Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
17-38468692-C-T | c.-363+3154C>T | - | intron_variant | - | 1/8 | 1 |
17-38470021-A-G | c.-363+4483A>G | - | intron_variant | - | 1/8 | 2 |
17-38470142-G-C | c.-363+4604G>C | - | intron_variant | - | 1/8 | 1 |
17-38474665-C-G | c.-363+9127C>G | - | intron_variant | - | 1/8 | 1 |
17-38479831-C-T | c.-362-7278C>T | - | IntronicSNV | - | 1/8 | 3 |
17-38480657-C-G | c.-362-6452C>G | - | IntronicSNV | - | 1/8 | 2 |
17-38480657-C-T | c.-362-6452C>T | - | IntronicSNV | - | 1/8 | 2 |
17-38487386-C-A | c.-85C>A | - | 5-UTRSNV | 2/9 | - | 5 |
17-38487443-G-A | c.-28G>A | - | 5-UTRSNV | 2/9 | - | 1 |
17-38487443-G-T | c.-28G>T | - | 5-UTRSNV | 2/9 | - | 1 |
17-38487471-A-G | c.1A>G | p.M1? | Missense | 2/9 | - | 1 |
17-38487472-T-A | c.2T>A | p.M1? | Missense | 2/9 | - | 1 |
17-38487478-G-A | c.8G>A | p.S3N | Missense | 2/9 | - | 1 |
17-38487480-A-C | c.10A>C | p.N4H | Missense | 2/9 | - | 1 |
17-38487481-A-G | c.11A>G | p.N4S | Missense | 2/9 | - | 1 |
17-38487481-ACAGCAGCTCCTGCCCGACAC-A | c.13_32del | p.S5Wfs*40 | Frameshift | 2/9 | - | 1 |
17-38487484-G-A | c.14G>A | p.S5N | Missense | 2/9 | - | 2 |
17-38487485-C-G | c.15C>G | p.S5R | Missense | 2/9 | - | 1 |
17-38487489-TC-CT | c.19_20delinsCT | p.S7L | Missense | 2/9 | - | 2 |
17-38487490-C-A | c.20C>A | p.S7Y | Missense | 2/9 | - | 1 |
17-38487490-C-G | c.20C>G | p.S7C | Missense | 2/9 | - | 3 |
17-38487490-C-T | c.20C>T | p.S7F | Missense | 2/9 | - | 1 |
17-38487491-C-A | c.21C>A | p.S7= | Synonymous | 2/9 | - | 1 |
17-38487491-C-G | c.21C>G | p.S7= | Synonymous | 2/9 | - | 1 |
17-38487491-C-T | c.21C>T | p.S7= | Synonymous | 2/9 | - | 1 |
17-38487495-C-T | c.25C>T | p.P9S | Missense | 2/9 | - | 1 |
17-38487496-C-T | c.26C>T | p.P9L | Missense | 2/9 | - | 5 |
17-38487497-G-A | c.27G>A | p.P9= | Synonymous | 2/9 | - | 1 |
17-38487501-C-A | c.31C>A | p.P11T | Missense | 2/9 | - | 2 |
17-38487501-C-T | c.31C>T | p.P11S | Missense | 2/9 | - | 2 |
17-38487502-C-A | c.32C>A | p.P11H | Missense | 2/9 | - | 1 |
17-38487504-G-T | c.34G>T | p.G12W | Missense | 2/9 | - | 3 |
17-38487505-G-A | c.35G>A | p.G12E | Missense | 2/9 | - | 2 |
17-38487505-G-C | c.35G>C | p.G12A | Missense | 2/9 | - | 1 |
17-38487505-GG-AC | c.35_36delinsAC | p.G12D | Missense | 2/9 | - | 3 |
17-38487508-G-A | c.38G>A | p.G13D | Missense | 2/9 | - | 2 |
17-38487508-G-T | c.38G>T | p.G13V | Missense | 2/9 | - | 1 |
17-38487509-C-A | c.39C>A | p.G13= | Synonymous | 2/9 | - | 1 |
17-38487509-C-G | c.39C>G | p.G13= | Synonymous | 2/9 | - | 1 |
17-38487509-C-T | c.39C>T | p.G13= | Synonymous | 2/9 | - | 3 |
17-38487510-G-A | c.40G>A | p.G14R | Missense | 2/9 | - | 2 |
17-38487510-G-C | c.40G>C | p.G14R | Missense | 2/9 | - | 1 |
17-38487510-G-T | c.40G>T | p.G14W | Missense | 2/9 | - | 2 |
17-38487511-G-A | c.41G>A | p.G14E | Missense | 2/9 | - | 1 |
17-38487513-C-A | c.43C>A | p.H15N | Missense | 2/9 | - | 1 |
17-38487514-A-C | c.44A>C | p.H15P | Missense | 2/9 | - | 2 |
17-38487514-A-G | c.44A>G | p.H15R | Missense | 2/9 | - | 1 |
17-38487519-A-C | c.49A>C | p.N17H | Missense | 2/9 | - | 1 |
17-38487523-G-C | c.53G>C | p.G18A | Missense | 2/9 | - | 2 |
17-38487526-A-G | c.56A>G | p.Y19C | Missense | 2/9 | - | 1 |
17-38487528-C-G | c.58C>G | p.P20A | Missense | 2/9 | - | 2 |
17-38487528-C-T | c.58C>T | p.P20S | Missense | 2/9 | - | 4 |
17-38487529-C-A | c.59C>A | p.P20Q | Missense | 2/9 | - | 1 |
17-38487531-G-C | c.61G>C | p.V21L | Missense | 2/9 | - | 1 |
17-38487531-G-T | c.61G>T | p.V21L | Missense | 2/9 | - | 1 |
17-38487532-T-C | c.62T>C | p.V21A | Missense | 2/9 | - | 1 |
17-38487537-C-G | c.67C>G | p.P23A | Missense | 2/9 | - | 1 |
17-38487538-C-T | c.68C>T | p.P23L | Missense | 2/9 | - | 1 |
17-38487539-C-A | c.69C>A | p.P23= | Synonymous | 2/9 | - | 1 |
17-38487539-C-G | c.69C>G | p.P23= | Synonymous | 2/9 | - | 1 |
17-38487539-C-T | c.69C>T | p.P23= | Synonymous | 2/9 | - | 1 |
17-38487540-T-C | c.70T>C | p.Y24H | Missense | 2/9 | - | 1 |
17-38487542-C-A | c.72C>A | p.Y24* | Nonsense | 2/9 | - | 1 |
17-38487543-G-A | c.73G>A | p.A25T | Missense | 2/9 | - | 1 |
17-38487543-GC-AA | c.73_74delinsAA | p.A25N | Missense | 2/9 | - | 1 |
17-38487543-GC-CT | c.73_74delinsCT | p.A25L | Missense | 2/9 | - | 1 |
17-38487544-C-A | c.74C>A | p.A25D | Missense | 2/9 | - | 2 |
17-38487545-C-A | c.75C>A | p.A25= | Synonymous | 2/9 | - | 2 |
17-38487545-C-G | c.75C>G | p.A25= | Synonymous | 2/9 | - | 2 |
17-38487545-C-T | c.75C>T | p.A25= | Synonymous | 2/9 | - | 2 |
17-38487546-T-G | c.76T>G | p.F26V | Missense | 2/9 | - | 1 |
17-38487553-T-C | c.83T>C | p.F28S | Missense | 2/9 | - | 1 |
17-38487554-C-T | c.84C>T | p.F28= | Synonymous | 2/9 | - | 4 |
17-38487555-C-A | c.85C>A | p.P29T | Missense | 2/9 | - | 1 |
17-38487555-C-T | c.85C>T | p.P29S | Missense | 2/9 | - | 8 |
17-38487558-C-A | c.88C>A | p.P30T | Missense | 2/9 | - | 3 |
17-38487558-C-T | c.88C>T | p.P30S | Missense | 2/9 | - | 2 |
17-38487553-TC-T | c.89del | p.P30Lfs*12 | Frameshift | 2/9 | - | 3 |
17-38487559-C-T | c.89C>T | p.P30L | Missense | 2/9 | - | 5 |
17-38487563-G-T | c.93G>T | p.M31I | Missense | 2/9 | - | 1 |
17-38487564-C-T | c.94C>T | p.L32= | Synonymous | 2/9 | - | 1 |
17-38487570-G-A | c.100G>A | p.G34R | Missense | 2/9 | - | 1 |
17-38487570-G-C | c.100G>C | p.G34R | Missense | 2/9 | - | 1 |
17-38487570-GGA-TGT | c.100_102delinsTGT | p.G34C | Missense | 2/9 | - | 1 |
17-38487571-G-C | c.101G>C | p.G34A | Missense | 2/9 | - | 1 |
17-38487577-C-T | c.107C>T | p.S36F | Missense | 2/9 | - | 3 |
17-38487576-TC-T | c.110del | p.P37Rfs*5 | Frameshift | 2/9 | - | 1 |
17-38487580-C-A | c.110C>A | p.P37Q | Missense | 2/9 | - | 2 |
17-38487581-G-A | c.111G>A | p.P37= | Synonymous | 2/9 | - | 1 |
17-38487581-G-C | c.111G>C | p.P37= | Synonymous | 2/9 | - | 1 |
17-38487581-G-T | c.111G>T | p.P37= | Synonymous | 2/9 | - | 1 |
17-38487582-CCA-GAC | c.112_114delinsGAC | p.P38D | Missense | 2/9 | - | 1 |
17-38487582-C-T | c.112C>T | p.P38S | Missense | 2/9 | - | 2 |
17-38487585-G-A | c.115G>A | p.G39S | Missense | 2/9 | - | 1 |
17-38487587-C-A | c.117C>A | p.G39= | Synonymous | 2/9 | - | 1 |
17-38487587-C-G | c.117C>G | p.G39= | Synonymous | 2/9 | - | 1 |
17-38487587-C-T | c.117C>T | p.G39= | Synonymous | 2/9 | - | 3 |
17-38487588-G-A | c.118G>A | p.A40T | Missense | 2/9 | - | 4 |
17-38487588-G-T | c.118G>T | p.A40S | Missense | 2/9 | - | 1 |
17-38487591-C-T | c.121C>T | p.L41= | Synonymous | 2/9 | - | 2 |
17-38487591-CTG-TTT | c.121_123delinsTTT | p.L41F | Missense | 2/9 | - | 1 |
17-38487592-T-A | c.122T>A | p.L41Q | Missense | 2/9 | - | 1 |
17-38487594-A-C | c.124A>C | p.T42P | Missense | 2/9 | - | 2 |
17-38487595-CC-TG | c.125_126delinsTG | p.T42M | Missense | 2/9 | - | 1 |
17-38487595-C-T | c.125C>T | p.T42I | Missense | 2/9 | - | 1 |
17-38487597-A-G | c.127A>G | p.T43A | Missense | 2/9 | - | 2 |
17-38487597-A-T | c.127A>T | p.T43S | Missense | 2/9 | - | 2 |
17-38487598-C-G | c.128C>G | p.T43S | Missense | 2/9 | - | 5 |
17-38487600-CTC-ATG | c.130_132delinsATG | p.L44M | Missense | 2/9 | - | 1 |
17-38487600-CTC-GAG | c.130_132inv | p.L44E | Missense | 2/9 | - | 1 |
17-38487602-C-A | c.132C>A | p.L44= | Synonymous | 2/9 | - | 1 |
17-38487603-C-T | c.133C>T | p.Q45* | Nonsense | 2/9 | - | 3 |
17-38487608-C-A | c.138C>A | p.H46Q | Missense | 2/9 | - | 1 |
17-38487609-C-T | c.139C>T | p.Q47* | Nonsense | 2/9 | - | 2 |
17-38487612-C-A | c.142C>A | p.L48I | Missense | 2/9 | - | 1 |
17-38487615-C-T | c.145C>T | p.P49S | Missense | 2/9 | - | 1 |
17-38487618-G-C | c.148G>C | p.V50L | Missense | 2/9 | - | 2 |
17-38487619-T-G | c.149T>G | p.V50G | Missense | 2/9 | - | 1 |
17-38487622-G-T | c.152G>T | p.S51I | Missense | 2/9 | - | 1 |
17-38487625-GA-AC | c.155_156delinsAC | p.G52D | Missense | 2/9 | - | 1 |
