SCN5A sodium voltage-gated channel alpha subunit 5

Canonical transcript: NM_198056

1270 unique variant annotations were identified in 942 publications
Gene-Specific Resource Links:
OMIM
Entrez
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HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
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