Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
6-26087670-T-A | c.2T>A | p.M1? | Missense | 1/6 | - | 1 |
6-26087670-T-G | c.2T>G | p.M1? | Missense | 1/6 | - | 2 |
6-26087672-G-A | c.4G>A | p.G2S | Missense | 1/6 | - | 1 |
6-26087673-G-T | c.5G>T | p.G2V | Missense | 1/6 | - | 1 |
6-26087676-C-A | c.8C>A | p.P3Q | Missense | 1/6 | - | 1 |
6-26087676-C-T | c.8C>T | p.P3L | Missense | 1/6 | - | 2 |
6-26087678-C-G | c.10C>G | p.R4G | Missense | 1/6 | - | 1 |
6-26087681-G-T | c.13G>T | p.A5S | Missense | 1/6 | - | 1 |
6-26087682-C-T | c.14C>T | p.A5V | Missense | 1/6 | - | 1 |
6-26087683-C-CT | c.15_16insT | p.R6* | Nonsense | 1/6 | - | 1 |
6-26087686-G-C | c.18G>C | p.R6S | Missense | 1/6 | - | 9 |
6-26087686-G-T | c.18G>T | p.R6S | Missense | 1/6 | - | 5 |
6-26087690-G-A | c.22G>A | p.A8T | Missense | 1/6 | - | 1 |
6-26087690-G-C | c.22G>C | p.A8P | Missense | 1/6 | - | 1 |
6-26087691-C-T | c.23C>T | p.A8V | Missense | 1/6 | - | 3 |
6-26087697-T-A | c.29T>A | p.L10H | Missense | 1/6 | - | 5 |
6-26087697-T-C | c.29T>C | p.L10P | Missense | 1/6 | - | 2 |
6-26087698-C-A | c.30C>A | p.L10= | Synonymous | 1/6 | - | 1 |
6-26087698-C-G | c.30C>G | p.L10= | Synonymous | 1/6 | - | 1 |
6-26087698-C-T | c.30C>T | p.L10= | Synonymous | 1/6 | - | 1 |
6-26087701-C-T | c.33C>T | p.L11= | Synonymous | 1/6 | - | 1 |
6-26087702-C-T | c.34C>T | p.L12= | Synonymous | 1/6 | - | 2 |
6-26087708-C-T | c.40C>T | p.L14F | Missense | 1/6 | - | 1 |
6-26087715-A-G | c.47A>G | p.Q16R | Missense | 1/6 | - | 1 |
6-26087718-C-T | c.50C>T | p.T17I | Missense | 1/6 | - | 6 |
6-26087720-G-A | c.52G>A | p.A18T | Missense | 1/6 | - | 1 |
6-26087720-GC-AA | c.52_53delinsAA | p.A18K | Missense | 1/6 | - | 5 |
6-26087720-GCG-TGT | c.52_54delinsTGT | p.A18C | Missense | 1/6 | - | 1 |
6-26087727-T-C | c.59T>C | p.L20P | Missense | 1/6 | - | 1 |
6-26087731-G-C | c.63G>C | p.Q21H | Missense | 1/6 | - | 1 |
6-26087732-G-A | c.64G>A | p.G22R | Missense | 1/6 | - | 1 |
6-26087732-G-C | c.64G>C | p.G22R | Missense | 1/6 | - | 1 |
6-26087732-GGG-AAC | c.64_66delinsAAC | p.G22N | Missense | 1/6 | - | 1 |
6-26087734-G-A | c.66G>A | p.G22= | Synonymous | 1/6 | - | 1 |
6-26087735-C-G | c.67C>G | p.R23G | Missense | 1/6 | - | 1 |
6-26087735-C-T | c.67C>T | p.R23C | Missense | 1/6 | - | 2 |
6-26087733-GGC-G | c.68_69del | p.R23Lfs*25 | Frameshift | 1/6 | - | 1 |
6-26087736-G-A | c.68G>A | p.R23H | Missense | 1/6 | - | 2 |
6-26087746-T-C | c.76+2T>C | - | IntronicSNV | - | 1/5 | 1 |
6-26087856-T-A | c.76+112T>A | - | IntronicSNV | - | 1/5 | 6 |
6-26088407-A-G | c.76+663A>G | - | IntronicSNV | - | 1/5 | 1 |
6-26088890-T-C | c.76+1146T>C | - | IntronicSNV | - | 1/5 | 5 |
6-26088890-T-G | c.76+1146T>G | - | IntronicSNV | - | 1/5 | 5 |
6-26089098-C-T | c.76+1354C>T | - | IntronicSNV | - | 1/5 | 6 |
6-26090025-T-C | c.77-1044T>C | - | IntronicSNV | - | 1/5 | 1 |
6-26090381-C-G | c.77-688C>G | - | IntronicSNV | - | 1/5 | 1 |
6-26090452-T-C | c.77-617T>C | - | IntronicSNV | - | 1/5 | 1 |
6-26091070-T-A | c.78T>A | p.R26= | Synonymous | 2/6 | - | 1 |
6-26091070-T-C | c.78T>C | p.R26= | Synonymous | 2/6 | - | 1 |
6-26091070-T-G | c.78T>G | p.R26= | Synonymous | 2/6 | - | 1 |
6-26091071-T-G | c.79T>G | p.S27A | Missense | 2/6 | - | 1 |
6-26091072-C-T | c.80C>T | p.S27L | Missense | 2/6 | - | 2 |
6-26091078-C-G | c.86C>G | p.S29C | Missense | 2/6 | - | 1 |
6-26091080-C-A | c.88C>A | p.L30M | Missense | 2/6 | - | 1 |
6-26091080-CTG-GAC | c.88_90delinsGAC | p.L30D | Missense | 2/6 | - | 1 |
6-26091081-T-A | c.89T>A | p.L30Q | Missense | 2/6 | - | 1 |
6-26091080-C-T | c.88C>T | p.L30= | Synonymous | 2/6 | - | 1 |
6-26091082-G-A | c.90G>A | p.L30= | Synonymous | 2/6 | - | 1 |
6-26091082-G-C | c.90G>C | p.L30= | Synonymous | 2/6 | - | 1 |
6-26091082-G-T | c.90G>T | p.L30= | Synonymous | 2/6 | - | 1 |
6-26091083-C-G | c.91C>G | p.H31D | Missense | 2/6 | - | 1 |
6-26091088-C-A | c.96C>A | p.Y32* | Nonsense | 2/6 | - | 1 |
6-26091090-T-C | c.98T>C | p.L33P | Missense | 2/6 | - | 1 |
6-26091097-G-A | c.105G>A | p.M35I | Missense | 2/6 | - | 2 |
6-26091097-G-C | c.105G>C | p.M35I | Missense | 2/6 | - | 1 |
6-26091097-G-T | c.105G>T | p.M35I | Missense | 2/6 | - | 1 |
6-26091095-ATGGG-A | c.106_109del | p.G36Pfs*51 | Frameshift | 2/6 | - | 2 |
6-26091098-G-T | c.106G>T | p.G36C | Missense | 2/6 | - | 2 |
6-26091101-G-A | c.109G>A | p.A37T | Missense | 2/6 | - | 4 |
6-26091101-GC-TG | c.109_110delinsTG | p.A37C | Missense | 2/6 | - | 1 |
6-26091106-A-G | c.114A>G | p.S38= | Synonymous | 2/6 | - | 2 |
6-26091108-A-C | c.116A>C | p.E39A | Missense | 2/6 | - | 1 |
6-26091110-C-G | c.118C>G | p.Q40E | Missense | 2/6 | - | 4 |
6-26091113-G-A | c.121G>A | p.D41N | Missense | 2/6 | - | 1 |
6-26091114-A-C | c.122A>C | p.D41A | Missense | 2/6 | - | 1 |
6-26091117-T-G | c.125T>G | p.L42R | Missense | 2/6 | - | 1 |
6-26091120-G-A | c.128G>A | p.G43D | Missense | 2/6 | - | 6 |
6-26091120-G-C | c.128G>C | p.G43A | Missense | 2/6 | - | 1 |
