Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
11-116619051-G-A | c.*147C>T | - | 3-UTRSNV | 10/10 | - | 9 |
11-116619073-C-G | c.*125G>C | - | 3-UTRSNV | 10/10 | - | 47 |
11-116619073-C-T | c.*125G>A | - | 3-UTRSNV | 10/10 | - | 47 |
11-116619200-A-G | c.1858T>C | p.*620Glnext*3 | Missense | 10/10 | - | 1 |
11-116619242-C-T | c.1816G>A | p.Ala606Thr | Missense | 10/10 | - | 1 |
11-116619256-A-G | c.1802T>C | p.Leu601Pro | Missense | 10/10 | - | 1 |
11-116619390-A-T | c.1767-99T>A | - | IntronicSNV | - | 9/9 | 1 |
11-116620129-G-A | c.1767-838C>T | - | IntronicSNV | - | 9/9 | 1 |
11-116620256-C-A | c.1767-965G>T | - | IntronicSNV | - | 9/9 | 11 |
11-116620670-T-C | c.1767-1379A>G | - | IntronicSNV | - | 9/9 | 1 |
11-116620693-C-T | c.1767-1402G>A | - | IntronicSNV | - | 9/9 | 2 |
11-116620796-C-T | c.1767-1505G>A | - | IntronicSNV | - | 9/9 | 2 |
11-116621770-G-A | c.1767-2479C>T | - | IntronicSNV | - | 9/9 | 4 |
11-116621963-T-G | c.1767-2672A>C | - | IntronicSNV | - | 9/9 | 17 |
11-116622299-G-A | c.1767-3008C>T | - | IntronicSNV | - | 9/9 | 1 |
11-116622723-G-A | c.1767-3432C>T | - | IntronicSNV | - | 9/9 | 1 |
11-116622723-G-C | c.1767-3432C>G | - | IntronicSNV | - | 9/9 | 1 |
11-116622958-G-A | c.1767-3667C>T | - | IntronicSNV | - | 9/9 | 2 |
11-116623659-C-T | c.1766+4203G>A | - | IntronicSNV | - | 9/9 | 11 |
11-116624153-C-A | c.1766+3709G>T | - | IntronicSNV | - | 9/9 | 9 |
11-116624153-C-G | c.1766+3709G>C | - | IntronicSNV | - | 9/9 | 9 |
11-116624703-G-T | c.1766+3159C>A | - | IntronicSNV | - | 9/9 | 14 |
11-116624727-C-G | c.1766+3135G>C | - | IntronicSNV | - | 9/9 | 7 |
11-116625332-T-C | c.1766+2530A>G | - | IntronicSNV | - | 9/9 | 2 |
11-116625362-G-A | c.1766+2500C>T | - | IntronicSNV | - | 9/9 | 1 |
11-116625875-G-A | c.1766+1987C>T | - | IntronicSNV | - | 9/9 | 1 |
11-116625875-G-T | c.1766+1987C>A | - | IntronicSNV | - | 9/9 | 1 |
11-116626226-C-T | c.1766+1636G>A | - | IntronicSNV | - | 9/9 | 1 |
11-116626258-G-A | c.1766+1604C>T | - | IntronicSNV | - | 9/9 | 6 |
11-116626399-C-G | c.1766+1463G>C | - | IntronicSNV | - | 9/9 | 1 |
11-116626399-C-T | c.1766+1463G>A | - | IntronicSNV | - | 9/9 | 1 |
11-116627056-G-A | c.1766+806C>T | - | IntronicSNV | - | 9/9 | 2 |
11-116627097-G-A | c.1766+765C>T | - | IntronicSNV | - | 9/9 | 1 |
11-116627874-T-A | c.1754A>T | p.Asp585Val | Missense | 9/10 | - | 1 |
11-116628057-G-A | c.1685-114C>T | - | IntronicSNV | - | 8/9 | 2 |
11-116628271-C-T | c.1684+211G>A | - | IntronicSNV | - | 8/9 | 1 |
11-116628396-C-T | c.1684+86G>A | - | IntronicSNV | - | 8/9 | 1 |
11-116628401-T-C | c.1684+81A>G | - | IntronicSNV | - | 8/9 | 10 |
11-116628641-G-A | c.1525C>T | p.Gln509* | Nonsense | 8/10 | - | 1 |
11-116629093-C-T | c.1391G>A | p.Arg464Gln | Missense | 7/10 | - | 1 |
11-116629153-G-A | c.1361-30C>T | - | IntronicSNV | - | 6/9 | 2 |
