| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48756113_48756145del | CA2628343373 | CEP152 | c.3107_3139del (p.Gln1036_Ile1046del) c.2828_2860del (p.Gln943_Ile953del) c.1148_1180del (p.Gln383_Ile393del) c.1142_1174del (p.Gln381_Ile391del) n.4072_4104del n.4058_4090del | gnomAD v4 |
| 15 | g.48756111A>C | CA392342340 | CEP152 | c.3137T>G (p.Ile1046Ser) c.2858T>G (p.Ile953Ser) c.1178T>G (p.Ile393Ser) c.1172T>G (p.Ile391Ser) n.4102T>G n.4088T>G | |
| 15 | g.48756111A>G | CA392342343 | CEP152 | c.3137T>C (p.Ile1046Thr) c.2858T>C (p.Ile953Thr) c.1178T>C (p.Ile393Thr) c.1172T>C (p.Ile391Thr) n.4102T>C n.4088T>C | |
| 15 | g.48756111A>T | CA392342334 | CEP152 | c.3137T>A (p.Ile1046Asn) c.2858T>A (p.Ile953Asn) c.1178T>A (p.Ile393Asn) c.1172T>A (p.Ile391Asn) n.4102T>A n.4088T>A | |
| 15 | g.48756112T>A | CA392342352 | CEP152 | c.3136A>T (p.Ile1046Phe) c.2857A>T (p.Ile953Phe) c.1177A>T (p.Ile393Phe) c.1171A>T (p.Ile391Phe) n.4101A>T n.4087A>T | |
| 15 | g.48756112T>C | CA392342345 | CEP152 | c.3136A>G (p.Ile1046Val) c.2857A>G (p.Ile953Val) c.1177A>G (p.Ile393Val) c.1171A>G (p.Ile391Val) n.4101A>G n.4087A>G | |
| 15 | g.48756112T>G | CA392342347 | CEP152 | c.3136A>C (p.Ile1046Leu) c.2857A>C (p.Ile953Leu) c.1177A>C (p.Ile393Leu) c.1171A>C (p.Ile391Leu) n.4101A>C n.4087A>C | |
| 15 | g.48756113G>A | CA490311206 | CEP152 | c.3135C>T (p.Asp1045=) c.2856C>T (p.Asp952=) c.1176C>T (p.Asp392=) c.1170C>T (p.Asp390=) n.4100C>T n.4086C>T | |
| 15 | g.48756113G>C | CA392342355 | CEP152 | c.3135C>G (p.Asp1045Glu) c.2856C>G (p.Asp952Glu) c.1176C>G (p.Asp392Glu) c.1170C>G (p.Asp390Glu) n.4100C>G n.4086C>G | |
| 15 | g.48756113G>T | CA392342358 | CEP152 | c.3135C>A (p.Asp1045Glu) c.2856C>A (p.Asp952Glu) c.1176C>A (p.Asp392Glu) c.1170C>A (p.Asp390Glu) n.4100C>A n.4086C>A | |
| 15 | g.48756114T>A | CA392342360 | CEP152 | c.3134A>T (p.Asp1045Val) c.2855A>T (p.Asp952Val) c.1175A>T (p.Asp392Val) c.1169A>T (p.Asp390Val) n.4099A>T n.4085A>T | |
| 15 | g.48756114T>C | CA7548414 | CEP152 | c.3134A>G (p.Asp1045Gly) c.2855A>G (p.Asp952Gly) c.1175A>G (p.Asp392Gly) c.1169A>G (p.Asp390Gly) n.4099A>G n.4085A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756114T>G | CA392342367 | CEP152 | c.3134A>C (p.Asp1045Ala) c.2855A>C (p.Asp952Ala) c.1175A>C (p.Asp392Ala) c.1169A>C (p.Asp390Ala) n.4099A>C n.4085A>C | |
| 15 | g.48756114T= | CA2175628544 | CEP152 | c.3134A= (p.Asp1045=) c.2855A= (p.Asp952=) c.1175A= (p.Asp392=) c.1169A= (p.Asp390=) n.4099A= n.4085A= | |
| 15 | g.48756115C>A | CA392342369 | CEP152 | c.3133G>T (p.Asp1045Tyr) c.2854G>T (p.Asp952Tyr) c.1174G>T (p.Asp392Tyr) c.1168G>T (p.Asp390Tyr) n.4098G>T n.4084G>T | |
| 15 | g.48756115C>G | CA392342370 | CEP152 | c.3133G>C (p.Asp1045His) c.2854G>C (p.Asp952His) c.1174G>C (p.Asp392His) c.1168G>C (p.Asp390His) n.4098G>C n.4084G>C | |
| 15 | g.48756115C>T | CA392342371 | CEP152 | c.3133G>A (p.Asp1045Asn) c.2854G>A (p.Asp952Asn) c.1174G>A (p.Asp392Asn) c.1168G>A (p.Asp390Asn) n.4098G>A n.4084G>A | |
| 15 | g.48756116T>A | CA392342373 | CEP152 | c.3132A>T (p.Glu1044Asp) c.2853A>T (p.Glu951Asp) c.1173A>T (p.Glu391Asp) c.1167A>T (p.Glu389Asp) n.4097A>T n.4083A>T | |
| 15 | g.48756116T>C | CA490311207 | CEP152 | c.3132A>G (p.Glu1044=) c.2853A>G (p.Glu951=) c.1173A>G (p.Glu391=) c.1167A>G (p.Glu389=) n.4097A>G n.4083A>G | |
| 15 | g.48756116T>G | CA392342374 | CEP152 | c.3132A>C (p.Glu1044Asp) c.2853A>C (p.Glu951Asp) c.1173A>C (p.Glu391Asp) c.1167A>C (p.Glu389Asp) n.4097A>C n.4083A>C | |
| 15 | g.48756117del | CA2575718054 | CEP152 | c.3132del (p.Asp1045ThrfsTer3) c.2853del (p.Asp952ThrfsTer3) c.1173del (p.Asp392ThrfsTer3) c.1167del (p.Asp390ThrfsTer3) n.4097del n.4083del | |
| 15 | g.48756117T>A | CA392342399 | CEP152 | c.3131A>T (p.Glu1044Val) c.2852A>T (p.Glu951Val) c.1172A>T (p.Glu391Val) c.1166A>T (p.Glu389Val) n.4096A>T n.4082A>T | |
| 15 | g.48756117T>C | CA392342402 | CEP152 | c.3131A>G (p.Glu1044Gly) c.2852A>G (p.Glu951Gly) c.1172A>G (p.Glu391Gly) c.1166A>G (p.Glu389Gly) n.4096A>G n.4082A>G | gnomAD v4 |
