12-112888136-TC-AG |
c.152_153delinsAG |
p.V51E |
Missense |
3/16 |
- |
1 |
12-112888136-T-G |
c.152T>G |
p.V51G |
Missense |
3/16 |
- |
2 |
12-112888137-C-T |
c.153C>T |
p.V51= |
Synonymous |
3/16 |
- |
1 |
12-112888138-A-C |
c.154A>C |
p.T52P |
Missense |
3/16 |
- |
1 |
12-112888138-AC-CA |
c.154_155delinsCA |
p.T52H |
Missense |
3/16 |
- |
1 |
12-112888138-ACC-CAA |
c.154_156delinsCAA |
p.T52Q |
Missense |
3/16 |
- |
1 |
12-112888138-ACC-GAG |
c.154_156delinsGAG |
p.T52E |
Missense |
3/16 |
- |
1 |
12-112888138-AC-CT |
c.154_155delinsCT |
p.T52L |
Missense |
3/16 |
- |
1 |
12-112888138-ACC-TGG |
c.154_156delinsTGG |
p.T52W |
Missense |
3/16 |
- |
1 |
12-112888138-AC-GA |
c.154_155delinsGA |
p.T52D |
Missense |
3/16 |
- |
1 |
12-112888138-AC-GG |
c.154_155delinsGG |
p.T52G |
Missense |
3/16 |
- |
1 |
12-112888138-AC-GT |
c.154_155inv |
p.T52V |
Missense |
3/16 |
- |
1 |
12-112888138-AC-TA |
c.154_155delinsTA |
p.T52Y |
Missense |
3/16 |
- |
1 |
12-112888138-AC-TG |
c.154_155delinsTG |
p.T52C |
Missense |
3/16 |
- |
1 |
12-112888138-AC-TT |
c.154_155delinsTT |
p.T52F |
Missense |
3/16 |
- |
1 |
12-112888138-A-G |
c.154A>G |
p.T52A |
Missense |
3/16 |
- |
5 |
12-112888138-A-T |
c.154A>T |
p.T52S |
Missense |
3/16 |
- |
9 |
12-112888139-C-A |
c.155C>A |
p.T52N |
Missense |
3/16 |
- |
2 |
12-112888139-CC-AG |
c.155_156delinsAG |
p.T52K |
Missense |
3/16 |
- |
1 |
12-112888139-CC-GG |
c.155_156inv |
p.T52R |
Missense |
3/16 |
- |
1 |
12-112888139-CC-TG |
c.155_156delinsTG |
p.T52M |
Missense |
3/16 |
- |
1 |
12-112888139-C-G |
c.155C>G |
p.T52S |
Missense |
3/16 |
- |
18 |
12-112888139-C-T |
c.155C>T |
p.T52I |
Missense |
3/16 |
- |
23 |
12-112888140-C-A |
c.156C>A |
p.T52= |
Synonymous |
3/16 |
- |
1 |
12-112888140-C-G |
c.156C>G |
p.T52= |
Synonymous |
3/16 |
- |
1 |
12-112888140-C-T |
c.156C>T |
p.T52= |
Synonymous |
3/16 |
- |
1 |
12-112888138-A-AC |
c.157dup |
p.H53Pfs*9 |
Frameshift |
3/16 |
- |
1 |
12-112888141-C-A |
c.157C>A |
p.H53N |
Missense |
3/16 |
- |
4 |
12-112888141-CA-AC |
c.157_158delinsAC |
p.H53T |
Missense |
3/16 |
- |
1 |
12-112888141-CA-AG |
c.157_158delinsAG |
p.H53S |
Missense |
3/16 |
- |
1 |
12-112888141-CA-AT |
c.157_158delinsAT |
p.H53I |
Missense |
3/16 |
- |
1 |
12-112888141-CAC-AAG |
c.157_159delinsAAG |
p.H53K |
Missense |
3/16 |
- |
1 |
12-112888141-CAC-ATG |
c.157_159delinsATG |
p.H53M |
Missense |
3/16 |
- |
1 |
12-112888141-CAC-GAG |
c.157_159delinsGAG |
p.H53E |
Missense |
3/16 |
- |
1 |
12-112888141-CAC-TGG |
c.157_159delinsTGG |
p.H53W |
Missense |
3/16 |
- |
1 |
12-112888141-CA-GC |
c.157_158delinsGC |
p.H53A |
Missense |
3/16 |
- |
1 |
12-112888141-CA-GG |
c.157_158delinsGG |
p.H53G |
Missense |
3/16 |
- |
1 |
12-112888141-CA-GT |
c.157_158delinsGT |
p.H53V |
Missense |
3/16 |
- |
1 |
12-112888141-CA-TG |
c.157_158inv |
p.H53C |
Missense |
3/16 |
- |
1 |
12-112888141-CA-TT |
c.157_158delinsTT |
p.H53F |
Missense |
3/16 |
- |
1 |
12-112888141-C-G |
c.157C>G |
p.H53D |
Missense |
3/16 |
- |
1 |
12-112888141-C-T |
c.157C>T |
p.H53Y |
Missense |
3/16 |
- |
1 |
12-112888142-A-C |
c.158A>C |
p.H53P |
Missense |
3/16 |
- |
1 |
12-112888142-A-G |
c.158A>G |
p.H53R |
Missense |
3/16 |
- |
1 |
12-112888142-A-T |
c.158A>T |
p.H53L |
Missense |
3/16 |
- |
1 |
12-112888143-C-A |
c.159C>A |
p.H53Q |
Missense |
3/16 |
- |
2 |
12-112888143-C-G |
c.159C>G |
p.H53Q |
Missense |
3/16 |
- |
2 |
12-112888143-C-T |
c.159C>T |
p.H53= |
Synonymous |
3/16 |
- |
1 |
12-112888144-A-C |
c.160A>C |
p.I54L |
Missense |
3/16 |
- |
1 |
12-112888144-A-G |
c.160A>G |
p.I54V |
Missense |
3/16 |
- |
5 |
12-112888144-A-T |
c.160A>T |
p.I54F |
Missense |
3/16 |
- |
1 |
12-112888144-AT-CA |
c.160_161delinsCA |
p.I54H |
Missense |
3/16 |
- |
1 |
12-112888144-AT-CC |
c.160_161delinsCC |
p.I54P |
Missense |
3/16 |
- |
1 |
12-112888144-ATC-CAA |
c.160_162delinsCAA |
p.I54Q |
Missense |
3/16 |
- |
1 |
12-112888144-ATC-GAG |
c.160_162delinsGAG |
p.I54E |
Missense |
3/16 |
- |
1 |
12-112888144-ATC-TGG |
c.160_162delinsTGG |
p.I54W |
Missense |
3/16 |
- |
1 |
12-112888144-AT-GA |
c.160_161delinsGA |
p.I54D |
Missense |
3/16 |
- |
1 |
12-112888144-AT-GC |
c.160_161delinsGC |
p.I54A |
Missense |
3/16 |
- |
1 |
12-112888144-AT-GG |
c.160_161delinsGG |
p.I54G |
Missense |
3/16 |
- |
1 |
12-112888144-AT-TA |
c.160_161delinsTA |
p.I54Y |
Missense |
3/16 |
- |
1 |
12-112888144-AT-TG |
c.160_161delinsTG |
p.I54C |
Missense |
3/16 |
- |
1 |
12-112888145-T-A |
c.161T>A |
p.I54N |
Missense |
3/16 |
- |
1 |
12-112888145-T-C |
c.161T>C |
p.I54T |
Missense |
3/16 |
- |
3 |
12-112888145-TC-AG |
c.161_162delinsAG |
p.I54K |
Missense |
3/16 |
- |
1 |
12-112888145-TC-GG |
c.161_162delinsGG |
p.I54R |
Missense |
3/16 |
- |
1 |
12-112888145-T-G |
c.161T>G |
p.I54S |
Missense |
3/16 |
- |
1 |
12-112888146-C-G |
c.162C>G |
p.I54M |
Missense |
3/16 |
- |
3 |
12-112888147-AA-CC |
c.163_164delinsCC |
p.K55P |
Missense |
3/16 |
- |
1 |
12-112888147-AA-CT |
c.163_164delinsCT |
p.K55L |
Missense |
3/16 |
- |
1 |
12-112888147-AA-GC |
c.163_164delinsGC |
p.K55A |
Missense |
3/16 |
- |
1 |
12-112888147-AAG-CAT |
c.163_165delinsCAT |
p.K55H |
Missense |
3/16 |
- |
1 |
12-112888147-AA-GG |
c.163_164delinsGG |
p.K55G |
Missense |
3/16 |
- |
1 |
12-112888147-AAG-GAC |
c.163_165delinsGAC |
p.K55D |
Missense |
3/16 |
- |
1 |
12-112888147-AA-GT |
c.163_164delinsGT |
p.K55V |
Missense |
3/16 |
- |
2 |
12-112888147-AAG-TAT |
c.163_165delinsTAT |
p.K55Y |
Missense |
3/16 |
- |
1 |
12-112888147-AAG-TGT |
c.163_165delinsTGT |
p.K55C |
Missense |
3/16 |
- |
1 |
12-112888147-AAG-TTT |
c.163_165delinsTTT |
p.K55F |
Missense |
3/16 |
- |
1 |
12-112888147-AA-TG |
c.163_164delinsTG |
p.K55W |
Missense |
3/16 |
- |
1 |
12-112888147-A-C |
c.163A>C |
p.K55Q |
Missense |
3/16 |
- |
1 |
12-112888147-A-G |
c.163A>G |
p.K55E |
Missense |
3/16 |
- |
1 |
12-112888148-A-C |
c.164A>C |
p.K55T |
Missense |
3/16 |
- |
2 |
12-112888148-A-G |
c.164A>G |
p.K55R |
Missense |
3/16 |
- |
4 |
12-112888148-AG-GC |
c.164_165delinsGC |
p.K55S |
Missense |
3/16 |
- |
1 |
12-112888148-AG-TC |
c.164_165delinsTC |
p.K55I |
Missense |
3/16 |
- |
1 |
12-112888148-A-T |
c.164A>T |
p.K55M |
Missense |
3/16 |
- |
1 |
12-112888149-G-C |
c.165G>C |
p.K55N |
Missense |
3/16 |
- |
5 |
12-112888149-G-T |
c.165G>T |
p.K55N |
Missense |
3/16 |
- |
7 |
12-112888150-A-C |
c.166A>C |
p.I56L |
Missense |
3/16 |
- |
1 |
12-112888150-A-G |
c.166A>G |
p.I56V |
Missense |
3/16 |
- |
11 |
12-112888150-A-T |
c.166A>T |
p.I56F |
Missense |
3/16 |
- |
1 |
12-112888150-AT-CA |
c.166_167delinsCA |
p.I56H |
Missense |
3/16 |
- |
1 |
12-112888150-AT-CC |
c.166_167delinsCC |
p.I56P |
Missense |
3/16 |
- |
1 |
12-112888150-AT-GA |
c.166_167delinsGA |
p.I56D |
Missense |
3/16 |
- |
1 |
12-112888150-AT-GC |
c.166_167delinsGC |
p.I56A |
Missense |
3/16 |
- |
1 |
12-112888150-AT-GG |
c.166_167delinsGG |
p.I56G |
Missense |
3/16 |
- |
1 |
12-112888150-AT-TA |
c.166_167delinsTA |
p.I56Y |
Missense |
3/16 |
- |
1 |
12-112888150-ATT-CAA |
c.166_168delinsCAA |
p.I56Q |
Missense |
3/16 |
- |
1 |
12-112888150-AT-TG |
c.166_167delinsTG |
p.I56C |
Missense |
3/16 |
- |
1 |
12-112888150-ATT-GAG |
c.166_168delinsGAG |
p.I56E |
Missense |
3/16 |
- |
1 |
12-112888150-ATT-TGG |
c.166_168delinsTGG |
p.I56W |
Missense |
3/16 |
- |
1 |
12-112888151-T-A |
c.167T>A |
p.I56N |
Missense |
3/16 |
- |
1 |
12-112888151-T-C |
c.167T>C |
p.I56T |
Missense |
3/16 |
- |
3 |
12-112888151-T-G |
c.167T>G |
p.I56S |
Missense |
3/16 |
- |
1 |
12-112888151-TT-AG |
c.167_168delinsAG |
p.I56K |
Missense |
3/16 |
- |
1 |
12-112888151-TT-GG |
c.167_168delinsGG |
p.I56R |
Missense |
3/16 |
- |
1 |
12-112888150-AT-A |
c.168del |
p.Q57Rfs*32 |
Frameshift |
3/16 |
- |
1 |
12-112888152-T-A |
c.168T>A |
p.I56= |
Synonymous |
3/16 |
- |
1 |
12-112888152-T-C |
c.168T>C |
p.I56= |
Synonymous |
3/16 |
- |
1 |
12-112888152-T-G |
c.168T>G |
p.I56M |
Missense |
3/16 |
- |
1 |
12-112888153-C-A |
c.169C>A |
p.Q57K |
Missense |
3/16 |
- |
1 |
12-112888153-CA-AC |
c.169_170delinsAC |
p.Q57T |
Missense |
3/16 |
- |
1 |
12-112888153-CA-AT |
c.169_170delinsAT |
p.Q57M |
Missense |
3/16 |
- |
1 |
12-112888153-CAG-AAC |
c.169_171delinsAAC |
p.Q57N |
Missense |
3/16 |
- |
1 |
12-112888153-CAG-ATC |
c.169_171delinsATC |
p.Q57I |
Missense |
3/16 |
- |
1 |
12-112888153-CA-GC |
c.169_170delinsGC |
p.Q57A |
Missense |
3/16 |
- |
1 |
12-112888153-CA-GG |
c.169_170delinsGG |
p.Q57G |
Missense |
3/16 |
- |
1 |
12-112888153-CAG-GAC |
c.169_171delinsGAC |
p.Q57D |
Missense |
3/16 |
- |
1 |
12-112888153-CA-GT |
c.169_170delinsGT |
p.Q57V |
Missense |
3/16 |
- |
1 |
12-112888153-CAG-TAT |
c.169_171delinsTAT |
p.Q57Y |
Missense |
3/16 |
- |
1 |
12-112888153-CAG-TGT |
c.169_171delinsTGT |
p.Q57C |
Missense |
3/16 |
- |
1 |
12-112888153-CAG-TTT |
c.169_171delinsTTT |
p.Q57F |
Missense |
3/16 |
- |
1 |
12-112888153-CA-TC |
c.169_170delinsTC |
p.Q57S |
Missense |
3/16 |
- |
1 |
12-112888153-CA-TG |
c.169_170inv |
p.Q57W |
Missense |
3/16 |
- |
1 |
12-112888153-C-G |
c.169C>G |
p.Q57E |
Missense |
3/16 |
- |
3 |
12-112888153-C-T |
c.169C>T |
p.Q57* |
Nonsense |
3/16 |
- |
1 |
12-112888154-A-C |
c.170A>C |
p.Q57P |
Missense |
3/16 |
- |
1 |
12-112888154-A-G |
c.170A>G |
p.Q57R |
Missense |
3/16 |
- |
2 |
12-112888154-A-T |
c.170A>T |
p.Q57L |
Missense |
3/16 |
- |
1 |
12-112888155-G-A |
c.171G>A |
p.Q57= |
Synonymous |
3/16 |
- |
1 |
12-112888155-G-C |
c.171G>C |
p.Q57H |
Missense |
3/16 |
- |
4 |
12-112888155-G-T |
c.171G>T |
p.Q57H |
Missense |
3/16 |
- |
4 |
12-112888156-AA-CC |
c.172_173delinsCC |
p.N58P |
Missense |
3/16 |
- |
1 |
12-112888156-AAC-CAA |
c.172_174delinsCAA |
p.N58Q |
Missense |
3/16 |
- |
2 |
12-112888156-AAC-GAG |
c.172_174delinsGAG |
p.N58E |
Missense |
3/16 |
- |
1 |
12-112888156-AA-CT |
c.172_173delinsCT |
p.N58L |
Missense |
3/16 |
- |
1 |
12-112888156-AAC-TGG |
c.172_174delinsTGG |
p.N58W |
Missense |
3/16 |
- |
1 |
12-112888156-AA-GC |
c.172_173delinsGC |
p.N58A |
Missense |
3/16 |
- |
2 |
12-112888156-AA-GG |
c.172_173delinsGG |
p.N58G |
Missense |
3/16 |
- |
1 |
12-112888156-AA-GT |
c.172_173delinsGT |
p.N58V |
Missense |
3/16 |
- |
1 |
12-112888156-AA-TG |
c.172_173delinsTG |
p.N58C |
Missense |
3/16 |
- |
1 |
12-112888156-AA-TT |
c.172_173inv |
p.N58F |
Missense |
3/16 |
- |
1 |
12-112888156-A-C |
c.172A>C |
p.N58H |
Missense |
3/16 |
- |
16 |
12-112888156-A-G |
c.172A>G |
p.N58D |
Missense |
3/16 |
- |
35 |
12-112888156-A-T |
c.172A>T |
p.N58Y |
Missense |
3/16 |
- |
26 |
12-112888157-A-C |
c.173A>C |
p.N58T |
Missense |
3/16 |
- |
1 |
12-112888157-AC-GG |
c.173_174delinsGG |
p.N58R |
Missense |
3/16 |
- |
1 |
12-112888157-AC-TG |
c.173_174delinsTG |
p.N58M |
Missense |
3/16 |
- |
1 |
12-112888157-A-G |
c.173A>G |
p.N58S |
Missense |
3/16 |
- |
29 |
12-112888157-A-T |
c.173A>T |
p.N58I |
Missense |
3/16 |
- |
3 |
12-112888158-C-A |
c.174C>A |
p.N58K |
Missense |
3/16 |
- |
23 |
12-112888158-C-G |
c.174C>G |
p.N58K |
Missense |
3/16 |
- |
29 |
12-112888158-C-T |
c.174C>T |
p.N58= |
Synonymous |
3/16 |
- |
1 |
12-112888159-A-C |
c.175A>C |
p.T59P |
Missense |
3/16 |
- |
1 |
12-112888159-AC-CA |
c.175_176delinsCA |
p.T59H |
Missense |
3/16 |
- |
1 |
12-112888159-AC-CT |
c.175_176delinsCT |
p.T59L |
Missense |
3/16 |
- |
1 |
12-112888159-AC-GA |
c.175_176delinsGA |
p.T59D |
Missense |
3/16 |
- |
1 |
12-112888159-AC-GG |
c.175_176delinsGG |
p.T59G |
Missense |
3/16 |
- |
1 |
12-112888159-AC-GT |
c.175_176inv |
p.T59V |
Missense |
3/16 |
- |
1 |
12-112888159-AC-TA |
c.175_176delinsTA |
p.T59Y |
Missense |
3/16 |
- |
1 |
12-112888159-ACT-CAA |
c.175_177delinsCAA |
p.T59Q |
Missense |
3/16 |
- |
1 |
12-112888159-AC-TG |
c.175_176delinsTG |
p.T59C |
Missense |
3/16 |
- |
1 |
12-112888159-ACT-GAG |
c.175_177delinsGAG |
p.T59E |
Missense |
3/16 |
- |
1 |
12-112888159-AC-TT |
c.175_176delinsTT |
p.T59F |
Missense |
3/16 |
- |
1 |
12-112888159-ACT-TGG |
c.175_177delinsTGG |
p.T59W |
Missense |
3/16 |
- |
1 |
12-112888159-A-G |
c.175A>G |
p.T59A |
Missense |
3/16 |
- |
11 |
12-112888159-CACT-C |
c.175_177del |
p.T59del |
InFrameDeletion |
3/16 |
- |
1 |
12-112888159-A-AC |
c.176dup |
p.G60Wfs*2 |
Frameshift |
3/16 |
- |
1 |
12-112888159-A-T |
c.175A>T |
p.T59S |
Missense |
3/16 |
- |
2 |
12-112888160-C-A |
c.176C>A |
p.T59N |
Missense |
3/16 |
- |
1 |
12-112888160-C-G |
c.176C>G |
p.T59S |
Missense |
3/16 |
- |
2 |
12-112888160-C-T |
c.176C>T |
p.T59I |
Missense |
3/16 |
- |
2 |
12-112888160-CT-AG |
c.176_177inv |
p.T59K |
Missense |
3/16 |
- |
1 |
12-112888160-CT-GG |
c.176_177delinsGG |
p.T59R |
Missense |
3/16 |
- |
1 |
12-112888160-CT-TG |
c.176_177delinsTG |
p.T59M |
Missense |
3/16 |
- |
1 |
12-112888161-T-A |
c.177T>A |
p.T59= |
Synonymous |
3/16 |
- |
1 |
12-112888161-T-C |
c.177T>C |
p.T59= |
Synonymous |
3/16 |
- |
2 |
12-112888161-T-G |
c.177T>G |
p.T59= |
Synonymous |
3/16 |
- |
1 |
12-112888162-G-A |
c.178G>A |
p.G60S |
Missense |
3/16 |
- |
10 |
12-112888162-G-C |
c.178G>C |
p.G60R |
Missense |
3/16 |
- |
43 |
12-112888162-GG-AA |
c.178_179delinsAA |
p.G60N |
Missense |
3/16 |
- |
1 |
12-112888162-GG-AC |
c.178_179delinsAC |
p.G60T |
Missense |
3/16 |
- |
1 |
12-112888162-GG-AT |
c.178_179delinsAT |
p.G60I |
Missense |
3/16 |
- |
2 |
12-112888162-GG-CA |
c.178_179delinsCA |
p.G60H |
Missense |
3/16 |
- |
1 |
12-112888162-GG-CC |
c.178_179inv |
p.G60P |
Missense |
3/16 |
- |
1 |
12-112888162-GG-CT |
c.178_179delinsCT |
p.G60L |
Missense |
3/16 |
- |
1 |
12-112888162-GG-TA |
c.178_179delinsTA |
p.G60Y |
Missense |
3/16 |
- |
1 |
12-112888162-GGT-AAG |
c.178_180delinsAAG |
p.G60K |
Missense |
3/16 |
- |
1 |
12-112888162-GGT-ATG |
c.178_180delinsATG |
p.G60M |
Missense |
3/16 |
- |
1 |
12-112888162-GGT-CAA |
c.178_180delinsCAA |
p.G60Q |
Missense |
3/16 |
- |
1 |
12-112888162-GG-TT |
c.178_179delinsTT |
p.G60F |
Missense |
3/16 |
- |
1 |
12-112888162-GGT-TGG |
c.178_180delinsTGG |
p.G60W |
Missense |
3/16 |
- |
1 |
12-112888162-G-T |
c.178G>T |
p.G60C |
Missense |
3/16 |
- |
12 |
12-112888160-CTGG-C |
c.179_181del |
p.G60del |
InFrameDeletion |
3/16 |
- |
4 |
12-112888163-G-A |
c.179G>A |
p.G60D |
Missense |
3/16 |
- |
3 |
12-112888163-G-C |
c.179G>C |
p.G60A |
Missense |
3/16 |
- |
47 |
12-112888163-G-T |
c.179G>T |
p.G60V |
Missense |
3/16 |
- |
78 |
12-112888163-GT-AG |
c.179_180delinsAG |
p.G60E |
Missense |
3/16 |
- |
4 |
12-112888163-GTGA-T |
c.179_182delinsT |
p.G60_D61delinsV |
MultiAAMissense |
3/16 |
- |
1 |
12-112888164-TG-AA |
c.180_181delinsAA |
p.D61N |
Missense |
3/16 |
- |
1 |
12-112888163-GTGA-G |
c.181_183del |
p.D61del |
InFrameDeletion |
3/16 |
- |
7 |
12-112888165-G-A |
c.181G>A |
p.D61N |
Missense |
3/16 |
- |
68 |
12-112888165-GA-AC |
c.181_182delinsAC |
p.D61T |
Missense |
3/16 |
- |
1 |
12-112888165-GA-AG |
c.181_182delinsAG |
p.D61S |
Missense |
3/16 |
- |
1 |
12-112888165-GA-AT |
c.181_182delinsAT |
p.D61I |
Missense |
3/16 |
- |
1 |
12-112888165-GA-CC |
c.181_182delinsCC |
p.D61P |
Missense |
3/16 |
- |
1 |
12-112888165-GA-CG |
c.181_182delinsCG |
p.D61R |
Missense |
3/16 |
- |
1 |
12-112888165-GA-CT |
c.181_182delinsCT |
p.D61L |
Missense |
3/16 |
- |
1 |
12-112888165-GAT-AAG |
c.181_183delinsAAG |
p.D61K |
Missense |
3/16 |
- |
1 |
12-112888165-GAT-ATG |
c.181_183delinsATG |
p.D61M |
Missense |
3/16 |
- |
1 |
12-112888165-GAT-CAA |
c.181_183delinsCAA |
p.D61Q |
Missense |
3/16 |
- |
1 |
12-112888165-GA-TG |
c.181_182delinsTG |
p.D61C |
Missense |
3/16 |
- |
1 |
12-112888165-GA-TT |
c.181_182delinsTT |
p.D61F |
Missense |
3/16 |
- |
1 |
12-112888165-GAT-TGG |
c.181_183delinsTGG |
p.D61W |
Missense |
3/16 |
- |
1 |
12-112888165-G-C |
c.181G>C |
p.D61H |
Missense |
3/16 |
- |
32 |
12-112888165-G-T |
c.181G>T |
p.D61Y |
Missense |
3/16 |
- |
168 |
12-112888166-A-C |
c.182A>C |
p.D61A |
Missense |
3/16 |
- |
43 |
12-112888166-A-G |
c.182A>G |
p.D61G |
Missense |
3/16 |
- |
175 |
12-112888166-A-T |
c.182A>T |
p.D61V |
Missense |
3/16 |
- |
78 |
12-112888165-GATT-G |
c.183_185del |
p.Y63del |
InFrameDeletion |
3/16 |
- |
1 |
12-112888167-T-A |
c.183T>A |
p.D61E |
Missense |
3/16 |
- |
2 |
12-112888167-T-G |
c.183T>G |
p.D61E |
Missense |
3/16 |
- |
1 |
12-112888166-AT-A |
c.184del |
p.Y62Tfs*27 |
Frameshift |
3/16 |
- |
1 |
12-112888168-T-A |
c.184T>A |
p.Y62N |
Missense |
3/16 |
- |
10 |
12-112888168-TA-AC |
c.184_185delinsAC |
p.Y62T |
Missense |
3/16 |
- |
1 |
12-112888168-TA-AT |
c.184_185delinsAT |
p.Y62I |
Missense |
3/16 |
- |
1 |
12-112888168-TAC-AAG |
c.184_186delinsAAG |
p.Y62K |
Missense |
3/16 |
- |
1 |
12-112888168-TAC-ATG |
c.184_186delinsATG |
p.Y62M |
Missense |
3/16 |
- |
1 |
12-112888168-TA-CC |
c.184_185delinsCC |
p.Y62P |
Missense |
3/16 |
- |
1 |
12-112888168-TAC-CAA |
c.184_186delinsCAA |
p.Y62Q |
Missense |
3/16 |
- |
1 |
12-112888168-TA-CG |
c.184_185delinsCG |
p.Y62R |
Missense |
3/16 |
- |
1 |
12-112888168-TAC-GAG |
c.184_186delinsGAG |
p.Y62E |
Missense |
3/16 |
- |
3 |
12-112888168-TA-CT |
c.184_185delinsCT |
p.Y62L |
Missense |
3/16 |
- |
1 |
12-112888168-TA-GC |
c.184_185delinsGC |
p.Y62A |
Missense |
3/16 |
- |
1 |
12-112888168-TA-GG |
c.184_185delinsGG |
p.Y62G |
Missense |
3/16 |
- |
1 |
12-112888168-TA-GT |
c.184_185delinsGT |
p.Y62V |
Missense |
3/16 |
- |
1 |
12-112888168-T-C |
c.184T>C |
p.Y62H |
Missense |
3/16 |
- |
5 |
12-112888168-T-G |
c.184T>G |
p.Y62D |
Missense |
3/16 |
- |
60 |
12-112888169-A-C |
c.185A>C |
p.Y62S |
Missense |
3/16 |
- |
2 |
12-112888169-AC-GG |
c.185_186delinsGG |
p.Y62W |
Missense |
3/16 |
- |
1 |
12-112888169-A-G |
c.185A>G |
p.Y62C |
Missense |
3/16 |
- |
7 |
12-112888169-A-T |
c.185A>T |
p.Y62F |
Missense |
3/16 |
- |
4 |
12-112888167-TTAC-T |
c.186_188del |
p.Y63del |
InFrameDeletion |
3/16 |
- |
2 |
12-112888170-C-A |
c.186C>A |
p.Y62* |
Nonsense |
3/16 |
- |
3 |
12-112888170-C-G |
c.186C>G |
p.Y62* |
Nonsense |
3/16 |
- |
3 |
12-112888170-C-T |
c.186C>T |
p.Y62= |
Synonymous |
3/16 |
- |
2 |
12-112888171-T-A |
c.187T>A |
p.Y63N |
Missense |
3/16 |
- |
2 |
12-112888171-TA-AC |
c.187_188delinsAC |
p.Y63T |
Missense |
3/16 |
- |
1 |
12-112888171-TA-AT |
c.187_188delinsAT |
p.Y63I |
Missense |
3/16 |
- |
1 |
12-112888171-TA-CC |
c.187_188delinsCC |
p.Y63P |
Missense |
3/16 |
- |
1 |
12-112888171-TA-CG |
c.187_188delinsCG |
p.Y63R |
Missense |
3/16 |
- |
1 |
12-112888171-TA-CT |
c.187_188delinsCT |
p.Y63L |
Missense |
3/16 |
- |
1 |
12-112888171-TA-GC |
c.187_188delinsGC |
p.Y63A |
Missense |
3/16 |
- |
1 |
12-112888171-TA-GG |
c.187_188delinsGG |
p.Y63G |
Missense |
3/16 |
- |
1 |
12-112888171-TA-GT |
