12-62654197-T-C |
c.2T>C |
p.M1? |
Missense |
1/22 |
- |
1 |
12-62654206-G-T |
c.11G>T |
p.G4V |
Missense |
1/22 |
- |
1 |
12-62654208-GGA-AGC |
c.13_15delinsAGC |
p.G5S |
Missense |
1/22 |
- |
1 |
12-62654212-C-T |
c.17C>T |
p.A6V |
Missense |
1/22 |
- |
1 |
12-62654215-C-A |
c.20C>A |
p.A7E |
Missense |
1/22 |
- |
2 |
12-62654215-C-T |
c.20C>T |
p.A7V |
Missense |
1/22 |
- |
1 |
12-62654217-G-T |
c.22G>T |
p.D8Y |
Missense |
1/22 |
- |
1 |
12-62654224-A-C |
c.29A>C |
p.D10A |
Missense |
1/22 |
- |
2 |
12-62654232-C-A |
c.37C>A |
p.R13= |
Synonymous |
1/22 |
- |
1 |
12-62654234-G-A |
c.39G>A |
p.R13= |
Synonymous |
1/22 |
- |
1 |
12-62654234-G-C |
c.39G>C |
p.R13= |
Synonymous |
1/22 |
- |
1 |
12-62654234-G-T |
c.39G>T |
p.R13= |
Synonymous |
1/22 |
- |
1 |
12-62654238-G-T |
c.43G>T |
p.D15Y |
Missense |
1/22 |
- |
1 |
12-62654239-A-G |
c.44A>G |
p.D15G |
Missense |
1/22 |
- |
1 |
12-62654242-T-C |
c.47T>C |
p.I16T |
Missense |
1/22 |
- |
1 |
12-62654243-C-G |
c.48C>G |
p.I16M |
Missense |
1/22 |
- |
1 |
12-62654243-C-T |
c.48C>T |
p.I16= |
Synonymous |
1/22 |
- |
2 |
12-62654244-GC-CA |
c.49_50delinsCA |
p.A17Q |
Missense |
1/22 |
- |
1 |
12-62654244-G-T |
c.49G>T |
p.A17S |
Missense |
1/22 |
- |
1 |
12-62654247-A-G |
c.52A>G |
p.T18A |
Missense |
1/22 |
- |
1 |
12-62654253-C-T |
c.58C>T |
p.L20F |
Missense |
1/22 |
- |
1 |
12-62654253-CTC-ATG |
c.58_60delinsATG |
p.L20M |
Missense |
1/22 |
- |
1 |
12-62654263-C-T |
c.68C>T |
p.S23L |
Missense |
1/22 |
- |
2 |
12-62654265-CT-GC |
c.70_71delinsGC |
p.L24A |
Missense |
1/22 |
- |
1 |
12-62654272-A-C |
c.77A>C |
p.K26T |
Missense |
1/22 |
- |
1 |
12-62654272-A-G |
c.77A>G |
p.K26R |
Missense |
1/22 |
- |
1 |
12-62654276-G-A |
c.81G>A |
p.G27= |
Synonymous |
1/22 |
- |
1 |
12-62654276-G-C |
c.81G>C |
p.G27= |
Synonymous |
1/22 |
- |
1 |
12-62654276-G-T |
c.81G>T |
p.G27= |
Synonymous |
1/22 |
- |
1 |
12-62654281-C-T |
c.86C>T |
p.T29I |
Missense |
1/22 |
- |
1 |
12-62663149-G-A |
c.89+8865G>A |
- |
IntronicSNV |
- |
1/21 |
1 |
12-62665833-TA-T |
c.89+11558del |
- |
IntronicDeletion |
- |
1/21 |
1 |
12-62668197-CAACA-C |
c.89+13916_89+13919del |
- |
IntronicDeletion |
- |
1/21 |
1 |
12-62669413-A-C |
c.89+15129A>C |
- |
IntronicSNV |
- |
1/21 |
2 |
12-62669413-A-G |
c.89+15129A>G |
- |
IntronicSNV |
- |
1/21 |
2 |
12-62669413-A-T |
c.89+15129A>T |
- |
IntronicSNV |
- |
1/21 |
2 |
12-62669425-G-A |
c.89+15141G>A |
- |
IntronicSNV |
- |
1/21 |
1 |
12-62687964-CT-GC |
c.94_95delinsGC |
p.L32A |
Missense |
2/22 |
- |
1 |
12-62687969-C-T |
c.99C>T |
p.V33= |
Synonymous |
2/22 |
- |
1 |
12-62687970-G-T |
c.100G>T |
p.D34Y |
Missense |
2/22 |
- |
1 |
12-62687976-C-A |
c.106C>A |
p.R36S |
Missense |
2/22 |
- |
1 |
12-62687976-CGC-TGA |
c.106_108delinsTGA |
p.R36* |
Nonsense |
2/22 |
- |
2 |
12-62687977-GC-AA |
c.107_108delinsAA |
p.R36Q |
Missense |
2/22 |
- |
1 |
12-62687979-T-A |
c.109T>A |
p.W37R |
Missense |
2/22 |
- |
1 |
12-62687979-T-C |
c.109T>C |
p.W37R |
Missense |
2/22 |
- |
1 |
12-62687986-A-G |
c.116A>G |
p.K39R |
Missense |
2/22 |
- |
1 |
12-62687988-CAG-AAC |
c.118_120delinsAAC |
p.Q40N |
Missense |
2/22 |
- |
1 |
12-62687988-CA-GT |
c.118_119delinsGT |
p.Q40V |
Missense |
2/22 |
- |
1 |
12-62687988-CAGTGGAAAAAATATGTTGGCTTTGACAGTTGGGACA-C |
c.120_155del |
p.W41_K52del |
InFrameDeletion |
2/22 |
- |
1 |
12-62687993-G-C |
c.123G>C |
p.W41C |
Missense |
2/22 |
- |
1 |
12-62687993-G-GT |
c.123_124insT |
p.K42* |
Nonsense |
2/22 |
- |
1 |
12-62687993-G-GA |
c.129dup |
p.Y44Ifs*5 |
Frameshift |
2/22 |
- |
1 |
12-62687999-A-C |
c.129A>C |
p.K43N |
Missense |
2/22 |
- |
1 |
12-62687999-A-T |
c.129A>T |
p.K43N |
Missense |
2/22 |
- |
1 |
12-62688001-A-G |
c.131A>G |
p.Y44C |
Missense |
2/22 |
- |
1 |
12-62688001-A-T |
c.131A>T |
p.Y44F |
Missense |
2/22 |
- |
2 |
12-62688003-G-A |
c.133G>A |
p.V45I |
Missense |
2/22 |
- |
2 |
12-62688005-T-A |
c.135T>A |
p.V45= |
Synonymous |
2/22 |
- |
1 |
12-62688005-T-C |
c.135T>C |
p.V45= |
Synonymous |
2/22 |
- |
1 |
12-62688005-T-G |
c.135T>G |
p.V45= |
Synonymous |
2/22 |
- |
1 |
12-62688007-G-A |
c.137G>A |
p.G46D |
Missense |
2/22 |
- |
1 |
12-62688007-G-C |
c.137G>C |
p.G46A |
Missense |
2/22 |
- |
2 |
12-62688008-C-A |
c.138C>A |
p.G46= |
Synonymous |
2/22 |
- |
1 |
12-62688008-C-G |
c.138C>G |
p.G46= |
Synonymous |
2/22 |
- |
1 |
12-62688008-C-T |
c.138C>T |
p.G46= |
Synonymous |
2/22 |
- |
1 |
12-62688009-TT-CG |
c.139_140delinsCG |
p.F47R |
Missense |
2/22 |
- |
1 |
12-62688009-TT-GC |
c.139_140delinsGC |
p.F47A |
Missense |
2/22 |
- |
1 |
12-62688010-T-A |
c.140T>A |
p.F47Y |
Missense |
2/22 |
- |
1 |
12-62688014-C-T |
c.144C>T |
p.D48= |
Synonymous |
2/22 |
- |
1 |
12-62688018-T-A |
c.148T>A |
p.W50R |
Missense |
2/22 |
- |
1 |
12-62688018-T-C |
c.148T>C |
p.W50R |
Missense |
2/22 |
- |
1 |
12-62688018-TG-GC |
c.148_149delinsGC |
p.W50A |
Missense |
2/22 |
- |
1 |
12-62688021-G-A |
c.151G>A |
p.D51N |
Missense |
2/22 |
- |
2 |
12-62688021-G-T |
c.151G>T |
p.D51Y |
Missense |
2/22 |
- |
1 |
12-62688023-C-A |
c.153C>A |
p.D51E |
Missense |
2/22 |
- |
1 |
12-62688023-C-G |
c.153C>G |
p.D51E |
Missense |
2/22 |
- |
1 |
12-62688032-G-C |
c.162G>C |
p.Q54H |
Missense |
2/22 |
- |
4 |
12-62688032-G-T |
c.162G>T |
p.Q54H |
Missense |
2/22 |
- |
5 |
12-62688039-G-A |
c.169G>A |
p.D57N |
Missense |
2/22 |
- |
5 |
12-62688050-G-A |
c.180G>A |
p.V60= |
Synonymous |
2/22 |
- |
1 |
12-62688050-G-C |
c.180G>C |
p.V60= |
Synonymous |
2/22 |
- |
1 |
12-62688050-G-T |
c.180G>T |
p.V60= |
Synonymous |
2/22 |
- |
1 |
12-62688052-A-G |
c.182A>G |
p.Y61C |
Missense |
2/22 |
- |
1 |
12-62688054-C-T |
c.184C>T |
p.P62S |
Missense |
2/22 |
- |
1 |
12-62688065-T-A |
c.195T>A |
p.I65= |
Synonymous |
2/22 |
- |
1 |
12-62688065-T-C |
c.195T>C |
p.I65= |
Synonymous |
2/22 |
- |
1 |
12-62688066-G-T |
c.196G>T |
p.D66Y |
Missense |
2/22 |
- |
2 |
12-62688069-A-G |
c.199A>G |
p.N67D |
Missense |
2/22 |
- |
1 |
12-62688071-C-A |
c.201C>A |
p.N67K |
Missense |
2/22 |
- |
1 |
12-62688071-C-G |
c.201C>G |
p.N67K |
Missense |
2/22 |
- |
1 |
12-62688072-TC-CT |
c.202_203delinsCT |
p.S68L |
Missense |
2/22 |
- |
1 |
12-62688073-C-T |
c.203C>T |
p.S68F |
Missense |
2/22 |
- |
1 |
12-62688075-G-A |
c.205G>A |
p.G69R |
Missense |
2/22 |
- |
1 |
12-62688076-G-A |
c.206G>A |
p.G69E |
Missense |
2/22 |
- |
1 |
12-62688076-G-T |
c.206G>T |
p.G69V |
Missense |
2/22 |
- |
1 |
12-62688081-C-A |
c.211C>A |
p.L71I |
Missense |
2/22 |
- |
2 |
12-62688081-C-G |
c.211C>G |
p.L71V |
Missense |
2/22 |
- |
1 |
12-62688081-CT-AA |
c.211_212delinsAA |
p.L71N |
Missense |
2/22 |
- |
1 |
12-62688081-CT-GC |
c.211_212delinsGC |
p.L71A |
Missense |
2/22 |
- |
1 |
12-62688081-CT-GG |
c.211_212delinsGG |
p.L71G |
Missense |
2/22 |
- |
1 |
12-62692316-G-A |
c.217+4229G>A |
- |
IntronicSNV |
- |
2/21 |
1 |
12-62696477-T-G |
c.218-94T>G |
- |
IntronicSNV |
- |
2/21 |
2 |
12-62696572-T-C |
c.219T>C |
p.D73= |
Synonymous |
3/22 |
- |
1 |
12-62696579-G-C |
c.226G>C |
p.A76P |
Missense |
3/22 |
- |
1 |
12-62696583-A-G |
c.230A>G |
p.Q77R |
Missense |
3/22 |
- |
1 |
12-62696588-C-T |
c.235C>T |
p.L79F |
Missense |
3/22 |
- |
2 |
12-62696589-T-G |
c.236T>G |
p.L79R |
Missense |
3/22 |
- |
3 |
12-62696592-A-C |
c.239A>C |
p.K80T |
Missense |
3/22 |
- |
1 |
12-62696599-C-A |
c.246C>A |
p.H82Q |
Missense |
3/22 |
- |
1 |
12-62696599-C-T |
c.246C>T |
p.H82= |
Synonymous |
3/22 |
- |
12 |
12-62696607-A-T |
c.254A>T |
p.D85V |
Missense |
3/22 |
- |
1 |
12-62696616-GA-G |
c.263del |
p.D88Vfs*19 |
Frameshift |
3/22 |
- |
1 |
12-62696633-A-G |
c.280A>G |
p.T94A |
Missense |
3/22 |
- |
1 |
12-62696639-G-A |
c.286G>A |
p.G96S |
Missense |
3/22 |
- |
2 |
12-62696652-T-G |
c.299T>G |
p.L100R |
Missense |