6-26091121-T-A | c.129T>A | p.G43= | Synonymous | 2/6 | - | 1 |
6-26091121-T-C | c.129T>C | p.G43= | Synonymous | 2/6 | - | 2 |
6-26091121-T-G | c.129T>G | p.G43= | Synonymous | 2/6 | - | 1 |
6-26091129-T-G | c.137T>G | p.L46W | Missense | 2/6 | - | 2 |
6-26091134-G-A | c.142G>A | p.E48K | Missense | 2/6 | - | 2 |
6-26091138-C-T | c.146C>T | p.A49V | Missense | 2/6 | - | 1 |
6-26091143-G-A | c.151G>A | p.G51S | Missense | 2/6 | - | 1 |
6-26091143-G-T | c.151G>T | p.G51C | Missense | 2/6 | - | 6 |
6-26091144-GC-AG | c.152_153delinsAG | p.G51E | Missense | 2/6 | - | 1 |
6-26091145-C-T | c.153C>T | p.G51= | Synonymous | 2/6 | - | 1 |
6-26091148-C-T | c.156C>T | p.Y52= | Synonymous | 2/6 | - | 1 |
6-26091149-G-A | c.157G>A | p.V53M | Missense | 2/6 | - | 21 |
6-26091153-A-G | c.161A>G | p.D54G | Missense | 2/6 | - | 1 |
6-26091158-C-G | c.166C>G | p.Q56E | Missense | 2/6 | - | 1 |
6-26091161-C-A | c.169C>A | p.L57M | Missense | 2/6 | - | 1 |
6-26091163-G-A | c.171G>A | p.L57= | Synonymous | 2/6 | - | 1 |
6-26091167-G-A | c.175G>A | p.V59M | Missense | 2/6 | - | 16 |
6-26091176-G-A | c.184G>A | p.D62N | Missense | 2/6 | - | 1 |
6-26091178-T-G | c.186T>G | p.D62E | Missense | 2/6 | - | 1 |
6-26091179-CA-GC | c.187_188delinsGC | p.H63A | Missense | 2/6 | - | 4 |
6-26091179-CA-TT | c.187_188delinsTT | p.H63F | Missense | 2/6 | - | 1 |
6-26091179-C-G | c.187C>G | p.H63D | Missense | 2/6 | - | 1007 |
6-26091179-C-T | c.187C>T | p.H63Y | Missense | 2/6 | - | 129 |
6-26091181-T-C | c.189T>C | p.H63= | Synonymous | 2/6 | - | 18 |
6-26091184-G-C | c.192G>C | p.E64D | Missense | 2/6 | - | 1 |
6-26091184-G-T | c.192G>T | p.E64D | Missense | 2/6 | - | 1 |
6-26091185-AG-CT | c.193_194inv | p.S65L | Missense | 2/6 | - | 1 |
6-26091185-AG-GA | c.193_194delinsGA | p.S65D | Missense | 2/6 | - | 5 |
6-26091185-A-T | c.193A>T | p.S65C | Missense | 2/6 | - | 187 |
6-26091186-G-A | c.194G>A | p.S65N | Missense | 2/6 | - | 1 |
6-26091187-T-C | c.195T>C | p.S65= | Synonymous | 2/6 | - | 1 |
6-26091188-C-T | c.196C>T | p.R66C | Missense | 2/6 | - | 10 |
6-26091189-G-A | c.197G>A | p.R66H | Missense | 2/6 | - | 2 |
6-26091191-C-T | c.199C>T | p.R67C | Missense | 2/6 | - | 3 |
6-26091192-G-A | c.200G>A | p.R67H | Missense | 2/6 | - | 1 |
6-26091192-G-T | c.200G>T | p.R67L | Missense | 2/6 | - | 4 |
6-26091194-G-A | c.202G>A | p.V68M | Missense | 2/6 | - | 1 |
6-26091198-A-T | c.206A>T | p.E69V | Missense | 2/6 | - | 2 |
6-26091202-C-T | c.210C>T | p.P70= | Synonymous | 2/6 | - | 1 |
6-26091203-CGA-TGT | c.211_213delinsTGT | p.R71C | Missense | 2/6 | - | 1 |
6-26091203-C-T | c.211C>T | p.R71* | Nonsense | 2/6 | - | 6 |
6-26091204-G-A | c.212G>A | p.R71Q | Missense | 2/6 | - | 9 |
6-26091204-G-T | c.212G>T | p.R71L | Missense | 2/6 | - | 1 |
6-26091206-A-G | c.214A>G | p.T72A | Missense | 2/6 | - | 3 |
6-26091209-C-A | c.217C>A | p.P73T | Missense | 2/6 | - | 1 |
6-26091210-C-T | c.218C>T | p.P73L | Missense | 2/6 | - | 3 |
6-26091212-T-C | c.220T>C | p.W74R | Missense | 2/6 | - | 1 |
6-26091213-G-T | c.221G>T | p.W74L | Missense | 2/6 | - | 1 |
6-26091215-G-A | c.223G>A | p.V75I | Missense | 2/6 | - | 3 |
6-26091219-C-T | c.227C>T | p.S76F | Missense | 2/6 | - | 5 |
6-26091224-AGA-CAT | c.232_234delinsCAT | p.R78H | Missense | 2/6 | - | 1 |
6-26091228-T-A | c.236T>A | p.I79N | Missense | 2/6 | - | 2 |
6-26091228-T-G | c.236T>G | p.I79S | Missense | 2/6 | - | 1 |
6-26091231-C-A | c.239C>A | p.S80* | Nonsense | 2/6 | - | 1 |
6-26091232-A-C | c.240A>C | p.S80= | Synonymous | 2/6 | - | 1 |
6-26091232-A-G | c.240A>G | p.S80= | Synonymous | 2/6 | - | 1 |
6-26091232-A-T | c.240A>T | p.S80= | Synonymous | 2/6 | - | 1 |
6-26091236-C-G | c.244C>G | p.Q82E | Missense | 2/6 | - | 1 |
6-26091239-A-C | c.247A>C | p.M83L | Missense | 2/6 | - | 1 |
6-26091239-A-G | c.247A>G | p.M83V | Missense | 2/6 | - | 1 |
6-26091240-T-C | c.248T>C | p.M83T | Missense | 2/6 | - | 1 |
6-26091241-G-A | c.249G>A | p.M83I | Missense | 2/6 | - | 2 |
6-26091241-G-C | c.249G>C | p.M83I | Missense | 2/6 | - | 2 |
6-26091241-G-T | c.249G>T | p.M83I | Missense | 2/6 | - | 2 |
6-26091253-G-A | c.261G>A | p.L87= | Synonymous | 2/6 | - | 2 |
6-26091254-A-T | c.262A>T | p.S88C | Missense | 2/6 | - | 1 |
6-26091255-G-C | c.263G>C | p.S88T | Missense | 2/6 | - | 1 |
6-26091261-G-A | c.269G>A | p.S90N | Missense | 2/6 | - | 1 |
6-26091263-C-A | c.271C>A | p.L91M | Missense | 2/6 | - | 1 |
6-26091268-A-C | c.276A>C | p.K92N | Missense | 2/6 | - | 1 |
6-26091268-A-T | c.276A>T | p.K92N | Missense | 2/6 | - | 1 |
6-26091269-G-A | c.277G>A | p.G93R | Missense | 2/6 | - | 10 |
6-26091269-G-C | c.277G>C | p.G93R | Missense | 2/6 | - | 16 |
6-26091269-GGG-TGT | c.277_279delinsTGT | p.G93C | Missense | 2/6 | - | 1 |
6-26091270-G-C | c.278G>C | p.G93A | Missense | 2/6 | - | 18 |
6-26091270-GG-AC | c.278_279delinsAC | p.G93D | Missense | 2/6 | - | 3 |
6-26091270-G-T | c.278G>T | p.G93V | Missense | 2/6 | - | 1 |
6-26091268-AG-A | c.279del | p.W94Gfs*117 | Frameshift | 2/6 | - | 1 |
