Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
11-116660450-A-G | c.*394T>C | - | 3-UTRSNV | 4/4 | - | 2 |
11-116660558-TC-TCTC | c.*288_*289dup | - | 3-UTRInsertion | 4/4 | - | 1 |
11-116660558-T-TTC | c.*285_*286insGA | - | 3-UTRInsertion | 4/4 | - | 1 |
11-116660686-G-A | c.*158C>T | - | 3-UTRSNV | 4/4 | - | 56 |
11-116660768-G-A | c.*76C>T | - | 3-UTRSNV | 4/4 | - | 3 |
11-116660785-G-T | c.*59C>A | - | 3-UTRSNV | 4/4 | - | 2 |
11-116660794-C-A | c.*50G>T | - | 3-UTRSNV | 4/4 | - | 1 |
11-116660797-A-C | c.*47T>G | - | 3-UTRSNV | 4/4 | - | 1 |
11-116660797-A-G | c.*47T>C | - | 3-UTRSNV | 4/4 | - | 1 |
11-116660813-G-A | c.*31C>T | - | 3-UTRSNV | 4/4 | - | 9 |
11-116660870-C-T | c.1075G>A | p.Gly359Ser | Missense | 4/4 | - | 1 |
11-116660909-C-T | c.1036G>A | p.Asp346Asn | Missense | 4/4 | - | 1 |
11-116660917-C-G | c.1028G>C | p.Arg343Pro | Missense | 4/4 | - | 1 |
11-116660918-G-A | c.1027C>T | p.Arg343Cys | Missense | 4/4 | - | 2 |
11-116660922-C-G | c.1023G>C | p.Gln341His | Missense | 4/4 | - | 1 |
11-116660956-TTGTT-T | c.990_993del | p.Asp332Valfs*5 | Frameshift | 4/4 | - | 1 |
11-116660983-T-A | c.962A>T | p.His321Leu | Missense | 4/4 | - | 1 |
11-116661001-G-A | c.944C>T | p.Ala315Val | Missense | 4/4 | - | 2 |
11-116661008-G-A | c.937C>T | p.Gln313* | Nonsense | 4/4 | - | 1 |
11-116661062-G-A | c.883C>T | p.Gln295* | Nonsense | 4/4 | - | 2 |
11-116661085-G-A | c.860C>T | p.Ala287Val | Missense | 4/4 | - | 1 |
11-116661101-G-A | c.844C>T | p.Arg282Cys | Missense | 4/4 | - | 2 |
11-116661101-G-T | c.844C>A | p.Arg282Ser | Missense | 4/4 | - | 3 |
11-116661134-C-A | c.811G>T | p.Gly271Cys | Missense | 4/4 | - | 2 |
11-116661181-T-C | c.764A>G | p.Glu255Gly | Missense | 4/4 | - | 1 |
11-116661187-A-G | c.758T>C | p.Leu253Pro | Missense | 4/4 | - | 2 |
11-116661199-T-C | c.746A>G | p.Asn249Ser | Missense | 4/4 | - | 1 |
11-116661212-G-A | c.733C>T | p.Arg245Cys | Missense | 4/4 | - | 1 |
11-116661221-G-C | c.724C>G | p.Leu242Val | Missense | 4/4 | - | 1 |
11-116661244-CTTCCGGGAGAGC-C | c.694_705del | p.Ser232_Leu235del | InFrameDeletion | 4/4 | - | 1 |
11-116661245-T-G | c.700A>C | p.Lys234Gln | Missense | 4/4 | - | 1 |
11-116661247-CG-GA | c.697_698delinsTC | p.Arg233Ser | Missense | 4/4 | - | 1 |
11-116661301-G-A | c.644C>T | p.Pro215Leu | Missense | 4/4 | - | 1 |
11-116661346-C-T | c.599G>A | p.Ser200Asn | Missense | 4/4 | - | 1 |
11-116661358-T-G | c.587A>C | p.Glu196Ala | Missense | 4/4 | - | 1 |
11-116661358-T-TG | c.586_587insC | p.Glu196Alafs*72 | Frameshift | 4/4 | - | 1 |
11-116661392-C-A | c.553G>T | p.Gly185Cys | Missense | 4/4 | - | 61 |
11-116661392-C-T | c.553G>A | p.Gly185Ser | Missense | 4/4 | - | 21 |
11-116661393-G-A | c.552C>T | p.Thr184Thr | Synonymous | 4/4 | - | 1 |
11-116661393-G-C | c.552C>G | p.Thr184Thr | Synonymous | 4/4 | - | 1 |
11-116661393-G-T | c.552C>A | p.Thr184Thr | Synonymous | 4/4 | - | 1 |
11-116661394-G-A | c.551C>T | p.Thr184Ile | Missense | 4/4 | - | 1 |