17-38487625-G-C | c.155G>C | p.G52A | Missense | 2/9 | - | 1 |
17-38487625-G-T | c.155G>T | p.G52V | Missense | 2/9 | - | 2 |
17-38487628-A-G | c.158A>G | p.Y53C | Missense | 2/9 | - | 1 |
17-38487631-G-C | c.161G>C | p.S54T | Missense | 2/9 | - | 1 |
17-38487639-T-C | c.169T>C | p.S57P | Missense | 2/9 | - | 1 |
17-38487639-TC-CT | c.169_170delinsCT | p.S57L | Missense | 2/9 | - | 1 |
17-38487640-C-T | c.170C>T | p.S57F | Missense | 2/9 | - | 1 |
17-38487641-C-A | c.171C>A | p.S57= | Synonymous | 2/9 | - | 1 |
17-38487641-C-G | c.171C>G | p.S57= | Synonymous | 2/9 | - | 1 |
17-38487641-C-T | c.171C>T | p.S57= | Synonymous | 2/9 | - | 1 |
17-38487642-C-T | c.172C>T | p.P58S | Missense | 2/9 | - | 1 |
17-38487645-G-A | c.175G>A | p.A59T | Missense | 2/9 | - | 2 |
17-38487645-GCC-AAG | c.175_177delinsAAG | p.A59K | Missense | 2/9 | - | 1 |
17-38487645-GCC-TAA | c.175_177delinsTAA | p.A59* | Nonsense | 2/9 | - | 1 |
17-38487645-G-GC | c.177dup | p.T60Hfs*3 | SpliceDonorInsertion | 2/9 | - | 1 |
17-38487647-C-CG | c.177_178insG | p.T60Dfs*3 | SpliceDonorInsertion | 2/9 | - | 1 |
17-38487647-C-CT | c.177_178insT | p.T60Yfs*3 | SpliceDonorInsertion | 2/9 | - | 1 |
17-38487647-C-CA | c.178dup | p.T60Nfs*3 | SpliceDonorInsertion | - | - | 1 |
17-38487650-GT-G | c.178+2del | - | IntronicDeletion | - | 2/8 | 1 |
17-38487963-G-A | c.178+315G>A | - | IntronicSNV | - | 2/8 | 1 |
17-38488397-T-C | c.178+749T>C | - | IntronicSNV | - | 2/8 | 1 |
17-38488691-C-T | c.178+1043C>T | - | IntronicSNV | - | 2/8 | 1 |
17-38488708-A-G | c.178+1060A>G | - | IntronicSNV | - | 2/8 | 1 |
17-38488715-T-C | c.178+1067T>C | - | IntronicSNV | - | 2/8 | 1 |
17-38488743-C-T | c.178+1095C>T | - | IntronicSNV | - | 2/8 | 1 |
17-38488744-A-G | c.178+1096A>G | - | IntronicSNV | - | 2/8 | 1 |
17-38488755-A-C | c.178+1107A>C | - | IntronicSNV | - | 2/8 | 1 |
17-38488755-A-G | c.178+1107A>G | - | IntronicSNV | - | 2/8 | 1 |
17-38488791-C-A | c.178+1143C>A | - | IntronicSNV | - | 2/8 | 1 |
17-38489170-A-G | c.178+1522A>G | - | IntronicSNV | - | 2/8 | 2 |
17-38490477-A-G | c.178+2829A>G | - | IntronicSNV | - | 2/8 | 1 |
17-38491086-C-T | c.178+3438C>T | - | IntronicSNV | - | 2/8 | 1 |
17-38493261-C-T | c.178+5613C>T | - | IntronicSNV | - | 2/8 | 2 |
17-38493492-G-C | c.178+5844G>C | - | IntronicSNV | - | 2/8 | 1 |
17-38494150-C-T | c.178+6502C>T | - | IntronicSNV | - | 2/8 | 2 |
17-38494581-G-A | c.178+6933G>A | - | IntronicSNV | - | 2/8 | 1 |
17-38494884-C-T | c.178+7236C>T | - | IntronicSNV | - | 2/8 | 1 |
17-38495331-G-A | c.178+7683G>A | - | IntronicSNV | - | 2/8 | 1 |
17-38495337-G-A | c.178+7689G>A | - | IntronicSNV | - | 2/8 | 1 |
17-38495795-C-T | c.178+8147C>T | - | IntronicSNV | - | 2/8 | 1 |
17-38495955-T-A | c.178+8307T>A | - | IntronicSNV | - | 2/8 | 1 |
17-38495955-T-C | c.178+8307T>C | - | IntronicSNV | - | 2/8 | 1 |
17-38496320-G-A | c.179-8248G>A | - | IntronicSNV | - | 2/8 | 6 |
17-38496562-T-G | c.179-8006T>G | - | IntronicSNV | - | 2/8 | 1 |
17-38496752-T-A | c.179-7816T>A | - | IntronicSNV | - | 2/8 | 1 |
17-38497648-T-A | c.179-6920T>A | - | IntronicSNV | - | 2/8 | 1 |
17-38497669-G-A | c.179-6899G>A | - | IntronicSNV | - | 2/8 | 1 |
17-38497750-T-C | c.179-6818T>C | - | IntronicSNV | - | 2/8 | 1 |
17-38497804-G-A | c.179-6764G>A | - | IntronicSNV | - | 2/8 | 1 |
17-38497814-C-T | c.179-6754C>T | - | IntronicSNV | - | 2/8 | 1 |
17-38498363-G-A | c.179-6205G>A | - | IntronicSNV | - | 2/8 | 1 |
17-38498363-G-C | c.179-6205G>C | - | IntronicSNV | - | 2/8 | 1 |
17-38498363-G-T | c.179-6205G>T | - | IntronicSNV | - | 2/8 | 1 |
17-38498404-G-A | c.179-6164G>A | - | IntronicSNV | - | 2/8 | 2 |
17-38498404-G-C | c.179-6164G>C | - | IntronicSNV | - | 2/8 | 2 |
17-38498404-G-T | c.179-6164G>T | - | IntronicSNV | - | 2/8 | 2 |
17-38498975-G-T | c.179-5593G>T | - | IntronicSNV | - | 2/8 | 1 |
17-38499083-C-G | c.179-5485C>G | - | IntronicSNV | - | 2/8 | 1 |
17-38499083-C-T | c.179-5485C>T | - | IntronicSNV | - | 2/8 | 1 |
17-38499098-C-A | c.179-5470C>A | - | IntronicSNV | - | 2/8 | 1 |
17-38499098-C-G | c.179-5470C>G | - | IntronicSNV | - | 2/8 | 1 |
17-38499098-C-T | c.179-5470C>T | - | IntronicSNV | - | 2/8 | 1 |
17-38500914-T-C | c.179-3654T>C | - | IntronicSNV | - | 2/8 | 2 |
17-38500928-G-C | c.179-3640G>C | - | IntronicSNV | - | 2/8 | 4 |
17-38500928-G-T | c.179-3640G>T | - | IntronicSNV | - | 2/8 | 4 |
17-38501576-G-A | c.179-2992G>A | - | IntronicSNV | - | 2/8 | 1 |
17-38504241-A-G | c.179-327A>G | - | IntronicSNV | - | 2/8 | 3 |
17-38504568-C-A | c.179C>A | p.T60N | Missense | 3/9 | - | 1 |
17-38504571-T-C | c.182T>C | p.I61T | Missense | 3/9 | - | 3 |
17-38504582-A-T | c.193A>T | p.S65C | Missense | 3/9 | - | 1 |
17-38504585-AG-GC | c.196_197delinsGC | p.S66A | Missense | 3/9 | - | 1 |
17-38504586-G-C | c.197G>C | p.S66T | Missense | 3/9 | - | 1 |
17-38504588-A-G | c.199A>G | p.S67G | Missense | 3/9 | - | 1 |
17-38504591-TC-CT | c.202_203delinsCT | p.S68L | Missense | 3/9 | - | 2 |
17-38504597-G-A | c.208G>A | p.E70K | Missense | 3/9 | - | 1 |
17-38504601-T-G | c.212T>G | p.I71R | Missense | 3/9 | - | 1 |
17-38504604-T-G | c.215T>G | p.V72G | Missense | 3/9 | - | 1 |
17-38504606-C-G | c.217C>G | p.P73A | Missense | 3/9 | - | 1 |
17-38504606-C-T | c.217C>T | p.P73S | Missense | 3/9 | - | 1 |
17-38504607-C-G | c.218C>G | p.P73R | Missense | 3/9 | - | 1 |
17-38504607-C-T | c.218C>T | p.P73L | Missense | 3/9 | - | 2 |
17-38504608-C-A | c.219C>A | p.P73= | Synonymous | 3/9 | - | 1 |
17-38504608-C-G | c.219C>G | p.P73= | Synonymous | 3/9 | - | 1 |
17-38504608-C-T | c.219C>T | p.P73= | Synonymous | 3/9 | - | 1 |
17-38504609-AG-GC | c.220_221delinsGC | p.S74A | Missense | 3/9 | - | 2 |
17-38504613-C-G | c.224C>G | p.P75R | Missense | 3/9 | - | 1 |
17-38504618-TC-GA | c.229_230inv | p.S77E | Missense | 3/9 | - | 1 |
17-38504618-T-G | c.229T>G | p.S77A | Missense | 3/9 | - | 2 |
17-38504619-C-T | c.230C>T | p.S77L | Missense | 3/9 | - | 3 |
17-38504622-C-T | c.233C>T | p.P78L | Missense | 3/9 | - | 1 |
17-38504623-A-C | c.234A>C | p.P78= | Synonymous | 3/9 | - | 1 |
17-38504623-A-G | c.234A>G | p.P78= | Synonymous | 3/9 | - | 1 |
17-38504623-A-T | c.234A>T | p.P78= | Synonymous | 3/9 | - | 1 |
17-38504625-C-T | c.236C>T | p.P79L | Missense | 3/9 | - | 1 |
17-38504626-C-A | c.237C>A | p.P79= | Synonymous | 3/9 | - | 1 |
17-38504626-C-G | c.237C>G | p.P79= | Synonymous | 3/9 | - | 1 |
17-38504626-C-T | c.237C>T | p.P79= | Synonymous | 3/9 | - | 1 |
17-38504628-C-CT | c.240dup | p.L81Sfs*26 | Frameshift | 3/9 | - | 2 |
17-38504631-T-A | c.242T>A | p.L81Q | Missense | 3/9 | - | 1 |
17-38504633-C-T | c.244C>T | p.P82S | Missense | 3/9 | - | 2 |
17-38504636-C-T | c.247C>T | p.R83C | Missense | 3/9 | - | 2 |
17-38504637-G-A | c.248G>A | p.R83H | Missense | 3/9 | - | 11 |
17-38504639-AT-GC | c.250_251delinsGC | p.I84A | Missense | 3/9 | - | 1 |
17-38504639-A-AT | c.251dup | p.Y85Lfs*22 | Frameshift | 3/9 | - | 1 |
17-38504642-T-TA | c.254dup | p.Y85* | Nonsense | 3/9 | - | 1 |
17-38504647-G-T | c.258G>T | p.K86N | Missense | 3/9 | - | 1 |
17-38504648-C-A | c.259C>A | p.P87T | Missense | 3/9 | - | 1 |
17-38504649-C-G | c.260C>G | p.P87R | Missense | 3/9 | - | 1 |
17-38504651-T-G | c.262T>G | p.C88G | Missense | 3/9 | - | 1 |
17-38504651-TG-GC | c.262_263delinsGC | p.C88A | Missense | 3/9 | - | 1 |
17-38504654-T-G | c.265T>G | p.F89V | Missense | 3/9 | - | 1 |
17-38504656-T-C | c.267T>C | p.F89= | Synonymous | 3/9 | - | 2 |
17-38504657-G-A | c.268G>A | p.V90I | Missense | 3/9 | - | 2 |
17-38504660-T-G | c.271T>G | p.C91G | Missense | 3/9 | - | 1 |
17-38504661-G-A | c.272G>A | p.C91Y | Missense | 3/9 | - | 3 |
17-38504661-G-T | c.272G>T | p.C91F | Missense | 3/9 | - | 1 |
17-38504662-T-C | c.273T>C | p.C91= | Synonymous | 3/9 | - | 1 |
