Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
12-8975250-G-A | c.3G>A | p.M1? | Missense | 1/36 | - | 1 |
12-8975250-G-C | c.3G>C | p.M1? | Missense | 1/36 | - | 1 |
12-8975250-G-T | c.3G>T | p.M1? | Missense | 1/36 | - | 1 |
12-8975251-T-C | c.4T>C | p.W2R | Missense | 1/36 | - | 1 |
12-8975251-T-G | c.4T>G | p.W2G | Missense | 1/36 | - | 1 |
12-8975254-GC-CG | c.7_8delinsCG | p.A3R | Missense | 1/36 | - | 1 |
12-8975256-T-A | c.9T>A | p.A3= | Synonymous | 1/36 | - | 1 |
12-8975257-C-T | c.10C>T | p.Q4* | Nonsense | 1/36 | - | 1 |
12-8975263-C-G | c.16C>G | p.L6V | Missense | 1/36 | - | 1 |
12-8975273-T-A | c.26T>A | p.M9K | Missense | 1/36 | - | 2 |
12-8975273-T-C | c.26T>C | p.M9T | Missense | 1/36 | - | 1 |
12-8975274-G-A | c.27G>A | p.M9I | Missense | 1/36 | - | 1 |
12-8975274-G-C | c.27G>C | p.M9I | Missense | 1/36 | - | 1 |
12-8975274-G-T | c.27G>T | p.M9I | Missense | 1/36 | - | 1 |
12-8975277-G-A | c.30G>A | p.L10= | Synonymous | 1/36 | - | 1 |
12-8975278-G-A | c.31G>A | p.A11T | Missense | 1/36 | - | 2 |
12-8975278-GC-AA | c.31_32delinsAA | p.A11N | Missense | 1/36 | - | 2 |
12-8975278-GC-CA | c.31_32delinsCA | p.A11H | Missense | 1/36 | - | 1 |
12-8975278-GC-CG | c.31_32delinsCG | p.A11R | Missense | 1/36 | - | 1 |
12-8975278-GC-TT | c.31_32delinsTT | p.A11F | Missense | 1/36 | - | 1 |
12-8975279-CC-AG | c.32_33delinsAG | p.A11E | Missense | 1/36 | - | 1 |
12-8975281-C-G | c.34C>G | p.L12V | Missense | 1/36 | - | 1 |
12-8975281-C-T | c.34C>T | p.L12= | Synonymous | 1/36 | - | 1 |
12-8975283-A-G | c.36A>G | p.L12= | Synonymous | 1/36 | - | 1 |
12-8975285-C-A | c.38C>A | p.S13* | Nonsense | 1/36 | - | 1 |
12-8975285-C-T | c.38C>T | p.S13L | Missense | 1/36 | - | 1 |
12-8975287-C-G | c.40C>G | p.P14A | Missense | 1/36 | - | 1 |
12-8975287-C-T | c.40C>T | p.P14S | Missense | 1/36 | - | 2 |
12-8975290-GC-TG | c.43_44delinsTG | p.A15C | Missense | 1/36 | - | 1 |
12-8975291-C-A | c.44C>A | p.A15D | Missense | 1/36 | - | 1 |
12-8975291-C-T | c.44C>T | p.A15V | Missense | 1/36 | - | 1 |
12-8975292-C-A | c.45C>A | p.A15= | Synonymous | 1/36 | - | 1 |
12-8975292-C-G | c.45C>G | p.A15= | Synonymous | 1/36 | - | 1 |
12-8975292-C-T | c.45C>T | p.A15= | Synonymous | 1/36 | - | 1 |
12-8975294-T-C | c.47T>C | p.I16T | Missense | 1/36 | - | 1 |
12-8975294-T-G | c.47T>G | p.I16S | Missense | 1/36 | - | 1 |
12-8975296-GCA-CAT | c.49_51delinsCAT | p.A17H | Missense | 1/36 | - | 1 |
12-8975296-GC-CA | c.49_50delinsCA | p.A17Q | Missense | 1/36 | - | 2 |
12-8975297-CA-AC | c.50_51delinsAC | p.A17D | Missense | 1/36 | - | 1 |
12-8975297-C-G | c.50C>G | p.A17G | Missense | 1/36 | - | 2 |
12-8975297-C-T | c.50C>T | p.A17V | Missense | 1/36 | - | 1 |
12-8975299-G-A | c.52G>A | p.E18K | Missense | 1/36 | - | 1 |
12-8975302-G-A | c.55G>A | p.E19K | Missense | 1/36 | - | 1 |
12-8975302-G-T | c.55G>T | p.E19* | Nonsense | 1/36 | - | 4 |
12-8975308-C-G | c.61C>G | p.P21A | Missense | 1/36 | - | 2 |
12-8975309-C-A | c.62C>A | p.P21Q | Missense | 1/36 | - | 1 |
12-8975310-G-A | c.62+1G>A | - | IntronicSNV | - | 1/35 | 1 |
12-8975310-G-C | c.62+1G>C | - | IntronicSNV | - | 1/35 | 1 |
12-8975605-A-G | c.63-173A>G | - | IntronicSNV | - | 1/35 | 2 |
12-8975782-T-A | c.67T>A | p.Y23N | Missense | 2/36 | - | 1 |
12-8975783-A-G | c.68A>G | p.Y23C | Missense | 2/36 | - | 1 |
12-8975787-G-T | c.72G>T | p.L24= | Synonymous | 2/36 | - | 1 |
12-8975788-G-C | c.73G>C | p.V25L | Missense | 2/36 | - | 1 |
12-8975788-G-T | c.73G>T | p.V25L | Missense | 2/36 | - | 1 |
12-8975790-G-A | c.75G>A | p.V25= | Synonymous | 2/36 | - | 1 |
12-8975793-A-C | c.78A>C | p.T26= | Synonymous | 2/36 | - | 1 |
12-8975795-T-C | c.80T>C | p.L27S | Missense | 2/36 | - | 1 |
12-8975797-C-T | c.82C>T | p.P28S | Missense | 2/36 | - | 1 |
12-8975800-GC-CG | c.85_86delinsCG | p.A29R | Missense | 2/36 | - | 1 |
12-8975800-GC-CT | c.85_86delinsCT | p.A29L | Missense | 2/36 | - | 3 |
12-8975800-GCC-TGG | c.85_87delinsTGG | p.A29W | Missense | 2/36 | - | 1 |
12-8975801-C-A | c.86C>A | p.A29D | Missense | 2/36 | - | 4 |
12-8975801-CC-AG | c.86_87delinsAG | p.A29E | Missense | 2/36 | - | 2 |
12-8975801-C-G | c.86C>G | p.A29G | Missense | 2/36 | - | 1 |
12-8975803-CGG-TGT | c.88_90delinsTGT | p.R30C | Missense | 2/36 | - | 1 |
12-8975803-C-T | c.88C>T | p.R30W | Missense | 2/36 | - | 2 |
12-8975804-G-C | c.89G>C | p.R30P | Missense | 2/36 | - | 1 |
12-8975804-G-T | c.89G>T | p.R30L | Missense | 2/36 | - | 1 |
12-8975806-C-A | c.91C>A | p.L31I | Missense | 2/36 | - | 1 |
12-8975806-C-T | c.91C>T | p.L31= | Synonymous | 2/36 | - | 1 |
12-8975807-T-G | c.92T>G | p.L31R | Missense | 2/36 | - | 1 |
12-8975809-A-C | c.94A>C | p.N32H | Missense | 2/36 | - | 1 |
12-8975812-T-C | c.97T>C | p.F33L | Missense | 2/36 | - | 1 |
12-8975814-C-A | c.99C>A | p.F33L | Missense | 2/36 | - | 1 |
12-8975814-C-G | c.99C>G | p.F33L | Missense | 2/36 | - | 1 |
12-8975816-C-T | c.101C>T | p.P34L | Missense | 2/36 | - | 1 |
12-8975819-C-A | c.104C>A | p.S35Y | Missense | 2/36 | - | 1 |
12-8975819-C-T | c.104C>T | p.S35F | Missense | 2/36 | - | 1 |
12-8975820-C-A | c.105C>A | p.S35= | Synonymous | 2/36 | - | 4 |
12-8975820-C-G | c.105C>G | p.S35= | Synonymous | 2/36 | - | 3 |
12-8975820-C-T | c.105C>T | p.S35= | Synonymous | 2/36 | - | 4 |
12-8975821-G-A | c.106G>A | p.V36I | Missense | 2/36 | - | 2 |
12-8975826-G-A | c.111G>A | p.Q37= | Synonymous | 2/36 | - | 2 |
12-8975830-G-A | c.115G>A | p.V39I | Missense | 2/36 | - | 3 |
12-8975833-T-G | c.118T>G | p.C40G | Missense | 2/36 | - | 1 |
12-8975841-C-A | c.126C>A | p.D42E | Missense | 2/36 | - | 1 |
12-8975841-C-G | c.126C>G | p.D42E | Missense | 2/36 | - | 1 |
12-8975842-C-G | c.127C>G | p.L43V | Missense | 2/36 | - | 1 |
12-8975843-T-A | c.128T>A | p.L43Q | Missense | 2/36 | - | 1 |
12-8975843-T-C | c.128T>C | p.L43P | Missense | 2/36 | - | 1 |
12-8975844-G-C | c.129G>C | p.L43= | Synonymous | 2/36 | - | 1 |
12-8975848-C-T | c.133C>T | p.P45S | Missense | 2/36 | - | 1 |
12-8975850-T-A | c.135T>A | p.P45= | Synonymous | 2/36 | - | 2 |
12-8975850-T-C | c.135T>C | p.P45= | Synonymous | 2/36 | - | 1 |
12-8975850-T-G | c.135T>G | p.P45= | Synonymous | 2/36 | - | 1 |
12-8975852-G-A | c.137G>A | p.G46E | Missense | 2/36 | - | 2 |
12-8975852-G-C | c.137G>C | p.G46A | Missense | 2/36 | - | 1 |
12-8975852-G-T | c.137G>T | p.G46V | Missense | 2/36 | - | 1 |
12-8975853-G-A | c.138G>A | p.G46= | Synonymous | 2/36 | - | 2 |
12-8975853-G-C | c.138G>C | p.G46= | Synonymous | 2/36 | - | 2 |
12-8975853-G-T | c.138G>T | p.G46= | Synonymous | 2/36 | - | 2 |
12-8975854-T-C | c.139T>C | p.Y47H | Missense | 2/36 | - | 1 |
12-8975856-C-A | c.141C>A | p.Y47* | Nonsense | 2/36 | - | 1 |
12-8975856-C-G | c.141C>G | p.Y47* | Nonsense | 2/36 | - | 2 |
12-8975857-A-C | c.142A>C | p.S48R | Missense | 2/36 | - | 1 |
12-8975858-G-GT | c.144dup | p.D49* | Nonsense | 2/36 | - | 1 |
12-8975859-T-A | c.144T>A | p.S48R | Missense | 2/36 | - | 1 |
12-8975859-T-G | c.144T>G | p.S48R | Missense | 2/36 | - | 1 |
12-8975867-A-AAACTT | c.153_154insACTTA | p.F52Tfs*17 | Frameshift | 2/36 | - | 1 |
12-8975869-T-C | c.154T>C | p.F52L | Missense | 2/36 | - | 2 |
12-8975871-C-G | c.156C>G | p.F52L | Missense | 2/36 | - | 2 |
12-8975871-C-A | c.156C>A | p.F52L | Missense | 2/36 | - | 3 |
12-8975872-A-G | c.157A>G | p.T53A | Missense | 2/36 | - | 1 |
12-8975873-C-G | c.158C>G | p.T53R | Missense | 2/36 | - | 10 |
12-8975873-C-T | c.158C>T | p.T53M | Missense | 2/36 | - | 3 |
12-8975874-G-A | c.159G>A | p.T53= | Synonymous | 2/36 | - | 1 |
12-8975874-G-C | c.159G>C | p.T53= | Synonymous | 2/36 | - | 1 |
12-8975874-G-T | c.159G>T | p.T53= | Synonymous | 2/36 | - | 1 |
12-8975875-G-A | c.160G>A | p.V54I | Missense | 2/36 | - | 1 |
12-8975876-T-C | c.161T>C | p.V54A | Missense | 2/36 | - | 1 |
12-8975876-T-G | c.161T>G | p.V54G | Missense | 2/36 | - | 2 |
12-8975878-A-G | c.163A>G | p.T55A | Missense | 2/36 | - | 1 |
12-8975879-C-T | c.164C>T | p.T55I | Missense | 2/36 | - | 2 |
12-8975881-C-T | c.166C>T | p.L56= | Synonymous | 2/36 | - | 2 |
12-8975883-G-A | c.168G>A | p.L56= | Synonymous | 2/36 | - | 1 |
12-8975883-G-C | c.168G>C | p.L56= | Synonymous | 2/36 | - | 1 |
12-8975883-G-T | c.168G>T | p.L56= | Synonymous | 2/36 | - | 1 |
12-8975885-A-G | c.170A>G | p.E57G | Missense | 2/36 | - | 1 |
12-8975886-G-C | c.171G>C | p.E57D | Missense | 2/36 | - | 1 |
12-8975886-G-T | c.171G>T | p.E57D | Missense | 2/36 | - | 1 |
12-8975887-A-G | c.172A>G | p.T58A | Missense | 2/36 | - | 1 |
12-8975888-C-A | c.173C>A | p.T58N | Missense | 2/36 | - | 1 |
12-8975888-C-CCA | c.174_175dup | p.K59Tfs*9 | Frameshift | 2/36 | - | 1 |
12-8975889-C-T | c.174C>T | p.T58= | Synonymous | 2/36 | - | 1 |
12-8975890-A-AAC | c.176_177insCA | p.K59Nfs*9 | Frameshift | 2/36 | - | 1 |
12-8975891-A-C | c.176A>C | p.K59T | Missense | 2/36 | - | 1 |
12-8975892-G-T | c.177G>T | p.K59N | Missense | 2/36 | - | 2 |
12-8975893-G-A | c.178G>A | p.D60N | Missense | 2/36 | - | 2 |
12-8975893-G-C | c.178G>C | p.D60H | Missense | 2/36 | - | 1 |
12-8975896-A-C | c.181A>C | p.K61Q | Missense | 2/36 | - | 1 |
12-8975896-A-T | c.181A>T | p.K61* | Nonsense | 2/36 | - | 1 |
12-8975898-G-C | c.183G>C | p.K61N | Missense | 2/36 | - | 1 |
12-8975898-G-T | c.183G>T | p.K61N | Missense | 2/36 | - | 1 |
12-8975899-AC-TG | c.184_185delinsTG | p.T62C | Missense | 2/36 | - | 1 |
12-8975899-A-G | c.184A>G | p.T62A | Missense | 2/36 | - | 1 |
12-8975901-C-A | c.186C>A | p.T62= | Synonymous | 2/36 | - | 1 |
12-8975901-C-G | c.186C>G | p.T62= | Synonymous | 2/36 | - | 1 |
12-8975901-C-T | c.186C>T | p.T62= | Synonymous | 2/36 | - | 10 |
12-8975905-A-G | c.190A>G | p.K64E | Missense | 2/36 | - | 1 |
12-8975905-A-T | c.190A>T | p.K64* | Nonsense | 2/36 | - | 1 |
12-8975910-G-T | c.195G>T | p.L65F | Missense | 2/36 | - | 1 |
12-8975911-C-T | c.196C>T | p.L66= | Synonymous | 2/36 | - | 1 |
12-8975913-A-C | c.198A>C | p.L66= | Synonymous | 2/36 | - | 1 |
12-8975913-A-G | c.198A>G | p.L66= | Synonymous | 2/36 | - | 1 |
12-8975913-A-T | c.198A>T | p.L66= | Synonymous | 2/36 | - | 1 |
12-8975914-G-C | c.199G>C | p.E67Q | Missense | 2/36 | - | 1 |
12-8975915-A-G | c.200A>G | p.E67G | Missense | 2/36 | - | 1 |
12-8975915-A-T | c.200A>T | p.E67V | Missense | 2/36 | - | 2 |
12-8975916-A-C | c.201A>C | p.E67D | Missense | 2/36 | - | 1 |
12-8975917-T-C | c.202T>C | p.Y68H | Missense | 2/36 | - | 1 |
12-8975921-C-T | c.206C>T | p.S69F | Missense | 2/36 | - | 1 |
12-8975922-T-A | c.207T>A | p.S69= | Synonymous | 2/36 | - | 1 |
12-8975924-G-A | c.209G>A | p.G70E | Missense | 2/36 | - | 1 |
12-8975929-A-G | c.214A>G | p.K72E | Missense | 2/36 | - | 1 |
12-8975931-G-C | c.216G>C | p.K72N | Missense | 2/36 | - | 1 |
12-8975931-G-T | c.216G>T | p.K72N | Missense | 2/36 | - | 2 |
12-8975932-A-G | c.217A>G | p.K73E | Missense | 2/36 | - | 1 |
12-8975935-A-G | c.220A>G | p.R74G | Missense | 2/36 | - | 1 |
12-8975936-G-A | c.221G>A | p.R74K | Missense | 2/36 | - | 1 |
12-8975937-G-A | c.222G>A | p.R74= | Synonymous | 2/36 | - | 2 |
12-8975939-A-G | c.224A>G | p.H75R | Missense | 2/36 | - | 1 |
12-8975944-C-T | c.229C>T | p.H77Y | Missense | 2/36 | - | 1 |
12-8975946-T-G | c.231T>G | p.H77Q | Missense | 2/36 | - | 1 |
12-8975948-G-T | c.233G>T | p.C78F | Missense | 2/36 | - | 1 |
12-8975949-T-C | c.234T>C | p.C78= | Synonymous | 2/36 | - | 1 |
12-8975952-C-G | c.237C>G | p.I79M | Missense | 2/36 | - | 1 |
12-8975954-C-A | c.239C>A | p.S80Y | Missense | 2/36 | - | 1 |
12-8975954-C-T | c.239C>T | p.S80F | Missense | 2/36 | - | 2 |
12-8975955-C-A | c.240C>A | p.S80= | Synonymous | 2/36 | - | 2 |
12-8975955-C-G | c.240C>G | p.S80= | Synonymous | 2/36 | - | 1 |
12-8975955-C-T | c.240C>T | p.S80= | Synonymous | 2/36 | - | 1 |
12-8975957-T-G | c.242T>G | p.F81C | Missense | 2/36 | - | 1 |
12-8976173-C-T | c.247-143C>T | - | IntronicSNV | - | 2/35 | 1 |
12-8976300-C-T | c.247-16C>T | - | IntronicSNV | - | 2/35 | 1 |
12-8976320-C-T | c.251C>T | p.P84L | Missense | 3/36 | - | 2 |
12-8976325-C-T | c.256C>T | p.P86S | Missense | 3/36 | - | 4 |
12-8976326-C-T | c.257C>T | p.P86L | Missense | 3/36 | - | 2 |
12-8976327-T-A | c.258T>A | p.P86= | Synonymous | 3/36 | - | 1 |
12-8976327-T-C | c.258T>C | p.P86= | Synonymous | 3/36 | - | 1 |
12-8976327-T-G | c.258T>G | p.P86= | Synonymous | 3/36 | - | 1 |
12-8976329-C-A | c.260C>A | p.A87D | Missense | 3/36 | - | 1 |
12-8976330-CT-C | c.261del | p.G88Vfs*27 | Frameshift | 3/36 | - | 1 |
12-8976331-G-A | c.262G>A | p.G88S | Missense | 3/36 | - | 1 |
12-8976332-G-T | c.263G>T | p.G88V | Missense | 3/36 | - | 1 |
12-8976334-G-A | c.265G>A | p.G89S | Missense | 3/36 | - | 1 |
12-8976338-C-G | c.269C>G | p.T90R | Missense | 3/36 | - | 1 |
12-8976338-C-T | c.269C>T | p.T90I | Missense | 3/36 | - | 1 |
12-8976340-G-A | c.271G>A | p.E91K | Missense | 3/36 | - | 1 |
12-8976343-G-A | c.274G>A | p.E92K | Missense | 3/36 | - | 1 |
12-8976343-G-T | c.274G>T | p.E92* | Nonsense | 3/36 | - | 3 |
12-8976346-G-T | c.277G>T | p.V93L | Missense | 3/36 | - | 1 |
12-8976349-G-C | c.280G>C | p.A94P | Missense | 3/36 | - | 1 |
12-8976349-G-T | c.280G>T | p.A94S | Missense | 3/36 | - | 2 |
12-8976353-C-T | c.284C>T | p.T95I | Missense | 3/36 | - | 1 |
12-8976358-C-G | c.289C>G | p.R97G | Missense | 3/36 | - | 3 |
12-8976358-CG-AA | c.289_290delinsAA | p.R97K | Missense | 3/36 | - | 1 |
12-8976358-CGG-ATC | c.289_291delinsATC | p.R97I | Missense | 3/36 | - | 1 |
12-8976359-G-A | c.290G>A | p.R97Q | Missense | 3/36 | - | 1 |
12-8976361-G-A | c.292G>A | p.V98M | Missense | 3/36 | - | 1 |
12-8976361-G-T | c.292G>T | p.V98L | Missense | 3/36 | - | 1 |
12-8976361-GTG-ATC | c.292_294delinsATC | p.V98I | Missense | 3/36 | - | 1 |
12-8976363-G-A | c.294G>A | p.V98= | Synonymous | 3/36 | - | 3 |
12-8976363-G-C | c.294G>C | p.V98= | Synonymous | 3/36 | - | 3 |
12-8976363-G-T | c.294G>T | p.V98= | Synonymous | 3/36 | - | 3 |
12-8976367-G-A | c.298G>A | p.G100R | Missense | 3/36 | - | 1 |
12-8976368-G-A | c.299G>A | p.G100E | Missense | 3/36 | - | 2 |
12-8976368-G-C | c.299G>C | p.G100A | Missense | 3/36 | - | 1 |
12-8976369-A-C | c.300A>C | p.G100= | Synonymous | 3/36 | - | 1 |
12-8976369-A-G | c.300A>G | p.G100= | Synonymous | 3/36 | - | 1 |
12-8976369-A-T | c.300A>T | p.G100= | Synonymous | 3/36 | - | 1 |
12-8976370-G-A | c.301G>A | p.V101I | Missense | 3/36 | - | 1 |
12-8976370-GTT-ATG | c.301_303delinsATG | p.V101M | Missense | 3/36 | - | 1 |
12-8976372-T-C | c.303T>C | p.V101= | Synonymous | 3/36 | - | 1 |
12-8976385-A-G | c.316A>G | p.S106G | Missense | 3/36 | - | 1 |
12-8976385-AG-CT | c.316_317inv | p.S106L | Missense | 3/36 | - | 1 |
12-8976388-T-C | c.319T>C | p.F107L | Missense | 3/36 | - | 2 |
12-8976390-T-A | c.321T>A | p.F107L | Missense | 3/36 | - | 2 |
12-8976390-T-G | c.321T>G | p.F107L | Missense | 3/36 | - | 2 |
12-8976389-T-C | c.320T>C | p.F107S | Missense | 3/36 | - | 1 |
12-8976389-T-G | c.320T>G | p.F107C | Missense | 3/36 | - | 1 |
12-8976393-G-C | c.324G>C | p.E108D | Missense | 3/36 | - | 1 |
12-8976393-G-T | c.324G>T | p.E108D | Missense | 3/36 | - | 1 |
12-8976394-G-A | c.325G>A | p.E109K | Missense | 3/36 | - | 8 |
12-8976394-G-C | c.325G>C | p.E109Q | Missense | 3/36 | - | 1 |
12-8976399-G-A | c.330G>A | p.K110= | Synonymous | 3/36 | - | 1 |
12-8976399-G-T | c.330G>T | p.K110N | Missense | 3/36 | - | 1 |
12-8976402-A-AT | c.333_334insT | p.K112* | Nonsense | 3/36 | - | 1 |
12-8976404-A-G | c.335A>G | p.K112R | Missense | 3/36 | - | 1 |
12-8976406-G-A | c.337G>A | p.V113I | Missense | 3/36 | - | 1 |
12-8976406-G-GT | c.339dup | p.L114Sfs*14 | Frameshift | 3/36 | - | 1 |
12-8976409-C-A | c.340C>A | p.L114I | Missense | 3/36 | - | 2 |
12-8976412-A-C | c.343A>C | p.I115L | Missense | 3/36 | - | 1 |
12-8976415-C-A | c.346C>A | p.Q116K | Missense | 3/36 | - | 1 |
12-8976415-C-T | c.346C>T | p.Q116* | Nonsense | 3/36 | - | 1 |
12-8976417-G-C | c.348G>C | p.Q116H | Missense | 3/36 | - | 2 |
12-8976417-G-T | c.348G>T | p.Q116H | Missense | 3/36 | - | 3 |
12-8976419-G-T | c.350G>T | p.R117M | Missense | 3/36 | - | 1 |
12-8976424-G-A | c.355G>A | p.G119R | Missense | 3/36 | - | 1 |
12-8976425-G-A | c.356G>A | p.G119E | Missense | 3/36 | - | 5 |
12-8976426-G-A | c.357G>A | p.G119= | Synonymous | 3/36 | - | 1 |
12-8976428-A-G | c.359A>G | p.N120S | Missense | 3/36 | - | 1 |
12-8976429-C-G | c.360C>G | p.N120K | Missense | 3/36 | - | 1 |
12-8976430-G-A | c.361G>A | p.G121S | Missense | 3/36 | - | 2 |
12-8976433-A-G | c.364A>G | p.T122A | Missense | 3/36 | - | 1 |
12-8976439-G-A | c.370G>A | p.V124I | Missense | 3/36 | - | 1 |
12-8976439-G-C | c.370G>C | p.V124L | Missense | 3/36 | - | 3 |
12-8976439-G-T | c.370G>T | p.V124L | Missense | 3/36 | - | 4 |
12-8976440-T-C | c.371T>C | p.V124A | Missense | 3/36 | - | 1 |
12-8976444-G-A | c.375G>A | p.Q125= | Synonymous | 3/36 | - | 3 |
12-8976444-G-T | c.375G>T | p.Q125H | Missense | 3/36 | - | 1 |
12-8976448-G-A | c.379G>A | p.D127N | Missense | 3/36 | - | 4 |
