Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
12-122326771-C-T | c.9C>T | p.D3= | Synonymous | 1/6 | - | 1 |
12-122326780-G-A | c.18G>A | p.A6= | Synonymous | 1/6 | - | 1 |
12-122326780-G-C | c.18G>C | p.A6= | Synonymous | 1/6 | - | 1 |
12-122326780-G-T | c.18G>T | p.A6= | Synonymous | 1/6 | - | 1 |
12-122326782-G-A | c.20G>A | p.R7K | Missense | 1/6 | - | 6 |
12-122326783-G-C | c.21G>C | p.R7S | Missense | 1/6 | - | 1 |
12-122326783-G-T | c.21G>T | p.R7S | Missense | 1/6 | - | 1 |
12-122326790-GGA-TAT | c.28_30delinsTAT | p.G10Y | Missense | 1/6 | - | 1 |
12-122326791-G-C | c.29G>C | p.G10A | Missense | 1/6 | - | 1 |
12-122326793-G-A | c.31G>A | p.G11S | Missense | 1/6 | - | 5 |
12-122326794-G-C | c.32G>C | p.G11A | Missense | 1/6 | - | 1 |
12-122326796-T-A | c.34T>A | p.S12T | Missense | 1/6 | - | 1 |
12-122326796-T-G | c.34T>G | p.S12A | Missense | 1/6 | - | 1 |
12-122326798-C-A | c.36C>A | p.S12= | Synonymous | 1/6 | - | 1 |
12-122326798-C-G | c.36C>G | p.S12= | Synonymous | 1/6 | - | 1 |
12-122326798-C-T | c.36C>T | p.S12= | Synonymous | 1/6 | - | 1 |
12-122326799-TC-GG | c.37_38delinsGG | p.S13G | Missense | 1/6 | - | 1 |
12-122326799-T-G | c.37T>G | p.S13A | Missense | 1/6 | - | 1 |
12-122326804-G-T | c.42G>T | p.Q14H | Missense | 1/6 | - | 1 |
12-122326805-G-A | c.43G>A | p.A15T | Missense | 1/6 | - | 1 |
12-122326812-T-C | c.50T>C | p.V17A | Missense | 1/6 | - | 45 |
12-122326813-C-A | c.51C>A | p.V17= | Synonymous | 1/6 | - | 2 |
12-122326813-C-G | c.51C>G | p.V17= | Synonymous | 1/6 | - | 2 |
12-122326813-C-T | c.51C>T | p.V17= | Synonymous | 1/6 | - | 2 |
12-122326815-T-C | c.53T>C | p.V18A | Missense | 1/6 | - | 1 |
12-122326818-C-T | c.56C>T | p.T19I | Missense | 1/6 | - | 1 |
12-122326821-T-A | c.59T>A | p.V20D | Missense | 1/6 | - | 1 |
12-122326824-G-C | c.62G>C | p.S21T | Missense | 1/6 | - | 1 |
12-122326826-G-A | c.64G>A | p.D22N | Missense | 1/6 | - | 1 |
12-122326826-G-T | c.64G>T | p.D22Y | Missense | 1/6 | - | 2 |
12-122326828-C-A | c.66C>A | p.D22E | Missense | 1/6 | - | 1 |
12-122326828-C-G | c.66C>G | p.D22E | Missense | 1/6 | - | 1 |
12-122326835-G-C | c.73G>C | p.E25Q | Missense | 1/6 | - | 2 |
12-122326865-GCG-TGT | c.103_105delinsTGT | p.A35C | Missense | 1/6 | - | 1 |
12-122326866-C-A | c.104C>A | p.A35E | Missense | 1/6 | - | 1 |
12-122326866-CG-AC | c.104_105delinsAC | p.A35D | Missense | 1/6 | - | 1 |
12-122326899-G-A | c.137G>A | p.S46N | Missense | 1/6 | - | 1 |
12-122326898-A-C | c.136A>C | p.S46R | Missense | 1/6 | - | 1 |
12-122326900-C-A | c.138C>A | p.S46R | Missense | 1/6 | - | 1 |
12-122326900-C-G | c.138C>G | p.S46R | Missense | 1/6 | - | 1 |
12-122326902-T-C | c.138+2T>C | - | IntronicSNV | - | 1/5 | 1 |
12-122328102-C-T | c.138+1202C>T | - | IntronicSNV | - | 1/5 | 1 |
12-122329478-C-G | c.138+2578C>G | - | IntronicSNV | - | 1/5 | 2 |