17-38504663-C-G | c.274C>G | p.Q92E | Missense | 3/9 | - | 1 |
17-38504666-G-A | c.277G>A | p.D93N | Missense | 3/9 | - | 1 |
17-38504667-A-G | c.278A>G | p.D93G | Missense | 3/9 | - | 1 |
17-38504670-A-T | c.281A>T | p.K94M | Missense | 3/9 | - | 1 |
17-38504676-C-A | c.287C>A | p.S96* | Nonsense | 3/9 | - | 1 |
17-38504676-C-G | c.287C>G | p.S96* | Nonsense | 3/9 | - | 1 |
17-38504676-C-T | c.287C>T | p.S96L | Missense | 3/9 | - | 2 |
17-38504680-C-A | c.291C>A | p.G97= | Synonymous | 3/9 | - | 1 |
17-38504680-C-G | c.291C>G | p.G97= | Synonymous | 3/9 | - | 1 |
17-38504680-C-T | c.291C>T | p.G97= | Synonymous | 3/9 | - | 1 |
17-38504682-A-AC | c.295dup | p.H99Pfs*8 | Frameshift | 3/9 | - | 1 |
17-38504688-A-G | c.299A>G | p.Y100C | Missense | 3/9 | - | 2 |
17-38504697-G-A | c.308G>A | p.S103N | Missense | 3/9 | - | 2 |
17-38504699-G-A | c.310G>A | p.A104T | Missense | 3/9 | - | 1 |
17-38504700-C-G | c.311C>G | p.A104G | Missense | 3/9 | - | 1 |
17-38504702-T-G | c.313T>G | p.C105G | Missense | 3/9 | - | 1 |
17-38504705-G-T | c.316G>T | p.E106* | Nonsense | 3/9 | - | 1 |
17-38504711-T-A | c.322T>A | p.C108S | Missense | 3/9 | - | 5 |
17-38504712-G-C | c.323G>C | p.C108S | Missense | 3/9 | - | 2 |
17-38504717-G-T | c.327+1G>T | - | IntronicSNV | - | 3/8 | 1 |
17-38504763-G-T | c.327+47G>T | - | IntronicSNV | - | 3/8 | 1 |
17-38504799-TG-T | c.327+89del | - | IntronicDeletion | - | 3/8 | 1 |
17-38506038-C-A | c.330C>A | p.G110= | Synonymous | 4/9 | - | 1 |
17-38506038-C-G | c.330C>G | p.G110= | Synonymous | 4/9 | - | 1 |
17-38506038-C-T | c.330C>T | p.G110= | Synonymous | 4/9 | - | 1 |
17-38506039-T-C | c.331T>C | p.F111L | Missense | 4/9 | - | 1 |
17-38506043-T-G | c.335T>G | p.F112C | Missense | 4/9 | - | 2 |
17-38506045-C-T | c.337C>T | p.R113C | Missense | 4/9 | - | 3 |
17-38506046-G-A | c.338G>A | p.R113H | Missense | 4/9 | - | 4 |
17-38506049-G-A | c.341G>A | p.R114H | Missense | 4/9 | - | 7 |
17-38506051-A-G | c.343A>G | p.S115G | Missense | 4/9 | - | 1 |
17-38506051-AG-GC | c.343_344delinsGC | p.S115A | Missense | 4/9 | - | 1 |
17-38506052-G-A | c.344G>A | p.S115N | Missense | 4/9 | - | 3 |
17-38506051-A-C | c.343A>C | p.S115R | Missense | 4/9 | - | 4 |
17-38506053-C-A | c.345C>A | p.S115R | Missense | 4/9 | - | 4 |
17-38506053-C-G | c.345C>G | p.S115R | Missense | 4/9 | - | 4 |
17-38506056-C-T | c.348C>T | p.I116= | Synonymous | 4/9 | - | 1 |
17-38506057-C-A | c.349C>A | p.Q117K | Missense | 4/9 | - | 1 |
17-38506061-A-G | c.353A>G | p.K118R | Missense | 4/9 | - | 1 |
17-38506062-G-A | c.354G>A | p.K118= | Synonymous | 4/9 | - | 6 |
17-38506065-C-T | c.357C>T | p.N119= | Synonymous | 4/9 | - | 1 |
17-38506073-A-G | c.365A>G | p.Y122C | Missense | 4/9 | - | 1 |
17-38506076-C-T | c.368C>T | p.T123M | Missense | 4/9 | - | 5 |
17-38506078-T-A | c.370T>A | p.C124S | Missense | 4/9 | - | 2 |
17-38506079-G-C | c.371G>C | p.C124S | Missense | 4/9 | - | 2 |
17-38506084-CGG-AGC | c.376_378delinsAGC | p.R126S | Missense | 4/9 | - | 1 |
17-38506084-CG-TA | c.376_377delinsTA | p.R126* | Nonsense | 4/9 | - | 1 |
17-38506085-G-A | c.377G>A | p.R126Q | Missense | 4/9 | - | 3 |
17-38506092-G-C | c.384G>C | p.K128N | Missense | 4/9 | - | 2 |
17-38506092-G-T | c.384G>T | p.K128N | Missense | 4/9 | - | 3 |
17-38506096-T-C | c.388T>C | p.C130R | Missense | 4/9 | - | 1 |
17-38506099-A-C | c.391A>C | p.I131L | Missense | 4/9 | - | 1 |
17-38506100-T-C | c.392T>C | p.I131T | Missense | 4/9 | - | 3 |
17-38506104-C-A | c.396C>A | p.I132= | Synonymous | 4/9 | - | 1 |
17-38506104-C-T | c.396C>T | p.I132= | Synonymous | 4/9 | - | 1 |
17-38506114-A-C | c.406A>C | p.T136P | Missense | 4/9 | - | 1 |
17-38506117-C-G | c.409C>G | p.R137G | Missense | 4/9 | - | 1 |
17-38506118-G-A | c.410G>A | p.R137Q | Missense | 4/9 | - | 1 |
17-38506119-G-A | c.411G>A | p.R137= | Synonymous | 4/9 | - | 1 |
17-38506120-A-G | c.412A>G | p.N138D | Missense | 4/9 | - | 1 |
17-38506123-C-A | c.415C>A | p.R139S | Missense | 4/9 | - | 3 |
17-38506123-C-T | c.415C>T | p.R139C | Missense | 4/9 | - | 1 |
17-38506124-G-A | c.416G>A | p.R139H | Missense | 4/9 | - | 6 |
17-38506124-GC-AA | c.416_417delinsAA | p.R139Q | Missense | 4/9 | - | 1 |
17-38506124-G-T | c.416G>T | p.R139L | Missense | 4/9 | - | 1 |
17-38506126-T-C | c.418T>C | p.C140R | Missense | 4/9 | - | 1 |
17-38506133-A-G | c.425A>G | p.Y142C | Missense | 4/9 | - | 1 |
17-38506138-C-G | c.430C>G | p.R144G | Missense | 4/9 | - | 1 |
17-38506139-G-A | c.431G>A | p.R144Q | Missense | 4/9 | - | 1 |
17-38506139-G-C | c.431G>C | p.R144P | Missense | 4/9 | - | 1 |
17-38506145-A-G | c.437A>G | p.Q146R | Missense | 4/9 | - | 4 |
17-38506167-G-A | c.459G>A | p.M153I | Missense | 4/9 | - | 3 |
17-38506167-G-C | c.459G>C | p.M153I | Missense | 4/9 | - | 2 |
17-38506167-G-T | c.459G>T | p.M153I | Missense | 4/9 | - | 3 |
17-38506174-G-A | c.466G>A | p.E156K | Missense | 4/9 | - | 3 |
17-38506174-G-T | c.466G>T | p.E156* | Nonsense | 4/9 | - | 1 |
17-38506177-T-C | c.469T>C | p.S157P | Missense | 4/9 | - | 4 |
17-38506177-T-G | c.469T>G | p.S157A | Missense | 4/9 | - | 2 |
17-38506295-G-C | c.469+118G>C | - | IntronicSNV | - | 4/8 | 1 |
17-38508104-G-T | c.470-58G>T | - | IntronicSNV | - | 4/8 | 6 |
17-38508162-C-A | c.470C>A | p.S157Y | Missense | 5/9 | - | 4 |
17-38508162-C-G | c.470C>G | p.S157C | Missense | 5/9 | - | 1 |
17-38508168-G-C | c.476G>C | p.R159T | Missense | 5/9 | - | 1 |
17-38508173-G-A | c.481G>A | p.D161N | Missense | 5/9 | - | 3 |
17-38508177-G-A | c.485G>A | p.R162Q | Missense | 5/9 | - | 1 |
17-38508177-G-C | c.485G>C | p.R162P | Missense | 5/9 | - | 1 |
17-38508181-ACAAG-A | c.489_492del | p.N163Kfs*17 | Frameshift | 5/9 | - | 2 |
17-38508183-A-C | c.491A>C | p.K164T | Missense | 5/9 | - | 3 |
17-38508183-A-G | c.491A>G | p.K164R | Missense | 5/9 | - | 2 |
17-38508184-G-C | c.492G>C | p.K164N | Missense | 5/9 | - | 1 |
17-38508187-G-C | c.495G>C | p.K165N | Missense | 5/9 | - | 1 |
17-38508189-A-C | c.497A>C | p.K166T | Missense | 5/9 | - | 1 |
17-38508189-A-G | c.497A>G | p.K166R | Missense | 5/9 | - | 2 |
17-38508181-CAAG-C | c.499_501del | p.K167del | InFrameDeletion | 5/9 | - | 2 |
17-38508191-A-G | c.499A>G | p.K167E | Missense | 5/9 | - | 1 |
17-38508192-AG-TC | c.500_501delinsTC | p.K167I | Missense | 5/9 | - | 1 |
17-38508194-G-A | c.502G>A | p.E168K | Missense | 5/9 | - | 1 |
17-38508198-T-G | c.506T>G | p.V169G | Missense | 5/9 | - | 1 |
17-38508201-C-T | c.509C>T | p.P170L | Missense | 5/9 | - | 1 |
17-38508204-A-G | c.512A>G | p.K171R | Missense | 5/9 | - | 3 |
17-38508206-C-T | c.514C>T | p.P172S | Missense | 5/9 | - | 1 |
17-38508209-G-A | c.517G>A | p.E173K | Missense | 5/9 | - | 1 |
17-38508209-G-C | c.517G>C | p.E173Q | Missense | 5/9 | - | 3 |
17-38508212-T-A | c.520T>A | p.C174S | Missense | 5/9 | - | 1 |
17-38508216-C-T | c.524C>T | p.S175F | Missense | 5/9 | - | 1 |
17-38508217-CTG-C | c.525_526del | p.S177Lfs*12 | Frameshift | 5/9 | - | 1 |
17-38508218-G-A | c.526G>A | p.E176K | Missense | 5/9 | - | 3 |
17-38508218-G-T | c.526G>T | p.E176* | Nonsense | 5/9 | - | 1 |
17-38508222-G-A | c.530G>A | p.S177N | Missense | 5/9 | - | 1 |
17-38508224-T-C | c.532T>C | p.Y178H | Missense | 5/9 | - | 1 |
17-38508228-C-T | c.536C>T | p.T179M | Missense | 5/9 | - | 1 |
17-38508230-C-T | c.538C>T | p.L180= | Synonymous | 5/9 | - | 2 |
17-38508232-G-A | c.540G>A | p.L180= | Synonymous | 5/9 | - | 2 |
17-38508232-G-C | c.540G>C | p.L180= | Synonymous | 5/9 | - | 2 |
17-38508232-G-T | c.540G>T | p.L180= | Synonymous | 5/9 | - | 2 |
17-38508233-A-C | c.541A>C | p.T181P | Missense | 5/9 | - | 1 |
17-38508233-A-G | c.541A>G | p.T181A | Missense | 5/9 | - | 1 |
17-38508234-C-T | c.542C>T | p.T181M | Missense | 5/9 | - | 1 |
17-38508235-G-A | c.543G>A | p.T181= | Synonymous | 5/9 | - | 2 |