c.187_188delinsGT |
p.Y63V |
Missense |
3/16 |
- |
1 |
12-112888171-TAT-AAG |
c.187_189delinsAAG |
p.Y63K |
Missense |
3/16 |
- |
1 |
12-112888171-TAT-ATG |
c.187_189delinsATG |
p.Y63M |
Missense |
3/16 |
- |
1 |
12-112888171-TAT-CAA |
c.187_189delinsCAA |
p.Y63Q |
Missense |
3/16 |
- |
1 |
12-112888171-TAT-GAG |
c.187_189delinsGAG |
p.Y63E |
Missense |
3/16 |
- |
1 |
12-112888171-T-C |
c.187T>C |
p.Y63H |
Missense |
3/16 |
- |
2 |
12-112888171-T-G |
c.187T>G |
p.Y63D |
Missense |
3/16 |
- |
2 |
12-112888172-A-C |
c.188A>C |
p.Y63S |
Missense |
3/16 |
- |
2 |
12-112888172-A-G |
c.188A>G |
p.Y63C |
Missense |
3/16 |
- |
84 |
12-112888172-A-T |
c.188A>T |
p.Y63F |
Missense |
3/16 |
- |
7 |
12-112888172-AT-GG |
c.188_189delinsGG |
p.Y63W |
Missense |
3/16 |
- |
1 |
12-112888173-T-A |
c.189T>A |
p.Y63* |
Nonsense |
3/16 |
- |
2 |
12-112888173-T-C |
c.189T>C |
p.Y63= |
Synonymous |
3/16 |
- |
2 |
12-112888173-T-G |
c.189T>G |
p.Y63* |
Nonsense |
3/16 |
- |
2 |
12-112888174-G-A |
c.190G>A |
p.D64N |
Missense |
3/16 |
- |
2 |
12-112888174-GA-AC |
c.190_191delinsAC |
p.D64T |
Missense |
3/16 |
- |
1 |
12-112888174-GA-AG |
c.190_191delinsAG |
p.D64S |
Missense |
3/16 |
- |
1 |
12-112888174-GA-AT |
c.190_191delinsAT |
p.D64I |
Missense |
3/16 |
- |
1 |
12-112888174-GAC-AAG |
c.190_192delinsAAG |
p.D64K |
Missense |
3/16 |
- |
1 |
12-112888174-GAC-ATG |
c.190_192delinsATG |
p.D64M |
Missense |
3/16 |
- |
1 |
12-112888174-GA-CC |
c.190_191delinsCC |
p.D64P |
Missense |
3/16 |
- |
1 |
12-112888174-GAC-CAA |
c.190_192delinsCAA |
p.D64Q |
Missense |
3/16 |
- |
1 |
12-112888174-GAC-CTTGAGGAGCTTGCAGAG |
c.190_192delinsCTTGAGGAGCTTGCAGAG |
p.D64delinsLEELAE |
MultiAAMissense |
3/16 |
- |
1 |
12-112888174-GA-CG |
c.190_191delinsCG |
p.D64R |
Missense |
3/16 |
- |
1 |
12-112888174-GA-CT |
c.190_191delinsCT |
p.D64L |
Missense |
3/16 |
- |
1 |
12-112888174-GAC-TGG |
c.190_192delinsTGG |
p.D64W |
Missense |
3/16 |
- |
1 |
12-112888174-GA-TG |
c.190_191delinsTG |
p.D64C |
Missense |
3/16 |
- |
1 |
12-112888174-GA-TT |
c.190_191delinsTT |
p.D64F |
Missense |
3/16 |
- |
1 |
12-112888174-G-C |
c.190G>C |
p.D64H |
Missense |
3/16 |
- |
1 |
12-112888174-G-T |
c.190G>T |
p.D64Y |
Missense |
3/16 |
- |
1 |
12-112888175-A-C |
c.191A>C |
p.D64A |
Missense |
3/16 |
- |
1 |
12-112888175-A-G |
c.191A>G |
p.D64G |
Missense |
3/16 |
- |
2 |
12-112888175-A-T |
c.191A>T |
p.D64V |
Missense |
3/16 |
- |
3 |
12-112888176-C-A |
c.192C>A |
p.D64E |
Missense |
3/16 |
- |
1 |
12-112888176-C-G |
c.192C>G |
p.D64E |
Missense |
3/16 |
- |
1 |
12-112888177-C-A |
c.193C>A |
p.L65M |
Missense |
3/16 |
- |
1 |
12-112888177-C-G |
c.193C>G |
p.L65V |
Missense |
3/16 |
- |
1 |
12-112888177-CT-AA |
c.193_194delinsAA |
p.L65K |
Missense |
3/16 |
- |
1 |
12-112888177-CT-AC |
c.193_194delinsAC |
p.L65T |
Missense |
3/16 |
- |
1 |
12-112888177-CT-GA |
c.193_194delinsGA |
p.L65E |
Missense |
3/16 |
- |
1 |
12-112888177-CTG-AAC |
c.193_195delinsAAC |
p.L65N |
Missense |
3/16 |
- |
1 |
12-112888177-CTG-ATC |
c.193_195delinsATC |
p.L65I |
Missense |
3/16 |
- |
1 |
12-112888177-CT-GC |
c.193_194delinsGC |
p.L65A |
Missense |
3/16 |
- |
3 |
12-112888177-CT-GG |
c.193_194delinsGG |
p.L65G |
Missense |
3/16 |
- |
1 |
12-112888177-CTG-GAC |
c.193_195delinsGAC |
p.L65D |
Missense |
3/16 |
- |
1 |
12-112888177-CTG-TAT |
c.193_195delinsTAT |
p.L65Y |
Missense |
3/16 |
- |
1 |
12-112888177-CTG-TGT |
c.193_195delinsTGT |
p.L65C |
Missense |
3/16 |
- |
1 |
12-112888177-CTG-TTT |
c.193_195delinsTTT |
p.L65F |
Missense |
3/16 |
- |
1 |
12-112888177-CT-TC |
c.193_194delinsTC |
p.L65S |
Missense |
3/16 |
- |
1 |
12-112888177-CT-TG |
c.193_194delinsTG |
p.L65W |
Missense |
3/16 |
- |
1 |
12-112888178-T-A |
c.194T>A |
p.L65Q |
Missense |
3/16 |
- |
1 |
12-112888178-T-C |
c.194T>C |
p.L65P |
Missense |
3/16 |
- |
2 |
12-112888178-T-G |
c.194T>G |
p.L65R |
Missense |
3/16 |
- |
1 |
12-112888178-TG-AT |
c.194_195delinsAT |
p.L65H |
Missense |
3/16 |
- |
1 |
12-112888177-C-T |
c.193C>T |
p.L65= |
Synonymous |
3/16 |
- |
3 |
12-112888179-G-A |
c.195G>A |
p.L65= |
Synonymous |
3/16 |
- |
2 |
12-112888179-G-C |
c.195G>C |
p.L65= |
Synonymous |
3/16 |
- |
2 |
12-112888179-G-T |
c.195G>T |
p.L65= |
Synonymous |
3/16 |
- |
2 |
12-112888179-TG-T |
c.195del |
p.Y66Mfs*23 |
Frameshift |
3/16 |
- |
1 |
12-112888180-T-A |
c.196T>A |
p.Y66N |
Missense |
3/16 |
- |
1 |
12-112888180-TA-AC |
c.196_197delinsAC |
p.Y66T |
Missense |
3/16 |
- |
1 |
12-112888180-TA-AT |
c.196_197delinsAT |
p.Y66I |
Missense |
3/16 |
- |
1 |
12-112888180-TA-CC |
c.196_197delinsCC |
p.Y66P |
Missense |
3/16 |
- |
1 |
12-112888180-TA-CG |
c.196_197delinsCG |
p.Y66R |
Missense |
3/16 |
- |
1 |
12-112888180-TA-CT |
c.196_197delinsCT |
p.Y66L |
Missense |
3/16 |
- |
1 |
12-112888180-TA-GC |
c.196_197delinsGC |
p.Y66A |
Missense |
3/16 |
- |
1 |
12-112888180-TA-GG |
c.196_197delinsGG |
p.Y66G |
Missense |
3/16 |
- |
2 |
12-112888180-TA-GT |
c.196_197delinsGT |
p.Y66V |
Missense |
3/16 |
- |
1 |
12-112888180-TAT-AAG |
c.196_198delinsAAG |
p.Y66K |
Missense |
3/16 |
- |
1 |
12-112888180-TAT-ATG |
c.196_198delinsATG |
p.Y66M |
Missense |
3/16 |
- |
1 |
12-112888180-TAT-CAA |
c.196_198delinsCAA |
p.Y66Q |
Missense |
3/16 |
- |
1 |
12-112888180-TAT-GAG |
c.196_198delinsGAG |
p.Y66E |
Missense |
3/16 |
- |
1 |
12-112888180-T-C |
c.196T>C |
p.Y66H |
Missense |
3/16 |
- |
1 |
12-112888180-T-G |
c.196T>G |
p.Y66D |
Missense |
3/16 |
- |
1 |
12-112888180-T-TAGAAAGAGGAGGAGG |
c.197_198insGAAAGAGGAGGAGGA |
p.Y66delins* |
Nonsense |
3/16 |
- |
1 |
12-112888181-A-C |
c.197A>C |
p.Y66S |
Missense |
3/16 |
- |
1 |
12-112888181-A-G |
c.197A>G |
p.Y66C |
Missense |
3/16 |
- |
1 |
12-112888181-A-T |
c.197A>T |
p.Y66F |
Missense |
3/16 |
- |
1 |
12-112888181-AT-GG |
c.197_198delinsGG |
p.Y66W |
Missense |
3/16 |
- |
1 |
12-112888183-G-A |
c.199G>A |
p.G67R |
Missense |
3/16 |
- |
2 |
12-112888183-G-C |
c.199G>C |
p.G67R |
Missense |
3/16 |
- |
2 |
12-112888183-GG-AA |
c.199_200delinsAA |
p.G67K |
Missense |
3/16 |
- |
1 |
12-112888183-GGA-AAC |
c.199_201delinsAAC |
p.G67N |
Missense |
3/16 |
- |
1 |
12-112888183-GGA-AGC |
c.199_201delinsAGC |
p.G67S |
Missense |
3/16 |
- |
1 |
12-112888183-GGA-ATG |
c.199_201delinsATG |
p.G67M |
Missense |
3/16 |
- |
1 |
12-112888183-GG-AC |
c.199_200delinsAC |
p.G67T |
Missense |
3/16 |
- |
1 |
12-112888183-GGA-CAT |
c.199_201delinsCAT |
p.G67H |
Missense |
3/16 |
- |
1 |
12-112888183-GG-AT |
c.199_200delinsAT |
p.G67I |
Missense |
3/16 |
- |
1 |
12-112888183-GGA-TAT |
c.199_201delinsTAT |
p.G67Y |
Missense |
3/16 |
- |
1 |
12-112888183-GGA-TGG |
c.199_201delinsTGG |
p.G67W |
Missense |
3/16 |
- |
1 |
12-112888183-GGA-TGT |
c.199_201delinsTGT |
p.G67C |
Missense |
3/16 |
- |
1 |
12-112888183-GGA-TTT |
c.199_201delinsTTT |
p.G67F |
Missense |
3/16 |
- |
1 |
12-112888183-GG-CA |
c.199_200delinsCA |
p.G67Q |
Missense |
3/16 |
- |
1 |
12-112888183-GG-CC |
c.199_200inv |
p.G67P |
Missense |
3/16 |
- |
1 |
12-112888183-GG-CT |
c.199_200delinsCT |
p.G67L |
Missense |
3/16 |
- |
1 |
12-112888183-G-T |
c.199G>T |
p.G67* |
Nonsense |
3/16 |
- |
1 |
12-112888184-G-A |
c.200G>A |
p.G67E |
Missense |
3/16 |
- |
2 |
12-112888184-GA-AC |
c.200_201delinsAC |
p.G67D |
Missense |
3/16 |
- |
1 |
12-112888184-G-C |
c.200G>C |
p.G67A |
Missense |
3/16 |
- |
4 |
12-112888184-G-T |
c.200G>T |
p.G67V |
Missense |
3/16 |
- |
1 |
12-112888186-G-A |
c.202G>A |
p.G68R |
Missense |
3/16 |
- |
2 |
12-112888186-G-C |
c.202G>C |
p.G68R |
Missense |
3/16 |
- |
1 |
12-112888186-GG-AA |
c.202_203delinsAA |
p.G68K |
Missense |
3/16 |
- |
1 |
12-112888186-GG-AC |
c.202_203delinsAC |
p.G68T |
Missense |
3/16 |
- |
1 |
12-112888186-GG-AT |
c.202_203delinsAT |
p.G68M |
Missense |
3/16 |
- |
1 |
12-112888186-GG-CA |
c.202_203delinsCA |
p.G68Q |
Missense |
3/16 |
- |
1 |
12-112888186-GG-CC |
c.202_203inv |
p.G68P |
Missense |
3/16 |
- |
1 |
12-112888186-GG-CT |
c.202_203delinsCT |
p.G68L |
Missense |
3/16 |
- |
1 |
12-112888186-GGG-AAC |
c.202_204delinsAAC |
p.G68N |
Missense |
3/16 |
- |
2 |
12-112888186-GGG-AGC |
c.202_204delinsAGC |
p.G68S |
Missense |
3/16 |
- |
1 |
12-112888186-GGG-ATC |
c.202_204delinsATC |
p.G68I |
Missense |
3/16 |
- |
1 |
12-112888186-GGG-CAT |
c.202_204delinsCAT |
p.G68H |
Missense |
3/16 |
- |
1 |
12-112888186-GGG-TAT |
c.202_204delinsTAT |
p.G68Y |
Missense |
3/16 |
- |
1 |
12-112888186-GGG-TGT |
c.202_204delinsTGT |
p.G68C |
Missense |
3/16 |
- |
1 |
12-112888186-GGG-TTT |
c.202_204delinsTTT |
p.G68F |
Missense |
3/16 |
- |
1 |
12-112888186-G-T |
c.202G>T |
p.G68W |
Missense |
3/16 |
- |
2 |
12-112888187-G-A |
c.203G>A |
p.G68E |
Missense |
3/16 |
- |
4 |
12-112888187-G-C |
c.203G>C |
p.G68A |
Missense |
3/16 |
- |
1 |
12-112888187-GG-AC |
c.203_204delinsAC |
p.G68D |
Missense |
3/16 |
- |
1 |
12-112888187-G-T |
c.203G>T |
p.G68V |
Missense |
3/16 |
- |
1 |
12-112888188-G-A |
c.204G>A |
p.G68= |
Synonymous |
3/16 |
- |
1 |
12-112888185-AG-A |
c.205del |
p.E69Rfs*20 |
Frameshift |
3/16 |
- |
1 |
12-112888189-G-A |
c.205G>A |
p.E69K |
Missense |
3/16 |
- |
123 |
12-112888189-GA-AC |
c.205_206delinsAC |
p.E69T |
Missense |
3/16 |
- |
1 |
12-112888189-GA-AG |
c.205_206delinsAG |
p.E69R |
Missense |
3/16 |
- |
1 |
12-112888189-GA-AT |
c.205_206delinsAT |
p.E69M |
Missense |
3/16 |
- |
1 |
12-112888189-GA-CC |
c.205_206delinsCC |
p.E69P |
Missense |
3/16 |
- |
1 |
12-112888189-GA-CT |
c.205_206delinsCT |
p.E69L |
Missense |
3/16 |
- |
1 |
12-112888189-GAG-AAC |
c.205_207delinsAAC |
p.E69N |
Missense |
3/16 |
- |
1 |
12-112888189-GAG-ATC |
c.205_207delinsATC |
p.E69I |
Missense |
3/16 |
- |
1 |
12-112888189-GAG-CAT |
c.205_207delinsCAT |
p.E69H |
Missense |
3/16 |
- |
1 |
12-112888189-GAG-TAT |
c.205_207delinsTAT |
p.E69Y |
Missense |
3/16 |
- |
1 |
12-112888189-GAG-TGT |
c.205_207delinsTGT |
p.E69C |
Missense |
3/16 |
- |
1 |
12-112888189-GAG-TTT |
c.205_207delinsTTT |
p.E69F |
Missense |
3/16 |
- |
2 |
12-112888189-GA-TC |
c.205_206inv |
p.E69S |
Missense |
3/16 |
- |
1 |
12-112888189-GA-TG |
c.205_206delinsTG |
p.E69W |
Missense |
3/16 |
- |
1 |
12-112888189-G-C |
c.205G>C |
p.E69Q |
Missense |
3/16 |
- |
24 |
12-112888190-A-C |
c.206A>C |
p.E69A |
Missense |
3/16 |
- |
2 |
12-112888190-A-G |
c.206A>G |
p.E69G |
Missense |
3/16 |
- |
8 |
12-112888190-A-T |
c.206A>T |
p.E69V |
Missense |
3/16 |
- |
14 |
12-112888191-G-C |
c.207G>C |
p.E69D |
Missense |
3/16 |
- |
5 |
12-112888191-G-T |
c.207G>T |
p.E69D |
Missense |
3/16 |
- |
8 |
12-112888192-AAA-CAT |
c.208_210delinsCAT |
p.K70H |
Missense |
3/16 |
- |
1 |
12-112888192-AAA-GAC |
c.208_210delinsGAC |
p.K70D |
Missense |
3/16 |
- |
1 |
12-112888192-AAA-TAT |
c.208_210delinsTAT |
p.K70Y |
Missense |
3/16 |
- |
1 |
12-112888192-AAA-TGG |
c.208_210delinsTGG |
p.K70W |
Missense |
3/16 |
- |
1 |
12-112888192-AAA-TGT |
c.208_210delinsTGT |
p.K70C |
Missense |
3/16 |
- |
1 |
12-112888192-AAA-TTT |
c.208_210inv |
p.K70F |
Missense |
3/16 |
- |
1 |
12-112888192-AA-CC |
c.208_209delinsCC |
p.K70P |
Missense |
3/16 |
- |
1 |
12-112888192-AA-CT |
c.208_209delinsCT |
p.K70L |
Missense |
3/16 |
- |
1 |
12-112888192-AA-GC |
c.208_209delinsGC |
p.K70A |
Missense |
3/16 |
- |
2 |
12-112888192-AA-GG |
c.208_209delinsGG |
p.K70G |
Missense |
3/16 |
- |
1 |
12-112888192-AA-GT |
c.208_209delinsGT |
p.K70V |
Missense |
3/16 |
- |
1 |
12-112888192-A-C |
c.208A>C |
p.K70Q |
Missense |
3/16 |
- |
1 |
12-112888192-A-G |
c.208A>G |
p.K70E |
Missense |
3/16 |
- |
2 |
12-112888192-A-T |
c.208A>T |
p.K70* |
Nonsense |
3/16 |
- |
2 |
12-112888193-AA-GC |
c.209_210delinsGC |
p.K70S |
Missense |
3/16 |
- |
1 |
12-112888193-AA-TG |
c.209_210delinsTG |
p.K70M |
Missense |
3/16 |
- |
1 |
12-112888193-A-C |
c.209A>C |
p.K70T |
Missense |
3/16 |
- |
1 |
12-112888193-A-G |
c.209A>G |
p.K70R |
Missense |
3/16 |
- |
12 |
12-112888193-A-T |
c.209A>T |
p.K70I |
Missense |
3/16 |
- |
1 |
12-112888194-A-C |
c.210A>C |
p.K70N |
Missense |
3/16 |
- |
1 |
12-112888194-A-G |
c.210A>G |
p.K70= |
Synonymous |
3/16 |
- |
1 |
12-112888194-A-T |
c.210A>T |
p.K70N |
Missense |
3/16 |
- |
1 |
12-112888195-T-A |
c.211T>A |
p.F71I |
Missense |
3/16 |
- |
9 |
12-112888195-T-C |
c.211T>C |
p.F71L |
Missense |
3/16 |
- |
58 |
12-112888195-T-G |
c.211T>G |
p.F71V |
Missense |
3/16 |
- |
8 |
12-112888195-TT-AA |
c.211_212inv |
p.F71N |
Missense |
3/16 |
- |
1 |
12-112888195-TT-AC |
c.211_212delinsAC |
p.F71T |
Missense |
3/16 |
- |
1 |
12-112888195-TT-CA |
c.211_212delinsCA |
p.F71H |
Missense |
3/16 |
- |
1 |
12-112888195-TT-CC |
c.211_212delinsCC |
p.F71P |
Missense |
3/16 |
- |
1 |
12-112888195-TT-CG |
c.211_212delinsCG |
p.F71R |
Missense |
3/16 |
- |
1 |
12-112888195-TT-GA |
c.211_212delinsGA |
p.F71D |
Missense |
3/16 |
- |
1 |
12-112888195-TT-GC |
c.211_212delinsGC |
p.F71A |
Missense |
3/16 |
- |
3 |
12-112888195-TT-GG |
c.211_212delinsGG |
p.F71G |
Missense |
3/16 |
- |
1 |
12-112888195-TTT-AAG |
c.211_213delinsAAG |
p.F71K |
Missense |
3/16 |
- |
8 |
12-112888195-TTT-ATG |
c.211_213delinsATG |
p.F71M |
Missense |
3/16 |
- |
1 |
12-112888195-TTT-CAA |
c.211_213delinsCAA |
p.F71Q |
Missense |
3/16 |
- |
1 |
12-112888195-TTT-GAG |
c.211_213delinsGAG |
p.F71E |
Missense |
3/16 |
- |
1 |
12-112888196-T-A |
c.212T>A |
p.F71Y |
Missense |
3/16 |
- |
1 |
12-112888196-T-C |
c.212T>C |
p.F71S |
Missense |
3/16 |
- |
2 |
12-112888196-T-G |
c.212T>G |
p.F71C |
Missense |
3/16 |
- |
3 |
12-112888196-TT-GG |
c.212_213delinsGG |
p.F71W |
Missense |
3/16 |
- |
1 |
12-112888194-A-AT |
c.213dup |
p.A72Cfs*5 |
Frameshift |
3/16 |
- |
1 |
12-112888194-AT-A |
c.213del |
p.F71Lfs*18 |
Frameshift |
3/16 |
- |
1 |
12-112888197-T-A |
c.213T>A |
p.F71L |
Missense |
3/16 |
- |
60 |
12-112888197-T-G |
c.213T>G |
p.F71L |
Missense |
3/16 |
- |
39 |
12-112888198-G-A |
c.214G>A |
p.A72T |
Missense |
3/16 |
- |
114 |
12-112888198-G-C |
c.214G>C |
p.A72P |
Missense |
3/16 |
- |
15 |
12-112888198-GC-AA |
c.214_215delinsAA |
p.A72N |
Missense |
3/16 |
- |
1 |
12-112888198-GC-AT |
c.214_215delinsAT |
p.A72I |
Missense |
3/16 |
- |
1 |
12-112888198-GC-CA |
c.214_215delinsCA |
p.A72H |
Missense |
3/16 |
- |
1 |
12-112888198-GCC-AAG |
c.214_216delinsAAG |
p.A72K |
Missense |
3/16 |
- |
1 |
12-112888198-GCC-ATG |
c.214_216delinsATG |
p.A72M |
Missense |
3/16 |
- |
1 |
12-112888198-GCC-CAA |
c.214_216delinsCAA |
p.A72Q |
Missense |
3/16 |
- |
1 |
12-112888198-GC-CG |
c.214_215delinsCG |
p.A72R |
Missense |
3/16 |
- |
1 |
12-112888198-GC-CT |
c.214_215delinsCT |
p.A72L |
Missense |
3/16 |
- |
1 |
12-112888198-GCC-TGG |
c.214_216delinsTGG |
p.A72W |
Missense |
3/16 |
- |
1 |
12-112888198-GC-TA |
c.214_215delinsTA |
p.A72Y |
Missense |
3/16 |
- |
1 |
12-112888198-GC-TG |
c.214_215delinsTG |
p.A72C |
Missense |
3/16 |
- |
2 |
12-112888198-GC-TT |
c.214_215delinsTT |
p.A72F |
Missense |
3/16 |
- |
1 |
12-112888198-G-T |
c.214G>T |
p.A72S |
Missense |
3/16 |
- |
47 |
12-112888199-C-A |
c.215C>A |
p.A72D |
Missense |
3/16 |
- |
57 |
12-112888199-CC-AG |
c.215_216delinsAG |
p.A72E |
Missense |
3/16 |
- |
3 |
12-112888199-C-G |
c.215C>G |
p.A72G |
Missense |
3/16 |
- |
38 |
12-112888199-C-T |
c.215C>T |
p.A72V |
Missense |
3/16 |
- |
114 |
12-112888200-C-A |
c.216C>A |
p.A72= |
Synonymous |
3/16 |
- |
1 |
12-112888200-C-G |
c.216C>G |
p.A72= |
Synonymous |
3/16 |
- |
1 |
12-112888200-C-T |
c.216C>T |
p.A72= |
Synonymous |
3/16 |
- |
2 |
12-112888201-A-C |
c.217A>C |
p.T73P |
Missense |
3/16 |
- |
4 |
12-112888201-AC-CA |
c.217_218delinsCA |
p.T73H |
Missense |
3/16 |
- |
1 |
12-112888201-AC-CT |
c.217_218delinsCT |
p.T73L |
Missense |
3/16 |
- |
5 |
12-112888201-AC-GA |
c.217_218delinsGA |
p.T73D |
Missense |
3/16 |
- |
1 |
12-112888201-AC-GG |
c.217_218delinsGG |
p.T73G |
Missense |
3/16 |
- |
1 |
12-112888201-AC-GT |
c.217_218inv |
p.T73V |
Missense |
3/16 |
- |
1 |
12-112888201-AC-TA |
c.217_218delinsTA |
p.T73Y |
Missense |
3/16 |
- |
1 |
12-112888201-ACT-CAA |
c.217_219delinsCAA |
p.T73Q |
Missense |
3/16 |
- |
1 |
12-112888201-AC-TG |
c.217_218delinsTG |
p.T73C |
Missense |
3/16 |
- |
1 |
12-112888201-ACT-GAG |
c.217_219delinsGAG |
p.T73E |
Missense |
3/16 |
- |
1 |
12-112888201-AC-TT |
c.217_218delinsTT |
p.T73F |
Missense |
3/16 |
- |
2 |
12-112888201-ACT-TGG |
c.217_219delinsTGG |
p.T73W |
Missense |
3/16 |
- |
1 |
12-112888201-A-G |
c.217A>G |
p.T73A |
Missense |
3/16 |
- |
5 |
12-112888201-A-T |
c.217A>T |
p.T73S |
Missense |
3/16 |
- |
4 |
12-112888202-C-A |
c.218C>A |
p.T73N |
Missense |
3/16 |
- |
2 |
12-112888202-C-G |
c.218C>G |
p.T73S |
Missense |
3/16 |
- |
3 |
12-112888202-C-T |
c.218C>T |
p.T73I |
Missense |
3/16 |
- |
106 |
12-112888202-CT-AG |
c.218_219inv |
p.T73K |
Missense |
3/16 |
- |
1 |
12-112888202-CT-GG |
c.218_219delinsGG |
p.T73R |
Missense |
3/16 |
- |
1 |
12-112888202-CT-TG |
c.218_219delinsTG |
p.T73M |
Missense |
3/16 |
- |
1 |
12-112888203-T-C |
c.219T>C |
p.T73= |
Synonymous |
3/16 |
- |
1 |
12-112888204-T-A |
c.220T>A |
p.L74M |
Missense |
3/16 |
- |
5 |
12-112888204-T-G |
c.220T>G |
p.L74V |
Missense |
3/16 |
- |
1 |
12-112888204-TT-AA |
c.220_221inv |
p.L74K |
Missense |
3/16 |
- |
1 |
12-112888204-TT-AC |
c.220_221delinsAC |
p.L74T |
Missense |
3/16 |
- |
1 |
12-112888204-TT-AG |
c.220_221delinsAG |
p.L74R |
Missense |
3/16 |
- |
1 |
12-112888204-TT-CA |
c.220_221delinsCA |
p.L74Q |
Missense |
3/16 |
- |
1 |
12-112888204-TT-CC |
c.220_221delinsCC |
p.L74P |
Missense |
3/16 |
- |
1 |
12-112888204-TT-GA |
c.220_221delinsGA |
p.L74E |
Missense |
3/16 |
- |
2 |
12-112888204-TTG-AAC |
c.220_222delinsAAC |
p.L74N |
Missense |
3/16 |
- |
1 |
12-112888204-TTG-ATC |
c.220_222delinsATC |
p.L74I |
Missense |
3/16 |
- |
1 |
12-112888204-TT-GC |
c.220_221delinsGC |
p.L74A |
Missense |
3/16 |
- |
3 |
12-112888204-TTG-CAT |
c.220_222delinsCAT |
p.L74H |
Missense |
3/16 |
- |
1 |
12-112888204-TT-GG |
c.220_221delinsGG |
p.L74G |
Missense |
3/16 |
- |
1 |
12-112888204-TTG-GAC |
c.220_222delinsGAC |
p.L74D |
Missense |
3/16 |
- |
1 |
12-112888202-C-CT |
c.221dup |
p.L74Ffs*3 |
Frameshift |
3/16 |
- |
1 |
12-112888202-CT-C |
c.221del |
p.L74Wfs*15 |
Frameshift |
3/16 |
- |
1 |
12-112888205-T-C |
c.221T>C |
p.L74S |
Missense |
3/16 |
- |
1 |
12-112888205-T-G |
c.221T>G |
p.L74W |
Missense |
3/16 |
- |
6 |
12-112888205-TG-AT |
c.221_222delinsAT |
p.L74Y |
Missense |
3/16 |
- |
1 |
12-112888205-TG-GT |
c.221_222delinsGT |
p.L74C |
Missense |
3/16 |
- |
1 |
12-112888206-G-C |
c.222G>C |
p.L74F |
Missense |
3/16 |
- |
3 |
12-112888206-G-T |
c.222G>T |
p.L74F |
Missense |
