Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
3-38589673-T-TTTTTCCTAGTCTCTTCTCCCCTCCT | c.*2145_*2146insGAGAAGAGACTAGGAAAAAGGAGGG | - | 3-UTRInsertion | 28/28 | - | 1 |
3-38589673-T-TTTTTCCTACTCTCTTCTCCCCTCCT | c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG | - | 3-UTRInsertion | 28/28 | - | 1 |
3-38589805-C-T | c.*2007G>A | - | 3-UTRSNV | 28/28 | - | 1 |
3-38590069-C-T | c.*1743G>A | - | 3-UTRSNV | 28/28 | - | 1 |
3-38590188-C-T | c.*1624G>A | - | 3-UTRSNV | 28/28 | - | 1 |
3-38590191-C-T | c.*1621G>A | - | 3-UTRSNV | 28/28 | - | 1 |
3-38590244-C-G | c.*1568G>C | - | 3-UTRSNV | 28/28 | - | 1 |
3-38590275-A-G | c.*1537T>C | - | 3-UTRSNV | 28/28 | - | 1 |
3-38590376-A-G | c.*1436T>C | - | 3-UTRSNV | 28/28 | - | 1 |
3-38590608-C-T | c.*1204G>A | - | 3-UTRSNV | 28/28 | - | 1 |
3-38590790-A-G | c.*1022T>C | - | 3-UTRSNV | 28/28 | - | 1 |
3-38590849-G-A | c.*963C>T | - | 3-UTRSNV | 28/28 | - | 1 |
3-38590850-A-T | c.*962T>A | - | 3-UTRSNV | 28/28 | - | 1 |
3-38590850-A-C | c.*962T>G | - | 3-UTRSNV | 28/28 | - | 1 |
3-38591059-G-A | c.*753C>T | - | 3-UTRSNV | 28/28 | - | 2 |
3-38591198-C-T | c.*614G>A | - | 3-UTRSNV | 28/28 | - | 1 |
3-38591684-G-A | c.*128C>T | - | 3-UTRSNV | 28/28 | - | 1 |
3-38591689-T-C | c.*123A>G | - | 3-UTRSNV | 28/28 | - | 2 |
3-38591815-C-T | c.6048G>A | p.Val2016Val | Synonymous | 28/28 | - | 1 |
3-38591817-C-T | c.6046G>A | p.Val2016Met | Missense | 28/28 | - | 1 |
3-38591821-GG-AA | c.6041_6042delinsTT | p.Ser2014Phe | Nonsense | 28/28 | - | 1 |
3-38591828-CG-GC | c.6034_6035delinsGC | p.Arg2012Ala | Missense | 28/28 | - | 3 |
3-38591828-C-T | c.6035G>A | p.Arg2012His | Missense | 28/28 | - | 1 |
3-38591829-G-A | c.6034C>T | p.Arg2012Cys | Missense | 28/28 | - | 1 |
3-38591846-G-A | c.6017C>T | p.Pro2006Leu | Missense | 28/28 | - | 1 |
3-38591847-G-C | c.6016C>G | p.Pro2006Ala | Missense | 28/28 | - | 22 |
3-38591847-G-T | c.6016C>A | p.Pro2006Thr | Missense | 28/28 | - | 2 |
3-38591850-G-C | c.6013C>G | p.Pro2005Ala | Missense | 28/28 | - | 3 |
3-38591853-A-G | c.6010T>C | p.Phe2004Leu | Missense | 28/28 | - | 25 |
3-38591853-A-T | c.6010T>A | p.Phe2004Ile | Missense | 28/28 | - | 1 |
3-38591853-A-C | c.6010T>G | p.Phe2004Val | Missense | 28/28 | - | 3 |
3-38591900-A-C | c.5963T>G | p.Leu1988Arg | Missense | 28/28 | - | 3 |
3-38591902-G-C | c.5961C>G | p.Asn1987Lys | Missense | 28/28 | - | 1 |
3-38591924-A-G | c.5939T>C | p.Val1980Ala | Missense | 28/28 | - | 1 |
3-38591933-TA-GC | c.5929_5930delinsGC | p.Tyr1977Ala | Missense | 28/28 | - | 4 |
3-38591934-A-T | c.5929T>A | p.Tyr1977Asn | Missense | 28/28 | - | 2 |
3-38591950-A-G | c.5913T>C | p.Thr1971Thr | Synonymous | 28/28 | - | 1 |
3-38591950-A-C | c.5913T>G | p.Thr1971Thr | Synonymous | 28/28 | - | 1 |
3-38591990-C-T | c.5873G>A | p.Arg1958Gln | Missense | 28/28 | - | 2 |
3-38591991-G-A | c.5872C>T | p.Arg1958* | Nonsense | 28/28 | - | 5 |
3-38592005-ACTCA-A | c.5859_5862del | p.Ser1953Argfs*84 | Frameshift | 28/28 | - | 1 |
3-38592008-A-G | c.5855T>C | p.Met1952Thr | Missense | 28/28 | - | 1 |
3-38592012-C-T | c.5851G>A | p.Val1951Met | Missense | 28/28 | - | 5 |
3-38592012-C-A | c.5851G>T | p.Val1951Leu | Missense | 28/28 | - | 27 |
3-38592014-T-C | c.5849A>G | p.Tyr1950Cys | Missense | 28/28 | - | 1 |
3-38592015-A-G | c.5848T>C | p.Tyr1950His | Missense | 28/28 | - | 1 |
3-38592018-C-A | c.5845G>T | p.Ala1949Ser | Missense | 28/28 | - | 1 |
3-38592019-G-A | c.5844C>T | p.Ile1948Ile | Synonymous | 28/28 | - | 1 |
3-38592033-G-A | c.5830C>T | p.Arg1944* | Nonsense | 28/28 | - | 3 |
3-38592051-C-T | c.5812G>A | p.Glu1938Lys | Missense | 28/28 | - | 2 |
3-38592053-G-A | c.5810C>T | p.Ser1937Phe | Missense | 28/28 | - | 1 |
3-38592060-C-T | c.5803G>A | p.Gly1935Ser | Missense | 28/28 | - | 2 |
3-38592093-C-T | c.5770G>A | p.Ala1924Thr | Missense | 28/28 | - | 14 |
3-38592098-TT-GC | c.5764_5765delinsGC | p.Lys1922Ala | Missense | 28/28 | - | 1 |
3-38592099-T-C | c.5764A>G | p.Lys1922Glu | Missense | 28/28 | - | 1 |
3-38592109-T-G | c.5754A>C | p.Gln1918His | Missense | 28/28 | - | 1 |
3-38592109-T-A | c.5754A>T | p.Gln1918His | Missense | 28/28 | - | 1 |
3-38592113-AG-AA | c.5749delinsT | p.Leu1917Leu | Missense | 28/28 | - | 1 |
3-38592122-CT-GA | c.5740_5741delinsTC | p.Arg1914Ser | Missense | 28/28 | - | 1 |
3-38592122-CT-GC | c.5740_5741delinsGC | p.Arg1914Ala | Missense | 28/28 | - | 1 |
3-38592125-C-T | c.5738G>A | p.Arg1913His | Missense | 28/28 | - | 6 |
3-38592134-CT-GA | c.5728_5729delinsTC | p.Arg1910Ser | Missense | 28/28 | - | 1 |
3-38592134-CT-GC | c.5728_5729delinsGC | p.Arg1910Ala | Missense | 28/28 | - | 1 |
3-38592137-T-C | c.5726A>G | p.Gln1909Arg | Missense | 28/28 | - | 7 |
3-38592137-TG-GC | c.5725_5726delinsGC | p.Gln1909Ala | Missense | 28/28 | - | 1 |
3-38592140-AT-GC | c.5722_5723delinsGC | p.Ile1908Ala | Missense | 28/28 | - | 1 |
3-38592144-C-G | c.5719G>C | p.Val1907Leu | Missense | 28/28 | - | 1 |
3-38592152-G-A | c.5711C>T | p.Ser1904Leu | Missense | 28/28 | - | 13 |
3-38592154-CAC-CAT | c.5707delinsA | p.Val1903Met | Missense | 28/28 | - | 1 |
3-38592156-C-A | c.5707G>T | p.Val1903Leu | Missense | 28/28 | - | 1 |
3-38592156-C-G | c.5707G>C | p.Val1903Leu | Missense | 28/28 | - | 1 |
3-38592162-C-G | c.5701G>C | p.Glu1901Gln | Missense | 28/28 | - | 5 |
3-38592169-G-T | c.5694C>A | p.Arg1898Arg | Synonymous | 28/28 | - | 1 |
3-38592169-G-C | c.5694C>G | p.Arg1898Arg | Synonymous | 28/28 | - | 1 |
3-38592169-G-A | c.5694C>T | p.Arg1898Arg | Synonymous | 28/28 | - | 1 |
3-38592170-C-T | c.5693G>A | p.Arg1898His | Missense | 28/28 | - | 7 |
3-38592171-G-A | c.5692C>T | p.Arg1898Cys | Missense | 28/28 | - | 3 |
3-38592173-C-T | c.5690G>A | p.Arg1897Gln | Missense | 28/28 | - | 1 |
3-38592174-G-A | c.5689C>T | p.Arg1897Trp | Missense | 28/28 | - | 7 |
3-38592177-G-C | c.5686C>G | p.Leu1896Val | Missense | 28/28 | - | 1 |
3-38592186-GT-G | c.5677del | p.Thr1893Profs*29 | Frameshift | 28/28 | - | 2 |
3-38592195-C-T | c.5668G>A | p.Glu1890Lys | Missense | 28/28 | - | 2 |
3-38592208-GG-AA | c.5654_5655delinsTT | p.Ser1885Phe | Nonsense | 28/28 | - | 1 |
3-38592239-A-G | c.5624T>C | p.Met1875Thr | Missense | 28/28 | - | 7 |
3-38592247-C-A | c.5616G>T | p.Lys1872Asn | Missense | 28/28 | - | 3 |
3-38592247-C-G | c.5616G>C | p.Lys1872Asn | Missense | 28/28 | - | 3 |
3-38592252-G-C | c.5611C>G | p.Leu1871Val | Missense | 28/28 | - | 1 |
3-38592254-G-T | c.5609C>A | p.Ala1870Asp | Missense | 28/28 | - | 1 |
3-38592255-C-T | c.5608G>A | p.Ala1870Thr | Missense | 28/28 | - | 1 |
3-38592282-C-T | c.5581G>A | p.Val1861Ile | Missense | 28/28 | - | 4 |
3-38592283-C-A | c.5580G>T | p.Arg1860Ser | Missense | 28/28 | - | 1 |
3-38592283-C-G | c.5580G>C | p.Arg1860Ser | Missense | 28/28 | - | 1 |
3-38592285-T-C | c.5578A>G | p.Arg1860Gly | Missense | 28/28 | - | 1 |
3-38592287-TT-GG | c.5575_5576delinsCC | p.Lys1859Pro | Missense | 28/28 | - | 1 |
3-38592288-TT-T | c.5578del | p.Arg1860Glyfs*12 | Frameshift | 28/28 | - | 4 |
3-38592296-GC-AT | c.5566_5567delinsAT | p.Ala1856Ile | Missense | 28/28 | - | 1 |
3-38592299-AA-CA | c.5564delinsG | p.Phe1855Cys | Missense | 28/28 | - | 1 |
3-38592312-T-C | c.5551A>G | p.Met1851Val | Missense | 28/28 | - | 1 |
3-38592314-C-G | c.5549G>C | p.Cys1850Ser | Missense | 28/28 | - | 2 |
3-38592315-A-T | c.5548T>A | p.Cys1850Ser | Missense | 28/28 | - | 1 |
3-38592317-T-C | c.5546A>G | p.His1849Arg | Missense | 28/28 | - | 10 |
3-38592323-C-T | c.5540G>A | p.Arg1847His | Missense | 28/28 | - | 2 |
3-38592347-T-C | c.5516A>G | p.Asp1839Gly | Missense | 28/28 | - | 6 |
3-38592356-A-G | c.5507T>C | p.Ile1836Thr | Missense | 28/28 | - | 3 |
3-38592360-G-A | c.5503C>T | p.Leu1835Phe | Missense | 28/28 | - | 1 |
3-38592369-G-C | c.5494C>G | p.Gln1832Glu | Missense | 28/28 | - | 9 |
3-38592386-C-T | c.5477G>A | p.Arg1826His | Missense | 28/28 | - | 15 |
3-38592387-G-A | c.5476C>T | p.Arg1826Cys | Missense | 28/28 | - | 3 |
3-38592389-A-G | c.5474T>C | p.Leu1825Pro | Missense | 28/28 | - | 17 |
3-38592393-G-C | c.5470C>G | p.Pro1824Ala | Missense | 28/28 | - | 1 |
3-38592399-GACAG-G | c.5464_5467del | p.Glu1823Hisfs*10 | Frameshift | 28/28 | - | 2 |
3-38592406-A-G | c.5457T>C | p.Asp1819Asp | Synonymous | 28/28 | - | 24 |
3-38592408-C-T | c.5455G>A | p.Asp1819Asn | Missense | 28/28 | - | 7 |
3-38592410-G-C | c.5453C>G | p.Ala1818Gly | Missense | 28/28 | - | 1 |
3-38592415-AGT-A | c.5447_5448del | p.Asp1816Valfs*7 | Frameshift | 28/28 | - | 4 |
3-38592428-G-T | c.5435C>A | p.Ser1812* | Nonsense | 28/28 | - | 1 |
3-38592441-A-AT | c.5421_5422insA | p.Phe1808Ilefs*3 | Frameshift | 28/28 | - | 1 |
3-38592439-A-T | c.5424T>A | p.Phe1808Leu | Missense | 28/28 | - | 2 |
3-38592441-A-T | c.5422T>A | p.Phe1808Ile | Missense | 28/28 | - | 1 |
3-38592441-A-G | c.5422T>C | p.Phe1808Leu | Missense | 28/28 | - | 2 |
3-38592439-A-C | c.5424T>G | p.Phe1808Leu | Missense | 28/28 | - | 2 |
3-38592445-GAGTG-G | c.5417_5420del | p.Thr1806Serfs*27 | Frameshift | 28/28 | - | 1 |
3-38592447-T-A | c.5416A>T | p.Thr1806Ser | Missense | 28/28 | - | 1 |
3-38592446-G-C | c.5417C>G | p.Thr1806Ser | Missense | 28/28 | - | 1 |
3-38592458-T-G | c.5405A>C | p.Asp1802Ala | Missense | 28/28 | - | 1 |
3-38592467-T-G | c.5396A>C | p.Glu1799Ala | Missense | 28/28 | - | 2 |
3-38592469-C-T | c.5394G>A | p.Trp1798* | Nonsense | 28/28 | - | 1 |
3-38592470-C-T | c.5393G>A | p.Trp1798* | Nonsense | 28/28 | - | 1 |
3-38592477-C-CGTC | c.5387_5388insCGA | p.Tyr1795_Glu1796insAsp | InFrameInsertion | 28/28 | - | 1 |
3-38592478-ATA-GAG | c.5383_5385delinsCTC | p.Tyr1795Leu | Missense | 28/28 | - | 1 |
3-38592479-T-G | c.5384A>C | p.Tyr1795Ser | Missense | 28/28 | - | 1 |
3-38592479-T-C | c.5384A>G | p.Tyr1795Cys | Missense | 28/28 | - | 32 |
3-38592479-T-A | c.5384A>T | p.Tyr1795Phe | Missense | 28/28 | - | 1 |
3-38592479-TA-GC | c.5383_5384delinsGC | p.Tyr1795Ala | Missense | 28/28 | - | 1 |
3-38592479-TA-CG | c.5383_5384delinsCG | p.Tyr1795Arg | Missense | 28/28 | - | 1 |
3-38592480-A-G | c.5383T>C | p.Tyr1795His | Missense | 28/28 | - | 19 |
3-38592482-A-C | c.5381T>G | p.Phe1794Cys | Missense | 28/28 | - | 1 |
3-38592483-A-T | c.5380T>A | p.Phe1794Ile | Missense | 28/28 | - | 1 |
3-38592488-T-G | c.5375A>C | p.Asp1792Ala | Missense | 28/28 | - | 3 |
3-38592489-C-T | c.5374G>A | p.Asp1792Asn | Missense | 28/28 | - | 1 |
3-38592493-G-T | c.5370C>A | p.Asp1790Glu | Missense | 28/28 | - | 1 |
3-38592493-G-C | c.5370C>G | p.Asp1790Glu | Missense | 28/28 | - | 1 |
3-38592494-T-C | c.5369A>G | p.Asp1790Gly | Missense | 28/28 | - | 46 |
3-38592494-T-G | c.5369A>C | p.Asp1790Ala | Missense | 28/28 | - | 2 |
3-38592495-C-T | c.5368G>A | p.Asp1790Asn | Missense | 28/28 | - | 1 |
3-38592500-T-G | c.5363A>C | p.Glu1788Ala | Missense | 28/28 | - | 3 |
3-38592503-C-T | c.5360G>A | p.Ser1787Asn | Missense | 28/28 | - | 11 |
3-38592506-CAG-C | c.5356_5357del | p.Leu1786Glufs*2 | Frameshift | 28/28 | - | 1 |
3-38592506-AG-GC | c.5356_5357delinsGC | p.Leu1786Ala | Missense | 28/28 | - | 1 |
3-38592506-A-G | c.5357T>C | p.Leu1786Pro | Missense | 28/28 | - | 1 |
3-38592506-A-T | c.5357T>A | p.Leu1786Gln | Missense | 28/28 | - | 4 |
3-38592513-C-A | c.5350G>T | p.Glu1784* | Nonsense | 28/28 | - | 2 |
3-38592513-C-T | c.5350G>A | p.Glu1784Lys | Missense | 28/28 | - | 66 |
3-38592521-T-C | c.5342A>G | p.Glu1781Gly | Missense | 28/28 | - | 1 |
