Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
3-43732440-T-A | c.-45T>A | - | 5-UTRSNV | 1/7 | - | 1 |
3-43732466-C-T | c.-19C>T | - | 5-UTRSNV | 1/7 | - | 3 |
3-43732487-G-A | c.3G>A | p.M1? | Missense | 1/7 | - | 1 |
3-43732488-G-A | c.4G>A | p.A2T | Missense | 1/7 | - | 1 |
3-43732492-C-A | c.8C>A | p.A3E | Missense | 1/7 | - | 1 |
3-43732494-G-A | c.10G>A | p.E4K | Missense | 1/7 | - | 1 |
3-43732494-G-T | c.10G>T | p.E4* | Nonsense | 1/7 | - | 1 |
3-43732495-A-C | c.11A>C | p.E4A | Missense | 1/7 | - | 1 |
3-43732496-G-A | c.12G>A | p.E4= | Synonymous | 1/7 | - | 3 |
3-43732496-G-C | c.12G>C | p.E4D | Missense | 1/7 | - | 2 |
3-43732496-G-T | c.12G>T | p.E4D | Missense | 1/7 | - | 3 |
3-43732499-G-C | c.15G>C | p.E5D | Missense | 1/7 | - | 1 |
3-43732499-G-T | c.15G>T | p.E5D | Missense | 1/7 | - | 1 |
3-43732500-G-A | c.16G>A | p.E6K | Missense | 1/7 | - | 1 |
3-43732503-G-A | c.19G>A | p.E7K | Missense | 1/7 | - | 7 |
3-43732506-G-C | c.22G>C | p.V8L | Missense | 1/7 | - | 1 |
3-43732507-T-A | c.23T>A | p.V8E | Missense | 1/7 | - | 1 |
3-43732507-T-C | c.23T>C | p.V8A | Missense | 1/7 | - | 1 |
3-43732507-T-G | c.23T>G | p.V8G | Missense | 1/7 | - | 1 |
3-43732510-A-G | c.26A>G | p.D9G | Missense | 1/7 | - | 1 |
3-43732510-A-T | c.26A>T | p.D9V | Missense | 1/7 | - | 1 |
3-43732512-TC-GA | c.28_29inv | p.S10D | Missense | 1/7 | - | 1 |
3-43732512-TC-GG | c.28_29delinsGG | p.S10G | Missense | 1/7 | - | 1 |
3-43732512-TCT-GAG | c.28_30delinsGAG | p.S10E | Missense | 1/7 | - | 1 |
3-43732512-T-G | c.28T>G | p.S10A | Missense | 1/7 | - | 5 |
3-43732513-C-G | c.29C>G | p.S10C | Missense | 1/7 | - | 1 |
3-43732515-GCC-TAA | c.31_33delinsTAA | p.A11* | Nonsense | 1/7 | - | 1 |
3-43732516-CC-AG | c.32_33delinsAG | p.A11E | Missense | 1/7 | - | 1 |
3-43732516-C-T | c.32C>T | p.A11V | Missense | 1/7 | - | 1 |
3-43732523-C-A | c.39C>A | p.T13= | Synonymous | 1/7 | - | 3 |
3-43732523-C-G | c.39C>G | p.T13= | Synonymous | 1/7 | - | 2 |
3-43732523-C-T | c.39C>T | p.T13= | Synonymous | 1/7 | - | 5 |
3-43732524-G-T | c.40G>T | p.G14* | Nonsense | 1/7 | - | 1 |
3-43732525-G-C | c.41G>C | p.G14A | Missense | 1/7 | - | 1 |
3-43732528-A-AG | c.45dup | p.R16Efs*21 | SpliceDonorInsertion | 1/7 | - | 2 |
3-43732529-G-GC | c.45_46insC | p.R16Qfs*21 | SpliceDonorInsertion | 1/7 | - | 2 |
3-43732529-G-GT | c.45_46insT | p.R16* | SpliceDonorInsertion | 1/7 | - | 2 |
3-43732529-G-GA | c.46dup | p.R16Kfs*21 | SpliceDonorInsertion | 1/7 | - | 2 |
3-43732530-AG-CA | c.46_47delinsCA | p.R16Q | Missense | 1/7 | - | 1 |
3-43732532-G-A | c.47+1G>A | - | IntronicSNV | - | 1/6 | 2 |
3-43732537-C-G | c.47+6C>G | - | IntronicSNV | - | 1/6 | 1 |
3-43732590-G-A | c.47+59G>A | - | IntronicSNV | - | 1/6 | 1 |
3-43732593-T-A | c.47+62T>A | - | IntronicSNV | - | 1/6 | 1 |
3-43732605-G-A | c.47+74G>A | - | IntronicSNV | - | 1/6 | 1 |
3-43732849-T-G | c.47+318T>G | - | IntronicSNV | - | 1/6 | 1 |
3-43733184-A-G | c.47+653A>G | - | IntronicSNV | - | 1/6 | 1 |
3-43733184-A-T | c.47+653A>T | - | IntronicSNV | - | 1/6 | 1 |
3-43732530-A-C | c.46A>C | p.R16= | Synonymous | 1/7 | - | 2 |
3-43740766-AG-A | c.48del | p.R16Sfs*5 | Frameshift | 2/7 | - | 2 |
3-43740768-G-A | c.48G>A | p.R16= | Synonymous | 2/7 | - | 3 |
