16-68771248-C-G |
c.-71C>G |
- |
5-UTRSNV |
1/16 |
- |
2 |
16-68771265-G-C |
c.-54G>C |
- |
5-UTRSNV |
1/16 |
- |
1 |
16-68771270-G-T |
c.-49G>T |
- |
5-UTRSNV |
1/16 |
- |
1 |
16-68771319-A-G |
c.1A>G |
p.Met1? |
Missense |
1/16 |
- |
1 |
16-68771321-G-A |
c.3G>A |
p.Met1? |
Missense |
1/16 |
- |
3 |
16-68771321-G-C |
c.3G>C |
p.Met1? |
Missense |
1/16 |
- |
2 |
16-68771324-C-A |
c.6C>A |
p.Gly2Gly |
Synonymous |
1/16 |
- |
1 |
16-68771324-C-G |
c.6C>G |
p.Gly2Gly |
Synonymous |
1/16 |
- |
1 |
16-68771324-C-T |
c.6C>T |
p.Gly2Gly |
Synonymous |
1/16 |
- |
1 |
16-68771326-C-G |
c.8C>G |
p.Pro3Arg |
Missense |
1/16 |
- |
2 |
16-68771344-C-A |
c.26C>A |
p.Ser9* |
Nonsense |
1/16 |
- |
2 |
16-68771349-CTG-TGT |
c.31_33delinsTGT |
p.Leu11Cys |
Missense |
1/16 |
- |
1 |
16-68771349-GC-G |
c.31del |
p.Leu11Cysfs*45 |
Frameshift |
1/16 |
- |
1 |
16-68771353-T-C |
c.35T>C |
p.Leu12Pro |
Missense |
1/16 |
- |
1 |
16-68771355-CT-GC |
c.37_38delinsGC |
p.Leu13Ala |
Missense |
1/16 |
- |
2 |
16-68771356-CTGCTGCTGC-C |
c.38_46del |
p.Leu13_Leu15del |
InFrameDeletion |
1/16 |
- |
1 |
16-68771359-CTGCTGC-C |
c.41_46del |
p.Leu14_Leu15del |
InFrameDeletion |
1/16 |
- |
1 |
16-68771362-CTGC-C |
c.44_46del |
p.Leu15del |
InFrameDeletion |
1/16 |
- |
2 |
16-68771363-G-GT |
c.45_46insT |
p.Gln16Serfs*18 |
Frameshift |
1/16 |
- |
2 |
16-68771366-G-C |
c.48G>C |
p.Gln16His |
Missense |
1/16 |
- |
1 |
16-68771367-G-A |
c.48+1G>A |
- |
IntronicSNV |
- |
1/15 |
3 |
16-68771368-T-C |
c.48+2T>C |
- |
IntronicSNV |
- |
1/15 |
1 |
16-68771372-CC-TT |
c.48+6_48+7delinsTT |
- |
IntronicBlockSubstitution |
- |
1/15 |
1 |
16-68771372-C-T |
c.48+6C>T |
- |
IntronicSNV |
- |
1/15 |
22 |
16-68771373-C-T |
c.48+7C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
16-68771428-C-CCG |
c.48+62_48+63insCG |
- |
IntronicInsertion |
- |
1/15 |
1 |
16-68771428-C-CCGTGCCCCAGCCC |
c.48+62_48+63insCGTGCCCCAGCCC |
- |
IntronicInsertion |
- |
1/15 |
1 |
16-68771428-CCT-C |
c.48+62_48+63del |
- |
IntronicDeletion |
- |
1/15 |
1 |
16-68771429-T-C |
c.48+63T>C |
- |
IntronicSNV |
- |
1/15 |
1 |
16-68771431-C-T |
c.48+65C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
16-68771905-A-C |
c.49-295A>C |
- |
IntronicSNV |
- |
1/15 |
1 |
16-68772139-T-G |
c.49-61T>G |
- |
IntronicSNV |
- |
1/15 |
1 |
16-68772141-G-T |
c.49-59G>T |
- |
IntronicSNV |
- |
1/15 |
1 |
16-68772198-A-C |
c.49-2A>C |
- |
IntronicSNV |
- |
1/15 |
1 |
16-68772198-A-G |
c.49-2A>G |
- |
IntronicSNV |
- |
1/15 |
3 |
16-68772198-A-T |
c.49-2A>T |
- |
IntronicSNV |
- |
1/15 |
1 |
16-68772199-G-C |
c.49-1G>C |
- |
IntronicSNV |
- |
1/15 |
1 |
16-68772202-TCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCT-T |
c.51_109del |
p.Ser18Hisfs*21 |
Unclassified |
2/16 |
- |
1 |
16-68772203-T-G |
c.52T>G |
p.Ser18Ala |
Missense |
2/16 |
- |
1 |
16-68772205-C-A |
c.54C>A |
p.Ser18Ser |
Synonymous |
2/16 |
- |
1 |
16-68772206-TC-GA |
c.55_56inv |
p.Ser19Asp |
Missense |
2/16 |
- |
1 |
16-68772206-T-G |
c.55T>G |
p.Ser19Ala |
Missense |
2/16 |
- |
5 |
16-68772207-C-G |
c.56C>G |
p.Ser19Cys |
Missense |
2/16 |
- |
1 |
16-68772210-G-A |
c.59G>A |
p.Trp20* |
Nonsense |
2/16 |
- |
6 |
16-68772211-G-A |
c.60G>A |
p.Trp20* |
Nonsense |
2/16 |
- |
2 |
16-68772218-C-A |
c.67C>A |
p.Gln23Lys |
Missense |
2/16 |
- |
1 |
16-68772218-C-T |
c.67C>T |
p.Gln23* |
Nonsense |
2/16 |
- |
10 |
16-68772221-G-T |
c.70G>T |
p.Glu24* |
Nonsense |
2/16 |
- |
4 |
16-68772230-C-T |
c.79C>T |
p.Pro27Ser |
Missense |
2/16 |
- |
2 |
16-68772230-GCCCTGCC-G |
c.79_85del |
p.Pro27Thrfs*27 |
Frameshift |
2/16 |
- |
2 |
16-68772233-T-A |
c.82T>A |
p.Cys28Ser |
Missense |
2/16 |
- |
1 |
16-68772233-TG-GC |
c.82_83delinsGC |
p.Cys28Ala |
Missense |
2/16 |
- |
1 |
16-68772233-T-TA |
c.82_83insA |
p.Cys28* |
Nonsense |
2/16 |
- |
1 |
16-68772234-G-C |
c.83G>C |
p.Cys28Ser |
Missense |
2/16 |
- |
1 |
16-68772235-GCC-G |
c.84_85del |
p.Cys28* |
Frameshift |
2/16 |
- |
1 |
16-68772237-CA-C |
c.86del |
p.His29Profs*27 |
Frameshift |
2/16 |
- |
1 |
16-68772239-C-A |
c.88C>A |
p.Pro30Thr |
Missense |
2/16 |
- |
17 |
16-68772248-GAC-AAG |
c.97_99delinsAAG |
p.Asp33Lys |
Missense |
2/16 |
- |
1 |
16-68772251-G-T |
c.100G>T |
p.Ala34Ser |
Missense |
2/16 |
- |
1 |
16-68772252-C-G |
c.101C>G |
p.Ala34Gly |
Missense |
2/16 |
- |
1 |
16-68772254-G-T |
c.103G>T |
p.Glu35* |
Nonsense |
2/16 |
- |
1 |
16-68772256-G-A |
c.105G>A |
p.Glu35Glu |
Synonymous |
2/16 |
- |
1 |
16-68772261-A-AA |
c.110dup |
p.Tyr37* |
Nonsense |
2/16 |
- |
1 |
16-68772262-ACAC-A |
c.111_113del |
p.Tyr37_Thr38delins* |
MultiAAMissense |
2/16 |
- |
1 |
16-68772266-TT-GA |
c.115_116delinsGA |
p.Phe39Asp |
Missense |
2/16 |
- |
1 |
16-68772276-C-T |
c.125C>T |
p.Pro42Leu |
Missense |
2/16 |
- |
1 |
16-68772281-C-A |
c.130C>A |
p.Arg44Ser |
Missense |
2/16 |
- |
1 |
16-68772283-C-T |
c.132C>T |
p.Arg44Arg |
Synonymous |
2/16 |
- |
1 |
16-68772285-CACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGC-C |
c.134_163+29del |
- |
SpliceDonorDeletion |
2/16 |
2/15 |
1 |
16-68772287-C-A |
c.136C>A |
p.Leu46Met |
Missense |
2/16 |
- |
1 |
16-68772287-C-G |
c.136C>G |
p.Leu46Val |
Missense |
2/16 |
- |
1 |
16-68772293-AGA-CAT |
c.142_144delinsCAT |
p.Arg48His |
Missense |
2/16 |
- |
1 |
16-68772297-G-C |
c.146G>C |
p.Gly49Ala |
Missense |
2/16 |
- |
2 |
16-68772300-G-A |
c.149G>A |
p.Arg50His |
UnclassifiedSNV |
2/16 |
- |
1 |
16-68772305-C-G |
c.154C>G |
p.Leu52Val |
Missense |
2/16 |
- |
1 |
16-68772305-C-T |
c.154C>T |
p.Leu52Leu |
Synonymous |
2/16 |
- |
1 |
16-68772311-A-G |
c.160A>G |
p.Arg54Gly |
Missense |
2/16 |
- |
2 |
16-68772311-AGA-TGT |
c.160_162delinsTGT |
p.Arg54Cys |
Missense |
2/16 |
- |
1 |
16-68772316-T-G |
c.163+2T>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68772371-G-A |
c.163+57G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68772373-G-C |
c.163+59G>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68772681-G-C |
c.163+367G>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68772681-G-T |
c.163+367G>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68773860-C-G |
c.163+1546C>G |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68773860-C-T |
c.163+1546C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68773912-C-T |
c.163+1598C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68774168-C-G |
c.163+1854C>G |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68774168-C-T |
c.163+1854C>T |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68774283-T-C |
c.163+1969T>C |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68774800-G-C |
c.163+2486G>C |
- |
IntronicSNV |
- |
2/15 |
5 |
16-68774800-G-T |
c.163+2486G>T |
- |
IntronicSNV |
- |
2/15 |
5 |
16-68776246-G-A |
c.163+3932G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68776416-G-A |
c.163+4102G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68776416-G-C |
c.163+4102G>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68778457-C-T |
c.163+6143C>T |
- |
IntronicSNV |
- |
2/15 |
5 |
16-68778858-A-C |
c.163+6544A>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68778996-G-A |
c.163+6682G>A |
- |
IntronicSNV |
- |
2/15 |
6 |
16-68779452-A-T |
c.163+7138A>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68779514-A-G |
c.163+7200A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68780069-G-A |
c.163+7755G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68783671-C-T |
c.163+11357C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68784587-G-A |
c.163+12273G>A |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68784587-G-C |
c.163+12273G>C |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68784587-G-T |
c.163+12273G>T |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68784603-T-C |
c.163+12289T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68786748-C-G |
c.163+14434C>G |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68786748-C-T |
c.163+14434C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68786857-C-T |
c.163+14543C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68787529-C-T |
c.163+15215C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68787875-G-A |
c.163+15561G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68788909-G-T |
c.163+16595G>T |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68789445-G-A |
c.163+17131G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68789445-G-T |
c.163+17131G>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68790394-G-A |
c.163+18080G>A |
- |
IntronicSNV |
- |
2/15 |
9 |
16-68790502-C-T |
c.163+18188C>T |
- |
IntronicSNV |
- |
2/15 |
6 |
16-68791183-G-A |
c.163+18869G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68791183-G-C |
c.163+18869G>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68791231-A-G |
c.163+18917A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68791306-C-A |
c.163+18992C>A |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68791306-C-G |
c.163+18992C>G |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68791644-C-G |
c.163+19330C>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68792093-T-C |
c.163+19779T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68792093-T-G |
c.163+19779T>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68793683-C-T |
c.163+21369C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68795374-C-T |
c.163+23060C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68796746-A-G |
c.163+24432A>G |
- |
IntronicSNV |
- |
2/15 |
5 |
16-68797893-C-A |
c.163+25579C>A |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68797893-C-T |
c.163+25579C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68798682-A-G |
c.163+26368A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68798682-A-T |
c.163+26368A>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68799611-A-G |