3-38592524-T-C | c.5339A>G | p.Glu1780Gly | Missense | 28/28 | - | 1 |
3-38592527-G-A | c.5336C>T | p.Thr1779Met | Missense | 28/28 | - | 5 |
3-38592534-C-T | c.5329G>A | p.Val1777Met | Missense | 28/28 | - | 8 |
3-38592543-T-C | c.5320A>G | p.Asn1774Asp | Missense | 28/28 | - | 7 |
3-38592549-G-C | c.5314C>G | p.Leu1772Val | Missense | 28/28 | - | 2 |
3-38592551-A-T | c.5312T>A | p.Ile1771Asn | Missense | 28/28 | - | 1 |
3-38592552-T-A | c.5311A>T | p.Ile1771Phe | Missense | 28/28 | - | 1 |
3-38592554-AT-TG | c.5308_5309delinsCA | p.Ile1770His | Missense | 28/28 | - | 2 |
3-38592554-A-G | c.5309T>C | p.Ile1770Thr | Missense | 28/28 | - | 1 |
3-38592554-A-T | c.5309T>A | p.Ile1770Asn | Missense | 28/28 | - | 1 |
3-38592555-T-A | c.5308A>T | p.Ile1770Phe | Missense | 28/28 | - | 1 |
3-38592561-T-C | c.5302A>G | p.Ile1768Val | Missense | 28/28 | - | 21 |
3-38592563-TA-GC | c.5299_5300delinsGC | p.Tyr1767Ala | Missense | 28/28 | - | 1 |
3-38592563-T-C | c.5300A>G | p.Tyr1767Cys | Missense | 28/28 | - | 11 |
3-38592565-CAT-TGT | c.5297_5298delinsCA | p.Met1766Thr | Missense | 28/28 | - | 1 |
3-38592567-T-A | c.5296A>T | p.Met1766Leu | Missense | 28/28 | - | 16 |
3-38592567-T-G | c.5296A>C | p.Met1766Leu | Missense | 28/28 | - | 16 |
3-38592567-T-C | c.5296A>G | p.Met1766Val | Missense | 28/28 | - | 1 |
3-38592572-A-T | c.5291T>A | p.Val1764Asp | Missense | 28/28 | - | 1 |
3-38592572-AC-TG | c.5290_5291delinsCA | p.Val1764His | Missense | 28/28 | - | 1 |
3-38592573-C-A | c.5290G>T | p.Val1764Phe | Missense | 28/28 | - | 1 |
3-38592574-CAC-TGT | c.5287_5289delinsACA | p.Val1763Thr | Missense | 28/28 | - | 1 |
3-38592576-C-T | c.5287G>A | p.Val1763Met | Missense | 28/28 | - | 24 |
3-38592576-C-G | c.5287G>C | p.Val1763Leu | Missense | 28/28 | - | 1 |
3-38592576-C-A | c.5287G>T | p.Val1763Leu | Missense | 28/28 | - | 1 |
3-38592581-A-T | c.5282T>A | p.Leu1761His | Missense | 28/28 | - | 2 |
3-38592582-G-A | c.5281C>T | p.Leu1761Phe | Missense | 28/28 | - | 2 |
3-38592583-GAA-AAG | c.5278_5280delinsCTT | p.Phe1760Leu | Missense | 28/28 | - | 4 |
3-38592584-AA-GC | c.5278_5279delinsGC | p.Phe1760Ala | Missense | 28/28 | - | 16 |
3-38592584-A-C | c.5279T>G | p.Phe1760Cys | Missense | 28/28 | - | 2 |
3-38592586-GGA-AAG | c.5275_5277delinsCTT | p.Ser1759Leu | Missense | 28/28 | - | 1 |
3-38592587-GA-CT | c.5275_5276delinsAG | p.Ser1759Ser | Missense | 28/28 | - | 1 |
3-38592587-G-C | c.5276C>G | p.Ser1759Cys | Missense | 28/28 | - | 1 |
3-38592588-A-C | c.5275T>G | p.Ser1759Ala | Missense | 28/28 | - | 1 |
3-38592591-T-C | c.5272A>G | p.Ile1758Val | Missense | 28/28 | - | 2 |
3-38592596-AT-TG | c.5266_5267delinsCA | p.Ile1756His | Missense | 28/28 | - | 2 |
3-38592596-GATG-G | c.5272_5274del | p.Ile1758del | InFrameDeletion | 28/28 | - | 1 |
3-38592616-G-A | c.5247C>T | p.Ile1749Ile | Synonymous | 28/28 | - | 1 |
3-38592616-G-T | c.5247C>A | p.Ile1749Ile | Synonymous | 28/28 | - | 1 |
3-38592620-C-G | c.5243G>C | p.Gly1748Ala | Missense | 28/28 | - | 1 |
3-38592620-C-T | c.5243G>A | p.Gly1748Asp | Missense | 28/28 | - | 4 |
3-38592624-C-T | c.5239G>A | p.Val1747Met | Missense | 28/28 | - | 1 |
3-38592627-C-T | c.5236G>A | p.Ala1746Thr | Missense | 28/28 | - | 1 |
3-38592635-C-T | c.5228G>A | p.Gly1743Glu | Missense | 28/28 | - | 3 |
3-38592636-C-T | c.5227G>A | p.Gly1743Arg | Missense | 28/28 | - | 16 |
3-38592636-C-G | c.5227G>C | p.Gly1743Arg | Missense | 28/28 | - | 16 |
3-38592645-C-G | c.5218G>C | p.Gly1740Arg | Missense | 28/28 | - | 1 |
3-38592645-C-T | c.5218G>A | p.Gly1740Arg | Missense | 28/28 | - | 1 |
3-38592648-G-A | c.5215C>T | p.Arg1739Trp | Missense | 28/28 | - | 1 |
3-38592674-G-T | c.5189C>A | p.Pro1730His | Missense | 28/28 | - | 1 |
3-38592679-G-C | c.5184C>G | p.Cys1728Trp | Missense | 28/28 | - | 1 |
3-38592681-A-G | c.5182T>C | p.Cys1728Arg | Missense | 28/28 | - | 1 |
3-38592686-G-T | c.5177C>A | p.Pro1726His | Missense | 28/28 | - | 1 |
3-38592686-G-C | c.5177C>G | p.Pro1726Arg | Missense | 28/28 | - | 1 |
3-38592689-G-A | c.5174C>T | p.Pro1725Leu | Missense | 28/28 | - | 3 |
3-38592695-G-T | c.5168C>A | p.Thr1723Asn | Missense | 28/28 | - | 1 |
3-38592699-T-C | c.5164A>G | p.Asn1722Asp | Missense | 28/28 | - | 1 |
3-38592707-G-C | c.5156C>G | p.Pro1719Arg | Missense | 28/28 | - | 1 |
3-38592713-A-G | c.5150T>C | p.Leu1717Pro | Missense | 28/28 | - | 1 |
3-38592722-T-C | c.5141A>G | p.Asp1714Gly | Missense | 28/28 | - | 2 |
3-38592729-C-A | c.5134G>T | p.Gly1712Cys | Missense | 28/28 | - | 1 |
3-38592729-C-T | c.5134G>A | p.Gly1712Ser | Missense | 28/28 | - | 2 |
3-38592734-G-A | c.5129C>T | p.Ser1710Leu | Missense | 28/28 | - | 7 |
3-38592737-G-A | c.5126C>T | p.Thr1709Met | Missense | 28/28 | - | 3 |
3-38592737-G-C | c.5126C>G | p.Thr1709Arg | Missense | 28/28 | - | 1 |
3-38592740-G-T | c.5123C>A | p.Thr1708Asn | Missense | 28/28 | - | 1 |
3-38592749-A-G | c.5114T>C | p.Phe1705Ser | Missense | 28/28 | - | 4 |
3-38592750-A-T | c.5113T>A | p.Phe1705Ile | Missense | 28/28 | - | 1 |
3-38592752-A-G | c.5111T>C | p.Leu1704Pro | Missense | 28/28 | - | 1 |
3-38592760-C-A | c.5103G>T | p.Met1701Ile | Missense | 28/28 | - | 1 |
3-38592765-T-C | c.5098A>G | p.Ser1700Gly | Missense | 28/28 | - | 2 |
3-38592771-C-T | c.5092G>A | p.Ala1698Thr | Missense | 28/28 | - | 2 |
3-38592780-G-A | c.5083C>T | p.Gln1695* | Nonsense | 28/28 | - | 1 |
3-38592788-A-G | c.5075T>C | p.Phe1692Ser | Missense | 28/28 | - | 1 |
3-38592795-C-T | c.5068G>A | p.Asp1690Asn | Missense | 28/28 | - | 7 |
3-38592808-C-A | c.5055G>T | p.Glu1685Asp | Missense | 28/28 | - | 1 |
3-38592808-CT-AA | c.5054_5055delinsTT | p.Glu1685Val | Missense | 28/28 | - | 1 |
3-38592809-T-A | c.5054A>T | p.Glu1685Val | Missense | 28/28 | - | 2 |
3-38592825-C-T | c.5038G>A | p.Ala1680Thr | Missense | 28/28 | - | 1 |
3-38592845-A-G | c.5018T>C | p.Ile1673Thr | Missense | 28/28 | - | 1 |
3-38592848-G-T | c.5015C>A | p.Ser1672Tyr | Missense | 28/28 | - | 1 |
3-38592864-C-T | c.4999G>A | p.Val1667Ile | Missense | 28/28 | - | 2 |
3-38592882-C-T | c.4981G>A | p.Gly1661Arg | Missense | 28/28 | - | 2 |
3-38592885-T-C | c.4978A>G | p.Ile1660Val | Missense | 28/28 | - | 10 |
3-38592887-TT-GC | c.4975_4976delinsGC | p.Asn1659Ala | Missense | 28/28 | - | 1 |
3-38592895-GGC-CAA | c.4966_4968delinsTTG | p.Ala1656Leu | Missense | 28/28 | - | 1 |
3-38592896-G-T | c.4967C>A | p.Ala1656Asp | Missense | 28/28 | - | 1 |
3-38592908-A-C | c.4955T>G | p.Met1652Arg | Missense | 28/28 | - | 7 |
3-38592908-A-G | c.4955T>C | p.Met1652Thr | Missense | 28/28 | - | 2 |
3-38592915-G-A | c.4948C>T | p.Leu1650Phe | Missense | 28/28 | - | 1 |
3-38592917-G-A | c.4946C>T | p.Ala1649Val | Missense | 28/28 | - | 2 |
3-38592926-A-C | c.4937T>G | p.Leu1646Arg | Missense | 28/28 | - | 1 |
3-38592929-G-A | c.4934C>T | p.Thr1645Met | Missense | 28/28 | - | 1 |
3-38592932-C-T | c.4931G>A | p.Arg1644His | Missense | 28/28 | - | 20 |
3-38592932-C-A | c.4931G>T | p.Arg1644Leu | Missense | 28/28 | - | 1 |
3-38592933-G-A | c.4930C>T | p.Arg1644Cys | Missense | 28/28 | - | 4 |
3-38592938-C-T | c.4925G>A | p.Gly1642Glu | Missense | 28/28 | - | 1 |
3-38592947-C-T | c.4916G>A | p.Gly1639Glu | Missense | 28/28 | - | 1 |
3-38592951-G-A | c.4912C>T | p.Arg1638* | Nonsense | 28/28 | - | 3 |
3-38592967-GCG-TGA | c.4894_4896delinsTCA | p.Arg1632Ser | Nonsense | 28/28 | - | 1 |
3-38592968-C-T | c.4895G>A | p.Arg1632His | Missense | 28/28 | - | 13 |
3-38592969-G-A | c.4894C>T | p.Arg1632Cys | Missense | 28/28 | - | 3 |
3-38592971-C-T | c.4892G>A | p.Gly1631Asp | Missense | 28/28 | - | 4 |
3-38592977-C-A | c.4886G>T | p.Arg1629Leu | Missense | 28/28 | - | 1 |
3-38592977-C-T | c.4886G>A | p.Arg1629Gln | Missense | 28/28 | - | 6 |
3-38592978-G-A | c.4885C>T | p.Arg1629* | Nonsense | 28/28 | - | 5 |
3-38592978-G-C | c.4885C>G | p.Arg1629Gly | Missense | 28/28 | - | 2 |
3-38592986-C-G | c.4877G>C | p.Arg1626Pro | Missense | 28/28 | - | 14 |
3-38592986-C-A | c.4877G>T | p.Arg1626Leu | Missense | 28/28 | - | 2 |
3-38592986-C-T | c.4877G>A | p.Arg1626His | Missense | 28/28 | - | 6 |
3-38592995-C-A | c.4868G>T | p.Arg1623Leu | Missense | 28/28 | - | 4 |
3-38592995-C-T | c.4868G>A | p.Arg1623Gln | Missense | 28/28 | - | 42 |
3-38592996-G-A | c.4867C>T | p.Arg1623* | Nonsense | 28/28 | - | 13 |
3-38592996-G-C | c.4867C>G | p.Arg1623Gly | Missense | 28/28 | - | 1 |
3-38592997-GG-G | c.4867del | p.Arg1623Glufs*8 | Frameshift | 28/28 | - | 1 |
3-38593000-GAG-TGG | c.4862_4863delinsCA | p.Leu1621Pro | Missense | 28/28 | - | 1 |
3-38593001-AG-TG | c.4862delinsA | p.Leu1621His | Missense | 28/28 | - | 1 |
3-38593002-G-T | c.4861C>A | p.Leu1621Ile | Missense | 28/28 | - | 1 |
3-38593004-G-T | c.4859C>A | p.Thr1620Lys | Missense | 28/28 | - | 5 |
3-38593004-G-A | c.4859C>T | p.Thr1620Met | Missense | 28/28 | - | 28 |
3-38593010-GG-G | c.4856del | p.Pro1619Argfs*12 | Frameshift | 28/28 | - | 1 |
3-38593010-G-C | c.4853C>G | p.Ser1618Cys | Missense | 28/28 | - | 4 |
3-38593015-G-A | c.4848C>T | p.Phe1616Phe | Synonymous | 28/28 | - | 1 |
3-38593016-A-T | c.4847T>A | p.Phe1616Tyr | Missense | 28/28 | - | 1 |
3-38593016-GAAG-G | c.4850_4852del | p.Phe1617del | InFrameDeletion | 28/28 | - | 4 |
3-38593025-T-A | c.4838A>T | p.Gln1613Leu | Missense | 28/28 | - | 1 |
3-38593037-G-C | c.4826C>G | p.Ser1609Trp | Missense | 28/28 | - | 2 |
3-38593040-A-G | c.4823T>C | p.Leu1608Pro | Missense | 28/28 | - | 1 |
3-38593393-T-C | c.4814-344A>G | - | IntronicSNV | - | 27/27 | 21 |
3-38593943-T-C | c.4814-894A>G | - | IntronicSNV | - | 27/27 | 1 |
3-38594973-T-G | c.4813+797A>C | - | IntronicSNV | - | 27/27 | 5 |
3-38594973-T-A | c.4813+797A>T | - | IntronicSNV | - | 27/27 | 5 |
3-38595769-C-T | c.4813+1G>A | - | IntronicSNV | - | 27/27 | 1 |
3-38595773-C-T | c.4810G>A | p.Val1604Met | Missense | 27/28 | - | 2 |
3-38595794-C-T | c.4789G>A | p.Val1597Met | Missense | 27/28 | - | 2 |
3-38595797-A-T | c.4786T>A | p.Phe1596Ile | Missense | 27/28 | - | 4 |
3-38595800-C-T | c.4783G>A | p.Asp1595Asn | Missense | 27/28 | - | 10 |
3-38595800-C-G | c.4783G>C | p.Asp1595His | Missense | 27/28 | - | 11 |
3-38595802-A-G | c.4781T>C | p.Phe1594Ser | Missense | 27/28 | - | 2 |
3-38595804-G-C | c.4779C>G | p.Ile1593Met | Missense | 27/28 | - | 3 |
3-38595835-C-T | c.4748G>A | p.Arg1583His | Missense | 27/28 | - | 1 |
3-38595836-G-T | c.4747C>A | p.Arg1583Ser | Missense | 27/28 | - | 1 |
3-38595836-G-A | c.4747C>T | p.Arg1583Cys | Missense | 27/28 | - | 4 |
3-38595838-A-G | c.4745T>C | p.Leu1582Pro | Missense | 27/28 | - | 1 |
3-38595863-C-T | c.4720G>A | p.Glu1574Lys | Missense | 27/28 | - | 3 |
3-38595864-G-A | c.4719C>T | p.Gly1573Gly | Synonymous | 27/28 | - | 1 |
3-38595871-A-C | c.4712T>G | p.Phe1571Cys | Missense | 27/28 | - | 3 |
3-38595872-A-G | c.4711T>C | p.Phe1571Leu | Missense | 27/28 | - | 1 |
3-38595878-C-G | c.4705G>C | p.Ala1569Pro | Missense | 27/28 | - | 1 |
3-38595883-AAA-A | c.4700_4701del | p.Phe1567Cysfs*221 | Frameshift | 27/28 | - | 1 |
3-38595903-C-A | c.4680G>T | p.Leu1560Phe | Missense | 27/28 | - | 2 |
3-38595903-C-G | c.4680G>C | p.Leu1560Phe | Missense | 27/28 | - | 2 |
3-38595906-G-GG | c.4677dup | p.Ala1561Glyfs*228 | Frameshift | 27/28 | - | 1 |
3-38595935-C-G | c.4648G>C | p.Asp1550His | Missense | 27/28 | - | 1 |
3-38595941-C-G | c.4642G>C | p.Glu1548Gln | Missense | 27/28 | - | 1 |
3-38595941-C-T | c.4642G>A | p.Glu1548Lys | Missense | 27/28 | - | 7 |