3-43740769-TCA-GAC | c.49_51delinsGAC | p.S17D | Missense | 2/7 | - | 1 |
3-43740769-T-G | c.49T>G | p.S17A | Missense | 2/7 | - | 1 |
3-43740769-T-TAA | c.49_50insAA | p.S17* | SpliceAcceptorInsertion | 2/7 | - | 1 |
3-43740770-C-A | c.50C>A | p.S17* | Nonsense | 2/7 | - | 2 |
3-43740770-C-G | c.50C>G | p.S17* | Nonsense | 2/7 | - | 2 |
3-43740770-C-T | c.50C>T | p.S17L | Missense | 2/7 | - | 4 |
3-43740770-TC-T | c.50del | p.S17* | Frameshift | 2/7 | - | 1 |
3-43740772-G-T | c.52G>T | p.G18* | Nonsense | 2/7 | - | 1 |
3-43740775-TG-GC | c.55_56delinsGC | p.W19A | Missense | 2/7 | - | 1 |
3-43740776-G-A | c.56G>A | p.W19* | Nonsense | 2/7 | - | 1 |
3-43740777-G-A | c.57G>A | p.W19* | Nonsense | 2/7 | - | 1 |
3-43740783-T-A | c.63T>A | p.T21= | Synonymous | 2/7 | - | 1 |
3-43740783-T-C | c.63T>C | p.T21= | Synonymous | 2/7 | - | 1 |
3-43740783-T-G | c.63T>G | p.T21= | Synonymous | 2/7 | - | 1 |
3-43740790-C-T | c.70C>T | p.L24F | Missense | 2/7 | - | 1 |
3-43740799-T-A | c.79T>A | p.W27R | Missense | 2/7 | - | 3 |
3-43740799-T-C | c.79T>C | p.W27R | Missense | 2/7 | - | 1 |
3-43740799-TG-GC | c.79_80delinsGC | p.W27A | Missense | 2/7 | - | 1 |
3-43740809-C-T | c.89C>T | p.T30M | Missense | 2/7 | - | 1 |
3-43740810-G-A | c.90G>A | p.T30= | Synonymous | 2/7 | - | 2 |
3-43740810-G-C | c.90G>C | p.T30= | Synonymous | 2/7 | - | 2 |
3-43740810-G-T | c.90G>T | p.T30= | Synonymous | 2/7 | - | 2 |
3-43740814-A-T | c.94A>T | p.I32L | Missense | 2/7 | - | 1 |
3-43740817-T-A | c.97T>A | p.S33T | Missense | 2/7 | - | 1 |
3-43740817-TC-GA | c.97_98inv | p.S33E | Missense | 2/7 | - | 1 |
3-43740817-T-G | c.97T>G | p.S33A | Missense | 2/7 | - | 1 |
3-43740818-C-A | c.98C>A | p.S33* | Nonsense | 2/7 | - | 2 |
3-43740818-CA-AT | c.98_99delinsAT | p.S33Y | Missense | 2/7 | - | 1 |
3-43740818-C-G | c.98C>G | p.S33* | Nonsense | 2/7 | - | 3 |
3-43740820-C-T | c.100C>T | p.H34Y | Missense | 2/7 | - | 1 |
3-43740823-C-T | c.103C>T | p.L35F | Missense | 2/7 | - | 2 |
3-43740832-G-A | c.112G>A | p.A38T | Missense | 2/7 | - | 1 |
3-43740836-A-G | c.116A>G | p.E39G | Missense | 2/7 | - | 1 |
3-43740837-A-T | c.117A>T | p.E39D | Missense | 2/7 | - | 1 |
3-43740840-G-A | c.120G>A | p.E40= | Synonymous | 2/7 | - | 1 |
3-43740840-G-C | c.120G>C | p.E40D | Missense | 2/7 | - | 1 |
3-43743719-CA-TG | c.146_147inv | p.T49M | Missense | 3/7 | - | 1 |
3-43743720-A-C | c.147A>C | p.T49= | Synonymous | 3/7 | - | 1 |
3-43743720-A-G | c.147A>G | p.T49= | Synonymous | 3/7 | - | 1 |
3-43743720-A-T | c.147A>T | p.T49= | Synonymous | 3/7 | - | 1 |
3-43743726-A-AT | c.153_154insT | p.K52* | Nonsense | 3/7 | - | 1 |
3-43743730-G-T | c.157G>T | p.E53* | Nonsense | 3/7 | - | 1 |
3-43743731-A-C | c.158A>C | p.E53A | Missense | 3/7 | - | 3 |
3-43743739-C-T | c.166C>T | p.R56C | Missense | 3/7 | - | 4 |
3-43743740-G-A | c.167G>A | p.R56H | Missense | 3/7 | - | 2 |
3-43743740-GT-AA | c.167_168delinsAA | p.R56Q | Missense | 3/7 | - | 1 |
3-43743750-T-G | c.177T>G | p.N59K | Missense | 3/7 | - | 1 |
3-43743752-G-C | c.179G>C | p.G60A | Missense | 3/7 | - | 1 |
3-43743753-A-C | c.180A>C | p.G60= | Synonymous | 3/7 | - | 1 |
3-43743753-A-G | c.180A>G | p.G60= | Synonymous | 3/7 | - | 1 |
3-43743753-A-T | c.180A>T | p.G60= | Synonymous | 3/7 | - | 1 |