12-122329478-C-T | c.138+2578C>T | - | IntronicSNV | - | 1/5 | 2 |
12-122331289-G-C | c.139-1356G>C | - | IntronicSNV | - | 1/5 | 1 |
12-122332649-A-G | c.143A>G | p.K48R | Missense | 2/6 | - | 2 |
12-122332651-G-A | c.145G>A | p.G49S | Missense | 2/6 | - | 1 |
12-122332652-G-C | c.146G>C | p.G49A | Missense | 2/6 | - | 1 |
12-122332656-T-G | c.150T>G | p.I50M | Missense | 2/6 | - | 1 |
12-122332657-G-A | c.151G>A | p.G51R | Missense | 2/6 | - | 1 |
12-122332657-G-C | c.151G>C | p.G51R | Missense | 2/6 | - | 1 |
12-122332657-GGG-AGC | c.151_153delinsAGC | p.G51S | Missense | 2/6 | - | 1 |
12-122332657-G-T | c.151G>T | p.G51W | Missense | 2/6 | - | 1 |
12-122332661-T-C | c.155T>C | p.M52T | Missense | 2/6 | - | 1 |
12-122332664-A-C | c.158A>C | p.N53T | Missense | 2/6 | - | 1 |
12-122332666-G-A | c.160G>A | p.E54K | Missense | 2/6 | - | 3 |
12-122332670-C-T | c.164C>T | p.P55L | Missense | 2/6 | - | 2 |
12-122332671-G-A | c.165G>A | p.P55= | Synonymous | 2/6 | - | 2 |
12-122332671-G-C | c.165G>C | p.P55= | Synonymous | 2/6 | - | 1 |
12-122332671-G-T | c.165G>T | p.P55= | Synonymous | 2/6 | - | 1 |
12-122332675-G-A | c.169G>A | p.V57M | Missense | 2/6 | - | 2 |
12-122332676-T-A | c.170T>A | p.V57E | Missense | 2/6 | - | 1 |
12-122332678-G-A | c.172G>A | p.D58N | Missense | 2/6 | - | 1 |
12-122332686-G-T | c.180G>T | p.E60D | Missense | 2/6 | - | 1 |
12-122332687-GGC-TGG | c.181_183delinsTGG | p.G61W | Missense | 2/6 | - | 1 |
12-122332688-G-A | c.182G>A | p.G61D | Missense | 2/6 | - | 1 |
12-122332689-C-A | c.183C>A | p.G61= | Synonymous | 2/6 | - | 1 |
12-122332689-C-G | c.183C>G | p.G61= | Synonymous | 2/6 | - | 1 |
12-122332689-C-T | c.183C>T | p.G61= | Synonymous | 2/6 | - | 1 |
12-122332693-C-T | c.187C>T | p.P63S | Missense | 2/6 | - | 1 |
12-122332695-C-A | c.189C>A | p.P63= | Synonymous | 2/6 | - | 1 |
12-122332697-G-A | c.191G>A | p.R64Q | Missense | 2/6 | - | 2 |
12-122332699-T-A | c.193T>A | p.S65T | Missense | 2/6 | - | 1 |
12-122332714-T-A | c.208T>A | p.Y70N | Missense | 2/6 | - | 1 |
12-122332718-A-T | c.212A>T | p.Q71L | Missense | 2/6 | - | 3 |
12-122332722-C-T | c.216C>T | p.V72= | Synonymous | 2/6 | - | 1 |
12-122332725-C-T | c.219C>T | p.R73= | Synonymous | 2/6 | - | 1 |
12-122332727-C-T | c.221C>T | p.T74I | Missense | 2/6 | - | 6 |
12-122332728-C-A | c.222C>A | p.T74= | Synonymous | 2/6 | - | 1 |
12-122332728-C-G | c.222C>G | p.T74= | Synonymous | 2/6 | - | 1 |
12-122332728-C-T | c.222C>T | p.T74= | Synonymous | 2/6 | - | 1 |
12-122332729-G-A | c.223G>A | p.A75T | Missense | 2/6 | - | 1 |
12-122332733-G-A | c.227G>A | p.R76K | Missense | 2/6 | - | 1 |
12-122332739-A-G | c.233A>G | p.N78S | Missense | 2/6 | - | 2 |
12-122332796-T-C | c.241+49T>C | - | IntronicSNV | - | 2/5 | 1 |
12-122332819-A-G | c.241+72A>G | - | IntronicSNV | - | 2/5 | 1 |
