UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.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 |
| 14 | g.91297385A= | CA2154888644 | CCDC88C | c.3886T= (p.Trp1296=) c.3778T= (p.Trp1260=) n.4014T= c.967T= (p.Trp323=) n.4012T= | |
| 14 | g.91297385A>C | CA390618295 | CCDC88C | c.3886T>G (p.Trp1296Gly) c.3778T>G (p.Trp1260Gly) n.4014T>G c.967T>G (p.Trp323Gly) n.4012T>G | |
| 14 | g.91297385A>G | CA390618297 | CCDC88C | c.3886T>C (p.Trp1296Arg) c.3778T>C (p.Trp1260Arg) n.4014T>C c.967T>C (p.Trp323Arg) n.4012T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91297385A>T | CA390618298 | CCDC88C | c.3886T>A (p.Trp1296Arg) c.3778T>A (p.Trp1260Arg) n.4014T>A c.967T>A (p.Trp323Arg) n.4012T>A | |
| 14 | g.91297386G>A | CA487547141 | CCDC88C | c.3885C>T (p.Arg1295=) c.3777C>T (p.Arg1259=) n.4013C>T c.966C>T (p.Arg322=) n.4011C>T | |
| 14 | g.91297386G>C | CA487547145 | CCDC88C | c.3885C>G (p.Arg1295=) c.3777C>G (p.Arg1259=) n.4013C>G c.966C>G (p.Arg322=) n.4011C>G | |
| 14 | g.91297386G>T | CA487547147 | CCDC88C | c.3885C>A (p.Arg1295=) c.3777C>A (p.Arg1259=) n.4013C>A c.966C>A (p.Arg322=) n.4011C>A | |
| 14 | g.91297387C>A | CA390618301 | CCDC88C | c.3884G>T (p.Arg1295Leu) c.3776G>T (p.Arg1259Leu) n.4012G>T c.965G>T (p.Arg322Leu) n.4010G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91297387C= | CA2154888653 | CCDC88C | c.3884G= (p.Arg1295=) c.3776G= (p.Arg1259=) n.4012G= c.965G= (p.Arg322=) n.4010G= | |
| 14 | g.91297387C>G | CA390618303 | CCDC88C | c.3884G>C (p.Arg1295Pro) c.3776G>C (p.Arg1259Pro) n.4012G>C c.965G>C (p.Arg322Pro) n.4010G>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91297387C>T | CA390618304 | CCDC88C | c.3884G>A (p.Arg1295His) c.3776G>A (p.Arg1259His) n.4012G>A c.965G>A (p.Arg322His) n.4010G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91297388G>A | CA7309194 | CCDC88C | c.3883C>T (p.Arg1295Cys) c.3775C>T (p.Arg1259Cys) n.4011C>T c.964C>T (p.Arg322Cys) n.4009C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91297388G>C | CA390618307 | CCDC88C | c.3883C>G (p.Arg1295Gly) c.3775C>G (p.Arg1259Gly) n.4011C>G c.964C>G (p.Arg322Gly) n.4009C>G | dbSNP |
| 14 | g.91297388G= | CA2154888656 | CCDC88C | c.3883C= (p.Arg1295=) c.3775C= (p.Arg1259=) n.4011C= c.964C= (p.Arg322=) n.4009C= | |
| 14 | g.91297388G>T | CA390618308 | CCDC88C | c.3883C>A (p.Arg1295Ser) c.3775C>A (p.Arg1259Ser) n.4011C>A c.964C>A (p.Arg322Ser) n.4009C>A | gnomAD v4 |
| 14 | g.91297389G>A | CA487547161 | CCDC88C | c.3882C>T (p.Asn1294=) c.3774C>T (p.Asn1258=) n.4010C>T c.963C>T (p.Asn321=) n.4008C>T | ClinVar dbSNP |
| 14 | g.91297389G>C | CA390618310 | CCDC88C | c.3882C>G (p.Asn1294Lys) c.3774C>G (p.Asn1258Lys) n.4010C>G c.963C>G (p.Asn321Lys) n.4008C>G | |
| 14 | g.91297389G= | CA2154888659 | CCDC88C | c.3882C= (p.Asn1294=) c.3774C= (p.Asn1258=) n.4010C= c.963C= (p.Asn321=) n.4008C= | |
| 14 | g.91297389G>T | CA390618312 | CCDC88C | c.3882C>A (p.Asn1294Lys) c.3774C>A (p.Asn1258Lys) n.4010C>A c.963C>A (p.Asn321Lys) n.4008C>A | |
| 14 | g.91297390T>A | CA390618315 | CCDC88C | c.3881A>T (p.Asn1294Ile) c.3773A>T (p.Asn1258Ile) n.4009A>T c.962A>T (p.Asn321Ile) n.4007A>T | |
| 14 | g.91297390T>C | CA390618313 | CCDC88C | c.3881A>G (p.Asn1294Ser) c.3773A>G (p.Asn1258Ser) n.4009A>G c.962A>G (p.Asn321Ser) n.4007A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91297390T>G | CA7309195 | CCDC88C | c.3881A>C (p.Asn1294Thr) c.3773A>C (p.Asn1258Thr) n.4009A>C c.962A>C (p.Asn321Thr) n.4007A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91297390T= | CA2154888662 | CCDC88C | c.3881A= (p.Asn1294=) c.3773A= (p.Asn1258=) n.4009A= c.962A= (p.Asn321=) n.4007A= | |
| 14 | g.91297391T>A | CA390618317 | CCDC88C | c.3880A>T (p.Asn1294Tyr) c.3772A>T (p.Asn1258Tyr) n.4008A>T c.961A>T (p.Asn321Tyr) n.4006A>T | |
| 14 | g.91297391T>C | CA390618321 | CCDC88C | c.3880A>G (p.Asn1294Asp) c.3772A>G (p.Asn1258Asp) n.4008A>G c.961A>G (p.Asn321Asp) n.4006A>G | |
| 14 | g.91297391T>G | CA390618319 | CCDC88C | c.3880A>C (p.Asn1294His) c.3772A>C (p.Asn1258His) n.4008A>C c.961A>C (p.Asn321His) n.4006A>C | gnomAD v4 |
| 14 | g.91297392G>A | CA487547173 | CCDC88C | c.3879C>T (p.Leu1293=) c.3771C>T (p.Leu1257=) n.4007C>T c.960C>T (p.Leu320=) n.4005C>T | |
| 14 | g.91297392G>C | CA487547176 | CCDC88C | c.3879C>G (p.Leu1293=) c.3771C>G (p.Leu1257=) n.4007C>G c.960C>G (p.Leu320=) n.4005C>G | |
| 14 | g.91297392G>T | CA487547179 | CCDC88C | c.3879C>A (p.Leu1293=) c.3771C>A (p.Leu1257=) n.4007C>A c.960C>A (p.Leu320=) n.4005C>A | gnomAD v4 |
| 14 | g.91297393A= | CA2154888666 | CCDC88C | c.3878T= (p.Leu1293=) c.3770T= (p.Leu1257=) n.4006T= c.959T= (p.Leu320=) n.4004T= | |
| 14 | g.91297393A>C | CA390618323 | CCDC88C | c.3878T>G (p.Leu1293Arg) c.3770T>G (p.Leu1257Arg) n.4006T>G c.959T>G (p.Leu320Arg) n.4004T>G | dbSNP |
| 14 | g.91297393A>G | CA390618328 | CCDC88C | c.3878T>C (p.Leu1293Pro) c.3770T>C (p.Leu1257Pro) n.4006T>C c.959T>C (p.Leu320Pro) n.4004T>C | |
| 14 | g.91297393A>T | CA390618326 | CCDC88C | c.3878T>A (p.Leu1293His) c.3770T>A (p.Leu1257His) n.4006T>A c.959T>A (p.Leu320His) n.4004T>A | |
| 14 | g.91297394G>A | CA390618329 | CCDC88C | c.3877C>T (p.Leu1293Phe) c.3769C>T (p.Leu1257Phe) n.4005C>T c.958C>T (p.Leu320Phe) n.4003C>T | |
| 14 | g.91297394G>C | CA390618331 | CCDC88C | c.3877C>G (p.Leu1293Val) c.3769C>G (p.Leu1257Val) n.4005C>G c.958C>G (p.Leu320Val) n.4003C>G | gnomAD v4 |
| 14 | g.91297394G>T | CA390618330 | CCDC88C | c.3877C>A (p.Leu1293Ile) c.3769C>A (p.Leu1257Ile) n.4005C>A c.958C>A (p.Leu320Ile) n.4003C>A | |
| 14 | g.91297395C>A | CA390618332 | CCDC88C | c.3876G>T (p.Glu1292Asp) c.3768G>T (p.Glu1256Asp) n.4004G>T c.957G>T (p.Glu319Asp) n.4002G>T | |
| 14 | g.91297395C= | CA2154888671 | CCDC88C | c.3876G= (p.Glu1292=) c.3768G= (p.Glu1256=) n.4004G= c.957G= (p.Glu319=) n.4002G= | |
| 14 | g.91297395C>G | CA390618333 | CCDC88C | c.3876G>C (p.Glu1292Asp) c.3768G>C (p.Glu1256Asp) n.4004G>C c.957G>C (p.Glu319Asp) n.4002G>C | |
| 14 | g.91297395C>T | CA487547192 | CCDC88C | c.3876G>A (p.Glu1292=) c.3768G>A (p.Glu1256=) n.4004G>A c.957G>A (p.Glu319=) n.4002G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91297396T>A | CA390618334 | CCDC88C | c.3875A>T (p.Glu1292Val) c.3767A>T (p.Glu1256Val) n.4003A>T c.956A>T (p.Glu319Val) n.4001A>T | |
