BRAF B-Raf proto-oncogene, serine/threonine kinase

Canonical transcript: NM_004333

856 unique variant annotations were identified in 1555 publications
Gene-Specific Resource Links:
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COSMIC
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GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
7-140432893-T-C c.*1504A>G - IntergenicSNV 18/18 - 1
7-140434010-C-T c.*387G>A - 3-UTRSNV 18/18 - 1
7-140434181-A-G c.*216T>C - 3-UTRSNV 18/18 - 1
7-140434182-T-A c.*215A>T - 3-UTRSNV 18/18 - 1
7-140434340-T-A c.*57A>T - 3-UTRSNV 18/18 - 1
7-140434371-C-A c.*26G>T - 3-UTRSNV 18/18 - 1
7-140434371-C-T c.*26G>A - 3-UTRSNV 18/18 - 1
7-140434413-G-T c.2285C>A p.Ala762Glu Missense 18/18 - 1
7-140434434-A-G c.2264T>C p.Ile755Thr Missense 18/18 - 1
7-140434447-G-C c.2251C>G p.Pro751Ala Missense 18/18 - 1
7-140434448-GA-G c.2250del p.Pro751Glnfs*21 Frameshift 18/18 - 1
7-140434452-G-T c.2246C>A p.Ala749Asp Missense 18/18 - 1
7-140434453-C-T c.2245G>A p.Ala749Thr Missense 18/18 - 1
7-140434458-G-A c.2240C>T p.Ala747Val Missense 18/18 - 1
7-140434480-T-C c.2218A>G p.Thr740Ala Missense 18/18 - 1
7-140434492-C-T c.2206G>A p.Ala736Thr Missense 18/18 - 1
7-140434499-C-A c.2199G>T p.Leu733Phe Missense 18/18 - 1
7-140434499-C-G c.2199G>C p.Leu733Phe Missense 18/18 - 1
7-140434507-G-A c.2191C>T p.Pro731Ser Missense 18/18 - 3
7-140434512-G-A c.2186C>T p.Ser729Leu Missense 18/18 - 1
7-140434513-A-C c.2185T>G p.Ser729Ala Missense 18/18 - 8
7-140434515-G-A c.2183C>T p.Ala728Val Missense 18/18 - 2
7-140434519-T-C c.2179A>G p.Ser727Gly Missense 18/18 - 1
7-140434521-C-A c.2177G>T p.Arg726Leu Missense 18/18 - 1
7-140434521-C-T c.2177G>A p.Arg726His Missense 18/18 - 1
7-140434525-G-A c.2173C>T p.His725Tyr Missense 18/18 - 1
7-140434530-TT-GG c.2167_2168delinsCC p.Lys723Pro Missense 18/18 - 7
7-140434534-G-A c.2164C>T p.Pro722Ser Missense 18/18 - 7
7-140434542-C-A c.2156G>T p.Arg719Leu Missense 18/18 - 1
7-140434542-C-G c.2156G>C p.Arg719Pro Missense 18/18 - 1
7-140434543-G-A c.2155C>T p.Arg719Cys Missense 18/18 - 1
7-140434551-AG-GA c.2146_2147delinsTC p.Leu716Ser Missense 18/18 - 7
7-140434558-T-C c.2140A>G p.Ile714Val Missense 18/18 - 1
7-140434559-AGA-GAG c.2137_2139delinsCTC p.Ser713Leu Missense 18/18 - 7
7-140434564-C-T c.2134G>A p.Ala712Thr Missense 18/18 - 1
7-140434573-A-AA c.2128-3dup - IntronicInsertion - 17/17 1
7-140434573-A-C c.2128-3T>G - IntronicSNV - 17/17 1
7-140439613-T-C c.2126A>G p.Gln709Arg Missense 17/18 - 10
7-140439627-T-C c.2112A>G p.Arg704Arg Synonymous 17/18 - 1
7-140439630-C-A c.2109G>T p.Glu703Asp Missense 17/18 - 1
7-140439630-C-G c.2109G>C p.Glu703Asp Missense 17/18 - 1
7-140439633-A-G c.2106T>C p.Asp702Asp Synonymous 17/18 - 1
7-140439640-T-C c.2099A>G p.Lys700Arg Missense 17/18 - 1
7-140439643-T-C c.2096A>G p.Lys699Arg Missense 17/18 - 1
7-140439646-T-C c.2093A>G p.Lys698Arg Missense 17/18 - 1
7-140439656-C-T c.2083G>A p.Glu695Lys Missense 17/18 - 2
7-140439662-T-C c.2077A>G p.Met693Val Missense 17/18 - 1
7-140439664-A-G c.2075T>C p.Leu692Ser Missense 17/18 - 1
7-140439670-CTTC-C c.2069_2071del p.Lys690del InFrameDeletion 17/18 - 1
7-140439676-GC-CG c.2062_2063delinsCG p.Ala688Arg Missense 17/18 - 7
7-140439682-G-T c.2057C>A p.Pro686Gln Missense 17/18 - 1
7-140439683-G-T c.2056C>A p.Pro686Thr Missense 17/18 - 1
7-140439686-A-T c.2053T>A p.Cys685Ser Missense 17/18 - 1
7-140439685-C-G c.2054G>C p.Cys685Ser Missense 17/18 - 1
7-140439714-AGA-GAG c.2023_2025delinsCTC p.Ser675Leu Missense 17/18 - 1
7-140439715-G-GTAT c.2023_2024insATA p.Ser675delinsTyrThr MultiAAMissense 17/18 - 1
7-140439716-A-C c.2023T>G p.Ser675Ala Missense 17/18 - 2
7-140439721-T-G c.2018A>C p.Tyr673Ser Missense 17/18 - 7
7-140439727-CG-AA c.2011_2012delinsTT p.Arg671Leu Missense 17/18 - 1
7-140439727-C-T c.2012G>A p.Arg671Gln Missense 17/18 - 6
7-140439728-G-A c.2011C>T p.Arg671* Nonsense 17/18 - 2
7-140439738-AAA-GAG c.1999_2001delinsCTC p.Phe667Leu Missense 17/18 - 7
7-140439739-AA-GC c.1999_2000delinsGC p.Phe667Ala Missense 17/18 - 1
7-140439741-AA-GG c.1997_1998delinsCC p.Ile666Thr Missense 17/18 - 1
7-140449071-C-T c.1992+16G>A - IntronicSNV - 16/17 2
7-140449071-C-G c.1992+16G>C - IntronicSNV - 16/17 2
7-140449092-C-A c.1987G>T p.Asp663Tyr Missense 16/18 - 1
7-140449099-G-T c.1980C>A p.Asn660Lys Missense 16/18 - 1
7-140449099-G-C c.1980C>G p.Asn660Lys Missense 16/18 - 1
7-140449150-T-C c.1929A>G p.Gly643Gly Synonymous 16/18 - 4
7-140449164-C-T c.1915G>A p.Val639Ile Missense 16/18 - 2
7-140449165-A-C c.1914T>G p.Asp638Glu Missense 16/18 - 10
7-140449165-A-T c.1914T>A p.Asp638Glu Missense 16/18 - 8
7-140449169-GA-AG c.1909_1910delinsCT p.Ser637Leu Missense 16/18 - 1
7-140449170-A-C c.1909T>G p.Ser637Ala Missense 16/18 - 1
7-140449173-G-A c.1906C>T p.Gln636* Nonsense 16/18 - 1
7-140449176-A-T c.1903T>A p.Phe635Ile Missense 16/18 - 1
7-140449182-A-G c.1897T>C p.Tyr633His Missense 16/18 - 1
7-140449185-G-A c.1894C>T p.Pro632Ser Missense 16/18 - 3
7-140449189-TT-GC c.1889_1890delinsGC p.Lys630Ser Missense 16/18 - 7
7-140449197-TG-T c.1882del p.Gln628Lysfs*22 Frameshift 16/18 - 1
7-140449209-C-A c.1870G>T p.Val624Phe Missense 16/18 - 2
7-140453076-A-T c.1859T>A p.Met620Lys Missense 15/18 - 1
7-140453078-C-G c.1857G>C p.Trp619Cys Missense 15/18 - 1
7-140453078-C-A c.1857G>T p.Trp619Cys Missense 15/18 - 1
7-140453081-C-A c.1854G>T p.Leu618Phe Missense 15/18 - 1
7-140453084-AA-GG c.1850_1851delinsCC p.Ile617Thr Missense 15/18 - 2
7-140453086-T-A c.1849A>T p.Ile617Phe Missense 15/18 - 2
7-140453087-GGA-GAG c.1846_1847delinsCT p.Ser616Leu Missense 15/18 - 1
7-140453087-G-C c.1848C>G p.Ser616Ser Synonymous 15/18 - 1
7-140453087-G-A c.1848C>T p.Ser616Ser Synonymous 15/18 - 1
7-140453087-G-T c.1848C>A p.Ser616Ser Synonymous 15/18 - 1
7-140453088-G-A c.1847C>T p.Ser616Phe Missense 15/18 - 6
7-140453089-A-C c.1846T>G p.Ser616Ala Missense 15/18 - 1
7-140453092-C-T c.1843G>A p.Gly615Arg Missense 15/18 - 2
7-140453093-A-G c.1842T>C p.Ser614Ser Synonymous 15/18 - 1
7-140453093-A-C c.1842T>G p.Ser614Ser Synonymous 15/18 - 1
7-140453093-A-T c.1842T>A p.Ser614Ser Synonymous 15/18 - 1
7-140453094-GA-CG c.1840_1841delinsCG p.Ser614Arg Missense 15/18 - 1
7-140453095-A-G c.1840T>C p.Ser614Pro Missense 15/18 - 1
7-140453096-C-G c.1839G>C p.Leu613Phe Missense 15/18 - 1
7-140453096-C-A c.1839G>T p.Leu613Phe Missense 15/18 - 1
7-140453098-A-C c.1837T>G p.Leu613Val Missense 15/18 - 4
7-140453101-G-C c.1834C>G p.Gln612Glu Missense 15/18 - 1
