Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
8-18067711-G-A | c.-86+22G>A | - | intron_variant | - | 1/2 | 1 |
8-18067876-C-T | c.-86+187C>T | - | intron_variant | - | 1/2 | 1 |
8-18068074-A-G | c.-86+385A>G | - | intron_variant | - | 1/2 | 8 |
8-18068074-A-T | c.-86+385A>T | - | intron_variant | - | 1/2 | 8 |
8-18068106-C-T | c.-86+417C>T | - | intron_variant | - | 1/2 | 1 |
8-18068176-G-A | c.-86+487G>A | - | intron_variant | - | 1/2 | 2 |
8-18068176-G-C | c.-86+487G>C | - | intron_variant | - | 1/2 | 2 |
8-18068215-C-T | c.-86+526C>T | - | intron_variant | - | 1/2 | 1 |
8-18068245-T-C | c.-86+556T>C | - | intron_variant | - | 1/2 | 2 |
8-18068282-A-G | c.-86+593A>G | - | intron_variant | - | 1/2 | 1 |
8-18068359-G-C | c.-86+670G>C | - | intron_variant | - | 1/2 | 2 |
8-18068430-C-A | c.-86+741C>A | - | intron_variant | - | 1/2 | 2 |
8-18068430-C-G | c.-86+741C>G | - | intron_variant | - | 1/2 | 2 |
8-18068439-A-G | c.-86+750A>G | - | intron_variant | - | 1/2 | 1 |
8-18068500-G-A | c.-86+811G>A | - | intron_variant | - | 1/2 | 1 |
8-18068682-T-A | c.-86+993T>A | - | intron_variant | - | 1/2 | 2 |
8-18068701-G-A | c.-86+1012G>A | - | intron_variant | - | 1/2 | 1 |
8-18068701-G-C | c.-86+1012G>C | - | intron_variant | - | 1/2 | 1 |
8-18068835-T-C | c.-86+1146T>C | - | intron_variant | - | 1/2 | 7 |
8-18069164-T-C | c.-86+1475T>C | - | intron_variant | - | 1/2 | 4 |
8-18069514-C-A | c.-86+1825C>A | - | intron_variant | - | 1/2 | 2 |
8-18070672-C-T | c.-86+2983C>T | - | intron_variant | - | 1/2 | 1 |
8-18070708-A-C | c.-86+3019A>C | - | intron_variant | - | 1/2 | 1 |
8-18070927-G-A | c.-86+3238G>A | - | intron_variant | - | 1/2 | 3 |
8-18071000-C-G | c.-86+3311C>G | - | intron_variant | - | 1/2 | 5 |
8-18071095-A-G | c.-86+3406A>G | - | intron_variant | - | 1/2 | 4 |
8-18071095-A-T | c.-86+3406A>T | - | intron_variant | - | 1/2 | 4 |
8-18071358-T-C | c.-86+3669T>C | - | intron_variant | - | 1/2 | 1 |
8-18071419-T-C | c.-86+3730T>C | - | intron_variant | - | 1/2 | 1 |
8-18071471-T-C | c.-86+3782T>C | - | intron_variant | - | 1/2 | 1 |
8-18071618-G-A | c.-86+3929G>A | - | intron_variant | - | 1/2 | 1 |
8-18071627-G-A | c.-86+3938G>A | - | intron_variant | - | 1/2 | 1 |
8-18071638-A-G | c.-86+3949A>G | - | intron_variant | - | 1/2 | 1 |
8-18071907-A-C | c.-86+4218A>C | - | intron_variant | - | 1/2 | 9 |
8-18071907-A-G | c.-86+4218A>G | - | intron_variant | - | 1/2 | 9 |
8-18071907-A-T | c.-86+4218A>T | - | intron_variant | - | 1/2 | 9 |
8-18072241-G-A | c.-86+4552G>A | - | intron_variant | - | 1/2 | 1 |
8-18072762-G-A | c.-85-4158G>A | - | intron_variant | - | 1/2 | 1 |
8-18072809-G-C | c.-85-4111G>C | - | intron_variant | - | 1/2 | 2 |
8-18073182-T-C | c.-85-3738T>C | - | intron_variant | - | 1/2 | 4 |
8-18073690-T-G | c.-85-3230T>G | - | intron_variant | - | 1/2 | 1 |
8-18073876-A-G | c.-85-3044A>G | - | intron_variant | - | 1/2 | 1 |
8-18073942-A-G | c.-85-2978A>G | - | intron_variant | - | 1/2 | 5 |
8-18074001-T-C | c.-85-2919T>C | - | intron_variant | - | 1/2 | 1 |
8-18074243-A-C | c.-85-2677A>C | - | intron_variant | - | 1/2 | 2 |
8-18074243-A-T | c.-85-2677A>T | - | intron_variant | - | 1/2 | 2 |
8-18074261-G-A | c.-85-2659G>A | - | intron_variant | - | 1/2 | 3 |
8-18074322-A-G | c.-85-2598A>G | - | intron_variant | - | 1/2 | 3 |