c.163+27297A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68799611-A-T |
c.163+27297A>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68799944-T-C |
c.163+27630T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68800035-G-A |
c.163+27721G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68800035-G-C |
c.163+27721G>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68800452-T-C |
c.163+28138T>C |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68800643-TTTTTTTT-TTTTTTTTTTTTTTTT |
c.163+28329_163+28336dup |
- |
IntronicInsertion |
- |
2/15 |
1 |
16-68800649-TT-TTTT |
c.163+28335_163+28336dup |
- |
IntronicInsertion |
- |
2/15 |
1 |
16-68800650-T-TT |
c.163+28336dup |
- |
IntronicInsertion |
- |
2/15 |
1 |
16-68800650-T-TTTTTTTTTTTTTTT |
c.163+28336_163+28337insTTTTTTTTTTTTTT |
- |
IntronicInsertion |
- |
2/15 |
1 |
16-68800756-G-A |
c.163+28442G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68800756-G-C |
c.163+28442G>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68800838-T-C |
c.163+28524T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68800849-C-T |
c.163+28535C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68801077-A-C |
c.163+28763A>C |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68801077-A-T |
c.163+28763A>T |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68802282-G-A |
c.163+29968G>A |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68802423-A-G |
c.163+30109A>G |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68802787-A-G |
c.163+30473A>G |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68802936-C-T |
c.163+30622C>T |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68803222-T-A |
c.163+30908T>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68803222-T-G |
c.163+30908T>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68803614-G-A |
c.163+31300G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68803726-T-G |
c.163+31412T>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68803844-A-C |
c.163+31530A>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68803844-A-G |
c.163+31530A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68804068-G-A |
c.164-31505G>A |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68804342-T-C |
c.164-31231T>C |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68805610-G-A |
c.164-29963G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68805610-G-C |
c.164-29963G>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68805805-C-T |
c.164-29768C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68806508-C-A |
c.164-29065C>A |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68806539-G-T |
c.164-29034G>T |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68806586-C-T |
c.164-28987C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68806778-C-T |
c.164-28795C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68809207-C-T |
c.164-26366C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68809273-T-C |
c.164-26300T>C |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68809599-G-A |
c.164-25974G>A |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68809640-T-A |
c.164-25933T>A |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68810923-T-C |
c.164-24650T>C |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68811307-T-C |
c.164-24266T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68814502-A-G |
c.164-21071A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68814502-A-T |
c.164-21071A>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68814590-T-C |
c.164-20983T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68814826-G-A |
c.164-20747G>A |
- |
IntronicSNV |
- |
2/15 |
7 |
16-68814948-T-A |
c.164-20625T>A |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68815000-C-G |
c.164-20573C>G |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68815000-C-T |
c.164-20573C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68815549-T-A |
c.164-20024T>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68815566-A-G |
c.164-20007A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68815566-A-T |
c.164-20007A>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68815838-T-A |
c.164-19735T>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68816260-G-A |
c.164-19313G>A |
- |
IntronicSNV |
- |
2/15 |
5 |
16-68816260-G-C |
c.164-19313G>C |
- |
IntronicSNV |
- |
2/15 |
5 |
16-68817439-C-G |
c.164-18134C>G |
- |
IntronicSNV |
- |
2/15 |
8 |
16-68817439-C-T |
c.164-18134C>T |
- |
IntronicSNV |
- |
2/15 |
8 |
16-68818245-T-G |
c.164-17328T>G |
- |
IntronicSNV |
- |
2/15 |
6 |
16-68818390-C-T |
c.164-17183C>T |
- |
IntronicSNV |
- |
2/15 |
5 |
16-68818903-T-A |
c.164-16670T>A |
- |
IntronicSNV |
- |
2/15 |
5 |
16-68818903-T-C |
c.164-16670T>C |
- |
IntronicSNV |
- |
2/15 |
5 |
16-68819007-C-T |
c.164-16566C>T |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68819207-C-G |
c.164-16366C>G |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68819207-C-T |
c.164-16366C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68819444-G-A |
c.164-16129G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68819614-C-T |
c.164-15959C>T |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68820946-G-A |
c.164-14627G>A |
- |
IntronicSNV |
- |
2/15 |
152 |
16-68821126-C-T |
c.164-14447C>T |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68821271-G-C |
c.164-14302G>C |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68821890-C-A |
c.164-13683C>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68821890-C-G |
c.164-13683C>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68821890-C-T |
c.164-13683C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68822019-C-T |
c.164-13554C>T |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68822341-C-G |
c.164-13232C>G |
- |
IntronicSNV |
- |
2/15 |
6 |
16-68822479-G-A |
c.164-13094G>A |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68822599-G-A |
c.164-12974G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68822971-A-G |
c.164-12602A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68824008-A-G |
c.164-11565A>G |
- |
IntronicSNV |
- |
2/15 |
2 |
16-68824220-A-C |
c.164-11353A>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68824965-T-C |
c.164-10608T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68829021-C-T |
c.164-6552C>T |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68830473-A-G |
c.164-5100A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68830511-A-G |
c.164-5062A>G |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68830511-A-T |
c.164-5062A>T |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68830807-G-T |
c.164-4766G>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68832414-T-C |
c.164-3159T>C |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68832750-A-G |
c.164-2823A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68832943-C-T |
c.164-2630C>T |
- |
IntronicSNV |
- |
2/15 |
15 |
16-68833157-T-C |
c.164-2416T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68833550-A-G |
c.164-2023A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68833682-G-A |
c.164-1891G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68833682-G-C |
c.164-1891G>C |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68833888-C-A |
c.164-1685C>A |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68833888-C-G |
c.164-1685C>G |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68833888-C-T |
c.164-1685C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
16-68834107-C-A |
c.164-1466C>A |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68834107-C-G |
c.164-1466C>G |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68834107-C-T |
c.164-1466C>T |
- |
IntronicSNV |
- |
2/15 |
3 |
16-68834156-C-G |
c.164-1417C>G |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68834156-C-T |
c.164-1417C>T |
- |
IntronicSNV |
- |
2/15 |
4 |
16-68835573-T-G |
c.164T>G |
p.Val55Gly |
Missense |
3/16 |
- |
5 |
16-68835581-G-T |
c.172G>T |
p.Glu58* |
Nonsense |
3/16 |
- |
3 |
16-68835591-C-T |
c.182C>T |
p.Thr61Ile |
Missense |
3/16 |
- |
1 |
16-68835593-G-A |
c.184G>A |
p.Gly62Ser |
Missense |
3/16 |
- |
4 |
16-68835594-G-A |
c.185G>A |
p.Gly62Asp |
Missense |
3/16 |
- |
2 |
16-68835594-G-T |
c.185G>T |
p.Gly62Val |
Missense |
3/16 |
- |
6 |
16-68835596-C-G |
c.187C>G |
p.Arg63Gly |
Missense |
3/16 |
- |
1 |
16-68835596-C-T |
c.187C>T |
p.Arg63* |
Nonsense |
3/16 |
- |
9 |
16-68835597-G-A |
c.188G>A |
p.Arg63Gln |
Missense |
3/16 |
- |
1 |
16-68835599-C-T |
c.190C>T |
p.Gln64* |
Nonsense |
3/16 |
- |
3 |
16-68835603-G-T |
c.194G>T |
p.Arg65Met |
Missense |
3/16 |
- |
1 |
16-68835608-G-A |
c.199G>A |
p.Ala67Thr |
Missense |
3/16 |
- |
1 |
16-68835608-G-T |
c.199G>T |
p.Ala67Ser |
Missense |
3/16 |
- |
2 |
16-68835617-TCCC-CCTT |
c.208_211delinsCCTT |
p.Ser70_Leu71delinsProPhe |
MultiAAMissense |
3/16 |
- |
1 |
16-68835617-TTCCCTC-T |
c.208_213del |
p.Ser70_Leu71del |
InFrameDeletion |
3/16 |
- |
1 |
16-68835617-TT-T |
c.208del |
p.Ser70Profs*13 |
Frameshift |
3/16 |
- |
2 |
16-68835618-C-T |
c.209C>T |
p.Ser70Phe |
Missense |
3/16 |
- |
1 |
16-68835620-C-T |
c.211C>T |
p.Leu71Phe |
Missense |
3/16 |
- |
1 |
16-68835622-C-A |
c.213C>A |
p.Leu71Leu |
Synonymous |
3/16 |
- |
1 |
16-68835622-C-G |
c.213C>G |
p.Leu71Leu |
Synonymous |
3/16 |
- |
1 |
16-68835622-C-T |
c.213C>T |
p.Leu71Leu |
Synonymous |
3/16 |
- |
1 |
16-68835623-G-A |
c.214G>A |
p.Asp72Asn |
Missense |
3/16 |
- |
4 |
16-68835623-G-C |
c.214G>C |
p.Asp72His |
Missense |
3/16 |
- |
3 |
16-68835629-C-T |
c.220C>T |
p.Arg74* |
Nonsense |
3/16 |
- |
3 |
16-68835630-G-A |
c.221G>A |
p.Arg74Gln |
Missense |
3/16 |
- |
1 |
16-68835634-C-G |
c.225C>G |
