Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
1-114356663-A-G | c.*864T>C | - | 3-UTRSNV | 21/21 | - | 16 |
1-114357211-G-A | c.*316C>T | - | 3-UTRSNV | 21/21 | - | 3 |
1-114357750-G-A | c.2360-159C>T | - | IntronicSNV | - | 20/20 | 14 |
1-114362437-A-G | c.2282-161T>C | - | IntronicSNV | - | 19/20 | 1 |
1-114363459-G-A | c.2282-1183C>T | - | IntronicSNV | - | 19/20 | 7 |
1-114364104-T-A | c.2282-1828A>T | - | IntronicSNV | - | 19/20 | 3 |
1-114364104-T-C | c.2282-1828A>G | - | IntronicSNV | - | 19/20 | 3 |
1-114364476-G-A | c.2282-2200C>T | - | IntronicSNV | - | 19/20 | 11 |
1-114365752-C-T | c.2281+2012G>A | - | IntronicSNV | - | 19/20 | 1 |
1-114366434-T-C | c.2281+1330A>G | - | IntronicSNV | - | 19/20 | 9 |
1-114367116-C-T | c.2281+648G>A | - | IntronicSNV | - | 19/20 | 1 |
1-114367513-T-C | c.2281+251A>G | - | IntronicSNV | - | 19/20 | 1 |
1-114367793-C-T | c.2252G>A | p.Ser751Asn | Missense | 19/21 | - | 1 |
1-114369259-T-C | c.2251-1465A>G | - | IntronicSNV | - | 18/20 | 1 |
1-114369734-A-G | c.2251-1940T>C | - | IntronicSNV | - | 18/20 | 6 |
1-114372214-C-G | c.2250G>C | p.Lys750Asn | Missense | 18/21 | - | 2 |
1-114372222-T-C | c.2242A>G | p.Arg748Gly | Missense | 18/21 | - | 1 |
1-114372283-G-C | c.2181C>G | p.Asp727Glu | Missense | 18/21 | - | 5 |
1-114372283-G-T | c.2181C>A | p.Asp727Glu | Missense | 18/21 | - | 5 |
1-114372524-A-G | c.2134+47T>C | - | IntronicSNV | - | 17/20 | 2 |
1-114372528-T-C | c.2134+43A>G | - | IntronicSNV | - | 17/20 | 5 |
1-114372528-T-G | c.2134+43A>C | - | IntronicSNV | - | 17/20 | 5 |
1-114372622-G-C | c.2083C>G | p.Pro695Ala | Missense | 17/21 | - | 1 |
1-114373503-A-C | c.2054-852T>G | - | IntronicSNV | - | 16/20 | 16 |
1-114373503-A-G | c.2054-852T>C | - | IntronicSNV | - | 16/20 | 16 |
1-114374435-C-T | c.2053+1298G>A | - | IntronicSNV | - | 16/20 | 9 |
1-114377148-T-A | c.1895-87A>T | - | IntronicSNV | - | 14/20 | 6 |
1-114377148-T-C | c.1895-87A>G | - | IntronicSNV | - | 14/20 | 6 |
1-114377535-C-T | c.1891G>A | p.Ala631Thr | Missense | 14/21 | - | 1 |
1-114377543-A-G | c.1883T>C | p.Val628Ala | Missense | 14/21 | - | 1 |
1-114377546-A-G | c.1880T>C | p.Val627Ala | Missense | 14/21 | - | 1 |
1-114377547-C-T | c.1879G>A | p.Val627Met | Missense | 14/21 | - | 1 |
1-114377549-A-G | c.1877T>C | p.Ile626Thr | Missense | 14/21 | - | 1 |
1-114377549-AT-GC | c.1876_1877delinsGC | p.Ile626Ala | Missense | 14/21 | - | 1 |
1-114377561-G-C | c.1865C>G | p.Pro622Arg | Missense | 14/21 | - | 2 |