11-116629799-C-T | c.1351G>A | p.Ala451Thr | Missense | 6/10 | - | 1 |
11-116629865-C-T | c.1285G>A | p.Gly429Arg | Missense | 6/10 | - | 1 |
11-116629905-G-A | c.1255-10C>T | - | IntronicSNV | - | 5/9 | 2 |
11-116629949-C-T | c.1255-54G>A | - | IntronicSNV | - | 5/9 | 4 |
11-116630600-C-T | c.1255-705G>A | - | IntronicSNV | - | 5/9 | 6 |
11-116631391-T-C | c.1254+60A>G | - | IntronicSNV | - | 5/9 | 6 |
11-116631463-A-T | c.1242T>A | p.Pro414Pro | Synonymous | 5/10 | - | 1 |
11-116631469-A-T | c.1236T>A | p.Ser412Arg | Missense | 5/10 | - | 1 |
11-116631482-G-A | c.1223C>T | p.Pro408Leu | Missense | 5/10 | - | 2 |
11-116631542-G-C | c.1163C>G | p.Ser388Cys | Missense | 5/10 | - | 2 |
11-116631582-A-G | c.1123T>C | p.Ser375Pro | Missense | 5/10 | - | 1 |
11-116631617-T-G | c.1088A>C | p.Gln363Pro | Missense | 5/10 | - | 1 |
11-116631644-G-A | c.1061C>T | p.Ser354Leu | Missense | 5/10 | - | 1 |
11-116631690-G-A | c.1037-22C>T | - | IntronicSNV | - | 4/9 | 6 |
11-116631707-T-A | c.1037-39A>T | - | IntronicSNV | - | 4/9 | 12 |
11-116631707-T-C | c.1037-39A>G | - | IntronicSNV | - | 4/9 | 12 |
11-116631786-A-T | c.1037-118T>A | - | IntronicSNV | - | 4/9 | 2 |
11-116631912-T-C | c.1037-244A>G | - | IntronicSNV | - | 4/9 | 1 |
11-116632500-C-T | c.1036+769G>A | - | IntronicSNV | - | 4/9 | 8 |
11-116632787-A-G | c.1036+482T>C | - | IntronicSNV | - | 4/9 | 1 |
11-116632956-C-T | c.1036+313G>A | - | IntronicSNV | - | 4/9 | 1 |
11-116632975-G-A | c.1036+294C>T | - | IntronicSNV | - | 4/9 | 1 |
11-116633346-T-A | c.959A>T | p.Tyr320Phe | Missense | 4/10 | - | 1 |
11-116633407-G-A | c.898C>T | p.Pro300Ser | Missense | 4/10 | - | 1 |
11-116633503-G-A | c.802C>T | p.Arg268Cys | Missense | 4/10 | - | 1 |
11-116633510-TCT-CAT | c.794_795delinsTG | p.Arg265Met | Missense | 4/10 | - | 1 |
11-116633511-C-T | c.794G>A | p.Arg265Lys | Missense | 4/10 | - | 1 |
11-116633539-G-A | c.766C>T | p.Leu256Phe | Missense | 4/10 | - | 1 |
11-116633554-T-G | c.751A>C | p.Thr251Pro | Missense | 4/10 | - | 1 |
11-116633575-C-T | c.730G>A | p.Val244Ile | Missense | 4/10 | - | 1 |
11-116633580-C-A | c.725G>T | p.Arg242Ile | Missense | 4/10 | - | 1 |
11-116633586-G-A | c.719C>T | p.Ser240Phe | Missense | 4/10 | - | 1 |
11-116633619-C-T | c.686G>A | p.Arg229Lys | Missense | 4/10 | - | 1 |
11-116633635-C-A | c.670G>T | p.Asp224Tyr | Missense | 4/10 | - | 1 |
11-116633689-G-A | c.616C>T | p.Pro206Ser | Missense | 4/10 | - | 1 |
11-116633721-T-G | c.584A>C | p.His195Pro | Missense | 4/10 | - | 1 |
11-116633758-C-T | c.547G>A | p.Asp183Asn | Missense | 4/10 | - | 1 |
11-116633768-CCT-TGT | c.536_537delinsCA | p.Arg179Thr | Missense | 4/10 | - | 1 |
11-116633772-C-T | c.533G>A | p.Arg178Lys | Missense | 4/10 | - | 1 |
11-116633772-CT-CA | c.532delinsT | p.Arg178Trp | Missense | 4/10 | - | 1 |