| 15 | g.48756117T>G | CA392342397 | CEP152 | c.3131A>C (p.Glu1044Ala) c.2852A>C (p.Glu951Ala) c.1172A>C (p.Glu391Ala) c.1166A>C (p.Glu389Ala) n.4096A>C n.4082A>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756117T= | CA2175628547 | CEP152 | c.3131A= (p.Glu1044=) c.2852A= (p.Glu951=) c.1172A= (p.Glu391=) c.1166A= (p.Glu389=) n.4096A= n.4082A= | |
| 15 | g.48756118C>A | CA392342409 | CEP152 | c.3130G>T (p.Glu1044Ter) c.2851G>T (p.Glu951Ter) c.1171G>T (p.Glu391Ter) c.1165G>T (p.Glu389Ter) n.4095G>T n.4081G>T | |
| 15 | g.48756118C>G | CA392342415 | CEP152 | c.3130G>C (p.Glu1044Gln) c.2851G>C (p.Glu951Gln) c.1171G>C (p.Glu391Gln) c.1165G>C (p.Glu389Gln) n.4095G>C n.4081G>C | |
| 15 | g.48756118C>T | CA392342418 | CEP152 | c.3130G>A (p.Glu1044Lys) c.2851G>A (p.Glu951Lys) c.1171G>A (p.Glu391Lys) c.1165G>A (p.Glu389Lys) n.4095G>A n.4081G>A | gnomAD v4 |
| 15 | g.48756119C>A | CA392342422 | CEP152 | c.3129G>T (p.Glu1043Asp) c.2850G>T (p.Glu950Asp) c.1170G>T (p.Glu390Asp) c.1164G>T (p.Glu388Asp) n.4094G>T n.4080G>T | |
| 15 | g.48756119C= | CA2175628551 | CEP152 | c.3129G= (p.Glu1043=) c.2850G= (p.Glu950=) c.1170G= (p.Glu390=) c.1164G= (p.Glu388=) n.4094G= n.4080G= | |
| 15 | g.48756119C>G | CA392342439 | CEP152 | c.3129G>C (p.Glu1043Asp) c.2850G>C (p.Glu950Asp) c.1170G>C (p.Glu390Asp) c.1164G>C (p.Glu388Asp) n.4094G>C n.4080G>C | |
| 15 | g.48756119C>T | CA490311208 | CEP152 | c.3129G>A (p.Glu1043=) c.2850G>A (p.Glu950=) c.1170G>A (p.Glu390=) c.1164G>A (p.Glu388=) n.4094G>A n.4080G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48756120T>A | CA392342446 | CEP152 | c.3128A>T (p.Glu1043Val) c.2849A>T (p.Glu950Val) c.1169A>T (p.Glu390Val) c.1163A>T (p.Glu388Val) n.4093A>T n.4079A>T | |
| 15 | g.48756120T>C | CA392342443 | CEP152 | c.3128A>G (p.Glu1043Gly) c.2849A>G (p.Glu950Gly) c.1169A>G (p.Glu390Gly) c.1163A>G (p.Glu388Gly) n.4093A>G n.4079A>G | |
| 15 | g.48756120T>G | CA392342445 | CEP152 | c.3128A>C (p.Glu1043Ala) c.2849A>C (p.Glu950Ala) c.1169A>C (p.Glu390Ala) c.1163A>C (p.Glu388Ala) n.4093A>C n.4079A>C | |
| 15 | g.48756121C>A | CA392342447 | CEP152 | c.3127G>T (p.Glu1043Ter) c.2848G>T (p.Glu950Ter) c.1168G>T (p.Glu390Ter) c.1162G>T (p.Glu388Ter) n.4092G>T n.4078G>T | |
| 15 | g.48756121C>G | CA392342448 | CEP152 | c.3127G>C (p.Glu1043Gln) c.2848G>C (p.Glu950Gln) c.1168G>C (p.Glu390Gln) c.1162G>C (p.Glu388Gln) n.4092G>C n.4078G>C | |
| 15 | g.48756121C>T | CA392342449 | CEP152 | c.3127G>A (p.Glu1043Lys) c.2848G>A (p.Glu950Lys) c.1168G>A (p.Glu390Lys) c.1162G>A (p.Glu388Lys) n.4092G>A n.4078G>A | gnomAD v4 |
| 15 | g.48756122A= | CA2175628553 | CEP152 | c.3126T= (p.Tyr1042=) c.2847T= (p.Tyr949=) c.1167T= (p.Tyr389=) c.1161T= (p.Tyr387=) n.4091T= n.4077T= | |
| 15 | g.48756122A>C | CA392342452 | CEP152 | c.3126T>G (p.Tyr1042Ter) c.2847T>G (p.Tyr949Ter) c.1167T>G (p.Tyr389Ter) c.1161T>G (p.Tyr387Ter) n.4091T>G n.4077T>G | |
| 15 | g.48756122A>G | CA490311209 | CEP152 | c.3126T>C (p.Tyr1042=) c.2847T>C (p.Tyr949=) c.1167T>C (p.Tyr389=) c.1161T>C (p.Tyr387=) n.4091T>C n.4077T>C | |
| 15 | g.48756122A>T | CA392342454 | CEP152 | c.3126T>A (p.Tyr1042Ter) c.2847T>A (p.Tyr949Ter) c.1167T>A (p.Tyr389Ter) c.1161T>A (p.Tyr387Ter) n.4091T>A n.4077T>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756123T>A | CA392342462 | CEP152 | c.3125A>T (p.Tyr1042Phe) c.2846A>T (p.Tyr949Phe) c.1166A>T (p.Tyr389Phe) c.1160A>T (p.Tyr387Phe) n.4090A>T n.4076A>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756123T>C | CA269537671 | CEP152 | c.3125A>G (p.Tyr1042Cys) c.2846A>G (p.Tyr949Cys) c.1166A>G (p.Tyr389Cys) c.1160A>G (p.Tyr387Cys) n.4090A>G n.4076A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756123T>G | CA392342457 | CEP152 | c.3125A>C (p.Tyr1042Ser) c.2846A>C (p.Tyr949Ser) c.1166A>C (p.Tyr389Ser) c.1160A>C (p.Tyr387Ser) n.4090A>C n.4076A>C | |
| 15 | g.48756123T= | CA2175628556 | CEP152 | c.3125A= (p.Tyr1042=) c.2846A= (p.Tyr949=) c.1166A= (p.Tyr389=) c.1160A= (p.Tyr387=) n.4090A= n.4076A= | |
| 15 | g.48756124A>C | CA392342466 | CEP152 | c.3124T>G (p.Tyr1042Asp) c.2845T>G (p.Tyr949Asp) c.1165T>G (p.Tyr389Asp) c.1159T>G (p.Tyr387Asp) n.4089T>G n.4075T>G | |
| 15 | g.48756124A>G | CA392342469 | CEP152 | c.3124T>C (p.Tyr1042His) c.2845T>C (p.Tyr949His) c.1165T>C (p.Tyr389His) c.1159T>C (p.Tyr387His) n.4089T>C n.4075T>C | |