6-26091273-G-A | c.281G>A | p.W94* | Nonsense | 2/6 | - | 1 |
6-26091273-G-T | c.281G>T | p.W94L | Missense | 2/6 | - | 1 |
6-26091274-G-A | c.282G>A | p.W94* | Nonsense | 2/6 | - | 1 |
6-26091275-G-A | c.283G>A | p.D95N | Missense | 2/6 | - | 2 |
6-26091278-C-T | c.286C>T | p.H96Y | Missense | 2/6 | - | 2 |
6-26091280-C-T | c.288C>T | p.H96= | Synonymous | 2/6 | - | 2 |
6-26091281-A-C | c.289A>C | p.M97L | Missense | 2/6 | - | 1 |
6-26091284-T-C | c.292T>C | p.F98L | Missense | 2/6 | - | 1 |
6-26091286-C-G | c.294C>G | p.F98L | Missense | 2/6 | - | 1 |
6-26091286-C-A | c.294C>A | p.F98L | Missense | 2/6 | - | 2 |
6-26091288-C-A | c.296C>A | p.T99N | Missense | 2/6 | - | 1 |
6-26091290-G-A | c.298G>A | p.V100I | Missense | 2/6 | - | 1 |
6-26091291-T-C | c.299T>C | p.V100A | Missense | 2/6 | - | 3 |
6-26091293-G-A | c.301G>A | p.D101N | Missense | 2/6 | - | 1 |
6-26091294-A-G | c.302A>G | p.D101G | Missense | 2/6 | - | 1 |
6-26091297-TC-GG | c.305_306delinsGG | p.F102W | Missense | 2/6 | - | 1 |
6-26091298-C-T | c.306C>T | p.F102= | Synonymous | 2/6 | - | 1 |
6-26091302-A-T | c.310A>T | p.T104S | Missense | 2/6 | - | 1 |
6-26091305-A-G | c.313A>G | p.I105V | Missense | 2/6 | - | 1 |
6-26091306-T-C | c.314T>C | p.I105T | Missense | 2/6 | - | 16 |
6-26091309-T-G | c.317T>G | p.M106R | Missense | 2/6 | - | 3 |
6-26091310-G-T | c.318G>T | p.M106I | Missense | 2/6 | - | 4 |
6-26091311-GA-AG | c.319_320delinsAG | p.E107R | Missense | 2/6 | - | 2 |
6-26091311-G-T | c.319G>T | p.E107* | Nonsense | 2/6 | - | 1 |
6-26091312-A-G | c.320A>G | p.E107G | Missense | 2/6 | - | 2 |
6-26091323-C-A | c.331C>A | p.H111N | Missense | 2/6 | - | 2 |
6-26091327-G-A | c.335G>A | p.S112N | Missense | 2/6 | - | 1 |
6-26091327-G-T | c.335G>T | p.S112I | Missense | 2/6 | - | 1 |
6-26091328-C-A | c.336C>A | p.S112R | Missense | 2/6 | - | 1 |
6-26091331-G-A | c.339G>A | p.K113= | Synonymous | 2/6 | - | 1 |
6-26091332-G-A | c.340G>A | p.E114K | Missense | 2/6 | - | 2 |
6-26091332-G-C | c.340G>C | p.E114Q | Missense | 2/6 | - | 1 |
6-26091330-A-AG | c.340+1dup | - | SpliceDonorInsertion | - | 2/5 | 1 |
6-26091333-G-A | c.340+1G>A | - | IntronicSNV | - | 2/5 | 2 |
6-26091336-T-C | c.340+4T>C | - | IntronicSNV | - | 2/5 | 38 |
6-26091544-GT-G | c.343del | p.S115Pfs*96 | Frameshift | 3/6 | - | 1 |
6-26091545-C-T | c.344C>T | p.S115F | Missense | 3/6 | - | 2 |
6-26091546-C-G | c.345C>G | p.S115= | Synonymous | 3/6 | - | 1 |
6-26091546-C-T | c.345C>T | p.S115= | Synonymous | 3/6 | - | 1 |
6-26091547-C-A | c.346C>A | p.H116N | Missense | 3/6 | - | 1 |
6-26091550-A-G | c.349A>G | p.T117A | Missense | 3/6 | - | 2 |
6-26091551-C-T | c.350C>T | p.T117I | Missense | 3/6 | - | 1 |
6-26091552-C-A | c.351C>A | p.T117= | Synonymous | 3/6 | - | 1 |
6-26091552-C-G | c.351C>G | p.T117= | Synonymous | 3/6 | - | 1 |
6-26091552-C-T | c.351C>T | p.T117= | Synonymous | 3/6 | - | 1 |
6-26091556-C-A | c.355C>A | p.Q119K | Missense | 3/6 | - | 1 |
6-26091556-C-G | c.355C>G | p.Q119E | Missense | 3/6 | - | 1 |
6-26091565-C-A | c.364C>A | p.L122M | Missense | 3/6 | - | 1 |
6-26091571-T-A | c.370T>A | p.C124S | Missense | 3/6 | - | 1 |
6-26091572-G-C | c.371G>C | p.C124S | Missense | 3/6 | - | 1 |
6-26091572-G-A | c.371G>A | p.C124Y | Missense | 3/6 | - | 2 |
6-26091574-G-A | c.373G>A | p.E125K | Missense | 3/6 | - | 1 |
6-26091574-G-C | c.373G>C | p.E125Q | Missense | 3/6 | - | 1 |
6-26091577-A-G | c.376A>G | p.M126V | Missense | 3/6 | - | 1 |
6-26091582-A-C | c.381A>C | p.Q127H | Missense | 3/6 | - | 16 |
6-26091582-A-G | c.381A>G | p.Q127Q | UnclassifiedSNV | 3/6 | - | 3 |
6-26091582-A-T | c.381A>T | p.Q127H | Missense | 3/6 | - | 11 |
6-26091583-GA-AG | c.382_383delinsAG | p.E128R | Missense | 3/6 | - | 1 |
6-26091583-G-C | c.382G>C | p.E128Q | Missense | 3/6 | - | 1 |
6-26091585-A-C | c.384A>C | p.E128D | Missense | 3/6 | - | 1 |
6-26091585-A-T | c.384A>T | p.E128D | Missense | 3/6 | - | 1 |
6-26091586-G-A | c.385G>A | p.D129N | Missense | 3/6 | - | 3 |
6-26091587-A-G | c.386A>G | p.D129G | Missense | 3/6 | - | 3 |
6-26091591-C-T | c.390C>T | p.N130= | Synonymous | 3/6 | - | 3 |
6-26091594-T-A | c.393T>A | p.S131R | Missense | 3/6 | - | 1 |
6-26091598-G-A | c.397G>A | p.E133K | Missense | 3/6 | - | 2 |
6-26091601-G-C | c.400G>C | p.G134R | Missense | 3/6 | - | 1 |
6-26091602-G-A | c.401G>A | p.G134D | Missense | 3/6 | - | 2 |
6-26091603-C-T | c.402C>T | p.G134= | Synonymous | 3/6 | - | 2 |
6-26091606-C-A | c.405C>A | p.Y135* | Nonsense | 3/6 | - | 5 |
6-26091606-C-G | c.405C>G | p.Y135* | Nonsense | 3/6 | - | 2 |
6-26091612-G-A | c.411G>A | p.K137= | Synonymous | 3/6 | - | 1 |
6-26091615-C-A | c.414C>A | p.Y138* | Nonsense | 3/6 | - | 2 |
6-26091615-C-G | c.414C>G | p.Y138* | Nonsense | 3/6 | - | 3 |
6-26091615-C-T | c.414C>T | p.Y138= | Synonymous | 3/6 | - | 2 |
6-26091616-G-A | c.415G>A | p.G139R | Missense | 3/6 | - | 2 |
6-26091616-G-C | c.415G>C | p.G139R | Missense | 3/6 | - | 1 |
6-26091622-G-A | c.421G>A | p.D141N | Missense | 3/6 | - | 1 |
