Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
2-98330052-C-A | c.-186C>A | - | 5_prime_UTR_variant | 1/14 | - | 6 |
2-98330052-C-G | c.-186C>G | - | 5_prime_UTR_variant | 1/14 | - | 6 |
2-98330218-A-G | c.-101+81A>G | - | intron_variant | - | 1/13 | 1 |
2-98331521-G-C | c.-22+1064G>C | - | intron_variant | - | 2/13 | 2 |
2-98331521-G-T | c.-22+1064G>T | - | intron_variant | - | 2/13 | 2 |
2-98332858-G-A | c.-22+2401G>A | - | intron_variant | - | 2/13 | 1 |
2-98333290-T-C | c.-22+2833T>C | - | intron_variant | - | 2/13 | 1 |
2-98336017-G-A | c.-21-4462G>A | - | IntronicSNV | - | 2/13 | 1 |
2-98336017-G-C | c.-21-4462G>C | - | IntronicSNV | - | 2/13 | 1 |
2-98336017-G-T | c.-21-4462G>T | - | IntronicSNV | - | 2/13 | 1 |
2-98336200-A-C | c.-21-4279A>C | - | IntronicSNV | - | 2/13 | 1 |
2-98336352-C-A | c.-21-4127C>A | - | IntronicSNV | - | 2/13 | 5 |
2-98336352-C-T | c.-21-4127C>T | - | IntronicSNV | - | 2/13 | 5 |
2-98340154-G-C | c.-21-325G>C | - | IntronicSNV | - | 2/13 | 1 |
2-98340364-A-C | c.-21-115A>C | - | IntronicSNV | - | 2/13 | 2 |
2-98340403-C-T | c.-97C>T | - | IntronicSNV | 2/14 | - | 1 |
2-98340482-T-G | c.-18T>G | - | 5-UTRSNV | 3/14 | - | 1 |
2-98340500-GA-G | c.1del | p.M1? | CdsStartDeletion | 3/14 | - | 1 |
2-98340504-C-G | c.5C>G | p.P2R | Missense | 3/14 | - | 1 |
2-98340505-A-C | c.6A>C | p.P2= | Synonymous | 3/14 | - | 1 |
2-98340505-A-G | c.6A>G | p.P2= | Synonymous | 3/14 | - | 1 |
2-98340505-A-T | c.6A>T | p.P2= | Synonymous | 3/14 | - | 1 |
2-98340506-G-C | c.7G>C | p.D3H | Missense | 3/14 | - | 1 |
2-98340508-C-A | c.9C>A | p.D3E | Missense | 3/14 | - | 2 |
2-98340508-C-G | c.9C>G | p.D3E | Missense | 3/14 | - | 1 |
2-98340511-C-A | c.12C>A | p.P4= | Synonymous | 3/14 | - | 1 |
2-98340511-C-G | c.12C>G | p.P4= | Synonymous | 3/14 | - | 1 |
2-98340511-C-T | c.12C>T | p.P4= | Synonymous | 3/14 | - | 1 |
2-98340512-G-T | c.13G>T | p.A5S | Missense | 3/14 | - | 1 |
2-98340516-C-A | c.17C>A | p.A6E | Missense | 3/14 | - | 1 |
2-98340516-C-T | c.17C>T | p.A6V | Missense | 3/14 | - | 2 |
2-98340517-G-A | c.18G>A | p.A6= | Synonymous | 3/14 | - | 2 |
2-98340517-G-C | c.18G>C | p.A6= | Synonymous | 3/14 | - | 2 |
2-98340517-G-T | c.18G>T | p.A6= | Synonymous | 3/14 | - | 2 |
2-98340524-C-G | c.25C>G | p.P9A | Missense | 3/14 | - | 1 |
2-98340525-C-T | c.26C>T | p.P9L | Missense | 3/14 | - | 1 |
2-98340528-TC-AA | c.29_30delinsAA | p.F10* | Nonsense | 3/14 | - | 1 |
2-98340529-C-G | c.30C>G | p.F10L | Missense | 3/14 | - | 1 |
2-98340530-TT-CG | c.31_32delinsCG | p.F11R | Missense | 3/14 | - | 10 |
2-98340535-C-T | c.36C>T | p.Y12= | Synonymous | 3/14 | - | 5 |
2-98340536-G-A | c.37G>A | p.G13S | Missense | 3/14 | - | 1 |
2-98340536-G-C | c.37G>C | p.G13R | Missense | 3/14 | - | 2 |
2-98340537-G-A | c.38G>A | p.G13D | Missense | 3/14 | - | 2 |
2-98340538-C-A | c.39C>A | p.G13= | Synonymous | 3/14 | - | 1 |
2-98340539-A-G | c.40A>G | p.S14G | Missense | 3/14 | - | 1 |
2-98340539-AG-CA | c.40_41delinsCA | p.S14H | Missense | 3/14 | - | 1 |
2-98340539-AG-GA | c.40_41delinsGA | p.S14D | Missense | 3/14 | - | 1 |
2-98340539-AG-GC | c.40_41delinsGC | p.S14A | Missense | 3/14 | - | 5 |
2-98340539-A-T | c.40A>T | p.S14C | Missense | 3/14 | - | 1 |
2-98340542-A-G | c.43A>G | p.I15V | Missense | 3/14 | - | 1 |
2-98340545-T-A | c.46T>A | p.S16T | Missense | 3/14 | - | 1 |
2-98340545-TCG-CAT | c.46_48delinsCAT | p.S16H | Missense | 3/14 | - | 2 |
2-98340545-T-G | c.46T>G | p.S16A | Missense | 3/14 | - | 3 |
2-98340548-CG-GC | c.49_50delinsGC | p.R17A | Missense | 3/14 | - | 1 |
2-98340549-G-A | c.50G>A | p.R17H | Missense | 3/14 | - | 2 |
2-98340551-GC-CA | c.52_53delinsCA | p.A18H | Missense | 3/14 | - | 1 |
2-98340552-CC-AG | c.53_54delinsAG | p.A18E | Missense | 3/14 | - | 1 |
2-98340553-C-T | c.54C>T | p.A18= | Synonymous | 3/14 | - | 2 |
2-98340557-GC-TG | c.58_59delinsTG | p.A20C | Missense | 3/14 | - | 1 |
2-98340558-C-A | c.59C>A | p.A20D | Missense | 3/14 | - | 2 |
2-98340559-C-A | c.60C>A | p.A20= | Synonymous | 3/14 | - | 1 |
2-98340559-C-G | c.60C>G | p.A20= | Synonymous | 3/14 | - | 1 |
2-98340559-C-T | c.60C>T | p.A20= | Synonymous | 3/14 | - | 1 |
2-98340560-G-A | c.61G>A | p.E21K | Missense | 3/14 | - | 1 |
2-98340563-GA-CC | c.64_65delinsCC | p.E22P | Missense | 3/14 | - | 2 |
2-98340566-CAC-AAG | c.67_69delinsAAG | p.H23K | Missense | 3/14 | - | 1 |
2-98340569-CT-GA | c.70_71delinsGA | p.L24E | Missense | 3/14 | - | 1 |
2-98340579-C-A | c.80C>A | p.A27E | Missense | 3/14 | - | 2 |
2-98340579-C-T | c.80C>T | p.A27V | Missense | 3/14 | - | 6 |
2-98340581-G-C | c.82G>C | p.G28R | Missense | 3/14 | - | 1 |
2-98340586-G-C | c.87G>C | p.M29I | Missense | 3/14 | - | 1 |
2-98340587-GCG-TTT | c.88_90delinsTTT | p.A30F | Missense | 3/14 | - | 1 |
2-98340588-C-G | c.89C>G | p.A30G | Missense | 3/14 | - | 1 |
2-98340588-CG-AC | c.89_90delinsAC | p.A30D | Missense | 3/14 | - | 1 |
2-98340589-G-A | c.90G>A | p.A30= | Synonymous | 3/14 | - | 2 |
2-98340589-G-C | c.90G>C | p.A30= | Synonymous | 3/14 | - | 1 |
2-98340589-G-T | c.90G>T | p.A30= | Synonymous | 3/14 | - | 1 |
2-98340590-GA-AG | c.91_92delinsAG | p.D31S | Missense | 3/14 | - | 1 |
2-98340594-G-A | c.95G>A | p.G32E | Missense | 3/14 | - | 1 |
2-98340595-G-A | c.96G>A | p.G32= | Synonymous | 3/14 | - | 1 |
2-98340595-G-C | c.96G>C | p.G32= | Synonymous | 3/14 | - | 1 |
2-98340595-G-T | c.96G>T | p.G32= | Synonymous | 3/14 | - | 1 |
2-98340602-CT-GA | c.103_104delinsGA | p.L35E | Missense | 3/14 | - | 1 |
2-98340602-CT-GC | c.103_104delinsGC | p.L35A | Missense | 3/14 | - | 1 |
2-98340602-C-T | c.103C>T | p.L35= | Synonymous | 3/14 | - | 1 |
2-98340604-G-A | c.105G>A | p.L35= | Synonymous | 3/14 | - | 3 |
2-98340604-G-C | c.105G>C | p.L35= | Synonymous | 3/14 | - | 1 |
2-98340604-G-T | c.105G>T | p.L35= | Synonymous | 3/14 | - | 1 |
2-98340605-C-A | c.106C>A | p.L36M | Missense | 3/14 | - | 1 |
2-98340605-C-G | c.106C>G | p.L36V | Missense | 3/14 | - | 1 |
2-98340605-CT-GC | c.106_107delinsGC | p.L36A | Missense | 3/14 | - | 1 |
2-98340608-C-G | c.109C>G | p.R37G | Missense | 3/14 | - | 2 |
2-98340608-CGC-AAG | c.109_111delinsAAG | p.R37K | Missense | 3/14 | - | 2 |
2-98340608-CG-GC | c.109_110delinsGC | p.R37A | Missense | 3/14 | - | 1 |
2-98340609-G-A | c.110G>A | p.R37H | Missense | 3/14 | - | 4 |
2-98340609-G-T | c.110G>T | p.R37L | Missense | 3/14 | - | 1 |
2-98340613-G-C | c.114G>C | p.Q38H | Missense | 3/14 | - | 1 |
2-98340613-G-T | c.114G>T | p.Q38H | Missense | 3/14 | - | 1 |
2-98340614-T-A | c.115T>A | p.C39S | Missense | 3/14 | - | 1 |
2-98340614-T-C | c.115T>C | p.C39R | Missense | 3/14 | - | 1 |
2-98340615-G-C | c.116G>C | p.C39S | Missense | 3/14 | - | 1 |
2-98340617-CTG-TTT | c.118_120delinsTTT | p.L40F | Missense | 3/14 | - | 1 |
2-98340620-C-A | c.121C>A | p.R41S | Missense | 3/14 | - | 1 |
2-98340620-CGC-AAG | c.121_123delinsAAG | p.R41K | Missense | 3/14 | - | 1 |
2-98340620-C-T | c.121C>T | p.R41C | Missense | 3/14 | - | 5 |
2-98340623-T-C | c.124T>C | p.S42P | Missense | 3/14 | - | 1 |
2-98340623-TCG-GAC | c.124_126delinsGAC | p.S42D | Missense | 3/14 | - | 1 |
2-98340623-T-G | c.124T>G | p.S42A | Missense | 3/14 | - | 1 |
2-98340624-C-A | c.125C>A | p.S42* | Nonsense | 3/14 | - | 1 |
2-98340624-CG-TT | c.125_126delinsTT | p.S42F | Missense | 3/14 | - | 2 |
2-98340627-T-A | c.128T>A | p.L43Q | Missense | 3/14 | - | 1 |
2-98340632-G-A | c.133G>A | p.G45S | Missense | 3/14 | - | 2 |
2-98340633-G-A | c.134G>A | p.G45D | Missense | 3/14 | - | 2 |
2-98340636-A-G | c.137A>G | p.Y46C | Missense | 3/14 | - | 1 |
2-98340636-A-T | c.137A>T | p.Y46F | Missense | 3/14 | - | 1 |
2-98340641-C-T | c.142C>T | p.L48= | Synonymous | 3/14 | - | 1 |
2-98340641-CTG-TGT | c.142_144delinsTGT | p.L48C | Missense | 3/14 | - | 1 |
2-98340645-C-T | c.146C>T | p.S49L | Missense | 3/14 | - | 2 |
2-98340647-C-T | c.148C>T | p.L50F | Missense | 3/14 | - | 1 |
2-98340650-GTG-ATC | c.151_153delinsATC | p.V51I | Missense | 3/14 | - | 1 |
2-98340651-T-C | c.152T>C | p.V51A | Missense | 3/14 | - | 1 |
2-98340653-C-T | c.154C>T | p.H52Y | Missense | 3/14 | - | 3 |
2-98340655-C-A | c.156C>A | p.H52Q | Missense | 3/14 | - | 2 |
2-98340655-C-G | c.156C>G | p.H52Q | Missense | 3/14 | - | 1 |
2-98340655-C-T | c.156C>T | p.H52= | Synonymous | 3/14 | - | 1 |
2-98340656-G-A | c.157G>A | p.D53N | Missense | 3/14 | - | 1 |
2-98340656-GA-AG | c.157_158delinsAG | p.D53S | Missense | 3/14 | - | 1 |
2-98340656-G-C | c.157G>C | p.D53H | Missense | 3/14 | - | 1 |
2-98340657-A-G | c.158A>G | p.D53G | Missense | 3/14 | - | 1 |
2-98340662-CGC-ATG | c.163_165delinsATG | p.R55M | Missense | 3/14 | - | 1 |
2-98340662-C-T | c.163C>T | p.R55C | Missense | 3/14 | - | 1 |
2-98340663-G-A | c.164G>A | p.R55H | Missense | 3/14 | - | 1 |
2-98340663-G-T | c.164G>T | p.R55L | Missense | 3/14 | - | 2 |
2-98340677-CC-TA | c.178_179delinsTA | p.P60Y | Missense | 3/14 | - | 1 |
2-98340677-CC-TG | c.178_179delinsTG | p.P60C | Missense | 3/14 | - | 2 |
2-98340680-A-T | c.181A>T | p.I61F | Missense | 3/14 | - | 1 |
2-98340681-T-A | c.182T>A | p.I61N | Missense | 3/14 | - | 1 |
2-98340682-C-T | c.183C>T | p.I61= | Synonymous | 3/14 | - | 1 |
2-98340683-GAG-TGT | c.184_186delinsTGT | p.E62C | Missense | 3/14 | - | 1 |
2-98340686-CGC-TGG | c.187_189delinsTGG | p.R63W | Missense | 3/14 | - | 3 |
2-98340687-G-A | c.188G>A | p.R63H | Missense | 3/14 | - | 2 |
2-98340690-A-T | c.191A>T | p.Q64L | Missense | 3/14 | - | 1 |
