Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.91297354_91297446del | CA2626129391 | CCDC88C | c.3829_3921del (p.Ala1277_His1307del) c.3721_3813del (p.Ala1241_His1271del) n.3957_4049del c.910_1002del (p.Ala304_His334del) n.3955_4047del | gnomAD v4 |
14 | g.91297371G>A | CA7309189 | CCDC88C | c.3900C>T (p.Phe1300=) c.3792C>T (p.Phe1264=) n.4028C>T c.981C>T (p.Phe327=) n.4026C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91297371G>C | CA390618245 | CCDC88C | c.3900C>G (p.Phe1300Leu) c.3792C>G (p.Phe1264Leu) n.4028C>G c.981C>G (p.Phe327Leu) n.4026C>G | |
14 | g.91297371G= | CA2154888595 | CCDC88C | c.3900C= (p.Phe1300=) c.3792C= (p.Phe1264=) n.4028C= c.981C= (p.Phe327=) n.4026C= | |
14 | g.91297371G>T | CA390618243 | CCDC88C | c.3900C>A (p.Phe1300Leu) c.3792C>A (p.Phe1264Leu) n.4028C>A c.981C>A (p.Phe327Leu) n.4026C>A | |
14 | g.91297372A>C | CA390618249 | CCDC88C | c.3899T>G (p.Phe1300Cys) c.3791T>G (p.Phe1264Cys) n.4027T>G c.980T>G (p.Phe327Cys) n.4025T>G | |
14 | g.91297372A>G | CA390618250 | CCDC88C | c.3899T>C (p.Phe1300Ser) c.3791T>C (p.Phe1264Ser) n.4027T>C c.980T>C (p.Phe327Ser) n.4025T>C | |
14 | g.91297372A>T | CA390618252 | CCDC88C | c.3899T>A (p.Phe1300Tyr) c.3791T>A (p.Phe1264Tyr) n.4027T>A c.980T>A (p.Phe327Tyr) n.4025T>A | |
14 | g.91297373A>C | CA390618255 | CCDC88C | c.3898T>G (p.Phe1300Val) c.3790T>G (p.Phe1264Val) n.4026T>G c.979T>G (p.Phe327Val) n.4024T>G | |
14 | g.91297373A>G | CA390618256 | CCDC88C | c.3898T>C (p.Phe1300Leu) c.3790T>C (p.Phe1264Leu) n.4026T>C c.979T>C (p.Phe327Leu) n.4024T>C | gnomAD v4 |
14 | g.91297373A>T | CA390618257 | CCDC88C | c.3898T>A (p.Phe1300Ile) c.3790T>A (p.Phe1264Ile) n.4026T>A c.979T>A (p.Phe327Ile) n.4024T>A | |
14 | g.91297374G>A | CA487547085 | CCDC88C | c.3897C>T (p.Arg1299=) c.3789C>T (p.Arg1263=) n.4025C>T c.978C>T (p.Arg326=) n.4023C>T | |
14 | g.91297374G>C | CA487547087 | CCDC88C | c.3897C>G (p.Arg1299=) c.3789C>G (p.Arg1263=) n.4025C>G c.978C>G (p.Arg326=) n.4023C>G | |
14 | g.91297374G>T | CA487547090 | CCDC88C | c.3897C>A (p.Arg1299=) c.3789C>A (p.Arg1263=) n.4025C>A c.978C>A (p.Arg326=) n.4023C>A | |
14 | g.91297375_91297388del | CA2626129430 | CCDC88C | c.3884_3897del (p.Arg1295LeufsTer23) c.3776_3789del (p.Arg1259LeufsTer23) n.4012_4025del c.965_978del (p.Arg322LeufsTer23) n.4010_4023del | gnomAD v4 |
14 | g.91297375C>A | CA7309191 | CCDC88C | c.3896G>T (p.Arg1299Leu) c.3788G>T (p.Arg1263Leu) n.4024G>T c.977G>T (p.Arg326Leu) n.4022G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91297375C= | CA2154888602 | CCDC88C | c.3896G= (p.Arg1299=) c.3788G= (p.Arg1263=) n.4024G= c.977G= (p.Arg326=) n.4022G= | |