7-140453104-C-T c.1831G>A p.Glu611Lys Missense 15/18 - 1
7-140453104-C-G c.1831G>C p.Glu611Gln Missense 15/18 - 1
7-140453109-TG-AA c.1825_1826delinsTT p.Gln609Leu Missense 15/18 - 1
7-140453110-G-A c.1825C>T p.Gln609* Nonsense 15/18 - 1
7-140453112-T-A c.1823A>T p.His608Leu Missense 15/18 - 1
7-140453113-G-A c.1822C>T p.His608Tyr Missense 15/18 - 2
7-140453115-GG-G c.1822del p.His608Ilefs*42 Frameshift 15/18 - 1
7-140453115-G-A c.1820C>T p.Ser607Phe Missense 15/18 - 5
7-140453116-A-G c.1819T>C p.Ser607Pro Missense 15/18 - 3
7-140453118-C-T c.1817G>A p.Gly606Glu Missense 15/18 - 3
7-140453119-C-T c.1816G>A p.Gly606Arg Missense 15/18 - 6
7-140453120-A-G c.1815T>C p.Ser605Ser Synonymous 15/18 - 1
7-140453120-ACT-CTTCTC c.1813_1815delinsGAGAAG p.Ser605delinsGluLys MultiAAMissense 15/18 - 1
7-140453121-C-A c.1814G>T p.Ser605Ile Missense 15/18 - 2
7-140453121-C-T c.1814G>A p.Ser605Asn Missense 15/18 - 4
7-140453121-CT-TT c.1814delinsA p.Ser605Asn Missense 15/18 - 1
7-140453122-T-C c.1813A>G p.Ser605Gly Missense 15/18 - 1
7-140453123-TCCA-T c.1810_1812del p.Trp604del InFrameDeletion 15/18 - 1
7-140453123-C-G c.1812G>C p.Trp604Cys Missense 15/18 - 1
7-140453123-TCCATCGAGATTTCAC-T c.1798_1812del p.Val600_Trp604del InFrameDeletion 15/18 - 1
7-140453123-C-A c.1812G>T p.Trp604Cys Missense 15/18 - 1
7-140453124-C-A c.1811G>T p.Trp604Leu Missense 15/18 - 2
7-140453124-C-T c.1811G>A p.Trp604* Nonsense 15/18 - 2
7-140453124-CCATCGAGATTTC-C c.1802_1813del p.Lys601_Trp604del InFrameDeletion 15/18 - 1
7-140453125-A-C c.1810T>G p.Trp604Gly Missense 15/18 - 1
7-140453125-ATCGAGATTTCA-CATCAGTTTGGT c.1799_1810delinsACCAAACTGATG p.Val600_Trp604delinsAspGlnThrAspGly MultiAAMissense 15/18 - 1
7-140453127-TCGAGATTTCACT-T c.1798_1809del p.Val600_Arg603del InFrameDeletion 15/18 - 1
7-140453127-C-A c.1808G>T p.Arg603Leu Missense 15/18 - 2
7-140453127-C-T c.1808G>A p.Arg603Gln Missense 15/18 - 8
7-140453128-G-A c.1807C>T p.Arg603* Nonsense 15/18 - 10
7-140453129-A-T c.1806T>A p.Ser602Ser Synonymous 15/18 - 1
7-140453129-A-G c.1806T>C p.Ser602Ser Synonymous 15/18 - 1
7-140453129-A-C c.1806T>G p.Ser602Ser Synonymous 15/18 - 1
7-140453130-G-A c.1805C>T p.Ser602Phe Missense 15/18 - 4
7-140453130-G-T c.1805C>A p.Ser602Tyr Missense 15/18 - 2
7-140453131-A-G c.1804T>C p.Ser602Pro Missense 15/18 - 1
7-140453131-A-C c.1804T>G p.Ser602Ala Missense 15/18 - 2
7-140453131-A-T c.1804T>A p.Ser602Thr Missense 15/18 - 1
7-140453132-ATTT-A c.1801_1803del p.Lys601del InFrameDeletion 15/18 - 10
7-140453132-TTT-GATCTC c.1801_1803delinsGAGATC p.Lys601delinsGluIle MultiAAMissense 15/18 - 1
7-140453132-T-G c.1803A>C p.Lys601Asn Missense 15/18 - 51
7-140453132-T-A c.1803A>T p.Lys601Asn Missense 15/18 - 55
7-140453132-T-C c.1803A>G p.Lys601Lys Synonymous 15/18 - 7
7-140453133-TTCA-ATTT c.1799_1802delinsAAAT p.Val600_Lys601delinsGluIle MultiAAMissense 15/18 - 1
7-140453133-TTTCACT-T c.1798_1803del p.Val600_Lys601del InFrameDeletion 15/18 - 1
7-140453133-T-G c.1802A>C p.Lys601Thr Missense 15/18 - 5
7-140453133-T-A c.1802A>T p.Lys601Ile Missense 15/18 - 9
7-140453133-T-C c.1802A>G p.Lys601Arg Missense 15/18 - 5
7-140453134-T-C c.1801A>G p.Lys601Glu Missense 15/18 - 323
7-140453134-T-G c.1801A>C p.Lys601Gln Missense 15/18 - 11
7-140453134-TTCA-T c.1799_1801del p.Val600_Lys601delinsGlu MultiAAMissense 15/18 - 17
7-140453134-TCA-CCT c.1799_1801delinsAGG p.Val600_Lys601delinsGluGlu MultiAAMissense 15/18 - 1
7-140453135-C-A c.1800G>T p.Val600Val Synonymous 15/18 - 13
7-140453135-C-T c.1800G>A p.Val600Val Synonymous 15/18 - 15
7-140453135-CA-TT c.1799_1800delinsAA p.Val600Glu Missense 15/18 - 18
7-140453135-CA-AT c.1799_1800delinsAT p.Val600Asp Missense 15/18 - 8
7-140453135-CAC-AAGTGC c.1799_1800delinsCACTT p.Val600delinsAlaLeu MultiAAMissense 15/18 - 2
7-140453135-CA-GT c.1799_1800delinsAC p.Val600Asp Missense 15/18 - 4
7-140453135-CAC-CTCCCT c.1798_1799delinsAGGGA p.Val600delinsArgGlu MultiAAMissense 15/18 - 1
7-140453135-C-G c.1800G>C p.Val600Val Synonymous 15/18 - 13
7-140453135-CACTGT-CTCCCT c.1796_1799delinsGGGA p.Thr599_Val600delinsArgGlu MultiAAMissense 15/18 - 1
7-140453136-ACT-CTC c.1797_1799delinsGAG p.Val600Arg Missense 15/18 - 1
7-140453136-A-C c.1799T>G p.Val600Gly Missense 15/18 - 59
7-140453136-A-G c.1799T>C p.Val600Ala Missense 15/18 - 33
7-140453136-A-T c.1799T>A p.Val600Glu Missense 15/18 - 10528
7-140453136-ACTG-TCTA c.1796_1799delinsTAGA p.Thr599_Val600delinsIleGlu MultiAAMissense 15/18 - 1
7-140453136-AC-CA c.1798_1799delinsTG p.Val600Trp Missense 15/18 - 8
7-140453136-AC-CG c.1798_1799delinsCG p.Val600Arg Missense 15/18 - 1
7-140453136-AC-CT c.1798_1799delinsAG p.Val600Arg Missense 15/18 - 12
7-140453136-CAC-C c.1799_1800del p.Val600Glufs*11 Frameshift 15/18 - 1
7-140453136-CA-C c.1799del p.Val600Glyfs*50 Frameshift 15/18 - 1
7-140453136-AC-TG c.1798_1799delinsCA p.Val600Gln Missense 15/18 - 1
7-140453136-AC-TA c.1798_1799delinsTA p.Val600* Nonsense 15/18 - 7
7-140453136-AC-TT c.1798_1799delinsAA p.Val600Lys Missense 15/18 - 26
7-140453137-C-G c.1798G>C p.Val600Leu Missense 15/18 - 18
7-140453137-C-A c.1798G>T p.Val600Leu Missense 15/18 - 18
7-140453137-C-T c.1798G>A p.Val600Met Missense 15/18 - 97
7-140453138-T-G c.1797A>C p.Thr599Thr Synonymous 15/18 - 3
7-140453138-T-C c.1797A>G p.Thr599Thr Synonymous 15/18 - 3
7-140453138-TGT-AGGGAT c.1796_1797delinsTCCCT p.Thr599delinsIlePro MultiAAMissense 15/18 - 2
7-140453138-T-A c.1797A>T p.Thr599Thr Synonymous 15/18 - 3
7-140453138-CTGT-C c.1795_1797del p.Thr599del InFrameDeletion 15/18 - 4
7-140453139-GT-GA c.1795delinsT p.Thr599Ser Missense 15/18 - 5
7-140453139-G-A c.1796C>T p.Thr599Ile Missense 15/18 - 41
7-140453139-G-C c.1796C>G p.Thr599Arg Missense 15/18 - 14
7-140453139-G-T c.1796C>A p.Thr599Lys Missense 15/18 - 2
7-140453140-T-C c.1795A>G p.Thr599Ala Missense 15/18 - 9
7-140453140-T-A c.1795A>T p.Thr599Ser Missense 15/18 - 1
7-140453140-T-TTGCAAGACCAAAGTCTGT c.1798_1799insACTTTGGTCTTGCAACAG p.Asp594_Thr599dup InFrameInsertion 15/18 - 1
7-140453140-T-TTGTTGT c.1797_1798insACAACA p.Thr599_Val600insThrThr InFrameInsertion 15/18 - 2
7-140453140-T-TTGCAAGACCAAAGTTACCCTTCTT c.1795_1796insAGAAGGGTAACTTTGGTCTTGCAA p.Ala598_Thr599insLysLysGlyAsnPheGlyLeuAla InFrameInsertion 15/18 - 1
7-140453141-A-T c.1794T>A p.Ala598Ala Synonymous 15/18 - 3
7-140453141-A-G c.1794T>C p.Ala598Ala Synonymous 15/18 - 3
7-140453141-A-AACA c.1794_1795insGTT p.Ala598_Thr599insVal InFrameInsertion 15/18 - 4
7-140453141-TAGC-T c.1792_1794del p.Ala598del InFrameDeletion 15/18 - 1