1-114377567-C-T | c.1859G>A | p.Arg620Gln | Nonsense | 14/21 | - | 1 |
1-114377568-A-G | c.1858T>C | p.Arg620Arg | Missense | 14/21 | - | 567 |
1-114377573-G-A | c.1853C>T | p.Pro618Leu | Missense | 14/21 | - | 1 |
1-114377574-G-C | c.1852C>G | p.Pro618Ala | Missense | 14/21 | - | 2 |
1-114377583-G-C | c.1843C>G | p.Pro615Ala | Missense | 14/21 | - | 1 |
1-114377599-T-C | c.1827A>G | p.Ile609Met | Missense | 14/21 | - | 1 |
1-114377602-C-G | c.1824G>C | p.Arg608Ser | Missense | 14/21 | - | 1 |
1-114377602-C-T | c.1824G>A | p.Arg608Arg | Synonymous | 14/21 | - | 1 |
1-114377610-C-A | c.1816G>T | p.Ala606Ser | Missense | 14/21 | - | 1 |
1-114377611-A-G | c.1815T>C | p.Thr605Thr | Synonymous | 14/21 | - | 1 |
1-114377769-G-A | c.1811-154C>T | - | IntronicSNV | - | 13/20 | 1 |
1-114380415-T-A | c.1607A>T | p.Tyr536Phe | Missense | 13/21 | - | 3 |
1-114380445-T-A | c.1577A>T | p.Tyr526Phe | Missense | 13/21 | - | 1 |
1-114380460-CT-TT | c.1562delinsA | p.Ser521Asn | Missense | 13/21 | - | 1 |
1-114380656-G-C | c.1366C>G | p.Gln456Glu | Missense | 13/21 | - | 1 |
1-114380669-AA-A | c.1356del | p.Phe452Leufs*3 | Frameshift | 13/21 | - | 1 |
1-114380772-A-C | c.1250T>G | p.Leu417Trp | Missense | 13/21 | - | 1 |
1-114380826-G-A | c.1196C>T | p.Thr399Ile | Missense | 13/21 | - | 1 |
1-114380886-T-C | c.1136A>G | p.Asp379Gly | Missense | 13/21 | - | 1 |
1-114380914-G-T | c.1108C>A | p.His370Asn | Missense | 13/21 | - | 3 |
1-114380982-TT-T | c.1042del | p.Ile348Serfs*14 | Frameshift | 13/21 | - | 1 |
1-114381205-GT-TG | c.952_953delinsCA | p.Thr318His | Missense | 12/21 | - | 1 |
1-114381214-T-C | c.944A>G | p.Lys315Arg | Missense | 12/21 | - | 1 |
1-114381229-TG-GC | c.928_929delinsGC | p.His310Ala | Missense | 12/21 | - | 1 |
1-114381457-T-C | c.916-215A>G | - | IntronicSNV | - | 11/20 | 9 |
1-114381633-T-C | c.916-391A>G | - | IntronicSNV | - | 11/20 | 8 |
1-114382025-G-A | c.916-783C>T | - | IntronicSNV | - | 11/20 | 3 |
1-114382025-G-T | c.916-783C>A | - | IntronicSNV | - | 11/20 | 3 |
1-114383097-A-C | c.916-1855T>G | - | IntronicSNV | - | 11/20 | 4 |
1-114383097-A-G | c.916-1855T>C | - | IntronicSNV | - | 11/20 | 4 |
1-114386083-A-G | c.916-4841T>C | - | IntronicSNV | - | 11/20 | 1 |
1-114388804-T-C | c.915+2358A>G | - | IntronicSNV | - | 11/20 | 2 |
1-114389748-C-T | c.915+1414G>A | - | IntronicSNV | - | 11/20 | 10 |
1-114391125-A-C | c.915+37T>G | - | IntronicSNV | - | 11/20 | 2 |