17-38508237-C-T | c.545C>T | p.P182L | Missense | 5/9 | - | 2 |
17-38508238-G-A | c.546G>A | p.P182= | Synonymous | 5/9 | - | 2 |
17-38508238-G-C | c.546G>C | p.P182= | Synonymous | 5/9 | - | 2 |
17-38508238-G-T | c.546G>T | p.P182= | Synonymous | 5/9 | - | 2 |
17-38508242-G-T | c.550G>T | p.V184L | Missense | 5/9 | - | 1 |
17-38508246-G-A | c.554G>A | p.G185E | Missense | 5/9 | - | 1 |
17-38508248-G-A | c.556G>A | p.E186K | Missense | 5/9 | - | 3 |
17-38508252-T-G | c.560T>G | p.L187R | Missense | 5/9 | - | 1 |
17-38508253-C-T | c.561C>T | p.L187= | Synonymous | 5/9 | - | 4 |
17-38508261-A-G | c.569A>G | p.K190R | Missense | 5/9 | - | 1 |
17-38508263-G-A | c.571G>A | p.V191M | Missense | 5/9 | - | 1 |
17-38508266-C-T | c.574C>T | p.R192C | Missense | 5/9 | - | 4 |
17-38508267-G-A | c.575G>A | p.R192H | Missense | 5/9 | - | 8 |
17-38508267-GC-AA | c.575_576delinsAA | p.R192Q | Missense | 5/9 | - | 3 |
17-38508269-A-G | c.577A>G | p.K193E | Missense | 5/9 | - | 1 |
17-38508269-A-T | c.577A>T | p.K193* | Nonsense | 5/9 | - | 1 |
17-38508270-A-G | c.578A>G | p.K193R | Missense | 5/9 | - | 1 |
17-38508270-A-T | c.578A>T | p.K193I | Missense | 5/9 | - | 1 |
17-38508271-A-T | c.579A>T | p.K193N | Missense | 5/9 | - | 1 |
17-38508272-G-A | c.580G>A | p.A194T | Missense | 5/9 | - | 1 |
17-38508273-C-T | c.581C>T | p.A194V | Missense | 5/9 | - | 1 |
17-38508276-A-G | c.584A>G | p.H195R | Missense | 5/9 | - | 1 |
17-38508276-A-AC | c.586dup | p.Q196Pfs*28 | Frameshift | 5/9 | - | 3 |
17-38508275-CACCAGGAA-C | c.587_594del | p.Q196Lfs*25 | Frameshift | 5/9 | - | 1 |
17-38508285-C-T | c.593C>T | p.T198I | Missense | 5/9 | - | 3 |
17-38508290-C-A | c.598C>A | p.P200T | Missense | 5/9 | - | 1 |
17-38508290-C-T | c.598C>T | p.P200S | Missense | 5/9 | - | 1 |
17-38508291-C-T | c.599C>T | p.P200L | Missense | 5/9 | - | 1 |
17-38508292-T-A | c.600T>A | p.P200= | Synonymous | 5/9 | - | 1 |
17-38508292-T-C | c.600T>C | p.P200= | Synonymous | 5/9 | - | 1 |
17-38508292-T-G | c.600T>G | p.P200= | Synonymous | 5/9 | - | 1 |
17-38508294-C-T | c.602C>T | p.A201V | Missense | 5/9 | - | 3 |
17-38508295-C-T | c.603C>T | p.A201= | Synonymous | 5/9 | - | 1 |
17-38508296-C-A | c.604C>A | p.L202I | Missense | 5/9 | - | 1 |
17-38508299-T-G | c.607T>G | p.C203G | Missense | 5/9 | - | 1 |
17-38508301-C-A | c.609C>A | p.C203* | Nonsense | 5/9 | - | 1 |
17-38508302-C-A | c.610C>A | p.Q204K | Missense | 5/9 | - | 3 |
17-38508306-T-C | c.614T>C | p.L205P | Missense | 5/9 | - | 1 |
17-38508308-G-A | c.616G>A | p.G206S | Missense | 5/9 | - | 1 |
17-38508308-G-T | c.616G>T | p.G206C | Missense | 5/9 | - | 1 |
17-38508309-G-C | c.617G>C | p.G206A | Missense | 5/9 | - | 1 |
17-38508309-G-T | c.617G>T | p.G206V | Missense | 5/9 | - | 1 |
17-38508314-ATAC-A | c.622_624del | p.Y208del | InFrameDeletion | 5/9 | - | 1 |
17-38508314-T-A | c.622T>A | p.Y208N | Missense | 5/9 | - | 2 |
17-38508314-T-C | c.622T>C | p.Y208H | Missense | 5/9 | - | 2 |
17-38508318-C-T | c.626C>T | p.T209I | Missense | 5/9 | - | 2 |
17-38508320-A-G | c.628A>G | p.T210A | Missense | 5/9 | - | 4 |
17-38508322-G-A | c.630G>A | p.T210= | Synonymous | 5/9 | - | 1 |
17-38508322-G-C | c.630G>C | p.T210= | Synonymous | 5/9 | - | 1 |
17-38508322-G-T | c.630G>T | p.T210= | Synonymous | 5/9 | - | 1 |
17-38508323-G-C | c.630+1G>C | - | IntronicSNV | - | 5/8 | 1 |
17-38508508-G-A | c.631-75G>A | - | IntronicSNV | - | 5/8 | 1 |
17-38508591-C-G | c.639C>G | p.S213R | Missense | 6/9 | - | 2 |
17-38508593-CA-TT | c.641_642delinsTT | p.S214F | Missense | 6/9 | - | 2 |
17-38508593-C-T | c.641C>T | p.S214L | Missense | 6/9 | - | 9 |
17-38508596-A-G | c.644A>G | p.E215G | Missense | 6/9 | - | 4 |
17-38508598-C-T | c.646C>T | p.Q216* | Nonsense | 6/9 | - | 1 |
17-38508600-A-C | c.648A>C | p.Q216H | Missense | 6/9 | - | 1 |
17-38508600-A-T | c.648A>T | p.Q216H | Missense | 6/9 | - | 1 |
17-38508601-C-A | c.649C>A | p.R217S | Missense | 6/9 | - | 4 |
17-38508601-C-G | c.649C>G | p.R217G | Missense | 6/9 | - | 2 |
17-38508601-C-T | c.649C>T | p.R217C | Missense | 6/9 | - | 3 |
17-38508602-G-A | c.650G>A | p.R217H | Missense | 6/9 | - | 6 |
17-38508602-G-C | c.650G>C | p.R217P | Missense | 6/9 | - | 6 |
17-38508602-G-T | c.650G>T | p.R217L | Missense | 6/9 | - | 1 |
17-38508604-G-A | c.652G>A | p.V218I | Missense | 6/9 | - | 1 |
17-38508607-CTCT-C | c.655_657del | p.S219del | InFrameDeletion | 6/9 | - | 1 |
17-38508607-TCT-GAG | c.655_657delinsGAG | p.S219E | Missense | 6/9 | - | 1 |
17-38508607-T-G | c.655T>G | p.S219A | Missense | 6/9 | - | 1 |
17-38508608-C-A | c.656C>A | p.S219Y | Missense | 6/9 | - | 3 |
17-38508609-T-A | c.657T>A | p.S219= | Synonymous | 6/9 | - | 1 |
17-38508610-C-G | c.658C>G | p.L220V | Missense | 6/9 | - | 2 |
17-38508611-T-C | c.659T>C | p.L220P | Missense | 6/9 | - | 2 |
17-38508614-A-G | c.662A>G | p.D221G | Missense | 6/9 | - | 2 |
17-38508619-G-A | c.667G>A | p.D223N | Missense | 6/9 | - | 1 |
17-38508622-C-A | c.670C>A | p.L224I | Missense | 6/9 | - | 1 |
17-38508622-C-G | c.670C>G | p.L224V | Missense | 6/9 | - | 1 |
17-38508622-C-T | c.670C>T | p.L224F | Missense | 6/9 | - | 2 |
17-38508623-T-C | c.671T>C | p.L224P | Missense | 6/9 | - | 1 |
17-38508625-T-A | c.673T>A | p.W225R | Missense | 6/9 | - | 2 |
17-38508625-T-C | c.673T>C | p.W225R | Missense | 6/9 | - | 1 |
17-38508627-G-C | c.675G>C | p.W225C | Missense | 6/9 | - | 1 |
17-38508627-G-T | c.675G>T | p.W225C | Missense | 6/9 | - | 1 |
17-38508628-G-A | c.676G>A | p.D226N | Missense | 6/9 | - | 1 |
17-38508633-G-A | c.681G>A | p.K227= | Synonymous | 6/9 | - | 1 |
17-38508634-TT-AA | c.682_683inv | p.F228N | Missense | 6/9 | - | 2 |
17-38508629-ACAAGTTCAGTGAACTCTCCAC-A | c.683_703del | p.F228_K234del | InFrameDeletion | 6/9 | - | 1 |
17-38508638-G-A | c.686G>A | p.S229N | Missense | 6/9 | - | 1 |
17-38508637-A-C | c.685A>C | p.S229R | Missense | 6/9 | - | 1 |
17-38508639-T-A | c.687T>A | p.S229R | Missense | 6/9 | - | 2 |
17-38508639-T-G | c.687T>G | p.S229R | Missense | 6/9 | - | 2 |
17-38508643-C-G | c.691C>G | p.L231V | Missense | 6/9 | - | 2 |
17-38508647-C-A | c.695C>A | p.S232Y | Missense | 6/9 | - | 2 |
17-38508647-C-T | c.695C>T | p.S232F | Missense | 6/9 | - | 1 |
17-38508646-TCCA-T | c.698_700del | p.T233del | InFrameDeletion | 6/9 | - | 1 |
17-38508650-CC-TG | c.698_699delinsTG | p.T233M | Missense | 6/9 | - | 1 |
17-38508650-C-T | c.698C>T | p.T233I | Missense | 6/9 | - | 1 |
17-38508652-A-G | c.700A>G | p.K234E | Missense | 6/9 | - | 2 |
17-38508653-AAGT-A | c.701_703del | p.K234_C235delinsS | MultiAAMissense | 6/9 | - | 1 |
17-38508656-G-A | c.704G>A | p.C235Y | Missense | 6/9 | - | 2 |
17-38508656-G-T | c.704G>T | p.C235F | Missense | 6/9 | - | 1 |
17-38508657-C-G | c.705C>G | p.C235W | Missense | 6/9 | - | 1 |
17-38508658-A-G | c.706A>G | p.I236V | Missense | 6/9 | - | 1 |
17-38508659-T-G | c.707T>G | p.I236S | Missense | 6/9 | - | 1 |
17-38508664-A-G | c.712A>G | p.K238E | Missense | 6/9 | - | 1 |
17-38508666-G-T | c.714G>T | p.K238N | Missense | 6/9 | - | 1 |
17-38508674-A-C | c.722A>C | p.E241A | Missense | 6/9 | - | 1 |
17-38508675-G-A | c.723G>A | p.E241= | Synonymous | 6/9 | - | 1 |
17-38508676-T-G | c.724T>G | p.F242V | Missense | 6/9 | - | 1 |
17-38508678-C-T | c.726C>T | p.F242= | Synonymous | 6/9 | - | 2 |
17-38508679-G-A | c.727G>A | p.A243T | Missense | 6/9 | - | 1 |
17-38508680-C-T | c.728C>T | p.A243V | Missense | 6/9 | - | 1 |
17-38508683-AG-TC | c.731_732delinsTC | p.K244I | Missense | 6/9 | - | 2 |
17-38508683-A-T | c.731A>T | p.K244M | Missense | 6/9 | - | 2 |
17-38508684-G-A | c.732G>A | p.K244= | Synonymous | 6/9 | - | 1 |
17-38508688-C-T | c.736C>T | p.L246= | Synonymous | 6/9 | - | 1 |
17-38508690-G-T | c.738G>T | p.L246= | Synonymous | 6/9 | - | 1 |