12-8976449-A-T | c.380A>T | p.D127V | Missense | 3/36 | - | 1 |
12-8976452-A-C | c.383A>C | p.K128T | Missense | 3/36 | - | 1 |
12-8976457-C-T | c.388C>T | p.L130F | Missense | 3/36 | - | 2 |
12-8976459-C-A | c.390C>A | p.L130= | Synonymous | 3/36 | - | 1 |
12-8976459-C-G | c.390C>G | p.L130= | Synonymous | 3/36 | - | 2 |
12-8976459-C-T | c.390C>T | p.L130= | Synonymous | 3/36 | - | 1 |
12-8976460-T-C | c.391T>C | p.Y131H | Missense | 3/36 | - | 1 |
12-8976462-C-T | c.393C>T | p.Y131= | Synonymous | 3/36 | - | 1 |
12-8976463-A-C | c.394A>C | p.T132P | Missense | 3/36 | - | 1 |
12-8976464-C-A | c.395C>A | p.T132N | Missense | 3/36 | - | 1 |
12-8976466-C-T | c.397C>T | p.P133S | Missense | 3/36 | - | 1 |
12-8976469-G-A | c.400G>A | p.G134R | Missense | 3/36 | - | 1 |
12-8976469-G-C | c.400G>C | p.G134R | Missense | 3/36 | - | 1 |
12-8976475-C-A | c.406C>A | p.Q136K | Missense | 3/36 | - | 1 |
12-8976476-A-G | c.407A>G | p.Q136R | Missense | 3/36 | - | 1 |
12-8976476-A-T | c.407A>T | p.Q136L | Missense | 3/36 | - | 1 |
12-8976478-G-A | c.409G>A | p.V137M | Missense | 3/36 | - | 3 |
12-8976482-A-T | c.409+4A>T | - | IntronicSNV | - | 3/35 | 1 |
12-8976503-G-A | c.409+25G>A | - | IntronicSNV | - | 3/35 | 1 |
12-8976503-G-C | c.409+25G>C | - | IntronicSNV | - | 3/35 | 1 |
12-8976764-A-G | c.409+286A>G | - | IntronicSNV | - | 3/35 | 1 |
12-8982272-A-AAAT | c.410-51_410-50insAAT | - | IntronicInsertion | - | 3/35 | 1 |
12-8982325-T-C | c.412T>C | p.Y138H | Missense | 4/36 | - | 1 |
12-8982328-T-C | c.415T>C | p.F139L | Missense | 4/36 | - | 1 |
12-8982330-C-A | c.417C>A | p.F139L | Missense | 4/36 | - | 1 |
12-8982330-C-G | c.417C>G | p.F139L | Missense | 4/36 | - | 1 |
12-8982330-C-T | c.417C>T | p.F139= | Synonymous | 4/36 | - | 2 |
12-8982331-C-T | c.418C>T | p.R140C | Missense | 4/36 | - | 3 |
12-8982332-G-A | c.419G>A | p.R140H | Missense | 4/36 | - | 2 |
12-8982332-GC-AA | c.419_420delinsAA | p.R140Q | Missense | 4/36 | - | 1 |
12-8982336-T-A | c.423T>A | p.I141= | Synonymous | 4/36 | - | 1 |
12-8982339-C-A | c.426C>A | p.V142= | Synonymous | 4/36 | - | 1 |
12-8982339-C-G | c.426C>G | p.V142= | Synonymous | 4/36 | - | 1 |
12-8982339-C-T | c.426C>T | p.V142= | Synonymous | 4/36 | - | 2 |
12-8982344-T-C | c.431T>C | p.M144T | Missense | 4/36 | - | 1 |
12-8982344-T-G | c.431T>G | p.M144R | Missense | 4/36 | - | 2 |
12-8982345-G-A | c.432G>A | p.M144I | Missense | 4/36 | - | 1 |
12-8982345-GG-AA | c.432_433delinsAA | p.M144_D145delinsIN | MultiAAMissense | 4/36 | - | 1 |
12-8982346-G-A | c.433G>A | p.D145N | Missense | 4/36 | - | 1 |
12-8982347-A-T | c.434A>T | p.D145V | Missense | 4/36 | - | 2 |
12-8982348-T-G | c.435T>G | p.D145E | Missense | 4/36 | - | 1 |
12-8982349-AG-TA | c.436_437delinsTA | p.S146Y | Missense | 4/36 | - | 1 |
12-8982349-AG-TT | c.436_437delinsTT | p.S146F | Missense | 4/36 | - | 1 |
12-8982350-G-A | c.437G>A | p.S146N | Missense | 4/36 | - | 1 |
12-8982351-GC-G | c.438del | p.S146Rfs*6 | Frameshift | 4/36 | - | 1 |
12-8982357-C-A | c.444C>A | p.F148L | Missense | 4/36 | - | 3 |
12-8982357-C-T | c.444C>T | p.F148= | Synonymous | 4/36 | - | 5 |
12-8982358-G-A | c.445G>A | p.V149I | Missense | 4/36 | - | 2 |
12-8982361-C-A | c.448C>A | p.P150T | Missense | 4/36 | - | 1 |
12-8982371-A-T | c.458A>T | p.D153V | Missense | 4/36 | - | 1 |
12-8982372-C-T | c.459C>T | p.D153= | Synonymous | 4/36 | - | 1 |
12-8982378-G-A | c.462+3G>A | - | IntronicSNV | - | 4/35 | 1 |
12-8982383-G-A | c.462+8G>A | - | IntronicSNV | - | 4/35 | 1 |
12-8982396-G-A | c.462+21G>A | - | IntronicSNV | - | 4/35 | 1 |
12-8986379-A-G | c.463-879A>G | - | IntronicSNV | - | 4/35 | 1 |
12-8987262-C-T | c.467C>T | p.S156F | Missense | 5/36 | - | 1 |
12-8987265-T-C | c.470T>C | p.M157T | Missense | 5/36 | - | 2 |
12-8987266-G-A | c.471G>A | p.M157I | Missense | 5/36 | - | 1 |
12-8987266-G-C | c.471G>C | p.M157I | Missense | 5/36 | - | 1 |
12-8987266-G-T | c.471G>T | p.M157I | Missense | 5/36 | - | 1 |
12-8987275-A-T | c.480A>T | p.L160= | Synonymous | 5/36 | - | 1 |
12-8987276-C-A | c.481C>A | p.Q161K | Missense | 5/36 | - | 1 |
12-8987276-C-T | c.481C>T | p.Q161* | Nonsense | 5/36 | - | 1 |
12-8987278-G-A | c.483G>A | p.Q161= | Synonymous | 5/36 | - | 1 |
12-8987278-G-C | c.483G>C | p.Q161H | Missense | 5/36 | - | 1 |
12-8987278-G-T | c.483G>T | p.Q161H | Missense | 5/36 | - | 2 |
12-8987285-G-A | c.483+7G>A | - | IntronicSNV | - | 5/35 | 5 |
12-8987286-G-T | c.483+8G>T | - | IntronicSNV | - | 5/35 | 1 |
12-8987315-G-A | c.483+37G>A | - | IntronicSNV | - | 5/35 | 1 |
12-8987324-A-C | c.483+46A>C | - | IntronicSNV | - | 5/35 | 1 |
12-8987417-A-G | c.483+139A>G | - | IntronicSNV | - | 5/35 | 1 |
12-8987550-T-A | c.483+272T>A | - | IntronicSNV | - | 5/35 | 2 |
12-8987550-T-C | c.483+272T>C | - | IntronicSNV | - | 5/35 | 3 |
12-8988103-G-C | c.484G>C | p.D162H | Missense | 6/36 | - | 1 |
12-8988106-C-T | c.487C>T | p.P163S | Missense | 6/36 | - | 1 |
12-8988107-C-T | c.488C>T | p.P163L | Missense | 6/36 | - | 1 |
12-8988109-A-C | c.490A>C | p.N164H | Missense | 6/36 | - | 2 |
12-8988111-T-A | c.492T>A | p.N164K | Missense | 6/36 | - | 2 |
12-8988111-T-C | c.492T>C | p.N164= | Synonymous | 6/36 | - | 1 |
12-8988111-T-G | c.492T>G | p.N164K | Missense | 6/36 | - | 1 |
12-8988112-A-T | c.493A>T | p.S165C | Missense | 6/36 | - | 1 |
12-8988113-G-A | c.494G>A | p.S165N | Missense | 6/36 | - | 1 |
12-8988116-A-G | c.497A>G | p.N166S | Missense | 6/36 | - | 5 |
12-8988118-AG-CA | c.499_500delinsCA | p.R167Q | Missense | 6/36 | - | 1 |
12-8988120-G-A | c.501G>A | p.R167= | Synonymous | 6/36 | - | 3 |
12-8988122-T-C | c.503T>C | p.I168T | Missense | 6/36 | - | 1 |
12-8988128-A-C | c.509A>C | p.Q170P | Missense | 6/36 | - | 1 |
12-8988132-G-T | c.513G>T | p.W171C | Missense | 6/36 | - | 1 |
12-8988134-T-C | c.515T>C | p.L172P | Missense | 6/36 | - | 1 |
12-8988135-G-A | c.516G>A | p.L172= | Synonymous | 6/36 | - | 2 |
12-8988136-G-A | c.517G>A | p.E173K | Missense | 6/36 | - | 3 |
12-8988138-A-C | c.519A>C | p.E173D | Missense | 6/36 | - | 1 |
12-8988139-G-A | c.520G>A | p.V174M | Missense | 6/36 | - | 1 |
12-8988145-C-A | c.526C>A | p.P176T | Missense | 6/36 | - | 1 |
12-8988145-C-T | c.526C>T | p.P176S | Missense | 6/36 | - | 2 |
12-8988148-G-A | c.529G>A | p.E177K | Missense | 6/36 | - | 1 |
12-8988154-G-A | c.535G>A | p.G179S | Missense | 6/36 | - | 2 |
12-8988158-T-C | c.539T>C | p.I180T | Missense | 6/36 | - | 1 |
12-8988160-G-A | c.541G>A | p.V181I | Missense | 6/36 | - | 1 |
12-8988161-T-A | c.542T>A | p.V181E | Missense | 6/36 | - | 1 |
12-8988162-A-T | c.543A>T | p.V181= | Synonymous | 6/36 | - | 1 |
12-8988171-C-T | c.552C>T | p.S184= | Synonymous | 6/36 | - | 1 |
12-8988178-C-G | c.559C>G | p.L187V | Missense | 6/36 | - | 2 |
12-8988182-C-G | c.563C>G | p.A188G | Missense | 6/36 | - | 1 |
12-8988184-C-T | c.565C>T | p.P189S | Missense | 6/36 | - | 1 |
12-8988187-G-A | c.568G>A | p.E190K | Missense | 6/36 | - | 7 |
12-8988188-A-T | c.569A>T | p.E190V | Missense | 6/36 | - | 1 |
12-8988193-A-G | c.574A>G | p.M192V | Missense | 6/36 | - | 1 |
12-8988200-G-A | c.581G>A | p.G194D | Missense | 6/36 | - | 1 |
12-8988202-A-G | c.583A>G | p.T195A | Missense | 6/36 | - | 1 |
12-8988202-A-T | c.583A>T | p.T195S | Missense | 6/36 | - | 1 |
12-8988209-C-T | c.590C>T | p.T197I | Missense | 6/36 | - | 2 |
12-8988214-G-T | c.595G>T | p.A199S | Missense | 6/36 | - | 1 |
12-8988221-C-T | c.602C>T | p.A201V | Missense | 6/36 | - | 1 |
12-8988222-T-A | c.603T>A | p.A201= | Synonymous | 6/36 | - | 1 |
12-8988222-T-C | c.603T>C | p.A201= | Synonymous | 6/36 | - | 2 |
12-8988222-T-G | c.603T>G | p.A201= | Synonymous | 6/36 | - | 1 |
12-8988223-G-A | c.604G>A | p.E202K | Missense | 6/36 | - | 2 |
12-8988224-A-G | c.605A>G | p.E202G | Missense | 6/36 | - | 1 |
12-8988226-G-T | c.607G>T | p.G203C | Missense | 6/36 | - | 1 |
12-8988228-C-A | c.609C>A | p.G203= | Synonymous | 6/36 | - | 1 |
12-8988228-C-G | c.609C>G | p.G203= | Synonymous | 6/36 | - | 1 |
12-8988228-C-T | c.609C>T | p.G203= | Synonymous | 6/36 | - | 1 |
12-8988229-A-C | c.610A>C | p.K204Q | Missense | 6/36 | - | 1 |
12-8988232-A-G | c.613A>G | p.T205A | Missense | 6/36 | - | 1 |
12-8988233-C-G | c.614C>G | p.T205S | Missense | 6/36 | - | 1 |
12-8988234-C-T | c.615C>T | p.T205= | Synonymous | 6/36 | - | 1 |
12-8988238-G-C | c.619G>C | p.G207R | Missense | 6/36 | - | 3 |
12-8988238-G-T | c.619G>T | p.G207C | Missense | 6/36 | - | 2 |
12-8988239-G-A | c.620G>A | p.G207D | Missense | 6/36 | - | 2 |
12-8988240-T-A | c.621T>A | p.G207= | Synonymous | 6/36 | - | 2 |
12-8988240-T-C | c.621T>C | p.G207= | Synonymous | 6/36 | - | 2 |
12-8988240-T-G | c.621T>G | p.G207= | Synonymous | 6/36 | - | 2 |
12-8988242-C-T | c.623C>T | p.T208I | Missense | 6/36 | - | 1 |
12-8988243-T-A | c.624T>A | p.T208= | Synonymous | 6/36 | - | 1 |
12-8988246-C-T | c.627C>T | p.F209= | Synonymous | 6/36 | - | 1 |
12-8988251-T-G | c.632T>G | p.V211G | Missense | 6/36 | - | 1 |
12-8988254-A-G | c.635A>G | p.E212G | Missense | 6/36 | - | 1 |
12-8988255-G-C | c.636G>C | p.E212D | Missense | 6/36 | - | 1 |
12-8988255-G-T | c.636G>T | p.E212D | Missense | 6/36 | - | 1 |
12-8988256-G-A | c.637G>A | p.E213K | Missense | 6/36 | - | 2 |
12-8988256-G-T | c.637G>T | p.E213* | Nonsense | 6/36 | - | 1 |
12-8988261-T-C | c.642T>C | p.Y214= | Synonymous | 6/36 | - | 1 |
12-8988306-A-C | c.643+44A>C | - | IntronicSNV | - | 6/35 | 1 |
12-8988403-A-C | c.643+141A>C | - | IntronicSNV | - | 6/35 | 4 |
12-8988403-A-T | c.643+141A>T | - | IntronicSNV | - | 6/35 | 2 |
12-8988542-C-G | c.643+280C>G | - | IntronicSNV | - | 6/35 | 1 |
12-8988542-C-T | c.643+280C>T | - | IntronicSNV | - | 6/35 | 1 |
12-8988777-A-G | c.644-74A>G | - | IntronicSNV | - | 6/35 | 5 |
12-8988856-C-G | c.649C>G | p.P217A | Missense | 7/36 | - | 1 |
12-8988857-C-G | c.650C>G | p.P217R | Missense | 7/36 | - | 1 |
12-8988857-C-T | c.650C>T | p.P217L | Missense | 7/36 | - | 3 |
12-8988858-G-A | c.651G>A | p.P217= | Synonymous | 7/36 | - | 3 |
12-8988858-G-C | c.651G>C | p.P217= | Synonymous | 7/36 | - | 2 |
12-8988858-G-T | c.651G>T | p.P217= | Synonymous | 7/36 | - | 2 |
12-8988860-A-C | c.653A>C | p.K218T | Missense | 7/36 | - | 2 |
12-8988862-T-C | c.655T>C | p.F219L | Missense | 7/36 | - | 1 |
12-8988864-T-A | c.657T>A | p.F219L | Missense | 7/36 | - | 1 |
12-8988864-T-G | c.657T>G | p.F219L | Missense | 7/36 | - | 1 |
12-8988871-G-A | c.664G>A | p.E222K | Missense | 7/36 | - | 1 |
12-8988877-G-A | c.670G>A | p.V224M | Missense | 7/36 | - | 1 |
12-8988878-T-C | c.671T>C | p.V224A | Missense | 7/36 | - | 1 |
12-8988882-A-G | c.675A>G | p.E225= | Synonymous | 7/36 | - | 2 |
12-8988885-C-A | c.678C>A | p.P226= | Synonymous | 7/36 | - | 1 |
12-8988885-C-G | c.678C>G | p.P226= | Synonymous | 7/36 | - | 1 |
12-8988885-C-T | c.678C>T | p.P226= | Synonymous | 7/36 | - | 1 |
12-8988887-A-G | c.680A>G | p.K227R | Missense | 7/36 | - | 1 |
12-8988888-G-A | c.681G>A | p.K227= | Synonymous | 7/36 | - | 1 |
12-8988891-G-C | c.684G>C | p.E228D | Missense | 7/36 | - | 1 |
12-8988891-G-T | c.684G>T | p.E228D | Missense | 7/36 | - | 1 |
12-8988894-A-C | c.687A>C | p.L229F | Missense | 7/36 | - | 1 |
12-8988894-A-T | c.687A>T | p.L229F | Missense | 7/36 | - | 1 |
12-8988896-C-A | c.689C>A | p.S230* | Nonsense | 7/36 | - | 1 |
12-8988896-C-G | c.689C>G | p.S230* | Nonsense | 7/36 | - | 1 |
12-8988897-A-C | c.690A>C | p.S230= | Synonymous | 7/36 | - | 1 |
12-8988897-A-G | c.690A>G | p.S230= | Synonymous | 7/36 | - | 1 |
12-8988897-A-T | c.690A>T | p.S230= | Synonymous | 7/36 | - | 1 |
12-8988898-A-C | c.691A>C | p.T231P | Missense | 7/36 | - | 2 |
12-8988900-G-A | c.693G>A | p.T231= | Synonymous | 7/36 | - | 1 |
12-8988900-G-C | c.693G>C | p.T231= | Synonymous | 7/36 | - | 1 |
12-8988900-G-T | c.693G>T | p.T231= | Synonymous | 7/36 | - | 1 |
12-8988906-G-A | c.699G>A | p.Q233= | Synonymous | 7/36 | - | 1 |
12-8988906-G-C | c.699G>C | p.Q233H | Missense | 7/36 | - | 2 |
12-8988906-G-T | c.699G>T | p.Q233H | Missense | 7/36 | - | 1 |
12-8988907-G-A | c.700G>A | p.E234K | Missense | 7/36 | - | 3 |
12-8988908-A-G | c.701A>G | p.E234G | Missense | 7/36 | - | 1 |
12-8988919-G-A | c.712G>A | p.V238I | Missense | 7/36 | - | 1 |
12-8988927-T-A | c.720T>A | p.I240= | Synonymous | 7/36 | - | 1 |
12-8988927-T-C | c.720T>C | p.I240= | Synonymous | 7/36 | - | 1 |
12-8988928-T-G | c.721T>G | p.C241G | Missense | 7/36 | - | 1 |
12-8988934-AG-TA | c.727_728delinsTA | p.R243* | Nonsense | 7/36 | - | 1 |
12-8988996-G-A | c.728+61G>A | - | IntronicSNV | - | 7/35 | 1 |
12-8989077-CT-C | c.728+161del | - | IntronicDeletion | - | 7/35 | 1 |
12-8989272-A-G | c.728+337A>G | - | IntronicSNV | - | 7/35 | 1 |
12-8989916-A-C | c.729-120A>C | - | IntronicSNV | - | 7/35 | 7 |
12-8989916-A-G | c.729-120A>G | - | IntronicSNV | - | 7/35 | 7 |
12-8990039-C-T | c.732C>T | p.Y244= | Synonymous | 8/36 | - | 1 |
12-8990043-T-A | c.736T>A | p.Y246N | Missense | 8/36 | - | 1 |
12-8990044-A-T | c.737A>T | p.Y246F | Missense | 8/36 | - | 1 |
12-8990046-G-A | c.739G>A | p.G247R | Missense | 8/36 | - | 1 |
12-8990046-G-C | c.739G>C | p.G247R | Missense | 8/36 | - | 1 |
12-8990047-GA-AC | c.740_741delinsAC | p.G247D | Missense | 8/36 | - | 1 |
12-8990049-A-C | c.742A>C | p.K248Q | Missense | 8/36 | - | 1 |
12-8990051-G-C | c.744G>C | p.K248N | Missense | 8/36 | - | 1 |
12-8990052-C-G | c.745C>G | p.P249A | Missense | 8/36 | - | 1 |
12-8990053-C-A | c.746C>A | p.P249H | Missense | 8/36 | - | 1 |
12-8990063-G-A | c.756G>A | p.G252= | Synonymous | 8/36 | - | 2 |
12-8990063-G-C | c.756G>C | p.G252= | Synonymous | 8/36 | - | 2 |
12-8990063-G-T | c.756G>T | p.G252= | Synonymous | 8/36 | - | 2 |
12-8990060-AG-A | c.757del | p.A253Qfs*90 | Frameshift | 8/36 | - | 1 |
12-8990067-G-C | c.760G>C | p.V254L | Missense | 8/36 | - | 1 |
12-8990070-C-T | c.763C>T | p.Q255* | Nonsense | 8/36 | - | 2 |
12-8990071-A-C | c.764A>C | p.Q255P | Missense | 8/36 | - | 1 |
12-8990072-G-T | c.765G>T | p.Q255H | Missense | 8/36 | - | 2 |
12-8990073-G-A | c.766G>A | p.V256I | Missense | 8/36 | - | 3 |
12-8990080-T-C | c.773T>C | p.V258A | Missense | 8/36 | - | 1 |
12-8990092-C-T | c.785C>T | p.A262V | Missense | 8/36 | - | 1 |
12-8990094-A-C | c.787A>C | p.N263H | Missense | 8/36 | - | 2 |
12-8990095-A-G | c.788A>G | p.N263S | Missense | 8/36 | - | 1 |
12-8990097-AC-GG | c.790_791delinsGG | p.T264G | Missense | 8/36 | - | 1 |
12-8990097-A-T | c.790A>T | p.T264S | Missense | 8/36 | - | 1 |
12-8990098-AC-A | c.791del | p.T264Ifs*79 | Frameshift | 8/36 | - | 1 |
12-8990098-C-T | c.791C>T | p.T264I | Missense | 8/36 | - | 1 |
12-8990100-T-C | c.793T>C | p.Y265H | Missense | 8/36 | - | 1 |
12-8990101-A-G | c.794A>G | p.Y265C | Missense | 8/36 | - | 1 |
12-8990102-C-A | c.795C>A | p.Y265* | Nonsense | 8/36 | - | 1 |
12-8990102-C-G | c.795C>G | p.Y265* | Nonsense | 8/36 | - | 1 |
12-8990103-T-C | c.796T>C | p.W266R | Missense | 8/36 | - | 1 |
12-8990105-G-A | c.798G>A | p.W266* | Nonsense | 8/36 | - | 1 |
12-8990109-CG-AA | c.802_803delinsAA | p.R268K | Missense | 8/36 | - | 1 |
12-8990109-C-T | c.802C>T | p.R268* | Nonsense | 8/36 | - | 6 |
12-8990110-G-A | c.803G>A | p.R268Q | Missense | 8/36 | - | 8 |
12-8990110-G-T | c.803G>T | p.R268L | Missense | 8/36 | - | 1 |
12-8990111-A-G | c.804A>G | p.R268= | Synonymous | 8/36 | - | 1 |
12-8990118-G-C | c.811G>C | p.E271Q | Missense | 8/36 | - | 1 |
12-8990121-C-T | c.814C>T | p.R272W | Missense | 8/36 | - | 6 |
12-8990122-G-A | c.815G>A | p.R272Q | Missense | 8/36 | - | 5 |
12-8990123-G-A | c.816G>A | p.R272= | Synonymous | 8/36 | - | 2 |
12-8990127-C-T | c.820C>T | p.Q274* | Nonsense | 8/36 | - | 1 |
12-8990131-T-C | c.824T>C | p.L275P | Missense | 8/36 | - | 1 |
12-8990133-C-T | c.826C>T | p.P276S | Missense | 8/36 | - | 2 |
12-8990137-A-G | c.830A>G | p.D277G | Missense | 8/36 | - | 1 |
12-8990140-A-G | c.833A>G | p.K278R | Missense | 8/36 | - | 2 |
12-8990145-AG-CA | c.838_839delinsCA | p.R280Q | Missense | 8/36 | - | 1 |
12-8990146-G-T | c.839G>T | p.R280M | Missense | 8/36 | - | 1 |
12-8990151-C-A | c.844C>A | p.L282I | Missense | 8/36 | - | 1 |
12-8990155-C-A | c.848C>A | p.S283Y | Missense | 8/36 | - | 1 |
12-8990158-G-C | c.851G>C | p.G284A | Missense | 8/36 | - | 1 |
12-8990162-G-A | c.855G>A | p.Q285= | Synonymous | 8/36 | - | 1 |
12-8990162-G-C | c.855G>C | p.Q285H | Missense | 8/36 | - | 1 |
12-8990162-G-T | c.855G>T | p.Q285H | Missense | 8/36 | - | 1 |
12-8990163-G-A | c.855+1G>A | - | IntronicSNV | - | 8/35 | 2 |
12-8990164-T-A | c.855+2T>A | - | IntronicSNV | - | 8/35 | 1 |
12-8990171-A-G | c.855+9A>G | - | IntronicSNV | - | 8/35 | 1 |
12-8990210-G-C | c.855+48G>C | - | IntronicSNV | - | 8/35 | 1 |
12-8990813-A-G | c.856-119A>G | - | IntronicSNV | - | 8/35 | 4 |
12-8990935-G-A | c.859G>A | p.D287N | Missense | 9/36 | - | 2 |
12-8990936-A-G | c.860A>G | p.D287G | Missense | 9/36 | - | 3 |