8-18074322-A-T | c.-85-2598A>T | - | intron_variant | - | 1/2 | 3 |
8-18074388-G-A | c.-85-2532G>A | - | intron_variant | - | 1/2 | 2 |
8-18074388-G-T | c.-85-2532G>T | - | intron_variant | - | 1/2 | 2 |
8-18074492-C-T | c.-85-2428C>T | - | intron_variant | - | 1/2 | 1 |
8-18074536-G-A | c.-85-2384G>A | - | intron_variant | - | 1/2 | 6 |
8-18074536-G-C | c.-85-2384G>C | - | intron_variant | - | 1/2 | 6 |
8-18075168-C-T | c.-85-1752C>T | - | intron_variant | - | 1/2 | 1 |
8-18072846-G-A | c.-85-4074G>A | - | IntronicSNV | - | 1/2 | 1 |
8-18072846-G-T | c.-85-4074G>T | - | IntronicSNV | - | 1/2 | 1 |
8-18075398-G-A | c.-85-4074G>A | - | IntronicSNV | - | 1/2 | 1 |
8-18075398-G-T | c.-85-4074G>T | - | IntronicSNV | - | 1/2 | 1 |
8-18075423-C-G | c.-85-1497C>G | - | intron_variant | - | 1/2 | 1 |
8-18075423-C-T | c.-85-1497C>T | - | intron_variant | - | 1/2 | 1 |
8-18075424-T-C | c.-85-1496T>C | - | intron_variant | - | 1/2 | 1 |
8-18075586-C-T | c.-85-1334C>T | - | intron_variant | - | 1/2 | 1 |
8-18075731-G-A | c.-85-1189G>A | - | intron_variant | - | 1/2 | 1 |
8-18075906-T-A | c.-85-1014T>A | - | intron_variant | - | 1/2 | 5 |
8-18075906-T-G | c.-85-3566T>G | - | IntronicSNV | - | 1/2 | 1 |
8-18075997-G-C | c.-85-923G>C | - | intron_variant | - | 1/2 | 4 |
8-18076155-G-C | c.-85-3317G>C | - | IntronicSNV | - | 1/2 | 1 |
8-18076155-G-T | c.-85-3317G>T | - | IntronicSNV | - | 1/2 | 1 |
8-18076731-T-C | c.-85-189T>C | - | intron_variant | - | 1/2 | 1 |
8-18076751-G-A | c.-85-169G>A | - | intron_variant | - | 1/2 | 1 |
8-18076779-A-G | c.-85-141A>G | - | intron_variant | - | 1/2 | 1 |
8-18076924-C-G | c.-81C>G | - | 5_prime_UTR_variant | 2/3 | - | 1 |
8-18076976-C-T | c.-29C>T | - | 5_prime_UTR_variant | 2/3 | - | 2 |
8-18077007-G-C | c.-7+9G>C | - | intron_variant | - | 2/2 | 10 |
8-18077007-G-T | c.-7+9G>T | - | intron_variant | - | 2/2 | 10 |
8-18077045-T-C | c.-7+47T>C | - | intron_variant | - | 2/2 | 1 |
8-18077168-G-A | c.-7+170G>A | - | intron_variant | - | 2/2 | 1 |
8-18077202-T-G | c.-7+204T>G | - | intron_variant | - | 2/2 | 1 |
8-18077214-G-A | c.-7+216G>A | - | intron_variant | - | 2/2 | 1 |
8-18077310-T-C | c.-7+312T>C | - | intron_variant | - | 2/2 | 10 |
8-18077320-T-C | c.-7+322T>C | - | intron_variant | - | 2/2 | 1 |
8-18077363-A-AAACAG | c.-85-2107_-85-2103dup | - | IntronicInsertion | - | 1/2 | 1 |
8-18077364-A-AACAG | c.-85-2106_-85-2103dup | - | IntronicInsertion | - | 1/2 | 1 |
8-18077499-G-A | c.-7+501G>A | - | intron_variant | - | 2/2 | 1 |
8-18077576-C-A | c.-7+578C>A | - | intron_variant | - | 2/2 | 1 |
8-18077646-A-G | c.-7+648A>G | - | intron_variant | - | 2/2 | 1 |
8-18077646-A-T | c.-7+648A>T | - | intron_variant | - | 2/2 | 1 |
8-18077782-A-G | c.-7+784A>G | - | intron_variant | - | 2/2 | 1 |
8-18077987-A-G | c.-7+989A>G | - | intron_variant | - | 2/2 | 2 |
8-18078009-G-A | c.-7+1011G>A | - | intron_variant | - | 2/2 | 1 |
8-18078171-A-C | c.-7+1173A>C | - | intron_variant | - | 2/2 | 1 |
8-18078257-A-G | c.-7+1259A>G | - | intron_variant | - | 2/2 | 1 |
8-18078357-A-G | c.-6-1194A>G | - | IntronicSNV | - | 2/2 | 1 |
8-18078445-G-A | c.-6-1106G>A | - | IntronicSNV | - | 2/2 | 2 |
8-18078445-G-T | c.-6-1106G>T | - | IntronicSNV | - | 2/2 | 2 |
8-18078509-G-A | c.-6-1042G>A | - | IntronicSNV | - | 2/2 | 1 |
