16-2098641-T-G |
c.25T>G |
p.Ser9Ala |
Missense |
2/42 |
- |
1 |
16-2098642-C-A |
c.26C>A |
p.Ser9* |
Nonsense |
2/42 |
- |
1 |
16-2098653-GAG-TTT |
c.37_39delinsTTT |
p.Glu13Phe |
Missense |
2/42 |
- |
1 |
16-2098678-T-TT |
c.62dup |
p.Thr23Asnfs*12 |
Frameshift |
2/42 |
- |
1 |
16-2098683-A-G |
c.67A>G |
p.Thr23Ala |
Missense |
2/42 |
- |
2 |
16-2098686-CCG-TTT |
c.70_72delinsTTT |
p.Pro24Phe |
Missense |
2/42 |
- |
1 |
16-2098689-AGG-TGT |
c.73_75delinsTGT |
p.Arg25Cys |
Missense |
2/42 |
- |
1 |
16-2098698-CCC-ATG |
c.82_84delinsATG |
p.Pro28Met |
Missense |
2/42 |
- |
1 |
16-2098716-A-G |
c.100A>G |
p.Lys34Glu |
Missense |
2/42 |
- |
2 |
16-2098719-C-T |
c.103C>T |
p.Gln35* |
Nonsense |
2/42 |
- |
1 |
16-2098725-G-GG |
c.109dup |
p.Glu37Glyfs*30 |
Frameshift |
2/42 |
- |
1 |
16-2098732-TC-AG |
c.116_117delinsAG |
p.Ile39Lys |
Missense |
2/42 |
- |
2 |
16-2098737-A-G |
c.121A>G |
p.Thr41Ala |
Missense |
2/42 |
- |
1 |
16-2098749-ACTGA-A |
c.133_136del |
p.Leu45Glufs*3 |
Frameshift |
2/42 |
- |
1 |
16-2098755-G-A |
c.138+1G>A |
- |
IntronicSNV |
- |
2/41 |
2 |
16-2100399-A-G |
c.139-2A>G |
- |
IntronicSNV |
- |
2/41 |
1 |
16-2100400-G-A |
c.139-1G>A |
- |
IntronicSNV |
- |
2/41 |
1 |
16-2100410-A-G |
c.148A>G |
p.Met50Val |
Missense |
3/42 |
- |
1 |
16-2100416-TG-GA |
c.154_155delinsGA |
p.Cys52Asp |
Missense |
3/42 |
- |
1 |
16-2100431-TC-T |
c.169del |
p.Arg57Alafs*4 |
Frameshift |
3/42 |
- |
1 |
16-2100432-G-A |
c.170G>A |
p.Arg57His |
Missense |
3/42 |
- |
2 |
16-2100440-AT-GA |
c.178_179delinsGA |
p.Met60Glu |
Missense |
3/42 |
- |
1 |
16-2100447-G-A |
c.185G>A |
p.Gly62Glu |
Missense |
3/42 |
- |
1 |
16-2100449-C-G |
c.187C>G |
p.Gln63Glu |
Missense |
3/42 |
- |
1 |
16-2100449-C-T |
c.187C>T |
p.Gln63* |
Nonsense |
3/42 |
- |
1 |
16-2100450-A-AA |
c.188dup |
p.Ile64Aspfs*3 |
Frameshift |
3/42 |
- |
1 |
16-2100452-A-G |
c.190A>G |
p.Ile64Val |
Missense |
3/42 |
- |
2 |
16-2100455-TGT-GAG |
c.193_195delinsGAG |
p.Cys65Glu |
Missense |
3/42 |
- |
1 |
16-2100461-G-A |
c.199G>A |
p.Val67Ile |
Missense |
3/42 |
- |
1 |
16-2100461-G-T |
c.199G>T |
p.Val67Phe |
Missense |
3/42 |
- |
1 |
16-2100468-A-G |
c.206A>G |
p.Lys69Arg |
Missense |
3/42 |
- |
1 |
16-2100476-AA-GC |
c.214_215delinsGC |
p.Lys72Ala |
Missense |
3/42 |
- |
1 |
16-2100481-TT-T |
c.219del |
p.Phe73Leufs*33 |
Frameshift |
3/42 |
- |
1 |
16-2100485-G-A |
c.223G>A |
p.Glu75Lys |
Missense |
3/42 |
- |
2 |
16-2100486-A-G |
c.224A>G |
p.Glu75Gly |
Missense |
3/42 |
- |
1 |
16-2100489-T-A |
c.225+2T>A |
- |
IntronicSNV |
- |
3/41 |
1 |
16-2101947-T-C |
c.226-1396T>C |
- |
IntronicSNV |
- |
3/41 |
1 |
16-2102258-TT-T |
c.226-1085del |
- |
IntronicDeletion |
- |
3/41 |
1 |
16-2103331-T-A |
c.226-12T>A |
- |
IntronicSNV |
- |
3/41 |
1 |
16-2103362-G-A |
c.245G>A |
p.Trp82* |
Nonsense |
4/42 |
- |
1 |
16-2103363-G-A |
c.246G>A |
p.Trp82* |
Nonsense |
4/42 |
- |
1 |
16-2103367-G-A |
c.250G>A |
p.Ala84Thr |
Missense |
4/42 |
- |
1 |
16-2103373-GCG-TGT |
c.256_258delinsTGT |
p.Ala86Cys |
Missense |
4/42 |
- |
1 |
16-2103385-C-T |
c.268C>T |
p.Gln90* |
Nonsense |
4/42 |
- |
3 |
16-2103386-A-G |
c.269A>G |
p.Gln90Arg |
Missense |
4/42 |
- |
1 |
16-2103391-G-T |
c.274G>T |
p.Glu92* |
Nonsense |
4/42 |
- |
1 |
16-2103392-A-T |
c.275A>T |
p.Glu92Val |
Missense |
4/42 |
- |
3 |
16-2103394-C-T |
c.277C>T |
p.Arg93Trp |
Missense |
4/42 |
- |
1 |
16-2103406-G-A |
c.289G>A |
p.Ala97Thr |
Missense |
4/42 |
- |
1 |
16-2103409-C-T |
c.292C>T |
p.Arg98Trp |
Missense |
4/42 |
- |
2 |
16-2103424-GC-AA |
c.307_308delinsAA |
p.Ala103Asn |
Missense |
4/42 |
- |
1 |
16-2103430-GCTGAAGGCCATCGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGGGATGGGTGACGTC-G |
c.313_336+35del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
4/42 |
4/41 |
1 |
16-2103433-A-T |
c.316A>T |
p.Lys106* |
Nonsense |
4/42 |
- |
1 |
16-2104300-G-A |
c.340G>A |
p.Glu114Lys |
Missense |
5/42 |
- |
1 |
16-2104304-G-A |
c.344G>A |
p.Arg115His |
Missense |
5/42 |
- |
1 |
16-2104318-A-G |
c.358A>G |
p.Arg120Gly |
Missense |
5/42 |
- |
1 |
16-2104324-CT-GG |
c.364_365delinsGG |
p.Leu122Gly |
Missense |
5/42 |
- |
1 |
16-2104336-G-T |
c.376G>T |
p.Val126Phe |
Missense |
5/42 |
- |
1 |
16-2104340-T-C |
c.380T>C |
p.Ile127Thr |
Missense |
5/42 |
- |
1 |
16-2104342-A-C |
c.382A>C |
p.Lys128Gln |
Missense |
5/42 |
- |
1 |
16-2104350-C-G |
c.390C>G |
p.Tyr130* |
Nonsense |
5/42 |
- |
1 |
16-2104355-C-G |
c.395C>G |
p.Ser132Cys |
Missense |
5/42 |
- |
3 |
16-2104358-A-T |
c.398A>T |
p.Asn133Ile |
Missense |
5/42 |
- |
1 |
16-2104360-G-A |
c.400G>A |
p.Glu134Lys |
Missense |
5/42 |
- |
1 |
16-2104370-A-G |
c.410A>G |
p.His137Arg |
Missense |
5/42 |
- |
1 |
16-2104372-G-T |
c.412G>T |
p.Glu138* |
Nonsense |
5/42 |
- |
1 |
16-2104375-AG-CT |
c.415_416inv |
p.Arg139Leu |
Missense |
5/42 |
- |
1 |
16-2104389-C-A |
c.429C>A |
p.Phe143Leu |
Missense |
5/42 |
- |
3 |
16-2104389-C-G |
c.429C>G |
p.Phe143Leu |
Missense |
5/42 |
- |
3 |
16-2104387-T-C |
c.427T>C |
p.Phe143Leu |
Missense |
5/42 |
- |
3 |
16-2104393-G-T |
c.433G>T |
p.Ala145Ser |
Missense |
5/42 |
- |
1 |
16-2104393-G-A |
c.433G>A |
p.Ala145Thr |
Missense |
5/42 |
- |
2 |
16-2104397-T-G |
c.437T>G |
p.Leu146Arg |
Missense |
5/42 |
- |
1 |
16-2104400-C-A |
c.440C>A |
p.Thr147Lys |
Missense |
5/42 |
- |
1 |
16-2104404-C-G |
c.444C>G |
p.Asp148Glu |
Missense |
5/42 |
- |
1 |
16-2104404-C-A |
c.444C>A |
p.Asp148Glu |
Missense |
5/42 |
- |
1 |
16-2104404-ACA-A |
c.444_445del |
p.Asp148Glufs*14 |
Frameshift |
5/42 |
- |
1 |
16-2104411-A-T |
c.451A>T |
p.Arg151* |
Nonsense |
5/42 |
- |
1 |
16-2104414-C-G |
c.454C>G |
p.His152Asp |
Missense |
5/42 |
- |
2 |
16-2104419-TC-T |
c.459del |
p.Thr154Profs*28 |
Frameshift |
5/42 |
- |
1 |
16-2104438-C-G |
c.478C>G |
p.Leu160Val |
Missense |
5/42 |
- |
1 |
16-2104446-G-T |
c.481+5G>T |
- |
IntronicSNV |
- |
5/41 |
1 |
16-2104446-G-A |
c.481+5G>A |
- |
IntronicSNV |
- |
5/41 |
1 |
16-2105055-A-C |
c.482-348A>C |
- |
IntronicSNV |
- |
5/41 |
6 |
16-2105055-A-G |
c.482-348A>G |
- |
IntronicSNV |
- |
5/41 |
6 |
16-2105289-T-C |
c.482-114T>C |
- |
IntronicSNV |
- |
5/41 |
1 |
16-2105335-C-G |
c.482-68C>G |
- |
IntronicSNV |
- |
5/41 |
1 |
16-2105400-C-T |
c.482-3C>T |
- |
IntronicSNV |
- |
5/41 |
2 |
16-2105403-C-T |
c.482C>T |
p.Ala161Val |
Missense |
6/42 |
- |
1 |
16-2105409-T-C |
c.488T>C |
p.Phe163Ser |
Missense |
6/42 |
- |
1 |
16-2105420-T-A |
c.499T>A |
p.Trp167Arg |
Missense |
6/42 |
- |
1 |
16-2105420-T-C |
c.499T>C |
p.Trp167Arg |
Missense |
6/42 |
- |
1 |
16-2105421-G-T |
c.500G>T |
p.Trp167Leu |
Missense |
6/42 |
- |
1 |
16-2105469-T-G |
c.548T>G |
p.Leu183Trp |
Missense |
6/42 |
- |
1 |
16-2105478-TT-T |
c.557del |
p.Phe186Serfs*16 |
Frameshift |
6/42 |
- |
1 |
16-2105480-A-C |
c.559A>C |
p.Asn187His |
Missense |
6/42 |
- |
1 |
16-2105481-A-T |
c.560A>T |
p.Asn187Ile |
Missense |
6/42 |
- |
1 |
16-2105490-A-AA |
c.569dup |
p.Tyr190* |
Nonsense |
6/42 |
- |
1 |
16-2105502-A-T |
c.581A>T |
p.Tyr194Phe |
Missense |
6/42 |
- |
1 |
16-2105507-G-A |
c.586G>A |
p.Ala196Thr |
Missense |
6/42 |
- |
4 |
16-2105514-T-C |
c.593T>C |
p.Met198Thr |
Missense |
6/42 |
- |
1 |
16-2105523-A-G |
c.599+3A>G |
- |
IntronicSNV |
- |
6/41 |
1 |
16-2106052-C-T |
c.600-145C>T |
- |
IntronicSNV |
- |
6/41 |
1 |
16-2106206-T-A |
c.609T>A |
p.Cys203* |
Nonsense |
7/42 |
- |
1 |
16-2106220-G-A |
c.623G>A |
p.Arg208Gln |
Missense |
7/42 |
- |
1 |
16-2106230-CC-C |
c.633del |
p.Ser212Leufs*4 |
Frameshift |
7/42 |