p.Phe75Leu |
Missense |
3/16 |
- |
1 |
16-68835641-G-A |
c.232G>A |
p.Gly78Ser |
Missense |
3/16 |
- |
1 |
16-68835642-G-A |
c.233G>A |
p.Gly78Asp |
Missense |
3/16 |
- |
1 |
16-68835644-A-G |
c.235A>G |
p.Thr79Ala |
Missense |
3/16 |
- |
1 |
16-68835646-A-G |
c.237A>G |
p.Thr79Thr |
Synonymous |
3/16 |
- |
1 |
16-68835647-G-A |
c.238G>A |
p.Asp80Asn |
Missense |
3/16 |
- |
1 |
16-68835650-TGGTGTGATTACAGTCAAAAGGCCTCTACGGTTT-T |
c.241_273del |
p.Gly81_Phe91del |
InFrameDeletion |
3/16 |
- |
1 |
16-68835654-T-C |
c.245T>C |
p.Val82Ala |
Missense |
3/16 |
- |
1 |
16-68835663-T-C |
c.254T>C |
p.Val85Ala |
Missense |
3/16 |
- |
2 |
16-68835667-A-C |
c.258A>C |
p.Lys86Asn |
Missense |
3/16 |
- |
1 |
16-68835668-A-G |
c.259A>G |
p.Arg87Gly |
Missense |
3/16 |
- |
1 |
16-68835670-G-C |
c.261G>C |
p.Arg87Ser |
Missense |
3/16 |
- |
1 |
16-68835672-C-A |
c.263C>A |
p.Pro88His |
Missense |
3/16 |
- |
1 |
16-68835672-C-G |
c.263C>G |
p.Pro88Arg |
Missense |
3/16 |
- |
1 |
16-68835678-G-A |
c.269G>A |
p.Arg90Gln |
Missense |
3/16 |
- |
2 |
16-68835682-TT-T |
c.273del |
p.His92Ilefs*25 |
Frameshift |
3/16 |
- |
1 |
16-68835683-C-T |
c.274C>T |
p.His92Tyr |
Missense |
3/16 |
- |
1 |
16-68835689-C-A |
c.280C>A |
p.Pro94Thr |
Missense |
3/16 |
- |
2 |
16-68835690-C-CC |
c.281dup |
p.Gln95Thrfs*73 |
Frameshift |
3/16 |
- |
1 |
16-68835692-C-T |
c.283C>T |
p.Gln95* |
Nonsense |
3/16 |
- |
5 |
16-68835695-A-G |
c.286A>G |
p.Ile96Val |
Missense |
3/16 |
- |
2 |
16-68835696-T-C |
c.287T>C |
p.Ile96Thr |
Missense |
3/16 |
- |
1 |
16-68835706-G-C |
c.297G>C |
p.Leu99Phe |
Missense |
3/16 |
- |
1 |
16-68835711-A-G |
c.302A>G |
p.Tyr101Cys |
Missense |
3/16 |
- |
2 |
16-68835713-G-A |
c.304G>A |
p.Ala102Thr |
Missense |
3/16 |
- |
3 |
16-68835713-G-T |
c.304G>T |
p.Ala102Ser |
Missense |
3/16 |
- |
1 |
16-68835714-CC-AG |
c.305_306delinsAG |
p.Ala102Glu |
Missense |
3/16 |
- |
1 |
16-68835717-G-A |
c.308G>A |
p.Trp103* |
Nonsense |
3/16 |
- |
1 |
16-68835722-T-A |
c.313T>A |
p.Ser105Thr |
Missense |
3/16 |
- |
1 |
16-68835728-TAC-GAG |
c.319_321delinsGAG |
p.Tyr107Glu |
Missense |
3/16 |
- |
1 |
16-68835729-A-T |
c.320A>T |
p.Tyr107Phe |
Missense |
3/16 |
- |
1 |
16-68835731-AG-CA |
c.322_323delinsCA |
p.Arg108Gln |
Missense |
3/16 |
- |
1 |
16-68835731-CA-C |
c.322del |
p.Arg108Glufs*9 |
Frameshift |
3/16 |
- |
1 |
16-68835733-A-G |
c.324A>G |
p.Arg108Arg |
Synonymous |
3/16 |
- |
3 |
16-68835745-CC-C |
c.336del |
p.Val114Serfs*3 |
Frameshift |
3/16 |
- |
1 |
16-68835746-A-G |
c.337A>G |
p.Lys113Glu |
Missense |
3/16 |
- |
1 |
16-68835752-A-AA |
c.343dup |
p.Thr115Asnfs*53 |
Frameshift |
3/16 |
- |
1 |
16-68835753-C-T |
c.344C>T |
p.Thr115Met |
Missense |
3/16 |
- |
2 |
16-68835754-G-A |
c.345G>A |
p.Thr115Thr |
Synonymous |
3/16 |
- |
7 |
16-68835757-G-A |
c.348G>A |
p.Leu116Leu |
Synonymous |
3/16 |
- |
1 |
16-68835758-A-G |
c.349A>G |
p.Asn117Asp |
Missense |
3/16 |
- |
1 |
16-68835762-C-G |
c.353C>G |
p.Thr118Arg |
Missense |
3/16 |
- |
4 |
16-68835769-G-GG |
c.360dup |
p.His121Alafs*47 |
Frameshift |
3/16 |
- |
2 |
16-68835769-GG-G |
c.360del |
p.His121Thrfs*94 |
Frameshift |
3/16 |
- |
4 |
16-68835770-CA-AC |
c.361_362delinsAC |
p.His121Thr |
Missense |
3/16 |
- |
2 |
16-68835771-A-G |
c.362A>G |
p.His121Arg |
Missense |
3/16 |
- |
1 |
16-68835776-C-G |
c.367C>G |
p.His123Asp |
Missense |
3/16 |
- |
1 |
16-68835776-C-T |
c.367C>T |
p.His123Tyr |
Missense |
3/16 |
- |
1 |
16-68835778-C-A |
c.369C>A |
p.His123Gln |
Missense |
3/16 |
- |
1 |
16-68835778-C-G |
c.369C>G |
p.His123Gln |
Missense |
3/16 |
- |
1 |
16-68835779-C-T |
c.370C>T |
p.Arg124Cys |
Missense |
3/16 |
- |
2 |
16-68835783-C-T |
c.374C>T |
p.Pro125Leu |
Missense |
3/16 |
- |
1 |
16-68835786-C-A |
c.377C>A |
p.Pro126Gln |
Missense |
3/16 |
- |
1 |
16-68835786-C-CC |
c.377dup |
p.Pro127Alafs*41 |
Frameshift |
3/16 |
- |
1 |
16-68835786-CC-C |
c.377del |
p.Pro126Argfs*89 |
Frameshift |
3/16 |
- |
2 |
16-68835786-C-G |
c.377C>G |
p.Pro126Arg |
Missense |
3/16 |
- |
2 |
16-68835786-C-T |
c.377C>T |
p.Pro126Leu |
Missense |
3/16 |
- |
3 |
16-68835787-G-A |
c.378G>A |
p.Pro126Pro |
Synonymous |
3/16 |
- |
1 |
16-68835787-G-T |
c.378G>T |
p.Pro126Pro |
Synonymous |
3/16 |
- |
1 |
16-68835788-C-T |
c.379C>T |
p.Pro127Ser |
Missense |
3/16 |
- |
1 |
16-68835791-CA-AT |
c.382_383delinsAT |
p.His128Ile |
Missense |
3/16 |
- |
1 |
16-68835791-CC-C |
c.382del |
p.His128Ilefs*87 |
Frameshift |
3/16 |
- |
2 |
16-68835794-C-T |
c.385C>T |
p.Gln129* |
Nonsense |
3/16 |
- |
3 |
16-68835796-G-T |
c.387G>T |
p.Gln129His |
Missense |
3/16 |
- |
2 |
16-68835797-G-A |
c.387+1G>A |
- |
IntronicSNV |
- |
3/15 |
2 |
16-68835801-G-A |
c.387+5G>A |
- |
IntronicSNV |
- |
3/15 |
2 |
16-68835823-C-A |
c.387+27C>A |
- |
IntronicSNV |
- |
3/15 |
1 |
16-68835823-C-T |
c.387+27C>T |
- |
IntronicSNV |
- |
3/15 |
2 |
16-68836665-C-T |
c.387+869C>T |
- |
IntronicSNV |
- |
3/15 |
2 |
16-68837496-A-G |
c.387+1700A>G |
- |
IntronicSNV |
- |
3/15 |
4 |
16-68837876-G-A |
c.387+2080G>A |
- |
IntronicSNV |
- |
3/15 |
1 |
16-68837876-G-C |
c.387+2080G>C |
- |
IntronicSNV |
- |
3/15 |
1 |
16-68838716-G-A |
c.387+2920G>A |
- |
IntronicSNV |
- |
3/15 |
1 |
16-68839263-G-T |
c.388-3064G>T |
- |
IntronicSNV |
- |
3/15 |
7 |
16-68839293-A-G |
c.388-3034A>G |
- |
IntronicSNV |
- |
3/15 |
6 |
16-68839302-T-C |
c.388-3025T>C |
- |
IntronicSNV |
- |
3/15 |
4 |
16-68840588-A-G |
c.388-1739A>G |
- |
IntronicSNV |
- |
3/15 |
7 |
16-68842283-G-A |
c.388-44G>A |
- |
IntronicSNV |
- |
3/15 |
2 |
16-68842327-G-A |
c.388G>A |
p.Ala130Thr |
Missense |
4/16 |
- |
1 |
16-68842333-G-A |
c.394G>A |
p.Val132Ile |
Missense |
4/16 |
- |
1 |
16-68842336-T-G |
c.397T>G |
p.Ser133Ala |
Missense |
4/16 |
- |
1 |
16-68842351-G-T |
c.412G>T |
p.Glu138* |
Nonsense |
4/16 |
- |
1 |
16-68842357-C-T |
c.418C>T |
p.Leu140Phe |
Missense |
4/16 |
- |
1 |
16-68842361-C-G |
c.422C>G |
p.Thr141Arg |
Missense |
4/16 |
- |
1 |
16-68842376-C-G |
c.437C>G |
p.Ser146Cys |
Missense |
4/16 |
- |
1 |
16-68842378-C-G |
c.439C>G |
p.Pro147Ala |
Missense |
4/16 |
- |
1 |
16-68842384-CTC-ATG |
c.445_447delinsATG |
p.Leu149Met |
Missense |
4/16 |
- |
1 |
16-68842388-G-A |
c.449G>A |
p.Arg150Lys |
Missense |
4/16 |
- |
1 |
16-68842393-ACAGAAGA-A |
c.454_460del |
p.Gln152Glufs*61 |
Frameshift |
4/16 |
- |
1 |
16-68842394-A-G |
c.455A>G |
p.Gln152Arg |
Missense |
4/16 |
- |
1 |
16-68842395-G-C |
c.456G>C |
p.Gln152His |
Missense |
4/16 |
- |
1 |
16-68842400-G-C |
c.461G>C |
p.Arg154Thr |
Missense |
4/16 |
- |
1 |
16-68842401-A-C |
c.462A>C |
p.Arg154Ser |
Missense |
4/16 |
- |
1 |
16-68842401-A-T |
c.462A>T |
p.Arg154Ser |
Missense |
4/16 |
- |
1 |
16-68842405-T-G |
c.466T>G |
p.Trp156Gly |
Missense |
4/16 |
- |
1 |
16-68842405-TG-GC |
c.466_467delinsGC |
p.Trp156Ala |
Missense |
4/16 |
- |
1 |
16-68842407-G-T |
c.468G>T |
p.Trp156Cys |
Missense |
4/16 |
- |
1 |
16-68842408-G-C |
c.469G>C |
p.Val157Leu |
Missense |
4/16 |
- |
1 |
16-68842408-G-T |
c.469G>T |
p.Val157Phe |
Missense |
4/16 |
- |
1 |
16-68842410-TTATTCCTCCCATCAGCTGCCCAGAAAATGAAAAAGGCCCATTTCCTAAAAACCTGGTTC-T |
c.471_529del |
p.Ile158Aspfs*21 |
InFrameDeletion |
4/16 |
- |
1 |
16-68842414-C-CATA |
c.475_476insATA |
p.Pro159delinsHisThr |
MultiAAMissense |
4/16 |
- |
1 |
16-68842414-C-G |
c.475C>G |
p.Pro159Ala |
Missense |
4/16 |
- |
1 |
16-68842414-C-T |
c.475C>T |
p.Pro159Ser |
Missense |
4/16 |
- |
1 |
16-68842415-C-T |
c.476C>T |
p.Pro159Leu |
Missense |
4/16 |
- |
1 |
16-68842419-C-T |
c.480C>T |
p.Pro160Pro |
Synonymous |
4/16 |
- |
1 |
16-68842426-CT-C |
c.487del |
p.Cys163Alafs*52 |
Frameshift |
4/16 |
- |
1 |
16-68842428-C-A |
c.489C>A |
p.Cys163* |
Nonsense |
4/16 |
- |
3 |
16-68842438-G-A |
c.499G>A |
p.Glu167Lys |
Missense |
4/16 |
- |
1 |
16-68842439-A-C |
c.500A>C |
p.Glu167Ala |
Missense |
4/16 |
- |
1 |
16-68842441-A-G |
c.502A>G |
p.Lys168Glu |
Missense |
4/16 |
- |
1 |
16-68842443-A-AA |
c.504dup |
p.Gly169Argfs*5 |
Frameshift |
4/16 |
- |
1 |
16-68842444-G-A |
c.505G>A |
p.Gly169Ser |
Missense |
4/16 |
- |
1 |
16-68842448-C-T |
c.509C>T |
p.Pro170Leu |
Missense |
4/16 |
- |
1 |
16-68842454-C-G |
c.515C>G |
p.Pro172Arg |
Missense |
4/16 |
- |
2 |
16-68842460-A-AA |
c.521dup |
p.Asn174Lysfs*25 |
Frameshift |
4/16 |
- |
2 |
16-68842463-T-C |
c.524T>C |
p.Leu175Pro |
Missense |
4/16 |
- |
1 |
16-68842471-G-C |
c.531+1G>C |
- |
IntronicSNV |
- |
4/15 |
1 |
16-68842472-T-A |
c.531+2T>A |
- |
IntronicSNV |
- |
4/15 |
2 |
16-68842473-A-G |
c.531+3A>G |
- |
IntronicSNV |
- |
4/15 |
1 |
16-68842480-G-C |
c.531+10G>C |
- |
IntronicSNV |
- |
4/15 |
7 |
16-68842578-C-A |
c.532-18C>A |
- |
IntronicSNV |
- |
4/15 |
1 |
16-68842578-C-T |
c.532-18C>T |
- |
IntronicSNV |
- |
4/15 |
5 |
16-68842595-G-A |
c.532-1G>A |
- |
IntronicSNV |
- |
4/15 |
1 |
16-68842599-A-G |
c.535A>G |
p.Lys179Glu |
Missense |
5/16 |
- |
2 |
16-68842603-C-T |
c.539C>T |
p.Ser180Phe |
Missense |
5/16 |
- |
1 |
16-68842610-A-C |
c.546A>C |
p.Lys182Asn |
Missense |
5/16 |
- |
4 |
16-68842610-A-G |
c.546A>G |
p.Lys182Lys |
Synonymous |
5/16 |
- |
2 |
16-68842618-A-T |
c.554A>T |
p.Glu185Val |
Missense |
5/16 |
- |
3 |
16-68842622-C-T |
c.558C>T |
p.Gly186Gly |
Synonymous |
5/16 |
- |
1 |
16-68842624-A-G |
c.560A>G |
p.Lys187Arg |
Missense |
5/16 |
- |
2 |
16-68842627-T-A |
c.563T>A |
p.Val188Asp |
Missense |
5/16 |
- |
1 |
16-68842633-A-G |
c.569A>G |
p.Tyr190Cys |
Missense |
5/16 |
- |
1 |
16-68842639-T-A |
c.575T>A |
p.Ile192Asn |
Missense |
5/16 |
- |
1 |
16-68842641-A-C |
c.577A>C |
p.Thr193Pro |
Missense |
5/16 |
- |
1 |
16-68842650-G-T |
c.586G>T |
p.Gly196* |
Nonsense |
5/16 |
- |
3 |
16-68842666-CCT-C |
c.602_603del |
p.Pro201Argfs*7 |
Frameshift |
5/16 |
- |
1 |
16-68842666-C-T |
c.602C>T |
p.Pro201Leu |
Missense |
5/16 |
- |
1 |
16-68842667-CT-C |
c.603del |
p.Val202Leufs*13 |