| 15 | g.48756124A>T | CA392342474 | CEP152 | c.3124T>A (p.Tyr1042Asn) c.2845T>A (p.Tyr949Asn) c.1165T>A (p.Tyr389Asn) c.1159T>A (p.Tyr387Asn) n.4089T>A n.4075T>A | |
| 15 | g.48756125C>A | CA392342478 | CEP152 | c.3123G>T (p.Gln1041His) c.2844G>T (p.Gln948His) c.1164G>T (p.Gln388His) c.1158G>T (p.Gln386His) n.4088G>T n.4074G>T | gnomAD v4 |
| 15 | g.48756125C>G | CA392342480 | CEP152 | c.3123G>C (p.Gln1041His) c.2844G>C (p.Gln948His) c.1164G>C (p.Gln388His) c.1158G>C (p.Gln386His) n.4088G>C n.4074G>C | gnomAD v4 |
| 15 | g.48756125C>T | CA490311210 | CEP152 | c.3123G>A (p.Gln1041=) c.2844G>A (p.Gln948=) c.1164G>A (p.Gln388=) c.1158G>A (p.Gln386=) n.4088G>A n.4074G>A | |
| 15 | g.48756126T>A | CA392342482 | CEP152 | c.3122A>T (p.Gln1041Leu) c.2843A>T (p.Gln948Leu) c.1163A>T (p.Gln388Leu) c.1157A>T (p.Gln386Leu) n.4087A>T n.4073A>T | |
| 15 | g.48756126T>C | CA269537673 | CEP152 | c.3122A>G (p.Gln1041Arg) c.2843A>G (p.Gln948Arg) c.1163A>G (p.Gln388Arg) c.1157A>G (p.Gln386Arg) n.4087A>G n.4073A>G | dbSNP gnomAD v4 |
| 15 | g.48756126T>G | CA392342487 | CEP152 | c.3122A>C (p.Gln1041Pro) c.2843A>C (p.Gln948Pro) c.1163A>C (p.Gln388Pro) c.1157A>C (p.Gln386Pro) n.4087A>C n.4073A>C | dbSNP gnomAD v2 |
| 15 | g.48756126T= | CA2175628563 | CEP152 | c.3122A= (p.Gln1041=) c.2843A= (p.Gln948=) c.1163A= (p.Gln388=) c.1157A= (p.Gln386=) n.4087A= n.4073A= | |
| 15 | g.48756127G>A | CA392342489 | CEP152 | c.3121C>T (p.Gln1041Ter) c.2842C>T (p.Gln948Ter) c.1162C>T (p.Gln388Ter) c.1156C>T (p.Gln386Ter) n.4086C>T n.4072C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756127G>C | CA392342493 | CEP152 | c.3121C>G (p.Gln1041Glu) c.2842C>G (p.Gln948Glu) c.1162C>G (p.Gln388Glu) c.1156C>G (p.Gln386Glu) n.4086C>G n.4072C>G | |
| 15 | g.48756127G= | CA2175628569 | CEP152 | c.3121C= (p.Gln1041=) c.2842C= (p.Gln948=) c.1162C= (p.Gln388=) c.1156C= (p.Gln386=) n.4086C= n.4072C= | |
| 15 | g.48756127G>T | CA392342497 | CEP152 | c.3121C>A (p.Gln1041Lys) c.2842C>A (p.Gln948Lys) c.1162C>A (p.Gln388Lys) c.1156C>A (p.Gln386Lys) n.4086C>A n.4072C>A | gnomAD v4 COSMIC COSMIC |
| 15 | g.48756128A>C | CA392342499 | CEP152 | c.3120T>G (p.Tyr1040Ter) c.2841T>G (p.Tyr947Ter) c.1161T>G (p.Tyr387Ter) c.1155T>G (p.Tyr385Ter) n.4085T>G n.4071T>G | |
| 15 | g.48756128A>G | CA490311211 | CEP152 | c.3120T>C (p.Tyr1040=) c.2841T>C (p.Tyr947=) c.1161T>C (p.Tyr387=) c.1155T>C (p.Tyr385=) n.4085T>C n.4071T>C | gnomAD v4 |
| 15 | g.48756128A>T | CA392342501 | CEP152 | c.3120T>A (p.Tyr1040Ter) c.2841T>A (p.Tyr947Ter) c.1161T>A (p.Tyr387Ter) c.1155T>A (p.Tyr385Ter) n.4085T>A n.4071T>A | |
| 15 | g.48756129T>A | CA392342509 | CEP152 | c.3119A>T (p.Tyr1040Phe) c.2840A>T (p.Tyr947Phe) c.1160A>T (p.Tyr387Phe) c.1154A>T (p.Tyr385Phe) n.4084A>T n.4070A>T | |
| 15 | g.48756129T>C | CA7548415 | CEP152 | c.3119A>G (p.Tyr1040Cys) c.2840A>G (p.Tyr947Cys) c.1160A>G (p.Tyr387Cys) c.1154A>G (p.Tyr385Cys) n.4084A>G n.4070A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756129T>G | CA392342505 | CEP152 | c.3119A>C (p.Tyr1040Ser) c.2840A>C (p.Tyr947Ser) c.1160A>C (p.Tyr387Ser) c.1154A>C (p.Tyr385Ser) n.4084A>C n.4070A>C | |
| 15 | g.48756129T= | CA2175628572 | CEP152 | c.3119A= (p.Tyr1040=) c.2840A= (p.Tyr947=) c.1160A= (p.Tyr387=) c.1154A= (p.Tyr385=) n.4084A= n.4070A= | |
| 15 | g.48756130A>C | CA392342512 | CEP152 | c.3118T>G (p.Tyr1040Asp) c.2839T>G (p.Tyr947Asp) c.1159T>G (p.Tyr387Asp) c.1153T>G (p.Tyr385Asp) n.4083T>G n.4069T>G | |
| 15 | g.48756130A>G | CA392342514 | CEP152 | c.3118T>C (p.Tyr1040His) c.2839T>C (p.Tyr947His) c.1159T>C (p.Tyr387His) c.1153T>C (p.Tyr385His) n.4083T>C n.4069T>C | |
| 15 | g.48756130A>T | CA392342516 | CEP152 | c.3118T>A (p.Tyr1040Asn) c.2839T>A (p.Tyr947Asn) c.1159T>A (p.Tyr387Asn) c.1153T>A (p.Tyr385Asn) n.4083T>A n.4069T>A | |
| 15 | g.48756131G>A | CA7548416 | CEP152 | c.3117C>T (p.Ile1039=) c.2838C>T (p.Ile946=) c.1158C>T (p.Ile386=) c.1152C>T (p.Ile384=) n.4082C>T n.4068C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756131G>C | CA392342518 | CEP152 | c.3117C>G (p.Ile1039Met) c.2838C>G (p.Ile946Met) c.1158C>G (p.Ile386Met) c.1152C>G (p.Ile384Met) n.4082C>G n.4068C>G | dbSNP gnomAD v4 |