8-18078509-G-C | c.-6-1042G>C | - | IntronicSNV | - | 2/2 | 1 |
8-18078614-C-T | c.-6-937C>T | - | IntronicSNV | - | 2/2 | 1 |
8-18078615-A-G | c.-85-857A>G | - | IntronicSNV | - | 1/2 | 1 |
8-18078628-G-A | c.-6-923G>A | - | IntronicSNV | - | 2/2 | 6 |
8-18078689-G-A | c.-6-862G>A | - | IntronicSNV | - | 2/2 | 2 |
8-18078713-G-A | c.-6-838G>A | - | IntronicSNV | - | 2/2 | 2 |
8-18078731-T-C | c.-6-820T>C | - | IntronicSNV | - | 2/2 | 2 |
8-18078834-T-C | c.-85-638T>C | - | IntronicSNV | - | 1/2 | 1 |
8-18078851-A-G | c.-6-700A>G | - | IntronicSNV | - | 2/2 | 2 |
8-18078851-A-T | c.-6-700A>T | - | IntronicSNV | - | 2/2 | 2 |
8-18078869-C-G | c.-6-682C>G | - | IntronicSNV | - | 2/2 | 2 |
8-18078872-T-C | c.-6-679T>C | - | IntronicSNV | - | 2/2 | 2 |
8-18078889-C-G | c.-85-583C>G | - | IntronicSNV | - | 1/2 | 1 |
8-18078992-A-G | c.-6-559A>G | - | IntronicSNV | - | 2/2 | 1 |
8-18079124-T-C | c.-6-427T>C | - | IntronicSNV | - | 2/2 | 2 |
8-18079213-C-A | c.-6-338C>A | - | IntronicSNV | - | 2/2 | 18 |
8-18079213-C-T | c.-6-338C>T | - | IntronicSNV | - | 2/2 | 18 |
8-18079279-T-A | c.-6-272T>A | - | IntronicSNV | - | 2/2 | 2 |
8-18079384-C-G | c.-85-88C>G | - | IntronicSNV | - | 1/2 | 1 |
8-18079384-C-T | c.-85-88C>T | - | IntronicSNV | - | 1/2 | 1 |
8-18079406-A-G | c.-85-66A>G | - | IntronicSNV | - | 1/2 | 2 |
8-18067697-G-A | c.-86+8G>A | - | IntronicSNV | - | 1/2 | 1 |
8-18067697-G-C | c.-86+8G>C | - | IntronicSNV | - | 1/2 | 1 |
8-18079517-A-T | c.-6-34A>T | - | IntronicSNV | - | 2/2 | 15 |
8-18079521-A-T | c.-6-30A>T | - | IntronicSNV | - | 2/2 | 3 |
8-18079550-G-A | c.-7G>A | - | IntronicSNV | 2/3 | - | 2 |
8-18079550-G-T | c.-7G>T | - | IntronicSNV | 2/3 | - | 2 |
8-18079570-C-A | c.14C>A | p.A5E | Missense | 3/3 | - | 1 |
8-18079571-A-G | c.15A>G | p.A5= | Synonymous | 3/3 | - | 1 |
8-18079577-T-A | c.21T>A | p.L7= | Synonymous | 3/3 | - | 1 |
8-18079577-T-C | c.21T>C | p.L7= | Synonymous | 3/3 | - | 1 |
8-18079577-T-G | c.21T>G | p.L7= | Synonymous | 3/3 | - | 10 |
8-18079581-AG-CA | c.25_26delinsCA | p.R9Q | Missense | 3/3 | - | 1 |
8-18079582-G-A | c.26G>A | p.R9K | Missense | 3/3 | - | 1 |
8-18079586-T-A | c.30T>A | p.I10= | Synonymous | 3/3 | - | 1 |
8-18079586-T-C | c.30T>C | p.I10= | Synonymous | 3/3 | - | 1 |
8-18079591-A-G | c.35A>G | p.Y12C | Missense | 3/3 | - | 1 |
8-18079599-TC-CA | c.43_44delinsCA | p.S15H | Missense | 3/3 | - | 1 |
8-18079599-T-G | c.43T>G | p.S15A | Missense | 3/3 | - | 2 |
8-18079606-A-G | c.50A>G | p.N17S | Missense | 3/3 | - | 1 |
8-18079607-C-T | c.51C>T | p.N17= | Synonymous | 3/3 | - | 1 |
8-18079614-G-A | c.58G>A | p.D20N | Missense | 3/3 | - | 3 |
8-18079614-GA-TG | c.58_59delinsTG | p.D20C | Missense | 3/3 | - | 1 |
8-18079621-A-G | c.65A>G | p.E22G | Missense | 3/3 | - | 1 |
8-18079638-C-T | c.82C>T | p.L28F | Missense | 3/3 | - | 1 |
8-18079646-C-T | c.90C>T | p.H30= | Synonymous | 3/3 | - | 1 |
8-18079648-A-C | c.92A>C | p.Q31P | Missense | 3/3 | - | 1 |
8-18079648-A-G | c.92A>G | p.Q31R | Missense | 3/3 | - | 1 |
8-18079652-C-T | c.96C>T | p.I32= | Synonymous | 3/3 | - | 1 |
8-18079653-C-T | c.97C>T | p.R33* | Nonsense | 3/3 | - | 13 |
8-18079656-G-A | c.100G>A | p.A34T | Missense | 3/3 | - | 1 |
8-18079657-C-G | c.101C>G | p.A34G | Missense | 3/3 | - | 1 |
8-18079659-G-A | c.103G>A | p.V35I | Missense | 3/3 | - | 1 |