12-122337551-G-T | c.253G>T | p.D85Y | Missense | 3/6 | - | 2 |
12-122337555-A-G | c.257A>G | p.H86R | Missense | 3/6 | - | 1 |
12-122337558-A-G | c.260A>G | p.K87R | Missense | 3/6 | - | 2 |
12-122337561-C-T | c.263C>T | p.A88V | Missense | 3/6 | - | 1 |
12-122337563-G-C | c.265G>C | p.V89L | Missense | 3/6 | - | 1 |
12-122337563-G-T | c.265G>T | p.V89L | Missense | 3/6 | - | 1 |
12-122337566-A-AG | c.268_269insG | p.M90Sfs*25 | Frameshift | 3/6 | - | 1 |
12-122337572-C-T | c.274C>T | p.Q92* | Nonsense | 3/6 | - | 1 |
12-122337573-A-G | c.275A>G | p.Q92R | Missense | 3/6 | - | 1 |
12-122337575-G-A | c.277G>A | p.V93M | Missense | 3/6 | - | 2 |
12-122337585-C-T | c.287C>T | p.A96V | Missense | 3/6 | - | 1 |
12-122337597-T-A | c.299T>A | p.L100Q | Missense | 3/6 | - | 1 |
12-122337605-C-T | c.307C>T | p.R103C | Missense | 3/6 | - | 1 |
12-122337608-G-A | c.310G>A | p.D104N | Missense | 3/6 | - | 2 |
12-122337609-A-C | c.311A>C | p.D104A | Missense | 3/6 | - | 1 |
12-122337613-G-A | c.315G>A | p.K105= | Synonymous | 3/6 | - | 1 |
12-122337623-G-A | c.325G>A | p.A109T | Missense | 3/6 | - | 1 |
12-122337626-C-A | c.328C>A | p.R110= | Synonymous | 3/6 | - | 1 |
12-122337626-C-G | c.328C>G | p.R110G | Missense | 3/6 | - | 1 |
12-122337626-C-T | c.328C>T | p.R110W | Missense | 3/6 | - | 4 |
12-122337631-ACAT-A | c.333_335del | p.D111_M112delinsE | MultiAAMissense | 3/6 | - | 1 |
12-122337631-C-A | c.333C>A | p.D111E | Missense | 3/6 | - | 1 |
12-122337631-C-G | c.333C>G | p.D111E | Missense | 3/6 | - | 1 |
12-122337633-T-C | c.335T>C | p.M112T | Missense | 3/6 | - | 1 |
12-122337634-G-A | c.336G>A | p.M112I | Missense | 3/6 | - | 1 |
12-122337634-G-C | c.336G>C | p.M112I | Missense | 3/6 | - | 1 |
12-122337634-G-T | c.336G>T | p.M112I | Missense | 3/6 | - | 1 |
12-122337642-C-G | c.344C>G | p.A115G | Missense | 3/6 | - | 1 |
12-122337654-CC-AG | c.356_357delinsAG | p.A119E | Missense | 3/6 | - | 1 |
12-122337655-C-A | c.357C>A | p.A119= | Synonymous | 3/6 | - | 2 |
12-122337659-A-T | c.361A>T | p.S121C | Missense | 3/6 | - | 2 |
12-122337662-C-T | c.364C>T | p.R122C | Missense | 3/6 | - | 1 |
12-122337663-G-A | c.365G>A | p.R122H | Missense | 3/6 | - | 4 |
12-122337667-A-G | c.369A>G | p.K123= | Synonymous | 3/6 | - | 1 |
12-122337668-CT-GG | c.370_371delinsGG | p.L124G | Missense | 3/6 | - | 1 |
12-122337669-T-C | c.371T>C | p.L124P | Missense | 3/6 | - | 1 |
12-122337671-G-T | c.373G>T | p.G125C | Missense | 3/6 | - | 1 |
12-122337672-G-T | c.374G>T | p.G125V | Missense | 3/6 | - | 1 |
12-122337674-CA-GG | c.376_377delinsGG | p.Q126G | Missense | 3/6 | - | 1 |
12-122337674-C-T | c.376C>T | p.Q126* | Nonsense | 3/6 | - | 1 |
12-122337681-A-G | c.383A>G | p.E128G | Missense | 3/6 | - | 1 |
12-122337682-G-C | c.384G>C | p.E128D | Missense | 3/6 | - | 1 |