3-43743754-A-G | c.181A>G | p.N61D | Missense | 3/7 | - | 1 |
3-43743761-T-C | c.188T>C | p.I63T | Missense | 3/7 | - | 1 |
3-43743764-G-A | c.191G>A | p.W64* | Nonsense | 3/7 | - | 2 |
3-43743765-G-A | c.192G>A | p.W64* | Nonsense | 3/7 | - | 1 |
3-43743766-A-G | c.193A>G | p.T65A | Missense | 3/7 | - | 2 |
3-43743766-A-T | c.193A>T | p.T65S | Missense | 3/7 | - | 1 |
3-43743769-C-T | c.196C>T | p.L66= | Synonymous | 3/7 | - | 1 |
3-43743771-G-A | c.198G>A | p.L66= | Synonymous | 3/7 | - | 1 |
3-43743771-G-C | c.198G>C | p.L66= | Synonymous | 3/7 | - | 1 |
3-43743771-G-T | c.198G>T | p.L66= | Synonymous | 3/7 | - | 1 |
3-43743772-A-G | c.199A>G | p.K67E | Missense | 3/7 | - | 1 |
3-43743777-C-A | c.204C>A | p.F68L | Missense | 3/7 | - | 1 |
3-43743779-C-G | c.206C>G | p.S69C | Missense | 3/7 | - | 2 |
3-43743779-C-T | c.206C>T | p.S69F | Missense | 3/7 | - | 4 |
3-43743780-T-A | c.207T>A | p.S69= | Synonymous | 3/7 | - | 1 |
3-43743780-T-C | c.207T>C | p.S69= | Synonymous | 3/7 | - | 1 |
3-43743780-T-G | c.207T>G | p.S69= | Synonymous | 3/7 | - | 1 |
3-43743782-A-T | c.209A>T | p.H70L | Missense | 3/7 | - | 1 |
3-43743784-A-AAATATTTCAAATAAG | c.212_213insATATTTCAAATAAGA | p.N71delinsKYFK* | Frameshift | 3/7 | - | 1 |
3-43743788-T-C | c.215T>C | p.I72T | Missense | 3/7 | - | 3 |
3-43743791-C-T | c.218C>T | p.S73L | Missense | 3/7 | - | 2 |
3-43743794-A-G | c.221A>G | p.N74S | Missense | 3/7 | - | 1 |
3-43743797-A-G | c.224A>G | p.K75R | Missense | 3/7 | - | 1 |
3-43743798-G-A | c.225G>A | p.K75= | Synonymous | 3/7 | - | 1 |
3-43743803-C-A | c.230C>A | p.P77Q | Missense | 3/7 | - | 1 |
3-43743811-C-T | c.238C>T | p.L80F | Missense | 3/7 | - | 2 |
3-43743817-CAT-AAG | c.244_246delinsAAG | p.H82K | Missense | 3/7 | - | 1 |
3-43743818-A-G | c.245A>G | p.H82R | Missense | 3/7 | - | 3 |
3-43743818-A-T | c.245A>T | p.H82L | Missense | 3/7 | - | 1 |
3-43743820-G-A | c.247G>A | p.G83S | Missense | 3/7 | - | 1 |
3-43743826-G-A | c.253G>A | p.G85R | Missense | 3/7 | - | 1 |
3-43743827-G-A | c.254G>A | p.G85E | Missense | 3/7 | - | 1 |
3-43743829-G-A | c.256G>A | p.G86R | Missense | 3/7 | - | 2 |
3-43743829-G-C | c.256G>C | p.G86R | Missense | 3/7 | - | 2 |
3-43743829-G-T | c.256G>T | p.G86* | Nonsense | 3/7 | - | 1 |
3-43743830-G-A | c.257G>A | p.G86E | Missense | 3/7 | - | 1 |
3-43743833-G-T | c.260G>T | p.G87V | Missense | 3/7 | - | 1 |
3-43743835-C-G | c.262C>G | p.L88V | Missense | 3/7 | - | 1 |
3-43743851-T-C | c.278T>C | p.L93P | Missense | 3/7 | - | 1 |
3-43743852-G-A | c.279G>A | p.L93= | Synonymous | 3/7 | - | 5 |
3-43743874-A-G | c.301A>G | p.N101D | Missense | 3/7 | - | 1 |
3-43743875-A-G | c.302A>G | p.N101S | Missense | 3/7 | - | 1 |
3-43743878-G-A | c.305G>A | p.R102K | Missense | 3/7 | - | 1 |
3-43743887-A-G | c.314A>G | p.Y105C | Missense | 3/7 | - | 1 |
3-43743888-T-A | c.315T>A | p.Y105* | Nonsense | 3/7 | - | 1 |
3-43743890-C-A | c.317C>A | p.A106D | Missense | 3/7 | - | 1 |
3-43743890-C-T | c.317C>T | p.A106V | Missense | 3/7 | - | 1 |
3-43743903-G-C | c.330G>C | p.L110F | Missense | 3/7 | - | 1 |
3-43743903-G-T | c.330G>T | p.L110F | Missense | 3/7 | - | 2 |
3-43743905-G-A | c.332G>A | p.G111D | Missense | 3/7 | - | 1 |
3-43743905-G-C | c.332G>C | p.G111A | Missense | 3/7 | - | 1 |