6-26091623-A-G | c.422A>G | p.D141G | Missense | 3/6 | - | 1 |
6-26091625-G-A | c.424G>A | p.G142R | Missense | 3/6 | - | 1 |
6-26091626-G-A | c.425G>A | p.G142E | Missense | 3/6 | - | 1 |
6-26091631-G-A | c.430G>A | p.D144N | Missense | 3/6 | - | 1 |
6-26091637-C-T | c.436C>T | p.L146F | Missense | 3/6 | - | 3 |
6-26091640-G-T | c.439G>T | p.E147* | Nonsense | 3/6 | - | 2 |
6-26091643-TT-GC | c.442_443delinsGC | p.F148A | Missense | 3/6 | - | 1 |
6-26091644-T-C | c.443T>C | p.F148S | Missense | 3/6 | - | 1 |
6-26091646-TG-AC | c.445_446delinsAC | p.C149T | Missense | 3/6 | - | 1 |
6-26091649-C-T | c.448C>T | p.P150S | Missense | 3/6 | - | 1 |
6-26091652-G-A | c.451G>A | p.D151N | Missense | 3/6 | - | 1 |
6-26091655-A-G | c.454A>G | p.T152A | Missense | 3/6 | - | 1 |
6-26091657-A-G | c.456A>G | p.T152= | Synonymous | 3/6 | - | 1 |
6-26091659-T-C | c.458T>C | p.L153P | Missense | 3/6 | - | 1 |
6-26091658-C-T | c.457C>T | p.L153= | Synonymous | 3/6 | - | 2 |
6-26091660-G-A | c.459G>A | p.L153= | Synonymous | 3/6 | - | 2 |
6-26091660-G-C | c.459G>C | p.L153= | Synonymous | 3/6 | - | 2 |
6-26091660-G-T | c.459G>T | p.L153= | Synonymous | 3/6 | - | 2 |
6-26091661-G-A | c.460G>A | p.D154N | Missense | 3/6 | - | 1 |
6-26091667-AGA-CAT | c.466_468delinsCAT | p.R156H | Missense | 3/6 | - | 2 |
6-26091667-AGA-TGT | c.466_468delinsTGT | p.R156C | Missense | 3/6 | - | 2 |
6-26091667-AG-CC | c.466_467delinsCC | p.R156P | Missense | 3/6 | - | 1 |
6-26091669-A-C | c.468A>C | p.R156S | Missense | 3/6 | - | 1 |
6-26091669-A-T | c.468A>T | p.R156S | Missense | 3/6 | - | 1 |
6-26091670-G-A | c.469G>A | p.A157T | Missense | 3/6 | - | 1 |
6-26091672-CA-C | c.471del | p.A158Qfs*53 | Frameshift | 3/6 | - | 1 |
6-26091679-C-A | c.478C>A | p.P160T | Missense | 3/6 | - | 1 |
6-26091679-C-T | c.478C>T | p.P160S | Missense | 3/6 | - | 1 |
6-26091680-C-G | c.479C>G | p.P160R | Missense | 3/6 | - | 1 |
6-26091678-AC-A | c.480del | p.R161Gfs*50 | Frameshift | 3/6 | - | 1 |
6-26091685-G-A | c.484G>A | p.A162T | Missense | 3/6 | - | 1 |
6-26091687-C-T | c.486C>T | p.A162= | Synonymous | 3/6 | - | 1 |
6-26091688-T-C | c.487T>C | p.W163R | Missense | 3/6 | - | 1 |
6-26091691-C-G | c.490C>G | p.P164A | Missense | 3/6 | - | 1 |
6-26091691-C-T | c.490C>T | p.P164S | Missense | 3/6 | - | 1 |
6-26091694-A-G | c.493A>G | p.T165A | Missense | 3/6 | - | 1 |
6-26091698-A-G | c.497A>G | p.K166R | Missense | 3/6 | - | 2 |
6-26091701-TGGA-T | c.502_504del | p.E168del | InFrameDeletion | 3/6 | - | 1 |
6-26091703-G-C | c.502G>C | p.E168Q | Missense | 3/6 | - | 14 |
6-26091703-G-T | c.502G>T | p.E168* | Nonsense | 3/6 | - | 15 |
6-26091706-T-C | c.505T>C | p.W169R | Missense | 3/6 | - | 1 |
6-26091707-G-A | c.506G>A | p.W169* | Nonsense | 3/6 | - | 10 |
6-26091708-G-A | c.507G>A | p.W169* | Nonsense | 3/6 | - | 8 |
6-26091709-G-A | c.508G>A | p.E170K | Missense | 3/6 | - | 2 |
6-26091716-A-G | c.515A>G | p.H172R | Missense | 3/6 | - | 3 |
6-26091720-G-A | c.519G>A | p.K173= | Synonymous | 3/6 | - | 1 |
6-26091723-T-G | c.522T>G | p.I174M | Missense | 3/6 | - | 2 |
6-26091724-C-A | c.523C>A | p.R175= | Synonymous | 3/6 | - | 1 |
6-26091724-C-T | c.523C>T | p.R175W | Missense | 3/6 | - | 7 |
6-26091726-G-A | c.525G>A | p.R175= | Synonymous | 3/6 | - | 1 |
6-26091726-G-C | c.525G>C | p.R175= | Synonymous | 3/6 | - | 1 |
6-26091726-G-T | c.525G>T | p.R175= | Synonymous | 3/6 | - | 1 |
6-26091725-G-A | c.524G>A | p.R175Q | Missense | 3/6 | - | 1 |
6-26091727-G-A | c.526G>A | p.A176T | Missense | 3/6 | - | 1 |
6-26091728-C-T | c.527C>T | p.A176V | Missense | 3/6 | - | 4 |
6-26091730-AG-TA | c.529_530delinsTA | p.R177* | Nonsense | 3/6 | - | 1 |
6-26091733-C-T | c.532C>T | p.Q178* | Nonsense | 3/6 | - | 1 |
6-26091736-A-T | c.535A>T | p.N179Y | Missense | 3/6 | - | 1 |
6-26091740-G-A | c.539G>A | p.R180K | Missense | 3/6 | - | 1 |
6-26091739-A-C | c.538A>C | p.R180= | Synonymous | 3/6 | - | 1 |
6-26091741-G-A | c.540G>A | p.R180= | Synonymous | 3/6 | - | 2 |
6-26091742-G-T | c.541G>T | p.A181S | Missense | 3/6 | - | 2 |
6-26091743-C-T | c.542C>T | p.A181V | Missense | 3/6 | - | 1 |
6-26091744-C-T | c.543C>T | p.A181= | Synonymous | 3/6 | - | 2 |
6-26091745-T-C | c.544T>C | p.Y182H | Missense | 3/6 | - | 2 |
6-26091742-GCCTA-G | c.545_548del | p.Y182Wfs*28 | Frameshift | 3/6 | - | 1 |
6-26091746-A-G | c.545A>G | p.Y182C | Missense | 3/6 | - | 1 |
6-26091747-ACC-A | c.546_547del | p.L183Gfs*60 | Frameshift | 3/6 | - | 2 |
6-26091747-C-A | c.546C>A | p.Y182* | Nonsense | 3/6 | - | 1 |
6-26091749-T-C | c.548T>C | p.L183P | Missense | 3/6 | - | 4 |
6-26091748-C-T | c.547C>T | p.L183= | Synonymous | 3/6 | - | 2 |
6-26091750-G-A | c.549G>A | p.L183= | Synonymous | 3/6 | - | 2 |
6-26091750-G-C | c.549G>C | p.L183= | Synonymous | 3/6 | - | 2 |
6-26091750-G-T | c.549G>T | p.L183= | Synonymous | 3/6 | - | 2 |
6-26091751-G-A | c.550G>A | p.E184K | Missense | 3/6 | - | 1 |
6-26091754-A-G | c.553A>G | p.R185G | Missense | 3/6 | - | 1 |