3/16 |
- |
3 |
12-112888205-TG-T |
c.223del |
p.A75Lfs*14 |
Frameshift |
3/16 |
- |
1 |
12-112888207-G-A |
c.223G>A |
p.A75T |
Missense |
3/16 |
- |
1 |
12-112888207-G-C |
c.223G>C |
p.A75P |
Missense |
3/16 |
- |
2 |
12-112888207-GC-AA |
c.223_224delinsAA |
p.A75N |
Missense |
3/16 |
- |
1 |
12-112888207-GC-AT |
c.223_224delinsAT |
p.A75I |
Missense |
3/16 |
- |
3 |
12-112888207-GC-CA |
c.223_224delinsCA |
p.A75H |
Missense |
3/16 |
- |
4 |
12-112888207-GC-CG |
c.223_224delinsCG |
p.A75R |
Missense |
3/16 |
- |
1 |
12-112888207-GC-CT |
c.223_224delinsCT |
p.A75L |
Missense |
3/16 |
- |
1 |
12-112888207-GC-TA |
c.223_224delinsTA |
p.A75Y |
Missense |
3/16 |
- |
1 |
12-112888207-GCT-AAG |
c.223_225delinsAAG |
p.A75K |
Missense |
3/16 |
- |
1 |
12-112888207-GCT-ATG |
c.223_225delinsATG |
p.A75M |
Missense |
3/16 |
- |
1 |
12-112888207-GCT-CAA |
c.223_225delinsCAA |
p.A75Q |
Missense |
3/16 |
- |
1 |
12-112888207-GC-TG |
c.223_224delinsTG |
p.A75C |
Missense |
3/16 |
- |
5 |
12-112888207-GC-TT |
c.223_224delinsTT |
p.A75F |
Missense |
3/16 |
- |
1 |
12-112888207-GCT-TAA |
c.223_225delinsTAA |
p.A75* |
Nonsense |
3/16 |
- |
1 |
12-112888207-GCT-TGG |
c.223_225delinsTGG |
p.A75W |
Missense |
3/16 |
- |
2 |
12-112888207-G-T |
c.223G>T |
p.A75S |
Missense |
3/16 |
- |
4 |
12-112888208-C-A |
c.224C>A |
p.A75D |
Missense |
3/16 |
- |
1 |
12-112888208-C-G |
c.224C>G |
p.A75G |
Missense |
3/16 |
- |
6 |
12-112888208-C-T |
c.224C>T |
p.A75V |
Missense |
3/16 |
- |
3 |
12-112888208-CT-AG |
c.224_225inv |
p.A75E |
Missense |
3/16 |
- |
4 |
12-112888208-C-CT |
c.225dup |
p.E76* |
Nonsense |
3/16 |
- |
1 |
12-112888209-T-A |
c.225T>A |
p.A75= |
Synonymous |
3/16 |
- |
1 |
12-112888209-T-C |
c.225T>C |
p.A75= |
Synonymous |
3/16 |
- |
1 |
12-112888209-T-G |
c.225T>G |
p.A75= |
Synonymous |
3/16 |
- |
1 |
12-112888210-G-A |
c.226G>A |
p.E76K |
Missense |
3/16 |
- |
287 |
12-112888210-GA-AC |
c.226_227delinsAC |
p.E76T |
Missense |
3/16 |
- |
1 |
12-112888210-GA-AG |
c.226_227delinsAG |
p.E76R |
Missense |
3/16 |
- |
1 |
12-112888210-GA-AT |
c.226_227delinsAT |
p.E76M |
Missense |
3/16 |
- |
4 |
12-112888210-GA-CC |
c.226_227delinsCC |
p.E76P |
Missense |
3/16 |
- |
1 |
12-112888210-GA-CT |
c.226_227delinsCT |
p.E76L |
Missense |
3/16 |
- |
1 |
12-112888210-GAG-AAC |
c.226_228delinsAAC |
p.E76N |
Missense |
3/16 |
- |
1 |
12-112888210-GAG-ATC |
c.226_228delinsATC |
p.E76I |
Missense |
3/16 |
- |
1 |
12-112888210-GAG-CAT |
c.226_228delinsCAT |
p.E76H |
Missense |
3/16 |
- |
1 |
12-112888210-GAG-TAT |
c.226_228delinsTAT |
p.E76Y |
Missense |
3/16 |
- |
1 |
12-112888210-GAG-TGT |
c.226_228delinsTGT |
p.E76C |
Missense |
3/16 |
- |
1 |
12-112888210-GAG-TTT |
c.226_228delinsTTT |
p.E76F |
Missense |
3/16 |
- |
1 |
12-112888210-GA-TC |
c.226_227inv |
p.E76S |
Missense |
3/16 |
- |
1 |
12-112888210-GA-TG |
c.226_227delinsTG |
p.E76W |
Missense |
3/16 |
- |
1 |
12-112888210-G-C |
c.226G>C |
p.E76Q |
Missense |
3/16 |
- |
67 |
12-112888210-G-T |
c.226G>T |
p.E76* |
Nonsense |
3/16 |
- |
1 |
12-112888211-A-C |
c.227A>C |
p.E76A |
Missense |
3/16 |
- |
90 |
12-112888211-A-G |
c.227A>G |
p.E76G |
Missense |
3/16 |
- |
80 |
12-112888211-A-T |
c.227A>T |
p.E76V |
Missense |
3/16 |
- |
56 |
12-112888212-G-C |
c.228G>C |
p.E76D |
Missense |
3/16 |
- |
36 |
12-112888212-G-T |
c.228G>T |
p.E76D |
Missense |
3/16 |
- |
33 |
12-112888213-T-A |
c.229T>A |
p.L77M |
Missense |
3/16 |
- |
1 |
12-112888213-T-G |
c.229T>G |
p.L77V |
Missense |
3/16 |
- |
7 |
12-112888213-TT-AA |
c.229_230inv |
p.L77K |
Missense |
3/16 |
- |
1 |
12-112888213-TT-AC |
c.229_230delinsAC |
p.L77T |
Missense |
3/16 |
- |
1 |
12-112888213-TT-AG |
c.229_230delinsAG |
p.L77R |
Missense |
3/16 |
- |
2 |
12-112888213-TT-CA |
c.229_230delinsCA |
p.L77Q |
Missense |
3/16 |
- |
1 |
12-112888213-TT-CC |
c.229_230delinsCC |
p.L77P |
Missense |
3/16 |
- |
2 |
12-112888213-TT-GA |
c.229_230delinsGA |
p.L77E |
Missense |
3/16 |
- |
1 |
12-112888213-TTG-AAC |
c.229_231delinsAAC |
p.L77N |
Missense |
3/16 |
- |
1 |
12-112888213-TTG-ATC |
c.229_231delinsATC |
p.L77I |
Missense |
3/16 |
- |
1 |
12-112888213-TT-GC |
c.229_230delinsGC |
p.L77A |
Missense |
3/16 |
- |
2 |
12-112888213-TTG-CAT |
c.229_231delinsCAT |
p.L77H |
Missense |
3/16 |
- |
1 |
12-112888213-TT-GG |
c.229_230delinsGG |
p.L77G |
Missense |
3/16 |
- |
1 |
12-112888213-TTG-GAC |
c.229_231delinsGAC |
p.L77D |
Missense |
3/16 |
- |
1 |
12-112888212-G-GT |
c.230dup |
p.L77Ffs*21 |
Frameshift |
3/16 |
- |
1 |
12-112888214-T-C |
c.230T>C |
p.L77S |
Missense |
3/16 |
- |
1 |
12-112888214-T-G |
c.230T>G |
p.L77W |
Missense |
3/16 |
- |
1 |
12-112888214-TG-AT |
c.230_231delinsAT |
p.L77Y |
Missense |
3/16 |
- |
1 |
12-112888214-TG-GT |
c.230_231delinsGT |
p.L77C |
Missense |
3/16 |
- |
1 |
12-112888215-G-C |
c.231G>C |
p.L77F |
Missense |
3/16 |
- |
1 |
12-112888215-G-T |
c.231G>T |
p.L77F |
Missense |
3/16 |
- |
1 |
12-112888214-TG-T |
c.232del |
p.V78Sfs*11 |
Frameshift |
3/16 |
- |
1 |
12-112888216-G-A |
c.232G>A |
p.V78I |
Missense |
3/16 |
- |
4 |
12-112888216-G-C |
c.232G>C |
p.V78L |
Missense |
3/16 |
- |
1 |
12-112888216-G-T |
c.232G>T |
p.V78F |
Missense |
3/16 |
- |
2 |
12-112888216-GT-AA |
c.232_233delinsAA |
p.V78N |
Missense |
3/16 |
- |
1 |
12-112888216-GT-AC |
c.232_233inv |
p.V78T |
Missense |
3/16 |
- |
1 |
12-112888216-GT-AG |
c.232_233delinsAG |
p.V78S |
Missense |
3/16 |
- |
1 |
12-112888216-GT-CA |
c.232_233delinsCA |
p.V78H |
Missense |
3/16 |
- |
1 |
12-112888216-GTC-AAG |
c.232_234delinsAAG |
p.V78K |
Missense |
3/16 |
- |
1 |
12-112888216-GTC-ATG |
c.232_234delinsATG |
p.V78M |
Missense |
3/16 |
- |
3 |
12-112888216-GT-CC |
c.232_233delinsCC |
p.V78P |
Missense |
3/16 |
- |
1 |
12-112888216-GTC-CAA |
c.232_234delinsCAA |
p.V78Q |
Missense |
3/16 |
- |
1 |
12-112888216-GT-CG |
c.232_233delinsCG |
p.V78R |
Missense |
3/16 |
- |
1 |
12-112888216-GTC-TGG |
c.232_234delinsTGG |
p.V78W |
Missense |
3/16 |
- |
1 |
12-112888216-GT-TA |
c.232_233delinsTA |
p.V78Y |
Missense |
3/16 |
- |
1 |
12-112888216-GT-TG |
c.232_233delinsTG |
p.V78C |
Missense |
3/16 |
- |
1 |
12-112888217-T-A |
c.233T>A |
p.V78D |
Missense |
3/16 |
- |
2 |
12-112888217-T-C |
c.233T>C |
p.V78A |
Missense |
3/16 |
- |
3 |
12-112888217-TC-AG |
c.233_234delinsAG |
p.V78E |
Missense |
3/16 |
- |
1 |
12-112888217-T-G |
c.233T>G |
p.V78G |
Missense |
3/16 |
- |
1 |
12-112888219-C-A |
c.235C>A |
p.Q79K |
Missense |
3/16 |
- |
8 |
12-112888219-CA-AC |
c.235_236delinsAC |
p.Q79T |
Missense |
3/16 |
- |
1 |
12-112888219-CA-AT |
c.235_236delinsAT |
p.Q79M |
Missense |
3/16 |
- |
1 |
12-112888219-CAG-AAC |
c.235_237delinsAAC |
p.Q79N |
Missense |
3/16 |
- |
1 |
12-112888219-CAG-ATC |
c.235_237delinsATC |
p.Q79I |
Missense |
3/16 |
- |
1 |
12-112888219-CA-GC |
c.235_236delinsGC |
p.Q79A |
Missense |
3/16 |
- |
1 |
12-112888219-CA-GG |
c.235_236delinsGG |
p.Q79G |
Missense |
3/16 |
- |
1 |
12-112888219-CAG-GAC |
c.235_237delinsGAC |
p.Q79D |
Missense |
3/16 |
- |
1 |
12-112888219-CA-GT |
c.235_236delinsGT |
p.Q79V |
Missense |
3/16 |
- |
1 |
12-112888219-CAG-TAT |
c.235_237delinsTAT |
p.Q79Y |
Missense |
3/16 |
- |
1 |
12-112888219-CAG-TGT |
c.235_237delinsTGT |
p.Q79C |
Missense |
3/16 |
- |
1 |
12-112888219-CAG-TTT |
c.235_237delinsTTT |
p.Q79F |
Missense |
3/16 |
- |
1 |
12-112888219-CA-TC |
c.235_236delinsTC |
p.Q79S |
Missense |
3/16 |
- |
1 |
12-112888219-CA-TG |
c.235_236inv |
p.Q79W |
Missense |
3/16 |
- |
1 |
12-112888219-C-G |
c.235C>G |
p.Q79E |
Missense |
3/16 |
- |
1 |
12-112888219-C-T |
c.235C>T |
p.Q79* |
Nonsense |
3/16 |
- |
1 |
12-112888220-A-C |
c.236A>C |
p.Q79P |
Missense |
3/16 |
- |
9 |
12-112888220-A-G |
c.236A>G |
p.Q79R |
Missense |
3/16 |
- |
79 |
12-112888220-A-T |
c.236A>T |
p.Q79L |
Missense |
3/16 |
- |
2 |
12-112888221-AG-A |
c.237del |
p.Q79Hfs*10 |
Frameshift |
3/16 |
- |
1 |
12-112888221-G-A |
c.237G>A |
p.Q79= |
Synonymous |
3/16 |
- |
1 |
12-112888221-G-C |
c.237G>C |
p.Q79H |
Missense |
3/16 |
- |
2 |
12-112888221-G-T |
c.237G>T |
p.Q79H |
Missense |
3/16 |
- |
3 |
12-112888222-T-A |
c.238T>A |
p.Y80N |
Missense |
3/16 |
- |
1 |
12-112888222-TA-AC |
c.238_239delinsAC |
p.Y80T |
Missense |
3/16 |
- |
1 |
12-112888222-TA-AT |
c.238_239delinsAT |
p.Y80I |
Missense |
3/16 |
- |
1 |
12-112888222-TA-CC |
c.238_239delinsCC |
p.Y80P |
Missense |
3/16 |
- |
1 |
12-112888222-TA-CG |
c.238_239delinsCG |
p.Y80R |
Missense |
3/16 |
- |
1 |
12-112888222-TA-CT |
c.238_239delinsCT |
p.Y80L |
Missense |
3/16 |
- |
1 |
12-112888222-TA-GC |
c.238_239delinsGC |
p.Y80A |
Missense |
3/16 |
- |
1 |
12-112888222-TA-GG |
c.238_239delinsGG |
p.Y80G |
Missense |
3/16 |
- |
1 |
12-112888222-TA-GT |
c.238_239delinsGT |
p.Y80V |
Missense |
3/16 |
- |
1 |
12-112888222-TAT-AAG |
c.238_240delinsAAG |
p.Y80K |
Missense |
3/16 |
- |
1 |
12-112888222-TAT-ATG |
c.238_240delinsATG |
p.Y80M |
Missense |
3/16 |
- |
1 |
12-112888222-TAT-CAA |
c.238_240delinsCAA |
p.Y80Q |
Missense |
3/16 |
- |
1 |
12-112888222-TAT-GAG |
c.238_240delinsGAG |
p.Y80E |
Missense |
3/16 |
- |
1 |
12-112888222-T-C |
c.238T>C |
p.Y80H |
Missense |
3/16 |
- |
1 |
12-112888222-T-G |
c.238T>G |
p.Y80D |
Missense |
3/16 |
- |
1 |
12-112888223-A-C |
c.239A>C |
p.Y80S |
Missense |
3/16 |
- |
1 |
12-112888223-A-G |
c.239A>G |
p.Y80C |
Missense |
3/16 |
- |
2 |
12-112888223-A-T |
c.239A>T |
p.Y80F |
Missense |
3/16 |
- |
1 |
12-112888223-AT-GG |
c.239_240delinsGG |
p.Y80W |
Missense |
3/16 |
- |
1 |
12-112888224-T-A |
c.240T>A |
p.Y80* |
Nonsense |
3/16 |
- |
1 |
12-112888224-T-G |
c.240T>G |
p.Y80* |
Nonsense |
3/16 |
- |
1 |
12-112888225-T-A |
c.241T>A |
p.Y81N |
Missense |
3/16 |
- |
1 |
12-112888225-TA-AC |
c.241_242delinsAC |
p.Y81T |
Missense |
3/16 |
- |
1 |
12-112888225-TA-AT |
c.241_242delinsAT |
p.Y81I |
Missense |
3/16 |
- |
1 |
12-112888225-TAC-AAG |
c.241_243delinsAAG |
p.Y81K |
Missense |
3/16 |
- |
1 |
12-112888225-TAC-ATG |
c.241_243delinsATG |
p.Y81M |
Missense |
3/16 |
- |
1 |
12-112888225-TA-CC |
c.241_242delinsCC |
p.Y81P |
Missense |
3/16 |
- |
1 |
12-112888225-TAC-CAA |
c.241_243delinsCAA |
p.Y81Q |
Missense |
3/16 |
- |
1 |
12-112888225-TA-CG |
c.241_242delinsCG |
p.Y81R |
Missense |
3/16 |
- |
1 |
12-112888225-TAC-GAG |
c.241_243delinsGAG |
p.Y81E |
Missense |
3/16 |
- |
1 |
12-112888225-TA-CT |
c.241_242delinsCT |
p.Y81L |
Missense |
3/16 |
- |
1 |
12-112888225-TA-GC |
c.241_242delinsGC |
p.Y81A |
Missense |
3/16 |
- |
1 |
12-112888225-TA-GG |
c.241_242delinsGG |
p.Y81G |
Missense |
3/16 |
- |
1 |
12-112888225-TA-GT |
c.241_242delinsGT |
p.Y81V |
Missense |
3/16 |
- |
1 |
12-112888225-T-C |
c.241T>C |
p.Y81H |
Missense |
3/16 |
- |
1 |
12-112888225-T-G |
c.241T>G |
p.Y81D |
Missense |
3/16 |
- |
1 |
12-112888226-A-C |
c.242A>C |
p.Y81S |
Missense |
3/16 |
- |
1 |
12-112888226-AC-GG |
c.242_243delinsGG |
p.Y81W |
Missense |
3/16 |
- |
1 |
12-112888226-A-G |
c.242A>G |
p.Y81C |
Missense |
3/16 |
- |
1 |
12-112888226-A-T |
c.242A>T |
p.Y81F |
Missense |
3/16 |
- |
2 |
12-112888225-TAC-T |
c.243_244del |
p.M82Gfs*15 |
Frameshift |
3/16 |
- |
1 |
12-112888228-A-C |
c.244A>C |
p.M82L |
Missense |
3/16 |
- |
3 |
12-112888228-A-G |
c.244A>G |
p.M82V |
Missense |
3/16 |
- |
14 |
12-112888228-A-T |
c.244A>T |
p.M82L |
Missense |
3/16 |
- |
3 |
12-112888228-AT-CA |
c.244_245delinsCA |
p.M82Q |
Missense |
3/16 |
- |
1 |
12-112888228-AT-CC |
c.244_245delinsCC |
p.M82P |
Missense |
3/16 |
- |
1 |
12-112888228-AT-GA |
c.244_245delinsGA |
p.M82E |
Missense |
3/16 |
- |
1 |
12-112888228-AT-GC |
c.244_245delinsGC |
p.M82A |
Missense |
3/16 |
- |
2 |
12-112888228-ATG-CAT |
c.244_246inv |
p.M82H |
Missense |
3/16 |
- |
1 |
12-112888228-AT-GG |
c.244_245delinsGG |
p.M82G |
Missense |
3/16 |
- |
1 |
12-112888228-ATG-GAC |
c.244_246delinsGAC |
p.M82D |
Missense |
3/16 |
- |
1 |
12-112888228-ATG-TAT |
c.244_246delinsTAT |
p.M82Y |
Missense |
3/16 |
- |
1 |
12-112888228-ATG-TGT |
c.244_246delinsTGT |
p.M82C |
Missense |
3/16 |
- |
1 |
12-112888228-ATG-TTT |
c.244_246delinsTTT |
p.M82F |
Missense |
3/16 |
- |
1 |
12-112888228-AT-TG |
c.244_245delinsTG |
p.M82W |
Missense |
3/16 |
- |
1 |
12-112888229-T-A |
c.245T>A |
p.M82K |
Missense |
3/16 |
- |
2 |
12-112888229-T-C |
c.245T>C |
p.M82T |
Missense |
3/16 |
- |
4 |
12-112888229-T-G |
c.245T>G |
p.M82R |
Missense |
3/16 |
- |
2 |
12-112888229-TG-AC |
c.245_246delinsAC |
p.M82N |
Missense |
3/16 |
- |
1 |
12-112888229-TG-GC |
c.245_246delinsGC |
p.M82S |
Missense |
3/16 |
- |
1 |
12-112888230-G-A |
c.246G>A |
p.M82I |
Missense |
3/16 |
- |
1 |
12-112888230-G-C |
c.246G>C |
p.M82I |
Missense |
3/16 |
- |
1 |
12-112888230-G-T |
c.246G>T |
p.M82I |
Missense |
3/16 |
- |
1 |
12-112888231-G-A |
c.247G>A |
p.E83K |
Missense |
3/16 |
- |
2 |
12-112888231-GAA-AAC |
c.247_249delinsAAC |
p.E83N |
Missense |
3/16 |
- |
1 |
12-112888231-GAA-ATG |
c.247_249delinsATG |
p.E83M |
Missense |
3/16 |
- |
1 |
12-112888231-GA-AC |
c.247_248delinsAC |
p.E83T |
Missense |
3/16 |
- |
1 |
12-112888231-GAA-CAT |
c.247_249delinsCAT |
p.E83H |
Missense |
3/16 |
- |
1 |
12-112888231-GA-AG |
c.247_248delinsAG |
p.E83R |
Missense |
3/16 |
- |
1 |
12-112888231-GA-AT |
c.247_248delinsAT |
p.E83I |
Missense |
3/16 |
- |
1 |
12-112888231-GAA-TAT |
c.247_249delinsTAT |
p.E83Y |
Missense |
3/16 |
- |
1 |
12-112888231-GAA-TGG |
c.247_249delinsTGG |
p.E83W |
Missense |
3/16 |
- |
1 |
12-112888231-GAA-TGT |
c.247_249delinsTGT |
p.E83C |
Missense |
3/16 |
- |
1 |
12-112888231-GAA-TTT |
c.247_249delinsTTT |
p.E83F |
Missense |
3/16 |
- |
1 |
12-112888231-GA-CC |
c.247_248delinsCC |
p.E83P |
Missense |
3/16 |
- |
1 |
12-112888231-GA-CT |
c.247_248delinsCT |
p.E83L |
Missense |
3/16 |
- |
1 |
12-112888231-GA-TC |
c.247_248inv |
p.E83S |
Missense |
3/16 |
- |
1 |
12-112888231-G-C |
c.247G>C |
p.E83Q |
Missense |
3/16 |
- |
1 |
12-112888231-G-T |
c.247G>T |
p.E83* |
Nonsense |
3/16 |
- |
1 |
12-112888232-A-C |
c.248A>C |
p.E83A |
Missense |
3/16 |
- |
3 |
12-112888232-A-G |
c.248A>G |
p.E83G |
Missense |
3/16 |
- |
2 |
12-112888232-A-T |
c.248A>T |
p.E83V |
Missense |
3/16 |
- |
1 |
12-112888233-A-C |
c.249A>C |
p.E83D |
Missense |
3/16 |
- |
1 |
12-112888233-A-G |
c.249A>G |
p.E83= |
Synonymous |
3/16 |
- |
3 |
12-112888233-A-T |
c.249A>T |
p.E83D |
Missense |
3/16 |
- |
1 |
12-112888234-C-A |
c.250C>A |
p.H84N |
Missense |
3/16 |
- |
1 |
12-112888234-CA-AC |
c.250_251delinsAC |
p.H84T |
Missense |
3/16 |
- |
1 |
12-112888234-CA-AG |
c.250_251delinsAG |
p.H84S |
Missense |
3/16 |
- |
1 |
12-112888234-CA-AT |
c.250_251delinsAT |
p.H84I |
Missense |
3/16 |
- |
1 |
12-112888234-CA-GC |
c.250_251delinsGC |
p.H84A |
Missense |
3/16 |
- |
2 |
12-112888234-CA-GG |
c.250_251delinsGG |
p.H84G |
Missense |
3/16 |
- |
1 |
12-112888234-CA-GT |
c.250_251delinsGT |
p.H84V |
Missense |
3/16 |
- |
1 |
12-112888234-CAT-AAG |
c.250_252delinsAAG |
p.H84K |
Missense |
3/16 |
- |
1 |
12-112888234-CAT-ATG |
c.250_252inv |
p.H84M |
Missense |
3/16 |
- |
1 |
12-112888234-CA-TG |
c.250_251inv |
p.H84C |
Missense |
3/16 |
- |
1 |
12-112888234-CAT-GAG |
c.250_252delinsGAG |
p.H84E |
Missense |
3/16 |
- |
1 |
12-112888234-CA-TT |
c.250_251delinsTT |
p.H84F |
Missense |
3/16 |
- |
1 |
12-112888234-CAT-TGG |
c.250_252delinsTGG |
p.H84W |
Missense |
3/16 |
- |
1 |
12-112888234-C-G |
c.250C>G |
p.H84D |
Missense |
3/16 |
- |
1 |
12-112888234-C-T |
c.250C>T |
p.H84Y |
Missense |
3/16 |
- |
2 |
12-112888235-A-C |
c.251A>C |
p.H84P |
Missense |
3/16 |
- |
1 |
12-112888235-A-G |
c.251A>G |
p.H84R |
Missense |
3/16 |
- |
1 |
12-112888235-A-T |
c.251A>T |
p.H84L |
Missense |
3/16 |
- |
1 |
12-112888236-T-A |
c.252T>A |
p.H84Q |
Missense |
3/16 |
- |
1 |
12-112888236-T-G |
c.252T>G |
p.H84Q |
Missense |
3/16 |
- |
1 |
12-112888237-C-T |
c.253C>T |
p.H85Y |
Missense |
3/16 |
- |
3 |
12-112888237-C-CA |
c.254dup |
p.H85Qfs*13 |
Frameshift |
3/16 |
- |
1 |
12-112888238-A-C |
c.254A>C |
p.H85P |
Missense |
3/16 |
- |
1 |
12-112888239-C-A |
c.255C>A |
p.H85Q |
Missense |
3/16 |
- |
1 |
12-112888239-C-G |
c.255C>G |
p.H85Q |
Missense |
3/16 |
- |
1 |
12-112888239-C-T |
c.255C>T |
p.H85= |
Synonymous |
3/16 |
- |
5 |
12-112888240-G-A |
c.256G>A |
p.G86R |
Missense |
3/16 |
- |
1 |
12-112888240-G-C |
c.256G>C |
p.G86R |
Missense |
3/16 |
- |
1 |
12-112888241-G-T |
c.257G>T |
p.G86V |
Missense |
3/16 |
- |
1 |
12-112888239-CG-C |
c.258del |
p.Q87Nfs*2 |
Frameshift |
3/16 |
- |
1 |
12-112888242-G-A |
c.258G>A |
p.G86= |
Synonymous |
3/16 |
- |
2 |
12-112888242-G-C |
c.258G>C |
p.G86= |
Synonymous |
3/16 |
- |
2 |
12-112888242-G-T |
c.258G>T |
p.G86= |
Synonymous |
3/16 |
- |
3 |
12-112888243-CAA-GAC |
c.259_261delinsGAC |
p.Q87D |
Missense |
3/16 |
- |
1 |
12-112888243-C-T |
c.259C>T |
p.Q87* |
Nonsense |
3/16 |
- |
1 |
12-112888244-A-C |
c.260A>C |
p.Q87P |
Missense |
3/16 |
- |
1 |
12-112888244-A-G |
c.260A>G |
p.Q87R |
Missense |
3/16 |
- |
2 |
12-112888243-C-CA |
c.261dup |
p.L88Ifs*10 |
Frameshift |
3/16 |
- |
1 |
12-112888246-T-A |
c.262T>A |
p.L88I |
Missense |
3/16 |
- |
1 |
12-112888246-TT-CC |
c.262_263delinsCC |
p.L88P |
Missense |
3/16 |
- |
1 |
12-112888246-TT-GC |
c.262_263delinsGC |
p.L88A |
Missense |
3/16 |
- |
2 |
12-112888247-TA-GT |
c.263_264delinsGT |
p.L88C |
Missense |
3/16 |
- |
1 |
12-112888247-T-C |
c.263T>C |
p.L88S |
Missense |
3/16 |
- |
1 |
12-112888247-T-G |
c.263T>G |
p.L88* |
Nonsense |
3/16 |
- |
1 |
12-112888249-AA-GC |
c.265_266delinsGC |
p.K89A |
Missense |
3/16 |
- |
2 |
12-112888247-TA-T |
c.267del |
p.E90Rfs*13 |
Frameshift |
3/16 |
- |
1 |
12-112888247-T-TA |
c.267dup |
p.E90Rfs*8 |
Frameshift |
3/16 |
- |
1 |
12-112888251-A-C |
c.267A>C |
p.K89N |
Missense |
3/16 |
- |
1 |
12-112888251-A-T |
c.267A>T |
p.K89N |
Missense |
3/16 |
- |
1 |
12-112888252-G-A |
c.268G>A |
p.E90K |
Missense |
3/16 |
- |
1 |
12-112888252-GAG-ATC |
c.268_270delinsATC |
p.E90I |
Missense |
3/16 |
- |
1 |
12-112888252-G-C |
c.268G>C |
p.E90Q |
Missense |
3/16 |
- |
1 |
12-112888252-G-T |
c.268G>T |
p.E90* |
Nonsense |
3/16 |
- |
1 |
12-112888253-A-G |
c.269A>G |
p.E90G |
Missense |
3/16 |
- |
1 |
12-112888254-G-C |
c.270G>C |
p.E90D |
Missense |
3/16 |
- |
1 |
12-112888256-A-G |
c.272A>G |
p.K91R |
Missense |
3/16 |
- |
2 |
12-112888257-G-C |
c.273G>C |
p.K91N |
Missense |
3/16 |
- |
2 |
12-112888257-G-T |
c.273G>T |
p.K91N |
Missense |
3/16 |
- |
3 |
12-112888258-A-C |
c.274A>C |
p.N92H |
Missense |
3/16 |
- |
1 |
12-112888258-A-G |
c.274A>G |
p.N92D |
Missense |
3/16 |
- |
2 |
12-112888258-A-T |
c.274A>T |
p.N92Y |
Missense |