3-43743910-GGA-AGC | c.337_339delinsAGC | p.G113S | Missense | 3/7 | - | 2 |
3-43743912-A-C | c.339A>C | p.G113= | Synonymous | 3/7 | - | 1 |
3-43743912-A-G | c.339A>G | p.G113= | Synonymous | 3/7 | - | 1 |
3-43743912-A-T | c.339A>T | p.G113= | Synonymous | 3/7 | - | 1 |
3-43743913-C-T | c.340C>T | p.R114* | Nonsense | 3/7 | - | 3 |
3-43743914-G-A | c.341G>A | p.R114Q | Missense | 3/7 | - | 4 |
3-43743914-G-T | c.341G>T | p.R114L | Missense | 3/7 | - | 11 |
3-43743916-A-G | c.343A>G | p.S115G | Missense | 3/7 | - | 5 |
3-43743917-G-A | c.344G>A | p.S115N | Missense | 3/7 | - | 1 |
3-43743919-AGT-TGA | c.346_348delinsTGA | p.S116* | Nonsense | 3/7 | - | 1 |
3-43743922-AG-CA | c.349_350delinsCA | p.R117Q | Missense | 3/7 | - | 1 |
3-43743925-C-A | c.352C>A | p.P118T | Missense | 3/7 | - | 2 |
3-43743926-C-A | c.353C>A | p.P118H | Missense | 3/7 | - | 1 |
3-43743929-G-C | c.356G>C | p.R119T | Missense | 3/7 | - | 2 |
3-43743943-G-C | c.370G>C | p.A124P | Missense | 3/7 | - | 1 |
3-43743946-G-A | c.373G>A | p.E125K | Missense | 3/7 | - | 1 |
3-43743944-CAGA-C | c.377_379del | p.E126del | InFrameDeletion | 3/7 | - | 1 |
3-43743952-G-T | c.379G>T | p.V127L | Missense | 3/7 | - | 2 |
3-43743955-G-A | c.382G>A | p.E128K | Missense | 3/7 | - | 2 |
3-43743957-G-A | c.384G>A | p.E128= | Synonymous | 3/7 | - | 2 |
3-43743957-G-C | c.384G>C | p.E128D | Missense | 3/7 | - | 1 |
3-43743957-G-T | c.384G>T | p.E128D | Missense | 3/7 | - | 2 |
3-43743959-A-G | c.386A>G | p.N129S | Missense | 3/7 | - | 1 |
3-43743962-A-C | c.389A>C | p.Q130P | Missense | 3/7 | - | 12 |
3-43743969-G-A | c.396G>A | p.V132= | Synonymous | 3/7 | - | 1 |
3-43743974-C-T | c.401C>T | p.S134F | Missense | 3/7 | - | 2 |
3-43743984-G-C | c.411G>C | p.E137D | Missense | 3/7 | - | 1 |
3-43743984-G-T | c.411G>T | p.E137D | Missense | 3/7 | - | 1 |
3-43744000-G-T | c.427G>T | p.G143* | Nonsense | 3/7 | - | 1 |
3-43744009-A-G | c.436A>G | p.K146E | Missense | 3/7 | - | 1 |
3-43744017-C-G | c.444C>G | p.I148M | Missense | 3/7 | - | 5 |
3-43744021-C-T | c.448C>T | p.L150F | Missense | 3/7 | - | 1 |
3-43744022-T-C | c.449T>C | p.L150P | Missense | 3/7 | - | 1 |
3-43744025-G-C | c.452G>C | p.G151A | Missense | 3/7 | - | 1 |
3-43744025-G-T | c.452G>T | p.G151V | Missense | 3/7 | - | 1 |
3-43744030-A-G | c.457A>G | p.N153D | Missense | 3/7 | - | 1 |
3-43744032-C-A | c.459C>A | p.N153K | Missense | 3/7 | - | 2 |
3-43744032-C-G | c.459C>G | p.N153K | Missense | 3/7 | - | 2 |
3-43744034-T-G | c.461T>G | p.L154R | Missense | 3/7 | - | 2 |
3-43744040-G-C | c.467G>C | p.G156A | Missense | 3/7 | - | 1 |
3-43744042-T-C | c.469T>C | p.F157L | Missense | 3/7 | - | 1 |
3-43744044-C-G | c.471C>G | p.F157L | Missense | 3/7 | - | 1 |
3-43744044-C-A | c.471C>A | p.F157L | Missense | 3/7 | - | 2 |
3-43744044-C-T | c.471C>T | p.F157= | Synonymous | 3/7 | - | 1 |
3-43744045-T-G | c.472T>G | p.L158V | Missense | 3/7 | - | 1 |
3-43744047-G-C | c.474G>C | p.L158F | Missense | 3/7 | - | 2 |
3-43744053-T-A | c.480T>A | p.A160= | Synonymous | 3/7 | - | 1 |
3-43744053-T-C | c.480T>C | p.A160= | Synonymous | 3/7 | - | 2 |
3-43744053-T-G | c.480T>G | p.A160= | Synonymous | 3/7 | - | 1 |
3-43744060-T-G | c.487T>G | p.S163A | Missense | 3/7 | - | 1 |