Frameshift |
5/16 |
- |
3 |
16-68842668-G-A |
c.604G>A |
p.Val202Ile |
Missense |
5/16 |
- |
4 |
16-68842668-G-C |
c.604G>C |
p.Val202Leu |
Missense |
5/16 |
- |
1 |
16-68842678-T-C |
c.614T>C |
p.Phe205Ser |
Missense |
5/16 |
- |
4 |
16-68842692-G-C |
c.628G>C |
p.Glu210Gln |
Missense |
5/16 |
- |
3 |
16-68842692-G-T |
c.628G>T |
p.Glu210* |
Nonsense |
5/16 |
- |
1 |
16-68842699-G-A |
c.635G>A |
p.Gly212Glu |
Missense |
5/16 |
- |
1 |
16-68842699-G-T |
c.635G>T |
p.Gly212Val |
Missense |
5/16 |
- |
2 |
16-68842700-A-G |
c.636A>G |
p.Gly212Gly |
Synonymous |
5/16 |
- |
1 |
16-68842702-G-A |
c.638G>A |
p.Trp213* |
Nonsense |
5/16 |
- |
1 |
16-68842702-G-C |
c.638G>C |
p.Trp213Ser |
Missense |
5/16 |
- |
1 |
16-68842703-G-A |
c.639G>A |
p.Trp213* |
Nonsense |
5/16 |
- |
1 |
16-68842704-CT-GC |
c.640_641delinsGC |
p.Leu214Ala |
Missense |
5/16 |
- |
1 |
16-68842705-T-A |
c.641T>A |
p.Leu214Gln |
Missense |
5/16 |
- |
1 |
16-68842705-T-C |
c.641T>C |
p.Leu214Pro |
Missense |
5/16 |
- |
6 |
16-68842705-T-G |
c.641T>G |
p.Leu214Arg |
Missense |
5/16 |
- |
1 |
16-68842716-G-GTA |
c.652_653insTA |
p.Glu218Valfs*33 |
Frameshift |
5/16 |
- |
1 |
16-68842726-A-G |
c.662A>G |
p.Asp221Gly |
Missense |
5/16 |
- |
1 |
16-68842728-A-G |
c.664A>G |
p.Arg222Gly |
Missense |
5/16 |
- |
1 |
16-68842731-G-C |
c.667G>C |
p.Glu223Gln |
Missense |
5/16 |
- |
1 |
16-68842734-C-T |
c.670C>T |
p.Arg224Cys |
Missense |
5/16 |
- |
6 |
16-68842735-G-A |
c.671G>A |
p.Arg224His |
Missense |
5/16 |
- |
6 |
16-68842738-T-C |
c.674T>C |
p.Ile225Thr |
Missense |
5/16 |
- |
1 |
16-68842747-A-AA |
c.683dup |
p.Tyr228* |
Nonsense |
5/16 |
- |
2 |
16-68842752-G-A |
c.687+1G>A |
- |
IntronicSNV |
- |
5/15 |
1 |
16-68842752-G-T |
c.687+1G>T |
- |
IntronicSNV |
- |
5/15 |
2 |
16-68842756-G-C |
c.687+5G>C |
- |
IntronicSNV |
- |
5/15 |
1 |
16-68842895-G-A |
c.687+144G>A |
- |
IntronicSNV |
- |
5/15 |
6 |
16-68842895-G-T |
c.687+144G>T |
- |
IntronicSNV |
- |
5/15 |
6 |
16-68844017-G-A |
c.688-83G>A |
- |
IntronicSNV |
- |
5/15 |
1 |
16-68844017-G-T |
c.688-83G>T |
- |
IntronicSNV |
- |
5/15 |
1 |
16-68844086-C-T |
c.688-14C>T |
- |
IntronicSNV |
- |
5/15 |
1 |
16-68844098-A-G |
c.688-2A>G |
- |
IntronicSNV |
- |
5/15 |
1 |
16-68844099-G-C |
c.688-1G>C |
- |
IntronicSNV |
- |
5/15 |
2 |
16-68844100-GCTCTTCTCTCACGCTGTGTCATCCAACGGGAATGCAGTTGAGGATCCAATGGAGATTTT-G |
c.688_746del |
p.Leu230Aspfs*8 |
Unclassified |
6/16 |
- |
1 |
16-68844102-C-G |
c.690C>G |
p.Leu230Leu |
Synonymous |
6/16 |
- |
1 |
16-68844102-C-T |
c.690C>T |
p.Leu230Leu |
Synonymous |
6/16 |
- |
1 |
16-68844107-C-G |
c.695C>G |
p.Ser232Cys |
Missense |
6/16 |
- |
3 |
16-68844109-C-A |
c.697C>A |
p.His233Asn |
Missense |
6/16 |
- |
1 |
16-68844111-C-G |
c.699C>G |
p.His233Gln |
Missense |
6/16 |
- |
3 |
16-68844111-C-T |
c.699C>T |
p.His233His |
Synonymous |
6/16 |
- |
3 |
16-68844124-A-G |
c.712A>G |
p.Asn238Asp |
Missense |
6/16 |
- |
2 |
16-68844127-G-A |
c.715G>A |
p.Gly239Arg |
Missense |
6/16 |
- |
8 |
16-68844136-G-A |
c.724G>A |
p.Val242Ile |
Missense |
6/16 |
- |
1 |
16-68844139-G-A |
c.727G>A |
p.Glu243Lys |
Missense |
6/16 |
- |
1 |
16-68844139-G-T |
c.727G>T |
p.Glu243* |
Nonsense |
6/16 |
- |
1 |
16-68844143-A-G |
c.731A>G |
p.Asp244Gly |
Missense |
6/16 |
- |
4 |
16-68844146-C-T |
c.734C>T |
p.Pro245Leu |
Missense |
6/16 |
- |
1 |
16-68844151-G-T |
c.739G>T |
p.Glu247* |
Nonsense |
6/16 |
- |
1 |
16-68844154-A-T |
c.742A>T |
p.Ile248Phe |
Missense |
6/16 |
- |
1 |
16-68844155-T-A |
c.743T>A |
p.Ile248Asn |
Missense |
6/16 |
- |
1 |
16-68844161-T-G |
c.749T>G |
p.Ile250Ser |
Missense |
6/16 |
- |
1 |
16-68844164-C-T |
c.752C>T |
p.Thr251Met |
Missense |
6/16 |
- |
2 |
16-68844167-T-G |
c.755T>G |
p.Val252Gly |
Missense |
6/16 |
- |
2 |
16-68844171-C-A |
c.759C>A |
p.Thr253Thr |
Synonymous |
6/16 |
- |
1 |
16-68844171-C-G |
c.759C>G |
p.Thr253Thr |
Synonymous |
6/16 |
- |
1 |
16-68844171-C-T |
c.759C>T |
p.Thr253Thr |
Synonymous |
6/16 |
- |
1 |
16-68844172-G-A |
c.760G>A |
p.Asp254Asn |
Missense |
6/16 |
- |
7 |
16-68844172-G-C |
c.760G>C |
p.Asp254His |
Missense |
6/16 |
- |
2 |
16-68844172-G-T |
c.760G>T |
p.Asp254Tyr |
Missense |
6/16 |
- |
7 |
16-68844173-A-G |
c.761A>G |
p.Asp254Gly |
Missense |
6/16 |
- |
2 |
16-68844173-A-T |
c.761A>T |
p.Asp254Val |
Missense |
6/16 |
- |
1 |
16-68844177-G-C |
c.765G>C |
p.Gln255His |
Missense |
6/16 |
- |
1 |
16-68844177-G-T |
c.765G>T |
p.Gln255His |
Missense |
6/16 |
- |
1 |
16-68844179-A-G |
c.767A>G |
p.Asn256Ser |
Missense |
6/16 |
- |
2 |
16-68844180-T-A |
c.768T>A |
p.Asn256Lys |
Missense |
6/16 |
- |
4 |
16-68844180-T-G |
c.768T>G |
p.Asn256Lys |
Missense |
6/16 |
- |
3 |
16-68844181-G-A |
c.769G>A |
p.Asp257Asn |
Missense |
6/16 |
- |
2 |
16-68844181-G-T |
c.769G>T |
p.Asp257Tyr |
Missense |
6/16 |
- |
1 |
16-68844182-A-C |
c.770A>C |
p.Asp257Ala |
Missense |
6/16 |
- |
1 |
16-68844182-A-G |
c.770A>G |
p.Asp257Gly |
Missense |
6/16 |
- |
2 |
16-68844182-A-T |
c.770A>T |
p.Asp257Val |
Missense |
6/16 |
- |
2 |
16-68844188-A-C |
c.776A>C |
p.Lys259Thr |
Missense |
6/16 |
- |
1 |
16-68844189-G-A |
c.777G>A |
p.Lys259Lys |
Synonymous |
6/16 |
- |
1 |
16-68844191-C-G |
c.779C>G |
p.Pro260Arg |
Missense |
6/16 |
- |
1 |
16-68844191-C-T |
c.779C>T |
p.Pro260Leu |
Missense |
6/16 |
- |
1 |
16-68844193-G-A |
c.781G>A |
p.Glu261Lys |
Missense |
6/16 |
- |
1 |
16-68844193-G-T |
c.781G>T |
p.Glu261* |
Nonsense |
6/16 |
- |
1 |
16-68844196-T-G |
c.784T>G |
p.Phe262Val |
Missense |
6/16 |
- |
1 |
16-68844202-C-T |
c.790C>T |
p.Gln264* |
Nonsense |
6/16 |
- |
1 |
16-68844207-G-C |
c.795G>C |
p.Glu265Asp |
Missense |
6/16 |
- |
1 |
16-68844207-G-T |
c.795G>T |
p.Glu265Asp |
Missense |
6/16 |
- |
1 |
16-68844210-TC-T |
c.798del |
p.Phe267Leufs*15 |
Frameshift |
6/16 |
- |
1 |
16-68844220-T-G |
c.808T>G |
p.Ser270Ala |
Missense |
6/16 |
- |
5 |
16-68844232-G-A |
c.820G>A |
p.Gly274Ser |
Missense |
6/16 |
- |
4 |
16-68844233-G-A |
c.821G>A |
p.Gly274Asp |
Missense |
6/16 |
- |
1 |
16-68844244-G-A |
c.832G>A |
p.Gly278Arg |
Missense |
6/16 |
- |
1 |
16-68844245-G-A |
c.832+1G>A |
- |
IntronicSNV |
- |
6/15 |
1 |
16-68844245-G-T |
c.832+1G>T |
- |
IntronicSNV |
- |
6/15 |
3 |
16-68844836-C-T |
c.832+592C>T |
- |
IntronicSNV |
- |
6/15 |
1 |
16-68844967-A-G |
c.833-620A>G |
- |
IntronicSNV |
- |
6/15 |
2 |
16-68845211-A-C |
c.833-376A>C |
- |
IntronicSNV |
- |
6/15 |
1 |
16-68845571-C-G |
c.833-16C>G |
- |
IntronicSNV |
- |
6/15 |
1 |
16-68845585-A-G |
c.833-2A>G |
- |
IntronicSNV |
- |
6/15 |
2 |
16-68845600-G-A |
c.846G>A |
p.Met282Ile |
Missense |
7/16 |
- |
2 |
16-68845600-G-C |
c.846G>C |
p.Met282Ile |
Missense |
7/16 |
- |
2 |
16-68845600-G-T |
c.846G>T |
p.Met282Ile |
Missense |
7/16 |
- |
2 |
16-68845610-G-A |
c.856G>A |
p.Ala286Thr |
Missense |
7/16 |
- |
1 |
16-68845616-G-A |
c.862G>A |
p.Asp288Asn |
Missense |
7/16 |
- |
2 |
16-68845616-G-C |
c.862G>C |
p.Asp288His |
Missense |
7/16 |
- |
2 |
16-68845617-A-T |
c.863A>T |
p.Asp288Val |
Missense |
7/16 |
- |
1 |
16-68845618-C-A |
c.864C>A |
p.Asp288Glu |
Missense |
7/16 |
- |
1 |
16-68845618-C-G |
c.864C>G |
p.Asp288Glu |
Missense |
7/16 |
- |
1 |
16-68845619-G-A |
c.865G>A |
p.Ala289Thr |
Missense |
7/16 |
- |
2 |
16-68845620-C-T |
c.866C>T |
p.Ala289Val |
Missense |
7/16 |
- |
2 |
16-68845620-GC-G |
c.866del |
p.Ala289Glyfs*5 |
Frameshift |
7/16 |
- |
1 |
16-68845621-G-A |
c.867G>A |
p.Ala289Ala |
Synonymous |
7/16 |
- |
1 |
16-68845622-G-A |
c.868G>A |
p.Asp290Asn |
Missense |
7/16 |
- |
1 |
16-68845623-A-G |
c.869A>G |
p.Asp290Gly |
Missense |
7/16 |
- |
1 |
16-68845625-G-A |
c.871G>A |
p.Asp291Asn |
Missense |
7/16 |
- |
1 |
16-68845638-C-T |
c.884C>T |
p.Thr295Ile |
Missense |
7/16 |
- |
1 |
16-68845644-A-G |
c.890A>G |
p.Asn297Ser |
Missense |
7/16 |
- |
1 |
16-68845646-G-A |
c.892G>A |
p.Ala298Thr |
Missense |
7/16 |
- |
14 |
16-68845647-C-A |
c.893C>A |
p.Ala298Asp |
Missense |
7/16 |
- |
1 |
16-68845648-C-T |
c.894C>T |
p.Ala298Ala |
Synonymous |
7/16 |
- |
2 |
16-68845649-G-A |
c.895G>A |
p.Ala299Thr |
Missense |
7/16 |
- |
1 |
16-68845649-G-T |
c.895G>T |
p.Ala299Ser |
Missense |
7/16 |
- |
1 |
16-68845652-A-G |
c.898A>G |
p.Ile300Val |
Missense |
7/16 |
- |
1 |
16-68845654-C-G |
c.900C>G |
p.Ile300Met |
Missense |
7/16 |
- |
1 |
16-68845661-A-T |
c.907A>T |
p.Thr303Ser |
Missense |
7/16 |
- |
1 |
16-68845667-C-A |
c.913C>A |
p.Leu305Ile |
Missense |
7/16 |
- |
1 |
16-68845671-G-C |
c.917G>C |
p.Ser306Thr |
Missense |
7/16 |
- |
1 |
16-68845675-A-G |
c.921A>G |
p.Gln307Gln |
Synonymous |
7/16 |
- |
2 |
16-68845676-G-A |
c.922G>A |
p.Asp308Asn |
Missense |
7/16 |
- |
1 |
16-68845679-C-T |
c.925C>T |
p.Pro309Ser |
Missense |
7/16 |
- |
1 |
16-68845685-C-T |
c.931C>T |
p.Leu311Phe |
Missense |
7/16 |
- |
1 |
16-68845687-C-A |
c.933C>A |
p.Leu311Leu |
Synonymous |
7/16 |
- |
1 |
16-68845687-C-G |
c.933C>G |
p.Leu311Leu |
Synonymous |
7/16 |
- |
1 |
16-68845687-C-T |
c.933C>T |
p.Leu311Leu |
Synonymous |
7/16 |
- |
1 |
16-68845688-C-A |
c.934C>A |
p.Pro312Thr |
Missense |
7/16 |
- |
1 |
16-68845693-C-G |
c.939C>G |
p.Asp313Glu |
Missense |
7/16 |
- |
1 |
16-68845694-A-T |
c.940A>T |
p.Lys314* |
Nonsense |
7/16 |
- |
1 |
16-68845698-A-AA |
c.944dup |
p.Asn315Lysfs*6 |
Frameshift |
7/16 |
- |
1 |
16-68845698-A-G |
c.944A>G |
p.Asn315Ser |
Missense |
7/16 |
- |
1 |
16-68845699-T-A |
c.945T>A |
p.Asn315Lys |
Missense |
7/16 |
- |
1 |
16-68845699-T-G |
c.945T>G |
p.Asn315Lys |
Missense |
7/16 |
- |
1 |
16-68845701-ATGTTCA-A |
c.947_952del |
p.Met316_Phe317del |
InFrameDeletion |
7/16 |
- |
1 |
16-68845702-TGTT-T |
c.948_950del |
p.Met316_Phe317delinsIle |
MultiAAMissense |
7/16 |
- |
1 |
16-68845704-T-C |
c.950T>C |
p.Phe317Ser |
Missense |
7/16 |
- |
1 |
16-68845709-A-G |
c.955A>G |
p.Ile319Val |
Missense |
7/16 |
- |
1 |