7-140453141-A-ATAG c.1793_1794insCTA p.Ala598_Thr599insTyr InFrameInsertion 15/18 - 1
7-140453141-A-C c.1794T>G p.Ala598Ala Synonymous 15/18 - 3
7-140453141-A-ACCTGCAAGAAAGTCTGTA c.1798_1799insACTTTCTTGCAGGTACAG p.Thr599_Val600insAspPheLeuAlaGlyThr InFrameInsertion 15/18 - 1
7-140453142-G-T c.1793C>A p.Ala598Asp Missense 15/18 - 1
7-140453142-G-A c.1793C>T p.Ala598Val Missense 15/18 - 8
7-140453142-G-GTCTCTGTAG c.1798_1799insAGACTACAG p.Thr599_Val600insGluThrThr InFrameInsertion 15/18 - 1
7-140453143-C-T c.1792G>A p.Ala598Thr Missense 15/18 - 6
7-140453144-TAG-TAT c.1789delinsA p.Leu597Ile Missense 15/18 - 1
7-140453144-TA-AT c.1790_1791delinsAT p.Leu597His Missense 15/18 - 1
7-140453144-T-C c.1791A>G p.Leu597Leu Synonymous 15/18 - 1
7-140453145-AG-TC c.1789_1790delinsGA p.Leu597Glu Missense 15/18 - 50
7-140453145-AG-GC c.1789_1790delinsGC p.Leu597Ala Missense 15/18 - 1
7-140453145-AG-GA c.1789_1790delinsTC p.Leu597Ser Missense 15/18 - 2
7-140453145-A-T c.1790T>A p.Leu597Gln Missense 15/18 - 54
7-140453145-A-G c.1790T>C p.Leu597Pro Missense 15/18 - 5
7-140453145-A-C c.1790T>G p.Leu597Arg Missense 15/18 - 75
7-140453146-G-C c.1789C>G p.Leu597Val Missense 15/18 - 58
7-140453147-A-T c.1788T>A p.Gly596Gly Synonymous 15/18 - 2
7-140453147-A-G c.1788T>C p.Gly596Gly Synonymous 15/18 - 2
7-140453147-A-C c.1788T>G p.Gly596Gly Synonymous 15/18 - 2
7-140453148-C-A c.1787G>T p.Gly596Val Missense 15/18 - 22
7-140453148-C-T c.1787G>A p.Gly596Asp Missense 15/18 - 17
7-140453148-CC-AA c.1786_1787delinsTT p.Gly596Phe Missense 15/18 - 2
7-140453149-C-A c.1786G>T p.Gly596Cys Missense 15/18 - 4
7-140453149-C-T c.1786G>A p.Gly596Ser Missense 15/18 - 2
7-140453149-C-G c.1786G>C p.Gly596Arg Missense 15/18 - 51
7-140453151-AA-GG c.1783_1784delinsCC p.Phe595Pro Missense 15/18 - 1
7-140453151-A-C c.1784T>G p.Phe595Cys Missense 15/18 - 1
7-140453151-A-G c.1784T>C p.Phe595Ser Missense 15/18 - 3
7-140453151-AA-CG c.1783_1784delinsCG p.Phe595Arg Missense 15/18 - 1
7-140453150-A-C c.1785T>G p.Phe595Leu Missense 15/18 - 43
7-140453150-A-T c.1785T>A p.Phe595Leu Missense 15/18 - 41
7-140453153-A-C c.1782T>G p.Asp594Glu Missense 15/18 - 17
7-140453153-A-T c.1782T>A p.Asp594Glu Missense 15/18 - 18
7-140453153-A-G c.1782T>C p.Asp594Asp Synonymous 15/18 - 1
7-140453153-ATC-TAA c.1780_1782delinsTTA p.Asp594Leu Nonsense 15/18 - 2
7-140453154-TC-AC c.1781delinsT p.Asp594Val Missense 15/18 - 1
7-140453154-TC-AG c.1780_1781delinsCT p.Asp594Leu Missense 15/18 - 1
7-140453154-T-G c.1781A>C p.Asp594Ala Missense 15/18 - 39
7-140453154-T-A c.1781A>T p.Asp594Val Missense 15/18 - 37
7-140453154-T-C c.1781A>G p.Asp594Gly Missense 15/18 - 175
7-140453155-C-A c.1780G>T p.Asp594Tyr Missense 15/18 - 1
7-140453155-C-G c.1780G>C p.Asp594His Missense 15/18 - 9
7-140453155-C-T c.1780G>A p.Asp594Asn Missense 15/18 - 94
7-140453156-A-T c.1779T>A p.Gly593Gly Synonymous 15/18 - 1
7-140453156-ACC-ATG c.1777_1778delinsCA p.Gly593His Missense 15/18 - 1
7-140453157-CC-TT c.1777_1778delinsAA p.Gly593Asn Missense 15/18 - 1
7-140453157-C-T c.1778G>A p.Gly593Asp Missense 15/18 - 4
7-140453158-C-A c.1777G>T p.Gly593Cys Missense 15/18 - 1
7-140453158-C-T c.1777G>A p.Gly593Ser Missense 15/18 - 3
7-140453159-T-A c.1776A>T p.Ile592Ile Synonymous 15/18 - 1
7-140453159-T-C c.1776A>G p.Ile592Met Missense 15/18 - 4
7-140453159-T-G c.1776A>C p.Ile592Ile Synonymous 15/18 - 1
7-140453160-A-G c.1775T>C p.Ile592Thr Missense 15/18 - 1
7-140453161-T-C c.1774A>G p.Ile592Val Missense 15/18 - 4
7-140453165-TT-T c.1774del p.Ile592* Frameshift 15/18 - 1
7-140453166-A-G c.1769T>C p.Val590Ala Missense 15/18 - 2
7-140453166-A-C c.1769T>G p.Val590Gly Missense 15/18 - 1
7-140453166-TA-T c.1769del p.Val590Glufs*3 Frameshift 15/18 - 1
7-140453167-C-T c.1768G>A p.Val590Ile Missense 15/18 - 2
7-140453169-G-A c.1766C>T p.Thr589Ile Missense 15/18 - 1
7-140453169-G-T c.1766C>A p.Thr589Lys Missense 15/18 - 1
7-140453170-T-C c.1765A>G p.Thr589Ala Missense 15/18 - 1
7-140453170-T-G c.1765A>C p.Thr589Pro Missense 15/18 - 1
7-140453173-G-A c.1762C>T p.Leu588Phe Missense 15/18 - 2
7-140453174-G-T c.1761C>A p.Asp587Glu Missense 15/18 - 3
7-140453175-T-G c.1760A>C p.Asp587Ala Missense 15/18 - 1
7-140453176-C-G c.1759G>C p.Asp587His Missense 15/18 - 1
7-140453176-C-T c.1759G>A p.Asp587Asn Missense 15/18 - 1
7-140453179-C-T c.1756G>A p.Glu586Lys Missense 15/18 - 31
7-140453181-T-C c.1754A>G p.His585Arg Missense 15/18 - 1
7-140453182-G-A c.1753C>T p.His585Tyr Missense 15/18 - 2
7-140453184-A-G c.1751T>C p.Leu584Pro Missense 15/18 - 1
7-140453185-G-A c.1750C>T p.Leu584Phe Missense 15/18 - 11
7-140453189-ATATATCTGAGGTGTAGTAAGTAAAGGAAAACAGTAGATCTCATTTTCCTATCAGAGCAA-A c.1742-52_1748del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 15/18 14/17 1
7-140453192-A-T c.1743T>A p.Asn581Lys Missense 15/18 - 2
7-140453192-A-C c.1743T>G p.Asn581Lys Missense 15/18 - 2
7-140453193-T-G c.1742A>C p.Asn581Thr Missense 15/18 - 6
7-140453193-T-C c.1742A>G p.Asn581Ser Missense 15/18 - 53
7-140453193-T-A c.1742A>T p.Asn581Ile Missense 15/18 - 20
7-140453222-T-G c.1742-29A>C - IntronicSNV - 14/17 1
7-140453222-T-C c.1742-29A>G - IntronicSNV - 14/17 1
7-140453987-T-A c.1741A>T p.Asn581Tyr Missense 14/18 - 3
7-140453987-T-C c.1741A>G p.Asn581Asp Missense 14/18 - 9
7-140453987-T-G c.1741A>C p.Asn581His Missense 14/18 - 4
7-140453989-T-C c.1739A>G p.Asn580Ser Missense 14/18 - 4
7-140453990-T-C c.1738A>G p.Asn580Asp Missense 14/18 - 2
7-140453992-CT-GA c.1735_1736delinsTC p.Ser579Ser Missense 14/18 - 1
7-140453992-CT-GC c.1735_1736delinsGC p.Ser579Ala Missense 14/18 - 1
7-140453995-T-C c.1733A>G p.Lys578Arg Missense 14/18 - 2
7-140453999-G-A c.1729C>T p.Leu577Phe Missense 14/18 - 1
7-140454003-CTCTGTGGATGATTGACTTGGCGTGTAAGTA-C c.1696_1725del p.Tyr566_Arg575del SpliceAcceptorDeletion 14/18 - 1
7-140454004-CT-GC c.1723_1724delinsGC p.Arg575Ala Missense 14/18 - 1
7-140454006-G-T c.1722C>A p.His574Gln Missense 14/18 - 4
7-140454006-G-C c.1722C>G p.His574Gln Missense 14/18 - 4
7-140454007-T-A c.1721A>T p.His574Leu Missense 14/18 - 1
7-140454008-G-T c.1720C>A p.His574Asn Missense 14/18 - 1
7-140454019-T-C c.1709A>G p.Lys570Arg Missense 14/18 - 1
7-140454028-AA-CC c.1699_1700delinsGG p.Leu567Gly Missense 14/18 - 3
7-140454029-A-C c.1699T>G p.Leu567Val Missense 14/18 - 1
7-140454973-G-C c.1695-940C>G - IntronicSNV - 13/17 1
7-140454973-G-A c.1695-940C>T - IntronicSNV - 13/17 1
7-140454973-G-T c.1695-940C>A - IntronicSNV - 13/17 1
7-140476712-T-C c.1694A>G p.Asp565Gly Missense 13/18 - 1