2-98340692-C-G | c.193C>G | p.L65V | Missense | 3/14 | - | 1 |
2-98340694-C-T | c.195C>T | p.L65= | Synonymous | 3/14 | - | 1 |
2-98340696-A-G | c.197A>G | p.N66S | Missense | 3/14 | - | 1 |
2-98340697-C-A | c.198C>A | p.N66K | Missense | 3/14 | - | 1 |
2-98340698-G-C | c.199G>C | p.G67R | Missense | 3/14 | - | 1 |
2-98340698-G-T | c.199G>T | p.G67C | Missense | 3/14 | - | 1 |
2-98340699-G-A | c.200G>A | p.G67D | Missense | 3/14 | - | 1 |
2-98340701-A-C | c.202A>C | p.T68P | Missense | 3/14 | - | 1 |
2-98340702-C-T | c.203C>T | p.T68I | Missense | 3/14 | - | 2 |
2-98340703-C-A | c.204C>A | p.T68= | Synonymous | 3/14 | - | 1 |
2-98340703-C-G | c.204C>G | p.T68= | Synonymous | 3/14 | - | 1 |
2-98340703-C-T | c.204C>T | p.T68= | Synonymous | 3/14 | - | 1 |
2-98340706-C-A | c.207C>A | p.Y69* | Nonsense | 3/14 | - | 1 |
2-98340706-C-G | c.207C>G | p.Y69* | Nonsense | 3/14 | - | 1 |
2-98340706-C-T | c.207C>T | p.Y69= | Synonymous | 3/14 | - | 1 |
2-98340707-G-A | c.208G>A | p.A70T | Missense | 3/14 | - | 1 |
2-98340707-GC-TT | c.208_209delinsTT | p.A70F | Missense | 3/14 | - | 2 |
2-98340713-G-A | c.214G>A | p.A72T | Missense | 3/14 | - | 1 |
2-98340713-G-C | c.214G>C | p.A72P | Missense | 3/14 | - | 1 |
2-98340714-C-A | c.215C>A | p.A72D | Missense | 3/14 | - | 3 |
2-98340714-CC-AG | c.215_216delinsAG | p.A72E | Missense | 3/14 | - | 1 |
2-98340715-C-A | c.216C>A | p.A72= | Synonymous | 3/14 | - | 1 |
2-98340715-C-G | c.216C>G | p.A72= | Synonymous | 3/14 | - | 1 |
2-98340715-C-T | c.216C>T | p.A72= | Synonymous | 3/14 | - | 2 |
2-98340719-G-A | c.220G>A | p.G74S | Missense | 3/14 | - | 1 |
2-98340723-A-C | c.224A>C | p.K75T | Missense | 3/14 | - | 1 |
2-98340725-G-A | c.226G>A | p.A76T | Missense | 3/14 | - | 1 |
2-98340725-GC-TG | c.226_227delinsTG | p.A76W | Missense | 3/14 | - | 1 |
2-98340726-C-A | c.227C>A | p.A76E | Missense | 3/14 | - | 2 |
2-98340726-C-T | c.227C>T | p.A76V | Missense | 3/14 | - | 1 |
2-98340727-G-A | c.228G>A | p.A76= | Synonymous | 3/14 | - | 1 |
2-98340727-G-C | c.228G>C | p.A76= | Synonymous | 3/14 | - | 1 |
2-98340727-G-T | c.228G>T | p.A76= | Synonymous | 3/14 | - | 1 |
2-98340729-A-G | c.230A>G | p.H77R | Missense | 3/14 | - | 1 |
2-98340732-G-T | c.233G>T | p.C78F | Missense | 3/14 | - | 1 |
2-98340736-A-C | c.237A>C | p.G79= | Synonymous | 3/14 | - | 1 |
2-98340736-A-G | c.237A>G | p.G79= | Synonymous | 3/14 | - | 2 |
2-98340736-A-T | c.237A>T | p.G79= | Synonymous | 3/14 | - | 1 |
2-98340737-C-A | c.238C>A | p.P80T | Missense | 3/14 | - | 1 |
2-98340737-C-T | c.238C>T | p.P80S | Missense | 3/14 | - | 1 |
2-98340738-C-A | c.239C>A | p.P80Q | Missense | 3/14 | - | 6 |
2-98340738-C-G | c.239C>G | p.P80R | Missense | 3/14 | - | 1 |
2-98340746-CT-GC | c.247_248delinsGC | p.L83A | Missense | 3/14 | - | 1 |
2-98340748-C-T | c.249C>T | p.L83= | Synonymous | 3/14 | - | 1 |
2-98340749-T-C | c.250T>C | p.C84R | Missense | 3/14 | - | 1 |
2-98340749-TG-GC | c.250_251delinsGC | p.C84A | Missense | 3/14 | - | 1 |
2-98340751-C-G | c.252C>G | p.C84W | Missense | 3/14 | - | 1 |
2-98340758-TA-GC | c.259_260delinsGC | p.Y87A | Missense | 3/14 | - | 3 |
2-98340758-T-C | c.259T>C | p.Y87H | Missense | 3/14 | - | 1 |
2-98340760-C-G | c.261C>G | p.Y87* | Nonsense | 3/14 | - | 3 |
2-98340761-TCG-AAC | c.262_264delinsAAC | p.S88N | Missense | 3/14 | - | 1 |
2-98340762-C-T | c.263C>T | p.S88L | Missense | 3/14 | - | 1 |
2-98340763-G-A | c.264G>A | p.S88= | Synonymous | 3/14 | - | 1 |
2-98340766-C-A | c.267C>A | p.R89= | Synonymous | 3/14 | - | 2 |
2-98340766-C-G | c.267C>G | p.R89= | Synonymous | 3/14 | - | 1 |
2-98340766-C-T | c.267C>T | p.R89= | Synonymous | 3/14 | - | 3 |
2-98340767-G-T | c.268G>T | p.D90Y | Missense | 3/14 | - | 1 |
2-98340768-A-C | c.269A>C | p.D90A | Missense | 3/14 | - | 1 |
2-98340770-C-G | c.271C>G | p.P91A | Missense | 3/14 | - | 1 |
2-98340770-C-T | c.271C>T | p.P91S | Missense | 3/14 | - | 1 |
2-98340771-C-T | c.272C>T | p.P91L | Missense | 3/14 | - | 1 |
2-98340772-C-A | c.273C>A | p.P91= | Synonymous | 3/14 | - | 3 |
2-98340772-C-CT | c.273_274insT | p.D92* | Nonsense | 3/14 | - | 1 |
2-98340772-C-G | c.273C>G | p.P91= | Synonymous | 3/14 | - | 3 |
2-98340772-C-T | c.273C>T | p.P91= | Synonymous | 3/14 | - | 4 |
2-98340773-G-A | c.274G>A | p.D92N | Missense | 3/14 | - | 1 |
2-98340773-GA-TG | c.274_275delinsTG | p.D92C | Missense | 3/14 | - | 1 |
2-98340775-C-G | c.276C>G | p.D92E | Missense | 3/14 | - | 1 |
2-98340775-C-T | c.276C>T | p.D92= | Synonymous | 3/14 | - | 2 |
2-98340777-G-A | c.278G>A | p.G93E | Missense | 3/14 | - | 1 |
2-98340777-G-C | c.278G>C | p.G93A | Missense | 3/14 | - | 4 |
2-98340778-G-A | c.279G>A | p.G93= | Synonymous | 3/14 | - | 1 |
2-98340778-G-C | c.279G>C | p.G93= | Synonymous | 3/14 | - | 1 |
2-98340778-G-T | c.279G>T | p.G93= | Synonymous | 3/14 | - | 1 |
2-98340780-T-C | c.281T>C | p.L94P | Missense | 3/14 | - | 1 |
2-98340782-CCC-TGG | c.283_285delinsTGG | p.P95W | Missense | 3/14 | - | 1 |
2-98340782-CC-GT | c.283_284delinsGT | p.P95V | Missense | 3/14 | - | 1 |
2-98340782-C-T | c.283C>T | p.P95S | Missense | 3/14 | - | 2 |
2-98340785-TGC-GAG | c.286_288delinsGAG | p.C96E | Missense | 3/14 | - | 2 |
2-98340786-G-A | c.287G>A | p.C96Y | Missense | 3/14 | - | 1 |
2-98340789-A-G | c.290A>G | p.N97S | Missense | 3/14 | - | 1 |
2-98340791-C-A | c.292C>A | p.L98M | Missense | 3/14 | - | 1 |
2-98340791-C-T | c.292C>T | p.L98= | Synonymous | 3/14 | - | 1 |
2-98340793-G-A | c.294G>A | p.L98= | Synonymous | 3/14 | - | 1 |
2-98340793-G-C | c.294G>C | p.L98= | Synonymous | 3/14 | - | 1 |
2-98340793-G-T | c.294G>T | p.L98= | Synonymous | 3/14 | - | 1 |
2-98340795-G-A | c.296G>A | p.R99H | Missense | 3/14 | - | 2 |
2-98340797-A-T | c.298A>T | p.K100* | Nonsense | 3/14 | - | 2 |
2-98340798-A-G | c.299A>G | p.K100R | Missense | 3/14 | - | 1 |
2-98340801-C-T | c.302C>T | p.P101L | Missense | 3/14 | - | 1 |
2-98340802-G-A | c.303G>A | p.P101= | Synonymous | 3/14 | - | 2 |
2-98340802-G-C | c.303G>C | p.P101= | Synonymous | 3/14 | - | 2 |
2-98340802-G-T | c.303G>T | p.P101= | Synonymous | 3/14 | - | 2 |
2-98340805-C-T | c.306C>T | p.C102= | Synonymous | 3/14 | - | 1 |
2-98340807-A-T | c.308A>T | p.N103I | Missense | 3/14 | - | 1 |
2-98340808-C-A | c.309C>A | p.N103K | Missense | 3/14 | - | 1 |
2-98340809-CGG-TGT | c.310_312delinsTGT | p.R104C | Missense | 3/14 | - | 1 |
2-98340810-G-A | c.311G>A | p.R104Q | Missense | 3/14 | - | 1 |
2-98340810-G-C | c.311G>C | p.R104P | Missense | 3/14 | - | 1 |
2-98340810-G-T | c.311G>T | p.R104L | Missense | 3/14 | - | 1 |
2-98340809-CG-C | c.312del | p.P105Rfs*64 | Frameshift | 3/14 | - | 1 |
2-98340815-T-G | c.316T>G | p.S106A | Missense | 3/14 | - | 1 |
2-98340816-C-G | c.317C>G | p.S106W | Missense | 3/14 | - | 1 |
2-98340818-G-A | c.319G>A | p.G107S | Missense | 3/14 | - | 1 |
2-98340821-C-T | c.322C>T | p.L108F | Missense | 3/14 | - | 3 |
2-98340823-C-A | c.324C>A | p.L108= | Synonymous | 3/14 | - | 1 |
2-98340823-C-G | c.324C>G | p.L108= | Synonymous | 3/14 | - | 1 |
2-98340823-C-T | c.324C>T | p.L108= | Synonymous | 3/14 | - | 1 |
2-98340824-G-A | c.325G>A | p.E109K | Missense | 3/14 | - | 3 |
2-98340827-CC-GG | c.328_329inv | p.P110G | Missense | 3/14 | - | 1 |
2-98340827-CCG-GAC | c.328_330delinsGAC | p.P110D | Missense | 3/14 | - | 3 |
2-98340827-CCG-TGT | c.328_330delinsTGT | p.P110C | Missense | 3/14 | - | 1 |
2-98340827-C-G | c.328C>G | p.P110A | Missense | 3/14 | - | 3 |
2-98340828-C-T | c.329C>T | p.P110L | Missense | 3/14 | - | 1 |
2-98340833-C-G | c.334C>G | p.P112A | Missense | 3/14 | - | 1 |
2-98340833-C-T | c.334C>T | p.P112S | Missense | 3/14 | - | 1 |
2-98340836-G-A | c.337G>A | p.G113R | Missense | 3/14 | - | 1 |
2-98340836-G-C | c.337G>C | p.G113R | Missense | 3/14 | - | 1 |
2-98340842-T-A | c.343T>A | p.F115I | Missense | 3/14 | - | 1 |
2-98340845-G-T | c.346G>T | p.D116Y | Missense | 3/14 | - | 2 |
2-98340848-T-A | c.349T>A | p.C117S | Missense | 3/14 | - | 1 |
2-98340849-G-C | c.350G>C | p.C117S | Missense | 3/14 | - | 1 |
2-98340848-TGCCTGCGAGAC-T | c.353_363del | p.L118Hfs*4 | Frameshift | 3/14 | - | 1 |
2-98340852-T-G | c.353T>G | p.L118R | Missense | 3/14 | - | 1 |
2-98340854-C-T | c.355C>T | p.R119* | Nonsense | 3/14 | - | 5 |
2-98340855-G-A | c.356G>A | p.R119Q | Missense | 3/14 | - | 2 |
2-98340857-G-A | c.358G>A | p.D120N | Missense | 3/14 | - | 1 |
2-98340857-G-C | c.358G>C | p.D120H | Missense | 3/14 | - | 1 |
2-98340859-C-T | c.360C>T | p.D120= | Synonymous | 3/14 | - | 3 |
2-98340860-G-A | c.361G>A | p.A121T | Missense | 3/14 | - | 2 |
2-98340870-G-A | c.371G>A | p.R124H | Missense | 3/14 | - | 1 |
2-98340870-GT-AA | c.371_372delinsAA | p.R124Q | Missense | 3/14 | - | 1 |
2-98340874-C-G | c.375C>G | p.D125E | Missense | 3/14 | - | 1 |
2-98340875-TAC-GAG | c.376_378delinsGAG | p.Y126E | Missense | 3/14 | - | 1 |
2-98340876-A-T | c.377A>T | p.Y126F | Missense | 3/14 | - | 1 |
2-98340877-C-G | c.378C>G | p.Y126* | Nonsense | 3/14 | - | 1 |
2-98340878-G-A | c.379G>A | p.V127M | Missense | 3/14 | - | 1 |
2-98340881-C-T | c.382C>T | p.R128C | Missense | 3/14 | - | 1 |
2-98340882-G-A | c.383G>A | p.R128H | Missense | 3/14 | - | 1 |
2-98340890-TG-GC | c.391_392delinsGC | p.W131A | Missense | 3/14 | - | 8 |
2-98341006-C-G | c.402+105C>G | - | IntronicSNV | - | 3/13 | 1 |
2-98341010-C-T | c.402+109C>T | - | IntronicSNV | - | 3/13 | 1 |
2-98341195-C-G | c.402+294C>G | - | IntronicSNV | - | 3/13 | 1 |
2-98341195-C-T | c.402+294C>T | - | IntronicSNV | - | 3/13 | 1 |