3-38595953-T-G | c.4630A>C | p.Thr1544Pro | Missense | 27/28 | - | 1 |
3-38595955-A-G | c.4628T>C | p.Val1543Ala | Missense | 27/28 | - | 1 |
3-38595962-T-C | c.4621A>G | p.Asn1541Asp | Missense | 27/28 | - | 2 |
3-38595989-C-T | c.4594G>A | p.Val1532Ile | Missense | 27/28 | - | 1 |
3-38595997-G-T | c.4586C>A | p.Ala1529Asp | Missense | 27/28 | - | 1 |
3-38596003-T-C | c.4580A>G | p.Lys1527Arg | Missense | 27/28 | - | 2 |
3-38596007-T-G | c.4576A>C | p.Thr1526Pro | Missense | 27/28 | - | 1 |
3-38596010-C-T | c.4573G>A | p.Val1525Met | Missense | 27/28 | - | 3 |
3-38596018-A-T | c.4565T>A | p.Phe1522Tyr | Missense | 27/28 | - | 3 |
3-38596017-G-T | c.4566C>A | p.Phe1522Leu | Missense | 27/28 | - | 1 |
3-38596017-G-C | c.4566C>G | p.Phe1522Leu | Missense | 27/28 | - | 1 |
3-38596019-A-G | c.4564T>C | p.Phe1522Leu | Missense | 27/28 | - | 1 |
3-38596021-A-T | c.4562T>A | p.Ile1521Lys | Missense | 27/28 | - | 6 |
3-38596023-G-T | c.4560C>A | p.Phe1520Leu | Missense | 27/28 | - | 1 |
3-38596023-G-C | c.4560C>G | p.Phe1520Leu | Missense | 27/28 | - | 1 |
3-38596025-A-G | c.4558T>C | p.Phe1520Leu | Missense | 27/28 | - | 1 |
3-38597148-AG-TC | c.4540_4541delinsGA | p.Leu1514Glu | Missense | 26/28 | - | 1 |
3-38597154-C-T | c.4535G>A | p.Arg1512Gln | Missense | 26/28 | - | 1 |
3-38597155-G-A | c.4534C>T | p.Arg1512Trp | Missense | 26/28 | - | 16 |
3-38597158-G-A | c.4531C>T | p.Pro1511Ser | Missense | 26/28 | - | 1 |
3-38597161-ATGGGCTTCTG-A | c.4519_4528del | p.Gln1507Serfs*5 | Frameshift | 26/28 | - | 1 |
3-38597162-TGGG-T | c.4525_4527del | p.Pro1509del | InFrameDeletion | 26/28 | - | 1 |
3-38597168-TCTG-T | c.4519_4521del | p.Gln1507del | InFrameDeletion | 26/28 | - | 1 |
3-38597170-TGGGGCTTCT-T | c.4519_4527del | p.Gln1507_Pro1509del | InFrameDeletion | 26/28 | - | 2 |
3-38597173-G-A | c.4516C>T | p.Pro1506Ser | Missense | 26/28 | - | 1 |
3-38597173-G-T | c.4516C>A | p.Pro1506Thr | Missense | 26/28 | - | 1 |
3-38597174-C-G | c.4515G>C | p.Lys1505Asn | Missense | 26/28 | - | 4 |
3-38597174-C-A | c.4515G>T | p.Lys1505Asn | Missense | 26/28 | - | 4 |
3-38597176-T-C | c.4513A>G | p.Lys1505Glu | Missense | 26/28 | - | 1 |
3-38597179-T-C | c.4510A>G | p.Lys1504Glu | Missense | 26/28 | - | 1 |
3-38597182-A-C | c.4507T>G | p.Ser1503Ala | Missense | 26/28 | - | 2 |
3-38597185-C-T | c.4504G>A | p.Gly1502Ser | Missense | 26/28 | - | 5 |
3-38597188-G-C | c.4501C>G | p.Leu1501Val | Missense | 26/28 | - | 11 |
3-38597189-C-A | c.4500G>T | p.Lys1500Asn | Missense | 26/28 | - | 2 |
3-38597189-C-G | c.4500G>C | p.Lys1500Asn | Missense | 26/28 | - | 2 |
3-38597191-T-G | c.4498A>C | p.Lys1500Gln | Missense | 26/28 | - | 1 |
3-38597191-T-C | c.4498A>G | p.Lys1500Glu | Missense | 26/28 | - | 1 |
3-38597193-CTTC-C | c.4498_4500del | p.Lys1500del | InFrameDeletion | 26/28 | - | 2 |
3-38597196-A-C | c.4493T>G | p.Met1498Arg | Missense | 26/28 | - | 1 |
3-38597196-A-G | c.4493T>C | p.Met1498Thr | Missense | 26/28 | - | 6 |
3-38597196-AT-GC | c.4492_4493delinsGC | p.Met1498Ala | Missense | 26/28 | - | 1 |
3-38597197-T-C | c.4492A>G | p.Met1498Val | Missense | 26/28 | - | 1 |
3-38597204-G-T | c.4485C>A | p.Tyr1495* | Nonsense | 26/28 | - | 1 |
3-38597205-TA-GC | c.4483_4484delinsGC | p.Tyr1495Ala | Missense | 26/28 | - | 1 |
3-38597205-T-A | c.4484A>T | p.Tyr1495Phe | Missense | 26/28 | - | 2 |
3-38597205-T-G | c.4484A>C | p.Tyr1495Ser | Missense | 26/28 | - | 3 |
3-38597208-TA-GC | c.4480_4481delinsGC | p.Tyr1494Ala | Missense | 26/28 | - | 2 |
3-38597208-TA-CT | c.4480_4481delinsAG | p.Tyr1494Ser | Missense | 26/28 | - | 1 |
3-38597209-A-T | c.4480T>A | p.Tyr1494Asn | Missense | 26/28 | - | 7 |
3-38597211-TT-GC | c.4477_4478delinsGC | p.Lys1493Ala | Missense | 26/28 | - | 2 |
3-38597211-T-C | c.4478A>G | p.Lys1493Arg | Missense | 26/28 | - | 8 |
3-38597212-T-C | c.4477A>G | p.Lys1493Glu | Missense | 26/28 | - | 2 |
3-38597212-T-A | c.4477A>T | p.Lys1493* | Nonsense | 26/28 | - | 2 |
3-38597215-T-C | c.4474A>G | p.Lys1492Glu | Missense | 26/28 | - | 1 |
3-38597215-TTCT-T | c.4477_4479del | p.Lys1493del | InFrameDeletion | 26/28 | - | 2 |
3-38597222-C-A | c.4467G>T | p.Glu1489Asp | Missense | 26/28 | - | 3 |
3-38597223-T-G | c.4466A>C | p.Glu1489Ala | Missense | 26/28 | - | 2 |
3-38597226-G-C | c.4463C>G | p.Thr1488Arg | Missense | 26/28 | - | 3 |
3-38597229-A-T | c.4460T>A | p.Met1487Lys | Missense | 26/28 | - | 1 |
3-38597230-T-G | c.4459A>C | p.Met1487Leu | Missense | 26/28 | - | 4 |
3-38597231-GAA-CAA | c.4458delinsG | p.Phe1486Leu | Missense | 26/28 | - | 2 |
3-38597232-A-C | c.4457T>G | p.Phe1486Cys | Missense | 26/28 | - | 1 |
3-38597233-AAGA-A | c.4456_4458del | p.Phe1486del | InFrameDeletion | 26/28 | - | 4 |
3-38597231-G-T | c.4458C>A | p.Phe1486Leu | Missense | 26/28 | - | 10 |
3-38597231-G-C | c.4458C>G | p.Phe1486Leu | Missense | 26/28 | - | 9 |
3-38597233-A-G | c.4456T>C | p.Phe1486Leu | Missense | 26/28 | - | 10 |
3-38597236-T-C | c.4453A>G | p.Ile1485Val | Missense | 26/28 | - | 1 |
3-38597238-T-C | c.4451A>G | p.Asp1484Gly | Missense | 26/28 | - | 1 |
3-38597247-C-T | c.4442G>A | p.Gly1481Glu | Missense | 26/28 | - | 3 |
3-38597927-C-T | c.4437+5G>A | - | IntronicSNV | - | 25/27 | 1 |
3-38597933-TT-GC | c.4435_4436delinsGC | p.Lys1479Ala | Missense | 25/28 | - | 1 |
3-38597933-T-C | c.4436A>G | p.Lys1479Arg | Missense | 25/28 | - | 2 |
3-38597934-T-G | c.4435A>C | p.Lys1479Gln | Missense | 25/28 | - | 1 |
3-38597942-T-C | c.4427A>G | p.Gln1476Arg | Missense | 25/28 | - | 4 |
3-38597943-G-A | c.4426C>T | p.Gln1476* | Nonsense | 25/28 | - | 2 |
3-38597945-T-G | c.4424A>C | p.Gln1475Pro | Missense | 25/28 | - | 1 |
3-38597951-A-C | c.4418T>G | p.Phe1473Cys | Missense | 25/28 | - | 36 |
3-38597951-A-G | c.4418T>C | p.Phe1473Ser | Missense | 25/28 | - | 7 |
3-38597952-A-C | c.4417T>G | p.Phe1473Val | Missense | 25/28 | - | 1 |
3-38597954-TT-TG | c.4414delinsC | p.Asn1472His | Missense | 25/28 | - | 1 |
3-38597954-T-C | c.4415A>G | p.Asn1472Ser | Missense | 25/28 | - | 2 |
3-38597955-TTGT-T | c.4414_4416del | p.Asn1472del | InFrameDeletion | 25/28 | - | 3 |
3-38597967-C-CC | c.4402dup | p.Val1468Glyfs*4 | Frameshift | 25/28 | - | 1 |
3-38597967-C-A | c.4402G>T | p.Val1468Phe | Missense | 25/28 | - | 2 |
3-38597974-A-C | c.4395T>G | p.Phe1465Leu | Missense | 25/28 | - | 1 |
3-38597974-A-T | c.4395T>A | p.Phe1465Leu | Missense | 25/28 | - | 1 |
3-38597976-A-G | c.4393T>C | p.Phe1465Leu | Missense | 25/28 | - | 1 |
3-38597982-T-A | c.4387A>T | p.Asn1463Tyr | Missense | 25/28 | - | 2 |
3-38597984-A-T | c.4385T>A | p.Leu1462Gln | Missense | 25/28 | - | 1 |
3-38597987-G-A | c.4382C>T | p.Thr1461Ile | Missense | 25/28 | - | 1 |
3-38597987-G-C | c.4382C>G | p.Thr1461Ser | Missense | 25/28 | - | 1 |
3-38597988-T-A | c.4381A>T | p.Thr1461Ser | Missense | 25/28 | - | 1 |
3-38597996-G-T | c.4373C>A | p.Ser1458Tyr | Missense | 25/28 | - | 2 |
3-38598017-A-G | c.4352T>C | p.Val1451Ala | Missense | 25/28 | - | 1 |
3-38598017-A-T | c.4352T>A | p.Val1451Asp | Missense | 25/28 | - | 1 |
3-38598023-T-C | c.4346A>G | p.Tyr1449Cys | Missense | 25/28 | - | 5 |
3-38598024-A-G | c.4345T>C | p.Tyr1449His | Missense | 25/28 | - | 1 |
3-38598026-A-G | c.4343T>C | p.Ile1448Thr | Missense | 25/28 | - | 2 |
3-38598027-T-G | c.4342A>C | p.Ile1448Leu | Missense | 25/28 | - | 3 |
3-38598036-A-G | c.4333T>C | p.Tyr1445His | Missense | 25/28 | - | 1 |
3-38598041-T-C | c.4328A>G | p.Asn1443Ser | Missense | 25/28 | - | 1 |
3-38598048-C-G | c.4321G>C | p.Glu1441Gln | Missense | 25/28 | - | 1 |
3-38598056-G-A | c.4313C>T | p.Pro1438Leu | Missense | 25/28 | - | 1 |
3-38598335-C-T | c.4300-266G>A | - | IntronicSNV | - | 24/27 | 1 |
3-38598606-C-T | c.4299+116G>A | - | IntronicSNV | - | 24/27 | 6 |
3-38598606-C-A | c.4299+116G>T | - | IntronicSNV | - | 24/27 | 6 |
3-38598669-A-G | c.4299+53T>C | - | IntronicSNV | - | 24/27 | 2 |
3-38598723-C-T | c.4298G>A | p.Gly1433Glu | Missense | 24/28 | - | 1 |
3-38598723-C-A | c.4298G>T | p.Gly1433Val | Missense | 24/28 | - | 1 |
3-38598724-C-G | c.4297G>C | p.Gly1433Arg | Missense | 24/28 | - | 1 |
3-38598724-C-A | c.4297G>T | p.Gly1433Trp | Missense | 24/28 | - | 2 |
3-38598724-C-T | c.4297G>A | p.Gly1433Arg | Missense | 24/28 | - | 1 |
3-38598725-C-A | c.4296G>T | p.Arg1432Ser | Missense | 24/28 | - | 2 |
3-38598727-T-C | c.4294A>G | p.Arg1432Gly | Missense | 24/28 | - | 12 |
3-38598733-C-T | c.4288G>A | p.Asp1430Asn | Missense | 24/28 | - | 3 |
3-38598736-C-T | c.4285G>A | p.Val1429Met | Missense | 24/28 | - | 1 |
3-38598738-G-A | c.4283C>T | p.Ala1428Val | Missense | 24/28 | - | 3 |
3-38598739-C-A | c.4282G>T | p.Ala1428Ser | Missense | 24/28 | - | 8 |
3-38598742-C-A | c.4279G>T | p.Ala1427Ser | Missense | 24/28 | - | 2 |
3-38598759-C-T | c.4262G>A | p.Trp1421* | Nonsense | 24/28 | - | 8 |
3-38598762-C-A | c.4259G>T | p.Gly1420Val | Missense | 24/28 | - | 1 |
3-38598763-C-G | c.4258G>C | p.Gly1420Arg | Missense | 24/28 | - | 3 |
3-38598766-T-C | c.4255A>G | p.Lys1419Glu | Missense | 24/28 | - | 1 |
3-38598777-T-C | c.4246-2A>G | - | IntronicSNV | - | 23/27 | 1 |
3-38599037-G-A | c.4246-262C>T | - | IntronicSNV | - | 23/27 | 5 |
3-38601649-G-A | c.4234C>T | p.Leu1412Phe | Missense | 23/28 | - | 1 |
3-38601657-T-C | c.4226A>G | p.Tyr1409Cys | Missense | 23/28 | - | 2 |
3-38601661-C-T | c.4222G>A | p.Gly1408Arg | Missense | 23/28 | - | 17 |
3-38601665-CCC-TGT | c.4216_4218delinsACA | p.Gly1406Thr | Missense | 23/28 | - | 1 |
3-38601666-C-T | c.4217G>A | p.Gly1406Glu | Missense | 23/28 | - | 2 |
3-38601667-C-T | c.4216G>A | p.Gly1406Arg | Missense | 23/28 | - | 17 |
3-38601668-C-CC | c.4219dup | p.Ala1407Glyfs*13 | Frameshift | 23/28 | - | 1 |
3-38601670-C-T | c.4213G>A | p.Val1405Met | Missense | 23/28 | - | 2 |
3-38601670-C-G | c.4213G>C | p.Val1405Leu | Missense | 23/28 | - | 3 |
3-38601691-C-T | c.4192G>A | p.Val1398Met | Missense | 23/28 | - | 1 |
3-38601694-TT-T | c.4190del | p.Lys1397Argfs*2 | Frameshift | 23/28 | - | 1 |
3-38601705-A-T | c.4178T>A | p.Leu1393* | Nonsense | 23/28 | - | 1 |
3-38601712-C-T | c.4171G>A | p.Gly1391Arg | Missense | 23/28 | - | 2 |
3-38601738-C-A | c.4145G>T | p.Ser1382Ile | Missense | 23/28 | - | 2 |
3-38601743-G-C | c.4140C>G | p.Asn1380Lys | Missense | 23/28 | - | 3 |
3-38601746-TGTT-T | c.4140_4142del | p.Asn1380del | InFrameDeletion | 23/28 | - | 2 |
3-38601749-C-A | c.4134G>T | p.Val1378Val | Synonymous | 23/28 | - | 1 |
3-38601751-C-T | c.4132G>A | p.Val1378Met | Missense | 23/28 | - | 3 |
3-38601774-T-C | c.4109A>G | p.Asp1370Gly | Missense | 23/28 | - | 2 |
3-38601795-C-T | c.4088G>A | p.Cys1363Tyr | Missense | 23/28 | - | 1 |
3-38601804-A-C | c.4079T>G | p.Phe1360Cys | Missense | 23/28 | - | 1 |
3-38601806-C-G | c.4077G>C | p.Lys1359Asn | Missense | 23/28 | - | 1 |
3-38601806-C-A | c.4077G>T | p.Lys1359Asn | Missense | 23/28 | - | 1 |
3-38601811-C-A | c.4072G>T | p.Gly1358Trp | Missense | 23/28 | - | 1 |
3-38601813-G-A | c.4070C>T | p.Ala1357Val | Missense | 23/28 | - | 2 |
3-38601819-A-G | c.4064T>C | p.Leu1355Pro | Missense | 23/28 | - | 1 |
3-38601826-C-G | c.4057G>C | p.Val1353Leu | Missense | 23/28 | - | 1 |
3-38601826-C-A | c.4057G>T | p.Val1353Leu | Missense | 23/28 | - | 1 |
3-38601826-C-T | c.4057G>A | p.Val1353Met | Missense | 23/28 | - | 2 |
3-38601831-A-C | c.4052T>G | p.Met1351Arg | Missense | 23/28 | - | 2 |
3-38601846-A-G | c.4037T>C | p.Leu1346Pro | Missense | 23/28 | - | 1 |