7-140476712-T-TT c.1694dup p.Asp565Glufs*16 SpliceDonorInsertion 13/18 - 1
7-140476721-T-C c.1685A>G p.Gln562Arg Missense 13/18 - 7
7-140476732-TC-AT c.1673_1674delinsAT p.Arg558His Missense 13/18 - 1
7-140476732-GTCGTGCAATATCTAT-G c.1660_1674del p.Ile554_Arg558del InFrameDeletion 13/18 - 1
7-140476733-C-T c.1673G>A p.Arg558Gln Missense 13/18 - 1
7-140476736-TGCAATATCTATAAGTTTG-T c.1653_1670del p.Lys552_Ala557del InFrameDeletion 13/18 - 1
7-140476744-TAT-GCTATAAAG c.1660_1662delinsCTTTATAGC p.Ile554delinsLeuTyrSer MultiAAMissense 13/18 - 1
7-140476751-T-A c.1655A>T p.Lys552Ile Missense 13/18 - 1
7-140476753-GA-AG c.1652_1653delinsCT p.Ile551Thr Missense 13/18 - 7
7-140476755-T-C c.1651A>G p.Ile551Val Missense 13/18 - 1
7-140476759-C-G c.1647G>C p.Glu549Asp Missense 13/18 - 1
7-140476759-C-A c.1647G>T p.Glu549Asp Missense 13/18 - 1
7-140476761-C-T c.1645G>A p.Glu549Lys Missense 13/18 - 1
7-140476772-T-C c.1634A>G p.Glu545Gly Missense 13/18 - 5
7-140476772-T-G c.1634A>C p.Glu545Ala Missense 13/18 - 1
7-140476773-C-A c.1633G>T p.Glu545* Nonsense 13/18 - 1
7-140476773-C-T c.1633G>A p.Glu545Lys Missense 13/18 - 24
7-140476773-C-G c.1633G>C p.Glu545Gln Missense 13/18 - 2
7-140476775-A-C c.1631T>G p.Ile544Ser Missense 13/18 - 7
7-140476778-AT-GC c.1627_1628delinsGC p.Ile543Ala Missense 13/18 - 7
7-140476783-GAG-ATG c.1622_1623delinsAT p.Leu541His Missense 13/18 - 1
7-140476804-G-A c.1602C>T p.Gly534Gly Synonymous 13/18 - 1
7-140476806-C-G c.1600G>C p.Gly534Arg Missense 13/18 - 4
7-140476809-C-T c.1597G>A p.Glu533Lys Missense 13/18 - 1
7-140476811-C-T c.1595G>A p.Cys532Tyr Missense 13/18 - 1
7-140476811-CA-GC c.1594_1595delinsGC p.Cys532Ala Missense 13/18 - 1
7-140476813-C-G c.1593G>C p.Trp531Cys Missense 13/18 - 5
7-140476814-C-A c.1592G>T p.Trp531Leu Missense 13/18 - 1
7-140476819-GG-TG c.1587delinsA p.Thr529Thr Missense 13/18 - 4
7-140476820-G-A c.1586C>T p.Thr529Ile Missense 13/18 - 1
7-140476820-G-T c.1586C>A p.Thr529Asn Missense 13/18 - 10
7-140476824-C-A c.1582G>T p.Val528Phe Missense 13/18 - 1
7-140476829-G-A c.1577C>T p.Ala526Val Missense 13/18 - 1
7-140476832-A-G c.1574T>C p.Leu525Pro Missense 13/18 - 2
7-140476832-A-C c.1574T>G p.Leu525Arg Missense 13/18 - 4
7-140476832-AG-GA c.1573_1574delinsTC p.Leu525Ser Missense 13/18 - 1
7-140476835-T-A c.1571A>T p.Gln524Leu Missense 13/18 - 4
7-140476844-G-T c.1562C>A p.Thr521Lys Missense 13/18 - 1
7-140476856-AT-GC c.1549_1550delinsGC p.Met517Ala Missense 13/18 - 1
7-140476856-AT-TG c.1549_1550delinsCA p.Met517Gln Missense 13/18 - 1
7-140476859-A-C c.1547T>G p.Phe516Cys Missense 13/18 - 1
7-140476859-AA-GC c.1546_1547delinsGC p.Phe516Ala Missense 13/18 - 2
7-140476859-AA-GA c.1547delinsC p.Phe516Ser Missense 13/18 - 1
7-140476859-AA-GG c.1546_1547delinsCC p.Phe516Pro Missense 13/18 - 1
7-140476860-A-G c.1546T>C p.Phe516Leu Missense 13/18 - 1
7-140476858-G-T c.1548C>A p.Phe516Leu Missense 13/18 - 1
7-140476858-G-C c.1548C>G p.Phe516Leu Missense 13/18 - 1
7-140476862-AG-GG c.1544delinsC p.Leu515Pro Missense 13/18 - 2
7-140476863-G-T c.1543C>A p.Leu515Ile Missense 13/18 - 1
7-140476865-AG-GC c.1540_1541delinsGC p.Leu514Ala Missense 13/18 - 2
7-140476866-G-C c.1540C>G p.Leu514Val Missense 13/18 - 5
7-140476867-GAT-GAG c.1537delinsC p.Ile513Leu Missense 13/18 - 1
7-140476868-AT-GC c.1537_1538delinsGC p.Ile513Ala Missense 13/18 - 1
7-140476871-TT-GC c.1534_1535delinsGC p.Asn512Ala Missense 13/18 - 1
7-140476874-A-G c.1532T>C p.Val511Ala Missense 13/18 - 1
7-140476877-TG-TT c.1528delinsA p.His510Asn Missense 13/18 - 1
7-140476877-TG-GC c.1528_1529delinsGC p.His510Ala Missense 13/18 - 1
7-140476879-TC-AT c.1526_1527delinsAT p.Arg509His Missense 13/18 - 39
7-140476880-CG-GC c.1525_1526delinsGC p.Arg509Ala Missense 13/18 - 3
7-140476882-TGT-GAC c.1522_1524delinsGTC p.Thr508Val Missense 13/18 - 1
7-140476883-G-T c.1523C>A p.Thr508Lys Missense 13/18 - 1
7-140476884-T-C c.1522A>G p.Thr508Ala Missense 13/18 - 2
7-140476886-TT-GC c.1519_1520delinsGC p.Lys507Ala Missense 13/18 - 2
7-140476887-T-C c.1519A>G p.Lys507Glu Missense 13/18 - 1
7-140477791-CT-GC c.1516_1517delinsGC p.Arg506Ala Missense 12/18 - 2
7-140477791-CT-GA c.1516_1517delinsTC p.Arg506Ser Missense 12/18 - 1
7-140477792-T-C c.1516A>G p.Arg506Gly Missense 12/18 - 1
7-140477794-A-T c.1514T>A p.Leu505His Missense 12/18 - 13
7-140477794-AG-GC c.1513_1514delinsGC p.Leu505Ala Missense 12/18 - 1
7-140477795-G-A c.1513C>T p.Leu505Phe Missense 12/18 - 4
7-140477796-T-A c.1512A>T p.Val504Val Synonymous 12/18 - 1
7-140477796-T-G c.1512A>C p.Val504Val Synonymous 12/18 - 1
7-140477796-T-C c.1512A>G p.Val504Val Synonymous 12/18 - 1
7-140477798-C-CATAGGC c.1510_1511insCCTATG p.Gly503_Val504insAlaTyr InFrameInsertion 12/18 - 1
7-140477801-C-T c.1507G>A p.Gly503Arg Missense 12/18 - 1
7-140477801-C-G c.1507G>C p.Gly503Arg Missense 12/18 - 1
7-140477806-T-C c.1502A>G p.Glu501Gly Missense 12/18 - 9
7-140477806-T-A c.1502A>T p.Glu501Val Missense 12/18 - 1
7-140477807-C-T c.1501G>A p.Glu501Lys Missense 12/18 - 8
7-140477807-C-A c.1501G>T p.Glu501* Nonsense 12/18 - 1
7-140477811-T-G c.1497A>C p.Lys499Asn Missense 12/18 - 7
7-140477811-T-A c.1497A>T p.Lys499Asn Missense 12/18 - 4
7-140477813-T-C c.1495A>G p.Lys499Glu Missense 12/18 - 11
7-140477815-A-G c.1493T>C p.Phe498Ser Missense 12/18 - 1
7-140477815-AA-GC c.1492_1493delinsGC p.Phe498Ala Missense 12/18 - 1
7-140477818-G-A c.1490C>T p.Ala497Val Missense 12/18 - 1
7-140477829-GCTG-G c.1480_1482del p.Gln494del InFrameDeletion 12/18 - 1
7-140477832-GAGG-G c.1475_1477del p.Pro492del InFrameDeletion 12/18 - 1
7-140477835-GTGT-G c.1471_1473del p.Thr491del InFrameDeletion 12/18 - 1
7-140477838-TAGG-T c.1468_1470del p.Pro490del InFrameDeletion 12/18 - 9
7-140477838-TAGGTGCTGTCACATT-T c.1457_1471del p.Asn486_Pro490del InFrameDeletion 12/18 - 2
7-140477839-AGGTGCTGTCACATTC-A c.1455_1469del p.Leu485_Pro490delinsPhe MultiAAMissense 12/18 - 1
7-140477840-G-A c.1468C>T p.Pro490Ser Missense 12/18 - 1
7-140477847-CAC-TAT c.1459_1461delinsATA p.Val487Ile Missense 12/18 - 1
7-140477848-AC-TC c.1460delinsA p.Val487Glu Missense 12/18 - 1
7-140477848-A-T c.1460T>A p.Val487Glu Missense 12/18 - 1
7-140477848-A-G c.1460T>C p.Val487Ala Missense 12/18 - 1
7-140477848-A-C c.1460T>G p.Val487Gly Missense 12/18 - 2
7-140477853-C-G c.1455G>C p.Leu485Phe Missense 12/18 - 20
7-140477853-C-A c.1455G>T p.Leu485Phe Missense 12/18 - 20
7-140477854-A-G c.1454T>C p.Leu485Ser Missense 12/18 - 3
7-140477854-A-C c.1454T>G p.Leu485Trp Missense 12/18 - 3