2-98341210-G-T | c.402+309G>T | - | IntronicSNV | - | 3/13 | 1 |
2-98341556-G-A | c.404G>A | p.G135D | Missense | 4/14 | - | 3 |
2-98341557-C-A | c.405C>A | p.G135= | Synonymous | 4/14 | - | 2 |
2-98341557-C-G | c.405C>G | p.G135= | Synonymous | 4/14 | - | 1 |
2-98341557-C-T | c.405C>T | p.G135= | Synonymous | 4/14 | - | 1 |
2-98341558-G-A | c.406G>A | p.E136K | Missense | 4/14 | - | 4 |
2-98341561-G-A | c.409G>A | p.A137T | Missense | 4/14 | - | 1 |
2-98341562-C-A | c.410C>A | p.A137D | Missense | 4/14 | - | 1 |
2-98341564-CT-TC | c.412_413delinsTC | p.L138S | Missense | 4/14 | - | 1 |
2-98341565-T-C | c.413T>C | p.L138P | Missense | 4/14 | - | 1 |
2-98341566-G-A | c.414G>A | p.L138= | Synonymous | 4/14 | - | 2 |
2-98341572-G-A | c.420G>A | p.Q140= | Synonymous | 4/14 | - | 1 |
2-98341574-CC-AG | c.422_423delinsAG | p.A141E | Missense | 4/14 | - | 1 |
2-98341581-C-A | c.429C>A | p.I143= | Synonymous | 4/14 | - | 2 |
2-98341581-C-T | c.429C>T | p.I143= | Synonymous | 4/14 | - | 1 |
2-98341583-G-A | c.431G>A | p.S144N | Missense | 4/14 | - | 3 |
2-98341589-C-T | c.437C>T | p.A146V | Missense | 4/14 | - | 1 |
2-98341591-C-T | c.439C>T | p.P147S | Missense | 4/14 | - | 1 |
2-98341592-C-T | c.440C>T | p.P147L | Missense | 4/14 | - | 1 |
2-98341593-G-A | c.441G>A | p.P147= | Synonymous | 4/14 | - | 3 |
2-98341593-G-C | c.441G>C | p.P147= | Synonymous | 4/14 | - | 2 |
2-98341593-G-T | c.441G>T | p.P147= | Synonymous | 4/14 | - | 2 |
2-98341597-GT-TC | c.445_446delinsTC | p.V149S | Missense | 4/14 | - | 1 |
2-98341598-T-C | c.446T>C | p.V149A | Missense | 4/14 | - | 2 |
2-98341599-G-A | c.447G>A | p.V149= | Synonymous | 4/14 | - | 1 |
2-98341598-TGGA-T | c.448_450del | p.E150del | InFrameDeletion | 4/14 | - | 1 |
2-98341608-C-G | c.456C>G | p.L152= | Synonymous | 4/14 | - | 1 |
2-98341609-A-C | c.457A>C | p.I153L | Missense | 4/14 | - | 1 |
2-98341614-T-A | c.462T>A | p.A154= | Synonymous | 4/14 | - | 1 |
2-98341614-T-C | c.462T>C | p.A154= | Synonymous | 4/14 | - | 1 |
2-98341614-T-G | c.462T>G | p.A154= | Synonymous | 4/14 | - | 1 |
2-98341616-C-A | c.464C>A | p.T155K | Missense | 4/14 | - | 1 |
2-98341616-C-T | c.464C>T | p.T155M | Missense | 4/14 | - | 7 |
2-98341619-C-G | c.467C>G | p.T156R | Missense | 4/14 | - | 1 |
2-98341619-C-T | c.467C>T | p.T156M | Missense | 4/14 | - | 4 |
2-98341622-C-T | c.470C>T | p.A157V | Missense | 4/14 | - | 1 |
2-98341624-C-A | c.472C>A | p.H158N | Missense | 4/14 | - | 1 |
2-98341626-C-A | c.474C>A | p.H158Q | Missense | 4/14 | - | 1 |
2-98341626-C-G | c.474C>G | p.H158Q | Missense | 4/14 | - | 1 |
2-98341626-C-T | c.474C>T | p.H158= | Synonymous | 4/14 | - | 3 |
2-98341627-G-A | c.475G>A | p.E159K | Missense | 4/14 | - | 5 |
2-98341630-C-T | c.478C>T | p.R160W | Missense | 4/14 | - | 4 |
2-98341631-G-A | c.479G>A | p.R160Q | Missense | 4/14 | - | 5 |
2-98341636-C-G | c.484C>G | p.P162A | Missense | 4/14 | - | 2 |
2-98341639-TG-GC | c.487_488delinsGC | p.W163A | Missense | 4/14 | - | 1 |
2-98341641-G-C | c.489G>C | p.W163C | Missense | 4/14 | - | 32 |
2-98341641-G-T | c.489G>T | p.W163C | Missense | 4/14 | - | 32 |
2-98341642-T-C | c.490T>C | p.Y164H | Missense | 4/14 | - | 1 |
2-98341645-CA-GC | c.493_494delinsGC | p.H165A | Missense | 4/14 | - | 1 |
2-98341646-A-G | c.494A>G | p.H165R | Missense | 4/14 | - | 1 |
2-98341648-AG-CT | c.496_497inv | p.S166L | Missense | 4/14 | - | 1 |
2-98341653-C-T | c.501C>T | p.S167= | Synonymous | 4/14 | - | 1 |
2-98341658-C-T | c.506C>T | p.T169M | Missense | 4/14 | - | 4 |
2-98341659-G-A | c.507G>A | p.T169= | Synonymous | 4/14 | - | 5 |
2-98341659-G-C | c.507G>C | p.T169= | Synonymous | 4/14 | - | 3 |
2-98341659-G-T | c.507G>T | p.T169= | Synonymous | 4/14 | - | 3 |
2-98341660-CG-GC | c.508_509delinsGC | p.R170A | Missense | 4/14 | - | 1 |
2-98341660-C-T | c.508C>T | p.R170C | Missense | 4/14 | - | 5 |
2-98341661-G-A | c.509G>A | p.R170H | Missense | 4/14 | - | 2 |
2-98341662-T-A | c.510T>A | p.R170= | Synonymous | 4/14 | - | 1 |
2-98341662-T-C | c.510T>C | p.R170= | Synonymous | 4/14 | - | 1 |
2-98341662-T-G | c.510T>G | p.R170= | Synonymous | 4/14 | - | 1 |
2-98341663-G-A | c.511G>A | p.E171K | Missense | 4/14 | - | 1 |
2-98341664-A-G | c.512A>G | p.E171G | Missense | 4/14 | - | 4 |
2-98341667-A-T | c.515A>T | p.E172V | Missense | 4/14 | - | 1 |
2-98341669-G-T | c.517G>T | p.A173S | Missense | 4/14 | - | 2 |
2-98341671-C-A | c.519C>A | p.A173= | Synonymous | 4/14 | - | 1 |
2-98341671-C-G | c.519C>G | p.A173= | Synonymous | 4/14 | - | 1 |
2-98341671-C-T | c.519C>T | p.A173= | Synonymous | 4/14 | - | 1 |
2-98341672-G-A | c.520G>A | p.E174K | Missense | 4/14 | - | 1 |
2-98341673-A-T | c.521A>T | p.E174V | Missense | 4/14 | - | 1 |
2-98341675-CG-GT | c.523_524delinsGT | p.R175V | Missense | 4/14 | - | 1 |
2-98341675-C-T | c.523C>T | p.R175C | Missense | 4/14 | - | 1 |
2-98341676-G-A | c.524G>A | p.R175H | Missense | 4/14 | - | 6 |
2-98341676-G-T | c.524G>T | p.R175L | Missense | 4/14 | - | 4 |
2-98341678-A-G | c.526A>G | p.K176E | Missense | 4/14 | - | 1 |
2-98341681-C-T | c.529C>T | p.L177F | Missense | 4/14 | - | 1 |
2-98341688-C-T | c.536C>T | p.S179F | Missense | 4/14 | - | 4 |
2-98341690-G-T | c.538G>T | p.G180W | Missense | 4/14 | - | 1 |
2-98341691-G-T | c.539G>T | p.G180V | Missense | 4/14 | - | 1 |
2-98341692-G-A | c.540G>A | p.G180= | Synonymous | 4/14 | - | 2 |
2-98341692-G-C | c.540G>C | p.G180= | Synonymous | 4/14 | - | 1 |
2-98341692-G-T | c.540G>T | p.G180= | Synonymous | 4/14 | - | 1 |
2-98341694-C-T | c.542C>T | p.A181V | Missense | 4/14 | - | 1 |
2-98341695-G-A | c.543G>A | p.A181= | Synonymous | 4/14 | - | 4 |
2-98341695-G-C | c.543G>C | p.A181= | Synonymous | 4/14 | - | 2 |
2-98341695-G-T | c.543G>T | p.A181= | Synonymous | 4/14 | - | 3 |
2-98341698-G-A | c.546G>A | p.Q182= | Synonymous | 4/14 | - | 1 |
2-98341700-CC-TG | c.548_549delinsTG | p.T183M | Missense | 4/14 | - | 1 |
2-98341702-GAC-AAG | c.550_552delinsAAG | p.D184K | Missense | 4/14 | - | 1 |
2-98341703-A-C | c.551A>C | p.D184A | Missense | 4/14 | - | 1 |
2-98341703-A-G | c.551A>G | p.D184G | Missense | 4/14 | - | 6 |
2-98341705-G-A | c.553G>A | p.G185S | Missense | 4/14 | - | 1 |
2-98341706-G-A | c.554G>A | p.G185D | Missense | 4/14 | - | 1 |
2-98341707-C-A | c.555C>A | p.G185= | Synonymous | 4/14 | - | 2 |
2-98341709-A-G | c.557A>G | p.K186R | Missense | 4/14 | - | 1 |
2-98341711-TT-GC | c.559_560delinsGC | p.F187A | Missense | 4/14 | - | 1 |
2-98341713-C-T | c.561C>T | p.F187= | Synonymous | 4/14 | - | 1 |
2-98341717-T-A | c.563+2T>A | - | IntronicSNV | - | 4/13 | 1 |
2-98341728-C-G | c.563+13C>G | - | IntronicSNV | - | 4/13 | 4 |
2-98341728-C-T | c.563+13C>T | - | IntronicSNV | - | 4/13 | 2 |
2-98341808-C-T | c.563+93C>T | - | IntronicSNV | - | 4/13 | 1 |
2-98342069-C-T | c.563+354C>T | - | IntronicSNV | - | 4/13 | 1 |
2-98342323-C-A | c.563+608C>A | - | IntronicSNV | - | 4/13 | 1 |
2-98344595-G-C | c.563+2880G>C | - | IntronicSNV | - | 4/13 | 1 |
2-98345086-T-G | c.563+3371T>G | - | IntronicSNV | - | 4/13 | 1 |
2-98349350-AG-GC | c.568_569delinsGC | p.R190A | Missense | 5/14 | - | 3 |
2-98349351-G-A | c.569G>A | p.R190K | Missense | 5/14 | - | 3 |
2-98349351-G-C | c.569G>C | p.R190T | Missense | 5/14 | - | 1 |
2-98349352-G-C | c.570G>C | p.R190S | Missense | 5/14 | - | 1 |
2-98349352-G-T | c.570G>T | p.R190S | Missense | 5/14 | - | 1 |
2-98349353-C-A | c.571C>A | p.P191T | Missense | 5/14 | - | 1 |
2-98349354-C-A | c.572C>A | p.P191Q | Missense | 5/14 | - | 1 |
2-98349354-C-G | c.572C>G | p.P191R | Missense | 5/14 | - | 1 |
2-98349354-C-T | c.572C>T | p.P191L | Missense | 5/14 | - | 8 |
2-98349355-G-A | c.573G>A | p.P191= | Synonymous | 5/14 | - | 4 |
2-98349355-G-C | c.573G>C | p.P191= | Synonymous | 5/14 | - | 2 |
2-98349355-G-T | c.573G>T | p.P191= | Synonymous | 5/14 | - | 2 |
2-98349356-C-A | c.574C>A | p.R192= | Synonymous | 5/14 | - | 1 |
2-98349356-CG-GC | c.574_575delinsGC | p.R192A | Missense | 5/14 | - | 2 |
2-98349356-C-T | c.574C>T | p.R192W | Missense | 5/14 | - | 14 |
2-98349358-G-C | c.576G>C | p.R192= | Synonymous | 5/14 | - | 1 |
2-98349358-G-T | c.576G>T | p.R192= | Synonymous | 5/14 | - | 1 |
2-98349358-G-A | c.576G>A | p.R192= | Synonymous | 5/14 | - | 3 |
2-98349359-A-G | c.577A>G | p.K193E | Missense | 5/14 | - | 1 |
2-98349360-A-G | c.578A>G | p.K193R | Missense | 5/14 | - | 1 |
2-98349363-A-G | c.581A>G | p.E194G | Missense | 5/14 | - | 1 |
2-98349365-C-A | c.583C>A | p.Q195K | Missense | 5/14 | - | 1 |
2-98349367-G-C | c.585G>C | p.Q195H | Missense | 5/14 | - | 2 |
2-98349367-G-T | c.585G>T | p.Q195H | Missense | 5/14 | - | 3 |
2-98349369-G-T | c.587G>T | p.G196V | Missense | 5/14 | - | 1 |
2-98349371-AC-GA | c.589_590delinsGA | p.T197E | Missense | 5/14 | - | 1 |
2-98349371-A-G | c.589A>G | p.T197A | Missense | 5/14 | - | 1 |
2-98349373-A-C | c.591A>C | p.T197= | Synonymous | 5/14 | - | 1 |
2-98349373-A-G | c.591A>G | p.T197= | Synonymous | 5/14 | - | 1 |
2-98349373-A-T | c.591A>T | p.T197= | Synonymous | 5/14 | - | 1 |
2-98349374-TA-GG | c.592_593delinsGG | p.Y198G | Missense | 5/14 | - | 1 |
2-98349374-T-TA | c.593dup | p.Y198* | Nonsense | 5/14 | - | 1 |
2-98349375-A-T | c.593A>T | p.Y198F | Missense | 5/14 | - | 1 |
2-98349377-G-A | c.595G>A | p.A199T | Missense | 5/14 | - | 2 |
2-98349378-C-A | c.596C>A | p.A199D | Missense | 5/14 | - | 2 |
2-98349380-CCT-C | c.598_599del | p.L200Vfs*30 | Frameshift | 5/14 | - | 1 |
2-98349379-CCTGTCCCT-C | c.599_606del | p.L200Hfs*28 | Frameshift | 5/14 | - | 1 |