16-68845731-T-A |
c.977T>A |
p.Ile326Asn |
Missense |
7/16 |
- |
1 |
16-68845732-C-A |
c.978C>A |
p.Ile326Ile |
Synonymous |
7/16 |
- |
1 |
16-68845739-G-T |
c.985G>T |
p.Val329Phe |
Missense |
7/16 |
- |
1 |
16-68845743-C-T |
c.989C>T |
p.Thr330Ile |
Missense |
7/16 |
- |
1 |
16-68845754-G-C |
c.1000G>C |
p.Asp334His |
Missense |
7/16 |
- |
1 |
16-68845757-C-CT |
c.1003_1004insT |
p.Arg335Leufs*15 |
Frameshift |
7/16 |
- |
1 |
16-68845757-C-G |
c.1003C>G |
p.Arg335Gly |
Missense |
7/16 |
- |
2 |
16-68845757-C-T |
c.1003C>T |
p.Arg335* |
Nonsense |
7/16 |
- |
17 |
16-68845758-G-A |
c.1004G>A |
p.Arg335Gln |
Missense |
7/16 |
- |
3 |
16-68845760-G-A |
c.1006G>A |
p.Glu336Lys |
Missense |
7/16 |
- |
1 |
16-68845762-G-A |
c.1008G>A |
p.Glu336Glu |
Synonymous |
7/16 |
- |
2 |
16-68845762-G-T |
c.1008G>T |
p.Glu336Asp |
Missense |
7/16 |
- |
7 |
16-68845764-T-G |
c.1008+2T>G |
- |
IntronicSNV |
- |
7/15 |
1 |
16-68845809-T-C |
c.1008+47T>C |
- |
IntronicSNV |
- |
7/15 |
1 |
16-68846036-A-C |
c.1009-2A>C |
- |
IntronicSNV |
- |
7/15 |
1 |
16-68846036-A-G |
c.1009-2A>G |
- |
IntronicSNV |
- |
7/15 |
1 |
16-68846045-C-T |
c.1016C>T |
p.Pro339Leu |
Missense |
8/16 |
- |
1 |
16-68846047-A-G |
c.1018A>G |
p.Thr340Ala |
Missense |
8/16 |
- |
30 |
16-68846047-A-T |
c.1018A>T |
p.Thr340Ser |
Missense |
8/16 |
- |
4 |
16-68846048-C-T |
c.1019C>T |
p.Thr340Met |
Missense |
8/16 |
- |
2 |
16-68846049-G-A |
c.1020G>A |
p.Thr340Thr |
Synonymous |
8/16 |
- |
1 |
16-68846049-G-T |
c.1020G>T |
p.Thr340Thr |
Synonymous |
8/16 |
- |
1 |
16-68846050-T-C |
c.1021T>C |
p.Tyr341His |
Missense |
8/16 |
- |
1 |
16-68846050-T-G |
c.1021T>G |
p.Tyr341Asp |
Missense |
8/16 |
- |
1 |
16-68846052-T-G |
c.1023T>G |
p.Tyr341* |
Nonsense |
8/16 |
- |
6 |
16-68846054-C-T |
c.1025C>T |
p.Thr342Ile |
Missense |
8/16 |
- |
1 |
16-68846056-C-A |
c.1027C>A |
p.Leu343Met |
Missense |
8/16 |
- |
1 |
16-68846057-T-A |
c.1028T>A |
p.Leu343Gln |
Missense |
8/16 |
- |
1 |
16-68846057-T-C |
c.1028T>C |
p.Leu343Pro |
Missense |
8/16 |
- |
1 |
16-68846059-G-A |
c.1030G>A |
p.Val344Met |
Missense |
8/16 |
- |
1 |
16-68846065-C-T |
c.1036C>T |
p.Gln346* |
Nonsense |
8/16 |
- |
3 |
16-68846069-C-T |
c.1040C>T |
p.Ala347Val |
Missense |
8/16 |
- |
1 |
16-68846071-G-A |
c.1042G>A |
p.Ala348Thr |
Missense |
8/16 |
- |
1 |
16-68846072-C-T |
c.1043C>T |
p.Ala348Val |
Missense |
8/16 |
- |
2 |
16-68846074-G-T |
c.1045G>T |
p.Asp349Tyr |
Missense |
8/16 |
- |
1 |
16-68846076-C-T |
c.1047C>T |
p.Asp349Asp |
Synonymous |
8/16 |
- |
1 |
16-68846080-C-G |
c.1051C>G |
p.Gln351Glu |
Missense |
8/16 |
- |
1 |
16-68846080-C-T |
c.1051C>T |
p.Gln351* |
Nonsense |
8/16 |
- |
1 |
16-68846086-G-A |
c.1057G>A |
p.Glu353Lys |
Missense |
8/16 |
- |
3 |
16-68846089-G-T |
c.1060G>T |
p.Gly354Trp |
Missense |
8/16 |
- |
1 |
16-68846091-G-A |
c.1062G>A |
p.Gly354Gly |
Synonymous |
8/16 |
- |
1 |
16-68846091-G-C |
c.1062G>C |
p.Gly354Gly |
Synonymous |
8/16 |
- |
1 |
16-68846091-G-T |
c.1062G>T |
p.Gly354Gly |
Synonymous |
8/16 |
- |
1 |
16-68846092-T-C |
c.1063T>C |
p.Leu355Leu |
Synonymous |
8/16 |
- |
1 |
16-68846092-TT-AC |
c.1063_1064delinsAC |
p.Leu355Thr |
Missense |
8/16 |
- |
1 |
16-68846093-T-TT |
c.1064dup |
p.Leu355Phefs*13 |
Frameshift |
8/16 |
- |
1 |
16-68846093-TT-T |
c.1064del |
p.Leu355* |
Frameshift |
8/16 |
- |
1 |
16-68846099-C-T |
c.1070C>T |
p.Thr357Ile |
Missense |
8/16 |
- |
1 |
16-68846107-A-G |
c.1078A>G |
p.Thr360Ala |
Missense |
8/16 |
- |
1 |
16-68846114-GT-G |
c.1085del |
p.Val362Glyfs*31 |
Frameshift |
8/16 |
- |
1 |
16-68846119-A-T |
c.1090A>T |
p.Thr364Ser |
Missense |
8/16 |
- |
2 |
16-68846122-G-A |
c.1093G>A |
p.Val365Ile |
Missense |
8/16 |
- |
1 |
16-68846122-G-C |
c.1093G>C |
p.Val365Leu |
Missense |
8/16 |
- |
1 |
16-68846126-ACT-A |
c.1097_1098del |
p.Thr366Argfs*5 |
Frameshift |
8/16 |
- |
1 |
16-68846126-C-A |
c.1097C>A |
p.Thr366Asn |
Missense |
8/16 |
- |
1 |
16-68846128-G-A |
c.1099G>A |
p.Asp367Asn |
Missense |
8/16 |
- |
1 |
16-68846131-A-G |
c.1102A>G |
p.Thr368Ala |
Missense |
8/16 |
- |
1 |
16-68846132-C-G |
c.1103C>G |
p.Thr368Ser |
Missense |
8/16 |
- |
1 |
16-68846134-A-G |
c.1105A>G |
p.Asn369Asp |
Missense |
8/16 |
- |
1 |
16-68846136-C-T |
c.1107C>T |
p.Asn369Asn |
Synonymous |
8/16 |
- |
1 |
16-68846137-G-A |
c.1108G>A |
p.Asp370Asn |
Missense |
8/16 |
- |
2 |
16-68846137-G-C |
c.1108G>C |
p.Asp370His |
Missense |
8/16 |
- |
3 |
16-68846137-G-T |
c.1108G>T |
p.Asp370Tyr |
Missense |
8/16 |
- |
4 |
16-68846138-A-C |
c.1109A>C |
p.Asp370Ala |
Missense |
8/16 |
- |
1 |
16-68846141-A-G |
c.1112A>G |
p.Asn371Ser |
Missense |
8/16 |
- |
1 |
16-68846144-C-A |
c.1115C>A |
p.Pro372His |
Missense |
8/16 |
- |
1 |
16-68846146-C-G |
c.1117C>G |
p.Pro373Ala |
Missense |
8/16 |
- |
1 |
16-68846147-C-G |
c.1118C>G |
p.Pro373Arg |
Missense |
8/16 |
- |
2 |
16-68846147-C-T |
c.1118C>T |
p.Pro373Leu |
Missense |
8/16 |
- |
15 |
16-68846151-C-A |
c.1122C>A |
p.Ile374Ile |
Synonymous |
8/16 |
- |
1 |
16-68846151-C-T |
c.1122C>T |
p.Ile374Ile |
Synonymous |
8/16 |
- |
1 |
16-68846159-C-G |
c.1130C>G |
p.Pro377Arg |
Missense |
8/16 |
- |
1 |
16-68846159-C-T |
c.1130C>T |
p.Pro377Leu |
Missense |
8/16 |
- |
1 |
16-68846164-CACG-C |
c.1135_1137del |
p.Thr379del |
InFrameDeletion |
8/16 |
- |
1 |
16-68846164-CACGGTAAT-C |
c.1135_1137+5del |
- |
SpliceDonorDeletion |
8/16 |
8/15 |
2 |
16-68846165-C-T |
c.1136C>T |
p.Thr379Met |
Missense |
8/16 |
- |
2 |
16-68846166-G-A |
c.1137G>A |
p.Thr379Thr |
Synonymous |
8/16 |
- |
15 |
16-68846166-G-T |
c.1137G>T |
p.Thr379Thr |
Synonymous |
8/16 |
- |
5 |
16-68846167-G-A |
c.1137+1G>A |
- |
IntronicSNV |
- |
8/15 |
1 |
16-68846167-GG-G |
c.1137+1del |
- |
IntronicDeletion |
- |
8/15 |
1 |
16-68847213-C-T |
c.1138-3C>T |
- |
IntronicSNV |
- |
8/15 |
2 |
16-68847216-GTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGAC-G |
c.1139_1197del |
p.Tyr380* |
Unclassified |
9/16 |
- |
2 |
16-68847223-G-A |
c.1145G>A |
p.Gly382Asp |
Missense |
9/16 |
- |
1 |
16-68847225-C-T |
c.1147C>T |
p.Gln383* |
Nonsense |
9/16 |
- |
2 |
16-68847227-G-T |
c.1149G>T |
p.Gln383His |
Missense |
9/16 |
- |
1 |
16-68847232-C-T |
c.1154C>T |
p.Pro385Leu |
Missense |
9/16 |
- |
1 |
16-68847234-G-A |
c.1156G>A |
p.Glu386Lys |
Missense |
9/16 |
- |
2 |
16-68847239-C-A |
c.1161C>A |
p.Asn387Lys |
Missense |
9/16 |
- |
1 |
16-68847239-C-T |
c.1161C>T |
p.Asn387Asn |
Synonymous |
9/16 |
- |
1 |
16-68847240-G-A |
c.1162G>A |
p.Glu388Lys |
Missense |
9/16 |
- |
2 |
16-68847247-A-G |
c.1169A>G |
p.Asn390Ser |
Missense |
9/16 |
- |
1 |
16-68847248-C-T |
c.1170C>T |
p.Asn390Asn |
Synonymous |
9/16 |
- |
1 |
16-68847249-G-A |
c.1171G>A |
p.Val391Ile |
Missense |
9/16 |
- |
2 |
16-68847249-G-T |
c.1171G>T |
p.Val391Phe |
Missense |
9/16 |
- |
1 |
16-68847251-C-T |
c.1173C>T |
p.Val391Val |
Synonymous |
9/16 |
- |
1 |
16-68847256-T-A |
c.1178T>A |
p.Ile393Asn |
Missense |
9/16 |
- |
2 |
16-68847267-A-T |
c.1189A>T |
p.Lys397* |
Nonsense |
9/16 |
- |
2 |
16-68847273-A-G |
c.1195A>G |
p.Thr399Ala |
Missense |
9/16 |
- |
1 |
16-68847274-C-T |
c.1196C>T |
p.Thr399Ile |
Missense |
9/16 |
- |
3 |
16-68847276-G-A |
c.1198G>A |
p.Asp400Asn |
Missense |
9/16 |
- |
1 |
16-68847276-G-C |
c.1198G>C |
p.Asp400His |
Missense |
9/16 |
- |
1 |
16-68847276-G-T |
c.1198G>T |
p.Asp400Tyr |
Missense |
9/16 |
- |
1 |
16-68847277-A-T |
c.1199A>T |
p.Asp400Val |
Missense |
9/16 |
- |
4 |
16-68847279-G-A |
c.1201G>A |
p.Ala401Thr |
Missense |
9/16 |
- |
1 |
16-68847280-C-T |
c.1202C>T |
p.Ala401Val |
Missense |
9/16 |
- |
1 |
16-68847282-G-A |
c.1204G>A |
p.Asp402Asn |
Missense |
9/16 |
- |
3 |
16-68847282-G-C |
c.1204G>C |
p.Asp402His |
Missense |
9/16 |
- |
3 |
16-68847283-A-C |
c.1205A>C |
p.Asp402Ala |
Missense |
9/16 |
- |
1 |
16-68847290-CC-C |
c.1212del |
p.Asn405Ilefs*12 |
Frameshift |
9/16 |
- |
4 |
16-68847291-AA-GC |
c.1213_1214delinsGC |
p.Asn405Ala |
Missense |
9/16 |
- |
2 |
16-68847292-A-C |
c.1214A>C |
p.Asn405Thr |
Missense |
9/16 |
- |
1 |
16-68847292-A-G |
c.1214A>G |
p.Asn405Ser |
Missense |
9/16 |
- |
2 |
16-68847294-A-G |
c.1216A>G |
p.Thr406Ala |
Missense |
9/16 |
- |
1 |
16-68847297-C-T |
c.1219C>T |
p.Pro407Ser |
Missense |
9/16 |
- |
1 |
16-68847301-C-G |
c.1223C>G |
p.Ala408Gly |
Missense |
9/16 |
- |
2 |
16-68847301-C-T |
c.1223C>T |
p.Ala408Val |
Missense |
9/16 |
- |
5 |
16-68847302-G-A |
c.1224G>A |
p.Ala408Ala |
Synonymous |
9/16 |
- |
2 |
16-68847302-G-T |
c.1224G>T |
p.Ala408Ala |
Synonymous |
9/16 |
- |
1 |
16-68847303-T-C |
c.1225T>C |
p.Trp409Arg |
Missense |
9/16 |
- |
7 |
16-68847304-G-A |
c.1226G>A |
p.Trp409* |
Nonsense |
9/16 |
- |
2 |
16-68847309-G-GG |
c.1231dup |
p.Ala411Glyfs*8 |
Frameshift |
9/16 |
- |
1 |
16-68847313-T-C |
c.1235T>C |
p.Val412Ala |
Missense |
9/16 |
- |
1 |
16-68847319-C-T |
c.1241C>T |
p.Thr414Ile |
Missense |
9/16 |
- |
1 |
16-68847321-A-C |
c.1243A>C |
p.Ile415Leu |
Missense |
9/16 |
- |
2 |
16-68847322-T-C |
c.1244T>C |
p.Ile415Thr |
Missense |
9/16 |
- |
1 |
16-68847330-G-A |
c.1252G>A |
p.Asp418Asn |
Missense |
9/16 |
- |
1 |
16-68847333-G-A |
c.1255G>A |
p.Asp419Asn |
Missense |
9/16 |
- |
1 |
16-68847337-G-A |
c.1259G>A |
p.Gly420Asp |
Missense |
9/16 |
- |
1 |
16-68847342-C-A |
c.1264C>A |
p.Gln422Lys |
Missense |
9/16 |
- |
1 |
16-68847350-C-T |
c.1272C>T |
p.Val424Val |
Synonymous |
9/16 |
- |
3 |
16-68847351-G-A |
c.1273G>A |
p.Val425Ile |
Missense |
9/16 |
- |
4 |
16-68847351-G-C |
c.1273G>C |
p.Val425Leu |
Missense |
9/16 |
- |
2 |
16-68847363-C-T |
c.1285C>T |
p.Pro429Ser |
Missense |
9/16 |
- |
5 |
16-68847364-C-T |
c.1286C>T |
p.Pro429Leu |
Missense |
9/16 |
- |
1 |
16-68847367-T-G |
c.1289T>G |
p.Val430Gly |
Missense |
9/16 |
- |
1 |
16-68847374-C-G |
c.1296C>G |
p.Asn432Lys |
Missense |
9/16 |
- |
5 |
16-68847374-C-T |
c.1296C>T |
p.Asn432Asn |
Synonymous |