7-140477856-C-A c.1452G>T p.Met484Ile Missense 12/18 - 1
7-140477859-TT-TG c.1448delinsC p.Lys483Thr Missense 12/18 - 10
7-140477860-T-C c.1448A>G p.Lys483Arg Missense 12/18 - 1
7-140477861-T-C c.1447A>G p.Lys483Glu Missense 12/18 - 2
7-140477861-T-G c.1447A>C p.Lys483Gln Missense 12/18 - 1
7-140477862-CAC-TTT c.1444_1446delinsAAA p.Val482Lys Missense 12/18 - 2
7-140477865-TGC-TTT c.1441_1442delinsAA p.Ala481Lys Missense 12/18 - 5
7-140477866-G-T c.1442C>A p.Ala481Glu Missense 12/18 - 1
7-140478254-G-T c.1433-379C>A - IntronicSNV - 11/17 1
7-140481384-T-C c.1424A>G p.Lys475Arg Missense 11/18 - 1
7-140481390-T-C c.1418A>G p.Lys473Arg Missense 11/18 - 1
7-140481393-T-A c.1415A>T p.Tyr472Phe Missense 11/18 - 1
7-140481393-T-C c.1415A>G p.Tyr472Cys Missense 11/18 - 17
7-140481396-A-G c.1412T>C p.Val471Ala Missense 11/18 - 1
7-140481397-C-A c.1411G>T p.Val471Phe Missense 11/18 - 9
7-140481397-C-T c.1411G>A p.Val471Ile Missense 11/18 - 3
7-140481399-TGTT-T c.1408_1410del p.Thr470del InFrameDeletion 11/18 - 1
7-140481400-T-G c.1408A>C p.Thr470Pro Missense 11/18 - 1
7-140481401-T-A c.1407A>T p.Gly469Gly Synonymous 11/18 - 1
7-140481401-T-C c.1407A>G p.Gly469Gly Synonymous 11/18 - 1
7-140481401-T-G c.1407A>C p.Gly469Gly Synonymous 11/18 - 1
7-140481401-TC-AC c.1407delinsT p.Gly469Gly Missense 11/18 - 1
7-140481401-TTCC-T c.1405_1407del p.Gly469del InFrameDeletion 11/18 - 4
7-140481402-CC-GA c.1405_1406delinsTC p.Gly469Ser Missense 11/18 - 1
7-140481402-CC-AA c.1405_1406delinsTT p.Gly469Leu Missense 11/18 - 1
7-140481402-C-G c.1406G>C p.Gly469Ala Missense 11/18 - 205
7-140481402-C-A c.1406G>T p.Gly469Val Missense 11/18 - 70
7-140481402-C-T c.1406G>A p.Gly469Glu Missense 11/18 - 80
7-140481403-C-G c.1405G>C p.Gly469Arg Missense 11/18 - 48
7-140481403-C-A c.1405G>T p.Gly469* Nonsense 11/18 - 3
7-140481403-C-T c.1405G>A p.Gly469Arg Missense 11/18 - 52
7-140481405-A-G c.1403T>C p.Phe468Ser Missense 11/18 - 10
7-140481405-A-C c.1403T>G p.Phe468Cys Missense 11/18 - 14
7-140481406-A-G c.1402T>C p.Phe468Leu Missense 11/18 - 1
7-140481404-A-C c.1404T>G p.Phe468Leu Missense 11/18 - 1
7-140481404-A-T c.1404T>A p.Phe468Leu Missense 11/18 - 1
7-140481408-G-A c.1400C>T p.Ser467Leu Missense 11/18 - 20
7-140481409-A-C c.1399T>G p.Ser467Ala Missense 11/18 - 7
7-140481410-T-G c.1398A>C p.Gly466Gly Synonymous 11/18 - 1
7-140481410-T-C c.1398A>G p.Gly466Gly Synonymous 11/18 - 1
7-140481410-T-A c.1398A>T p.Gly466Gly Synonymous 11/18 - 1
7-140481411-C-G c.1397G>C p.Gly466Ala Missense 11/18 - 45
7-140481411-C-T c.1397G>A p.Gly466Glu Missense 11/18 - 68
7-140481411-C-A c.1397G>T p.Gly466Val Missense 11/18 - 102
7-140481412-C-A c.1396G>T p.Gly466* Nonsense 11/18 - 1
7-140481412-C-G c.1396G>C p.Gly466Arg Missense 11/18 - 31
7-140481412-C-T c.1396G>A p.Gly466Arg Missense 11/18 - 34
7-140481413-AGA-GAG c.1393_1395delinsCTC p.Ser465Leu Missense 11/18 - 1
7-140481413-A-AA c.1395dup p.Gly466Trpfs*14 Frameshift 11/18 - 1
7-140481414-G-T c.1394C>A p.Ser465Tyr Missense 11/18 - 1
7-140481414-G-A c.1394C>T p.Ser465Phe Missense 11/18 - 2
7-140481415-A-C c.1393T>G p.Ser465Ala Missense 11/18 - 1
7-140481417-C-G c.1391G>C p.Gly464Ala Missense 11/18 - 3
7-140481417-C-A c.1391G>T p.Gly464Val Missense 11/18 - 63
7-140481417-C-T c.1391G>A p.Gly464Glu Missense 11/18 - 34
7-140481417-CC-AT c.1390_1391delinsAT p.Gly464Ile Missense 11/18 - 1
7-140481418-C-T c.1390G>A p.Gly464Arg Missense 11/18 - 18
7-140481418-C-G c.1390G>C p.Gly464Arg Missense 11/18 - 16
7-140481420-A-G c.1388T>C p.Ile463Thr Missense 11/18 - 2
7-140481420-A-C c.1388T>G p.Ile463Ser Missense 11/18 - 5
7-140481423-CT-GC c.1384_1385delinsGC p.Arg462Ala Missense 11/18 - 1
7-140481423-CT-GA c.1384_1385delinsTC p.Arg462Ser Missense 11/18 - 1
7-140481423-C-T c.1385G>A p.Arg462Lys Missense 11/18 - 2
7-140481423-C-A c.1385G>T p.Arg462Ile Missense 11/18 - 7
7-140481423-C-G c.1385G>C p.Arg462Thr Missense 11/18 - 2
7-140481425-TTT-T c.1383_1384del p.Arg462Asnfs*17 Frameshift 11/18 - 1
7-140481426-TTGT-T c.1381_1383del p.Gln461del InFrameDeletion 11/18 - 1
7-140481427-G-A c.1381C>T p.Gln461* Nonsense 11/18 - 1
7-140481429-C-A c.1379G>T p.Gly460Val Missense 11/18 - 1
7-140481431-C-T c.1377G>A p.Val459Val Synonymous 11/18 - 1
7-140481431-C-A c.1377G>T p.Val459Val Synonymous 11/18 - 1
7-140481431-C-G c.1377G>C p.Val459Val Synonymous 11/18 - 1
7-140481433-C-A c.1375G>T p.Val459Leu Missense 11/18 - 3
7-140481433-C-G c.1375G>C p.Val459Leu Missense 11/18 - 3
7-140481438-A-G c.1370T>C p.Ile457Thr Missense 11/18 - 1
7-140481441-T-C c.1367A>G p.Gln456Arg Missense 11/18 - 1
7-140481442-G-T c.1366C>A p.Gln456Lys Missense 11/18 - 2
7-140481445-C-T c.1363G>A p.Gly455Arg Missense 11/18 - 3
7-140481447-ATCA-A c.1361_1363del p.Asp454del InFrameDeletion 11/18 - 1
7-140481450-G-T c.1358C>A p.Pro453His Missense 11/18 - 2
7-140481451-G-T c.1357C>A p.Pro453Thr Missense 11/18 - 1
7-140481451-G-A c.1357C>T p.Pro453Ser Missense 11/18 - 1
7-140481455-C-G c.1353G>C p.Glu451Asp Missense 11/18 - 1
7-140481455-C-A c.1353G>T p.Glu451Asp Missense 11/18 - 1
7-140481457-C-T c.1351G>A p.Glu451Lys Missense 11/18 - 2
7-140481457-C-G c.1351G>C p.Glu451Gln Missense 11/18 - 1
7-140481459-C-T c.1349G>A p.Trp450* Nonsense 11/18 - 2
7-140481459-C-A c.1349G>T p.Trp450Leu Missense 11/18 - 1
7-140481459-CA-GC c.1348_1349delinsGC p.Trp450Ala Missense 11/18 - 2
7-140481461-A-T c.1347T>A p.Asp449Glu Missense 11/18 - 3
7-140481461-A-C c.1347T>G p.Asp449Glu Missense 11/18 - 3
7-140481463-C-A c.1345G>T p.Asp449Tyr Missense 11/18 - 1
7-140481463-C-T c.1345G>A p.Asp449Asn Missense 11/18 - 1
7-140481466-C-A c.1342G>T p.Asp448Tyr Missense 11/18 - 1
7-140481475-C-A c.1333G>T p.Asp445Tyr Missense 11/18 - 1
7-140481476-C-T c.1332G>A p.Arg444Arg Synonymous 11/18 - 1
7-140481477-C-T c.1331G>A p.Arg444Gln Missense 11/18 - 1
7-140481478-G-A c.1330C>T p.Arg444Trp Missense 11/18 - 4
7-140481480-CT-GC c.1327_1328delinsGC p.Arg443Ala Missense 11/18 - 1
7-140481483-C-T c.1325G>A p.Gly442Asp Missense 11/18 - 2
7-140481484-C-T c.1324G>A p.Gly442Ser Missense 11/18 - 3
7-140481489-G-A c.1319C>T p.Thr440Ile Missense 11/18 - 1
7-140481490-T-G c.1318A>C p.Thr440Pro Missense 11/18 - 1
7-140481492-T-G c.1316A>C p.Lys439Thr Missense 11/18 - 1
7-140481493-T-G c.1315A>C p.Lys439Gln Missense 11/18 - 1
7-140481497-G-C c.1315-4C>G - IntronicSNV - 10/17 1
7-140482830-C-G c.1305G>C p.Arg435Ser Missense 10/18 - 1
7-140482830-C-A c.1305G>T p.Arg435Ser Missense 10/18 - 1
7-140482838-C-T c.1297G>A p.Glu433Lys Missense 10/18 - 1
7-140482841-A-G c.1294T>C p.Ser432Pro Missense 10/18 - 1