8-18079662-C-G | c.106C>G | p.P36A | Missense | 3/3 | - | 1 |
8-18079662-C-T | c.106C>T | p.P36S | Missense | 3/3 | - | 3 |
8-18079666-T-G | c.110T>G | p.F37C | Missense | 3/3 | - | 1 |
8-18079684-A-C | c.128A>C | p.H43P | Missense | 3/3 | - | 1 |
8-18079695-GC-TT | c.139_140delinsTT | p.A47F | Missense | 3/3 | - | 1 |
8-18079696-C-G | c.140C>G | p.A47G | Missense | 3/3 | - | 1 |
8-18079708-G-C | c.152G>C | p.G51A | Missense | 3/3 | - | 1 |
8-18079708-G-T | c.152G>T | p.G51V | Missense | 3/3 | - | 1 |
8-18079713-GAG-TGT | c.157_159delinsTGT | p.E53C | Missense | 3/3 | - | 1 |
8-18079720-T-C | c.164T>C | p.I55T | Missense | 3/3 | - | 1 |
8-18079725-G-T | c.169G>T | p.D57Y | Missense | 3/3 | - | 3 |
8-18079731-G-A | c.175G>A | p.V59I | Missense | 3/3 | - | 1 |
8-18079731-G-C | c.175G>C | p.V59L | Missense | 3/3 | - | 1 |
8-18079746-CG-TA | c.190_191delinsTA | p.R64* | Nonsense | 3/3 | - | 1 |
8-18079746-C-T | c.190C>T | p.R64W | Missense | 3/3 | - | 41 |
8-18079747-G-A | c.191G>A | p.R64Q | Missense | 3/3 | - | 8 |
8-18079748-G-A | c.192G>A | p.R64= | Synonymous | 3/3 | - | 1 |
8-18079750-G-A | c.194G>A | p.G65D | Missense | 3/3 | - | 1 |
8-18079752-G-A | c.196G>A | p.G66R | Missense | 3/3 | - | 1 |
8-18079753-G-A | c.197G>A | p.G66E | Missense | 3/3 | - | 1 |
8-18079757-G-A | c.201G>A | p.W67* | Nonsense | 3/3 | - | 1 |
8-18079757-G-C | c.201G>C | p.W67C | Missense | 3/3 | - | 2 |
8-18079757-G-T | c.201G>T | p.W67C | Missense | 3/3 | - | 1 |
8-18079766-G-T | c.210G>T | p.Q70H | Missense | 3/3 | - | 1 |
8-18079770-A-G | c.214A>G | p.N72D | Missense | 3/3 | - | 1 |
8-18079775-T-A | c.219T>A | p.H73Q | Missense | 3/3 | - | 1 |
8-18079775-T-G | c.219T>G | p.H73Q | Missense | 3/3 | - | 1 |
8-18079795-C-T | c.239C>T | p.T80I | Missense | 3/3 | - | 1 |
8-18079796-C-T | c.240C>T | p.T80= | Synonymous | 3/3 | - | 3 |
8-18079800-A-G | c.244A>G | p.I82V | Missense | 3/3 | - | 2 |
8-18079804-G-A | c.248G>A | p.G83D | Missense | 3/3 | - | 1 |
8-18079810-A-T | c.254A>T | p.E85V | Missense | 3/3 | - | 1 |
8-18079816-C-T | c.260C>T | p.T87M | Missense | 3/3 | - | 2 |
8-18079823-G-C | c.267G>C | p.L89F | Missense | 3/3 | - | 1 |
8-18079832-T-C | c.276T>C | p.Y92= | Synonymous | 3/3 | - | 1 |
8-18079839-AG-GC | c.283_284delinsGC | p.S95A | Missense | 3/3 | - | 1 |
8-18079839-AG-TA | c.283_284delinsTA | p.S95Y | Missense | 3/3 | - | 1 |
8-18079848-GC-AT | c.292_293delinsAT | p.A98I | Missense | 3/3 | - | 1 |
8-18079848-GC-CA | c.292_293delinsCA | p.A98H | Missense | 3/3 | - | 1 |
8-18079849-CC-AG | c.293_294delinsAG | p.A98E | Missense | 3/3 | - | 1 |
8-18079849-C-G | c.293C>G | p.A98G | Missense | 3/3 | - | 1 |
8-18079850-C-CA | c.300dup | p.Y101Ifs*15 | Frameshift | 3/3 | - | 3 |
8-18079861-G-A | c.305G>A | p.S102N | Missense | 3/3 | - | 1 |
8-18079863-A-G | c.307A>G | p.T103A | Missense | 3/3 | - | 1 |
8-18079866-G-T | c.310G>T | p.G104C | Missense | 3/3 | - | 1 |
8-18079875-CA-GC | c.319_320delinsGC | p.H107A | Missense | 3/3 | - | 1 |
8-18079877-C-T | c.321C>T | p.H107= | Synonymous | 3/3 | - | 1 |
8-18079879-T-A | c.323T>A | p.L108H | Missense | 3/3 | - | 1 |
8-18079883-C-A | c.327C>A | p.L109= | Synonymous | 3/3 | - | 2 |
8-18079883-C-G | c.327C>G | p.L109= | Synonymous | 3/3 | - | 2 |
8-18079883-C-T | c.327C>T | p.L109= | Synonymous | 3/3 | - | 2 |