17-38508691-C-A | c.739C>A | p.P247T | Missense | 6/9 | - | 1 |
17-38508691-C-T | c.739C>T | p.P247S | Missense | 6/9 | - | 1 |
17-38508692-C-T | c.740C>T | p.P247L | Missense | 6/9 | - | 4 |
17-38508695-G-A | c.743G>A | p.G248D | Missense | 6/9 | - | 5 |
17-38508697-T-C | c.745T>C | p.F249L | Missense | 6/9 | - | 1 |
17-38508699-C-A | c.747C>A | p.F249L | Missense | 6/9 | - | 1 |
17-38508699-C-G | c.747C>G | p.F249L | Missense | 6/9 | - | 1 |
17-38508698-T-G | c.746T>G | p.F249C | Missense | 6/9 | - | 1 |
17-38508700-A-G | c.748A>G | p.T250A | Missense | 6/9 | - | 2 |
17-38508701-C-T | c.749C>T | p.T250I | Missense | 6/9 | - | 5 |
17-38508702-C-T | c.750C>T | p.T250= | Synonymous | 6/9 | - | 1 |
17-38508709-A-G | c.757A>G | p.T253A | Missense | 6/9 | - | 1 |
17-38508710-C-T | c.758C>T | p.T253I | Missense | 6/9 | - | 1 |
17-38508711-C-T | c.759C>T | p.T253= | Synonymous | 6/9 | - | 1 |
17-38508712-A-C | c.760A>C | p.I254L | Missense | 6/9 | - | 1 |
17-38508712-A-T | c.760A>T | p.I254F | Missense | 6/9 | - | 1 |
17-38508713-T-A | c.761T>A | p.I254N | Missense | 6/9 | - | 1 |
17-38508715-G-A | c.763G>A | p.A255T | Missense | 6/9 | - | 2 |
17-38508716-C-A | c.764C>A | p.A255D | Missense | 6/9 | - | 2 |
17-38508718-G-A | c.766G>A | p.D256N | Missense | 6/9 | - | 9 |
17-38508718-G-T | c.766G>T | p.D256Y | Missense | 6/9 | - | 4 |
17-38508719-A-C | c.767A>C | p.D256A | Missense | 6/9 | - | 1 |
17-38508719-A-G | c.767A>G | p.D256G | Missense | 6/9 | - | 2 |
17-38508725-T-TA | c.773_774insA | p.T259Hfs*65 | Frameshift | 6/9 | - | 1 |
17-38508725-T-TC | c.774dup | p.T259Hfs*65 | Frameshift | 6/9 | - | 2 |
17-38508726-C-A | c.774C>A | p.I258= | Synonymous | 6/9 | - | 4 |
17-38508726-C-T | c.774C>T | p.I258= | Synonymous | 6/9 | - | 5 |
17-38508727-A-C | c.775A>C | p.T259P | Missense | 6/9 | - | 1 |
17-38508727-ACCCT-A | c.778_781del | p.L260Sfs*9 | Frameshift | 6/9 | - | 1 |
17-38508732-C-T | c.780C>T | p.L260= | Synonymous | 6/9 | - | 4 |
17-38508735-C-T | c.783C>T | p.L261= | Synonymous | 6/9 | - | 2 |
17-38508736-AA-GC | c.784_785delinsGC | p.K262A | Missense | 6/9 | - | 1 |
17-38508740-C-A | c.788C>A | p.A263D | Missense | 6/9 | - | 1 |
17-38508742-G-A | c.790G>A | p.A264T | Missense | 6/9 | - | 2 |
17-38508743-C-T | c.791C>T | p.A264V | Missense | 6/9 | - | 2 |
17-38508745-T-C | c.793T>C | p.C265R | Missense | 6/9 | - | 2 |
17-38508751-G-T | c.799G>T | p.D267Y | Missense | 6/9 | - | 2 |
17-38508756-C-T | c.804C>T | p.I268= | Synonymous | 6/9 | - | 1 |
17-38508757-C-A | c.805C>A | p.L269M | Missense | 6/9 | - | 1 |
17-38508801-C-A | c.807+42C>A | - | IntronicSNV | - | 6/8 | 1 |
17-38510555-T-A | c.809T>A | p.I270N | Missense | 7/9 | - | 1 |
17-38510557-C-T | c.811C>T | p.L271= | Synonymous | 7/9 | - | 1 |
17-38510560-C-G | c.814C>G | p.R272G | Missense | 7/9 | - | 2 |
17-38510560-C-T | c.814C>T | p.R272W | Missense | 7/9 | - | 8 |
17-38510561-G-A | c.815G>A | p.R272Q | Missense | 7/9 | - | 8 |
17-38510563-A-C | c.817A>C | p.I273L | Missense | 7/9 | - | 1 |
17-38510563-A-T | c.817A>T | p.I273F | Missense | 7/9 | - | 3 |
17-38510568-C-T | c.822C>T | p.C274= | Synonymous | 7/9 | - | 1 |
17-38510569-A-C | c.823A>C | p.T275P | Missense | 7/9 | - | 1 |
17-38510570-C-A | c.824C>A | p.T275K | Missense | 7/9 | - | 1 |
17-38510570-C-T | c.824C>T | p.T275M | Missense | 7/9 | - | 3 |
17-38510572-CG-AC | c.826_827delinsAC | p.R276T | Missense | 7/9 | - | 1 |
17-38510572-C-T | c.826C>T | p.R276W | Missense | 7/9 | - | 9 |
17-38510573-G-A | c.827G>A | p.R276Q | Missense | 7/9 | - | 4 |
17-38510573-G-T | c.827G>T | p.R276L | Missense | 7/9 | - | 2 |
17-38510575-T-C | c.829T>C | p.Y277H | Missense | 7/9 | - | 1 |
17-38510576-A-G | c.830A>G | p.Y277C | Missense | 7/9 | - | 2 |
17-38510578-A-C | c.832A>C | p.T278P | Missense | 7/9 | - | 1 |
17-38510579-C-T | c.833C>T | p.T278M | Missense | 7/9 | - | 4 |
17-38510581-C-A | c.835C>A | p.P279T | Missense | 7/9 | - | 2 |
17-38510581-C-T | c.835C>T | p.P279S | Missense | 7/9 | - | 1 |
17-38510583-C-A | c.837C>A | p.P279= | Synonymous | 7/9 | - | 2 |
17-38510583-C-T | c.837C>T | p.P279= | Synonymous | 7/9 | - | 2 |
17-38510584-G-A | c.838G>A | p.E280K | Missense | 7/9 | - | 5 |
17-38510588-A-G | c.842A>G | p.Q281R | Missense | 7/9 | - | 1 |
17-38510589-G-T | c.843G>T | p.Q281H | Missense | 7/9 | - | 1 |
17-38510590-G-C | c.844G>C | p.D282H | Missense | 7/9 | - | 3 |
17-38510594-C-A | c.848C>A | p.T283N | Missense | 7/9 | - | 1 |
17-38510594-C-T | c.848C>T | p.T283I | Missense | 7/9 | - | 3 |
17-38510595-C-A | c.849C>A | p.T283= | Synonymous | 7/9 | - | 1 |
17-38510595-C-G | c.849C>G | p.T283= | Synonymous | 7/9 | - | 1 |
17-38510595-C-T | c.849C>T | p.T283= | Synonymous | 7/9 | - | 1 |
17-38510596-A-C | c.850A>C | p.M284L | Missense | 7/9 | - | 2 |
17-38510596-A-G | c.850A>G | p.M284V | Missense | 7/9 | - | 4 |
17-38510596-A-T | c.850A>T | p.M284L | Missense | 7/9 | - | 2 |
17-38510598-G-A | c.852G>A | p.M284I | Missense | 7/9 | - | 6 |
17-38510598-G-C | c.852G>C | p.M284I | Missense | 7/9 | - | 4 |
17-38510598-G-T | c.852G>T | p.M284I | Missense | 7/9 | - | 5 |
17-38510599-A-C | c.853A>C | p.T285P | Missense | 7/9 | - | 1 |
17-38510599-A-G | c.853A>G | p.T285A | Missense | 7/9 | - | 2 |
17-38510600-C-A | c.854C>A | p.T285N | Missense | 7/9 | - | 1 |
17-38510600-CC-TG | c.854_855delinsTG | p.T285M | Missense | 7/9 | - | 1 |
17-38510600-C-T | c.854C>T | p.T285I | Missense | 7/9 | - | 2 |
17-38510602-T-A | c.856T>A | p.F286I | Missense | 7/9 | - | 3 |
17-38510602-T-C | c.856T>C | p.F286L | Missense | 7/9 | - | 1 |
17-38510602-T-G | c.856T>G | p.F286V | Missense | 7/9 | - | 1 |
17-38510602-TT-AC | c.856_857delinsAC | p.F286T | Missense | 7/9 | - | 2 |
17-38510600-CCTT-C | c.857_859del | p.F286del | InFrameDeletion | 7/9 | - | 1 |
17-38510603-T-C | c.857T>C | p.F286S | Missense | 7/9 | - | 12 |
17-38510603-T-G | c.857T>G | p.F286C | Missense | 7/9 | - | 2 |
17-38510604-C-T | c.858C>T | p.F286= | Synonymous | 7/9 | - | 1 |
17-38510606-C-G | c.860C>G | p.S287W | Missense | 7/9 | - | 1 |
17-38510606-C-T | c.860C>T | p.S287L | Missense | 7/9 | - | 14 |
17-38510607-G-A | c.861G>A | p.S287= | Synonymous | 7/9 | - | 1 |
17-38510608-G-A | c.862G>A | p.D288N | Missense | 7/9 | - | 1 |
17-38510609-A-G | c.863A>G | p.D288G | Missense | 7/9 | - | 1 |
17-38510611-G-A | c.865G>A | p.G289R | Missense | 7/9 | - | 6 |
17-38510611-G-C | c.865G>C | p.G289R | Missense | 7/9 | - | 6 |
17-38510612-G-A | c.866G>A | p.G289E | Missense | 7/9 | - | 2 |
17-38510612-G-C | c.866G>C | p.G289A | Missense | 7/9 | - | 2 |
17-38510612-G-T | c.866G>T | p.G289V | Missense | 7/9 | - | 2 |
17-38510610-C-CG | c.867dup | p.L290Afs*34 | Frameshift | 7/9 | - | 1 |
17-38510614-C-G | c.868C>G | p.L290V | Missense | 7/9 | - | 3 |
17-38510615-T-A | c.869T>A | p.L290Q | Missense | 7/9 | - | 1 |
17-38510615-T-C | c.869T>C | p.L290P | Missense | 7/9 | - | 1 |
17-38510617-A-G | c.871A>G | p.T291A | Missense | 7/9 | - | 1 |
17-38510618-C-T | c.872C>T | p.T291I | Missense | 7/9 | - | 1 |
17-38510619-C-A | c.873C>A | p.T291= | Synonymous | 7/9 | - | 1 |
17-38510619-C-G | c.873C>G | p.T291= | Synonymous | 7/9 | - | 1 |
17-38510619-C-T | c.873C>T | p.T291= | Synonymous | 7/9 | - | 1 |
17-38510620-C-G | c.874C>G | p.L292V | Missense | 7/9 | - | 2 |
17-38510626-CG-TA | c.880_881delinsTA | p.R294* | Nonsense | 7/9 | - | 1 |
17-38510626-C-T | c.880C>T | p.R294W | Missense | 7/9 | - | 11 |
17-38510627-G-A | c.881G>A | p.R294Q | Missense | 7/9 | - | 3 |
17-38510627-GG-AT | c.881_882delinsAT | p.R294H | Missense | 7/9 | - | 1 |
17-38510627-G-T | c.881G>T | p.R294L | Missense | 7/9 | - | 1 |
17-38510629-A-G | c.883A>G | p.T295A | Missense | 7/9 | - | 1 |
17-38510632-C-G | c.886C>G | p.Q296E | Missense | 7/9 | - | 5 |