3-43744062-G-A | c.489G>A | p.S163= | Synonymous | 3/7 | - | 5 |
3-43744062-G-C | c.489G>C | p.S163= | Synonymous | 3/7 | - | 1 |
3-43744062-G-T | c.489G>T | p.S163= | Synonymous | 3/7 | - | 1 |
3-43744078-A-G | c.505A>G | p.R169G | Missense | 3/7 | - | 1 |
3-43744174-A-G | c.506+95A>G | - | IntronicSNV | - | 3/6 | 1 |
3-43747252-A-G | c.506+3173A>G | - | IntronicSNV | - | 3/6 | 1 |
3-43753078-A-G | c.507-123A>G | - | IntronicSNV | - | 3/6 | 1 |
3-43753200-G-A | c.507-1G>A | - | IntronicSNV | - | 3/6 | 1 |
3-43753200-G-T | c.507-1G>T | - | IntronicSNV | - | 3/6 | 1 |
3-43753202-G-T | c.508G>T | p.V170F | Missense | 4/7 | - | 1 |
3-43753206-A-G | c.512A>G | p.N171S | Missense | 4/7 | - | 1 |
3-43753208-C-T | c.514C>T | p.H172Y | Missense | 4/7 | - | 3 |
3-43753220-G-T | c.526G>T | p.V176L | Missense | 4/7 | - | 1 |
3-43753221-T-C | c.527T>C | p.V176A | Missense | 4/7 | - | 1 |
3-43753226-C-T | c.532C>T | p.P178S | Missense | 4/7 | - | 2 |
3-43753230-G-A | c.536G>A | p.W179* | Nonsense | 4/7 | - | 1 |
3-43753230-G-T | c.536G>T | p.W179L | Missense | 4/7 | - | 1 |
3-43753231-G-A | c.537G>A | p.W179* | Nonsense | 4/7 | - | 1 |
3-43753233-G-A | c.539G>A | p.G180D | Missense | 4/7 | - | 1 |
3-43753238-C-T | c.544C>T | p.P182S | Missense | 4/7 | - | 2 |
3-43753244-C-T | c.550C>T | p.R184* | Nonsense | 4/7 | - | 9 |
3-43753245-G-A | c.551G>A | p.R184Q | Missense | 4/7 | - | 4 |
3-43753245-GA-AT | c.551_552delinsAT | p.R184H | Missense | 4/7 | - | 1 |
3-43753250-G-C | c.556G>C | p.D186H | Missense | 4/7 | - | 3 |
3-43753250-G-T | c.556G>T | p.D186Y | Missense | 4/7 | - | 1 |
3-43753252-C-T | c.558C>T | p.D186= | Synonymous | 4/7 | - | 1 |
3-43753253-C-A | c.559C>A | p.L187I | Missense | 4/7 | - | 1 |
3-43753262-C-T | c.568C>T | p.Q190* | Nonsense | 4/7 | - | 7 |
3-43753263-A-C | c.569A>C | p.Q190P | Missense | 4/7 | - | 1 |
3-43753264-A-C | c.570A>C | p.Q190H | Missense | 4/7 | - | 1 |
3-43753268-A-T | c.574A>T | p.R192* | Nonsense | 4/7 | - | 2 |
3-43753278-C-T | c.584C>T | p.P195L | Missense | 4/7 | - | 1 |
3-43753284-G-A | c.590G>A | p.W197* | Nonsense | 4/7 | - | 1 |
3-43753284-G-C | c.590G>C | p.W197S | Missense | 4/7 | - | 3 |
3-43753285-G-A | c.591G>A | p.W197* | Nonsense | 4/7 | - | 2 |
3-43753287-T-TC | c.594dup | p.R199Qfs*11 | Frameshift | 4/7 | - | 5 |
3-43753288-C-T | c.594C>T | p.I198= | Synonymous | 4/7 | - | 1 |
3-43753292-G-A | c.598G>A | p.A200T | Missense | 4/7 | - | 1 |
3-43753295-TT-CA | c.601_602delinsCA | p.L201Q | Missense | 4/7 | - | 1 |
3-43753301-G-A | c.607G>A | p.A203T | Missense | 4/7 | - | 1 |
3-43753302-C-T | c.608C>T | p.A203V | Missense | 4/7 | - | 1 |
3-43753304-G-A | c.610G>A | p.A204T | Missense | 4/7 | - | 1 |
3-43753305-C-T | c.611C>T | p.A204V | Missense | 4/7 | - | 1 |
3-43753309-G-C | c.615G>C | p.L205F | Missense | 4/7 | - | 1 |
3-43753309-G-T | c.615G>T | p.L205F | Missense | 4/7 | - | 3 |
3-43753315-C-A | c.621C>A | p.P207= | Synonymous | 4/7 | - | 1 |
3-43753316-TT-AA | c.622_623inv | p.F208N | Missense | 4/7 | - | 1 |
3-43753319-AAC-TAA | c.625_627delinsTAA | p.N209* | Nonsense | 4/7 | - | 6 |
3-43753322-C-G | c.628C>G | p.P210A | Missense | 4/7 | - | 2 |
3-43753322-C-T | c.628C>T | p.P210S | Missense | 4/7 | - | 1 |