- |
1 |
16-2106231-T-G |
c.634T>G |
p.Ser212Ala |
Missense |
7/42 |
- |
1 |
16-2106648-T-G |
c.652T>G |
p.Ser218Ala |
Missense |
8/42 |
- |
1 |
16-2106652-T-C |
c.656T>C |
p.Leu219Pro |
Missense |
8/42 |
- |
1 |
16-2106661-T-C |
c.665T>C |
p.Leu222Pro |
Missense |
8/42 |
- |
1 |
16-2106664-A-AA |
c.668dup |
p.Asp223Glufs*12 |
Frameshift |
8/42 |
- |
1 |
16-2106688-CTGCC-C |
c.692_695del |
p.Leu231Argfs*28 |
Frameshift |
8/42 |
- |
1 |
16-2106695-T-TT |
c.699dup |
p.Glu234* |
Nonsense |
8/42 |
- |
2 |
16-2106698-G-GC |
c.702_703insC |
p.Ser235Glnfs*103 |
Frameshift |
8/42 |
- |
1 |
16-2106699-AG-CC |
c.703_704delinsCC |
p.Ser235Pro |
Missense |
8/42 |
- |
1 |
16-2106724-CTCTGTCGC-C |
c.728_735del |
p.Leu243Hisfs*92 |
Frameshift |
8/42 |
- |
1 |
16-2106726-T-C |
c.730T>C |
p.Cys244Arg |
Missense |
8/42 |
- |
3 |
16-2106727-G-T |
c.731G>T |
p.Cys244Phe |
Missense |
8/42 |
- |
1 |
16-2106727-G-A |
c.731G>A |
p.Cys244Tyr |
Missense |
8/42 |
- |
1 |
16-2106732-A-G |
c.736A>G |
p.Thr246Ala |
Missense |
8/42 |
- |
2 |
16-2106755-C-A |
c.759C>A |
p.Cys253* |
Nonsense |
8/42 |
- |
1 |
16-2106759-C-T |
c.763C>T |
p.Pro255Ser |
Missense |
8/42 |
- |
1 |
16-2106770-G-C |
c.774G>C |
p.Lys258Asn |
Missense |
8/42 |
- |
1 |
16-2106771-G-A |
c.774+1G>A |
- |
IntronicSNV |
- |
8/41 |
1 |
16-2107112-C-T |
c.781C>T |
p.Arg261Trp |
Missense |
9/42 |
- |
2 |
16-2107113-G-C |
c.782G>C |
p.Arg261Pro |
Missense |
9/42 |
- |
1 |
16-2107121-C-CC |
c.790dup |
p.Leu264Profs*74 |
Frameshift |
9/42 |
- |
1 |
16-2107121-CCT-C |
c.790_791del |
p.Leu264Trpfs*73 |
Frameshift |
9/42 |
- |
1 |
16-2107122-T-C |
c.791T>C |
p.Leu264Pro |
Missense |
9/42 |
- |
1 |
16-2107146-C-A |
c.815C>A |
p.Ala272Asp |
Missense |
9/42 |
- |
1 |
16-2107157-CAT-C |
c.826_827del |
p.Met276Valfs*61 |
Frameshift |
9/42 |
- |
1 |
16-2107157-CA-C |
c.826del |
p.Met276Cysfs*17 |
Frameshift |
9/42 |
- |
1 |
16-2107164-A-C |
c.833A>C |
p.His278Pro |
Missense |
9/42 |
- |
1 |
16-2107169-A-G |
c.838A>G |
p.Met280Val |
Missense |
9/42 |
- |
1 |
16-2107170-T-C |
c.839T>C |
p.Met280Thr |
Missense |
9/42 |
- |
1 |
16-2107174-G-T |
c.843G>T |
p.Glu281Asp |
Missense |
9/42 |
- |
1 |
16-2107174-G-C |
c.843G>C |
p.Glu281Asp |
Missense |
9/42 |
- |
1 |
16-2107180-G-A |
c.848+1G>A |
- |
IntronicSNV |
- |
9/41 |
1 |
16-2107182-TG-T |
c.848+3del |
- |
IntronicDeletion |
- |
9/41 |
1 |
16-2107460-C-T |
c.848+281C>T |
- |
IntronicSNV |
- |
9/41 |
1 |
16-2108070-C-A |
c.849-678C>A |
- |
IntronicSNV |
- |
9/41 |
1 |
16-2108733-G-A |
c.849-15G>A |
- |
IntronicSNV |
- |
9/41 |
1 |
16-2108747-G-A |
c.849-1G>A |
- |
IntronicSNV |
- |
9/41 |
1 |
16-2108755-A-G |
c.856A>G |
p.Met286Val |
Missense |
10/42 |
- |
7 |
16-2108765-C-T |
c.866C>T |
p.Ala289Val |
Missense |
10/42 |
- |
2 |
16-2108774-T-C |
c.875T>C |
p.Leu292Pro |
Missense |
10/42 |
- |
2 |
16-2108780-G-A |
c.881G>A |
p.Gly294Glu |
Missense |
10/42 |
- |
4 |
16-2108785-G-A |
c.886G>A |
p.Val296Met |
Missense |
10/42 |
- |
1 |
16-2108793-TT-T |
c.894del |
p.Phe298Leufs*65 |
Frameshift |
10/42 |
- |
1 |
16-2108795-T-G |
c.896T>G |
p.Val299Gly |
Missense |
10/42 |
- |
2 |
16-2108795-T-A |
c.896T>A |
p.Val299Glu |
Missense |
10/42 |
- |
1 |
16-2108798-G-T |
c.899G>T |
p.Gly300Val |
Missense |
10/42 |
- |
2 |
16-2108798-G-A |
c.899G>A |
p.Gly300Asp |
Missense |
10/42 |
- |
1 |
16-2108808-TCTGGGGAGCCCACCGGCTCT-T |
c.909_928del |
p.Trp304Phefs*27 |
Frameshift |
10/42 |
- |
1 |
16-2108809-T-C |
c.910T>C |
p.Trp304Arg |
Missense |
10/42 |
- |
1 |
16-2108810-G-A |
c.911G>A |
p.Trp304* |
Nonsense |
10/42 |
- |
1 |
16-2108811-G-A |
c.912G>A |
p.Trp304* |
Nonsense |
10/42 |
- |
1 |
16-2108812-G-T |
c.913G>T |
p.Gly305* |
Nonsense |
10/42 |
- |
1 |
16-2108821-C-T |
c.922C>T |
p.Arg308Trp |
Missense |
10/42 |
- |
2 |
16-2108844-G-GG |
c.945dup |
p.Pro316Alafs*22 |
Frameshift |
10/42 |
- |
1 |
16-2108851-T-G |
c.952T>G |
p.Ser318Ala |
Missense |
10/42 |
- |
3 |
16-2108859-G-C |
c.960G>C |
p.Leu320Phe |
Missense |
10/42 |
- |
1 |
16-2108859-G-T |
c.960G>T |
p.Leu320Phe |
Missense |
10/42 |
- |
1 |
16-2108871-C-A |
c.972C>A |
p.Tyr324* |
Nonsense |
10/42 |
- |
1 |
16-2108871-C-G |
c.972C>G |
p.Tyr324* |
Nonsense |
10/42 |
- |
1 |
16-2108882-G-A |
c.975+8G>A |
- |
IntronicSNV |
- |
10/41 |
1 |
16-2110571-C-G |
c.976-100C>G |
- |
IntronicSNV |
- |
10/41 |
2 |
16-2110571-C-T |
c.976-100C>T |
- |
IntronicSNV |
- |
10/41 |
2 |
16-2110656-G-A |
c.976-15G>A |
- |
IntronicSNV |
- |
10/41 |
4 |
16-2110670-G-A |
c.976-1G>A |
- |
IntronicSNV |
- |
10/41 |
1 |
16-2110677-G-C |
c.982G>C |
p.Ala328Pro |
Missense |
11/42 |
- |
1 |
16-2110685-G-GT |
c.990_991insT |
p.Asn331* |
Nonsense |
11/42 |
- |
1 |
16-2110695-GG-G |
c.1000del |
p.Val334Cysfs*29 |
Frameshift |
11/42 |
- |
1 |
16-2110696-T-G |
c.1001T>G |
p.Val334Gly |
Missense |
11/42 |
- |
1 |
16-2110698-T-G |
c.1003T>G |
p.Ser335Ala |
Missense |
11/42 |
- |
1 |
16-2110703-T-G |
c.1008T>G |
p.Tyr336* |
Nonsense |
11/42 |
- |
1 |
16-2110704-G-A |
c.1009G>A |
p.Glu337Lys |
Missense |
11/42 |
- |
1 |
16-2110714-T-C |
c.1019T>C |
p.Leu340Pro |
Missense |
11/42 |
- |
2 |
16-2110716-T-C |
c.1021T>C |
p.Ser341Pro |
Missense |
11/42 |
- |
1 |
16-2110716-T-G |
c.1021T>G |
p.Ser341Ala |
Missense |
11/42 |
- |
1 |
16-2110717-CC-GG |
c.1022_1023inv |
p.Ser341Trp |
Missense |
11/42 |
- |
1 |
16-2110725-AG-GC |
c.1030_1031delinsGC |
p.Arg344Ala |
Missense |
11/42 |
- |
1 |
16-2110729-T-G |
c.1034T>G |
p.Leu345Arg |
Missense |
11/42 |
- |
1 |
16-2110735-A-G |
c.1040A>G |
p.Lys347Arg |
Missense |
11/42 |
- |
1 |
16-2110753-T-C |
c.1058T>C |
p.Leu353Pro |
Missense |
11/42 |
- |
1 |
16-2110755-C-T |
c.1060C>T |
p.Gln354* |
Nonsense |
11/42 |
- |
1 |
16-2110768-G-A |
c.1073G>A |
p.Trp358* |
Nonsense |
11/42 |
- |
3 |
16-2110769-G-A |
c.1074G>A |
p.Trp358* |
Nonsense |
11/42 |
- |
3 |
16-2110775-T-TT |
c.1080dup |
p.Leu361Serfs*26 |
Frameshift |
11/42 |
- |
1 |
16-2110776-C-G |
c.1081C>G |
p.Leu361Val |
Missense |
11/42 |
- |
2 |
16-2110777-T-C |
c.1082T>C |
p.Leu361Pro |
Missense |
11/42 |
- |
1 |
16-2110780-T-C |
c.1085T>C |
p.Leu362Pro |
Missense |
11/42 |
- |
1 |
16-2110787-C-G |
c.1092C>G |
p.Ile364Met |
Missense |
11/42 |
- |
1 |
16-2110788-CATC-C |
c.1093_1095del |
p.Ile365del |
InFrameDeletion |
11/42 |
- |
2 |
16-2110795-G-C |
c.1100G>C |
p.Arg367Pro |
Missense |
11/42 |
- |
1 |
16-2110795-G-A |
c.1100G>A |
p.Arg367Gln |
Missense |
11/42 |
- |
5 |
16-2110801-T-C |
c.1106T>C |
p.Leu369Pro |
Missense |
11/42 |
- |
1 |
16-2110803-C-T |
c.1108C>T |
p.Gln370* |
Nonsense |
11/42 |
- |
1 |
16-2110805-G-A |
c.1110G>A |
p.Gln370Gln |
Synonymous |
11/42 |
- |
1 |
16-2110812-C-T |
c.1117C>T |
p.Gln373* |
Nonsense |
11/42 |
- |
2 |
16-2110813-A-C |
c.1118A>C |
p.Gln373Pro |
Missense |
11/42 |
- |
2 |
16-2110815-G-A |
c.1119+1G>A |
- |
IntronicSNV |
- |
11/41 |
1 |
16-2110815-G-C |
c.1119+1G>C |
- |
IntronicSNV |
- |
11/41 |
1 |
16-2110816-T-G |
c.1119+2T>G |
- |
IntronicSNV |
- |
11/41 |
1 |
16-2111230-A-G |
c.1119+416A>G |
- |
IntronicSNV |
- |
11/41 |
1 |
16-2111872-A-G |
c.1120A>G |
p.Thr374Ala |
Missense |
12/42 |
- |
1 |
16-2111872-GACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGA-G |
c.1120_1178del |
p.Thr374Alafs*3 |
Unclassified |
12/42 |
- |
1 |
16-2111872-GACCTTGGACAG-G |
c.1120_1130del |
p.Thr374Profs*9 |
SpliceAcceptorDeletion |
12/42 |
- |
1 |
16-2111891-T-C |
c.1139T>C |
p.Leu380Pro |
Missense |
12/42 |
- |
1 |
16-2111902-GT-CC |
c.1150_1151delinsCC |
p.Val384Pro |
Missense |
12/42 |
- |