| 15 | g.48756131G= | CA2175628577 | CEP152 | c.3117C= (p.Ile1039=) c.2838C= (p.Ile946=) c.1158C= (p.Ile386=) c.1152C= (p.Ile384=) n.4082C= n.4068C= | |
| 15 | g.48756131G>T | CA490311212 | CEP152 | c.3117C>A (p.Ile1039=) c.2838C>A (p.Ile946=) c.1158C>A (p.Ile386=) c.1152C>A (p.Ile384=) n.4082C>A n.4068C>A | |
| 15 | g.48756132A>C | CA392342525 | CEP152 | c.3116T>G (p.Ile1039Ser) c.2837T>G (p.Ile946Ser) c.1157T>G (p.Ile386Ser) c.1151T>G (p.Ile384Ser) n.4081T>G n.4067T>G | |
| 15 | g.48756132A>G | CA392342521 | CEP152 | c.3116T>C (p.Ile1039Thr) c.2837T>C (p.Ile946Thr) c.1157T>C (p.Ile386Thr) c.1151T>C (p.Ile384Thr) n.4081T>C n.4067T>C | |
| 15 | g.48756132A>T | CA392342523 | CEP152 | c.3116T>A (p.Ile1039Asn) c.2837T>A (p.Ile946Asn) c.1157T>A (p.Ile386Asn) c.1151T>A (p.Ile384Asn) n.4081T>A n.4067T>A | |
| 15 | g.48756133T>A | CA392342529 | CEP152 | c.3115A>T (p.Ile1039Phe) c.2836A>T (p.Ile946Phe) c.1156A>T (p.Ile386Phe) c.1150A>T (p.Ile384Phe) n.4080A>T n.4066A>T | |
| 15 | g.48756133T>C | CA392342531 | CEP152 | c.3115A>G (p.Ile1039Val) c.2836A>G (p.Ile946Val) c.1156A>G (p.Ile386Val) c.1150A>G (p.Ile384Val) n.4080A>G n.4066A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756133T>G | CA392342533 | CEP152 | c.3115A>C (p.Ile1039Leu) c.2836A>C (p.Ile946Leu) c.1156A>C (p.Ile386Leu) c.1150A>C (p.Ile384Leu) n.4080A>C n.4066A>C | |
| 15 | g.48756133T= | CA2175628581 | CEP152 | c.3115A= (p.Ile1039=) c.2836A= (p.Ile946=) c.1156A= (p.Ile386=) c.1150A= (p.Ile384=) n.4080A= n.4066A= | |
| 15 | g.48756134T>A | CA392342535 | CEP152 | c.3114A>T (p.Glu1038Asp) c.2835A>T (p.Glu945Asp) c.1155A>T (p.Glu385Asp) c.1149A>T (p.Glu383Asp) n.4079A>T n.4065A>T | |
| 15 | g.48756134T>C | CA490311213 | CEP152 | c.3114A>G (p.Glu1038=) c.2835A>G (p.Glu945=) c.1155A>G (p.Glu385=) c.1149A>G (p.Glu383=) n.4079A>G n.4065A>G | |
| 15 | g.48756134T>G | CA392342538 | CEP152 | c.3114A>C (p.Glu1038Asp) c.2835A>C (p.Glu945Asp) c.1155A>C (p.Glu385Asp) c.1149A>C (p.Glu383Asp) n.4079A>C n.4065A>C | |
| 15 | g.48756135T>A | CA392342541 | CEP152 | c.3113A>T (p.Glu1038Val) c.2834A>T (p.Glu945Val) c.1154A>T (p.Glu385Val) c.1148A>T (p.Glu383Val) n.4078A>T n.4064A>T | |
| 15 | g.48756135T>C | CA392342546 | CEP152 | c.3113A>G (p.Glu1038Gly) c.2834A>G (p.Glu945Gly) c.1154A>G (p.Glu385Gly) c.1148A>G (p.Glu383Gly) n.4078A>G n.4064A>G | |
| 15 | g.48756135T>G | CA392342544 | CEP152 | c.3113A>C (p.Glu1038Ala) c.2834A>C (p.Glu945Ala) c.1154A>C (p.Glu385Ala) c.1148A>C (p.Glu383Ala) n.4078A>C n.4064A>C | |
| 15 | g.48756136C>A | CA392342548 | CEP152 | c.3112G>T (p.Glu1038Ter) c.2833G>T (p.Glu945Ter) c.1153G>T (p.Glu385Ter) c.1147G>T (p.Glu383Ter) n.4077G>T n.4063G>T | |
| 15 | g.48756136C>G | CA392342553 | CEP152 | c.3112G>C (p.Glu1038Gln) c.2833G>C (p.Glu945Gln) c.1153G>C (p.Glu385Gln) c.1147G>C (p.Glu383Gln) n.4077G>C n.4063G>C | |
| 15 | g.48756136C>T | CA392342550 | CEP152 | c.3112G>A (p.Glu1038Lys) c.2833G>A (p.Glu945Lys) c.1153G>A (p.Glu385Lys) c.1147G>A (p.Glu383Lys) n.4077G>A n.4063G>A | |
| 15 | g.48756137C>A | CA490311216 | CEP152 | c.3111G>T (p.Leu1037=) c.2832G>T (p.Leu944=) c.1152G>T (p.Leu384=) c.1146G>T (p.Leu382=) n.4076G>T n.4062G>T | |
| 15 | g.48756137C= | CA2175628584 | CEP152 | c.3111G= (p.Leu1037=) c.2832G= (p.Leu944=) c.1152G= (p.Leu384=) c.1146G= (p.Leu382=) n.4076G= n.4062G= | |
| 15 | g.48756137C>G | CA490311214 | CEP152 | c.3111G>C (p.Leu1037=) c.2832G>C (p.Leu944=) c.1152G>C (p.Leu384=) c.1146G>C (p.Leu382=) n.4076G>C n.4062G>C | |
| 15 | g.48756137C>T | CA490311215 | CEP152 | c.3111G>A (p.Leu1037=) c.2832G>A (p.Leu944=) c.1152G>A (p.Leu384=) c.1146G>A (p.Leu382=) n.4076G>A n.4062G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756138A>C | CA392342554 | CEP152 | c.3110T>G (p.Leu1037Arg) c.2831T>G (p.Leu944Arg) c.1151T>G (p.Leu384Arg) c.1145T>G (p.Leu382Arg) n.4075T>G n.4061T>G | |
| 15 | g.48756138A>G | CA392342559 | CEP152 | c.3110T>C (p.Leu1037Pro) c.2831T>C (p.Leu944Pro) c.1151T>C (p.Leu384Pro) c.1145T>C (p.Leu382Pro) n.4075T>C n.4061T>C | |
| 15 | g.48756138A>T | CA392342556 | CEP152 | c.3110T>A (p.Leu1037Gln) c.2831T>A (p.Leu944Gln) c.1151T>A (p.Leu384Gln) c.1145T>A (p.Leu382Gln) n.4075T>A n.4061T>A | |