12-8990937-C-A | c.861C>A | p.D287E | Missense | 9/36 | - | 10 |
12-8990937-C-G | c.861C>G | p.D287E | Missense | 9/36 | - | 2 |
12-8990939-A-G | c.863A>G | p.K288R | Missense | 9/36 | - | 1 |
12-8990940-A-G | c.864A>G | p.K288= | Synonymous | 9/36 | - | 1 |
12-8990941-AC-GG | c.865_866delinsGG | p.T289G | Missense | 9/36 | - | 1 |
12-8990943-A-C | c.867A>C | p.T289= | Synonymous | 9/36 | - | 1 |
12-8990943-A-G | c.867A>G | p.T289= | Synonymous | 9/36 | - | 1 |
12-8990943-A-T | c.867A>T | p.T289= | Synonymous | 9/36 | - | 1 |
12-8990947-T-G | c.871T>G | p.C291G | Missense | 9/36 | - | 1 |
12-8990948-G-A | c.872G>A | p.C291Y | Missense | 9/36 | - | 1 |
12-8990953-TC-GG | c.877_878delinsGG | p.S293G | Missense | 9/36 | - | 1 |
12-8990955-A-C | c.879A>C | p.S293= | Synonymous | 9/36 | - | 1 |
12-8990955-A-G | c.879A>G | p.S293= | Synonymous | 9/36 | - | 1 |
12-8990955-A-T | c.879A>T | p.S293= | Synonymous | 9/36 | - | 1 |
12-8990957-C-T | c.881C>T | p.A294V | Missense | 9/36 | - | 1 |
12-8990958-A-C | c.882A>C | p.A294= | Synonymous | 9/36 | - | 1 |
12-8990958-A-G | c.882A>G | p.A294= | Synonymous | 9/36 | - | 1 |
12-8990958-A-T | c.882A>T | p.A294= | Synonymous | 9/36 | - | 1 |
12-8990963-T-C | c.887T>C | p.V296A | Missense | 9/36 | - | 6 |
12-8990968-A-G | c.892A>G | p.M298V | Missense | 9/36 | - | 1 |
12-8990969-T-A | c.893T>A | p.M298K | Missense | 9/36 | - | 6 |
12-8990970-G-A | c.894G>A | p.M298I | Missense | 9/36 | - | 1 |
12-8990970-G-T | c.894G>T | p.M298I | Missense | 9/36 | - | 1 |
12-8990973-C-T | c.897C>T | p.A299= | Synonymous | 9/36 | - | 1 |
12-8990976-C-A | c.900C>A | p.T300= | Synonymous | 9/36 | - | 4 |
12-8990976-C-G | c.900C>G | p.T300= | Synonymous | 9/36 | - | 3 |
12-8990976-C-T | c.900C>T | p.T300= | Synonymous | 9/36 | - | 5 |
12-8990980-G-A | c.904G>A | p.D302N | Missense | 9/36 | - | 1 |
12-8990980-G-T | c.904G>T | p.D302Y | Missense | 9/36 | - | 4 |
12-8990982-C-T | c.906C>T | p.D302= | Synonymous | 9/36 | - | 1 |
12-8990983-C-G | c.907C>G | p.L303V | Missense | 9/36 | - | 4 |
12-8990984-T-C | c.908T>C | p.L303P | Missense | 9/36 | - | 1 |
12-8990986-A-G | c.910A>G | p.I304V | Missense | 9/36 | - | 1 |
12-8990990-G-A | c.914G>A | p.G305E | Missense | 9/36 | - | 4 |
12-8990990-G-C | c.914G>C | p.G305A | Missense | 9/36 | - | 1 |
12-8990990-G-T | c.914G>T | p.G305V | Missense | 9/36 | - | 1 |
12-8990996-C-T | c.920C>T | p.A307V | Missense | 9/36 | - | 1 |
12-8990997-G-A | c.921G>A | p.A307= | Synonymous | 9/36 | - | 3 |
12-8990997-G-C | c.921G>C | p.A307= | Synonymous | 9/36 | - | 1 |
12-8990997-G-T | c.921G>T | p.A307= | Synonymous | 9/36 | - | 1 |
12-8990998-T-C | c.922T>C | p.Y308H | Missense | 9/36 | - | 2 |
12-8990999-A-G | c.923A>G | p.Y308C | Missense | 9/36 | - | 3 |
12-8991002-G-A | c.926G>A | p.S309N | Missense | 9/36 | - | 1 |
12-8991008-A-G | c.932A>G | p.Q311R | Missense | 9/36 | - | 1 |
12-8991007-C-CA | c.934dup | p.I312Nfs*34 | Frameshift | 9/36 | - | 1 |
12-8991012-C-A | c.936C>A | p.I312= | Synonymous | 9/36 | - | 1 |
12-8991012-C-T | c.936C>T | p.I312= | Synonymous | 9/36 | - | 1 |
12-8991026-C-T | c.950C>T | p.T317I | Missense | 9/36 | - | 2 |
12-8991031-G-A | c.955G>A | p.V319M | Missense | 9/36 | - | 1 |
12-8991040-G-A | c.964G>A | p.G322R | Missense | 9/36 | - | 2 |
12-8991040-G-C | c.964G>C | p.G322R | Missense | 9/36 | - | 1 |
12-8991086-G-A | c.970+40G>A | - | IntronicSNV | - | 9/35 | 1 |
12-8991246-C-T | c.970+200C>T | - | IntronicSNV | - | 9/35 | 2 |
12-8991714-G-T | c.976G>T | p.E326* | Nonsense | 10/36 | - | 1 |
12-8991715-A-T | c.977A>T | p.E326V | Missense | 10/36 | - | 1 |
12-8991716-G-C | c.978G>C | p.E326D | Missense | 10/36 | - | 1 |
12-8991716-G-T | c.978G>T | p.E326D | Missense | 10/36 | - | 1 |
12-8991718-C-T | c.980C>T | p.A327V | Missense | 10/36 | - | 2 |
12-8991724-C-T | c.986C>T | p.A329V | Missense | 10/36 | - | 4 |
12-8991730-A-G | c.992A>G | p.Q331R | Missense | 10/36 | - | 1 |
12-8991734-T-C | c.996T>C | p.N332= | Synonymous | 10/36 | - | 2 |
12-8991737-C-A | c.999C>A | p.I333= | Synonymous | 10/36 | - | 1 |
12-8991737-C-T | c.999C>T | p.I333= | Synonymous | 10/36 | - | 1 |
12-8991738-T-G | c.1000T>G | p.Y334D | Missense | 10/36 | - | 1 |
12-8991739-A-G | c.1001A>G | p.Y334C | Missense | 10/36 | - | 1 |
12-8991742-T-C | c.1004T>C | p.I335T | Missense | 10/36 | - | 1 |
12-8991751-A-T | c.1013A>T | p.Q338L | Missense | 10/36 | - | 1 |
12-8991753-A-G | c.1015A>G | p.M339V | Missense | 10/36 | - | 1 |
12-8991755-G-A | c.1017G>A | p.M339I | Missense | 10/36 | - | 5 |
12-8991755-G-C | c.1017G>C | p.M339I | Missense | 10/36 | - | 2 |
12-8991755-G-T | c.1017G>T | p.M339I | Missense | 10/36 | - | 2 |
12-8991759-T-A | c.1021T>A | p.S341T | Missense | 10/36 | - | 1 |
12-8991761-A-C | c.1023A>C | p.S341= | Synonymous | 10/36 | - | 1 |
12-8991761-A-G | c.1023A>G | p.S341= | Synonymous | 10/36 | - | 1 |
12-8991761-A-T | c.1023A>T | p.S341= | Synonymous | 10/36 | - | 1 |
12-8991762-A-G | c.1024A>G | p.M342V | Missense | 10/36 | - | 2 |
12-8991763-T-C | c.1025T>C | p.M342T | Missense | 10/36 | - | 1 |
12-8991767-C-A | c.1029C>A | p.T343= | Synonymous | 10/36 | - | 1 |
12-8991774-G-A | c.1036G>A | p.D346N | Missense | 10/36 | - | 1 |
12-8991777-A-T | c.1039A>T | p.T347S | Missense | 10/36 | - | 1 |
12-8991778-C-G | c.1040C>G | p.T347S | Missense | 10/36 | - | 1 |
12-8991789-T-C | c.1051T>C | p.Y351H | Missense | 10/36 | - | 1 |
12-8991790-A-G | c.1052A>G | p.Y351C | Missense | 10/36 | - | 1 |
12-8991795-C-T | c.1057C>T | p.P353S | Missense | 10/36 | - | 1 |
12-8991796-C-G | c.1058C>G | p.P353R | Missense | 10/36 | - | 2 |
12-8991796-C-T | c.1058C>T | p.P353L | Missense | 10/36 | - | 1 |
12-8991798-A-G | c.1060A>G | p.N354D | Missense | 10/36 | - | 1 |
12-8991802-T-A | c.1064T>A | p.F355Y | Missense | 10/36 | - | 1 |
12-8991803-C-T | c.1065C>T | p.F355= | Synonymous | 10/36 | - | 1 |
12-8991804-C-T | c.1066C>T | p.P356S | Missense | 10/36 | - | 4 |
12-8991805-C-G | c.1067C>G | p.P356R | Missense | 10/36 | - | 5 |
12-8991805-C-T | c.1067C>T | p.P356L | Missense | 10/36 | - | 3 |
12-8991814-G-C | c.1076G>C | p.G359A | Missense | 10/36 | - | 1 |
12-8991815-G-A | c.1077G>A | p.G359= | Synonymous | 10/36 | - | 3 |
12-8991825-TA-T | c.1080+11del | - | IntronicDeletion | - | 10/35 | 1 |
12-8991970-G-A | c.1080+152G>A | - | IntronicSNV | - | 10/35 | 3 |
12-8991998-C-A | c.1080+180C>A | - | IntronicSNV | - | 10/35 | 3 |
12-8993609-C-A | c.1081-356C>A | - | IntronicSNV | - | 10/35 | 1 |
12-8993609-C-T | c.1081-356C>T | - | IntronicSNV | - | 10/35 | 1 |
12-8993617-A-AGGAC | c.1081-345_1081-344insCGGA | - | IntronicInsertion | - | 10/35 | 1 |
12-8993617-A-AGGACGGAC | c.1081-345_1081-344insCGGACGGA | - | IntronicInsertion | - | 10/35 | 1 |
12-8993617-A-AGGACGGACGGAC | c.1081-345_1081-344insCGGACGGACGGA | - | IntronicInsertion | - | 10/35 | 1 |
12-8993617-A-AGGATGGAC | c.1081-345_1081-344insTGGACGGA | - | IntronicInsertion | - | 10/35 | 1 |
12-8993968-AG-CA | c.1084_1085delinsCA | p.R362Q | Missense | 11/36 | - | 1 |
12-8993969-G-T | c.1085G>T | p.R362I | Missense | 11/36 | - | 2 |
12-8993974-A-G | c.1090A>G | p.R364G | Missense | 11/36 | - | 2 |
12-8993981-A-T | c.1097A>T | p.H366L | Missense | 11/36 | - | 1 |
12-8993985-T-A | c.1101T>A | p.D367E | Missense | 11/36 | - | 1 |
12-8993985-T-C | c.1101T>C | p.D367= | Synonymous | 11/36 | - | 1 |
12-8993987-A-T | c.1103A>T | p.D368V | Missense | 11/36 | - | 1 |
12-8993993-T-C | c.1109T>C | p.F370S | Missense | 11/36 | - | 4 |
12-8993994-CC-TT | c.1110_1111delinsTT | p.L371F | Missense | 11/36 | - | 1 |
12-8993995-C-T | c.1111C>T | p.L371F | Missense | 11/36 | - | 5 |
12-8994000-G-C | c.1116G>C | p.K372N | Missense | 11/36 | - | 3 |
12-8994000-G-T | c.1116G>T | p.K372N | Missense | 11/36 | - | 3 |
12-8994001-A-G | c.1117A>G | p.N373D | Missense | 11/36 | - | 1 |
12-8994005-A-G | c.1121A>G | p.H374R | Missense | 11/36 | - | 1 |
12-8994024-T-C | c.1140T>C | p.I380= | Synonymous | 11/36 | - | 1 |
12-8994024-T-G | c.1140T>G | p.I380M | Missense | 11/36 | - | 4 |
12-8994028-G-C | c.1144G>C | p.G382R | Missense | 11/36 | - | 1 |
12-8994032-CA-TG | c.1148_1149inv | p.T383M | Missense | 11/36 | - | 1 |
12-8994035-A-C | c.1151A>C | p.N384T | Missense | 11/36 | - | 1 |
12-8994037-G-A | c.1153G>A | p.G385R | Missense | 11/36 | - | 2 |
12-8994037-G-C | c.1153G>C | p.G385R | Missense | 11/36 | - | 2 |
12-8994038-G-A | c.1154G>A | p.G385E | Missense | 11/36 | - | 5 |
12-8994038-G-C | c.1154G>C | p.G385A | Missense | 11/36 | - | 1 |
12-8994040-A-G | c.1156A>G | p.T386A | Missense | 11/36 | - | 2 |
12-8994041-C-T | c.1157C>T | p.T386I | Missense | 11/36 | - | 1 |
12-8994042-C-A | c.1158C>A | p.T386= | Synonymous | 11/36 | - | 1 |
12-8994042-C-G | c.1158C>G | p.T386= | Synonymous | 11/36 | - | 1 |
12-8994042-C-T | c.1158C>T | p.T386= | Synonymous | 11/36 | - | 1 |
12-8994045-C-T | c.1161C>T | p.F387= | Synonymous | 11/36 | - | 1 |
12-8994047-A-G | c.1163A>G | p.N388S | Missense | 11/36 | - | 3 |
12-8994048-C-A | c.1164C>A | p.N388K | Missense | 11/36 | - | 1 |
12-8994048-C-G | c.1164C>G | p.N388K | Missense | 11/36 | - | 1 |
12-8994048-C-T | c.1164C>T | p.N388= | Synonymous | 11/36 | - | 2 |
12-8994049-C-A | c.1165C>A | p.Q389K | Missense | 11/36 | - | 4 |
12-8994053-C-T | c.1169C>T | p.T390I | Missense | 11/36 | - | 1 |
12-8994057-G-A | c.1173G>A | p.L391= | Synonymous | 11/36 | - | 2 |
12-8994057-G-C | c.1173G>C | p.L391= | Synonymous | 11/36 | - | 1 |
12-8994057-GG-AA | c.1173_1174delinsAA | p.V392I | Missense | 11/36 | - | 1 |
12-8994057-G-T | c.1173G>T | p.L391= | Synonymous | 11/36 | - | 1 |
12-8994058-G-A | c.1174G>A | p.V392I | Missense | 11/36 | - | 3 |
12-8994058-G-C | c.1174G>C | p.V392L | Missense | 11/36 | - | 1 |
12-8994064-G-A | c.1180G>A | p.D394N | Missense | 11/36 | - | 3 |
12-8994069-C-T | c.1185C>T | p.N395= | Synonymous | 11/36 | - | 1 |
12-8994073-G-A | c.1189G>A | p.G397S | Missense | 11/36 | - | 1 |
12-8994074-G-C | c.1190G>C | p.G397A | Missense | 11/36 | - | 1 |
12-8994079-G-T | c.1195G>T | p.A399S | Missense | 11/36 | - | 1 |
12-8994081-T-A | c.1197T>A | p.A399= | Synonymous | 11/36 | - | 2 |
12-8994081-T-C | c.1197T>C | p.A399= | Synonymous | 11/36 | - | 1 |
12-8994081-T-G | c.1197T>G | p.A399= | Synonymous | 11/36 | - | 1 |
12-8994082-C-T | c.1198C>T | p.P400S | Missense | 11/36 | - | 3 |
12-8994083-C-T | c.1199C>T | p.P400L | Missense | 11/36 | - | 2 |
12-8994084-C-A | c.1200C>A | p.P400= | Synonymous | 11/36 | - | 1 |
12-8994084-C-G | c.1200C>G | p.P400= | Synonymous | 11/36 | - | 1 |
12-8994084-C-T | c.1200C>T | p.P400= | Synonymous | 11/36 | - | 1 |
12-8994092-T-C | c.1208T>C | p.L403S | Missense | 11/36 | - | 1 |
12-8994098-C-T | c.1214C>T | p.T405I | Missense | 11/36 | - | 1 |
12-8994101-C-T | c.1217C>T | p.S406F | Missense | 11/36 | - | 1 |
12-8994102-C-A | c.1218C>A | p.S406= | Synonymous | 11/36 | - | 1 |
12-8994102-C-G | c.1218C>G | p.S406= | Synonymous | 11/36 | - | 1 |
12-8994102-C-T | c.1218C>T | p.S406= | Synonymous | 11/36 | - | 3 |
12-8994103-G-A | c.1219G>A | p.G407S | Missense | 11/36 | - | 2 |
12-8994104-G-A | c.1220G>A | p.G407D | Missense | 11/36 | - | 1 |
12-8994108-G-A | c.1224G>A | p.W408* | Nonsense | 11/36 | - | 2 |
12-8994108-G-C | c.1224G>C | p.W408C | Missense | 11/36 | - | 8 |
12-8994108-G-T | c.1224G>T | p.W408C | Missense | 11/36 | - | 6 |
12-8994110-A-G | c.1226A>G | p.N409S | Missense | 11/36 | - | 1 |
12-8994111-T-A | c.1227T>A | p.N409K | Missense | 11/36 | - | 2 |
12-8994111-T-G | c.1227T>G | p.N409K | Missense | 11/36 | - | 2 |
12-8994113-GG-AC | c.1229_1230delinsAC | p.G410D | Missense | 11/36 | - | 1 |
12-8994114-G-A | c.1230G>A | p.G410= | Synonymous | 11/36 | - | 3 |
12-8994115-A-C | c.1231A>C | p.T411P | Missense | 11/36 | - | 1 |
12-8994115-A-G | c.1231A>G | p.T411A | Missense | 11/36 | - | 1 |
12-8994120-C-T | c.1236C>T | p.D412= | Synonymous | 11/36 | - | 2 |
12-8994121-G-A | c.1237G>A | p.V413I | Missense | 11/36 | - | 5 |
12-8994131-A-C | c.1247A>C | p.E416A | Missense | 11/36 | - | 1 |
12-8994212-T-C | c.1248+80T>C | - | IntronicSNV | - | 11/35 | 6 |
12-8995523-C-G | c.1249-207C>G | - | IntronicSNV | - | 11/35 | 1 |
12-8995694-A-G | c.1249-36A>G | - | IntronicSNV | - | 11/35 | 2 |
12-8995730-G-A | c.1249G>A | p.G417R | Missense | 12/36 | - | 2 |
12-8995730-G-C | c.1249G>C | p.G417R | Missense | 12/36 | - | 1 |
12-8995734-A-G | c.1253A>G | p.K418R | Missense | 12/36 | - | 3 |
12-8995735-G-T | c.1254G>T | p.K418N | Missense | 12/36 | - | 1 |
12-8995742-A-G | c.1261A>G | p.M421V | Missense | 12/36 | - | 1 |
12-8995743-T-A | c.1262T>A | p.M421K | Missense | 12/36 | - | 1 |
12-8995744-G-A | c.1263G>A | p.M421I | Missense | 12/36 | - | 4 |
12-8995748-G-T | c.1267G>T | p.D423Y | Missense | 12/36 | - | 2 |
12-8995750-C-T | c.1269C>T | p.D423= | Synonymous | 12/36 | - | 1 |
12-8995751-T-C | c.1270T>C | p.L424= | Synonymous | 12/36 | - | 1 |
12-8995753-A-G | c.1272A>G | p.L424= | Synonymous | 12/36 | - | 2 |
12-8995756-A-G | c.1275A>G | p.V425= | Synonymous | 12/36 | - | 4 |
12-8995756-A-T | c.1275A>T | p.V425= | Synonymous | 12/36 | - | 4 |
12-8995757-T-C | c.1276T>C | p.Y426H | Missense | 12/36 | - | 1 |
12-8995759-T-C | c.1278T>C | p.Y426= | Synonymous | 12/36 | - | 1 |
12-8995762-T-A | c.1281T>A | p.N427K | Missense | 12/36 | - | 1 |
12-8995762-T-G | c.1281T>G | p.N427K | Missense | 12/36 | - | 1 |
12-8995763-C-G | c.1282C>G | p.P428A | Missense | 12/36 | - | 1 |
12-8995763-C-T | c.1282C>T | p.P428S | Missense | 12/36 | - | 2 |
12-8995764-C-T | c.1283C>T | p.P428L | Missense | 12/36 | - | 1 |
12-8995765-G-A | c.1284G>A | p.P428= | Synonymous | 12/36 | - | 5 |
12-8995765-G-C | c.1284G>C | p.P428= | Synonymous | 12/36 | - | 1 |
12-8995765-G-T | c.1284G>T | p.P428= | Synonymous | 12/36 | - | 1 |
12-8995778-CGT-AAG | c.1297_1299delinsAAG | p.R433K | Missense | 12/36 | - | 1 |
12-8995778-C-T | c.1297C>T | p.R433C | Missense | 12/36 | - | 2 |
12-8995779-G-A | c.1298G>A | p.R433H | Missense | 12/36 | - | 7 |
12-8995779-G-C | c.1298G>C | p.R433P | Missense | 12/36 | - | 1 |
12-8995779-G-T | c.1298G>T | p.R433L | Missense | 12/36 | - | 1 |
12-8995783-C-A | c.1302C>A | p.Y434* | Nonsense | 12/36 | - | 1 |
12-8995783-C-G | c.1302C>G | p.Y434* | Nonsense | 12/36 | - | 1 |
12-8995783-C-T | c.1302C>T | p.Y434= | Synonymous | 12/36 | - | 1 |
12-8995786-C-T | c.1305C>T | p.Y435= | Synonymous | 12/36 | - | 1 |
12-8995787-C-A | c.1306C>A | p.Q436K | Missense | 12/36 | - | 2 |
12-8995789-A-C | c.1308A>C | p.Q436H | Missense | 12/36 | - | 3 |
12-8995789-A-T | c.1308A>T | p.Q436H | Missense | 12/36 | - | 1 |
12-8995793-G-C | c.1312G>C | p.A438P | Missense | 12/36 | - | 1 |
12-8995794-C-A | c.1313C>A | p.A438D | Missense | 12/36 | - | 1 |
12-8995794-C-G | c.1313C>G | p.A438G | Missense | 12/36 | - | 1 |
12-8995797-A-G | c.1316A>G | p.Y439C | Missense | 12/36 | - | 1 |
12-8995808-CG-AT | c.1327_1328delinsAT | p.R443I | Missense | 12/36 | - | 1 |
12-8995809-G-A | c.1328G>A | p.R443Q | Missense | 12/36 | - | 3 |
12-8995811-C-A | c.1330C>A | p.P444T | Missense | 12/36 | - | 1 |
12-8995812-C-A | c.1331C>A | p.P444H | Missense | 12/36 | - | 2 |
12-8995813-C-A | c.1332C>A | p.P444= | Synonymous | 12/36 | - | 1 |
12-8995813-C-G | c.1332C>G | p.P444= | Synonymous | 12/36 | - | 1 |
12-8995813-C-T | c.1332C>T | p.P444= | Synonymous | 12/36 | - | 1 |
12-8995814-T-G | c.1333T>G | p.F445V | Missense | 12/36 | - | 1 |
12-8995819-C-T | c.1338C>T | p.Y446= | Synonymous | 12/36 | - | 1 |
12-8995820-A-C | c.1339A>C | p.S447R | Missense | 12/36 | - | 1 |
12-8995822-C-A | c.1341C>A | p.S447R | Missense | 12/36 | - | 1 |
12-8995822-C-G | c.1341C>G | p.S447R | Missense | 12/36 | - | 1 |
12-8995824-C-T | c.1343C>T | p.T448I | Missense | 12/36 | - | 1 |
12-8995826-A-C | c.1345A>C | p.T449P | Missense | 12/36 | - | 1 |
12-8995829-C-T | c.1348C>T | p.R450C | Missense | 12/36 | - | 2 |
12-8995830-G-A | c.1349G>A | p.R450H | Missense | 12/36 | - | 2 |
12-8995831-C-A | c.1350C>A | p.R450= | Synonymous | 12/36 | - | 1 |
12-8995831-C-G | c.1350C>G | p.R450= | Synonymous | 12/36 | - | 1 |
12-8995831-C-T | c.1350C>T | p.R450= | Synonymous | 12/36 | - | 1 |
12-8995845-T-C | c.1364T>C | p.I455T | Missense | 12/36 | - | 1 |
12-8995846-C-G | c.1365C>G | p.I455M | Missense | 12/36 | - | 1 |
12-8995847-C-A | c.1366C>A | p.H456N | Missense | 12/36 | - | 2 |
12-8995849-C-T | c.1368C>T | p.H456= | Synonymous | 12/36 | - | 2 |
12-8995850-C-A | c.1369C>A | p.R457= | Synonymous | 12/36 | - | 1 |
12-8995850-C-T | c.1369C>T | p.R457W | Missense | 12/36 | - | 2 |
12-8995852-G-C | c.1371G>C | p.R457= | Synonymous | 12/36 | - | 1 |
12-8995852-G-T | c.1371G>T | p.R457= | Synonymous | 12/36 | - | 1 |
12-8995851-G-A | c.1370G>A | p.R457Q | Missense | 12/36 | - | 1 |
12-8995852-G-A | c.1371G>A | p.R457= | Synonymous | 12/36 | - | 3 |
12-8995855-A-G | c.1374A>G | p.L458= | Synonymous | 12/36 | - | 1 |
12-8995857-A-G | c.1376A>G | p.N459S | Missense | 12/36 | - | 1 |