14 | g.91297375C>G | CA390618258 | CCDC88C | c.3896G>C (p.Arg1299Pro) c.3788G>C (p.Arg1263Pro) n.4024G>C c.977G>C (p.Arg326Pro) n.4022G>C | dbSNP |
14 | g.91297375C>T | CA7309190 | CCDC88C | c.3896G>A (p.Arg1299His) c.3788G>A (p.Arg1263His) n.4024G>A c.977G>A (p.Arg326His) n.4022G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91297376G>A | CA7309192 | CCDC88C | c.3895C>T (p.Arg1299Cys) c.3787C>T (p.Arg1263Cys) n.4023C>T c.976C>T (p.Arg326Cys) n.4021C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91297376G>C | CA390618260 | CCDC88C | c.3895C>G (p.Arg1299Gly) c.3787C>G (p.Arg1263Gly) n.4023C>G c.976C>G (p.Arg326Gly) n.4021C>G | |
14 | g.91297376G= | CA2154888614 | CCDC88C | c.3895C= (p.Arg1299=) c.3787C= (p.Arg1263=) n.4023C= c.976C= (p.Arg326=) n.4021C= | |
14 | g.91297376G>T | CA390618261 | CCDC88C | c.3895C>A (p.Arg1299Ser) c.3787C>A (p.Arg1263Ser) n.4023C>A c.976C>A (p.Arg326Ser) n.4021C>A | gnomAD v4 |
14 | g.91297377G>A | CA487547103 | CCDC88C | c.3894C>T (p.Ala1298=) c.3786C>T (p.Ala1262=) n.4022C>T c.975C>T (p.Ala325=) n.4020C>T | |
14 | g.91297377G>C | CA487547105 | CCDC88C | c.3894C>G (p.Ala1298=) c.3786C>G (p.Ala1262=) n.4022C>G c.975C>G (p.Ala325=) n.4020C>G | |
14 | g.91297377G>T | CA487547107 | CCDC88C | c.3894C>A (p.Ala1298=) c.3786C>A (p.Ala1262=) n.4022C>A c.975C>A (p.Ala325=) n.4020C>A | |
14 | g.91297378G>A | CA390618265 | CCDC88C | c.3893C>T (p.Ala1298Val) c.3785C>T (p.Ala1262Val) n.4021C>T c.974C>T (p.Ala325Val) n.4019C>T | ClinVar dbSNP gnomAD v4 |
14 | g.91297378G>C | CA7309193 | CCDC88C | c.3893C>G (p.Ala1298Gly) c.3785C>G (p.Ala1262Gly) n.4021C>G c.974C>G (p.Ala325Gly) n.4019C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91297378G= | CA2154888619 | CCDC88C | c.3893C= (p.Ala1298=) c.3785C= (p.Ala1262=) n.4021C= c.974C= (p.Ala325=) n.4019C= | |
14 | g.91297378G>T | CA390618264 | CCDC88C | c.3893C>A (p.Ala1298Asp) c.3785C>A (p.Ala1262Asp) n.4021C>A c.974C>A (p.Ala325Asp) n.4019C>A | |
14 | g.91297379C>A | CA390618267 | CCDC88C | c.3892G>T (p.Ala1298Ser) c.3784G>T (p.Ala1262Ser) n.4020G>T c.973G>T (p.Ala325Ser) n.4018G>T | |
14 | g.91297379C>G | CA390618269 | CCDC88C | c.3892G>C (p.Ala1298Pro) c.3784G>C (p.Ala1262Pro) n.4020G>C c.973G>C (p.Ala325Pro) n.4018G>C | |
14 | g.91297379C>T | CA390618271 | CCDC88C | c.3892G>A (p.Ala1298Thr) c.3784G>A (p.Ala1262Thr) n.4020G>A c.973G>A (p.Ala325Thr) n.4018G>A | gnomAD v4 |