8-18079888-A-G | c.332A>G | p.Q111R | Missense | 3/3 | - | 1 |
8-18079891-T-A | c.335T>A | p.V112E | Missense | 3/3 | - | 1 |
8-18079892-G-A | c.336G>A | p.V112= | Synonymous | 3/3 | - | 1 |
8-18079892-G-C | c.336G>C | p.V112= | Synonymous | 3/3 | - | 1 |
8-18079892-G-T | c.336G>T | p.V112= | Synonymous | 3/3 | - | 2 |
8-18079897-T-A | c.341T>A | p.I114N | Missense | 3/3 | - | 1 |
8-18079897-T-C | c.341T>C | p.I114T | Missense | 3/3 | - | 1 |
8-18079898-T-TG | c.343dup | p.D115Gfs*59 | Frameshift | 3/3 | - | 1 |
8-18079899-G-T | c.343G>T | p.D115Y | Missense | 3/3 | - | 1 |
8-18079900-A-G | c.344A>G | p.D115G | Missense | 3/3 | - | 1 |
8-18079902-G-T | c.346G>T | p.G116C | Missense | 3/3 | - | 1 |
8-18079906-G-C | c.350G>C | p.R117T | Missense | 3/3 | - | 5 |
8-18079910-C-T | c.354C>T | p.N118= | Synonymous | 3/3 | - | 1 |
8-18079911-T-TG | c.355_356insG | p.Y119* | Nonsense | 3/3 | - | 1 |
8-18079917-G-A | c.361G>A | p.V121I | Missense | 3/3 | - | 2 |
8-18079919-C-A | c.363C>A | p.V121= | Synonymous | 3/3 | - | 3 |
8-18079919-C-G | c.363C>G | p.V121= | Synonymous | 3/3 | - | 3 |
8-18079919-C-T | c.363C>T | p.V121= | Synonymous | 3/3 | - | 8 |
8-18079920-G-T | c.364G>T | p.D122Y | Missense | 3/3 | - | 1 |
8-18079923-GCT-ATG | c.367_369delinsATG | p.A123M | Missense | 3/3 | - | 1 |
8-18079924-C-A | c.368C>A | p.A123D | Missense | 3/3 | - | 4 |
8-18079930-T-C | c.374T>C | p.F125S | Missense | 3/3 | - | 5 |
8-18079932-GGA-TGT | c.376_378delinsTGT | p.G126C | Missense | 3/3 | - | 1 |
8-18079933-G-A | c.377G>A | p.G126E | Missense | 3/3 | - | 1 |
8-18079935-C-G | c.379C>G | p.R127G | Missense | 3/3 | - | 1 |
8-18079935-C-T | c.379C>T | p.R127C | Missense | 3/3 | - | 1 |
8-18079936-G-T | c.380G>T | p.R127L | Missense | 3/3 | - | 1 |
8-18079946-G-A | c.390G>A | p.Q130= | Synonymous | 3/3 | - | 1 |
8-18079946-G-C | c.390G>C | p.Q130H | Missense | 3/3 | - | 1 |
8-18079950-T-C | c.394T>C | p.W132R | Missense | 3/3 | - | 1 |
8-18079956-C-T | c.400C>T | p.P134S | Missense | 3/3 | - | 3 |
8-18079958-T-A | c.402T>A | p.P134= | Synonymous | 3/3 | - | 1 |
8-18079958-T-C | c.402T>C | p.P134= | Synonymous | 3/3 | - | 3 |
8-18079958-T-G | c.402T>G | p.P134= | Synonymous | 3/3 | - | 1 |
8-18079964-G-A | c.408G>A | p.E136= | Synonymous | 3/3 | - | 1 |
8-18079975-G-A | c.419G>A | p.G140E | Missense | 3/3 | - | 5 |
8-18079979-G-C | c.423G>C | p.K141N | Missense | 3/3 | - | 1 |
8-18079981-A-G | c.425A>G | p.D142G | Missense | 3/3 | - | 2 |
8-18079989-C-T | c.433C>T | p.Q145* | Nonsense | 3/3 | - | 1 |
8-18079990-A-T | c.434A>T | p.Q145L | Missense | 3/3 | - | 1 |
8-18079992-G-C | c.436G>C | p.V146L | Missense | 3/3 | - | 1 |
8-18079992-G-T | c.436G>T | p.V146L | Missense | 3/3 | - | 1 |
8-18080000-T-A | c.444T>A | p.C148* | Nonsense | 3/3 | - | 1 |
8-18080001-G-A | c.445G>A | p.V149I | Missense | 3/3 | - | 56 |
8-18080001-G-C | c.445G>C | p.V149L | Missense | 3/3 | - | 23 |
8-18080006-C-T | c.450C>T | p.F150= | Synonymous | 3/3 | - | 1 |
8-18080008-G-A | c.452G>A | p.R151H | Missense | 3/3 | - | 1 |
8-18080008-G-C | c.452G>C | p.R151P | Missense | 3/3 | - | 1 |
8-18080012-G-C | c.456G>C | p.L152F | Missense | 3/3 | - | 2 |
8-18080012-G-T | c.456G>T | p.L152F | Missense | 3/3 | - | 2 |
8-18080014-C-T | c.458C>T | p.T153M | Missense | 3/3 | - | 1 |
8-18080015-G-A | c.459G>A | p.T153= | Synonymous | 3/3 | - | 24 |