| 14 | g.91297396T>C | CA390618335 | CCDC88C | c.3875A>G (p.Glu1292Gly) c.3767A>G (p.Glu1256Gly) n.4003A>G c.956A>G (p.Glu319Gly) n.4001A>G | |
| 14 | g.91297396T>G | CA390618337 | CCDC88C | c.3875A>C (p.Glu1292Ala) c.3767A>C (p.Glu1256Ala) n.4003A>C c.956A>C (p.Glu319Ala) n.4001A>C | |
| 14 | g.91297397C>A | CA390618338 | CCDC88C | c.3874G>T (p.Glu1292Ter) c.3766G>T (p.Glu1256Ter) n.4002G>T c.955G>T (p.Glu319Ter) n.4000G>T | dbSNP |
| 14 | g.91297397C= | CA2154888675 | CCDC88C | c.3874G= (p.Glu1292=) c.3766G= (p.Glu1256=) n.4002G= c.955G= (p.Glu319=) n.4000G= | |
| 14 | g.91297397C>G | CA390618340 | CCDC88C | c.3874G>C (p.Glu1292Gln) c.3766G>C (p.Glu1256Gln) n.4002G>C c.955G>C (p.Glu319Gln) n.4000G>C | |
| 14 | g.91297397C>T | CA390618341 | CCDC88C | c.3874G>A (p.Glu1292Lys) c.3766G>A (p.Glu1256Lys) n.4002G>A c.955G>A (p.Glu319Lys) n.4000G>A | COSMIC COSMIC |
| 14 | g.91297398C>A | CA487547207 | CCDC88C | c.3873G>T (p.Leu1291=) c.3765G>T (p.Leu1255=) n.4001G>T c.954G>T (p.Leu318=) n.3999G>T | |
| 14 | g.91297398C>G | CA487547208 | CCDC88C | c.3873G>C (p.Leu1291=) c.3765G>C (p.Leu1255=) n.4001G>C c.954G>C (p.Leu318=) n.3999G>C | |
| 14 | g.91297398C>T | CA487547210 | CCDC88C | c.3873G>A (p.Leu1291=) c.3765G>A (p.Leu1255=) n.4001G>A c.954G>A (p.Leu318=) n.3999G>A | |
| 14 | g.91297399A>C | CA390618343 | CCDC88C | c.3872T>G (p.Leu1291Arg) c.3764T>G (p.Leu1255Arg) n.4000T>G c.953T>G (p.Leu318Arg) n.3998T>G | |
| 14 | g.91297399A>G | CA390618345 | CCDC88C | c.3872T>C (p.Leu1291Pro) c.3764T>C (p.Leu1255Pro) n.4000T>C c.953T>C (p.Leu318Pro) n.3998T>C | |
| 14 | g.91297399A>T | CA390618347 | CCDC88C | c.3872T>A (p.Leu1291Gln) c.3764T>A (p.Leu1255Gln) n.4000T>A c.953T>A (p.Leu318Gln) n.3998T>A | |
| 14 | g.91297400G>A | CA487547218 | CCDC88C | c.3871C>T (p.Leu1291=) c.3763C>T (p.Leu1255=) n.3999C>T c.952C>T (p.Leu318=) n.3997C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.91297400G>C | CA390618351 | CCDC88C | c.3871C>G (p.Leu1291Val) c.3763C>G (p.Leu1255Val) n.3999C>G c.952C>G (p.Leu318Val) n.3997C>G | gnomAD v4 |
| 14 | g.91297400G= | CA2154888677 | CCDC88C | c.3871C= (p.Leu1291=) c.3763C= (p.Leu1255=) n.3999C= c.952C= (p.Leu318=) n.3997C= | |
| 14 | g.91297400G>T | CA390618349 | CCDC88C | c.3871C>A (p.Leu1291Met) c.3763C>A (p.Leu1255Met) n.3999C>A c.952C>A (p.Leu318Met) n.3997C>A | |
| 14 | g.91297401C>A | CA390618354 | CCDC88C | c.3870G>T (p.Gln1290His) c.3762G>T (p.Gln1254His) n.3998G>T c.951G>T (p.Gln317His) n.3996G>T | |
| 14 | g.91297401C= | CA2154888680 | CCDC88C | c.3870G= (p.Gln1290=) c.3762G= (p.Gln1254=) n.3998G= c.951G= (p.Gln317=) n.3996G= | |
| 14 | g.91297401C>G | CA390618355 | CCDC88C | c.3870G>C (p.Gln1290His) c.3762G>C (p.Gln1254His) n.3998G>C c.951G>C (p.Gln317His) n.3996G>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91297401C>T | CA487547226 | CCDC88C | c.3870G>A (p.Gln1290=) c.3762G>A (p.Gln1254=) n.3998G>A c.951G>A (p.Gln317=) n.3996G>A | dbSNP gnomAD v4 |
| 14 | g.91297402T>A | CA390618357 | CCDC88C | c.3869A>T (p.Gln1290Leu) c.3761A>T (p.Gln1254Leu) n.3997A>T c.950A>T (p.Gln317Leu) n.3995A>T | |
| 14 | g.91297402T>C | CA390618359 | CCDC88C | c.3869A>G (p.Gln1290Arg) c.3761A>G (p.Gln1254Arg) n.3997A>G c.950A>G (p.Gln317Arg) n.3995A>G | gnomAD v4 |
| 14 | g.91297402T>G | CA390618361 | CCDC88C | c.3869A>C (p.Gln1290Pro) c.3761A>C (p.Gln1254Pro) n.3997A>C c.950A>C (p.Gln317Pro) n.3995A>C | |
| 14 | g.91297403G>A | CA390618362 | CCDC88C | c.3868C>T (p.Gln1290Ter) c.3760C>T (p.Gln1254Ter) n.3996C>T c.949C>T (p.Gln317Ter) n.3994C>T | |
| 14 | g.91297403G>C | CA390618363 | CCDC88C | c.3868C>G (p.Gln1290Glu) c.3760C>G (p.Gln1254Glu) n.3996C>G c.949C>G (p.Gln317Glu) n.3994C>G | |
| 14 | g.91297403G>T | CA390618365 | CCDC88C | c.3868C>A (p.Gln1290Lys) c.3760C>A (p.Gln1254Lys) n.3996C>A c.949C>A (p.Gln317Lys) n.3994C>A | |
| 14 | g.91297404C>A | CA487547242 | CCDC88C | c.3867G>T (p.Ala1289=) c.3759G>T (p.Ala1253=) n.3995G>T c.948G>T (p.Ala316=) n.3993G>T | ClinVar |
| 14 | g.91297404C= | CA2154888683 | CCDC88C | c.3867G= (p.Ala1289=) c.3759G= (p.Ala1253=) n.3995G= c.948G= (p.Ala316=) n.3993G= | |
| 14 | g.91297404C>G | CA487547245 | CCDC88C | c.3867G>C (p.Ala1289=) c.3759G>C (p.Ala1253=) n.3995G>C c.948G>C (p.Ala316=) n.3993G>C | |
| 14 | g.91297404C>T | CA7309196 | CCDC88C | c.3867G>A (p.Ala1289=) c.3759G>A (p.Ala1253=) n.3995G>A c.948G>A (p.Ala316=) n.3993G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91297405G>A | CA7309197 | CCDC88C | c.3866C>T (p.Ala1289Val) c.3758C>T (p.Ala1253Val) n.3994C>T c.947C>T (p.Ala316Val) n.3992C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.91297405G>C | CA390618368 | CCDC88C | c.3866C>G (p.Ala1289Gly) c.3758C>G (p.Ala1253Gly) n.3994C>G c.947C>G (p.Ala316Gly) n.3992C>G | |
| 14 | g.91297405G= | CA2154888686 | CCDC88C | c.3866C= (p.Ala1289=) c.3758C= (p.Ala1253=) n.3994C= c.947C= (p.Ala316=) n.3992C= | |
| 14 | g.91297405G>T | CA390618369 | CCDC88C | c.3866C>A (p.Ala1289Glu) c.3758C>A (p.Ala1253Glu) n.3994C>A c.947C>A (p.Ala316Glu) n.3992C>A | |
| 14 | g.91297406C>A | CA390618371 | CCDC88C | c.3865G>T (p.Ala1289Ser) c.3757G>T (p.Ala1253Ser) n.3993G>T c.946G>T (p.Ala316Ser) n.3991G>T | dbSNP |
| 14 | g.91297406C= | CA2154888691 | CCDC88C | c.3865G= (p.Ala1289=) c.3757G= (p.Ala1253=) n.3993G= c.946G= (p.Ala316=) n.3991G= | |
| 14 | g.91297406C>G | CA390618370 | CCDC88C | c.3865G>C (p.Ala1289Pro) c.3757G>C (p.Ala1253Pro) n.3993G>C c.946G>C (p.Ala316Pro) n.3991G>C | |
| 14 | g.91297406C>T | CA7309198 | CCDC88C | c.3865G>A (p.Ala1289Thr) c.3757G>A (p.Ala1253Thr) n.3993G>A c.946G>A (p.Ala316Thr) n.3991G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91297407G>A | CA7309199 | CCDC88C | c.3864C>T (p.Asn1288=) c.3756C>T (p.Asn1252=) n.3992C>T c.945C>T (p.Asn315=) n.3990C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91297407G>C | CA265548699 | CCDC88C | c.3864C>G (p.Asn1288Lys) c.3756C>G (p.Asn1252Lys) n.3992C>G c.945C>G (p.Asn315Lys) n.3990C>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91297407G= | CA2154888700 | CCDC88C | c.3864C= (p.Asn1288=) c.3756C= (p.Asn1252=) n.3992C= c.945C= (p.Asn315=) n.3990C= | |
| 14 | g.91297407G>T | CA390618372 | CCDC88C | c.3864C>A (p.Asn1288Lys) c.3756C>A (p.Asn1252Lys) n.3992C>A c.945C>A (p.Asn315Lys) n.3990C>A | |