3/16 |
- |
1 |
12-112888259-A-C |
c.275A>C |
p.N92T |
Missense |
3/16 |
- |
1 |
12-112888259-A-G |
c.275A>G |
p.N92S |
Missense |
3/16 |
- |
2 |
12-112888260-T-C |
c.276T>C |
p.N92= |
Synonymous |
3/16 |
- |
1 |
12-112888261-G-C |
c.277G>C |
p.G93R |
Missense |
3/16 |
- |
1 |
12-112888262-G-A |
c.278G>A |
p.G93E |
Missense |
3/16 |
- |
1 |
12-112888262-GA-AC |
c.278_279delinsAC |
p.G93D |
Missense |
3/16 |
- |
2 |
12-112888262-G-C |
c.278G>C |
p.G93A |
Missense |
3/16 |
- |
14 |
12-112888264-G-A |
c.280G>A |
p.D94N |
Missense |
3/16 |
- |
12 |
12-112888264-G-C |
c.280G>C |
p.D94H |
Missense |
3/16 |
- |
1 |
12-112888265-A-C |
c.281A>C |
p.D94A |
Missense |
3/16 |
- |
1 |
12-112888265-A-T |
c.281A>T |
p.D94V |
Missense |
3/16 |
- |
1 |
12-112888266-T-A |
c.282T>A |
p.D94E |
Missense |
3/16 |
- |
4 |
12-112888266-T-G |
c.282T>G |
p.D94E |
Missense |
3/16 |
- |
4 |
12-112888267-GTC-ATG |
c.283_285delinsATG |
p.V95M |
Missense |
3/16 |
- |
1 |
12-112888267-GT-CC |
c.283_284delinsCC |
p.V95P |
Missense |
3/16 |
- |
1 |
12-112888268-T-C |
c.284T>C |
p.V95A |
Missense |
3/16 |
- |
1 |
12-112888269-C-A |
c.285C>A |
p.V95= |
Synonymous |
3/16 |
- |
1 |
12-112888269-C-G |
c.285C>G |
p.V95= |
Synonymous |
3/16 |
- |
1 |
12-112888269-C-T |
c.285C>T |
p.V95= |
Synonymous |
3/16 |
- |
1 |
12-112888270-A-G |
c.286A>G |
p.I96V |
Missense |
3/16 |
- |
1 |
12-112888270-AT-A |
c.288del |
p.I96Mfs*7 |
Frameshift |
3/16 |
- |
1 |
12-112888272-T-G |
c.288T>G |
p.I96M |
Missense |
3/16 |
- |
1 |
12-112888273-G-A |
c.289G>A |
p.E97K |
Missense |
3/16 |
- |
1 |
12-112888273-G-C |
c.289G>C |
p.E97Q |
Missense |
3/16 |
- |
3 |
12-112888274-A-C |
c.290A>C |
p.E97A |
Missense |
3/16 |
- |
4 |
12-112888276-C-A |
c.292C>A |
p.L98I |
Missense |
3/16 |
- |
1 |
12-112888276-C-G |
c.292C>G |
p.L98V |
Missense |
3/16 |
- |
1 |
12-112888276-C-T |
c.292C>T |
p.L98F |
Missense |
3/16 |
- |
10 |
12-112888276-CT-GC |
c.292_293delinsGC |
p.L98A |
Missense |
3/16 |
- |
1 |
12-112888277-T-A |
c.293T>A |
p.L98H |
Missense |
3/16 |
- |
1 |
12-112888279-AAA-GAC |
c.295_297delinsGAC |
p.K99D |
Missense |
3/16 |
- |
2 |
12-112888279-A-T |
c.295A>T |
p.K99* |
Nonsense |
3/16 |
- |
2 |
12-112888280-A-T |
c.296A>T |
p.K99I |
Missense |
3/16 |
- |
2 |
12-112888278-T-TA |
c.297dup |
p.Y100Ifs*11 |
Frameshift |
3/16 |
- |
1 |
12-112888281-A-T |
c.297A>T |
p.K99N |
Missense |
3/16 |
- |
1 |
12-112888282-T-C |
c.298T>C |
p.Y100H |
Missense |
3/16 |
- |
1 |
12-112888283-A-T |
c.299A>T |
p.Y100F |
Missense |
3/16 |
- |
1 |
12-112888284-T-A |
c.300T>A |
p.Y100* |
Nonsense |
3/16 |
- |
1 |
12-112888284-T-G |
c.300T>G |
p.Y100* |
Nonsense |
3/16 |
- |
1 |
12-112888285-CCT-AAG |
c.301_303delinsAAG |
p.P101K |
Missense |
3/16 |
- |
1 |
12-112888285-C-G |
c.301C>G |
p.P101A |
Missense |
3/16 |
- |
1 |
12-112888285-C-T |
c.301C>T |
p.P101S |
Missense |
3/16 |
- |
4 |
12-112888286-C-A |
c.302C>A |
p.P101H |
Missense |
3/16 |
- |
2 |
12-112888286-C-T |
c.302C>T |
p.P101L |
Missense |
3/16 |
- |
2 |
12-112888288-C-A |
c.304C>A |
p.L102M |
Missense |
3/16 |
- |
1 |
12-112888288-CT-GC |
c.304_305delinsGC |
p.L102A |
Missense |
3/16 |
- |
1 |
12-112888288-CTG-TTT |
c.304_306delinsTTT |
p.L102F |
Missense |
3/16 |
- |
1 |
12-112888288-C-T |
c.304C>T |
p.L102= |
Synonymous |
3/16 |
- |
1 |
12-112888290-G-A |
c.306G>A |
p.L102= |
Synonymous |
3/16 |
- |
3 |
12-112888290-G-C |
c.306G>C |
p.L102= |
Synonymous |
3/16 |
- |
1 |
12-112888290-G-T |
c.306G>T |
p.L102= |
Synonymous |
3/16 |
- |
1 |
12-112888291-A-G |
c.307A>G |
p.N103D |
Missense |
3/16 |
- |
1 |
12-112888293-C-A |
c.309C>A |
p.N103K |
Missense |
3/16 |
- |
3 |
12-112888293-C-G |
c.309C>G |
p.N103K |
Missense |
3/16 |
- |
3 |
12-112888293-C-T |
c.309C>T |
p.N103= |
Synonymous |
3/16 |
- |
1 |
12-112888294-T-A |
c.310T>A |
p.C104S |
Missense |
3/16 |
- |
1 |
12-112888294-T-C |
c.310T>C |
p.C104R |
Missense |
3/16 |
- |
3 |
12-112888294-TG-GC |
c.310_311delinsGC |
p.C104A |
Missense |
3/16 |
- |
1 |
12-112888295-G-C |
c.311G>C |
p.C104S |
Missense |
3/16 |
- |
1 |
12-112888295-G-A |
c.311G>A |
p.C104Y |
Missense |
3/16 |
- |
1 |
12-112888297-G-T |
c.313G>T |
p.A105S |
Missense |
3/16 |
- |
1 |
12-112888298-C-G |
c.314C>G |
p.A105G |
Missense |
3/16 |
- |
2 |
12-112888298-C-T |
c.314C>T |
p.A105V |
Missense |
3/16 |
- |
1 |
12-112888300-G-T |
c.316G>T |
p.D106Y |
Missense |
3/16 |
- |
3 |
12-112888301-A-C |
c.317A>C |
p.D106A |
Missense |
3/16 |
- |
35 |
12-112888301-A-G |
c.317A>G |
p.D106G |
Missense |
3/16 |
- |
2 |
12-112888301-A-T |
c.317A>T |
p.D106V |
Missense |
3/16 |
- |
1 |
12-112888302-T-A |
c.318T>A |
p.D106E |
Missense |
3/16 |
- |
1 |
12-112888302-T-G |
c.318T>G |
p.D106E |
Missense |
3/16 |
- |
1 |
12-112888303-C-A |
c.319C>A |
p.P107T |
Missense |
3/16 |
- |
1 |
12-112888303-CC-TT |
c.319_320delinsTT |
p.P107F |
Missense |
3/16 |
- |
1 |
12-112888303-C-G |
c.319C>G |
p.P107A |
Missense |
3/16 |
- |
1 |
12-112888303-C-T |
c.319C>T |
p.P107S |
Missense |
3/16 |
- |
3 |
12-112888302-T-TC |
c.320dup |
p.T108Yfs*3 |
Frameshift |
3/16 |
- |
1 |
12-112888304-C-T |
c.320C>T |
p.P107L |
Missense |
3/16 |
- |
1 |
12-112888306-ACC-GAG |
c.322_324delinsGAG |
p.T108E |
Missense |
3/16 |
- |
1 |
12-112888306-AC-GA |
c.322_323delinsGA |
p.T108D |
Missense |
3/16 |
- |
1 |
12-112888306-A-G |
c.322A>G |
p.T108A |
Missense |
3/16 |
- |
3 |
12-112888306-A-T |
c.322A>T |
p.T108S |
Missense |
3/16 |
- |
1 |
12-112888307-CC-TG |
c.323_324delinsTG |
p.T108M |
Missense |
3/16 |
- |
1 |
12-112888307-C-G |
c.323C>G |
p.T108S |
Missense |
3/16 |
- |
1 |
12-112888307-C-T |
c.323C>T |
p.T108I |
Missense |
3/16 |
- |
2 |
12-112888309-T-A |
c.325T>A |
p.S109T |
Missense |
3/16 |
- |
1 |
12-112888309-T-C |
c.325T>C |
p.S109P |
Missense |
3/16 |
- |
2 |
12-112888309-TC-AA |
c.325_326delinsAA |
p.S109N |
Missense |
3/16 |
- |
2 |
12-112888309-TC-AT |
c.325_326delinsAT |
p.S109I |
Missense |
3/16 |
- |
1 |
12-112888309-TC-CA |
c.325_326delinsCA |
p.S109H |
Missense |
3/16 |
- |
1 |
12-112888309-TC-CG |
c.325_326delinsCG |
p.S109R |
Missense |
3/16 |
- |
1 |
12-112888309-TC-CT |
c.325_326delinsCT |
p.S109L |
Missense |
3/16 |
- |
2 |
12-112888309-TC-GA |
c.325_326inv |
p.S109D |
Missense |
3/16 |
- |
1 |
12-112888309-TC-GG |
c.325_326delinsGG |
p.S109G |
Missense |
3/16 |
- |
1 |
12-112888309-TC-GT |
c.325_326delinsGT |
p.S109V |
Missense |
3/16 |
- |
1 |
12-112888309-TCT-AAG |
c.325_327delinsAAG |
p.S109K |
Missense |
3/16 |
- |
1 |
12-112888309-TCT-ATG |
c.325_327delinsATG |
p.S109M |
Missense |
3/16 |
- |
1 |
12-112888309-TCT-CAA |
c.325_327delinsCAA |
p.S109Q |
Missense |
3/16 |
- |
1 |
12-112888309-TCT-GAG |
c.325_327delinsGAG |
p.S109E |
Missense |
3/16 |
- |
1 |
12-112888309-T-G |
c.325T>G |
p.S109A |
Missense |
3/16 |
- |
1 |
12-112888310-C-A |
c.326C>A |
p.S109Y |
Missense |
3/16 |
- |
1 |
12-112888310-C-G |
c.326C>G |
p.S109C |
Missense |
3/16 |
- |
2 |
12-112888310-C-T |
c.326C>T |
p.S109F |
Missense |
3/16 |
- |
4 |
12-112888310-CT-GG |
c.326_327delinsGG |
p.S109W |
Missense |
3/16 |
- |
1 |
12-112888311-T-G |
c.327T>G |
p.S109= |
Synonymous |
3/16 |
- |
1 |
12-112888312-G-A |
c.328G>A |
p.E110K |
Missense |
3/16 |
- |
13 |
12-112888312-GAA-AAC |
c.328_330delinsAAC |
p.E110N |
Missense |
3/16 |
- |
1 |
12-112888312-GAAAGGTCAGTAACATTTTAGTGACCACAAAGTCTGCTGCTCCCTTGTGCCCTGAGTGT-CGAGAC |
c.328_332+54delinsCGAGAC |
- |
Multi:SpliceDonorBlockSubstitution,SpliceAcceptorBlockSubstitution |
3/16 |
3/15 |
1 |
12-112888312-GAA-ATG |
c.328_330delinsATG |
p.E110M |
Missense |
3/16 |
- |
1 |
12-112888312-GA-AC |
c.328_329delinsAC |
p.E110T |
Missense |
3/16 |
- |
1 |
12-112888312-GAA-CAT |
c.328_330delinsCAT |
p.E110H |
Missense |
3/16 |
- |
1 |
12-112888312-GA-AG |
c.328_329delinsAG |
p.E110R |
Missense |
3/16 |
- |
1 |
12-112888312-GA-AT |
c.328_329delinsAT |
p.E110I |
Missense |
3/16 |
- |
1 |
12-112888312-GAA-TAT |
c.328_330delinsTAT |
p.E110Y |
Missense |
3/16 |
- |
1 |
12-112888312-GAA-TGG |
c.328_330delinsTGG |
p.E110W |
Missense |
3/16 |
- |
1 |
12-112888312-GAA-TGT |
c.328_330delinsTGT |
p.E110C |
Missense |
3/16 |
- |
1 |
12-112888312-GAA-TTT |
c.328_330delinsTTT |
p.E110F |
Missense |
3/16 |
- |
1 |
12-112888312-GA-CC |
c.328_329delinsCC |
p.E110P |
Missense |
3/16 |
- |
1 |
12-112888312-GA-CT |
c.328_329delinsCT |
p.E110L |
Missense |
3/16 |
- |
1 |
12-112888312-GA-TC |
c.328_329inv |
p.E110S |
Missense |
3/16 |
- |
1 |
12-112888312-G-C |
c.328G>C |
p.E110Q |
Missense |
3/16 |
- |
3 |
12-112888313-A-C |
c.329A>C |
p.E110A |
Missense |
3/16 |
- |
9 |
12-112888313-A-G |
c.329A>G |
p.E110G |
Missense |
3/16 |
- |
3 |
12-112888313-A-T |
c.329A>T |
p.E110V |
Missense |
3/16 |
- |
1 |
12-112888314-A-C |
c.330A>C |
p.E110D |
Missense |
3/16 |
- |
1 |
12-112888314-A-G |
c.330A>G |
p.E110= |
Synonymous |
3/16 |
- |
1 |
12-112888314-A-T |
c.330A>T |
p.E110D |
Missense |
3/16 |
- |
1 |
12-112888315-A-G |
c.331A>G |
p.R111G |
Missense |
3/16 |
- |
2 |
12-112888315-AG-CA |
c.331_332delinsCA |
p.R111Q |
Missense |
3/16 |
- |
3 |
12-112888315-AG-CC |
c.331_332delinsCC |
p.R111P |
Missense |
3/16 |
- |
1 |
12-112888315-AG-CT |
c.331_332inv |
p.R111L |
Missense |
3/16 |
- |
1 |
12-112888315-AG-GA |
c.331_332delinsGA |
p.R111E |
Missense |
3/16 |
- |
1 |
12-112888315-AG-GC |
c.331_332delinsGC |
p.R111A |
Missense |
3/16 |
- |
2 |
12-112888315-AG-GT |
c.331_332delinsGT |
p.R111V |
Missense |
3/16 |
- |
1 |
12-112888315-A-T |
c.331A>T |
p.R111W |
Missense |
3/16 |
- |
1 |
12-112888316-G-A |
c.332G>A |
p.R111K |
Missense |
3/16 |
- |
1 |
12-112888316-G-C |
c.332G>C |
p.R111T |
Missense |
3/16 |
- |
1 |
12-112888316-G-T |
c.332G>T |
p.R111M |
Missense |
3/16 |
- |
1 |
12-112888317-G-A |
c.332+1G>A |
- |
IntronicSNV |
- |
3/15 |
1 |
12-112888318-T-C |
c.332+2T>C |
- |
IntronicSNV |
- |
3/15 |
1 |
12-112888333-T-G |
c.332+17T>G |
- |
IntronicSNV |
- |
3/15 |
2 |
12-112889204-G-A |
c.332+888G>A |
- |
IntronicSNV |
- |
3/15 |
1 |
12-112890776-A-G |
c.333-223A>G |
- |
IntronicSNV |
- |
3/15 |
17 |
12-112890999-G-C |
c.333G>C |
p.R111S |
Missense |
4/16 |
- |
1 |
12-112890999-G-T |
c.333G>T |
p.R111S |
Missense |
4/16 |
- |
1 |
12-112891000-T-A |
c.334T>A |
p.W112R |
Missense |
4/16 |
- |
1 |
12-112891000-T-C |
c.334T>C |
p.W112R |
Missense |
4/16 |
- |
1 |
12-112891000-T-G |
c.334T>G |
p.W112G |
Missense |
4/16 |
- |
1 |
12-112891000-TG-AA |
c.334_335delinsAA |
p.W112K |
Missense |
4/16 |
- |
1 |
12-112891000-TG-AC |
c.334_335delinsAC |
p.W112T |
Missense |
4/16 |
- |
1 |
12-112891000-TG-AT |
c.334_335delinsAT |
p.W112M |
Missense |
4/16 |
- |
1 |
12-112891000-TG-CA |
c.334_335inv |
p.W112Q |
Missense |
4/16 |
- |
1 |
12-112891000-TG-CC |
c.334_335delinsCC |
p.W112P |
Missense |
4/16 |
- |
1 |
12-112891000-TG-GA |
c.334_335delinsGA |
p.W112E |
Missense |
4/16 |
- |
1 |
12-112891000-TGG-AAC |
c.334_336delinsAAC |
p.W112N |
Missense |
4/16 |
- |
1 |
12-112891000-TGG-ATC |
c.334_336delinsATC |
p.W112I |
Missense |
4/16 |
- |
1 |
12-112891000-TG-GC |
c.334_335delinsGC |
p.W112A |
Missense |
4/16 |
- |
1 |
12-112891000-TGG-CAT |
c.334_336delinsCAT |
p.W112H |
Missense |
4/16 |
- |
1 |
12-112891000-TGG-GAC |
c.334_336delinsGAC |
p.W112D |
Missense |
4/16 |
- |
1 |
12-112891000-TG-GT |
c.334_335delinsGT |
p.W112V |
Missense |
4/16 |
- |
1 |
12-112891001-G-A |
c.335G>A |
p.W112* |
Nonsense |
4/16 |
- |
1 |
12-112891001-G-C |
c.335G>C |
p.W112S |
Missense |
4/16 |
- |
1 |
12-112891001-GG-AT |
c.335_336delinsAT |
p.W112Y |
Missense |
4/16 |
- |
1 |
12-112891001-GG-TT |
c.335_336delinsTT |
p.W112F |
Missense |
4/16 |
- |
1 |
12-112891001-G-T |
c.335G>T |
p.W112L |
Missense |
4/16 |
- |
1 |
12-112891002-G-A |
c.336G>A |
p.W112* |
Nonsense |
4/16 |
- |
1 |
12-112891002-G-C |
c.336G>C |
p.W112C |
Missense |
4/16 |
- |
1 |
12-112891002-G-T |
c.336G>T |
p.W112C |
Missense |
4/16 |
- |
1 |
12-112891003-T-A |
c.337T>A |
p.F113I |
Missense |
4/16 |
- |
2 |
12-112891003-T-C |
c.337T>C |
p.F113L |
Missense |
4/16 |
- |
2 |
12-112891003-T-G |
c.337T>G |
p.F113V |
Missense |
4/16 |
- |
2 |
12-112891003-TT-AA |
c.337_338inv |
p.F113N |
Missense |
4/16 |
- |
1 |
12-112891003-TT-AC |
c.337_338delinsAC |
p.F113T |
Missense |
4/16 |
- |
1 |
12-112891003-TT-CA |
c.337_338delinsCA |
p.F113H |
Missense |
4/16 |
- |
1 |
12-112891003-TT-CC |
c.337_338delinsCC |
p.F113P |
Missense |
4/16 |
- |
1 |
12-112891003-TT-CG |
c.337_338delinsCG |
p.F113R |
Missense |
4/16 |
- |
1 |
12-112891003-TT-GA |
c.337_338delinsGA |
p.F113D |
Missense |
4/16 |
- |
1 |
12-112891003-TT-GC |
c.337_338delinsGC |
p.F113A |
Missense |
4/16 |
- |
1 |
12-112891003-TT-GG |
c.337_338delinsGG |
p.F113G |
Missense |
4/16 |
- |
1 |
12-112891003-TTT-AAG |
c.337_339delinsAAG |
p.F113K |
Missense |
4/16 |
- |
1 |
12-112891003-TTT-ATG |
c.337_339delinsATG |
p.F113M |
Missense |
4/16 |
- |
1 |
12-112891003-TTT-CAA |
c.337_339delinsCAA |
p.F113Q |
Missense |
4/16 |
- |
1 |
12-112891003-TTT-GAG |
c.337_339delinsGAG |
p.F113E |
Missense |
4/16 |
- |
1 |
12-112891005-T-A |
c.339T>A |
p.F113L |
Missense |
4/16 |
- |
2 |
12-112891005-T-G |
c.339T>G |
p.F113L |
Missense |
4/16 |
- |
2 |
12-112891004-T-A |
c.338T>A |
p.F113Y |
Missense |
4/16 |
- |
1 |
12-112891004-T-C |
c.338T>C |
p.F113S |
Missense |
4/16 |
- |
1 |
12-112891004-T-G |
c.338T>G |
p.F113C |
Missense |
4/16 |
- |
2 |
12-112891004-TT-GG |
c.338_339delinsGG |
p.F113W |
Missense |
4/16 |
- |
1 |
12-112891006-C-A |
c.340C>A |
p.H114N |
Missense |
4/16 |
- |
1 |
12-112891006-CA-AC |
c.340_341delinsAC |
p.H114T |
Missense |
4/16 |
- |
1 |
12-112891006-CA-AG |
c.340_341delinsAG |
p.H114S |
Missense |
4/16 |
- |
1 |
12-112891006-CA-AT |
c.340_341delinsAT |
p.H114I |
Missense |
4/16 |
- |
1 |
12-112891006-CA-GC |
c.340_341delinsGC |
p.H114A |
Missense |
4/16 |
- |
2 |
12-112891006-CA-GG |
c.340_341delinsGG |
p.H114G |
Missense |
4/16 |
- |
1 |
12-112891006-CA-GT |
c.340_341delinsGT |
p.H114V |
Missense |
4/16 |
- |
1 |
12-112891006-CAT-AAG |
c.340_342delinsAAG |
p.H114K |
Missense |
4/16 |
- |
1 |
12-112891006-CAT-ATG |
c.340_342inv |
p.H114M |
Missense |
4/16 |
- |
1 |
12-112891006-CA-TG |
c.340_341inv |
p.H114C |
Missense |
4/16 |
- |
1 |
12-112891006-CAT-GAG |
c.340_342delinsGAG |
p.H114E |
Missense |
4/16 |
- |
1 |
12-112891006-CA-TT |
c.340_341delinsTT |
p.H114F |
Missense |
4/16 |
- |
1 |
12-112891006-CAT-TGG |
c.340_342delinsTGG |
p.H114W |
Missense |
4/16 |
- |
1 |
12-112891006-C-G |
c.340C>G |
p.H114D |
Missense |
4/16 |
- |
1 |
12-112891006-C-T |
c.340C>T |
p.H114Y |
Missense |
4/16 |
- |
7 |
12-112891007-A-C |
c.341A>C |
p.H114P |
Missense |
4/16 |
- |
1 |
12-112891007-A-G |
c.341A>G |
p.H114R |
Missense |
4/16 |
- |
1 |
12-112891007-A-T |
c.341A>T |
p.H114L |
Missense |
4/16 |
- |
1 |
12-112891008-T-A |
c.342T>A |
p.H114Q |
Missense |
4/16 |
- |
1 |
12-112891008-T-C |
c.342T>C |
p.H114= |
Synonymous |
4/16 |
- |
4 |
12-112891008-T-G |
c.342T>G |
p.H114Q |
Missense |
4/16 |
- |
1 |
12-112891009-G-A |
c.343G>A |
p.G115R |
Missense |
4/16 |
- |
3 |
12-112891009-G-C |
c.343G>C |
p.G115R |
Missense |
4/16 |
- |
1 |
12-112891009-GG-AA |
c.343_344delinsAA |
p.G115K |
Missense |
4/16 |
- |
1 |
12-112891009-GGA-AAC |
c.343_345delinsAAC |
p.G115N |
Missense |
4/16 |
- |
1 |
12-112891009-GGA-AGC |
c.343_345delinsAGC |
p.G115S |
Missense |
4/16 |
- |
1 |
12-112891009-GGA-ATG |
c.343_345delinsATG |
p.G115M |
Missense |
4/16 |
- |
1 |
12-112891009-GG-AC |
c.343_344delinsAC |
p.G115T |
Missense |
4/16 |
- |
1 |
12-112891009-GGA-CAT |
c.343_345delinsCAT |
p.G115H |
Missense |
4/16 |
- |
1 |
12-112891009-GG-AT |
c.343_344delinsAT |
p.G115I |
Missense |
4/16 |
- |
1 |
12-112891009-GGA-TAT |
c.343_345delinsTAT |
p.G115Y |
Missense |
4/16 |
- |
1 |
12-112891009-GGA-TGG |
c.343_345delinsTGG |
p.G115W |
Missense |
4/16 |
- |
1 |
12-112891009-GGA-TGT |
c.343_345delinsTGT |
p.G115C |
Missense |
4/16 |
- |
1 |
12-112891009-GGA-TTT |
c.343_345delinsTTT |
p.G115F |
Missense |
4/16 |
- |
1 |
12-112891009-GG-CA |
c.343_344delinsCA |
p.G115Q |
Missense |
4/16 |
- |
1 |
12-112891009-GG-CC |
c.343_344inv |
p.G115P |
Missense |
4/16 |
- |
1 |
12-112891009-GG-CT |
c.343_344delinsCT |
p.G115L |
Missense |
4/16 |
- |
1 |
12-112891010-G-A |
c.344G>A |
p.G115E |
Missense |
4/16 |
- |
3 |
12-112891010-GA-AC |
c.344_345delinsAC |
p.G115D |
Missense |
4/16 |
- |
1 |
12-112891010-G-C |
c.344G>C |
p.G115A |
Missense |
4/16 |
- |
1 |
12-112891010-G-T |
c.344G>T |
p.G115V |
Missense |
4/16 |
- |
1 |
12-112891012-C-A |
c.346C>A |
p.H116N |
Missense |
4/16 |
- |
1 |
12-112891012-CA-AC |
c.346_347delinsAC |
p.H116T |
Missense |
4/16 |
- |
1 |
12-112891012-CA-AG |
c.346_347delinsAG |
p.H116S |
Missense |
4/16 |
- |
1 |
12-112891012-CA-AT |
c.346_347delinsAT |
p.H116I |
Missense |
4/16 |
- |
1 |
12-112891012-CA-GC |
c.346_347delinsGC |
p.H116A |
Missense |
4/16 |
- |
2 |
12-112891012-CA-GG |
c.346_347delinsGG |
p.H116G |
Missense |
4/16 |
- |
1 |
12-112891012-CA-GT |
c.346_347delinsGT |
p.H116V |
Missense |
4/16 |
- |
1 |
12-112891012-CAT-AAG |
c.346_348delinsAAG |
p.H116K |
Missense |
4/16 |
- |
1 |
12-112891012-CAT-ATG |
c.346_348inv |
p.H116M |
Missense |
4/16 |
- |
1 |
12-112891012-CA-TG |
c.346_347inv |
p.H116C |
Missense |
4/16 |
- |
1 |
12-112891012-CAT-GAG |
c.346_348delinsGAG |
p.H116E |
Missense |
4/16 |
- |
1 |
12-112891012-CA-TT |
c.346_347delinsTT |
p.H116F |
Missense |
4/16 |
- |
1 |
12-112891012-CAT-TGG |
c.346_348delinsTGG |
p.H116W |
Missense |
4/16 |
- |
1 |
12-112891012-C-G |
c.346C>G |
p.H116D |
Missense |
4/16 |
- |
1 |
12-112891012-C-T |
c.346C>T |
p.H116Y |
Missense |
4/16 |
- |
2 |
12-112891013-A-C |
c.347A>C |
p.H116P |
Missense |
4/16 |
- |
1 |
12-112891013-A-G |
c.347A>G |
p.H116R |
Missense |
4/16 |
- |
1 |
12-112891013-A-T |
c.347A>T |
p.H116L |
Missense |
4/16 |
- |
1 |
12-112891014-T-A |
c.348T>A |
p.H116Q |
Missense |
4/16 |
- |
2 |
12-112891014-T-G |
c.348T>G |
p.H116Q |
Missense |
4/16 |
- |
2 |
12-112891015-C-A |
c.349C>A |
p.L117I |
Missense |
4/16 |
- |
1 |
12-112891015-C-G |
c.349C>G |
p.L117V |
Missense |
4/16 |
- |
2 |
12-112891015-C-T |
c.349C>T |
p.L117F |
Missense |
4/16 |
- |
10 |
12-112891015-CT-AA |
c.349_350delinsAA |
p.L117N |
Missense |
4/16 |
- |
1 |
12-112891015-CT-AC |
c.349_350delinsAC |
p.L117T |
Missense |
4/16 |
- |
1 |
12-112891015-CT-AG |
c.349_350inv |
p.L117S |
Missense |
4/16 |
- |
1 |
12-112891015-CTC-AAG |
c.349_351delinsAAG |
p.L117K |
Missense |
4/16 |
- |
1 |
12-112891015-CTC-ATG |
c.349_351delinsATG |
p.L117M |
Missense |
4/16 |
- |
1 |
12-112891015-CTC-GAG |