| 15 | g.48756139G>A | CA7548417 | CEP152 | c.3109C>T (p.Leu1037=) c.2830C>T (p.Leu944=) c.1150C>T (p.Leu384=) c.1144C>T (p.Leu382=) n.4074C>T n.4060C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756139G>C | CA392342565 | CEP152 | c.3109C>G (p.Leu1037Val) c.2830C>G (p.Leu944Val) c.1150C>G (p.Leu384Val) c.1144C>G (p.Leu382Val) n.4074C>G n.4060C>G | |
| 15 | g.48756139G= | CA2175628586 | CEP152 | c.3109C= (p.Leu1037=) c.2830C= (p.Leu944=) c.1150C= (p.Leu384=) c.1144C= (p.Leu382=) n.4074C= n.4060C= | |
| 15 | g.48756139G>T | CA392342562 | CEP152 | c.3109C>A (p.Leu1037Met) c.2830C>A (p.Leu944Met) c.1150C>A (p.Leu384Met) c.1144C>A (p.Leu382Met) n.4074C>A n.4060C>A | dbSNP |
| 15 | g.48756140T>A | CA392342569 | CEP152 | c.3108A>T (p.Gln1036His) c.2829A>T (p.Gln943His) c.1149A>T (p.Gln383His) c.1143A>T (p.Gln381His) n.4073A>T n.4059A>T | |
| 15 | g.48756140T>C | CA490311217 | CEP152 | c.3108A>G (p.Gln1036=) c.2829A>G (p.Gln943=) c.1149A>G (p.Gln383=) c.1143A>G (p.Gln381=) n.4073A>G n.4059A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756140T>G | CA392342571 | CEP152 | c.3108A>C (p.Gln1036His) c.2829A>C (p.Gln943His) c.1149A>C (p.Gln383His) c.1143A>C (p.Gln381His) n.4073A>C n.4059A>C | gnomAD v4 |
| 15 | g.48756140T= | CA2175628589 | CEP152 | c.3108A= (p.Gln1036=) c.2829A= (p.Gln943=) c.1149A= (p.Gln383=) c.1143A= (p.Gln381=) n.4073A= n.4059A= | |
| 15 | g.48756141T>A | CA392342574 | CEP152 | c.3107A>T (p.Gln1036Leu) c.2828A>T (p.Gln943Leu) c.1148A>T (p.Gln383Leu) c.1142A>T (p.Gln381Leu) n.4072A>T n.4058A>T | |
| 15 | g.48756141T>C | CA392342575 | CEP152 | c.3107A>G (p.Gln1036Arg) c.2828A>G (p.Gln943Arg) c.1148A>G (p.Gln383Arg) c.1142A>G (p.Gln381Arg) n.4072A>G n.4058A>G | gnomAD v4 |
| 15 | g.48756141T>G | CA392342577 | CEP152 | c.3107A>C (p.Gln1036Pro) c.2828A>C (p.Gln943Pro) c.1148A>C (p.Gln383Pro) c.1142A>C (p.Gln381Pro) n.4072A>C n.4058A>C | |
| 15 | g.48756142G>A | CA392342580 | CEP152 | c.3106C>T (p.Gln1036Ter) c.2827C>T (p.Gln943Ter) c.1147C>T (p.Gln383Ter) c.1141C>T (p.Gln381Ter) n.4071C>T n.4057C>T | |
| 15 | g.48756142G>C | CA392342583 | CEP152 | c.3106C>G (p.Gln1036Glu) c.2827C>G (p.Gln943Glu) c.1147C>G (p.Gln383Glu) c.1141C>G (p.Gln381Glu) n.4071C>G n.4057C>G | |
| 15 | g.48756142G>T | CA392342584 | CEP152 | c.3106C>A (p.Gln1036Lys) c.2827C>A (p.Gln943Lys) c.1147C>A (p.Gln383Lys) c.1141C>A (p.Gln381Lys) n.4071C>A n.4057C>A | |
| 15 | g.48756143G>A | CA490311219 | CEP152 | c.3105C>T (p.Ile1035=) c.2826C>T (p.Ile942=) c.1146C>T (p.Ile382=) c.1140C>T (p.Ile380=) n.4070C>T n.4056C>T | dbSNP gnomAD v4 |
| 15 | g.48756143G>C | CA392342586 | CEP152 | c.3105C>G (p.Ile1035Met) c.2826C>G (p.Ile942Met) c.1146C>G (p.Ile382Met) c.1140C>G (p.Ile380Met) n.4070C>G n.4056C>G | |
| 15 | g.48756143G= | CA2175628592 | CEP152 | c.3105C= (p.Ile1035=) c.2826C= (p.Ile942=) c.1146C= (p.Ile382=) c.1140C= (p.Ile380=) n.4070C= n.4056C= | |
| 15 | g.48756143G>T | CA490311218 | CEP152 | c.3105C>A (p.Ile1035=) c.2826C>A (p.Ile942=) c.1146C>A (p.Ile382=) c.1140C>A (p.Ile380=) n.4070C>A n.4056C>A | |
| 15 | g.48756144A>C | CA392342590 | CEP152 | c.3104T>G (p.Ile1035Ser) c.2825T>G (p.Ile942Ser) c.1145T>G (p.Ile382Ser) c.1139T>G (p.Ile380Ser) n.4069T>G n.4055T>G | |
| 15 | g.48756144A>G | CA392342593 | CEP152 | c.3104T>C (p.Ile1035Thr) c.2825T>C (p.Ile942Thr) c.1145T>C (p.Ile382Thr) c.1139T>C (p.Ile380Thr) n.4069T>C n.4055T>C | |
| 15 | g.48756144A>T | CA392342594 | CEP152 | c.3104T>A (p.Ile1035Asn) c.2825T>A (p.Ile942Asn) c.1145T>A (p.Ile382Asn) c.1139T>A (p.Ile380Asn) n.4069T>A n.4055T>A | |
| 15 | g.48756145T>A | CA392342595 | CEP152 | c.3103A>T (p.Ile1035Phe) c.2824A>T (p.Ile942Phe) c.1144A>T (p.Ile382Phe) c.1138A>T (p.Ile380Phe) n.4068A>T n.4054A>T | |
| 15 | g.48756145T>C | CA392342596 | CEP152 | c.3103A>G (p.Ile1035Val) c.2824A>G (p.Ile942Val) c.1144A>G (p.Ile382Val) c.1138A>G (p.Ile380Val) n.4068A>G n.4054A>G | gnomAD v4 |
| 15 | g.48756145T>G | CA392342597 | CEP152 | c.3103A>C (p.Ile1035Leu) c.2824A>C (p.Ile942Leu) c.1144A>C (p.Ile382Leu) c.1138A>C (p.Ile380Leu) n.4068A>C n.4054A>C | |
| 15 | g.48756146C>A | CA490311220 | CEP152 | c.3102G>T (p.Arg1034=) c.2823G>T (p.Arg941=) c.1143G>T (p.Arg381=) c.1137G>T (p.Arg379=) n.4067G>T n.4053G>T | |