2-98349382-TG-T | c.600del | p.S201Pfs*39 | Frameshift | 5/14 | - | 1 |
2-98349383-T-C | c.601T>C | p.S201P | Missense | 5/14 | - | 1 |
2-98349392-TA-GC | c.610_611delinsGC | p.Y204A | Missense | 5/14 | - | 1 |
2-98349393-A-T | c.611A>T | p.Y204F | Missense | 5/14 | - | 1 |
2-98349395-GGG-AGC | c.613_615delinsAGC | p.G205S | Missense | 5/14 | - | 1 |
2-98349397-G-A | c.615G>A | p.G205= | Synonymous | 5/14 | - | 1 |
2-98349398-A-G | c.616A>G | p.K206E | Missense | 5/14 | - | 1 |
2-98349401-A-G | c.619A>G | p.T207A | Missense | 5/14 | - | 1 |
2-98349401-A-T | c.619A>T | p.T207S | Missense | 5/14 | - | 1 |
2-98349402-C-T | c.620C>T | p.T207M | Missense | 5/14 | - | 2 |
2-98349403-G-A | c.621G>A | p.T207= | Synonymous | 5/14 | - | 1 |
2-98349403-G-C | c.621G>C | p.T207= | Synonymous | 5/14 | - | 1 |
2-98349403-G-T | c.621G>T | p.T207= | Synonymous | 5/14 | - | 1 |
2-98349405-T-A | c.623T>A | p.V208E | Missense | 5/14 | - | 1 |
2-98349405-T-C | c.623T>C | p.V208A | Missense | 5/14 | - | 1 |
2-98349407-T-C | c.625T>C | p.Y209H | Missense | 5/14 | - | 2 |
2-98349416-C-A | c.634C>A | p.L212I | Missense | 5/14 | - | 1 |
2-98349418-C-A | c.636C>A | p.L212= | Synonymous | 5/14 | - | 1 |
2-98349418-C-G | c.636C>G | p.L212= | Synonymous | 5/14 | - | 1 |
2-98349418-C-T | c.636C>T | p.L212= | Synonymous | 5/14 | - | 1 |
2-98349419-A-C | c.637A>C | p.I213L | Missense | 5/14 | - | 1 |
2-98349423-G-T | c.641G>T | p.S214I | Missense | 5/14 | - | 1 |
2-98349432-A-T | c.650A>T | p.K217M | Missense | 5/14 | - | 3 |
2-98349434-G-T | c.652G>T | p.A218S | Missense | 5/14 | - | 1 |
2-98349435-C-T | c.653C>T | p.A218V | Missense | 5/14 | - | 4 |
2-98349436-G-A | c.654G>A | p.A218= | Synonymous | 5/14 | - | 1 |
2-98349436-G-C | c.654G>C | p.A218= | Synonymous | 5/14 | - | 1 |
2-98349436-G-T | c.654G>T | p.A218= | Synonymous | 5/14 | - | 1 |
2-98349439-C-T | c.657C>T | p.G219= | Synonymous | 5/14 | - | 1 |
2-98349441-A-T | c.659A>T | p.K220M | Missense | 5/14 | - | 1 |
2-98349442-G-C | c.660G>C | p.K220N | Missense | 5/14 | - | 1 |
2-98349443-TAC-GAG | c.661_663delinsGAG | p.Y221E | Missense | 5/14 | - | 1 |
2-98349444-A-T | c.662A>T | p.Y221F | Missense | 5/14 | - | 1 |
2-98349447-G-T | c.665G>T | p.C222F | Missense | 5/14 | - | 1 |
2-98349452-C-T | c.670C>T | p.P224S | Missense | 5/14 | - | 2 |
2-98349453-C-A | c.671C>A | p.P224H | Missense | 5/14 | - | 1 |
2-98349453-C-T | c.671C>T | p.P224L | Missense | 5/14 | - | 1 |
2-98349454-C-T | c.672C>T | p.P224= | Synonymous | 5/14 | - | 2 |
2-98349455-G-A | c.673G>A | p.E225K | Missense | 5/14 | - | 2 |
2-98349455-G-T | c.673G>T | p.E225* | Nonsense | 5/14 | - | 1 |
2-98349458-G-A | c.676G>A | p.G226S | Missense | 5/14 | - | 1 |
2-98349459-G-A | c.677G>A | p.G226D | Missense | 5/14 | - | 1 |
2-98349462-C-T | c.680C>T | p.T227I | Missense | 5/14 | - | 5 |
2-98349463-C-T | c.681C>T | p.T227= | Synonymous | 5/14 | - | 1 |
2-98349469-T-A | c.687T>A | p.F229L | Missense | 5/14 | - | 1 |
2-98349470-G-A | c.688G>A | p.D230N | Missense | 5/14 | - | 2 |
2-98349474-C-A | c.692C>A | p.T231K | Missense | 5/14 | - | 1 |
2-98349474-CG-TC | c.692_693delinsTC | p.T231I | Missense | 5/14 | - | 1 |
2-98349474-C-T | c.692C>T | p.T231M | Missense | 5/14 | - | 4 |
2-98349475-G-GC | c.694dup | p.L232Pfs*64 | Frameshift | 5/14 | - | 1 |
2-98349480-G-A | c.698G>A | p.W233* | Nonsense | 5/14 | - | 2 |
2-98349481-G-A | c.699G>A | p.W233* | Nonsense | 5/14 | - | 2 |
2-98349484-G-T | c.702G>T | p.Q234H | Missense | 5/14 | - | 1 |
2-98349489-G-C | c.702+5G>C | - | IntronicSNV | - | 5/13 | 1 |
2-98349518-C-T | c.702+34C>T | - | IntronicSNV | - | 5/13 | 1 |
2-98349588-C-G | c.703C>G | p.L235V | Missense | 6/14 | - | 1 |
2-98349588-CT-GA | c.703_704delinsGA | p.L235E | Missense | 6/14 | - | 1 |
2-98349594-G-A | c.709G>A | p.E237K | Missense | 6/14 | - | 1 |
2-98349594-G-T | c.709G>T | p.E237* | Nonsense | 6/14 | - | 1 |
2-98349600-C-T | c.715C>T | p.L239= | Synonymous | 6/14 | - | 2 |
2-98349600-CT-TC | c.715_716delinsTC | p.L239S | Missense | 6/14 | - | 2 |
2-98349602-G-A | c.717G>A | p.L239= | Synonymous | 6/14 | - | 1 |
2-98349602-G-C | c.717G>C | p.L239= | Synonymous | 6/14 | - | 1 |
2-98349602-G-T | c.717G>T | p.L239= | Synonymous | 6/14 | - | 1 |
2-98349605-G-A | c.720G>A | p.K240= | Synonymous | 6/14 | - | 1 |
2-98349607-T-C | c.722T>C | p.L241P | Missense | 6/14 | - | 1 |
2-98349609-AA-GG | c.724_725delinsGG | p.K242G | Missense | 6/14 | - | 1 |
2-98349613-C-T | c.728C>T | p.A243V | Missense | 6/14 | - | 4 |
2-98349614-G-A | c.729G>A | p.A243= | Synonymous | 6/14 | - | 2 |
2-98349618-G-A | c.733G>A | p.G245R | Missense | 6/14 | - | 4 |
2-98349618-G-C | c.733G>C | p.G245R | Missense | 6/14 | - | 1 |
2-98349624-A-T | c.739A>T | p.I247F | Missense | 6/14 | - | 1 |
2-98349628-A-G | c.743A>G | p.Y248C | Missense | 6/14 | - | 1 |
2-98349628-A-T | c.743A>T | p.Y248F | Missense | 6/14 | - | 1 |
2-98349629-C-A | c.744C>A | p.Y248* | Nonsense | 6/14 | - | 1 |
2-98349629-C-G | c.744C>G | p.Y248* | Nonsense | 6/14 | - | 1 |
2-98349639-G-A | c.754G>A | p.E252K | Missense | 6/14 | - | 2 |
2-98349640-A-T | c.755A>T | p.E252V | Missense | 6/14 | - | 1 |
2-98349641-G-A | c.756G>A | p.E252= | Synonymous | 6/14 | - | 7 |
2-98349645-T-A | c.760T>A | p.C254S | Missense | 6/14 | - | 1 |
2-98349646-G-C | c.761G>C | p.C254S | Missense | 6/14 | - | 1 |
2-98349647-C-T | c.762C>T | p.C254= | Synonymous | 6/14 | - | 2 |
2-98349646-GCCC-G | c.763_765del | p.P255del | InFrameDeletion | 6/14 | - | 2 |
2-98349648-CC-AA | c.763_764delinsAA | p.P255N | Missense | 6/14 | - | 1 |
2-98349648-CCC-AAG | c.763_765delinsAAG | p.P255K | Missense | 6/14 | - | 1 |
2-98349648-CC-GA | c.763_764delinsGA | p.P255D | Missense | 6/14 | - | 1 |
2-98349648-C-G | c.763C>G | p.P255A | Missense | 6/14 | - | 1 |
2-98349648-C-T | c.763C>T | p.P255S | Missense | 6/14 | - | 3 |
2-98349649-C-A | c.764C>A | p.P255H | Missense | 6/14 | - | 1 |
2-98349649-C-T | c.764C>T | p.P255L | Missense | 6/14 | - | 1 |
2-98349650-C-A | c.765C>A | p.P255= | Synonymous | 6/14 | - | 1 |
2-98349651-A-G | c.766A>G | p.N256D | Missense | 6/14 | - | 1 |
2-98349658-G-C | c.773G>C | p.S258T | Missense | 6/14 | - | 1 |
2-98349660-G-C | c.775G>C | p.A259P | Missense | 6/14 | - | 1 |
2-98349661-C-T | c.776C>T | p.A259V | Missense | 6/14 | - | 1 |
2-98349664-G-A | c.779G>A | p.S260N | Missense | 6/14 | - | 1 |
2-98349664-G-GC | c.780dup | p.N261Qfs*35 | Frameshift | 6/14 | - | 1 |
2-98349669-G-A | c.784G>A | p.A262T | Missense | 6/14 | - | 3 |
2-98349670-C-T | c.785C>T | p.A262V | Missense | 6/14 | - | 4 |
2-98349673-C-T | c.788C>T | p.S263L | Missense | 6/14 | - | 2 |
2-98349680-C-T | c.790+5C>T | - | IntronicSNV | - | 6/13 | 2 |
2-98349694-C-T | c.790+19C>T | - | IntronicSNV | - | 6/13 | 1 |
2-98349761-G-A | c.792G>A | p.G264= | Synonymous | 7/14 | - | 1 |
2-98349762-G-T | c.793G>T | p.A265S | Missense | 7/14 | - | 1 |
2-98349763-C-T | c.794C>T | p.A265V | Missense | 7/14 | - | 1 |
2-98349768-G-A | c.799G>A | p.A267T | Missense | 7/14 | - | 1 |
2-98349771-C-T | c.802C>T | p.P268S | Missense | 7/14 | - | 2 |
2-98349778-T-C | c.809T>C | p.L270P | Missense | 7/14 | - | 1 |
2-98349779-C-A | c.810C>A | p.L270= | Synonymous | 7/14 | - | 2 |
2-98349779-C-G | c.810C>G | p.L270= | Synonymous | 7/14 | - | 2 |
2-98349779-C-T | c.810C>T | p.L270= | Synonymous | 7/14 | - | 2 |
2-98349780-C-T | c.811C>T | p.P271S | Missense | 7/14 | - | 3 |
2-98349783-G-A | c.814G>A | p.A272T | Missense | 7/14 | - | 1 |
2-98349789-C-T | c.820C>T | p.P274S | Missense | 7/14 | - | 1 |
2-98349794-C-A | c.825C>A | p.S275= | Synonymous | 7/14 | - | 1 |
2-98349794-C-G | c.825C>G | p.S275= | Synonymous | 7/14 | - | 1 |
2-98349794-C-T | c.825C>T | p.S275= | Synonymous | 7/14 | - | 2 |
2-98349795-A-C | c.826A>C | p.T276P | Missense | 7/14 | - | 1 |
2-98349796-C-T | c.827C>T | p.T276M | Missense | 7/14 | - | 2 |
2-98349797-G-A | c.828G>A | p.T276= | Synonymous | 7/14 | - | 1 |
2-98349797-G-C | c.828G>C | p.T276= | Synonymous | 7/14 | - | 1 |
2-98349797-G-T | c.828G>T | p.T276= | Synonymous | 7/14 | - | 1 |
2-98349801-A-G | c.832A>G | p.T278A | Missense | 7/14 | - | 1 |
2-98349805-CAT-C | c.836_837del | p.H279Pfs*16 | SpliceDonorDeletion | 7/14 | - | 3 |
2-98349812-T-C | c.837+6T>C | - | IntronicSNV | - | 7/13 | 1 |
2-98349927-G-A | c.838-80G>A | - | IntronicSNV | - | 7/13 | 4 |
2-98350010-C-A | c.841C>A | p.Q281K | Missense | 8/14 | - | 1 |
2-98350010-C-T | c.841C>T | p.Q281* | Nonsense | 8/14 | - | 2 |
2-98350016-CGA-TGT | c.847_849delinsTGT | p.R283C | Missense | 8/14 | - | 1 |
2-98350016-C-T | c.847C>T | p.R283* | Nonsense | 8/14 | - | 5 |
2-98350017-G-A | c.848G>A | p.R283Q | Missense | 8/14 | - | 3 |
2-98350017-G-C | c.848G>C | p.R283P | Missense | 8/14 | - | 1 |
2-98350021-C-A | c.852C>A | p.I284= | Synonymous | 8/14 | - | 2 |
2-98350021-C-T | c.852C>T | p.I284= | Synonymous | 8/14 | - | 2 |
2-98350022-G-A | c.853G>A | p.D285N | Missense | 8/14 | - | 2 |
2-98350024-C-T | c.855C>T | p.D285= | Synonymous | 8/14 | - | 2 |
2-98350026-C-A | c.857C>A | p.T286N | Missense | 8/14 | - | 2 |
2-98350026-C-T | c.857C>T | p.T286I | Missense | 8/14 | - | 1 |
2-98350037-G-A | c.868G>A | p.D290N | Missense | 8/14 | - | 2 |
2-98350038-A-C | c.869A>C | p.D290A | Missense | 8/14 | - | 2 |
2-98350039-T-C | c.870T>C | p.D290= | Synonymous | 8/14 | - | 1 |
2-98350040-G-A | c.871G>A | p.G291R | Missense | 8/14 | - | 1 |
2-98350040-G-C | c.871G>C | p.G291R | Missense | 8/14 | - | 1 |