3/22 |
- |
3 |
12-62696658-G-T |
c.305G>T |
p.S102I |
Missense |
3/22 |
- |
1 |
12-62696663-T-C |
c.310T>C |
p.Y104H |
Missense |
3/22 |
- |
1 |
12-62696670-T-A |
c.317T>A |
p.L106* |
Nonsense |
3/22 |
- |
1 |
12-62696672-A-AT |
c.320dup |
p.M107Ifs*13 |
Frameshift |
3/22 |
- |
1 |
12-62696678-G-A |
c.325G>A |
p.G109S |
Missense |
3/22 |
- |
1 |
12-62696678-G-T |
c.325G>T |
p.G109C |
Missense |
3/22 |
- |
1 |
12-62696686-G-T |
c.333G>T |
p.E111D |
Missense |
3/22 |
- |
1 |
12-62696687-C-T |
c.334C>T |
p.P112S |
Missense |
3/22 |
- |
1 |
12-62696693-G-A |
c.340G>A |
p.A114T |
Missense |
3/22 |
- |
2 |
12-62696697-G-A |
c.344G>A |
p.R115Q |
Missense |
3/22 |
- |
2 |
12-62696700-A-C |
c.347A>C |
p.K116T |
Missense |
3/22 |
- |
1 |
12-62696809-G-T |
c.348+108G>T |
- |
IntronicSNV |
- |
3/21 |
1 |
12-62697203-GT-G |
c.348+509del |
- |
IntronicDeletion |
- |
3/21 |
1 |
12-62698443-G-A |
c.348+1742G>A |
- |
IntronicSNV |
- |
3/21 |
1 |
12-62698458-A-G |
c.348+1757A>G |
- |
IntronicSNV |
- |
3/21 |
1 |
12-62698716-G-A |
c.348+2015G>A |
- |
IntronicSNV |
- |
3/21 |
2 |
12-62705886-G-A |
c.349-2685G>A |
- |
IntronicSNV |
- |
3/21 |
1 |
12-62705960-A-G |
c.349-2611A>G |
- |
IntronicSNV |
- |
3/21 |
2 |
12-62706046-A-T |
c.349-2525A>T |
- |
IntronicSNV |
- |
3/21 |
2 |
12-62706180-A-G |
c.349-2391A>G |
- |
IntronicSNV |
- |
3/21 |
1 |
12-62706333-C-A |
c.349-2238C>A |
- |
IntronicSNV |
- |
3/21 |
1 |
12-62707586-G-A |
c.349-985G>A |
- |
IntronicSNV |
- |
3/21 |
1 |
12-62707586-G-T |
c.349-985G>T |
- |
IntronicSNV |
- |
3/21 |
1 |
12-62708442-G-A |
c.349-129G>A |
- |
IntronicSNV |
- |
3/21 |
3 |
12-62708577-G-A |
c.355G>A |
p.E119K |
Missense |
4/22 |
- |
1 |
12-62708578-A-G |
c.356A>G |
p.E119G |
Missense |
4/22 |
- |
1 |
12-62708582-G-A |
c.360G>A |
p.Q120= |
Synonymous |
4/22 |
- |
1 |
12-62708584-G-C |
c.362G>C |
p.G121A |
Missense |
4/22 |
- |
1 |
12-62708586-AT-GC |
c.364_365delinsGC |
p.M122A |
Missense |
4/22 |
- |
1 |
12-62708587-T-A |
c.365T>A |
p.M122K |
Missense |
4/22 |
- |
1 |
12-62708589-TT-GC |
c.367_368delinsGC |
p.F123A |
Missense |
4/22 |
- |
1 |
12-62708592-G-C |
c.370G>C |
p.V124L |
Missense |
4/22 |
- |
1 |
12-62708592-G-T |
c.370G>T |
p.V124L |
Missense |
4/22 |
- |
2 |
12-62708593-T-C |
c.371T>C |
p.V124A |
Missense |
4/22 |
- |
1 |
12-62708595-AA-GC |
c.373_374delinsGC |
p.K125A |
Missense |
4/22 |
- |
1 |
12-62708595-A-G |
c.373A>G |
p.K125E |
Missense |
4/22 |
- |
1 |
12-62708597-G-T |
c.375G>T |
p.K125N |
Missense |
4/22 |
- |
1 |
12-62708598-C-A |
c.376C>A |
p.H126N |
Missense |
4/22 |
- |
1 |
12-62708598-CA-GC |
c.376_377delinsGC |
p.H126A |
Missense |
4/22 |
- |
1 |
12-62708598-C-T |
c.376C>T |
p.H126Y |
Missense |
4/22 |
- |
1 |
12-62708599-ACTG-A |
c.379_381del |
p.C127del |
InFrameDeletion |
4/22 |
- |
1 |
12-62708601-T-C |
c.379T>C |
p.C127R |
Missense |
4/22 |
- |
1 |
12-62708603-C-T |
c.381C>T |
p.C127= |
Synonymous |
4/22 |
- |
5 |
12-62708609-A-C |
c.387A>C |
p.V129= |
Synonymous |
4/22 |
- |
1 |
12-62708609-A-G |
c.387A>G |
p.V129= |
Synonymous |
4/22 |
- |
1 |
12-62708609-A-T |
c.387A>T |
p.V129= |
Synonymous |
4/22 |
- |
1 |
12-62708610-G-A |
c.388G>A |
p.E130K |
Missense |
4/22 |
- |
1 |
12-62708614-T-A |
c.392T>A |
p.V131E |
Missense |
4/22 |
- |
1 |
12-62708619-C-G |
c.397C>G |
p.L133V |
Missense |
4/22 |
- |
3 |
12-62708621-C-T |
c.399C>T |
p.L133= |
Synonymous |
4/22 |
- |
1 |
12-62708622-A-C |
c.400A>C |
p.T134P |
Missense |
4/22 |
- |
1 |
12-62708623-C-T |
c.401C>T |
p.T134I |
Missense |
4/22 |
- |
4 |
12-62708638-G-A |
c.416G>A |
p.C139Y |
Missense |
4/22 |
- |
1 |
12-62708640-G-A |
c.418G>A |
p.E140K |
Missense |
4/22 |
- |
1 |
12-62708647-G-T |
c.425G>T |
p.G142V |
Missense |
4/22 |
- |
3 |
12-62708651-C-G |
c.429C>G |
p.N143K |
Missense |
4/22 |
- |
1 |
12-62708651-C-T |
c.429C>T |
p.N143= |
Synonymous |
4/22 |
- |
3 |
12-62708652-A-G |
c.430A>G |
p.M144V |
Missense |
4/22 |
- |
1 |
12-62708654-G-A |
c.432G>A |
p.M144I |
Missense |
4/22 |
- |
2 |
12-62708654-G-C |
c.432G>C |
p.M144I |
Missense |
4/22 |
- |
2 |
12-62708654-G-T |
c.432G>T |
p.M144I |
Missense |
4/22 |
- |
4 |
12-62708659-A-C |
c.437A>C |
p.N146T |
Missense |
4/22 |
- |
1 |
12-62708661-G-T |
c.439G>T |
p.V147F |
Missense |
4/22 |
- |
1 |
12-62708662-T-C |
c.440T>C |
p.V147A |
Missense |
4/22 |
- |
1 |
12-62708664-G-C |
c.442G>C |
p.V148L |
Missense |
4/22 |
- |
1 |
12-62708664-G-T |
c.442G>T |
p.V148L |
Missense |
4/22 |
- |
1 |
12-62708670-C-T |
c.448C>T |
p.R150* |
Nonsense |
4/22 |
- |
1 |
12-62708671-G-A |
c.449G>A |
p.R150Q |
Missense |
4/22 |
- |
1 |
12-62708673-A-G |
c.451A>G |
p.R151G |
Missense |
4/22 |
- |
1 |
12-62708673-AGA-CAT |
c.451_453delinsCAT |
p.R151H |
Missense |
4/22 |
- |
1 |
12-62708674-G-T |
c.452G>T |
p.R151I |
Missense |
4/22 |
- |
3 |
12-62708674-G-GA |
c.453dup |
p.F152Ifs*2 |
Frameshift |
4/22 |
- |
1 |
12-62708679-A-T |
c.457A>T |
p.S153C |
Missense |
4/22 |
- |
1 |
12-62708688-G-A |
c.466G>A |
p.D156N |
Missense |
4/22 |
- |
4 |
12-62708690-C-T |
c.468C>T |
p.D156= |
Synonymous |
4/22 |
- |
1 |
12-62715247-A-G |
c.478A>G |
p.T160A |
Missense |
5/22 |
- |
2 |
12-62715258-G-C |
c.489G>C |
p.K163N |
Missense |
5/22 |
- |
2 |
12-62715258-G-T |
c.489G>T |
p.K163N |
Missense |
5/22 |
- |
3 |
12-62715251-TTGAAAAGGAAATAAGAAAAATCTTCAGTATTCCAGA-T |
c.492_527del |
p.I165_E176del |
InFrameDeletion |
5/22 |
- |
2 |
12-62715269-A-G |
c.500A>G |
p.K167R |
Missense |
5/22 |
- |
1 |
12-62715271-A-G |
c.502A>G |
p.I168V |
Missense |
5/22 |
- |
1 |
12-62715272-T-C |
c.503T>C |
p.I168T |
Missense |
5/22 |
- |
1 |
12-62715278-G-A |
c.509G>A |
p.S170N |
Missense |
5/22 |
- |
2 |
12-62715284-C-T |
c.515C>T |
p.P172L |
Missense |
5/22 |
- |
1 |
12-62715292-A-G |
c.523A>G |
p.K175E |
Missense |
5/22 |
- |
1 |
12-62715294-G-T |
c.525G>T |
p.K175N |
Missense |
5/22 |
- |
1 |
12-62715297-G-A |
c.528G>A |
p.E176= |
Synonymous |
5/22 |
- |
1 |
12-62715298-A-G |
c.529A>G |
p.T177A |
Missense |
5/22 |
- |
1 |
12-62715302-G-C |
c.533G>C |
p.R178T |
Missense |
5/22 |
- |
1 |
12-62715304-T-C |
c.535T>C |
p.L179= |
Synonymous |
5/22 |
- |
1 |
12-62715306-G-A |
c.537G>A |
p.L179= |
Synonymous |
5/22 |
- |
1 |
12-62715306-G-C |
c.537G>C |
p.L179F |
Missense |
5/22 |
- |
1 |
12-62715306-G-T |
c.537G>T |
p.L179F |
Missense |
5/22 |
- |
1 |
12-62715311-A-C |
c.542A>C |
p.N181T |
Missense |
5/22 |
- |
1 |
12-62715311-A-G |
c.542A>G |
p.N181S |
Missense |
5/22 |
- |
1 |
12-62715317-A-T |
c.548A>T |
p.Y183F |
Missense |
5/22 |
- |
1 |
12-62715319-A-G |
c.550A>G |
p.M184V |
Missense |
5/22 |
- |
1 |
12-62715320-T-C |
c.551T>C |
p.M184T |
Missense |
5/22 |
- |
1 |
12-62715321-G-A |
c.552G>A |
p.M184I |
Missense |
5/22 |
- |
2 |
12-62715321-G-C |
c.552G>C |
p.M184I |
Missense |
5/22 |
- |
3 |
12-62715321-G-T |
c.552G>T |
p.M184I |
Missense |
5/22 |
- |
2 |
12-62715332-T-G |
c.563T>G |
p.F188C |
Missense |
5/22 |
- |
3 |
12-62715334-G-C |
c.565G>C |
p.E189Q |
Missense |
5/22 |
- |
2 |
12-62715341-T-C |
c.572T>C |
p.L191P |
Missense |
5/22 |
- |
1 |
12-62715341-T-G |
c.572T>G |
p.L191R |
Missense |
5/22 |
- |
1 |
12-62715344-A-C |
c.575A>C |
p.N192T |
Missense |
5/22 |
- |
1 |
12-62715344-A-G |
c.575A>G |
p.N192S |
Missense |
5/22 |
- |
3 |
12-62715345-T-C |
c.576T>C |
p.N192= |
Synonymous |
5/22 |
- |
2 |
12-62715350-C-T |
c.581C>T |
p.P194L |
Missense |
5/22 |
- |
1 |
12-62715352-G-T |
c.583G>T |
p.D195Y |
Missense |
5/22 |
- |
2 |
12-62715353-A-G |
c.584A>G |
p.D195G |
Missense |
5/22 |
- |
1 |
12-62715371-C-T |
c.602C>T |
p.A201V |
Missense |
5/22 |
- |
1 |
12-62715373-G-A |
c.604G>A |
p.G202S |
Missense |
5/22 |
- |
1 |
12-62715374-G-C |
c.605G>C |
p.G202A |
Missense |
5/22 |
- |
1 |
12-62715376-T-C |
c.607T>C |
p.L203= |