3-43753329-C-T | c.635C>T | p.A212V | Missense | 4/7 | - | 1 |
3-43753332-G-C | c.638G>C | p.G213A | Missense | 4/7 | - | 1 |
3-43753334-C-A | c.640C>A | p.L214I | Missense | 4/7 | - | 1 |
3-43753343-G-A | c.649G>A | p.A217T | Missense | 4/7 | - | 1 |
3-43753351-CT-C | c.660del | p.F220Lfs*3 | Frameshift | 4/7 | - | 1 |
3-43754326-C-T | c.661+971C>T | - | IntronicSNV | - | 4/6 | 1 |
3-43756396-C-T | c.662-43C>T | - | IntronicSNV | - | 4/6 | 1 |
3-43756439-GT-AG | c.662_663delinsAG | p.G221E | Missense | 5/7 | - | 2 |
3-43756440-T-A | c.663T>A | p.G221= | Synonymous | 5/7 | - | 1 |
3-43756445-G-C | c.668G>C | p.S223T | Missense | 5/7 | - | 1 |
3-43756450-G-C | c.673G>C | p.V225L | Missense | 5/7 | - | 1 |
3-43756450-G-T | c.673G>T | p.V225L | Missense | 5/7 | - | 1 |
3-43756455-G-C | c.678G>C | p.Q226H | Missense | 5/7 | - | 1 |
3-43756456-C-A | c.679C>A | p.R227S | Missense | 5/7 | - | 1 |
3-43756456-C-T | c.679C>T | p.R227C | Missense | 5/7 | - | 2 |
3-43756457-G-A | c.680G>A | p.R227H | Missense | 5/7 | - | 8 |
3-43756457-G-C | c.680G>C | p.R227P | Missense | 5/7 | - | 1 |
3-43756460-T-A | c.683T>A | p.L228* | Nonsense | 5/7 | - | 1 |
3-43756463-G-A | c.686G>A | p.R229K | Missense | 5/7 | - | 1 |
3-43756464-G-T | c.687G>T | p.R229S | Missense | 5/7 | - | 1 |
3-43756465-C-A | c.688C>A | p.P230T | Missense | 5/7 | - | 1 |
3-43756473-C-T | c.696C>T | p.F232= | Synonymous | 5/7 | - | 1 |
3-43756477-CGA-AAC | c.700_702delinsAAC | p.R234N | Missense | 5/7 | - | 1 |
3-43756477-C-T | c.700C>T | p.R234* | Nonsense | 5/7 | - | 4 |
3-43756479-A-G | c.702A>G | p.R234= | Synonymous | 5/7 | - | 1 |
3-43756478-G-A | c.701G>A | p.R234Q | Missense | 5/7 | - | 4 |
3-43756478-G-C | c.701G>C | p.R234P | Missense | 5/7 | - | 1 |
3-43756478-G-T | c.701G>T | p.R234L | Missense | 5/7 | - | 1 |
3-43756486-TCT-GAG | c.709_711delinsGAG | p.S237E | Missense | 5/7 | - | 3 |
3-43756486-T-G | c.709T>G | p.S237A | Missense | 5/7 | - | 1 |
3-43756487-C-A | c.710C>A | p.S237Y | Missense | 5/7 | - | 5 |
3-43756492-A-G | c.715A>G | p.M239V | Missense | 5/7 | - | 1 |
3-43756497-C-T | c.720C>T | p.F240= | Synonymous | 5/7 | - | 2 |
3-43756504-G-A | c.727G>A | p.D243N | Missense | 5/7 | - | 6 |
3-43756504-G-T | c.727G>T | p.D243Y | Missense | 5/7 | - | 1 |
3-43756506-T-TA | c.730dup | p.T244Nfs*10 | Frameshift | 5/7 | - | 2 |
3-43756514-C-G | c.737C>G | p.T246R | Missense | 5/7 | - | 1 |
3-43756516-G-A | c.739G>A | p.E247K | Missense | 5/7 | - | 1 |
3-43756528-C-A | c.751C>A | p.H251N | Missense | 5/7 | - | 4 |
3-43756529-A-C | c.752A>C | p.H251P | Missense | 5/7 | - | 1 |
3-43756532-G-A | c.755G>A | p.C252Y | Missense | 5/7 | - | 1 |
3-43756532-G-T | c.755G>T | p.C252F | Missense | 5/7 | - | 1 |
3-43756539-G-A | c.762G>A | p.V254= | Synonymous | 5/7 | - | 1 |
3-43756543-A-G | c.766A>G | p.T256A | Missense | 5/7 | - | 1 |
3-43756547-C-T | c.770C>T | p.P257L | Missense | 5/7 | - | 3 |
3-43756549-A-G | c.772A>G | p.S258G | Missense | 5/7 | - | 1 |
3-43756579-G-C | c.773+29G>C | - | IntronicSNV | - | 5/6 | 1 |
3-43756577-CTGTGTG-C | c.773+57_773+62del | - | IntronicDeletion | - | 5/6 | 1 |
3-43756577-CTGTG-C | c.773+59_773+62del | - | IntronicDeletion | - | 5/6 | 1 |
3-43756609-G-T | c.773+59G>T | - | IntronicSNV | - | 5/6 | 1 |