3-38601847-G-T | c.4036C>A | p.Leu1346Ile | Missense | 23/28 | - | 1 |
3-38601848-C-A | c.4035G>T | p.Trp1345Cys | Missense | 23/28 | - | 1 |
3-38601852-A-G | c.4031T>C | p.Phe1344Ser | Missense | 23/28 | - | 7 |
3-38601851-G-T | c.4032C>A | p.Phe1344Leu | Missense | 23/28 | - | 1 |
3-38601851-G-C | c.4032C>G | p.Phe1344Leu | Missense | 23/28 | - | 1 |
3-38601853-A-G | c.4030T>C | p.Phe1344Leu | Missense | 23/28 | - | 1 |
3-38601858-A-G | c.4025T>C | p.Leu1342Pro | Missense | 23/28 | - | 1 |
3-38601865-C-T | c.4018G>A | p.Val1340Ile | Missense | 23/28 | - | 7 |
3-38601867-A-G | c.4016T>C | p.Leu1339Pro | Missense | 23/28 | - | 1 |
3-38601871-G-C | c.4012C>G | p.Leu1338Val | Missense | 23/28 | - | 2 |
3-38601883-T-C | c.4000A>G | p.Ile1334Val | Missense | 23/28 | - | 1 |
3-38601885-G-T | c.3998C>A | p.Ser1333Tyr | Missense | 23/28 | - | 5 |
3-38601888-G-A | c.3995C>T | p.Pro1332Leu | Missense | 23/28 | - | 9 |
3-38601894-G-T | c.3989C>A | p.Ala1330Asp | Missense | 23/28 | - | 1 |
3-38601895-C-T | c.3988G>A | p.Ala1330Thr | Missense | 23/28 | - | 2 |
3-38601895-C-G | c.3988G>C | p.Ala1330Pro | Missense | 23/28 | - | 10 |
3-38601897-C-G | c.3986G>C | p.Gly1329Ala | Missense | 23/28 | - | 1 |
3-38601898-C-T | c.3985G>A | p.Gly1329Ser | Missense | 23/28 | - | 2 |
3-38601901-C-T | c.3982G>A | p.Val1328Met | Missense | 23/28 | - | 2 |
3-38601905-GGC-TGG | c.3976_3978delinsCCA | p.Ala1326Pro | Missense | 23/28 | - | 1 |
3-38601905-G-C | c.3978C>G | p.Ala1326Ala | Synonymous | 23/28 | - | 1 |
3-38601907-C-A | c.3976G>T | p.Ala1326Ser | Missense | 23/28 | - | 1 |
3-38601907-C-G | c.3976G>C | p.Ala1326Pro | Missense | 23/28 | - | 2 |
3-38601909-T-C | c.3974A>G | p.Asn1325Ser | Missense | 23/28 | - | 33 |
3-38601915-A-C | c.3968T>G | p.Val1323Gly | Missense | 23/28 | - | 2 |
3-38603069-C-G | c.3963+837G>C | - | IntronicSNV | - | 22/27 | 1 |
3-38603904-A-G | c.3963+2T>C | - | IntronicSNV | - | 22/27 | 2 |
3-38603905-C-T | c.3963+1G>A | - | IntronicSNV | - | 22/27 | 1 |
3-38603911-T-C | c.3958A>G | p.Met1320Val | Missense | 22/28 | - | 2 |
3-38603913-C-A | c.3956G>T | p.Gly1319Val | Missense | 22/28 | - | 5 |
3-38603921-TCG-AGC | c.3946_3948delinsGCT | p.Arg1316Ala | Missense | 22/28 | - | 1 |
3-38603923-G-A | c.3946C>T | p.Arg1316* | Nonsense | 22/28 | - | 1 |
3-38603923-G-C | c.3946C>G | p.Arg1316Gly | Missense | 22/28 | - | 1 |
3-38603934-C-G | c.3935G>C | p.Arg1312Thr | Missense | 22/28 | - | 1 |
3-38603937-A-G | c.3932T>C | p.Leu1311Pro | Missense | 22/28 | - | 1 |
3-38603940-G-C | c.3929C>G | p.Pro1310Arg | Missense | 22/28 | - | 1 |
3-38603943-C-T | c.3926G>A | p.Arg1309His | Missense | 22/28 | - | 1 |
3-38603947-G-A | c.3922C>T | p.Leu1308Phe | Missense | 22/28 | - | 5 |
3-38603953-G-A | c.3916C>T | p.Arg1306Cys | Missense | 22/28 | - | 2 |
3-38603958-G-A | c.3911C>T | p.Thr1304Met | Missense | 22/28 | - | 19 |
3-38603969-CTT-TGT | c.3899_3900delinsCA | p.Lys1300Thr | Missense | 22/28 | - | 1 |
3-38603973-AT-TG | c.3895_3896delinsCA | p.Ile1299His | Missense | 22/28 | - | 1 |
3-38603976-G-A | c.3893C>T | p.Pro1298Leu | Missense | 22/28 | - | 13 |
3-38603978-G-GT | c.3890_3891insA | p.Ile1299Hisfs*20 | Frameshift | 22/28 | - | 1 |
3-38603978-G-T | c.3891C>A | p.Gly1297Gly | Synonymous | 22/28 | - | 1 |
3-38603978-G-A | c.3891C>T | p.Gly1297Gly | Synonymous | 22/28 | - | 1 |
3-38603978-G-C | c.3891C>G | p.Gly1297Gly | Synonymous | 22/28 | - | 1 |
3-38603981-CAT-TGT | c.3887_3888delinsCA | p.Met1296Thr | Missense | 22/28 | - | 5 |
3-38603986-C-T | c.3883G>A | p.Glu1295Lys | Missense | 22/28 | - | 7 |
3-38603991-A-G | c.3878T>C | p.Phe1293Ser | Missense | 22/28 | - | 5 |
3-38604006-G-C | c.3863C>G | p.Ala1288Gly | Missense | 22/28 | - | 1 |
3-38604016-T-C | c.3853A>G | p.Ser1285Gly | Missense | 22/28 | - | 1 |
3-38604022-G-T | c.3847C>A | p.Leu1283Met | Missense | 22/28 | - | 1 |
3-38605732-G-C | c.3841-1704C>G | - | IntronicSNV | - | 21/27 | 1 |
3-38606714-T-C | c.3840+1186A>G | - | IntronicSNV | - | 21/27 | 2 |
3-38607078-T-A | c.3840+822A>T | - | IntronicSNV | - | 21/27 | 1 |
3-38607078-T-G | c.3840+822A>C | - | IntronicSNV | - | 21/27 | 1 |
3-38607468-A-G | c.3840+432T>C | - | IntronicSNV | - | 21/27 | 1 |
3-38607899-C-T | c.3840+1G>A | - | IntronicSNV | - | 21/27 | 3 |
3-38607902-C-A | c.3838G>T | p.Asp1280Tyr | Missense | 21/28 | - | 1 |
3-38607905-C-T | c.3835G>A | p.Val1279Ile | Missense | 21/28 | - | 6 |
3-38607907-A-T | c.3833T>A | p.Ile1278Asn | Missense | 21/28 | - | 1 |
3-38607916-T-A | c.3824A>T | p.Asp1275Val | Missense | 21/28 | - | 1 |
3-38607917-C-T | c.3823G>A | p.Asp1275Asn | Missense | 21/28 | - | 58 |
3-38607927-C-A | c.3813G>T | p.Trp1271Cys | Missense | 21/28 | - | 1 |
3-38607927-C-G | c.3813G>C | p.Trp1271Cys | Missense | 21/28 | - | 1 |
3-38607934-T-C | c.3806A>G | p.Asn1269Ser | Missense | 21/28 | - | 1 |
3-38607945-C-A | c.3795G>T | p.Lys1265Asn | Missense | 21/28 | - | 1 |
3-38607953-A-G | c.3787T>C | p.Phe1263Leu | Missense | 21/28 | - | 1 |
3-38607951-G-C | c.3789C>G | p.Phe1263Leu | Missense | 21/28 | - | 1 |
3-38607951-G-T | c.3789C>A | p.Phe1263Leu | Missense | 21/28 | - | 1 |
3-38607956-C-T | c.3784G>A | p.Gly1262Ser | Missense | 21/28 | - | 4 |
3-38607957-G-A | c.3783C>T | p.Tyr1261Tyr | Synonymous | 21/28 | - | 1 |
3-38607961-G-T | c.3779C>A | p.Ala1260Asp | Missense | 21/28 | - | 1 |
3-38607982-T-C | c.3758A>G | p.Glu1253Gly | Missense | 21/28 | - | 2 |
3-38607989-C-T | c.3751G>A | p.Val1251Met | Missense | 21/28 | - | 1 |
3-38607992-A-G | c.3748T>C | p.Phe1250Leu | Missense | 21/28 | - | 6 |
3-38607994-A-T | c.3746T>A | p.Val1249Asp | Missense | 21/28 | - | 1 |
3-38608000-G-A | c.3740C>T | p.Thr1247Ile | Missense | 21/28 | - | 1 |
3-38608005-C-T | c.3735G>A | p.Met1245Ile | Missense | 21/28 | - | 1 |
3-38608013-C-T | c.3727G>A | p.Asp1243Asn | Missense | 21/28 | - | 5 |
3-38608018-T-G | c.3722A>C | p.Tyr1241Ser | Missense | 21/28 | - | 1 |
3-38608022-C-G | c.3718G>C | p.Glu1240Gln | Missense | 21/28 | - | 2 |
3-38608032-C-G | c.3708G>C | p.Lys1236Asn | Missense | 21/28 | - | 1 |
3-38608032-C-A | c.3708G>T | p.Lys1236Asn | Missense | 21/28 | - | 1 |
3-38608045-C-T | c.3695G>A | p.Arg1232Gln | Missense | 21/28 | - | 2 |
3-38608046-G-A | c.3694C>T | p.Arg1232Trp | Missense | 21/28 | - | 11 |
3-38608049-C-T | c.3691G>A | p.Glu1231Lys | Missense | 21/28 | - | 1 |
3-38608058-A-G | c.3682T>C | p.Tyr1228His | Missense | 21/28 | - | 1 |
3-38608067-C-T | c.3673G>A | p.Glu1225Lys | Missense | 21/28 | - | 5 |
3-38609218-A-C | c.3667-1145T>G | - | IntronicSNV | - | 20/27 | 1 |
3-38615316-C-T | c.3666+1472G>A | - | IntronicSNV | - | 20/27 | 1 |
3-38616798-C-T | c.3656G>A | p.Ser1219Asn | Missense | 20/28 | - | 1 |
3-38616801-C-A | c.3653G>T | p.Ser1218Ile | Missense | 20/28 | - | 3 |
3-38616832-C-T | c.3622G>A | p.Glu1208Lys | Missense | 20/28 | - | 1 |
3-38616832-C-A | c.3622G>T | p.Glu1208* | Nonsense | 20/28 | - | 1 |
3-38616850-C-T | c.3604G>A | p.Val1202Met | Missense | 20/28 | - | 1 |
3-38616858-T-G | c.3596A>C | p.Tyr1199Ser | Missense | 20/28 | - | 1 |
3-38616870-C-T | c.3584G>A | p.Arg1195His | Missense | 20/28 | - | 4 |
3-38616871-G-A | c.3583C>T | p.Arg1195Cys | Missense | 20/28 | - | 1 |
3-38616876-C-T | c.3578G>A | p.Arg1193Gln | Missense | 20/28 | - | 61 |
3-38616879-C-T | c.3575G>A | p.Trp1192* | Nonsense | 20/28 | - | 3 |
3-38616898-C-T | c.3556G>A | p.Ala1186Thr | Missense | 20/28 | - | 2 |
3-38616908-G-A | c.3546C>T | p.Asp1182Asp | Synonymous | 20/28 | - | 1 |
3-38616915-G-A | c.3539C>T | p.Ala1180Val | Missense | 20/28 | - | 10 |
3-38616921-CA-GC | c.3532_3533delinsGC | p.Cys1178Ala | Missense | 20/28 | - | 1 |
3-38616924-G-A | c.3530C>T | p.Pro1177Leu | Missense | 20/28 | - | 1 |
3-38616924-G-C | c.3530C>G | p.Pro1177Arg | Missense | 20/28 | - | 2 |
3-38616931-G-A | c.3523C>T | p.Arg1175Cys | Missense | 20/28 | - | 1 |
3-38617126-A-T | c.3512-184T>A | - | IntronicSNV | - | 19/27 | 1 |
3-38617126-A-G | c.3512-184T>C | - | IntronicSNV | - | 19/27 | 1 |
3-38618167-C-T | c.3496G>A | p.Asp1166Asn | Missense | 19/28 | - | 1 |
3-38618174-G-T | c.3489C>A | p.Asp1163Glu | Missense | 19/28 | - | 1 |
3-38618174-G-C | c.3489C>G | p.Asp1163Glu | Missense | 19/28 | - | 1 |
3-38618191-C-T | c.3472G>A | p.Gly1158Ser | Missense | 19/28 | - | 1 |
3-38618244-C-G | c.3419G>C | p.Ser1140Thr | Missense | 19/28 | - | 3 |
3-38618259-C-A | c.3404G>T | p.Ser1135Ile | Missense | 19/28 | - | 2 |
3-38618271-G-A | c.3392C>T | p.Thr1131Ile | Missense | 19/28 | - | 4 |
3-38620827-C-A | c.3388G>T | p.Glu1130* | Nonsense | 18/28 | - | 1 |
3-38620852-C-A | c.3363G>T | p.Ala1121Ala | Synonymous | 18/28 | - | 1 |
3-38620852-C-T | c.3363G>A | p.Ala1121Ala | Synonymous | 18/28 | - | 1 |
3-38620852-C-G | c.3363G>C | p.Ala1121Ala | Synonymous | 18/28 | - | 1 |
3-38620858-C-T | c.3357G>A | p.Trp1119* | Nonsense | 18/28 | - | 1 |
3-38620859-C-T | c.3356G>A | p.Trp1119* | Nonsense | 18/28 | - | 1 |
3-38620863-G-A | c.3352C>T | p.Gln1118* | Nonsense | 18/28 | - | 2 |
3-38620868-C-T | c.3347G>A | p.Arg1116Gln | Missense | 18/28 | - | 2 |
3-38620869-G-A | c.3346C>T | p.Arg1116Trp | Missense | 18/28 | - | 1 |
3-38620875-C-T | c.3340G>A | p.Asp1114Asn | Missense | 18/28 | - | 3 |
3-38620877-G-A | c.3338C>T | p.Ala1113Val | Missense | 18/28 | - | 3 |
3-38620878-C-T | c.3337G>A | p.Ala1113Thr | Missense | 18/28 | - | 1 |
3-38620896-C-T | c.3319G>A | p.Glu1107Lys | Missense | 18/28 | - | 3 |
3-38620898-G-GG | c.3318dup | p.Glu1107Argfs*24 | Frameshift | 18/28 | - | 1 |
3-38620899-C-A | c.3316G>T | p.Ala1106Ser | Missense | 18/28 | - | 1 |
3-38620907-G-T | c.3308C>A | p.Ser1103Tyr | Missense | 18/28 | - | 90 |
3-38620907-G-A | c.3308C>T | p.Ser1103Phe | Missense | 18/28 | - | 11 |
3-38620910-G-T | c.3305C>A | p.Ala1102Asp | Missense | 18/28 | - | 1 |
3-38620916-G-A | c.3299C>T | p.Ala1100Val | Missense | 18/28 | - | 1 |
3-38620923-C-A | c.3292G>T | p.Val1098Leu | Missense | 18/28 | - | 2 |
3-38620931-C-T | c.3284G>A | p.Trp1095* | Nonsense | 18/28 | - | 3 |
3-38620946-G-A | c.3269C>T | p.Pro1090Leu | Missense | 18/28 | - | 14 |
3-38620952-G-A | c.3263C>T | p.Ala1088Val | Missense | 18/28 | - | 1 |
3-38620965-C-G | c.3250G>C | p.Gly1084Arg | Missense | 18/28 | - | 1 |
3-38620965-C-T | c.3250G>A | p.Gly1084Ser | Missense | 18/28 | - | 4 |
3-38620979-G-T | c.3236C>A | p.Ser1079Tyr | Missense | 18/28 | - | 1 |
3-38621237-C-G | c.3229-251G>C | - | IntronicSNV | - | 17/27 | 3 |
3-38622428-G-C | c.3222C>G | p.Ser1074Arg | Missense | 17/28 | - | 2 |
3-38622428-G-T | c.3222C>A | p.Ser1074Arg | Missense | 17/28 | - | 2 |
3-38622430-T-G | c.3220A>C | p.Ser1074Arg | Missense | 17/28 | - | 2 |
3-38622436-C-A | c.3214G>T | p.Glu1072* | Nonsense | 17/28 | - | 1 |
3-38622444-G-A | c.3206C>T | p.Thr1069Met | Missense | 17/28 | - | 1 |
3-38622460-C-T | c.3190G>A | p.Glu1064Lys | Missense | 17/28 | - | 1 |
3-38622467-T-G | c.3183A>C | p.Glu1061Asp | Missense | 17/28 | - | 5 |
3-38622467-T-C | c.3183A>G | p.Glu1061Glu | Synonymous | 17/28 | - | 13 |
3-38622475-G-A | c.3175C>T | p.Gln1059* | Nonsense | 17/28 | - | 1 |
3-38622486-T-C | c.3164A>G | p.Asp1055Gly | Missense | 17/28 | - | 1 |
3-38622489-G-T | c.3161C>A | p.Ser1054* | Nonsense | 17/28 | - | 1 |
3-38622493-C-A | c.3157G>T | p.Glu1053* | Nonsense | 17/28 | - | 1 |
3-38622493-C-T | c.3157G>A | p.Glu1053Lys | Missense | 17/28 | - | 38 |
3-38622529-C-T | c.3121G>A | p.Asp1041Asn | Missense | 17/28 | - | 1 |