7-140482844-A-C c.1291T>G p.Ser431Ala Missense 10/18 - 1
7-140482849-GA-CG c.1285_1286delinsCG p.Ser429Arg Missense 10/18 - 1
7-140482849-G-T c.1286C>A p.Ser429Tyr Missense 10/18 - 1
7-140482850-A-C c.1285T>G p.Ser429Ala Missense 10/18 - 2
7-140482874-C-G c.1261G>C p.Gly421Arg Missense 10/18 - 1
7-140482874-C-T c.1261G>A p.Gly421Arg Missense 10/18 - 1
7-140482882-T-C c.1253A>G p.Lys418Arg Missense 10/18 - 1
7-140482898-C-G c.1237G>C p.Val413Leu Missense 10/18 - 1
7-140482898-C-A c.1237G>T p.Val413Leu Missense 10/18 - 1
7-140482899-G-T c.1236C>A p.Asn412Lys Missense 10/18 - 1
7-140482899-G-C c.1236C>G p.Asn412Lys Missense 10/18 - 1
7-140482910-A-C c.1225T>G p.Ser409Ala Missense 10/18 - 1
7-140482915-G-A c.1220C>T p.Pro407Leu Missense 10/18 - 1
7-140482922-A-C c.1213T>G p.Ser405Ala Missense 10/18 - 1
7-140482928-G-A c.1207C>T p.Pro403Ser Missense 10/18 - 1
7-140482930-G-T c.1205C>A p.Pro402His Missense 10/18 - 2
7-140482931-G-C c.1204C>G p.Pro402Ala Missense 10/18 - 1
7-140482933-G-GG c.1208dup p.Ala404Cysfs*9 Frameshift 10/18 - 1
7-140482933-G-A c.1202C>T p.Thr401Ile Missense 10/18 - 1
7-140482934-T-C c.1201A>G p.Thr401Ala Missense 10/18 - 2
7-140482946-C-T c.1189G>A p.Gly397Ser Missense 10/18 - 1
7-140482953-TGA-GAC c.1180_1182delinsGTC p.Ser394Val Missense 10/18 - 1
7-140482955-A-C c.1180T>G p.Ser394Ala Missense 10/18 - 1
7-140485690-C-T c.1177+1658G>A - IntronicSNV - 9/17 1
7-140485690-C-A c.1177+1658G>T - IntronicSNV - 9/17 1
7-140487360-G-A c.1165C>T p.Arg389Cys Missense 9/18 - 2
7-140487375-T-C c.1150A>G p.Arg384Gly Missense 9/18 - 1
7-140487386-T-C c.1141-2A>G - IntronicSNV - 8/17 1
7-140492039-T-C c.1140+2069A>G - IntronicSNV - 8/17 1
7-140494148-G-A c.1100C>T p.Pro367Leu Missense 8/18 - 1
7-140494148-G-C c.1100C>G p.Pro367Arg Missense 8/18 - 2
7-140494152-C-G c.1096G>C p.Ala366Pro Missense 8/18 - 1
7-140494152-C-CC c.1096dup p.Ala366Glyfs*15 Frameshift 8/18 - 1
7-140494154-G-A c.1094C>T p.Ser365Leu Missense 8/18 - 2
7-140494155-A-C c.1093T>G p.Ser365Ala Missense 8/18 - 11
7-140494156-T-A c.1092A>T p.Ser364Ser Synonymous 8/18 - 1
7-140494168-TCG-TGT c.1078_1079delinsAC p.Arg360Thr Missense 8/18 - 1
7-140494168-TCG-TGG c.1079delinsC p.Arg360Pro Missense 8/18 - 1
7-140494187-C-T c.1061G>A p.Arg354Gln Missense 8/18 - 2
7-140494199-T-G c.1049A>C p.Asp350Ala Missense 8/18 - 1
7-140494200-C-A c.1048G>T p.Asp350Tyr Missense 8/18 - 1
7-140494202-G-A c.1046C>T p.Ala349Val Missense 8/18 - 1
7-140494208-C-T c.1040G>A p.Arg347Gln Missense 8/18 - 1
7-140494209-G-A c.1039C>T p.Arg347* Nonsense 8/18 - 1
7-140494212-A-G c.1036T>C p.Phe346Leu Missense 8/18 - 1
7-140494245-A-C c.1003T>G p.Ser335Ala Missense 8/18 - 1
7-140494250-CT-TT c.998delinsA p.Ser333Asn Missense 8/18 - 1
7-140494266-G-A c.982C>T p.Pro328Ser Missense 8/18 - 1
7-140494269-T-C c.981-2A>G - IntronicSNV - 7/17 1
7-140495573-T-C c.981-1306A>G - IntronicSNV - 7/17 1
7-140495573-T-A c.981-1306A>T - IntronicSNV - 7/17 1
7-140495573-T-G c.981-1306A>C - IntronicSNV - 7/17 1
7-140496203-A-G c.981-1936T>C - IntronicSNV - 7/17 1
7-140496563-T-C c.981-2296A>G - IntronicSNV - 7/17 1
7-140499107-C-T c.980+1055G>A - IntronicSNV - 7/17 2
7-140500165-A-G c.977T>C p.Ile326Thr Missense 7/18 - 2
7-140500166-T-C c.976A>G p.Ile326Val Missense 7/18 - 3
7-140500175-A-G c.967T>C p.Ser323Pro Missense 7/18 - 1
7-140500179-G-A c.963C>T p.Pro321Pro Synonymous 7/18 - 1
7-140500179-G-T c.963C>A p.Pro321Pro Synonymous 7/18 - 1
7-140500179-G-C c.963C>G p.Pro321Pro Synonymous 7/18 - 1
7-140500180-GG-TT c.961_962delinsAA p.Pro321Asn Missense 7/18 - 1
7-140500180-G-A c.962C>T p.Pro321Leu Missense 7/18 - 3
7-140500181-G-A c.961C>T p.Pro321Ser Missense 7/18 - 1
7-140500183-G-A c.959C>T p.Ala320Val Missense 7/18 - 1
7-140500187-A-C c.955T>G p.Ser319Ala Missense 7/18 - 1
7-140500189-GG-TT c.952_953delinsAA p.Pro318Asn Missense 7/18 - 1
7-140500190-G-A c.952C>T p.Pro318Ser Missense 7/18 - 1
7-140500192-G-C c.950C>G p.Ser317Cys Missense 7/18 - 1
7-140500195-G-A c.947C>T p.Ser316Leu Missense 7/18 - 1
7-140500196-A-C c.946T>G p.Ser316Ala Missense 7/18 - 1
7-140500201-G-A c.941C>T p.Ser314Phe Missense 7/18 - 1
7-140500213-G-A c.929C>T p.Thr310Ile Missense 7/18 - 2
7-140500220-C-A c.922G>T p.Ala308Ser Missense 7/18 - 1
7-140500220-C-T c.922G>A p.Ala308Thr Missense 7/18 - 1
7-140500244-T-C c.898A>G p.Ile300Val Missense 7/18 - 1
7-140500250-G-A c.892C>T p.His298Tyr Missense 7/18 - 1
7-140500256-C-T c.886G>A p.Glu296Lys Missense 7/18 - 3
7-140500260-G-C c.882C>G p.Phe294Leu Missense 7/18 - 1
7-140500260-G-T c.882C>A p.Phe294Leu Missense 7/18 - 1
7-140500262-A-G c.880T>C p.Phe294Leu Missense 7/18 - 1
7-140500276-AG-GC c.865_866delinsGC p.Leu289Ala Missense 7/18 - 1
7-140500280-A-G c.862T>C p.Leu288Leu Synonymous 7/18 - 1
7-140500278-C-T c.864G>A p.Leu288Leu Synonymous 7/18 - 1
7-140500451-T-A c.861-170A>T - IntronicSNV - 6/17 1
7-140501212-T-A c.860A>T p.Asp287Val Missense 6/18 - 1
7-140501213-C-G c.859G>C p.Asp287His Missense 6/18 - 3
7-140501222-C-G c.850G>C p.Asp284His Missense 6/18 - 1
7-140501231-C-A c.841G>T p.Val281Phe Missense 6/18 - 1
7-140501236-A-C c.836T>G p.Met279Arg Missense 6/18 - 1
7-140501249-C-T c.823G>A p.Glu275Lys Missense 6/18 - 2
7-140501254-C-T c.818G>A p.Ser273Asn Missense 6/18 - 1
7-140501255-T-C c.817A>G p.Ser273Gly Missense 6/18 - 1
7-140501258-A-C c.814T>G p.Cys272Gly Missense 6/18 - 1
7-140501273-TT-T c.801del p.Lys267Asnfs*12 Frameshift 6/18 - 1
7-140501287-T-C c.785A>G p.Gln262Arg Missense 6/18 - 2
7-140501288-G-T c.784C>A p.Gln262Lys Missense 6/18 - 1
7-140501301-C-A c.771G>T p.Gln257His Missense 6/18 - 2
7-140501301-C-G c.771G>C p.Gln257His Missense 6/18 - 2
7-140501302-T-C c.770A>G p.Gln257Arg Missense 6/18 - 41
7-140501303-G-A c.769C>T p.Gln257* Nonsense 6/18 - 1
7-140501320-CA-AC c.751_752delinsGT p.Cys251Val Missense 6/18 - 1
7-140501332-A-G c.740T>C p.Phe247Ser Missense 6/18 - 1
7-140501331-A-C c.741T>G p.Phe247Leu Missense 6/18 - 4
7-140501336-C-G c.736G>C p.Ala246Pro Missense 6/18 - 10
7-140501337-T-A c.735A>T p.Leu245Phe Missense 6/18 - 12
7-140501337-T-G c.735A>C p.Leu245Phe Missense 6/18 - 8
7-140501342-T-C c.730A>G p.Thr244Ala Missense 6/18 - 1
7-140501342-T-G c.730A>C p.Thr244Pro Missense 6/18 - 1
7-140501350-G-C c.722C>G p.Thr241Arg Missense 6/18 - 5
7-140501350-G-A c.722C>T p.Thr241Met Missense 6/18 - 5
7-140501351-T-G c.721A>C p.Thr241Pro Missense 6/18 - 8
7-140501357-G-A c.715C>T p.Arg239* Nonsense 6/18 - 1
7-140505853-C-G c.711+1907G>C - IntronicSNV - 5/17 1