| 14 | g.91297410_91297412del | CA487547255 | CCDC88C | c.3862_3864del (p.Asn1288del) c.3754_3756del (p.Asn1252del) n.3990_3992del c.943_945del (p.Asn315del) n.3988_3990del | |
| 14 | g.91297408T>A | CA390618375 | CCDC88C | c.3863A>T (p.Asn1288Ile) c.3755A>T (p.Asn1252Ile) n.3991A>T c.944A>T (p.Asn315Ile) n.3989A>T | |
| 14 | g.91297408T>C | CA390618378 | CCDC88C | c.3863A>G (p.Asn1288Ser) c.3755A>G (p.Asn1252Ser) n.3991A>G c.944A>G (p.Asn315Ser) n.3989A>G | gnomAD v4 |
| 14 | g.91297408T>G | CA390618379 | CCDC88C | c.3863A>C (p.Asn1288Thr) c.3755A>C (p.Asn1252Thr) n.3991A>C c.944A>C (p.Asn315Thr) n.3989A>C | |
| 14 | g.91297409T>A | CA390618382 | CCDC88C | c.3862A>T (p.Asn1288Tyr) c.3754A>T (p.Asn1252Tyr) n.3990A>T c.943A>T (p.Asn315Tyr) n.3988A>T | |
| 14 | g.91297409T>C | CA390618384 | CCDC88C | c.3862A>G (p.Asn1288Asp) c.3754A>G (p.Asn1252Asp) n.3990A>G c.943A>G (p.Asn315Asp) n.3988A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91297409T>G | CA390618391 | CCDC88C | c.3862A>C (p.Asn1288His) c.3754A>C (p.Asn1252His) n.3990A>C c.943A>C (p.Asn315His) n.3988A>C | |
| 14 | g.91297409T= | CA2154888709 | CCDC88C | c.3862A= (p.Asn1288=) c.3754A= (p.Asn1252=) n.3990A= c.943A= (p.Asn315=) n.3988A= | |
| 14 | g.91297410G>A | CA487547268 | CCDC88C | c.3861C>T (p.Asn1287=) c.3753C>T (p.Asn1251=) n.3989C>T c.942C>T (p.Asn314=) n.3987C>T | |
| 14 | g.91297410G>C | CA390618393 | CCDC88C | c.3861C>G (p.Asn1287Lys) c.3753C>G (p.Asn1251Lys) n.3989C>G c.942C>G (p.Asn314Lys) n.3987C>G | |
| 14 | g.91297410G>T | CA390618394 | CCDC88C | c.3861C>A (p.Asn1287Lys) c.3753C>A (p.Asn1251Lys) n.3989C>A c.942C>A (p.Asn314Lys) n.3987C>A | gnomAD v4 |
| 14 | g.91297411T>A | CA390618397 | CCDC88C | c.3860A>T (p.Asn1287Ile) c.3752A>T (p.Asn1251Ile) n.3988A>T c.941A>T (p.Asn314Ile) n.3986A>T | |
| 14 | g.91297411T>C | CA390618398 | CCDC88C | c.3860A>G (p.Asn1287Ser) c.3752A>G (p.Asn1251Ser) n.3988A>G c.941A>G (p.Asn314Ser) n.3986A>G | |
| 14 | g.91297411T>G | CA390618400 | CCDC88C | c.3860A>C (p.Asn1287Thr) c.3752A>C (p.Asn1251Thr) n.3988A>C c.941A>C (p.Asn314Thr) n.3986A>C | dbSNP |
| 14 | g.91297411T= | CA2154888713 | CCDC88C | c.3860A= (p.Asn1287=) c.3752A= (p.Asn1251=) n.3988A= c.941A= (p.Asn314=) n.3986A= | |
| 14 | g.91297416_91297427del | CA2626129477 | CCDC88C | c.3849_3860del (p.Lys1283_Leu1286del) c.3741_3752del (p.Lys1247_Leu1250del) n.3977_3988del c.930_941del (p.Lys310_Leu313del) n.3975_3986del | gnomAD v4 |
| 14 | g.91297412T>A | CA390618406 | CCDC88C | c.3859A>T (p.Asn1287Tyr) c.3751A>T (p.Asn1251Tyr) n.3987A>T c.940A>T (p.Asn314Tyr) n.3985A>T | |
| 14 | g.91297412T>C | CA390618402 | CCDC88C | c.3859A>G (p.Asn1287Asp) c.3751A>G (p.Asn1251Asp) n.3987A>G c.940A>G (p.Asn314Asp) n.3985A>G | |
| 14 | g.91297412T>G | CA390618404 | CCDC88C | c.3859A>C (p.Asn1287His) c.3751A>C (p.Asn1251His) n.3987A>C c.940A>C (p.Asn314His) n.3985A>C | |
| 14 | g.91297413C>A | CA487547287 | CCDC88C | c.3858G>T (p.Leu1286=) c.3750G>T (p.Leu1250=) n.3986G>T c.939G>T (p.Leu313=) n.3984G>T | |
| 14 | g.91297413C>G | CA487547290 | CCDC88C | c.3858G>C (p.Leu1286=) c.3750G>C (p.Leu1250=) n.3986G>C c.939G>C (p.Leu313=) n.3984G>C | |
| 14 | g.91297413C>T | CA487547293 | CCDC88C | c.3858G>A (p.Leu1286=) c.3750G>A (p.Leu1250=) n.3986G>A c.939G>A (p.Leu313=) n.3984G>A | gnomAD v4 |
| 14 | g.91297414A>C | CA390618408 | CCDC88C | c.3857T>G (p.Leu1286Arg) c.3749T>G (p.Leu1250Arg) n.3985T>G c.938T>G (p.Leu313Arg) n.3983T>G | |
| 14 | g.91297414A>G | CA390618410 | CCDC88C | c.3857T>C (p.Leu1286Pro) c.3749T>C (p.Leu1250Pro) n.3985T>C c.938T>C (p.Leu313Pro) n.3983T>C | gnomAD v4 |
| 14 | g.91297414A>T | CA390618411 | CCDC88C | c.3857T>A (p.Leu1286Gln) c.3749T>A (p.Leu1250Gln) n.3985T>A c.938T>A (p.Leu313Gln) n.3983T>A | |
| 14 | g.91297415G>A | CA487547301 | CCDC88C | c.3856C>T (p.Leu1286=) c.3748C>T (p.Leu1250=) n.3984C>T c.937C>T (p.Leu313=) n.3982C>T | |
| 14 | g.91297415G>C | CA390618414 | CCDC88C | c.3856C>G (p.Leu1286Val) c.3748C>G (p.Leu1250Val) n.3984C>G c.937C>G (p.Leu313Val) n.3982C>G | |
| 14 | g.91297415G>T | CA390618416 | CCDC88C | c.3856C>A (p.Leu1286Met) c.3748C>A (p.Leu1250Met) n.3984C>A c.937C>A (p.Leu313Met) n.3982C>A | |
| 14 | g.91297416T>A | CA487547308 | CCDC88C | c.3855A>T (p.Ser1285=) c.3747A>T (p.Ser1249=) n.3983A>T c.936A>T (p.Ser312=) n.3981A>T | |
| 14 | g.91297416T>C | CA7309200 | CCDC88C | c.3855A>G (p.Ser1285=) c.3747A>G (p.Ser1249=) n.3983A>G c.936A>G (p.Ser312=) n.3981A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91297416T>G | CA487547313 | CCDC88C | c.3855A>C (p.Ser1285=) c.3747A>C (p.Ser1249=) n.3983A>C c.936A>C (p.Ser312=) n.3981A>C | |
| 14 | g.91297416T= | CA2154888717 | CCDC88C | c.3855A= (p.Ser1285=) c.3747A= (p.Ser1249=) n.3983A= c.936A= (p.Ser312=) n.3981A= | |
| 14 | g.91297417G>A | CA390618419 | CCDC88C | c.3854C>T (p.Ser1285Leu) c.3746C>T (p.Ser1249Leu) n.3982C>T c.935C>T (p.Ser312Leu) n.3980C>T | |
| 14 | g.91297417G>C | CA390618420 | CCDC88C | c.3854C>G (p.Ser1285Ter) c.3746C>G (p.Ser1249Ter) n.3982C>G c.935C>G (p.Ser312Ter) n.3980C>G | |
| 14 | g.91297417G>T | CA390618422 | CCDC88C | c.3854C>A (p.Ser1285Ter) c.3746C>A (p.Ser1249Ter) n.3982C>A c.935C>A (p.Ser312Ter) n.3980C>A | |
| 14 | g.91297418A>C | CA390618424 | CCDC88C | c.3853T>G (p.Ser1285Ala) c.3745T>G (p.Ser1249Ala) n.3981T>G c.934T>G (p.Ser312Ala) n.3979T>G | |
| 14 | g.91297418A>G | CA390618426 | CCDC88C | c.3853T>C (p.Ser1285Pro) c.3745T>C (p.Ser1249Pro) n.3981T>C c.934T>C (p.Ser312Pro) n.3979T>C | |
| 14 | g.91297418A>T | CA390618428 | CCDC88C | c.3853T>A (p.Ser1285Thr) c.3745T>A (p.Ser1249Thr) n.3981T>A c.934T>A (p.Ser312Thr) n.3979T>A | |
| 14 | g.91297419G>A | CA487547324 | CCDC88C | c.3852C>T (p.Thr1284=) c.3744C>T (p.Thr1248=) n.3980C>T c.933C>T (p.Thr311=) n.3978C>T | |
| 14 | g.91297419G>C | CA487547326 | CCDC88C | c.3852C>G (p.Thr1284=) c.3744C>G (p.Thr1248=) n.3980C>G c.933C>G (p.Thr311=) n.3978C>G | |
| 14 | g.91297419G>T | CA487547328 | CCDC88C | c.3852C>A (p.Thr1284=) c.3744C>A (p.Thr1248=) n.3980C>A c.933C>A (p.Thr311=) n.3978C>A | |
| 14 | g.91297420G>A | CA390618432 | CCDC88C | c.3851C>T (p.Thr1284Ile) c.3743C>T (p.Thr1248Ile) n.3979C>T c.932C>T (p.Thr311Ile) n.3977C>T | gnomAD v4 |