12-8995858-C-T | c.1377C>T | p.N459= | Synonymous | 12/36 | - | 2 |
12-8995860-G-C | c.1379G>C | p.G460A | Missense | 12/36 | - | 1 |
12-8995861-C-A | c.1380C>A | p.G460= | Synonymous | 12/36 | - | 2 |
12-8995861-C-G | c.1380C>G | p.G460= | Synonymous | 12/36 | - | 2 |
12-8995861-C-T | c.1380C>T | p.G460= | Synonymous | 12/36 | - | 3 |
12-8995863-C-A | c.1382C>A | p.P461H | Missense | 12/36 | - | 2 |
12-8995863-CC-AT | c.1382_1383delinsAT | p.P461H | Missense | 12/36 | - | 1 |
12-8995864-C-T | c.1383C>T | p.P461= | Synonymous | 12/36 | - | 1 |
12-8995865-T-C | c.1384T>C | p.L462= | Synonymous | 12/36 | - | 1 |
12-8995867-G-A | c.1386G>A | p.L462= | Synonymous | 12/36 | - | 1 |
12-8995875-G-A | c.1394G>A | p.G465D | Missense | 12/36 | - | 2 |
12-8995880-C-A | c.1399C>A | p.P467T | Missense | 12/36 | - | 1 |
12-8995883-C-T | c.1402C>T | p.Q468* | Nonsense | 12/36 | - | 2 |
12-8995884-A-G | c.1403A>G | p.Q468R | Missense | 12/36 | - | 1 |
12-8995884-CA-C | c.1403del | p.Q468Rfs*26 | Frameshift | 12/36 | - | 1 |
12-8995892-C-A | c.1411C>A | p.L471M | Missense | 12/36 | - | 2 |
12-8995896-T-C | c.1415T>C | p.V472A | Missense | 12/36 | - | 2 |
12-8995898-G-A | c.1417G>A | p.D473N | Missense | 12/36 | - | 4 |
12-8995898-G-T | c.1417G>T | p.D473Y | Missense | 12/36 | - | 2 |
12-8995901-T-A | c.1420T>A | p.Y474N | Missense | 12/36 | - | 1 |
12-8995903-T-A | c.1422T>A | p.Y474* | Nonsense | 12/36 | - | 5 |
12-8995903-T-G | c.1422T>G | p.Y474* | Nonsense | 12/36 | - | 1 |
12-8995910-G-A | c.1429G>A | p.D477N | Missense | 12/36 | - | 1 |
12-8995911-A-C | c.1430A>C | p.D477A | Missense | 12/36 | - | 1 |
12-8995914-C-T | c.1433C>T | p.P478L | Missense | 12/36 | - | 4 |
12-8995918-C-A | c.1437C>A | p.A479= | Synonymous | 12/36 | - | 3 |
12-8995918-C-G | c.1437C>G | p.A479= | Synonymous | 12/36 | - | 2 |
12-8995918-C-T | c.1437C>T | p.A479= | Synonymous | 12/36 | - | 2 |
12-8995919-G-A | c.1438G>A | p.D480N | Missense | 12/36 | - | 7 |
12-8995919-G-T | c.1438G>T | p.D480Y | Missense | 12/36 | - | 1 |
12-8995922-G-A | c.1441G>A | p.A481T | Missense | 12/36 | - | 3 |
12-8995923-C-T | c.1442C>T | p.A481V | Missense | 12/36 | - | 1 |
12-8995925-AAG-A | c.1444_1445del | p.S482Pfs*2 | Frameshift | 12/36 | - | 2 |
12-8995931-G-A | c.1450G>A | p.D484N | Missense | 12/36 | - | 2 |
12-8995934-C-A | c.1453C>A | p.Q485K | Missense | 12/36 | - | 1 |
12-8995940-A-G | c.1459A>G | p.I487V | Missense | 12/36 | - | 1 |
12-8995942-C-A | c.1461C>A | p.I487= | Synonymous | 12/36 | - | 3 |
12-8995942-C-T | c.1461C>T | p.I487= | Synonymous | 12/36 | - | 4 |
12-8995943-A-G | c.1462A>G | p.S488G | Missense | 12/36 | - | 3 |
12-8995949-T-A | c.1468T>A | p.S490T | Missense | 12/36 | - | 1 |
12-8995952-T-C | c.1471T>C | p.Y491H | Missense | 12/36 | - | 1 |
12-8995956-A-G | c.1475A>G | p.Y492C | Missense | 12/36 | - | 2 |
12-8995958-G-A | c.1476+1G>A | - | IntronicSNV | - | 12/35 | 1 |
12-8995966-G-A | c.1476+9G>A | - | IntronicSNV | - | 12/35 | 6 |
12-8995979-G-A | c.1476+22G>A | - | IntronicSNV | - | 12/35 | 1 |
12-8995979-G-C | c.1476+22G>C | - | IntronicSNV | - | 12/35 | 1 |
12-8995979-G-T | c.1476+22G>T | - | IntronicSNV | - | 12/35 | 1 |
12-8997695-C-T | c.1477-343C>T | - | IntronicSNV | - | 12/35 | 1 |
12-8997841-G-T | c.1477-197G>T | - | IntronicSNV | - | 12/35 | 4 |
12-8997879-A-G | c.1477-159A>G | - | IntronicSNV | - | 12/35 | 1 |
12-8997899-C-G | c.1477-139C>G | - | IntronicSNV | - | 12/35 | 1 |
12-8997915-C-T | c.1477-123C>T | - | IntronicSNV | - | 12/35 | 2 |
12-8998039-T-A | c.1478T>A | p.L493* | Nonsense | 13/36 | - | 3 |
12-8998042-TA-GC | c.1481_1482delinsGC | p.I494S | Missense | 13/36 | - | 2 |
12-8998042-T-G | c.1481T>G | p.I494R | Missense | 13/36 | - | 1 |
12-8998044-G-A | c.1483G>A | p.G495R | Missense | 13/36 | - | 1 |
12-8998044-GG-TA | c.1483_1484delinsTA | p.G495* | Nonsense | 13/36 | - | 1 |
12-8998044-G-T | c.1483G>T | p.G495W | Missense | 13/36 | - | 3 |
12-8998046-G-A | c.1485G>A | p.G495= | Synonymous | 13/36 | - | 3 |
12-8998048-A-G | c.1487A>G | p.K496R | Missense | 13/36 | - | 1 |
12-8998051-G-A | c.1490G>A | p.G497E | Missense | 13/36 | - | 1 |
12-8998051-G-C | c.1490G>C | p.G497A | Missense | 13/36 | - | 1 |
12-8998053-A-C | c.1492A>C | p.S498R | Missense | 13/36 | - | 3 |
12-8998054-G-C | c.1493G>C | p.S498T | Missense | 13/36 | - | 1 |
12-8998055-T-A | c.1494T>A | p.S498R | Missense | 13/36 | - | 2 |
12-8998055-T-G | c.1494T>G | p.S498R | Missense | 13/36 | - | 2 |
12-8998064-G-A | c.1503G>A | p.M501I | Missense | 13/36 | - | 5 |
12-8998064-G-C | c.1503G>C | p.M501I | Missense | 13/36 | - | 1 |
12-8998064-G-T | c.1503G>T | p.M501I | Missense | 13/36 | - | 1 |
12-8998067-G-T | c.1506G>T | p.E502D | Missense | 13/36 | - | 1 |
12-8998069-G-T | c.1508G>T | p.G503V | Missense | 13/36 | - | 1 |
12-8998074-A-C | c.1513A>C | p.K505Q | Missense | 13/36 | - | 1 |
12-8998082-G-A | c.1521G>A | p.L507= | Synonymous | 13/36 | - | 1 |
12-8998087-C-G | c.1526C>G | p.S509C | Missense | 13/36 | - | 1 |
12-8998087-C-T | c.1526C>T | p.S509F | Missense | 13/36 | - | 1 |
12-8998092-A-T | c.1531A>T | p.K511* | Nonsense | 13/36 | - | 6 |
12-8998093-A-G | c.1532A>G | p.K511R | Missense | 13/36 | - | 1 |
12-8998098-G-A | c.1537G>A | p.G513R | Missense | 13/36 | - | 1 |
12-8998099-G-A | c.1537+1G>A | - | IntronicSNV | - | 13/35 | 1 |
12-8998099-G-T | c.1537+1G>T | - | IntronicSNV | - | 13/35 | 1 |
12-8998303-G-A | c.1537+205G>A | - | IntronicSNV | - | 13/35 | 1 |
12-8998411-G-A | c.1538-262G>A | - | IntronicSNV | - | 13/35 | 1 |
12-8998411-G-C | c.1538-262G>C | - | IntronicSNV | - | 13/35 | 1 |
12-8998587-G-A | c.1538-86G>A | - | IntronicSNV | - | 13/35 | 1 |
12-8998673-GA-AC | c.1538_1539delinsAC | p.G513D | Missense | 14/36 | - | 1 |
12-8998673-G-C | c.1538G>C | p.G513A | Missense | 14/36 | - | 1 |
12-8998675-C-A | c.1540C>A | p.L514M | Missense | 14/36 | - | 1 |
12-8998675-CTG-TTT | c.1540_1542delinsTTT | p.L514F | Missense | 14/36 | - | 1 |
12-8998679-A-T | c.1544A>T | p.K515I | Missense | 14/36 | - | 1 |
12-8998681-G-A | c.1546G>A | p.A516T | Missense | 14/36 | - | 2 |
12-8998682-C-T | c.1547C>T | p.A516V | Missense | 14/36 | - | 1 |
12-8998685-C-T | c.1550C>T | p.S517F | Missense | 14/36 | - | 2 |
12-8998690-T-C | c.1555T>C | p.S519P | Missense | 14/36 | - | 1 |
12-8998691-C-G | c.1556C>G | p.S519C | Missense | 14/36 | - | 1 |
12-8998695-C-A | c.1560C>A | p.L520= | Synonymous | 14/36 | - | 1 |
12-8998695-C-G | c.1560C>G | p.L520= | Synonymous | 14/36 | - | 1 |
12-8998695-C-T | c.1560C>T | p.L520= | Synonymous | 14/36 | - | 1 |
12-8998697-C-T | c.1562C>T | p.S521L | Missense | 14/36 | - | 2 |
12-8998698-A-C | c.1563A>C | p.S521= | Synonymous | 14/36 | - | 2 |
12-8998698-A-G | c.1563A>G | p.S521= | Synonymous | 14/36 | - | 2 |
12-8998698-A-T | c.1563A>T | p.S521= | Synonymous | 14/36 | - | 2 |
12-8998700-T-G | c.1565T>G | p.L522R | Missense | 14/36 | - | 1 |
12-8998703-C-A | c.1568C>A | p.T523N | Missense | 14/36 | - | 4 |
12-8998703-C-T | c.1568C>T | p.T523I | Missense | 14/36 | - | 4 |
12-8998704-C-A | c.1569C>A | p.T523= | Synonymous | 14/36 | - | 1 |
12-8998704-C-G | c.1569C>G | p.T523= | Synonymous | 14/36 | - | 1 |
12-8998704-C-T | c.1569C>T | p.T523= | Synonymous | 14/36 | - | 2 |
12-8998706-T-A | c.1571T>A | p.F524Y | Missense | 14/36 | - | 1 |
12-8998708-A-G | c.1573A>G | p.T525A | Missense | 14/36 | - | 1 |
12-8998712-C-T | c.1577C>T | p.S526L | Missense | 14/36 | - | 3 |
12-8998714-AG-CA | c.1579_1580delinsCA | p.R527Q | Missense | 14/36 | - | 2 |
12-8998716-A-C | c.1581A>C | p.R527S | Missense | 14/36 | - | 1 |
12-8998716-A-T | c.1581A>T | p.R527S | Missense | 14/36 | - | 1 |
12-8998721-C-T | c.1586C>T | p.A529V | Missense | 14/36 | - | 1 |
12-8998722-C-T | c.1587C>T | p.A529= | Synonymous | 14/36 | - | 1 |
12-8998720-GC-G | c.1589del | p.P530Lfs*6 | Frameshift | 14/36 | - | 1 |
12-8998726-G-A | c.1591G>A | p.D531N | Missense | 14/36 | - | 5 |
12-8998728-T-A | c.1593T>A | p.D531E | Missense | 14/36 | - | 1 |
12-8998728-T-G | c.1593T>G | p.D531E | Missense | 14/36 | - | 1 |
12-8998730-C-A | c.1595C>A | p.P532H | Missense | 14/36 | - | 1 |
12-8998730-C-T | c.1595C>T | p.P532L | Missense | 14/36 | - | 1 |
12-8998732-T-A | c.1597T>A | p.S533T | Missense | 14/36 | - | 1 |
12-8998733-C-T | c.1598C>T | p.S533F | Missense | 14/36 | - | 1 |
12-8998736-T-A | c.1601T>A | p.L534Q | Missense | 14/36 | - | 4 |
12-8998735-C-T | c.1600C>T | p.L534= | Synonymous | 14/36 | - | 1 |
12-8998737-G-A | c.1602G>A | p.L534= | Synonymous | 14/36 | - | 1 |
12-8998737-G-C | c.1602G>C | p.L534= | Synonymous | 14/36 | - | 2 |
12-8998737-G-T | c.1602G>T | p.L534= | Synonymous | 14/36 | - | 1 |
12-8998739-T-C | c.1604T>C | p.V535A | Missense | 14/36 | - | 1 |
12-8998740-G-A | c.1605G>A | p.V535= | Synonymous | 14/36 | - | 1 |
12-8998744-T-C | c.1609T>C | p.Y537H | Missense | 14/36 | - | 1 |
12-8998745-A-G | c.1610A>G | p.Y537C | Missense | 14/36 | - | 1 |
12-8998748-C-T | c.1613C>T | p.A538V | Missense | 14/36 | - | 1 |
12-8998754-T-C | c.1619T>C | p.F540S | Missense | 14/36 | - | 1 |
12-8998755-T-C | c.1620T>C | p.F540= | Synonymous | 14/36 | - | 1 |
12-8998756-C-T | c.1621C>T | p.P541S | Missense | 14/36 | - | 1 |
12-8998759-A-G | c.1624A>G | p.S542G | Missense | 14/36 | - | 2 |
12-8998761-T-C | c.1626T>C | p.S542= | Synonymous | 14/36 | - | 3 |
12-8998763-G-A | c.1628G>A | p.G543E | Missense | 14/36 | - | 1 |
12-8998766-G-T | c.1631G>T | p.G544V | Missense | 14/36 | - | 1 |
12-8998768-G-T | c.1633G>T | p.V545F | Missense | 14/36 | - | 1 |
12-8998774-G-A | c.1639G>A | p.A547T | Missense | 14/36 | - | 1 |
12-8998786-C-T | c.1651C>T | p.Q551* | Nonsense | 14/36 | - | 3 |
12-8998790-T-C | c.1655T>C | p.F552S | Missense | 14/36 | - | 1 |
12-8998791-C-T | c.1656C>T | p.F552= | Synonymous | 14/36 | - | 4 |
12-8998792-T-C | c.1657T>C | p.S553P | Missense | 14/36 | - | 1 |
12-8998793-C-T | c.1658C>T | p.S553L | Missense | 14/36 | - | 2 |
12-8998796-T-C | c.1661T>C | p.V554A | Missense | 14/36 | - | 1 |
12-8998798-G-A | c.1663G>A | p.E555K | Missense | 14/36 | - | 1 |
12-8998798-G-T | c.1663G>T | p.E555* | Nonsense | 14/36 | - | 1 |
12-8998804-T-C | c.1669T>C | p.C557R | Missense | 14/36 | - | 1 |
12-8998804-T-G | c.1669T>G | p.C557G | Missense | 14/36 | - | 1 |
12-8998809-T-C | c.1674T>C | p.F558= | Synonymous | 14/36 | - | 1 |
12-8998810-G-A | c.1675G>A | p.D559N | Missense | 14/36 | - | 2 |
12-8998814-A-G | c.1679A>G | p.N560S | Missense | 14/36 | - | 1 |
12-8998816-C-T | c.1681C>T | p.Q561* | Nonsense | 14/36 | - | 1 |
12-8998818-G-C | c.1683G>C | p.Q561H | Missense | 14/36 | - | 3 |
12-8998818-G-T | c.1683G>T | p.Q561H | Missense | 14/36 | - | 2 |
12-8998824-A-G | c.1683+6A>G | - | IntronicSNV | - | 14/35 | 1 |
12-9000145-G-C | c.1684G>C | p.V562L | Missense | 15/36 | - | 1 |
12-9000147-T-G | c.1686T>G | p.V562= | Synonymous | 15/36 | - | 1 |
12-9000148-TC-GG | c.1687_1688delinsGG | p.S563G | Missense | 15/36 | - | 1 |
12-9000149-C-T | c.1688C>T | p.S563F | Missense | 15/36 | - | 6 |
12-9000151-C-T | c.1690C>T | p.L564F | Missense | 15/36 | - | 3 |
12-9000156-C-A | c.1695C>A | p.G565= | Synonymous | 15/36 | - | 1 |
12-9000156-C-G | c.1695C>G | p.G565= | Synonymous | 15/36 | - | 1 |
12-9000156-C-T | c.1695C>T | p.G565= | Synonymous | 15/36 | - | 1 |
12-9000159-C-G | c.1698C>G | p.F566L | Missense | 15/36 | - | 2 |
12-9000159-C-T | c.1698C>T | p.F566= | Synonymous | 15/36 | - | 1 |
12-9000164-C-G | c.1703C>G | p.P568R | Missense | 15/36 | - | 2 |
12-9000160-TC-T | c.1704del | p.S569Pfs*39 | Frameshift | 15/36 | - | 1 |
12-9000175-C-T | c.1714C>T | p.L572F | Missense | 15/36 | - | 1 |
12-9000178-C-T | c.1717C>T | p.P573S | Missense | 15/36 | - | 1 |
12-9000179-C-A | c.1718C>A | p.P573Q | Missense | 15/36 | - | 1 |
12-9000179-C-T | c.1718C>T | p.P573L | Missense | 15/36 | - | 1 |
12-9000180-A-G | c.1719A>G | p.P573= | Synonymous | 15/36 | - | 1 |
12-9000181-G-T | c.1720G>T | p.G574* | Nonsense | 15/36 | - | 2 |
12-9000182-G-A | c.1721G>A | p.G574E | Missense | 15/36 | - | 1 |
12-9000182-G-C | c.1721G>C | p.G574A | Missense | 15/36 | - | 1 |
12-9000185-C-T | c.1724C>T | p.A575V | Missense | 15/36 | - | 1 |
12-9000191-T-C | c.1730T>C | p.V577A | Missense | 15/36 | - | 1 |
12-9000193-G-C | c.1732G>C | p.E578Q | Missense | 15/36 | - | 4 |
12-9000196-C-G | c.1735C>G | p.L579V | Missense | 15/36 | - | 1 |
12-9000203-T-A | c.1742T>A | p.L581Q | Missense | 15/36 | - | 1 |
12-9000206-A-G | c.1745A>G | p.Q582R | Missense | 15/36 | - | 2 |
12-9000207-G-T | c.1746G>T | p.Q582H | Missense | 15/36 | - | 1 |
12-9000211-G-A | c.1750G>A | p.A584T | Missense | 15/36 | - | 1 |
12-9000214-C-A | c.1753C>A | p.P585T | Missense | 15/36 | - | 1 |
12-9000214-C-T | c.1753C>T | p.P585S | Missense | 15/36 | - | 1 |
12-9000217-G-A | c.1756G>A | p.G586R | Missense | 15/36 | - | 1 |
12-9000217-G-C | c.1756G>C | p.G586R | Missense | 15/36 | - | 1 |
12-9000221-C-T | c.1760C>T | p.S587F | Missense | 15/36 | - | 4 |
12-9000222-C-T | c.1761C>T | p.S587= | Synonymous | 15/36 | - | 1 |
12-9000225-G-A | c.1764G>A | p.L588= | Synonymous | 15/36 | - | 1 |
12-9000230-C-T | c.1769C>T | p.A590V | Missense | 15/36 | - | 7 |
12-9000231-G-A | c.1770G>A | p.A590= | Synonymous | 15/36 | - | 6 |
12-9000231-G-C | c.1770G>C | p.A590= | Synonymous | 15/36 | - | 4 |
12-9000231-G-T | c.1770G>T | p.A590= | Synonymous | 15/36 | - | 3 |
12-9000234-C-A | c.1773C>A | p.L591= | Synonymous | 15/36 | - | 1 |
12-9000234-C-G | c.1773C>G | p.L591= | Synonymous | 15/36 | - | 1 |
12-9000234-C-T | c.1773C>T | p.L591= | Synonymous | 15/36 | - | 4 |
12-9000235-C-T | c.1774C>T | p.R592W | Missense | 15/36 | - | 1 |
12-9000236-G-A | c.1775G>A | p.R592Q | Missense | 15/36 | - | 6 |
12-9000236-G-T | c.1775G>T | p.R592L | Missense | 15/36 | - | 9 |
12-9000235-CG-C | c.1777del | p.A593Rfs*15 | Frameshift | 15/36 | - | 1 |
12-9000239-C-A | c.1778C>A | p.A593E | Missense | 15/36 | - | 1 |
12-9000239-C-T | c.1778C>T | p.A593V | Missense | 15/36 | - | 7 |
12-9000240-G-A | c.1779G>A | p.A593= | Synonymous | 15/36 | - | 1 |
12-9000240-G-C | c.1779G>C | p.A593= | Synonymous | 15/36 | - | 1 |
12-9000240-G-T | c.1779G>T | p.A593= | Synonymous | 15/36 | - | 1 |
12-9000241-G-A | c.1780G>A | p.V594M | Missense | 15/36 | - | 4 |
12-9000242-T-C | c.1781T>C | p.V594A | Missense | 15/36 | - | 1 |
12-9000244-G-C | c.1783G>C | p.D595H | Missense | 15/36 | - | 1 |
12-9000248-A-G | c.1787A>G | p.E596G | Missense | 15/36 | - | 3 |
12-9000255-C-A | c.1794C>A | p.V598= | Synonymous | 15/36 | - | 2 |
12-9000255-C-G | c.1794C>G | p.V598= | Synonymous | 15/36 | - | 1 |
12-9000255-C-T | c.1794C>T | p.V598= | Synonymous | 15/36 | - | 1 |
12-9000260-T-C | c.1799T>C | p.L600P | Missense | 15/36 | - | 1 |
12-9000265-A-G | c.1804A>G | p.R602G | Missense | 15/36 | - | 1 |
12-9000274-A-C | c.1813A>C | p.R605= | Synonymous | 15/36 | - | 1 |
12-9000284-G-A | c.1823G>A | p.S608N | Missense | 15/36 | - | 1 |
12-9000283-A-C | c.1822A>C | p.S608R | Missense | 15/36 | - | 1 |
12-9000285-C-A | c.1824C>A | p.S608R | Missense | 15/36 | - | 2 |
12-9000285-C-G | c.1824C>G | p.S608R | Missense | 15/36 | - | 1 |
12-9000287-A-G | c.1826A>G | p.N609S | Missense | 15/36 | - | 2 |
12-9000289-C-T | c.1828C>T | p.R610C | Missense | 15/36 | - | 1 |
12-9000290-G-A | c.1829G>A | p.R610H | Missense | 15/36 | - | 2 |
12-9000291-C-A | c.1830C>A | p.R610= | Synonymous | 15/36 | - | 1 |
12-9000291-C-G | c.1830C>G | p.R610= | Synonymous | 15/36 | - | 1 |
12-9000291-C-T | c.1830C>T | p.R610= | Synonymous | 15/36 | - | 2 |
12-9001318-C-A | c.1836C>A | p.V612= | Synonymous | 16/36 | - | 1 |
12-9001318-C-G | c.1836C>G | p.V612= | Synonymous | 16/36 | - | 1 |
12-9001318-C-T | c.1836C>T | p.V612= | Synonymous | 16/36 | - | 1 |
12-9001323-G-A | c.1841G>A | p.G614E | Missense | 16/36 | - | 3 |
12-9001331-C-A | c.1849C>A | p.P617T | Missense | 16/36 | - | 1 |
12-9001331-C-T | c.1849C>T | p.P617S | Missense | 16/36 | - | 1 |
12-9001338-G-C | c.1856G>C | p.W619S | Missense | 16/36 | - | 1 |
12-9001339-G-C | c.1857G>C | p.W619C | Missense | 16/36 | - | 1 |
12-9001339-G-T | c.1857G>T | p.W619C | Missense | 16/36 | - | 1 |
12-9001344-G-A | c.1862G>A | p.G621D | Missense | 16/36 | - | 1 |
12-9001350-A-G | c.1868A>G | p.Y623C | Missense | 16/36 | - | 1 |
12-9001352-C-T | c.1870C>T | p.P624S | Missense | 16/36 | - | 2 |
12-9001356-A-G | c.1874A>G | p.Y625C | Missense | 16/36 | - | 1 |
12-9001358-C-T | c.1876C>T | p.Q626* | Nonsense | 16/36 | - | 1 |
12-9001360-A-G | c.1878A>G | p.Q626= | Synonymous | 16/36 | - | 1 |
12-9001364-G-A | c.1882G>A | p.A628T | Missense | 16/36 | - | 1 |
12-9001368-A-T | c.1886A>T | p.E629V | Missense | 16/36 | - | 1 |
12-9001371-A-T | c.1889A>T | p.Y630F | Missense | 16/36 | - | 1 |
12-9001374-A-G | c.1892A>G | p.D631G | Missense | 16/36 | - | 1 |
12-9001376-C-T | c.1894C>T | p.Q632* | Nonsense | 16/36 | - | 1 |
12-9001383-C-T | c.1901C>T | p.P634L | Missense | 16/36 | - | 2 |