7-140507788-T-A c.683A>T p.Glu228Val Missense 5/18 - 1
7-140507795-C-T c.676G>A p.Val226Met Missense 5/18 - 1
7-140507815-C-G c.656G>C p.Gly219Ala Missense 5/18 - 2
7-140507827-GA-CG c.643_644delinsCG p.Ser215Arg Missense 5/18 - 2
7-140507827-GA-AA c.644delinsT p.Ser215Phe Missense 5/18 - 1
7-140507839-T-C c.632A>G p.Asp211Gly Missense 5/18 - 4
7-140507845-CC-AC c.626delinsT p.Gly209Val Missense 5/18 - 1
7-140507847-A-C c.624T>G p.Ile208Met Missense 5/18 - 1
7-140507849-T-C c.622A>G p.Ile208Val Missense 5/18 - 1
7-140507858-T-G c.613A>C p.Lys205Gln Missense 5/18 - 1
7-140507861-C-A c.610G>T p.Glu204* Nonsense 5/18 - 2
7-140508694-A-C c.606T>G p.Asp202Glu Missense 4/18 - 1
7-140508694-A-T c.606T>A p.Asp202Glu Missense 4/18 - 1
7-140508695-T-C c.605A>G p.Asp202Gly Missense 4/18 - 1
7-140508697-C-A c.603G>T p.Gln201His Missense 4/18 - 1
7-140508697-C-G c.603G>C p.Gln201His Missense 4/18 - 1
7-140508699-G-A c.601C>T p.Gln201* Nonsense 4/18 - 1
7-140508699-G-T c.601C>A p.Gln201Lys Missense 4/18 - 1
7-140508700-A-C c.600T>G p.Ile200Met Missense 4/18 - 1
7-140508701-A-G c.599T>C p.Ile200Thr Missense 4/18 - 1
7-140508705-T-C c.595A>G p.Arg199Gly Missense 4/18 - 1
7-140508737-CT-GC c.562_563delinsGC p.Arg188Ala Missense 4/18 - 1
7-140508749-G-A c.551C>T p.Ala184Val Missense 4/18 - 1
7-140508752-T-C c.548A>G p.Lys183Arg Missense 4/18 - 1
7-140508753-T-C c.547A>G p.Lys183Glu Missense 4/18 - 2
7-140508767-C-T c.533G>A p.Arg178Gln Missense 4/18 - 1
7-140508774-T-C c.526A>G p.Thr176Ala Missense 4/18 - 1
7-140508778-TCC-TGT c.520_521delinsAC p.Gly174Thr Missense 4/18 - 1
7-140508784-CCT-CAT c.515delinsT p.Arg172Met Missense 4/18 - 35
7-140508785-C-T c.515G>A p.Arg172Lys Missense 4/18 - 1
7-140508785-CT-CC c.514delinsG p.Arg172Gly Missense 4/18 - 3
7-140508790-A-AA c.510dup p.Ala171Cysfs*43 Frameshift 4/18 - 1
7-140509287-C-G c.505-492G>C - IntronicSNV - 3/17 1
7-140525719-G-A c.504+8690C>T - IntronicSNV - 3/17 1
7-140525883-C-G c.504+8526G>C - IntronicSNV - 3/17 1
7-140525883-C-T c.504+8526G>A - IntronicSNV - 3/17 1
7-140528317-A-G c.504+6092T>C - IntronicSNV - 3/17 2
7-140528317-A-T c.504+6092T>A - IntronicSNV - 3/17 2
7-140534407-A-G c.504+2T>C - IntronicSNV - 3/17 1
7-140534412-T-TT c.501dup p.Val168Serfs*46 Frameshift 3/18 - 1
7-140534416-CT-GC c.496_497delinsGC p.Arg166Ala Missense 3/18 - 1
7-140534422-T-C c.491A>G p.Lys164Arg Missense 3/18 - 1
7-140534439-TCT-CAT c.473_474delinsTG p.Arg158Met Missense 3/18 - 1
7-140534440-C-T c.473G>A p.Arg158Lys Missense 3/18 - 1
7-140534444-C-A c.469G>T p.Val157Phe Missense 3/18 - 1
7-140534459-G-A c.454C>T p.Pro152Ser Missense 3/18 - 2
7-140534460-TGA-GAC c.451_453delinsGTC p.Ser151Val Missense 3/18 - 4
7-140534462-A-C c.451T>G p.Ser151Ala Missense 3/18 - 1
7-140534474-T-C c.439A>G p.Ser147Gly Missense 3/18 - 1
7-140534475-CCG-AGC c.436_438delinsGCT p.Arg146Ala Missense 3/18 - 1
7-140534475-CCG-TGT c.436_438delinsACA p.Arg146Thr Missense 3/18 - 1
7-140534475-CC-AT c.437_438delinsAT p.Arg146His Missense 3/18 - 2
7-140534476-C-A c.437G>T p.Arg146Leu Missense 3/18 - 1
7-140534486-C-T c.427G>A p.Asp143Asn Missense 3/18 - 1
7-140534507-A-C c.406T>G p.Ser136Ala Missense 3/18 - 1
7-140534510-G-A c.403C>T p.Leu135Phe Missense 3/18 - 1
7-140534516-A-C c.397T>G p.Ser133Ala Missense 3/18 - 1
7-140534518-G-T c.395C>A p.Pro132His Missense 3/18 - 1
7-140534533-CT-CC c.379delinsG p.Ser127Gly Missense 3/18 - 1
7-140534536-GA-CT c.376_377delinsAG p.Ser126Ser Missense 3/18 - 1
7-140534539-GA-CT c.373_374delinsAG p.Ser125Ser Missense 3/18 - 4
7-140534542-G-C c.371C>G p.Ser124Cys Missense 3/18 - 1
7-140534542-G-A c.371C>T p.Ser124Phe Missense 3/18 - 3
7-140534543-A-C c.370T>G p.Ser124Ala Missense 3/18 - 1
7-140534555-C-T c.358G>A p.Val120Ile Missense 3/18 - 1
7-140534557-G-C c.356C>G p.Thr119Ser Missense 3/18 - 4
7-140534558-T-A c.355A>T p.Thr119Ser Missense 3/18 - 4
7-140534559-A-G c.354T>C p.Asp118Asp Synonymous 3/18 - 1
7-140534562-C-G c.351G>C p.Met117Ile Missense 3/18 - 1
7-140534574-GCT-GAG c.337_338delinsCT p.Ser113Leu Missense 3/18 - 1
7-140534575-C-CGAC c.338_339insTCG p.Ser113_Ser114insArg InFrameInsertion 3/18 - 1
7-140534579-A-C c.334T>G p.Ser112Ala Missense 3/18 - 1
7-140534584-AGAA-A c.328_330del p.Ser110del InFrameDeletion 3/18 - 1
7-140534588-A-C c.325T>G p.Phe109Val Missense 3/18 - 1
7-140534593-AG-A c.320del p.Thr107Metfs*75 Frameshift 3/18 - 1
7-140534597-C-T c.316G>A p.Gly106Arg Missense 3/18 - 1
7-140534597-C-G c.316G>C p.Gly106Arg Missense 3/18 - 1
7-140534599-T-C c.314A>G p.Asn105Ser Missense 3/18 - 1
7-140534601-CCC-AGC c.311_312delinsCT p.Gly104Ala Missense 3/18 - 1
7-140534603-C-G c.310G>C p.Gly104Arg Missense 3/18 - 1
7-140534603-C-T c.310G>A p.Gly104Arg Missense 3/18 - 1
7-140534612-C-A c.301G>T p.Glu101* Nonsense 3/18 - 2
7-140534634-T-G c.279A>C p.Gln93His Missense 3/18 - 1
7-140534640-TGC-TGT c.271delinsA p.Ala91Thr Missense 3/18 - 1
7-140534644-T-G c.269A>C p.Asp90Ala Missense 3/18 - 2
7-140534651-T-C c.262A>G p.Lys88Glu Missense 3/18 - 1
7-140534661-TTC-TGT c.250_251delinsAC p.Glu84Thr Missense 3/18 - 1
7-140534664-TTC-TTT c.247delinsA p.Glu83Lys Missense 3/18 - 1
7-140534669-A-G c.244T>C p.Tyr82His Missense 3/18 - 1
7-140534670-GG-AG c.243delinsT p.Ala81Ala Missense 3/18 - 1
7-140536739-A-C c.241-2067T>G - IntronicSNV - 2/17 1
7-140538991-T-C c.241-4319A>G - IntronicSNV - 2/17 1
7-140544165-T-C c.240+5746A>G - IntronicSNV - 2/17 1
7-140547786-A-C c.240+2125T>G - IntronicSNV - 2/17 1
7-140549915-A-T c.236T>A p.Leu79Gln Missense 2/18 - 1
7-140549925-A-G c.226T>C p.Ser76Pro Missense 2/18 - 1
7-140549927-G-A c.224C>T p.Pro75Leu Missense 2/18 - 1
7-140549927-G-T c.224C>A p.Pro75Gln Missense 2/18 - 1
7-140549928-G-A c.223C>T p.Pro75Ser Missense 2/18 - 1
7-140549931-G-C c.220C>G p.Pro74Ala Missense 2/18 - 1
7-140549940-C-T c.211G>A p.Glu71Lys Missense 2/18 - 1
7-140549953-G-C c.198C>G p.Asp66Glu Missense 2/18 - 2
7-140549953-G-T c.198C>A p.Asp66Glu Missense 2/18 - 2
7-140549961-G-T c.190C>A p.Leu64Ile Missense 2/18 - 1
7-140549965-CTC-TGT c.184_186delinsACA p.Glu62Thr Missense 2/18 - 1
7-140549968-T-A c.183A>T p.Ile61Ile Synonymous 2/18 - 4
7-140549968-T-G c.183A>C p.Ile61Ile Synonymous 2/18 - 2
7-140549969-A-T c.182T>A p.Ile61Lys Missense 2/18 - 1
7-140549970-T-C c.181A>G p.Ile61Val Missense 2/18 - 1
7-140549972-TG-GC c.178_179delinsGC p.His60Ala Missense 2/18 - 1
7-140549981-G-A c.170C>T p.Thr57Ile Missense 2/18 - 1
7-140549988-TT-T c.164del p.Lys55Serfs*2 Frameshift 2/18 - 1
7-140549989-AA-AG c.161delinsC p.Ile54Thr Missense 2/18 - 1