3-43756611-G-T | c.773+61G>T | - | IntronicSNV | - | 5/6 | 1 |
3-43756612-T-TG | c.773+62_773+63insG | - | IntronicInsertion | - | 5/6 | 2 |
3-43756611-GTT-G | c.773+63_773+64del | - | IntronicDeletion | - | 5/6 | 1 |
3-43756613-T-G | c.773+63T>G | - | IntronicSNV | - | 5/6 | 3 |
3-43759165-G-A | c.776G>A | p.G259D | Missense | 6/7 | - | 2 |
3-43759167-G-A | c.778G>A | p.E260K | Missense | 6/7 | - | 15 |
3-43759167-G-C | c.778G>C | p.E260Q | Missense | 6/7 | - | 1 |
3-43759168-A-T | c.779A>T | p.E260V | Missense | 6/7 | - | 1 |
3-43759182-A-G | c.793A>G | p.N265D | Missense | 6/7 | - | 1 |
3-43759192-T-A | c.803T>A | p.I268N | Missense | 6/7 | - | 2 |
3-43759192-T-C | c.803T>C | p.I268T | Missense | 6/7 | - | 1 |
3-43759195-C-T | c.806C>T | p.P269L | Missense | 6/7 | - | 1 |
3-43759200-G-A | c.811G>A | p.G271R | Missense | 6/7 | - | 4 |
3-43759200-G-C | c.811G>C | p.G271R | Missense | 6/7 | - | 2 |
3-43759206-G-C | c.817G>C | p.A273P | Missense | 6/7 | - | 1 |
3-43759209-A-G | c.820A>G | p.K274E | Missense | 6/7 | - | 1 |
3-43759215-C-T | c.826C>T | p.P276S | Missense | 6/7 | - | 1 |
3-43759216-C-T | c.827C>T | p.P276L | Missense | 6/7 | - | 2 |
3-43759219-T-C | c.830T>C | p.M277T | Missense | 6/7 | - | 1 |
3-43759222-T-C | c.833T>C | p.L278P | Missense | 6/7 | - | 1 |
3-43759224-C-T | c.835C>T | p.Q279* | Nonsense | 6/7 | - | 1 |
3-43759225-CA-C | c.836del | p.Q279Rfs*14 | Frameshift | 6/7 | - | 1 |
3-43759227-C-G | c.838C>G | p.R280G | Missense | 6/7 | - | 1 |
3-43759227-CGA-AAC | c.838_840delinsAAC | p.R280N | Missense | 6/7 | - | 1 |
3-43759227-CG-GC | c.838_839delinsGC | p.R280A | Missense | 6/7 | - | 1 |
3-43759227-C-T | c.838C>T | p.R280* | Nonsense | 6/7 | - | 1 |
3-43759228-G-A | c.839G>A | p.R280Q | Missense | 6/7 | - | 1 |
3-43759243-A-G | c.854A>G | p.H285R | Missense | 6/7 | - | 1 |
3-43759245-C-A | c.856C>A | p.P286T | Missense | 6/7 | - | 1 |
3-43759255-C-T | c.866C>T | p.P289L | Missense | 6/7 | - | 1 |
3-43759275-G-A | c.886G>A | p.A296T | Missense | 6/7 | - | 2 |
3-43759278-C-T | c.889C>T | p.R297* | Nonsense | 6/7 | - | 2 |
3-43759279-G-C | c.890G>C | p.R297P | Missense | 6/7 | - | 4 |
3-43759281-T-G | c.892T>G | p.S298A | Missense | 6/7 | - | 1 |
3-43759284-T-C | c.895T>C | p.C299R | Missense | 6/7 | - | 1 |
3-43759287-AT-TA | c.898_899delinsTA | p.I300* | Nonsense | 6/7 | - | 1 |
3-43759297-AT-GG | c.908_909delinsGG | p.N303R | Missense | 6/7 | - | 1 |
3-43759300-C-T | c.911C>T | p.S304F | Missense | 6/7 | - | 2 |
3-43759303-G-T | c.914G>T | p.G305V | Missense | 6/7 | - | 6 |
3-43759311-A-G | c.922A>G | p.I308V | Missense | 6/7 | - | 2 |
3-43759313-C-A | c.924C>A | p.I308= | Synonymous | 6/7 | - | 2 |
3-43759313-C-G | c.924C>G | p.I308M | Missense | 6/7 | - | 1 |
3-43759313-C-T | c.924C>T | p.I308= | Synonymous | 6/7 | - | 2 |
3-43759319-C-T | c.930C>T | p.S310= | Synonymous | 6/7 | - | 1 |
3-43759321-T-C | c.932T>C | p.L311S | Missense | 6/7 | - | 1 |
3-43759323-C-T | c.934C>T | p.R312* | Nonsense | 6/7 | - | 5 |
3-43759324-G-A | c.935G>A | p.R312Q | Missense | 6/7 | - | 2 |
3-43759330-A-G | c.941A>G | p.H314R | Missense | 6/7 | - | 1 |
3-43759330-A-T | c.941A>T | p.H314L | Missense | 6/7 | - | 1 |
3-43759331-T-A | c.942T>A | p.H314Q | Missense | 6/7 | - | 1 |