12-9001387-G-A | c.1905G>A | p.V635= | Synonymous | 16/36 | - | 1 |
12-9001388-TC-CT | c.1906_1907delinsCT | p.S636L | Missense | 16/36 | - | 2 |
12-9001389-C-G | c.1907C>G | p.S636C | Missense | 16/36 | - | 8 |
12-9001389-C-T | c.1907C>T | p.S636F | Missense | 16/36 | - | 1 |
12-9001390-T-A | c.1908T>A | p.S636= | Synonymous | 16/36 | - | 1 |
12-9001390-T-C | c.1908T>C | p.S636= | Synonymous | 16/36 | - | 1 |
12-9001390-T-G | c.1908T>G | p.S636= | Synonymous | 16/36 | - | 1 |
12-9001391-G-A | c.1909G>A | p.G637S | Missense | 16/36 | - | 1 |
12-9001391-G-T | c.1909G>T | p.G637C | Missense | 16/36 | - | 1 |
12-9001392-G-C | c.1910G>C | p.G637A | Missense | 16/36 | - | 2 |
12-9001392-G-T | c.1910G>T | p.G637V | Missense | 16/36 | - | 1 |
12-9001395-C-T | c.1913C>T | p.P638L | Missense | 16/36 | - | 1 |
12-9001397-T-A | c.1915T>A | p.W639R | Missense | 16/36 | - | 1 |
12-9001397-T-C | c.1915T>C | p.W639R | Missense | 16/36 | - | 1 |
12-9001398-G-A | c.1916G>A | p.W639* | Nonsense | 16/36 | - | 2 |
12-9001399-G-A | c.1917G>A | p.W639* | Nonsense | 16/36 | - | 3 |
12-9001400-G-A | c.1918G>A | p.D640N | Missense | 16/36 | - | 1 |
12-9001407-C-T | c.1925C>T | p.P642L | Missense | 16/36 | - | 1 |
12-9001409-C-T | c.1927C>T | p.Q643* | Nonsense | 16/36 | - | 2 |
12-9001410-A-G | c.1928A>G | p.Q643R | Missense | 16/36 | - | 1 |
12-9001415-C-A | c.1933C>A | p.L645I | Missense | 16/36 | - | 3 |
12-9001417-C-A | c.1935C>A | p.L645= | Synonymous | 16/36 | - | 2 |
12-9001417-C-G | c.1935C>G | p.L645= | Synonymous | 16/36 | - | 2 |
12-9001417-C-T | c.1935C>T | p.L645= | Synonymous | 16/36 | - | 2 |
12-9001419-T-C | c.1937T>C | p.I646T | Missense | 16/36 | - | 4 |
12-9001427-A-G | c.1945A>G | p.M649V | Missense | 16/36 | - | 1 |
12-9001427-A-T | c.1945A>T | p.M649L | Missense | 16/36 | - | 1 |
12-9001432-C-A | c.1950C>A | p.P650= | Synonymous | 16/36 | - | 1 |
12-9001433-C-T | c.1951C>T | p.Q651* | Nonsense | 16/36 | - | 1 |
12-9001437-G-C | c.1955G>C | p.G652A | Missense | 16/36 | - | 1 |
12-9001437-G-T | c.1955G>T | p.G652V | Missense | 16/36 | - | 1 |
12-9001438-G-A | c.1956G>A | p.G652= | Synonymous | 16/36 | - | 2 |
12-9001438-G-C | c.1956G>C | p.G652= | Synonymous | 16/36 | - | 2 |
12-9001438-G-T | c.1956G>T | p.G652= | Synonymous | 16/36 | - | 2 |
12-9001443-C-T | c.1961C>T | p.S654L | Missense | 16/36 | - | 1 |
12-9001444-G-A | c.1962G>A | p.S654= | Synonymous | 16/36 | - | 1 |
12-9001445-A-C | c.1963A>C | p.S655R | Missense | 16/36 | - | 1 |
12-9001451-C-T | c.1969C>T | p.R657C | Missense | 16/36 | - | 3 |
12-9001452-G-A | c.1970G>A | p.R657H | Missense | 16/36 | - | 5 |
12-9001455-C-T | c.1973C>T | p.S658F | Missense | 16/36 | - | 2 |
12-9001460-A-T | c.1978A>T | p.I660F | Missense | 16/36 | - | 1 |
12-9001462-C-A | c.1980C>A | p.I660= | Synonymous | 16/36 | - | 1 |
12-9001462-C-T | c.1980C>T | p.I660= | Synonymous | 16/36 | - | 1 |
12-9001465-G-T | c.1983G>T | p.W661C | Missense | 16/36 | - | 1 |
12-9001467-G-A | c.1985G>A | p.R662K | Missense | 16/36 | - | 1 |
12-9001470-C-T | c.1988C>T | p.P663L | Missense | 16/36 | - | 2 |
12-9001472-TC-GG | c.1990_1991delinsGG | p.S664G | Missense | 16/36 | - | 1 |
12-9001473-C-T | c.1991C>T | p.S664L | Missense | 16/36 | - | 2 |
12-9001474-G-A | c.1992G>A | p.S664= | Synonymous | 16/36 | - | 1 |
12-9001474-G-C | c.1992G>C | p.S664= | Synonymous | 16/36 | - | 1 |
12-9001474-G-T | c.1992G>T | p.S664= | Synonymous | 16/36 | - | 1 |
12-9001476-T-C | c.1994T>C | p.F665S | Missense | 16/36 | - | 1 |
12-9001481-G-C | c.1999G>C | p.E667Q | Missense | 16/36 | - | 1 |
12-9001484-G-A | c.2002G>A | p.G668S | Missense | 16/36 | - | 2 |
12-9001484-G-T | c.2002G>T | p.G668C | Missense | 16/36 | - | 1 |
12-9001487-A-C | c.2005A>C | p.T669P | Missense | 16/36 | - | 1 |
12-9001488-C-G | c.2006C>G | p.T669R | Missense | 16/36 | - | 2 |
12-9001488-C-T | c.2006C>T | p.T669M | Missense | 16/36 | - | 1 |
12-9001489-G-A | c.2007G>A | p.T669= | Synonymous | 16/36 | - | 4 |
12-9001489-G-C | c.2007G>C | p.T669= | Synonymous | 16/36 | - | 1 |
12-9001489-G-T | c.2007G>T | p.T669= | Synonymous | 16/36 | - | 1 |
12-9001490-G-T | c.2008G>T | p.D670Y | Missense | 16/36 | - | 2 |
12-9001493-C-A | c.2011C>A | p.L671I | Missense | 16/36 | - | 1 |
12-9001494-T-C | c.2012T>C | p.L671P | Missense | 16/36 | - | 2 |
12-9001496-T-C | c.2014T>C | p.F672L | Missense | 16/36 | - | 1 |
12-9001499-A-G | c.2017A>G | p.S673G | Missense | 16/36 | - | 1 |
12-9001499-A-T | c.2017A>T | p.S673C | Missense | 16/36 | - | 1 |
12-9001505-T-G | c.2023T>G | p.F675V | Missense | 16/36 | - | 1 |
12-9001507-C-A | c.2025C>A | p.F675L | Missense | 16/36 | - | 4 |
12-9001508-C-A | c.2026C>A | p.R676= | Synonymous | 16/36 | - | 1 |
12-9001508-C-CA | c.2026_2027insA | p.R676Qfs*41 | SpliceDonorInsertion | 16/36 | - | 1 |
12-9001508-C-T | c.2026C>T | p.R676W | Missense | 16/36 | - | 1 |
12-9001510-G-A | c.2028G>A | p.R676= | Synonymous | 16/36 | - | 1 |
12-9001510-G-C | c.2028G>C | p.R676= | Synonymous | 16/36 | - | 1 |
12-9001510-G-T | c.2028G>T | p.R676= | Synonymous | 16/36 | - | 1 |
12-9001509-G-A | c.2027G>A | p.R676Q | Missense | 16/36 | - | 1 |
12-9001509-GG-AT | c.2027_2028delinsAT | p.R676H | Missense | 16/36 | - | 1 |
12-9001751-G-GA | c.2028+245dup | - | IntronicInsertion | - | 16/35 | 1 |
12-9002267-C-A | c.2031C>A | p.D677E | Missense | 17/36 | - | 1 |
12-9002268-G-A | c.2032G>A | p.V678M | Missense | 17/36 | - | 2 |
12-9002268-G-T | c.2032G>T | p.V678L | Missense | 17/36 | - | 4 |
12-9002270-G-A | c.2034G>A | p.V678= | Synonymous | 17/36 | - | 1 |
12-9002270-G-T | c.2034G>T | p.V678= | Synonymous | 17/36 | - | 1 |
12-9002271-G-T | c.2035G>T | p.G679C | Missense | 17/36 | - | 1 |
12-9002274-CTG-TTT | c.2038_2040delinsTTT | p.L680F | Missense | 17/36 | - | 1 |
12-9002274-C-T | c.2038C>T | p.L680= | Synonymous | 17/36 | - | 1 |
12-9002276-G-A | c.2040G>A | p.L680= | Synonymous | 17/36 | - | 1 |
12-9002276-G-C | c.2040G>C | p.L680= | Synonymous | 17/36 | - | 1 |
12-9002276-G-T | c.2040G>T | p.L680= | Synonymous | 17/36 | - | 1 |
12-9002284-T-C | c.2048T>C | p.L683P | Missense | 17/36 | - | 1 |
12-9002286-TC-GG | c.2050_2051delinsGG | p.S684G | Missense | 17/36 | - | 1 |
12-9002290-A-G | c.2054A>G | p.N685S | Missense | 17/36 | - | 1 |
12-9002293-C-T | c.2057C>T | p.A686V | Missense | 17/36 | - | 1 |
12-9002295-A-G | c.2059A>G | p.K687E | Missense | 17/36 | - | 1 |
12-9002299-T-C | c.2063T>C | p.I688T | Missense | 17/36 | - | 1 |
12-9002303-G-C | c.2067G>C | p.K689N | Missense | 17/36 | - | 1 |
12-9002303-G-T | c.2067G>T | p.K689N | Missense | 17/36 | - | 1 |
12-9002308-C-T | c.2072C>T | p.P691L | Missense | 17/36 | - | 1 |
12-9002310-G-A | c.2074G>A | p.V692I | Missense | 17/36 | - | 1 |
12-9002313-G-A | c.2077G>A | p.D693N | Missense | 17/36 | - | 3 |
12-9002313-G-T | c.2077G>T | p.D693Y | Missense | 17/36 | - | 1 |
12-9002321-T-C | c.2085T>C | p.S695= | Synonymous | 17/36 | - | 1 |
12-9002326-G-A | c.2090G>A | p.R697K | Missense | 17/36 | - | 1 |
12-9002326-G-T | c.2090G>T | p.R697I | Missense | 17/36 | - | 1 |
12-9002331-C-G | c.2095C>G | p.P699A | Missense | 17/36 | - | 1 |
12-9002341-G-A | c.2105G>A | p.S702N | Missense | 17/36 | - | 1 |
12-9002348-T-C | c.2112T>C | p.A704= | Synonymous | 17/36 | - | 1 |
12-9002349-A-G | c.2113A>G | p.M705V | Missense | 17/36 | - | 2 |
12-9002349-A-T | c.2113A>T | p.M705L | Missense | 17/36 | - | 1 |
12-9002352-G-A | c.2116G>A | p.G706S | Missense | 17/36 | - | 2 |
12-9002353-G-C | c.2117G>C | p.G706A | Missense | 17/36 | - | 1 |
12-9002746-A-G | c.2120-10A>G | - | IntronicSNV | - | 17/35 | 1 |
12-9002759-G-A | c.2123G>A | p.G708D | Missense | 18/36 | - | 1 |
12-9002760-C-T | c.2124C>T | p.G708= | Synonymous | 18/36 | - | 1 |
12-9002762-G-C | c.2126G>C | p.G709A | Missense | 18/36 | - | 1 |
12-9002764-G-A | c.2128G>A | p.G710S | Missense | 18/36 | - | 1 |
12-9002764-GG-AC | c.2128_2129delinsAC | p.G710T | Missense | 18/36 | - | 1 |
12-9002773-G-T | c.2137G>T | p.E713* | Nonsense | 18/36 | - | 3 |
12-9002777-CT-C | c.2145del | p.F715Lfs*52 | Frameshift | 18/36 | - | 2 |
12-9002783-A-C | c.2147A>C | p.E716A | Missense | 18/36 | - | 1 |
12-9002783-A-G | c.2147A>G | p.E716G | Missense | 18/36 | - | 1 |
12-9002785-T-G | c.2149T>G | p.S717A | Missense | 18/36 | - | 1 |
12-9002789-C-T | c.2153C>T | p.S718L | Missense | 18/36 | - | 1 |
12-9002792-C-A | c.2156C>A | p.T719N | Missense | 18/36 | - | 1 |
12-9002794-C-T | c.2158C>T | p.P720S | Missense | 18/36 | - | 4 |
12-9002800-C-T | c.2164C>T | p.H722Y | Missense | 18/36 | - | 3 |
12-9002802-T-C | c.2166T>C | p.H722= | Synonymous | 18/36 | - | 1 |
12-9002803-C-T | c.2167C>T | p.Q723* | Nonsense | 18/36 | - | 1 |
12-9002806-G-A | c.2170G>A | p.A724T | Missense | 18/36 | - | 1 |
12-9002809-G-A | c.2173G>A | p.E725K | Missense | 18/36 | - | 5 |
12-9002812-G-T | c.2176G>T | p.D726Y | Missense | 18/36 | - | 2 |
12-9002824-CGC-TGG | c.2188_2190delinsTGG | p.R730W | Missense | 18/36 | - | 1 |
12-9002824-C-T | c.2188C>T | p.R730C | Missense | 18/36 | - | 3 |
12-9002825-G-A | c.2189G>A | p.R730H | Missense | 18/36 | - | 2 |
12-9002825-G-C | c.2189G>C | p.R730P | Missense | 18/36 | - | 1 |
12-9002825-G-T | c.2189G>T | p.R730L | Missense | 18/36 | - | 1 |
12-9002833-T-C | c.2197T>C | p.F733L | Missense | 18/36 | - | 5 |
12-9002835-C-A | c.2199C>A | p.F733L | Missense | 18/36 | - | 3 |
12-9002835-C-G | c.2199C>G | p.F733L | Missense | 18/36 | - | 3 |
12-9002839-G-A | c.2203G>A | p.E735K | Missense | 18/36 | - | 1 |
12-9002839-G-T | c.2203G>T | p.E735* | Nonsense | 18/36 | - | 1 |
12-9002837-CAG-C | c.2205_2206del | p.E735Dfs*11 | Frameshift | 18/36 | - | 1 |
12-9002841-G-C | c.2205G>C | p.E735D | Missense | 18/36 | - | 1 |
12-9002841-G-T | c.2205G>T | p.E735D | Missense | 18/36 | - | 1 |
12-9002845-T-A | c.2209T>A | p.W737R | Missense | 18/36 | - | 1 |
12-9002848-C-A | c.2212C>A | p.L738I | Missense | 18/36 | - | 3 |
12-9002850-C-T | c.2214C>T | p.L738= | Synonymous | 18/36 | - | 1 |
12-9002854-G-A | c.2218G>A | p.D740N | Missense | 18/36 | - | 1 |
12-9002855-A-G | c.2219A>G | p.D740G | Missense | 18/36 | - | 1 |
12-9002860-T-C | c.2224T>C | p.F742L | Missense | 18/36 | - | 1 |
12-9002862-T-A | c.2226T>A | p.F742L | Missense | 18/36 | - | 1 |
12-9002862-T-G | c.2226T>G | p.F742L | Missense | 18/36 | - | 1 |
12-9002861-T-C | c.2225T>C | p.F742S | Missense | 18/36 | - | 1 |
12-9002863-C-T | c.2227C>T | p.P743S | Missense | 18/36 | - | 4 |
12-9002864-C-T | c.2228C>T | p.P743L | Missense | 18/36 | - | 7 |
12-9002932-A-G | c.2234+62A>G | - | IntronicSNV | - | 18/35 | 1 |
12-9003560-C-G | c.2234+690C>G | - | IntronicSNV | - | 18/35 | 1 |
12-9004385-C-T | c.2240C>T | p.S747L | Missense | 19/36 | - | 2 |
12-9004388-G-A | c.2243G>A | p.G748E | Missense | 19/36 | - | 4 |
12-9004388-G-C | c.2243G>C | p.G748A | Missense | 19/36 | - | 1 |
12-9004392-G-A | c.2247G>A | p.K749= | Synonymous | 19/36 | - | 1 |
12-9004394-A-C | c.2249A>C | p.E750A | Missense | 19/36 | - | 2 |
12-9004394-A-T | c.2249A>T | p.E750V | Missense | 19/36 | - | 1 |
12-9004396-G-A | c.2251G>A | p.A751T | Missense | 19/36 | - | 3 |
12-9004397-C-A | c.2252C>A | p.A751E | Missense | 19/36 | - | 2 |
12-9004397-C-G | c.2252C>G | p.A751G | Missense | 19/36 | - | 1 |
12-9004397-C-T | c.2252C>T | p.A751V | Missense | 19/36 | - | 5 |
12-9004398-G-A | c.2253G>A | p.A751= | Synonymous | 19/36 | - | 1 |
12-9004401-C-T | c.2256C>T | p.V752= | Synonymous | 19/36 | - | 1 |
12-9004404-C-T | c.2259C>T | p.H753= | Synonymous | 19/36 | - | 2 |
12-9004411-GTT-ATG | c.2266_2268delinsATG | p.V756M | Missense | 19/36 | - | 1 |
12-9004417-G-C | c.2272G>C | p.D758H | Missense | 19/36 | - | 1 |
12-9004417-G-T | c.2272G>T | p.D758Y | Missense | 19/36 | - | 2 |
12-9004419-C-T | c.2274C>T | p.D758= | Synonymous | 19/36 | - | 3 |
12-9004420-G-A | c.2275G>A | p.A759T | Missense | 19/36 | - | 1 |
12-9004424-T-C | c.2279T>C | p.I760T | Missense | 19/36 | - | 1 |
12-9004427-C-A | c.2282C>A | p.T761N | Missense | 19/36 | - | 1 |
12-9004427-C-T | c.2282C>T | p.T761I | Missense | 19/36 | - | 1 |
12-9004429-G-T | c.2284G>T | p.E762* | Nonsense | 19/36 | - | 1 |
12-9004433-G-C | c.2288G>C | p.W763S | Missense | 19/36 | - | 1 |
12-9004439-C-T | c.2294C>T | p.A765V | Missense | 19/36 | - | 3 |
12-9004440-G-A | c.2295G>A | p.A765= | Synonymous | 19/36 | - | 1 |
12-9004440-G-C | c.2295G>C | p.A765= | Synonymous | 19/36 | - | 1 |
12-9004441-A-G | c.2296A>G | p.M766V | Missense | 19/36 | - | 15 |
12-9004451-G-A | c.2306G>A | p.C769Y | Missense | 19/36 | - | 1 |
12-9004453-A-G | c.2308A>G | p.T770A | Missense | 19/36 | - | 1 |
12-9004458-C-A | c.2313C>A | p.S771= | Synonymous | 19/36 | - | 1 |
12-9004458-C-G | c.2313C>G | p.S771= | Synonymous | 19/36 | - | 1 |
12-9004458-C-T | c.2313C>T | p.S771= | Synonymous | 19/36 | - | 2 |
12-9004460-A-G | c.2315A>G | p.Q772R | Missense | 19/36 | - | 1 |
12-9004462-TCA-AAC | c.2317_2319delinsAAC | p.S773N | Missense | 19/36 | - | 1 |
12-9004465-A-G | c.2320A>G | p.R774G | Missense | 19/36 | - | 1 |
12-9004465-AGA-CAT | c.2320_2322delinsCAT | p.R774H | Missense | 19/36 | - | 1 |
12-9004468-G-A | c.2323G>A | p.G775S | Missense | 19/36 | - | 2 |
12-9004469-G-C | c.2324G>C | p.G775A | Missense | 19/36 | - | 1 |
12-9004472-T-G | c.2327T>G | p.F776C | Missense | 19/36 | - | 1 |
12-9004474-G-A | c.2329G>A | p.G777R | Missense | 19/36 | - | 2 |
12-9004474-G-C | c.2329G>C | p.G777R | Missense | 19/36 | - | 1 |
12-9004479-T-A | c.2334T>A | p.L778= | Synonymous | 19/36 | - | 1 |
12-9004479-T-C | c.2334T>C | p.L778= | Synonymous | 19/36 | - | 1 |
12-9004479-T-G | c.2334T>G | p.L778= | Synonymous | 19/36 | - | 1 |
12-9004482-A-C | c.2337A>C | p.S779= | Synonymous | 19/36 | - | 3 |
12-9004482-A-G | c.2337A>G | p.S779= | Synonymous | 19/36 | - | 3 |
12-9004482-A-T | c.2337A>T | p.S779= | Synonymous | 19/36 | - | 3 |
12-9004486-A-G | c.2341A>G | p.T781A | Missense | 19/36 | - | 2 |
12-9004487-C-T | c.2342C>T | p.T781I | Missense | 19/36 | - | 1 |
12-9004489-G-T | c.2344G>T | p.V782F | Missense | 19/36 | - | 1 |
12-9004499-C-G | c.2354C>G | p.T785S | Missense | 19/36 | - | 1 |
12-9004505-T-G | c.2360T>G | p.F787C | Missense | 19/36 | - | 1 |
12-9004509-G-T | c.2364G>T | p.K788N | Missense | 19/36 | - | 1 |
12-9004510-C-T | c.2365C>T | p.P789S | Missense | 19/36 | - | 6 |
12-9004512-G-A | c.2367G>A | p.P789= | Synonymous | 19/36 | - | 24 |
12-9004512-G-C | c.2367G>C | p.P789= | Synonymous | 19/36 | - | 23 |
12-9004512-G-T | c.2367G>T | p.P789= | Synonymous | 19/36 | - | 14 |
12-9004515-C-A | c.2370C>A | p.F790L | Missense | 19/36 | - | 1 |
12-9004515-C-T | c.2370C>T | p.F790= | Synonymous | 19/36 | - | 1 |
12-9004524-C-G | c.2379C>G | p.D793E | Missense | 19/36 | - | 1 |
12-9004526-T-C | c.2381T>C | p.L794P | Missense | 19/36 | - | 1 |
12-9004533-C-A | c.2388C>A | p.L796= | Synonymous | 19/36 | - | 1 |
12-9004533-C-T | c.2388C>T | p.L796= | Synonymous | 19/36 | - | 1 |
12-9004534-C-T | c.2389C>T | p.P797S | Missense | 19/36 | - | 3 |
12-9004535-C-A | c.2390C>A | p.P797H | Missense | 19/36 | - | 1 |
12-9004535-C-G | c.2390C>G | p.P797R | Missense | 19/36 | - | 1 |
12-9004540-T-G | c.2395T>G | p.S799A | Missense | 19/36 | - | 2 |
12-9004543-G-A | c.2398G>A | p.V800I | Missense | 19/36 | - | 4 |
12-9004545-A-C | c.2400A>C | p.V800= | Synonymous | 19/36 | - | 1 |
12-9004546-G-T | c.2401G>T | p.V801F | Missense | 19/36 | - | 2 |
12-9004548-C-T | c.2403C>T | p.V801= | Synonymous | 19/36 | - | 2 |
12-9004549-C-T | c.2404C>T | p.R802C | Missense | 19/36 | - | 7 |
12-9004550-G-A | c.2405G>A | p.R802H | Missense | 19/36 | - | 19 |
12-9004550-G-T | c.2405G>T | p.R802L | Missense | 19/36 | - | 5 |
12-9004552-G-A | c.2407G>A | p.G803R | Missense | 19/36 | - | 1 |
12-9004552-GG-AC | c.2407_2408delinsAC | p.G803T | Missense | 19/36 | - | 1 |
12-9004555-G-A | c.2410G>A | p.E804K | Missense | 19/36 | - | 1 |
12-9004563-T-C | c.2418T>C | p.F806= | Synonymous | 19/36 | - | 1 |
12-9004564-C-T | c.2419C>T | p.R807C | Missense | 19/36 | - | 7 |
12-9004565-G-A | c.2420G>A | p.R807H | Missense | 19/36 | - | 4 |
12-9004565-G-T | c.2420G>T | p.R807L | Missense | 19/36 | - | 1 |
12-9004571-C-T | c.2426C>T | p.T809I | Missense | 19/36 | - | 1 |
12-9004573-G-A | c.2428G>A | p.A810T | Missense | 19/36 | - | 4 |
12-9004578-C-T | c.2433C>T | p.T811= | Synonymous | 19/36 | - | 1 |
12-9004582-T-C | c.2437T>C | p.F813L | Missense | 19/36 | - | 3 |
12-9004584-C-G | c.2439C>G | p.F813L | Missense | 19/36 | - | 3 |
12-9004584-C-A | c.2439C>A | p.F813L | Missense | 19/36 | - | 4 |
12-9004586-A-G | c.2441A>G | p.N814S | Missense | 19/36 | - | 2 |
12-9004587-T-C | c.2442T>C | p.N814= | Synonymous | 19/36 | - | 1 |
12-9004591-C-G | c.2446C>G | p.L816V | Missense | 19/36 | - | 2 |
12-9004591-C-T | c.2446C>T | p.L816= | Synonymous | 19/36 | - | 1 |
12-9004599-T-C | c.2454T>C | p.D818= | Synonymous | 19/36 | - | 1 |
12-9004600-T-C | c.2455T>C | p.C819R | Missense | 19/36 | - | 1 |