Synonymous |
5/22 |
- |
1 |
12-62715381-C-A |
c.612C>A |
p.Y204* |
Nonsense |
5/22 |
- |
1 |
12-62715381-C-G |
c.612C>G |
p.Y204* |
Nonsense |
5/22 |
- |
1 |
12-62715383-A-T |
c.614A>T |
p.Q205L |
Missense |
5/22 |
- |
1 |
12-62715385-G-A |
c.616G>A |
p.G206R |
Missense |
5/22 |
- |
1 |
12-62715385-G-C |
c.616G>C |
p.G206R |
Missense |
5/22 |
- |
1 |
12-62715396-G-A |
c.621+6G>A |
- |
IntronicSNV |
- |
5/21 |
1 |
12-62715412-CTGTAT-C |
c.621+24_621+28del |
- |
IntronicDeletion |
- |
5/21 |
1 |
12-62715414-G-A |
c.621+24G>A |
- |
IntronicSNV |
- |
5/21 |
1 |
12-62715460-C-T |
c.621+70C>T |
- |
IntronicSNV |
- |
5/21 |
1 |
12-62715520-CT-C |
c.621+133del |
- |
IntronicDeletion |
- |
5/21 |
1 |
12-62716953-G-T |
c.621+1563G>T |
- |
IntronicSNV |
- |
5/21 |
1 |
12-62717379-C-A |
c.621+1989C>A |
- |
IntronicSNV |
- |
5/21 |
1 |
12-62717613-G-A |
c.622-2040G>A |
- |
IntronicSNV |
- |
5/21 |
1 |
12-62718692-T-G |
c.622-961T>G |
- |
IntronicSNV |
- |
5/21 |
1 |
12-62719653-G-A |
c.622G>A |
p.V208I |
Missense |
6/22 |
- |
1 |
12-62719662-A-G |
c.631A>G |
p.I211V |
Missense |
6/22 |
- |
1 |
12-62719667-A-G |
c.636A>G |
p.E212= |
Synonymous |
6/22 |
- |
2 |
12-62719670-G-C |
c.639G>C |
p.Q213H |
Missense |
6/22 |
- |
1 |
12-62719670-G-T |
c.639G>T |
p.Q213H |
Missense |
6/22 |
- |
1 |
12-62719673-A-C |
c.642A>C |
p.K214N |
Missense |
6/22 |
- |
1 |
12-62719673-A-T |
c.642A>T |
p.K214N |
Missense |
6/22 |
- |
1 |
12-62719677-G-A |
c.646G>A |
p.E216K |
Missense |
6/22 |
- |
1 |
12-62719678-A-T |
c.647A>T |
p.E216V |
Missense |
6/22 |
- |
1 |
12-62719680-G-C |
c.649G>C |
p.D217H |
Missense |
6/22 |
- |
1 |
12-62719684-G-A |
c.653G>A |
p.G218E |
Missense |
6/22 |
- |
1 |
12-62719686-A-G |
c.655A>G |
p.T219A |
Missense |
6/22 |
- |
3 |
12-62719687-C-T |
c.656C>T |
p.T219I |
Missense |
6/22 |
- |
1 |
12-62719693-C-T |
c.662C>T |
p.P221L |
Missense |
6/22 |
- |
1 |
12-62719695-A-C |
c.664A>C |
p.R222= |
Synonymous |
6/22 |
- |
1 |
12-62719697-G-A |
c.666G>A |
p.R222= |
Synonymous |
6/22 |
- |
2 |
12-62719705-C-T |
c.674C>T |
p.S225F |
Missense |
6/22 |
- |
1 |
12-62719707-A-G |
c.676A>G |
p.T226A |
Missense |
6/22 |
- |
1 |
12-62719709-T-A |
c.678T>A |
p.T226= |
Synonymous |
6/22 |
- |
1 |
12-62719709-T-C |
c.678T>C |
p.T226= |
Synonymous |
6/22 |
- |
1 |
12-62719709-T-G |
c.678T>G |
p.T226= |
Synonymous |
6/22 |
- |
1 |
12-62719710-C-T |
c.679C>T |
p.P227S |
Missense |
6/22 |
- |
3 |
12-62719711-C-A |
c.680C>A |
p.P227H |
Missense |
6/22 |
- |
1 |
12-62719715-G-A |
c.683+1G>A |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62721450-C-A |
c.683+1736C>A |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62721524-A-C |
c.683+1810A>C |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62721728-AATTTACT-A |
c.683+2014_683+2020del |
- |
IntronicDeletion |
- |
6/21 |
1 |
12-62721992-T-C |
c.683+2278T>C |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62722005-G-A |
c.683+2291G>A |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62722194-G-A |
c.683+2480G>A |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62722218-T-C |
c.683+2504T>C |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62722321-A-G |
c.683+2607A>G |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62722320-GAA-G |
c.683+2615_683+2616del |
- |
IntronicDeletion |
- |
6/21 |
1 |
12-62722320-GA-G |
c.683+2616del |
- |
IntronicDeletion |
- |
6/21 |
1 |
12-62728962-G-C |
c.683+9248G>C |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62729191-G-A |
c.683+9477G>A |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62729222-G-C |
c.683+9508G>C |
- |
IntronicSNV |
- |
6/21 |
3 |
12-62729691-C-T |
c.683+9977C>T |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62729782-A-G |
c.683+10068A>G |
- |
IntronicSNV |
- |
6/21 |
2 |
12-62730184-A-C |
c.683+10470A>C |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62730184-A-T |
c.683+10470A>T |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62730305-A-G |
c.683+10591A>G |
- |
IntronicSNV |
- |
6/21 |
1 |
12-62743002-G-C |
c.684G>C |
p.K228N |
Missense |
7/22 |
- |
1 |
12-62743002-G-T |
c.684G>T |
p.K228N |
Missense |
7/22 |
- |
1 |
12-62743003-TC-GA |
c.685_686inv |
p.S229D |
Missense |
7/22 |
- |
1 |
12-62743003-T-G |
c.685T>G |
p.S229A |
Missense |
7/22 |
- |
1 |
12-62743004-C-T |
c.686C>T |
p.S229F |
Missense |
7/22 |
- |
2 |
12-62743005-C-A |
c.687C>A |
p.S229= |
Synonymous |
7/22 |
- |
1 |
12-62743005-C-G |
c.687C>G |
p.S229= |
Synonymous |
7/22 |
- |
1 |
12-62743005-C-T |
c.687C>T |
p.S229= |
Synonymous |
7/22 |
- |
2 |
12-62743017-C-T |
c.699C>T |
p.S233= |
Synonymous |
7/22 |
- |
1 |
12-62743035-A-T |
c.717A>T |
p.P239= |
Synonymous |
7/22 |
- |
1 |
12-62743036-A-T |
c.718A>T |
p.K240* |
Nonsense |
7/22 |
- |
1 |
12-62743039-A-G |
c.721A>G |
p.I241V |
Missense |
7/22 |
- |
1 |
12-62743041-C-G |
c.723C>G |
p.I241M |
Missense |
7/22 |
- |
1 |
12-62743044-T-A |
c.726T>A |
p.S242= |
Synonymous |
7/22 |
- |
1 |
12-62743044-T-C |
c.726T>C |
p.S242= |
Synonymous |
7/22 |
- |
1 |
12-62743044-T-G |
c.726T>G |
p.S242= |
Synonymous |
7/22 |
- |
1 |
12-62743046-C-T |
c.728C>T |
p.P243L |
Missense |
7/22 |
- |
3 |
12-62743051-TC-CT |
c.733_734delinsCT |
p.S245L |
Missense |
7/22 |
- |
1 |
12-62743061-A-G |
c.743A>G |
p.N248S |
Missense |
7/22 |
- |
1 |
12-62743067-A-G |
c.749A>G |
p.Y250C |
Missense |
7/22 |
- |
1 |
12-62743073-A-G |
c.755A>G |
p.N252S |
Missense |
7/22 |
- |
1 |
12-62743077-G-A |
c.759G>A |
p.M253I |
Missense |
7/22 |
- |
1 |
12-62743077-G-C |
c.759G>C |
p.M253I |
Missense |
7/22 |
- |
3 |
12-62743077-G-T |
c.759G>T |
p.M253I |
Missense |
7/22 |
- |
1 |
12-62743079-A-G |
c.761A>G |
p.N254S |
Missense |
7/22 |
- |
1 |
12-62743337-A-G |
c.770+249A>G |
- |
IntronicSNV |
- |
7/21 |
1 |
12-62743348-T-A |
c.770+260T>A |
- |
IntronicSNV |
- |
7/21 |
1 |
12-62748862-A-G |
c.771-250A>G |
- |
IntronicSNV |
- |
7/21 |
1 |
12-62749113-GTG-ATC |
c.772_774delinsATC |
p.V258I |
Missense |
8/22 |
- |
1 |
12-62749122-T-C |
c.781T>C |
p.S261P |
Missense |
8/22 |
- |
2 |
12-62749124-A-G |
c.783A>G |
p.S261= |
Synonymous |
8/22 |
- |
1 |
12-62749124-A-T |
c.783A>T |
p.S261= |
Synonymous |
8/22 |
- |
1 |
12-62749123-C-CA |
c.785dup |
p.N262Kfs*11 |
Frameshift |
8/22 |
- |
1 |
12-62749132-G-A |
c.791G>A |
p.C264Y |
Missense |
8/22 |
- |
2 |
12-62749141-C-T |
c.800C>T |
p.S267L |
Missense |
8/22 |
- |
1 |
12-62749146-A-G |
c.805A>G |
p.T269A |
Missense |
8/22 |
- |
1 |
12-62749146-A-T |
c.805A>T |
p.T269S |
Missense |
8/22 |
- |
1 |
12-62749148-C-T |
c.807C>T |
p.T269= |
Synonymous |
8/22 |
- |
1 |
12-62749153-A-G |
c.812A>G |
p.Y271C |
Missense |
8/22 |
- |
1 |
12-62749154-T-G |
c.813T>G |
p.Y271* |
Nonsense |
8/22 |
- |
1 |
12-62749159-A-G |
c.818A>G |
p.N273S |
Missense |
8/22 |
- |
2 |
12-62749171-C-T |
c.830C>T |
p.S277L |
Missense |
8/22 |
- |
2 |
12-62749173-G-C |
c.832G>C |
p.E278Q |
Missense |
8/22 |
- |
3 |
12-62749171-CGGAACCT-C |
c.835_841del |
p.P279Efs*11 |
Frameshift |
8/22 |
- |
1 |
12-62749176-C-G |
c.835C>G |
p.P279A |
Missense |
8/22 |
- |
1 |
12-62749176-C-T |
c.835C>T |
p.P279S |
Missense |
8/22 |
- |
1 |
12-62749183-G-A |
c.842G>A |
p.R281K |
Missense |
8/22 |
- |
1 |
12-62749183-G-C |
c.842G>C |
p.R281T |
Missense |
8/22 |
- |
2 |
12-62749189-A-G |
c.848A>G |
p.N283S |
Missense |
8/22 |
- |
1 |
12-62749191-G-A |
c.850G>A |
p.E284K |
Missense |
8/22 |
- |
2 |
12-62749193-ACAGC-A |
c.856_859del |
p.P286Afs*5 |
Frameshift |
8/22 |
- |
1 |
12-62749197-C-T |
c.856C>T |
p.P286S |
Missense |
8/22 |
- |
1 |
12-62749201-G-T |
c.860G>T |
p.G287V |
Missense |
8/22 |
- |
3 |
12-62749202-C-A |
c.861C>A |
p.G287= |
Synonymous |
8/22 |
- |
2 |
12-62749202-C-G |
c.861C>G |
p.G287= |
Synonymous |
8/22 |