8-18080015-G-C | c.459G>C | p.T153= | Synonymous | 3/3 | - | 4 |
8-18080015-G-T | c.459G>T | p.T153= | Synonymous | 3/3 | - | 4 |
8-18080016-G-T | c.460G>T | p.E154* | Nonsense | 3/3 | - | 1 |
8-18080019-G-C | c.463G>C | p.E155Q | Missense | 3/3 | - | 2 |
8-18080021-G-C | c.465G>C | p.E155D | Missense | 3/3 | - | 1 |
8-18080021-G-T | c.465G>T | p.E155D | Missense | 3/3 | - | 1 |
8-18080025-G-A | c.469G>A | p.G157R | Missense | 3/3 | - | 3 |
8-18080025-G-C | c.469G>C | p.G157R | Missense | 3/3 | - | 2 |
8-18080031-T-A | c.475T>A | p.W159R | Missense | 3/3 | - | 2 |
8-18080031-T-C | c.475T>C | p.W159R | Missense | 3/3 | - | 3 |
8-18080033-G-C | c.477G>C | p.W159C | Missense | 3/3 | - | 1 |
8-18080033-G-T | c.477G>T | p.W159C | Missense | 3/3 | - | 1 |
8-18080037-C-G | c.481C>G | p.L161V | Missense | 3/3 | - | 1 |
8-18080038-T-C | c.482T>C | p.L161P | Missense | 3/3 | - | 1 |
8-18080042-C-A | c.486C>A | p.D162E | Missense | 3/3 | - | 1 |
8-18080042-C-G | c.486C>G | p.D162E | Missense | 3/3 | - | 1 |
8-18080043-C-T | c.487C>T | p.Q163* | Nonsense | 3/3 | - | 1 |
8-18080046-A-C | c.490A>C | p.I164L | Missense | 3/3 | - | 1 |
8-18080055-G-C | c.499G>C | p.E167Q | Missense | 3/3 | - | 1 |
8-18080059-A-C | c.503A>C | p.Q168P | Missense | 3/3 | - | 2 |
8-18080059-A-G | c.503A>G | p.Q168R | Missense | 3/3 | - | 1 |
8-18080060-G-T | c.504G>T | p.Q168H | Missense | 3/3 | - | 1 |
8-18080061-T-A | c.505T>A | p.Y169N | Missense | 3/3 | - | 2 |
8-18080076-G-A | c.520G>A | p.E174K | Missense | 3/3 | - | 1 |
8-18080076-G-T | c.520G>T | p.E174* | Nonsense | 3/3 | - | 2 |
8-18080079-T-C | c.523T>C | p.F175L | Missense | 3/3 | - | 1 |
8-18080082-C-A | c.526C>A | p.L176I | Missense | 3/3 | - | 1 |
8-18080083-T-C | c.527T>C | p.L176P | Missense | 3/3 | - | 1 |
8-18080085-C-T | c.529C>T | p.H177Y | Missense | 3/3 | - | 3 |
8-18080093-T-C | c.537T>C | p.D179= | Synonymous | 3/3 | - | 1 |
8-18080096-C-T | c.540C>T | p.L180= | Synonymous | 3/3 | - | 1 |
8-18080099-A-G | c.543A>G | p.L181= | Synonymous | 3/3 | - | 1 |
8-18080100-G-T | c.544G>T | p.E182* | Nonsense | 3/3 | - | 1 |
8-18080111-A-G | c.555A>G | p.K185= | Synonymous | 3/3 | - | 1 |
8-18080113-A-T | c.557A>T | p.Y186F | Missense | 3/3 | - | 1 |
8-18080115-C-T | c.559C>T | p.R187* | Nonsense | 3/3 | - | 35 |
8-18080116-G-A | c.560G>A | p.R187Q | Missense | 3/3 | - | 52 |
8-18080120-A-G | c.564A>G | p.K188= | Synonymous | 3/3 | - | 1 |
8-18080120-A-T | c.564A>T | p.K188N | Missense | 3/3 | - | 1 |
8-18080123-C-A | c.567C>A | p.I189= | Synonymous | 3/3 | - | 1 |
8-18080123-C-G | c.567C>G | p.I189M | Missense | 3/3 | - | 1 |
8-18080124-T-A | c.568T>A | p.Y190N | Missense | 3/3 | - | 1 |
8-18080124-T-C | c.568T>C | p.Y190H | Missense | 3/3 | - | 4 |
8-18080126-C-T | c.570C>T | p.Y190= | Synonymous | 3/3 | - | 1 |
8-18080128-C-G | c.572C>G | p.S191C | Missense | 3/3 | - | 1 |
8-18080128-C-T | c.572C>T | p.S191F | Missense | 3/3 | - | 3 |
8-18080129-C-A | c.573C>A | p.S191= | Synonymous | 3/3 | - | 2 |
8-18080129-C-G | c.573C>G | p.S191= | Synonymous | 3/3 | - | 2 |
8-18080129-C-T | c.573C>T | p.S191= | Synonymous | 3/3 | - | 2 |
8-18080134-C-T | c.578C>T | p.T193I | Missense | 3/3 | - | 1 |
8-18080136-C-G | c.580C>G | p.L194V | Missense | 3/3 | - | 1 |
8-18080142-C-T | c.586C>T | p.P196S | Missense | 3/3 | - | 1 |