3-38622540-C-A | c.3110G>T | p.Gly1037Val | Missense | 17/28 | - | 2 |
3-38622570-C-G | c.3080G>C | p.Arg1027Pro | Missense | 17/28 | - | 1 |
3-38622570-C-T | c.3080G>A | p.Arg1027Gln | Missense | 17/28 | - | 2 |
3-38622575-T-A | c.3075A>T | p.Glu1025Asp | Missense | 17/28 | - | 1 |
3-38622575-T-G | c.3075A>C | p.Glu1025Asp | Missense | 17/28 | - | 1 |
3-38622582-C-G | c.3068G>C | p.Arg1023Pro | Missense | 17/28 | - | 1 |
3-38622582-C-T | c.3068G>A | p.Arg1023His | Missense | 17/28 | - | 7 |
3-38622583-G-A | c.3067C>T | p.Arg1023Cys | Missense | 17/28 | - | 3 |
3-38622589-G-A | c.3061C>T | p.Pro1021Ser | Missense | 17/28 | - | 1 |
3-38622598-T-C | c.3052A>G | p.Lys1018Glu | Missense | 17/28 | - | 1 |
3-38622602-C-T | c.3048G>A | p.Thr1016Thr | Synonymous | 17/28 | - | 1 |
3-38622602-C-A | c.3048G>T | p.Thr1016Thr | Synonymous | 17/28 | - | 1 |
3-38622602-C-G | c.3048G>C | p.Thr1016Thr | Synonymous | 17/28 | - | 1 |
3-38622603-G-A | c.3047C>T | p.Thr1016Met | Missense | 17/28 | - | 1 |
3-38622607-C-T | c.3043G>A | p.Glu1015Lys | Missense | 17/28 | - | 1 |
3-38622618-G-A | c.3032C>T | p.Pro1011Leu | Missense | 17/28 | - | 2 |
3-38622619-G-A | c.3031C>T | p.Pro1011Ser | Missense | 17/28 | - | 1 |
3-38622628-G-A | c.3022C>T | p.Pro1008Ser | Missense | 17/28 | - | 5 |
3-38622630-G-A | c.3020C>T | p.Thr1007Ile | Missense | 17/28 | - | 1 |
3-38622636-A-G | c.3014T>C | p.Ile1005Thr | Missense | 17/28 | - | 1 |
3-38622640-A-G | c.3010T>C | p.Cys1004Arg | Missense | 17/28 | - | 4 |
3-38622646-G-A | c.3004C>T | p.Pro1002Ser | Missense | 17/28 | - | 1 |
3-38622651-T-A | c.2999A>T | p.Gln1000Leu | Missense | 17/28 | - | 1 |
3-38622652-G-T | c.2998C>A | p.Gln1000Lys | Missense | 17/28 | - | 1 |
3-38622660-G-T | c.2990C>A | p.Ala997Asp | Missense | 17/28 | - | 2 |
3-38622661-C-T | c.2989G>A | p.Ala997Thr | Missense | 17/28 | - | 6 |
3-38622661-C-A | c.2989G>T | p.Ala997Ser | Missense | 17/28 | - | 10 |
3-38622667-G-A | c.2983C>T | p.Leu995Phe | Missense | 17/28 | - | 1 |
3-38622673-C-T | c.2977G>A | p.Ala993Thr | Missense | 17/28 | - | 1 |
3-38622688-G-A | c.2962C>T | p.Arg988Trp | Missense | 17/28 | - | 3 |
3-38622693-C-T | c.2957G>A | p.Arg986Gln | Missense | 17/28 | - | 3 |
3-38622702-C-T | c.2948G>A | p.Gly983Asp | Missense | 17/28 | - | 2 |
3-38622706-A-G | c.2944T>C | p.Cys982Arg | Missense | 17/28 | - | 1 |
3-38622708-C-A | c.2942G>T | p.Cys981Phe | Missense | 17/28 | - | 3 |
3-38622708-CA-GC | c.2941_2942delinsGC | p.Cys981Ala | Missense | 17/28 | - | 1 |
3-38622726-C-G | c.2924G>C | p.Arg975Pro | Missense | 17/28 | - | 1 |
3-38622727-G-A | c.2923C>T | p.Arg975Trp | Missense | 17/28 | - | 4 |
3-38622728-CTT-GAC | c.2920_2922delinsGTC | p.Lys974Val | Missense | 17/28 | - | 1 |
3-38622739-G-A | c.2911C>T | p.Arg971Cys | Missense | 17/28 | - | 1 |
3-38622745-C-A | c.2905G>T | p.Gly969Cys | Missense | 17/28 | - | 1 |
3-38622756-C-T | c.2894G>A | p.Arg965His | Missense | 17/28 | - | 3 |
3-38622756-C-A | c.2894G>T | p.Arg965Leu | Missense | 17/28 | - | 1 |
3-38622757-G-A | c.2893C>T | p.Arg965Cys | Missense | 17/28 | - | 8 |
3-38622772-G-T | c.2878C>A | p.Gln960Lys | Missense | 17/28 | - | 1 |
3-38622783-A-T | c.2867T>A | p.Met956Lys | Missense | 17/28 | - | 1 |
3-38622789-TCT-T | c.2865_2866del | p.Glu955Aspfs*74 | Frameshift | 17/28 | - | 1 |
3-38622828-GA-AA | c.2822delinsT | p.Ser941Phe | Missense | 17/28 | - | 6 |
3-38622831-CT-TT | c.2819delinsA | p.Ser940Asn | Missense | 17/28 | - | 1 |
3-38622846-A-G | c.2804T>C | p.Leu935Pro | Missense | 17/28 | - | 1 |
3-38622868-G-A | c.2788-6C>T | - | IntronicSNV | - | 16/27 | 1 |
3-38623690-T-G | c.2788-828A>C | - | IntronicSNV | - | 16/27 | 1 |
3-38624253-T-C | c.2788-1391A>G | - | IntronicSNV | - | 16/27 | 15 |
3-38624343-A-G | c.2788-1481T>C | - | IntronicSNV | - | 16/27 | 1 |
3-38625709-A-T | c.2787+1473T>A | - | IntronicSNV | - | 16/27 | 1 |
3-38626065-C-A | c.2787+1117G>T | - | IntronicSNV | - | 16/27 | 1 |
3-38627186-A-G | c.2783T>C | p.Leu928Pro | Missense | 16/28 | - | 1 |
3-38627189-T-C | c.2780A>G | p.Asn927Ser | Missense | 16/28 | - | 2 |
3-38627214-A-G | c.2755T>C | p.Phe919Leu | Missense | 16/28 | - | 1 |
3-38627212-G-C | c.2757C>G | p.Phe919Leu | Missense | 16/28 | - | 1 |
3-38627212-G-T | c.2757C>A | p.Phe919Leu | Missense | 16/28 | - | 1 |
3-38627219-A-C | c.2750T>G | p.Leu917Arg | Missense | 16/28 | - | 1 |
3-38627226-A-G | c.2743T>C | p.Cys915Arg | Missense | 16/28 | - | 1 |
3-38627234-T-C | c.2735A>G | p.Gln912Arg | Missense | 16/28 | - | 1 |
3-38627240-G-A | c.2729C>T | p.Ser910Leu | Missense | 16/28 | - | 4 |
3-38627268-C-T | c.2701G>A | p.Glu901Lys | Missense | 16/28 | - | 3 |
3-38627276-T-G | c.2693A>C | p.Glu898Ala | Missense | 16/28 | - | 1 |
3-38627279-C-T | c.2690G>A | p.Gly897Glu | Missense | 16/28 | - | 1 |
3-38627283-A-T | c.2686T>A | p.Cys896Ser | Missense | 16/28 | - | 1 |
3-38627282-C-G | c.2687G>C | p.Cys896Ser | Missense | 16/28 | - | 1 |
3-38627291-C-T | c.2678G>A | p.Arg893His | Missense | 16/28 | - | 4 |
3-38627292-G-A | c.2677C>T | p.Arg893Cys | Missense | 16/28 | - | 3 |
3-38627295-A-T | c.2674T>A | p.Phe892Ile | Missense | 16/28 | - | 2 |
3-38627300-A-G | c.2669T>C | p.Ile890Thr | Missense | 16/28 | - | 4 |
3-38627311-A-T | c.2658T>A | p.His886Gln | Missense | 16/28 | - | 2 |
3-38627312-T-G | c.2657A>C | p.His886Pro | Missense | 16/28 | - | 2 |
3-38627329-G-T | c.2640C>A | p.His880Gln | Missense | 16/28 | - | 1 |
3-38627329-G-C | c.2640C>G | p.His880Gln | Missense | 16/28 | - | 1 |
3-38627335-GCG-AAG | c.2633_2634delinsTT | p.Arg878Leu | Missense | 16/28 | - | 1 |
3-38627336-C-T | c.2633G>A | p.Arg878His | Missense | 16/28 | - | 4 |
3-38627337-G-A | c.2632C>T | p.Arg878Cys | Missense | 16/28 | - | 15 |
3-38627341-CAG-ATC | c.2626_2628delinsGAT | p.Leu876Asp | Missense | 16/28 | - | 1 |
3-38627345-A-T | c.2624T>A | p.Leu875Gln | Missense | 16/28 | - | 1 |
3-38627346-G-A | c.2623C>T | p.Leu875Leu | Synonymous | 16/28 | - | 1 |
3-38627361-C-G | c.2608G>C | p.Asp870His | Missense | 16/28 | - | 1 |
3-38627387-AAA-A | c.2582_2583del | p.Phe861Trpfs*90 | Frameshift | 16/28 | - | 1 |
3-38627397-T-G | c.2572A>C | p.Met858Leu | Missense | 16/28 | - | 1 |
3-38627397-T-A | c.2572A>T | p.Met858Leu | Missense | 16/28 | - | 1 |
3-38627416-G-T | c.2553C>A | p.Phe851Leu | Missense | 16/28 | - | 2 |
3-38627420-AC-ACAC | c.2550_2551dup | p.Phe851Cysfs*19 | Frameshift | 16/28 | - | 1 |
3-38627421-C-T | c.2548G>A | p.Val850Met | Missense | 16/28 | - | 1 |
3-38627427-T-A | c.2542A>T | p.Ile848Phe | Missense | 16/28 | - | 1 |
3-38627432-A-C | c.2537T>G | p.Leu846Arg | Missense | 16/28 | - | 2 |
3-38627442-T-C | c.2527A>G | p.Thr843Ala | Missense | 16/28 | - | 1 |
3-38627446-G-C | c.2523C>G | p.Asn841Lys | Missense | 16/28 | - | 1 |
3-38627451-C-G | c.2518G>C | p.Gly840Arg | Missense | 16/28 | - | 1 |
3-38627451-C-T | c.2518G>A | p.Gly840Arg | Missense | 16/28 | - | 1 |
3-38627453-A-G | c.2516T>C | p.Leu839Pro | Missense | 16/28 | - | 1 |
3-38627469-T-C | c.2500A>G | p.Asn834Asp | Missense | 16/28 | - | 1 |
3-38627472-C-T | c.2497G>A | p.Gly833Arg | Missense | 16/28 | - | 2 |
3-38627485-G-A | c.2484C>T | p.Leu828Leu | Synonymous | 16/28 | - | 2 |
3-38627487-G-C | c.2482C>G | p.Leu828Val | Missense | 16/28 | - | 1 |
3-38627487-G-A | c.2482C>T | p.Leu828Phe | Missense | 16/28 | - | 1 |
3-38627503-C-T | c.2466G>A | p.Trp822* | Nonsense | 16/28 | - | 5 |
3-38627503-C-G | c.2466G>C | p.Trp822Cys | Missense | 16/28 | - | 1 |
3-38627503-C-A | c.2466G>T | p.Trp822Cys | Missense | 16/28 | - | 1 |
3-38627504-C-T | c.2465G>A | p.Trp822* | Nonsense | 16/28 | - | 4 |
3-38627520-T-C | c.2449A>G | p.Lys817Glu | Missense | 16/28 | - | 1 |
3-38627522-A-T | c.2447T>A | p.Phe816Tyr | Missense | 16/28 | - | 3 |
3-38627528-C-T | c.2441G>A | p.Arg814Gln | Missense | 16/28 | - | 9 |
3-38627529-G-A | c.2440C>T | p.Arg814Trp | Missense | 16/28 | - | 17 |
3-38627537-G-T | c.2437-5C>A | - | IntronicSNV | - | 15/27 | 3 |
3-38627629-A-T | c.2437-97T>A | - | IntronicSNV | - | 15/27 | 2 |
3-38627629-A-G | c.2437-97T>C | - | IntronicSNV | - | 15/27 | 2 |
3-38627825-A-G | c.2437-293T>C | - | IntronicSNV | - | 15/27 | 1 |
3-38627930-G-C | c.2437-398C>G | - | IntronicSNV | - | 15/27 | 1 |
3-38628642-A-G | c.2436+249T>C | - | IntronicSNV | - | 15/27 | 1 |
3-38628661-C-A | c.2436+230G>T | - | IntronicSNV | - | 15/27 | 1 |
3-38628879-C-T | c.2436+12G>A | - | IntronicSNV | - | 15/27 | 1 |
3-38628892-A-T | c.2435T>A | p.Leu812Gln | Missense | 15/28 | - | 4 |
3-38628895-C-T | c.2432G>A | p.Arg811His | Missense | 15/28 | - | 8 |
3-38628904-C-G | c.2423G>C | p.Arg808Pro | Missense | 15/28 | - | 4 |
3-38628905-G-A | c.2422C>T | p.Arg808Cys | Missense | 15/28 | - | 1 |
3-38628912-CG-GT | c.2414_2415delinsAC | p.Ser805Tyr | Missense | 15/28 | - | 3 |
3-38628924-C-G | c.2403G>C | p.Met801Ile | Missense | 15/28 | - | 1 |
3-38628924-C-T | c.2403G>A | p.Met801Ile | Missense | 15/28 | - | 1 |
3-38628924-C-A | c.2403G>T | p.Met801Ile | Missense | 15/28 | - | 1 |
3-38628928-C-A | c.2399G>T | p.Arg800Leu | Missense | 15/28 | - | 4 |
3-38628928-CG-GA | c.2398_2399delinsTC | p.Arg800Ser | Missense | 15/28 | - | 1 |
3-38628938-C-T | c.2389G>A | p.Gly797Ser | Missense | 15/28 | - | 1 |
3-38628948-G-A | c.2379C>T | p.Leu793Leu | Synonymous | 15/28 | - | 1 |
3-38628953-T-TT | c.2374dup | p.Ser792Lysfs*160 | Frameshift | 15/28 | - | 1 |
3-38628962-C-T | c.2365G>A | p.Val789Ile | Missense | 15/28 | - | 2 |
3-38628974-C-T | c.2353G>A | p.Asp785Asn | Missense | 15/28 | - | 1 |
3-38628992-G-A | c.2335C>T | p.Gln779* | Nonsense | 15/28 | - | 2 |
3-38628992-G-T | c.2335C>A | p.Gln779Lys | Missense | 15/28 | - | 2 |
3-38629010-G-A | c.2317C>T | p.Pro773Ser | Missense | 15/28 | - | 1 |
3-38629013-C-T | c.2314G>A | p.Asp772Asn | Missense | 15/28 | - | 4 |
3-38629036-A-C | c.2291T>G | p.Met764Arg | Missense | 15/28 | - | 2 |
3-38629036-A-T | c.2291T>A | p.Met764Lys | Missense | 15/28 | - | 1 |
3-38629052-T-A | c.2275A>T | p.Ile759Phe | Missense | 15/28 | - | 3 |
3-38629056-CTGTG-C | c.2268_2271del | p.Phe756Leufs*8 | Frameshift | 15/28 | - | 1 |
3-38629479-T-C | c.2263-415A>G | - | IntronicSNV | - | 14/27 | 1 |
3-38629767-A-C | c.2263-703T>G | - | IntronicSNV | - | 14/27 | 1 |
3-38629814-G-A | c.2263-750C>T | - | IntronicSNV | - | 14/27 | 1 |
3-38629814-G-C | c.2263-750C>G | - | IntronicSNV | - | 14/27 | 1 |
3-38629864-C-T | c.2263-800G>A | - | IntronicSNV | - | 14/27 | 1 |
3-38629864-C-G | c.2263-800G>C | - | IntronicSNV | - | 14/27 | 1 |
3-38629866-C-A | c.2263-802G>T | - | IntronicSNV | - | 14/27 | 1 |
3-38630182-G-A | c.2263-1118C>T | - | IntronicSNV | - | 14/27 | 1 |
3-38630274-C-T | c.2263-1210G>A | - | IntronicSNV | - | 14/27 | 1 |
3-38630511-T-C | c.2263-1447A>G | - | IntronicSNV | - | 14/27 | 1 |
3-38633923-G-C | c.2263-4859C>G | - | IntronicSNV | - | 14/27 | 25 |
3-38634142-C-A | c.2262+5078G>T | - | IntronicSNV | - | 14/27 | 1 |
3-38639228-C-G | c.2254G>C | p.Gly752Arg | Missense | 14/28 | - | 2 |
3-38639228-C-T | c.2254G>A | p.Gly752Arg | Missense | 14/28 | - | 3 |
3-38639233-T-C | c.2249A>G | p.Gln750Arg | Missense | 14/28 | - | 3 |
3-38639246-C-T | c.2236G>A | p.Glu746Lys | Missense | 14/28 | - | 3 |
3-38639264-TTGT-T | c.2219_2221del | p.Asn740del | InFrameDeletion | 14/28 | - | 1 |
3-38639278-G-A | c.2204C>T | p.Ala735Val | Missense | 14/28 | - | 9 |
3-38639278-G-C | c.2204C>G | p.Ala735Gly | Missense | 14/28 | - | 1 |