12-9004604-T-C | c.2459T>C | p.I820T | Missense | 19/36 | - | 1 |
12-9004605-C-A | c.2460C>A | p.I820= | Synonymous | 19/36 | - | 1 |
12-9004605-C-G | c.2460C>G | p.I820M | Missense | 19/36 | - | 1 |
12-9004605-C-T | c.2460C>T | p.I820= | Synonymous | 19/36 | - | 1 |
12-9004606-AG-CA | c.2461_2462delinsCA | p.R821Q | Missense | 19/36 | - | 1 |
12-9004609-G-A | c.2463+1G>A | - | IntronicSNV | - | 19/35 | 1 |
12-9004652-A-T | c.2463+44A>T | - | IntronicSNV | - | 19/35 | 1 |
12-9004667-G-C | c.2463+59G>C | - | IntronicSNV | - | 19/35 | 8 |
12-9004700-C-T | c.2463+92C>T | - | IntronicSNV | - | 19/35 | 1 |
12-9004806-G-A | c.2464G>A | p.V822I | Missense | 20/36 | - | 1 |
12-9004809-C-T | c.2467C>T | p.Q823* | Nonsense | 20/36 | - | 6 |
12-9004811-G-A | c.2469G>A | p.Q823= | Synonymous | 20/36 | - | 1 |
12-9004815-G-C | c.2473G>C | p.D825H | Missense | 20/36 | - | 1 |
12-9004821-G-T | c.2479G>T | p.A827S | Missense | 20/36 | - | 1 |
12-9004822-C-T | c.2480C>T | p.A827V | Missense | 20/36 | - | 1 |
12-9004828-C-A | c.2486C>A | p.S829* | Nonsense | 20/36 | - | 1 |
12-9004828-C-T | c.2486C>T | p.S829L | Missense | 20/36 | - | 7 |
12-9004829-G-A | c.2487G>A | p.S829= | Synonymous | 20/36 | - | 6 |
12-9004829-G-C | c.2487G>C | p.S829= | Synonymous | 20/36 | - | 3 |
12-9004829-G-T | c.2487G>T | p.S829= | Synonymous | 20/36 | - | 5 |
12-9004833-G-A | c.2491G>A | p.E831K | Missense | 20/36 | - | 1 |
12-9004839-C-T | c.2497C>T | p.Q833* | Nonsense | 20/36 | - | 1 |
12-9004849-CA-TT | c.2507_2508delinsTT | p.S836F | Missense | 20/36 | - | 1 |
12-9004849-C-T | c.2507C>T | p.S836L | Missense | 20/36 | - | 4 |
12-9004851-T-C | c.2509T>C | p.W837R | Missense | 20/36 | - | 1 |
12-9004852-G-A | c.2510G>A | p.W837* | Nonsense | 20/36 | - | 1 |
12-9004854-G-T | c.2512G>T | p.A838S | Missense | 20/36 | - | 1 |
12-9004855-C-A | c.2513C>A | p.A838E | Missense | 20/36 | - | 2 |
12-9004858-A-C | c.2516A>C | p.D839A | Missense | 20/36 | - | 1 |
12-9004863-C-G | c.2521C>G | p.Q841E | Missense | 20/36 | - | 2 |
12-9004867-C-T | c.2525C>T | p.T842I | Missense | 20/36 | - | 2 |
12-9004868-C-A | c.2526C>A | p.T842= | Synonymous | 20/36 | - | 2 |
12-9004868-C-G | c.2526C>G | p.T842= | Synonymous | 20/36 | - | 1 |
12-9004868-C-T | c.2526C>T | p.T842= | Synonymous | 20/36 | - | 1 |
12-9004870-C-A | c.2528C>A | p.S843Y | Missense | 20/36 | - | 1 |
12-9004870-C-T | c.2528C>T | p.S843F | Missense | 20/36 | - | 6 |
12-9004872-A-C | c.2530A>C | p.S844R | Missense | 20/36 | - | 2 |
12-9004874-T-A | c.2532T>A | p.S844R | Missense | 20/36 | - | 1 |
12-9004874-T-G | c.2532T>G | p.S844R | Missense | 20/36 | - | 1 |
12-9004875-TG-AC | c.2533_2534delinsAC | p.C845T | Missense | 20/36 | - | 1 |
12-9004887-G-T | c.2545G>T | p.D849Y | Missense | 20/36 | - | 2 |
12-9004888-A-G | c.2546A>G | p.D849G | Missense | 20/36 | - | 4 |
12-9004892-C-A | c.2550C>A | p.D850E | Missense | 20/36 | - | 32 |
12-9004892-C-T | c.2550C>T | p.D850= | Synonymous | 20/36 | - | 32 |
12-9004893-G-A | c.2551G>A | p.A851T | Missense | 20/36 | - | 1 |
12-9004894-CA-C | c.2557del | p.T853Pfs*142 | Frameshift | 20/36 | - | 1 |
12-9004899-A-C | c.2557A>C | p.T853P | Missense | 20/36 | - | 2 |
12-9004902-C-T | c.2560C>T | p.H854Y | Missense | 20/36 | - | 6 |
12-9004904-C-T | c.2562C>T | p.H854= | Synonymous | 20/36 | - | 1 |
12-9004907-C-T | c.2565C>T | p.H855= | Synonymous | 20/36 | - | 1 |
12-9004909-G-A | c.2567G>A | p.W856* | Nonsense | 20/36 | - | 1 |
12-9004910-G-A | c.2568G>A | p.W856* | Nonsense | 20/36 | - | 1 |
12-9004912-A-G | c.2570A>G | p.N857S | Missense | 20/36 | - | 2 |
12-9004913-C-T | c.2571C>T | p.N857= | Synonymous | 20/36 | - | 1 |
12-9004914-A-G | c.2572A>G | p.I858V | Missense | 20/36 | - | 1 |
12-9004917-A-T | c.2575A>T | p.T859S | Missense | 20/36 | - | 1 |
12-9004924-T-C | c.2582T>C | p.V861A | Missense | 20/36 | - | 1 |
12-9006687-C-T | c.2591-37C>T | - | IntronicSNV | - | 20/35 | 1 |
12-9006725-T-C | c.2592T>C | p.G864= | Synonymous | 21/36 | - | 1 |
12-9006725-T-G | c.2592T>G | p.G864= | Synonymous | 21/36 | - | 1 |
12-9006734-C-G | c.2601C>G | p.N867K | Missense | 21/36 | - | 1 |
12-9006738-TA-T | c.2605del | p.T869Lfs*126 | Frameshift | 21/36 | - | 1 |
12-9006740-T-A | c.2607T>A | p.T869= | Synonymous | 21/36 | - | 1 |
12-9006740-T-C | c.2607T>C | p.T869= | Synonymous | 21/36 | - | 1 |
12-9006740-T-G | c.2607T>G | p.T869= | Synonymous | 21/36 | - | 1 |
12-9006741-A-G | c.2608A>G | p.I870V | Missense | 21/36 | - | 1 |
12-9006743-T-A | c.2610T>A | p.I870= | Synonymous | 21/36 | - | 1 |
12-9006744-A-G | c.2611A>G | p.S871G | Missense | 21/36 | - | 1 |
12-9006745-G-A | c.2612G>A | p.S871N | Missense | 21/36 | - | 1 |
12-9006744-A-C | c.2611A>C | p.S871R | Missense | 21/36 | - | 2 |
12-9006750-A-G | c.2617A>G | p.K873E | Missense | 21/36 | - | 3 |
12-9006756-C-A | c.2623C>A | p.L875M | Missense | 21/36 | - | 1 |
12-9006756-C-G | c.2623C>G | p.L875V | Missense | 21/36 | - | 4 |
12-9006756-C-T | c.2623C>T | p.L875= | Synonymous | 21/36 | - | 1 |
12-9006757-T-C | c.2624T>C | p.L875P | Missense | 21/36 | - | 1 |
12-9006759-G-A | c.2626G>A | p.D876N | Missense | 21/36 | - | 2 |
12-9006766-A-G | c.2633A>G | p.N878S | Missense | 21/36 | - | 1 |
12-9006780-G-A | c.2647G>A | p.G883S | Missense | 21/36 | - | 1 |
12-9006780-GGC-TGG | c.2647_2649delinsTGG | p.G883W | Missense | 21/36 | - | 1 |
12-9006780-G-T | c.2647G>T | p.G883C | Missense | 21/36 | - | 1 |
12-9006781-G-A | c.2648G>A | p.G883D | Missense | 21/36 | - | 1 |
12-9006790-G-C | c.2657G>C | p.G886A | Missense | 21/36 | - | 1 |
12-9006791-G-A | c.2658G>A | p.G886= | Synonymous | 21/36 | - | 1 |
12-9006791-G-C | c.2658G>C | p.G886= | Synonymous | 21/36 | - | 1 |
12-9006791-G-T | c.2658G>T | p.G886= | Synonymous | 21/36 | - | 1 |
12-9006792-T-C | c.2659T>C | p.F887L | Missense | 21/36 | - | 1 |
12-9006794-T-A | c.2661T>A | p.F887L | Missense | 21/36 | - | 1 |
12-9006794-T-G | c.2661T>G | p.F887L | Missense | 21/36 | - | 2 |
12-9006798-C-T | c.2665C>T | p.P889S | Missense | 21/36 | - | 1 |
12-9006802-A-C | c.2669A>C | p.Q890P | Missense | 21/36 | - | 1 |
12-9006803-A-T | c.2670A>T | p.Q890H | Missense | 21/36 | - | 1 |
12-9006806-G-A | c.2673G>A | p.K891= | Synonymous | 21/36 | - | 1 |
12-9006810-C-T | c.2677C>T | p.R893* | Nonsense | 21/36 | - | 8 |
12-9006811-G-A | c.2678G>A | p.R893Q | Missense | 21/36 | - | 5 |
12-9006811-GA-AT | c.2678_2679delinsAT | p.R893H | Missense | 21/36 | - | 1 |
12-9006817-A-T | c.2684A>T | p.D895V | Missense | 21/36 | - | 1 |
12-9006820-C-T | c.2687C>T | p.T896M | Missense | 21/36 | - | 2 |
12-9006821-G-A | c.2688G>A | p.T896= | Synonymous | 21/36 | - | 3 |
12-9006821-G-C | c.2688G>C | p.T896= | Synonymous | 21/36 | - | 2 |
12-9006821-G-T | c.2688G>T | p.T896= | Synonymous | 21/36 | - | 1 |
12-9006822-C-A | c.2689C>A | p.L897I | Missense | 21/36 | - | 1 |
12-9006827-C-A | c.2694C>A | p.I898= | Synonymous | 21/36 | - | 1 |
12-9006837-C-A | c.2704C>A | p.L902I | Missense | 21/36 | - | 1 |
12-9006839-C-T | c.2706C>T | p.L902= | Synonymous | 21/36 | - | 1 |
12-9006840-G-A | c.2707G>A | p.V903I | Missense | 21/36 | - | 6 |
12-9006846-G-A | c.2712+1G>A | - | IntronicSNV | - | 21/35 | 1 |
12-9006848-G-C | c.2712+3G>C | - | IntronicSNV | - | 21/35 | 1 |
12-9007031-C-G | c.2712+186C>G | - | IntronicSNV | - | 21/35 | 2 |
12-9007031-C-T | c.2712+186C>T | - | IntronicSNV | - | 21/35 | 1 |
12-9007161-T-G | c.2713-215T>G | - | IntronicSNV | - | 21/35 | 1 |
12-9007371-C-T | c.2713-5C>T | - | IntronicSNV | - | 21/35 | 1 |
12-9007379-G-A | c.2716G>A | p.E906K | Missense | 22/36 | - | 1 |
12-9007383-G-C | c.2720G>C | p.G907A | Missense | 22/36 | - | 1 |
12-9007388-CTG-TTT | c.2725_2727delinsTTT | p.L909F | Missense | 22/36 | - | 1 |
12-9007391-G-A | c.2728G>A | p.V910M | Missense | 22/36 | - | 1 |
12-9007394-G-C | c.2731G>C | p.E911Q | Missense | 22/36 | - | 1 |
12-9007400-ACA-TGT | c.2737_2739inv | p.T913C | Missense | 22/36 | - | 1 |
12-9007400-A-T | c.2737A>T | p.T913S | Missense | 22/36 | - | 2 |
12-9007407-G-A | c.2744G>A | p.S915N | Missense | 22/36 | - | 4 |
12-9007408-C-T | c.2745C>T | p.S915= | Synonymous | 22/36 | - | 1 |
12-9007410-C-T | c.2747C>T | p.S916L | Missense | 22/36 | - | 1 |
12-9007412-T-C | c.2749T>C | p.L917= | Synonymous | 22/36 | - | 1 |
12-9007417-G-A | c.2754G>A | p.L918= | Synonymous | 22/36 | - | 1 |
12-9007418-T-G | c.2755T>G | p.C919G | Missense | 22/36 | - | 1 |
12-9007422-C-T | c.2759C>T | p.P920L | Missense | 22/36 | - | 1 |
12-9007427-G-A | c.2764G>A | p.G922R | Missense | 22/36 | - | 1 |
12-9007427-G-C | c.2764G>C | p.G922R | Missense | 22/36 | - | 1 |
12-9007478-G-T | c.2764+51G>T | - | IntronicSNV | - | 22/35 | 1 |
12-9007486-C-T | c.2764+59C>T | - | IntronicSNV | - | 22/35 | 1 |
12-9007492-A-T | c.2764+65A>T | - | IntronicSNV | - | 22/35 | 1 |
12-9007493-T-TTC | c.2764+67_2764+68insCT | - | IntronicInsertion | - | 22/35 | 1 |
12-9007492-A-AT | c.2764+81dup | - | IntronicInsertion | - | 22/35 | 1 |
12-9007514-G-A | c.2764+87G>A | - | IntronicSNV | - | 22/35 | 1 |
12-9007542-T-G | c.2764+115T>G | - | IntronicSNV | - | 22/35 | 1 |
12-9007775-C-T | c.2765-330C>T | - | IntronicSNV | - | 22/35 | 1 |
12-9008105-G-A | c.2765G>A | p.G922E | Missense | 23/36 | - | 2 |
12-9008109-G-C | c.2769G>C | p.K923N | Missense | 23/36 | - | 2 |
12-9008109-G-T | c.2769G>T | p.K923N | Missense | 23/36 | - | 3 |
12-9008113-G-A | c.2773G>A | p.A925T | Missense | 23/36 | - | 1 |
12-9008114-C-T | c.2774C>T | p.A925V | Missense | 23/36 | - | 2 |
12-9008115-A-C | c.2775A>C | p.A925= | Synonymous | 23/36 | - | 1 |
12-9008117-C-T | c.2777C>T | p.S926F | Missense | 23/36 | - | 1 |
12-9008118-T-C | c.2778T>C | p.S926= | Synonymous | 23/36 | - | 1 |
12-9008130-C-T | c.2790C>T | p.S930= | Synonymous | 23/36 | - | 2 |
12-9008131-C-A | c.2791C>A | p.L931M | Missense | 23/36 | - | 1 |
12-9008132-T-A | c.2792T>A | p.L931Q | Missense | 23/36 | - | 1 |
12-9008139-C-T | c.2799C>T | p.L933= | Synonymous | 23/36 | - | 1 |
12-9008143-G-C | c.2803G>C | p.V935L | Missense | 23/36 | - | 1 |
12-9008143-G-T | c.2803G>T | p.V935L | Missense | 23/36 | - | 1 |
12-9008151-T-A | c.2811T>A | p.I937= | Synonymous | 23/36 | - | 1 |
12-9008151-T-C | c.2811T>C | p.I937= | Synonymous | 23/36 | - | 2 |
12-9008155-C-T | c.2815C>T | p.P939S | Missense | 23/36 | - | 1 |
12-9008158-G-A | c.2818G>A | p.D940N | Missense | 23/36 | - | 1 |
12-9008158-G-C | c.2818G>C | p.D940H | Missense | 23/36 | - | 1 |
12-9008162-C-A | c.2822C>A | p.S941* | Nonsense | 23/36 | - | 1 |
12-9008167-A-G | c.2827A>G | p.K943E | Missense | 23/36 | - | 1 |
12-9008173-T-C | c.2833T>C | p.Y945H | Missense | 23/36 | - | 1 |
12-9008180-C-A | c.2840C>A | p.T947K | Missense | 23/36 | - | 1 |
12-9008180-C-T | c.2840C>T | p.T947M | Missense | 23/36 | - | 4 |
12-9008181-G-A | c.2841G>A | p.T947= | Synonymous | 23/36 | - | 4 |
12-9008181-G-C | c.2841G>C | p.T947= | Synonymous | 23/36 | - | 3 |
12-9008181-G-T | c.2841G>T | p.T947= | Synonymous | 23/36 | - | 2 |
12-9008182-G-A | c.2842G>A | p.V948I | Missense | 23/36 | - | 1 |
12-9008318-G-A | c.2848+130G>A | - | IntronicSNV | - | 23/35 | 1 |
12-9008318-G-C | c.2848+130G>C | - | IntronicSNV | - | 23/35 | 4 |
12-9009731-T-C | c.2849-29T>C | - | IntronicSNV | - | 23/35 | 1 |
12-9009760-G-A | c.2849G>A | p.G950E | Missense | 24/36 | - | 2 |
12-9009768-A-G | c.2857A>G | p.M953V | Missense | 24/36 | - | 1 |
12-9009771-G-T | c.2860G>T | p.G954C | Missense | 24/36 | - | 1 |
12-9009772-G-T | c.2861G>T | p.G954V | Missense | 24/36 | - | 1 |
12-9009773-C-A | c.2862C>A | p.G954= | Synonymous | 24/36 | - | 2 |
12-9009773-C-G | c.2862C>G | p.G954= | Synonymous | 24/36 | - | 2 |
12-9009773-C-T | c.2862C>T | p.G954= | Synonymous | 24/36 | - | 1 |
12-9009777-G-A | c.2866G>A | p.A956T | Missense | 24/36 | - | 1 |
12-9009778-C-T | c.2867C>T | p.A956V | Missense | 24/36 | - | 3 |
12-9009779-C-T | c.2868C>T | p.A956= | Synonymous | 24/36 | - | 4 |
12-9009780-C-A | c.2869C>A | p.L957M | Missense | 24/36 | - | 1 |
12-9009783-C-A | c.2872C>A | p.Q958K | Missense | 24/36 | - | 1 |
12-9009785-G-T | c.2874G>T | p.Q958H | Missense | 24/36 | - | 1 |
12-9009793-A-G | c.2882A>G | p.D961G | Missense | 24/36 | - | 1 |
12-9009801-GTG-ATC | c.2890_2892delinsATC | p.V964I | Missense | 24/36 | - | 1 |
12-9009802-T-A | c.2891T>A | p.V964E | Missense | 24/36 | - | 1 |
12-9009809-G-A | c.2898G>A | p.M966I | Missense | 24/36 | - | 2 |
12-9009809-G-C | c.2898G>C | p.M966I | Missense | 24/36 | - | 1 |
12-9009809-G-T | c.2898G>T | p.M966I | Missense | 24/36 | - | 1 |
12-9009811-C-G | c.2900C>G | p.P967R | Missense | 24/36 | - | 1 |
12-9009811-C-T | c.2900C>T | p.P967L | Missense | 24/36 | - | 1 |
12-9009812-C-A | c.2901C>A | p.P967= | Synonymous | 24/36 | - | 1 |
12-9009812-C-G | c.2901C>G | p.P967= | Synonymous | 24/36 | - | 1 |
12-9009812-C-T | c.2901C>T | p.P967= | Synonymous | 24/36 | - | 1 |
12-9009814-G-A | c.2903G>A | p.S968N | Missense | 24/36 | - | 3 |
12-9009816-G-T | c.2905G>T | p.G969C | Missense | 24/36 | - | 1 |
12-9009819-T-A | c.2908T>A | p.C970S | Missense | 24/36 | - | 1 |
12-9009819-TGT-CAA | c.2908_2910delinsCAA | p.C970Q | Missense | 24/36 | - | 1 |
12-9009820-G-C | c.2909G>C | p.C970S | Missense | 24/36 | - | 1 |
12-9009820-G-A | c.2909G>A | p.C970Y | Missense | 24/36 | - | 17 |
12-9009821-T-G | c.2910T>G | p.C970W | Missense | 24/36 | - | 1 |
12-9009822-G-T | c.2911G>T | p.G971C | Missense | 24/36 | - | 1 |
12-9009824-C-A | c.2913C>A | p.G971= | Synonymous | 24/36 | - | 2 |
12-9009824-C-G | c.2913C>G | p.G971= | Synonymous | 24/36 | - | 3 |
12-9009824-C-T | c.2913C>T | p.G971= | Synonymous | 24/36 | - | 3 |
12-9009825-G-A | c.2914G>A | p.E972K | Missense | 24/36 | - | 4 |
12-9009825-G-T | c.2914G>T | p.E972* | Nonsense | 24/36 | - | 3 |
12-9009832-A-G | c.2921A>G | p.N974S | Missense | 24/36 | - | 1 |
12-9009834-A-C | c.2923A>C | p.M975L | Missense | 24/36 | - | 1 |
12-9009835-T-C | c.2924T>C | p.M975T | Missense | 24/36 | - | 6 |
12-9009837-G-A | c.2926G>A | p.V976I | Missense | 24/36 | - | 1 |
12-9009837-GTC-ATG | c.2926_2928delinsATG | p.V976M | Missense | 24/36 | - | 1 |
12-9009843-T-A | c.2932T>A | p.F978I | Missense | 24/36 | - | 1 |
12-9009854-C-A | c.2943C>A | p.I981= | Synonymous | 24/36 | - | 1 |
12-9009856-T-C | c.2945T>C | p.I982T | Missense | 24/36 | - | 1 |
12-9009859-A-G | c.2948A>G | p.Y983C | Missense | 24/36 | - | 1 |
12-9009873-C-G | c.2962C>G | p.L988V | Missense | 24/36 | - | 1 |
12-9009876-G-A | c.2965G>A | p.E989K | Missense | 24/36 | - | 2 |
12-9009880-A-G | c.2969A>G | p.K990R | Missense | 24/36 | - | 2 |
12-9009882-G-A | c.2971G>A | p.A991T | Missense | 24/36 | - | 1 |
12-9009882-G-C | c.2971G>C | p.A991P | Missense | 24/36 | - | 2 |
12-9009886-G-A | c.2975G>A | p.G992E | Missense | 24/36 | - | 1 |
12-9009888-C-A | c.2977C>A | p.L993M | Missense | 24/36 | - | 4 |
12-9009894-A-G | c.2983A>G | p.T995A | Missense | 24/36 | - | 1 |
12-9009894-A-T | c.2983A>T | p.T995S | Missense | 24/36 | - | 2 |
12-9009895-C-T | c.2984C>T | p.T995M | Missense | 24/36 | - | 2 |
12-9009896-G-A | c.2985G>A | p.T995= | Synonymous | 24/36 | - | 6 |
12-9009896-G-C | c.2985G>C | p.T995= | Synonymous | 24/36 | - | 2 |
12-9009896-G-T | c.2985G>T | p.T995= | Synonymous | 24/36 | - | 2 |
12-9009897-G-A | c.2986G>A | p.E996K | Missense | 24/36 | - | 2 |
12-9009900-G-A | c.2989G>A | p.E997K | Missense | 24/36 | - | 1 |
12-9009905-C-A | c.2994C>A | p.I998= | Synonymous | 24/36 | - | 1 |
12-9009905-C-T | c.2994C>T | p.I998= | Synonymous | 24/36 | - | 1 |
12-9009910-C-T | c.2999C>T | p.S1000F | Missense | 24/36 | - | 1 |
12-9009912-C-T | c.3001C>T | p.R1001W | Missense | 24/36 | - | 6 |
12-9009913-G-A | c.3002G>A | p.R1001Q | Missense | 24/36 | - | 5 |
12-9009921-G-T | c.3010G>T | p.G1004C | Missense | 24/36 | - | 1 |
12-9009922-G-T | c.3011G>T | p.G1004V | Missense | 24/36 | - | 3 |
12-9009923-T-A | c.3012T>A | p.G1004= | Synonymous | 24/36 | - | 1 |
12-9009923-T-C | c.3012T>C | p.G1004= | Synonymous | 24/36 | - | 2 |
12-9009923-T-G | c.3012T>G | p.G1004= | Synonymous | 24/36 | - | 1 |
12-9009926-C-T | c.3015C>T | p.F1005= | Synonymous | 24/36 | - | 1 |
12-9009927-C-T | c.3016C>T | p.L1006= | Synonymous | 24/36 | - | 1 |
12-9009928-T-C | c.3017T>C | p.L1006P | Missense | 24/36 | - | 1 |
12-9009929-G-A | c.3018G>A | p.L1006= | Synonymous | 24/36 | - | 2 |
12-9009999-T-A | c.3025+63T>A | - | IntronicSNV | - | 24/35 | 1 |
12-9009999-T-TAA | c.3025+63_3025+64insAA | - | IntronicInsertion | - | 24/35 | 1 |
12-9010000-G-A | c.3025+64G>A | - | IntronicSNV | - | 24/35 | 1 |
12-9010114-G-A | c.3037G>A | p.E1013K | Missense | 25/36 | - | 1 |
12-9010116-G-C | c.3039G>C | p.E1013D | Missense | 25/36 | - | 1 |
12-9010116-G-T | c.3039G>T | p.E1013D | Missense | 25/36 | - | 1 |
12-9010123-T-A | c.3046T>A | p.Y1016N | Missense | 25/36 | - | 1 |
12-9010123-T-C | c.3046T>C | p.Y1016H | Missense | 25/36 | - | 1 |
12-9010136-A-G | c.3059A>G | p.N1020S | Missense | 25/36 | - | 1 |