8-18080145-C-G | c.589C>G | p.R197G | Missense | 3/3 | - | 1 |
8-18080156-A-C | c.600A>C | p.E200D | Missense | 3/3 | - | 1 |
8-18080156-A-T | c.600A>T | p.E200D | Missense | 3/3 | - | 1 |
8-18080167-C-T | c.611C>T | p.S204F | Missense | 3/3 | - | 1 |
8-18080169-A-G | c.613A>G | p.M205V | Missense | 3/3 | - | 7 |
8-18080171-G-T | c.615G>T | p.M205I | Missense | 3/3 | - | 1 |
8-18080175-A-C | c.619A>C | p.T207P | Missense | 3/3 | - | 1 |
8-18080176-C-A | c.620C>A | p.T207K | Missense | 3/3 | - | 3 |
8-18080176-C-T | c.620C>T | p.T207I | Missense | 3/3 | - | 9 |
8-18080179-A-G | c.623A>G | p.Y208C | Missense | 3/3 | - | 1 |
8-18080181-C-A | c.625C>A | p.L209M | Missense | 3/3 | - | 1 |
8-18080184-C-G | c.628C>G | p.Q210E | Missense | 3/3 | - | 3 |
8-18080186-G-C | c.630G>C | p.Q210H | Missense | 3/3 | - | 1 |
8-18080186-G-T | c.630G>T | p.Q210H | Missense | 3/3 | - | 1 |
8-18080196-T-G | c.640T>G | p.S214A | Missense | 3/3 | - | 39 |
8-18080198-A-C | c.642A>C | p.S214= | Synonymous | 3/3 | - | 1 |
8-18080198-A-G | c.642A>G | p.S214= | Synonymous | 3/3 | - | 1 |
8-18080198-A-T | c.642A>T | p.S214= | Synonymous | 3/3 | - | 1 |
8-18080202-G-A | c.646G>A | p.V216M | Missense | 3/3 | - | 3 |
8-18080209-C-A | c.653C>A | p.T218N | Missense | 3/3 | - | 1 |
8-18080215-A-T | c.659A>T | p.K220I | Missense | 3/3 | - | 1 |
8-18080218-C-T | c.662C>T | p.S221L | Missense | 3/3 | - | 3 |
8-18080227-C-T | c.671C>T | p.S224F | Missense | 3/3 | - | 1 |
8-18080228-C-A | c.672C>A | p.S224= | Synonymous | 3/3 | - | 1 |
8-18080228-C-G | c.672C>G | p.S224= | Synonymous | 3/3 | - | 2 |
8-18080228-C-T | c.672C>T | p.S224= | Synonymous | 3/3 | - | 2 |
8-18080241-G-A | c.685G>A | p.D229N | Missense | 3/3 | - | 1 |
8-18080241-G-C | c.685G>C | p.D229H | Missense | 3/3 | - | 1 |
8-18080246-G-T | c.690G>T | p.G230= | Synonymous | 3/3 | - | 1 |
8-18080250-C-T | c.694C>T | p.H232Y | Missense | 3/3 | - | 3 |
8-18080256-TT-AA | c.700_701inv | p.L234K | Missense | 3/3 | - | 1 |
8-18080256-TT-GC | c.700_701delinsGC | p.L234A | Missense | 3/3 | - | 1 |
8-18080256-TTG-GAC | c.700_702delinsGAC | p.L234D | Missense | 3/3 | - | 1 |
8-18080265-T-A | c.709T>A | p.F237I | Missense | 3/3 | - | 1 |
8-18080269-CC-GG | c.713_714inv | p.T238R | Missense | 3/3 | - | 1 |
8-18080271-C-T | c.715C>T | p.L239F | Missense | 3/3 | - | 2 |
8-18080271-CT-AG | c.715_716inv | p.L239S | Missense | 3/3 | - | 1 |
8-18080272-T-G | c.716T>G | p.L239R | Missense | 3/3 | - | 1 |
8-18080279-T-A | c.723T>A | p.H241Q | Missense | 3/3 | - | 1 |
8-18080279-T-G | c.723T>G | p.H241Q | Missense | 3/3 | - | 1 |
8-18080283-AGA-CAT | c.727_729delinsCAT | p.R243H | Missense | 3/3 | - | 1 |
8-18080283-AG-GC | c.727_728delinsGC | p.R243A | Missense | 3/3 | - | 1 |
8-18080284-G-A | c.728G>A | p.R243K | Missense | 3/3 | - | 1 |
8-18080296-A-G | c.740A>G | p.K247R | Missense | 3/3 | - | 3 |
8-18080297-G-A | c.741G>A | p.K247= | Synonymous | 3/3 | - | 1 |
8-18080299-A-G | c.743A>G | p.D248G | Missense | 3/3 | - | 1 |
8-18080301-A-G | c.745A>G | p.N249D | Missense | 3/3 | - | 1 |
8-18080307-G-C | c.751G>C | p.D251H | Missense | 3/3 | - | 1 |
8-18080308-A-T | c.752A>T | p.D251V | Missense | 3/3 | - | 41 |
8-18080312-A-T | c.756A>T | p.L252= | Synonymous | 3/3 | - | 2 |
8-18080322-A-C | c.766A>C | p.K256Q | Missense | 3/3 | - | 1 |