- |
2 |
12-62749202-C-T |
c.861C>T |
p.G287= |
Synonymous |
8/22 |
- |
2 |
12-62749204-T-C |
c.863T>C |
p.L288P |
Missense |
8/22 |
- |
1 |
12-62749205-C-T |
c.864C>T |
p.L288= |
Synonymous |
8/22 |
- |
1 |
12-62749206-T-A |
c.865T>A |
p.C289S |
Missense |
8/22 |
- |
1 |
12-62749207-G-C |
c.866G>C |
p.C289S |
Missense |
8/22 |
- |
1 |
12-62749209-TGGCC-T |
c.868_871del |
p.G290* |
Frameshift |
8/22 |
- |
1 |
12-62749215-A-G |
c.874A>G |
p.S292G |
Missense |
8/22 |
- |
6 |
12-62749222-T-G |
c.881T>G |
p.L294W |
Missense |
8/22 |
- |
1 |
12-62749225-G-A |
c.884G>A |
p.G295E |
Missense |
8/22 |
- |
4 |
12-62749230-A-G |
c.889A>G |
p.T297A |
Missense |
8/22 |
- |
1 |
12-62749231-C-A |
c.890C>A |
p.T297K |
Missense |
8/22 |
- |
1 |
12-62749231-C-CA |
c.890_891insA |
p.C298Vfs*18 |
Frameshift |
8/22 |
- |
1 |
12-62749231-C-T |
c.890C>T |
p.T297M |
Missense |
8/22 |
- |
1 |
12-62749233-T-A |
c.892T>A |
p.C298S |
Missense |
8/22 |
- |
2 |
12-62749233-TG-GC |
c.892_893delinsGC |
p.C298A |
Missense |
8/22 |
- |
5 |
12-62749234-G-C |
c.893G>C |
p.C298S |
Missense |
8/22 |
- |
2 |
12-62749237-T-A |
c.896T>A |
p.F299Y |
Missense |
8/22 |
- |
1 |
12-62749239-A-C |
c.898A>C |
p.M300L |
Missense |
8/22 |
- |
3 |
12-62749239-A-T |
c.898A>T |
p.M300L |
Missense |
8/22 |
- |
2 |
12-62749246-C-A |
c.905C>A |
p.S302* |
Nonsense |
8/22 |
- |
1 |
12-62749250-T-A |
c.909T>A |
p.A303= |
Synonymous |
8/22 |
- |
1 |
12-62749250-T-C |
c.909T>C |
p.A303= |
Synonymous |
8/22 |
- |
1 |
12-62749250-T-G |
c.909T>G |
p.A303= |
Synonymous |
8/22 |
- |
1 |
12-62752015-G-A |
c.915+2759G>A |
- |
IntronicSNV |
- |
8/21 |
1 |
12-62758974-A-G |
c.915+9718A>G |
- |
IntronicSNV |
- |
8/21 |
1 |
12-62760759-C-T |
c.915+11503C>T |
- |
IntronicSNV |
- |
8/21 |
1 |
12-62775272-G-A |
c.917G>A |
p.C306Y |
Missense |
9/22 |
- |
1 |
12-62775278-G-A |
c.923G>A |
p.S308N |
Missense |
9/22 |
- |
1 |
12-62775286-C-T |
c.931C>T |
p.P311S |
Missense |
9/22 |
- |
2 |
12-62775287-C-T |
c.932C>T |
p.P311L |
Missense |
9/22 |
- |
2 |
12-62775296-CTGAG-C |
c.943_946del |
p.E315Ifs*11 |
Frameshift |
9/22 |
- |
2 |
12-62775306-C-T |
c.951C>T |
p.F317= |
Synonymous |
9/22 |
- |
2 |
12-62775307-C-A |
c.952C>A |
p.L318I |
Missense |
9/22 |
- |
1 |
12-62775312-T-C |
c.957T>C |
p.N319= |
Synonymous |
9/22 |
- |
1 |
12-62775318-G-C |
c.963G>C |
p.K321N |
Missense |
9/22 |
- |
6 |
12-62775318-G-T |
c.963G>T |
p.K321N |
Missense |
9/22 |
- |
4 |
12-62775322-C-T |
c.967C>T |
p.Q323* |
Nonsense |
9/22 |
- |
1 |
12-62775325-G-A |
c.970G>A |
p.E324K |
Missense |
9/22 |
- |
1 |
12-62775328-G-A |
c.973G>A |
p.E325K |
Missense |
9/22 |
- |
1 |
12-62775335-AT-A |
c.984del |
p.F328Lfs*5 |
Frameshift |
9/22 |
- |
1 |
12-62775340-G-T |
c.985G>T |
p.D329Y |
Missense |
9/22 |
- |
1 |
12-62775346-C-T |
c.991C>T |
p.P331S |
Missense |
9/22 |
- |
3 |
12-62775353-G-T |
c.998G>T |
p.G333V |
Missense |
9/22 |
- |
1 |
12-62775358-AG-CA |
c.1003_1004delinsCA |
p.R335Q |
Missense |
9/22 |
- |
1 |
12-62775377-C-A |
c.1022C>A |
p.S341Y |
Missense |
9/22 |
- |
1 |
12-62775380-A-C |
c.1025A>C |
p.Y342S |
Missense |
9/22 |
- |
1 |
12-62775385-G-A |
c.1030G>A |
p.E344K |
Missense |
9/22 |
- |
1 |
12-62775404-G-T |
c.1049G>T |
p.W350L |
Missense |
9/22 |
- |
1 |
12-62775407-C-A |
c.1052C>A |
p.S351Y |
Missense |
9/22 |
- |
1 |
12-62775407-C-T |
c.1052C>T |
p.S351F |
Missense |
9/22 |
- |
1 |
12-62775423-C-T |
c.1068C>T |
p.Y356= |
Synonymous |
9/22 |
- |
1 |
12-62775424-G-A |
c.1069G>A |
p.V357I |
Missense |
9/22 |
- |
1 |
12-62775436-G-A |
c.1081G>A |
p.A361T |
Missense |
9/22 |
- |
1 |
12-62775436-G-T |
c.1081G>T |
p.A361S |
Missense |
9/22 |
- |
1 |
12-62775437-C-T |
c.1082C>T |
p.A361V |
Missense |
9/22 |
- |
1 |
12-62776073-TA-T |
c.1089+636del |
- |
IntronicDeletion |
- |
9/21 |
1 |
12-62776611-C-T |
c.1090-1010C>T |
- |
IntronicSNV |
- |
9/21 |
1 |
12-62777565-G-T |
c.1090-56G>T |
- |
IntronicSNV |
- |
9/21 |
2 |
12-62777622-C-T |
c.1091C>T |
p.T364I |
Missense |
10/22 |
- |
1 |
12-62777633-C-T |
c.1102C>T |
p.R368C |
Missense |
10/22 |
- |
2 |
12-62777634-G-A |
c.1103G>A |
p.R368H |
Missense |
10/22 |
- |
1 |
12-62777636-T-C |
c.1105T>C |
p.F369L |
Missense |
10/22 |
- |
1 |
12-62777638-T-A |
c.1107T>A |
p.F369L |
Missense |
10/22 |
- |
1 |
12-62777638-T-G |
c.1107T>G |
p.F369L |
Missense |
10/22 |
- |
1 |
12-62777646-A-G |
c.1115A>G |
p.Q372R |
Missense |
10/22 |
- |
1 |
12-62777648-T-C |
c.1117T>C |
p.F373L |
Missense |
10/22 |
- |
1 |
12-62777650-C-G |
c.1119C>G |
p.F373L |
Missense |
10/22 |
- |
1 |
12-62777650-C-A |
c.1119C>A |
p.F373L |
Missense |
10/22 |
- |
3 |
12-62777652-C-T |
c.1121C>T |
p.S374F |
Missense |
10/22 |
- |
1 |
12-62777655-G-GGATATCA |
c.1124_1125insGATATCA |
p.Y376Ifs*21 |
Frameshift |
10/22 |
- |
1 |
12-62777660-C-T |
c.1129C>T |
p.Q377* |
Nonsense |
10/22 |
- |
1 |
12-62777662-G-A |
c.1131G>A |
p.Q377= |
Synonymous |
10/22 |
- |
1 |
12-62777666-C-G |
c.1135C>G |
p.Q379E |
Missense |
10/22 |
- |
1 |
12-62777680-A-C |
c.1149A>C |
p.E383D |
Missense |
10/22 |
- |
1 |
12-62777680-A-T |
c.1149A>T |
p.E383D |
Missense |
10/22 |
- |
1 |
12-62777683-G-T |
c.1152G>T |
p.L384= |
Synonymous |
10/22 |
- |
1 |
12-62777688-C-T |
c.1157C>T |
p.A386V |
Missense |
10/22 |
- |
2 |
12-62777692-C-T |
c.1161C>T |
p.F387= |
Synonymous |
10/22 |
- |
2 |
12-62777698-A-G |
c.1167A>G |
p.L389= |
Synonymous |
10/22 |
- |
1 |
12-62777698-A-T |
c.1167A>T |
p.L389F |
Missense |
10/22 |
- |
1 |
12-62777705-TT-CC |
c.1174_1175delinsCC |
p.L392P |
Missense |
10/22 |
- |
1 |
12-62777707-A-C |
c.1176A>C |
p.L392F |
Missense |
10/22 |
- |
2 |
12-62777707-A-T |
c.1176A>T |
p.L392F |
Missense |
10/22 |
- |
1 |
12-62777708-C-T |
c.1177C>T |
p.H393Y |
Missense |
10/22 |
- |
1 |
12-62777711-G-A |
c.1180G>A |
p.E394K |
Missense |
10/22 |
- |
1 |
12-62777713-G-A |
c.1182G>A |
p.E394= |
Synonymous |
10/22 |
- |
2 |
12-62777714-G-A |
c.1183G>A |
p.D395N |
Missense |
10/22 |
- |
1 |
12-62777719-G-C |
c.1188G>C |
p.L396F |
Missense |
10/22 |
- |
3 |
12-62777719-G-T |
c.1188G>T |
p.L396F |
Missense |
10/22 |
- |
2 |
12-62777721-A-G |
c.1190A>G |
p.N397S |
Missense |
10/22 |
- |
1 |
12-62777723-AG-CT |
c.1192_1193inv |
p.R398L |
Missense |
10/22 |
- |
1 |
12-62777729-AG-CA |
c.1198_1199delinsCA |
p.R400Q |
Missense |
10/22 |
- |
2 |
12-62777733-A-G |
c.1202A>G |
p.K401R |
Missense |
10/22 |
- |
1 |
12-62777731-G-GA |
c.1206dup |
p.P403Tfs*14 |
Frameshift |
10/22 |
- |
1 |
12-62777737-A-C |
c.1206A>C |
p.K402N |
Missense |
10/22 |
- |
7 |
12-62777737-A-T |
c.1206A>T |
p.K402N |
Missense |
10/22 |
- |
2 |
12-62777745-T-C |
c.1214T>C |
p.I405T |
Missense |
10/22 |
- |
1 |
12-62777747-C-T |
c.1216C>T |
p.Q406* |
Nonsense |
10/22 |
- |
1 |
12-62777751-TAAA-T |
c.1222_1224del |
p.K408del |
InFrameDeletion |
10/22 |
- |
1 |
12-62777760-C-T |
c.1229C>T |
p.A410V |
Missense |
10/22 |
- |
2 |
12-62777762-G-A |
c.1231G>A |
p.D411N |
Missense |
10/22 |
- |
2 |
12-62777762-G-T |
c.1231G>T |
p.D411Y |
Missense |
10/22 |
- |
2 |
12-62777764-T-A |
c.1233T>A |
p.D411E |
Missense |
10/22 |
- |
1 |
12-62777765-GGA-AGC |
c.1234_1236delinsAGC |
p.G412S |
Missense |
10/22 |
- |
1 |
12-62777768-AGG-CAT |
c.1237_1239delinsCAT |
p.R413H |
Missense |
10/22 |
- |
1 |
12-62777772-C-G |
c.1241C>G |
p.P414R |
Missense |
10/22 |
- |
1 |
12-62777774-G-A |
c.1243G>A |
p.D415N |
Missense |
10/22 |
- |
1 |
12-62777776-T-C |
c.1245T>C |
p.D415= |
Synonymous |
10/22 |
- |
1 |
12-62777777-A-G |
c.1246A>G |
p.K416E |
Missense |
10/22 |
- |
1 |
12-62777797-A-C |
c.1248+18A>C |
- |
IntronicSNV |
- |
10/21 |
1 |
12-62777797-A-G |
c.1248+18A>G |
- |
IntronicSNV |
- |
10/21 |
1 |
12-62777797-A-T |
c.1248+18A>T |
- |
IntronicSNV |
- |
10/21 |
1 |
12-62777861-G-T |
c.1251G>T |