9/16 |
- |
2 |
16-68847375-G-A |
c.1297G>A |
p.Asp433Asn |
Missense |
9/16 |
- |
9 |
16-68847376-A-G |
c.1298A>G |
p.Asp433Gly |
Missense |
9/16 |
- |
3 |
16-68847381-A-AA |
c.1303dup |
p.Ile435Asnfs*11 |
Frameshift |
9/16 |
- |
1 |
16-68847382-T-C |
c.1304T>C |
p.Ile435Thr |
Missense |
9/16 |
- |
1 |
16-68847393-G-A |
c.1315G>A |
p.Ala439Thr |
Missense |
9/16 |
- |
1 |
16-68847398-G-T |
c.1320G>T |
p.Lys440Asn |
Missense |
9/16 |
- |
2 |
16-68847399-G-A |
c.1320+1G>A |
- |
IntronicSNV |
- |
9/15 |
1 |
16-68847399-G-C |
c.1320+1G>C |
- |
IntronicSNV |
- |
9/15 |
1 |
16-68847399-G-T |
c.1320+1G>T |
- |
IntronicSNV |
- |
9/15 |
2 |
16-68847403-G-A |
c.1320+5G>A |
- |
IntronicSNV |
- |
9/15 |
1 |
16-68847405-A-G |
c.1320+7A>G |
- |
IntronicSNV |
- |
9/15 |
1 |
16-68847433-C-T |
c.1320+35C>T |
- |
IntronicSNV |
- |
9/15 |
1 |
16-68847576-A-G |
c.1320+178A>G |
- |
IntronicSNV |
- |
9/15 |
1 |
16-68847584-T-C |
c.1320+186T>C |
- |
IntronicSNV |
- |
9/15 |
3 |
16-68847584-T-G |
c.1320+186T>G |
- |
IntronicSNV |
- |
9/15 |
3 |
16-68849431-A-C |
c.1334A>C |
p.Glu445Ala |
Missense |
10/16 |
- |
1 |
16-68849442-C-T |
c.1345C>T |
p.Gln449* |
Nonsense |
10/16 |
- |
1 |
16-68849445-T-A |
c.1348T>A |
p.Tyr450Asn |
Missense |
10/16 |
- |
1 |
16-68849456-C-T |
c.1359C>T |
p.His453His |
Synonymous |
10/16 |
- |
1 |
16-68849457-G-A |
c.1360G>A |
p.Val454Ile |
Missense |
10/16 |
- |
1 |
16-68849458-GTAG-G |
c.1361_1363del |
p.Val454del |
InFrameDeletion |
10/16 |
- |
1 |
16-68849458-T-A |
c.1361T>A |
p.Val454Glu |
Missense |
10/16 |
- |
1 |
16-68849463-G-A |
c.1366G>A |
p.Val456Met |
Missense |
10/16 |
- |
1 |
16-68849470-A-T |
c.1373A>T |
p.Asn458Ile |
Missense |
10/16 |
- |
1 |
16-68849472-G-A |
c.1375G>A |
p.Val459Met |
Missense |
10/16 |
- |
1 |
16-68849477-TA-T |
c.1380del |
p.Pro461Leufs*20 |
Frameshift |
10/16 |
- |
3 |
16-68849481-T-C |
c.1384T>C |
p.Phe462Leu |
Missense |
10/16 |
- |
1 |
16-68849483-T-A |
c.1386T>A |
p.Phe462Leu |
Missense |
10/16 |
- |
1 |
16-68849483-T-G |
c.1386T>G |
p.Phe462Leu |
Missense |
10/16 |
- |
1 |
16-68849483-TT-T |
c.1386del |
p.Phe462Leufs*19 |
Frameshift |
10/16 |
- |
2 |
16-68849484-G-C |
c.1387G>C |
p.Glu463Gln |
Missense |
10/16 |
- |
2 |
16-68849484-G-T |
c.1387G>T |
p.Glu463* |
Nonsense |
10/16 |
- |
1 |
16-68849501-CC-C |
c.1404del |
p.Ser469Profs*12 |
Frameshift |
10/16 |
- |
2 |
16-68849506-C-T |
c.1409C>T |
p.Thr470Ile |
Missense |
10/16 |
- |
3 |
16-68849513-C-T |
c.1416C>T |
p.Thr472Thr |
Synonymous |
10/16 |
- |
1 |
16-68849514-G-A |
c.1417G>A |
p.Val473Ile |
Missense |
10/16 |
- |
2 |
16-68849515-T-A |
c.1418T>A |
p.Val473Asp |
Missense |
10/16 |
- |
1 |
16-68849519-C-T |
c.1422C>T |
p.Thr474Thr |
Synonymous |
10/16 |
- |
1 |
16-68849520-G-A |
c.1423G>A |
p.Val475Met |
Missense |
10/16 |
- |
1 |
16-68849530-T-C |
c.1433T>C |
p.Leu478Pro |
Missense |
10/16 |
- |
1 |
16-68849533-A-G |
c.1436A>G |
p.Asp479Gly |
Missense |
10/16 |
- |
1 |
16-68849553-T-G |
c.1456T>G |
p.Phe486Val |
Missense |
10/16 |
- |
1 |
16-68849557-T-C |
c.1460T>C |
p.Val487Ala |
Missense |
10/16 |
- |
3 |
16-68849563-C-CC |
c.1466dup |
p.Glu490* |
Nonsense |
10/16 |
- |
1 |
16-68849563-C-T |
c.1466C>T |
p.Pro489Leu |
Missense |
10/16 |
- |
1 |
16-68849565-G-A |
c.1468G>A |
p.Glu490Lys |
Missense |
10/16 |
- |
1 |
16-68849565-GA-AC |
c.1468_1469delinsAC |
p.Glu490Thr |
Missense |
10/16 |
- |
1 |
16-68849567-AAAAGAGAGTGGAAG-A |
c.1470_1483del |
p.Glu490Aspfs*42 |
Frameshift |
10/16 |
- |
1 |
16-68849569-A-AA |
c.1472dup |
p.Arg492Glufs*45 |
Frameshift |
10/16 |
- |
1 |
16-68849573-GA-G |
c.1476del |
p.Val493Trpfs*29 |
Frameshift |
10/16 |
- |
1 |
16-68849574-G-A |
c.1477G>A |
p.Val493Met |
Missense |
10/16 |
- |
1 |
16-68849574-G-C |
c.1477G>C |
p.Val493Leu |
Missense |
10/16 |
- |
1 |
16-68849575-T-C |
c.1478T>C |
p.Val493Ala |
Missense |
10/16 |
- |
1 |
16-68849575-T-G |
c.1478T>G |
p.Val493Gly |
Missense |
10/16 |
- |
1 |
16-68849586-CG-C |
c.1489del |
p.Glu497Argfs*25 |
Frameshift |
10/16 |
- |
1 |
16-68849586-G-A |
c.1489G>A |
p.Glu497Lys |
Missense |
10/16 |
- |
4 |
16-68849591-C-A |
c.1494C>A |
p.Asp498Glu |
Missense |
10/16 |
- |
1 |
16-68849591-C-T |
c.1494C>T |
p.Asp498Asp |
Synonymous |
10/16 |
- |
1 |
16-68849598-G-A |
c.1501G>A |
p.Val501Met |
Missense |
10/16 |
- |
2 |
16-68849598-G-T |
c.1501G>T |
p.Val501Leu |
Missense |
10/16 |
- |
1 |
16-68849604-C-T |
c.1507C>T |
p.Gln503* |
Nonsense |
10/16 |
- |
1 |
16-68849609-A-C |
c.1512A>C |
p.Glu504Asp |
Missense |
10/16 |
- |
1 |
16-68849609-A-T |
c.1512A>T |
p.Glu504Asp |
Missense |
10/16 |
- |
1 |
16-68849611-T-C |
c.1514T>C |
p.Ile505Thr |
Missense |
10/16 |
- |
1 |
16-68849625-G-A |
c.1528G>A |
p.Ala510Thr |
Missense |
10/16 |
- |
1 |
16-68849628-C-T |
c.1531C>T |
p.Gln511* |
Nonsense |
10/16 |
- |
2 |
16-68849638-A-G |
c.1541A>G |
p.Asp514Gly |
Missense |
10/16 |
- |
1 |
16-68849662-C-A |
c.1565C>A |
p.Thr522Lys |
Missense |
10/16 |
- |
1 |
16-68849662-C-T |
c.1565C>T |
p.Thr522Ile |
Missense |
10/16 |
- |
2 |
16-68849663-G-A |
c.1565+1G>A |
- |
IntronicSNV |
- |
10/15 |
10 |
16-68849663-G-C |
c.1565+1G>C |
- |
IntronicSNV |
- |
10/15 |
2 |
16-68849663-G-T |
c.1565+1G>T |
- |
IntronicSNV |
- |
10/15 |
4 |
16-68849664-T-TT |
c.1565+2dup |
- |
IntronicInsertion |
- |
10/15 |
3 |
16-68849837-C-T |
c.1565+175C>T |
- |
IntronicSNV |
- |
10/15 |
2 |
16-68849904-A-G |
c.1565+242A>G |
- |
IntronicSNV |
- |
10/15 |
1 |
16-68850384-C-T |
c.1565+722C>T |
- |
IntronicSNV |
- |
10/15 |
1 |
16-68850406-A-T |
c.1565+744A>T |
- |
IntronicSNV |
- |
10/15 |
1 |
16-68850783-A-G |
c.1565+1121A>G |
- |
IntronicSNV |
- |
10/15 |
4 |
16-68852074-T-C |
c.1566-1109T>C |
- |
IntronicSNV |
- |
10/15 |
1 |
16-68852074-T-G |
c.1566-1109T>G |
- |
IntronicSNV |
- |
10/15 |
1 |
16-68852748-G-A |
c.1566-435G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
16-68853103-C-A |
c.1566-80C>A |
- |
IntronicSNV |
- |
10/15 |
2 |
16-68853103-C-G |
c.1566-80C>G |
- |
IntronicSNV |
- |
10/15 |
2 |
16-68853185-A-G |
c.1568A>G |
p.Tyr523Cys |
Missense |
11/16 |
- |
2 |
16-68853194-G-A |
c.1577G>A |
p.Trp526* |
Nonsense |
11/16 |
- |
1 |
16-68853202-A-C |
c.1585A>C |
p.Thr529Pro |
Missense |
11/16 |
- |
1 |
16-68853202-A-G |
c.1585A>G |
p.Thr529Ala |
Missense |
11/16 |
- |
2 |
16-68853204-CT-C |
c.1587del |
p.Ala530Profs*27 |
Frameshift |
11/16 |
- |
1 |
16-68853212-G-A |
c.1595G>A |
p.Trp532* |
Nonsense |
11/16 |
- |
3 |
16-68853213-G-A |
c.1596G>A |
p.Trp532* |
Nonsense |
11/16 |
- |
3 |
16-68853213-G-T |
c.1596G>T |
p.Trp532Cys |
Missense |
11/16 |
- |
2 |
16-68853220-A-C |
c.1603A>C |
p.Ile535Leu |
Missense |
11/16 |
- |
1 |
16-68853227-C-T |
c.1610C>T |
p.Pro537Leu |
Missense |
11/16 |
- |
1 |
16-68853229-GG-G |
c.1612del |
p.Asp538Thrfs*19 |
Frameshift |
11/16 |
- |
2 |
16-68853230-A-G |
c.1613A>G |
p.Asp538Gly |
Missense |
11/16 |
- |
1 |
16-68853231-C-A |
c.1614C>A |
p.Asp538Glu |
Missense |
11/16 |
- |
1 |
16-68853236-G-GG |
c.1619dup |
p.Ala541Cysfs*7 |
Frameshift |
11/16 |
- |
1 |
16-68853238-G-A |
c.1621G>A |
p.Ala541Thr |
Missense |
11/16 |
- |
1 |
16-68853250-C-T |
c.1633C>T |
p.Arg545Trp |
Missense |
11/16 |
- |
1 |
16-68853256-G-T |
c.1639G>T |
p.Glu547* |
Nonsense |
11/16 |
- |
1 |
16-68853262-G-T |
c.1645G>T |
p.Asp549Tyr |
Missense |
11/16 |
- |
1 |
16-68853263-A-C |
c.1646A>C |
p.Asp549Ala |
Missense |
11/16 |
- |
1 |
16-68853268-GG-G |
c.1651del |
p.Glu551Argfs*6 |
Frameshift |
11/16 |
- |
1 |
16-68853283-G-C |
c.1666G>C |
p.Val556Leu |
Missense |
11/16 |
- |
1 |
16-68853283-G-T |
c.1666G>T |
p.Val556Leu |
Missense |
11/16 |
- |
1 |
16-68853288-G-C |
c.1671G>C |
p.Lys557Asn |
Missense |
11/16 |
- |
1 |
16-68853293-G-A |
c.1676G>A |
p.Ser559Asn |
Missense |
11/16 |
- |
3 |
16-68853296-C-G |
c.1679C>G |
p.Thr560Arg |
Missense |
11/16 |
- |
9 |
16-68853296-C-T |
c.1679C>T |
p.Thr560Met |
Missense |
11/16 |
- |
1 |
16-68853297-G-A |
c.1680G>A |
p.Thr560Thr |
Synonymous |
11/16 |
- |
3 |
16-68853297-G-C |
c.1680G>C |
p.Thr560Thr |
Synonymous |
11/16 |
- |
4 |
16-68853297-G-T |
c.1680G>T |
p.Thr560Thr |
Synonymous |
11/16 |
- |
3 |
16-68853299-A-AA |
c.1682dup |
p.Tyr561* |
Nonsense |
11/16 |
- |
1 |
16-68853306-C-A |
c.1689C>A |
p.Ala563Ala |
Synonymous |
11/16 |
- |
1 |
16-68853306-C-G |
c.1689C>G |
p.Ala563Ala |
Synonymous |
11/16 |
- |
1 |
16-68853306-C-T |
c.1689C>T |
p.Ala563Ala |
Synonymous |
11/16 |
- |
1 |
16-68853320-C-G |
c.1703C>G |
p.Thr568Arg |
Missense |
11/16 |
- |
1 |
16-68853327-T-C |
c.1710T>C |
p.Asn570Asn |
Synonymous |
11/16 |
- |
2 |
16-68853328-G-A |
c.1711G>A |
p.Gly571Ser |
Missense |
11/16 |
- |
1 |
16-68853329-G-GG |
c.1711+1dup |
- |
SpliceDonorInsertion |
- |
11/15 |
1 |
16-68853330-GTAAGGG-G |
c.1711+2_1711+7del |
- |
IntronicDeletion |
- |
11/15 |
1 |
16-68853333-G-A |
c.1711+5G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
16-68853671-C-T |
c.1711+343C>T |
- |
IntronicSNV |
- |
11/15 |
5 |
16-68854135-T-C |
c.1711+807T>C |
- |
IntronicSNV |
- |
11/15 |
1 |
16-68854703-G-C |
c.1712-1201G>C |
- |
IntronicSNV |
- |
11/15 |
1 |
16-68855064-A-G |
c.1712-840A>G |
- |
IntronicSNV |
- |
11/15 |
1 |
16-68855852-G-C |
c.1712-52G>C |
- |
IntronicSNV |
- |
11/15 |
1 |
16-68855885-T-C |
c.1712-19T>C |
- |
IntronicSNV |
- |
11/15 |
1 |
16-68855902-A-C |
c.1712-2A>C |
- |
IntronicSNV |
- |
11/15 |
1 |
16-68855903-G-A |
c.1712-1G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
16-68855915-G-C |
c.1723G>C |
p.Ala575Pro |
Missense |
12/16 |
- |
1 |
16-68855925-C-CC |
c.1733dup |
p.Gly579Argfs*9 |
Frameshift |
12/16 |
- |
1 |
16-68855934-T-C |
c.1742T>C |
p.Leu581Pro |
Missense |
12/16 |
- |
1 |
16-68855939-CTG-ATC |
c.1747_1749delinsATC |
p.Leu583Ile |
Missense |
12/16 |
- |
3 |
16-68855940-T-C |
c.1748T>C |
p.Leu583Pro |
Missense |
12/16 |
- |
1 |
16-68855940-T-G |
c.1748T>G |
p.Leu583Arg |