8-18080324-G-A | c.768G>A | p.K256= | Synonymous | 3/3 | - | 1 |
8-18080327-T-A | c.771T>A | p.T257= | Synonymous | 3/3 | - | 1 |
8-18080327-T-C | c.771T>C | p.T257= | Synonymous | 3/3 | - | 3 |
8-18080327-T-G | c.771T>G | p.T257= | Synonymous | 3/3 | - | 1 |
8-18080331-A-C | c.775A>C | p.S259R | Missense | 3/3 | - | 1 |
8-18080333-T-A | c.777T>A | p.S259R | Missense | 3/3 | - | 1 |
8-18080333-T-C | c.777T>C | p.S259= | Synonymous | 3/3 | - | 11 |
8-18080333-T-G | c.777T>G | p.S259R | Missense | 3/3 | - | 7 |
8-18080337-G-A | c.781G>A | p.E261K | Missense | 3/3 | - | 9 |
8-18080338-A-T | c.782A>T | p.E261V | Missense | 3/3 | - | 1 |
8-18080340-G-T | c.784G>T | p.E262* | Nonsense | 3/3 | - | 1 |
8-18080343-A-G | c.787A>G | p.I263V | Missense | 3/3 | - | 7 |
8-18080346-G-A | c.790G>A | p.E264K | Missense | 3/3 | - | 1 |
8-18080346-G-C | c.790G>C | p.E264Q | Missense | 3/3 | - | 1 |
8-18080347-A-C | c.791A>C | p.E264A | Missense | 3/3 | - | 1 |
8-18080348-A-C | c.792A>C | p.E264D | Missense | 3/3 | - | 1 |
8-18080348-A-T | c.792A>T | p.E264D | Missense | 3/3 | - | 1 |
8-18080349-A-T | c.793A>T | p.K265* | Nonsense | 3/3 | - | 1 |
8-18080352-G-A | c.796G>A | p.V266M | Missense | 3/3 | - | 1 |
8-18080352-GTG-ATC | c.796_798delinsATC | p.V266I | Missense | 3/3 | - | 1 |
8-18080358-A-C | c.802A>C | p.K268Q | Missense | 3/3 | - | 1 |
8-18080359-A-G | c.803A>G | p.K268R | Missense | 3/3 | - | 32 |
8-18080360-A-G | c.804A>G | p.K268= | Synonymous | 3/3 | - | 1 |
8-18080373-A-T | c.817A>T | p.I273F | Missense | 3/3 | - | 1 |
8-18080374-T-G | c.818T>G | p.I273S | Missense | 3/3 | - | 1 |
8-18080377-C-T | c.821C>T | p.S274F | Missense | 3/3 | - | 7 |
8-18080384-G-C | c.828G>C | p.Q276H | Missense | 3/3 | - | 1 |
8-18080384-G-T | c.828G>T | p.Q276H | Missense | 3/3 | - | 1 |
8-18080390-G-T | c.834G>T | p.K278N | Missense | 3/3 | - | 1 |
8-18080392-T-G | c.836T>G | p.L279R | Missense | 3/3 | - | 1 |
8-18080394-G-C | c.838G>C | p.V280L | Missense | 3/3 | - | 2 |
8-18080399-C-A | c.843C>A | p.P281= | Synonymous | 3/3 | - | 1 |
8-18080406-G-C | c.850G>C | p.G284R | Missense | 3/3 | - | 1 |
8-18080409-G-T | c.853G>T | p.D285Y | Missense | 3/3 | - | 1 |
8-18080414-A-AT | c.864dup | p.T289Yfs*5 | Frameshift | 3/3 | - | 1 |
8-18080420-T-C | c.864T>C | p.F288= | Synonymous | 3/3 | - | 3 |
8-18080421-A-G | c.865A>G | p.T289A | Missense | 3/3 | - | 1 |
8-18080440-A-C | c.*11A>C | - | 3-UTRSNV | 3/3 | - | 9 |
8-18080440-A-G | c.*11A>G | - | 3-UTRSNV | 3/3 | - | 9 |
8-18080440-A-T | c.*11A>T | - | 3-UTRSNV | 3/3 | - | 9 |
8-18080487-C-G | c.*58C>G | - | 3-UTRSNV | 3/3 | - | 4 |
8-18080487-C-T | c.*58C>T | - | 3-UTRSNV | 3/3 | - | 4 |
8-18080644-A-T | c.*215A>T | - | 3-UTRSNV | 3/3 | - | 38 |
8-18080651-A-C | c.*222A>C | - | 3-UTRSNV | 3/3 | - | 45 |
8-18080747-T-G | c.*318T>G | - | 3-UTRSNV | 3/3 | - | 17 |
8-18080792-A-G | c.*363A>G | - | 3-UTRSNV | 3/3 | - | 1 |
8-18080833-A-G | c.*404A>G | - | 3-UTRSNV | 3/3 | - | 4 |
8-18080901-C-G | c.*472C>G | - | 3-UTRSNV | 3/3 | - | 5 |
8-18080923-G-A | c.*494G>A | - | 3-UTRSNV | 3/3 | - | 4 |
8-18080933-C-T | c.*504C>T | - | 3-UTRSNV | 3/3 | - | 6 |
8-18081010-C-T | c.*581C>T | - | 3-UTRSNV | 3/3 | - | 1 |
8-18081198-A-C | c.*769A>C | - | 3-UTRSNV | 3/3 | - | 1 |
8-18081198-A-G | c.*769A>G | - | 3-UTRSNV | 3/3 | - | 1 |