| 14 | g.91297420G>C | CA390618433 | CCDC88C | c.3851C>G (p.Thr1284Ser) c.3743C>G (p.Thr1248Ser) n.3979C>G c.932C>G (p.Thr311Ser) n.3977C>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91297420G= | CA2154888720 | CCDC88C | c.3851C= (p.Thr1284=) c.3743C= (p.Thr1248=) n.3979C= c.932C= (p.Thr311=) n.3977C= | |
| 14 | g.91297420G>T | CA390618430 | CCDC88C | c.3851C>A (p.Thr1284Asn) c.3743C>A (p.Thr1248Asn) n.3979C>A c.932C>A (p.Thr311Asn) n.3977C>A | |
| 14 | g.91297421T>A | CA390618435 | CCDC88C | c.3850A>T (p.Thr1284Ser) c.3742A>T (p.Thr1248Ser) n.3978A>T c.931A>T (p.Thr311Ser) n.3976A>T | |
| 14 | g.91297421T>C | CA390618436 | CCDC88C | c.3850A>G (p.Thr1284Ala) c.3742A>G (p.Thr1248Ala) n.3978A>G c.931A>G (p.Thr311Ala) n.3976A>G | |
| 14 | g.91297421T>G | CA390618438 | CCDC88C | c.3850A>C (p.Thr1284Pro) c.3742A>C (p.Thr1248Pro) n.3978A>C c.931A>C (p.Thr311Pro) n.3976A>C | |
| 14 | g.91297422T>A | CA390618440 | CCDC88C | c.3849A>T (p.Lys1283Asn) c.3741A>T (p.Lys1247Asn) n.3977A>T c.930A>T (p.Lys310Asn) n.3975A>T | |
| 14 | g.91297422T>C | CA487547338 | CCDC88C | c.3849A>G (p.Lys1283=) c.3741A>G (p.Lys1247=) n.3977A>G c.930A>G (p.Lys310=) n.3975A>G | |
| 14 | g.91297422T>G | CA390618442 | CCDC88C | c.3849A>C (p.Lys1283Asn) c.3741A>C (p.Lys1247Asn) n.3977A>C c.930A>C (p.Lys310Asn) n.3975A>C | |
| 14 | g.91297423T>A | CA390618444 | CCDC88C | c.3848A>T (p.Lys1283Ile) c.3740A>T (p.Lys1247Ile) n.3976A>T c.929A>T (p.Lys310Ile) n.3974A>T | |
| 14 | g.91297423T>C | CA390618446 | CCDC88C | c.3848A>G (p.Lys1283Arg) c.3740A>G (p.Lys1247Arg) n.3976A>G c.929A>G (p.Lys310Arg) n.3974A>G | |
| 14 | g.91297423T>G | CA390618447 | CCDC88C | c.3848A>C (p.Lys1283Thr) c.3740A>C (p.Lys1247Thr) n.3976A>C c.929A>C (p.Lys310Thr) n.3974A>C | |
| 14 | g.91297424T>A | CA390618450 | CCDC88C | c.3847A>T (p.Lys1283Ter) c.3739A>T (p.Lys1247Ter) n.3975A>T c.928A>T (p.Lys310Ter) n.3973A>T | |
| 14 | g.91297424T>C | CA390618451 | CCDC88C | c.3847A>G (p.Lys1283Glu) c.3739A>G (p.Lys1247Glu) n.3975A>G c.928A>G (p.Lys310Glu) n.3973A>G | gnomAD v4 |
| 14 | g.91297424T>G | CA390618453 | CCDC88C | c.3847A>C (p.Lys1283Gln) c.3739A>C (p.Lys1247Gln) n.3975A>C c.928A>C (p.Lys310Gln) n.3973A>C | |
| 14 | g.91297425C>A | CA487547356 | CCDC88C | c.3846G>T (p.Leu1282=) c.3738G>T (p.Leu1246=) n.3974G>T c.927G>T (p.Leu309=) n.3972G>T | |
| 14 | g.91297425C>G | CA487547361 | CCDC88C | c.3846G>C (p.Leu1282=) c.3738G>C (p.Leu1246=) n.3974G>C c.927G>C (p.Leu309=) n.3972G>C | |
| 14 | g.91297425C>T | CA487547358 | CCDC88C | c.3846G>A (p.Leu1282=) c.3738G>A (p.Leu1246=) n.3974G>A c.927G>A (p.Leu309=) n.3972G>A | ClinVar |
| 14 | g.91297426A= | CA2154888724 | CCDC88C | c.3845T= (p.Leu1282=) c.3737T= (p.Leu1246=) n.3973T= c.926T= (p.Leu309=) n.3971T= | |
| 14 | g.91297426A>C | CA390618456 | CCDC88C | c.3845T>G (p.Leu1282Arg) c.3737T>G (p.Leu1246Arg) n.3973T>G c.926T>G (p.Leu309Arg) n.3971T>G | |
| 14 | g.91297426A>G | CA390618457 | CCDC88C | c.3845T>C (p.Leu1282Pro) c.3737T>C (p.Leu1246Pro) n.3973T>C c.926T>C (p.Leu309Pro) n.3971T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91297426A>T | CA390618459 | CCDC88C | c.3845T>A (p.Leu1282Gln) c.3737T>A (p.Leu1246Gln) n.3973T>A c.926T>A (p.Leu309Gln) n.3971T>A | |
| 14 | g.91297427G>A | CA487547370 | CCDC88C | c.3844C>T (p.Leu1282=) c.3736C>T (p.Leu1246=) n.3972C>T c.925C>T (p.Leu309=) n.3970C>T | gnomAD v4 |
| 14 | g.91297427G>C | CA390618463 | CCDC88C | c.3844C>G (p.Leu1282Val) c.3736C>G (p.Leu1246Val) n.3972C>G c.925C>G (p.Leu309Val) n.3970C>G | |
| 14 | g.91297427G>T | CA390618461 | CCDC88C | c.3844C>A (p.Leu1282Met) c.3736C>A (p.Leu1246Met) n.3972C>A c.925C>A (p.Leu309Met) n.3970C>A | |
| 14 | g.91297428C>A | CA390618465 | CCDC88C | c.3843G>T (p.Glu1281Asp) c.3735G>T (p.Glu1245Asp) n.3971G>T c.924G>T (p.Glu308Asp) n.3969G>T | |
| 14 | g.91297428C= | CA2154888730 | CCDC88C | c.3843G= (p.Glu1281=) c.3735G= (p.Glu1245=) n.3971G= c.924G= (p.Glu308=) n.3969G= | |
| 14 | g.91297428C>G | CA390618466 | CCDC88C | c.3843G>C (p.Glu1281Asp) c.3735G>C (p.Glu1245Asp) n.3971G>C c.924G>C (p.Glu308Asp) n.3969G>C | |
| 14 | g.91297428C>T | CA487547384 | CCDC88C | c.3843G>A (p.Glu1281=) c.3735G>A (p.Glu1245=) n.3971G>A c.924G>A (p.Glu308=) n.3969G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91297429T>A | CA390618469 | CCDC88C | c.3842A>T (p.Glu1281Val) c.3734A>T (p.Glu1245Val) n.3970A>T c.923A>T (p.Glu308Val) n.3968A>T | |
| 14 | g.91297429T>C | CA390618470 | CCDC88C | c.3842A>G (p.Glu1281Gly) c.3734A>G (p.Glu1245Gly) n.3970A>G c.923A>G (p.Glu308Gly) n.3968A>G | |
| 14 | g.91297429T>G | CA390618472 | CCDC88C | c.3842A>C (p.Glu1281Ala) c.3734A>C (p.Glu1245Ala) n.3970A>C c.923A>C (p.Glu308Ala) n.3968A>C | |
| 14 | g.91297429dup | CA2697554120 | CCDC88C | c.3842dup (p.Leu1282AlafsTer?) c.3734dup (p.Leu1246AlafsTer?) n.3970dup c.923dup (p.Leu309AlafsTer?) n.3968dup | ClinVar |
| 14 | g.91297430C>A | CA390618474 | CCDC88C | c.3841G>T (p.Glu1281Ter) c.3733G>T (p.Glu1245Ter) n.3969G>T c.922G>T (p.Glu308Ter) n.3967G>T | |
| 14 | g.91297430C>G | CA390618476 | CCDC88C | c.3841G>C (p.Glu1281Gln) c.3733G>C (p.Glu1245Gln) n.3969G>C c.922G>C (p.Glu308Gln) n.3967G>C | |
| 14 | g.91297430C>T | CA390618478 | CCDC88C | c.3841G>A (p.Glu1281Lys) c.3733G>A (p.Glu1245Lys) n.3969G>A c.922G>A (p.Glu308Lys) n.3967G>A | |
| 14 | g.91297431C>A | CA390618479 | CCDC88C | c.3840G>T (p.Lys1280Asn) c.3732G>T (p.Lys1244Asn) n.3968G>T c.921G>T (p.Lys307Asn) n.3966G>T | |
| 14 | g.91297431C>G | CA390618481 | CCDC88C | c.3840G>C (p.Lys1280Asn) c.3732G>C (p.Lys1244Asn) n.3968G>C c.921G>C (p.Lys307Asn) n.3966G>C | |
| 14 | g.91297431C>T | CA487547408 | CCDC88C | c.3840G>A (p.Lys1280=) c.3732G>A (p.Lys1244=) n.3968G>A c.921G>A (p.Lys307=) n.3966G>A | gnomAD v4 |
| 14 | g.91297432T>A | CA390618484 | CCDC88C | c.3839A>T (p.Lys1280Met) c.3731A>T (p.Lys1244Met) n.3967A>T c.920A>T (p.Lys307Met) n.3965A>T | |
| 14 | g.91297432T>C | CA390618486 | CCDC88C | c.3839A>G (p.Lys1280Arg) c.3731A>G (p.Lys1244Arg) n.3967A>G c.920A>G (p.Lys307Arg) n.3965A>G | dbSNP gnomAD v2 |
| 14 | g.91297432T>G | CA390618487 | CCDC88C | c.3839A>C (p.Lys1280Thr) c.3731A>C (p.Lys1244Thr) n.3967A>C c.920A>C (p.Lys307Thr) n.3965A>C | |
| 14 | g.91297432T= | CA2154888732 | CCDC88C | c.3839A= (p.Lys1280=) c.3731A= (p.Lys1244=) n.3967A= c.920A= (p.Lys307=) n.3965A= | |
| 14 | g.91297433T>A | CA390618490 | CCDC88C | c.3838A>T (p.Lys1280Ter) c.3730A>T (p.Lys1244Ter) n.3966A>T c.919A>T (p.Lys307Ter) n.3964A>T | |