Missense |
12/16 |
- |
5 |
16-68855951-G-T |
c.1759G>T |
p.Asp587Tyr |
Missense |
12/16 |
- |
1 |
16-68855955-GTG-G |
c.1763_1764del |
p.Val588Glufs*2 |
Frameshift |
12/16 |
- |
2 |
16-68855958-A-C |
c.1766A>C |
p.Asn589Thr |
Missense |
12/16 |
- |
1 |
16-68855958-A-G |
c.1766A>G |
p.Asn589Ser |
Missense |
12/16 |
- |
2 |
16-68855958-A-T |
c.1766A>T |
p.Asn589Ile |
Missense |
12/16 |
- |
2 |
16-68855966-G-A |
c.1774G>A |
p.Ala592Thr |
Missense |
12/16 |
- |
35 |
16-68855966-G-C |
c.1774G>C |
p.Ala592Pro |
Missense |
12/16 |
- |
1 |
16-68855966-G-T |
c.1774G>T |
p.Ala592Ser |
Missense |
12/16 |
- |
12 |
16-68855981-C-T |
c.1789C>T |
p.Pro597Ser |
Missense |
12/16 |
- |
1 |
16-68855984-C-G |
c.1792C>G |
p.Arg598Gly |
Missense |
12/16 |
- |
1 |
16-68855984-C-T |
c.1792C>T |
p.Arg598* |
Nonsense |
12/16 |
- |
15 |
16-68855985-G-A |
c.1793G>A |
p.Arg598Gln |
Missense |
12/16 |
- |
5 |
16-68855987-A-G |
c.1795A>G |
p.Thr599Ala |
Missense |
12/16 |
- |
1 |
16-68855988-C-G |
c.1796C>G |
p.Thr599Ser |
Missense |
12/16 |
- |
3 |
16-68855992-A-G |
c.1800A>G |
p.Ile600Met |
Missense |
12/16 |
- |
1 |
16-68856005-A-G |
c.1813A>G |
p.Arg605Gly |
Missense |
12/16 |
- |
1 |
16-68856020-C-T |
c.1828C>T |
p.Gln610* |
Nonsense |
12/16 |
- |
2 |
16-68856032-A-G |
c.1840A>G |
p.Ile614Val |
Missense |
12/16 |
- |
1 |
16-68856041-G-A |
c.1849G>A |
p.Ala617Thr |
Missense |
12/16 |
- |
26 |
16-68856041-G-T |
c.1849G>T |
p.Ala617Ser |
Missense |
12/16 |
- |
8 |
16-68856068-T-G |
c.1876T>G |
p.Phe626Val |
Missense |
12/16 |
- |
3 |
16-68856079-A-AA |
c.1887dup |
p.Leu630Thrfs*33 |
Frameshift |
12/16 |
- |
1 |
16-68856080-C-G |
c.1888C>G |
p.Leu630Val |
Missense |
12/16 |
- |
14 |
16-68856085-A-AA |
c.1893dup |
p.His632Thrfs*31 |
Frameshift |
12/16 |
- |
1 |
16-68856085-A-C |
c.1893A>C |
p.Thr631Thr |
Synonymous |
12/16 |
- |
1 |
16-68856085-A-T |
c.1893A>T |
p.Thr631Thr |
Synonymous |
12/16 |
- |
1 |
16-68856088-C-G |
c.1896C>G |
p.His632Gln |
Missense |
12/16 |
- |
4 |
16-68856088-C-T |
c.1896C>T |
p.His632His |
Synonymous |
12/16 |
- |
9 |
16-68856093-C-T |
c.1901C>T |
p.Ala634Val |
Missense |
12/16 |
- |
17 |
16-68856105-G-A |
c.1913G>A |
p.Trp638* |
Nonsense |
12/16 |
- |
8 |
16-68856106-G-A |
c.1914G>A |
p.Trp638* |
Nonsense |
12/16 |
- |
6 |
16-68856108-CC-TG |
c.1916_1917delinsTG |
p.Thr639Met |
Missense |
12/16 |
- |
1 |
16-68856113-C-T |
c.1921C>T |
p.Gln641* |
Nonsense |
12/16 |
- |
4 |
16-68856122-G-A |
c.1930G>A |
p.Asp644Asn |
Missense |
12/16 |
- |
1 |
16-68856122-G-C |
c.1930G>C |
p.Asp644His |
Missense |
12/16 |
- |
1 |
16-68856129-G-C |
c.1936+1G>C |
- |
IntronicSNV |
- |
12/15 |
1 |
16-68856951-A-G |
c.1937-351A>G |
- |
IntronicSNV |
- |
12/15 |
1 |
16-68857000-G-A |
c.1937-302G>A |
- |
IntronicSNV |
- |
12/15 |
6 |
16-68857191-C-A |
c.1937-111C>A |
- |
IntronicSNV |
- |
12/15 |
1 |
16-68857277-C-A |
c.1937-25C>A |
- |
IntronicSNV |
- |
12/15 |
1 |
16-68857277-C-G |
c.1937-25C>G |
- |
IntronicSNV |
- |
12/15 |
1 |
16-68857289-T-C |
c.1937-13T>C |
- |
IntronicSNV |
- |
12/15 |
14 |
16-68857304-C-T |
c.1939C>T |
p.Gln647* |
Nonsense |
13/16 |
- |
1 |
16-68857307-G-T |
c.1942G>T |
p.Glu648* |
Nonsense |
13/16 |
- |
3 |
16-68857326-C-T |
c.1961C>T |
p.Pro654Leu |
Missense |
13/16 |
- |
1 |
16-68857329-AA-A |
c.1964del |
p.Lys655Argfs*4 |
Frameshift |
13/16 |
- |
1 |
16-68857330-AG-A |
c.1965del |
p.Met656Trpfs*3 |
Frameshift |
13/16 |
- |
1 |
16-68857331-AT-TG |
c.1966_1967delinsTG |
p.Met656Trp |
Missense |
13/16 |
- |
1 |
16-68857335-C-G |
c.1970C>G |
p.Ala657Gly |
Missense |
13/16 |
- |
1 |
16-68857340-G-A |
c.1975G>A |
p.Glu659Lys |
Missense |
13/16 |
- |
1 |
16-68857340-G-C |
c.1975G>C |
p.Glu659Gln |
Missense |
13/16 |
- |
1 |
16-68857343-G-A |
c.1978G>A |
p.Val660Met |
Missense |
13/16 |
- |
1 |
16-68857351-C-G |
c.1986C>G |
p.Asp662Glu |
Missense |
13/16 |
- |
1 |
16-68857353-A-G |
c.1988A>G |
p.Tyr663Cys |
Missense |
13/16 |
- |
1 |
16-68857354-C-CT |
c.1989_1990insT |
p.Lys664* |
Nonsense |
13/16 |
- |
1 |
16-68857361-A-C |
c.1996A>C |
p.Asn666His |
Missense |
13/16 |
- |
1 |
16-68857371-T-A |
c.2006T>A |
p.Leu669His |
Missense |
13/16 |
- |
1 |
16-68857389-A-G |
c.2024A>G |
p.Lys675Arg |
Missense |
13/16 |
- |
1 |
16-68857393-C-A |
c.2028C>A |
p.Asp676Glu |
Missense |
13/16 |
- |
2 |
16-68857394-C-T |
c.2029C>T |
p.Gln677* |
Nonsense |
13/16 |
- |
3 |
16-68857398-T-C |
c.2033T>C |
p.Val678Ala |
Missense |
13/16 |
- |
1 |
16-68857403-A-G |
c.2038A>G |
p.Thr680Ala |
Missense |
13/16 |
- |
1 |
16-68857417-C-T |
c.2052C>T |
p.Ser684Ser |
Synonymous |
13/16 |
- |
1 |
16-68857421-T-C |
c.2056T>C |
p.Cys686Arg |
Missense |
13/16 |
- |
1 |
16-68857423-GTG-G |
c.2058_2059del |
p.Cys686* |
Frameshift |
13/16 |
- |
1 |
16-68857429-GTG-G |
c.2064_2065del |
p.Cys688* |
Frameshift |
13/16 |
- |
1 |
16-68857436-G-A |
c.2071G>A |
p.Ala691Thr |
Missense |
13/16 |
- |
1 |
16-68857438-C-T |
c.2073C>T |
p.Ala691Ala |
Synonymous |
13/16 |
- |
1 |
16-68857439-G-A |
c.2074G>A |
p.Ala692Thr |
Missense |
13/16 |
- |
1 |
16-68857440-C-T |
c.2075C>T |
p.Ala692Val |
Missense |
13/16 |
- |
1 |
16-68857441-T-A |
c.2076T>A |
p.Ala692Ala |
Synonymous |
13/16 |
- |
9 |
16-68857441-T-C |
c.2076T>C |
p.Ala692Ala |
Synonymous |
13/16 |
- |
38 |
16-68857441-T-G |
c.2076T>G |
p.Ala692Ala |
Synonymous |
13/16 |
- |
9 |
16-68857442-G-A |
c.2077G>A |
p.Gly693Ser |
Missense |
13/16 |
- |
2 |
16-68857445-G-A |
c.2080G>A |
p.Val694Ile |
Missense |
13/16 |
- |
3 |
16-68857448-T-C |
c.2083T>C |
p.Cys695Arg |
Missense |
13/16 |
- |
2 |
16-68857460-C-A |
c.2095C>A |
p.Gln699Lys |
Missense |
13/16 |
- |
1 |
16-68857460-C-G |
c.2095C>G |
p.Gln699Glu |
Missense |
13/16 |
- |
1 |
16-68857460-C-T |
c.2095C>T |
p.Gln699* |
Nonsense |
13/16 |
- |
4 |
16-68857465-CT-C |
c.2100del |
p.Val701Serfs*21 |
Frameshift |
13/16 |
- |
2 |
16-68857469-G-A |
c.2104G>A |
p.Glu702Lys |
Missense |
13/16 |
- |
3 |
16-68857469-G-C |
c.2104G>C |
p.Glu702Gln |
Missense |
13/16 |
- |
1 |
16-68857469-G-T |
c.2104G>T |
p.Glu702* |
Nonsense |
13/16 |
- |
1 |
16-68857479-TG-GT |
c.2114_2115delinsGT |
p.Leu705Cys |
Missense |
13/16 |
- |
1 |
16-68857479-TT-T |
c.2114del |
p.Leu705Cysfs*17 |
Frameshift |
13/16 |
- |
1 |
16-68857481-CA-GC |
c.2116_2117delinsGC |
p.Gln706Ala |
Missense |
13/16 |
- |
1 |
16-68857481-C-T |
c.2116C>T |
p.Gln706* |
Nonsense |
13/16 |
- |
1 |
16-68857496-C-G |
c.2131C>G |
p.Leu711Val |
Missense |
13/16 |
- |
1 |
16-68857500-G-C |
c.2135G>C |
p.Gly712Ala |
Missense |
13/16 |
- |
1 |
16-68857508-G-T |
c.2143G>T |
p.Gly715* |
Nonsense |
13/16 |
- |
1 |
16-68857514-AT-GC |
c.2149_2150delinsGC |
p.Ile717Ala |
Missense |
13/16 |
- |
1 |
16-68857520-TG-T |
c.2155del |
p.Ala719Leufs*3 |
Frameshift |
13/16 |
- |
1 |
16-68857526-C-G |
c.2161C>G |
p.Leu721Val |
Missense |
13/16 |
- |
3 |
16-68857530-G-C |
c.2164+1G>C |
- |
IntronicSNV |
- |
13/15 |
1 |
16-68857531-T-A |
c.2164+2T>A |
- |
IntronicSNV |
- |
13/15 |
2 |
16-68857534-G-C |
c.2164+5G>C |
- |
IntronicSNV |
- |
13/15 |
1 |
16-68857546-A-AA |
c.2164+17dup |
- |
IntronicInsertion |
- |
13/15 |
2 |
16-68857755-CCAGGTTTCTTCTACCTTGTCTCTTTTCATTCTTCAAGACAGTGCATCCCAAGCTTGAGA-C |
c.2164+226_2164+284del |
- |
Unclassified |
- |
13/15 |
1 |
16-68857851-A-T |
c.2164+322A>T |
- |
IntronicSNV |
- |
13/15 |
1 |
16-68860067-T-A |
c.2165-2010T>A |
- |
IntronicSNV |
- |
13/15 |
1 |
16-68860698-A-G |
c.2165-1379A>G |
- |
IntronicSNV |
- |
13/15 |
1 |
16-68861656-T-C |
c.2165-421T>C |
- |
IntronicSNV |
- |
13/15 |
4 |
16-68861864-G-A |
c.2165-213G>A |
- |
IntronicSNV |
- |
13/15 |
2 |
16-68861904-G-A |
c.2165-173G>A |
- |
IntronicSNV |
- |
13/15 |
1 |
16-68862088-C-G |
c.2176C>G |
p.Leu726Val |
Missense |
14/16 |
- |
1 |
16-68862090-G-A |
c.2178G>A |
p.Leu726Leu |
Synonymous |
14/16 |
- |
1 |
16-68862099-G-GG |
c.2187dup |
p.Phe730Valfs*18 |
Frameshift |
14/16 |
- |
1 |
16-68862103-C-T |
c.2191C>T |
p.Leu731Phe |
Missense |
14/16 |
- |
1 |
16-68862107-G-A |
c.2195G>A |
p.Arg732Gln |
Missense |
14/16 |
- |
8 |
16-68862116-C-T |
c.2204C>T |
p.Ala735Val |
Missense |
14/16 |
- |
2 |
16-68862117-G-A |
c.2205G>A |
p.Ala735Ala |
Synonymous |
14/16 |
- |
1 |
16-68862117-G-C |
c.2205G>C |
p.Ala735Ala |
Synonymous |
14/16 |
- |
1 |
16-68862125-A-C |
c.2213A>C |
p.Lys738Thr |
Missense |
14/16 |
- |
1 |
16-68862130-C-G |
c.2218C>G |
p.Pro740Ala |
Missense |
14/16 |
- |
1 |
16-68862130-C-T |
c.2218C>T |
p.Pro740Ser |
Missense |
14/16 |
- |
1 |
16-68862132-CC-C |
c.2220del |
p.Leu741Tyrfs*29 |
Frameshift |
14/16 |
- |
1 |
16-68862138-G-A |
c.2226G>A |
p.Leu742Leu |
Synonymous |
14/16 |
- |
1 |
16-68862144-A-G |
c.2232A>G |
p.Pro744Pro |
Synonymous |
14/16 |
- |
1 |
16-68862145-G-T |
c.2233G>T |
p.Glu745* |
Nonsense |
14/16 |
- |
1 |
16-68862157-C-T |
c.2245C>T |
p.Arg749Trp |
Missense |
14/16 |
- |
7 |
16-68862158-G-A |
c.2246G>A |
p.Arg749Gln |
Missense |
14/16 |
- |
1 |
16-68862158-G-T |
c.2246G>T |
p.Arg749Leu |
Missense |
14/16 |
- |
1 |
16-68862160-G-A |
c.2248G>A |
p.Asp750Asn |
Missense |
14/16 |
- |
1 |
16-68862165-C-A |
c.2253C>A |
p.Asn751Lys |
Missense |
14/16 |
- |
11 |
16-68862165-C-G |
c.2253C>G |
p.Asn751Lys |
Missense |
14/16 |
- |
11 |
16-68862165-C-T |
c.2253C>T |
p.Asn751Asn |
Synonymous |
14/16 |
- |
20 |
16-68862166-G-A |
c.2254G>A |
p.Val752Ile |
Missense |
14/16 |
- |
2 |
16-68862177-T-A |
c.2265T>A |
p.Tyr755* |
Nonsense |
14/16 |
- |
2 |
16-68862178-G-T |
c.2266G>T |
p.Asp756Tyr |
Missense |
14/16 |
- |
1 |
16-68862181-G-A |
c.2269G>A |
p.Glu757Lys |
Missense |
14/16 |
- |
4 |
16-68862187-G-T |
c.2275G>T |
p.Gly759* |
Nonsense |
14/16 |
- |
2 |
16-68862193-G-A |
c.2281G>A |
p.Gly761Arg |
Missense |
14/16 |
- |
1 |
16-68862194-G-A |
c.2282G>A |
p.Gly761Glu |
Missense |
14/16 |
- |
1 |
16-68862196-G-T |
c.2284G>T |
p.Glu762* |
Nonsense |
14/16 |
- |
1 |
16-68862199-G-T |