1 |
16-2111912-T-C |
c.1160T>C |
p.Leu387Pro |
Missense |
12/42 |
- |
1 |
16-2111917-AC-GA |
c.1165_1166delinsGA |
p.Thr389Asp |
Missense |
12/42 |
- |
1 |
16-2111917-A-G |
c.1165A>G |
p.Thr389Ala |
Missense |
12/42 |
- |
1 |
16-2111928-G-A |
c.1176G>A |
p.Glu392Glu |
Synonymous |
12/42 |
- |
1 |
16-2111929-G-T |
c.1177G>T |
p.Glu393* |
Nonsense |
12/42 |
- |
1 |
16-2111941-C-T |
c.1189C>T |
p.Gln397* |
Nonsense |
12/42 |
- |
1 |
16-2111947-G-T |
c.1195G>T |
p.Glu399* |
Nonsense |
12/42 |
- |
1 |
16-2111956-GGG-AGC |
c.1204_1206delinsAGC |
p.Gly402Ser |
Missense |
12/42 |
- |
1 |
16-2111962-C-T |
c.1210C>T |
p.Gln404* |
Nonsense |
12/42 |
- |
1 |
16-2111971-T-G |
c.1219T>G |
p.Tyr407Asp |
Missense |
12/42 |
- |
1 |
16-2111972-TACTTTGAACTGGTGGAGAGAT-T |
c.1220_1240del |
p.Tyr407_Arg413del |
InFrameDeletion |
12/42 |
- |
2 |
16-2111974-T-G |
c.1222T>G |
p.Phe408Val |
Missense |
12/42 |
- |
1 |
16-2111978-GAACTG-G |
c.1226_1230del |
p.Glu409Glyfs*10 |
Frameshift |
12/42 |
- |
1 |
16-2111980-C-CG |
c.1228_1229insG |
p.Leu410Argfs*11 |
Frameshift |
12/42 |
- |
1 |
16-2111981-T-G |
c.1229T>G |
p.Leu410Arg |
Missense |
12/42 |
- |
1 |
16-2111986-GA-TC |
c.1234_1235inv |
p.Glu412Ser |
Missense |
12/42 |
- |
1 |
16-2111987-A-T |
c.1235A>T |
p.Glu412Val |
Missense |
12/42 |
- |
1 |
16-2111989-GAGA-G |
c.1237_1239del |
p.Arg413del |
InFrameDeletion |
12/42 |
- |
1 |
16-2111996-C-T |
c.1244C>T |
p.Ala415Val |
Missense |
12/42 |
- |
1 |
16-2112004-AG-CC |
c.1252_1253delinsCC |
p.Arg418Pro |
Missense |
12/42 |
- |
1 |
16-2112006-G-T |
c.1254G>T |
p.Arg418Ser |
Missense |
12/42 |
- |
1 |
16-2112006-G-C |
c.1254G>C |
p.Arg418Ser |
Missense |
12/42 |
- |
1 |
16-2112007-C-T |
c.1255C>T |
p.Pro419Ser |
Missense |
12/42 |
- |
2 |
16-2112496-A-G |
c.1258-2A>G |
- |
IntronicSNV |
- |
12/41 |
1 |
16-2112496-CA-C |
c.1258-2del |
- |
IntronicDeletion |
- |
12/41 |
1 |
16-2112497-G-C |
c.1258-1G>C |
- |
IntronicSNV |
- |
12/41 |
1 |
16-2112504-TC-GA |
c.1264_1265inv |
p.Ser422Asp |
Missense |
13/42 |
- |
1 |
16-2112504-CT-C |
c.1264del |
p.Ser422Profs*3 |
Frameshift |
13/42 |
- |
1 |
16-2112504-T-G |
c.1264T>G |
p.Ser422Ala |
Missense |
13/42 |
- |
2 |
16-2112505-C-T |
c.1265C>T |
p.Ser422Phe |
Missense |
13/42 |
- |
1 |
16-2112510-C-T |
c.1270C>T |
p.Leu424Leu |
Synonymous |
13/42 |
- |
1 |
16-2112522-T-G |
c.1282T>G |
p.Ser428Ala |
Missense |
13/42 |
- |
1 |
16-2112523-TCCT-T |
c.1283_1285del |
p.Ser428del |
InFrameDeletion |
13/42 |
- |
1 |
16-2112527-T-TT |
c.1287dup |
p.Arg430* |
Nonsense |
13/42 |
- |
1 |
16-2112532-C-T |
c.1292C>T |
p.Ala431Val |
Missense |
13/42 |
- |
4 |
16-2112562-G-A |
c.1322G>A |
p.Trp441* |
Nonsense |
13/42 |
- |
1 |
16-2112563-G-A |
c.1323G>A |
p.Trp441* |
Nonsense |
13/42 |
- |
1 |
16-2112576-C-T |
c.1336C>T |
p.Gln446* |
Nonsense |
13/42 |
- |
1 |
16-2112582-C-T |
c.1342C>T |
p.Leu448Leu |
Synonymous |
13/42 |
- |
1 |
16-2112582-C-G |
c.1342C>G |
p.Leu448Val |
Missense |
13/42 |
- |
1 |
16-2112583-T-G |
c.1343T>G |
p.Leu448Arg |
Missense |
13/42 |
- |
1 |
16-2112588-G-T |
c.1348G>T |
p.Glu450* |
Nonsense |
13/42 |
- |
1 |
16-2112591-AGA-TGT |
c.1351_1353delinsTGT |
p.Arg451Cys |
Missense |
13/42 |
- |
4 |
16-2112601-G-A |
c.1361G>A |
p.Arg454Lys |
Missense |
13/42 |
- |
1 |
16-2112963-C-A |
c.1362-10C>A |
- |
IntronicSNV |
- |
13/41 |
1 |
16-2112983-C-T |
c.1372C>T |
p.Arg458* |
Nonsense |
14/42 |
- |
5 |
16-2112989-G-A |
c.1378G>A |
p.Ala460Thr |
Missense |
14/42 |
- |
3 |
16-2112998-A-G |
c.1387A>G |
p.Ile463Val |
Missense |
14/42 |
- |
1 |
16-2113001-AA-GC |
c.1390_1391delinsGC |
p.Lys464Ala |
Missense |
14/42 |
- |
1 |
16-2113019-T-G |
c.1408T>G |
p.Ser470Ala |
Missense |
14/42 |
- |
1 |
16-2113026-GTG-G |
c.1415_1416del |
p.Val472Alafs*9 |
Frameshift |
14/42 |
- |
1 |
16-2113041-G-A |
c.1430G>A |
p.Arg477Lys |
Missense |
14/42 |
- |
1 |
16-2113044-CAGTTC-C |
c.1433_1437del |
p.Gln478Leufs*2 |
Frameshift |
14/42 |
- |
1 |
16-2113125-A-G |
c.1443+71A>G |
- |
IntronicSNV |
- |
14/41 |
1 |
16-2113464-C-T |
c.1443+410C>T |
- |
IntronicSNV |
- |
14/41 |
1 |
16-2114271-A-G |
c.1444-2A>G |
- |
IntronicSNV |
- |
14/41 |
1 |
16-2114271-A-C |
c.1444-2A>C |
- |
IntronicSNV |
- |
14/41 |
2 |
16-2114272-G-C |
c.1444-1G>C |
- |
IntronicSNV |
- |
14/41 |
1 |
16-2114286-A-T |
c.1457A>T |
p.Asn486Ile |
Missense |
15/42 |
- |
1 |
16-2114288-T-G |
c.1459T>G |
p.Ser487Ala |
Missense |
15/42 |
- |
2 |
16-2114289-CA-GT |
c.1460_1461delinsGT |
p.Ser487Cys |
Missense |
15/42 |
- |
1 |
16-2114290-CAG-C |
c.1461_1462del |
p.Val488Glyfs*12 |
Frameshift |
15/42 |
- |
1 |
16-2114297-A-C |
c.1468A>C |
p.Ile490Leu |
Missense |
15/42 |
- |
1 |
16-2114302-G-A |
c.1473G>A |
p.Ser491Ser |
Synonymous |
15/42 |
- |
1 |
16-2114306-C-G |
c.1477C>G |
p.Leu493Val |
Missense |
15/42 |
- |
1 |
16-2114320-CC-C |
c.1491del |
p.Glu498Argfs*37 |
Frameshift |
15/42 |
- |
1 |
16-2114340-T-A |
c.1511T>A |
p.Val504Asp |
Missense |
15/42 |
- |
1 |
16-2114342-C-T |
c.1513C>T |
p.Arg505* |
Nonsense |
15/42 |
- |
7 |
16-2114343-G-A |
c.1514G>A |
p.Arg505Gln |
Missense |
15/42 |
- |
1 |
16-2114345-A-G |
c.1516A>G |
p.Lys506Glu |
Missense |
15/42 |
- |
1 |
16-2114382-G-C |
c.1553G>C |
p.Gly518Ala |
Missense |
15/42 |
- |
1 |
16-2114391-C-G |
c.1562C>G |
p.Thr521Arg |
Missense |
15/42 |
- |
1 |
16-2114393-CA-AC |
c.1564_1565delinsAC |
p.His522Thr |
Missense |
15/42 |
- |
2 |
16-2114403-A-G |
c.1574A>G |
p.Asn525Ser |
Missense |
15/42 |
- |
3 |
16-2114407-C-T |
c.1578C>T |
p.Ser526Ser |
Synonymous |
15/42 |
- |
2 |
16-2114422-C-T |
c.1593C>T |
p.Ile531Ile |
Synonymous |
15/42 |
- |
1 |
16-2114426-A-C |
c.1597A>C |
p.Lys533Gln |
Missense |
15/42 |
- |
2 |
16-2114426-GAAG-G |
c.1597_1599del |
p.Lys533del |
InFrameDeletion |
15/42 |
- |
1 |
16-2114430-T-C |
c.1599+2T>C |
- |
IntronicSNV |
- |
15/41 |
1 |
16-2114644-T-G |
c.1599+216T>G |
- |
IntronicSNV |
- |
15/41 |
1 |
16-2115519-G-C |
c.1600-1G>C |
- |
IntronicSNV |
- |
15/41 |
1 |
16-2115520-GTG-ATC |
c.1600_1602delinsATC |
p.Val534Ile |
Missense |
16/42 |
- |
1 |
16-2115529-C-T |
c.1609C>T |
p.Arg537Cys |
Missense |
16/42 |
- |
1 |
16-2115538-TC-GA |
c.1618_1619inv |
p.Ser540Asp |
Missense |
16/42 |
- |
1 |
16-2115538-T-G |
c.1618T>G |
p.Ser540Ala |
Missense |
16/42 |
- |
1 |
16-2115556-G-A |
c.1636G>A |
p.Glu546Lys |
Missense |
16/42 |
- |
1 |
16-2115562-A-AA |
c.1642dup |
p.Arg548Lysfs*41 |
Frameshift |
16/42 |
- |
1 |
16-2115587-C-T |
c.1667C>T |
p.Ser556Phe |
Missense |
16/42 |
- |
1 |
16-2115590-T-A |
c.1670T>A |
p.Leu557* |
Nonsense |
16/42 |
- |
1 |
16-2115599-T-G |
c.1679T>G |
p.Val560Gly |
Missense |
16/42 |
- |
1 |
16-2115613-CC-C |
c.1693del |
p.Leu565Trpfs*133 |
Frameshift |
16/42 |
- |
1 |
16-2115819-A-C |
c.1716+183A>C |
- |
IntronicSNV |
- |
16/41 |
5 |
16-2115819-A-G |
c.1716+183A>G |
- |
IntronicSNV |
- |
16/41 |
5 |
16-2119187-T-C |
c.1717-1270T>C |
- |
IntronicSNV |
- |
16/41 |
1 |
16-2119403-C-T |
c.1717-1054C>T |
- |
IntronicSNV |
- |
16/41 |
1 |
16-2119771-G-A |
c.1717-686G>A |
- |
IntronicSNV |
- |
16/41 |
2 |
16-2120402-T-C |
c.1717-55T>C |
- |
IntronicSNV |
- |
16/41 |
2 |
16-2120427-G-A |
c.1717-30G>A |
- |
IntronicSNV |
- |
16/41 |
1 |
16-2120430-G-A |
c.1717-27G>A |
- |
IntronicSNV |
- |
16/41 |
1 |
16-2120434-T-G |
c.1717-23T>G |
- |
IntronicSNV |
- |
16/41 |
1 |
16-2120456-G-C |
c.1717-1G>C |
- |
IntronicSNV |
- |
16/41 |
1 |
16-2120464-T-C |
c.1724T>C |
p.Leu575Pro |
Missense |
17/42 |
- |
2 |
16-2120494-G-A |
c.1754G>A |
p.Arg585His |
Missense |