12-9010139-G-A | c.3062G>A | p.G1021D | Missense | 25/36 | - | 1 |
12-9010147-A-G | c.3070A>G | p.S1024G | Missense | 25/36 | - | 1 |
12-9010150-G-A | c.3073G>A | p.A1025T | Missense | 25/36 | - | 1 |
12-9010151-C-G | c.3074C>G | p.A1025G | Missense | 25/36 | - | 1 |
12-9010151-C-T | c.3074C>T | p.A1025V | Missense | 25/36 | - | 4 |
12-9010155-T-C | c.3078T>C | p.F1026= | Synonymous | 25/36 | - | 1 |
12-9010157-G-A | c.3080G>A | p.G1027E | Missense | 25/36 | - | 1 |
12-9010162-C-T | c.3085C>T | p.R1029* | Nonsense | 25/36 | - | 1 |
12-9010163-G-A | c.3086G>A | p.R1029Q | Missense | 25/36 | - | 3 |
12-9010166-A-T | c.3089A>T | p.D1030V | Missense | 25/36 | - | 1 |
12-9010169-G-C | c.3092G>C | p.G1031A | Missense | 25/36 | - | 1 |
12-9010175-G-A | c.3098G>A | p.G1033E | Missense | 25/36 | - | 1 |
12-9010175-G-C | c.3098G>C | p.G1033A | Missense | 25/36 | - | 1 |
12-9010178-A-T | c.3101A>T | p.N1034I | Missense | 25/36 | - | 1 |
12-9010181-C-T | c.3104C>T | p.T1035I | Missense | 25/36 | - | 1 |
12-9010183-T-C | c.3106T>C | p.W1036R | Missense | 25/36 | - | 1 |
12-9010184-G-A | c.3107G>A | p.W1036* | Nonsense | 25/36 | - | 1 |
12-9010185-G-T | c.3107+1G>T | - | IntronicSNV | - | 25/35 | 1 |
12-9010226-A-G | c.3107+42A>G | - | IntronicSNV | - | 25/35 | 1 |
12-9010538-G-GT | c.3108-3dup | - | IntronicInsertion | - | 25/35 | 1 |
12-9010549-G-C | c.3115G>C | p.A1039P | Missense | 26/36 | - | 1 |
12-9010550-C-T | c.3116C>T | p.A1039V | Missense | 26/36 | - | 5 |
12-9010551-G-A | c.3117G>A | p.A1039= | Synonymous | 26/36 | - | 2 |
12-9010551-G-T | c.3117G>T | p.A1039= | Synonymous | 26/36 | - | 2 |
12-9010556-T-C | c.3122T>C | p.V1041A | Missense | 26/36 | - | 1 |
12-9010558-A-G | c.3124A>G | p.T1042A | Missense | 26/36 | - | 2 |
12-9010561-A-G | c.3127A>G | p.K1043E | Missense | 26/36 | - | 1 |
12-9010568-T-G | c.3134T>G | p.F1045C | Missense | 26/36 | - | 1 |
12-9010570-G-C | c.3136G>C | p.G1046R | Missense | 26/36 | - | 1 |
12-9010577-C-G | c.3143C>G | p.A1048G | Missense | 26/36 | - | 1 |
12-9010578-T-A | c.3144T>A | p.A1048= | Synonymous | 26/36 | - | 1 |
12-9010578-T-C | c.3144T>C | p.A1048= | Synonymous | 26/36 | - | 1 |
12-9010578-T-G | c.3144T>G | p.A1048= | Synonymous | 26/36 | - | 1 |
12-9010579-C-G | c.3145C>G | p.Q1049E | Missense | 26/36 | - | 1 |
12-9010579-C-T | c.3145C>T | p.Q1049* | Nonsense | 26/36 | - | 2 |
12-9010586-T-C | c.3152T>C | p.F1051S | Missense | 26/36 | - | 1 |
12-9010588-A-G | c.3154A>G | p.I1052V | Missense | 26/36 | - | 1 |
12-9010595-T-C | c.3161T>C | p.I1054T | Missense | 26/36 | - | 1 |
12-9010618-G-A | c.3184G>A | p.A1062T | Missense | 26/36 | - | 2 |
12-9010628-G-A | c.3194G>A | p.W1065* | Nonsense | 26/36 | - | 3 |
12-9010628-G-T | c.3194G>T | p.W1065L | Missense | 26/36 | - | 1 |
12-9010629-G-A | c.3195G>A | p.W1065* | Nonsense | 26/36 | - | 2 |
12-9010629-G-C | c.3195G>C | p.W1065C | Missense | 26/36 | - | 1 |
12-9010636-G-A | c.3202G>A | p.G1068R | Missense | 26/36 | - | 1 |
12-9010636-G-C | c.3202G>C | p.G1068R | Missense | 26/36 | - | 1 |
12-9010637-G-A | c.3203G>A | p.G1068E | Missense | 26/36 | - | 2 |
12-9010641-C-G | c.3207C>G | p.N1069K | Missense | 26/36 | - | 1 |
12-9010642-C-T | c.3208C>T | p.Q1070* | Nonsense | 26/36 | - | 1 |
12-9010648-CC-TT | c.3214_3215delinsTT | p.P1072F | Missense | 26/36 | - | 1 |
12-9010650-C-G | c.3216C>G | p.P1072= | Synonymous | 26/36 | - | 1 |
12-9010655-G-A | c.3221G>A | p.G1074D | Missense | 26/36 | - | 1 |
12-9010663-G-T | c.3229G>T | p.A1077S | Missense | 26/36 | - | 1 |
12-9010664-C-T | c.3230C>T | p.A1077V | Missense | 26/36 | - | 1 |
12-9010667-A-C | c.3233A>C | p.N1078T | Missense | 26/36 | - | 2 |
12-9010668-C-T | c.3234C>T | p.N1078= | Synonymous | 26/36 | - | 1 |
12-9010671-G-A | c.3237G>A | p.V1079= | Synonymous | 26/36 | - | 17 |
12-9010671-G-C | c.3237G>C | p.V1079= | Synonymous | 26/36 | - | 15 |
12-9010671-G-T | c.3237G>T | p.V1079= | Synonymous | 26/36 | - | 2 |
12-9010672-G-A | c.3238G>A | p.G1080R | Missense | 26/36 | - | 1 |
12-9010672-G-C | c.3238G>C | p.G1080R | Missense | 26/36 | - | 1 |
12-9010679-T-C | c.3245T>C | p.L1082P | Missense | 26/36 | - | 2 |
12-9010680-C-A | c.3246C>A | p.L1082= | Synonymous | 26/36 | - | 1 |
12-9010680-C-G | c.3246C>G | p.L1082= | Synonymous | 26/36 | - | 1 |
12-9010680-C-T | c.3246C>T | p.L1082= | Synonymous | 26/36 | - | 3 |
12-9010684-C-A | c.3250C>A | p.H1084N | Missense | 26/36 | - | 1 |
12-9010684-C-T | c.3250C>T | p.H1084Y | Missense | 26/36 | - | 2 |
12-9010686-C-T | c.3252C>T | p.H1084= | Synonymous | 26/36 | - | 1 |
12-9010690-G-A | c.3256G>A | p.A1086T | Missense | 26/36 | - | 2 |
12-9010696-A-C | c.3262A>C | p.K1088Q | Missense | 26/36 | - | 1 |
12-9010969-A-G | c.3264+271A>G | - | IntronicSNV | - | 26/35 | 1 |
12-9010977-G-T | c.3264+279G>T | - | IntronicSNV | - | 26/35 | 1 |
12-9013329-G-A | c.3265-148G>A | - | IntronicSNV | - | 26/35 | 1 |
12-9013442-C-T | c.3265-35C>T | - | IntronicSNV | - | 26/35 | 1 |
12-9013479-T-C | c.3267T>C | p.G1089= | Synonymous | 27/36 | - | 1 |
12-9013481-G-A | c.3269G>A | p.G1090D | Missense | 27/36 | - | 9 |
12-9013481-G-C | c.3269G>C | p.G1090A | Missense | 27/36 | - | 1 |
12-9013483-G-A | c.3271G>A | p.V1091I | Missense | 27/36 | - | 2 |
12-9013484-T-A | c.3272T>A | p.V1091D | Missense | 27/36 | - | 1 |
12-9013484-T-C | c.3272T>C | p.V1091A | Missense | 27/36 | - | 6 |
12-9013484-T-G | c.3272T>G | p.V1091G | Missense | 27/36 | - | 1 |
12-9013486-G-T | c.3274G>T | p.D1092Y | Missense | 27/36 | - | 1 |
12-9013489-G-A | c.3277G>A | p.D1093N | Missense | 27/36 | - | 1 |
12-9013489-G-T | c.3277G>T | p.D1093Y | Missense | 27/36 | - | 1 |
12-9013492-G-A | c.3280G>A | p.E1094K | Missense | 27/36 | - | 1 |
12-9013492-G-T | c.3280G>T | p.E1094* | Nonsense | 27/36 | - | 1 |
12-9013499-C-T | c.3287C>T | p.S1096F | Missense | 27/36 | - | 1 |
12-9013503-G-C | c.3291G>C | p.L1097F | Missense | 27/36 | - | 1 |
12-9013507-G-A | c.3295G>A | p.A1099T | Missense | 27/36 | - | 1 |
12-9013508-C-G | c.3296C>G | p.A1099G | Missense | 27/36 | - | 1 |
12-9013508-C-T | c.3296C>T | p.A1099V | Missense | 27/36 | - | 4 |
12-9013510-T-C | c.3298T>C | p.Y1100H | Missense | 27/36 | - | 1 |
12-9013511-A-C | c.3299A>C | p.Y1100S | Missense | 27/36 | - | 2 |
12-9013517-C-T | c.3305C>T | p.T1102I | Missense | 27/36 | - | 1 |
12-9013529-T-G | c.3317T>G | p.L1106R | Missense | 27/36 | - | 1 |
12-9013531-G-A | c.3319G>A | p.E1107K | Missense | 27/36 | - | 1 |
12-9013534-A-T | c.3322A>T | p.M1108L | Missense | 27/36 | - | 1 |
12-9013535-T-C | c.3323T>C | p.M1108T | Missense | 27/36 | - | 1 |
12-9013543-G-T | c.3331G>T | p.D1111Y | Missense | 27/36 | - | 1 |
12-9013549-G-C | c.3337G>C | p.D1113H | Missense | 27/36 | - | 1 |
12-9013549-G-T | c.3337G>T | p.D1113Y | Missense | 27/36 | - | 1 |
12-9013551-T-G | c.3339T>G | p.D1113E | Missense | 27/36 | - | 1 |
12-9013553-T-G | c.3339+2T>G | - | IntronicSNV | - | 27/35 | 1 |
12-9013734-C-T | c.3343C>T | p.P1115S | Missense | 28/36 | - | 1 |
12-9013736-A-T | c.3345A>T | p.P1115= | Synonymous | 28/36 | - | 1 |
12-9013737-A-C | c.3346A>C | p.M1116L | Missense | 28/36 | - | 1 |
12-9013737-A-G | c.3346A>G | p.M1116V | Missense | 28/36 | - | 2 |
12-9013737-A-T | c.3346A>T | p.M1116L | Missense | 28/36 | - | 1 |
12-9013738-T-C | c.3347T>C | p.M1116T | Missense | 28/36 | - | 1 |
12-9013740-G-A | c.3349G>A | p.V1117M | Missense | 28/36 | - | 1 |
12-9013744-G-A | c.3353G>A | p.S1118N | Missense | 28/36 | - | 1 |
12-9013748-G-A | c.3357G>A | p.Q1119= | Synonymous | 28/36 | - | 2 |
12-9013750-G-C | c.3359G>C | p.G1120A | Missense | 28/36 | - | 1 |
12-9013751-T-A | c.3360T>A | p.G1120= | Synonymous | 28/36 | - | 2 |
12-9013751-T-C | c.3360T>C | p.G1120= | Synonymous | 28/36 | - | 1 |
12-9013751-T-G | c.3360T>G | p.G1120= | Synonymous | 28/36 | - | 1 |
12-9013752-C-A | c.3361C>A | p.L1121I | Missense | 28/36 | - | 1 |
12-9013753-T-C | c.3362T>C | p.L1121P | Missense | 28/36 | - | 1 |
12-9013755-C-A | c.3364C>A | p.R1122= | Synonymous | 28/36 | - | 1 |
12-9013755-C-T | c.3364C>T | p.R1122W | Missense | 28/36 | - | 40 |
12-9013757-G-C | c.3366G>C | p.R1122= | Synonymous | 28/36 | - | 1 |
12-9013757-G-T | c.3366G>T | p.R1122= | Synonymous | 28/36 | - | 1 |
12-9013756-G-A | c.3365G>A | p.R1122Q | Missense | 28/36 | - | 1 |
12-9013757-G-A | c.3366G>A | p.R1122= | Synonymous | 28/36 | - | 2 |
12-9013761-C-T | c.3370C>T | p.L1124F | Missense | 28/36 | - | 2 |
12-9013765-A-C | c.3374A>C | p.K1125T | Missense | 28/36 | - | 1 |
12-9013765-A-G | c.3374A>G | p.K1125R | Missense | 28/36 | - | 1 |
12-9013766-G-A | c.3375G>A | p.K1125= | Synonymous | 28/36 | - | 2 |
12-9013766-G-C | c.3375G>C | p.K1125N | Missense | 28/36 | - | 1 |
12-9013766-G-T | c.3375G>T | p.K1125N | Missense | 28/36 | - | 2 |
12-9013767-A-C | c.3376A>C | p.N1126H | Missense | 28/36 | - | 4 |
12-9013771-C-T | c.3380C>T | p.S1127L | Missense | 28/36 | - | 6 |
12-9013772-G-A | c.3381G>A | p.S1127= | Synonymous | 28/36 | - | 3 |
12-9013773-G-A | c.3382G>A | p.A1128T | Missense | 28/36 | - | 1 |
12-9013774-C-T | c.3383C>T | p.A1128V | Missense | 28/36 | - | 1 |
12-9013776-A-G | c.3385A>G | p.T1129A | Missense | 28/36 | - | 1 |
12-9013777-C-T | c.3386C>T | p.T1129I | Missense | 28/36 | - | 2 |
12-9013783-C-T | c.3392C>T | p.T1131M | Missense | 28/36 | - | 5 |
12-9013786-C-T | c.3395C>T | p.T1132I | Missense | 28/36 | - | 6 |
12-9013789-A-C | c.3398A>C | p.N1133T | Missense | 28/36 | - | 2 |
12-9013789-A-G | c.3398A>G | p.N1133S | Missense | 28/36 | - | 5 |
12-9013793-C-A | c.3402C>A | p.L1134= | Synonymous | 28/36 | - | 2 |
12-9013793-C-G | c.3402C>G | p.L1134= | Synonymous | 28/36 | - | 3 |
12-9013793-C-T | c.3402C>T | p.L1134= | Synonymous | 28/36 | - | 3 |
12-9013797-A-T | c.3406A>T | p.T1136S | Missense | 28/36 | - | 1 |
12-9013800-C-G | c.3409C>G | p.Q1137E | Missense | 28/36 | - | 3 |
12-9013802-G-A | c.3411G>A | p.Q1137= | Synonymous | 28/36 | - | 2 |
12-9013803-G-T | c.3412G>T | p.A1138S | Missense | 28/36 | - | 1 |
12-9013809-T-A | c.3418T>A | p.L1140M | Missense | 28/36 | - | 1 |
12-9013813-C-T | c.3422C>T | p.A1141V | Missense | 28/36 | - | 2 |
12-9013818-A-G | c.3427A>G | p.I1143V | Missense | 28/36 | - | 2 |
12-9013821-T-C | c.3430T>C | p.F1144L | Missense | 28/36 | - | 1 |
12-9013821-T-G | c.3430T>G | p.F1144V | Missense | 28/36 | - | 1 |
12-9013823-C-A | c.3432C>A | p.F1144L | Missense | 28/36 | - | 1 |
12-9013831-C-T | c.3440C>T | p.A1147V | Missense | 28/36 | - | 2 |
12-9013833-G-A | c.3442G>A | p.G1148R | Missense | 28/36 | - | 1 |
12-9013834-G-C | c.3443G>C | p.G1148A | Missense | 28/36 | - | 2 |
12-9013836-G-A | c.3445G>A | p.E1149K | Missense | 28/36 | - | 2 |
12-9013841-G-A | c.3450G>A | p.M1150I | Missense | 28/36 | - | 1 |
12-9013849-G-A | c.3458G>A | p.R1153K | Missense | 28/36 | - | 1 |
12-9013849-G-T | c.3458G>T | p.R1153I | Missense | 28/36 | - | 2 |
12-9013852-A-C | c.3461A>C | p.N1154T | Missense | 28/36 | - | 1 |
12-9013857-C-T | c.3466C>T | p.L1156F | Missense | 28/36 | - | 5 |
12-9013861-T-A | c.3470T>A | p.L1157H | Missense | 28/36 | - | 1 |
12-9013866-C-A | c.3475C>A | p.Q1159K | Missense | 28/36 | - | 2 |
12-9013866-C-T | c.3475C>T | p.Q1159* | Nonsense | 28/36 | - | 1 |
12-9013872-G-T | c.3481G>T | p.D1161Y | Missense | 28/36 | - | 1 |
12-9013882-C-T | c.3491C>T | p.A1164V | Missense | 28/36 | - | 2 |
12-9013886-C-G | c.3495C>G | p.I1165M | Missense | 28/36 | - | 1 |
12-9013886-C-T | c.3495C>T | p.I1165= | Synonymous | 28/36 | - | 2 |
12-9013888-T-C | c.3497T>C | p.I1166T | Missense | 28/36 | - | 1 |
12-9013892-A-C | c.3501A>C | p.S1167= | Synonymous | 28/36 | - | 1 |
12-9013892-A-G | c.3501A>G | p.S1167= | Synonymous | 28/36 | - | 1 |
12-9013892-A-T | c.3501A>T | p.S1167= | Synonymous | 28/36 | - | 1 |
12-9016207-A-G | c.3503-183A>G | - | IntronicSNV | - | 28/35 | 1 |
12-9016209-G-A | c.3503-181G>A | - | IntronicSNV | - | 28/35 | 1 |
12-9016318-T-C | c.3503-72T>C | - | IntronicSNV | - | 28/35 | 1 |
12-9016392-G-A | c.3505G>A | p.E1169K | Missense | 29/36 | - | 2 |
12-9016392-G-T | c.3505G>T | p.E1169* | Nonsense | 29/36 | - | 3 |
12-9016396-C-T | c.3509C>T | p.S1170F | Missense | 29/36 | - | 1 |
12-9016397-C-G | c.3510C>G | p.S1170= | Synonymous | 29/36 | - | 1 |
12-9016404-T-A | c.3517T>A | p.W1173R | Missense | 29/36 | - | 1 |
12-9016404-T-C | c.3517T>C | p.W1173R | Missense | 29/36 | - | 1 |
12-9016420-C-T | c.3533C>T | p.T1178I | Missense | 29/36 | - | 1 |
12-9016422-C-T | c.3535C>T | p.P1179S | Missense | 29/36 | - | 1 |
12-9016429-C-T | c.3542C>T | p.S1181L | Missense | 29/36 | - | 1 |
12-9016433-C-A | c.3546C>A | p.N1182K | Missense | 29/36 | - | 3 |
12-9016433-C-G | c.3546C>G | p.N1182K | Missense | 29/36 | - | 2 |
12-9016434-G-A | c.3547G>A | p.A1183T | Missense | 29/36 | - | 1 |
12-9016434-GC-TG | c.3547_3548delinsTG | p.A1183C | Missense | 29/36 | - | 1 |
12-9016435-C-G | c.3548C>G | p.A1183G | Missense | 29/36 | - | 1 |
12-9016437-A-T | c.3550A>T | p.S1184C | Missense | 29/36 | - | 2 |
12-9016441-C-A | c.3554C>A | p.P1185H | Missense | 29/36 | - | 1 |
12-9016445-G-T | c.3558G>T | p.W1186C | Missense | 29/36 | - | 1 |
12-9016449-G-A | c.3562G>A | p.E1188K | Missense | 29/36 | - | 1 |
12-9016455-G-C | c.3568G>C | p.A1190P | Missense | 29/36 | - | 1 |
12-9016456-C-A | c.3569C>A | p.A1190E | Missense | 29/36 | - | 2 |
12-9016456-C-G | c.3569C>G | p.A1190G | Missense | 29/36 | - | 1 |
12-9016456-C-T | c.3569C>T | p.A1190V | Missense | 29/36 | - | 12 |
12-9016457-G-A | c.3570G>A | p.A1190= | Synonymous | 29/36 | - | 2 |
12-9016457-G-C | c.3570G>C | p.A1190= | Synonymous | 29/36 | - | 1 |
12-9016457-G-T | c.3570G>T | p.A1190= | Synonymous | 29/36 | - | 1 |
12-9016460-T-A | c.3573T>A | p.A1191= | Synonymous | 29/36 | - | 1 |
12-9016460-T-C | c.3573T>C | p.A1191= | Synonymous | 29/36 | - | 1 |
12-9016460-T-G | c.3573T>G | p.A1191= | Synonymous | 29/36 | - | 1 |
12-9016464-G-C | c.3577G>C | p.D1193H | Missense | 29/36 | - | 1 |
12-9016468-T-C | c.3581T>C | p.V1194A | Missense | 29/36 | - | 2 |
12-9016477-C-G | c.3590C>G | p.T1197R | Missense | 29/36 | - | 5 |
12-9016485-GCA-TGT | c.3598_3600delinsTGT | p.A1200C | Missense | 29/36 | - | 1 |
12-9016488-T-C | c.3601T>C | p.L1201= | Synonymous | 29/36 | - | 3 |
12-9016494-G-T | c.3607G>T | p.A1203S | Missense | 29/36 | - | 1 |
12-9016495-C-A | c.3608C>A | p.A1203D | Missense | 29/36 | - | 1 |
12-9016495-C-T | c.3608C>T | p.A1203V | Missense | 29/36 | - | 2 |
12-9016496-C-A | c.3609C>A | p.A1203= | Synonymous | 29/36 | - | 2 |
12-9016496-C-G | c.3609C>G | p.A1203= | Synonymous | 29/36 | - | 2 |
12-9016496-C-T | c.3609C>T | p.A1203= | Synonymous | 29/36 | - | 2 |
12-9016502-T-A | c.3615T>A | p.L1205= | Synonymous | 29/36 | - | 1 |
12-9016502-T-C | c.3615T>C | p.L1205= | Synonymous | 29/36 | - | 1 |
12-9016502-T-G | c.3615T>G | p.L1205= | Synonymous | 29/36 | - | 1 |
12-9016504-C-A | c.3617C>A | p.T1206N | Missense | 29/36 | - | 1 |
12-9016510-C-G | c.3623C>G | p.P1208R | Missense | 29/36 | - | 1 |
12-9016514-C-T | c.3627C>T | p.S1209= | Synonymous | 29/36 | - | 3 |
12-9016515-C-A | c.3628C>A | p.L1210M | Missense | 29/36 | - | 3 |
12-9016518-A-G | c.3631A>G | p.T1211A | Missense | 29/36 | - | 1 |
12-9016525-A-C | c.3638A>C | p.K1213T | Missense | 29/36 | - | 1 |
12-9016527-G-A | c.3640G>A | p.E1214K | Missense | 29/36 | - | 1 |
12-9016534-C-T | c.3647C>T | p.A1216V | Missense | 29/36 | - | 5 |
12-9016535-G-A | c.3648G>A | p.A1216= | Synonymous | 29/36 | - | 4 |
12-9016543-C-A | c.3656C>A | p.T1219N | Missense | 29/36 | - | 4 |
12-9016548-A-C | c.3661A>C | p.I1221L | Missense | 29/36 | - | 1 |
12-9016548-A-T | c.3661A>T | p.I1221L | Missense | 29/36 | - | 1 |
12-9016551-G-A | c.3664G>A | p.V1222M | Missense | 29/36 | - | 2 |
12-9016557-T-C | c.3670T>C | p.W1224R | Missense | 29/36 | - | 1 |
12-9016558-G-T | c.3671G>T | p.W1224L | Missense | 29/36 | - | 1 |
12-9016562-G-T | c.3675G>T | p.L1225F | Missense | 29/36 | - | 1 |
12-9016563-G-A | c.3676G>A | p.A1226T | Missense | 29/36 | - | 1 |
12-9016563-GGC-G | c.3676_3677del | p.A1226Qfs*34 | Frameshift | 29/36 | - | 7 |
12-9016572-C-T | c.3685C>T | p.H1229Y | Missense | 29/36 | - | 1 |
12-9016573-A-G | c.3686A>G | p.H1229R | Missense | 29/36 | - | 29 |
12-9016573-A-T | c.3686A>T | p.H1229L | Missense | 29/36 | - | 29 |
12-9016578-G-A | c.3691G>A | p.A1231T | Missense | 29/36 | - | 1 |
12-9016584-G-A | c.3697G>A | p.G1233R | Missense | 29/36 | - | 1 |
12-9016584-G-T | c.3697G>T | p.G1233W | Missense | 29/36 | - | 1 |
12-9016585-G-A | c.3698G>A | p.G1233E | Missense | 29/36 | - | 1 |
12-9016585-G-C | c.3698G>C | p.G1233A | Missense | 29/36 | - | 1 |
12-9016586-G-A | c.3699G>A | p.G1233= | Synonymous | 29/36 | - | 3 |
12-9016586-G-T | c.3699G>T | p.G1233= | Synonymous | 29/36 | - | 1 |
12-9016583-TG-T | c.3701del | p.G1234Afs*9 | Frameshift | 29/36 | - | 1 |
12-9016595-T-G | c.3708T>G | p.S1236= | Synonymous | 29/36 | - | 1 |
12-9016597-C-A | c.3710C>A | p.S1237Y | Missense | 29/36 | - | 1 |