c.349_351inv |
p.L117E |
Missense |
4/16 |
- |
1 |
12-112891015-CTC-TGG |
c.349_351delinsTGG |
p.L117W |
Missense |
4/16 |
- |
1 |
12-112891015-CT-GA |
c.349_350delinsGA |
p.L117D |
Missense |
4/16 |
- |
1 |
12-112891015-CT-GC |
c.349_350delinsGC |
p.L117A |
Missense |
4/16 |
- |
2 |
12-112891015-CT-GG |
c.349_350delinsGG |
p.L117G |
Missense |
4/16 |
- |
1 |
12-112891015-CT-TA |
c.349_350delinsTA |
p.L117Y |
Missense |
4/16 |
- |
1 |
12-112891015-CT-TG |
c.349_350delinsTG |
p.L117C |
Missense |
4/16 |
- |
1 |
12-112891016-T-A |
c.350T>A |
p.L117H |
Missense |
4/16 |
- |
1 |
12-112891016-T-C |
c.350T>C |
p.L117P |
Missense |
4/16 |
- |
2 |
12-112891016-TC-AA |
c.350_351delinsAA |
p.L117Q |
Missense |
4/16 |
- |
1 |
12-112891016-T-G |
c.350T>G |
p.L117R |
Missense |
4/16 |
- |
1 |
12-112891017-C-T |
c.351C>T |
p.L117= |
Synonymous |
4/16 |
- |
1 |
12-112891018-T-A |
c.352T>A |
p.S118T |
Missense |
4/16 |
- |
1 |
12-112891018-T-C |
c.352T>C |
p.S118P |
Missense |
4/16 |
- |
2 |
12-112891018-TC-AA |
c.352_353delinsAA |
p.S118N |
Missense |
4/16 |
- |
1 |
12-112891018-TC-AT |
c.352_353delinsAT |
p.S118I |
Missense |
4/16 |
- |
1 |
12-112891018-TC-CA |
c.352_353delinsCA |
p.S118H |
Missense |
4/16 |
- |
1 |
12-112891018-TC-CG |
c.352_353delinsCG |
p.S118R |
Missense |
4/16 |
- |
1 |
12-112891018-TC-CT |
c.352_353delinsCT |
p.S118L |
Missense |
4/16 |
- |
1 |
12-112891018-TC-GA |
c.352_353inv |
p.S118D |
Missense |
4/16 |
- |
1 |
12-112891018-TC-GG |
c.352_353delinsGG |
p.S118G |
Missense |
4/16 |
- |
1 |
12-112891018-TC-GT |
c.352_353delinsGT |
p.S118V |
Missense |
4/16 |
- |
1 |
12-112891018-TCT-AAG |
c.352_354delinsAAG |
p.S118K |
Missense |
4/16 |
- |
1 |
12-112891018-TCT-ATG |
c.352_354delinsATG |
p.S118M |
Missense |
4/16 |
- |
1 |
12-112891018-TCT-CAA |
c.352_354delinsCAA |
p.S118Q |
Missense |
4/16 |
- |
1 |
12-112891018-TCT-GAG |
c.352_354delinsGAG |
p.S118E |
Missense |
4/16 |
- |
1 |
12-112891018-T-G |
c.352T>G |
p.S118A |
Missense |
4/16 |
- |
1 |
12-112891013-ATC-A |
c.353_354del |
p.S118Wfs*10 |
Frameshift |
4/16 |
- |
1 |
12-112891019-C-A |
c.353C>A |
p.S118Y |
Missense |
4/16 |
- |
1 |
12-112891019-C-G |
c.353C>G |
p.S118C |
Missense |
4/16 |
- |
1 |
12-112891019-C-T |
c.353C>T |
p.S118F |
Missense |
4/16 |
- |
1 |
12-112891019-CT-GG |
c.353_354delinsGG |
p.S118W |
Missense |
4/16 |
- |
1 |
12-112891021-G-A |
c.355G>A |
p.G119R |
Missense |
4/16 |
- |
1 |
12-112891021-G-C |
c.355G>C |
p.G119R |
Missense |
4/16 |
- |
1 |
12-112891021-GG-AA |
c.355_356delinsAA |
p.G119K |
Missense |
4/16 |
- |
1 |
12-112891021-GG-AC |
c.355_356delinsAC |
p.G119T |
Missense |
4/16 |
- |
1 |
12-112891021-GG-AT |
c.355_356delinsAT |
p.G119M |
Missense |
4/16 |
- |
1 |
12-112891021-GG-CA |
c.355_356delinsCA |
p.G119Q |
Missense |
4/16 |
- |
1 |
12-112891021-GG-CC |
c.355_356inv |
p.G119P |
Missense |
4/16 |
- |
1 |
12-112891021-GG-CT |
c.355_356delinsCT |
p.G119L |
Missense |
4/16 |
- |
1 |
12-112891021-GGG-AAC |
c.355_357delinsAAC |
p.G119N |
Missense |
4/16 |
- |
1 |
12-112891021-GGG-AGC |
c.355_357delinsAGC |
p.G119S |
Missense |
4/16 |
- |
1 |
12-112891021-GGG-ATC |
c.355_357delinsATC |
p.G119I |
Missense |
4/16 |
- |
1 |
12-112891021-GGG-CAT |
c.355_357delinsCAT |
p.G119H |
Missense |
4/16 |
- |
1 |
12-112891021-GGG-TAT |
c.355_357delinsTAT |
p.G119Y |
Missense |
4/16 |
- |
1 |
12-112891021-GGG-TGT |
c.355_357delinsTGT |
p.G119C |
Missense |
4/16 |
- |
1 |
12-112891021-GGG-TTT |
c.355_357delinsTTT |
p.G119F |
Missense |
4/16 |
- |
1 |
12-112891021-G-T |
c.355G>T |
p.G119W |
Missense |
4/16 |
- |
1 |
12-112891022-G-A |
c.356G>A |
p.G119E |
Missense |
4/16 |
- |
2 |
12-112891022-G-C |
c.356G>C |
p.G119A |
Missense |
4/16 |
- |
1 |
12-112891022-GG-AC |
c.356_357delinsAC |
p.G119D |
Missense |
4/16 |
- |
1 |
12-112891022-G-T |
c.356G>T |
p.G119V |
Missense |
4/16 |
- |
1 |
12-112891024-AAA-CAT |
c.358_360delinsCAT |
p.K120H |
Missense |
4/16 |
- |
1 |
12-112891024-AAA-GAC |
c.358_360delinsGAC |
p.K120D |
Missense |
4/16 |
- |
1 |
12-112891024-AAA-TAT |
c.358_360delinsTAT |
p.K120Y |
Missense |
4/16 |
- |
1 |
12-112891024-AAA-TGG |
c.358_360delinsTGG |
p.K120W |
Missense |
4/16 |
- |
1 |
12-112891024-AAA-TGT |
c.358_360delinsTGT |
p.K120C |
Missense |
4/16 |
- |
1 |
12-112891024-AAA-TTT |
c.358_360inv |
p.K120F |
Missense |
4/16 |
- |
1 |
12-112891024-AA-CC |
c.358_359delinsCC |
p.K120P |
Missense |
4/16 |
- |
1 |
12-112891024-AA-CT |
c.358_359delinsCT |
p.K120L |
Missense |
4/16 |
- |
1 |
12-112891024-AA-GC |
c.358_359delinsGC |
p.K120A |
Missense |
4/16 |
- |
2 |
12-112891024-AA-GG |
c.358_359delinsGG |
p.K120G |
Missense |
4/16 |
- |
1 |
12-112891024-AA-GT |
c.358_359delinsGT |
p.K120V |
Missense |
4/16 |
- |
1 |
12-112891024-A-C |
c.358A>C |
p.K120Q |
Missense |
4/16 |
- |
1 |
12-112891024-A-G |
c.358A>G |
p.K120E |
Missense |
4/16 |
- |
1 |
12-112891024-A-T |
c.358A>T |
p.K120* |
Nonsense |
4/16 |
- |
1 |
12-112891025-AA-GC |
c.359_360delinsGC |
p.K120S |
Missense |
4/16 |
- |
1 |
12-112891025-AA-TG |
c.359_360delinsTG |
p.K120M |
Missense |
4/16 |
- |
1 |
12-112891025-A-C |
c.359A>C |
p.K120T |
Missense |
4/16 |
- |
1 |
12-112891025-A-G |
c.359A>G |
p.K120R |
Missense |
4/16 |
- |
1 |
12-112891025-A-T |
c.359A>T |
p.K120I |
Missense |
4/16 |
- |
1 |
12-112891026-A-C |
c.360A>C |
p.K120N |
Missense |
4/16 |
- |
1 |
12-112891026-A-T |
c.360A>T |
p.K120N |
Missense |
4/16 |
- |
1 |
12-112891027-G-A |
c.361G>A |
p.E121K |
Missense |
4/16 |
- |
3 |
12-112891027-GAA-AAC |
c.361_363delinsAAC |
p.E121N |
Missense |
4/16 |
- |
1 |
12-112891027-GAA-ATG |
c.361_363delinsATG |
p.E121M |
Missense |
4/16 |
- |
1 |
12-112891027-GA-AC |
c.361_362delinsAC |
p.E121T |
Missense |
4/16 |
- |
1 |
12-112891027-GAA-CAT |
c.361_363delinsCAT |
p.E121H |
Missense |
4/16 |
- |
1 |
12-112891027-GA-AG |
c.361_362delinsAG |
p.E121R |
Missense |
4/16 |
- |
1 |
12-112891027-GA-AT |
c.361_362delinsAT |
p.E121I |
Missense |
4/16 |
- |
1 |
12-112891027-GAA-TAT |
c.361_363delinsTAT |
p.E121Y |
Missense |
4/16 |
- |
1 |
12-112891027-GAA-TGG |
c.361_363delinsTGG |
p.E121W |
Missense |
4/16 |
- |
1 |
12-112891027-GAA-TGT |
c.361_363delinsTGT |
p.E121C |
Missense |
4/16 |
- |
1 |
12-112891027-GAA-TTT |
c.361_363delinsTTT |
p.E121F |
Missense |
4/16 |
- |
1 |
12-112891027-GA-CC |
c.361_362delinsCC |
p.E121P |
Missense |
4/16 |
- |
1 |
12-112891027-GA-CT |
c.361_362delinsCT |
p.E121L |
Missense |
4/16 |
- |
1 |
12-112891027-GA-TC |
c.361_362inv |
p.E121S |
Missense |
4/16 |
- |
1 |
12-112891027-G-C |
c.361G>C |
p.E121Q |
Missense |
4/16 |
- |
2 |
12-112891027-G-T |
c.361G>T |
p.E121* |
Nonsense |
4/16 |
- |
1 |
12-112891028-A-C |
c.362A>C |
p.E121A |
Missense |
4/16 |
- |
3 |
12-112891028-A-G |
c.362A>G |
p.E121G |
Missense |
4/16 |
- |
1 |
12-112891028-A-T |
c.362A>T |
p.E121V |
Missense |
4/16 |
- |
1 |
12-112891029-A-C |
c.363A>C |
p.E121D |
Missense |
4/16 |
- |
2 |
12-112891029-A-T |
c.363A>T |
p.E121D |
Missense |
4/16 |
- |
2 |
12-112891030-G-A |
c.364G>A |
p.A122T |
Missense |
4/16 |
- |
5 |
12-112891030-G-C |
c.364G>C |
p.A122P |
Missense |
4/16 |
- |
2 |
12-112891030-GC-AA |
c.364_365delinsAA |
p.A122K |
Missense |
4/16 |
- |
1 |
12-112891030-GCA-AAC |
c.364_366delinsAAC |
p.A122N |
Missense |
4/16 |
- |
1 |
12-112891030-GCA-ATG |
c.364_366delinsATG |
p.A122M |
Missense |
4/16 |
- |
1 |
12-112891030-GCA-CAT |
c.364_366delinsCAT |
p.A122H |
Missense |
4/16 |
- |
1 |
12-112891030-GC-AG |
c.364_365delinsAG |
p.A122R |
Missense |
4/16 |
- |
1 |
12-112891030-GC-AT |
c.364_365delinsAT |
p.A122I |
Missense |
4/16 |
- |
1 |
12-112891030-GCA-TAT |
c.364_366delinsTAT |
p.A122Y |
Missense |
4/16 |
- |
1 |
12-112891030-GCA-TGG |
c.364_366delinsTGG |
p.A122W |
Missense |
4/16 |
- |
1 |
12-112891030-GCA-TGT |
c.364_366delinsTGT |
p.A122C |
Missense |
4/16 |
- |
1 |
12-112891030-GCA-TTT |
c.364_366delinsTTT |
p.A122F |
Missense |
4/16 |
- |
1 |
12-112891030-GC-CA |
c.364_365delinsCA |
p.A122Q |
Missense |
4/16 |
- |
1 |
12-112891030-GC-CT |
c.364_365delinsCT |
p.A122L |
Missense |
4/16 |
- |
1 |
12-112891030-G-T |
c.364G>T |
p.A122S |
Missense |
4/16 |
- |
2 |
12-112891031-C-A |
c.365C>A |
p.A122E |
Missense |
4/16 |
- |
1 |
12-112891031-CA-AC |
c.365_366delinsAC |
p.A122D |
Missense |
4/16 |
- |
1 |
12-112891031-C-G |
c.365C>G |
p.A122G |
Missense |
4/16 |
- |
3 |
12-112891031-C-T |
c.365C>T |
p.A122V |
Missense |
4/16 |
- |
4 |
12-112891033-G-A |
c.367G>A |
p.E123K |
Missense |
4/16 |
- |
1 |
12-112891033-GA-AC |
c.367_368delinsAC |
p.E123T |
Missense |
4/16 |
- |
1 |
12-112891033-GA-AG |
c.367_368delinsAG |
p.E123R |
Missense |
4/16 |
- |
1 |
12-112891033-GA-AT |
c.367_368delinsAT |
p.E123M |
Missense |
4/16 |
- |
1 |
12-112891033-GA-CC |
c.367_368delinsCC |
p.E123P |
Missense |
4/16 |
- |
1 |
12-112891033-GA-CT |
c.367_368delinsCT |
p.E123L |
Missense |
4/16 |
- |
1 |
12-112891033-GAG-AAC |
c.367_369delinsAAC |
p.E123N |
Missense |
4/16 |
- |
1 |
12-112891033-GAG-ATC |
c.367_369delinsATC |
p.E123I |
Missense |
4/16 |
- |
1 |
12-112891033-GAG-CAT |
c.367_369delinsCAT |
p.E123H |
Missense |
4/16 |
- |
1 |
12-112891033-GAG-TAT |
c.367_369delinsTAT |
p.E123Y |
Missense |
4/16 |
- |
1 |
12-112891033-GAG-TGT |
c.367_369delinsTGT |
p.E123C |
Missense |
4/16 |
- |
1 |
12-112891033-GAG-TTT |
c.367_369delinsTTT |
p.E123F |
Missense |
4/16 |
- |
1 |
12-112891033-GA-TC |
c.367_368inv |
p.E123S |
Missense |
4/16 |
- |
1 |
12-112891033-GA-TG |
c.367_368delinsTG |
p.E123W |
Missense |
4/16 |
- |
1 |
12-112891033-G-C |
c.367G>C |
p.E123Q |
Missense |
4/16 |
- |
2 |
12-112891034-A-C |
c.368A>C |
p.E123A |
Missense |
4/16 |
- |
2 |
12-112891034-A-G |
c.368A>G |
p.E123G |
Missense |
4/16 |
- |
1 |
12-112891034-A-T |
c.368A>T |
p.E123V |
Missense |
4/16 |
- |
1 |
12-112891035-G-C |
c.369G>C |
p.E123D |
Missense |
4/16 |
- |
7 |
12-112891035-G-T |
c.369G>T |
p.E123D |
Missense |
4/16 |
- |
15 |
12-112891036-AAA-CAT |
c.370_372delinsCAT |
p.K124H |
Missense |
4/16 |
- |
1 |
12-112891036-AAA-GAC |
c.370_372delinsGAC |
p.K124D |
Missense |
4/16 |
- |
2 |
12-112891036-AAA-TAT |
c.370_372delinsTAT |
p.K124Y |
Missense |
4/16 |
- |
1 |
12-112891036-AAA-TGG |
c.370_372delinsTGG |
p.K124W |
Missense |
4/16 |
- |
1 |
12-112891036-AAA-TGT |
c.370_372delinsTGT |
p.K124C |
Missense |
4/16 |
- |
1 |
12-112891036-AAA-TTT |
c.370_372inv |
p.K124F |
Missense |
4/16 |
- |
1 |
12-112891036-AA-CC |
c.370_371delinsCC |
p.K124P |
Missense |
4/16 |
- |
1 |
12-112891036-AA-CT |
c.370_371delinsCT |
p.K124L |
Missense |
4/16 |
- |
1 |
12-112891036-AA-GC |
c.370_371delinsGC |
p.K124A |
Missense |
4/16 |
- |
4 |
12-112891036-AA-GG |
c.370_371delinsGG |
p.K124G |
Missense |
4/16 |
- |
1 |
12-112891036-AA-GT |
c.370_371delinsGT |
p.K124V |
Missense |
4/16 |
- |
1 |
12-112891036-A-C |
c.370A>C |
p.K124Q |
Missense |
4/16 |
- |
1 |
12-112891036-A-G |
c.370A>G |
p.K124E |
Missense |
4/16 |
- |
3 |
12-112891037-AA-GC |
c.371_372delinsGC |
p.K124S |
Missense |
4/16 |
- |
1 |
12-112891037-AA-TG |
c.371_372delinsTG |
p.K124M |
Missense |
4/16 |
- |
1 |
12-112891037-A-C |
c.371A>C |
p.K124T |
Missense |
4/16 |
- |
2 |
12-112891037-A-G |
c.371A>G |
p.K124R |
Missense |
4/16 |
- |
2 |
12-112891037-A-T |
c.371A>T |
p.K124I |
Missense |
4/16 |
- |
1 |
12-112891038-A-C |
c.372A>C |
p.K124N |
Missense |
4/16 |
- |
1 |
12-112891038-A-T |
c.372A>T |
p.K124N |
Missense |
4/16 |
- |
1 |
12-112891039-T-A |
c.373T>A |
p.L125I |
Missense |
4/16 |
- |
2 |
12-112891039-T-G |
c.373T>G |
p.L125V |
Missense |
4/16 |
- |
3 |
12-112891039-TT-AA |
c.373_374inv |
p.L125K |
Missense |
4/16 |
- |
1 |
12-112891039-TTA-AAC |
c.373_375delinsAAC |
p.L125N |
Missense |
4/16 |
- |
1 |
12-112891039-TTA-ATG |
c.373_375delinsATG |
p.L125M |
Missense |
4/16 |
- |
1 |
12-112891039-TT-AC |
c.373_374delinsAC |
p.L125T |
Missense |
4/16 |
- |
1 |
12-112891039-TTA-CAT |
c.373_375delinsCAT |
p.L125H |
Missense |
4/16 |
- |
1 |
12-112891039-TT-AG |
c.373_374delinsAG |
p.L125R |
Missense |
4/16 |
- |
1 |
12-112891039-TTA-GAC |
c.373_375delinsGAC |
p.L125D |
Missense |
4/16 |
- |
1 |
12-112891039-TT-CA |
c.373_374delinsCA |
p.L125Q |
Missense |
4/16 |
- |
1 |
12-112891039-TT-CC |
c.373_374delinsCC |
p.L125P |
Missense |
4/16 |
- |
1 |
12-112891039-TT-GA |
c.373_374delinsGA |
p.L125E |
Missense |
4/16 |
- |
1 |
12-112891039-TT-GC |
c.373_374delinsGC |
p.L125A |
Missense |
4/16 |
- |
2 |
12-112891039-TT-GG |
c.373_374delinsGG |
p.L125G |
Missense |
4/16 |
- |
1 |
12-112891040-TA-AT |
c.374_375delinsAT |
p.L125Y |
Missense |
4/16 |
- |
1 |
12-112891040-TA-GG |
c.374_375delinsGG |
p.L125W |
Missense |
4/16 |
- |
1 |
12-112891040-TA-GT |
c.374_375delinsGT |
p.L125C |
Missense |
4/16 |
- |
1 |
12-112891040-T-C |
c.374T>C |
p.L125S |
Missense |
4/16 |
- |
1 |
12-112891040-T-G |
c.374T>G |
p.L125* |
Nonsense |
4/16 |
- |
1 |
12-112891041-A-C |
c.375A>C |
p.L125F |
Missense |
4/16 |
- |
1 |
12-112891041-A-T |
c.375A>T |
p.L125F |
Missense |
4/16 |
- |
1 |
12-112891042-T-A |
c.376T>A |
p.L126I |
Missense |
4/16 |
- |
1 |
12-112891042-T-G |
c.376T>G |
p.L126V |
Missense |
4/16 |
- |
1 |
12-112891042-TT-AA |
c.376_377inv |
p.L126K |
Missense |
4/16 |
- |
1 |
12-112891042-TTA-AAC |
c.376_378delinsAAC |
p.L126N |
Missense |
4/16 |
- |
1 |
12-112891042-TTA-ATG |
c.376_378delinsATG |
p.L126M |
Missense |
4/16 |
- |
1 |
12-112891042-TT-AC |
c.376_377delinsAC |
p.L126T |
Missense |
4/16 |
- |
1 |
12-112891042-TTA-CAT |
c.376_378delinsCAT |
p.L126H |
Missense |
4/16 |
- |
1 |
12-112891042-TT-AG |
c.376_377delinsAG |
p.L126R |
Missense |
4/16 |
- |
1 |
12-112891042-TTA-GAC |
c.376_378delinsGAC |
p.L126D |
Missense |
4/16 |
- |
1 |
12-112891042-TT-CA |
c.376_377delinsCA |
p.L126Q |
Missense |
4/16 |
- |
1 |
12-112891042-TT-CC |
c.376_377delinsCC |
p.L126P |
Missense |
4/16 |
- |
1 |
12-112891042-TT-GA |
c.376_377delinsGA |
p.L126E |
Missense |
4/16 |
- |
1 |
12-112891042-TT-GC |
c.376_377delinsGC |
p.L126A |
Missense |
4/16 |
- |
3 |
12-112891042-TT-GG |
c.376_377delinsGG |
p.L126G |
Missense |
4/16 |
- |
1 |
12-112891043-TA-AT |
c.377_378delinsAT |
p.L126Y |
Missense |
4/16 |
- |
1 |
12-112891043-TA-GG |
c.377_378delinsGG |
p.L126W |
Missense |
4/16 |
- |
1 |
12-112891043-TA-GT |
c.377_378delinsGT |
p.L126C |
Missense |
4/16 |
- |
1 |
12-112891043-T-C |
c.377T>C |
p.L126S |
Missense |
4/16 |
- |
3 |
12-112891044-A-C |
c.378A>C |
p.L126F |
Missense |
4/16 |
- |
2 |
12-112891044-A-T |
c.378A>T |
p.L126F |
Missense |
4/16 |
- |
2 |
12-112891045-A-C |
c.379A>C |
p.T127P |
Missense |
4/16 |
- |
2 |
12-112891045-AC-CA |
c.379_380delinsCA |
p.T127H |
Missense |
4/16 |
- |
1 |
12-112891045-AC-CT |
c.379_380delinsCT |
p.T127L |
Missense |
4/16 |
- |
1 |
12-112891045-AC-GA |
c.379_380delinsGA |
p.T127D |
Missense |
4/16 |
- |
1 |
12-112891045-AC-GG |
c.379_380delinsGG |
p.T127G |
Missense |
4/16 |
- |
1 |
12-112891045-AC-GT |
c.379_380inv |
p.T127V |
Missense |
4/16 |
- |
1 |
12-112891045-AC-TA |
c.379_380delinsTA |
p.T127Y |
Missense |
4/16 |
- |
1 |
12-112891045-ACT-CAA |
c.379_381delinsCAA |
p.T127Q |
Missense |
4/16 |
- |
1 |
12-112891045-AC-TG |
c.379_380delinsTG |
p.T127C |
Missense |
4/16 |
- |
1 |
12-112891045-ACT-GAG |
c.379_381delinsGAG |
p.T127E |
Missense |
4/16 |
- |
1 |
12-112891045-AC-TT |
c.379_380delinsTT |
p.T127F |
Missense |
4/16 |
- |
1 |
12-112891045-ACT-TGG |
c.379_381delinsTGG |
p.T127W |
Missense |
4/16 |
- |
1 |
12-112891045-A-G |
c.379A>G |
p.T127A |
Missense |
4/16 |
- |
2 |
12-112891045-A-T |
c.379A>T |
p.T127S |
Missense |
4/16 |
- |
3 |
12-112891046-C-A |
c.380C>A |
p.T127N |
Missense |
4/16 |
- |
2 |
12-112891046-C-G |
c.380C>G |
p.T127S |
Missense |
4/16 |
- |
3 |
12-112891046-C-T |
c.380C>T |
p.T127I |
Missense |
4/16 |
- |
6 |
12-112891046-CT-AG |
c.380_381inv |
p.T127K |
Missense |
4/16 |
- |
1 |
12-112891046-CT-GG |
c.380_381delinsGG |
p.T127R |
Missense |
4/16 |
- |
1 |
12-112891046-CT-TG |
c.380_381delinsTG |
p.T127M |
Missense |
4/16 |
- |
1 |
12-112891048-G-A |
c.382G>A |
p.E128K |
Missense |
4/16 |
- |
1 |
12-112891048-GAA-AAC |
c.382_384delinsAAC |
p.E128N |
Missense |
4/16 |
- |
1 |
12-112891048-GAA-ATG |
c.382_384delinsATG |
p.E128M |
Missense |
4/16 |
- |
1 |
12-112891048-GA-AC |
c.382_383delinsAC |
p.E128T |
Missense |
4/16 |
- |
1 |
12-112891048-GAA-CAT |
c.382_384delinsCAT |
p.E128H |
Missense |
4/16 |
- |
1 |
12-112891048-GA-AG |
c.382_383delinsAG |
p.E128R |
Missense |
4/16 |
- |
1 |
12-112891048-GA-AT |
c.382_383delinsAT |
p.E128I |
Missense |
4/16 |
- |
1 |
12-112891048-GAA-TAT |
c.382_384delinsTAT |
p.E128Y |
Missense |
4/16 |
- |
1 |
12-112891048-GAA-TGG |
c.382_384delinsTGG |
p.E128W |
Missense |
4/16 |
- |
1 |
12-112891048-GAA-TGT |
c.382_384delinsTGT |
p.E128C |
Missense |
4/16 |
- |
1 |
12-112891048-GAA-TTT |
c.382_384delinsTTT |
p.E128F |
Missense |
4/16 |
- |
1 |
12-112891048-GA-CC |
c.382_383delinsCC |
p.E128P |
Missense |
4/16 |
- |
1 |
12-112891048-GA-CT |
c.382_383delinsCT |
p.E128L |
Missense |
4/16 |
- |
1 |
12-112891048-GA-TC |
c.382_383inv |
p.E128S |
Missense |
4/16 |
- |
1 |
12-112891048-G-C |
c.382G>C |
p.E128Q |
Missense |
4/16 |
- |
1 |
12-112891048-G-T |
c.382G>T |
p.E128* |
Nonsense |
4/16 |
- |
1 |
12-112891049-A-C |
c.383A>C |
p.E128A |
Missense |
4/16 |
- |
2 |
12-112891049-A-G |
c.383A>G |
p.E128G |
Missense |
4/16 |
- |
1 |
12-112891049-A-T |
c.383A>T |
p.E128V |
Missense |
4/16 |
- |
1 |
12-112891050-A-C |
c.384A>C |
p.E128D |
Missense |
4/16 |
- |
1 |
12-112891050-A-T |
c.384A>T |
p.E128D |
Missense |
4/16 |
- |
1 |
12-112891054-G-A |
c.388G>A |
p.G130R |
Missense |
4/16 |
- |
1 |
12-112891054-G-C |
c.388G>C |
p.G130R |
Missense |
4/16 |
- |
1 |
12-112891054-GG-AA |
c.388_389delinsAA |
p.G130K |
Missense |
4/16 |
- |
1 |
12-112891054-GGA-AAC |
c.388_390delinsAAC |
p.G130N |
Missense |
4/16 |
- |
1 |
12-112891054-GGA-AGC |
c.388_390delinsAGC |
p.G130S |
Missense |
4/16 |
- |
1 |
12-112891054-GGA-ATG |
c.388_390delinsATG |
p.G130M |
Missense |
4/16 |
- |
1 |
12-112891054-GG-AC |
c.388_389delinsAC |
p.G130T |
Missense |
4/16 |
- |
1 |
12-112891054-GGA-CAT |
c.388_390delinsCAT |
p.G130H |
Missense |
4/16 |
- |
1 |
12-112891054-GG-AT |
c.388_389delinsAT |
p.G130I |
Missense |
4/16 |
- |
1 |
12-112891054-GGA-TAT |
c.388_390delinsTAT |
p.G130Y |
Missense |
4/16 |
- |
1 |
12-112891054-GGA-TGG |
c.388_390delinsTGG |
p.G130W |
Missense |
4/16 |
- |
1 |
12-112891054-GGA-TGT |
c.388_390delinsTGT |
p.G130C |
Missense |
4/16 |
- |
1 |
12-112891054-GGA-TTT |
c.388_390delinsTTT |
p.G130F |
Missense |
4/16 |
- |
1 |
12-112891054-GG-CA |