6-26091760-T-G | c.559T>G | p.C187G | Missense | 3/6 | - | 12 |
6-26091763-C-A | c.562C>A | p.P188T | Missense | 3/6 | - | 1 |
6-26091764-C-T | c.563C>T | p.P188L | Missense | 3/6 | - | 1 |
6-26091769-C-T | c.568C>T | p.Q190* | Nonsense | 3/6 | - | 1 |
6-26091775-C-T | c.574C>T | p.Q192* | Nonsense | 3/6 | - | 2 |
6-26091776-A-G | c.575A>G | p.Q192R | Missense | 3/6 | - | 5 |
6-26091776-A-T | c.575A>T | p.Q192L | Missense | 3/6 | - | 3 |
6-26091782-T-C | c.581T>C | p.L194S | Missense | 3/6 | - | 1 |
6-26091787-G-A | c.586G>A | p.E196K | Missense | 3/6 | - | 1 |
6-26091788-A-G | c.587A>G | p.E196G | Missense | 3/6 | - | 1 |
6-26091789-G-C | c.588G>C | p.E196D | Missense | 3/6 | - | 1 |
6-26091789-G-T | c.588G>T | p.E196D | Missense | 3/6 | - | 1 |
6-26091790-C-A | c.589C>A | p.L197M | Missense | 3/6 | - | 1 |
6-26091790-C-T | c.589C>T | p.L197= | Synonymous | 3/6 | - | 2 |
6-26091792-G-A | c.591G>A | p.L197= | Synonymous | 3/6 | - | 2 |
6-26091792-G-C | c.591G>C | p.L197= | Synonymous | 3/6 | - | 2 |
6-26091792-G-T | c.591G>T | p.L197= | Synonymous | 3/6 | - | 2 |
6-26091793-G-A | c.592G>A | p.G198R | Missense | 3/6 | - | 1 |
6-26091793-G-C | c.592G>C | p.G198R | Missense | 3/6 | - | 1 |
6-26091795-G-A | c.594G>A | p.G198= | Synonymous | 3/6 | - | 2 |
6-26091796-AGA-CAT | c.595_597delinsCAT | p.R199H | Missense | 3/6 | - | 1 |
6-26091797-G-C | c.596G>C | p.R199T | Missense | 3/6 | - | 1 |
6-26091800-G-T | c.599G>T | p.G200V | Missense | 3/6 | - | 1 |
6-26091801-T-C | c.600T>C | p.G200= | Synonymous | 3/6 | - | 2 |
6-26091804-T-A | c.603T>A | p.V201= | Synonymous | 3/6 | - | 1 |
6-26091804-T-C | c.603T>C | p.V201= | Synonymous | 3/6 | - | 1 |
6-26091804-T-G | c.603T>G | p.V201= | Synonymous | 3/6 | - | 1 |
6-26091805-TT-CC | c.604_605delinsCC | p.L202P | Missense | 3/6 | - | 1 |
6-26091806-TG-T | c.607del | p.D203Tfs*8 | Frameshift | 3/6 | - | 1 |
6-26091808-G-A | c.607G>A | p.D203N | Missense | 3/6 | - | 1 |
6-26091808-G-T | c.607G>T | p.D203Y | Missense | 3/6 | - | 1 |
6-26091811-C-A | c.610C>A | p.Q204K | Missense | 3/6 | - | 2 |
6-26091812-A-G | c.611A>G | p.Q204R | Missense | 3/6 | - | 1 |
6-26091818-G-T | c.616+1G>T | - | IntronicSNV | - | 3/5 | 2 |
6-26092170-G-T | c.616+353G>T | - | IntronicSNV | - | 3/5 | 4 |
6-26092850-T-A | c.617-63T>A | - | IntronicSNV | - | 3/5 | 1 |
6-26092855-G-A | c.617-58G>A | - | IntronicSNV | - | 3/5 | 1 |
6-26092860-C-T | c.617-53C>T | - | IntronicSNV | - | 3/5 | 1 |
6-26092865-C-G | c.617-48C>G | - | IntronicSNV | - | 3/5 | 2 |
6-26092865-C-T | c.617-48C>T | - | IntronicSNV | - | 3/5 | 2 |
6-26092869-G-A | c.617-44G>A | - | IntronicSNV | - | 3/5 | 1 |
6-26092883-C-T | c.617-30C>T | - | IntronicSNV | - | 3/5 | 1 |
6-26092914-G-A | c.618G>A | p.V206= | Synonymous | 4/6 | - | 1 |
6-26092916-C-T | c.620C>T | p.P207L | Missense | 4/6 | - | 8 |
6-26092918-C-T | c.622C>T | p.P208S | Missense | 4/6 | - | 2 |
6-26092919-C-A | c.623C>A | p.P208H | Missense | 4/6 | - | 1 |
6-26092919-C-T | c.623C>T | p.P208L | Missense | 4/6 | - | 2 |
6-26092921-T-C | c.625T>C | p.L209= | Synonymous | 4/6 | - | 2 |
6-26092923-G-A | c.627G>A | p.L209= | Synonymous | 4/6 | - | 1 |
6-26092925-T-C | c.629T>C | p.V210A | Missense | 4/6 | - | 1 |
6-26092925-T-G | c.629T>G | p.V210G | Missense | 4/6 | - | 1 |
6-26092931-T-C | c.635T>C | p.V212A | Missense | 4/6 | - | 1 |
6-26092931-T-G | c.635T>G | p.V212G | Missense | 4/6 | - | 1 |
6-26092933-A-G | c.637A>G | p.T213A | Missense | 4/6 | - | 2 |
6-26092936-C-T | c.640C>T | p.H214Y | Missense | 4/6 | - | 1 |
6-26092939-C-T | c.643C>T | p.H215Y | Missense | 4/6 | - | 3 |
6-26092942-G-A | c.646G>A | p.V216M | Missense | 4/6 | - | 1 |
6-26092943-T-C | c.647T>C | p.V216A | Missense | 4/6 | - | 3 |
6-26092945-A-G | c.649A>G | p.T217A | Missense | 4/6 | - | 2 |
6-26092946-C-T | c.650C>T | p.T217I | Missense | 4/6 | - | 2 |
6-26092948-TC-GA | c.652_653inv | p.S218D | Missense | 4/6 | - | 1 |
6-26092949-C-T | c.653C>T | p.S218F | Missense | 4/6 | - | 1 |
6-26092961-C-T | c.665C>T | p.T222I | Missense | 4/6 | - | 1 |
6-26092963-C-T | c.667C>T | p.L223= | Synonymous | 4/6 | - | 1 |
6-26092966-C-G | c.670C>G | p.R224G | Missense | 4/6 | - | 3 |
6-26092966-C-T | c.670C>T | p.R224W | Missense | 4/6 | - | 3 |
6-26092967-G-A | c.671G>A | p.R224Q | Missense | 4/6 | - | 3 |
6-26092968-G-A | c.672G>A | p.R224= | Synonymous | 4/6 | - | 1 |
6-26092970-G-A | c.674G>A | p.C225Y | Missense | 4/6 | - | 3 |
6-26092972-C-G | c.676C>G | p.R226G | Missense | 4/6 | - | 2 |
6-26092972-C-T | c.676C>T | p.R226W | Missense | 4/6 | - | 2 |
6-26092973-G-A | c.677G>A | p.R226Q | Missense | 4/6 | - | 3 |
6-26092979-T-C | c.683T>C | p.L228S | Missense | 4/6 | - | 1 |
6-26092980-G-C | c.684G>C | p.L228F | Missense | 4/6 | - | 2 |
6-26092980-G-T | c.684G>T | p.L228F | Missense | 4/6 | - | 4 |
6-26092985-A-T | c.689A>T | p.Y230F | Missense | 4/6 | - | 1 |
6-26092986-C-T | c.690C>T | p.Y230= | Synonymous | 4/6 | - | 3 |
6-26092981-AACT-A | c.691_693del | p.Y231del | InFrameDeletion | 4/6 | - | 6 |