p.V417= |
Synonymous |
11/22 |
- |
1 |
12-62777862-G-A |
c.1252G>A |
p.V418I |
Missense |
11/22 |
- |
2 |
12-62777862-GTT-ATG |
c.1252_1254delinsATG |
p.V418M |
Missense |
11/22 |
- |
1 |
12-62777870-A-C |
c.1260A>C |
p.E420D |
Missense |
11/22 |
- |
1 |
12-62777870-A-T |
c.1260A>T |
p.E420D |
Missense |
11/22 |
- |
1 |
12-62777872-A-G |
c.1262A>G |
p.E421G |
Missense |
11/22 |
- |
1 |
12-62777875-C-T |
c.1265C>T |
p.A422V |
Missense |
11/22 |
- |
1 |
12-62777882-A-G |
c.1272A>G |
p.E424= |
Synonymous |
11/22 |
- |
2 |
12-62777884-A-C |
c.1274A>C |
p.N425T |
Missense |
11/22 |
- |
1 |
12-62777885-C-T |
c.1275C>T |
p.N425= |
Synonymous |
11/22 |
- |
1 |
12-62777894-A-C |
c.1284A>C |
p.K428N |
Missense |
11/22 |
- |
1 |
12-62777894-A-T |
c.1284A>T |
p.K428N |
Missense |
11/22 |
- |
1 |
12-62777895-CGA-TGG |
c.1285_1287delinsTGG |
p.R429W |
Missense |
11/22 |
- |
1 |
12-62777895-C-T |
c.1285C>T |
p.R429* |
Nonsense |
11/22 |
- |
3 |
12-62777896-G-A |
c.1286G>A |
p.R429Q |
Missense |
11/22 |
- |
3 |
12-62777901-G-A |
c.1291G>A |
p.D431N |
Missense |
11/22 |
- |
2 |
12-62777901-G-T |
c.1291G>T |
p.D431Y |
Missense |
11/22 |
- |
1 |
12-62777902-A-T |
c.1292A>T |
p.D431V |
Missense |
11/22 |
- |
1 |
12-62777903-T-A |
c.1293T>A |
p.D431E |
Missense |
11/22 |
- |
1 |
12-62777903-T-G |
c.1293T>G |
p.D431E |
Missense |
11/22 |
- |
1 |
12-62777904-TC-CG |
c.1294_1295delinsCG |
p.S432R |
Missense |
11/22 |
- |
1 |
12-62777905-C-A |
c.1295C>A |
p.S432Y |
Missense |
11/22 |
- |
2 |
12-62777908-T-C |
c.1298T>C |
p.I433T |
Missense |
11/22 |
- |
1 |
12-62777919-A-G |
c.1309A>G |
p.I437V |
Missense |
11/22 |
- |
1 |
12-62777922-T-C |
c.1312T>C |
p.F438L |
Missense |
11/22 |
- |
1 |
12-62777924-T-A |
c.1314T>A |
p.F438L |
Missense |
11/22 |
- |
1 |
12-62777924-T-G |
c.1314T>G |
p.F438L |
Missense |
11/22 |
- |
1 |
12-62777929-G-A |
c.1319G>A |
p.G440D |
Missense |
11/22 |
- |
1 |
12-62777931-C-A |
c.1321C>A |
p.L441I |
Missense |
11/22 |
- |
2 |
12-62777935-T-C |
c.1325T>C |
p.F442S |
Missense |
11/22 |
- |
1 |
12-62777939-A-G |
c.1329A>G |
p.K443= |
Synonymous |
11/22 |
- |
1 |
12-62777941-C-A |
c.1331C>A |
p.S444* |
Nonsense |
11/22 |
- |
1 |
12-62777941-C-G |
c.1331C>G |
p.S444* |
Nonsense |
11/22 |
- |
1 |
12-62777944-C-T |
c.1334C>T |
p.T445I |
Missense |
11/22 |
- |
2 |
12-62777950-T-C |
c.1340T>C |
p.V447A |
Missense |
11/22 |
- |
1 |
12-62777954-T-C |
c.1344T>C |
p.C448= |
Synonymous |
11/22 |
- |
2 |
12-62777956-C-A |
c.1346C>A |
p.P449H |
Missense |
11/22 |
- |
1 |
12-62777961-TG-GC |
c.1351_1352delinsGC |
p.C451A |
Missense |
11/22 |
- |
1 |
12-62777964-G-A |
c.1354G>A |
p.A452T |
Missense |
11/22 |
- |
1 |
12-62777985-G-T |
c.1375G>T |
p.D459Y |
Missense |
11/22 |
- |
2 |
12-62777987-T-A |
c.1377T>A |
p.D459E |
Missense |
11/22 |
- |
1 |
12-62777987-T-G |
c.1377T>G |
p.D459E |
Missense |
11/22 |
- |
1 |
12-62777994-TG-GC |
c.1384_1385delinsGC |
p.C462A |
Missense |
11/22 |
- |
1 |
12-62777996-T-C |
c.1386T>C |
p.C462= |
Synonymous |
11/22 |
- |
1 |
12-62778002-G-C |
c.1392G>C |
p.L464F |
Missense |
11/22 |
- |
2 |
12-62778002-G-T |
c.1392G>T |
p.L464F |
Missense |
11/22 |
- |
2 |
12-62778003-A-G |
c.1393A>G |
p.T465A |
Missense |
11/22 |
- |
1 |
12-62778015-C-G |
c.1405C>G |
p.P469A |
Missense |
11/22 |
- |
4 |
12-62778016-C-T |
c.1406C>T |
p.P469L |
Missense |
11/22 |
- |
1 |
12-62778023-A-G |
c.1413A>G |
p.K471= |
Synonymous |
11/22 |
- |
1 |
12-62778026-A-C |
c.1416A>C |
p.K472N |
Missense |
11/22 |
- |
1 |
12-62778026-A-T |
c.1416A>T |
p.K472N |
Missense |
11/22 |
- |
1 |
12-62778027-AG-A |
c.1417del |
p.E473Nfs*8 |
Frameshift |
11/22 |
- |
1 |
12-62778030-C-T |
c.1420C>T |
p.R474C |
Missense |
11/22 |
- |
1 |
12-62778034-CC-TG |
c.1424_1425delinsTG |
p.T475M |
Missense |
11/22 |
- |
1 |
12-62778036-TT-CA |
c.1426_1427delinsCA |
p.L476Q |
Missense |
11/22 |
- |
2 |
12-62778036-TTG-ATC |
c.1426_1428delinsATC |
p.L476I |
Missense |
11/22 |
- |
1 |
12-62778038-G-GT |
c.1428_1429insT |
p.E477* |
Nonsense |
11/22 |
- |
1 |
12-62778050-A-G |
c.1440A>G |
p.L480= |
Synonymous |
11/22 |
- |
1 |
12-62778054-AG-CA |
c.1444_1445delinsCA |
p.R482Q |
Missense |
11/22 |
- |
1 |
12-62778055-G-C |
c.1445G>C |
p.R482T |
Missense |
11/22 |
- |
1 |
12-62778063-C-A |
c.1453C>A |
p.P485T |
Missense |
11/22 |
- |
1 |
12-62778064-C-T |
c.1454C>T |
p.P485L |
Missense |
11/22 |
- |
1 |
12-62778065-A-C |
c.1455A>C |
p.P485= |
Synonymous |
11/22 |
- |
3 |
12-62778065-A-G |
c.1455A>G |
p.P485= |
Synonymous |
11/22 |
- |
16 |
12-62778065-A-T |
c.1455A>T |
p.P485= |
Synonymous |
11/22 |
- |
3 |
12-62778070-C-T |
c.1460C>T |
p.T487I |
Missense |
11/22 |
- |
2 |
12-62778078-A-C |
c.1468A>C |
p.M490L |
Missense |
11/22 |
- |
1 |
12-62778084-G-A |
c.1473+1G>A |
- |
IntronicSNV |
- |
11/21 |
2 |
12-62778109-T-C |
c.1473+26T>C |
- |
IntronicSNV |
- |
11/21 |
1 |
12-62778109-T-G |
c.1473+26T>G |
- |
IntronicSNV |
- |
11/21 |
1 |
12-62778108-GTTT-G |
c.1473+42_1473+44del |
- |
IntronicDeletion |
- |
11/21 |
1 |
12-62778108-GTT-G |
c.1473+43_1473+44del |
- |
IntronicDeletion |
- |
11/21 |
1 |
12-62778108-GT-G |
c.1473+44del |
- |
IntronicDeletion |
- |
11/21 |
1 |
12-62782467-G-A |
c.1474-744G>A |
- |
IntronicSNV |
- |
11/21 |
1 |
12-62782467-G-C |
c.1474-744G>C |
- |
IntronicSNV |
- |
11/21 |
1 |
12-62783218-T-G |
c.1481T>G |
p.V494G |
Missense |
12/22 |
- |
1 |
12-62783220-G-A |
c.1483G>A |
p.V495I |
Missense |
12/22 |
- |
1 |
12-62783223-G-A |
c.1486G>A |
p.V496I |
Missense |
12/22 |
- |
2 |
12-62783226-C-T |
c.1489C>T |
p.P497S |
Missense |
12/22 |
- |
2 |
12-62783227-C-T |
c.1490C>T |
p.P497L |
Missense |
12/22 |
- |
3 |
12-62783233-T-G |
c.1496T>G |
p.I499S |
Missense |
12/22 |
- |
1 |
12-62783236-G-T |
c.1499G>T |
p.G500V |
Missense |
12/22 |
- |
1 |
12-62783253-T-A |
c.1516T>A |
p.C506S |
Missense |
12/22 |
- |
2 |
12-62783253-TG-GC |
c.1516_1517delinsGC |
p.C506A |
Missense |
12/22 |
- |
1 |
12-62783254-G-C |
c.1517G>C |
p.C506S |
Missense |
12/22 |
- |
3 |
12-62783257-CA-TG |
c.1520_1521inv |
p.T507M |
Missense |
12/22 |
- |
1 |
12-62783260-C-T |
c.1523C>T |
p.A508V |
Missense |
12/22 |
- |
2 |
12-62783261-A-C |
c.1524A>C |
p.A508= |
Synonymous |
12/22 |
- |
1 |
12-62783261-A-G |
c.1524A>G |
p.A508= |
Synonymous |
12/22 |
- |
1 |
12-62783261-A-T |
c.1524A>T |
p.A508= |
Synonymous |
12/22 |
- |
1 |
12-62783265-TC-GG |
c.1528_1529delinsGG |
p.S510G |
Missense |
12/22 |
- |
1 |
12-62783266-C-G |
c.1529C>G |
p.S510C |
Missense |
12/22 |
- |
1 |
12-62783289-G-A |
c.1552G>A |
p.D518N |
Missense |
12/22 |
- |
3 |
12-62783292-A-G |
c.1555A>G |
p.K519E |
Missense |
12/22 |
- |
1 |
12-62783297-A-G |
c.1557+3A>G |
- |
IntronicSNV |
- |
12/21 |
1 |
12-62783387-G-A |
c.1560G>A |
p.M520I |
Missense |
13/22 |
- |
1 |
12-62783397-G-C |
c.1570G>C |
p.D524H |
Missense |
13/22 |
- |
3 |
12-62783402-A-T |
c.1575A>T |
p.I525= |
Synonymous |
13/22 |
- |
1 |
12-62783408-T-G |
c.1581T>G |
p.N527K |
Missense |
13/22 |
- |
1 |
12-62783410-A-G |
c.1583A>G |
p.H528R |
Missense |
13/22 |
- |
2 |
12-62783416-T-G |
c.1589T>G |
p.F530C |
Missense |
13/22 |
- |
1 |
12-62783420-C-T |
c.1593C>T |
p.H531= |
Synonymous |
13/22 |
- |
1 |
12-62783421-A-G |
c.1594A>G |
p.R532G |
Missense |
13/22 |
- |
1 |
12-62783422-G-A |
c.1595G>A |
p.R532K |
Missense |
13/22 |
- |
2 |
12-62783428-T-C |
c.1601T>C |
p.F534S |
Missense |
13/22 |
- |
1 |
12-62783429-C-T |
c.1602C>T |
p.F534= |
Synonymous |
13/22 |
- |
2 |
12-62783430-G-A |
c.1603G>A |
p.A535T |
Missense |
13/22 |
- |
3 |
12-62783433-A-G |
c.1606A>G |
p.M536V |
Missense |
13/22 |
- |
1 |
12-62783435-G-A |
c.1608G>A |
p.M536I |
Missense |
13/22 |
- |
1 |
12-62783435-G-C |
c.1608G>C |
p.M536I |
Missense |
13/22 |
- |
2 |
12-62783435-G-T |