c.388_389delinsCA |
p.G130Q |
Missense |
4/16 |
- |
1 |
12-112891054-GG-CC |
c.388_389inv |
p.G130P |
Missense |
4/16 |
- |
1 |
12-112891054-GG-CT |
c.388_389delinsCT |
p.G130L |
Missense |
4/16 |
- |
1 |
12-112891055-G-A |
c.389G>A |
p.G130E |
Missense |
4/16 |
- |
2 |
12-112891055-GA-AC |
c.389_390delinsAC |
p.G130D |
Missense |
4/16 |
- |
1 |
12-112891055-G-C |
c.389G>C |
p.G130A |
Missense |
4/16 |
- |
1 |
12-112891055-G-T |
c.389G>T |
p.G130V |
Missense |
4/16 |
- |
1 |
12-112891057-AAA-CAT |
c.391_393delinsCAT |
p.K131H |
Missense |
4/16 |
- |
1 |
12-112891057-AAA-GAC |
c.391_393delinsGAC |
p.K131D |
Missense |
4/16 |
- |
1 |
12-112891057-AAA-TAT |
c.391_393delinsTAT |
p.K131Y |
Missense |
4/16 |
- |
1 |
12-112891057-AAA-TGG |
c.391_393delinsTGG |
p.K131W |
Missense |
4/16 |
- |
1 |
12-112891057-AAA-TGT |
c.391_393delinsTGT |
p.K131C |
Missense |
4/16 |
- |
1 |
12-112891057-AAA-TTT |
c.391_393inv |
p.K131F |
Missense |
4/16 |
- |
1 |
12-112891057-AA-CC |
c.391_392delinsCC |
p.K131P |
Missense |
4/16 |
- |
1 |
12-112891057-AA-CT |
c.391_392delinsCT |
p.K131L |
Missense |
4/16 |
- |
1 |
12-112891057-AA-GC |
c.391_392delinsGC |
p.K131A |
Missense |
4/16 |
- |
2 |
12-112891057-AA-GG |
c.391_392delinsGG |
p.K131G |
Missense |
4/16 |
- |
1 |
12-112891057-AA-GT |
c.391_392delinsGT |
p.K131V |
Missense |
4/16 |
- |
1 |
12-112891057-A-C |
c.391A>C |
p.K131Q |
Missense |
4/16 |
- |
1 |
12-112891057-A-G |
c.391A>G |
p.K131E |
Missense |
4/16 |
- |
4 |
12-112891058-AA-GC |
c.392_393delinsGC |
p.K131S |
Missense |
4/16 |
- |
1 |
12-112891058-AA-TG |
c.392_393delinsTG |
p.K131M |
Missense |
4/16 |
- |
1 |
12-112891058-A-C |
c.392A>C |
p.K131T |
Missense |
4/16 |
- |
1 |
12-112891058-A-G |
c.392A>G |
p.K131R |
Missense |
4/16 |
- |
5 |
12-112891058-A-T |
c.392A>T |
p.K131I |
Missense |
4/16 |
- |
1 |
12-112891059-A-C |
c.393A>C |
p.K131N |
Missense |
4/16 |
- |
1 |
12-112891059-A-T |
c.393A>T |
p.K131N |
Missense |
4/16 |
- |
1 |
12-112891060-C-A |
c.394C>A |
p.H132N |
Missense |
4/16 |
- |
1 |
12-112891060-CA-AC |
c.394_395delinsAC |
p.H132T |
Missense |
4/16 |
- |
1 |
12-112891060-CA-AG |
c.394_395delinsAG |
p.H132S |
Missense |
4/16 |
- |
1 |
12-112891060-CA-AT |
c.394_395delinsAT |
p.H132I |
Missense |
4/16 |
- |
1 |
12-112891060-CA-GC |
c.394_395delinsGC |
p.H132A |
Missense |
4/16 |
- |
2 |
12-112891060-CA-GG |
c.394_395delinsGG |
p.H132G |
Missense |
4/16 |
- |
1 |
12-112891060-CA-GT |
c.394_395delinsGT |
p.H132V |
Missense |
4/16 |
- |
1 |
12-112891060-CAT-AAG |
c.394_396delinsAAG |
p.H132K |
Missense |
4/16 |
- |
1 |
12-112891060-CAT-ATG |
c.394_396inv |
p.H132M |
Missense |
4/16 |
- |
1 |
12-112891060-CA-TG |
c.394_395inv |
p.H132C |
Missense |
4/16 |
- |
1 |
12-112891060-CAT-GAG |
c.394_396delinsGAG |
p.H132E |
Missense |
4/16 |
- |
1 |
12-112891060-CA-TT |
c.394_395delinsTT |
p.H132F |
Missense |
4/16 |
- |
1 |
12-112891060-CAT-TGG |
c.394_396delinsTGG |
p.H132W |
Missense |
4/16 |
- |
1 |
12-112891060-C-G |
c.394C>G |
p.H132D |
Missense |
4/16 |
- |
1 |
12-112891060-C-T |
c.394C>T |
p.H132Y |
Missense |
4/16 |
- |
1 |
12-112891061-A-C |
c.395A>C |
p.H132P |
Missense |
4/16 |
- |
1 |
12-112891061-A-G |
c.395A>G |
p.H132R |
Missense |
4/16 |
- |
2 |
12-112891061-A-T |
c.395A>T |
p.H132L |
Missense |
4/16 |
- |
1 |
12-112891062-T-A |
c.396T>A |
p.H132Q |
Missense |
4/16 |
- |
1 |
12-112891062-T-C |
c.396T>C |
p.H132= |
Synonymous |
4/16 |
- |
2 |
12-112891062-T-G |
c.396T>G |
p.H132Q |
Missense |
4/16 |
- |
1 |
12-112891063-G-A |
c.397G>A |
p.G133S |
Missense |
4/16 |
- |
2 |
12-112891063-G-C |
c.397G>C |
p.G133R |
Missense |
4/16 |
- |
1 |
12-112891063-GG-AA |
c.397_398delinsAA |
p.G133N |
Missense |
4/16 |
- |
1 |
12-112891063-GG-AC |
c.397_398delinsAC |
p.G133T |
Missense |
4/16 |
- |
1 |
12-112891063-GG-AT |
c.397_398delinsAT |
p.G133I |
Missense |
4/16 |
- |
1 |
12-112891063-GG-CA |
c.397_398delinsCA |
p.G133H |
Missense |
4/16 |
- |
1 |
12-112891063-GG-CC |
c.397_398inv |
p.G133P |
Missense |
4/16 |
- |
1 |
12-112891063-GG-CT |
c.397_398delinsCT |
p.G133L |
Missense |
4/16 |
- |
1 |
12-112891063-GG-TA |
c.397_398delinsTA |
p.G133Y |
Missense |
4/16 |
- |
1 |
12-112891063-GGT-AAG |
c.397_399delinsAAG |
p.G133K |
Missense |
4/16 |
- |
1 |
12-112891063-GGT-ATG |
c.397_399delinsATG |
p.G133M |
Missense |
4/16 |
- |
1 |
12-112891063-GGT-CAA |
c.397_399delinsCAA |
p.G133Q |
Missense |
4/16 |
- |
1 |
12-112891063-GG-TT |
c.397_398delinsTT |
p.G133F |
Missense |
4/16 |
- |
1 |
12-112891063-GGT-TGG |
c.397_399delinsTGG |
p.G133W |
Missense |
4/16 |
- |
1 |
12-112891063-G-T |
c.397G>T |
p.G133C |
Missense |
4/16 |
- |
3 |
12-112891064-G-A |
c.398G>A |
p.G133D |
Missense |
4/16 |
- |
1 |
12-112891064-G-C |
c.398G>C |
p.G133A |
Missense |
4/16 |
- |
1 |
12-112891064-G-T |
c.398G>T |
p.G133V |
Missense |
4/16 |
- |
1 |
12-112891064-GT-AG |
c.398_399delinsAG |
p.G133E |
Missense |
4/16 |
- |
1 |
12-112891065-T-C |
c.399T>C |
p.G133= |
Synonymous |
4/16 |
- |
1 |
12-112891066-A-G |
c.400A>G |
p.S134G |
Missense |
4/16 |
- |
1 |
12-112891066-AG-CA |
c.400_401delinsCA |
p.S134H |
Missense |
4/16 |
- |
1 |
12-112891066-AG-CC |
c.400_401delinsCC |
p.S134P |
Missense |
4/16 |
- |
3 |
12-112891066-AG-CT |
c.400_401inv |
p.S134L |
Missense |
4/16 |
- |
1 |
12-112891066-AG-GA |
c.400_401delinsGA |
p.S134D |
Missense |
4/16 |
- |
1 |
12-112891066-AG-GC |
c.400_401delinsGC |
p.S134A |
Missense |
4/16 |
- |
2 |
12-112891066-AG-GT |
c.400_401delinsGT |
p.S134V |
Missense |
4/16 |
- |
1 |
12-112891066-AG-TA |
c.400_401delinsTA |
p.S134Y |
Missense |
4/16 |
- |
1 |
12-112891066-AGT-CAA |
c.400_402delinsCAA |
p.S134Q |
Missense |
4/16 |
- |
1 |
12-112891066-AGT-GAG |
c.400_402delinsGAG |
p.S134E |
Missense |
4/16 |
- |
1 |
12-112891066-AG-TT |
c.400_401delinsTT |
p.S134F |
Missense |
4/16 |
- |
2 |
12-112891066-AGT-TGG |
c.400_402delinsTGG |
p.S134W |
Missense |
4/16 |
- |
1 |
12-112891066-A-T |
c.400A>T |
p.S134C |
Missense |
4/16 |
- |
1 |
12-112891067-G-A |
c.401G>A |
p.S134N |
Missense |
4/16 |
- |
1 |
12-112891067-G-C |
c.401G>C |
p.S134T |
Missense |
4/16 |
- |
1 |
12-112891067-G-T |
c.401G>T |
p.S134I |
Missense |
4/16 |
- |
1 |
12-112891067-GT-AG |
c.401_402delinsAG |
p.S134K |
Missense |
4/16 |
- |
1 |
12-112891067-GT-TG |
c.401_402delinsTG |
p.S134M |
Missense |
4/16 |
- |
1 |
12-112891066-A-C |
c.400A>C |
p.S134R |
Missense |
4/16 |
- |
1 |
12-112891068-T-A |
c.402T>A |
p.S134R |
Missense |
4/16 |
- |
1 |
12-112891068-T-C |
c.402T>C |
p.S134= |
Synonymous |
4/16 |
- |
1 |
12-112891068-T-G |
c.402T>G |
p.S134R |
Missense |
4/16 |
- |
1 |
12-112891069-T-A |
c.403T>A |
p.F135I |
Missense |
4/16 |
- |
1 |
12-112891069-T-C |
c.403T>C |
p.F135L |
Missense |
4/16 |
- |
1 |
12-112891069-T-G |
c.403T>G |
p.F135V |
Missense |
4/16 |
- |
2 |
12-112891069-TT-AA |
c.403_404inv |
p.F135N |
Missense |
4/16 |
- |
1 |
12-112891069-TT-AC |
c.403_404delinsAC |
p.F135T |
Missense |
4/16 |
- |
1 |
12-112891069-TT-CA |
c.403_404delinsCA |
p.F135H |
Missense |
4/16 |
- |
1 |
12-112891069-TT-CC |
c.403_404delinsCC |
p.F135P |
Missense |
4/16 |
- |
1 |
12-112891069-TT-CG |
c.403_404delinsCG |
p.F135R |
Missense |
4/16 |
- |
1 |
12-112891069-TT-GA |
c.403_404delinsGA |
p.F135D |
Missense |
4/16 |
- |
1 |
12-112891069-TT-GC |
c.403_404delinsGC |
p.F135A |
Missense |
4/16 |
- |
2 |
12-112891069-TT-GG |
c.403_404delinsGG |
p.F135G |
Missense |
4/16 |
- |
1 |
12-112891069-TTT-AAG |
c.403_405delinsAAG |
p.F135K |
Missense |
4/16 |
- |
1 |
12-112891069-TTT-ATG |
c.403_405delinsATG |
p.F135M |
Missense |
4/16 |
- |
1 |
12-112891069-TTT-CAA |
c.403_405delinsCAA |
p.F135Q |
Missense |
4/16 |
- |
1 |
12-112891069-TTT-GAG |
c.403_405delinsGAG |
p.F135E |
Missense |
4/16 |
- |
1 |
12-112891071-T-A |
c.405T>A |
p.F135L |
Missense |
4/16 |
- |
1 |
12-112891071-T-G |
c.405T>G |
p.F135L |
Missense |
4/16 |
- |
1 |
12-112891070-T-A |
c.404T>A |
p.F135Y |
Missense |
4/16 |
- |
1 |
12-112891070-T-C |
c.404T>C |
p.F135S |
Missense |
4/16 |
- |
1 |
12-112891070-T-G |
c.404T>G |
p.F135C |
Missense |
4/16 |
- |
1 |
12-112891070-TT-GG |
c.404_405delinsGG |
p.F135W |
Missense |
4/16 |
- |
1 |
12-112891072-C-A |
c.406C>A |
p.L136I |
Missense |
4/16 |
- |
1 |
12-112891072-C-G |
c.406C>G |
p.L136V |
Missense |
4/16 |
- |
1 |
12-112891072-C-T |
c.406C>T |
p.L136F |
Missense |
4/16 |
- |
1 |
12-112891072-CT-AA |
c.406_407delinsAA |
p.L136N |
Missense |
4/16 |
- |
1 |
12-112891072-CT-AC |
c.406_407delinsAC |
p.L136T |
Missense |
4/16 |
- |
1 |
12-112891072-CT-AG |
c.406_407inv |
p.L136S |
Missense |
4/16 |
- |
1 |
12-112891072-CT-GA |
c.406_407delinsGA |
p.L136D |
Missense |
4/16 |
- |
1 |
12-112891072-CT-GC |
c.406_407delinsGC |
p.L136A |
Missense |
4/16 |
- |
2 |
12-112891072-CT-GG |
c.406_407delinsGG |
p.L136G |
Missense |
4/16 |
- |
1 |
12-112891072-CT-TA |
c.406_407delinsTA |
p.L136Y |
Missense |
4/16 |
- |
1 |
12-112891072-CTT-AAG |
c.406_408inv |
p.L136K |
Missense |
4/16 |
- |
1 |
12-112891072-CTT-ATG |
c.406_408delinsATG |
p.L136M |
Missense |
4/16 |
- |
2 |
12-112891072-CT-TG |
c.406_407delinsTG |
p.L136C |
Missense |
4/16 |
- |
1 |
12-112891072-CTT-GAG |
c.406_408delinsGAG |
p.L136E |
Missense |
4/16 |
- |
1 |
12-112891072-CTT-TGG |
c.406_408delinsTGG |
p.L136W |
Missense |
4/16 |
- |
1 |
12-112891073-T-A |
c.407T>A |
p.L136H |
Missense |
4/16 |
- |
8 |
12-112891073-T-C |
c.407T>C |
p.L136P |
Missense |
4/16 |
- |
1 |
12-112891073-T-G |
c.407T>G |
p.L136R |
Missense |
4/16 |
- |
1 |
12-112891073-TT-AA |
c.407_408inv |
p.L136Q |
Missense |
4/16 |
- |
2 |
12-112891074-T-C |
c.408T>C |
p.L136= |
Synonymous |
4/16 |
- |
1 |
12-112891075-G-A |
c.409G>A |
p.V137I |
Missense |
4/16 |
- |
2 |
12-112891075-G-C |
c.409G>C |
p.V137L |
Missense |
4/16 |
- |
1 |
12-112891075-G-T |
c.409G>T |
p.V137L |
Missense |
4/16 |
- |
1 |
12-112891075-GT-AA |
c.409_410delinsAA |
p.V137K |
Missense |
4/16 |
- |
1 |
12-112891075-GTA-AAC |
c.409_411delinsAAC |
p.V137N |
Missense |
4/16 |
- |
1 |
12-112891075-GTA-ATG |
c.409_411delinsATG |
p.V137M |
Missense |
4/16 |
- |
1 |
12-112891075-GT-AC |
c.409_410inv |
p.V137T |
Missense |
4/16 |
- |
1 |
12-112891075-GTA-CAT |
c.409_411delinsCAT |
p.V137H |
Missense |
4/16 |
- |
1 |
12-112891075-GT-AG |
c.409_410delinsAG |
p.V137R |
Missense |
4/16 |
- |
1 |
12-112891075-GTA-TAT |
c.409_411delinsTAT |
p.V137Y |
Missense |
4/16 |
- |
1 |
12-112891075-GTA-TGG |
c.409_411delinsTGG |
p.V137W |
Missense |
4/16 |
- |
1 |
12-112891075-GTA-TGT |
c.409_411delinsTGT |
p.V137C |
Missense |
4/16 |
- |
1 |
12-112891075-GTA-TTT |
c.409_411delinsTTT |
p.V137F |
Missense |
4/16 |
- |
1 |
12-112891075-GT-CA |
c.409_410delinsCA |
p.V137Q |
Missense |
4/16 |
- |
1 |
12-112891075-GT-CC |
c.409_410delinsCC |
p.V137P |
Missense |
4/16 |
- |
1 |
12-112891075-GT-TC |
c.409_410delinsTC |
p.V137S |
Missense |
4/16 |
- |
1 |
12-112891075-TGTACG-T |
c.409_413del |
p.V137Rfs*17 |
Frameshift |
4/16 |
- |
2 |
12-112891076-T-A |
c.410T>A |
p.V137E |
Missense |
4/16 |
- |
2 |
12-112891076-TA-AC |
c.410_411delinsAC |
p.V137D |
Missense |
4/16 |
- |
1 |
12-112891076-T-C |
c.410T>C |
p.V137A |
Missense |
4/16 |
- |
3 |
12-112891076-T-G |
c.410T>G |
p.V137G |
Missense |
4/16 |
- |
1 |
12-112891078-C-G |
c.412C>G |
p.R138G |
Missense |
4/16 |
- |
3 |
12-112891078-CG-AA |
c.412_413delinsAA |
p.R138K |
Missense |
4/16 |
- |
3 |
12-112891078-CGA-AAC |
c.412_414delinsAAC |
p.R138N |
Missense |
4/16 |
- |
1 |
12-112891078-CGA-AGC |
c.412_414delinsAGC |
p.R138S |
Missense |
4/16 |
- |
1 |
12-112891078-CGA-ATG |
c.412_414delinsATG |
p.R138M |
Missense |
4/16 |
- |
2 |
12-112891078-CG-AC |
c.412_413delinsAC |
p.R138T |
Missense |
4/16 |
- |
1 |
12-112891078-CGA-GAC |
c.412_414delinsGAC |
p.R138D |
Missense |
4/16 |
- |
1 |
12-112891078-CG-AT |
c.412_413delinsAT |
p.R138I |
Missense |
4/16 |
- |
1 |
12-112891078-CGA-TAT |
c.412_414delinsTAT |
p.R138Y |
Missense |
4/16 |
- |
1 |
12-112891078-CGA-TGG |
c.412_414delinsTGG |
p.R138W |
Missense |
4/16 |
- |
1 |
12-112891078-CGA-TGT |
c.412_414delinsTGT |
p.R138C |
Missense |
4/16 |
- |
1 |
12-112891078-CGA-TTT |
c.412_414delinsTTT |
p.R138F |
Missense |
4/16 |
- |
1 |
12-112891078-CG-GA |
c.412_413delinsGA |
p.R138E |
Missense |
4/16 |
- |
3 |
12-112891078-CG-GC |
c.412_413delinsGC |
p.R138A |
Missense |
4/16 |
- |
5 |
12-112891078-CG-GT |
c.412_413delinsGT |
p.R138V |
Missense |
4/16 |
- |
1 |
12-112891078-C-T |
c.412C>T |
p.R138* |
Nonsense |
4/16 |
- |
5 |
12-112891079-G-A |
c.413G>A |
p.R138Q |
Missense |
4/16 |
- |
3 |
12-112891079-GA-AT |
c.413_414delinsAT |
p.R138H |
Missense |
4/16 |
- |
1 |
12-112891079-G-C |
c.413G>C |
p.R138P |
Missense |
4/16 |
- |
1 |
12-112891079-G-T |
c.413G>T |
p.R138L |
Missense |
4/16 |
- |
2 |
12-112891081-G-A |
c.415G>A |
p.E139K |
Missense |
4/16 |
- |
5 |
12-112891081-GA-AC |
c.415_416delinsAC |
p.E139T |
Missense |
4/16 |
- |
1 |
12-112891081-GA-AG |
c.415_416delinsAG |
p.E139R |
Missense |
4/16 |
- |
1 |
12-112891081-GA-AT |
c.415_416delinsAT |
p.E139M |
Missense |
4/16 |
- |
1 |
12-112891081-GA-CC |
c.415_416delinsCC |
p.E139P |
Missense |
4/16 |
- |
1 |
12-112891081-GA-CT |
c.415_416delinsCT |
p.E139L |
Missense |
4/16 |
- |
1 |
12-112891081-GAG-AAC |
c.415_417delinsAAC |
p.E139N |
Missense |
4/16 |
- |
2 |
12-112891081-GAG-ATC |
c.415_417delinsATC |
p.E139I |
Missense |
4/16 |
- |
1 |
12-112891081-GAG-CAT |
c.415_417delinsCAT |
p.E139H |
Missense |
4/16 |
- |
1 |
12-112891081-GAG-TAT |
c.415_417delinsTAT |
p.E139Y |
Missense |
4/16 |
- |
1 |
12-112891081-GAG-TGT |
c.415_417delinsTGT |
p.E139C |
Missense |
4/16 |
- |
1 |
12-112891081-GAG-TTT |
c.415_417delinsTTT |
p.E139F |
Missense |
4/16 |
- |
1 |
12-112891081-GA-TC |
c.415_416inv |
p.E139S |
Missense |
4/16 |
- |
1 |
12-112891081-GA-TG |
c.415_416delinsTG |
p.E139W |
Missense |
4/16 |
- |
1 |
12-112891081-G-C |
c.415G>C |
p.E139Q |
Missense |
4/16 |
- |
1 |
12-112891082-A-C |
c.416A>C |
p.E139A |
Missense |
4/16 |
- |
1 |
12-112891082-A-G |
c.416A>G |
p.E139G |
Missense |
4/16 |
- |
4 |
12-112891082-A-T |
c.416A>T |
p.E139V |
Missense |
4/16 |
- |
1 |
12-112891082-A-AG |
c.417dup |
p.S140Efs*16 |
Frameshift |
4/16 |
- |
1 |
12-112891083-G-C |
c.417G>C |
p.E139D |
Missense |
4/16 |
- |
80 |
12-112891083-G-T |
c.417G>T |
p.E139D |
Missense |
4/16 |
- |
37 |
12-112891084-A-G |
c.418A>G |
p.S140G |
Missense |
4/16 |
- |
1 |
12-112891084-AG-CA |
c.418_419delinsCA |
p.S140H |
Missense |
4/16 |
- |
1 |
12-112891084-AG-CC |
c.418_419delinsCC |
p.S140P |
Missense |
4/16 |
- |
1 |
12-112891084-AGC-CAA |
c.418_420delinsCAA |
p.S140Q |
Missense |
4/16 |
- |
1 |
12-112891084-AGC-GAG |
c.418_420delinsGAG |
p.S140E |
Missense |
4/16 |
- |
1 |
12-112891084-AG-CT |
c.418_419inv |
p.S140L |
Missense |
4/16 |
- |
1 |
12-112891084-AGC-TGG |
c.418_420delinsTGG |
p.S140W |
Missense |
4/16 |
- |
1 |
12-112891084-AG-GA |
c.418_419delinsGA |
p.S140D |
Missense |
4/16 |
- |
1 |
12-112891084-AG-GC |
c.418_419delinsGC |
p.S140A |
Missense |
4/16 |
- |
1 |
12-112891084-AG-GT |
c.418_419delinsGT |
p.S140V |
Missense |
4/16 |
- |
1 |
12-112891084-AG-TA |
c.418_419delinsTA |
p.S140Y |
Missense |
4/16 |
- |
1 |
12-112891084-AG-TT |
c.418_419delinsTT |
p.S140F |
Missense |
4/16 |
- |
3 |
12-112891084-A-T |
c.418A>T |
p.S140C |
Missense |
4/16 |
- |
3 |
12-112891085-G-A |
c.419G>A |
p.S140N |
Missense |
4/16 |
- |
3 |
12-112891085-G-C |
c.419G>C |
p.S140T |
Missense |
4/16 |
- |
1 |
12-112891085-GC-AG |
c.419_420delinsAG |
p.S140K |
Missense |
4/16 |
- |
1 |
12-112891085-GC-TG |
c.419_420delinsTG |
p.S140M |
Missense |
4/16 |
- |
1 |
12-112891085-G-T |
c.419G>T |
p.S140I |
Missense |
4/16 |
- |
2 |
12-112891084-A-C |
c.418A>C |
p.S140R |
Missense |
4/16 |
- |
3 |
12-112891086-C-A |
c.420C>A |
p.S140R |
Missense |
4/16 |
- |
3 |
12-112891086-C-G |
c.420C>G |
p.S140R |
Missense |
4/16 |
- |
3 |
12-112891087-C-A |
c.421C>A |
p.Q141K |
Missense |
4/16 |
- |
1 |
12-112891087-CA-AC |
c.421_422delinsAC |
p.Q141T |
Missense |
4/16 |
- |
1 |
12-112891087-CA-AT |
c.421_422delinsAT |
p.Q141M |
Missense |
4/16 |
- |
1 |
12-112891087-CAG-AAC |
c.421_423delinsAAC |
p.Q141N |
Missense |
4/16 |
- |
1 |
12-112891087-CAG-ATC |
c.421_423delinsATC |
p.Q141I |
Missense |
4/16 |
- |
1 |
12-112891087-CA-GC |
c.421_422delinsGC |
p.Q141A |
Missense |
4/16 |
- |
1 |
12-112891087-CA-GG |
c.421_422delinsGG |
p.Q141G |
Missense |
4/16 |
- |
1 |
12-112891087-CAG-GAC |
c.421_423delinsGAC |
p.Q141D |
Missense |
4/16 |
- |
1 |
12-112891087-CA-GT |
c.421_422delinsGT |
p.Q141V |
Missense |
4/16 |
- |
1 |
12-112891087-CAG-TAT |
c.421_423delinsTAT |
p.Q141Y |
Missense |
4/16 |
- |
1 |
12-112891087-CAG-TGT |
c.421_423delinsTGT |
p.Q141C |
Missense |
4/16 |
- |
1 |
12-112891087-CAG-TTT |
c.421_423delinsTTT |
p.Q141F |
Missense |
4/16 |
- |
1 |
12-112891087-CA-TC |
c.421_422delinsTC |
p.Q141S |
Missense |
4/16 |
- |
1 |
12-112891087-CA-TG |
c.421_422inv |
p.Q141W |
Missense |
4/16 |
- |
1 |
12-112891087-C-G |
c.421C>G |
p.Q141E |
Missense |
4/16 |
- |
1 |
12-112891088-A-C |
c.422A>C |
p.Q141P |
Missense |
4/16 |
- |
1 |
12-112891088-A-G |
c.422A>G |
p.Q141R |
Missense |
4/16 |
- |
2 |
12-112891088-A-T |
c.422A>T |
p.Q141L |
Missense |
4/16 |
- |
1 |
12-112891089-G-C |
c.423G>C |
p.Q141H |
Missense |
4/16 |
- |
1 |
12-112891089-G-T |
c.423G>T |
p.Q141H |
Missense |
4/16 |
- |
1 |
12-112891089-G-GA |
c.424dup |
p.S142Kfs*14 |
Frameshift |
4/16 |
- |
1 |
12-112891090-A-G |
c.424A>G |
p.S142G |
Missense |
4/16 |
- |
2 |
12-112891090-AG-CA |
c.424_425delinsCA |
p.S142H |
Missense |
4/16 |
- |
1 |
12-112891090-AG-CC |
c.424_425delinsCC |
p.S142P |
Missense |
4/16 |
- |
2 |
12-112891090-AGC-CAA |
c.424_426delinsCAA |
p.S142Q |
Missense |
4/16 |
- |
1 |
12-112891090-AGC-GAG |
c.424_426delinsGAG |
p.S142E |
Missense |
4/16 |
- |
1 |
12-112891090-AG-CT |
c.424_425inv |
p.S142L |
Missense |
4/16 |
- |
1 |
12-112891090-AGC-TGA |
c.424_426delinsTGA |
p.S142* |
Nonsense |
4/16 |
- |
1 |
12-112891090-AGC-TGG |
c.424_426delinsTGG |
p.S142W |
Missense |
4/16 |
- |
1 |
12-112891090-AG-GA |
c.424_425delinsGA |
p.S142D |
Missense |
4/16 |
- |
1 |
12-112891090-AG-GC |
c.424_425delinsGC |
p.S142A |
Missense |
4/16 |
- |
1 |
12-112891090-AG-GT |
c.424_425delinsGT |
p.S142V |
Missense |
4/16 |
- |
1 |
12-112891090-AG-TA |
c.424_425delinsTA |
p.S142Y |
Missense |
4/16 |
- |
1 |
12-112891090-AG-TT |
c.424_425delinsTT |
p.S142F |
Missense |
4/16 |
- |
1 |
12-112891090-A-T |
c.424A>T |
p.S142C |
Missense |
4/16 |
- |
1 |
12-112891091-G-A |
c.425G>A |
p.S142N |