17/42 |
- |
1 |
16-2120501-T-A |
c.1761T>A |
p.Tyr587* |
Nonsense |
17/42 |
- |
1 |
16-2120501-T-G |
c.1761T>G |
p.Tyr587* |
Nonsense |
17/42 |
- |
1 |
16-2120502-G-A |
c.1762G>A |
p.Glu588Lys |
Missense |
17/42 |
- |
1 |
16-2120509-T-G |
c.1769T>G |
p.Leu590Arg |
Missense |
17/42 |
- |
1 |
16-2120511-G-A |
c.1771G>A |
p.Val591Ile |
Missense |
17/42 |
- |
1 |
16-2120518-A-G |
c.1778A>G |
p.His593Arg |
Missense |
17/42 |
- |
1 |
16-2120530-A-G |
c.1790A>G |
p.His597Arg |
Missense |
17/42 |
- |
1 |
16-2120532-T-C |
c.1792T>C |
p.Tyr598His |
Missense |
17/42 |
- |
3 |
16-2120534-C-G |
c.1794C>G |
p.Tyr598* |
Nonsense |
17/42 |
- |
1 |
16-2120536-A-T |
c.1796A>T |
p.Lys599Met |
Missense |
17/42 |
- |
2 |
16-2120542-AGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGC-A |
c.1802_1839+21del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
17/42 |
17/41 |
1 |
16-2120543-C-G |
c.1803C>G |
p.Ser601Arg |
Missense |
17/42 |
- |
1 |
16-2120548-C-G |
c.1808C>G |
p.Thr603Ser |
Missense |
17/42 |
- |
1 |
16-2120547-A-T |
c.1807A>T |
p.Thr603Ser |
Missense |
17/42 |
- |
1 |
16-2120550-CT-AC |
c.1810_1811delinsAC |
p.Leu604Thr |
Missense |
17/42 |
- |
1 |
16-2120556-A-G |
c.1816A>G |
p.Ile606Val |
Missense |
17/42 |
- |
1 |
16-2120559-G-A |
c.1819G>A |
p.Ala607Thr |
Missense |
17/42 |
- |
2 |
16-2120560-C-A |
c.1820C>A |
p.Ala607Glu |
Missense |
17/42 |
- |
1 |
16-2120562-AGC-GAG |
c.1822_1824delinsGAG |
p.Ser608Glu |
Missense |
17/42 |
- |
1 |
16-2120571-C-T |
c.1831C>T |
p.Arg611Trp |
Missense |
17/42 |
- |
9 |
16-2120572-G-A |
c.1832G>A |
p.Arg611Gln |
Missense |
17/42 |
- |
23 |
16-2120575-T-C |
c.1835T>C |
p.Leu612Pro |
Missense |
17/42 |
- |
1 |
16-2120785-C-T |
c.1839+206C>T |
- |
IntronicSNV |
- |
17/41 |
1 |
16-2121509-A-T |
c.1840-2A>T |
- |
IntronicSNV |
- |
17/41 |
1 |
16-2121512-C-A |
c.1841C>A |
p.Ala614Asp |
Missense |
18/42 |
- |
2 |
16-2121515-T-C |
c.1844T>C |
p.Phe615Ser |
Missense |
18/42 |
- |
1 |
16-2121524-T-C |
c.1853T>C |
p.Leu618Pro |
Missense |
18/42 |
- |
1 |
16-2121535-C-T |
c.1864C>T |
p.Arg622Trp |
Missense |
18/42 |
- |
4 |
16-2121538-G-T |
c.1867G>T |
p.Ala623Ser |
Missense |
18/42 |
- |
1 |
16-2121546-A-AA |
c.1875dup |
p.Leu626Thrfs*31 |
Frameshift |
18/42 |
- |
1 |
16-2121553-C-G |
c.1882C>G |
p.Arg628Gly |
Missense |
18/42 |
- |
1 |
16-2121556-CT-GC |
c.1885_1886delinsGC |
p.Leu629Ala |
Missense |
18/42 |
- |
1 |
16-2121563-T-C |
c.1892T>C |
p.Leu631Pro |
Missense |
18/42 |
- |
1 |
16-2121576-T-A |
c.1905T>A |
p.Asp635Glu |
Missense |
18/42 |
- |
1 |
16-2121576-T-G |
c.1905T>G |
p.Asp635Glu |
Missense |
18/42 |
- |
1 |
16-2121582-C-G |
c.1911C>G |
p.Val637Val |
Synonymous |
18/42 |
- |
1 |
16-2121582-C-T |
c.1911C>T |
p.Val637Val |
Synonymous |
18/42 |
- |
1 |
16-2121582-C-A |
c.1911C>A |
p.Val637Val |
Synonymous |
18/42 |
- |
1 |
16-2121583-G-A |
c.1912G>A |
p.Val638Met |
Missense |
18/42 |
- |
2 |
16-2121586-C-T |
c.1915C>T |
p.Arg639Trp |
Missense |
18/42 |
- |
1 |
16-2121601-T-G |
c.1930T>G |
p.Cys644Gly |
Missense |
18/42 |
- |
1 |
16-2121610-G-A |
c.1939G>A |
p.Asp647Asn |
Missense |
18/42 |
- |
3 |
16-2121615-C-A |
c.1944C>A |
p.Tyr648* |
Nonsense |
18/42 |
- |
1 |
16-2121615-C-G |
c.1944C>G |
p.Tyr648* |
Nonsense |
18/42 |
- |
1 |
16-2121814-C-CA |
c.1976_1977insA |
p.Ser660Glnfs*43 |
Frameshift |
19/42 |
- |
1 |
16-2121819-G-A |
c.1981G>A |
p.Gly661Ser |
Missense |
19/42 |
- |
1 |
16-2121823-C-T |
c.1985C>T |
p.Pro662Leu |
Missense |
19/42 |
- |
1 |
16-2121828-T-G |
c.1990T>G |
p.Ser664Ala |
Missense |
19/42 |
- |
1 |
16-2121844-C-T |
c.2006C>T |
p.Pro669Leu |
Missense |
19/42 |
- |
1 |
16-2121846-C-T |
c.2008C>T |
p.Pro670Ser |
Missense |
19/42 |
- |
1 |
16-2121849-G-T |
c.2011G>T |
p.Gly671Cys |
Missense |
19/42 |
- |
1 |
16-2121870-G-A |
c.2032G>A |
p.Ala678Thr |
Missense |
19/42 |
- |
5 |
16-2121872-C-T |
c.2034C>T |
p.Ala678Ala |
Synonymous |
19/42 |
- |
1 |
16-2121888-G-A |
c.2050G>A |
p.Val684Met |
Missense |
19/42 |
- |
1 |
16-2121909-CC-C |
c.2071del |
p.Arg691Alafs*7 |
Frameshift |
19/42 |
- |
1 |
16-2121921-C-T |
c.2083C>T |
p.Gln695* |
Nonsense |
19/42 |
- |
2 |
16-2121924-T-C |
c.2086T>C |
p.Cys696Arg |
Missense |
19/42 |
- |
1 |
16-2121925-G-A |
c.2087G>A |
p.Cys696Tyr |
Missense |
19/42 |
- |
2 |
16-2121930-A-T |
c.2092A>T |
p.Lys698* |
Nonsense |
19/42 |
- |
4 |
16-2122156-AGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCC-A |
c.2098-86_2098-28del |
- |
Unclassified |
- |
19/41 |
1 |
16-2122241-G-A |
c.2098-1G>A |
- |
IntronicSNV |
- |
19/41 |
3 |
16-2122242-G-C |
c.2098G>C |
p.Glu700Gln |
Missense |
20/42 |
- |
1 |
16-2122243-A-G |
c.2099A>G |
p.Glu700Gly |
Missense |
20/42 |
- |
1 |
16-2122247-T-G |
c.2103T>G |
p.Ser701Ser |
Synonymous |
20/42 |
- |
1 |
16-2122247-T-A |
c.2103T>A |
p.Ser701Ser |
Synonymous |
20/42 |
- |
1 |
16-2122247-T-C |
c.2103T>C |
p.Ser701Ser |
Synonymous |
20/42 |
- |
1 |
16-2122253-G-A |
c.2109G>A |
p.Trp703* |
Nonsense |
20/42 |
- |
1 |
16-2122252-G-A |
c.2108G>A |
p.Trp703* |
Nonsense |
20/42 |
- |
1 |
16-2122269-G-T |
c.2125G>T |
p.Val709Phe |
Missense |
20/42 |
- |
1 |
16-2122282-T-C |
c.2138T>C |
p.Leu713Pro |
Missense |
20/42 |
- |
1 |
16-2122284-C-T |
c.2140C>T |
p.Pro714Ser |
Missense |
20/42 |
- |
1 |
16-2122291-C-T |
c.2147C>T |
p.Ser716Phe |
Missense |
20/42 |
- |
1 |
16-2122292-C-T |
c.2148C>T |
p.Ser716Ser |
Synonymous |
20/42 |
- |
1 |
16-2122294-T-C |
c.2150T>C |
p.Leu717Pro |
Missense |
20/42 |
- |
1 |
16-2122296-C-T |
c.2152C>T |
p.Arg718Cys |
Missense |
20/42 |
- |
1 |
16-2122299-T-C |
c.2155T>C |
p.Tyr719His |
Missense |
20/42 |
- |
2 |
16-2122300-A-T |
c.2156A>T |
p.Tyr719Phe |
Missense |
20/42 |
- |
1 |
16-2122311-A-G |
c.2167A>G |
p.Ile723Val |
Missense |
20/42 |
- |
1 |
16-2122311-CAT-C |
c.2167_2168del |
p.Ile723Leufs*38 |
Frameshift |
20/42 |
- |
1 |
16-2122316-T-TT |
c.2172dup |
p.Thr725Tyrfs*37 |
Frameshift |
20/42 |
- |
1 |
16-2122320-TT-T |
c.2176del |
p.Ser726Profs*45 |
Frameshift |
20/42 |
- |
1 |
16-2122327-G-T |
c.2183G>T |
p.Cys728Phe |
Missense |
20/42 |
- |
1 |
16-2122329-AG-GC |
c.2185_2186delinsGC |
p.Ser729Ala |
Missense |
20/42 |
- |
1 |
16-2122338-C-T |
c.2194C>T |
p.Gln732* |
Nonsense |
20/42 |
- |
1 |
16-2122341-C-G |
c.2197C>G |
p.Leu733Val |
Missense |
20/42 |
- |
2 |
16-2122354-T-C |
c.2210T>C |
p.Leu737Pro |
Missense |
20/42 |
- |
2 |
16-2122366-GTACCATGG-G |
c.2220+2_2220+9del |
- |
IntronicDeletion |
- |
20/41 |
1 |
16-2122724-C-T |
c.2221-126C>T |
- |
IntronicSNV |
- |
20/41 |
1 |
16-2122849-G-C |
c.2221-1G>C |
- |
IntronicSNV |
- |
20/41 |
1 |
16-2122864-AGACACTGGAGCGGCT-A |
c.2235_2249del |
p.Lys745_Leu750delinsAsn |
MultiAAMissense |
21/42 |
- |
1 |
16-2122865-GACACTGGAGCGGCTC-G |
c.2236_2250del |
p.Thr746_Leu750del |
InFrameDeletion |
21/42 |
- |
1 |
16-2122880-C-T |
c.2251C>T |
p.Arg751* |
Nonsense |
21/42 |
- |
10 |
16-2122881-G-A |
c.2252G>A |
p.Arg751Gln |
Missense |
21/42 |
- |
1 |
16-2122914-T-A |
c.2285T>A |
p.Leu762* |
Nonsense |
21/42 |
- |
1 |
16-2122924-CC-C |
c.2295del |
p.Val766Trpfs*5 |
Frameshift |
21/42 |
- |
1 |
16-2122935-T-A |
c.2306T>A |
p.Val769Glu |
Missense |
21/42 |
- |
1 |
16-2122938-CTGACAGC-C |
c.2309_2315del |
p.Leu770Hisfs*2 |
Frameshift |
21/42 |
- |
1 |
16-2122941-C-G |
c.2312C>G |
p.Thr771Arg |
Missense |
21/42 |
- |
1 |
16-2122943-G-A |
c.2314G>A |
p.Ala772Thr |
Missense |
21/42 |
- |
1 |
16-2122949-AA-A |
c.2320del |
p.Ile774Serfs*55 |
Frameshift |
21/42 |
- |
1 |
16-2122955-T-G |
c.2326T>G |
p.Tyr776Asp |