| 15 | g.48756146C>G | CA490311221 | CEP152 | c.3102G>C (p.Arg1034=) c.2823G>C (p.Arg941=) c.1143G>C (p.Arg381=) c.1137G>C (p.Arg379=) n.4067G>C n.4053G>C | |
| 15 | g.48756146C>T | CA490311222 | CEP152 | c.3102G>A (p.Arg1034=) c.2823G>A (p.Arg941=) c.1143G>A (p.Arg381=) c.1137G>A (p.Arg379=) n.4067G>A n.4053G>A | |
| 15 | g.48756147C>A | CA392342601 | CEP152 | c.3101G>T (p.Arg1034Leu) c.2822G>T (p.Arg941Leu) c.1142G>T (p.Arg381Leu) c.1136G>T (p.Arg379Leu) n.4066G>T n.4052G>T | |
| 15 | g.48756147C= | CA2175628596 | CEP152 | c.3101G= (p.Arg1034=) c.2822G= (p.Arg941=) c.1142G= (p.Arg381=) c.1136G= (p.Arg379=) n.4066G= n.4052G= | |
| 15 | g.48756147C>G | CA392342599 | CEP152 | c.3101G>C (p.Arg1034Pro) c.2822G>C (p.Arg941Pro) c.1142G>C (p.Arg381Pro) c.1136G>C (p.Arg379Pro) n.4066G>C n.4052G>C | |
| 15 | g.48756147C>T | CA269537715 | CEP152 | c.3101G>A (p.Arg1034Gln) c.2822G>A (p.Arg941Gln) c.1142G>A (p.Arg381Gln) c.1136G>A (p.Arg379Gln) n.4066G>A n.4052G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48756148G>A | CA7548418 | CEP152 | c.3100C>T (p.Arg1034Trp) c.2821C>T (p.Arg941Trp) c.1141C>T (p.Arg381Trp) c.1135C>T (p.Arg379Trp) n.4065C>T n.4051C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.48756148G>C | CA392342605 | CEP152 | c.3100C>G (p.Arg1034Gly) c.2821C>G (p.Arg941Gly) c.1141C>G (p.Arg381Gly) c.1135C>G (p.Arg379Gly) n.4065C>G n.4051C>G | gnomAD v4 |
| 15 | g.48756148G= | CA2175628602 | CEP152 | c.3100C= (p.Arg1034=) c.2821C= (p.Arg941=) c.1141C= (p.Arg381=) c.1135C= (p.Arg379=) n.4065C= n.4051C= | |
| 15 | g.48756148G>T | CA490311223 | CEP152 | c.3100C>A (p.Arg1034=) c.2821C>A (p.Arg941=) c.1141C>A (p.Arg381=) c.1135C>A (p.Arg379=) n.4065C>A n.4051C>A | dbSNP |
| 15 | g.48756149C>A | CA392342608 | CEP152 | c.3099G>T (p.Lys1033Asn) c.2820G>T (p.Lys940Asn) c.1140G>T (p.Lys380Asn) c.1134G>T (p.Lys378Asn) n.4064G>T n.4050G>T | |
| 15 | g.48756149C>G | CA392342610 | CEP152 | c.3099G>C (p.Lys1033Asn) c.2820G>C (p.Lys940Asn) c.1140G>C (p.Lys380Asn) c.1134G>C (p.Lys378Asn) n.4064G>C n.4050G>C | |
| 15 | g.48756149C>T | CA490311224 | CEP152 | c.3099G>A (p.Lys1033=) c.2820G>A (p.Lys940=) c.1140G>A (p.Lys380=) c.1134G>A (p.Lys378=) n.4064G>A n.4050G>A | |
| 15 | g.48756150T>A | CA392342612 | CEP152 | c.3098A>T (p.Lys1033Met) c.2819A>T (p.Lys940Met) c.1139A>T (p.Lys380Met) c.1133A>T (p.Lys378Met) n.4063A>T n.4049A>T | |
| 15 | g.48756150T>C | CA269537724 | CEP152 | c.3098A>G (p.Lys1033Arg) c.2819A>G (p.Lys940Arg) c.1139A>G (p.Lys380Arg) c.1133A>G (p.Lys378Arg) n.4063A>G n.4049A>G | dbSNP gnomAD v4 COSMIC COSMIC |
| 15 | g.48756150T>G | CA392342616 | CEP152 | c.3098A>C (p.Lys1033Thr) c.2819A>C (p.Lys940Thr) c.1139A>C (p.Lys380Thr) c.1133A>C (p.Lys378Thr) n.4063A>C n.4049A>C | |
| 15 | g.48756150T= | CA2175628604 | CEP152 | c.3098A= (p.Lys1033=) c.2819A= (p.Lys940=) c.1139A= (p.Lys380=) c.1133A= (p.Lys378=) n.4063A= n.4049A= | |
| 15 | g.48756151T>A | CA392342619 | CEP152 | c.3097A>T (p.Lys1033Ter) c.2818A>T (p.Lys940Ter) c.1138A>T (p.Lys380Ter) c.1132A>T (p.Lys378Ter) n.4062A>T n.4048A>T | |
| 15 | g.48756151T>C | CA392342621 | CEP152 | c.3097A>G (p.Lys1033Glu) c.2818A>G (p.Lys940Glu) c.1138A>G (p.Lys380Glu) c.1132A>G (p.Lys378Glu) n.4062A>G n.4048A>G | |
| 15 | g.48756151T>G | CA392342623 | CEP152 | c.3097A>C (p.Lys1033Gln) c.2818A>C (p.Lys940Gln) c.1138A>C (p.Lys380Gln) c.1132A>C (p.Lys378Gln) n.4062A>C n.4048A>C | |
| 15 | g.48756152G>A | CA490311225 | CEP152 | c.3096C>T (p.Ala1032=) c.2817C>T (p.Ala939=) c.1137C>T (p.Ala379=) c.1131C>T (p.Ala377=) n.4061C>T n.4047C>T | |
| 15 | g.48756152G>C | CA490311226 | CEP152 | c.3096C>G (p.Ala1032=) c.2817C>G (p.Ala939=) c.1137C>G (p.Ala379=) c.1131C>G (p.Ala377=) n.4061C>G n.4047C>G | gnomAD v4 |
| 15 | g.48756152G>T | CA490311227 | CEP152 | c.3096C>A (p.Ala1032=) c.2817C>A (p.Ala939=) c.1137C>A (p.Ala379=) c.1131C>A (p.Ala377=) n.4061C>A n.4047C>A | |
| 15 | g.48756153G>A | CA392342626 | CEP152 | c.3095C>T (p.Ala1032Val) c.2816C>T (p.Ala939Val) c.1136C>T (p.Ala379Val) c.1130C>T (p.Ala377Val) n.4060C>T n.4046C>T | |
| 15 | g.48756153G>C | CA392342628 | CEP152 | c.3095C>G (p.Ala1032Gly) c.2816C>G (p.Ala939Gly) c.1136C>G (p.Ala379Gly) c.1130C>G (p.Ala377Gly) n.4060C>G n.4046C>G | |