| 14 | g.91297433T>C | CA390618493 | CCDC88C | c.3838A>G (p.Lys1280Glu) c.3730A>G (p.Lys1244Glu) n.3966A>G c.919A>G (p.Lys307Glu) n.3964A>G | gnomAD v4 |
| 14 | g.91297433T>G | CA390618491 | CCDC88C | c.3838A>C (p.Lys1280Gln) c.3730A>C (p.Lys1244Gln) n.3966A>C c.919A>C (p.Lys307Gln) n.3964A>C | |
| 14 | g.91297434G>A | CA487547418 | CCDC88C | c.3837C>T (p.Thr1279=) c.3729C>T (p.Thr1243=) n.3965C>T c.918C>T (p.Thr306=) n.3963C>T | |
| 14 | g.91297434G>C | CA487547420 | CCDC88C | c.3837C>G (p.Thr1279=) c.3729C>G (p.Thr1243=) n.3965C>G c.918C>G (p.Thr306=) n.3963C>G | dbSNP |
| 14 | g.91297434G= | CA2154888735 | CCDC88C | c.3837C= (p.Thr1279=) c.3729C= (p.Thr1243=) n.3965C= c.918C= (p.Thr306=) n.3963C= | |
| 14 | g.91297434G>T | CA487547423 | CCDC88C | c.3837C>A (p.Thr1279=) c.3729C>A (p.Thr1243=) n.3965C>A c.918C>A (p.Thr306=) n.3963C>A | gnomAD v4 |
| 14 | g.91297435dup | CA2626129479 | CCDC88C | c.3837dup (p.Lys1280GlnfsTer?) c.3729dup (p.Lys1244GlnfsTer?) n.3965dup c.918dup (p.Lys307GlnfsTer?) n.3963dup | gnomAD v4 |
| 14 | g.91297435_91297455dup | CA2626129478 | CCDC88C | c.3817_3837dup (p.Thr1279_Lys1280insGluGluLeuHisAlaHisThr) c.3709_3729dup (p.Thr1243_Lys1244insGluGluLeuHisAlaHisThr) n.3945_3965dup c.898_918dup (p.Thr306_Lys307insGluGluLeuHisAlaHisThr) n.3943_3963dup | gnomAD v4 |
| 14 | g.91297435G>A | CA390618496 | CCDC88C | c.3836C>T (p.Thr1279Ile) c.3728C>T (p.Thr1243Ile) n.3964C>T c.917C>T (p.Thr306Ile) n.3962C>T | |
| 14 | g.91297435G>C | CA390618497 | CCDC88C | c.3836C>G (p.Thr1279Ser) c.3728C>G (p.Thr1243Ser) n.3964C>G c.917C>G (p.Thr306Ser) n.3962C>G | dbSNP |
| 14 | g.91297435G= | CA2154888741 | CCDC88C | c.3836C= (p.Thr1279=) c.3728C= (p.Thr1243=) n.3964C= c.917C= (p.Thr306=) n.3962C= | |
| 14 | g.91297435G>T | CA390618499 | CCDC88C | c.3836C>A (p.Thr1279Asn) c.3728C>A (p.Thr1243Asn) n.3964C>A c.917C>A (p.Thr306Asn) n.3962C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91297436T>A | CA390618502 | CCDC88C | c.3835A>T (p.Thr1279Ser) c.3727A>T (p.Thr1243Ser) n.3963A>T c.916A>T (p.Thr306Ser) n.3961A>T | |
| 14 | g.91297436T>C | CA390618504 | CCDC88C | c.3835A>G (p.Thr1279Ala) c.3727A>G (p.Thr1243Ala) n.3963A>G c.916A>G (p.Thr306Ala) n.3961A>G | gnomAD v4 |
| 14 | g.91297436T>G | CA390618506 | CCDC88C | c.3835A>C (p.Thr1279Pro) c.3727A>C (p.Thr1243Pro) n.3963A>C c.916A>C (p.Thr306Pro) n.3961A>C | |
| 14 | g.91297437G>A | CA487547736 | CCDC88C | c.3834C>T (p.His1278=) c.3726C>T (p.His1242=) n.3962C>T c.915C>T (p.His305=) n.3960C>T | gnomAD v4 |
| 14 | g.91297437G>C | CA390618508 | CCDC88C | c.3834C>G (p.His1278Gln) c.3726C>G (p.His1242Gln) n.3962C>G c.915C>G (p.His305Gln) n.3960C>G | |
| 14 | g.91297437G>T | CA390618510 | CCDC88C | c.3834C>A (p.His1278Gln) c.3726C>A (p.His1242Gln) n.3962C>A c.915C>A (p.His305Gln) n.3960C>A | |
| 14 | g.91297438T>A | CA390618512 | CCDC88C | c.3833A>T (p.His1278Leu) c.3725A>T (p.His1242Leu) n.3961A>T c.914A>T (p.His305Leu) n.3959A>T | gnomAD v4 |
| 14 | g.91297438T>C | CA390618514 | CCDC88C | c.3833A>G (p.His1278Arg) c.3725A>G (p.His1242Arg) n.3961A>G c.914A>G (p.His305Arg) n.3959A>G | |
| 14 | g.91297438T>G | CA390618515 | CCDC88C | c.3833A>C (p.His1278Pro) c.3725A>C (p.His1242Pro) n.3961A>C c.914A>C (p.His305Pro) n.3959A>C | |
| 14 | g.91297439G>A | CA390618522 | CCDC88C | c.3832C>T (p.His1278Tyr) c.3724C>T (p.His1242Tyr) n.3960C>T c.913C>T (p.His305Tyr) n.3958C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91297439G>C | CA390618520 | CCDC88C | c.3832C>G (p.His1278Asp) c.3724C>G (p.His1242Asp) n.3960C>G c.913C>G (p.His305Asp) n.3958C>G | |
| 14 | g.91297439G= | CA2154888749 | CCDC88C | c.3832C= (p.His1278=) c.3724C= (p.His1242=) n.3960C= c.913C= (p.His305=) n.3958C= | |
| 14 | g.91297439G>T | CA390618518 | CCDC88C | c.3832C>A (p.His1278Asn) c.3724C>A (p.His1242Asn) n.3960C>A c.913C>A (p.His305Asn) n.3958C>A | |
| 14 | g.91297440G>A | CA487547758 | CCDC88C | c.3831C>T (p.Ala1277=) c.3723C>T (p.Ala1241=) n.3959C>T c.912C>T (p.Ala304=) n.3957C>T | |
| 14 | g.91297440G>C | CA487547756 | CCDC88C | c.3831C>G (p.Ala1277=) c.3723C>G (p.Ala1241=) n.3959C>G c.912C>G (p.Ala304=) n.3957C>G | |
| 14 | g.91297440G>T | CA487547754 | CCDC88C | c.3831C>A (p.Ala1277=) c.3723C>A (p.Ala1241=) n.3959C>A c.912C>A (p.Ala304=) n.3957C>A | |
| 14 | g.91297441G>A | CA390618524 | CCDC88C | c.3830C>T (p.Ala1277Val) c.3722C>T (p.Ala1241Val) n.3958C>T c.911C>T (p.Ala304Val) n.3956C>T | |
| 14 | g.91297441G>C | CA390618526 | CCDC88C | c.3830C>G (p.Ala1277Gly) c.3722C>G (p.Ala1241Gly) n.3958C>G c.911C>G (p.Ala304Gly) n.3956C>G | |
| 14 | g.91297441G>T | CA390618527 | CCDC88C | c.3830C>A (p.Ala1277Asp) c.3722C>A (p.Ala1241Asp) n.3958C>A c.911C>A (p.Ala304Asp) n.3956C>A | |
| 14 | g.91297442C>A | CA390618529 | CCDC88C | c.3829G>T (p.Ala1277Ser) c.3721G>T (p.Ala1241Ser) n.3957G>T c.910G>T (p.Ala304Ser) n.3955G>T | |
| 14 | g.91297442C= | CA2154888750 | CCDC88C | c.3829G= (p.Ala1277=) c.3721G= (p.Ala1241=) n.3957G= c.910G= (p.Ala304=) n.3955G= | |
| 14 | g.91297442C>G | CA390618531 | CCDC88C | c.3829G>C (p.Ala1277Pro) c.3721G>C (p.Ala1241Pro) n.3957G>C c.910G>C (p.Ala304Pro) n.3955G>C | |
| 14 | g.91297442C>T | CA390618534 | CCDC88C | c.3829G>A (p.Ala1277Thr) c.3721G>A (p.Ala1241Thr) n.3957G>A c.910G>A (p.Ala304Thr) n.3955G>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 14 | g.91297443G>A | CA7309201 | CCDC88C | c.3828C>T (p.His1276=) c.3720C>T (p.His1240=) n.3956C>T c.909C>T (p.His303=) n.3954C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91297443G>C | CA390618540 | CCDC88C | c.3828C>G (p.His1276Gln) c.3720C>G (p.His1240Gln) n.3956C>G c.909C>G (p.His303Gln) n.3954C>G | |
| 14 | g.91297443G= | CA2154888763 | CCDC88C | c.3828C= (p.His1276=) c.3720C= (p.His1240=) n.3956C= c.909C= (p.His303=) n.3954C= | |
| 14 | g.91297443G>T | CA390618541 | CCDC88C | c.3828C>A (p.His1276Gln) c.3720C>A (p.His1240Gln) n.3956C>A c.909C>A (p.His303Gln) n.3954C>A | |
| 14 | g.91297444T>A | CA390618545 | CCDC88C | c.3827A>T (p.His1276Leu) c.3719A>T (p.His1240Leu) n.3955A>T c.908A>T (p.His303Leu) n.3953A>T | |
| 14 | g.91297444T>C | CA390618547 | CCDC88C | c.3827A>G (p.His1276Arg) c.3719A>G (p.His1240Arg) n.3955A>G c.908A>G (p.His303Arg) n.3953A>G | |