7-140549989-AAT-GAG c.160_162delinsCTC p.Ile54Leu Missense 2/18 - 1
7-140549989-AAT-CAA c.160_162delinsTTG p.Ile54Leu Missense 2/18 - 1
7-140549990-AT-GA c.160_161delinsTC p.Ile54Ser Missense 2/18 - 1
7-140549990-AT-CA c.160_161delinsTG p.Ile54Cys Missense 2/18 - 1
7-140549990-AT-CC c.160_161delinsGG p.Ile54Gly Missense 2/18 - 1
7-140549990-A-C c.161T>G p.Ile54Ser Missense 2/18 - 1
7-140549990-AT-GG c.160_161delinsCC p.Ile54Pro Missense 2/18 - 1
7-140549990-AT-TA c.160_161delinsTA p.Ile54Tyr Missense 2/18 - 1
7-140549992-CAT-GAC c.157_159delinsGTC p.Met53Val Missense 2/18 - 1
7-140549992-C-G c.159G>C p.Met53Ile Missense 2/18 - 1
7-140549999-TT-GC c.151_152delinsGC p.Lys51Ala Missense 2/18 - 1
7-140550001-G-T c.150C>A p.Ile50Ile Synonymous 2/18 - 1
7-140550001-G-A c.150C>T p.Ile50Ile Synonymous 2/18 - 1
7-140550005-T-A c.146A>T p.Asn49Ile Missense 2/18 - 1
7-140550007-C-T c.144G>A p.Trp48* Nonsense 2/18 - 1
7-140550011-A-G c.140T>C p.Val47Ala Missense 2/18 - 1
7-140556167-C-T c.139-6155G>A - IntronicSNV - 1/17 2
7-140556557-C-A c.139-6545G>T - IntronicSNV - 1/17 2
7-140558740-G-C c.139-8728C>G - IntronicSNV - 1/17 2
7-140560018-C-T c.139-10006G>A - IntronicSNV - 1/17 1
7-140560023-T-C c.139-10011A>G - IntronicSNV - 1/17 1
7-140560023-T-A c.139-10011A>T - IntronicSNV - 1/17 1
7-140592227-T-C c.138+32139A>G - IntronicSNV - 1/17 1
7-140592227-T-G c.138+32139A>C - IntronicSNV - 1/17 1
7-140610597-C-T c.138+13769G>A - IntronicSNV - 1/17 2
7-140612163-A-G c.138+12203T>C - IntronicSNV - 1/17 2
7-140612163-A-T c.138+12203T>A - IntronicSNV - 1/17 2
7-140614212-A-T c.138+10154T>A - IntronicSNV - 1/17 1
7-140614212-A-G c.138+10154T>C - IntronicSNV - 1/17 1
7-140614387-A-T c.138+9979T>A - IntronicSNV - 1/17 1
7-140614830-T-C c.138+9536A>G - IntronicSNV - 1/17 1
7-140614830-T-A c.138+9536A>T - IntronicSNV - 1/17 1
7-140624373-G-A c.131C>T p.Pro44Leu Missense 1/18 - 1
7-140624379-GC-TG c.124_125delinsCA p.Ala42His Missense 1/18 - 1
7-140624379-GC-CT c.124_125delinsAG p.Ala42Ser Missense 1/18 - 1
7-140624385-T-G c.119A>C p.Asp40Ala Missense 1/18 - 1
7-140624385-TC-TT c.118delinsA p.Asp40Asn Missense 1/18 - 1
7-140624387-CGC-TGT c.115_117delinsACA p.Ala39Thr Missense 1/18 - 1
7-140624388-GC-AG c.115_116delinsCT p.Ala39Leu Missense 1/18 - 1
7-140624390-A-G c.114T>C p.Ala38Ala Synonymous 1/18 - 1
7-140624390-A-C c.114T>G p.Ala38Ala Synonymous 1/18 - 1
7-140624390-A-T c.114T>A p.Ala38Ala Synonymous 1/18 - 1
7-140624391-GC-TT c.112_113delinsAA p.Ala38Asn Missense 1/18 - 1
7-140624393-CG-GT c.110_111delinsAC p.Ser37Tyr Missense 1/18 - 3
7-140624393-CG-AT c.110_111delinsAT p.Ser37Tyr Missense 1/18 - 2
7-140624393-CG-TT c.110_111delinsAA p.Ser37* Missense 1/18 - 4
7-140624394-GA-GT c.109delinsA p.Ser37Thr Missense 1/18 - 1
7-140624394-G-T c.110C>A p.Ser37* Nonsense 1/18 - 1
7-140624395-A-G c.109T>C p.Ser37Pro Missense 1/18 - 1
7-140624395-A-C c.109T>G p.Ser37Ala Missense 1/18 - 4
7-140624400-GC-TT c.103_104delinsAA p.Ala35Asn Missense 1/18 - 1
7-140624405-G-C c.99C>G p.Ala33Ala Synonymous 1/18 - 1
7-140624405-GG-AG c.99delinsT p.Ala33Ala Missense 1/18 - 2
7-140624405-G-T c.99C>A p.Ala33Ala Synonymous 1/18 - 1
7-140624405-G-A c.99C>T p.Ala33Ala Synonymous 1/18 - 1
7-140624406-GC-TG c.97_98delinsCA p.Ala33His Missense 1/18 - 1
7-140624406-GC-AA c.97_98delinsTT p.Ala33Phe Missense 1/18 - 1
7-140624407-C-T c.97G>A p.Ala33Thr Missense 1/18 - 1
7-140624414-GC-AG c.89_90delinsCT p.Gly30Ala Missense 1/18 - 1
7-140624415-CC-AA c.88_89delinsTT p.Gly30Phe Missense 1/18 - 1
7-140624415-C-T c.89G>A p.Gly30Asp Missense 1/18 - 1
7-140624417-GG-AG c.87delinsT p.Ala29Ala Missense 1/18 - 1
7-140624418-GC-AA c.85_86delinsTT p.Ala29Phe Missense 1/18 - 1
7-140624418-GC-TA c.85_86delinsTA p.Ala29Tyr Missense 1/18 - 1
7-140624422-C-A c.82G>T p.Gly28Cys Missense 1/18 - 1
7-140624423-G-A c.81C>T p.Ala27Ala Synonymous 1/18 - 1
7-140624423-G-C c.81C>G p.Ala27Ala Synonymous 1/18 - 1
7-140624423-G-T c.81C>A p.Ala27Ala Synonymous 1/18 - 1
7-140624424-GC-CT c.79_80delinsAG p.Ala27Ser Missense 1/18 - 1
7-140624424-GC-TT c.79_80delinsAA p.Ala27Asn Missense 1/18 - 1
7-140624424-G-T c.80C>A p.Ala27Asp Missense 1/18 - 1
7-140624430-G-A c.74C>T p.Pro25Leu Missense 1/18 - 2
7-140624431-G-T c.73C>A p.Pro25Thr Missense 1/18 - 1
7-140624438-G-C c.66C>G p.Asp22Glu Missense 1/18 - 1
7-140624438-G-T c.66C>A p.Asp22Glu Missense 1/18 - 1
7-140624439-T-C c.65A>G p.Asp22Gly Missense 1/18 - 2
7-140624440-C-T c.64G>A p.Asp22Asn Missense 1/18 - 2
7-140624442-CC-AC c.62delinsT p.Gly21Val Missense 1/18 - 1
7-140624445-TT-GC c.58_59delinsGC p.Asn20Ala Missense 1/18 - 1
7-140624454-G-T c.50C>A p.Ala17Asp Missense 1/18 - 1
7-140624455-C-T c.49G>A p.Ala17Thr Missense 1/18 - 2
7-140624457-T-C c.47A>G p.Gln16Arg Missense 1/18 - 4
7-140624457-T-A c.47A>T p.Gln16Leu Missense 1/18 - 2
7-140624460-C-A c.44G>T p.Gly15Val Missense 1/18 - 1
7-140624460-C-T c.44G>A p.Gly15Asp Missense 1/18 - 1
7-140624463-G-A c.41C>T p.Pro14Leu Missense 1/18 - 1
7-140624465-CTC-TTT c.37_39delinsAAA p.Glu13Lys Missense 1/18 - 4
7-140624465-CTC-TGT c.37_39delinsACA p.Glu13Thr Missense 1/18 - 1
7-140624467-C-G c.37G>C p.Glu13Gln Missense 1/18 - 1
7-140624468-C-A c.36G>T p.Ala12Ala Synonymous 1/18 - 1
7-140624468-C-G c.36G>C p.Ala12Ala Synonymous 1/18 - 1
7-140624468-C-T c.36G>A p.Ala12Ala Synonymous 1/18 - 1
7-140624469-G-A c.35C>T p.Ala12Val Missense 1/18 - 1
7-140624469-G-T c.35C>A p.Ala12Glu Missense 1/18 - 2
7-140624470-C-A c.34G>T p.Ala12Ser Missense 1/18 - 5
7-140624470-C-G c.34G>C p.Ala12Pro Missense 1/18 - 4
7-140624470-C-T c.34G>A p.Ala12Thr Missense 1/18 - 2
7-140624472-GCCGCCACCACCGCCACCGCTCAGC-G c.9_32del p.Leu4_Gly11del InFrameDeletion 1/18 - 1
7-140624472-C-A c.32G>T p.Gly11Val Missense 1/18 - 1
7-140624473-C-T c.31G>A p.Gly11Ser Missense 1/18 - 1
7-140624474-GC-AG c.29_30delinsCT p.Gly10Ala Missense 1/18 - 1
7-140624478-C-G c.26G>C p.Gly9Ala Missense 1/18 - 1
7-140624479-C-T c.25G>A p.Gly9Ser Missense 1/18 - 1
7-140624482-C-G c.22G>C p.Gly8Arg Missense 1/18 - 1
7-140624485-C-T c.19G>A p.Gly7Ser Missense 1/18 - 1
7-140624501-C-T c.3G>A p.Met1? Missense 1/18 - 1
7-140624508-T-C c.-5A>G - 5-UTRSNV 1/18 - 1
7-140624508-T-A c.-5A>T - 5-UTRSNV 1/18 - 1
7-140624510-A-G c.-7T>C - 5-UTRSNV 1/18 - 1
7-140624521-G-C c.-18C>G - 5-UTRSNV 1/18 - 1
7-140624522-G-A c.-19C>T - 5-UTRSNV 1/18 - 1
7-140624540-C-T c.-37G>A - 5-UTRSNV 1/18 - 1
7-140624628-G-T c.-125C>A - IntergenicSNV 1/18 - 1
7-140624649-C-T c.-146G>A - IntergenicSNV 1/18 - 1