17-38510633-A-G | c.887A>G | p.Q296R | Missense | 7/9 | - | 1 |
17-38510639-A-T | c.893A>T | p.H298L | Missense | 7/9 | - | 1 |
17-38510640-C-CT | c.894_895insT | p.N299* | Nonsense | 7/9 | - | 1 |
17-38510641-A-C | c.895A>C | p.N299H | Missense | 7/9 | - | 1 |
17-38510641-A-T | c.895A>T | p.N299Y | Missense | 7/9 | - | 1 |
17-38510642-A-G | c.896A>G | p.N299S | Missense | 7/9 | - | 8 |
17-38510643-C-T | c.897C>T | p.N299= | Synonymous | 7/9 | - | 1 |
17-38510645-C-A | c.899C>A | p.A300D | Missense | 7/9 | - | 1 |
17-38510648-G-A | c.902G>A | p.G301D | Missense | 7/9 | - | 1 |
17-38510648-G-T | c.902G>T | p.G301V | Missense | 7/9 | - | 4 |
17-38510649-GCT-G | c.903_904del | p.F302Rfs*21 | Frameshift | 7/9 | - | 1 |
17-38510650-T-A | c.904T>A | p.F302I | Missense | 7/9 | - | 1 |
17-38510650-T-C | c.904T>C | p.F302L | Missense | 7/9 | - | 1 |
17-38510650-TT-AC | c.904_905delinsAC | p.F302T | Missense | 7/9 | - | 1 |
17-38510652-C-A | c.906C>A | p.F302L | Missense | 7/9 | - | 1 |
17-38510652-C-G | c.906C>G | p.F302L | Missense | 7/9 | - | 1 |
17-38510651-T-C | c.905T>C | p.F302S | Missense | 7/9 | - | 3 |
17-38510651-T-G | c.905T>G | p.F302C | Missense | 7/9 | - | 1 |
17-38510653-G-A | c.907G>A | p.G303S | Missense | 7/9 | - | 8 |
17-38510654-G-C | c.908G>C | p.G303A | Missense | 7/9 | - | 2 |
17-38510654-GC-AG | c.908_909delinsAG | p.G303E | Missense | 7/9 | - | 3 |
17-38510654-G-T | c.908G>T | p.G303V | Missense | 7/9 | - | 2 |
17-38510655-C-A | c.909C>A | p.G303= | Synonymous | 7/9 | - | 1 |
17-38510655-C-G | c.909C>G | p.G303= | Synonymous | 7/9 | - | 1 |
17-38510655-C-T | c.909C>T | p.G303= | Synonymous | 7/9 | - | 1 |
17-38510658-C-T | c.912C>T | p.P304= | Synonymous | 7/9 | - | 2 |
17-38510662-AC-GA | c.916_917delinsGA | p.T306D | Missense | 7/9 | - | 1 |
17-38510663-C-T | c.917C>T | p.T306I | Missense | 7/9 | - | 1 |
17-38510671-G-A | c.925G>A | p.V309I | Missense | 7/9 | - | 1 |
17-38510672-T-G | c.926T>G | p.V309G | Missense | 7/9 | - | 2 |
17-38510673-C-A | c.927C>A | p.V309= | Synonymous | 7/9 | - | 1 |
17-38510673-C-G | c.927C>G | p.V309= | Synonymous | 7/9 | - | 1 |
17-38510673-C-T | c.927C>T | p.V309= | Synonymous | 7/9 | - | 2 |
17-38510675-T-C | c.929T>C | p.F310S | Missense | 7/9 | - | 2 |
17-38510676-T-A | c.930T>A | p.F310L | Missense | 7/9 | - | 1 |
17-38510678-C-T | c.932C>T | p.A311V | Missense | 7/9 | - | 1 |
17-38510682-C-T | c.936C>T | p.F312= | Synonymous | 7/9 | - | 1 |
17-38510683-G-A | c.937G>A | p.A313T | Missense | 7/9 | - | 1 |
17-38510684-C-G | c.938C>G | p.A313G | Missense | 7/9 | - | 2 |
17-38510684-C-T | c.938C>T | p.A313V | Missense | 7/9 | - | 3 |
17-38510686-A-C | c.940A>C | p.N314H | Missense | 7/9 | - | 1 |
17-38510690-A-G | c.944A>G | p.Q315R | Missense | 7/9 | - | 1 |
17-38510698-C-T | c.952C>T | p.P318S | Missense | 7/9 | - | 6 |
17-38510699-C-A | c.953C>A | p.P318H | Missense | 7/9 | - | 2 |
17-38510699-C-G | c.953C>G | p.P318R | Missense | 7/9 | - | 4 |
17-38510699-C-T | c.953C>T | p.P318L | Missense | 7/9 | - | 1 |
17-38510702-T-C | c.956T>C | p.L319P | Missense | 7/9 | - | 1 |
17-38510705-A-ATGCG | c.959_960insTGCG | p.E320Dfs*5 | Frameshift | 7/9 | - | 1 |
17-38510708-T-C | c.962T>C | p.M321T | Missense | 7/9 | - | 1 |
17-38510710-G-A | c.964G>A | p.D322N | Missense | 7/9 | - | 3 |
17-38510712-T-A | c.966T>A | p.D322E | Missense | 7/9 | - | 1 |
17-38510713-G-A | c.967G>A | p.D323N | Missense | 7/9 | - | 2 |
17-38510713-G-AACT | c.967delinsAACT | p.D323delinsNY | MultiAAMissense | 7/9 | - | 1 |
17-38510713-G-C | c.967G>C | p.D323H | Missense | 7/9 | - | 1 |
17-38510713-G-T | c.967G>T | p.D323Y | Missense | 7/9 | - | 1 |
17-38510715-T-A | c.969T>A | p.D323E | Missense | 7/9 | - | 1 |
17-38510715-T-C | c.969T>C | p.D323= | Synonymous | 7/9 | - | 1 |
17-38510715-T-G | c.969T>G | p.D323E | Missense | 7/9 | - | 1 |
17-38510716-G-C | c.970G>C | p.A324P | Missense | 7/9 | - | 1 |
17-38510717-C-T | c.971C>T | p.A324V | Missense | 7/9 | - | 3 |
17-38510719-G-A | c.973G>A | p.E325K | Missense | 7/9 | - | 1 |
17-38510721-G-C | c.975G>C | p.E325D | Missense | 7/9 | - | 1 |
17-38510721-G-T | c.975G>T | p.E325D | Missense | 7/9 | - | 1 |
17-38510723-C-G | c.977C>G | p.T326R | Missense | 7/9 | - | 1 |
17-38510723-C-T | c.977C>T | p.T326M | Missense | 7/9 | - | 4 |
17-38510724-G-A | c.978G>A | p.T326= | Synonymous | 7/9 | - | 1 |
17-38510726-G-A | c.980G>A | p.G327E | Missense | 7/9 | - | 1 |
17-38510726-G-T | c.980G>T | p.G327V | Missense | 7/9 | - | 1 |
17-38510728-C-T | c.982C>T | p.L328= | Synonymous | 7/9 | - | 1 |
17-38510730-G-A | c.984G>A | p.L328= | Synonymous | 7/9 | - | 1 |
17-38510730-G-C | c.984G>C | p.L328= | Synonymous | 7/9 | - | 1 |
17-38510730-G-T | c.984G>T | p.L328= | Synonymous | 7/9 | - | 1 |
17-38510733-C-G | c.987C>G | p.L329= | Synonymous | 7/9 | - | 3 |
17-38510737-G-C | c.991G>C | p.A331P | Missense | 7/9 | - | 1 |
17-38510741-T-A | c.995T>A | p.I332N | Missense | 7/9 | - | 1 |
17-38510742-C-G | c.996C>G | p.I332M | Missense | 7/9 | - | 2 |
17-38510742-C-T | c.996C>T | p.I332= | Synonymous | 7/9 | - | 2 |
17-38510744-G-T | c.998G>T | p.C333F | Missense | 7/9 | - | 2 |
17-38510745-C-T | c.999C>T | p.C333= | Synonymous | 7/9 | - | 1 |
17-38510746-C-A | c.1000C>A | p.L334I | Missense | 7/9 | - | 1 |
17-38510748-C-T | c.1002C>T | p.L334= | Synonymous | 7/9 | - | 1 |
17-38510751-C-T | c.1005C>T | p.I335= | Synonymous | 7/9 | - | 1 |
17-38510754-C-G | c.1008C>G | p.C336W | Missense | 7/9 | - | 1 |
17-38510756-G-A | c.1010G>A | p.G337E | Missense | 7/9 | - | 1 |
17-38510757-A-C | c.1011A>C | p.G337= | Synonymous | 7/9 | - | 1 |
17-38510757-A-G | c.1011A>G | p.G337= | Synonymous | 7/9 | - | 1 |
17-38510757-A-T | c.1011A>T | p.G337= | Synonymous | 7/9 | - | 2 |
17-38510760-T-G | c.1012+2T>G | - | IntronicSNV | - | 7/8 | 1 |
17-38510765-A-G | c.1012+7A>G | - | IntronicSNV | - | 7/8 | 1 |
17-38510765-A-T | c.1012+7A>T | - | IntronicSNV | - | 7/8 | 1 |
17-38510773-T-G | c.1012+15T>G | - | IntronicSNV | - | 7/8 | 1 |
17-38510779-T-G | c.1012+21T>G | - | IntronicSNV | - | 7/8 | 1 |
17-38510785-C-T | c.1012+27C>T | - | IntronicSNV | - | 7/8 | 1 |
17-38510786-T-G | c.1012+28T>G | - | IntronicSNV | - | 7/8 | 1 |
17-38510790-C-T | c.1012+32C>T | - | IntronicSNV | - | 7/8 | 1 |
17-38510791-T-G | c.1012+33T>G | - | IntronicSNV | - | 7/8 | 1 |
17-38510796-C-G | c.1012+38C>G | - | IntronicSNV | - | 7/8 | 1 |
17-38511509-C-T | c.1013-6C>T | - | IntronicSNV | - | 7/8 | 4 |
17-38511515-A-C | c.1013A>C | p.D338A | Missense | 8/9 | - | 1 |
17-38511517-C-T | c.1015C>T | p.R339C | Missense | 8/9 | - | 2 |
17-38511518-G-A | c.1016G>A | p.R339H | Missense | 8/9 | - | 4 |
17-38511519-C-A | c.1017C>A | p.R339= | Synonymous | 8/9 | - | 1 |
17-38511519-C-G | c.1017C>G | p.R339= | Synonymous | 8/9 | - | 1 |
17-38511519-C-T | c.1017C>T | p.R339= | Synonymous | 8/9 | - | 1 |
17-38511520-C-T | c.1018C>T | p.Q340* | Nonsense | 8/9 | - | 2 |
17-38511523-G-A | c.1021G>A | p.D341N | Missense | 8/9 | - | 1 |
17-38511523-G-GC | c.1021_1022insC | p.D341Afs*43 | Frameshift | 8/9 | - | 1 |
17-38511523-G-T | c.1021G>T | p.D341Y | Missense | 8/9 | - | 3 |
17-38511526-CT-AC | c.1024_1025delinsAC | p.L342T | Missense | 8/9 | - | 2 |
17-38511535-CC-GG | c.1033_1034inv | p.P345G | Missense | 8/9 | - | 1 |
17-38511535-C-T | c.1033C>T | p.P345S | Missense | 8/9 | - | 4 |
17-38511536-C-T | c.1034C>T | p.P345L | Missense | 8/9 | - | 2 |
17-38511538-G-C | c.1036G>C | p.D346H | Missense | 8/9 | - | 3 |
17-38511541-C-T | c.1039C>T | p.R347W | Missense | 8/9 | - | 1 |
17-38511547-G-T | c.1045G>T | p.D349Y | Missense | 8/9 | - | 1 |
17-38511548-A-G | c.1046A>G | p.D349G | Missense | 8/9 | - | 2 |
17-38511552-G-T | c.1050G>T | p.M350I | Missense | 8/9 | - | 1 |
17-38511565-CT-TA | c.1063_1064delinsTA | p.L355* | Nonsense | 8/9 | - | 2 |