c.1608G>T |
p.M536I |
Missense |
13/22 |
- |
1 |
12-62783438-T-A |
c.1611T>A |
p.D537E |
Missense |
13/22 |
- |
1 |
12-62783439-G-T |
c.1612G>T |
p.E538* |
Nonsense |
13/22 |
- |
2 |
12-62783443-A-C |
c.1616A>C |
p.N539T |
Missense |
13/22 |
- |
1 |
12-62783448-A-C |
c.1621A>C |
p.S541R |
Missense |
13/22 |
- |
1 |
12-62783462-A-G |
c.1635A>G |
p.E545= |
Synonymous |
13/22 |
- |
7 |
12-62783463-C-A |
c.1636C>A |
p.R546= |
Synonymous |
13/22 |
- |
1 |
12-62783465-G-A |
c.1638G>A |
p.R546= |
Synonymous |
13/22 |
- |
1 |
12-62783465-G-C |
c.1638G>C |
p.R546= |
Synonymous |
13/22 |
- |
1 |
12-62783465-G-T |
c.1638G>T |
p.R546= |
Synonymous |
13/22 |
- |
1 |
12-62783464-G-A |
c.1637G>A |
p.R546Q |
Missense |
13/22 |
- |
1 |
12-62783464-G-T |
c.1637G>T |
p.R546L |
Missense |
13/22 |
- |
1 |
12-62783473-T-G |
c.1646T>G |
p.I549S |
Missense |
13/22 |
- |
1 |
12-62783480-G-A |
c.1652+1G>A |
- |
IntronicSNV |
- |
13/21 |
1 |
12-62783481-T-G |
c.1652+2T>G |
- |
IntronicSNV |
- |
13/21 |
1 |
12-62783583-A-C |
c.1659A>C |
p.E553D |
Missense |
14/22 |
- |
1 |
12-62783584-A-C |
c.1660A>C |
p.I554L |
Missense |
14/22 |
- |
1 |
12-62783587-A-G |
c.1663A>G |
p.N555D |
Missense |
14/22 |
- |
2 |
12-62783588-A-G |
c.1664A>G |
p.N555S |
Missense |
14/22 |
- |
1 |
12-62783592-C-A |
c.1668C>A |
p.I556= |
Synonymous |
14/22 |
- |
1 |
12-62783594-A-G |
c.1670A>G |
p.N557S |
Missense |
14/22 |
- |
2 |
12-62783599-A-G |
c.1675A>G |
p.T559A |
Missense |
14/22 |
- |
2 |
12-62783602-G-A |
c.1678G>A |
p.E560K |
Missense |
14/22 |
- |
1 |
12-62783616-C-T |
c.1692C>T |
p.H564= |
Synonymous |
14/22 |
- |
1 |
12-62783620-A-G |
c.1696A>G |
p.I566V |
Missense |
14/22 |
- |
1 |
12-62783632-TG-AC |
c.1708_1709delinsAC |
p.C570T |
Missense |
14/22 |
- |
1 |
12-62783634-C-A |
c.1710C>A |
p.C570* |
Nonsense |
14/22 |
- |
1 |
12-62783634-C-T |
c.1710C>T |
p.C570= |
Synonymous |
14/22 |
- |
1 |
12-62783635-C-A |
c.1711C>A |
p.L571I |
Missense |
14/22 |
- |
1 |
12-62783636-T-G |
c.1712T>G |
p.L571R |
Missense |
14/22 |
- |
1 |
12-62783638-A-T |
c.1714A>T |
p.R572* |
Nonsense |
14/22 |
- |
1 |
12-62783649-C-T |
c.1725C>T |
p.F575= |
Synonymous |
14/22 |
- |
1 |
12-62783650-AG-CC |
c.1726_1727delinsCC |
p.R576P |
Missense |
14/22 |
- |
1 |
12-62783650-A-T |
c.1726A>T |
p.R576* |
Nonsense |
14/22 |
- |
2 |
12-62783651-G-C |
c.1727G>C |
p.R576T |
Missense |
14/22 |
- |
1 |
12-62783653-C-T |
c.1729C>T |
p.H577Y |
Missense |
14/22 |
- |
1 |
12-62783657-C-T |
c.1733C>T |
p.S578L |
Missense |
14/22 |
- |
1 |
12-62783658-G-A |
c.1734G>A |
p.S578= |
Synonymous |
14/22 |
- |
1 |
12-62783658-G-C |
c.1734G>C |
p.S578= |
Synonymous |
14/22 |
- |
1 |
12-62783658-G-T |
c.1734G>T |
p.S578= |
Synonymous |
14/22 |
- |
1 |
12-62783662-T-G |
c.1738T>G |
p.Y580D |
Missense |
14/22 |
- |
1 |
12-62783670-C-G |
c.1746C>G |
p.H582Q |
Missense |
14/22 |
- |
1 |
12-62783670-C-T |
c.1746C>T |
p.H582= |
Synonymous |
14/22 |
- |
1 |
12-62783681-C-T |
c.1757C>T |
p.S586F |
Missense |
14/22 |
- |
1 |
12-62783684-C-A |
c.1760C>A |
p.S587* |
Nonsense |
14/22 |
- |
7 |
12-62783684-C-G |
c.1760C>G |
p.S587* |
Nonsense |
14/22 |
- |
3 |
12-62783692-GGT-TGG |
c.1768_1770delinsTGG |
p.G590W |
Missense |
14/22 |
- |
2 |
12-62783693-G-A |
c.1769G>A |
p.G590D |
Missense |
14/22 |
- |
1 |
12-62783695-C-T |
c.1771C>T |
p.Q591* |
Nonsense |
14/22 |
- |
1 |
12-62783707-A-G |
c.1783A>G |
p.M595V |
Missense |
14/22 |
- |
1 |
12-62783713-G-A |
c.1789G>A |
p.V597I |
Missense |
14/22 |
- |
1 |
12-62783719-C-T |
c.1795C>T |
p.R599* |
Nonsense |
14/22 |
- |
2 |
12-62783722-A-T |
c.1798A>T |
p.N600Y |
Missense |
14/22 |
- |
1 |
12-62783725-A-T |
c.1801A>T |
p.N601Y |
Missense |
14/22 |
- |
1 |
12-62783731-G-C |
c.1807G>C |
p.E603Q |
Missense |
14/22 |
- |
1 |
12-62783750-T-C |
c.1826T>C |
p.L609P |
Missense |
14/22 |
- |
1 |
12-62783751-C-T |
c.1827C>T |
p.L609= |
Synonymous |
14/22 |
- |
1 |
12-62783760-G-C |
c.1836G>C |
p.L612F |
Missense |
14/22 |
- |
1 |
12-62783760-G-T |
c.1836G>T |
p.L612F |
Missense |
14/22 |
- |
1 |
12-62783843-C-T |
c.1844+75C>T |
- |
IntronicSNV |
- |
14/21 |
3 |
12-62784656-A-T |
c.1857A>T |
p.K619N |
Missense |
15/22 |
- |
1 |
12-62784664-C-T |
c.1865C>T |
p.T622I |
Missense |
15/22 |
- |
1 |
12-62784666-G-A |
c.1867G>A |
p.E623K |
Missense |
15/22 |
- |
3 |
12-62784666-G-T |
c.1867G>T |
p.E623* |
Nonsense |
15/22 |
- |
2 |
12-62784670-C-T |
c.1871C>T |
p.T624I |
Missense |
15/22 |
- |
1 |
12-62784677-A-G |
c.1878A>G |
p.E626= |
Synonymous |
15/22 |
- |
1 |
12-62784678-A-G |
c.1879A>G |
p.T627A |
Missense |
15/22 |
- |
1 |
12-62784681-G-A |
c.1882G>A |
p.E628K |
Missense |
15/22 |
- |
1 |
12-62784689-C-A |
c.1890C>A |
p.S630= |
Synonymous |
15/22 |
- |
1 |
12-62784689-C-G |
c.1890C>G |
p.S630= |
Synonymous |
15/22 |
- |
1 |
12-62784689-C-T |
c.1890C>T |
p.S630= |
Synonymous |
15/22 |
- |
1 |
12-62784691-T-C |
c.1892T>C |
p.L631P |
Missense |
15/22 |
- |
1 |
12-62784693-C-T |
c.1894C>T |
p.H632Y |
Missense |
15/22 |
- |
1 |
12-62784697-G-A |
c.1898G>A |
p.C633Y |
Missense |
15/22 |
- |
2 |
12-62784698-C-T |
c.1899C>T |
p.C633= |
Synonymous |
15/22 |
- |
1 |
12-62784700-G-T |
c.1901G>T |
p.C634F |
Missense |
15/22 |
- |
2 |
12-62784705-G-C |
c.1906G>C |
p.D636H |
Missense |
15/22 |
- |
1 |
12-62784708-C-A |
c.1909C>A |
p.Q637K |
Missense |
15/22 |
- |
2 |
12-62784712-A-G |
c.1913A>G |
p.N638S |
Missense |
15/22 |
- |
1 |
12-62784715-T-G |
c.1916T>G |
p.I639S |
Missense |
15/22 |
- |
1 |
12-62784726-G-A |
c.1927G>A |
p.G643S |
Missense |
15/22 |
- |
1 |
12-62784729-C-T |
c.1930C>T |
p.P644S |
Missense |
15/22 |
- |
1 |
12-62784747-G-A |
c.1948G>A |
p.E650K |
Missense |
15/22 |
- |
1 |
12-62784771-C-A |
c.1960+12C>A |
- |
IntronicSNV |
- |
15/21 |
1 |
12-62784963-G-A |
c.1987G>A |
p.D663N |
Missense |
16/22 |
- |
1 |
12-62784970-C-T |
c.1994C>T |
p.S665F |
Missense |
16/22 |
- |
3 |
12-62784975-C-T |
c.1999C>T |
p.Q667* |
Nonsense |
16/22 |
- |
4 |
12-62784990-CC-TT |
c.2014_2015delinsTT |
p.P672F |
Missense |
16/22 |
- |
1 |
12-62784990-C-T |
c.2014C>T |
p.P672S |
Missense |
16/22 |
- |
1 |
12-62784991-C-T |
c.2015C>T |
p.P672L |
Missense |
16/22 |
- |
1 |
12-62785002-GA-G |
c.2030del |
p.N677Tfs*43 |
Frameshift |
16/22 |
- |
1 |
12-62785006-A-C |
c.2030A>C |
p.N677T |
Missense |
16/22 |
- |
1 |
12-62785008-AG-GA |
c.2032_2033delinsGA |
p.S678D |
Missense |
16/22 |
- |
1 |
12-62785008-AG-GC |
c.2032_2033delinsGC |
p.S678A |
Missense |
16/22 |
- |
1 |
12-62785021-A-C |
c.2045A>C |
p.D682A |
Missense |
16/22 |
- |
4 |
12-62785024-C-T |
c.2048C>T |
p.S683L |
Missense |
16/22 |
- |
2 |
12-62785026-G-A |
c.2050G>A |
p.V684I |
Missense |
16/22 |
- |
2 |
12-62785027-T-G |
c.2051T>G |
p.V684G |
Missense |
16/22 |
- |
3 |
12-62785030-G-A |
c.2054G>A |
p.G685E |
Missense |
16/22 |
- |
2 |
12-62785037-T-G |
c.2061T>G |
p.D687E |
Missense |
16/22 |
- |
1 |
12-62785038-A-G |
c.2062A>G |
p.N688D |
Missense |
16/22 |
- |
1 |
12-62785042-A-T |
c.2066A>T |
p.D689V |
Missense |
16/22 |
- |
1 |
12-62785060-G-A |
c.2084G>A |
p.C695Y |
Missense |
16/22 |
- |
1 |
12-62785065-G-A |
c.2089G>A |
p.E697K |
Missense |
16/22 |
- |
4 |
12-62785066-A-T |
c.2090A>T |
p.E697V |
Missense |
16/22 |
- |
1 |
12-62785069-A-T |
c.2093A>T |
p.D698V |
Missense |
16/22 |
- |
1 |
12-62785076-C-T |
c.2100C>T |
p.C700= |
Synonymous |
16/22 |
- |
1 |
12-62785077-A-G |
c.2101A>G |
p.K701E |
Missense |
16/22 |
- |
1 |
12-62785078-A-T |
c.2102A>T |
p.K701I |
Missense |
16/22 |
- |
1 |
12-62785089-A-G |
c.2113A>G |
p.T705A |
Missense |
16/22 |
- |
1 |
12-62785091-G-A |
c.2115G>A |
p.T705= |
Synonymous |
16/22 |
- |
2 |
12-62785091-G-C |
c.2115G>C |
p.T705= |
Synonymous |
16/22 |
- |
2 |
12-62785091-G-T |
c.2115G>T |
p.T705= |