c.2287G>T |
p.Glu763* |
Nonsense |
14/16 |
- |
4 |
16-68862204-C-T |
c.2292C>T |
p.Asp764Asp |
Synonymous |
14/16 |
- |
1 |
16-68862209-T-G |
c.2295+2T>G |
- |
IntronicSNV |
- |
14/15 |
1 |
16-68862597-T-C |
c.2295+390T>C |
- |
IntronicSNV |
- |
14/15 |
5 |
16-68862647-A-C |
c.2295+440A>C |
- |
IntronicSNV |
- |
14/15 |
2 |
16-68862695-T-A |
c.2295+488T>A |
- |
IntronicSNV |
- |
14/15 |
1 |
16-68862695-T-C |
c.2295+488T>C |
- |
IntronicSNV |
- |
14/15 |
1 |
16-68862915-A-C |
c.2296-642A>C |
- |
IntronicSNV |
- |
14/15 |
2 |
16-68862941-G-A |
c.2296-616G>A |
- |
IntronicSNV |
- |
14/15 |
6 |
16-68862941-G-C |
c.2296-616G>C |
- |
IntronicSNV |
- |
14/15 |
6 |
16-68863314-T-C |
c.2296-243T>C |
- |
IntronicSNV |
- |
14/15 |
3 |
16-68863383-T-A |
c.2296-174T>A |
- |
IntronicSNV |
- |
14/15 |
1 |
16-68863412-C-T |
c.2296-145C>T |
- |
IntronicSNV |
- |
14/15 |
1 |
16-68863557-G-C |
c.2296G>C |
p.Asp766His |
Missense |
15/16 |
- |
1 |
16-68863559-C-T |
c.2298C>T |
p.Asp766Asp |
Synonymous |
15/16 |
- |
1 |
16-68863561-T-C |
c.2300T>C |
p.Phe767Ser |
Missense |
15/16 |
- |
1 |
16-68863568-G-C |
c.2307G>C |
p.Leu769Phe |
Missense |
15/16 |
- |
1 |
16-68863568-G-T |
c.2307G>T |
p.Leu769Phe |
Missense |
15/16 |
- |
1 |
16-68863571-C-T |
c.2310C>T |
p.Ser770Ser |
Synonymous |
15/16 |
- |
1 |
16-68863572-CC-C |
c.2311del |
p.Gln771Serfs*12 |
Frameshift |
15/16 |
- |
1 |
16-68863572-C-T |
c.2311C>T |
p.Gln771* |
Nonsense |
15/16 |
- |
1 |
16-68863576-T-C |
c.2315T>C |
p.Leu772Pro |
Missense |
15/16 |
- |
1 |
16-68863575-C-T |
c.2314C>T |
p.Leu772Leu |
Synonymous |
15/16 |
- |
2 |
16-68863581-AG-CT |
c.2320_2321inv |
p.Arg774Leu |
Missense |
15/16 |
- |
1 |
16-68863587-C-A |
c.2326C>A |
p.Leu776Met |
Missense |
15/16 |
- |
1 |
16-68863590-G-A |
c.2329G>A |
p.Asp777Asn |
Missense |
15/16 |
- |
5 |
16-68863590-GGACGCTCGGCCTG-G |
c.2329_2341del |
p.Asp777Lysfs*2 |
Frameshift |
15/16 |
- |
1 |
16-68863592-C-T |
c.2331C>T |
p.Asp777Asp |
Synonymous |
15/16 |
- |
1 |
16-68863594-GC-G |
c.2333del |
p.Ala778Valfs*5 |
Frameshift |
15/16 |
- |
1 |
16-68863597-G-A |
c.2336G>A |
p.Arg779Gln |
Missense |
15/16 |
- |
2 |
16-68863600-C-T |
c.2339C>T |
p.Pro780Leu |
Missense |
15/16 |
- |
1 |
16-68863604-A-T |
c.2343A>T |
p.Glu781Asp |
Missense |
15/16 |
- |
6 |
16-68863607-G-A |
c.2346G>A |
p.Val782Val |
Synonymous |
15/16 |
- |
1 |
16-68863612-G-A |
c.2351G>A |
p.Arg784His |
Missense |
15/16 |
- |
2 |
16-68863616-C-T |
c.2355C>T |
p.Asn785Asn |
Synonymous |
15/16 |
- |
1 |
16-68863617-G-A |
c.2356G>A |
p.Asp786Asn |
Missense |
15/16 |
- |
1 |
16-68863619-C-T |
c.2358C>T |
p.Asp786Asp |
Synonymous |
15/16 |
- |
1 |
16-68863620-G-A |
c.2359G>A |
p.Val787Ile |
Missense |
15/16 |
- |
2 |
16-68863624-C-T |
c.2363C>T |
p.Ala788Val |
Missense |
15/16 |
- |
1 |
16-68863629-A-G |
c.2368A>G |
p.Thr790Ala |
Missense |
15/16 |
- |
1 |
16-68863630-CC-TG |
c.2369_2370delinsTG |
p.Thr790Met |
Missense |
15/16 |
- |
2 |
16-68863630-C-T |
c.2369C>T |
p.Thr790Ile |
Missense |
15/16 |
- |
2 |
16-68863632-C-T |
c.2371C>T |
p.Leu791Phe |
Missense |
15/16 |
- |
1 |
16-68863641-G-A |
c.2380G>A |
p.Val794Ile |
Missense |
15/16 |
- |
1 |
16-68863647-C-CC |
c.2386dup |
p.Arg796Profs*11 |
Frameshift |
15/16 |
- |
2 |
16-68863648-G-A |
c.2387G>A |
p.Arg796Gln |
Missense |
15/16 |
- |
4 |
16-68863653-C-G |
c.2392C>G |
p.Leu798Val |
Missense |
15/16 |
- |
1 |
16-68863655-T-C |
c.2394T>C |
p.Leu798Leu |
Synonymous |
15/16 |
- |
1 |
16-68863657-C-G |
c.2396C>G |
p.Pro799Arg |
Missense |
15/16 |
- |
6 |
16-68863659-CC-C |
c.2398del |
p.Arg800Alafs*16 |
Frameshift |
15/16 |
- |
7 |
16-68863659-C-T |
c.2398C>T |
p.Arg800Cys |
Missense |
15/16 |
- |
2 |
16-68863660-CG-C |
c.2399del |
p.Arg800Profs*16 |
Frameshift |
15/16 |
- |
2 |
16-68863660-G-C |
c.2399G>C |
p.Arg800Pro |
Missense |
15/16 |
- |
1 |
16-68863661-C-A |
c.2400C>A |
p.Arg800Arg |
Synonymous |
15/16 |
- |
1 |
16-68863661-C-G |
c.2400C>G |
p.Arg800Arg |
Synonymous |
15/16 |
- |
1 |
16-68863661-C-T |
c.2400C>T |
p.Arg800Arg |
Synonymous |
15/16 |
- |
1 |
16-68863668-AA-GC |
c.2407_2408delinsGC |
p.Asn803Ala |
Missense |
15/16 |
- |
1 |
16-68863674-G-A |
c.2413G>A |
p.Asp805Asn |
Missense |
15/16 |
- |
7 |
16-68863677-G-A |
c.2416G>A |
p.Glu806Lys |
Missense |
15/16 |
- |
1 |
16-68863677-G-T |
c.2416G>T |
p.Glu806* |
Nonsense |
15/16 |
- |
1 |
16-68863685-A-AT |
c.2424_2425insT |
p.Asn809* |
Nonsense |
15/16 |
- |
1 |
16-68863687-AAT-A |
c.2426_2427del |
p.Asn809Ilefs*3 |
Frameshift |
15/16 |
- |
3 |
16-68863691-TT-T |
c.2430del |
p.Phe810Leufs*6 |
Frameshift |
15/16 |
- |
3 |
16-68863701-G-C |
c.2439+1G>C |
- |
IntronicSNV |
- |
15/15 |
1 |
16-68863705-AGTAA-A |
c.2439+5_2439+8del |
- |
IntronicDeletion |
- |
15/15 |
2 |
16-68863710-C-T |
c.2439+10C>T |
- |
IntronicSNV |
- |
15/15 |
2 |
16-68863752-G-A |
c.2439+52G>A |
- |
IntronicSNV |
- |
15/15 |
5 |
16-68863756-T-G |
c.2439+56T>G |
- |
IntronicSNV |
- |
15/15 |
1 |
16-68863862-C-T |
c.2439+162C>T |
- |
IntronicSNV |
- |
15/15 |
1 |
16-68863863-T-C |
c.2439+163T>C |
- |
IntronicSNV |
- |
15/15 |
1 |
16-68864430-A-G |
c.2439+730A>G |
- |
IntronicSNV |
- |
15/15 |
1 |
16-68867187-C-G |
c.2440-6C>G |
- |
IntronicSNV |
- |
15/15 |
3 |
16-68867187-C-T |
c.2440-6C>T |
- |
IntronicSNV |
- |
15/15 |
2 |
16-68867191-A-G |
c.2440-2A>G |
- |
IntronicSNV |
- |
15/15 |
1 |
16-68867199-A-T |
c.2446A>T |
p.Lys816* |
Nonsense |
16/16 |
- |
1 |
16-68867203-C-T |
c.2450C>T |
p.Ala817Val |
Missense |
16/16 |
- |
1 |
16-68867204-G-A |
c.2451G>A |
p.Ala817Ala |
Synonymous |
16/16 |
- |
1 |
16-68867206-C-T |
c.2453C>T |
p.Ala818Val |
Missense |
16/16 |
- |
1 |
16-68867218-C-G |
c.2465C>G |
p.Pro822Arg |
Missense |
16/16 |
- |
1 |
16-68867219-CC-C |
c.2466del |
p.Thr823Glnfs*23 |
Frameshift |
16/16 |
- |
1 |
16-68867227-C-CC |
c.2474dup |
p.Pro826Alafs*3 |
Frameshift |
16/16 |
- |
1 |
16-68867227-C-T |
c.2474C>T |
p.Pro825Leu |
Missense |
16/16 |
- |
2 |
16-68867228-G-A |
c.2475G>A |
p.Pro825Pro |
Synonymous |
16/16 |
- |
1 |
16-68867243-G-GG |
c.2490dup |
p.Leu831Alafs*4 |
Frameshift |
16/16 |
- |
1 |
16-68867247-G-A |
c.2494G>A |
p.Val832Met |
Missense |
16/16 |
- |
23 |
16-68867247-G-C |
c.2494G>C |
p.Val832Leu |
Missense |
16/16 |
- |
4 |
16-68867251-T-A |
c.2498T>A |
p.Phe833Tyr |
Missense |
16/16 |
- |
1 |
16-68867254-A-G |
c.2501A>G |
p.Asp834Gly |
Missense |
16/16 |
- |
1 |
16-68867258-T-C |
c.2505T>C |
p.Tyr835Tyr |
Synonymous |
16/16 |
- |
1 |
16-68867259-G-T |
c.2506G>T |
p.Glu836* |
Nonsense |
16/16 |
- |
5 |
16-68867265-A-G |
c.2512A>G |
p.Ser838Gly |
Missense |
16/16 |
- |
8 |
16-68867271-T-A |
c.2518T>A |
p.Ser840Thr |
Missense |
16/16 |
- |
1 |
16-68867273-C-T |
c.2520C>T |
p.Ser840Ser |
Synonymous |
16/16 |
- |
1 |
16-68867274-G-A |
c.2521G>A |
p.Glu841Lys |
Missense |
16/16 |
- |
2 |
16-68867289-A-C |
c.2536A>C |
p.Ser846Arg |
Missense |
16/16 |
- |
1 |
16-68867293-C-T |
c.2540C>T |
p.Ser847Phe |
Missense |
16/16 |
- |
1 |
16-68867302-TCC-T |
c.2549_2550del |
p.Ser850Phefs*10 |
Frameshift |
16/16 |
- |
1 |
16-68867305-C-A |
c.2552C>A |
p.Ser851* |
Nonsense |
16/16 |
- |
1 |
16-68867305-C-G |
c.2552C>G |
p.Ser851* |
Nonsense |
16/16 |
- |
1 |
16-68867309-G-T |
c.2556G>T |
p.Glu852Asp |
Missense |
16/16 |
- |
1 |
16-68867310-T-C |
c.2557T>C |
p.Ser853Pro |
Missense |
16/16 |
- |
1 |
16-68867325-G-C |
c.2572G>C |
p.Asp858His |
Missense |
16/16 |
- |
1 |
16-68867329-A-G |
c.2576A>G |
p.Tyr859Cys |
Missense |
16/16 |
- |
1 |
16-68867331-G-A |
c.2578G>A |
p.Asp860Asn |
Missense |
16/16 |
- |
1 |
16-68867342-C-A |
c.2589C>A |
p.Asn863Lys |
Missense |
16/16 |
- |
1 |
16-68867342-C-T |
c.2589C>T |
p.Asn863Asn |
Synonymous |
16/16 |
- |
1 |
16-68867343-G-A |
c.2590G>A |
p.Glu864Lys |
Missense |
16/16 |
- |
1 |
16-68867347-G-A |
c.2594G>A |
p.Trp865* |
Nonsense |
16/16 |
- |
1 |
16-68867348-G-C |
c.2595G>C |
p.Trp865Cys |
Missense |
16/16 |
- |
2 |
16-68867356-G-A |
c.2603G>A |
p.Arg868His |
Missense |
16/16 |
- |
2 |
16-68867382-G-A |
c.2629G>A |
p.Gly877Arg |
Missense |
16/16 |
- |
2 |
16-68867387-C-A |
c.2634C>A |
p.Gly878Gly |
Synonymous |
16/16 |
- |
7 |
16-68867387-C-G |
c.2634C>G |
p.Gly878Gly |
Synonymous |
16/16 |
- |
7 |
16-68867387-C-T |
c.2634C>T |
p.Gly878Gly |
Synonymous |
16/16 |
- |
8 |
16-68867388-G-A |
c.2635G>A |
p.Gly879Ser |
Missense |
16/16 |
- |
5 |
16-68867388-G-C |
c.2635G>C |
p.Gly879Arg |
Missense |
16/16 |
- |
1 |
16-68867391-G-A |
c.2638G>A |
p.Glu880Lys |
Missense |
16/16 |
- |
4 |
16-68867391-G-C |
c.2638G>C |
p.Glu880Gln |
Missense |
16/16 |
- |
3 |
16-68867396-C-T |
c.2643C>T |
p.Asp881Asp |
Synonymous |
16/16 |
- |
1 |
16-68867397-G-A |
c.2644G>A |
p.Asp882Asn |
Missense |
16/16 |
- |
1 |
16-68867400-T-C |
c.2647T>C |
p.*883Glnext*29 |
Missense |
16/16 |
- |
1 |
16-68867456-C-A |
c.*54C>A |
- |
3-UTRSNV |
16/16 |
- |
16 |
16-68867456-C-G |
c.*54C>G |
- |
3-UTRSNV |
16/16 |
- |
16 |
16-68867456-C-T |
c.*54C>T |
- |
3-UTRSNV |
16/16 |
- |
16 |
16-68867503-G-A |
c.*101G>A |
- |
3-UTRSNV |
16/16 |
- |
1 |
16-68867611-C-T |
c.*209C>T |
- |
3-UTRSNV |
16/16 |
- |
2 |
16-68867991-C-T |
c.*589C>T |
- |
3-UTRSNV |
16/16 |
- |
2 |
16-68868023-C-T |
c.*621C>T |
- |
3-UTRSNV |
16/16 |
- |
1 |
16-68868072-G-A |
c.*670G>A |
- |
3-UTRSNV |
16/16 |
- |
1 |
16-68868148-C-A |
c.*746C>A |
- |
3-UTRSNV |
16/16 |
- |
2 |
16-68868390-G-A |
c.*988G>A |
- |
3-UTRSNV |
16/16 |
- |
1 |
16-68868522-T-A |
c.*1120T>A |
- |
3-UTRSNV |
16/16 |
- |
12 |
16-68868522-T-C |
c.*1120T>C |
- |
3-UTRSNV |
16/16 |
- |
12 |
16-68868522-T-G |
c.*1120T>G |
- |
3-UTRSNV |
16/16 |
- |
12 |
16-68868578-T-C |
c.*1176T>C |
- |
3-UTRSNV |
16/16 |
- |
1 |
16-68868578-T-G |
c.*1176T>G |
- |
3-UTRSNV |
16/16 |
- |
1 |
16-68869064-G-C |
c.*1662G>C |
- |
3-UTRSNV |
16/16 |
- |
1 |
16-68869396-C-A |
c.*1994C>A |
- |
3-UTRSNV |
16/16 |
- |
1 |