11-116661394-G-C | c.551C>G | p.Thr184Ser | Missense | 4/4 | - | 2 |
11-116661394-GG-G | c.552del | p.Gly185Alafs*15 | Frameshift | 4/4 | - | 1 |
11-116661427-A-G | c.518T>C | p.Leu173Pro | Missense | 4/4 | - | 1 |
11-116661461-A-C | c.484T>G | p.Leu162Val | Missense | 4/4 | - | 2 |
11-116661488-C-T | c.457G>A | p.Val153Met | Missense | 4/4 | - | 11 |
11-116661503-G-A | c.442C>T | p.Gln148* | Nonsense | 4/4 | - | 5 |
11-116661512-G-A | c.433C>T | p.Gln145* | Nonsense | 4/4 | - | 3 |
11-116661524-C-A | c.421G>T | p.Ala141Ser | Missense | 4/4 | - | 2 |
11-116661530-G-A | c.415C>T | p.Gln139* | Nonsense | 4/4 | - | 12 |
11-116661547-G-C | c.398C>G | p.Thr133Arg | Missense | 4/4 | - | 1 |
11-116661599-C-A | c.346G>T | p.Glu116* | Nonsense | 4/4 | - | 1 |
11-116661617-A-AA | c.328dup | p.Tyr110Leufs*158 | Frameshift | 4/4 | - | 1 |
11-116661656-G-A | c.289C>T | p.Gln97* | Nonsense | 4/4 | - | 7 |
11-116661656-G-T | c.289C>A | p.Gln97Lys | Missense | 4/4 | - | 1 |
11-116661662-G-A | c.283C>T | p.Gln95* | Nonsense | 4/4 | - | 1 |
11-116661757-TC-TT | c.187delinsA | p.Asp63Asn | Missense | 4/4 | - | 1 |
11-116661783-C-A | c.162G>T | p.Ala54Ala | Synonymous | 4/4 | - | 1 |
11-116661783-C-G | c.162G>C | p.Ala54Ala | Synonymous | 4/4 | - | 1 |
11-116661783-C-T | c.162G>A | p.Ala54Ala | Synonymous | 4/4 | - | 1 |
11-116661826-T-C | c.162-43A>G | - | IntronicSNV | - | 3/3 | 26 |
11-116662303-C-T | c.160G>A | p.Ala54Thr | Missense | 3/4 | - | 4 |
11-116662305-G-A | c.158C>T | p.Pro53Leu | Missense | 3/4 | - | 2 |
11-116662331-G-A | c.132C>T | p.Ile44Ile | Synonymous | 3/4 | - | 2 |
11-116662331-G-C | c.132C>G | p.Ile44Met | Missense | 3/4 | - | 1 |
11-116662331-G-T | c.132C>A | p.Ile44Ile | Synonymous | 3/4 | - | 6 |
11-116662352-G-A | c.111C>T | p.Asp37Asp | Synonymous | 3/4 | - | 2 |
11-116662352-G-T | c.111C>A | p.Asp37Glu | Missense | 3/4 | - | 2 |
11-116662356-C-T | c.107G>A | p.Gly36Glu | Missense | 3/4 | - | 1 |
11-116662406-C-A | c.57G>T | p.Ser19Ser | Synonymous | 3/4 | - | 1 |
11-116662406-C-G | c.57G>C | p.Ser19Ser | Synonymous | 3/4 | - | 1 |
11-116662406-C-T | c.57G>A | p.Ser19Ser | Synonymous | 3/4 | - | 1 |
11-116662407-G-A | c.56C>T | p.Ser19Leu | Missense | 3/4 | - | 78 |
11-116662407-G-C | c.56C>G | p.Ser19Trp | Missense | 3/4 | - | 163 |
11-116662441-C-T | c.50-28G>A | - | IntronicSNV | - | 2/3 | 1 |
11-116662449-C-G | c.50-36G>C | - | IntronicSNV | - | 2/3 | 1 |
11-116662473-C-A | c.49+55G>T | - | IntronicSNV | - | 2/3 | 1 |
11-116662529-TG-GG | c.48delinsC | p.Ser16Ser | Missense | 2/4 | - | 2 |
11-116662530-GA-CA | c.47delinsG | p.Ser16* | Missense | 2/4 | - | 1 |
11-116662533-AA-A | c.46del | p.Ser16Glnfs*41 | Frameshift | 2/4 | - | 1 |
11-116662543-AGAGCCCAGGTGAGCACGGCAGCCA-A | c.16_39del | p.Ala6_Ala13del | InFrameDeletion | 2/4 | - | 1 |
11-116662579-C-T | c.-3G>A | - | 5-UTRSNV | 2/4 | - | 68 |
11-116662785-G-A | c.-8-201C>T | - | IntronicSNV | - | 1/3 | 2 |