Synonymous |
16/22 |
- |
2 |
12-62785093-G-A |
c.2117G>A |
p.G706E |
Missense |
16/22 |
- |
2 |
12-62785101-A-G |
c.2125A>G |
p.K709E |
Missense |
16/22 |
- |
1 |
12-62785104-C-T |
c.2128C>T |
p.R710* |
Nonsense |
16/22 |
- |
2 |
12-62785125-A-C |
c.2149A>C |
p.N717H |
Missense |
16/22 |
- |
2 |
12-62785134-G-C |
c.2158G>C |
p.G720R |
Missense |
16/22 |
- |
3 |
12-62785157-C-CA |
c.2184dup |
p.D729Rfs*2 |
Frameshift |
16/22 |
- |
1 |
12-62785164-G-T |
c.2188G>T |
p.D730Y |
Missense |
16/22 |
- |
1 |
12-62785168-C-T |
c.2192C>T |
p.T731I |
Missense |
16/22 |
- |
1 |
12-62785172-G-GA |
c.2196_2197insA |
p.H733Tfs*5 |
Frameshift |
16/22 |
- |
1 |
12-62785173-C-G |
c.2197C>G |
p.H733D |
Missense |
16/22 |
- |
1 |
12-62785176-A-G |
c.2200A>G |
p.I734V |
Missense |
16/22 |
- |
2 |
12-62785182-T-C |
c.2206T>C |
p.F736L |
Missense |
16/22 |
- |
1 |
12-62785184-T-A |
c.2208T>A |
p.F736L |
Missense |
16/22 |
- |
1 |
12-62785184-T-G |
c.2208T>G |
p.F736L |
Missense |
16/22 |
- |
1 |
12-62785194-C-T |
c.2218C>T |
p.Q740* |
Nonsense |
16/22 |
- |
2 |
12-62785200-AG-CA |
c.2224_2225delinsCA |
p.R742Q |
Missense |
16/22 |
- |
1 |
12-62785200-A-C |
c.2224A>C |
p.R742= |
Synonymous |
16/22 |
- |
2 |
12-62785202-G-A |
c.2226G>A |
p.R742= |
Synonymous |
16/22 |
- |
2 |
12-62785204-T-C |
c.2228T>C |
p.L743P |
Missense |
16/22 |
- |
1 |
12-62785206-G-A |
c.2230G>A |
p.D744N |
Missense |
16/22 |
- |
2 |
12-62785206-G-C |
c.2230G>C |
p.D744H |
Missense |
16/22 |
- |
1 |
12-62785259-AT-A |
c.2233+60del |
- |
IntronicDeletion |
- |
16/21 |
1 |
12-62785607-C-A |
c.2245C>A |
p.L749I |
Missense |
17/22 |
- |
1 |
12-62785608-T-G |
c.2246T>G |
p.L749R |
Missense |
17/22 |
- |
2 |
12-62785618-T-TA |
c.2256_2257insA |
p.W753Mfs*4 |
Frameshift |
17/22 |
- |
1 |
12-62785625-C-T |
c.2263C>T |
p.P755S |
Missense |
17/22 |
- |
1 |
12-62785626-C-T |
c.2264C>T |
p.P755L |
Missense |
17/22 |
- |
1 |
12-62785633-G-GT |
c.2271_2272insT |
p.K758* |
Nonsense |
17/22 |
- |
1 |
12-62785636-A-AT |
c.2274_2275insT |
p.K759* |
Nonsense |
17/22 |
- |
1 |
12-62785633-G-GA |
c.2278dup |
p.R760Kfs*4 |
Frameshift |
17/22 |
- |
7 |
12-62785642-A-G |
c.2280A>G |
p.R760= |
Synonymous |
17/22 |
- |
1 |
12-62785645-T-A |
c.2283T>A |
p.Y761* |
Nonsense |
17/22 |
- |
1 |
12-62785645-T-G |
c.2283T>G |
p.Y761* |
Nonsense |
17/22 |
- |
1 |
12-62785655-A-G |
c.2293A>G |
p.N765D |
Missense |
17/22 |
- |
1 |
12-62785663-T-A |
c.2301T>A |
p.A767= |
Synonymous |
17/22 |
- |
1 |
12-62785663-T-C |
c.2301T>C |
p.A767= |
Synonymous |
17/22 |
- |
6 |
12-62785663-T-G |
c.2301T>G |
p.A767= |
Synonymous |
17/22 |
- |
1 |
12-62785667-G-A |
c.2304+1G>A |
- |
IntronicSNV |
- |
17/21 |
1 |
12-62785921-T-C |
c.2305-131T>C |
- |
IntronicSNV |
- |
17/21 |
1 |
12-62786052-G-A |
c.2305G>A |
p.D769N |
Missense |
18/22 |
- |
3 |
12-62786054-CTT-C |
c.2309_2310del |
p.F770* |
Frameshift |
18/22 |
- |
1 |
12-62786056-TT-AA |
c.2309_2310inv |
p.F770* |
Nonsense |
18/22 |
- |
2 |
12-62786073-GTG-ATC |
c.2326_2328delinsATC |
p.V776I |
Missense |
18/22 |
- |
1 |
12-62786076-G-A |
c.2329G>A |
p.E777K |
Missense |
18/22 |
- |
1 |
12-62786084-A-G |
c.2337A>G |
p.K779= |
Synonymous |
18/22 |
- |
3 |
12-62786089-C-CT |
c.2343dup |
p.K782* |
Nonsense |
18/22 |
- |
2 |
12-62786093-A-AT |
c.2346_2347insT |
p.K783* |
Nonsense |
18/22 |
- |
1 |
12-62786090-T-TA |
c.2349dup |
p.P784Tfs*10 |
Frameshift |
18/22 |
- |
1 |
12-62786097-C-T |
c.2350C>T |
p.P784S |
Missense |
18/22 |
- |
2 |
12-62786104-T-A |
c.2357T>A |
p.V786E |
Missense |
18/22 |
- |
1 |
12-62786111-A-C |
c.2364A>C |
p.L788F |
Missense |
18/22 |
- |
1 |
12-62786118-T-A |
c.2371T>A |
p.C791S |
Missense |
18/22 |
- |
2 |
12-62786118-T-C |
c.2371T>C |
p.C791R |
Missense |
18/22 |
- |
1 |
12-62786128-T-G |
c.2381T>G |
p.L794R |
Missense |
18/22 |
- |
1 |
12-62786132-T-G |
c.2385T>G |
p.F795L |
Missense |
18/22 |
- |
1 |
12-62786133-A-ATCGGAAGAGCACACGTCTGAACTCCAGT |
c.2386_2387insTCGGAAGAGCACACGTCTGAACTCCAGT |
p.T796Ifs*7 |
Frameshift |
18/22 |
- |
1 |
12-62786136-A-C |
c.2389A>C |
p.T797P |
Missense |
18/22 |
- |
1 |
12-62786142-G-A |
c.2395G>A |
p.E799K |
Missense |
18/22 |
- |
1 |
12-62786150-A-T |
c.2403A>T |
p.L801= |
Synonymous |
18/22 |
- |
1 |
12-62786157-G-C |
c.2410G>C |
p.E804Q |
Missense |
18/22 |
- |
2 |
12-62786164-C-A |
c.2417C>A |
p.P806H |
Missense |
18/22 |
- |
1 |
12-62786168-G-A |
c.2420+1G>A |
- |
IntronicSNV |
- |
18/21 |
1 |
12-62786838-G-A |
c.2426G>A |
p.C809Y |
Missense |
19/22 |
- |
5 |
12-62786840-C-T |
c.2428C>T |
p.P810S |
Missense |
19/22 |
- |
1 |
12-62786841-C-A |
c.2429C>A |
p.P810Q |
Missense |
19/22 |
- |
1 |
12-62786858-C-G |
c.2446C>G |
p.Q816E |
Missense |
19/22 |
- |
1 |
12-62786858-C-T |
c.2446C>T |
p.Q816* |
Nonsense |
19/22 |
- |
1 |
12-62786863-A-C |
c.2451A>C |
p.Q817H |
Missense |
19/22 |
- |
1 |
12-62786868-CA-AC |
c.2456_2457delinsAC |
p.T819N |
Missense |
19/22 |
- |
1 |
12-62786871-A-G |
c.2459A>G |
p.K820R |
Missense |
19/22 |
- |
2 |
12-62786873-A-G |
c.2461A>G |
p.K821E |
Missense |
19/22 |
- |
1 |
12-62786880-A-C |
c.2468A>C |
p.D823A |
Missense |
19/22 |
- |
1 |
12-62786882-T-G |
c.2470T>G |
p.L824V |
Missense |
19/22 |
- |
2 |
12-62786889-C-T |
c.2477C>T |
p.S826F |
Missense |
19/22 |
- |
2 |
12-62786900-G-A |
c.2488G>A |
p.V830I |
Missense |
19/22 |
- |
1 |
12-62786902-A-T |
c.2490A>T |
p.V830= |
Synonymous |
19/22 |
- |
1 |
12-62786905-T-G |
c.2493T>G |
p.L831= |
Synonymous |
19/22 |
- |
1 |
12-62786906-G-A |
c.2494G>A |
p.V832I |
Missense |
19/22 |
- |
1 |
12-62786918-A-C |
c.2506A>C |
p.K836Q |
Missense |
19/22 |
- |
3 |
12-62786922-G-A |
c.2510G>A |
p.R837Q |
Missense |
19/22 |
- |
2 |
12-62786922-GA-AT |
c.2510_2511delinsAT |
p.R837H |
Missense |
19/22 |
- |
1 |
12-62786926-T-G |
c.2514T>G |
p.F838L |
Missense |
19/22 |
- |
1 |
12-62786928-C-T |
c.2516C>T |
p.S839F |
Missense |
19/22 |
- |
1 |
12-62786929-T-G |
c.2517T>G |
p.S839= |
Synonymous |
19/22 |
- |
1 |
12-62786930-T-TA |
c.2519dup |
p.Y840* |
Nonsense |
19/22 |
- |
1 |
12-62786930-TAC-T |
c.2520_2521del |
p.Y840* |
Frameshift |
19/22 |
- |
1 |
12-62786933-A-G |
c.2521A>G |
p.S841G |
Missense |
19/22 |
- |
1 |
12-62786933-AG-CT |
c.2521_2522inv |
p.S841L |
Missense |
19/22 |
- |
1 |
12-62786936-C-T |
c.2524C>T |
p.R842* |
Nonsense |
19/22 |
- |
1 |
12-62786937-G-A |
c.2525G>A |
p.R842Q |
Missense |
19/22 |
- |
3 |
12-62786944-G-A |
c.2532G>A |
p.M844I |
Missense |
19/22 |
- |
1 |
12-62786945-AGA-TGT |
c.2533_2535delinsTGT |
p.R845C |
Missense |
19/22 |
- |
3 |
12-62786948-G-A |
c.2536G>A |
p.D846N |
Missense |
19/22 |
- |
1 |
12-62786956-G-C |
c.2544G>C |
p.L848F |
Missense |
19/22 |
- |
1 |
12-62786960-A-G |
c.2548A>G |
p.T850A |
Missense |
19/22 |
- |
2 |
12-62786969-G-T |
c.2557G>T |
p.D853Y |
Missense |
19/22 |
- |
1 |
12-62786973-T-C |
c.2561T>C |
p.F854S |
Missense |
19/22 |
- |
1 |
12-62786977-T-C |
c.2565T>C |
p.P855= |
Synonymous |
19/22 |
- |
1 |
12-62786980-C-G |
c.2568C>G |
p.I856M |
Missense |
19/22 |
- |
2 |
12-62786982-A-T |
c.2570A>T |
p.N857I |
Missense |
19/22 |
- |
1 |
12-62786984-T-A |
c.2570+2T>A |
- |
IntronicSNV |
- |
19/21 |
1 |
12-62790075-T-G |
c.2571T>G |
p.N857K |
Missense |
20/22 |
- |
3 |
12-62790082-G-A |
c.2578G>A |
p.D860N |
Missense |
20/22 |
- |
1 |
12-62790083-A-G |
c.2579A>G |
p.D860G |
Missense |
20/22 |
- |
2 |
12-62790084-T-G |
c.2580T>G |
p.D860E |
Missense |
20/22 |
- |
1 |
12-62790085-A-G |
c.2581A>G |
p.M861V |
Missense |
20/22 |
- |
5 |
12-62790089-C-T |
c.2585C>T |
p.S862L |
Missense |
20/22 |
- |
5 |
12-62790102-T-C |
c.2598T>C |
p.I866= |
Synonymous |
20/22 |
- |
1 |
12-62790106-C-T |
c.2602C>T |
p.P868S |
Missense |
20/22 |
- |
2 |
12-62790107-C-T |
c.2603C>T |
p.P868L |
Missense |
20/22 |
- |
4 |