3-43759331-T-G | c.942T>G | p.H314Q | Missense | 6/7 | - | 1 |
3-43759333-C-T | c.944C>T | p.S315L | Missense | 6/7 | - | 1 |
3-43759344-A-G | c.955A>G | p.T319A | Missense | 6/7 | - | 1 |
3-43759349-A-G | c.960A>G | p.I320M | Missense | 6/7 | - | 1 |
3-43759354-G-A | c.960+5G>A | - | IntronicSNV | - | 6/6 | 1 |
3-43759940-T-G | c.966T>G | p.I322M | Missense | 7/7 | - | 1 |
3-43759941-C-A | c.967C>A | p.L323I | Missense | 7/7 | - | 1 |
3-43759948-C-G | c.974C>G | p.A325G | Missense | 7/7 | - | 1 |
3-43759951-G-A | c.977G>A | p.G326E | Missense | 7/7 | - | 1 |
3-43759953-CA-GC | c.979_980delinsGC | p.H327A | Missense | 7/7 | - | 2 |
3-43759957-A-G | c.983A>G | p.Y328C | Missense | 7/7 | - | 1 |
3-43759961-A-G | c.987A>G | p.V329= | Synonymous | 7/7 | - | 1 |
3-43759962-TA-GC | c.988_989delinsGC | p.Y330A | Missense | 7/7 | - | 1 |
3-43759962-T-C | c.988T>C | p.Y330H | Missense | 7/7 | - | 1 |
3-43759963-A-T | c.989A>T | p.Y330F | Missense | 7/7 | - | 1 |
3-43759965-G-A | c.991G>A | p.A331T | Missense | 7/7 | - | 1 |
3-43759966-C-G | c.992C>G | p.A331G | Missense | 7/7 | - | 1 |
3-43759967-A-G | c.993A>G | p.A331= | Synonymous | 7/7 | - | 1 |
3-43759969-A-C | c.995A>C | p.D332A | Missense | 7/7 | - | 1 |
3-43759970-T-C | c.996T>C | p.D332= | Synonymous | 7/7 | - | 1 |
3-43759975-CA-AT | c.1001_1002delinsAT | p.P334H | Missense | 7/7 | - | 1 |
3-43759977-G-C | c.1003G>C | p.E335Q | Missense | 7/7 | - | 1 |
3-43759969-ATCAACCAGAAGAAT-A | c.1006_1019del | p.E336Sfs*16 | Frameshift | 7/7 | - | 1 |
3-43759987-A-G | c.1013A>G | p.N338S | Missense | 7/7 | - | 2 |
3-43759994-A-C | c.1020A>C | p.K340N | Missense | 7/7 | - | 3 |
3-43759999-A-T | c.1025A>T | p.K342M | Missense | 7/7 | - | 1 |
3-43760004-A-T | c.1030A>T | p.I344F | Missense | 7/7 | - | 1 |
3-43760009-C-T | c.1035C>T | p.C345= | Synonymous | 7/7 | - | 2 |
3-43760010-G-C | c.1036G>C | p.D346H | Missense | 7/7 | - | 1 |
3-43760016-G-A | c.1042G>A | p.V348M | Missense | 7/7 | - | 1 |
3-43760018-G-A | c.1044G>A | p.V348= | Synonymous | 7/7 | - | 1 |
3-43760018-G-C | c.1044G>C | p.V348= | Synonymous | 7/7 | - | 1 |
3-43760018-G-T | c.1044G>T | p.V348= | Synonymous | 7/7 | - | 1 |
3-43760022-T-G | c.1048T>G | p.*350Gext*3 | Missense | 7/7 | - | 1 |
3-43760023-G-T | c.1049G>T | p.*350Lext*3 | Missense | 7/7 | - | 1 |
3-43760062-T-G | c.*38T>G | - | 3-UTRSNV | 7/7 | - | 3 |
3-43760305-C-A | c.*281C>A | - | 3-UTRSNV | 7/7 | - | 1 |
3-43761134-G-C | c.*1110G>C | - | 3-UTRSNV | 7/7 | - | 1 |
3-43761441-A-G | c.*1417A>G | - | 3-UTRSNV | 7/7 | - | 4 |
3-43761637-T-C | c.*1613T>C | - | 3-UTRSNV | 7/7 | - | 1 |
3-43761780-G-T | c.*1756G>T | - | 3-UTRSNV | 7/7 | - | 1 |
3-43761858-C-G | c.*1834C>G | - | 3-UTRSNV | 7/7 | - | 1 |
3-43761858-C-T | c.*1834C>T | - | 3-UTRSNV | 7/7 | - | 1 |
3-43761887-G-A | c.*1863G>A | - | 3-UTRSNV | 7/7 | - | 1 |
3-43762161-A-G | c.*2137A>G | - | 3-UTRSNV | 7/7 | - | 1 |
3-43762348-G-T | c.*2324G>T | - | 3-UTRSNV | 7/7 | - | 1 |
3-43762959-C-A | c.*2935C>A | - | 3-UTRSNV | 7/7 | - | 1 |
3-43763277-A-T | c.*3253A>T | - | 3-UTRSNV | 7/7 | - | 1 |
3-43763976-T-C | c.*3952T>C | - | 3-UTRSNV | 7/7 | - | 1 |
3-43764171-G-A | c.*4147G>A | - | 3-UTRSNV | 7/7 | - | 1 |
3-43764171-G-T | c.*4147G>T | - | 3-UTRSNV | 7/7 | - | 1 |