1-114391125-A-G | c.915+37T>C | - | IntronicSNV | - | 11/20 | 2 |
1-114391181-T-C | c.896A>G | p.Asp299Gly | Missense | 11/21 | - | 1 |
1-114391196-CATCT-C | c.878_881del | p.Gln293Argfs*45 | Frameshift | 11/21 | - | 1 |
1-114391201-TCT-TGG | c.874_875delinsCC | p.Arg292Pro | Missense | 11/21 | - | 1 |
1-114391241-TA-GC | c.835_836delinsGC | p.Tyr279Ala | Missense | 11/21 | - | 1 |
1-114391248-C-A | c.829G>T | p.Glu277* | Nonsense | 11/21 | - | 1 |
1-114393153-A-C | c.828+1496T>G | - | IntronicSNV | - | 10/20 | 4 |
1-114393748-A-G | c.828+901T>C | - | IntronicSNV | - | 10/20 | 9 |
1-114394463-C-T | c.828+186G>A | - | IntronicSNV | - | 10/20 | 12 |
1-114394681-G-A | c.796C>T | p.Arg266Trp | Missense | 10/21 | - | 2 |
1-114394681-G-T | c.796C>A | p.Arg266Arg | Synonymous | 10/21 | - | 1 |
1-114394689-C-T | c.788G>A | p.Arg263Gln | Missense | 10/21 | - | 50 |
1-114396280-T-C | c.750+813A>G | - | IntronicSNV | - | 9/20 | 2 |
1-114396816-C-A | c.750+277G>T | - | IntronicSNV | - | 9/20 | 2 |
1-114396816-C-T | c.750+277G>A | - | IntronicSNV | - | 9/20 | 2 |
1-114396955-G-A | c.750+138C>T | - | IntronicSNV | - | 9/20 | 4 |
1-114397102-T-A | c.741A>T | p.Leu247Leu | Synonymous | 9/21 | - | 1 |
1-114397102-T-C | c.741A>G | p.Leu247Leu | Synonymous | 9/21 | - | 1 |
1-114397102-T-G | c.741A>C | p.Leu247Leu | Synonymous | 9/21 | - | 1 |
1-114397104-G-A | c.739C>T | p.Leu247Leu | Synonymous | 9/21 | - | 1 |
1-114397529-C-G | c.683G>C | p.Ser228Thr | Missense | 8/21 | - | 1 |
1-114397532-C-G | c.680G>C | p.Cys227Ser | Missense | 8/21 | - | 8 |
1-114397533-A-T | c.679T>A | p.Cys227Ser | Missense | 8/21 | - | 8 |
1-114397571-CA-GT | c.640_641delinsAC | p.Cys214Thr | Missense | 8/21 | - | 1 |
1-114397573-ACG-TGG | c.638_639delinsCA | p.Arg213Pro | Missense | 8/21 | - | 1 |
1-114397610-G-A | c.602C>T | p.Ser201Phe | Missense | 8/21 | - | 1 |
1-114397628-T-G | c.584A>C | p.Asp195Ala | Missense | 8/21 | - | 5 |
1-114397665-G-A | c.547C>T | p.Arg183* | Nonsense | 8/21 | - | 1 |
1-114397788-C-T | c.541-117G>A | - | IntronicSNV | - | 7/20 | 4 |
1-114397799-C-T | c.541-128G>A | - | IntronicSNV | - | 7/20 | 3 |
1-114399219-G-A | c.431C>T | p.Ala144Val | Missense | 6/21 | - | 1 |
1-114399228-C-T | c.422G>A | p.Arg141His | Missense | 6/21 | - | 1 |
1-114399237-TT-GC | c.412_413delinsGC | p.Lys138Ala | Missense | 6/21 | - | 1 |
1-114399433-C-T | c.409-192G>A | - | IntronicSNV | - | 5/20 | 3 |
1-114400382-C-G | c.386G>C | p.Cys129Ser | Missense | 5/21 | - | 4 |