12-62790113-C-A |
c.2609C>A |
p.A870E |
Missense |
20/22 |
- |
1 |
12-62790115-G-T |
c.2611G>T |
p.G871C |
Missense |
20/22 |
- |
1 |
12-62790118-C-T |
c.2614C>T |
p.P872S |
Missense |
20/22 |
- |
1 |
12-62790122-G-A |
c.2618G>A |
p.C873Y |
Missense |
20/22 |
- |
1 |
12-62790124-C-T |
c.2620C>T |
p.R874C |
Missense |
20/22 |
- |
3 |
12-62790125-G-A |
c.2621G>A |
p.R874H |
Missense |
20/22 |
- |
2 |
12-62790128-A-G |
c.2624A>G |
p.Y875C |
Missense |
20/22 |
- |
1 |
12-62790131-A-G |
c.2627A>G |
p.N876S |
Missense |
20/22 |
- |
2 |
12-62790131-A-T |
c.2627A>T |
p.N876I |
Missense |
20/22 |
- |
1 |
12-62790133-C-T |
c.2629C>T |
p.L877= |
Synonymous |
20/22 |
- |
2 |
12-62790135-G-A |
c.2631G>A |
p.L877= |
Synonymous |
20/22 |
- |
1 |
12-62790135-G-C |
c.2631G>C |
p.L877= |
Synonymous |
20/22 |
- |
1 |
12-62790135-G-T |
c.2631G>T |
p.L877= |
Synonymous |
20/22 |
- |
1 |
12-62790139-G-A |
c.2635G>A |
p.A879T |
Missense |
20/22 |
- |
1 |
12-62790140-C-T |
c.2636C>T |
p.A879V |
Missense |
20/22 |
- |
2 |
12-62790140-CT-AG |
c.2636_2637inv |
p.A879E |
Missense |
20/22 |
- |
1 |
12-62790146-C-G |
c.2642C>G |
p.S881C |
Missense |
20/22 |
- |
1 |
12-62790146-C-T |
c.2642C>T |
p.S881F |
Missense |
20/22 |
- |
2 |
12-62790150-C-T |
c.2646C>T |
p.N882= |
Synonymous |
20/22 |
- |
1 |
12-62790158-G-C |
c.2654G>C |
p.G885A |
Missense |
20/22 |
- |
4 |
12-62790158-G-T |
c.2654G>T |
p.G885V |
Missense |
20/22 |
- |
4 |
12-62790165-G-A |
c.2661G>A |
p.M887I |
Missense |
20/22 |
- |
1 |
12-62790165-G-C |
c.2661G>C |
p.M887I |
Missense |
20/22 |
- |
1 |
12-62790165-G-T |
c.2661G>T |
p.M887I |
Missense |
20/22 |
- |
1 |
12-62790166-GG-TT |
c.2662_2663delinsTT |
p.G888L |
Missense |
20/22 |
- |
1 |
12-62790167-G-T |
c.2663G>T |
p.G888V |
Missense |
20/22 |
- |
2 |
12-62790172-G-T |
c.2668G>T |
p.G890* |
Nonsense |
20/22 |
- |
1 |
12-62790335-CT-C |
c.2674+167del |
- |
IntronicDeletion |
- |
20/21 |
1 |
12-62793195-T-C |
c.2675-1772T>C |
- |
IntronicSNV |
- |
20/21 |
1 |
12-62794978-G-C |
c.2686G>C |
p.A896P |
Missense |
21/22 |
- |
1 |
12-62794978-TGCAAAAAATAAAGATG-T |
c.2686_2701del |
p.A896Mfs*59 |
Frameshift |
21/22 |
- |
1 |
12-62794981-A-G |
c.2689A>G |
p.K897E |
Missense |
21/22 |
- |
1 |
12-62794989-A-C |
c.2697A>C |
p.K899N |
Missense |
21/22 |
- |
1 |
12-62794989-A-T |
c.2697A>T |
p.K899N |
Missense |
21/22 |
- |
1 |
12-62794993-G-A |
c.2701G>A |
p.D901N |
Missense |
21/22 |
- |
2 |
12-62794997-GA-G |
c.2709del |
p.K903Nfs*57 |
Frameshift |
21/22 |
- |
1 |
12-62795014-G-C |
c.2722G>C |
p.D908H |
Missense |
21/22 |
- |
1 |
12-62795017-G-T |
c.2725G>T |
p.D909Y |
Missense |
21/22 |
- |
4 |
12-62795018-A-G |
c.2726A>G |
p.D909G |
Missense |
21/22 |
- |
1 |
12-62795018-A-T |
c.2726A>T |
p.D909V |
Missense |
21/22 |
- |
1 |
12-62795024-G-A |
c.2732G>A |
p.S911N |
Missense |
21/22 |
- |
1 |
12-62795033-C-T |
c.2741C>T |
p.T914I |
Missense |
21/22 |
- |
2 |
12-62795034-T-A |
c.2742T>A |
p.T914= |
Synonymous |
21/22 |
- |
1 |
12-62795034-T-C |
c.2742T>C |
p.T914= |
Synonymous |
21/22 |
- |
1 |
12-62795034-T-G |
c.2742T>G |
p.T914= |
Synonymous |
21/22 |
- |
1 |
12-62795043-A-C |
c.2751A>C |
p.E917D |
Missense |
21/22 |
- |
2 |
12-62795043-A-T |
c.2751A>T |
p.E917D |
Missense |
21/22 |
- |
2 |
12-62795044-G-A |
c.2752G>A |
p.D918N |
Missense |
21/22 |
- |
1 |
12-62795052-T-A |
c.2760T>A |
p.I920= |
Synonymous |
21/22 |
- |
2 |
12-62795052-T-C |
c.2760T>C |
p.I920= |
Synonymous |
21/22 |
- |
2 |
12-62795064-G-C |
c.2763+9G>C |
- |
IntronicSNV |
- |
21/21 |
1 |
12-62795400-GA-G |
c.2763+353del |
- |
IntronicDeletion |
- |
21/21 |
1 |
12-62797926-G-A |
c.2764-47G>A |
- |
IntronicSNV |
- |
21/21 |
2 |
12-62797926-G-C |
c.2764-47G>C |
- |
IntronicSNV |
- |
21/21 |
2 |
12-62797926-G-T |
c.2764-47G>T |
- |
IntronicSNV |
- |
21/21 |
2 |
12-62797974-C-G |
c.2765C>G |
p.S922C |
Missense |
22/22 |
- |
1 |
12-62797974-C-T |
c.2765C>T |
p.S922F |
Missense |
22/22 |
- |
6 |
12-62797975-C-A |
c.2766C>A |
p.S922= |
Synonymous |
22/22 |
- |
1 |
12-62797975-C-CT |
c.2766_2767insT |
p.K923* |
Nonsense |
22/22 |
- |
1 |
12-62797975-C-G |
c.2766C>G |
p.S922= |
Synonymous |
22/22 |
- |
1 |
12-62797975-C-T |
c.2766C>T |
p.S922= |
Synonymous |
22/22 |
- |
4 |
12-62797979-G-C |
c.2770G>C |
p.A924P |
Missense |
22/22 |
- |
1 |
12-62798002-G-C |
c.2793G>C |
p.Q931H |
Missense |
22/22 |
- |
4 |
12-62798002-G-T |
c.2793G>T |
p.Q931H |
Missense |
22/22 |
- |
2 |
12-62798003-A-G |
c.2794A>G |
p.R932G |
Missense |
22/22 |
- |
1 |
12-62798007-A-G |
c.2798A>G |
p.Q933R |
Missense |
22/22 |
- |
1 |
12-62798009-G-A |
c.2800G>A |
p.D934N |
Missense |
22/22 |
- |
1 |
12-62798016-T-G |
c.2807T>G |
p.F936C |
Missense |
22/22 |
- |
1 |
12-62798025-C-T |
c.2816C>T |
p.T939I |
Missense |
22/22 |
- |
1 |
12-62798027-G-A |
c.2818G>A |
p.G940S |
Missense |
22/22 |
- |
1 |
12-62798029-CT-C |
c.2826del |
p.P943Lfs*17 |
Frameshift |
22/22 |
- |
2 |
12-62798035-T-C |
c.2826T>C |
p.F942= |
Synonymous |
22/22 |
- |
1 |
12-62798036-C-T |
c.2827C>T |
p.P943S |
Missense |
22/22 |
- |
1 |
12-62798035-TC-T |
c.2828del |
p.P943Lfs*17 |
Frameshift |
22/22 |
- |
2 |
12-62798039-C-G |
c.2830C>G |
p.L944V |
Missense |
22/22 |
- |
1 |
12-62798044-C-T |
c.2835C>T |
p.D945= |
Synonymous |
22/22 |
- |
1 |
12-62798045-C-A |
c.2836C>A |
p.R946= |
Synonymous |
22/22 |
- |
1 |
12-62798047-A-C |
c.2838A>C |
p.R946= |
Synonymous |
22/22 |
- |
1 |
12-62798047-A-G |
c.2838A>G |
p.R946= |
Synonymous |
22/22 |
- |
1 |
12-62798047-A-T |
c.2838A>T |
p.R946= |
Synonymous |
22/22 |
- |
1 |
12-62798057-G-T |
c.2848G>T |
p.G950C |
Missense |
22/22 |
- |
3 |
12-62798064-C-T |
c.2855C>T |
p.S952L |
Missense |
22/22 |
- |
1 |
12-62798066-G-C |
c.2857G>C |
p.A953P |
Missense |
22/22 |
- |
1 |
12-62798067-C-T |
c.2858C>T |
p.A953V |
Missense |
22/22 |
- |
1 |
12-62798076-G-A |
c.2867G>A |
p.G956D |
Missense |
22/22 |
- |
2 |
12-62798087-G-A |
c.2878G>A |
p.E960K |
Missense |
22/22 |
- |
1 |
12-62798090-A-G |
c.2881A>G |
p.S961G |
Missense |
22/22 |
- |
2 |
12-62798091-G-T |
c.2882G>T |
p.S961I |
Missense |
22/22 |
- |
1 |
12-62798092-T-C |
c.2883T>C |
p.S961= |
Synonymous |
22/22 |
- |
2 |
12-62798094-A-T |
c.2885A>T |
p.D962V |
Missense |
22/22 |
- |
1 |
12-62798096-G-A |
c.2887G>A |
p.E963K |
Missense |
22/22 |
- |
2 |
12-62798105-A-G |
c.2896A>G |
p.N966D |
Missense |
22/22 |
- |
1 |
12-62798106-A-G |
c.2897A>G |
p.N966S |
Missense |
22/22 |
- |
1 |
12-62798108-G-C |
c.2899G>C |
p.D967H |
Missense |
22/22 |
- |
4 |
12-62798108-G-T |
c.2899G>T |
p.D967Y |
Missense |
22/22 |
- |
1 |
12-62798110-T-G |
c.2901T>G |
p.D967E |
Missense |
22/22 |
- |
1 |
12-62798112-A-G |
c.2903A>G |
p.N968S |
Missense |
22/22 |
- |
1 |
12-62798123-A-C |
c.2914A>C |
p.I972L |
Missense |
22/22 |
- |
1 |
12-62798123-A-T |
c.2914A>T |
p.I972L |
Missense |
22/22 |
- |
1 |
12-62798124-T-G |
c.2915T>G |
p.I972R |
Missense |
22/22 |
- |
1 |
12-62798126-G-A |
c.2917G>A |
p.E973K |
Missense |
22/22 |
- |
1 |
12-62798145-A-G |
c.2936A>G |
p.H979R |
Missense |
22/22 |
- |
1 |
12-62798152-C-A |
c.2943C>A |
p.N981K |
Missense |
22/22 |
- |
1 |
12-62799401-A-G |
c.*1246A>G |
- |
3-UTRSNV |
22/22 |
- |
1 |
12-62800366-C-T |
c.*2211C>T |
- |
3-UTRSNV |
22/22 |
- |
1 |
12-62801413-A-C |
c.*3258A>C |
- |
3-UTRSNV |
22/22 |
- |
1 |
12-62801952-G-C |
c.*3797G>C |
- |
3-UTRSNV |
22/22 |
- |
1 |
12-62802107-C-CT |
c.*3953dup |
- |
3-UTRInsertion |
22/22 |
- |
1 |
12-62802643-C-T |
c.*4488C>T |
- |
3-UTRSNV |
22/22 |
- |
2 |
12-62803653-G-A |
c.*5498G>A |
- |
IntergenicSNV |
22/22 |
- |
1 |
12-62803653-G-T |
c.*5498G>T |
- |
IntergenicSNV |
22/22 |
- |
1 |
12-62808780-T-TATATATCATATATGTAC |
c.*10631_*10632insCATATATGTACATATAT |
- |
UnclassifiedInsertion |
22/22 |
- |
1 |