12-122337682-G-T | c.384G>T | p.E128D | Missense | 3/6 | - | 1 |
12-122337693-C-T | c.395C>T | p.P132L | Missense | 3/6 | - | 1 |
12-122337698-CGG-ATC | c.400_402delinsATC | p.R134I | Missense | 3/6 | - | 1 |
12-122337698-C-T | c.400C>T | p.R134W | Missense | 3/6 | - | 7 |
12-122337706-C-T | c.408C>T | p.F136= | Synonymous | 3/6 | - | 1 |
12-122337707-G-A | c.409G>A | p.A137T | Missense | 3/6 | - | 5 |
12-122337708-C-A | c.410C>A | p.A137D | Missense | 3/6 | - | 1 |
12-122337718-C-A | c.420C>A | p.N140K | Missense | 3/6 | - | 1 |
12-122337718-C-G | c.420C>G | p.N140K | Missense | 3/6 | - | 3 |
12-122337725-A-G | c.427A>G | p.S143G | Missense | 3/6 | - | 2 |
12-122337726-G-A | c.428G>A | p.S143N | Missense | 3/6 | - | 2 |
12-122337729-C-A | c.431C>A | p.P144H | Missense | 3/6 | - | 1 |
12-122337729-C-T | c.431C>T | p.P144L | Missense | 3/6 | - | 1 |
12-122337731-G-A | c.433G>A | p.G145S | Missense | 3/6 | - | 2 |
12-122337736-C-T | c.438C>T | p.S146= | Synonymous | 3/6 | - | 1 |
12-122337737-C-T | c.439C>T | p.P147S | Missense | 3/6 | - | 1 |
12-122337741-C-G | c.443C>G | p.A148G | Missense | 3/6 | - | 1 |
12-122337748-C-A | c.450C>A | p.I150= | Synonymous | 3/6 | - | 1 |
12-122337748-C-T | c.450C>T | p.I150= | Synonymous | 3/6 | - | 1 |
12-122337749-G-A | c.451G>A | p.A151T | Missense | 3/6 | - | 5 |
12-122337750-C-T | c.452C>T | p.A151V | Missense | 3/6 | - | 3 |
12-122337937-A-G | c.453+186A>G | - | IntronicSNV | - | 3/5 | 1 |
12-122338566-C-T | c.453+815C>T | - | IntronicSNV | - | 3/5 | 1 |
12-122340452-G-A | c.454-460G>A | - | IntronicSNV | - | 3/5 | 5 |
12-122340475-C-G | c.454-437C>G | - | IntronicSNV | - | 3/5 | 5 |
12-122340475-C-T | c.454-437C>T | - | IntronicSNV | - | 3/5 | 5 |
12-122340915-CT-GG | c.457_458delinsGG | p.L153G | Missense | 4/6 | - | 1 |
12-122340915-C-T | c.457C>T | p.L153= | Synonymous | 4/6 | - | 2 |
12-122340917-G-A | c.459G>A | p.L153= | Synonymous | 4/6 | - | 1 |
12-122340917-G-C | c.459G>C | p.L153= | Synonymous | 4/6 | - | 1 |
12-122340917-G-T | c.459G>T | p.L153= | Synonymous | 4/6 | - | 1 |
12-122340918-C-T | c.460C>T | p.Q154* | Nonsense | 4/6 | - | 1 |
12-122340926-T-C | c.468T>C | p.D156= | Synonymous | 4/6 | - | 1 |
12-122340929-T-A | c.471T>A | p.D157E | Missense | 4/6 | - | 1 |
12-122340929-T-G | c.471T>G | p.D157E | Missense | 4/6 | - | 1 |
12-122340930-G-A | c.472G>A | p.E158K | Missense | 4/6 | - | 2 |
12-122340934-T-C | c.476T>C | p.I159T | Missense | 4/6 | - | 1 |
12-122340941-G-A | c.483G>A | p.E161= | Synonymous | 4/6 | - | 1 |
12-122340941-G-C | c.483G>C | p.E161D | Missense | 4/6 | - | 1 |
12-122340941-G-T | c.483G>T | p.E161D | Missense | 4/6 | - | 1 |
12-122340942-TT-GG | c.484_485delinsGG | p.F162G | Missense | 4/6 | - | 1 |
12-122340948-T-A | c.490T>A | p.S164T | Missense | 4/6 | - | 2 |
12-122340949-C-T | c.491C>T | p.S164F | Missense | 4/6 | - | 1 |