2-98350041-G-A | c.872G>A | p.G291E | Missense | 8/14 | - | 1 |
2-98350043-T-A | c.874T>A | p.Y292N | Missense | 8/14 | - | 1 |
2-98350044-A-T | c.875A>T | p.Y292F | Missense | 8/14 | - | 12 |
2-98350045-C-A | c.876C>A | p.Y292* | Nonsense | 8/14 | - | 2 |
2-98350045-C-G | c.876C>G | p.Y292* | Nonsense | 8/14 | - | 2 |
2-98350046-A-G | c.877A>G | p.T293A | Missense | 8/14 | - | 1 |
2-98350049-CCT-ATG | c.880_882delinsATG | p.P294M | Missense | 8/14 | - | 1 |
2-98350049-C-G | c.880C>G | p.P294A | Missense | 8/14 | - | 1 |
2-98350050-C-T | c.881C>T | p.P294L | Missense | 8/14 | - | 1 |
2-98350116-TC-T | c.889+58del | - | IntronicDeletion | - | 8/13 | 1 |
2-98350157-C-A | c.889+99C>A | - | IntronicSNV | - | 8/13 | 1 |
2-98350158-G-A | c.889+100G>A | - | IntronicSNV | - | 8/13 | 1 |
2-98350189-A-T | c.889+131A>T | - | IntronicSNV | - | 8/13 | 1 |
2-98350346-C-T | c.889+288C>T | - | IntronicSNV | - | 8/13 | 2 |
2-98350886-G-C | c.890-97G>C | - | IntronicSNV | - | 8/13 | 1 |
2-98350967-C-T | c.890-16C>T | - | IntronicSNV | - | 8/13 | 2 |
2-98350985-C-T | c.892C>T | p.R298C | Missense | 9/14 | - | 2 |
2-98350986-G-A | c.893G>A | p.R298H | Missense | 9/14 | - | 1 |
2-98350987-C-A | c.894C>A | p.R298= | Synonymous | 9/14 | - | 1 |
2-98350991-AC-GG | c.898_899delinsGG | p.T300G | Missense | 9/14 | - | 1 |
2-98350992-CG-AC | c.899_900delinsAC | p.T300N | Missense | 9/14 | - | 1 |
2-98350992-C-T | c.899C>T | p.T300M | Missense | 9/14 | - | 2 |
2-98350993-G-A | c.900G>A | p.T300= | Synonymous | 9/14 | - | 2 |
2-98350993-G-C | c.900G>C | p.T300= | Synonymous | 9/14 | - | 1 |
2-98350993-G-T | c.900G>T | p.T300= | Synonymous | 9/14 | - | 1 |
2-98350994-TC-CG | c.901_902delinsCG | p.S301R | Missense | 9/14 | - | 1 |
2-98350995-C-T | c.902C>T | p.S301F | Missense | 9/14 | - | 3 |
2-98351001-A-G | c.908A>G | p.D303G | Missense | 9/14 | - | 6 |
2-98351002-C-G | c.909C>G | p.D303E | Missense | 9/14 | - | 2 |
2-98351003-A-T | c.910A>T | p.K304* | Nonsense | 9/14 | - | 2 |
2-98351007-C-G | c.914C>G | p.P305R | Missense | 9/14 | - | 1 |
2-98351007-C-T | c.914C>T | p.P305L | Missense | 9/14 | - | 3 |
2-98351008-G-A | c.915G>A | p.P305= | Synonymous | 9/14 | - | 2 |
2-98351008-G-C | c.915G>C | p.P305= | Synonymous | 9/14 | - | 1 |
2-98351008-G-T | c.915G>T | p.P305= | Synonymous | 9/14 | - | 1 |
2-98351009-C-T | c.916C>T | p.R306W | Missense | 9/14 | - | 4 |
2-98351010-CGG-C | c.917_918del | p.R306Pfs*10 | Frameshift | 9/14 | - | 1 |
2-98351011-G-A | c.918G>A | p.R306= | Synonymous | 9/14 | - | 1 |
2-98351012-C-T | c.919C>T | p.P307S | Missense | 9/14 | - | 1 |
2-98351013-C-T | c.920C>T | p.P307L | Missense | 9/14 | - | 5 |
2-98351014-CG-C | c.921del | p.M308Cfs*25 | Frameshift | 9/14 | - | 1 |
2-98351014-G-A | c.921G>A | p.P307= | Synonymous | 9/14 | - | 4 |
2-98351014-G-C | c.921G>C | p.P307= | Synonymous | 9/14 | - | 2 |
2-98351014-G-T | c.921G>T | p.P307= | Synonymous | 9/14 | - | 1 |
2-98351015-GA-G | c.922del | p.M308Cfs*25 | Frameshift | 9/14 | - | 1 |
2-98351025-A-G | c.932A>G | p.D311G | Missense | 9/14 | - | 1 |
2-98351026-C-A | c.933C>A | p.D311E | Missense | 9/14 | - | 1 |
2-98351028-C-A | c.935C>A | p.T312K | Missense | 9/14 | - | 1 |
2-98351028-C-T | c.935C>T | p.T312M | Missense | 9/14 | - | 2 |
2-98351029-G-A | c.936G>A | p.T312= | Synonymous | 9/14 | - | 5 |
2-98351029-G-C | c.936G>C | p.T312= | Synonymous | 9/14 | - | 4 |
2-98351029-G-T | c.936G>T | p.T312= | Synonymous | 9/14 | - | 3 |
2-98351031-G-C | c.938G>C | p.S313T | Missense | 9/14 | - | 1 |
2-98351031-G-T | c.938G>T | p.S313I | Missense | 9/14 | - | 1 |
2-98351032-C-G | c.939C>G | p.S313R | Missense | 9/14 | - | 1 |
2-98351036-TA-GC | c.943_944delinsGC | p.Y315A | Missense | 9/14 | - | 4 |
2-98351037-A-T | c.944A>T | p.Y315F | Missense | 9/14 | - | 14 |
2-98351038-T-A | c.945T>A | p.Y315* | Nonsense | 9/14 | - | 2 |
2-98351038-T-G | c.945T>G | p.Y315* | Nonsense | 9/14 | - | 3 |
2-98351039-G-T | c.946G>T | p.E316* | Nonsense | 9/14 | - | 1 |
2-98351043-G-C | c.950G>C | p.S317T | Missense | 9/14 | - | 1 |
2-98351046-C-T | c.953C>T | p.P318L | Missense | 9/14 | - | 1 |
2-98351048-TAC-GAG | c.955_957delinsGAG | p.Y319E | Missense | 9/14 | - | 1 |
2-98351048-TA-GC | c.955_956delinsGC | p.Y319A | Missense | 9/14 | - | 2 |
2-98351048-T-C | c.955T>C | p.Y319H | Missense | 9/14 | - | 1 |
2-98351049-A-T | c.956A>T | p.Y319F | Missense | 9/14 | - | 11 |
2-98351054-G-A | c.961G>A | p.D321N | Missense | 9/14 | - | 1 |
2-98351063-G-A | c.970G>A | p.E324K | Missense | 9/14 | - | 1 |
2-98351063-G-T | c.970G>T | p.E324* | Nonsense | 9/14 | - | 1 |
2-98351064-A-C | c.971A>C | p.E324A | Missense | 9/14 | - | 1 |
2-98351068-C-A | c.975C>A | p.L325= | Synonymous | 9/14 | - | 1 |
2-98351068-C-G | c.975C>G | p.L325= | Synonymous | 9/14 | - | 1 |
2-98351068-C-T | c.975C>T | p.L325= | Synonymous | 9/14 | - | 1 |
2-98351069-AA-GC | c.976_977delinsGC | p.K326A | Missense | 9/14 | - | 1 |
2-98351069-AA-TG | c.976_977delinsTG | p.K326W | Missense | 9/14 | - | 1 |
2-98351069-A-G | c.976A>G | p.K326E | Missense | 9/14 | - | 1 |
2-98351070-A-T | c.977A>T | p.K326M | Missense | 9/14 | - | 1 |
2-98351072-G-A | c.979G>A | p.D327N | Missense | 9/14 | - | 4 |
2-98351072-GA-CC | c.979_980delinsCC | p.D327P | Missense | 9/14 | - | 1 |
2-98351073-A-C | c.980A>C | p.D327A | Missense | 9/14 | - | 1 |
2-98351074-C-G | c.981C>G | p.D327E | Missense | 9/14 | - | 1 |
2-98351082-T-C | c.989T>C | p.L330P | Missense | 9/14 | - | 1 |
2-98351091-A-G | c.998A>G | p.K333R | Missense | 9/14 | - | 1 |
2-98351092-G-A | c.999G>A | p.K333= | Synonymous | 9/14 | - | 1 |
2-98351093-C-T | c.1000C>T | p.R334C | Missense | 9/14 | - | 5 |
2-98351094-G-A | c.1001G>A | p.R334H | Missense | 9/14 | - | 2 |
2-98351094-GC-AA | c.1001_1002delinsAA | p.R334Q | Missense | 9/14 | - | 1 |
2-98351095-C-A | c.1002C>A | p.R334= | Synonymous | 9/14 | - | 1 |
2-98351095-C-G | c.1002C>G | p.R334= | Synonymous | 9/14 | - | 1 |
2-98351095-C-T | c.1002C>T | p.R334= | Synonymous | 9/14 | - | 1 |
2-98351096-G-A | c.1003G>A | p.D335N | Missense | 9/14 | - | 1 |
2-98351096-G-C | c.1003G>C | p.D335H | Missense | 9/14 | - | 1 |
2-98351099-A-G | c.1006A>G | p.N336D | Missense | 9/14 | - | 1 |
2-98351102-CT-GC | c.1009_1010delinsGC | p.L337A | Missense | 9/14 | - | 1 |
2-98351103-T-G | c.1010T>G | p.L337R | Missense | 9/14 | - | 4 |
2-98351105-C-T | c.1012C>T | p.L338F | Missense | 9/14 | - | 1 |
2-98351108-ATA-GAC | c.1015_1017delinsGAC | p.I339D | Missense | 9/14 | - | 1 |
2-98351108-AT-GC | c.1015_1016delinsGC | p.I339A | Missense | 9/14 | - | 1 |
2-98351109-T-C | c.1016T>C | p.I339T | Missense | 9/14 | - | 2 |
2-98351115-A-C | c.1022A>C | p.D341A | Missense | 9/14 | - | 1 |
2-98351118-T-C | c.1025T>C | p.I342T | Missense | 9/14 | - | 2 |
2-98351120-G-A | c.1027G>A | p.E343K | Missense | 9/14 | - | 1 |
2-98351121-A-C | c.1028A>C | p.E343A | Missense | 9/14 | - | 1 |
2-98351121-A-G | c.1028A>G | p.E343G | Missense | 9/14 | - | 1 |
2-98351124-T-C | c.1031T>C | p.L344P | Missense | 9/14 | - | 1 |
2-98351131-C-T | c.1038C>T | p.C346= | Synonymous | 9/14 | - | 3 |
2-98351132-G-A | c.1039G>A | p.G347S | Missense | 9/14 | - | 5 |
2-98351137-C-T | c.1044C>T | p.N348= | Synonymous | 9/14 | - | 1 |
2-98351139-T-G | c.1046T>G | p.F349C | Missense | 9/14 | - | 1 |
2-98351150-C-A | c.1057C>A | p.R353S | Missense | 9/14 | - | 1 |
2-98351150-C-T | c.1057C>T | p.R353C | Missense | 9/14 | - | 6 |
2-98351151-G-A | c.1058G>A | p.R353H | Missense | 9/14 | - | 1 |
2-98351155-G-A | c.1062G>A | p.Q354= | Synonymous | 9/14 | - | 1 |
2-98351156-G-C | c.1063G>C | p.G355R | Missense | 9/14 | - | 1 |
2-98351157-G-A | c.1064G>A | p.G355D | Missense | 9/14 | - | 1 |
2-98351158-C-A | c.1065C>A | p.G355= | Synonymous | 9/14 | - | 2 |
2-98351158-C-G | c.1065C>G | p.G355= | Synonymous | 9/14 | - | 2 |
2-98351158-C-T | c.1065C>T | p.G355= | Synonymous | 9/14 | - | 3 |
2-98351159-G-A | c.1066G>A | p.V356M | Missense | 9/14 | - | 1 |
2-98351160-T-C | c.1067T>C | p.V356A | Missense | 9/14 | - | 1 |
2-98351161-G-C | c.1068G>C | p.V356= | Synonymous | 9/14 | - | 2 |
2-98351163-A-G | c.1070A>G | p.Y357C | Missense | 9/14 | - | 1 |
2-98351165-C-T | c.1072C>T | p.R358C | Missense | 9/14 | - | 1 |
2-98351166-G-A | c.1073G>A | p.R358H | Missense | 9/14 | - | 6 |
2-98351166-G-C | c.1073G>C | p.R358P | Missense | 9/14 | - | 1 |
2-98351166-GC-AA | c.1073_1074delinsAA | p.R358Q | Missense | 9/14 | - | 1 |
2-98351166-G-T | c.1073G>T | p.R358L | Missense | 9/14 | - | 3 |
2-98351168-A-T | c.1075A>T | p.M359L | Missense | 9/14 | - | 1 |
2-98351171-CGC-TGA | c.1078_1080delinsTGA | p.R360* | Nonsense | 9/14 | - | 1 |
2-98351171-C-T | c.1078C>T | p.R360C | Missense | 9/14 | - | 2 |
2-98351172-G-A | c.1079G>A | p.R360H | Missense | 9/14 | - | 6 |
2-98351172-G-C | c.1079G>C | p.R360P | Missense | 9/14 | - | 15 |
2-98351172-G-T | c.1079G>T | p.R360L | Missense | 9/14 | - | 1 |
2-98351178-A-T | c.1082+3A>T | - | IntronicSNV | - | 9/13 | 1 |
2-98351179-T-A | c.1082+4T>A | - | IntronicSNV | - | 9/13 | 1 |
2-98351183-C-T | c.1082+8C>T | - | IntronicSNV | - | 9/13 | 1 |
2-98351198-G-C | c.1082+23G>C | - | IntronicSNV | - | 9/13 | 1 |
2-98351206-C-T | c.1082+31C>T | - | IntronicSNV | - | 9/13 | 1 |
2-98351220-G-C | c.1082+45G>C | - | IntronicSNV | - | 9/13 | 1 |
2-98351702-G-A | c.1083-11G>A | - | IntronicSNV | - | 9/13 | 1 |
2-98351714-AA-GC | c.1084_1085delinsGC | p.K362A | Missense | 10/14 | - | 1 |
2-98351714-A-G | c.1084A>G | p.K362E | Missense | 10/14 | - | 3 |