| 14 | g.91297444T>G | CA390618550 | CCDC88C | c.3827A>C (p.His1276Pro) c.3719A>C (p.His1240Pro) n.3955A>C c.908A>C (p.His303Pro) n.3953A>C | |
| 14 | g.91297445G>A | CA390618556 | CCDC88C | c.3826C>T (p.His1276Tyr) c.3718C>T (p.His1240Tyr) n.3954C>T c.907C>T (p.His303Tyr) n.3952C>T | dbSNP gnomAD v4 COSMIC COSMIC |
| 14 | g.91297445G>C | CA390618559 | CCDC88C | c.3826C>G (p.His1276Asp) c.3718C>G (p.His1240Asp) n.3954C>G c.907C>G (p.His303Asp) n.3952C>G | |
| 14 | g.91297445G= | CA2154888771 | CCDC88C | c.3826C= (p.His1276=) c.3718C= (p.His1240=) n.3954C= c.907C= (p.His303=) n.3952C= | |
| 14 | g.91297445G>T | CA390618554 | CCDC88C | c.3826C>A (p.His1276Asn) c.3718C>A (p.His1240Asn) n.3954C>A c.907C>A (p.His303Asn) n.3952C>A | |
| 14 | g.91297446C>A | CA487547780 | CCDC88C | c.3825G>T (p.Leu1275=) c.3717G>T (p.Leu1239=) n.3953G>T c.906G>T (p.Leu302=) n.3951G>T | |
| 14 | g.91297446C>G | CA487547783 | CCDC88C | c.3825G>C (p.Leu1275=) c.3717G>C (p.Leu1239=) n.3953G>C c.906G>C (p.Leu302=) n.3951G>C | |
| 14 | g.91297446C>T | CA487547785 | CCDC88C | c.3825G>A (p.Leu1275=) c.3717G>A (p.Leu1239=) n.3953G>A c.906G>A (p.Leu302=) n.3951G>A | |
| 14 | g.91297447A>C | CA390618566 | CCDC88C | c.3824T>G (p.Leu1275Arg) c.3716T>G (p.Leu1239Arg) n.3952T>G c.905T>G (p.Leu302Arg) n.3950T>G | |
| 14 | g.91297447A>G | CA390618561 | CCDC88C | c.3824T>C (p.Leu1275Pro) c.3716T>C (p.Leu1239Pro) n.3952T>C c.905T>C (p.Leu302Pro) n.3950T>C | |
| 14 | g.91297447A>T | CA390618564 | CCDC88C | c.3824T>A (p.Leu1275Gln) c.3716T>A (p.Leu1239Gln) n.3952T>A c.905T>A (p.Leu302Gln) n.3950T>A | |
| 14 | g.91297448G>A | CA487547790 | CCDC88C | c.3823C>T (p.Leu1275=) c.3715C>T (p.Leu1239=) n.3951C>T c.904C>T (p.Leu302=) n.3949C>T | dbSNP |
| 14 | g.91297448G>C | CA390618569 | CCDC88C | c.3823C>G (p.Leu1275Val) c.3715C>G (p.Leu1239Val) n.3951C>G c.904C>G (p.Leu302Val) n.3949C>G | gnomAD v4 |
| 14 | g.91297448G= | CA2154888775 | CCDC88C | c.3823C= (p.Leu1275=) c.3715C= (p.Leu1239=) n.3951C= c.904C= (p.Leu302=) n.3949C= | |
| 14 | g.91297448G>T | CA390618571 | CCDC88C | c.3823C>A (p.Leu1275Met) c.3715C>A (p.Leu1239Met) n.3951C>A c.904C>A (p.Leu302Met) n.3949C>A | |
| 14 | g.91297449C>A | CA390618574 | CCDC88C | c.3822G>T (p.Glu1274Asp) c.3714G>T (p.Glu1238Asp) n.3950G>T c.903G>T (p.Glu301Asp) n.3948G>T | |
| 14 | g.91297449C>G | CA390618577 | CCDC88C | c.3822G>C (p.Glu1274Asp) c.3714G>C (p.Glu1238Asp) n.3950G>C c.903G>C (p.Glu301Asp) n.3948G>C | |
| 14 | g.91297449C>T | CA487547798 | CCDC88C | c.3822G>A (p.Glu1274=) c.3714G>A (p.Glu1238=) n.3950G>A c.903G>A (p.Glu301=) n.3948G>A | |
| 14 | g.91297450T>A | CA390618585 | CCDC88C | c.3821A>T (p.Glu1274Val) c.3713A>T (p.Glu1238Val) n.3949A>T c.902A>T (p.Glu301Val) n.3947A>T | |
| 14 | g.91297450T>C | CA390618580 | CCDC88C | c.3821A>G (p.Glu1274Gly) c.3713A>G (p.Glu1238Gly) n.3949A>G c.902A>G (p.Glu301Gly) n.3947A>G | |
| 14 | g.91297450T>G | CA390618583 | CCDC88C | c.3821A>C (p.Glu1274Ala) c.3713A>C (p.Glu1238Ala) n.3949A>C c.902A>C (p.Glu301Ala) n.3947A>C | |
| 14 | g.91297451C>A | CA390618588 | CCDC88C | c.3820G>T (p.Glu1274Ter) c.3712G>T (p.Glu1238Ter) n.3948G>T c.901G>T (p.Glu301Ter) n.3946G>T | |
| 14 | g.91297451C>G | CA390618591 | CCDC88C | c.3820G>C (p.Glu1274Gln) c.3712G>C (p.Glu1238Gln) n.3948G>C c.901G>C (p.Glu301Gln) n.3946G>C | |
| 14 | g.91297451C>T | CA390618594 | CCDC88C | c.3820G>A (p.Glu1274Lys) c.3712G>A (p.Glu1238Lys) n.3948G>A c.901G>A (p.Glu301Lys) n.3946G>A | gnomAD v4 |
| 14 | g.91297452C>A | CA390618597 | CCDC88C | c.3819G>T (p.Glu1273Asp) c.3711G>T (p.Glu1237Asp) n.3947G>T c.900G>T (p.Glu300Asp) n.3945G>T | |
| 14 | g.91297452C>G | CA390618600 | CCDC88C | c.3819G>C (p.Glu1273Asp) c.3711G>C (p.Glu1237Asp) n.3947G>C c.900G>C (p.Glu300Asp) n.3945G>C | |
| 14 | g.91297452C>T | CA487547811 | CCDC88C | c.3819G>A (p.Glu1273=) c.3711G>A (p.Glu1237=) n.3947G>A c.900G>A (p.Glu300=) n.3945G>A | gnomAD v4 |
| 14 | g.91297453T>A | CA390618604 | CCDC88C | c.3818A>T (p.Glu1273Val) c.3710A>T (p.Glu1237Val) n.3946A>T c.899A>T (p.Glu300Val) n.3944A>T | |
| 14 | g.91297453T>C | CA390618610 | CCDC88C | c.3818A>G (p.Glu1273Gly) c.3710A>G (p.Glu1237Gly) n.3946A>G c.899A>G (p.Glu300Gly) n.3944A>G | |
| 14 | g.91297453T>G | CA390618607 | CCDC88C | c.3818A>C (p.Glu1273Ala) c.3710A>C (p.Glu1237Ala) n.3946A>C c.899A>C (p.Glu300Ala) n.3944A>C | |
| 14 | g.91297454C>A | CA390618612 | CCDC88C | c.3817G>T (p.Glu1273Ter) c.3709G>T (p.Glu1237Ter) n.3945G>T c.898G>T (p.Glu300Ter) n.3943G>T | |
| 14 | g.91297454C= | CA2154888780 | CCDC88C | c.3817G= (p.Glu1273=) c.3709G= (p.Glu1237=) n.3945G= c.898G= (p.Glu300=) n.3943G= | |
| 14 | g.91297454C>G | CA390618615 | CCDC88C | c.3817G>C (p.Glu1273Gln) c.3709G>C (p.Glu1237Gln) n.3945G>C c.898G>C (p.Glu300Gln) n.3943G>C | |
| 14 | g.91297454C>T | CA265548709 | CCDC88C | c.3817G>A (p.Glu1273Lys) c.3709G>A (p.Glu1237Lys) n.3945G>A c.898G>A (p.Glu300Lys) n.3943G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91297455G>A | CA7309202 | CCDC88C | c.3816C>T (p.Tyr1272=) c.3708C>T (p.Tyr1236=) n.3944C>T c.897C>T (p.Tyr299=) n.3942C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91297455G>C | CA390618621 | CCDC88C | c.3816C>G (p.Tyr1272Ter) c.3708C>G (p.Tyr1236Ter) n.3944C>G c.897C>G (p.Tyr299Ter) n.3942C>G | |
| 14 | g.91297455G= | CA2154888785 | CCDC88C | c.3816C= (p.Tyr1272=) c.3708C= (p.Tyr1236=) n.3944C= c.897C= (p.Tyr299=) n.3942C= | |
| 14 | g.91297455G>T | CA390618623 | CCDC88C | c.3816C>A (p.Tyr1272Ter) c.3708C>A (p.Tyr1236Ter) n.3944C>A c.897C>A (p.Tyr299Ter) n.3942C>A | dbSNP gnomAD v4 |
| 14 | g.91297456T>A | CA390618625 | CCDC88C | c.3815A>T (p.Tyr1272Phe) c.3707A>T (p.Tyr1236Phe) n.3943A>T c.896A>T (p.Tyr299Phe) n.3941A>T | |
| 14 | g.91297456T>C | CA390618628 | CCDC88C | c.3815A>G (p.Tyr1272Cys) c.3707A>G (p.Tyr1236Cys) n.3943A>G c.896A>G (p.Tyr299Cys) n.3941A>G | |
| 14 | g.91297456T>G | CA390618629 | CCDC88C | c.3815A>C (p.Tyr1272Ser) c.3707A>C (p.Tyr1236Ser) n.3943A>C c.896A>C (p.Tyr299Ser) n.3941A>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91297456T= | CA2154888790 | CCDC88C | c.3815A= (p.Tyr1272=) c.3707A= (p.Tyr1236=) n.3943A= c.896A= (p.Tyr299=) n.3941A= | |
| 14 | g.91297457A= | CA2154888794 | CCDC88C | c.3814T= (p.Tyr1272=) c.3706T= (p.Tyr1236=) n.3942T= c.895T= (p.Tyr299=) n.3940T= | |