12-122340955-A-G | c.497A>G | p.N166S | Missense | 4/6 | - | 6 |
12-122340959-C-T | c.501C>T | p.T167= | Synonymous | 4/6 | - | 1 |
12-122340962-G-C | c.504G>C | p.Q168H | Missense | 4/6 | - | 2 |
12-122340962-G-T | c.504G>T | p.Q168H | Missense | 4/6 | - | 2 |
12-122340969-C-A | c.511C>A | p.Q171K | Missense | 4/6 | - | 1 |
12-122340975-CT-GG | c.517_518delinsGG | p.L173G | Missense | 4/6 | - | 1 |
12-122340977-G-A | c.519G>A | p.L173= | Synonymous | 4/6 | - | 1 |
12-122340977-G-T | c.519G>T | p.L173= | Synonymous | 4/6 | - | 1 |
12-122340979-A-G | c.521A>G | p.H174R | Missense | 4/6 | - | 1 |
12-122340999-CA-GG | c.541_542delinsGG | p.Q181G | Missense | 4/6 | - | 1 |
12-122341010-G-C | c.552G>C | p.E184D | Missense | 4/6 | - | 1 |
12-122341010-G-T | c.552G>T | p.E184D | Missense | 4/6 | - | 1 |
12-122341011-G-T | c.553G>T | p.G185W | Missense | 4/6 | - | 1 |
12-122341097-G-A | c.555+84G>A | - | IntronicSNV | - | 4/5 | 2 |
12-122341097-G-T | c.555+84G>T | - | IntronicSNV | - | 4/5 | 1 |
12-122342877-G-T | c.555+1864G>T | - | IntronicSNV | - | 4/5 | 2 |
12-122342964-T-C | c.555+1951T>C | - | IntronicSNV | - | 4/5 | 4 |
12-122347298-C-T | c.555+6285C>T | - | IntronicSNV | - | 4/5 | 1 |
12-122347600-G-A | c.556-6162G>A | - | IntronicSNV | - | 4/5 | 1 |
12-122348746-A-G | c.556-5016A>G | - | IntronicSNV | - | 4/5 | 5 |
12-122348938-T-TTTTTTG | c.556-4820_556-4819insTGTTTT | - | IntronicInsertion | - | 4/5 | 1 |
12-122348989-A-C | c.556-4773A>C | - | IntronicSNV | - | 4/5 | 1 |
12-122348989-A-T | c.556-4773A>T | - | IntronicSNV | - | 4/5 | 1 |
12-122349058-A-G | c.556-4704A>G | - | IntronicSNV | - | 4/5 | 1 |
12-122353762-A-G | c.556A>G | p.K186E | Missense | 5/6 | - | 1 |
12-122353766-CCCCTGAA-C | c.560_566del | p.P187Lfs*2 | Frameshift | 5/6 | - | 1 |
12-122353766-C-T | c.560C>T | p.P187L | Missense | 5/6 | - | 1 |
12-122353768-C-T | c.562C>T | p.L188= | Synonymous | 5/6 | - | 1 |
12-122353770-G-A | c.564G>A | p.L188= | Synonymous | 5/6 | - | 1 |
12-122353770-G-C | c.564G>C | p.L188= | Synonymous | 5/6 | - | 1 |
12-122353770-G-T | c.564G>T | p.L188= | Synonymous | 5/6 | - | 1 |
12-122353780-G-C | c.574G>C | p.V192L | Missense | 5/6 | - | 1 |
12-122353780-G-T | c.574G>T | p.V192L | Missense | 5/6 | - | 1 |
12-122353785-C-T | c.579C>T | p.I193= | Synonymous | 5/6 | - | 3 |
12-122353786-C-T | c.580C>T | p.R194C | Missense | 5/6 | - | 2 |
12-122353787-G-T | c.581G>T | p.R194L | Missense | 5/6 | - | 2 |
12-122353790-G-A | c.584G>A | p.R195K | Missense | 5/6 | - | 1 |
12-122353791-G-C | c.585G>C | p.R195S | Missense | 5/6 | - | 1 |
12-122353791-G-T | c.585G>T | p.R195S | Missense | 5/6 | - | 1 |
12-122353792-GG-AC | c.586_587delinsAC | p.G196T | Missense | 5/6 | - | 1 |
12-122353789-A-AG | c.589dup | p.E197Gfs*6 | Frameshift | 5/6 | - | 2 |