Missense |
4/16 |
- |
3 |
12-112891091-G-C |
c.425G>C |
p.S142T |
Missense |
4/16 |
- |
1 |
12-112891091-GC-AG |
c.425_426delinsAG |
p.S142K |
Missense |
4/16 |
- |
1 |
12-112891091-GC-TG |
c.425_426delinsTG |
p.S142M |
Missense |
4/16 |
- |
1 |
12-112891091-G-T |
c.425G>T |
p.S142I |
Missense |
4/16 |
- |
1 |
12-112891090-A-C |
c.424A>C |
p.S142R |
Missense |
4/16 |
- |
1 |
12-112891092-C-A |
c.426C>A |
p.S142R |
Missense |
4/16 |
- |
1 |
12-112891092-C-G |
c.426C>G |
p.S142R |
Missense |
4/16 |
- |
1 |
12-112891093-C-A |
c.427C>A |
p.H143N |
Missense |
4/16 |
- |
1 |
12-112891093-CA-AC |
c.427_428delinsAC |
p.H143T |
Missense |
4/16 |
- |
1 |
12-112891093-CA-AG |
c.427_428delinsAG |
p.H143S |
Missense |
4/16 |
- |
1 |
12-112891093-CA-AT |
c.427_428delinsAT |
p.H143I |
Missense |
4/16 |
- |
1 |
12-112891093-CAC-AAG |
c.427_429delinsAAG |
p.H143K |
Missense |
4/16 |
- |
1 |
12-112891093-CAC-ATG |
c.427_429delinsATG |
p.H143M |
Missense |
4/16 |
- |
1 |
12-112891093-CAC-GAG |
c.427_429delinsGAG |
p.H143E |
Missense |
4/16 |
- |
1 |
12-112891093-CAC-TGG |
c.427_429delinsTGG |
p.H143W |
Missense |
4/16 |
- |
1 |
12-112891093-CA-GC |
c.427_428delinsGC |
p.H143A |
Missense |
4/16 |
- |
2 |
12-112891093-CA-GG |
c.427_428delinsGG |
p.H143G |
Missense |
4/16 |
- |
1 |
12-112891093-CA-GT |
c.427_428delinsGT |
p.H143V |
Missense |
4/16 |
- |
1 |
12-112891093-CA-TG |
c.427_428inv |
p.H143C |
Missense |
4/16 |
- |
1 |
12-112891093-CA-TT |
c.427_428delinsTT |
p.H143F |
Missense |
4/16 |
- |
1 |
12-112891093-C-G |
c.427C>G |
p.H143D |
Missense |
4/16 |
- |
1 |
12-112891093-C-T |
c.427C>T |
p.H143Y |
Missense |
4/16 |
- |
3 |
12-112891094-A-C |
c.428A>C |
p.H143P |
Missense |
4/16 |
- |
1 |
12-112891094-A-G |
c.428A>G |
p.H143R |
Missense |
4/16 |
- |
2 |
12-112891094-A-T |
c.428A>T |
p.H143L |
Missense |
4/16 |
- |
1 |
12-112891095-C-A |
c.429C>A |
p.H143Q |
Missense |
4/16 |
- |
2 |
12-112891095-C-G |
c.429C>G |
p.H143Q |
Missense |
4/16 |
- |
1 |
12-112891096-C-A |
c.430C>A |
p.P144T |
Missense |
4/16 |
- |
1 |
12-112891096-CC-AA |
c.430_431delinsAA |
p.P144N |
Missense |
4/16 |
- |
1 |
12-112891096-CC-AT |
c.430_431delinsAT |
p.P144I |
Missense |
4/16 |
- |
1 |
12-112891096-CC-GA |
c.430_431delinsGA |
p.P144D |
Missense |
4/16 |
- |
1 |
12-112891096-CC-GG |
c.430_431inv |
p.P144G |
Missense |
4/16 |
- |
1 |
12-112891096-CC-GT |
c.430_431delinsGT |
p.P144V |
Missense |
4/16 |
- |
1 |
12-112891096-CC-TA |
c.430_431delinsTA |
p.P144Y |
Missense |
4/16 |
- |
1 |
12-112891096-CCT-AAG |
c.430_432delinsAAG |
p.P144K |
Missense |
4/16 |
- |
1 |
12-112891096-CCT-ATG |
c.430_432delinsATG |
p.P144M |
Missense |
4/16 |
- |
1 |
12-112891096-CC-TG |
c.430_431delinsTG |
p.P144C |
Missense |
4/16 |
- |
1 |
12-112891096-CCT-GAG |
c.430_432delinsGAG |
p.P144E |
Missense |
4/16 |
- |
1 |
12-112891096-CC-TT |
c.430_431delinsTT |
p.P144F |
Missense |
4/16 |
- |
1 |
12-112891096-CCT-TGG |
c.430_432delinsTGG |
p.P144W |
Missense |
4/16 |
- |
1 |
12-112891096-C-G |
c.430C>G |
p.P144A |
Missense |
4/16 |
- |
1 |
12-112891096-C-T |
c.430C>T |
p.P144S |
Missense |
4/16 |
- |
2 |
12-112891097-C-A |
c.431C>A |
p.P144H |
Missense |
4/16 |
- |
1 |
12-112891097-C-G |
c.431C>G |
p.P144R |
Missense |
4/16 |
- |
6 |
12-112891097-C-T |
c.431C>T |
p.P144L |
Missense |
4/16 |
- |
3 |
12-112891097-CT-AA |
c.431_432delinsAA |
p.P144Q |
Missense |
4/16 |
- |
1 |
12-112891099-G-A |
c.433G>A |
p.G145R |
Missense |
4/16 |
- |
1 |
12-112891099-G-C |
c.433G>C |
p.G145R |
Missense |
4/16 |
- |
1 |
12-112891099-GG-AA |
c.433_434delinsAA |
p.G145K |
Missense |
4/16 |
- |
1 |
12-112891099-GGA-AAC |
c.433_435delinsAAC |
p.G145N |
Missense |
4/16 |
- |
1 |
12-112891099-GGA-AGC |
c.433_435delinsAGC |
p.G145S |
Missense |
4/16 |
- |
1 |
12-112891099-GGA-ATG |
c.433_435delinsATG |
p.G145M |
Missense |
4/16 |
- |
1 |
12-112891099-GG-AC |
c.433_434delinsAC |
p.G145T |
Missense |
4/16 |
- |
1 |
12-112891099-GGA-CAT |
c.433_435delinsCAT |
p.G145H |
Missense |
4/16 |
- |
1 |
12-112891099-GG-AT |
c.433_434delinsAT |
p.G145I |
Missense |
4/16 |
- |
1 |
12-112891099-GGA-TAT |
c.433_435delinsTAT |
p.G145Y |
Missense |
4/16 |
- |
1 |
12-112891099-GGA-TGG |
c.433_435delinsTGG |
p.G145W |
Missense |
4/16 |
- |
1 |
12-112891099-GGA-TGT |
c.433_435delinsTGT |
p.G145C |
Missense |
4/16 |
- |
1 |
12-112891099-GGA-TTT |
c.433_435delinsTTT |
p.G145F |
Missense |
4/16 |
- |
1 |
12-112891099-GG-CA |
c.433_434delinsCA |
p.G145Q |
Missense |
4/16 |
- |
1 |
12-112891099-GG-CC |
c.433_434inv |
p.G145P |
Missense |
4/16 |
- |
1 |
12-112891099-GG-CT |
c.433_434delinsCT |
p.G145L |
Missense |
4/16 |
- |
1 |
12-112891100-G-A |
c.434G>A |
p.G145E |
Missense |
4/16 |
- |
2 |
12-112891100-GA-AC |
c.434_435delinsAC |
p.G145D |
Missense |
4/16 |
- |
1 |
12-112891100-G-C |
c.434G>C |
p.G145A |
Missense |
4/16 |
- |
1 |
12-112891100-G-T |
c.434G>T |
p.G145V |
Missense |
4/16 |
- |
2 |
12-112891102-G-A |
c.436G>A |
p.D146N |
Missense |
4/16 |
- |
1 |
12-112891102-GA-AC |
c.436_437delinsAC |
p.D146T |
Missense |
4/16 |
- |
1 |
12-112891102-GA-AG |
c.436_437delinsAG |
p.D146S |
Missense |
4/16 |
- |
4 |
12-112891102-GA-AT |
c.436_437delinsAT |
p.D146I |
Missense |
4/16 |
- |
1 |
12-112891102-GA-CC |
c.436_437delinsCC |
p.D146P |
Missense |
4/16 |
- |
2 |
12-112891102-GA-CG |
c.436_437delinsCG |
p.D146R |
Missense |
4/16 |
- |
2 |
12-112891102-GA-CT |
c.436_437delinsCT |
p.D146L |
Missense |
4/16 |
- |
2 |
12-112891102-GAT-AAG |
c.436_438delinsAAG |
p.D146K |
Missense |
4/16 |
- |
1 |
12-112891102-GAT-ATG |
c.436_438delinsATG |
p.D146M |
Missense |
4/16 |
- |
1 |
12-112891102-GAT-CAA |
c.436_438delinsCAA |
p.D146Q |
Missense |
4/16 |
- |
1 |
12-112891102-GA-TG |
c.436_437delinsTG |
p.D146C |
Missense |
4/16 |
- |
1 |
12-112891102-GA-TT |
c.436_437delinsTT |
p.D146F |
Missense |
4/16 |
- |
1 |
12-112891102-GAT-TGG |
c.436_438delinsTGG |
p.D146W |
Missense |
4/16 |
- |
1 |
12-112891102-G-C |
c.436G>C |
p.D146H |
Missense |
4/16 |
- |
2 |
12-112891102-G-T |
c.436G>T |
p.D146Y |
Missense |
4/16 |
- |
12 |
12-112891103-A-C |
c.437A>C |
p.D146A |
Missense |
4/16 |
- |
6 |
12-112891103-A-G |
c.437A>G |
p.D146G |
Missense |
4/16 |
- |
2 |
12-112891103-A-T |
c.437A>T |
p.D146V |
Missense |
4/16 |
- |
1 |
12-112891104-T-A |
c.438T>A |
p.D146E |
Missense |
4/16 |
- |
1 |
12-112891104-T-G |
c.438T>G |
p.D146E |
Missense |
4/16 |
- |
1 |
12-112891105-T-A |
c.439T>A |
p.F147I |
Missense |
4/16 |
- |
1 |
12-112891105-T-C |
c.439T>C |
p.F147L |
Missense |
4/16 |
- |
1 |
12-112891105-T-G |
c.439T>G |
p.F147V |
Missense |
4/16 |
- |
1 |
12-112891105-TT-AA |
c.439_440inv |
p.F147N |
Missense |
4/16 |
- |
1 |
12-112891105-TT-AC |
c.439_440delinsAC |
p.F147T |
Missense |
4/16 |
- |
1 |
12-112891105-TT-CA |
c.439_440delinsCA |
p.F147H |
Missense |
4/16 |
- |
1 |
12-112891105-TT-CC |
c.439_440delinsCC |
p.F147P |
Missense |
4/16 |
- |
1 |
12-112891105-TT-CG |
c.439_440delinsCG |
p.F147R |
Missense |
4/16 |
- |
1 |
12-112891105-TT-GA |
c.439_440delinsGA |
p.F147D |
Missense |
4/16 |
- |
1 |
12-112891105-TT-GC |
c.439_440delinsGC |
p.F147A |
Missense |
4/16 |
- |
1 |
12-112891105-TT-GG |
c.439_440delinsGG |
p.F147G |
Missense |
4/16 |
- |
1 |
12-112891105-TTT-AAG |
c.439_441delinsAAG |
p.F147K |
Missense |
4/16 |
- |
1 |
12-112891105-TTT-ATG |
c.439_441delinsATG |
p.F147M |
Missense |
4/16 |
- |
1 |
12-112891105-TTT-CAA |
c.439_441delinsCAA |
p.F147Q |
Missense |
4/16 |
- |
1 |
12-112891105-TTT-GAG |
c.439_441delinsGAG |
p.F147E |
Missense |
4/16 |
- |
1 |
12-112891107-T-A |
c.441T>A |
p.F147L |
Missense |
4/16 |
- |
1 |
12-112891107-T-G |
c.441T>G |
p.F147L |
Missense |
4/16 |
- |
1 |
12-112891106-T-A |
c.440T>A |
p.F147Y |
Missense |
4/16 |
- |
1 |
12-112891106-T-C |
c.440T>C |
p.F147S |
Missense |
4/16 |
- |
1 |
12-112891106-T-G |
c.440T>G |
p.F147C |
Missense |
4/16 |
- |
1 |
12-112891106-TT-GG |
c.440_441delinsGG |
p.F147W |
Missense |
4/16 |
- |
1 |
12-112891108-G-A |
c.442G>A |
p.V148I |
Missense |
4/16 |
- |
1 |
12-112891108-G-C |
c.442G>C |
p.V148L |
Missense |
4/16 |
- |
1 |
12-112891108-G-T |
c.442G>T |
p.V148F |
Missense |
4/16 |
- |
1 |
12-112891108-GT-AA |
c.442_443delinsAA |
p.V148N |
Missense |
4/16 |
- |
1 |
12-112891108-GT-AC |
c.442_443inv |
p.V148T |
Missense |
4/16 |
- |
1 |
12-112891108-GT-AG |
c.442_443delinsAG |
p.V148S |
Missense |
4/16 |
- |
1 |
12-112891108-GT-CA |
c.442_443delinsCA |
p.V148H |
Missense |
4/16 |
- |
1 |
12-112891108-GT-CC |
c.442_443delinsCC |
p.V148P |
Missense |
4/16 |
- |
1 |
12-112891108-GT-CG |
c.442_443delinsCG |
p.V148R |
Missense |
4/16 |
- |
1 |
12-112891108-GT-TA |
c.442_443delinsTA |
p.V148Y |
Missense |
4/16 |
- |
1 |
12-112891108-GTT-AAG |
c.442_444delinsAAG |
p.V148K |
Missense |
4/16 |
- |
1 |
12-112891108-GTT-ATG |
c.442_444delinsATG |
p.V148M |
Missense |
4/16 |
- |
1 |
12-112891108-GTT-CAA |
c.442_444delinsCAA |
p.V148Q |
Missense |
4/16 |
- |
1 |
12-112891108-GT-TG |
c.442_443delinsTG |
p.V148C |
Missense |
4/16 |
- |
1 |
12-112891108-GTT-TGG |
c.442_444delinsTGG |
p.V148W |
Missense |
4/16 |
- |
1 |
12-112891109-T-A |
c.443T>A |
p.V148D |
Missense |
4/16 |
- |
1 |
12-112891109-T-C |
c.443T>C |
p.V148A |
Missense |
4/16 |
- |
2 |
12-112891109-T-G |
c.443T>G |
p.V148G |
Missense |
4/16 |
- |
2 |
12-112891109-TT-AG |
c.443_444delinsAG |
p.V148E |
Missense |
4/16 |
- |
1 |
12-112891111-C-A |
c.445C>A |
p.L149I |
Missense |
4/16 |
- |
1 |
12-112891111-C-G |
c.445C>G |
p.L149V |
Missense |
4/16 |
- |
1 |
12-112891111-C-T |
c.445C>T |
p.L149F |
Missense |
4/16 |
- |
1 |
12-112891111-CT-AA |
c.445_446delinsAA |
p.L149N |
Missense |
4/16 |
- |
1 |
12-112891111-CT-AC |
c.445_446delinsAC |
p.L149T |
Missense |
4/16 |
- |
1 |
12-112891111-CT-AG |
c.445_446inv |
p.L149S |
Missense |
4/16 |
- |
1 |
12-112891111-CT-GA |
c.445_446delinsGA |
p.L149D |
Missense |
4/16 |
- |
1 |
12-112891111-CT-GC |
c.445_446delinsGC |
p.L149A |
Missense |
4/16 |
- |
3 |
12-112891111-CT-GG |
c.445_446delinsGG |
p.L149G |
Missense |
4/16 |
- |
1 |
12-112891111-CT-TA |
c.445_446delinsTA |
p.L149Y |
Missense |
4/16 |
- |
1 |
12-112891111-CTT-AAG |
c.445_447inv |
p.L149K |
Missense |
4/16 |
- |
1 |
12-112891111-CTT-ATG |
c.445_447delinsATG |
p.L149M |
Missense |
4/16 |
- |
1 |
12-112891111-CT-TG |
c.445_446delinsTG |
p.L149C |
Missense |
4/16 |
- |
1 |
12-112891111-CTT-GAG |
c.445_447delinsGAG |
p.L149E |
Missense |
4/16 |
- |
1 |
12-112891111-CTT-TGG |
c.445_447delinsTGG |
p.L149W |
Missense |
4/16 |
- |
1 |
12-112891112-T-A |
c.446T>A |
p.L149H |
Missense |
4/16 |
- |
2 |
12-112891112-T-C |
c.446T>C |
p.L149P |
Missense |
4/16 |
- |
1 |
12-112891112-T-G |
c.446T>G |
p.L149R |
Missense |
4/16 |
- |
1 |
12-112891112-TT-AA |
c.446_447inv |
p.L149Q |
Missense |
4/16 |
- |
1 |
12-112891113-T-A |
c.447T>A |
p.L149= |
Synonymous |
4/16 |
- |
1 |
12-112891113-T-C |
c.447T>C |
p.L149= |
Synonymous |
4/16 |
- |
1 |
12-112891113-T-G |
c.447T>G |
p.L149= |
Synonymous |
4/16 |
- |
1 |
12-112891114-T-A |
c.448T>A |
p.S150T |
Missense |
4/16 |
- |
1 |
12-112891114-T-C |
c.448T>C |
p.S150P |
Missense |
4/16 |
- |
1 |
12-112891114-TC-AA |
c.448_449delinsAA |
p.S150N |
Missense |
4/16 |
- |
2 |
12-112891114-TC-AT |
c.448_449delinsAT |
p.S150I |
Missense |
4/16 |
- |
4 |
12-112891114-TC-CA |
c.448_449delinsCA |
p.S150H |
Missense |
4/16 |
- |
1 |
12-112891114-TC-CG |
c.448_449delinsCG |
p.S150R |
Missense |
4/16 |
- |
1 |
12-112891114-TC-CT |
c.448_449delinsCT |
p.S150L |
Missense |
4/16 |
- |
1 |
12-112891114-TC-GA |
c.448_449inv |
p.S150D |
Missense |
4/16 |
- |
1 |
12-112891114-TC-GG |
c.448_449delinsGG |
p.S150G |
Missense |
4/16 |
- |
1 |
12-112891114-TC-GT |
c.448_449delinsGT |
p.S150V |
Missense |
4/16 |
- |
1 |
12-112891114-TCT-AAG |
c.448_450delinsAAG |
p.S150K |
Missense |
4/16 |
- |
1 |
12-112891114-TCT-ATG |
c.448_450delinsATG |
p.S150M |
Missense |
4/16 |
- |
1 |
12-112891114-TCT-CAA |
c.448_450delinsCAA |
p.S150Q |
Missense |
4/16 |
- |
1 |
12-112891114-TCT-GAG |
c.448_450delinsGAG |
p.S150E |
Missense |
4/16 |
- |
1 |
12-112891114-T-G |
c.448T>G |
p.S150A |
Missense |
4/16 |
- |
2 |
12-112891115-C-A |
c.449C>A |
p.S150Y |
Missense |
4/16 |
- |
1 |
12-112891115-C-G |
c.449C>G |
p.S150C |
Missense |
4/16 |
- |
1 |
12-112891115-C-T |
c.449C>T |
p.S150F |
Missense |
4/16 |
- |
2 |
12-112891115-CT-GG |
c.449_450delinsGG |
p.S150W |
Missense |
4/16 |
- |
1 |
12-112891115-TC-T |
c.449del |
p.S150Lfs*18 |
Frameshift |
4/16 |
- |
1 |
12-112891116-T-C |
c.450T>C |
p.S150= |
Synonymous |
4/16 |
- |
2 |
12-112891117-G-A |
c.451G>A |
p.V151M |
Missense |
4/16 |
- |
3 |
12-112891117-G-C |
c.451G>C |
p.V151L |
Missense |
4/16 |
- |
2 |
12-112891117-G-T |
c.451G>T |
p.V151L |
Missense |
4/16 |
- |
2 |
12-112891117-GT-AA |
c.451_452delinsAA |
p.V151K |
Missense |
4/16 |
- |
1 |
12-112891117-GT-AC |
c.451_452inv |
p.V151T |
Missense |
4/16 |
- |
1 |
12-112891117-GT-AG |
c.451_452delinsAG |
p.V151R |
Missense |
4/16 |
- |
1 |
12-112891117-GT-CA |
c.451_452delinsCA |
p.V151Q |
Missense |
4/16 |
- |
1 |
12-112891117-GT-CC |
c.451_452delinsCC |
p.V151P |
Missense |
4/16 |
- |
1 |
12-112891117-GTG-AAC |
c.451_453delinsAAC |
p.V151N |
Missense |
4/16 |
- |
1 |
12-112891117-GTG-ATC |
c.451_453delinsATC |
p.V151I |
Missense |
4/16 |
- |
1 |
12-112891117-GTG-CAT |
c.451_453delinsCAT |
p.V151H |
Missense |
4/16 |
- |
1 |
12-112891117-GTG-TAT |
c.451_453delinsTAT |
p.V151Y |
Missense |
4/16 |
- |
1 |
12-112891117-GTG-TGT |
c.451_453delinsTGT |
p.V151C |
Missense |
4/16 |
- |
1 |
12-112891117-GTG-TTT |
c.451_453delinsTTT |
p.V151F |
Missense |
4/16 |
- |
1 |
12-112891117-GT-TC |
c.451_452delinsTC |
p.V151S |
Missense |
4/16 |
- |
1 |
12-112891117-GT-TG |
c.451_452delinsTG |
p.V151W |
Missense |
4/16 |
- |
1 |
12-112891118-T-A |
c.452T>A |
p.V151E |
Missense |
4/16 |
- |
1 |
12-112891118-T-C |
c.452T>C |
p.V151A |
Missense |
4/16 |
- |
1 |
12-112891118-T-G |
c.452T>G |
p.V151G |
Missense |
4/16 |
- |
1 |
12-112891118-TG-AC |
c.452_453delinsAC |
p.V151D |
Missense |
4/16 |
- |
1 |
12-112891120-C-A |
c.454C>A |
p.R152S |
Missense |
4/16 |
- |
1 |
12-112891120-C-G |
c.454C>G |
p.R152G |
Missense |
4/16 |
- |
1 |
12-112891120-CG-AA |
c.454_455delinsAA |
p.R152N |
Missense |
4/16 |
- |
1 |
12-112891120-CG-AC |
c.454_455delinsAC |
p.R152T |
Missense |
4/16 |
- |
1 |
12-112891120-CG-AT |
c.454_455delinsAT |
p.R152I |
Missense |
4/16 |
- |
1 |
12-112891120-CGC-AAG |
c.454_456delinsAAG |
p.R152K |
Missense |
4/16 |
- |
10 |
12-112891120-CGC-ATG |
c.454_456delinsATG |
p.R152M |
Missense |
4/16 |
- |
1 |
12-112891120-CGC-GAG |
c.454_456delinsGAG |
p.R152E |
Missense |
4/16 |
- |
2 |
12-112891120-CGC-TGG |
c.454_456delinsTGG |
p.R152W |
Missense |
4/16 |
- |
1 |
12-112891120-CG-GA |
c.454_455delinsGA |
p.R152D |
Missense |
4/16 |
- |
1 |
12-112891120-CG-GC |
c.454_455delinsGC |
p.R152A |
Missense |
4/16 |
- |
3 |
12-112891120-CG-GT |
c.454_455delinsGT |
p.R152V |
Missense |
4/16 |
- |
1 |
12-112891120-CG-TA |
c.454_455delinsTA |
p.R152Y |
Missense |
4/16 |
- |
1 |
12-112891120-CG-TT |
c.454_455delinsTT |
p.R152F |
Missense |
4/16 |
- |
1 |
12-112891120-C-T |
c.454C>T |
p.R152C |
Missense |
4/16 |
- |
1 |
12-112891121-G-A |
c.455G>A |
p.R152H |
Missense |
4/16 |
- |
14 |
12-112891121-G-C |
c.455G>C |
p.R152P |
Missense |
4/16 |
- |
2 |
12-112891121-GC-AA |
c.455_456delinsAA |
p.R152Q |
Missense |
4/16 |
- |
1 |
12-112891121-G-T |
c.455G>T |
p.R152L |
Missense |
4/16 |
- |
3 |
12-112891123-A-C |
c.457A>C |
p.T153P |
Missense |
4/16 |
- |
1 |
12-112891123-AC-CA |
c.457_458delinsCA |
p.T153H |
Missense |
4/16 |
- |
1 |
12-112891123-AC-CT |
c.457_458delinsCT |
p.T153L |
Missense |
4/16 |
- |
1 |
12-112891123-AC-GA |
c.457_458delinsGA |
p.T153D |
Missense |
4/16 |
- |
1 |
12-112891123-AC-GG |
c.457_458delinsGG |
p.T153G |
Missense |
4/16 |
- |
1 |
12-112891123-AC-GT |
c.457_458inv |
p.T153V |
Missense |
4/16 |
- |
1 |
12-112891123-AC-TA |
c.457_458delinsTA |
p.T153Y |
Missense |
4/16 |
- |
1 |
12-112891123-ACT-CAA |
c.457_459delinsCAA |
p.T153Q |
Missense |
4/16 |
- |
1 |
12-112891123-AC-TG |
c.457_458delinsTG |
p.T153C |
Missense |
4/16 |
- |
1 |
12-112891123-ACT-GAG |
c.457_459delinsGAG |
p.T153E |
Missense |
4/16 |
- |
1 |
12-112891123-AC-TT |
c.457_458delinsTT |
p.T153F |
Missense |
4/16 |
- |
1 |
12-112891123-ACT-TGG |
c.457_459delinsTGG |
p.T153W |
Missense |
4/16 |
- |
1 |
12-112891123-A-G |
c.457A>G |
p.T153A |
Missense |
4/16 |
- |
2 |
12-112891123-A-T |
c.457A>T |
p.T153S |
Missense |
4/16 |
- |
2 |
12-112891124-C-A |
c.458C>A |
p.T153N |
Missense |
4/16 |
- |
2 |
12-112891124-C-G |
c.458C>G |
p.T153S |
Missense |
4/16 |
- |
2 |
12-112891124-C-T |
c.458C>T |
p.T153I |
Missense |
4/16 |
- |
4 |
12-112891124-CT-AG |
c.458_459inv |
p.T153K |
Missense |
4/16 |
- |
1 |
12-112891124-CT-GG |
c.458_459delinsGG |
p.T153R |
Missense |
4/16 |
- |
1 |
12-112891124-CTGGTG-AAGAACACAGGGGAGAGCA |
c.458_463delinsAAGAACACAGGGGAGAGCA |
p.T153Kfs*8 |
Frameshift |
4/16 |
- |
2 |
12-112891124-CT-TG |
c.458_459delinsTG |
p.T153M |
Missense |
4/16 |
- |
1 |
12-112891125-T-A |
c.459T>A |
p.T153= |
Synonymous |
4/16 |
- |
1 |
12-112891125-T-C |
c.459T>C |
p.T153= |
Synonymous |
4/16 |
- |
1 |
12-112891125-T-G |
c.459T>G |
p.T153= |
Synonymous |
4/16 |
- |
1 |
12-112891126-G-A |
c.460G>A |
p.G154S |
Missense |
4/16 |
- |
3 |
12-112891126-G-C |
c.460G>C |
p.G154R |
Missense |
4/16 |
- |
1 |
12-112891126-GG-AA |
c.460_461delinsAA |
p.G154N |
Missense |
4/16 |
- |
1 |
12-112891126-GG-AC |
c.460_461delinsAC |
p.G154T |
Missense |
4/16 |
- |
1 |
12-112891126-GG-AT |
c.460_461delinsAT |
p.G154I |
Missense |
4/16 |
- |
1 |
12-112891126-GG-CA |
c.460_461delinsCA |
p.G154H |
Missense |
4/16 |
- |
1 |
12-112891126-GG-CC |
c.460_461inv |
p.G154P |
Missense |
4/16 |
- |
1 |
12-112891126-GG-CT |
c.460_461delinsCT |
p.G154L |
Missense |
4/16 |
- |
1 |
12-112891126-GG-TA |
c.460_461delinsTA |
p.G154Y |
Missense |
4/16 |
- |
1 |
12-112891126-GGT-AAG |
c.460_462delinsAAG |
p.G154K |
Missense |
4/16 |
- |
1 |
12-112891126-GGT-ATG |
c.460_462delinsATG |
p.G154M |
Missense |
4/16 |
- |
1 |
12-112891126-GGT-CAA |
c.460_462delinsCAA |
p.G154Q |
Missense |
4/16 |
- |
1 |
12-112891126-GG-TT |
c.460_461delinsTT |
p.G154F |
Missense |
4/16 |
- |
1 |
12-112891126-GGT-TGG |
c.460_462delinsTGG |
p.G154W |
Missense |
4/16 |
- |
1 |
12-112891126-G-T |
c.460G>T |
p.G154C |
Missense |
4/16 |
- |
1 |
12-112891127-G-A |
c.461G>A |
p.G154D |
Missense |
4/16 |
- |
5 |
12-112891127-G-C |
c.461G>C |
p.G154A |
Missense |
4/16 |