2-98351723-G-A | c.1093G>A | p.D365N | Missense | 10/14 | - | 1 |
2-98351723-G-C | c.1093G>C | p.D365H | Missense | 10/14 | - | 1 |
2-98351725-C-A | c.1095C>A | p.D365E | Missense | 10/14 | - | 3 |
2-98351725-C-G | c.1095C>G | p.D365E | Missense | 10/14 | - | 2 |
2-98351725-C-T | c.1095C>T | p.D365= | Synonymous | 10/14 | - | 1 |
2-98351726-G-A | c.1096G>A | p.V366M | Missense | 10/14 | - | 4 |
2-98351727-T-A | c.1097T>A | p.V366E | Missense | 10/14 | - | 1 |
2-98351732-A-T | c.1102A>T | p.I368F | Missense | 10/14 | - | 1 |
2-98351734-C-G | c.1104C>G | p.I368M | Missense | 10/14 | - | 1 |
2-98351735-AA-GC | c.1105_1106delinsGC | p.K369A | Missense | 10/14 | - | 11 |
2-98351736-A-G | c.1106A>G | p.K369R | Missense | 10/14 | - | 4 |
2-98351736-AG-GC | c.1106_1107delinsGC | p.K369S | Missense | 10/14 | - | 1 |
2-98351737-G-T | c.1107G>T | p.K369N | Missense | 10/14 | - | 1 |
2-98351741-C-A | c.1111C>A | p.L371M | Missense | 10/14 | - | 4 |
2-98351741-C-T | c.1111C>T | p.L371= | Synonymous | 10/14 | - | 1 |
2-98351743-G-A | c.1113G>A | p.L371= | Synonymous | 10/14 | - | 1 |
2-98351743-G-C | c.1113G>C | p.L371= | Synonymous | 10/14 | - | 1 |
2-98351743-G-T | c.1113G>T | p.L371= | Synonymous | 10/14 | - | 1 |
2-98351749-G-A | c.1119G>A | p.Q373= | Synonymous | 10/14 | - | 1 |
2-98351754-C-T | c.1124C>T | p.T375M | Missense | 10/14 | - | 6 |
2-98351755-G-A | c.1125G>A | p.T375= | Synonymous | 10/14 | - | 3 |
2-98351755-G-C | c.1125G>C | p.T375= | Synonymous | 10/14 | - | 2 |
2-98351755-G-T | c.1125G>T | p.T375= | Synonymous | 10/14 | - | 2 |
2-98351756-G-A | c.1126G>A | p.E376K | Missense | 10/14 | - | 2 |
2-98351756-G-T | c.1126G>T | p.E376* | Nonsense | 10/14 | - | 1 |
2-98351759-AA-GC | c.1129_1130delinsGC | p.K377A | Missense | 10/14 | - | 1 |
2-98351760-A-G | c.1130A>G | p.K377R | Missense | 10/14 | - | 1 |
2-98351761-G-C | c.1131G>C | p.K377N | Missense | 10/14 | - | 1 |
2-98351761-G-T | c.1131G>T | p.K377N | Missense | 10/14 | - | 1 |
2-98351762-G-A | c.1132G>A | p.A378T | Missense | 10/14 | - | 1 |
2-98351763-C-T | c.1133C>T | p.A378V | Missense | 10/14 | - | 1 |
2-98351765-GA-TG | c.1135_1136delinsTG | p.D379C | Missense | 10/14 | - | 1 |
2-98351769-C-A | c.1139C>A | p.T380K | Missense | 10/14 | - | 3 |
2-98351769-C-T | c.1139C>T | p.T380M | Missense | 10/14 | - | 1 |
2-98351770-G-A | c.1140G>A | p.T380= | Synonymous | 10/14 | - | 2 |
2-98351770-G-C | c.1140G>C | p.T380= | Synonymous | 10/14 | - | 2 |
2-98351770-G-T | c.1140G>T | p.T380= | Synonymous | 10/14 | - | 2 |
2-98351771-G-A | c.1141G>A | p.E381K | Missense | 10/14 | - | 1 |
2-98351783-C-A | c.1153C>A | p.R385S | Missense | 10/14 | - | 2 |
2-98351783-C-T | c.1153C>T | p.R385C | Missense | 10/14 | - | 3 |
2-98351784-G-A | c.1154G>A | p.R385H | Missense | 10/14 | - | 1 |
2-98351785-C-A | c.1155C>A | p.R385= | Synonymous | 10/14 | - | 3 |
2-98351785-C-G | c.1155C>G | p.R385= | Synonymous | 10/14 | - | 4 |
2-98351785-C-T | c.1155C>T | p.R385= | Synonymous | 10/14 | - | 4 |
2-98351786-G-A | c.1156G>A | p.E386K | Missense | 10/14 | - | 4 |
2-98351786-G-C | c.1156G>C | p.E386Q | Missense | 10/14 | - | 1 |
2-98351789-G-C | c.1159G>C | p.A387P | Missense | 10/14 | - | 1 |
2-98351790-C-T | c.1160C>T | p.A387V | Missense | 10/14 | - | 2 |
2-98351791-G-A | c.1161G>A | p.A387= | Synonymous | 10/14 | - | 3 |
2-98351791-G-C | c.1161G>C | p.A387= | Synonymous | 10/14 | - | 2 |
2-98351791-G-T | c.1161G>T | p.A387= | Synonymous | 10/14 | - | 2 |
2-98351794-G-T | c.1164G>T | p.Q388H | Missense | 10/14 | - | 4 |
2-98351795-A-G | c.1165A>G | p.I389V | Missense | 10/14 | - | 2 |
2-98351799-T-C | c.1169T>C | p.M390T | Missense | 10/14 | - | 1 |
2-98351803-C-A | c.1173C>A | p.H391Q | Missense | 10/14 | - | 1 |
2-98351804-C-A | c.1174C>A | p.Q392K | Missense | 10/14 | - | 3 |
2-98351805-A-T | c.1175A>T | p.Q392L | Missense | 10/14 | - | 1 |
2-98351812-C-T | c.1182C>T | p.D394= | Synonymous | 10/14 | - | 2 |
2-98351815-C-A | c.1185C>A | p.N395K | Missense | 10/14 | - | 3 |
2-98351815-C-G | c.1185C>G | p.N395K | Missense | 10/14 | - | 2 |
2-98351817-C-T | c.1187C>T | p.P396L | Missense | 10/14 | - | 3 |
2-98351820-A-G | c.1190A>G | p.Y397C | Missense | 10/14 | - | 2 |
2-98351820-A-T | c.1190A>T | p.Y397F | Missense | 10/14 | - | 3 |
2-98351822-A-T | c.1192A>T | p.I398F | Missense | 10/14 | - | 1 |
2-98351823-T-G | c.1193T>G | p.I398S | Missense | 10/14 | - | 1 |
2-98351824-C-A | c.1194C>A | p.I398= | Synonymous | 10/14 | - | 5 |
2-98351824-C-T | c.1194C>T | p.I398= | Synonymous | 10/14 | - | 5 |
2-98351825-G-A | c.1195G>A | p.V399M | Missense | 10/14 | - | 1 |
2-98351825-G-C | c.1195G>C | p.V399L | Missense | 10/14 | - | 1 |
2-98351828-C-T | c.1198C>T | p.R400W | Missense | 10/14 | - | 1 |
2-98351830-G-A | c.1200G>A | p.R400= | Synonymous | 10/14 | - | 1 |
2-98351834-A-C | c.1204A>C | p.I402L | Missense | 10/14 | - | 2 |
2-98351834-A-G | c.1204A>G | p.I402V | Missense | 10/14 | - | 2 |
2-98351840-G-A | c.1210G>A | p.V404I | Missense | 10/14 | - | 5 |
2-98351843-TG-GT | c.1213_1214delinsGT | p.C405V | Missense | 10/14 | - | 3 |
2-98351845-C-T | c.1215C>T | p.C405= | Synonymous | 10/14 | - | 1 |
2-98351846-C-G | c.1216C>G | p.Q406E | Missense | 10/14 | - | 1 |
2-98351847-A-T | c.1217A>T | p.Q406L | Missense | 10/14 | - | 1 |
2-98351849-G-A | c.1219G>A | p.A407T | Missense | 10/14 | - | 1 |
2-98351849-G-T | c.1219G>T | p.A407S | Missense | 10/14 | - | 1 |
2-98351851-C-A | c.1221C>A | p.A407= | Synonymous | 10/14 | - | 1 |
2-98351851-C-G | c.1221C>G | p.A407= | Synonymous | 10/14 | - | 1 |
2-98351851-C-T | c.1221C>T | p.A407= | Synonymous | 10/14 | - | 2 |
2-98351852-G-A | c.1222G>A | p.E408K | Missense | 10/14 | - | 4 |
2-98351852-G-T | c.1222G>T | p.E408* | Nonsense | 10/14 | - | 1 |
2-98351856-C-G | c.1226C>G | p.A409G | Missense | 10/14 | - | 1 |
2-98351856-C-T | c.1226C>T | p.A409V | Missense | 10/14 | - | 1 |
2-98351858-C-T | c.1228C>T | p.L410F | Missense | 10/14 | - | 5 |
2-98351859-T-C | c.1229T>C | p.L410P | Missense | 10/14 | - | 1 |
2-98351867-G-A | c.1237G>A | p.V413I | Missense | 10/14 | - | 1 |
2-98351870-AT-GC | c.1240_1241delinsGC | p.M414A | Missense | 10/14 | - | 2 |
2-98351872-G-A | c.1242G>A | p.M414I | Missense | 10/14 | - | 1 |
2-98351873-G-C | c.1243G>C | p.E415Q | Missense | 10/14 | - | 1 |
2-98351876-A-AT | c.1247dup | p.M416Ifs*46 | Frameshift | 10/14 | - | 1 |
2-98351880-C-T | c.1250C>T | p.A417V | Missense | 10/14 | - | 1 |
2-98351881-T-A | c.1251T>A | p.A417= | Synonymous | 10/14 | - | 1 |
2-98351881-T-C | c.1251T>C | p.A417= | Synonymous | 10/14 | - | 1 |
2-98351881-T-G | c.1251T>G | p.A417= | Synonymous | 10/14 | - | 1 |
2-98351882-G-A | c.1252G>A | p.G418R | Missense | 10/14 | - | 2 |
2-98351882-G-C | c.1252G>C | p.G418R | Missense | 10/14 | - | 2 |
2-98351886-G-A | c.1256G>A | p.G419D | Missense | 10/14 | - | 1 |
2-98351887-C-A | c.1257C>A | p.G419= | Synonymous | 10/14 | - | 1 |
2-98351887-C-G | c.1257C>G | p.G419= | Synonymous | 10/14 | - | 1 |
2-98351887-C-T | c.1257C>T | p.G419= | Synonymous | 10/14 | - | 2 |
2-98351888-G-A | c.1258G>A | p.G420R | Missense | 10/14 | - | 1 |
2-98351888-G-C | c.1258G>C | p.G420R | Missense | 10/14 | - | 1 |
2-98351892-C-A | c.1262C>A | p.P421Q | Missense | 10/14 | - | 4 |
2-98351892-C-T | c.1262C>T | p.P421L | Missense | 10/14 | - | 1 |
2-98351893-G-A | c.1263G>A | p.P421= | Synonymous | 10/14 | - | 3 |
2-98351893-G-C | c.1263G>C | p.P421= | Synonymous | 10/14 | - | 2 |
2-98351893-G-T | c.1263G>T | p.P421= | Synonymous | 10/14 | - | 2 |
2-98351894-CT-AC | c.1264_1265delinsAC | p.L422T | Missense | 10/14 | - | 2 |
2-98351904-T-A | c.1274T>A | p.F425Y | Missense | 10/14 | - | 1 |
2-98351904-T-G | c.1274T>G | p.F425C | Missense | 10/14 | - | 2 |
2-98351906-C-T | c.1276C>T | p.L426= | Synonymous | 10/14 | - | 1 |
2-98351908-G-A | c.1278G>A | p.L426= | Synonymous | 10/14 | - | 1 |
2-98351908-G-C | c.1278G>C | p.L426= | Synonymous | 10/14 | - | 1 |
2-98351908-G-T | c.1278G>T | p.L426= | Synonymous | 10/14 | - | 1 |
2-98351910-T-A | c.1280T>A | p.V427D | Missense | 10/14 | - | 1 |
2-98351912-G-A | c.1282G>A | p.G428S | Missense | 10/14 | - | 1 |
2-98351912-G-T | c.1282G>T | p.G428C | Missense | 10/14 | - | 2 |
2-98351914-C-A | c.1284C>A | p.G428= | Synonymous | 10/14 | - | 1 |
2-98351914-C-G | c.1284C>G | p.G428= | Synonymous | 10/14 | - | 1 |
2-98351914-C-T | c.1284C>T | p.G428= | Synonymous | 10/14 | - | 1 |
2-98351917-G-A | c.1287G>A | p.K429= | Synonymous | 10/14 | - | 4 |
2-98351918-A-T | c.1288A>T | p.R430W | Missense | 10/14 | - | 2 |
2-98351986-T-C | c.1289+67T>C | - | IntronicSNV | - | 10/13 | 5 |
2-98353670-C-T | c.1290-266C>T | - | IntronicSNV | - | 10/13 | 1 |
2-98353847-C-A | c.1290-89C>A | - | IntronicSNV | - | 10/13 | 4 |
2-98353847-C-T | c.1290-89C>T | - | IntronicSNV | - | 10/13 | 4 |
2-98353937-G-A | c.1291G>A | p.E431K | Missense | 11/14 | - | 1 |
2-98353937-G-GA | c.1292dup | p.E432Gfs*30 | Frameshift | 11/14 | - | 1 |
2-98353940-G-A | c.1294G>A | p.E432K | Missense | 11/14 | - | 1 |
2-98353951-G-T | c.1305G>T | p.V435= | Synonymous | 11/14 | - | 1 |
2-98353952-A-C | c.1306A>C | p.S436R | Missense | 11/14 | - | 1 |
2-98353954-C-A | c.1308C>A | p.S436R | Missense | 11/14 | - | 1 |
2-98353954-C-G | c.1308C>G | p.S436R | Missense | 11/14 | - | 1 |
2-98353954-C-T | c.1308C>T | p.S436= | Synonymous | 11/14 | - | 1 |
2-98353964-G-A | c.1318G>A | p.E440K | Missense | 11/14 | - | 2 |
2-98353968-T-G | c.1322T>G | p.L441R | Missense | 11/14 | - | 1 |