12-122353789-AG-A | c.589del | p.E197Kfs*47 | Frameshift | 5/6 | - | 1 |
12-122353796-A-C | c.590A>C | p.E197A | Missense | 5/6 | - | 17 |
12-122353796-A-G | c.590A>G | p.E197G | Missense | 5/6 | - | 45 |
12-122353797-A-G | c.591A>G | p.E197= | Synonymous | 5/6 | - | 4 |
12-122353804-C-T | c.598C>T | p.Q200* | Nonsense | 5/6 | - | 2 |
12-122353812-A-C | c.606A>C | p.R202S | Missense | 5/6 | - | 2 |
12-122353812-A-T | c.606A>T | p.R202S | Missense | 5/6 | - | 2 |
12-122353813-C-T | c.607C>T | p.L203F | Missense | 5/6 | - | 2 |
12-122353819-C-A | c.613C>A | p.P205T | Missense | 5/6 | - | 1 |
12-122353820-C-A | c.614C>A | p.P205Q | Missense | 5/6 | - | 1 |
12-122353820-C-T | c.614C>T | p.P205L | Missense | 5/6 | - | 1 |
12-122353825-C-A | c.619C>A | p.R207S | Missense | 5/6 | - | 1 |
12-122353825-C-G | c.619C>G | p.R207G | Missense | 5/6 | - | 1 |
12-122353825-C-T | c.619C>T | p.R207C | Missense | 5/6 | - | 1 |
12-122353826-G-A | c.620G>A | p.R207H | Missense | 5/6 | - | 1 |
12-122353832-C-G | c.626C>G | p.A209G | Missense | 5/6 | - | 1 |
12-122353833-A-C | c.627A>C | p.A209= | Synonymous | 5/6 | - | 1 |
12-122353833-A-G | c.627A>G | p.A209= | Synonymous | 5/6 | - | 1 |
12-122353833-A-T | c.627A>T | p.A209= | Synonymous | 5/6 | - | 1 |
12-122353835-G-T | c.629G>T | p.G210V | Missense | 5/6 | - | 1 |
12-122353841-G-T | c.635G>T | p.G212V | Missense | 5/6 | - | 2 |
12-122353843-C-T | c.637C>T | p.L213= | Synonymous | 5/6 | - | 2 |
12-122353845-G-A | c.639G>A | p.L213= | Synonymous | 5/6 | - | 3 |
12-122353845-G-C | c.639G>C | p.L213= | Synonymous | 5/6 | - | 2 |
12-122353845-G-T | c.639G>T | p.L213= | Synonymous | 5/6 | - | 2 |
12-122353846-C-G | c.640C>G | p.L214V | Missense | 5/6 | - | 1 |
12-122353849-G-T | c.643G>T | p.G215C | Missense | 5/6 | - | 1 |
12-122353852-T-G | c.644+2T>G | - | IntronicSNV | - | 5/5 | 1 |
12-122354192-GCAA-G | c.650_652del | p.N217del | InFrameDeletion | 6/6 | - | 1 |
12-122354204-C-A | c.659C>A | p.P220H | Missense | 6/6 | - | 1 |
12-122354206-C-A | c.661C>A | p.L221M | Missense | 6/6 | - | 1 |
12-122354206-C-T | c.661C>T | p.L221= | Synonymous | 6/6 | - | 1 |
12-122354208-G-A | c.663G>A | p.L221= | Synonymous | 6/6 | - | 1 |
12-122354208-G-C | c.663G>C | p.L221= | Synonymous | 6/6 | - | 1 |
12-122354208-G-T | c.663G>T | p.L221= | Synonymous | 6/6 | - | 1 |
12-122354209-C-A | c.664C>A | p.Q222K | Missense | 6/6 | - | 1 |
12-122354209-GCA-G | c.664_665del | p.Q222Kfs*9 | Frameshift | 6/6 | - | 1 |
12-122354404-C-T | c.*187C>T | - | 3-UTRSNV | 6/6 | - | 1 |
12-122354477-G-A | c.*260G>A | - | 3-UTRSNV | 6/6 | - | 1 |
12-122354916-T-C | c.*699T>C | - | 3-UTRSNV | 6/6 | - | 1 |
12-122355152-T-TG | c.*935_*936insG | - | 3-UTRInsertion | 6/6 | - | 2 |
12-122355152-T-TA | c.*938dup | - | 3-UTRInsertion | 6/6 | - | 1 |
12-122355716-C-T | c.*1499C>T | - | 3-UTRSNV | 6/6 | - | 3 |