3-38639278-G-T | c.2204C>A | p.Ala735Glu | Missense | 14/28 | - | 2 |
3-38639284-AA-CC | c.2197_2198delinsGG | p.Phe733Gly | Missense | 14/28 | - | 1 |
3-38639285-A-C | c.2197T>G | p.Phe733Val | Missense | 14/28 | - | 1 |
3-38639288-G-C | c.2194C>G | p.Leu732Val | Missense | 14/28 | - | 1 |
3-38639290-G-A | c.2192C>T | p.Thr731Ile | Missense | 14/28 | - | 2 |
3-38639295-TGAG-T | c.2185_2187del | p.Leu729del | InFrameDeletion | 14/28 | - | 3 |
3-38639314-A-AA | c.2168dup | p.Thr724Hisfs*21 | Frameshift | 14/28 | - | 1 |
3-38639320-A-G | c.2162T>C | p.Leu721Pro | Missense | 14/28 | - | 1 |
3-38639332-G-A | c.2150C>T | p.Pro717Leu | Missense | 14/28 | - | 1 |
3-38639356-C-A | c.2126G>T | p.Gly709Val | Missense | 14/28 | - | 1 |
3-38639357-C-G | c.2125G>C | p.Gly709Arg | Missense | 14/28 | - | 1 |
3-38639380-G-A | c.2102C>T | p.Pro701Leu | Missense | 14/28 | - | 2 |
3-38639390-C-A | c.2092G>T | p.Glu698* | Nonsense | 14/28 | - | 1 |
3-38639391-C-T | c.2091G>A | p.Trp697* | Nonsense | 14/28 | - | 1 |
3-38639408-G-T | c.2074C>A | p.Gln692Lys | Missense | 14/28 | - | 5 |
3-38639416-C-T | c.2066G>A | p.Arg689His | Missense | 14/28 | - | 11 |
3-38639417-G-A | c.2065C>T | p.Arg689Cys | Missense | 14/28 | - | 2 |
3-38639431-G-A | c.2051C>T | p.Pro684Leu | Missense | 14/28 | - | 1 |
3-38639435-A-C | c.2047T>G | p.Cys683Gly | Missense | 14/28 | - | 1 |
3-38639440-T-G | c.2042A>C | p.His681Pro | Missense | 14/28 | - | 3 |
3-38639443-C-T | c.2039G>A | p.Arg680His | Missense | 14/28 | - | 14 |
3-38640414-A-G | c.2018T>C | p.Leu673Pro | Missense | 13/28 | - | 1 |
3-38640418-C-T | c.2014G>A | p.Ala672Thr | Missense | 13/28 | - | 1 |
3-38640448-C-A | c.1984G>T | p.Ala662Ser | Missense | 13/28 | - | 1 |
3-38640451-G-A | c.1981C>T | p.Arg661Trp | Missense | 13/28 | - | 1 |
3-38640457-G-A | c.1975C>T | p.Arg659Trp | Missense | 13/28 | - | 1 |
3-38640461-TCC-TGT | c.1969_1970delinsAC | p.Gly657Thr | Missense | 13/28 | - | 1 |
3-38640461-TCC-AGC | c.1970_1971delinsCT | p.Gly657Ala | Missense | 13/28 | - | 1 |
3-38640463-C-G | c.1969G>C | p.Gly657Arg | Missense | 13/28 | - | 1 |
3-38640463-C-T | c.1969G>A | p.Gly657Arg | Missense | 13/28 | - | 1 |
3-38640465-G-A | c.1967C>T | p.Pro656Leu | Missense | 13/28 | - | 1 |
3-38640469-C-T | c.1963G>A | p.Glu655Lys | Missense | 13/28 | - | 3 |
3-38640472-C-A | c.1960G>T | p.Glu654* | Nonsense | 13/28 | - | 1 |
3-38640472-C-T | c.1960G>A | p.Glu654Lys | Missense | 13/28 | - | 2 |
3-38640489-G-A | c.1943C>T | p.Pro648Leu | Missense | 13/28 | - | 4 |
3-38640492-G-A | c.1940C>T | p.Ala647Val | Missense | 13/28 | - | 1 |
3-38640492-G-T | c.1940C>A | p.Ala647Asp | Missense | 13/28 | - | 3 |
3-38640495-T-C | c.1937A>G | p.Gln646Arg | Missense | 13/28 | - | 1 |
3-38640498-GG-G | c.1936del | p.Gln646Argfs*5 | Frameshift | 13/28 | - | 1 |
3-38640514-G-C | c.1918C>G | p.Pro640Ala | Missense | 13/28 | - | 1 |
3-38640517-C-G | c.1915G>C | p.Gly639Arg | Missense | 13/28 | - | 1 |
3-38640517-C-T | c.1915G>A | p.Gly639Arg | Missense | 13/28 | - | 1 |
3-38640520-C-T | c.1912G>A | p.Gly638Ser | Missense | 13/28 | - | 1 |
3-38640522-G-A | c.1910C>T | p.Pro637Leu | Missense | 13/28 | - | 1 |
3-38640537-G-A | c.1895C>T | p.Thr632Met | Missense | 13/28 | - | 2 |
3-38641134-A-C | c.1891-593T>G | - | IntronicSNV | - | 12/27 | 1 |
3-38643529-T-C | c.1890+1674A>G | - | IntronicSNV | - | 12/27 | 1 |
3-38645204-G-A | c.1889C>T | p.Thr630Met | Missense | 12/28 | - | 1 |
3-38645213-G-A | c.1880C>T | p.Pro627Leu | Missense | 12/28 | - | 2 |
3-38645221-T-TT | c.1872dup | p.Glu625Argfs*96 | Frameshift | 12/28 | - | 1 |
3-38645233-GCG-TGG | c.1859_1860delinsCA | p.Arg620Pro | Missense | 12/28 | - | 2 |
3-38645234-C-T | c.1859G>A | p.Arg620His | Missense | 12/28 | - | 7 |
3-38645235-G-A | c.1858C>T | p.Arg620Cys | Missense | 12/28 | - | 5 |
3-38645238-G-A | c.1855C>T | p.Leu619Phe | Missense | 12/28 | - | 11 |
3-38645241-G-A | c.1852C>T | p.Leu618Phe | Missense | 12/28 | - | 9 |
3-38645249-C-T | c.1844G>A | p.Gly615Glu | Missense | 12/28 | - | 13 |
3-38645252-G-A | c.1841C>T | p.Pro614Leu | Missense | 12/28 | - | 1 |
3-38645258-GT-CT | c.1835delinsG | p.Thr612Arg | Missense | 12/28 | - | 1 |
3-38645294-A-T | c.1799T>A | p.Val600Glu | Missense | 12/28 | - | 1 |
3-38645306-T-C | c.1787A>G | p.Asp596Gly | Missense | 12/28 | - | 1 |
3-38645311-AGT-GAG | c.1780_1782delinsCTC | p.Thr594Leu | Missense | 12/28 | - | 4 |
3-38645313-T-C | c.1780A>G | p.Thr594Ala | Missense | 12/28 | - | 2 |
3-38645315-CT-GC | c.1777_1778delinsGC | p.Ser593Ala | Missense | 12/28 | - | 1 |
3-38645317-G-C | c.1776C>G | p.Asn592Lys | Missense | 12/28 | - | 1 |
3-38645325-T-G | c.1768A>C | p.Lys590Gln | Missense | 12/28 | - | 1 |
3-38645327-C-T | c.1766G>A | p.Gly589Asp | Missense | 12/28 | - | 3 |
3-38645330-T-C | c.1763A>G | p.His588Arg | Missense | 12/28 | - | 5 |
3-38645333-GAGGGCG-G | c.1756_1761del | p.Ala586_Leu587del | InFrameDeletion | 12/28 | - | 1 |
3-38645342-C-A | c.1751G>T | p.Gly584Val | Missense | 12/28 | - | 1 |
3-38645343-C-T | c.1750G>A | p.Gly584Ser | Missense | 12/28 | - | 1 |
3-38645358-C-T | c.1735G>A | p.Gly579Arg | Missense | 12/28 | - | 2 |
3-38645373-C-G | c.1720G>C | p.Gly574Arg | Missense | 12/28 | - | 1 |
3-38645373-C-T | c.1720G>A | p.Gly574Arg | Missense | 12/28 | - | 1 |
3-38645374-CC-C | c.1721del | p.Gly574Aspfs*49 | Frameshift | 12/28 | - | 1 |
3-38645376-G-A | c.1717C>T | p.Gln573* | Nonsense | 12/28 | - | 2 |
3-38645376-G-C | c.1717C>G | p.Gln573Glu | Missense | 12/28 | - | 5 |
3-38645378-GC-TT | c.1714_1715delinsAA | p.Ala572Asn | Missense | 12/28 | - | 2 |
3-38645378-G-A | c.1715C>T | p.Ala572Val | Missense | 12/28 | - | 1 |
3-38645378-G-T | c.1715C>A | p.Ala572Asp | Missense | 12/28 | - | 30 |
3-38645379-C-A | c.1714G>T | p.Ala572Ser | Missense | 12/28 | - | 1 |
3-38645380-A-G | c.1713T>C | p.Ser571Ser | Synonymous | 12/28 | - | 1 |
3-38645380-ACT-GAG | c.1711_1713delinsCTC | p.Ser571Leu | Missense | 12/28 | - | 11 |
3-38645381-C-A | c.1712G>T | p.Ser571Ile | Missense | 12/28 | - | 1 |
3-38645381-CT-GC | c.1711_1712delinsGC | p.Ser571Ala | Missense | 12/28 | - | 8 |
3-38645384-G-T | c.1709C>A | p.Thr570Asn | Missense | 12/28 | - | 1 |
3-38645388-G-C | c.1705C>G | p.Arg569Gly | Missense | 12/28 | - | 2 |
3-38645388-G-A | c.1705C>T | p.Arg569Trp | Missense | 12/28 | - | 2 |
3-38645389-G-GG | c.1705dup | p.Arg569Profs*152 | Frameshift | 12/28 | - | 1 |
3-38645390-C-T | c.1703G>A | p.Arg568His | Missense | 12/28 | - | 2 |
3-38645391-G-A | c.1702C>T | p.Arg568Cys | Missense | 12/28 | - | 1 |
3-38645393-A-T | c.1700T>A | p.Leu567Gln | Missense | 12/28 | - | 10 |
3-38645412-G-A | c.1681C>T | p.Leu561Leu | Synonymous | 12/28 | - | 1 |
3-38645418-T-C | c.1675A>G | p.Thr559Ala | Missense | 12/28 | - | 1 |
3-38645420-T-C | c.1673A>G | p.His558Arg | Missense | 12/28 | - | 169 |
3-38645420-TG-AC | c.1672_1673delinsGT | p.His558Val | Missense | 12/28 | - | 1 |
3-38645430-C-A | c.1663G>T | p.Glu555* | Nonsense | 12/28 | - | 6 |
3-38645430-C-T | c.1663G>A | p.Glu555Lys | Missense | 12/28 | - | 1 |
3-38645439-C-A | c.1654G>T | p.Gly552Trp | Missense | 12/28 | - | 1 |
3-38645439-C-T | c.1654G>A | p.Gly552Arg | Missense | 12/28 | - | 3 |
3-38645439-C-G | c.1654G>C | p.Gly552Arg | Missense | 12/28 | - | 3 |
3-38645441-G-A | c.1652C>T | p.Ala551Val | Missense | 12/28 | - | 1 |
3-38645441-G-T | c.1652C>A | p.Ala551Glu | Missense | 12/28 | - | 1 |
3-38645442-C-T | c.1651G>A | p.Ala551Thr | Missense | 12/28 | - | 2 |
3-38645452-T-C | c.1641A>G | p.Glu547Glu | Synonymous | 12/28 | - | 1 |
3-38645455-ATC-TAA | c.1636_1638delinsTTA | p.Asp546Leu | Nonsense | 12/28 | - | 1 |
3-38645456-T-C | c.1637A>G | p.Asp546Gly | Missense | 12/28 | - | 1 |
3-38645467-ATC-AAG | c.1624_1625delinsCT | p.Asp542Leu | Missense | 12/28 | - | 1 |
3-38645468-T-G | c.1625A>C | p.Asp542Ala | Missense | 12/28 | - | 1 |
3-38645489-C-T | c.1604G>A | p.Arg535Gln | Missense | 12/28 | - | 9 |
3-38645490-G-A | c.1603C>T | p.Arg535* | Nonsense | 12/28 | - | 4 |
3-38645491-CCT-TGT | c.1601_1602delinsCA | p.Arg534Thr | Missense | 12/28 | - | 2 |
3-38645498-A-C | c.1595T>G | p.Phe532Cys | Missense | 12/28 | - | 4 |
3-38645505-A-C | c.1588T>G | p.Phe530Val | Missense | 12/28 | - | 1 |
3-38645510-CT-GC | c.1582_1583delinsGC | p.Ser528Ala | Missense | 12/28 | - | 2 |
3-38645511-T-A | c.1582A>T | p.Ser528Cys | Missense | 12/28 | - | 1 |
3-38645513-C-G | c.1580G>C | p.Gly527Ala | Missense | 12/28 | - | 1 |
3-38645514-C-G | c.1579G>C | p.Gly527Arg | Missense | 12/28 | - | 2 |
3-38645514-C-T | c.1579G>A | p.Gly527Arg | Missense | 12/28 | - | 4 |
3-38645516-C-T | c.1577G>A | p.Arg526His | Missense | 12/28 | - | 10 |
3-38645517-G-A | c.1576C>T | p.Arg526Cys | Missense | 12/28 | - | 1 |
3-38645518-G-A | c.1575C>T | p.Ser525Ser | Synonymous | 12/28 | - | 1 |
3-38645519-CT-TT | c.1574delinsA | p.Ser525Asn | Missense | 12/28 | - | 1 |
3-38645519-CT-GC | c.1573_1574delinsGC | p.Ser525Ala | Missense | 12/28 | - | 1 |
3-38645522-G-T | c.1571C>A | p.Ser524Tyr | Missense | 12/28 | - | 15 |
3-38645526-G-A | c.1567C>T | p.Arg523Cys | Missense | 12/28 | - | 6 |
3-38645534-A-C | c.1559T>G | p.Met520Arg | Missense | 12/28 | - | 1 |
3-38645537-G-A | c.1556C>T | p.Ser519Phe | Missense | 12/28 | - | 1 |
3-38645545-GCT-GAG | c.1546_1547delinsCT | p.Ser516Leu | Missense | 12/28 | - | 4 |
3-38645546-CT-GC | c.1546_1547delinsGC | p.Ser516Ala | Missense | 12/28 | - | 2 |
3-38645553-C-A | c.1540G>T | p.Gly514Cys | Missense | 12/28 | - | 13 |
3-38645555-C-T | c.1538G>A | p.Arg513His | Missense | 12/28 | - | 2 |
3-38645555-C-G | c.1538G>C | p.Arg513Pro | Missense | 12/28 | - | 1 |
3-38645556-G-A | c.1537C>T | p.Arg513Cys | Missense | 12/28 | - | 2 |
3-38645558-G-A | c.1535C>T | p.Thr512Ile | Missense | 12/28 | - | 9 |
3-38645571-G-A | c.1522C>T | p.His508Tyr | Missense | 12/28 | - | 1 |
3-38646227-CT-CA | c.1510delinsT | p.Arg504* | Missense | 11/28 | - | 1 |
3-38646236-T-C | c.1502A>G | p.Asp501Gly | Missense | 11/28 | - | 3 |
3-38646236-T-G | c.1502A>C | p.Asp501Ala | Missense | 11/28 | - | 1 |
3-38646237-C-T | c.1501G>A | p.Asp501Asn | Missense | 11/28 | - | 1 |
3-38646237-C-G | c.1501G>C | p.Asp501His | Missense | 11/28 | - | 1 |
3-38646291-A-C | c.1447T>G | p.Ser483Ala | Missense | 11/28 | - | 1 |
3-38646297-G-A | c.1441C>T | p.Arg481Trp | Missense | 11/28 | - | 6 |
3-38646298-T-G | c.1440A>C | p.Lys480Asn | Missense | 11/28 | - | 3 |
3-38646311-C-A | c.1427G>T | p.Ser476Ile | Missense | 11/28 | - | 1 |
3-38646328-G-C | c.1410C>G | p.Asn470Lys | Missense | 11/28 | - | 3 |
3-38646330-T-C | c.1408A>G | p.Asn470Asp | Missense | 11/28 | - | 1 |
3-38646335-G-A | c.1403C>T | p.Pro468Leu | Missense | 11/28 | - | 1 |
3-38646338-G-T | c.1400C>A | p.Ala467Asp | Missense | 11/28 | - | 1 |
3-38646353-T-G | c.1385A>C | p.Glu462Ala | Missense | 11/28 | - | 4 |
3-38646354-C-T | c.1384G>A | p.Glu462Lys | Missense | 11/28 | - | 4 |
3-38646355-C-A | c.1383G>T | p.Leu461Phe | Missense | 11/28 | - | 1 |
3-38646355-C-G | c.1383G>C | p.Leu461Phe | Missense | 11/28 | - | 1 |
3-38646357-A-C | c.1381T>G | p.Leu461Val | Missense | 11/28 | - | 8 |
3-38646360-A-C | c.1378T>G | p.Ser460Ala | Missense | 11/28 | - | 1 |
3-38646366-G-A | c.1372C>T | p.Arg458Cys | Missense | 11/28 | - | 1 |
3-38646423-C-T | c.1339-24G>A | - | IntronicSNV | - | 10/27 | 1 |
3-38647444-C-T | c.1336G>A | p.Glu446Lys | Missense | 10/28 | - | 5 |