2-98353973-C-T | c.1327C>T | p.H443Y | Missense | 11/14 | - | 1 |
2-98353975-C-A | c.1329C>A | p.H443Q | Missense | 11/14 | - | 1 |
2-98353983-C-A | c.1337C>A | p.S446Y | Missense | 11/14 | - | 1 |
2-98353986-T-C | c.1340T>C | p.M447T | Missense | 11/14 | - | 1 |
2-98353988-G-A | c.1342G>A | p.G448R | Missense | 11/14 | - | 1 |
2-98353989-G-A | c.1343G>A | p.G448E | Missense | 11/14 | - | 4 |
2-98353996-G-T | c.1350G>T | p.K450N | Missense | 11/14 | - | 2 |
2-98353999-C-A | c.1353C>A | p.Y451* | Nonsense | 11/14 | - | 2 |
2-98353999-C-G | c.1353C>G | p.Y451* | Nonsense | 11/14 | - | 2 |
2-98354001-T-A | c.1355T>A | p.L452Q | Missense | 11/14 | - | 1 |
2-98354001-T-G | c.1355T>G | p.L452R | Missense | 11/14 | - | 3 |
2-98354000-C-T | c.1354C>T | p.L452= | Synonymous | 11/14 | - | 1 |
2-98354002-G-A | c.1356G>A | p.L452= | Synonymous | 11/14 | - | 4 |
2-98354002-G-C | c.1356G>C | p.L452= | Synonymous | 11/14 | - | 1 |
2-98354002-G-T | c.1356G>T | p.L452= | Synonymous | 11/14 | - | 1 |
2-98354011-G-A | c.1365G>A | p.K455= | Synonymous | 11/14 | - | 1 |
2-98354013-A-G | c.1367A>G | p.N456S | Missense | 11/14 | - | 1 |
2-98354025-G-A | c.1379G>A | p.R460H | Missense | 11/14 | - | 1 |
2-98354027-G-A | c.1381G>A | p.D461N | Missense | 11/14 | - | 2 |
2-98354030-C-A | c.1384C>A | p.L462M | Missense | 11/14 | - | 2 |
2-98354031-T-A | c.1385T>A | p.L462Q | Missense | 11/14 | - | 2 |
2-98354034-C-A | c.1388C>A | p.A463E | Missense | 11/14 | - | 1 |
2-98354034-C-T | c.1388C>T | p.A463V | Missense | 11/14 | - | 3 |
2-98354036-G-T | c.1390G>T | p.A464S | Missense | 11/14 | - | 1 |
2-98354039-C-T | c.1393C>T | p.R465C | Missense | 11/14 | - | 8 |
2-98354040-G-A | c.1394G>A | p.R465H | Missense | 11/14 | - | 10 |
2-98354043-A-G | c.1397A>G | p.N466S | Missense | 11/14 | - | 1 |
2-98354044-C-T | c.1398C>T | p.N466= | Synonymous | 11/14 | - | 2 |
2-98354045-G-A | c.1399G>A | p.V467I | Missense | 11/14 | - | 1 |
2-98354045-G-C | c.1399G>C | p.V467L | Missense | 11/14 | - | 1 |
2-98354047-C-A | c.1401C>A | p.V467= | Synonymous | 11/14 | - | 1 |
2-98354047-C-G | c.1401C>G | p.V467= | Synonymous | 11/14 | - | 1 |
2-98354047-C-T | c.1401C>T | p.V467= | Synonymous | 11/14 | - | 1 |
2-98354048-C-T | c.1402C>T | p.L468= | Synonymous | 11/14 | - | 1 |
2-98354050-G-A | c.1404G>A | p.L468= | Synonymous | 11/14 | - | 1 |
2-98354050-G-C | c.1404G>C | p.L468= | Synonymous | 11/14 | - | 1 |
2-98354050-G-T | c.1404G>T | p.L468= | Synonymous | 11/14 | - | 2 |
2-98354051-C-T | c.1405C>T | p.L469= | Synonymous | 11/14 | - | 1 |
2-98354053-G-A | c.1407G>A | p.L469= | Synonymous | 11/14 | - | 1 |
2-98354053-G-C | c.1407G>C | p.L469= | Synonymous | 11/14 | - | 1 |
2-98354053-G-T | c.1407G>T | p.L469= | Synonymous | 11/14 | - | 1 |
2-98354054-G-T | c.1408G>T | p.V470F | Missense | 11/14 | - | 2 |
2-98354058-A-G | c.1412A>G | p.N471S | Missense | 11/14 | - | 1 |
2-98354060-C-A | c.1414C>A | p.R472= | Synonymous | 11/14 | - | 1 |
2-98354060-C-T | c.1414C>T | p.R472W | Missense | 11/14 | - | 2 |
2-98354062-G-A | c.1416G>A | p.R472= | Synonymous | 11/14 | - | 1 |
2-98354062-G-C | c.1416G>C | p.R472= | Synonymous | 11/14 | - | 1 |
2-98354062-G-T | c.1416G>T | p.R472= | Synonymous | 11/14 | - | 1 |
2-98354061-G-C | c.1415G>C | p.R472P | Missense | 11/14 | - | 1 |
2-98354068-C-A | c.1422C>A | p.Y474* | Nonsense | 11/14 | - | 1 |
2-98354068-C-T | c.1422C>T | p.Y474= | Synonymous | 11/14 | - | 3 |
2-98354069-G-A | c.1423G>A | p.A475T | Missense | 11/14 | - | 2 |
2-98354069-G-T | c.1423G>T | p.A475S | Missense | 11/14 | - | 1 |
2-98354078-A-G | c.1432A>G | p.S478G | Missense | 11/14 | - | 1 |
2-98354081-G-A | c.1435G>A | p.D479N | Missense | 11/14 | - | 2 |
2-98354084-T-C | c.1438T>C | p.F480L | Missense | 11/14 | - | 1 |
2-98354086-T-A | c.1440T>A | p.F480L | Missense | 11/14 | - | 1 |
2-98354086-T-G | c.1440T>G | p.F480L | Missense | 11/14 | - | 1 |
2-98354087-G-A | c.1441G>A | p.G481S | Missense | 11/14 | - | 1 |
2-98354093-T-A | c.1447T>A | p.S483T | Missense | 11/14 | - | 1 |
2-98354096-A-T | c.1450A>T | p.K484* | Nonsense | 11/14 | - | 1 |
2-98354098-A-G | c.1452A>G | p.K484= | Synonymous | 11/14 | - | 1 |
2-98354099-G-T | c.1453G>T | p.A485S | Missense | 11/14 | - | 3 |
2-98354108-G-A | c.1462G>A | p.A488T | Missense | 11/14 | - | 1 |
2-98354109-C-T | c.1463C>T | p.A488V | Missense | 11/14 | - | 1 |
2-98354112-A-G | c.1466A>G | p.D489G | Missense | 11/14 | - | 1 |
2-98354114-G-A | c.1468G>A | p.D490N | Missense | 11/14 | - | 3 |
2-98354120-TAC-GAG | c.1474_1476delinsGAG | p.Y492E | Missense | 11/14 | - | 1 |
2-98354120-T-C | c.1474T>C | p.Y492H | Missense | 11/14 | - | 1 |
2-98354121-A-G | c.1475A>G | p.Y492C | Missense | 11/14 | - | 2 |
2-98354121-A-T | c.1475A>T | p.Y492F | Missense | 11/14 | - | 5 |
2-98354122-C-A | c.1476C>A | p.Y492* | Nonsense | 11/14 | - | 3 |
2-98354122-C-G | c.1476C>G | p.Y492* | Nonsense | 11/14 | - | 3 |
2-98354122-C-T | c.1476C>T | p.Y492= | Synonymous | 11/14 | - | 1 |
2-98354123-TAC-GAG | c.1477_1479delinsGAG | p.Y493E | Missense | 11/14 | - | 1 |
2-98354124-A-T | c.1478A>T | p.Y493F | Missense | 11/14 | - | 7 |
2-98354125-C-A | c.1479C>A | p.Y493* | Nonsense | 11/14 | - | 2 |
2-98354125-C-G | c.1479C>G | p.Y493* | Nonsense | 11/14 | - | 2 |
2-98354127-C-A | c.1481C>A | p.T494N | Missense | 11/14 | - | 1 |
2-98354139-G-T | c.1482+11G>T | - | IntronicSNV | - | 11/13 | 6 |
2-98354221-C-T | c.1484C>T | p.A495V | Missense | 12/14 | - | 2 |
2-98354223-CGC-TGA | c.1486_1488delinsTGA | p.R496* | Nonsense | 12/14 | - | 1 |
2-98354224-G-A | c.1487G>A | p.R496H | Missense | 12/14 | - | 5 |
2-98354227-C-T | c.1490C>T | p.S497L | Missense | 12/14 | - | 3 |
2-98354230-C-T | c.1493C>T | p.A498V | Missense | 12/14 | - | 1 |
2-98354236-A-G | c.1499A>G | p.K500R | Missense | 12/14 | - | 1 |
2-98354239-G-T | c.1502G>T | p.W501L | Missense | 12/14 | - | 1 |
2-98354240-G-GGC | c.1503_1504insGC | p.P502Afs*43 | Frameshift | 12/14 | - | 1 |
2-98354242-C-T | c.1505C>T | p.P502L | Missense | 12/14 | - | 10 |
2-98354243-G-A | c.1506G>A | p.P502= | Synonymous | 12/14 | - | 1 |
2-98354244-C-T | c.1507C>T | p.L503F | Missense | 12/14 | - | 1 |
2-98354246-C-A | c.1509C>A | p.L503= | Synonymous | 12/14 | - | 1 |
2-98354246-C-G | c.1509C>G | p.L503= | Synonymous | 12/14 | - | 1 |
2-98354246-C-T | c.1509C>T | p.L503= | Synonymous | 12/14 | - | 1 |
2-98354245-TCAAGTGGTACGCA-T | c.1510_1522del | p.K504Pfs*36 | Frameshift | 12/14 | - | 1 |
2-98354252-G-T | c.1515G>T | p.W505C | Missense | 12/14 | - | 2 |
2-98354253-T-C | c.1516T>C | p.Y506H | Missense | 12/14 | - | 2 |
2-98354255-C-T | c.1518C>T | p.Y506= | Synonymous | 12/14 | - | 2 |
2-98354256-G-A | c.1519G>A | p.A507T | Missense | 12/14 | - | 9 |
2-98354256-G-T | c.1519G>T | p.A507S | Missense | 12/14 | - | 1 |
2-98354257-C-A | c.1520C>A | p.A507E | Missense | 12/14 | - | 1 |
2-98354257-C-T | c.1520C>T | p.A507V | Missense | 12/14 | - | 4 |
2-98354260-C-A | c.1523C>A | p.P508H | Missense | 12/14 | - | 2 |
2-98354261-C-A | c.1524C>A | p.P508= | Synonymous | 12/14 | - | 1 |
2-98354261-C-G | c.1524C>G | p.P508= | Synonymous | 12/14 | - | 1 |
2-98354261-C-T | c.1524C>T | p.P508= | Synonymous | 12/14 | - | 2 |
2-98354262-G-A | c.1525G>A | p.E509K | Missense | 12/14 | - | 7 |
2-98354262-G-T | c.1525G>T | p.E509* | Nonsense | 12/14 | - | 1 |
2-98354267-C-T | c.1530C>T | p.C510= | Synonymous | 12/14 | - | 1 |
2-98354270-C-A | c.1533C>A | p.I511= | Synonymous | 12/14 | - | 2 |
2-98354270-C-T | c.1533C>T | p.I511= | Synonymous | 12/14 | - | 1 |
2-98354273-C-A | c.1536C>A | p.N512K | Missense | 12/14 | - | 1 |
2-98354273-C-G | c.1536C>G | p.N512K | Missense | 12/14 | - | 1 |
2-98354277-CGC-GAG | c.1540_1542delinsGAG | p.R514E | Missense | 12/14 | - | 1 |
2-98354277-CG-GC | c.1540_1541delinsGC | p.R514A | Missense | 12/14 | - | 1 |
2-98354277-C-T | c.1540C>T | p.R514C | Missense | 12/14 | - | 6 |
2-98354278-G-A | c.1541G>A | p.R514H | Missense | 12/14 | - | 1 |
2-98354283-T-C | c.1546T>C | p.F516L | Missense | 12/14 | - | 2 |
2-98354285-C-G | c.1548C>G | p.F516L | Missense | 12/14 | - | 2 |
2-98354284-T-C | c.1547T>C | p.F516S | Missense | 12/14 | - | 4 |
2-98354284-TC-GG | c.1547_1548delinsGG | p.F516W | Missense | 12/14 | - | 1 |
2-98354285-C-A | c.1548C>A | p.F516L | Missense | 12/14 | - | 3 |
2-98354286-T-A | c.1549T>A | p.S517T | Missense | 12/14 | - | 1 |
2-98354288-C-CT | c.1551_1552insT | p.S518* | Nonsense | 12/14 | - | 1 |
2-98354289-A-C | c.1552A>C | p.S518R | Missense | 12/14 | - | 5 |
2-98354291-C-A | c.1554C>A | p.S518R | Missense | 12/14 | - | 7 |
2-98354291-C-G | c.1554C>G | p.S518R | Missense | 12/14 | - | 5 |
2-98354293-G-A | c.1556G>A | p.R519H | Missense | 12/14 | - | 2 |
2-98354293-G-C | c.1556G>C | p.R519P | Missense | 12/14 | - | 1 |
2-98354293-G-T | c.1556G>T | p.R519L | Missense | 12/14 | - | 1 |
2-98354295-AG-GC | c.1558_1559delinsGC | p.S520A | Missense | 12/14 | - | 1 |
2-98354296-G-T | c.1559G>T | p.S520I | Missense | 12/14 | - | 2 |
2-98354297-C-T | c.1560C>T | p.S520= | Synonymous | 12/14 | - | 3 |
2-98354298-G-A | c.1561G>A | p.D521N | Missense | 12/14 | - | 10 |
2-98354300-T-A | c.1563T>A | p.D521E | Missense | 12/14 | - | 1 |
2-98354300-T-C | c.1563T>C | p.D521= | Synonymous | 12/14 | - | 1 |
2-98354300-T-G | c.1563T>G | p.D521E | Missense | 12/14 | - | 1 |
2-98354305-G-T | c.1568G>T | p.W523L | Missense | 12/14 | - | 3 |
2-98354307-A-G | c.1570A>G | p.S524G | Missense | 12/14 | - | 2 |