| 14 | g.91297457A>C | CA265548727 | CCDC88C | c.3814T>G (p.Tyr1272Asp) c.3706T>G (p.Tyr1236Asp) n.3942T>G c.895T>G (p.Tyr299Asp) n.3940T>G | dbSNP |
| 14 | g.91297457A>G | CA265548728 | CCDC88C | c.3814T>C (p.Tyr1272His) c.3706T>C (p.Tyr1236His) n.3942T>C c.895T>C (p.Tyr299His) n.3940T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91297457A>T | CA390618636 | CCDC88C | c.3814T>A (p.Tyr1272Asn) c.3706T>A (p.Tyr1236Asn) n.3942T>A c.895T>A (p.Tyr299Asn) n.3940T>A | |
| 14 | g.91297458C>A | CA390618641 | CCDC88C | c.3813G>T (p.Glu1271Asp) c.3705G>T (p.Glu1235Asp) n.3941G>T c.894G>T (p.Glu298Asp) n.3939G>T | |
| 14 | g.91297458C>G | CA390618639 | CCDC88C | c.3813G>C (p.Glu1271Asp) c.3705G>C (p.Glu1235Asp) n.3941G>C c.894G>C (p.Glu298Asp) n.3939G>C | |
| 14 | g.91297458C>T | CA487547838 | CCDC88C | c.3813G>A (p.Glu1271=) c.3705G>A (p.Glu1235=) n.3941G>A c.894G>A (p.Glu298=) n.3939G>A | |
| 14 | g.91297459T>A | CA390618645 | CCDC88C | c.3812A>T (p.Glu1271Val) c.3704A>T (p.Glu1235Val) n.3940A>T c.893A>T (p.Glu298Val) n.3938A>T | |
| 14 | g.91297459T>C | CA390618647 | CCDC88C | c.3812A>G (p.Glu1271Gly) c.3704A>G (p.Glu1235Gly) n.3940A>G c.893A>G (p.Glu298Gly) n.3938A>G | |
| 14 | g.91297459T>G | CA390618650 | CCDC88C | c.3812A>C (p.Glu1271Ala) c.3704A>C (p.Glu1235Ala) n.3940A>C c.893A>C (p.Glu298Ala) n.3938A>C | |
| 14 | g.91297460C>A | CA390618653 | CCDC88C | c.3811G>T (p.Glu1271Ter) c.3703G>T (p.Glu1235Ter) n.3939G>T c.892G>T (p.Glu298Ter) n.3937G>T | gnomAD v4 |
| 14 | g.91297460C= | CA2154888799 | CCDC88C | c.3811G= (p.Glu1271=) c.3703G= (p.Glu1235=) n.3939G= c.892G= (p.Glu298=) n.3937G= | |
| 14 | g.91297460C>G | CA390618656 | CCDC88C | c.3811G>C (p.Glu1271Gln) c.3703G>C (p.Glu1235Gln) n.3939G>C c.892G>C (p.Glu298Gln) n.3937G>C | |
| 14 | g.91297460C>T | CA7309203 | CCDC88C | c.3811G>A (p.Glu1271Lys) c.3703G>A (p.Glu1235Lys) n.3939G>A c.892G>A (p.Glu298Lys) n.3937G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91297461C>A | CA487547848 | CCDC88C | c.3810G>T (p.Gly1270=) c.3702G>T (p.Gly1234=) n.3938G>T c.891G>T (p.Gly297=) n.3936G>T | |
| 14 | g.91297461C>G | CA487547851 | CCDC88C | c.3810G>C (p.Gly1270=) c.3702G>C (p.Gly1234=) n.3938G>C c.891G>C (p.Gly297=) n.3936G>C | |
| 14 | g.91297461C>T | CA487547854 | CCDC88C | c.3810G>A (p.Gly1270=) c.3702G>A (p.Gly1234=) n.3938G>A c.891G>A (p.Gly297=) n.3936G>A | |
| 14 | g.91297462C>A | CA390618665 | CCDC88C | c.3809G>T (p.Gly1270Val) c.3701G>T (p.Gly1234Val) n.3937G>T c.890G>T (p.Gly297Val) n.3935G>T | |
| 14 | g.91297462C>G | CA390618660 | CCDC88C | c.3809G>C (p.Gly1270Ala) c.3701G>C (p.Gly1234Ala) n.3937G>C c.890G>C (p.Gly297Ala) n.3935G>C | |
| 14 | g.91297462C>T | CA390618663 | CCDC88C | c.3809G>A (p.Gly1270Glu) c.3701G>A (p.Gly1234Glu) n.3937G>A c.890G>A (p.Gly297Glu) n.3935G>A | |
| 14 | g.91297462_91297464delinsAGGT | CA2695219630 | CCDC88C | c.3807_3809delinsACCT (p.Gly1270ProfsTer?) c.3699_3701delinsACCT (p.Gly1234ProfsTer?) n.3935_3937delinsACCT c.888_890delinsACCT (p.Gly297ProfsTer?) n.3933_3935delinsACCT | |
| 14 | g.91297463C>A | CA7309204 | CCDC88C | c.3808G>T (p.Gly1270Trp) c.3700G>T (p.Gly1234Trp) n.3936G>T c.889G>T (p.Gly297Trp) n.3934G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91297463C= | CA2154888805 | CCDC88C | c.3808G= (p.Gly1270=) c.3700G= (p.Gly1234=) n.3936G= c.889G= (p.Gly297=) n.3934G= | |
| 14 | g.91297463C>G | CA390618670 | CCDC88C | c.3808G>C (p.Gly1270Arg) c.3700G>C (p.Gly1234Arg) n.3936G>C c.889G>C (p.Gly297Arg) n.3934G>C | gnomAD v4 |
| 14 | g.91297463C>T | CA390618673 | CCDC88C | c.3808G>A (p.Gly1270Arg) c.3700G>A (p.Gly1234Arg) n.3936G>A c.889G>A (p.Gly297Arg) n.3934G>A | |
| 14 | g.91297464C>A | CA390618676 | CCDC88C | c.3807G>T (p.Lys1269Asn) c.3699G>T (p.Lys1233Asn) n.3935G>T c.888G>T (p.Lys296Asn) n.3933G>T | gnomAD v4 |
| 14 | g.91297464C>G | CA390618678 | CCDC88C | c.3807G>C (p.Lys1269Asn) c.3699G>C (p.Lys1233Asn) n.3935G>C c.888G>C (p.Lys296Asn) n.3933G>C | |
| 14 | g.91297464C>T | CA487547864 | CCDC88C | c.3807G>A (p.Lys1269=) c.3699G>A (p.Lys1233=) n.3935G>A c.888G>A (p.Lys296=) n.3933G>A | gnomAD v4 |
| 14 | g.91297465T>A | CA390618686 | CCDC88C | c.3806A>T (p.Lys1269Met) c.3698A>T (p.Lys1233Met) n.3934A>T c.887A>T (p.Lys296Met) n.3932A>T | |
| 14 | g.91297465T>C | CA390618682 | CCDC88C | c.3806A>G (p.Lys1269Arg) c.3698A>G (p.Lys1233Arg) n.3934A>G c.887A>G (p.Lys296Arg) n.3932A>G | COSMIC |
| 14 | g.91297465T>G | CA390618684 | CCDC88C | c.3806A>C (p.Lys1269Thr) c.3698A>C (p.Lys1233Thr) n.3934A>C c.887A>C (p.Lys296Thr) n.3932A>C | |
| 14 | g.91297466T>A | CA390618690 | CCDC88C | c.3805A>T (p.Lys1269Ter) c.3697A>T (p.Lys1233Ter) n.3933A>T c.886A>T (p.Lys296Ter) n.3931A>T | |
| 14 | g.91297466T>C | CA390618691 | CCDC88C | c.3805A>G (p.Lys1269Glu) c.3697A>G (p.Lys1233Glu) n.3933A>G c.886A>G (p.Lys296Glu) n.3931A>G | gnomAD v4 |
| 14 | g.91297466T>G | CA390618694 | CCDC88C | c.3805A>C (p.Lys1269Gln) c.3697A>C (p.Lys1233Gln) n.3933A>C c.886A>C (p.Lys296Gln) n.3931A>C | |
| 14 | g.91297467C>A | CA487547877 | CCDC88C | c.3804G>T (p.Leu1268=) c.3696G>T (p.Leu1232=) n.3932G>T c.885G>T (p.Leu295=) n.3930G>T | |
| 14 | g.91297467C>G | CA487547879 | CCDC88C | c.3804G>C (p.Leu1268=) c.3696G>C (p.Leu1232=) n.3932G>C c.885G>C (p.Leu295=) n.3930G>C | |
| 14 | g.91297467C>T | CA487547882 | CCDC88C | c.3804G>A (p.Leu1268=) c.3696G>A (p.Leu1232=) n.3932G>A c.885G>A (p.Leu295=) n.3930G>A | gnomAD v4 |
| 14 | g.91297468A= | CA2154888812 | CCDC88C | c.3803T= (p.Leu1268=) c.3695T= (p.Leu1232=) n.3931T= c.884T= (p.Leu295=) n.3929T= | |
| 14 | g.91297468A>C | CA390618697 | CCDC88C | c.3803T>G (p.Leu1268Arg) c.3695T>G (p.Leu1232Arg) n.3931T>G c.884T>G (p.Leu295Arg) n.3929T>G | |
| 14 | g.91297468A>G | CA390618699 | CCDC88C | c.3803T>C (p.Leu1268Pro) c.3695T>C (p.Leu1232Pro) n.3931T>C c.884T>C (p.Leu295Pro) n.3929T>C | |
| 14 | g.91297468A>T | CA390618702 | CCDC88C | c.3803T>A (p.Leu1268Gln) c.3695T>A (p.Leu1232Gln) n.3931T>A c.884T>A (p.Leu295Gln) n.3929T>A | |
| 14 | g.91297469G>A | CA487547889 | CCDC88C | c.3802C>T (p.Leu1268=) c.3694C>T (p.Leu1232=) n.3930C>T c.883C>T (p.Leu295=) n.3928C>T | |
| 14 | g.91297469G>C | CA390618705 | CCDC88C | c.3802C>G (p.Leu1268Val) c.3694C>G (p.Leu1232Val) n.3930C>G c.883C>G (p.Leu295Val) n.3928C>G | |
| 14 | g.91297469G>T | CA390618708 | CCDC88C | c.3802C>A (p.Leu1268Met) c.3694C>A (p.Leu1232Met) n.3930C>A c.883C>A (p.Leu295Met) n.3928C>A | |