6-26092988-A-G | c.692A>G | p.Y231C | Missense | 4/6 | - | 1 |
6-26092989-C-A | c.693C>A | p.Y231* | Nonsense | 4/6 | - | 1 |
6-26092989-C-G | c.693C>G | p.Y231* | Nonsense | 4/6 | - | 1 |
6-26092990-CCC-ATG | c.694_696delinsATG | p.P232M | Missense | 4/6 | - | 1 |
6-26092990-CC-TT | c.694_695delinsTT | p.P232F | Missense | 4/6 | - | 1 |
6-26092992-C-A | c.696C>A | p.P232= | Synonymous | 4/6 | - | 1 |
6-26092992-C-G | c.696C>G | p.P232= | Synonymous | 4/6 | - | 1 |
6-26092992-C-T | c.696C>T | p.P232= | Synonymous | 4/6 | - | 1 |
6-26092988-AC-A | c.697del | p.Q233Rfs*5 | Frameshift | 4/6 | - | 1 |
6-26092993-C-A | c.697C>A | p.Q233K | Missense | 4/6 | - | 1 |
6-26092993-C-T | c.697C>T | p.Q233* | Nonsense | 4/6 | - | 3 |
6-26092994-A-G | c.698A>G | p.Q233R | Missense | 4/6 | - | 1 |
6-26092995-G-C | c.699G>C | p.Q233H | Missense | 4/6 | - | 2 |
6-26092995-G-T | c.699G>T | p.Q233H | Missense | 4/6 | - | 4 |
6-26092995-GAAC-G | c.701_703del | p.N234del | InFrameDeletion | 4/6 | - | 1 |
6-26092996-A-AACTACTACTAAGCC | c.702_703insTACTACTAAGCCAC | p.I235Yfs*3 | Frameshift | 4/6 | - | 1 |
6-26092998-C-A | c.702C>A | p.N234K | Missense | 4/6 | - | 1 |
6-26092998-C-G | c.702C>G | p.N234K | Missense | 4/6 | - | 1 |
6-26093003-C-G | c.707C>G | p.T236S | Missense | 4/6 | - | 1 |
6-26093004-C-T | c.708C>T | p.T236= | Synonymous | 4/6 | - | 1 |
6-26093006-T-A | c.710T>A | p.M237K | Missense | 4/6 | - | 1 |
6-26093008-A-T | c.712A>T | p.K238* | Nonsense | 4/6 | - | 2 |
6-26093009-AGTG-A | c.715_717del | p.W239del | InFrameDeletion | 4/6 | - | 1 |
6-26093011-T-C | c.715T>C | p.W239R | Missense | 4/6 | - | 1 |
6-26093012-G-A | c.716G>A | p.W239* | Nonsense | 4/6 | - | 3 |
6-26093013-G-A | c.717G>A | p.W239* | Nonsense | 4/6 | - | 2 |
6-26093013-G-T | c.717G>T | p.W239C | Missense | 4/6 | - | 1 |
6-26093014-C-T | c.718C>T | p.L240= | Synonymous | 4/6 | - | 1 |
6-26093016-G-A | c.720G>A | p.L240= | Synonymous | 4/6 | - | 1 |
6-26093016-G-C | c.720G>C | p.L240= | Synonymous | 4/6 | - | 1 |
6-26093016-G-T | c.720G>T | p.L240= | Synonymous | 4/6 | - | 1 |
6-26093018-A-T | c.722A>T | p.K241M | Missense | 4/6 | - | 2 |
6-26093020-G-A | c.724G>A | p.D242N | Missense | 4/6 | - | 1 |
6-26093020-G-T | c.724G>T | p.D242Y | Missense | 4/6 | - | 4 |
6-26093022-T-C | c.726T>C | p.D242= | Synonymous | 4/6 | - | 1 |
6-26093026-C-T | c.730C>T | p.Q244* | Nonsense | 4/6 | - | 3 |
6-26093028-G-T | c.732G>T | p.Q244H | Missense | 4/6 | - | 1 |
6-26093030-C-G | c.734C>G | p.P245R | Missense | 4/6 | - | 1 |
6-26093030-C-T | c.734C>T | p.P245L | Missense | 4/6 | - | 1 |
6-26093033-TG-T | c.739del | p.D247Mfs*22 | UnclassifiedDeletion | 4/6 | - | 1 |
6-26093038-G-T | c.742G>T | p.A248S | Missense | 4/6 | - | 2 |
6-26093039-C-G | c.743C>G | p.A248G | Missense | 4/6 | - | 7 |
6-26093042-A-G | c.746A>G | p.K249R | Missense | 4/6 | - | 1 |
6-26093043-G-A | c.747G>A | p.K249= | Synonymous | 4/6 | - | 3 |
6-26093044-G-A | c.748G>A | p.E250K | Missense | 4/6 | - | 2 |
6-26093049-C-T | c.753C>T | p.F251= | Synonymous | 4/6 | - | 4 |
6-26093050-G-A | c.754G>A | p.E252K | Missense | 4/6 | - | 2 |
6-26093055-TA-T | c.762del | p.D255Tfs*14 | Frameshift | 4/6 | - | 2 |
6-26093059-G-T | c.763G>T | p.D255Y | Missense | 4/6 | - | 2 |
6-26093061-C-T | c.765C>T | p.D255= | Synonymous | 4/6 | - | 1 |
6-26093062-G-A | c.766G>A | p.V256I | Missense | 4/6 | - | 3 |
6-26093064-A-C | c.768A>C | p.V256= | Synonymous | 4/6 | - | 1 |
6-26093064-A-G | c.768A>G | p.V256= | Synonymous | 4/6 | - | 1 |
6-26093064-A-T | c.768A>T | p.V256= | Synonymous | 4/6 | - | 1 |
6-26093068-C-T | c.772C>T | p.P258S | Missense | 4/6 | - | 1 |
6-26093072-A-G | c.776A>G | p.N259S | Missense | 4/6 | - | 1 |
6-26093075-G-A | c.779G>A | p.G260E | Missense | 4/6 | - | 1 |
6-26093075-G-T | c.779G>T | p.G260V | Missense | 4/6 | - | 3 |
6-26093077-G-A | c.781G>A | p.D261N | Missense | 4/6 | - | 1 |
6-26093081-G-A | c.785G>A | p.G262E | Missense | 4/6 | - | 2 |
6-26093088-C-G | c.792C>G | p.Y264* | Nonsense | 4/6 | - | 1 |
6-26093088-C-T | c.792C>T | p.Y264= | Synonymous | 4/6 | - | 1 |
6-26093089-C-A | c.793C>A | p.Q265K | Missense | 4/6 | - | 1 |
6-26093089-C-T | c.793C>T | p.Q265* | Nonsense | 4/6 | - | 1 |
6-26093110-G-C | c.814G>C | p.V272L | Missense | 4/6 | - | 2 |
6-26093110-G-T | c.814G>T | p.V272L | Missense | 4/6 | - | 2 |
6-26093113-CCC-ATG | c.817_819delinsATG | p.P273M | Missense | 4/6 | - | 1 |
6-26093113-CC-TT | c.817_818delinsTT | p.P273F | Missense | 4/6 | - | 1 |
6-26093114-C-T | c.818C>T | p.P273L | Missense | 4/6 | - | 3 |
6-26093115-C-T | c.819C>T | p.P273= | Synonymous | 4/6 | - | 1 |
6-26093116-C-A | c.820C>A | p.P274T | Missense | 4/6 | - | 1 |
6-26093112-AC-A | c.821del | p.P274Lfs*22 | Frameshift | 4/6 | - | 1 |
6-26093121-G-A | c.825G>A | p.G275= | Synonymous | 4/6 | - | 1 |
6-26093121-G-C | c.825G>C | p.G275= | Synonymous | 4/6 | - | 1 |
6-26093121-G-T | c.825G>T | p.G275= | Synonymous | 4/6 | - | 1 |