14 | g.91297380C>A | CA390618273 | CCDC88C | c.3891G>T (p.Gln1297His) c.3783G>T (p.Gln1261His) n.4019G>T c.972G>T (p.Gln324His) n.4017G>T | |
14 | g.91297380C>G | CA390618275 | CCDC88C | c.3891G>C (p.Gln1297His) c.3783G>C (p.Gln1261His) n.4019G>C c.972G>C (p.Gln324His) n.4017G>C | |
14 | g.91297380C>T | CA487547117 | CCDC88C | c.3891G>A (p.Gln1297=) c.3783G>A (p.Gln1261=) n.4019G>A c.972G>A (p.Gln324=) n.4017G>A | |
14 | g.91297381T>A | CA390618281 | CCDC88C | c.3890A>T (p.Gln1297Leu) c.3782A>T (p.Gln1261Leu) n.4018A>T c.971A>T (p.Gln324Leu) n.4016A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.91297381T>C | CA390618280 | CCDC88C | c.3890A>G (p.Gln1297Arg) c.3782A>G (p.Gln1261Arg) n.4018A>G c.971A>G (p.Gln324Arg) n.4016A>G | COSMIC COSMIC |
14 | g.91297381T>G | CA390618277 | CCDC88C | c.3890A>C (p.Gln1297Pro) c.3782A>C (p.Gln1261Pro) n.4018A>C c.971A>C (p.Gln324Pro) n.4016A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91297381T= | CA2154888630 | CCDC88C | c.3890A= (p.Gln1297=) c.3782A= (p.Gln1261=) n.4018A= c.971A= (p.Gln324=) n.4016A= | |
14 | g.91297382G>A | CA390618284 | CCDC88C | c.3889C>T (p.Gln1297Ter) c.3781C>T (p.Gln1261Ter) n.4017C>T c.970C>T (p.Gln324Ter) n.4015C>T | dbSNP gnomAD v2 |
14 | g.91297382G>C | CA390618285 | CCDC88C | c.3889C>G (p.Gln1297Glu) c.3781C>G (p.Gln1261Glu) n.4017C>G c.970C>G (p.Gln324Glu) n.4015C>G | |
14 | g.91297382G= | CA2154888637 | CCDC88C | c.3889C= (p.Gln1297=) c.3781C= (p.Gln1261=) n.4017C= c.970C= (p.Gln324=) n.4015C= | |
14 | g.91297382G>T | CA390618287 | CCDC88C | c.3889C>A (p.Gln1297Lys) c.3781C>A (p.Gln1261Lys) n.4017C>A c.970C>A (p.Gln324Lys) n.4015C>A | |
14 | g.91297383C>A | CA390618289 | CCDC88C | c.3888G>T (p.Trp1296Cys) c.3780G>T (p.Trp1260Cys) n.4016G>T c.969G>T (p.Trp323Cys) n.4014G>T | |
14 | g.91297383C>G | CA390618290 | CCDC88C | c.3888G>C (p.Trp1296Cys) c.3780G>C (p.Trp1260Cys) n.4016G>C c.969G>C (p.Trp323Cys) n.4014G>C | |
14 | g.91297383C>T | CA390618291 | CCDC88C | c.3888G>A (p.Trp1296Ter) c.3780G>A (p.Trp1260Ter) n.4016G>A c.969G>A (p.Trp323Ter) n.4014G>A | |
14 | g.91297384C>A | CA390618292 | CCDC88C | c.3887G>T (p.Trp1296Leu) c.3779G>T (p.Trp1260Leu) n.4015G>T c.968G>T (p.Trp323Leu) n.4013G>T | |
14 | g.91297384C>G | CA390618294 | CCDC88C | c.3887G>C (p.Trp1296Ser) c.3779G>C (p.Trp1260Ser) n.4015G>C c.968G>C (p.Trp323Ser) n.4013G>C | |
14 | g.91297384C>T | CA390618293 | CCDC88C | c.3887G>A (p.Trp1296Ter) c.3779G>A (p.Trp1260Ter) n.4015G>A c.968G>A (p.Trp323Ter) n.4013G>A | ClinVar |