Missense |
21/42 |
- |
1 |
16-2122982-C-T |
c.2353C>T |
p.Gln785* |
Nonsense |
21/42 |
- |
1 |
16-2122985-G-T |
c.2355+1G>T |
- |
IntronicSNV |
- |
21/41 |
1 |
16-2122986-GTAGG-G |
c.2355+2_2355+5del |
- |
SpliceDonorDeletion |
- |
21/41 |
1 |
16-2124201-GCGCGAGA-G |
c.2356_2362del |
p.Arg786Trpfs*41 |
SpliceAcceptorDeletion |
22/42 |
- |
1 |
16-2124225-C-T |
c.2380C>T |
p.Gln794* |
Nonsense |
22/42 |
- |
3 |
16-2124229-G-GG |
c.2384dup |
p.Leu796Profs*22 |
Frameshift |
22/42 |
- |
1 |
16-2124249-A-AA |
c.2404dup |
p.Ser802Lysfs*16 |
Frameshift |
22/42 |
- |
1 |
16-2124290-G-T |
c.2445G>T |
p.Met815Ile |
Missense |
22/42 |
- |
1 |
16-2124292-C-T |
c.2447C>T |
p.Pro816Leu |
Missense |
22/42 |
- |
1 |
16-2124293-T-TT |
c.2448dup |
p.Asp817* |
Nonsense |
22/42 |
- |
1 |
16-2124304-ATCA-A |
c.2459_2461del |
p.Ile820del |
InFrameDeletion |
22/42 |
- |
1 |
16-2124306-A-T |
c.2461A>T |
p.Lys821* |
Nonsense |
22/42 |
- |
1 |
16-2124321-C-A |
c.2476C>A |
p.Leu826Met |
Missense |
22/42 |
- |
1 |
16-2124387-TC-GA |
c.2542_2543inv |
p.Ser848Asp |
Missense |
22/42 |
- |
1 |
16-2124390-A-G |
c.2545A>G |
p.Thr849Ala |
Missense |
22/42 |
- |
1 |
16-2124435-T-A |
c.2545+45T>A |
- |
IntronicSNV |
- |
22/41 |
1 |
16-2124981-C-G |
c.2545+591C>G |
- |
IntronicSNV |
- |
22/41 |
1 |
16-2125798-A-T |
c.2546-2A>T |
- |
IntronicSNV |
- |
22/41 |
1 |
16-2125810-G-GG |
c.2556dup |
p.Leu853Alafs*30 |
Frameshift |
23/42 |
- |
1 |
16-2125825-AC-A |
c.2571del |
p.Tyr857* |
Frameshift |
23/42 |
- |
1 |
16-2125834-T-C |
c.2580T>C |
p.Phe860Phe |
Synonymous |
23/42 |
- |
6 |
16-2125834-T-G |
c.2580T>G |
p.Phe860Leu |
Missense |
23/42 |
- |
4 |
16-2125875-C-T |
c.2621C>T |
p.Pro874Leu |
Missense |
23/42 |
- |
2 |
16-2125886-C-T |
c.2632C>T |
p.Pro878Ser |
Missense |
23/42 |
- |
1 |
16-2125894-G-C |
c.2639+1G>C |
- |
IntronicSNV |
- |
23/41 |
1 |
16-2125937-C-G |
c.2639+44C>G |
- |
IntronicSNV |
- |
23/41 |
1 |
16-2126068-G-T |
c.2640-1G>T |
- |
IntronicSNV |
- |
23/41 |
1 |
16-2126072-TT-T |
c.2643del |
p.Phe881Leufs*13 |
Frameshift |
24/42 |
- |
1 |
16-2126076-C-T |
c.2647C>T |
p.Gln883* |
Nonsense |
24/42 |
- |
2 |
16-2126081-C-T |
c.2652C>T |
p.Tyr884Tyr |
Synonymous |
24/42 |
- |
1 |
16-2126119-T-C |
c.2690T>C |
p.Phe897Ser |
Missense |
24/42 |
- |
1 |
16-2126139-TT-GC |
c.2710_2711delinsGC |
p.Phe904Ala |
Missense |
24/42 |
- |
1 |
16-2126142-C-G |
c.2713C>G |
p.Arg905Gly |
Missense |
24/42 |
- |
1 |
16-2126142-C-T |
c.2713C>T |
p.Arg905Trp |
Missense |
24/42 |
- |
7 |
16-2126143-G-A |
c.2714G>A |
p.Arg905Gln |
Missense |
24/42 |
- |
11 |
16-2126166-CAC-C |
c.2737_2738del |
p.Thr913* |
Frameshift |
24/42 |
- |
1 |
16-2126168-T-TT |
c.2739dup |
p.Lys914* |
Nonsense |
24/42 |
- |
1 |
16-2126172-G-A |
c.2742+1G>A |
- |
IntronicSNV |
- |
24/41 |
1 |
16-2126496-T-C |
c.2747T>C |
p.Leu916Pro |
Missense |
25/42 |
- |
1 |
16-2126496-T-G |
c.2747T>G |
p.Leu916Arg |
Missense |
25/42 |
- |
1 |
16-2126520-TTT-T |
c.2771_2772del |
p.Phe924* |
Frameshift |
25/42 |
- |
1 |
16-2126533-C-CC |
c.2784dup |
p.Glu929Argfs*11 |
Frameshift |
25/42 |
- |
1 |
16-2126541-A-C |
c.2792A>C |
p.Asp931Ala |
Missense |
25/42 |
- |
1 |
16-2126556-G-T |
c.2807G>T |
p.Arg936Leu |
Missense |
25/42 |
- |
1 |
16-2126564-AGT-GAG |
c.2815_2817delinsGAG |
p.Ser939Glu |
Missense |
25/42 |
- |
1 |
16-2126564-AG-GC |
c.2815_2816delinsGC |
p.Ser939Ala |
Missense |
25/42 |
- |
12 |
16-2126573-G-T |
c.2824G>T |
p.Glu942* |
Nonsense |
25/42 |
- |
1 |
16-2126582-AAG-GAC |
c.2833_2835delinsGAC |
p.Lys945Asp |
Missense |
25/42 |
- |
1 |
16-2126583-A-G |
c.2834A>G |
p.Lys945Arg |
Missense |
25/42 |
- |
1 |
16-2126588-T-C |
c.2837+2T>C |
- |
IntronicSNV |
- |
25/41 |
1 |
16-2127477-G-A |
c.2838-122G>A |
- |
IntronicSNV |
- |
25/41 |
2 |
16-2127614-A-C |
c.2853A>C |
p.Arg951Ser |
Missense |
26/42 |
- |
1 |
16-2127614-A-T |
c.2853A>T |
p.Arg951Ser |
Missense |
26/42 |
- |
1 |
16-2127620-C-CC |
c.2859dup |
p.Lys954Glnfs*6 |
Frameshift |
26/42 |
- |
1 |
16-2127622-A-G |
c.2861A>G |
p.Lys954Arg |
Missense |
26/42 |
- |
3 |
16-2127634-A-G |
c.2873A>G |
p.Asn958Ser |
Missense |
26/42 |
- |
1 |
16-2127640-C-T |
c.2879C>T |
p.Ser960Phe |
Missense |
26/42 |
- |
2 |
16-2127648-G-A |
c.2887G>A |
p.Val963Met |
Missense |
26/42 |
- |
1 |
16-2127681-G-A |
c.2920G>A |
p.Ala974Thr |
Missense |
26/42 |
- |
1 |
16-2127702-AG-GC |
c.2941_2942delinsGC |
p.Ser981Ala |
Missense |
26/42 |
- |
2 |
16-2127711-G-C |
c.2950G>C |
p.Glu984Gln |
Missense |
26/42 |
- |
3 |
16-2127723-C-T |
c.2962C>T |
p.Arg988Cys |
Missense |
26/42 |
- |
2 |
16-2127724-G-C |
c.2963G>C |
p.Arg988Pro |
Missense |
26/42 |
- |
1 |
16-2129040-C-T |
c.2974C>T |
p.Gln992* |
Nonsense |
27/42 |
- |
2 |
16-2129044-C-T |
c.2978C>T |
p.Thr993Met |
Missense |
27/42 |
- |
3 |
16-2129094-C-T |
c.3028C>T |
p.Gln1010* |
Nonsense |
27/42 |
- |
3 |
16-2129116-AA-A |
c.3050del |
p.Asn1017Thrfs*13 |
Frameshift |
27/42 |
- |
1 |
16-2129118-CT-GC |
c.3052_3053delinsGC |
p.Leu1018Ala |
Missense |
27/42 |
- |
1 |
16-2129142-T-TT |
c.3076dup |
p.Cys1026Leufs*142 |
Frameshift |
27/42 |
- |
1 |
16-2129146-T-C |
c.3080T>C |
p.Leu1027Pro |
Missense |
27/42 |
- |
1 |
16-2129158-C-G |
c.3092C>G |
p.Ala1031Gly |
Missense |
27/42 |
- |
1 |
16-2129160-C-T |
c.3094C>T |
p.Arg1032* |
Nonsense |
27/42 |
- |
3 |
16-2129161-G-C |
c.3095G>C |
p.Arg1032Pro |
Missense |
27/42 |
- |
1 |
16-2129165-C-G |
c.3099C>G |
p.Tyr1033* |
Nonsense |
27/42 |
- |
3 |
16-2129166-G-A |
c.3100G>A |
p.Val1034Ile |
Missense |
27/42 |
- |
1 |
16-2129191-CC-C |
c.3125del |
p.Pro1042Argfs*11 |
Frameshift |
27/42 |
- |
1 |
16-2129192-G-T |
c.3126G>T |
p.Pro1042Pro |
Synonymous |
27/42 |
- |
1 |
16-2129276-G-C |
c.3132-1G>C |
- |
IntronicSNV |
- |
27/41 |
1 |
16-2129279-C-T |
c.3134C>T |
p.Ser1045Phe |
Missense |
28/42 |
- |
1 |
16-2129279-CTC-TTTT |
c.3134_3136delinsTTTT |
p.Ser1045Phefs*123 |
Frameshift |
28/42 |
- |
1 |
16-2129287-G-T |
c.3142G>T |
p.Gly1048Cys |
Missense |
28/42 |
- |
1 |
16-2129312-G-C |
c.3167G>C |
p.Arg1056Thr |
Missense |
28/42 |
- |
1 |
16-2129320-A-AA |
c.3175dup |
p.Thr1059Asnfs*109 |
Frameshift |
28/42 |
- |
1 |
16-2129324-G-C |
c.3179G>C |
p.Trp1060Ser |
Missense |
28/42 |
- |
1 |
16-2129324-G-A |
c.3179G>A |
p.Trp1060* |
Nonsense |
28/42 |
- |
1 |
16-2129325-G-A |
c.3180G>A |
p.Trp1060* |
Nonsense |
28/42 |
- |
1 |
16-2129330-GTTGG-G |
c.3185_3188del |
p.Val1062Glyfs*7 |
Frameshift |
28/42 |
- |
1 |
16-2129348-C-T |
c.3203C>T |
p.Thr1068Ile |
Missense |
28/42 |
- |
1 |
16-2129351-T-A |
c.3206T>A |
p.Val1069Glu |
Missense |
28/42 |
- |
1 |
16-2129351-T-C |
c.3206T>C |
p.Val1069Ala |
Missense |
28/42 |
- |
1 |
16-2129353-ACG-TGT |
c.3208_3210delinsTGT |
p.Thr1070Cys |
Missense |
28/42 |
- |
1 |
16-2129369-C-T |
c.3224C>T |
p.Thr1075Ile |
Missense |
28/42 |
- |
1 |
16-2129370-C-A |
c.3225C>A |
p.Thr1075Thr |
Synonymous |
28/42 |
- |
1 |
16-2129370-C-G |
c.3225C>G |
p.Thr1075Thr |
Synonymous |
28/42 |
- |
1 |
16-2129370-C-T |
c.3225C>T |
p.Thr1075Thr |
Synonymous |
28/42 |
- |
1 |
16-2129397-C-G |
c.3252C>G |
p.Asp1084Glu |
Missense |
28/42 |
- |
2 |
16-2129404-G-T |
c.3259G>T |
p.Glu1087* |
Nonsense |
28/42 |
- |
1 |
16-2129422-G-T |
c.3277G>T |
p.Glu1093* |
Nonsense |
28/42 |
- |
1 |
16-2129430-G-A |
c.3284+1G>A |
- |
IntronicSNV |
- |
28/41 |
1 |
16-2129539-C-T |
c.3285-19C>T |
- |
IntronicSNV |
- |
28/41 |
1 |
16-2129563-AG-A |
c.3290del |
p.Ser1097Thrfs*6 |
Frameshift |
29/42 |
- |
1 |
16-2129583-C-T |
c.3310C>T |
p.Gln1104* |
Nonsense |
29/42 |