17-38511566-T-A | c.1064T>A | p.L355Q | Missense | 8/9 | - | 4 |
17-38511574-G-A | c.1072G>A | p.A358T | Missense | 8/9 | - | 4 |
17-38511574-G-T | c.1072G>T | p.A358S | Missense | 8/9 | - | 1 |
17-38511575-C-T | c.1073C>T | p.A358V | Missense | 8/9 | - | 1 |
17-38511577-C-G | c.1075C>G | p.L359V | Missense | 8/9 | - | 1 |
17-38511581-A-T | c.1079A>T | p.K360M | Missense | 8/9 | - | 1 |
17-38511582-G-A | c.1080G>A | p.K360= | Synonymous | 8/9 | - | 1 |
17-38511585-C-T | c.1083C>T | p.V361= | Synonymous | 8/9 | - | 1 |
17-38511588-C-T | c.1086C>T | p.Y362= | Synonymous | 8/9 | - | 2 |
17-38511589-G-A | c.1087G>A | p.V363M | Missense | 8/9 | - | 2 |
17-38511589-GTG-ATC | c.1087_1089delinsATC | p.V363I | Missense | 8/9 | - | 1 |
17-38511592-C-T | c.1090C>T | p.R364W | Missense | 8/9 | - | 1 |
17-38511593-GG-AT | c.1091_1092delinsAT | p.R364H | Missense | 8/9 | - | 1 |
17-38511597-G-A | c.1095G>A | p.K365= | Synonymous | 8/9 | - | 1 |
17-38511598-C-A | c.1096C>A | p.R366= | Synonymous | 8/9 | - | 1 |
17-38511600-G-A | c.1098G>A | p.R366= | Synonymous | 8/9 | - | 1 |
17-38511600-G-C | c.1098G>C | p.R366= | Synonymous | 8/9 | - | 1 |
17-38511600-G-T | c.1098G>T | p.R366= | Synonymous | 8/9 | - | 1 |
17-38511601-AG-GC | c.1099_1100delinsGC | p.R367A | Missense | 8/9 | - | 1 |
17-38511603-G-C | c.1101G>C | p.R367S | Missense | 8/9 | - | 2 |
17-38511607-A-G | c.1105A>G | p.S369G | Missense | 8/9 | - | 1 |
17-38511607-AGC-GAG | c.1105_1107delinsGAG | p.S369E | Missense | 8/9 | - | 2 |
17-38511607-AG-GC | c.1105_1106delinsGC | p.S369A | Missense | 8/9 | - | 4 |
17-38511608-G-A | c.1106G>A | p.S369N | Missense | 8/9 | - | 1 |
17-38511608-G-T | c.1106G>T | p.S369I | Missense | 8/9 | - | 1 |
17-38511609-C-T | c.1107C>T | p.S369= | Synonymous | 8/9 | - | 1 |
17-38511608-GC-G | c.1108del | p.R370Afs*9 | Frameshift | 8/9 | - | 1 |
17-38511611-G-A | c.1109G>A | p.R370H | Missense | 8/9 | - | 6 |
17-38511613-CC-TT | c.1111_1112delinsTT | p.P371F | Missense | 8/9 | - | 1 |
17-38511614-C-G | c.1112C>G | p.P371R | Missense | 8/9 | - | 2 |
17-38511614-C-T | c.1112C>T | p.P371L | Missense | 8/9 | - | 1 |
17-38511617-A-G | c.1115A>G | p.H372R | Missense | 8/9 | - | 1 |
17-38511622-T-C | c.1120T>C | p.F374L | Missense | 8/9 | - | 1 |
17-38511624-C-T | c.1122C>T | p.F374= | Synonymous | 8/9 | - | 2 |
17-38511625-C-T | c.1123C>T | p.P375S | Missense | 8/9 | - | 1 |
17-38511626-C-T | c.1124C>T | p.P375L | Missense | 8/9 | - | 7 |
17-38511623-T-TC | c.1125dup | p.K376Qfs*8 | Frameshift | 8/9 | - | 1 |
17-38511636-A-G | c.1134A>G | p.L378= | Synonymous | 8/9 | - | 1 |
17-38511642-G-C | c.1140G>C | p.K380N | Missense | 8/9 | - | 6 |
17-38511642-G-T | c.1140G>T | p.K380N | Missense | 8/9 | - | 4 |
17-38511645-T-A | c.1143T>A | p.I381= | Synonymous | 8/9 | - | 1 |
17-38511645-T-C | c.1143T>C | p.I381= | Synonymous | 8/9 | - | 1 |
17-38511649-G-A | c.1147G>A | p.D383N | Missense | 8/9 | - | 2 |
17-38511655-C-A | c.1153C>A | p.R385= | Synonymous | 8/9 | - | 1 |
17-38511655-CGA-TGT | c.1153_1155delinsTGT | p.R385C | Missense | 8/9 | - | 2 |
17-38511655-C-T | c.1153C>T | p.R385* | Nonsense | 8/9 | - | 1 |
17-38511657-A-C | c.1155A>C | p.R385= | Synonymous | 8/9 | - | 1 |
17-38511657-A-G | c.1155A>G | p.R385= | Synonymous | 8/9 | - | 1 |
17-38511657-A-T | c.1155A>T | p.R385= | Synonymous | 8/9 | - | 1 |
17-38511656-G-A | c.1154G>A | p.R385Q | Missense | 8/9 | - | 13 |
17-38511656-G-GTTGTC | c.1154_1155insTTGTC | p.S386Cfs*12 | Frameshift | 8/9 | - | 1 |
17-38511661-A-G | c.1159A>G | p.I387V | Missense | 8/9 | - | 1 |
17-38511663-C-G | c.1161C>G | p.I387M | Missense | 8/9 | - | 1 |
17-38511665-G-A | c.1163G>A | p.S388N | Missense | 8/9 | - | 2 |
17-38511666-C-A | c.1164C>A | p.S388R | Missense | 8/9 | - | 2 |
17-38511666-C-T | c.1164C>T | p.S388= | Synonymous | 8/9 | - | 2 |
17-38511667-G-A | c.1165G>A | p.A389T | Missense | 8/9 | - | 4 |
17-38511745-C-T | c.1171+72C>T | - | IntronicSNV | - | 8/8 | 1 |
17-38512197-T-C | c.1172-64T>C | - | IntronicSNV | - | 8/8 | 2 |
17-38512230-G-A | c.1172-31G>A | - | IntronicSNV | - | 8/8 | 1 |
17-38512261-G-A | c.1172G>A | p.G391E | Missense | 9/9 | - | 1 |
17-38512262-G-A | c.1173G>A | p.G391= | Synonymous | 9/9 | - | 1 |
17-38512262-G-C | c.1173G>C | p.G391= | Synonymous | 9/9 | - | 1 |
17-38512262-G-T | c.1173G>T | p.G391= | Synonymous | 9/9 | - | 1 |
17-38512266-G-A | c.1177G>A | p.E393K | Missense | 9/9 | - | 3 |
17-38512268-G-A | c.1179G>A | p.E393= | Synonymous | 9/9 | - | 2 |
17-38512269-CG-AT | c.1180_1181delinsAT | p.R394M | Missense | 9/9 | - | 1 |
17-38512269-CGG-AGC | c.1180_1182delinsAGC | p.R394S | Missense | 9/9 | - | 1 |
17-38512269-CGG-TGT | c.1180_1182delinsTGT | p.R394C | Missense | 9/9 | - | 1 |
17-38512269-C-T | c.1180C>T | p.R394W | Missense | 9/9 | - | 8 |
17-38512270-G-A | c.1181G>A | p.R394Q | Missense | 9/9 | - | 4 |
17-38512270-G-C | c.1181G>C | p.R394P | Missense | 9/9 | - | 1 |
17-38512270-G-T | c.1181G>T | p.R394L | Missense | 9/9 | - | 3 |
17-38512273-T-G | c.1184T>G | p.V395G | Missense | 9/9 | - | 1 |
17-38512274-G-A | c.1185G>A | p.V395= | Synonymous | 9/9 | - | 1 |
17-38512275-ATC-GAG | c.1186_1188delinsGAG | p.I396E | Missense | 9/9 | - | 1 |
17-38512278-A-G | c.1189A>G | p.T397A | Missense | 9/9 | - | 1 |
17-38512279-C-T | c.1190C>T | p.T397M | Missense | 9/9 | - | 1 |
17-38512281-C-G | c.1192C>G | p.L398V | Missense | 9/9 | - | 1 |
17-38512282-T-C | c.1193T>C | p.L398P | Missense | 9/9 | - | 1 |
17-38512285-A-G | c.1196A>G | p.K399R | Missense | 9/9 | - | 3 |
17-38512287-GAT-G | c.1198_1199del | p.M400Gfs*45 | Frameshift | 9/9 | - | 1 |
17-38512289-G-A | c.1200G>A | p.M400I | Missense | 9/9 | - | 1 |
17-38512289-G-C | c.1200G>C | p.M400I | Missense | 9/9 | - | 1 |
17-38512289-G-T | c.1200G>T | p.M400I | Missense | 9/9 | - | 1 |
17-38512290-G-A | c.1201G>A | p.E401K | Missense | 9/9 | - | 4 |
17-38512290-G-T | c.1201G>T | p.E401* | Nonsense | 9/9 | - | 1 |
17-38512291-A-G | c.1202A>G | p.E401G | Missense | 9/9 | - | 1 |
17-38512293-A-T | c.1204A>T | p.I402F | Missense | 9/9 | - | 3 |
17-38512295-C-T | c.1206C>T | p.I402= | Synonymous | 9/9 | - | 3 |
17-38512296-C-T | c.1207C>T | p.P403S | Missense | 9/9 | - | 1 |
17-38512297-C-T | c.1208C>T | p.P403L | Missense | 9/9 | - | 2 |
17-38512298-G-A | c.1209G>A | p.P403= | Synonymous | 9/9 | - | 1 |
17-38512298-G-C | c.1209G>C | p.P403= | Synonymous | 9/9 | - | 1 |
17-38512298-G-T | c.1209G>T | p.P403= | Synonymous | 9/9 | - | 1 |
17-38512300-G-T | c.1211G>T | p.G404V | Missense | 9/9 | - | 1 |
17-38512303-C-A | c.1214C>A | p.S405Y | Missense | 9/9 | - | 1 |
17-38512303-C-T | c.1214C>T | p.S405F | Missense | 9/9 | - | 1 |
17-38512305-CAT-C | c.1216_1217del | p.M406Afs*39 | Frameshift | 9/9 | - | 1 |
17-38512306-T-C | c.1217T>C | p.M406T | Missense | 9/9 | - | 1 |
17-38512306-T-G | c.1217T>G | p.M406R | Missense | 9/9 | - | 2 |
17-38512308-C-G | c.1219C>G | p.P407A | Missense | 9/9 | - | 1 |
17-38512308-C-T | c.1219C>T | p.P407S | Missense | 9/9 | - | 1 |
17-38512309-C-A | c.1220C>A | p.P407Q | Missense | 9/9 | - | 4 |
17-38512309-C-T | c.1220C>T | p.P407L | Missense | 9/9 | - | 2 |
17-38512308-CCG-C | c.1221_1222del | p.P408Sfs*37 | Frameshift | 9/9 | - | 1 |
17-38512312-C-A | c.1223C>A | p.P408H | Missense | 9/9 | - | 1 |
17-38512314-C-A | c.1225C>A | p.L409I | Missense | 9/9 | - | 1 |
17-38512314-C-G | c.1225C>G | p.L409V | Missense | 9/9 | - | 1 |
17-38512314-C-T | c.1225C>T | p.L409F | Missense | 9/9 | - | 3 |
17-38512315-CTCATCCAGGAAATGTTGGAGAACTCAGAGGGCCTGGACACTCTGAGCGGACAGCCGGGG-C | c.1226_1284del | p.L409Rfs*17 | CdsStopDeletion | 9/9 | - | 1 |
17-38512315-T-C | c.1226T>C | p.L409P | Missense | 9/9 | - | 1 |
17-38512315-T-G | c.1226T>G | p.L409R | Missense | 9/9 | - | 1 |