3-38647447-G-A | c.1333C>T | p.His445Tyr | Missense | 10/28 | - | 1 |
3-38647447-G-C | c.1333C>G | p.His445Asp | Missense | 10/28 | - | 5 |
3-38647456-T-G | c.1324A>C | p.Lys442Gln | Missense | 10/28 | - | 1 |
3-38647465-C-T | c.1315G>A | p.Glu439Lys | Missense | 10/28 | - | 2 |
3-38647467-A-G | c.1313T>C | p.Met438Thr | Missense | 10/28 | - | 1 |
3-38647468-T-A | c.1312A>T | p.Met438Leu | Missense | 10/28 | - | 1 |
3-38647478-G-A | c.1302C>T | p.Phe434Phe | Synonymous | 10/28 | - | 1 |
3-38647483-G-A | c.1297C>T | p.Arg433Cys | Missense | 10/28 | - | 2 |
3-38647488-T-C | c.1292A>G | p.Glu431Gly | Missense | 10/28 | - | 1 |
3-38647494-T-G | c.1286A>C | p.Glu429Ala | Missense | 10/28 | - | 1 |
3-38647498-C-T | c.1282G>A | p.Glu428Lys | Missense | 10/28 | - | 6 |
3-38647515-G-T | c.1265C>A | p.Ala422Asp | Missense | 10/28 | - | 1 |
3-38647516-C-T | c.1264G>A | p.Ala422Thr | Missense | 10/28 | - | 1 |
3-38647533-T-C | c.1247A>G | p.Tyr416Cys | Missense | 10/28 | - | 1 |
3-38647542-G-T | c.1238C>A | p.Ala413Glu | Missense | 10/28 | - | 2 |
3-38647543-C-T | c.1237G>A | p.Ala413Thr | Missense | 10/28 | - | 2 |
3-38647547-CC-C | c.1234del | p.Val412Serfs*58 | Frameshift | 10/28 | - | 2 |
3-38647549-C-T | c.1231G>A | p.Val411Met | Missense | 10/28 | - | 15 |
3-38647550-GGC-TGG | c.1228_1230delinsCCA | p.Ala410Pro | Missense | 10/28 | - | 3 |
3-38647553-CAG-TGT | c.1225_1227delinsACA | p.Leu409Thr | Missense | 10/28 | - | 6 |
3-38647554-A-G | c.1226T>C | p.Leu409Pro | Missense | 10/28 | - | 9 |
3-38647554-AG-GC | c.1225_1226delinsGC | p.Leu409Ala | Missense | 10/28 | - | 1 |
3-38647555-G-C | c.1225C>G | p.Leu409Val | Missense | 10/28 | - | 2 |
3-38647559-CAG-TTT | c.1219_1221delinsAAA | p.Leu407Lys | Missense | 10/28 | - | 1 |
3-38647562-G-T | c.1218C>A | p.Asn406Lys | Missense | 10/28 | - | 11 |
3-38647563-T-C | c.1217A>G | p.Asn406Ser | Missense | 10/28 | - | 6 |
3-38647564-T-C | c.1216A>G | p.Asn406Asp | Missense | 10/28 | - | 1 |
3-38647569-A-T | c.1211T>A | p.Leu404Gln | Missense | 10/28 | - | 2 |
3-38647581-C-G | c.1199G>C | p.Gly400Ala | Missense | 10/28 | - | 9 |
3-38647582-C-T | c.1198G>A | p.Gly400Arg | Missense | 10/28 | - | 2 |
3-38647585-G-A | c.1195C>T | p.Leu399Leu | Synonymous | 10/28 | - | 1 |
3-38647590-A-G | c.1190T>C | p.Ile397Thr | Missense | 10/28 | - | 2 |
3-38647591-T-C | c.1189A>G | p.Ile397Val | Missense | 10/28 | - | 2 |
3-38647591-T-A | c.1189A>T | p.Ile397Phe | Missense | 10/28 | - | 1 |
3-38647593-A-G | c.1187T>C | p.Val396Ala | Missense | 10/28 | - | 2 |
3-38647594-C-G | c.1186G>C | p.Val396Leu | Missense | 10/28 | - | 2 |
3-38647613-G-T | c.1167C>A | p.Tyr389* | Nonsense | 10/28 | - | 2 |
3-38647613-G-C | c.1167C>G | p.Tyr389* | Nonsense | 10/28 | - | 2 |
3-38647623-C-T | c.1157G>A | p.Gly386Glu | Missense | 10/28 | - | 3 |
3-38647624-C-T | c.1156G>A | p.Gly386Arg | Missense | 10/28 | - | 4 |
3-38647627-C-T | c.1153G>A | p.Ala385Thr | Missense | 10/28 | - | 1 |
3-38647641-T-C | c.1141-2A>G | - | IntronicSNV | - | 9/27 | 1 |
3-38647642-G-T | c.1141-3C>A | - | IntronicSNV | - | 9/27 | 6 |
3-38648062-C-T | c.1140+98G>A | - | IntronicSNV | - | 9/27 | 4 |
3-38648158-A-G | c.1140+2T>C | - | IntronicSNV | - | 9/27 | 1 |
3-38648167-T-A | c.1133A>T | p.Tyr378Phe | Missense | 9/28 | - | 1 |
3-38648173-C-A | c.1127G>T | p.Arg376Leu | Missense | 9/28 | - | 1 |
3-38648173-C-T | c.1127G>A | p.Arg376His | Missense | 9/28 | - | 10 |
3-38648174-G-A | c.1126C>T | p.Arg376Cys | Missense | 9/28 | - | 3 |
3-38648177-C-A | c.1123G>T | p.Glu375* | Nonsense | 9/28 | - | 2 |
3-38648180-A-G | c.1120T>C | p.Trp374Arg | Missense | 9/28 | - | 1 |
3-38648180-A-C | c.1120T>G | p.Trp374Gly | Missense | 9/28 | - | 2 |
3-38648182-C-A | c.1118G>T | p.Cys373Phe | Missense | 9/28 | - | 4 |
3-38648182-C-T | c.1118G>A | p.Cys373Tyr | Missense | 9/28 | - | 10 |
3-38648183-A-T | c.1117T>A | p.Cys373Ser | Missense | 9/28 | - | 2 |
3-38648182-C-G | c.1118G>C | p.Cys373Ser | Missense | 9/28 | - | 2 |
3-38648185-T-G | c.1115A>C | p.Asp372Ala | Missense | 9/28 | - | 1 |
3-38648189-G-C | c.1111C>G | p.Gln371Glu | Missense | 9/28 | - | 1 |
3-38648189-G-A | c.1111C>T | p.Gln371* | Nonsense | 9/28 | - | 1 |
3-38648191-G-A | c.1109C>T | p.Thr370Met | Missense | 9/28 | - | 1 |
3-38648194-A-T | c.1106T>A | p.Met369Lys | Missense | 9/28 | - | 2 |
3-38648200-C-A | c.1100G>T | p.Arg367Leu | Missense | 9/28 | - | 4 |
3-38648200-C-T | c.1100G>A | p.Arg367His | Missense | 9/28 | - | 23 |
3-38648201-G-A | c.1099C>T | p.Arg367Cys | Missense | 9/28 | - | 6 |
3-38648201-G-C | c.1099C>G | p.Arg367Gly | Missense | 9/28 | - | 1 |
3-38648203-A-G | c.1097T>C | p.Phe366Ser | Missense | 9/28 | - | 1 |
3-38648224-G-C | c.1076C>G | p.Ala359Gly | Missense | 9/28 | - | 1 |
3-38648224-GC-CA | c.1075_1076delinsTG | p.Ala359Cys | Missense | 9/28 | - | 1 |
3-38648230-G-C | c.1070C>G | p.Ser357Cys | Missense | 9/28 | - | 2 |
3-38648234-C-T | c.1066G>A | p.Asp356Asn | Missense | 9/28 | - | 11 |
3-38648242-G-A | c.1058C>T | p.Thr353Ile | Missense | 9/28 | - | 9 |
3-38648245-T-C | c.1055A>G | p.Tyr352Cys | Missense | 9/28 | - | 1 |
3-38648248-C-T | c.1052G>A | p.Gly351Asp | Missense | 9/28 | - | 2 |
3-38648248-C-A | c.1052G>T | p.Gly351Val | Missense | 9/28 | - | 4 |
3-38648252-G-C | c.1048C>G | p.His350Asp | Missense | 9/28 | - | 1 |
3-38648255-C-T | c.1045G>A | p.Asp349Asn | Missense | 9/28 | - | 2 |
3-38648264-C-T | c.1036G>A | p.Glu346Lys | Missense | 9/28 | - | 1 |
3-38648264-C-A | c.1036G>T | p.Glu346* | Nonsense | 9/28 | - | 1 |
3-38648265-GC-AG | c.1034_1035delinsCT | p.Gly345Ala | Missense | 9/28 | - | 1 |
3-38648266-C-A | c.1034G>T | p.Gly345Val | Missense | 9/28 | - | 1 |
3-38648266-C-G | c.1034G>C | p.Gly345Ala | Missense | 9/28 | - | 1 |
3-38648267-C-G | c.1033G>C | p.Gly345Arg | Missense | 9/28 | - | 1 |
3-38648269-G-T | c.1031C>A | p.Ala344Glu | Missense | 9/28 | - | 1 |
3-38648269-G-A | c.1031C>T | p.Ala344Val | Missense | 9/28 | - | 1 |
3-38648274-TAG-TTT | c.1024_1025delinsAA | p.Leu342Lys | Missense | 9/28 | - | 1 |
3-38648278-CA-AC | c.1021_1022delinsGT | p.Cys341Val | Missense | 9/28 | - | 1 |
3-38648281-C-T | c.1019G>A | p.Arg340Gln | Missense | 9/28 | - | 8 |
3-38648282-G-A | c.1018C>T | p.Arg340Trp | Missense | 9/28 | - | 2 |
3-38648282-G-C | c.1018C>G | p.Arg340Gly | Missense | 9/28 | - | 1 |
3-38648293-G-A | c.1007C>T | p.Pro336Leu | Missense | 9/28 | - | 6 |
3-38648297-A-G | c.1003T>C | p.Cys335Arg | Missense | 9/28 | - | 1 |
3-38648821-C-T | c.999-520G>A | - | IntronicSNV | - | 8/27 | 3 |
3-38649044-C-G | c.998+598G>C | - | IntronicSNV | - | 8/27 | 2 |
3-38649044-C-T | c.998+598G>A | - | IntronicSNV | - | 8/27 | 2 |
3-38649643-C-G | c.997G>C | p.Gly333Arg | Missense | 8/28 | - | 1 |
3-38649643-C-T | c.997G>A | p.Gly333Arg | Missense | 8/28 | - | 1 |
3-38649666-A-C | c.974T>G | p.Leu325Arg | Missense | 8/28 | - | 9 |
3-38649678-GA-CT | c.961_962delinsAG | p.Ser321Ser | Missense | 8/28 | - | 1 |
3-38649678-G-T | c.962C>A | p.Ser321Tyr | Missense | 8/28 | - | 1 |
3-38649681-G-T | c.959C>A | p.Thr320Asn | Missense | 8/28 | - | 2 |
3-38649682-T-C | c.958A>G | p.Thr320Ala | Missense | 8/28 | - | 1 |
3-38649685-C-T | c.955G>A | p.Gly319Ser | Missense | 8/28 | - | 4 |
3-38649689-C-A | c.951G>T | p.Lys317Asn | Missense | 8/28 | - | 1 |
3-38649689-C-G | c.951G>C | p.Lys317Asn | Missense | 8/28 | - | 1 |
3-38649696-A-G | c.944T>C | p.Leu315Pro | Missense | 8/28 | - | 2 |
3-38649904-A-C | c.935-199T>G | - | IntronicSNV | - | 7/27 | 1 |
3-38651256-C-T | c.903G>A | p.Trp301* | Nonsense | 7/28 | - | 1 |
3-38651261-C-T | c.898G>A | p.Val300Ile | Missense | 7/28 | - | 2 |
3-38651267-C-T | c.892G>A | p.Gly298Ser | Missense | 7/28 | - | 17 |
3-38651279-C-T | c.880G>A | p.Val294Met | Missense | 7/28 | - | 4 |
3-38651285-C-T | c.874G>A | p.Gly292Ser | Missense | 7/28 | - | 3 |
3-38651287-T-A | c.872A>T | p.Asn291Ile | Missense | 7/28 | - | 1 |
3-38651288-T-G | c.871A>C | p.Asn291His | Missense | 7/28 | - | 1 |
3-38651293-C-T | c.866G>A | p.Gly289Asp | Missense | 7/28 | - | 1 |
3-38651294-C-T | c.865G>A | p.Gly289Ser | Missense | 7/28 | - | 1 |
3-38651314-C-T | c.845G>A | p.Arg282His | Missense | 7/28 | - | 13 |
3-38651315-G-A | c.844C>T | p.Arg282Cys | Missense | 7/28 | - | 1 |
3-38651320-C-T | c.839G>A | p.Cys280Tyr | Missense | 7/28 | - | 1 |
3-38651326-T-C | c.833A>G | p.His278Arg | Missense | 7/28 | - | 1 |
3-38651327-G-C | c.832C>G | p.His278Asp | Missense | 7/28 | - | 2 |
3-38651332-A-T | c.827T>A | p.Leu276Gln | Missense | 7/28 | - | 2 |
3-38651334-G-C | c.825C>G | p.Asn275Lys | Missense | 7/28 | - | 3 |
3-38651334-G-T | c.825C>A | p.Asn275Lys | Missense | 7/28 | - | 3 |
3-38651351-G-C | c.808C>G | p.Gln270Glu | Missense | 7/28 | - | 1 |
3-38651351-G-T | c.808C>A | p.Gln270Lys | Missense | 7/28 | - | 3 |
3-38651356-C-T | c.803G>A | p.Gly268Asp | Missense | 7/28 | - | 2 |
3-38651360-T-G | c.799A>C | p.Ile267Leu | Missense | 7/28 | - | 1 |
3-38651362-A-G | c.797T>C | p.Leu266Pro | Missense | 7/28 | - | 1 |
3-38651386-A-G | c.773T>C | p.Val258Ala | Missense | 7/28 | - | 1 |
3-38651391-GAG-TGG | c.767_768delinsCA | p.Leu256Pro | Missense | 7/28 | - | 1 |
3-38651409-CA-AT | c.749_750delinsAT | p.Leu250His | Missense | 7/28 | - | 1 |
3-38651410-A-G | c.749T>C | p.Leu250Pro | Missense | 7/28 | - | 2 |
3-38651410-AG-TG | c.749delinsA | p.Leu250Gln | Missense | 7/28 | - | 1 |
3-38651420-C-A | c.739G>T | p.Val247Leu | Missense | 7/28 | - | 1 |
3-38651420-C-G | c.739G>C | p.Val247Leu | Missense | 7/28 | - | 1 |
3-38651426-G-T | c.733C>A | p.Gln245Lys | Missense | 7/28 | - | 3 |
3-38651441-C-T | c.718G>A | p.Val240Met | Missense | 7/28 | - | 11 |
3-38651444-T-C | c.715A>G | p.Ile239Val | Missense | 7/28 | - | 3 |
3-38651451-CAG-ATC | c.706_708delinsGAT | p.Leu236Asp | Missense | 7/28 | - | 1 |
3-38651452-A-G | c.707T>C | p.Leu236Pro | Missense | 7/28 | - | 1 |
3-38651452-A-C | c.707T>G | p.Leu236Arg | Missense | 7/28 | - | 2 |
3-38654693-T-C | c.703+541A>G | - | IntronicSNV | - | 6/27 | 1 |
3-38655243-C-T | c.694G>A | p.Val232Ile | Missense | 6/28 | - | 5 |
3-38655248-A-G | c.689T>C | p.Ile230Thr | Missense | 6/28 | - | 2 |
3-38655249-T-C | c.688A>G | p.Ile230Val | Missense | 6/28 | - | 1 |
3-38655257-A-G | c.680T>C | p.Leu227Pro | Missense | 6/28 | - | 1 |
3-38655260-G-T | c.677C>A | p.Ala226Asp | Missense | 6/28 | - | 1 |
3-38655260-G-A | c.677C>T | p.Ala226Val | Missense | 6/28 | - | 8 |
3-38655262-CCG-TGT | c.673_675delinsACA | p.Arg225Thr | Missense | 6/28 | - | 1 |
3-38655263-C-G | c.674G>C | p.Arg225Pro | Missense | 6/28 | - | 16 |
3-38655263-C-T | c.674G>A | p.Arg225Gln | Missense | 6/28 | - | 6 |
3-38655264-G-A | c.673C>T | p.Arg225Trp | Missense | 6/28 | - | 27 |
3-38655270-C-G | c.667G>C | p.Val223Leu | Missense | 6/28 | - | 1 |
3-38655271-TCG-AGC | c.664_666delinsGCT | p.Arg222Ala | Missense | 6/28 | - | 1 |
3-38655271-TCG-TGG | c.665delinsC | p.Arg222Pro | Missense | 6/28 | - | 3 |
3-38655271-TC-AT | c.665_666delinsAT | p.Arg222His | Missense | 6/28 | - | 1 |
3-38655272-C-G | c.665G>C | p.Arg222Pro | Missense | 6/28 | - | 2 |
3-38655272-C-A | c.665G>T | p.Arg222Leu | Missense | 6/28 | - | 1 |
3-38655272-C-T | c.665G>A | p.Arg222Gln | Missense | 6/28 | - | 38 |
3-38655273-G-A | c.664C>T | p.Arg222* | Nonsense | 6/28 | - | 3 |
3-38655273-G-C | c.664C>G | p.Arg222Gly | Missense | 6/28 | - | 1 |
3-38655278-G-A | c.659C>T | p.Thr220Ile | Missense | 6/28 | - | 37 |