- |
3 |
12-112891127-G-T |
c.461G>T |
p.G154V |
Missense |
4/16 |
- |
1 |
12-112891127-GT-AG |
c.461_462delinsAG |
p.G154E |
Missense |
4/16 |
- |
1 |
12-112891129-G-A |
c.463G>A |
p.D155N |
Missense |
4/16 |
- |
8 |
12-112891129-GA-AC |
c.463_464delinsAC |
p.D155T |
Missense |
4/16 |
- |
1 |
12-112891129-GA-AG |
c.463_464delinsAG |
p.D155S |
Missense |
4/16 |
- |
2 |
12-112891129-GA-AT |
c.463_464delinsAT |
p.D155I |
Missense |
4/16 |
- |
1 |
12-112891129-GA-CC |
c.463_464delinsCC |
p.D155P |
Missense |
4/16 |
- |
1 |
12-112891129-GA-CG |
c.463_464delinsCG |
p.D155R |
Missense |
4/16 |
- |
2 |
12-112891129-GA-CT |
c.463_464delinsCT |
p.D155L |
Missense |
4/16 |
- |
1 |
12-112891129-GAT-AAG |
c.463_465delinsAAG |
p.D155K |
Missense |
4/16 |
- |
1 |
12-112891129-GAT-ATG |
c.463_465delinsATG |
p.D155M |
Missense |
4/16 |
- |
1 |
12-112891129-GAT-CAA |
c.463_465delinsCAA |
p.D155Q |
Missense |
4/16 |
- |
1 |
12-112891129-GA-TG |
c.463_464delinsTG |
p.D155C |
Missense |
4/16 |
- |
1 |
12-112891129-GA-TT |
c.463_464delinsTT |
p.D155F |
Missense |
4/16 |
- |
1 |
12-112891129-GAT-TGG |
c.463_465delinsTGG |
p.D155W |
Missense |
4/16 |
- |
1 |
12-112891129-G-C |
c.463G>C |
p.D155H |
Missense |
4/16 |
- |
1 |
12-112891129-G-T |
c.463G>T |
p.D155Y |
Missense |
4/16 |
- |
7 |
12-112891130-A-C |
c.464A>C |
p.D155A |
Missense |
4/16 |
- |
3 |
12-112891130-A-G |
c.464A>G |
p.D155G |
Missense |
4/16 |
- |
3 |
12-112891130-A-T |
c.464A>T |
p.D155V |
Missense |
4/16 |
- |
1 |
12-112891131-T-A |
c.465T>A |
p.D155E |
Missense |
4/16 |
- |
1 |
12-112891131-T-G |
c.465T>G |
p.D155E |
Missense |
4/16 |
- |
1 |
12-112891132-G-A |
c.466G>A |
p.D156N |
Missense |
4/16 |
- |
6 |
12-112891133-A-G |
c.467A>G |
p.D156G |
Missense |
4/16 |
- |
1 |
12-112891133-A-T |
c.467A>T |
p.D156V |
Missense |
4/16 |
- |
3 |
12-112891134-C-A |
c.468C>A |
p.D156E |
Missense |
4/16 |
- |
2 |
12-112891134-C-G |
c.468C>G |
p.D156E |
Missense |
4/16 |
- |
2 |
12-112891135-A-C |
c.469A>C |
p.K157Q |
Missense |
4/16 |
- |
1 |
12-112891136-A-G |
c.470A>G |
p.K157R |
Missense |
4/16 |
- |
1 |
12-112891138-G-A |
c.472G>A |
p.G158R |
Missense |
4/16 |
- |
1 |
12-112891138-GGG-AGC |
c.472_474delinsAGC |
p.G158S |
Missense |
4/16 |
- |
1 |
12-112891139-G-A |
c.473G>A |
p.G158E |
Missense |
4/16 |
- |
1 |
12-112891139-G-C |
c.473G>C |
p.G158A |
Missense |
4/16 |
- |
1 |
12-112891141-G-T |
c.475G>T |
p.E159* |
Nonsense |
4/16 |
- |
1 |
12-112891142-A-G |
c.476A>G |
p.E159G |
Missense |
4/16 |
- |
1 |
12-112891142-A-T |
c.476A>T |
p.E159V |
Missense |
4/16 |
- |
1 |
12-112891143-G-A |
c.477G>A |
p.E159= |
Synonymous |
4/16 |
- |
1 |
12-112891144-A-G |
c.478A>G |
p.S160G |
Missense |
4/16 |
- |
1 |
12-112891144-AG-CA |
c.478_479delinsCA |
p.S160H |
Missense |
4/16 |
- |
1 |
12-112891144-AG-GC |
c.478_479delinsGC |
p.S160A |
Missense |
4/16 |
- |
2 |
12-112891145-G-A |
c.479G>A |
p.S160N |
Missense |
4/16 |
- |
1 |
12-112891145-G-C |
c.479G>C |
p.S160T |
Missense |
4/16 |
- |
1 |
12-112891147-A-G |
c.481A>G |
p.N161D |
Missense |
4/16 |
- |
2 |
12-112891146-C-CA |
c.482dup |
p.N161Kfs*2 |
Frameshift |
4/16 |
- |
1 |
12-112891148-A-C |
c.482A>C |
p.N161T |
Missense |
4/16 |
- |
1 |
12-112891148-A-AT |
c.483dup |
p.D162* |
Nonsense |
4/16 |
- |
1 |
12-112891150-G-A |
c.484G>A |
p.D162N |
Missense |
4/16 |
- |
1 |
12-112891150-G-T |
c.484G>T |
p.D162Y |
Missense |
4/16 |
- |
1 |
12-112891152-C-T |
c.486C>T |
p.D162= |
Synonymous |
4/16 |
- |
2 |
12-112891153-G-A |
c.487G>A |
p.G163S |
Missense |
4/16 |
- |
2 |
12-112891153-G-C |
c.487G>C |
p.G163R |
Missense |
4/16 |
- |
1 |
12-112891153-G-T |
c.487G>T |
p.G163C |
Missense |
4/16 |
- |
1 |
12-112891154-G-A |
c.488G>A |
p.G163D |
Missense |
4/16 |
- |
2 |
12-112891154-G-C |
c.488G>C |
p.G163A |
Missense |
4/16 |
- |
1 |
12-112891155-C-A |
c.489C>A |
p.G163= |
Synonymous |
4/16 |
- |
1 |
12-112891155-C-G |
c.489C>G |
p.G163= |
Synonymous |
4/16 |
- |
1 |
12-112891155-C-T |
c.489C>T |
p.G163= |
Synonymous |
4/16 |
- |
1 |
12-112891156-AA-GC |
c.490_491delinsGC |
p.K164A |
Missense |
4/16 |
- |
3 |
12-112891156-A-G |
c.490A>G |
p.K164E |
Missense |
4/16 |
- |
1 |
12-112891157-A-G |
c.491A>G |
p.K164R |
Missense |
4/16 |
- |
1 |
12-112891159-T-C |
c.493T>C |
p.S165P |
Missense |
4/16 |
- |
1 |
12-112891159-TC-AA |
c.493_494delinsAA |
p.S165N |
Missense |
4/16 |
- |
1 |
12-112891159-TC-GA |
c.493_494inv |
p.S165D |
Missense |
4/16 |
- |
1 |
12-112891159-TC-GG |
c.493_494delinsGG |
p.S165G |
Missense |
4/16 |
- |
1 |
12-112891159-T-G |
c.493T>G |
p.S165A |
Missense |
4/16 |
- |
1 |
12-112891161-T-A |
c.495T>A |
p.S165= |
Synonymous |
4/16 |
- |
1 |
12-112891161-T-C |
c.495T>C |
p.S165= |
Synonymous |
4/16 |
- |
2 |
12-112891161-T-G |
c.495T>G |
p.S165= |
Synonymous |
4/16 |
- |
1 |
12-112891162-AAA-CAT |
c.496_498delinsCAT |
p.K166H |
Missense |
4/16 |
- |
1 |
12-112891162-AAA-GAC |
c.496_498delinsGAC |
p.K166D |
Missense |
4/16 |
- |
1 |
12-112891162-AAA-TAT |
c.496_498delinsTAT |
p.K166Y |
Missense |
4/16 |
- |
1 |
12-112891162-AAA-TGG |
c.496_498delinsTGG |
p.K166W |
Missense |
4/16 |
- |
1 |
12-112891162-AAA-TGT |
c.496_498delinsTGT |
p.K166C |
Missense |
4/16 |
- |
1 |
12-112891162-AAA-TTT |
c.496_498inv |
p.K166F |
Missense |
4/16 |
- |
1 |
12-112891162-AA-CC |
c.496_497delinsCC |
p.K166P |
Missense |
4/16 |
- |
1 |
12-112891162-AA-CT |
c.496_497delinsCT |
p.K166L |
Missense |
4/16 |
- |
1 |
12-112891162-AA-GC |
c.496_497delinsGC |
p.K166A |
Missense |
4/16 |
- |
1 |
12-112891162-AA-GG |
c.496_497delinsGG |
p.K166G |
Missense |
4/16 |
- |
1 |
12-112891162-AA-GT |
c.496_497delinsGT |
p.K166V |
Missense |
4/16 |
- |
1 |
12-112891162-A-C |
c.496A>C |
p.K166Q |
Missense |
4/16 |
- |
1 |
12-112891162-A-G |
c.496A>G |
p.K166E |
Missense |
4/16 |
- |
2 |
12-112891163-AA-GC |
c.497_498delinsGC |
p.K166S |
Missense |
4/16 |
- |
1 |
12-112891163-AA-TG |
c.497_498delinsTG |
p.K166M |
Missense |
4/16 |
- |
3 |
12-112891163-A-C |
c.497A>C |
p.K166T |
Missense |
4/16 |
- |
1 |
12-112891163-A-G |
c.497A>G |
p.K166R |
Missense |
4/16 |
- |
2 |
12-112891163-A-T |
c.497A>T |
p.K166I |
Missense |
4/16 |
- |
1 |
12-112891161-TA-T |
c.498del |
p.V167* |
Frameshift |
4/16 |
- |
1 |
12-112891164-A-ACC |
c.498_499insCC |
p.V167Pfs*2 |
Frameshift |
4/16 |
- |
1 |
12-112891164-A-C |
c.498A>C |
p.K166N |
Missense |
4/16 |
- |
1 |
12-112891164-A-T |
c.498A>T |
p.K166N |
Missense |
4/16 |
- |
1 |
12-112891165-G-A |
c.499G>A |
p.V167M |
Missense |
4/16 |
- |
1 |
12-112891165-G-C |
c.499G>C |
p.V167L |
Missense |
4/16 |
- |
1 |
12-112891165-G-T |
c.499G>T |
p.V167L |
Missense |
4/16 |
- |
1 |
12-112891165-GT-AA |
c.499_500delinsAA |
p.V167K |
Missense |
4/16 |
- |
1 |
12-112891165-GT-AC |
c.499_500inv |
p.V167T |
Missense |
4/16 |
- |
1 |
12-112891165-GT-AG |
c.499_500delinsAG |
p.V167R |
Missense |
4/16 |
- |
1 |
12-112891165-GT-CA |
c.499_500delinsCA |
p.V167Q |
Missense |
4/16 |
- |
1 |
12-112891165-GT-CC |
c.499_500delinsCC |
p.V167P |
Missense |
4/16 |
- |
1 |
12-112891165-GTG-AAC |
c.499_501delinsAAC |
p.V167N |
Missense |
4/16 |
- |
1 |
12-112891165-GTG-ATC |
c.499_501delinsATC |
p.V167I |
Missense |
4/16 |
- |
3 |
12-112891165-GTG-CAT |
c.499_501delinsCAT |
p.V167H |
Missense |
4/16 |
- |
1 |
12-112891165-GTG-TAT |
c.499_501delinsTAT |
p.V167Y |
Missense |
4/16 |
- |
1 |
12-112891165-GTG-TGT |
c.499_501delinsTGT |
p.V167C |
Missense |
4/16 |
- |
1 |
12-112891165-GTG-TTT |
c.499_501delinsTTT |
p.V167F |
Missense |
4/16 |
- |
1 |
12-112891165-GT-TC |
c.499_500delinsTC |
p.V167S |
Missense |
4/16 |
- |
1 |
12-112891165-GT-TG |
c.499_500delinsTG |
p.V167W |
Missense |
4/16 |
- |
1 |
12-112891166-T-A |
c.500T>A |
p.V167E |
Missense |
4/16 |
- |
1 |
12-112891166-T-C |
c.500T>C |
p.V167A |
Missense |
4/16 |
- |
4 |
12-112891166-T-G |
c.500T>G |
p.V167G |
Missense |
4/16 |
- |
1 |
12-112891166-TG-AC |
c.500_501delinsAC |
p.V167D |
Missense |
4/16 |
- |
1 |
12-112891168-A-C |
c.502A>C |
p.T168P |
Missense |
4/16 |
- |
1 |
12-112891168-AC-CA |
c.502_503delinsCA |
p.T168H |
Missense |
4/16 |
- |
1 |
12-112891168-ACC-CAA |
c.502_504delinsCAA |
p.T168Q |
Missense |
4/16 |
- |
1 |
12-112891168-ACC-GAG |
c.502_504delinsGAG |
p.T168E |
Missense |
4/16 |
- |
1 |
12-112891168-AC-CT |
c.502_503delinsCT |
p.T168L |
Missense |
4/16 |
- |
1 |
12-112891168-ACC-TGG |
c.502_504delinsTGG |
p.T168W |
Missense |
4/16 |
- |
1 |
12-112891168-AC-GA |
c.502_503delinsGA |
p.T168D |
Missense |
4/16 |
- |
1 |
12-112891168-AC-GG |
c.502_503delinsGG |
p.T168G |
Missense |
4/16 |
- |
1 |
12-112891168-AC-GT |
c.502_503inv |
p.T168V |
Missense |
4/16 |
- |
2 |
12-112891168-AC-TA |
c.502_503delinsTA |
p.T168Y |
Missense |
4/16 |
- |
1 |
12-112891168-AC-TG |
c.502_503delinsTG |
p.T168C |
Missense |
4/16 |
- |
1 |
12-112891168-AC-TT |
c.502_503delinsTT |
p.T168F |
Missense |
4/16 |
- |
1 |
12-112891168-A-G |
c.502A>G |
p.T168A |
Missense |
4/16 |
- |
1 |
12-112891168-A-T |
c.502A>T |
p.T168S |
Missense |
4/16 |
- |
2 |
12-112891169-C-A |
c.503C>A |
p.T168N |
Missense |
4/16 |
- |
1 |
12-112891169-CC-AG |
c.503_504delinsAG |
p.T168K |
Missense |
4/16 |
- |
1 |
12-112891169-CC-GG |
c.503_504inv |
p.T168R |
Missense |
4/16 |
- |
1 |
12-112891169-CC-TG |
c.503_504delinsTG |
p.T168M |
Missense |
4/16 |
- |
2 |
12-112891169-C-G |
c.503C>G |
p.T168S |
Missense |
4/16 |
- |
2 |
12-112891169-C-T |
c.503C>T |
p.T168I |
Missense |
4/16 |
- |
1 |
12-112891171-C-A |
c.505C>A |
p.H169N |
Missense |
4/16 |
- |
1 |
12-112891171-CA-AC |
c.505_506delinsAC |
p.H169T |
Missense |
4/16 |
- |
1 |
12-112891171-CA-AG |
c.505_506delinsAG |
p.H169S |
Missense |
4/16 |
- |
1 |
12-112891171-CA-AT |
c.505_506delinsAT |
p.H169I |
Missense |
4/16 |
- |
2 |
12-112891171-CA-GC |
c.505_506delinsGC |
p.H169A |
Missense |
4/16 |
- |
2 |
12-112891171-CA-GG |
c.505_506delinsGG |
p.H169G |
Missense |
4/16 |
- |
1 |
12-112891171-CA-GT |
c.505_506delinsGT |
p.H169V |
Missense |
4/16 |
- |
1 |
12-112891171-CAT-AAG |
c.505_507delinsAAG |
p.H169K |
Missense |
4/16 |
- |
1 |
12-112891171-CAT-ATG |
c.505_507inv |
p.H169M |
Missense |
4/16 |
- |
1 |
12-112891171-CA-TG |
c.505_506inv |
p.H169C |
Missense |
4/16 |
- |
1 |
12-112891171-CAT-GAG |
c.505_507delinsGAG |
p.H169E |
Missense |
4/16 |
- |
1 |
12-112891171-CA-TT |
c.505_506delinsTT |
p.H169F |
Missense |
4/16 |
- |
1 |
12-112891171-CAT-TGG |
c.505_507delinsTGG |
p.H169W |
Missense |
4/16 |
- |
1 |
12-112891171-C-G |
c.505C>G |
p.H169D |
Missense |
4/16 |
- |
1 |
12-112891171-C-T |
c.505C>T |
p.H169Y |
Missense |
4/16 |
- |
1 |
12-112891172-A-C |
c.506A>C |
p.H169P |
Missense |
4/16 |
- |
1 |
12-112891172-A-G |
c.506A>G |
p.H169R |
Missense |
4/16 |
- |
1 |
12-112891172-A-T |
c.506A>T |
p.H169L |
Missense |
4/16 |
- |
1 |
12-112891173-T-A |
c.507T>A |
p.H169Q |
Missense |
4/16 |
- |
1 |
12-112891173-T-G |
c.507T>G |
p.H169Q |
Missense |
4/16 |
- |
1 |
12-112891174-G-A |
c.508G>A |
p.V170I |
Missense |
4/16 |
- |
1 |
12-112891174-G-C |
c.508G>C |
p.V170L |
Missense |
4/16 |
- |
1 |
12-112891174-G-T |
c.508G>T |
p.V170F |
Missense |
4/16 |
- |
1 |
12-112891174-GT-AA |
c.508_509delinsAA |
p.V170N |
Missense |
4/16 |
- |
1 |
12-112891174-GT-AC |
c.508_509inv |
p.V170T |
Missense |
4/16 |
- |
1 |
12-112891174-GT-AG |
c.508_509delinsAG |
p.V170S |
Missense |
4/16 |
- |
1 |
12-112891174-GT-CA |
c.508_509delinsCA |
p.V170H |
Missense |
4/16 |
- |
1 |
12-112891174-GT-CC |
c.508_509delinsCC |
p.V170P |
Missense |
4/16 |
- |
1 |
12-112891174-GT-CG |
c.508_509delinsCG |
p.V170R |
Missense |
4/16 |
- |
1 |
12-112891174-GT-TA |
c.508_509delinsTA |
p.V170Y |
Missense |
4/16 |
- |
1 |
12-112891174-GTT-AAG |
c.508_510delinsAAG |
p.V170K |
Missense |
4/16 |
- |
1 |
12-112891174-GTT-ATG |
c.508_510delinsATG |
p.V170M |
Missense |
4/16 |
- |
2 |
12-112891174-GTT-CAA |
c.508_510delinsCAA |
p.V170Q |
Missense |
4/16 |
- |
1 |
12-112891174-GT-TG |
c.508_509delinsTG |
p.V170C |
Missense |
4/16 |
- |
1 |
12-112891174-GTT-TGG |
c.508_510delinsTGG |
p.V170W |
Missense |
4/16 |
- |
1 |
12-112891175-T-A |
c.509T>A |
p.V170D |
Missense |
4/16 |
- |
1 |
12-112891175-T-C |
c.509T>C |
p.V170A |
Missense |
4/16 |
- |
3 |
12-112891175-T-G |
c.509T>G |
p.V170G |
Missense |
4/16 |
- |
1 |
12-112891175-TT-AG |
c.509_510delinsAG |
p.V170E |
Missense |
4/16 |
- |
1 |
12-112891176-T-A |
c.510T>A |
p.V170= |
Synonymous |
4/16 |
- |
1 |
12-112891176-T-C |
c.510T>C |
p.V170= |
Synonymous |
4/16 |
- |
3 |
12-112891176-T-G |
c.510T>G |
p.V170= |
Synonymous |
4/16 |
- |
1 |
12-112891177-A-C |
c.511A>C |
p.M171L |
Missense |
4/16 |
- |
1 |
12-112891177-A-G |
c.511A>G |
p.M171V |
Missense |
4/16 |
- |
1 |
12-112891177-A-T |
c.511A>T |
p.M171L |
Missense |
4/16 |
- |
1 |
12-112891177-AT-CA |
c.511_512delinsCA |
p.M171Q |
Missense |
4/16 |
- |
1 |
12-112891177-AT-CC |
c.511_512delinsCC |
p.M171P |
Missense |
4/16 |
- |
1 |
12-112891177-AT-GA |
c.511_512delinsGA |
p.M171E |
Missense |
4/16 |
- |
1 |
12-112891177-AT-GC |
c.511_512delinsGC |
p.M171A |
Missense |
4/16 |
- |
1 |
12-112891177-ATG-CAT |
c.511_513inv |
p.M171H |
Missense |
4/16 |
- |
1 |
12-112891177-AT-GG |
c.511_512delinsGG |
p.M171G |
Missense |
4/16 |
- |
1 |
12-112891177-ATG-GAC |
c.511_513delinsGAC |
p.M171D |
Missense |
4/16 |
- |
1 |
12-112891177-ATG-TAT |
c.511_513delinsTAT |
p.M171Y |
Missense |
4/16 |
- |
1 |
12-112891177-ATG-TGT |
c.511_513delinsTGT |
p.M171C |
Missense |
4/16 |
- |
1 |
12-112891177-ATG-TTT |
c.511_513delinsTTT |
p.M171F |
Missense |
4/16 |
- |
1 |
12-112891177-AT-TG |
c.511_512delinsTG |
p.M171W |
Missense |
4/16 |
- |
1 |
12-112891178-T-A |
c.512T>A |
p.M171K |
Missense |
4/16 |
- |
1 |
12-112891178-T-C |
c.512T>C |
p.M171T |
Missense |
4/16 |
- |
1 |
12-112891178-T-G |
c.512T>G |
p.M171R |
Missense |
4/16 |
- |
1 |
12-112891178-TG-AC |
c.512_513delinsAC |
p.M171N |
Missense |
4/16 |
- |
1 |
12-112891178-TG-GC |
c.512_513delinsGC |
p.M171S |
Missense |
4/16 |
- |
1 |
12-112891179-G-A |
c.513G>A |
p.M171I |
Missense |
4/16 |
- |
1 |
12-112891179-G-C |
c.513G>C |
p.M171I |
Missense |
4/16 |
- |
1 |
12-112891179-G-T |
c.513G>T |
p.M171I |
Missense |
4/16 |
- |
1 |
12-112891180-A-C |
c.514A>C |
p.I172L |
Missense |
4/16 |
- |
1 |
12-112891180-A-G |
c.514A>G |
p.I172V |
Missense |
4/16 |
- |
2 |
12-112891180-A-T |
c.514A>T |
p.I172F |
Missense |
4/16 |
- |
1 |
12-112891180-AT-CA |
c.514_515delinsCA |
p.I172H |
Missense |
4/16 |
- |
1 |
12-112891180-AT-CC |
c.514_515delinsCC |
p.I172P |
Missense |
4/16 |
- |
1 |
12-112891180-AT-GA |
c.514_515delinsGA |
p.I172D |
Missense |
4/16 |
- |
1 |
12-112891180-AT-GC |
c.514_515delinsGC |
p.I172A |
Missense |
4/16 |
- |
1 |
12-112891180-AT-GG |
c.514_515delinsGG |
p.I172G |
Missense |
4/16 |
- |
1 |
12-112891180-AT-TA |
c.514_515delinsTA |
p.I172Y |
Missense |
4/16 |
- |
1 |
12-112891180-ATT-CAA |
c.514_516delinsCAA |
p.I172Q |
Missense |
4/16 |
- |
1 |
12-112891180-AT-TG |
c.514_515delinsTG |
p.I172C |
Missense |
4/16 |
- |
1 |
12-112891180-ATT-GAG |
c.514_516delinsGAG |
p.I172E |
Missense |
4/16 |
- |
1 |
12-112891180-ATT-TGG |
c.514_516delinsTGG |
p.I172W |
Missense |
4/16 |
- |
1 |
12-112891180-GATTCGCTGTCA-G |
c.514_524del |
p.I172Gfs*13 |
SpliceDonorDeletion |
4/16 |
- |
1 |
12-112891181-T-A |
c.515T>A |
p.I172N |
Missense |
4/16 |
- |
1 |
12-112891181-T-C |
c.515T>C |
p.I172T |
Missense |
4/16 |
- |
3 |
12-112891181-T-G |
c.515T>G |
p.I172S |
Missense |
4/16 |
- |
1 |
12-112891181-TT-AG |
c.515_516delinsAG |
p.I172K |
Missense |
4/16 |
- |
1 |
12-112891181-TT-GG |
c.515_516delinsGG |
p.I172R |
Missense |
4/16 |
- |
1 |
12-112891182-T-G |
c.516T>G |
p.I172M |
Missense |
4/16 |
- |
1 |
12-112891183-C-A |
c.517C>A |
p.R173S |
Missense |
4/16 |
- |
1 |
12-112891183-C-G |
c.517C>G |
p.R173G |
Missense |
4/16 |
- |
2 |
12-112891183-CG-AA |
c.517_518delinsAA |
p.R173N |
Missense |
4/16 |
- |
1 |
12-112891183-CG-AC |
c.517_518delinsAC |
p.R173T |
Missense |
4/16 |
- |
1 |
12-112891183-CG-AT |
c.517_518delinsAT |
p.R173I |
Missense |
4/16 |
- |
1 |
12-112891183-CGC-AAG |
c.517_519delinsAAG |
p.R173K |
Missense |
4/16 |
- |
1 |
12-112891183-CGC-ATG |
c.517_519delinsATG |
p.R173M |
Missense |
4/16 |
- |
1 |
12-112891183-CGC-GAG |
c.517_519delinsGAG |
p.R173E |
Missense |
4/16 |
- |
1 |
12-112891183-CGC-TGA |
c.517_519delinsTGA |
p.R173* |
Nonsense |
4/16 |
- |
1 |
12-112891183-CGC-TGG |
c.517_519delinsTGG |
p.R173W |
Missense |
4/16 |
- |
12 |
12-112891183-CG-GA |
c.517_518delinsGA |
p.R173D |
Missense |
4/16 |
- |
1 |
12-112891183-CG-GC |
c.517_518delinsGC |
p.R173A |
Missense |
4/16 |
- |
2 |
12-112891183-CG-GT |
c.517_518delinsGT |
p.R173V |
Missense |
4/16 |
- |
1 |
12-112891183-CG-TA |
c.517_518delinsTA |
p.R173Y |
Missense |
4/16 |
- |
1 |
12-112891183-CG-TT |
c.517_518delinsTT |
p.R173F |
Missense |
4/16 |
- |
1 |
12-112891183-C-T |
c.517C>T |
p.R173C |
Missense |
4/16 |
- |
4 |
12-112891184-G-A |
c.518G>A |
p.R173H |
Missense |
4/16 |
- |
8 |
12-112891184-G-C |
c.518G>C |
p.R173P |
Missense |
4/16 |
- |
6 |
12-112891184-GC-AA |
c.518_519delinsAA |
p.R173Q |
Missense |
4/16 |
- |
2 |
12-112891184-G-T |
c.518G>T |
p.R173L |
Missense |
4/16 |
- |
2 |
12-112891186-T-A |
c.520T>A |
p.C174S |
Missense |
4/16 |
- |
2 |
12-112891186-T-C |
c.520T>C |
p.C174R |
Missense |
4/16 |
- |
1 |
12-112891186-T-G |
c.520T>G |
p.C174G |
Missense |
4/16 |
- |
2 |
12-112891186-TG-AA |
c.520_521delinsAA |
p.C174N |
Missense |
4/16 |
- |
1 |
12-112891186-TG-AC |
c.520_521delinsAC |
p.C174T |
Missense |
4/16 |
- |
1 |
12-112891186-TG-AT |
c.520_521delinsAT |
p.C174I |
Missense |
4/16 |
- |
1 |
12-112891186-TG-CA |
c.520_521inv |
p.C174H |
Missense |
4/16 |
- |
1 |
12-112891186-TG-CC |
c.520_521delinsCC |
p.C174P |
Missense |
4/16 |
- |
1 |
12-112891186-TG-CT |
c.520_521delinsCT |
p.C174L |
Missense |
4/16 |
- |
1 |
12-112891186-TG-GA |
c.520_521delinsGA |
p.C174D |
Missense |
4/16 |
- |
1 |
12-112891186-TG-GC |
c.520_521delinsGC |
p.C174A |
Missense |
4/16 |
- |
1 |
12-112891186-TG-GT |
c.520_521delinsGT |
p.C174V |
Missense |
4/16 |
- |
1 |
12-112891186-TGT-AAG |
c.520_522delinsAAG |
p.C174K |
Missense |
4/16 |
- |
1 |
12-112891186-TGT-ATG |
c.520_522delinsATG |
p.C174M |
Missense |
4/16 |
- |
1 |
12-112891186-TGT-CAA |
c.520_522delinsCAA |
p.C174Q |
Missense |
4/16 |
- |
1 |
12-112891186-TGT-GAG |
c.520_522delinsGAG |
p.C174E |
Missense |
4/16 |
- |
1 |
12-112891187-G-C |
c.521G>C |
p.C174S |
Missense |
4/16 |
- |
2 |
12-112891187-G-A |
c.521G>A |
p.C174Y |
Missense |
4/16 |
- |
2 |
12-112891187-G-T |
c.521G>T |
p.C174F |
Missense |
|