2-98354307-AG-GC | c.1570_1571delinsGC | p.S524A | Missense | 12/14 | - | 1 |
2-98354307-A-T | c.1570A>T | p.S524C | Missense | 12/14 | - | 1 |
2-98354308-G-C | c.1571G>C | p.S524T | Missense | 12/14 | - | 1 |
2-98354309-C-T | c.1572C>T | p.S524= | Synonymous | 12/14 | - | 1 |
2-98354311-A-T | c.1574A>T | p.Y525F | Missense | 12/14 | - | 1 |
2-98354313-G-A | c.1576G>A | p.G526R | Missense | 12/14 | - | 1 |
2-98354313-G-C | c.1576G>C | p.G526R | Missense | 12/14 | - | 1 |
2-98354314-G-C | c.1577G>C | p.G526A | Missense | 12/14 | - | 1 |
2-98354317-T-G | c.1580T>G | p.V527G | Missense | 12/14 | - | 1 |
2-98354318-C-A | c.1581C>A | p.V527= | Synonymous | 12/14 | - | 1 |
2-98354318-C-G | c.1581C>G | p.V527= | Synonymous | 12/14 | - | 1 |
2-98354318-C-T | c.1581C>T | p.V527= | Synonymous | 12/14 | - | 1 |
2-98354319-A-G | c.1582A>G | p.T528A | Missense | 12/14 | - | 1 |
2-98354326-G-A | c.1589G>A | p.W530* | Nonsense | 12/14 | - | 1 |
2-98354326-G-T | c.1589G>T | p.W530L | Missense | 12/14 | - | 2 |
2-98354331-G-A | c.1594G>A | p.A532T | Missense | 12/14 | - | 1 |
2-98354332-C-T | c.1595C>T | p.A532V | Missense | 12/14 | - | 1 |
2-98354339-C-T | c.1602C>T | p.S534= | Synonymous | 12/14 | - | 3 |
2-98354342-C-T | c.1605C>T | p.Y535= | Synonymous | 12/14 | - | 2 |
2-98354343-G-A | c.1606G>A | p.G536S | Missense | 12/14 | - | 5 |
2-98354343-GG-AA | c.1606_1607delinsAA | p.G536N | Missense | 12/14 | - | 2 |
2-98354343-G-T | c.1606G>T | p.G536C | Missense | 12/14 | - | 1 |
2-98354344-G-A | c.1607G>A | p.G536D | Missense | 12/14 | - | 1 |
2-98354344-G-T | c.1607G>T | p.G536V | Missense | 12/14 | - | 3 |
2-98354350-A-G | c.1613A>G | p.K538R | Missense | 12/14 | - | 1 |
2-98354352-C-T | c.1615C>T | p.P539S | Missense | 12/14 | - | 1 |
2-98354353-C-A | c.1616C>A | p.P539H | Missense | 12/14 | - | 1 |
2-98354357-C-T | c.1620C>T | p.Y540= | Synonymous | 12/14 | - | 1 |
2-98354358-AA-GC | c.1621_1622delinsGC | p.K541A | Missense | 12/14 | - | 2 |
2-98354358-AAG-GAC | c.1621_1623delinsGAC | p.K541D | Missense | 12/14 | - | 1 |
2-98354366-C-T | c.1623+6C>T | - | IntronicSNV | - | 12/13 | 2 |
2-98354458-AA-GC | c.1624_1625delinsGC | p.K542A | Missense | 13/14 | - | 2 |
2-98354458-AAG-GAC | c.1624_1626delinsGAC | p.K542D | Missense | 13/14 | - | 1 |
2-98354463-G-A | c.1629G>A | p.M543I | Missense | 13/14 | - | 4 |
2-98354464-AA-GC | c.1630_1631delinsGC | p.K544A | Missense | 13/14 | - | 1 |
2-98354465-A-G | c.1631A>G | p.K544R | Missense | 13/14 | - | 1 |
2-98354468-G-T | c.1634G>T | p.G545V | Missense | 13/14 | - | 1 |
2-98354471-C-T | c.1637C>T | p.P546L | Missense | 13/14 | - | 3 |
2-98354479-A-G | c.1645A>G | p.M549V | Missense | 13/14 | - | 1 |
2-98354483-C-A | c.1649C>A | p.A550D | Missense | 13/14 | - | 1 |
2-98354490-C-T | c.1656C>T | p.I552= | Synonymous | 13/14 | - | 1 |
2-98354491-G-A | c.1657G>A | p.E553K | Missense | 13/14 | - | 1 |
2-98354497-G-A | c.1663G>A | p.G555S | Missense | 13/14 | - | 1 |
2-98354503-C-A | c.1669C>A | p.R557= | Synonymous | 13/14 | - | 1 |
2-98354503-C-T | c.1669C>T | p.R557W | Missense | 13/14 | - | 7 |
2-98354504-G-A | c.1670G>A | p.R557Q | Missense | 13/14 | - | 8 |
2-98354506-A-G | c.1672A>G | p.M558V | Missense | 13/14 | - | 2 |
2-98354508-G-A | c.1674G>A | p.M558I | Missense | 13/14 | - | 2 |
2-98354509-G-A | c.1675G>A | p.E559K | Missense | 13/14 | - | 4 |
2-98354511-G-A | c.1677G>A | p.E559= | Synonymous | 13/14 | - | 13 |
2-98354512-T-C | c.1678T>C | p.C560R | Missense | 13/14 | - | 1 |
2-98354512-T-G | c.1678T>G | p.C560G | Missense | 13/14 | - | 1 |
2-98354513-G-A | c.1679G>A | p.C560Y | Missense | 13/14 | - | 1 |
2-98354515-CCA-TGT | c.1681_1683delinsTGT | p.P561C | Missense | 13/14 | - | 1 |
2-98354515-C-T | c.1681C>T | p.P561S | Missense | 13/14 | - | 1 |
2-98354516-C-G | c.1682C>G | p.P561R | Missense | 13/14 | - | 1 |
2-98354518-C-G | c.1684C>G | p.P562A | Missense | 13/14 | - | 1 |
2-98354524-T-A | c.1690T>A | p.C564S | Missense | 13/14 | - | 1 |
2-98354524-T-C | c.1690T>C | p.C564R | Missense | 13/14 | - | 6 |
2-98354524-TG-GC | c.1690_1691delinsGC | p.C564A | Missense | 13/14 | - | 1 |
2-98354525-G-C | c.1691G>C | p.C564S | Missense | 13/14 | - | 1 |
2-98354525-G-A | c.1691G>A | p.C564Y | Missense | 13/14 | - | 1 |
2-98354527-C-T | c.1693C>T | p.P565S | Missense | 13/14 | - | 1 |
2-98354528-C-G | c.1694C>G | p.P565R | Missense | 13/14 | - | 1 |
2-98354529-A-C | c.1695A>C | p.P565= | Synonymous | 13/14 | - | 1 |
2-98354529-A-G | c.1695A>G | p.P565= | Synonymous | 13/14 | - | 1 |
2-98354529-A-T | c.1695A>T | p.P565= | Synonymous | 13/14 | - | 1 |
2-98354531-C-T | c.1697C>T | p.P566L | Missense | 13/14 | - | 1 |
2-98354533-G-A | c.1699G>A | p.E567K | Missense | 13/14 | - | 6 |
2-98354536-C-G | c.1702C>G | p.L568V | Missense | 13/14 | - | 1 |
2-98354541-C-T | c.1707C>T | p.Y569= | Synonymous | 13/14 | - | 5 |
2-98354542-G-A | c.1708G>A | p.A570T | Missense | 13/14 | - | 2 |
2-98354543-CA-AC | c.1709_1710delinsAC | p.A570D | Missense | 13/14 | - | 1 |
2-98354543-C-T | c.1709C>T | p.A570V | Missense | 13/14 | - | 3 |
2-98354548-A-C | c.1714A>C | p.M572L | Missense | 13/14 | - | 2 |
2-98354548-A-T | c.1714A>T | p.M572L | Missense | 13/14 | - | 4 |
2-98354550-G-A | c.1716G>A | p.M572I | Missense | 13/14 | - | 1 |
2-98354550-G-C | c.1716G>C | p.M572I | Missense | 13/14 | - | 1 |
2-98354550-G-T | c.1716G>T | p.M572I | Missense | 13/14 | - | 1 |
2-98354552-GTGACTGCTGGATC-G | c.1720_1732del | p.D574Tfs*10 | Frameshift | 13/14 | - | 1 |
2-98354561-G-T | c.1727G>T | p.W576L | Missense | 13/14 | - | 1 |
2-98354565-C-G | c.1731C>G | p.I577M | Missense | 13/14 | - | 1 |
2-98354565-C-T | c.1731C>T | p.I577= | Synonymous | 13/14 | - | 2 |
2-98354571-G-A | c.1736+1G>A | - | IntronicSNV | - | 13/13 | 1 |
2-98355663-C-A | c.1737-175C>A | - | IntronicSNV | - | 13/13 | 1 |
2-98355663-C-T | c.1737-175C>T | - | IntronicSNV | - | 13/13 | 1 |
2-98355835-C-T | c.1737-3C>T | - | IntronicSNV | - | 13/13 | 1 |
2-98355848-C-A | c.1747C>A | p.R583S | Missense | 14/14 | - | 1 |
2-98355848-CG-GC | c.1747_1748delinsGC | p.R583A | Missense | 14/14 | - | 1 |
2-98355848-C-T | c.1747C>T | p.R583C | Missense | 14/14 | - | 3 |
2-98355849-G-A | c.1748G>A | p.R583H | Missense | 14/14 | - | 1 |
2-98355850-C-A | c.1749C>A | p.R583= | Synonymous | 14/14 | - | 1 |
2-98355850-C-G | c.1749C>G | p.R583= | Synonymous | 14/14 | - | 1 |
2-98355850-C-T | c.1749C>T | p.R583= | Synonymous | 14/14 | - | 1 |
2-98355851-C-G | c.1750C>G | p.P584A | Missense | 14/14 | - | 1 |
2-98355851-C-T | c.1750C>T | p.P584S | Missense | 14/14 | - | 1 |
2-98355852-C-T | c.1751C>T | p.P584L | Missense | 14/14 | - | 2 |
2-98355854-G-A | c.1753G>A | p.D585N | Missense | 14/14 | - | 2 |
2-98355854-G-C | c.1753G>C | p.D585H | Missense | 14/14 | - | 1 |
2-98355859-C-T | c.1758C>T | p.F586= | Synonymous | 14/14 | - | 1 |
2-98355860-C-A | c.1759C>A | p.L587M | Missense | 14/14 | - | 1 |
2-98355864-C-A | c.1763C>A | p.T588N | Missense | 14/14 | - | 3 |
2-98355866-G-A | c.1765G>A | p.V589M | Missense | 14/14 | - | 2 |
2-98355866-GTG-ATC | c.1765_1767delinsATC | p.V589I | Missense | 14/14 | - | 1 |
2-98355868-G-A | c.1767G>A | p.V589= | Synonymous | 14/14 | - | 1 |
2-98355868-G-C | c.1767G>C | p.V589= | Synonymous | 14/14 | - | 1 |
2-98355868-G-T | c.1767G>T | p.V589= | Synonymous | 14/14 | - | 1 |
2-98355873-A-C | c.1772A>C | p.Q591P | Missense | 14/14 | - | 1 |
2-98355875-C-T | c.1774C>T | p.R592C | Missense | 14/14 | - | 3 |
2-98355876-G-A | c.1775G>A | p.R592H | Missense | 14/14 | - | 2 |
2-98355881-C-G | c.1780C>G | p.R594G | Missense | 14/14 | - | 1 |
2-98355881-CG-AA | c.1780_1781delinsAA | p.R594K | Missense | 14/14 | - | 1 |
2-98355881-C-T | c.1780C>T | p.R594* | Nonsense | 14/14 | - | 1 |
2-98355882-G-A | c.1781G>A | p.R594Q | Missense | 14/14 | - | 4 |
2-98355884-G-A | c.1783G>A | p.A595T | Missense | 14/14 | - | 2 |
2-98355884-G-T | c.1783G>T | p.A595S | Missense | 14/14 | - | 2 |
2-98355886-C-A | c.1785C>A | p.A595= | Synonymous | 14/14 | - | 1 |
2-98355886-C-G | c.1785C>G | p.A595= | Synonymous | 14/14 | - | 1 |
2-98355886-C-T | c.1785C>T | p.A595= | Synonymous | 14/14 | - | 1 |
2-98355896-A-G | c.1795A>G | p.S599G | Missense | 14/14 | - | 1 |
2-98355903-C-T | c.1802C>T | p.A601V | Missense | 14/14 | - | 3 |
2-98355906-G-T | c.1805G>T | p.S602I | Missense | 14/14 | - | 1 |
2-98355911-G-A | c.1810G>A | p.V604M | Missense | 14/14 | - | 1 |
2-98355914-G-C | c.1813G>C | p.E605Q | Missense | 14/14 | - | 1 |
2-98355920-C-T | c.1819C>T | p.P607S | Missense | 14/14 | - | 1 |
2-98355923-C-G | c.1822C>G | p.P608A | Missense | 14/14 | - | 1 |
2-98355923-C-T | c.1822C>T | p.P608S | Missense | 14/14 | - | 3 |
2-98355927-G-A | c.1826G>A | p.G609D | Missense | 14/14 | - | 1 |
2-98355934-A-T | c.1833A>T | p.T611= | Synonymous | 14/14 | - | 1 |
2-98355936-A-G | c.1835A>G | p.Q612R | Missense | 14/14 | - | 1 |
2-98355941-G-A | c.1840G>A | p.A614T | Missense | 14/14 | - | 1 |
2-98355944-G-A | c.1843G>A | p.E615K | Missense | 14/14 | - | 1 |
2-98355945-A-C | c.1844A>C | p.E615A | Missense | 14/14 | - | 1 |
2-98355945-A-T | c.1844A>T | p.E615V | Missense | 14/14 | - | 1 |
2-98355953-TG-CA | c.1852_1853inv | p.C618H | Missense | 14/14 | - | 1 |
2-98355967-C-A | c.*6C>A | - | 3-UTRSNV | 14/14 | - | 1 |
2-98355967-C-G | c.*6C>G | - | 3-UTRSNV | 14/14 | - | 1 |
2-98355967-C-T | c.*6C>T | - | 3-UTRSNV | 14/14 | - | 1 |
2-98355990-G-A | c.*29G>A | - | 3-UTRSNV | 14/14 | - | 7 |
2-98356250-G-C | c.*289G>C | - | 3-UTRSNV | 14/14 | - | 4 |