6-26093122-G-A | c.826G>A | p.E276K | Missense | 4/6 | - | 1 |
6-26093125-G-A | c.829G>A | p.E277K | Missense | 4/6 | - | 13 |
6-26093127-G-A | c.831G>A | p.E277= | Synonymous | 4/6 | - | 1 |
6-26093131-AGA-TGG | c.835_837delinsTGG | p.R279W | Missense | 4/6 | - | 1 |
6-26093132-G-A | c.836G>A | p.R279K | Missense | 4/6 | - | 1 |
6-26093135-A-G | c.839A>G | p.Y280C | Missense | 4/6 | - | 1 |
6-26093137-A-G | c.841A>G | p.T281A | Missense | 4/6 | - | 1 |
6-26093138-C-A | c.842C>A | p.T281K | Missense | 4/6 | - | 1 |
6-26093138-C-T | c.842C>T | p.T281M | Missense | 4/6 | - | 3 |
6-26093139-G-A | c.843G>A | p.T281= | Synonymous | 4/6 | - | 2 |
6-26093139-G-C | c.843G>C | p.T281= | Synonymous | 4/6 | - | 1 |
6-26093139-G-T | c.843G>T | p.T281= | Synonymous | 4/6 | - | 1 |
6-26093140-T-A | c.844T>A | p.C282S | Missense | 4/6 | - | 2 |
6-26093140-TG-AC | c.844_845delinsAC | p.C282T | Missense | 4/6 | - | 5 |
6-26093140-TG-CA | c.844_845inv | p.C282H | Missense | 4/6 | - | 1 |
6-26093141-G-C | c.845G>C | p.C282S | Missense | 4/6 | - | 2 |
6-26093141-G-A | c.845G>A | p.C282Y | Missense | 4/6 | - | 1414 |
6-26093142-C-T | c.846C>T | p.C282= | Synonymous | 4/6 | - | 1 |
6-26093143-C-G | c.847C>G | p.Q283E | Missense | 4/6 | - | 1 |
6-26093144-A-C | c.848A>C | p.Q283P | Missense | 4/6 | - | 23 |
6-26093145-G-A | c.849G>A | p.Q283= | Synonymous | 4/6 | - | 3 |
6-26093146-G-A | c.850G>A | p.V284M | Missense | 4/6 | - | 1 |
6-26093146-G-T | c.850G>T | p.V284L | Missense | 4/6 | - | 1 |
6-26093148-G-A | c.852G>A | p.V284= | Synonymous | 4/6 | - | 2 |
6-26093149-G-T | c.853G>T | p.E285* | Nonsense | 4/6 | - | 1 |
6-26093150-A-C | c.854A>C | p.E285A | Missense | 4/6 | - | 1 |
6-26093161-C-A | c.865C>A | p.L289M | Missense | 4/6 | - | 1 |
6-26093161-C-T | c.865C>T | p.L289= | Synonymous | 4/6 | - | 1 |
6-26093163-G-A | c.867G>A | p.L289= | Synonymous | 4/6 | - | 4 |
6-26093163-G-C | c.867G>C | p.L289= | Synonymous | 4/6 | - | 1 |
6-26093163-G-T | c.867G>T | p.L289= | Synonymous | 4/6 | - | 1 |
6-26093167-C-G | c.871C>G | p.Q291E | Missense | 4/6 | - | 1 |
6-26093167-C-T | c.871C>T | p.Q291* | Nonsense | 4/6 | - | 2 |
6-26093174-T-C | c.878T>C | p.L293P | Missense | 4/6 | - | 1 |
6-26093177-T-C | c.881T>C | p.I294T | Missense | 4/6 | - | 1 |
6-26093180-T-A | c.884T>A | p.V295E | Missense | 4/6 | - | 1 |
6-26093180-T-C | c.884T>C | p.V295A | Missense | 4/6 | - | 8 |
6-26093182-A-G | c.886A>G | p.I296V | Missense | 4/6 | - | 1 |
6-26093186-G-A | c.890G>A | p.W297* | Nonsense | 4/6 | - | 2 |
6-26093187-G-A | c.891G>A | p.W297* | Nonsense | 4/6 | - | 1 |
6-26093188-G-T | c.892G>T | p.E298* | Nonsense | 4/6 | - | 2 |
6-26093189-G-T | c.892+1G>T | - | IntronicSNV | - | 4/5 | 2 |
6-26093190-T-C | c.892+2T>C | - | IntronicSNV | - | 4/5 | 1 |
6-26093236-G-A | c.892+48G>A | - | IntronicSNV | - | 4/5 | 12 |
6-26093297-G-A | c.893-50G>A | - | IntronicSNV | - | 4/5 | 1 |
6-26093303-T-C | c.893-44T>C | - | IntronicSNV | - | 4/5 | 10 |
6-26093346-G-C | c.893-1G>C | - | IntronicSNV | - | 4/5 | 1 |
6-26093348-G-C | c.894G>C | p.E298D | Missense | 5/6 | - | 7 |
6-26093348-G-T | c.894G>T | p.E298D | Missense | 5/6 | - | 8 |
6-26093349-C-A | c.895C>A | p.P299T | Missense | 5/6 | - | 1 |
6-26093350-C-T | c.896C>T | p.P299L | Missense | 5/6 | - | 1 |
6-26093353-C-G | c.899C>G | p.S300* | Nonsense | 5/6 | - | 1 |
6-26093355-CC-AT | c.901_902delinsAT | p.P301M | Missense | 5/6 | - | 1 |
6-26093355-CCG-TTT | c.901_903delinsTTT | p.P301F | Missense | 5/6 | - | 1 |
6-26093355-C-T | c.901C>T | p.P301S | Missense | 5/6 | - | 2 |
6-26093356-C-T | c.902C>T | p.P301L | Missense | 5/6 | - | 5 |
6-26093357-G-A | c.903G>A | p.P301= | Synonymous | 5/6 | - | 1 |
6-26093357-G-C | c.903G>C | p.P301= | Synonymous | 5/6 | - | 1 |
6-26093357-G-T | c.903G>T | p.P301= | Synonymous | 5/6 | - | 1 |
6-26093362-G-A | c.908G>A | p.G303D | Missense | 5/6 | - | 1 |
6-26093362-G-T | c.908G>T | p.G303V | Missense | 5/6 | - | 1 |
6-26093372-C-A | c.918C>A | p.V306= | Synonymous | 5/6 | - | 1 |
6-26093372-C-G | c.918C>G | p.V306= | Synonymous | 5/6 | - | 1 |
6-26093372-C-T | c.918C>T | p.V306= | Synonymous | 5/6 | - | 1 |
6-26093373-A-G | c.919A>G | p.I307V | Missense | 5/6 | - | 1 |
6-26093376-G-A | c.922G>A | p.G308R | Missense | 5/6 | - | 3 |
6-26093376-G-C | c.922G>C | p.G308R | Missense | 5/6 | - | 1 |
6-26093376-GGA-TGT | c.922_924delinsTGT | p.G308C | Missense | 5/6 | - | 1 |
6-26093377-G-A | c.923G>A | p.G308E | Missense | 5/6 | - | 1 |
6-26093380-T-C | c.926T>C | p.V309A | Missense | 5/6 | - | 1 |
6-26093381-C-A | c.927C>A | p.V309= | Synonymous | 5/6 | - | 1 |
6-26093381-C-G | c.927C>G | p.V309= | Synonymous | 5/6 | - | 1 |
6-26093381-C-T | c.927C>T | p.V309= | Synonymous | 5/6 | - | 1 |
6-26093384-C-G | c.930C>G | p.I310M | Missense | 5/6 | - | 1 |
6-26093385-AG-TA | c.931_932delinsTA | p.S311Y | Missense | 5/6 | - | 1 |
6-26093385-A-T | c.931A>T | p.S311C | Missense | 5/6 | - | 1 |
6-26093386-G-A | c.932G>A | p.S311N | Missense | 5/6 | - | 1 |
