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 |