1-114400383-A-T | c.385T>A | p.Cys129Ser | Missense | 5/21 | - | 4 |
1-114400804-C-T | c.369+296G>A | - | IntronicSNV | - | 4/20 | 2 |
1-114400904-C-G | c.369+196G>C | - | IntronicSNV | - | 4/20 | 1 |
1-114400904-C-T | c.369+196G>A | - | IntronicSNV | - | 4/20 | 1 |
1-114401231-A-G | c.274-36T>C | - | IntronicSNV | - | 3/20 | 9 |
1-114401637-GC-TG | c.259_260delinsCA | p.Ala87His | Missense | 3/21 | - | 1 |
1-114401692-T-C | c.205A>G | p.Ser69Gly | Missense | 3/21 | - | 1 |
1-114401904-T-G | c.196+70A>C | - | IntronicSNV | - | 2/20 | 3 |
1-114401998-T-C | c.172A>G | p.Asn58Asp | Missense | 2/21 | - | 1 |
1-114402024-G-C | c.146C>G | p.Ala49Gly | Missense | 2/21 | - | 14 |
1-114402030-GT-GA | c.139delinsT | p.Thr47Ser | Missense | 2/21 | - | 2 |
1-114402045-T-C | c.125A>G | p.Lys42Arg | Missense | 2/21 | - | 1 |
1-114402050-TGC-TTT | c.118_119delinsAA | p.Ala40Lys | Missense | 2/21 | - | 1 |
1-114402054-T-C | c.116A>G | p.Lys39Arg | Missense | 2/21 | - | 1 |
1-114402057-T-A | c.113A>T | p.Tyr38Phe | Missense | 2/21 | - | 1 |
1-114402062-GGT-GAG | c.106_107delinsCT | p.Thr36Leu | Missense | 2/21 | - | 2 |
1-114402065-AGA-GAG | c.103_105delinsCTC | p.Ser35Leu | Missense | 2/21 | - | 3 |
1-114402067-A-C | c.103T>G | p.Ser35Ala | Missense | 2/21 | - | 1 |
1-114402072-CT-GC | c.97_98delinsGC | p.Arg33Ala | Missense | 2/21 | - | 1 |
1-114402751-A-G | c.88-669T>C | - | IntronicSNV | - | 1/20 | 2 |
1-114402846-G-C | c.88-764C>G | - | IntronicSNV | - | 1/20 | 1 |
1-114402846-G-T | c.88-764C>A | - | IntronicSNV | - | 1/20 | 1 |
1-114404901-C-G | c.88-2819G>C | - | IntronicSNV | - | 1/20 | 1 |
1-114404901-C-T | c.88-2819G>A | - | IntronicSNV | - | 1/20 | 1 |
1-114406002-G-A | c.88-3920C>T | - | IntronicSNV | - | 1/20 | 3 |
1-114406444-T-A | c.88-4362A>T | - | IntronicSNV | - | 1/20 | 1 |
1-114406451-T-A | c.88-4369A>T | - | IntronicSNV | - | 1/20 | 11 |
1-114406451-T-C | c.88-4369A>G | - | IntronicSNV | - | 1/20 | 11 |
1-114412667-G-A | c.87+1492C>T | - | IntronicSNV | - | 1/20 | 25 |
1-114413731-C-A | c.87+428G>T | - | IntronicSNV | - | 1/20 | 3 |
1-114414108-C-T | c.87+51G>A | - | IntronicSNV | - | 1/20 | 2 |
1-114414160-AG-GC | c.85_86delinsGC | p.Leu29Ala | Missense | 1/21 | - | 1 |
1-114414163-AA-GC | c.82_83delinsGC | p.Phe28Ala | Missense | 1/21 | - | 2 |
1-114414169-T-C | c.77A>G | p.Asn26Ser | Missense | 1/21 | - | 1 |
1-114414179-C-T | c.67G>A | p.Glu23Lys | Missense | 1/21 | - | 3 |