3-38655280-GC-AA | c.656_657delinsTT | p.Arg219Leu | Missense | 6/28 | - | 1 |
3-38655281-C-T | c.656G>A | p.Arg219His | Missense | 6/28 | - | 20 |
3-38655281-CG-GC | c.655_656delinsGC | p.Arg219Ala | Missense | 6/28 | - | 1 |
3-38655282-G-A | c.655C>T | p.Arg219Cys | Missense | 6/28 | - | 1 |
3-38655287-G-A | c.650C>T | p.Ala217Val | Missense | 6/28 | - | 1 |
3-38655290-G-A | c.647C>T | p.Ser216Leu | Missense | 6/28 | - | 31 |
3-38655293-AC-TG | c.643_644delinsCA | p.Val215His | Missense | 6/28 | - | 3 |
3-38655299-C-T | c.638G>A | p.Gly213Asp | Missense | 6/28 | - | 3 |
3-38655302-A-T | c.635T>A | p.Leu212Gln | Missense | 6/28 | - | 1 |
3-38655302-A-G | c.635T>C | p.Leu212Pro | Missense | 6/28 | - | 6 |
3-38655306-C-T | c.631G>A | p.Asp211Asn | Missense | 6/28 | - | 1 |
3-38655327-T-C | c.612-2A>G | - | IntronicSNV | - | 5/27 | 1 |
3-38655522-G-A | c.612-197C>T | - | IntronicSNV | - | 5/27 | 1 |
3-38655522-G-T | c.612-197C>A | - | IntronicSNV | - | 5/27 | 1 |
3-38656033-A-G | c.612-708T>C | - | IntronicSNV | - | 5/27 | 5 |
3-38657899-A-T | c.612-2574T>A | - | IntronicSNV | - | 5/27 | 7 |
3-38658508-T-C | c.612-3183A>G | - | IntronicSNV | - | 5/27 | 1 |
3-38659275-G-T | c.611+3059C>A | - | IntronicSNV | - | 5/27 | 1 |
3-38659275-G-A | c.611+3059C>T | - | IntronicSNV | - | 5/27 | 1 |
3-38662333-C-T | c.611+1G>A | - | IntronicSNV | - | 5/27 | 1 |
3-38662334-G-A | c.611C>T | p.Ala204Val | Missense | 5/28 | - | 1 |
3-38662349-CT-GC | c.595_596delinsGC | p.Ser199Ala | Missense | 5/28 | - | 1 |
3-38662376-C-A | c.569G>T | p.Arg190Leu | Missense | 5/28 | - | 1 |
3-38662376-C-T | c.569G>A | p.Arg190Gln | Missense | 5/28 | - | 6 |
3-38662377-G-A | c.568C>T | p.Arg190Trp | Missense | 5/28 | - | 1 |
3-38662377-G-C | c.568C>G | p.Arg190Gly | Missense | 5/28 | - | 2 |
3-38662386-T-A | c.559A>T | p.Thr187Ser | Missense | 5/28 | - | 1 |
3-38662385-G-C | c.560C>G | p.Thr187Ser | Missense | 5/28 | - | 1 |
3-38662385-G-A | c.560C>T | p.Thr187Ile | Missense | 5/28 | - | 10 |
3-38662386-T-C | c.559A>G | p.Thr187Ala | Missense | 5/28 | - | 1 |
3-38662391-G-A | c.554C>T | p.Ala185Val | Missense | 5/28 | - | 1 |
3-38662392-C-T | c.553G>A | p.Ala185Thr | Missense | 5/28 | - | 3 |
3-38662401-A-G | c.544T>C | p.Cys182Arg | Missense | 5/28 | - | 1 |
3-38662409-C-T | c.536G>A | p.Arg179Gln | Missense | 5/28 | - | 2 |
3-38662410-G-A | c.535C>T | p.Arg179* | Nonsense | 5/28 | - | 1 |
3-38662412-G-C | c.533C>G | p.Ala178Gly | Missense | 5/28 | - | 2 |
3-38662413-C-G | c.532G>C | p.Ala178Pro | Missense | 5/28 | - | 1 |
3-38662413-C-T | c.532G>A | p.Ala178Thr | Missense | 5/28 | - | 1 |
3-38662417-A-C | c.528T>G | p.Ile176Met | Missense | 5/28 | - | 1 |
3-38662420-C-G | c.525G>C | p.Lys175Asn | Missense | 5/28 | - | 1 |
3-38662420-C-A | c.525G>T | p.Lys175Asn | Missense | 5/28 | - | 1 |
3-38662436-A-G | c.509T>C | p.Phe170Ser | Missense | 5/28 | - | 1 |
3-38662438-GG-AG | c.507delinsT | p.Thr169Thr | Missense | 5/28 | - | 1 |
3-38662442-T-A | c.503A>T | p.Tyr168Phe | Missense | 5/28 | - | 2 |
3-38662449-C-T | c.496G>A | p.Ala166Thr | Missense | 5/28 | - | 1 |
3-38663892-C-G | c.481G>C | p.Glu161Gln | Missense | 4/28 | - | 2 |
3-38663892-C-T | c.481G>A | p.Glu161Lys | Missense | 4/28 | - | 19 |
3-38663896-A-C | c.477T>G | p.Tyr159* | Nonsense | 4/28 | - | 1 |
3-38663896-A-T | c.477T>A | p.Tyr159* | Nonsense | 4/28 | - | 1 |
3-38663905-C-T | c.468G>A | p.Trp156* | Nonsense | 4/28 | - | 17 |
3-38663906-C-T | c.467G>A | p.Trp156* | Nonsense | 4/28 | - | 17 |
3-38663918-T-A | c.455A>T | p.Asp152Val | Missense | 4/28 | - | 1 |
3-38663927-G-T | c.446C>A | p.Ala149Asp | Missense | 4/28 | - | 1 |
3-38663927-G-A | c.446C>T | p.Ala149Val | Missense | 4/28 | - | 1 |
3-38663937-C-T | c.436G>A | p.Val146Met | Missense | 4/28 | - | 3 |
3-38663952-T-C | c.421A>G | p.Ile141Val | Missense | 4/28 | - | 10 |
3-38663959-C-T | c.414G>A | p.Met138Ile | Missense | 4/28 | - | 3 |
3-38663966-A-G | c.407T>C | p.Leu136Pro | Missense | 4/28 | - | 1 |
3-38663978-AG-TG | c.395delinsA | p.Leu132His | Missense | 4/28 | - | 1 |
3-38663985-G-T | c.393-5C>A | - | IntronicSNV | - | 3/27 | 3 |
3-38665202-G-C | c.393-1222C>G | - | IntronicSNV | - | 3/27 | 1 |
3-38665202-G-T | c.393-1222C>A | - | IntronicSNV | - | 3/27 | 1 |
3-38665823-A-T | c.393-1843T>A | - | IntronicSNV | - | 3/27 | 2 |
3-38665823-A-G | c.393-1843T>C | - | IntronicSNV | - | 3/27 | 2 |
3-38667573-C-G | c.393-3593G>C | - | IntronicSNV | - | 3/27 | 1 |
3-38668256-G-T | c.392+3546C>A | - | IntronicSNV | - | 3/27 | 1 |
3-38668256-G-C | c.392+3546C>G | - | IntronicSNV | - | 3/27 | 1 |
3-38670098-A-G | c.392+1704T>C | - | IntronicSNV | - | 3/27 | 1 |
3-38671560-A-G | c.392+242T>C | - | IntronicSNV | - | 3/27 | 1 |
3-38671818-T-C | c.376A>G | p.Lys126Glu | Missense | 3/28 | - | 3 |
3-38671821-C-G | c.373G>C | p.Val125Leu | Missense | 3/28 | - | 6 |
3-38671823-G-T | c.371C>A | p.Ala124Asp | Missense | 3/28 | - | 2 |
3-38671832-C-T | c.362G>A | p.Arg121Gln | Missense | 3/28 | - | 2 |
3-38671833-G-A | c.361C>T | p.Arg121Trp | Missense | 3/28 | - | 7 |
3-38671851-T-C | c.343A>G | p.Ser115Gly | Missense | 3/28 | - | 1 |
3-38671853-A-G | c.341T>C | p.Leu114Pro | Missense | 3/28 | - | 1 |
3-38671867-G-C | c.327C>G | p.Asn109Lys | Missense | 3/28 | - | 1 |
3-38671867-G-T | c.327C>A | p.Asn109Lys | Missense | 3/28 | - | 1 |
3-38671882-CC-AT | c.311_312delinsAT | p.Arg104His | Missense | 3/28 | - | 1 |
3-38671883-C-T | c.311G>A | p.Arg104Gln | Missense | 3/28 | - | 8 |
3-38671883-CG-AA | c.310_311delinsTT | p.Arg104Leu | Missense | 3/28 | - | 1 |
3-38671884-G-C | c.310C>G | p.Arg104Gly | Missense | 3/28 | - | 1 |
3-38671884-G-A | c.310C>T | p.Arg104Trp | Missense | 3/28 | - | 5 |
3-38671901-TT-GC | c.292_293delinsGC | p.Lys98Ala | Missense | 3/28 | - | 1 |
3-38671904-T-A | c.290A>T | p.Asn97Ile | Missense | 3/28 | - | 2 |
3-38671904-T-C | c.290A>G | p.Asn97Ser | Missense | 3/28 | - | 6 |
3-38671907-A-G | c.287T>C | p.Leu96Pro | Missense | 3/28 | - | 1 |
3-38671911-C-T | c.283G>A | p.Val95Ile | Missense | 3/28 | - | 5 |
3-38671913-A-C | c.281T>G | p.Ile94Ser | Missense | 3/28 | - | 2 |
3-38671914-T-C | c.280A>G | p.Ile94Val | Missense | 3/28 | - | 1 |
3-38671916-A-G | c.278T>C | p.Phe93Ser | Missense | 3/28 | - | 2 |
3-38671944-G-A | c.274-24C>T | - | IntronicSNV | - | 2/27 | 1 |
3-38671945-C-T | c.274-25G>A | - | IntronicSNV | - | 2/27 | 1 |
3-38672585-A-G | c.274-665T>C | - | IntronicSNV | - | 2/27 | 1 |
3-38674535-GCT-TGA | c.262_264delinsTCA | p.Ser88Ser | Nonsense | 2/28 | - | 3 |
3-38674539-T-C | c.260A>G | p.Tyr87Cys | Missense | 2/28 | - | 1 |
3-38674546-G-A | c.253C>T | p.Pro85Ser | Missense | 2/28 | - | 1 |
3-38674549-C-T | c.250G>A | p.Asp84Asn | Missense | 2/28 | - | 1 |
3-38674565-C-G | c.234G>C | p.Glu78Asp | Missense | 2/28 | - | 1 |
3-38674565-C-A | c.234G>T | p.Glu78Asp | Missense | 2/28 | - | 1 |
3-38674574-GAG-AAG | c.225delinsT | p.Leu75Leu | Missense | 2/28 | - | 1 |
3-38674582-G-T | c.217C>A | p.Gln73Lys | Missense | 2/28 | - | 1 |
3-38674582-G-A | c.217C>T | p.Gln73* | Nonsense | 2/28 | - | 1 |
3-38674584-G-A | c.215C>T | p.Pro72Leu | Missense | 2/28 | - | 1 |
3-38674585-G-T | c.214C>A | p.Pro72Thr | Missense | 2/28 | - | 1 |
3-38674589-A-C | c.210T>G | p.Asn70Lys | Missense | 2/28 | - | 3 |
3-38674596-TA-GC | c.202_203delinsGC | p.Tyr68Ala | Missense | 2/28 | - | 1 |
3-38674600-G-A | c.199C>T | p.Leu67Phe | Missense | 2/28 | - | 1 |
3-38674611-TT-GC | c.187_188delinsGC | p.Lys63Ala | Missense | 2/28 | - | 1 |
3-38674629-T-C | c.170A>G | p.Asp57Gly | Missense | 2/28 | - | 1 |
3-38674636-G-A | c.163C>T | p.Gln55* | Nonsense | 2/28 | - | 3 |
3-38674641-C-T | c.158G>A | p.Arg53Gln | Missense | 2/28 | - | 2 |
3-38674642-G-A | c.157C>T | p.Arg53Trp | Missense | 2/28 | - | 1 |
3-38674645-G-A | c.154C>T | p.Pro52Ser | Missense | 2/28 | - | 1 |
3-38674657-C-T | c.142G>A | p.Glu48Lys | Missense | 2/28 | - | 3 |
3-38674662-AG-GA | c.136_137delinsTC | p.Leu46Ser | Missense | 2/28 | - | 1 |
3-38674664-CCC-AGC | c.134_135delinsCT | p.Gly45Ala | Missense | 2/28 | - | 1 |
3-38674668-TC-CT | c.130_131delinsAG | p.Glu44Arg | Missense | 2/28 | - | 1 |
3-38674669-C-G | c.130G>C | p.Glu44Gln | Missense | 2/28 | - | 1 |
3-38674671-C-T | c.128G>A | p.Arg43Gln | Missense | 2/28 | - | 5 |
3-38674672-G-A | c.127C>T | p.Arg43* | Nonsense | 2/28 | - | 1 |
3-38674677-T-G | c.122A>C | p.Glu41Ala | Missense | 2/28 | - | 1 |
3-38674689-G-A | c.110C>T | p.Thr37Ile | Missense | 2/28 | - | 1 |
3-38674696-C-T | c.103G>A | p.Gly35Ser | Missense | 2/28 | - | 3 |
3-38674698-C-T | c.101G>A | p.Arg34His | Missense | 2/28 | - | 2 |
3-38674699-G-A | c.100C>T | p.Arg34Cys | Missense | 2/28 | - | 23 |
3-38674700-G-T | c.99C>A | p.Ala33Ala | Synonymous | 2/28 | - | 1 |
3-38674700-G-C | c.99C>G | p.Ala33Ala | Synonymous | 2/28 | - | 1 |
3-38674700-G-A | c.99C>T | p.Ala33Ala | Synonymous | 2/28 | - | 1 |
3-38674704-T-C | c.95A>G | p.Gln32Arg | Missense | 2/28 | - | 3 |
3-38674710-T-C | c.89A>G | p.Glu30Gly | Missense | 2/28 | - | 3 |
3-38674712-T-A | c.87A>T | p.Ala29Ala | Synonymous | 2/28 | - | 14 |
3-38674712-T-C | c.87A>G | p.Ala29Ala | Synonymous | 2/28 | - | 14 |
3-38674713-G-A | c.86C>T | p.Ala29Val | Missense | 2/28 | - | 1 |
3-38674719-C-T | c.80G>A | p.Arg27His | Missense | 2/28 | - | 9 |
3-38674719-C-G | c.80G>C | p.Arg27Pro | Missense | 2/28 | - | 2 |
3-38674720-G-A | c.79C>T | p.Arg27Cys | Missense | 2/28 | - | 1 |
3-38674726-C-T | c.73G>A | p.Glu25Lys | Missense | 2/28 | - | 1 |
3-38674731-GC-TT | c.67_68delinsAA | p.Ala23Asn | Missense | 2/28 | - | 1 |
3-38674732-C-T | c.67G>A | p.Ala23Thr | Missense | 2/28 | - | 1 |
3-38674741-A-C | c.58T>G | p.Ser20Ala | Missense | 2/28 | - | 1 |
3-38674743-T-C | c.56A>G | p.Glu19Gly | Missense | 2/28 | - | 1 |
3-38674745-CCG-AGC | c.52_54delinsGCT | p.Arg18Ala | Missense | 2/28 | - | 1 |
3-38674746-C-T | c.53G>A | p.Arg18Gln | Missense | 2/28 | - | 2 |
3-38674747-G-A | c.52C>T | p.Arg18Trp | Missense | 2/28 | - | 4 |
3-38674758-C-A | c.41G>T | p.Arg14Leu | Missense | 2/28 | - | 1 |
3-38674758-GCGG-G | c.40_42del | p.Arg15del | InFrameDeletion | 2/28 | - | 1 |
3-38674760-G-A | c.39C>T | p.Phe13Phe | Synonymous | 2/28 | - | 1 |
3-38674764-CT-GA | c.34_35delinsTC | p.Ser12Ser | Missense | 2/28 | - | 1 |
3-38674765-T-C | c.34A>G | p.Ser12Gly | Missense | 2/28 | - | 1 |
3-38674768-T-C | c.31A>G | p.Ser11Gly | Missense | 2/28 | - | 1 |
3-38674768-T-A | c.31A>T | p.Ser11Cys | Missense | 2/28 | - | 1 |
3-38674769-GG-TG | c.30delinsA | p.Thr10Thr | Missense | 2/28 | - | 1 |
3-38674776-C-T | c.23G>A | p.Arg8Gln | Missense | 2/28 | - | 1 |
3-38674795-C-T | c.4G>A | p.Ala2Thr | Missense | 2/28 | - | 1 |
3-38675412-C-T | c.-52-562G>A | - | IntronicSNV | - | 1/27 | 9 |
3-38675412-C-G | c.-52-562G>C | - | IntronicSNV | - | 1/27 | 9 |
3-38676846-G-A | c.-52-1996C>T | - | IntronicSNV | - | 1/27 | 1 |
3-38678501-C-G | c.-52-3651G>C | - | IntronicSNV | - | 1/27 | 3 |
3-38678501-C-A | c.-52-3651G>T | - | IntronicSNV | - | 1/27 | 3 |
3-38681218-C-G | c.-52-6368G>C | - | IntronicSNV | - | 1/27 | 1 |
3-38681394-A-G | c.-52-6544T>C | - | IntronicSNV | - | 1/27 | 4 |
3-38682893-A-G | c.-52-8043T>C | - | IntronicSNV | - | 1/27 | 1 |
3-38683021-G-C | c.-53+8001C>G | - | intron_variant | - | 1/27 | 1 |
3-38684466-C-A | c.-53+6556G>T | - | intron_variant | - | 1/27 | 2 |
3-38687226-T-C | c.-53+3796A>G | - | intron_variant | - | 1/27 | 1 |