17-38512321-A-G | c.1232A>G | p.Q411R | Missense | 9/9 | - | 3 |
17-38512323-G-A | c.1234G>A | p.E412K | Missense | 9/9 | - | 1 |
17-38512323-G-T | c.1234G>T | p.E412* | Nonsense | 9/9 | - | 2 |
17-38512327-T-C | c.1238T>C | p.M413T | Missense | 9/9 | - | 2 |
17-38512332-G-C | c.1243G>C | p.E415Q | Missense | 9/9 | - | 2 |
17-38512339-CA-TT | c.1250_1251delinsTT | p.S417F | Missense | 9/9 | - | 2 |
17-38512341-G-A | c.1252G>A | p.E418K | Missense | 9/9 | - | 6 |
17-38512345-G-T | c.1256G>T | p.G419V | Missense | 9/9 | - | 2 |
17-38512356-CT-TC | c.1267_1268delinsTC | p.L423S | Missense | 9/9 | - | 1 |
17-38512356-C-T | c.1267C>T | p.L423= | Synonymous | 9/9 | - | 1 |
17-38512358-G-A | c.1269G>A | p.L423= | Synonymous | 9/9 | - | 1 |
17-38512358-G-C | c.1269G>C | p.L423= | Synonymous | 9/9 | - | 1 |
17-38512358-G-T | c.1269G>T | p.L423= | Synonymous | 9/9 | - | 1 |
17-38512359-A-G | c.1270A>G | p.S424G | Missense | 9/9 | - | 1 |
17-38512360-AG-A | c.1271del | p.S424Tfs*219 | Frameshift | 9/9 | - | 1 |
17-38512360-G-A | c.1271G>A | p.S424N | Missense | 9/9 | - | 1 |
17-38512361-C-T | c.1272C>T | p.S424= | Synonymous | 9/9 | - | 1 |
17-38512362-G-A | c.1273G>A | p.G425R | Missense | 9/9 | - | 2 |
17-38512363-G-A | c.1274G>A | p.G425E | Missense | 9/9 | - | 2 |
17-38512364-A-C | c.1275A>C | p.G425= | Synonymous | 9/9 | - | 1 |
17-38512364-A-G | c.1275A>G | p.G425= | Synonymous | 9/9 | - | 1 |
17-38512364-A-T | c.1275A>T | p.G425= | Synonymous | 9/9 | - | 1 |
17-38512366-A-C | c.1277A>C | p.Q426P | Missense | 9/9 | - | 1 |
17-38512367-AG-A | c.1278del | p.Q426Hfs*217 | Frameshift | 9/9 | - | 1 |
17-38512368-C-G | c.1279C>G | p.P427A | Missense | 9/9 | - | 3 |
17-38512369-C-A | c.1280C>A | p.P427Q | Missense | 9/9 | - | 1 |
17-38512369-C-G | c.1280C>G | p.P427R | Missense | 9/9 | - | 1 |
17-38512372-G-C | c.1283G>C | p.G428A | Missense | 9/9 | - | 1 |
17-38512372-G-T | c.1283G>T | p.G428V | Missense | 9/9 | - | 1 |
17-38512373-G-C | c.1284G>C | p.G428= | Synonymous | 9/9 | - | 3 |
17-38512374-G-A | c.1285G>A | p.G429S | Missense | 9/9 | - | 2 |
17-38512374-GGT-TGA | c.1285_1287delinsTGA | p.G429* | Nonsense | 9/9 | - | 1 |
17-38512374-G-T | c.1285G>T | p.G429C | Missense | 9/9 | - | 1 |
17-38512368-CCGGGGGGTGGGGGGCGGGA-C | c.1286_1304del | p.G429Vfs*208 | Frameshift | 9/9 | - | 1 |
17-38512369-C-CG | c.1286dup | p.G430Wfs*16 | Frameshift | 9/9 | - | 1 |
17-38512369-CG-C | c.1286del | p.G429Vfs*214 | Frameshift | 9/9 | - | 5 |
17-38512375-G-A | c.1286G>A | p.G429D | Missense | 9/9 | - | 2 |
17-38512375-G-C | c.1286G>C | p.G429A | Missense | 9/9 | - | 2 |
17-38512376-T-A | c.1287T>A | p.G429= | Synonymous | 9/9 | - | 2 |
17-38512376-T-C | c.1287T>C | p.G429= | Synonymous | 9/9 | - | 2 |
17-38512376-T-G | c.1287T>G | p.G429= | Synonymous | 9/9 | - | 5 |
17-38512377-G-T | c.1288G>T | p.G430W | Missense | 9/9 | - | 1 |
17-38512378-G-T | c.1289G>T | p.G430V | Missense | 9/9 | - | 1 |
17-38512379-G-A | c.1290G>A | p.G430= | Synonymous | 9/9 | - | 3 |
17-38512379-G-C | c.1290G>C | p.G430= | Synonymous | 9/9 | - | 3 |
17-38512379-G-T | c.1290G>T | p.G430= | Synonymous | 9/9 | - | 3 |
17-38512381-GG-AC | c.1292_1293delinsAC | p.G431D | Missense | 9/9 | - | 1 |
17-38512376-TG-T | c.1293del | p.R432Gfs*211 | Frameshift | 9/9 | - | 1 |
17-38512383-C-G | c.1294C>G | p.R432G | Missense | 9/9 | - | 2 |
17-38512383-C-T | c.1294C>T | p.R432W | Missense | 9/9 | - | 6 |
17-38512384-G-A | c.1295G>A | p.R432Q | Missense | 9/9 | - | 2 |
17-38512384-GG-AT | c.1295_1296delinsAT | p.R432H | Missense | 9/9 | - | 1 |
17-38512386-G-A | c.1297G>A | p.D433N | Missense | 9/9 | - | 1 |
17-38512386-G-C | c.1297G>C | p.D433H | Missense | 9/9 | - | 1 |
17-38512387-A-T | c.1298A>T | p.D433V | Missense | 9/9 | - | 1 |
17-38512388-C-A | c.1299C>A | p.D433E | Missense | 9/9 | - | 5 |
17-38512388-C-G | c.1299C>G | p.D433E | Missense | 9/9 | - | 5 |
17-38512388-C-T | c.1299C>T | p.D433= | Synonymous | 9/9 | - | 1 |
17-38512389-G-A | c.1300G>A | p.G434R | Missense | 9/9 | - | 2 |
17-38512389-G-C | c.1300G>C | p.G434R | Missense | 9/9 | - | 1 |
17-38512389-G-T | c.1300G>T | p.G434W | Missense | 9/9 | - | 1 |
17-38512390-G-A | c.1301G>A | p.G434E | Missense | 9/9 | - | 2 |
17-38512391-G-A | c.1302G>A | p.G434= | Synonymous | 9/9 | - | 1 |
17-38512391-G-C | c.1302G>C | p.G434= | Synonymous | 9/9 | - | 1 |
17-38512391-G-T | c.1302G>T | p.G434= | Synonymous | 9/9 | - | 1 |
17-38512392-G-A | c.1303G>A | p.G435S | Missense | 9/9 | - | 2 |
17-38512388-CG-C | c.1304del | p.G435Vfs*208 | Frameshift | 9/9 | - | 1 |
17-38512394-T-A | c.1305T>A | p.G435= | Synonymous | 9/9 | - | 2 |
17-38512394-T-C | c.1305T>C | p.G435= | Synonymous | 9/9 | - | 2 |
17-38512394-T-G | c.1305T>G | p.G435= | Synonymous | 9/9 | - | 2 |
17-38512398-C-A | c.1309C>A | p.L437M | Missense | 9/9 | - | 1 |
17-38512399-T-C | c.1310T>C | p.L437P | Missense | 9/9 | - | 1 |
17-38512401-G-C | c.1312G>C | p.A438P | Missense | 9/9 | - | 2 |
17-38512404-C-T | c.1315C>T | p.P439S | Missense | 9/9 | - | 1 |
17-38512405-C-T | c.1316C>T | p.P439L | Missense | 9/9 | - | 3 |
17-38512401-GC-G | c.1319del | p.P440Rfs*203 | Frameshift | 9/9 | - | 1 |
17-38512401-G-GC | c.1319dup | p.P441Afs*5 | Frameshift | 9/9 | - | 2 |
17-38512408-C-T | c.1319C>T | p.P440L | Missense | 9/9 | - | 2 |
17-38512411-C-T | c.1322C>T | p.P441L | Missense | 9/9 | - | 1 |
17-38512413-G-T | c.1324G>T | p.G442C | Missense | 9/9 | - | 1 |
17-38512422-AG-GC | c.1333_1334delinsGC | p.S445A | Missense | 9/9 | - | 1 |
17-38512423-G-A | c.1334G>A | p.S445N | Missense | 9/9 | - | 1 |
17-38512424-C-T | c.1335C>T | p.S445= | Synonymous | 9/9 | - | 1 |
17-38512428-A-C | c.1339A>C | p.S447R | Missense | 9/9 | - | 1 |
17-38512430-C-T | c.1341C>T | p.S447= | Synonymous | 9/9 | - | 1 |
17-38512431-C-A | c.1342C>A | p.L448I | Missense | 9/9 | - | 1 |
17-38512434-AG-CC | c.1345_1346delinsCC | p.S449P | Missense | 9/9 | - | 1 |
17-38512436-C-A | c.1347C>A | p.S449R | Missense | 9/9 | - | 1 |
17-38512436-C-T | c.1347C>T | p.S449= | Synonymous | 9/9 | - | 2 |
17-38512437-CC-TT | c.1348_1349delinsTT | p.P450F | Missense | 9/9 | - | 3 |
17-38512437-C-T | c.1348C>T | p.P450S | Missense | 9/9 | - | 10 |
17-38512444-C-T | c.1355C>T | p.S452F | Missense | 9/9 | - | 3 |
17-38512450-G-A | c.1361G>A | p.R454K | Missense | 9/9 | - | 3 |
17-38512455-A-G | c.1366A>G | p.S456G | Missense | 9/9 | - | 1 |
17-38512457-C-G | c.1368C>G | p.S456R | Missense | 9/9 | - | 2 |
17-38512457-C-T | c.1368C>T | p.S456= | Synonymous | 9/9 | - | 1 |
17-38512459-C-T | c.1370C>T | p.P457L | Missense | 9/9 | - | 4 |
17-38512460-G-A | c.1371G>A | p.P457= | Synonymous | 9/9 | - | 1 |
17-38512460-G-C | c.1371G>C | p.P457= | Synonymous | 9/9 | - | 1 |
17-38512460-G-T | c.1371G>T | p.P457= | Synonymous | 9/9 | - | 1 |
17-38512461-G-T | c.1372G>T | p.A458S | Missense | 9/9 | - | 2 |
17-38512470-T-G | c.1381T>G | p.S461A | Missense | 9/9 | - | 1 |
17-38512471-C-G | c.1382C>G | p.S461C | Missense | 9/9 | - | 5 |
17-38512472-C-A | c.1383C>A | p.S461= | Synonymous | 9/9 | - | 1 |
17-38512472-C-G | c.1383C>G | p.S461= | Synonymous | 9/9 | - | 1 |
17-38512472-C-T | c.1383C>T | p.S461= | Synonymous | 9/9 | - | 3 |
17-38512473-C-T | c.1384C>T | p.P462S | Missense | 9/9 | - | 3 |
17-38512475-G-A | c.1386G>A | p.P462= | Synonymous | 9/9 | - | 1 |
17-38512480-C-T | c.*2C>T | - | 3-UTRSNV | 9/9 | - | 5 |
17-38512481-G-A | c.*3G>A | - | 3-UTRSNV | 9/9 | - | 1 |
17-38512481-G-C | c.*3G>C | - | 3-UTRSNV | 9/9 | - | 1 |
17-38512614-G-A | c.*136G>A | - | 3-UTRSNV | 9/9 | - | 1 |
17-38512614-G-C | c.*136G>C | - | 3-UTRSNV | 9/9 | - | 1 |
17-38512614-G-T | c.*136G>T | - | 3-UTRSNV | 9/9 | - | 1 |
17-38512916-T-G | c.*438T>G | - | 3-UTRSNV | 9/9 | - | 1 |
17-38512948-A-C | c.*470A>C | - | 3-UTRSNV | 9/9 | - | 1 |