| 14 | g.91297470_91297472dup | CA709871597 | CCDC88C | c.3800_3802dup (p.Gln1267_Leu1268insGln) c.3692_3694dup (p.Gln1231_Leu1232insGln) n.3928_3930dup c.881_883dup (p.Gln294_Leu295insGln) n.3926_3928dup | dbSNP |
| 14 | g.91297470C>A | CA390618711 | CCDC88C | c.3801G>T (p.Gln1267His) c.3693G>T (p.Gln1231His) n.3929G>T c.882G>T (p.Gln294His) n.3927G>T | |
| 14 | g.91297470C= | CA2154888816 | CCDC88C | c.3801G= (p.Gln1267=) c.3693G= (p.Gln1231=) n.3929G= c.882G= (p.Gln294=) n.3927G= | |
| 14 | g.91297470C>G | CA390618713 | CCDC88C | c.3801G>C (p.Gln1267His) c.3693G>C (p.Gln1231His) n.3929G>C c.882G>C (p.Gln294His) n.3927G>C | gnomAD v4 |
| 14 | g.91297470C>T | CA487547896 | CCDC88C | c.3801G>A (p.Gln1267=) c.3693G>A (p.Gln1231=) n.3929G>A c.882G>A (p.Gln294=) n.3927G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91297471T>A | CA390618717 | CCDC88C | c.3800A>T (p.Gln1267Leu) c.3692A>T (p.Gln1231Leu) n.3928A>T c.881A>T (p.Gln294Leu) n.3926A>T | |
| 14 | g.91297471T>C | CA390618719 | CCDC88C | c.3800A>G (p.Gln1267Arg) c.3692A>G (p.Gln1231Arg) n.3928A>G c.881A>G (p.Gln294Arg) n.3926A>G | gnomAD v4 |
| 14 | g.91297471T>G | CA390618721 | CCDC88C | c.3800A>C (p.Gln1267Pro) c.3692A>C (p.Gln1231Pro) n.3928A>C c.881A>C (p.Gln294Pro) n.3926A>C | gnomAD v4 |
| 14 | g.91297472G>A | CA390618724 | CCDC88C | c.3799C>T (p.Gln1267Ter) c.3691C>T (p.Gln1231Ter) n.3927C>T c.880C>T (p.Gln294Ter) n.3925C>T | dbSNP gnomAD v2 |
| 14 | g.91297472G>C | CA390618728 | CCDC88C | c.3799C>G (p.Gln1267Glu) c.3691C>G (p.Gln1231Glu) n.3927C>G c.880C>G (p.Gln294Glu) n.3925C>G | |
| 14 | g.91297472G= | CA2154888818 | CCDC88C | c.3799C= (p.Gln1267=) c.3691C= (p.Gln1231=) n.3927C= c.880C= (p.Gln294=) n.3925C= | |
| 14 | g.91297472G>T | CA390618727 | CCDC88C | c.3799C>A (p.Gln1267Lys) c.3691C>A (p.Gln1231Lys) n.3927C>A c.880C>A (p.Gln294Lys) n.3925C>A | |
| 14 | g.91297473G>A | CA487547906 | CCDC88C | c.3798C>T (p.His1266=) c.3690C>T (p.His1230=) n.3926C>T c.879C>T (p.His293=) n.3924C>T | |
| 14 | g.91297473G>C | CA390618731 | CCDC88C | c.3798C>G (p.His1266Gln) c.3690C>G (p.His1230Gln) n.3926C>G c.879C>G (p.His293Gln) n.3924C>G | |
| 14 | g.91297473G>T | CA390618733 | CCDC88C | c.3798C>A (p.His1266Gln) c.3690C>A (p.His1230Gln) n.3926C>A c.879C>A (p.His293Gln) n.3924C>A | |
| 14 | g.91297474T>A | CA390618736 | CCDC88C | c.3797A>T (p.His1266Leu) c.3689A>T (p.His1230Leu) n.3925A>T c.878A>T (p.His293Leu) n.3923A>T | |
| 14 | g.91297474T>C | CA390618739 | CCDC88C | c.3797A>G (p.His1266Arg) c.3689A>G (p.His1230Arg) n.3925A>G c.878A>G (p.His293Arg) n.3923A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.91297474T>G | CA390618740 | CCDC88C | c.3797A>C (p.His1266Pro) c.3689A>C (p.His1230Pro) n.3925A>C c.878A>C (p.His293Pro) n.3923A>C | |
| 14 | g.91297474T= | CA2154888825 | CCDC88C | c.3797A= (p.His1266=) c.3689A= (p.His1230=) n.3925A= c.878A= (p.His293=) n.3923A= | |
| 14 | g.91297475G>A | CA390618743 | CCDC88C | c.3796C>T (p.His1266Tyr) c.3688C>T (p.His1230Tyr) n.3924C>T c.877C>T (p.His293Tyr) n.3922C>T | gnomAD v4 |
| 14 | g.91297475G>C | CA390618745 | CCDC88C | c.3796C>G (p.His1266Asp) c.3688C>G (p.His1230Asp) n.3924C>G c.877C>G (p.His293Asp) n.3922C>G | |
| 14 | g.91297475G>T | CA390618748 | CCDC88C | c.3796C>A (p.His1266Asn) c.3688C>A (p.His1230Asn) n.3924C>A c.877C>A (p.His293Asn) n.3922C>A | |
| 14 | g.91297476G>A | CA487547916 | CCDC88C | c.3795C>T (p.His1265=) c.3687C>T (p.His1229=) n.3923C>T c.876C>T (p.His292=) n.3921C>T | |
| 14 | g.91297476G>C | CA390618750 | CCDC88C | c.3795C>G (p.His1265Gln) c.3687C>G (p.His1229Gln) n.3923C>G c.876C>G (p.His292Gln) n.3921C>G | |
| 14 | g.91297476G>T | CA390618752 | CCDC88C | c.3795C>A (p.His1265Gln) c.3687C>A (p.His1229Gln) n.3923C>A c.876C>A (p.His292Gln) n.3921C>A | |
| 14 | g.91297477T>A | CA390618755 | CCDC88C | c.3794A>T (p.His1265Leu) c.3686A>T (p.His1229Leu) n.3922A>T c.875A>T (p.His292Leu) n.3920A>T | |
| 14 | g.91297477T>C | CA390618758 | CCDC88C | c.3794A>G (p.His1265Arg) c.3686A>G (p.His1229Arg) n.3922A>G c.875A>G (p.His292Arg) n.3920A>G | |
| 14 | g.91297477T>G | CA390618759 | CCDC88C | c.3794A>C (p.His1265Pro) c.3686A>C (p.His1229Pro) n.3922A>C c.875A>C (p.His292Pro) n.3920A>C | |
| 14 | g.91297478G>A | CA265548739 | CCDC88C | c.3793C>T (p.His1265Tyr) c.3685C>T (p.His1229Tyr) n.3921C>T c.874C>T (p.His292Tyr) n.3919C>T | dbSNP gnomAD v4 |
| 14 | g.91297478G>C | CA390618763 | CCDC88C | c.3793C>G (p.His1265Asp) c.3685C>G (p.His1229Asp) n.3921C>G c.874C>G (p.His292Asp) n.3919C>G | |
| 14 | g.91297478G= | CA2154888834 | CCDC88C | c.3793C= (p.His1265=) c.3685C= (p.His1229=) n.3921C= c.874C= (p.His292=) n.3919C= | |
| 14 | g.91297478G>T | CA390618767 | CCDC88C | c.3793C>A (p.His1265Asn) c.3685C>A (p.His1229Asn) n.3921C>A c.874C>A (p.His292Asn) n.3919C>A | |
| 14 | g.91297479C>A | CA487547925 | CCDC88C | c.3792G>T (p.Leu1264=) c.3684G>T (p.Leu1228=) n.3920G>T c.873G>T (p.Leu291=) n.3918G>T | |
| 14 | g.91297479C= | CA2154888838 | CCDC88C | c.3792G= (p.Leu1264=) c.3684G= (p.Leu1228=) n.3920G= c.873G= (p.Leu291=) n.3918G= | |
| 14 | g.91297479C>G | CA7309205 | CCDC88C | c.3792G>C (p.Leu1264=) c.3684G>C (p.Leu1228=) n.3920G>C c.873G>C (p.Leu291=) n.3918G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91297479C>T | CA487547927 | CCDC88C | c.3792G>A (p.Leu1264=) c.3684G>A (p.Leu1228=) n.3920G>A c.873G>A (p.Leu291=) n.3918G>A | |
| 14 | g.91297480A>C | CA390618771 | CCDC88C | c.3791T>G (p.Leu1264Arg) c.3683T>G (p.Leu1228Arg) n.3919T>G c.872T>G (p.Leu291Arg) n.3917T>G | |
| 14 | g.91297480A>G | CA390618773 | CCDC88C | c.3791T>C (p.Leu1264Pro) c.3683T>C (p.Leu1228Pro) n.3919T>C c.872T>C (p.Leu291Pro) n.3917T>C | |
| 14 | g.91297480A>T | CA390618775 | CCDC88C | c.3791T>A (p.Leu1264Gln) c.3683T>A (p.Leu1228Gln) n.3919T>A c.872T>A (p.Leu291Gln) n.3917T>A | |
| 14 | g.91297481G>A | CA487547934 | CCDC88C | c.3790C>T (p.Leu1264=) c.3682C>T (p.Leu1228=) n.3918C>T c.871C>T (p.Leu291=) n.3916C>T | ClinVar |
| 14 | g.91297481G>C | CA390618778 | CCDC88C | c.3790C>G (p.Leu1264Val) c.3682C>G (p.Leu1228Val) n.3918C>G c.871C>G (p.Leu291Val) n.3916C>G | gnomAD v4 |
| 14 | g.91297481G>T | CA390618780 | CCDC88C | c.3790C>A (p.Leu1264Met) c.3682C>A (p.Leu1228Met) n.3918C>A c.871C>A (p.Leu291Met) n.3916C>A |