- |
1 |
16-2129625-CA-TC |
c.3352_3353delinsTC |
p.Gln1118Ser |
Missense |
29/42 |
- |
1 |
16-2129629-CA-C |
c.3356del |
p.Gln1119Argfs*72 |
Frameshift |
29/42 |
- |
1 |
16-2129637-C-T |
c.3364C>T |
p.Arg1122Cys |
Missense |
29/42 |
- |
1 |
16-2129637-CC-C |
c.3364del |
p.Arg1122Valfs*69 |
Frameshift |
29/42 |
- |
1 |
16-2129643-GGCCCGGGATCGGG-G |
c.3370_3382del |
p.Ala1124Serfs*63 |
Frameshift |
29/42 |
- |
1 |
16-2129644-GCCCGGGATCGG-G |
c.3371_3381del |
p.Ala1124Glyfs*40 |
Frameshift |
29/42 |
- |
1 |
16-2129661-T-G |
c.3388T>G |
p.Ser1130Ala |
Missense |
29/42 |
- |
2 |
16-2129667-T-G |
c.3394T>G |
p.Ser1132Ala |
Missense |
29/42 |
- |
1 |
16-2130180-C-T |
c.3412C>T |
p.Arg1138* |
Nonsense |
30/42 |
- |
6 |
16-2130189-G-A |
c.3421G>A |
p.Ala1141Thr |
Missense |
30/42 |
- |
1 |
16-2130190-C-T |
c.3422C>T |
p.Ala1141Val |
Missense |
30/42 |
- |
3 |
16-2130198-G-A |
c.3430G>A |
p.Val1144Met |
Missense |
30/42 |
- |
1 |
16-2130210-C-T |
c.3442C>T |
p.Gln1148* |
Nonsense |
30/42 |
- |
2 |
16-2130240-C-T |
c.3472C>T |
p.Pro1158Ser |
Missense |
30/42 |
- |
1 |
16-2130245-G-T |
c.3477G>T |
p.Arg1159Arg |
Synonymous |
30/42 |
- |
1 |
16-2130245-G-C |
c.3477G>C |
p.Arg1159Arg |
Synonymous |
30/42 |
- |
1 |
16-2130245-G-A |
c.3477G>A |
p.Arg1159Arg |
Synonymous |
30/42 |
- |
1 |
16-2130243-C-T |
c.3475C>T |
p.Arg1159Trp |
Missense |
30/42 |
- |
1 |
16-2130243-C-A |
c.3475C>A |
p.Arg1159Arg |
Synonymous |
30/42 |
- |
1 |
16-2130253-C-T |
c.3485C>T |
p.Pro1162Leu |
Missense |
30/42 |
- |
1 |
16-2130259-C-T |
c.3491C>T |
p.Ala1164Val |
Missense |
30/42 |
- |
1 |
16-2130266-T-TT |
c.3498dup |
p.Glu1167* |
Nonsense |
30/42 |
- |
1 |
16-2130294-C-CT |
c.3526_3527insT |
p.Pro1176Leufs*58 |
Frameshift |
30/42 |
- |
1 |
16-2130300-C-T |
c.3532C>T |
p.Gln1178* |
Nonsense |
30/42 |
- |
2 |
16-2130306-A-T |
c.3538A>T |
p.Lys1180* |
Nonsense |
30/42 |
- |
1 |
16-2130325-A-G |
c.3557A>G |
p.Tyr1186Cys |
Missense |
30/42 |
- |
1 |
16-2130342-C-T |
c.3574C>T |
p.Gln1192* |
Nonsense |
30/42 |
- |
1 |
16-2130349-G-A |
c.3581G>A |
p.Trp1194* |
Nonsense |
30/42 |
- |
1 |
16-2130350-G-A |
c.3582G>A |
p.Trp1194* |
Nonsense |
30/42 |
- |
1 |
16-2130357-A-T |
c.3589A>T |
p.Ile1197Phe |
Missense |
30/42 |
- |
1 |
16-2130364-T-G |
c.3596T>G |
p.Val1199Gly |
Missense |
30/42 |
- |
1 |
16-2130366-C-T |
c.3598C>T |
p.Arg1200Trp |
Missense |
30/42 |
- |
4 |
16-2130367-G-C |
c.3599G>C |
p.Arg1200Pro |
Missense |
30/42 |
- |
5 |
16-2130373-C-A |
c.3605C>A |
p.Pro1202His |
Missense |
30/42 |
- |
1 |
16-2130375-A-G |
c.3607A>G |
p.Thr1203Ala |
Missense |
30/42 |
- |
1 |
16-2130378-G-C |
c.3610G>C |
p.Gly1204Arg |
Missense |
30/42 |
- |
1 |
16-2130378-G-A |
c.3610G>A |
p.Gly1204Arg |
Missense |
30/42 |
- |
1 |
16-2130379-G-A |
c.3610+1G>A |
- |
IntronicSNV |
- |
30/41 |
2 |
16-2130379-G-T |
c.3610+1G>T |
- |
IntronicSNV |
- |
30/41 |
1 |
16-2130697-G-A |
c.3610+319G>A |
- |
IntronicSNV |
- |
30/41 |
1 |
16-2131562-CTGGCCTCAGGCCAAAGGTGCTGCCGC-C |
c.3611-34_3611-9del |
- |
IntronicDeletion |
- |
30/41 |
1 |
16-2131596-G-A |
c.3611G>A |
p.Gly1204Glu |
Missense |
31/42 |
- |
1 |
16-2131609-G-A |
c.3624G>A |
p.Trp1208* |
Nonsense |
31/42 |
- |
1 |
16-2131611-T-C |
c.3626T>C |
p.Leu1209Pro |
Missense |
31/42 |
- |
1 |
16-2131631-C-A |
c.3646C>A |
p.Leu1216Ile |
Missense |
31/42 |
- |
1 |
16-2131667-C-CC |
c.3682dup |
p.Leu1228Profs*6 |
Frameshift |
31/42 |
- |
1 |
16-2131670-C-T |
c.3685C>T |
p.Gln1229* |
Nonsense |
31/42 |
- |
3 |
16-2131673-G-A |
c.3688G>A |
p.Glu1230Lys |
Missense |
31/42 |
- |
1 |
16-2131676-GCTGTCTAACGCCCTCAT-G |
c.3691_3707del |
p.Leu1231Glyfs*3 |
Frameshift |
31/42 |
- |
1 |
16-2131678-TGTCT-T |
c.3693_3696del |
p.Ser1232Thrfs*92 |
Frameshift |
31/42 |
- |
1 |
16-2131697-GGCTG-G |
c.3712_3715del |
p.Ala1238Serfs*86 |
Frameshift |
31/42 |
- |
1 |
16-2131698-C-T |
c.3713C>T |
p.Ala1238Val |
Missense |
31/42 |
- |
1 |
16-2131710-A-AA |
c.3725dup |
p.Glu1243Glyfs*79 |
Frameshift |
31/42 |
- |
1 |
16-2131721-G-A |
c.3736G>A |
p.Asp1246Asn |
Missense |
31/42 |
- |
1 |
16-2131735-C-G |
c.3750C>G |
p.Tyr1250* |
Nonsense |
31/42 |
- |
1 |
16-2131740-C-T |
c.3755C>T |
p.Ser1252Leu |
Missense |
31/42 |
- |
1 |
16-2131745-T-G |
c.3760T>G |
p.Ser1254Ala |
Missense |
31/42 |
- |
1 |
16-2131746-C-T |
c.3761C>T |
p.Ser1254Leu |
Missense |
31/42 |
- |
1 |
16-2131757-AGCCAGCA-A |
c.3772_3778del |
p.Ala1258Argfs*65 |
Frameshift |
31/42 |
- |
1 |
16-2131757-GC-CG |
c.3772_3773delinsCG |
p.Ala1258Arg |
Missense |
31/42 |
- |
1 |
16-2131764-C-T |
c.3779C>T |
p.Thr1260Met |
Missense |
31/42 |
- |
1 |
16-2131766-G-A |
c.3781G>A |
p.Ala1261Thr |
Missense |
31/42 |
- |
1 |
16-2131787-C-T |
c.3802C>T |
p.Arg1268Cys |
Missense |
31/42 |
- |
2 |
16-2131788-G-A |
c.3803G>A |
p.Arg1268His |
Missense |
31/42 |
- |
1 |
16-2131800-G-C |
c.3814+1G>C |
- |
IntronicSNV |
- |
31/41 |
1 |
16-2131818-C-CC |
c.3814+19dup |
- |
IntronicInsertion |
- |
31/41 |
1 |
16-2132416-G-A |
c.3815-21G>A |
- |
IntronicSNV |
- |
31/41 |
1 |
16-2132449-C-T |
c.3827C>T |
p.Ser1276Phe |
Missense |
32/42 |
- |
3 |
16-2132459-C-G |
c.3837C>G |
p.Tyr1279* |
Nonsense |
32/42 |
- |
1 |
16-2132466-A-G |
c.3844A>G |
p.Ser1282Gly |
Missense |
32/42 |
- |
1 |
16-2132466-CAGC-C |
c.3844_3846del |
p.Ser1282del |
InFrameDeletion |
32/42 |
- |
1 |
16-2132468-GCTGCCAAGG-G |
c.3846_3854del |
p.Ser1282_Gly1285delinsArg |
MultiAAMissense |
32/42 |
- |
1 |
16-2132472-CCAAGGAC-C |
c.3850_3856del |
p.Gln1284Serfs*39 |
Frameshift |
32/42 |
- |
1 |
16-2132493-G-A |
c.3871G>A |
p.Val1291Ile |
Missense |
32/42 |
- |
1 |
16-2132511-G-A |
c.3883+6G>A |
- |
IntronicSNV |
- |
32/41 |
1 |
16-2133726-C-T |
c.3914C>T |
p.Pro1305Leu |
Missense |
33/42 |
- |
2 |
16-2133755-C-G |
c.3943C>G |
p.Pro1315Ala |
Missense |
33/42 |
- |
1 |
16-2133764-GGAGGACGTTG-G |
c.3952_3961del |
p.Glu1318Argfs*4 |
Frameshift |
33/42 |
- |
1 |
16-2133765-A-G |
c.3953A>G |
p.Glu1318Gly |
Missense |
33/42 |
- |
1 |
16-2133786-G-A |
c.3974G>A |
p.Gly1325Asp |
Missense |
33/42 |
- |
2 |
16-2133798-G-A |
c.3986G>A |
p.Arg1329His |
Missense |
33/42 |
- |
3 |
16-2133801-C-T |
c.3989C>T |
p.Thr1330Met |
Missense |
33/42 |
- |
1 |
16-2133811-C-A |
c.3999C>A |
p.Tyr1333* |
Nonsense |
33/42 |
- |
1 |
16-2133901-C-T |
c.4005+84C>T |
- |
IntronicSNV |
- |
33/41 |
3 |
16-2134158-C-T |
c.4006-71C>T |
- |
IntronicSNV |
- |
33/41 |
1 |
16-2134230-C-T |
c.4007C>T |
p.Ser1336Leu |
Missense |
34/42 |
- |
2 |
16-2134230-C-G |
c.4007C>G |
p.Ser1336Trp |
Missense |
34/42 |
- |
1 |
16-2134235-T-G |
c.4012T>G |
p.Ser1338Ala |
Missense |
34/42 |
- |
2 |
16-2134236-TCA-T |
c.4013_4014del |
p.Ser1338Cysfs*75 |
Frameshift |
34/42 |
- |
1 |
16-2134270-G-A |
c.4047G>A |
p.Ala1349Ala |
Synonymous |
34/42 |
- |
1 |
16-2134274-G-A |
c.4051G>A |
p.Glu1351Lys |
Missense |
34/42 |
- |
2 |
16-2134274-G-T |
c.4051G>T |
p.Glu1351* |
Nonsense |
34/42 |
- |
2 |
16-2134306-GAGTCG-G |
c.4083_4087del |
p.Val1362Leufs*50 |
Frameshift |
34/42 |
- |
1 |
16-2134313-TCC-GAG |
c.4090_4092delinsGAG |
p.Ser1364Glu |
Missense |
34/42 |
- |
1 |
16-2134313-T-G |
c.4090T>G |
p.Ser1364Ala |
Missense |
34/42 |
- |
1 |
16-2134316-T-G |
c.4093T>G |
p.Ser1365Ala |
Missense |
34/42 |
- |
1 |
16-2134316-TC-GA |
c.4093_4094inv |
p.Ser1365Glu |
Missense |
34/42 |
- |
1 |
16-2134317-C-T |
c.4094C>T |
p.Ser1365Leu |
Missense |
34/42 |
- |
1 |
16-2134320-A-C |
c.4097A>C |
p.Glu1366Ala |
Missense |
34/42 |
- |
1 |
16-2134322-G-A |
c.4099G>A |
p.Gly1367Ser |
Missense |
34/42 |
- |