| 15 | g.48756153G>T | CA392342629 | CEP152 | c.3095C>A (p.Ala1032Asp) c.2816C>A (p.Ala939Asp) c.1136C>A (p.Ala379Asp) c.1130C>A (p.Ala377Asp) n.4060C>A n.4046C>A | |
| 15 | g.48756154C>A | CA392342633 | CEP152 | c.3094G>T (p.Ala1032Ser) c.2815G>T (p.Ala939Ser) c.1135G>T (p.Ala379Ser) c.1129G>T (p.Ala377Ser) n.4059G>T n.4045G>T | |
| 15 | g.48756154C>G | CA392342638 | CEP152 | c.3094G>C (p.Ala1032Pro) c.2815G>C (p.Ala939Pro) c.1135G>C (p.Ala379Pro) c.1129G>C (p.Ala377Pro) n.4059G>C n.4045G>C | |
| 15 | g.48756154C>T | CA392342635 | CEP152 | c.3094G>A (p.Ala1032Thr) c.2815G>A (p.Ala939Thr) c.1135G>A (p.Ala379Thr) c.1129G>A (p.Ala377Thr) n.4059G>A n.4045G>A | |
| 15 | g.48756155T>A | CA392342641 | CEP152 | c.3093A>T (p.Glu1031Asp) c.2814A>T (p.Glu938Asp) c.1134A>T (p.Glu378Asp) c.1128A>T (p.Glu376Asp) n.4058A>T n.4044A>T | |
| 15 | g.48756155T>C | CA490311228 | CEP152 | c.3093A>G (p.Glu1031=) c.2814A>G (p.Glu938=) c.1134A>G (p.Glu378=) c.1128A>G (p.Glu376=) n.4058A>G n.4044A>G | |
| 15 | g.48756155T>G | CA392342643 | CEP152 | c.3093A>C (p.Glu1031Asp) c.2814A>C (p.Glu938Asp) c.1134A>C (p.Glu378Asp) c.1128A>C (p.Glu376Asp) n.4058A>C n.4044A>C | |
| 15 | g.48756156T>A | CA392342646 | CEP152 | c.3092A>T (p.Glu1031Val) c.2813A>T (p.Glu938Val) c.1133A>T (p.Glu378Val) c.1127A>T (p.Glu376Val) n.4057A>T n.4043A>T | |
| 15 | g.48756156T>C | CA392342647 | CEP152 | c.3092A>G (p.Glu1031Gly) c.2813A>G (p.Glu938Gly) c.1133A>G (p.Glu378Gly) c.1127A>G (p.Glu376Gly) n.4057A>G n.4043A>G | |
| 15 | g.48756156T>G | CA392342648 | CEP152 | c.3092A>C (p.Glu1031Ala) c.2813A>C (p.Glu938Ala) c.1133A>C (p.Glu378Ala) c.1127A>C (p.Glu376Ala) n.4057A>C n.4043A>C | |
| 15 | g.48756157C>A | CA392342649 | CEP152 | c.3091G>T (p.Glu1031Ter) c.2812G>T (p.Glu938Ter) c.1132G>T (p.Glu378Ter) c.1126G>T (p.Glu376Ter) n.4056G>T n.4042G>T | |
| 15 | g.48756157C>G | CA392342651 | CEP152 | c.3091G>C (p.Glu1031Gln) c.2812G>C (p.Glu938Gln) c.1132G>C (p.Glu378Gln) c.1126G>C (p.Glu376Gln) n.4056G>C n.4042G>C | |
| 15 | g.48756157C>T | CA392342652 | CEP152 | c.3091G>A (p.Glu1031Lys) c.2812G>A (p.Glu938Lys) c.1132G>A (p.Glu378Lys) c.1126G>A (p.Glu376Lys) n.4056G>A n.4042G>A | |
| 15 | g.48756158C>A | CA392342653 | CEP152 | c.3090G>T (p.Gln1030His) c.2811G>T (p.Gln937His) c.1131G>T (p.Gln377His) c.1125G>T (p.Gln375His) n.4055G>T n.4041G>T | |
| 15 | g.48756158C>G | CA392342654 | CEP152 | c.3090G>C (p.Gln1030His) c.2811G>C (p.Gln937His) c.1131G>C (p.Gln377His) c.1125G>C (p.Gln375His) n.4055G>C n.4041G>C | |
| 15 | g.48756158C>T | CA490311229 | CEP152 | c.3090G>A (p.Gln1030=) c.2811G>A (p.Gln937=) c.1131G>A (p.Gln377=) c.1125G>A (p.Gln375=) n.4055G>A n.4041G>A | gnomAD v4 |
| 15 | g.48756159T>A | CA392342656 | CEP152 | c.3089A>T (p.Gln1030Leu) c.2810A>T (p.Gln937Leu) c.1130A>T (p.Gln377Leu) c.1124A>T (p.Gln375Leu) n.4054A>T n.4040A>T | |
| 15 | g.48756159T>C | CA392342658 | CEP152 | c.3089A>G (p.Gln1030Arg) c.2810A>G (p.Gln937Arg) c.1130A>G (p.Gln377Arg) c.1124A>G (p.Gln375Arg) n.4054A>G n.4040A>G | |
| 15 | g.48756159T>G | CA392342659 | CEP152 | c.3089A>C (p.Gln1030Pro) c.2810A>C (p.Gln937Pro) c.1130A>C (p.Gln377Pro) c.1124A>C (p.Gln375Pro) n.4054A>C n.4040A>C | |
| 15 | g.48756160G>A | CA392342664 | CEP152 | c.3088C>T (p.Gln1030Ter) c.2809C>T (p.Gln937Ter) c.1129C>T (p.Gln377Ter) c.1123C>T (p.Gln375Ter) n.4053C>T n.4039C>T | |
| 15 | g.48756160G>C | CA392342661 | CEP152 | c.3088C>G (p.Gln1030Glu) c.2809C>G (p.Gln937Glu) c.1129C>G (p.Gln377Glu) c.1123C>G (p.Gln375Glu) n.4053C>G n.4039C>G | |
| 15 | g.48756160G>T | CA392342663 | CEP152 | c.3088C>A (p.Gln1030Lys) c.2809C>A (p.Gln937Lys) c.1129C>A (p.Gln377Lys) c.1123C>A (p.Gln375Lys) n.4053C>A n.4039C>A | |
| 15 | g.48756161C>A | CA392342665 | CEP152 | c.3087G>T (p.Met1029Ile) c.2808G>T (p.Met936Ile) c.1128G>T (p.Met376Ile) c.1122G>T (p.Met374Ile) n.4052G>T n.4038G>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48756161C= | CA2175628607 | CEP152 | c.3087G= (p.Met1029=) c.2808G= (p.Met936=) c.1128G= (p.Met376=) c.1122G= (p.Met374=) n.4052G= n.4038G= | |