11-116633825-C-A | c.480G>T | p.Pro160Pro | Synonymous | 4/10 | - | 4 |
11-116633825-C-T | c.480G>A | p.Pro160Pro | Synonymous | 4/10 | - | 4 |
11-116633862-G-A | c.443C>T | p.Pro148Leu | Missense | 4/10 | - | 29 |
11-116633866-T-C | c.439A>G | p.Thr147Ala | Missense | 4/10 | - | 1 |
11-116633875-G-A | c.430C>T | p.Arg144Cys | Missense | 4/10 | - | 1 |
11-116633947-G-A | c.358C>T | p.Arg120Cys | Missense | 4/10 | - | 13 |
11-116633974-C-T | c.331G>A | p.Glu111Lys | Missense | 4/10 | - | 1 |
11-116634557-T-C | c.323-575A>G | - | IntronicSNV | - | 3/9 | 8 |
11-116634585-T-A | c.323-603A>T | - | IntronicSNV | - | 3/9 | 1 |
11-116634585-T-C | c.323-603A>G | - | IntronicSNV | - | 3/9 | 1 |
11-116634859-C-T | c.323-877G>A | - | IntronicSNV | - | 3/9 | 1 |
11-116635282-C-T | c.322+796G>A | - | IntronicSNV | - | 3/9 | 3 |
11-116635613-C-A | c.322+465G>T | - | IntronicSNV | - | 3/9 | 1 |
11-116635784-A-G | c.322+294T>C | - | IntronicSNV | - | 3/9 | 6 |
11-116636101-C-T | c.299G>A | p.Ser100Asn | Missense | 3/10 | - | 1 |
11-116636108-G-A | c.292C>T | p.Arg98Cys | Missense | 3/10 | - | 1 |
11-116636108-G-T | c.292C>A | p.Arg98Ser | Missense | 3/10 | - | 1 |
11-116636141-G-A | c.259C>T | p.Arg87Trp | Missense | 3/10 | - | 1 |
11-116636162-C-G | c.238G>C | p.Val80Leu | Missense | 3/10 | - | 1 |
11-116637002-G-A | c.238-840C>T | - | IntronicSNV | - | 2/9 | 1 |
11-116637146-C-T | c.238-984G>A | - | IntronicSNV | - | 2/9 | 4 |
11-116637985-A-C | c.238-1823T>G | - | IntronicSNV | - | 2/9 | 1 |
11-116638751-G-A | c.237+2094C>T | - | IntronicSNV | - | 2/9 | 1 |
11-116639104-A-G | c.237+1741T>C | - | IntronicSNV | - | 2/9 | 40 |
11-116639104-A-T | c.237+1741T>A | - | IntronicSNV | - | 2/9 | 40 |
11-116639692-C-T | c.237+1153G>A | - | IntronicSNV | - | 2/9 | 3 |
11-116639941-A-G | c.237+904T>C | - | IntronicSNV | - | 2/9 | 6 |
11-116639941-A-T | c.237+904T>A | - | IntronicSNV | - | 2/9 | 6 |
11-116640237-A-G | c.237+608T>C | - | IntronicSNV | - | 2/9 | 12 |
11-116640368-A-G | c.237+477T>C | - | IntronicSNV | - | 2/9 | 6 |
11-116640768-G-A | c.237+77C>T | - | IntronicSNV | - | 2/9 | 3 |
11-116640903-G-A | c.179C>T | p.Ala60Val | Missense | 2/10 | - | 1 |
11-116641028-C-T | c.144-90G>A | - | IntronicSNV | - | 1/9 | 2 |
11-116642100-A-G | c.144-1162T>C | - | IntronicSNV | - | 1/9 | 1 |
11-116642100-A-T | c.144-1162T>A | - | IntronicSNV | - | 1/9 | 1 |
11-116642137-C-T | c.144-1199G>A | - | IntronicSNV | - | 1/9 | 8 |
11-116643554-C-T | c.127G>A | p.Gly43Arg | Missense | 1/10 | - | 1 |
11-116643591-GGA-GAG | c.88_89delinsCT | p.Ser30Leu | Missense | 1/10 | - | 1 |
11-116643617-C-A | c.64G>T | p.Ala22Ser | Missense | 1/10 | - | 2 |
11-116643617-C-T | c.64G>A | p.Ala22Thr | Missense | 1/10 | - | 2 |
11-116643624-CC-AC | c.57delinsT | p.Gly19Gly | Missense | 1/10 | - | 1 |