1 |
16-2134328-C-A |
c.4105C>A |
p.Arg1369Arg |
Synonymous |
34/42 |
- |
1 |
16-2134328-C-T |
c.4105C>T |
p.Arg1369Trp |
Missense |
34/42 |
- |
2 |
16-2134329-G-A |
c.4106G>A |
p.Arg1369Gln |
Missense |
34/42 |
- |
1 |
16-2134352-C-T |
c.4129C>T |
p.Gln1377* |
Nonsense |
34/42 |
- |
1 |
16-2134368-T-TC |
c.4145_4146insC |
p.Ser1383Glufs*31 |
Frameshift |
34/42 |
- |
1 |
16-2134382-T-G |
c.4159T>G |
p.Ser1387Ala |
Missense |
34/42 |
- |
1 |
16-2134397-C-T |
c.4174C>T |
p.Gln1392* |
Nonsense |
34/42 |
- |
2 |
16-2134399-AGA-A |
c.4176_4177del |
p.Gln1392Hisfs*21 |
Frameshift |
34/42 |
- |
1 |
16-2134403-TCT-T |
c.4180_4181del |
p.Leu1394Alafs*19 |
Frameshift |
34/42 |
- |
2 |
16-2134448-C-G |
c.4225C>G |
p.Arg1409Gly |
Missense |
34/42 |
- |
1 |
16-2134458-CCT-C |
c.4235_4236del |
p.Pro1412Argfs*3 |
Frameshift |
34/42 |
- |
1 |
16-2134475-T-G |
c.4252T>G |
p.Ser1418Ala |
Missense |
34/42 |
- |
1 |
16-2134478-C-T |
c.4255C>T |
p.Gln1419* |
Nonsense |
34/42 |
- |
1 |
16-2134492-G-T |
c.4269G>T |
p.Leu1423Leu |
Synonymous |
34/42 |
- |
1 |
16-2134490-C-T |
c.4267C>T |
p.Leu1423Leu |
Synonymous |
34/42 |
- |
1 |
16-2134492-G-A |
c.4269G>A |
p.Leu1423Leu |
Synonymous |
34/42 |
- |
1 |
16-2134492-G-C |
c.4269G>C |
p.Leu1423Leu |
Synonymous |
34/42 |
- |
1 |
16-2134496-G-A |
c.4273G>A |
p.Gly1425Arg |
Missense |
34/42 |
- |
1 |
16-2134496-G-C |
c.4273G>C |
p.Gly1425Arg |
Missense |
34/42 |
- |
1 |
16-2134508-G-T |
c.4285G>T |
p.Ala1429Ser |
Missense |
34/42 |
- |
3 |
16-2134521-C-T |
c.4298C>T |
p.Ser1433Leu |
Missense |
34/42 |
- |
2 |
16-2134536-G-A |
c.4313G>A |
p.Arg1438Gln |
Missense |
34/42 |
- |
1 |
16-2134539-G-A |
c.4316G>A |
p.Gly1439Asp |
Missense |
34/42 |
- |
4 |
16-2134541-C-T |
c.4318C>T |
p.Gln1440* |
Nonsense |
34/42 |
- |
2 |
16-2134559-C-G |
c.4336C>G |
p.Pro1446Ala |
Missense |
34/42 |
- |
1 |
16-2134567-C-A |
c.4344C>A |
p.Ser1448Arg |
Missense |
34/42 |
- |
1 |
16-2134567-C-G |
c.4344C>G |
p.Ser1448Arg |
Missense |
34/42 |
- |
1 |
16-2134565-A-C |
c.4342A>C |
p.Ser1448Arg |
Missense |
34/42 |
- |
1 |
16-2134590-CTCCGGCCCCGAGGTTACAC-C |
c.4367_4385del |
p.Leu1456Profs*14 |
Frameshift |
34/42 |
- |
1 |
16-2134598-C-T |
c.4375C>T |
p.Arg1459* |
Nonsense |
34/42 |
- |
9 |
16-2134607-A-C |
c.4384A>C |
p.Thr1462Pro |
Missense |
34/42 |
- |
1 |
16-2134607-A-G |
c.4384A>G |
p.Thr1462Ala |
Missense |
34/42 |
- |
7 |
16-2134620-C-T |
c.4397C>T |
p.Ser1466Leu |
Missense |
34/42 |
- |
1 |
16-2134638-GG-G |
c.4415del |
p.Gly1472Alafs*4 |
Frameshift |
34/42 |
- |
1 |
16-2134642-G-A |
c.4419G>A |
p.Lys1473Lys |
Synonymous |
34/42 |
- |
1 |
16-2134649-G-C |
c.4426G>C |
p.Glu1476Gln |
Missense |
34/42 |
- |
1 |
16-2134652-A-G |
c.4429A>G |
p.Arg1477Gly |
Missense |
34/42 |
- |
1 |
16-2134665-A-AA |
c.4442dup |
p.Ser1482Glufs*42 |
Frameshift |
34/42 |
- |
1 |
16-2134683-C-G |
c.4460C>G |
p.Ser1487Cys |
Missense |
34/42 |
- |
1 |
16-2134692-A-G |
c.4469A>G |
p.Glu1490Gly |
Missense |
34/42 |
- |
1 |
16-2134693-GA-TT |
c.4470_4471delinsTT |
p.Glu1490_Lys1491delinsAsp* |
MultiAAMissense |
34/42 |
- |
1 |
16-2134713-C-T |
c.4490C>T |
p.Pro1497Leu |
Missense |
34/42 |
- |
3 |
16-2134713-C-G |
c.4490C>G |
p.Pro1497Arg |
Missense |
34/42 |
- |
1 |
16-2134716-G-A |
c.4493G>A |
p.Ser1498Asn |
Missense |
34/42 |
- |
1 |
16-2134717-G-A |
c.4493+1G>A |
- |
IntronicSNV |
- |
34/41 |
1 |
16-2134734-G-A |
c.4493+18G>A |
- |
IntronicSNV |
- |
34/41 |
1 |
16-2134954-T-TT |
c.4496dup |
p.Val1500Argfs*24 |
Frameshift |
- |
- |
1 |
16-2134956-G-A |
c.4498G>A |
p.Val1500Met |
Missense |
35/42 |
- |
1 |
16-2134960-T-C |
c.4502T>C |
p.Phe1501Ser |
Missense |
35/42 |
- |
1 |
16-2134985-TCTT-T |
c.4527_4529del |
p.Phe1510del |
InFrameDeletion |
35/42 |
- |
2 |
16-2134988-TTGGCGACG-T |
c.4530_4537del |
p.Phe1510Leufs*11 |
Frameshift |
35/42 |
- |
1 |
16-2134993-A-C |
c.4535A>C |
p.Asp1512Ala |
Missense |
35/42 |
- |
1 |
16-2134993-GACGAG-G |
c.4535_4539del |
p.Asp1512Valfs*10 |
Frameshift |
35/42 |
- |
1 |
16-2134995-G-T |
c.4537G>T |
p.Glu1513* |
Nonsense |
35/42 |
- |
2 |
16-2134995-G-A |
c.4537G>A |
p.Glu1513Lys |
Missense |
35/42 |
- |
1 |
16-2134999-C-G |
c.4541C>G |
p.Ser1514* |
Nonsense |
35/42 |
- |
2 |
16-2134999-C-A |
c.4541C>A |
p.Ser1514* |
Nonsense |
35/42 |
- |
2 |
16-2135002-AACAA-A |
c.4544_4547del |
p.Asn1515Serfs*60 |
Frameshift |
35/42 |
- |
2 |
16-2135018-TG-T |
c.4560del |
p.Asn1522Metfs*54 |
Frameshift |
35/42 |
- |
1 |
16-2135023-AAT-A |
c.4565_4566del |
p.Asn1522Argfs*6 |
Frameshift |
35/42 |
- |
1 |
16-2135231-T-TT |
c.4570dup |
p.Ser1524Phefs*5 |
SpliceAcceptorInsertion |
36/42 |
- |
1 |
16-2135242-TT-T |
c.4581del |
p.Phe1527Leufs*49 |
Frameshift |
36/42 |
- |
1 |
16-2135243-G-C |
c.4582G>C |
p.Glu1528Gln |
Missense |
36/42 |
- |
1 |
16-2135247-G-A |
c.4586G>A |
p.Arg1529Gln |
Missense |
36/42 |
- |
1 |
16-2135264-CGAC-C |
c.4603_4605del |
p.Asp1535del |
InFrameDeletion |
36/42 |
- |
1 |
16-2135264-G-T |
c.4603G>T |
p.Asp1535Tyr |
Missense |
36/42 |
- |
1 |
16-2135265-A-C |
c.4604A>C |
p.Asp1535Ala |
Missense |
36/42 |
- |
1 |
16-2135281-C-G |
c.4620C>G |
p.Tyr1540* |
Nonsense |
36/42 |
- |
2 |
16-2135281-C-A |
c.4620C>A |
p.Tyr1540* |
Nonsense |
36/42 |
- |
2 |
16-2135300-G-A |
c.4639G>A |
p.Val1547Ile |
Missense |
36/42 |
- |
2 |
16-2135307-A-G |
c.4646A>G |
p.Tyr1549Cys |
Missense |
36/42 |
- |
1 |
16-2135311-TTGGA-T |
c.4650_4653del |
p.Gly1551Lysfs*24 |
Frameshift |
36/42 |
- |
1 |
16-2135321-C-T |
c.4660C>T |
p.Gln1554* |
Nonsense |
36/42 |
- |
2 |
16-2135323-G-T |
c.4662G>T |
p.Gln1554His |
Missense |
36/42 |
- |
1 |
16-2135323-G-C |
c.4662G>C |
p.Gln1554His |
Missense |
36/42 |
- |
1 |
16-2136203-G-A |
c.4672G>A |
p.Glu1558Lys |
Missense |
37/42 |
- |
3 |
16-2136216-T-C |
c.4685T>C |
p.Leu1562Pro |
Missense |
37/42 |
- |
1 |
16-2136231-G-T |
c.4700G>T |
p.Gly1567Val |
Missense |
37/42 |
- |
1 |
16-2136238-C-A |
c.4707C>A |
p.Tyr1569* |
Nonsense |
37/42 |
- |
1 |
16-2136239-A-T |
c.4708A>T |
p.Arg1570Trp |
Missense |
37/42 |
- |
1 |
16-2136240-AGGTACA-A |
c.4709_4714del |
p.Arg1570_Tyr1571del |
InFrameDeletion |
37/42 |
- |
1 |
16-2136243-A-G |
c.4712A>G |
p.Tyr1571Cys |
Missense |
37/42 |
- |
1 |
16-2136244-C-A |
c.4713C>A |
p.Tyr1571* |
Nonsense |
37/42 |
- |
1 |
16-2136244-C-G |
c.4713C>G |
p.Tyr1571* |
Nonsense |
37/42 |
- |
1 |
16-2136261-GG-G |
c.4730del |
p.Gly1577Alafs*8 |
Frameshift |
37/42 |
- |
1 |
16-2136266-GGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGA-G |
c.4735_4793del |
p.Gly1579Argfs*4 |
Frameshift |
37/42 |
- |
1 |
16-2136266-G-A |
c.4735G>A |
p.Gly1579Ser |
Missense |
37/42 |
- |
1 |
16-2136268-C-T |
c.4737C>T |
p.Gly1579Gly |
Synonymous |
37/42 |
- |
1 |
16-2136269-C-T |
c.4738C>T |
p.Arg1580Trp |
Missense |
37/42 |
- |
2 |
16-2136275-CATC-C |
c.4744_4746del |
p.Ile1582del |
InFrameDeletion |
37/42 |
- |
1 |
16-2136293-C-T |
c.4762C>T |
p.Gln1588* |
Nonsense |
37/42 |
- |
1 |
16-2136297-CC-C |
c.4766del |
p.Pro1589Argfs*36 |
Frameshift |
37/42 |
- |
1 |
16-2136298-G-A |
c.4767G>A |
p.Pro1589Pro |
Synonymous |
37/42 |
- |
1 |
16-2136298-G-C |
c.4767G>C |
p.Pro1589Pro |
Synonymous |
37/42 |
- |
1 |
16-2136298-G-T |
c.4767G>T |
p.Pro1589Pro |
Synonymous |
37/42 |
- |
1 |
16-2136314-G-A |
c.4783G>A |
p.Gly1595Arg |
Missense |
37/42 |
- |
1 |
16-2136331-GTG-G |
c.4800_4801del |
p.Cys1600Trpfs*2 |
Frameshift |
37/42 |
- |
1 |
16-2136344-C-T |
c.4813C>T |
p.Gln1605* |
Nonsense |
37/42 |
- |
2 |
16-2136361-G-A |
c.4830G>A |
p.Trp1610* |
Nonsense |
37/42 |