6-26093388-G-T | c.934G>T | p.G312* | Nonsense | 5/6 | - | 1 |
6-26093394-G-A | c.940G>A | p.A314T | Missense | 5/6 | - | 1 |
6-26093394-G-C | c.940G>C | p.A314P | Missense | 5/6 | - | 1 |
6-26093394-G-T | c.940G>T | p.A314S | Missense | 5/6 | - | 1 |
6-26093395-C-T | c.941C>T | p.A314V | Missense | 5/6 | - | 1 |
6-26093396-T-A | c.942T>A | p.A314= | Synonymous | 5/6 | - | 1 |
6-26093396-T-C | c.942T>C | p.A314= | Synonymous | 5/6 | - | 1 |
6-26093396-T-G | c.942T>G | p.A314= | Synonymous | 5/6 | - | 1 |
6-26093401-T-G | c.947T>G | p.F316C | Missense | 5/6 | - | 1 |
6-26093403-G-T | c.949G>T | p.V317F | Missense | 5/6 | - | 1 |
6-26093406-G-A | c.952G>A | p.V318I | Missense | 5/6 | - | 1 |
6-26093406-G-C | c.952G>C | p.V318L | Missense | 5/6 | - | 1 |
6-26093407-T-C | c.953T>C | p.V318A | Missense | 5/6 | - | 1 |
6-26093411-C-T | c.957C>T | p.I319= | Synonymous | 5/6 | - | 1 |
6-26093412-TT-CC | c.958_959delinsCC | p.L320P | Missense | 5/6 | - | 1 |
6-26093422-G-A | c.968G>A | p.G323E | Missense | 5/6 | - | 1 |
6-26093422-G-T | c.968G>T | p.G323V | Missense | 5/6 | - | 3 |
6-26093432-C-G | c.978C>G | p.F326L | Missense | 5/6 | - | 1 |
6-26093433-AT-GC | c.979_980delinsGC | p.I327A | Missense | 5/6 | - | 2 |
6-26093440-T-A | c.986T>A | p.L329* | Nonsense | 5/6 | - | 1 |
6-26093440-T-G | c.986T>G | p.L329* | Nonsense | 5/6 | - | 1 |
6-26093443-G-C | c.989G>C | p.R330T | Missense | 5/6 | - | 2 |
6-26093443-G-T | c.989G>T | p.R330M | Missense | 5/6 | - | 8 |
6-26093444-G-T | c.990G>T | p.R330S | Missense | 5/6 | - | 1 |
6-26093446-A-G | c.992A>G | p.K331R | Missense | 5/6 | - | 1 |
6-26093447-G-C | c.993G>C | p.K331N | Missense | 5/6 | - | 1 |
6-26093447-G-T | c.993G>T | p.K331N | Missense | 5/6 | - | 1 |
6-26093448-AGG-CAT | c.994_996delinsCAT | p.R332H | Missense | 5/6 | - | 1 |
6-26093449-G-A | c.995G>A | p.R332K | Missense | 5/6 | - | 2 |
6-26093454-G-A | c.1000G>A | p.G334S | Missense | 5/6 | - | 1 |
6-26093455-G-A | c.1001G>A | p.G334D | Missense | 5/6 | - | 2 |
6-26093457-TCA-ATG | c.1003_1005delinsATG | p.S335M | Missense | 5/6 | - | 1 |
6-26093457-T-G | c.1003T>G | p.S335A | Missense | 5/6 | - | 1 |
6-26093461-G-A | c.1006+1G>A | - | IntronicSNV | - | 5/5 | 2 |
6-26093462-T-A | c.1006+2T>A | - | IntronicSNV | - | 5/5 | 1 |
6-26094026-G-A | c.1007-388G>A | - | IntronicSNV | - | 5/5 | 7 |
6-26094026-G-C | c.1007-388G>C | - | IntronicSNV | - | 5/5 | 7 |
6-26094026-G-T | c.1007-388G>T | - | IntronicSNV | - | 5/5 | 7 |
6-26094367-G-A | c.1007-47G>A | - | IntronicSNV | - | 5/5 | 24 |
6-26094367-G-T | c.1007-47G>T | - | IntronicSNV | - | 5/5 | 24 |
6-26094414-G-A | c.1007G>A | p.R336K | Missense | 6/6 | - | 1 |
6-26094417-G-A | c.1010G>A | p.G337E | Missense | 6/6 | - | 2 |
6-26094419-G-T | c.1012G>T | p.A338S | Missense | 6/6 | - | 2 |
6-26094421-C-A | c.1014C>A | p.A338= | Synonymous | 6/6 | - | 1 |
6-26094421-C-G | c.1014C>G | p.A338= | Synonymous | 6/6 | - | 1 |
6-26094421-C-T | c.1014C>T | p.A338= | Synonymous | 6/6 | - | 1 |
6-26094428-CAC-TAA | c.1021_1023delinsTAA | p.H341* | Nonsense | 6/6 | - | 1 |
6-26094426-GGCACTACGTCTTA-G | c.1022_1034del | p.H341Lfs*119 | Frameshift | 6/6 | - | 1 |
6-26094430-C-T | c.1023C>T | p.H341= | Synonymous | 6/6 | - | 1 |
6-26094431-T-C | c.1024T>C | p.Y342H | Missense | 6/6 | - | 2 |
6-26094432-A-G | c.1025A>G | p.Y342C | Missense | 6/6 | - | 2 |
6-26094432-A-T | c.1025A>T | p.Y342F | Missense | 6/6 | - | 2 |
6-26094433-C-A | c.1026C>A | p.Y342* | Nonsense | 6/6 | - | 1 |
6-26094433-C-T | c.1026C>T | p.Y342= | Synonymous | 6/6 | - | 3 |
6-26094434-G-A | c.1027G>A | p.V343I | Missense | 6/6 | - | 2 |
6-26094436-C-A | c.1029C>A | p.V343= | Synonymous | 6/6 | - | 1 |
6-26094436-C-G | c.1029C>G | p.V343= | Synonymous | 6/6 | - | 1 |
6-26094436-C-T | c.1029C>T | p.V343= | Synonymous | 6/6 | - | 1 |
6-26094446-C-T | c.1039C>T | p.R347C | Missense | 6/6 | - | 1 |
6-26094447-G-A | c.1040G>A | p.R347H | Missense | 6/6 | - | 2 |
6-26094450-A-G | c.1043A>G | p.E348G | Missense | 6/6 | - | 4 |
6-26094451-G-A | c.1044G>A | p.E348= | Synonymous | 6/6 | - | 2 |
6-26094457-C-A | c.*3C>A | - | 3-UTRSNV | 6/6 | - | 1 |
6-26094457-C-T | c.*3C>T | - | 3-UTRSNV | 6/6 | - | 1 |
6-26094575-G-A | c.*121G>A | - | 3-UTRSNV | 6/6 | - | 1 |
6-26094750-A-T | c.*296A>T | - | 3-UTRSNV | 6/6 | - | 1 |
6-26095028-A-G | c.*574A>G | - | 3-UTRSNV | 6/6 | - | 2 |
6-26095643-G-A | c.*1189G>A | - | IntergenicSNV | 6/6 | - | 2 |
6-26095736-T-A | c.*1282T>A | - | IntergenicSNV | 6/6 | - | 1 |
6-26095744-T-A | c.*1290T>A | - | IntergenicSNV | 6/6 | - | 2 |
6-26095931-G-A | c.*1477G>A | - | IntergenicSNV | 6/6 | - | 7 |
6-26095931-G-T | c.*1477G>T | - | IntergenicSNV | 6/6 | - | 7 |
6-26096748-G-C | c.*2294G>C | - | IntergenicSNV | 6/6 | - | 8 |
6-26097046-T-C | c.*2592T>C | - | IntergenicSNV | 6/6 | - | 2 |
6-26097194-G-A | c.*2740G>A | - | IntergenicSNV | 6/6 | - | 6 |
6-26097384-T-C | c.*2930T>C | - | IntergenicSNV | 6/6 | - | 8 |
6-26098474-T-C | c.*4020T>C | - | IntergenicSNV | 6/6 | - | 3 |