12-9016597-C-G | c.3710C>G | p.S1237C | Missense | 29/36 | - | 2 |
12-9016597-C-T | c.3710C>T | p.S1237F | Missense | 29/36 | - | 1 |
12-9016602-C-T | c.3715C>T | p.Q1239* | Nonsense | 29/36 | - | 1 |
12-9016604-G-A | c.3717G>A | p.Q1239= | Synonymous | 29/36 | - | 2 |
12-9016606-T-C | c.3717+2T>C | - | IntronicSNV | - | 29/35 | 1 |
12-9016665-G-C | c.3717+61G>C | - | IntronicSNV | - | 29/35 | 2 |
12-9016701-G-A | c.3717+97G>A | - | IntronicSNV | - | 29/35 | 1 |
12-9016805-T-G | c.3717+201T>G | - | IntronicSNV | - | 29/35 | 3 |
12-9018018-C-T | c.3717+1414C>T | - | IntronicSNV | - | 29/35 | 1 |
12-9020441-A-G | c.3721A>G | p.T1241A | Missense | 30/36 | - | 1 |
12-9020442-C-T | c.3722C>T | p.T1241I | Missense | 30/36 | - | 1 |
12-9020445-T-C | c.3725T>C | p.V1242A | Missense | 30/36 | - | 1 |
12-9020465-G-A | c.3745G>A | p.A1249T | Missense | 30/36 | - | 1 |
12-9020466-C-T | c.3746C>T | p.A1249V | Missense | 30/36 | - | 4 |
12-9020473-T-A | c.3753T>A | p.Y1251* | Nonsense | 30/36 | - | 1 |
12-9020473-T-G | c.3753T>G | p.Y1251* | Nonsense | 30/36 | - | 1 |
12-9020477-ACTAC-A | c.3759_3762del | p.T1254Pfs*12 | Frameshift | 30/36 | - | 1 |
12-9020482-C-A | c.3762C>A | p.T1254= | Synonymous | 30/36 | - | 1 |
12-9020482-C-G | c.3762C>G | p.T1254= | Synonymous | 30/36 | - | 1 |
12-9020482-C-T | c.3762C>T | p.T1254= | Synonymous | 30/36 | - | 2 |
12-9020483-G-A | c.3763G>A | p.A1255T | Missense | 30/36 | - | 1 |
12-9020484-C-T | c.3764C>T | p.A1255V | Missense | 30/36 | - | 1 |
12-9020488-C-A | c.3768C>A | p.Y1256* | Nonsense | 30/36 | - | 1 |
12-9020488-CA-TG | c.3768_3769inv | p.M1257V | Missense | 30/36 | - | 1 |
12-9020488-C-CG | c.3768_3769insG | p.M1257Dfs*4 | Frameshift | 30/36 | - | 1 |
12-9020488-C-T | c.3768C>T | p.Y1256= | Synonymous | 30/36 | - | 1 |
12-9020489-A-C | c.3769A>C | p.M1257L | Missense | 30/36 | - | 8 |
12-9020489-A-G | c.3769A>G | p.M1257V | Missense | 30/36 | - | 41 |
12-9020489-A-T | c.3769A>T | p.M1257L | Missense | 30/36 | - | 8 |
12-9020492-C-T | c.3772C>T | p.P1258S | Missense | 30/36 | - | 1 |
12-9020494-A-C | c.3774A>C | p.P1258= | Synonymous | 30/36 | - | 1 |
12-9020494-A-G | c.3774A>G | p.P1258= | Synonymous | 30/36 | - | 1 |
12-9020494-A-T | c.3774A>T | p.P1258= | Synonymous | 30/36 | - | 1 |
12-9020496-C-T | c.3776C>T | p.S1259F | Missense | 30/36 | - | 6 |
12-9020498-G-A | c.3778G>A | p.E1260K | Missense | 30/36 | - | 2 |
12-9020498-G-C | c.3778G>C | p.E1260Q | Missense | 30/36 | - | 1 |
12-9020500-G-A | c.3780G>A | p.E1260= | Synonymous | 30/36 | - | 2 |
12-9020503-G-A | c.3783G>A | p.E1261= | Synonymous | 30/36 | - | 1 |
12-9020504-A-G | c.3784A>G | p.I1262V | Missense | 30/36 | - | 1 |
12-9020506-C-G | c.3786C>G | p.I1262M | Missense | 30/36 | - | 4 |
12-9020507-A-G | c.3787A>G | p.N1263D | Missense | 30/36 | - | 1 |
12-9020509-C-G | c.3789C>G | p.N1263K | Missense | 30/36 | - | 1 |
12-9020511-T-C | c.3791T>C | p.L1264P | Missense | 30/36 | - | 1 |
12-9020527-T-A | c.3807T>A | p.T1269= | Synonymous | 30/36 | - | 1 |
12-9020527-T-C | c.3807T>C | p.T1269= | Synonymous | 30/36 | - | 2 |
12-9020527-T-G | c.3807T>G | p.T1269= | Synonymous | 30/36 | - | 1 |
12-9020536-C-T | c.3816C>T | p.F1272= | Synonymous | 30/36 | - | 2 |
12-9020539-G-C | c.3819G>C | p.Q1273H | Missense | 30/36 | - | 1 |
12-9020539-G-T | c.3819G>T | p.Q1273H | Missense | 30/36 | - | 1 |
12-9020540-C-A | c.3820C>A | p.R1274S | Missense | 30/36 | - | 1 |
12-9020540-C-T | c.3820C>T | p.R1274C | Missense | 30/36 | - | 1 |
12-9020541-G-A | c.3821G>A | p.R1274H | Missense | 30/36 | - | 3 |
12-9020543-A-G | c.3823A>G | p.T1275A | Missense | 30/36 | - | 4 |
12-9020544-C-T | c.3824C>T | p.T1275I | Missense | 30/36 | - | 1 |
12-9020556-A-G | c.3836A>G | p.Q1279R | Missense | 30/36 | - | 1 |
12-9020559-C-T | c.3839C>T | p.S1280L | Missense | 30/36 | - | 2 |
12-9020561-G-A | c.3841G>A | p.V1281I | Missense | 30/36 | - | 1 |
12-9020563-T-A | c.3843T>A | p.V1281= | Synonymous | 30/36 | - | 6 |
12-9020563-T-C | c.3843T>C | p.V1281= | Synonymous | 30/36 | - | 6 |
12-9020566-C-A | c.3846C>A | p.N1282K | Missense | 30/36 | - | 1 |
12-9020567-A-C | c.3847A>C | p.R1283= | Synonymous | 30/36 | - | 1 |
12-9020569-A-G | c.3849A>G | p.R1283= | Synonymous | 30/36 | - | 2 |
12-9020573-G-T | c.3853G>T | p.V1285L | Missense | 30/36 | - | 1 |
12-9020574-T-G | c.3854T>G | p.V1285G | Missense | 30/36 | - | 1 |
12-9020579-C-T | c.3859C>T | p.Q1287* | Nonsense | 30/36 | - | 2 |
12-9020584-G-A | c.3864G>A | p.Q1288= | Synonymous | 30/36 | - | 3 |
12-9020585-G-A | c.3865G>A | p.D1289N | Missense | 30/36 | - | 1 |
12-9020588-A-T | c.3868A>T | p.T1290S | Missense | 30/36 | - | 1 |
12-9020589-C-G | c.3869C>G | p.T1290S | Missense | 30/36 | - | 2 |
12-9020598-A-G | c.3878A>G | p.N1293S | Missense | 30/36 | - | 2 |
12-9020600-G-A | c.3880G>A | p.V1294I | Missense | 30/36 | - | 2 |
12-9020600-G-T | c.3880G>T | p.V1294F | Missense | 30/36 | - | 1 |
12-9020602-C-A | c.3882C>A | p.V1294= | Synonymous | 30/36 | - | 1 |
12-9020602-C-G | c.3882C>G | p.V1294= | Synonymous | 30/36 | - | 1 |
12-9020602-C-T | c.3882C>T | p.V1294= | Synonymous | 30/36 | - | 1 |
12-9020603-C-T | c.3883C>T | p.P1295S | Missense | 30/36 | - | 4 |
12-9020604-C-A | c.3884C>A | p.P1295H | Missense | 30/36 | - | 2 |
12-9020606-G-A | c.3886G>A | p.G1296R | Missense | 30/36 | - | 1 |
12-9020613-A-G | c.3893A>G | p.Y1298C | Missense | 30/36 | - | 2 |
12-9020616-C-T | c.3896C>T | p.T1299M | Missense | 30/36 | - | 1 |
12-9020617-G-A | c.3897G>A | p.T1299= | Synonymous | 30/36 | - | 1 |
12-9020617-G-C | c.3897G>C | p.T1299= | Synonymous | 30/36 | - | 1 |
12-9020617-G-T | c.3897G>T | p.T1299= | Synonymous | 30/36 | - | 1 |
12-9020619-T-C | c.3899T>C | p.L1300S | Missense | 30/36 | - | 1 |
12-9020623-G-C | c.3903G>C | p.E1301D | Missense | 30/36 | - | 6 |
12-9020628-C-T | c.3908C>T | p.S1303L | Missense | 30/36 | - | 3 |
12-9020630-G-T | c.3910G>T | p.G1304C | Missense | 30/36 | - | 1 |
12-9020631-G-A | c.3911G>A | p.G1304D | Missense | 30/36 | - | 4 |
12-9020633-C-T | c.3913C>T | p.Q1305* | Nonsense | 30/36 | - | 1 |
12-9020637-G-T | c.3917G>T | p.G1306V | Missense | 30/36 | - | 1 |
12-9020638-C-A | c.3918C>A | p.G1306= | Synonymous | 30/36 | - | 1 |
12-9020640-G-T | c.3920G>T | p.C1307F | Missense | 30/36 | - | 1 |
12-9020648-G-C | c.3928G>C | p.V1310L | Missense | 30/36 | - | 1 |
12-9020652-A-G | c.3932A>G | p.Q1311R | Missense | 30/36 | - | 1 |
12-9020657-A-G | c.3933+4A>G | - | IntronicSNV | - | 30/35 | 1 |
12-9020680-G-A | c.3933+27G>A | - | IntronicSNV | - | 30/35 | 3 |
12-9020794-G-C | c.3934-32G>C | - | IntronicSNV | - | 30/35 | 2 |
12-9020796-C-G | c.3934-30C>G | - | IntronicSNV | - | 30/35 | 2 |
12-9020796-C-T | c.3934-30C>T | - | IntronicSNV | - | 30/35 | 2 |
12-9020827-C-T | c.3935C>T | p.T1312M | Missense | 31/36 | - | 2 |
12-9020829-G-A | c.3937G>A | p.V1313M | Missense | 31/36 | - | 4 |
12-9020849-C-T | c.3957C>T | p.L1319= | Synonymous | 31/36 | - | 1 |
12-9020850-C-A | c.3958C>A | p.P1320T | Missense | 31/36 | - | 1 |
12-9020850-C-T | c.3958C>T | p.P1320S | Missense | 31/36 | - | 1 |
12-9020851-C-T | c.3959C>T | p.P1320L | Missense | 31/36 | - | 1 |
12-9020853-C-T | c.3961C>T | p.P1321S | Missense | 31/36 | - | 1 |
12-9020854-C-T | c.3962C>T | p.P1321L | Missense | 31/36 | - | 2 |
12-9020857-C-A | c.3965C>A | p.T1322K | Missense | 31/36 | - | 1 |
12-9020857-C-T | c.3965C>T | p.T1322I | Missense | 31/36 | - | 1 |
12-9020859-A-C | c.3967A>C | p.N1323H | Missense | 31/36 | - | 1 |
12-9020859-A-T | c.3967A>T | p.N1323Y | Missense | 31/36 | - | 1 |
12-9020864-G-A | c.3972G>A | p.M1324I | Missense | 31/36 | - | 2 |
12-9020864-G-C | c.3972G>C | p.M1324I | Missense | 31/36 | - | 2 |
12-9020864-G-T | c.3972G>T | p.M1324I | Missense | 31/36 | - | 2 |
12-9020871-T-G | c.3979T>G | p.F1327V | Missense | 31/36 | - | 4 |
12-9020884-T-A | c.3992T>A | p.V1331E | Missense | 31/36 | - | 1 |
12-9020886-G-T | c.3994G>T | p.E1332* | Nonsense | 31/36 | - | 1 |
12-9020892-G-A | c.4000G>A | p.G1334R | Missense | 31/36 | - | 1 |
12-9020893-G-A | c.4001G>A | p.G1334E | Missense | 31/36 | - | 4 |
12-9020896-A-G | c.4004A>G | p.K1335R | Missense | 31/36 | - | 1 |
12-9020897-A-G | c.4005A>G | p.K1335= | Synonymous | 31/36 | - | 2 |
12-9020899-C-G | c.4007C>G | p.A1336G | Missense | 31/36 | - | 2 |
12-9020901-A-G | c.4009A>G | p.R1337G | Missense | 31/36 | - | 1 |
12-9020903-A-T | c.4011A>T | p.R1337S | Missense | 31/36 | - | 1 |
12-9020907-G-A | c.4015G>A | p.E1339K | Missense | 31/36 | - | 1 |
12-9020910-C-A | c.4018C>A | p.Q1340K | Missense | 31/36 | - | 2 |
12-9020910-C-T | c.4018C>T | p.Q1340* | Nonsense | 31/36 | - | 1 |
12-9020912-A-G | c.4020A>G | p.Q1340= | Synonymous | 31/36 | - | 24 |
12-9020914-C-A | c.4022C>A | p.P1341Q | Missense | 31/36 | - | 5 |
12-9020914-C-T | c.4022C>T | p.P1341L | Missense | 31/36 | - | 9 |
12-9020915-G-A | c.4023G>A | p.P1341= | Synonymous | 31/36 | - | 1 |
12-9020915-G-C | c.4023G>C | p.P1341= | Synonymous | 31/36 | - | 1 |
12-9020915-G-T | c.4023G>T | p.P1341= | Synonymous | 31/36 | - | 1 |
12-9020917-C-T | c.4025C>T | p.T1342I | Missense | 31/36 | - | 2 |
12-9020922-C-T | c.4030C>T | p.P1344S | Missense | 31/36 | - | 1 |
12-9020925-C-T | c.4033C>T | p.R1345* | Nonsense | 31/36 | - | 5 |
12-9020926-G-A | c.4034G>A | p.R1345Q | Missense | 31/36 | - | 6 |
12-9020930-C-A | c.4038C>A | p.S1346= | Synonymous | 31/36 | - | 1 |
12-9020930-C-G | c.4038C>G | p.S1346= | Synonymous | 31/36 | - | 1 |
12-9020930-C-T | c.4038C>T | p.S1346= | Synonymous | 31/36 | - | 1 |
12-9020932-T-G | c.4040T>G | p.L1347W | Missense | 31/36 | - | 2 |
12-9020937-C-G | c.4045C>G | p.L1349V | Missense | 31/36 | - | 1 |
12-9020948-C-T | c.4056C>T | p.H1352= | Synonymous | 31/36 | - | 2 |
12-9020954-G-A | c.4061+1G>A | - | IntronicSNV | - | 31/35 | 6 |
12-9020954-G-C | c.4061+1G>C | - | IntronicSNV | - | 31/35 | 3 |
12-9021021-T-C | c.4061+68T>C | - | IntronicSNV | - | 31/35 | 2 |
12-9021034-C-G | c.4061+81C>G | - | IntronicSNV | - | 31/35 | 3 |
12-9021040-A-G | c.4061+87A>G | - | IntronicSNV | - | 31/35 | 3 |
12-9021052-A-G | c.4062-81A>G | - | IntronicSNV | - | 31/35 | 1 |
12-9021053-C-CAT | c.4062-80_4062-79insAT | - | IntronicInsertion | - | 31/35 | 1 |
12-9021053-C-CATGT | c.4062-80_4062-79insATGT | - | IntronicInsertion | - | 31/35 | 1 |
12-9021053-C-T | c.4062-80C>T | - | IntronicSNV | - | 31/35 | 2 |
12-9021061-T-TTGTG | c.4062-72_4062-71insTGTG | - | IntronicInsertion | - | 31/35 | 1 |
12-9021141-G-A | c.4070G>A | p.G1357E | Missense | 32/36 | - | 3 |
12-9021138-T-TG | c.4071dup | p.S1358Efs*3 | Frameshift | 32/36 | - | 3 |
12-9021142-G-A | c.4071G>A | p.G1357= | Synonymous | 32/36 | - | 1 |
12-9021142-G-T | c.4071G>T | p.G1357= | Synonymous | 32/36 | - | 1 |
12-9021146-C-A | c.4075C>A | p.R1359S | Missense | 32/36 | - | 1 |
12-9021147-G-A | c.4076G>A | p.R1359H | Missense | 32/36 | - | 7 |
12-9021150-G-T | c.4079G>T | p.S1360I | Missense | 32/36 | - | 1 |
12-9021152-T-G | c.4081T>G | p.S1361A | Missense | 32/36 | - | 1 |
12-9021153-C-T | c.4082C>T | p.S1361F | Missense | 32/36 | - | 1 |
12-9021162-T-C | c.4091T>C | p.M1364T | Missense | 32/36 | - | 1 |
12-9021165-C-T | c.4094C>T | p.A1365V | Missense | 32/36 | - | 1 |
12-9021189-C-A | c.4118C>A | p.S1373Y | Missense | 32/36 | - | 2 |
12-9021191-G-T | c.4120G>T | p.G1374W | Missense | 32/36 | - | 2 |
12-9021194-T-C | c.4123T>C | p.F1375L | Missense | 32/36 | - | 3 |
12-9021196-C-A | c.4125C>A | p.F1375L | Missense | 32/36 | - | 2 |
12-9021196-C-G | c.4125C>G | p.F1375L | Missense | 32/36 | - | 3 |
12-9021200-C-G | c.4129C>G | p.P1377A | Missense | 32/36 | - | 1 |
12-9021201-C-T | c.4130C>T | p.P1377L | Missense | 32/36 | - | 2 |
12-9021203-A-G | c.4132A>G | p.M1378V | Missense | 32/36 | - | 1 |
12-9021205-G-A | c.4134G>A | p.M1378I | Missense | 32/36 | - | 1 |
12-9021206-G-A | c.4135G>A | p.E1379K | Missense | 32/36 | - | 1 |
12-9021217-T-A | c.4146T>A | p.N1382K | Missense | 32/36 | - | 1 |
12-9021217-T-G | c.4146T>G | p.N1382K | Missense | 32/36 | - | 2 |
12-9021218-C-T | c.4147C>T | p.Q1383* | Nonsense | 32/36 | - | 1 |
12-9021247-T-C | c.4152+24T>C | - | IntronicSNV | - | 32/35 | 1 |
12-9021256-C-T | c.4152+33C>T | - | IntronicSNV | - | 32/35 | 5 |
12-9021265-G-A | c.4152+42G>A | - | IntronicSNV | - | 32/35 | 1 |
12-9021265-G-T | c.4152+42G>T | - | IntronicSNV | - | 32/35 | 1 |
12-9021283-A-T | c.4152+60A>T | - | IntronicSNV | - | 32/35 | 2 |
12-9021326-C-CCA | c.4152+103_4152+104insCA | - | IntronicInsertion | - | 32/35 | 1 |
12-9021330-C-CAA | c.4152+108_4152+109dup | - | IntronicInsertion | - | 32/35 | 1 |
12-9021525-C-A | c.4153-206C>A | - | IntronicSNV | - | 32/35 | 2 |
12-9021732-T-C | c.4154T>C | p.L1385P | Missense | 33/36 | - | 1 |
12-9021734-C-T | c.4156C>T | p.L1386F | Missense | 33/36 | - | 1 |
12-9021736-C-T | c.4158C>T | p.L1386= | Synonymous | 33/36 | - | 1 |
12-9021737-C-T | c.4159C>T | p.Q1387* | Nonsense | 33/36 | - | 1 |
12-9021740-C-A | c.4162C>A | p.Q1388K | Missense | 33/36 | - | 1 |
12-9021745-C-A | c.4167C>A | p.P1389= | Synonymous | 33/36 | - | 1 |
12-9021745-C-G | c.4167C>G | p.P1389= | Synonymous | 33/36 | - | 1 |
12-9021745-C-T | c.4167C>T | p.P1389= | Synonymous | 33/36 | - | 1 |
12-9021746-CTG-TTT | c.4168_4170delinsTTT | p.L1390F | Missense | 33/36 | - | 1 |
12-9021749-G-C | c.4171G>C | p.V1391L | Missense | 33/36 | - | 2 |
12-9021749-G-T | c.4171G>T | p.V1391L | Missense | 33/36 | - | 1 |
12-9021756-A-C | c.4178A>C | p.K1393T | Missense | 33/36 | - | 1 |
12-9021758-G-A | c.4180G>A | p.V1394I | Missense | 33/36 | - | 1 |
12-9021759-T-C | c.4181T>C | p.V1394A | Missense | 33/36 | - | 3 |
12-9021761-G-A | c.4183G>A | p.E1395K | Missense | 33/36 | - | 3 |
12-9021767-G-A | c.4189G>A | p.G1397R | Missense | 33/36 | - | 2 |
12-9021768-G-A | c.4190G>A | p.G1397E | Missense | 33/36 | - | 1 |
12-9021768-G-C | c.4190G>C | p.G1397A | Missense | 33/36 | - | 1 |
12-9021778-A-T | c.4200A>T | p.T1400= | Synonymous | 33/36 | - | 1 |
12-9021782-A-G | c.4204A>G | p.N1402D | Missense | 33/36 | - | 3 |
12-9021783-A-G | c.4205A>G | p.N1402S | Missense | 33/36 | - | 1 |
12-9021791-T-G | c.4213T>G | p.L1405V | Missense | 33/36 | - | 1 |
12-9021795-A-G | c.4217A>G | p.D1406G | Missense | 33/36 | - | 1 |
12-9021796-T-A | c.4218T>A | p.D1406E | Missense | 33/36 | - | 1 |
12-9021796-T-G | c.4218T>G | p.D1406E | Missense | 33/36 | - | 1 |
12-9021797-G-A | c.4219G>A | p.E1407K | Missense | 33/36 | - | 2 |
12-9027028-A-G | c.4229A>G | p.K1410R | Missense | 34/36 | - | 3 |
12-9027033-A-G | c.4234A>G | p.T1412A | Missense | 34/36 | - | 4 |
12-9027033-A-T | c.4234A>T | p.T1412S | Missense | 34/36 | - | 2 |
12-9027034-C-T | c.4235C>T | p.T1412I | Missense | 34/36 | - | 1 |
12-9027036-C-G | c.4237C>G | p.Q1413E | Missense | 34/36 | - | 3 |
12-9027043-A-C | c.4244A>C | p.Y1415S | Missense | 34/36 | - | 8 |
12-9027044-C-T | c.4245C>T | p.Y1415= | Synonymous | 34/36 | - | 2 |
12-9027060-C-T | c.4261C>T | p.Q1421* | Nonsense | 34/36 | - | 4 |
12-9027063-A-G | c.4264A>G | p.S1422G | Missense | 34/36 | - | 2 |
12-9027068-G-T | c.4269G>T | p.V1423= | Synonymous | 34/36 | - | 1 |
12-9027081-T-A | c.4282T>A | p.L1428M | Missense | 34/36 | - | 2 |
12-9027091-C-A | c.4292C>A | p.A1431E | Missense | 34/36 | - | 1 |
12-9027091-C-T | c.4292C>T | p.A1431V | Missense | 34/36 | - | 4 |
12-9027104-C-A | c.4305C>A | p.V1435= | Synonymous | 34/36 | - | 1 |
12-9027104-C-G | c.4305C>G | p.V1435= | Synonymous | 34/36 | - | 1 |
12-9027104-C-T | c.4305C>T | p.V1435= | Synonymous | 34/36 | - | 3 |
12-9027109-A-C | c.4310A>C | p.D1437A | Missense | 34/36 | - | 2 |
12-9027116-C-A | c.4317C>A | p.Y1439* | Nonsense | 34/36 | - | 3 |
12-9027116-C-G | c.4317C>G | p.Y1439* | Nonsense | 34/36 | - | 1 |
12-9027125-T-C | c.4324+2T>C | - | IntronicSNV | - | 34/35 | 1 |
12-9027126-G-A | c.4324+3G>A | - | IntronicSNV | - | 34/35 | 1 |
12-9027360-A-G | c.4325-207A>G | - | IntronicSNV | - | 34/35 | 1 |
12-9027429-A-G | c.4325-138A>G | - | IntronicSNV | - | 34/35 | 1 |
12-9027572-C-T | c.4330C>T | p.Q1444* | Nonsense | 35/36 | - | 1 |
12-9027579-C-A | c.4337C>A | p.T1446K | Missense | 35/36 | - | 1 |
12-9027581-A-G | c.4339A>G | p.I1447V | Missense | 35/36 | - | 1 |
12-9027581-A-T | c.4339A>T | p.I1447F | Missense | 35/36 | - | 1 |
12-9027584-C-A | c.4342C>A | p.Q1448K | Missense | 35/36 | - | 1 |
12-9027591-C-A | c.4349C>A | p.S1450Y | Missense | 35/36 | - | 1 |
12-9027596-C-T | c.4354C>T | p.P1452S | Missense | 35/36 | - | 4 |
12-9027597-C-T | c.4355C>T | p.P1452L | Missense | 35/36 | - | 1 |
12-9027603-A-G | c.4361A>G | p.E1454G | Missense | 35/36 | - | 1 |
12-9027713-C-T | c.*1+105C>T | - | IntronicSNV | - | 35/35 | 1 |
12-9028081-C-G | c.*1+473C>G | - | IntronicSNV | - | 35/35 | 1 |
12-9028081-C-T | c.*1+473C>T | - | IntronicSNV | - | 35/35 | 1 |
12-9028872-G-A | c.*220G>A | - | 3_prime_UTR_variant | 36/36 | - | 3 |
12-9029118-G-A | c.*466G>A | - | 3_prime_UTR_variant | 36/36 | - | 2 |