- |
5 |
16-2136377-C-T |
c.4846C>T |
p.Gln1616* |
Nonsense |
37/42 |
- |
1 |
16-2136382-GTACGGCCTGG-G |
c.4849+2_4849+11del |
- |
IntronicDeletion |
- |
37/41 |
1 |
16-2136624-T-G |
c.4850-109T>G |
- |
IntronicSNV |
- |
37/41 |
2 |
16-2136624-T-C |
c.4850-109T>C |
- |
IntronicSNV |
- |
37/41 |
2 |
16-2136732-G-A |
c.4850-1G>A |
- |
IntronicSNV |
- |
37/41 |
1 |
16-2136739-T-C |
c.4856T>C |
p.Phe1619Ser |
Missense |
38/42 |
- |
1 |
16-2136741-C-T |
c.4858C>T |
p.His1620Tyr |
Missense |
38/42 |
- |
2 |
16-2136742-A-G |
c.4859A>G |
p.His1620Arg |
Missense |
38/42 |
- |
1 |
16-2136742-A-C |
c.4859A>C |
p.His1620Pro |
Missense |
38/42 |
- |
1 |
16-2136754-T-C |
c.4871T>C |
p.Leu1624Pro |
Missense |
38/42 |
- |
3 |
16-2136788-C-A |
c.4905C>A |
p.Cys1635* |
Nonsense |
38/42 |
- |
1 |
16-2136792-CAA-C |
c.4909_4910del |
p.Lys1637Glufs*15 |
Frameshift |
38/42 |
- |
1 |
16-2136795-GAAG-G |
c.4912_4914del |
p.Lys1638del |
InFrameDeletion |
38/42 |
- |
3 |
16-2136801-C-T |
c.4918C>T |
p.His1640Tyr |
Missense |
38/42 |
- |
2 |
16-2136808-G-A |
c.4925G>A |
p.Gly1642Asp |
Missense |
38/42 |
- |
3 |
16-2136811-A-T |
c.4928A>T |
p.Asn1643Ile |
Missense |
38/42 |
- |
1 |
16-2136811-A-G |
c.4928A>G |
p.Asn1643Ser |
Missense |
38/42 |
- |
1 |
16-2136812-C-G |
c.4929C>G |
p.Asn1643Lys |
Missense |
38/42 |
- |
5 |
16-2136812-C-A |
c.4929C>A |
p.Asn1643Lys |
Missense |
38/42 |
- |
5 |
16-2136812-C-CT |
c.4929_4930insT |
p.Asp1644* |
Nonsense |
38/42 |
- |
1 |
16-2136818-T-TT |
c.4935dup |
p.Val1646Cysfs*7 |
Frameshift |
38/42 |
- |
1 |
16-2136820-T-G |
c.4937T>G |
p.Val1646Gly |
Missense |
38/42 |
- |
1 |
16-2136825-A-T |
c.4942A>T |
p.Ile1648Phe |
Missense |
38/42 |
- |
1 |
16-2136826-T-C |
c.4943T>C |
p.Ile1648Thr |
Missense |
38/42 |
- |
1 |
16-2136832-A-G |
c.4949A>G |
p.Tyr1650Cys |
Missense |
38/42 |
- |
1 |
16-2136835-A-G |
c.4952A>G |
p.Asn1651Ser |
Missense |
38/42 |
- |
5 |
16-2136841-C-T |
c.4958C>T |
p.Ser1653Phe |
Missense |
38/42 |
- |
1 |
16-2136849-G-A |
c.4966G>A |
p.Asp1656Asn |
Missense |
38/42 |
- |
1 |
16-2136849-G-T |
c.4966G>T |
p.Asp1656Tyr |
Missense |
38/42 |
- |
1 |
16-2137867-C-T |
c.4993C>T |
p.Gln1665* |
Nonsense |
39/42 |
- |
1 |
16-2137870-GTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCT-G |
c.4996_5054del |
p.Phe1666Alafs*20 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
39/42 |
- |
1 |
16-2137892-T-C |
c.5018T>C |
p.Val1673Ala |
Missense |
39/42 |
- |
1 |
16-2137898-C-T |
c.5024C>T |
p.Pro1675Leu |
Missense |
39/42 |
- |
3 |
16-2137904-GA-G |
c.5030del |
p.Asp1677Alafs*149 |
Frameshift |
39/42 |
- |
1 |
16-2137906-T-TT |
c.5032dup |
p.Tyr1678Leufs*28 |
Frameshift |
39/42 |
- |
1 |
16-2137917-C-A |
c.5043C>A |
p.Asn1681Lys |
Missense |
39/42 |
- |
1 |
16-2137917-C-G |
c.5043C>G |
p.Asn1681Lys |
Missense |
39/42 |
- |
1 |
16-2137925-TCCCTGCAGTGCAGGAAAG-T |
c.5051_5068del |
p.Ser1684_Asp1690delinsTyr |
SpliceDonorDeletion |
39/42 |
- |
1 |
16-2137933-T-TT |
c.5059dup |
p.Cys1687Leufs*19 |
Frameshift |
39/42 |
- |
1 |
16-2138028-G-A |
c.5069-21G>A |
- |
IntronicSNV |
- |
39/41 |
1 |
16-2138065-G-GT |
c.5085_5086insT |
p.Asp1696* |
Nonsense |
40/42 |
- |
1 |
16-2138074-C-G |
c.5094C>G |
p.Ser1698Arg |
Missense |
40/42 |
- |
1 |
16-2138074-C-A |
c.5094C>A |
p.Ser1698Arg |
Missense |
40/42 |
- |
1 |
16-2138072-A-C |
c.5092A>C |
p.Ser1698Arg |
Missense |
40/42 |
- |
1 |
16-2138086-C-CCACA |
c.5106_5107insCACA |
p.Val1703Hisfs*4 |
Frameshift |
40/42 |
- |
1 |
16-2138088-T-TT |
c.5108dup |
p.Ser1704Valfs*2 |
Frameshift |
40/42 |
- |
1 |
16-2138090-GT-G |
c.5110del |
p.Ser1704Leufs*122 |
Frameshift |
40/42 |
- |
1 |
16-2138090-T-A |
c.5110T>A |
p.Ser1704Thr |
Missense |
40/42 |
- |
1 |
16-2138106-C-T |
c.5126C>T |
p.Pro1709Leu |
Missense |
40/42 |
- |
2 |
16-2138107-CC-C |
c.5127del |
p.Phe1710Serfs*116 |
Frameshift |
40/42 |
- |
1 |
16-2138111-G-A |
c.5131G>A |
p.Val1711Met |
Missense |
40/42 |
- |
3 |
16-2138115-C-T |
c.5135C>T |
p.Ala1712Val |
Missense |
40/42 |
- |
1 |
16-2138118-G-A |
c.5138G>A |
p.Arg1713His |
Missense |
40/42 |
- |
3 |
16-2138126-GGCC-G |
c.5146_5148del |
p.Ala1716del |
InFrameDeletion |
40/42 |
- |
1 |
16-2138130-T-C |
c.5150T>C |
p.Leu1717Pro |
Missense |
40/42 |
- |
1 |
16-2138135-G-C |
c.5155G>C |
p.Ala1719Pro |
Missense |
40/42 |
- |
1 |
16-2138143-G-C |
c.5160+3G>C |
- |
IntronicSNV |
- |
40/41 |
1 |
16-2138144-A-G |
c.5160+4A>G |
- |
IntronicSNV |
- |
40/41 |
1 |
16-2138145-G-T |
c.5160+5G>T |
- |
IntronicSNV |
- |
40/41 |
2 |
16-2138219-C-T |
c.5161-9C>T |
- |
IntronicSNV |
- |
40/41 |
2 |
16-2138235-C-A |
c.5168C>A |
p.Ser1723* |
Nonsense |
41/42 |
- |
1 |
16-2138236-A-AA |
c.5169dup |
p.Gln1724Thrfs*5 |
Frameshift |
41/42 |
- |
1 |
16-2138242-TGC-T |
c.5175_5176del |
p.His1726Serfs*2 |
Frameshift |
41/42 |
- |
1 |
16-2138243-CA-AG |
c.5176_5177delinsAG |
p.His1726Ser |
Missense |
41/42 |
- |
1 |
16-2138266-C-CC |
c.5199dup |
p.Asp1734Argfs*41 |
Frameshift |
41/42 |
- |
1 |
16-2138267-G-A |
c.5200G>A |
p.Asp1734Asn |
Missense |
41/42 |
- |
1 |
16-2138269-T-C |
c.5202T>C |
p.Asp1734Asp |
Synonymous |
41/42 |
- |
5 |
16-2138269-T-A |
c.5202T>A |
p.Asp1734Glu |
Missense |
41/42 |
- |
3 |
16-2138269-T-G |
c.5202T>G |
p.Asp1734Glu |
Missense |
41/42 |
- |
3 |
16-2138279-CT-C |
c.5212del |
p.Ser1738Profs*88 |
Frameshift |
41/42 |
- |
1 |
16-2138286-G-A |
c.5219G>A |
p.Trp1740* |
Nonsense |
41/42 |
- |
1 |
16-2138287-G-A |
c.5220G>A |
p.Trp1740* |
Nonsense |
41/42 |
- |
1 |
16-2138294-C-T |
c.5227C>T |
p.Arg1743Trp |
Missense |
41/42 |
- |
6 |
16-2138294-C-G |
c.5227C>G |
p.Arg1743Gly |
Missense |
41/42 |
- |
1 |
16-2138295-G-T |
c.5228G>T |
p.Arg1743Leu |
Missense |
41/42 |
- |
1 |
16-2138295-G-A |
c.5228G>A |
p.Arg1743Gln |
Missense |
41/42 |
- |
10 |
16-2138295-G-C |
c.5228G>C |
p.Arg1743Pro |
Missense |
41/42 |
- |
1 |
16-2138305-C-CC |
c.5238dup |
p.Ile1747Hisfs*28 |
Frameshift |
41/42 |
- |
1 |
16-2138305-ACATCAAGCGGCTCCGCCA-A |
c.5238_5255del |
p.His1746_Arg1751del |
InFrameDeletion |
41/42 |
- |
9 |
16-2138305-C-T |
c.5238C>T |
p.His1746His |
Synonymous |
41/42 |
- |
1 |
16-2138318-C-T |
c.5251C>T |
p.Arg1751Cys |
Missense |
41/42 |
- |
2 |
16-2138319-CGCC-C |
c.5252_5254del |
p.Arg1751del |
InFrameDeletion |
41/42 |
- |
5 |
16-2138319-CGCCAGCGGGTAGGGAATATGGGGCTCC-C |
c.5252_5259+19del |
- |
SpliceDonorDeletion |
41/42 |
41/41 |
2 |
16-2138413-CCCAGACTTACTGCCCAAGCCGCCTC-C |
c.5260-34_5260-10del |
- |
IntronicDeletion |
- |
41/41 |
1 |
16-2138500-G-C |
c.5313G>C |
p.Pro1771Pro |
Synonymous |
42/42 |
- |
1 |
16-2138507-A-G |
c.5320A>G |
p.Ser1774Gly |
Missense |
42/42 |
- |
1 |
16-2138508-G-C |
c.5321G>C |
p.Ser1774Thr |
Missense |
42/42 |
- |
1 |
16-2138543-C-T |
c.5356C>T |
p.Pro1786Ser |
Missense |
42/42 |
- |
1 |
16-2138546-G-A |
c.5359G>A |
p.Gly1787Ser |
Missense |
42/42 |
- |
1 |
16-2138565-G-A |
c.5378G>A |
p.Arg1793Gln |
Missense |
42/42 |
- |
1 |
16-2138570-C-T |
c.5383C>T |
p.Arg1795Cys |
Missense |
42/42 |
- |
2 |
16-2138579-T-G |
c.5392T>G |
p.Ser1798Ala |
Missense |
42/42 |
- |
4 |
16-2138579-T-C |
c.5392T>C |
p.Ser1798Pro |
Missense |
42/42 |
- |
1 |
16-2138582-CTCG-C |
c.5395_5397del |
p.Ser1799del |
InFrameDeletion |
42/42 |
- |
1 |
16-2138584-G-A |
c.5397G>A |
p.Ser1799Ser |
Synonymous |
42/42 |
- |
5 |
16-2138584-G-C |
c.5397G>C |
p.Ser1799Ser |
Synonymous |
42/42 |
- |
5 |
16-2138584-G-T |
c.5397G>T |
p.Ser1799Ser |
Synonymous |
42/42 |
- |
5 |
16-2138605-T-G |
c.5418T>G |
p.Phe1806Leu |
Missense |
42/42 |
- |
1 |