| 15 | g.48756161C>G | CA392342667 | CEP152 | c.3087G>C (p.Met1029Ile) c.2808G>C (p.Met936Ile) c.1128G>C (p.Met376Ile) c.1122G>C (p.Met374Ile) n.4052G>C n.4038G>C | |
| 15 | g.48756161C>T | CA392342671 | CEP152 | c.3087G>A (p.Met1029Ile) c.2808G>A (p.Met936Ile) c.1128G>A (p.Met376Ile) c.1122G>A (p.Met374Ile) n.4052G>A n.4038G>A | dbSNP |
| 15 | g.48756162A= | CA2175628611 | CEP152 | c.3086T= (p.Met1029=) c.2807T= (p.Met936=) c.1127T= (p.Met376=) c.1121T= (p.Met374=) n.4051T= n.4037T= | |
| 15 | g.48756162A>C | CA392342674 | CEP152 | c.3086T>G (p.Met1029Arg) c.2807T>G (p.Met936Arg) c.1127T>G (p.Met376Arg) c.1121T>G (p.Met374Arg) n.4051T>G n.4037T>G | |
| 15 | g.48756162A>G | CA7548419 | CEP152 | c.3086T>C (p.Met1029Thr) c.2807T>C (p.Met936Thr) c.1127T>C (p.Met376Thr) c.1121T>C (p.Met374Thr) n.4051T>C n.4037T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756162A>T | CA392342676 | CEP152 | c.3086T>A (p.Met1029Lys) c.2807T>A (p.Met936Lys) c.1127T>A (p.Met376Lys) c.1121T>A (p.Met374Lys) n.4051T>A n.4037T>A | gnomAD v4 |
| 15 | g.48756163T>A | CA392342678 | CEP152 | c.3085A>T (p.Met1029Leu) c.2806A>T (p.Met936Leu) c.1126A>T (p.Met376Leu) c.1120A>T (p.Met374Leu) n.4050A>T n.4036A>T | |
| 15 | g.48756163T>C | CA211051 | CEP152 | c.3085A>G (p.Met1029Val) c.2806A>G (p.Met936Val) c.1126A>G (p.Met376Val) c.1120A>G (p.Met374Val) n.4050A>G n.4036A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756163T>G | CA392342680 | CEP152 | c.3085A>C (p.Met1029Leu) c.2806A>C (p.Met936Leu) c.1126A>C (p.Met376Leu) c.1120A>C (p.Met374Leu) n.4050A>C n.4036A>C | gnomAD v4 |
| 15 | g.48756163T= | CA2175628616 | CEP152 | c.3085A= (p.Met1029=) c.2806A= (p.Met936=) c.1126A= (p.Met376=) c.1120A= (p.Met374=) n.4050A= n.4036A= | |
| 15 | g.48756164A= | CA2175628621 | CEP152 | c.3084T= (p.Thr1028=) c.2805T= (p.Thr935=) c.1125T= (p.Thr375=) c.1119T= (p.Thr373=) n.4049T= n.4035T= | |
| 15 | g.48756164A>C | CA490311230 | CEP152 | c.3084T>G (p.Thr1028=) c.2805T>G (p.Thr935=) c.1125T>G (p.Thr375=) c.1119T>G (p.Thr373=) n.4049T>G n.4035T>G | |
| 15 | g.48756164A>G | CA490311232 | CEP152 | c.3084T>C (p.Thr1028=) c.2805T>C (p.Thr935=) c.1125T>C (p.Thr375=) c.1119T>C (p.Thr373=) n.4049T>C n.4035T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756164A>T | CA490311231 | CEP152 | c.3084T>A (p.Thr1028=) c.2805T>A (p.Thr935=) c.1125T>A (p.Thr375=) c.1119T>A (p.Thr373=) n.4049T>A n.4035T>A | |
| 15 | g.48756165G>A | CA392342683 | CEP152 | c.3083C>T (p.Thr1028Ile) c.2804C>T (p.Thr935Ile) c.1124C>T (p.Thr375Ile) c.1118C>T (p.Thr373Ile) n.4048C>T n.4034C>T | |
| 15 | g.48756165G>C | CA392342684 | CEP152 | c.3083C>G (p.Thr1028Ser) c.2804C>G (p.Thr935Ser) c.1124C>G (p.Thr375Ser) c.1118C>G (p.Thr373Ser) n.4048C>G n.4034C>G | |
| 15 | g.48756165G>T | CA392342685 | CEP152 | c.3083C>A (p.Thr1028Asn) c.2804C>A (p.Thr935Asn) c.1124C>A (p.Thr375Asn) c.1118C>A (p.Thr373Asn) n.4048C>A n.4034C>A | |
| 15 | g.48756166T>A | CA392342686 | CEP152 | c.3082A>T (p.Thr1028Ser) c.2803A>T (p.Thr935Ser) c.1123A>T (p.Thr375Ser) c.1117A>T (p.Thr373Ser) n.4047A>T n.4033A>T | dbSNP gnomAD v4 |
| 15 | g.48756166T>C | CA392342689 | CEP152 | c.3082A>G (p.Thr1028Ala) c.2803A>G (p.Thr935Ala) c.1123A>G (p.Thr375Ala) c.1117A>G (p.Thr373Ala) n.4047A>G n.4033A>G | |
| 15 | g.48756166T>G | CA392342687 | CEP152 | c.3082A>C (p.Thr1028Pro) c.2803A>C (p.Thr935Pro) c.1123A>C (p.Thr375Pro) c.1117A>C (p.Thr373Pro) n.4047A>C n.4033A>C | |
| 15 | g.48756166T= | CA2175628623 | CEP152 | c.3082A= (p.Thr1028=) c.2803A= (p.Thr935=) c.1123A= (p.Thr375=) c.1117A= (p.Thr373=) n.4047A= n.4033A= | |
| 15 | g.48756167C>A | CA392342691 | CEP152 | c.3081G>T (p.Trp1027Cys) c.2802G>T (p.Trp934Cys) c.1122G>T (p.Trp374Cys) c.1116G>T (p.Trp372Cys) n.4046G>T n.4032G>T | |
| 15 | g.48756167C>G | CA392342694 | CEP152 | c.3081G>C (p.Trp1027Cys) c.2802G>C (p.Trp934Cys) c.1122G>C (p.Trp374Cys) c.1116G>C (p.Trp372Cys) n.4046G>C n.4032G>C | |
| 15 | g.48756167C>T | CA392342693 | CEP152 | c.3081G>A (p.Trp1027Ter) c.2802G>A (p.Trp934Ter) c.1122G>A (p.Trp374Ter) c.1116G>A (p.Trp372Ter) n.4046G>A n.4032G>A | |
| 15 | g.48756168C>A | CA392342696 | CEP152 | c.3080G>T (p.Trp1027Leu) c.2801G>T (p.Trp934Leu) c.1121G>T (p.Trp374Leu) c.1115G>T (p.Trp372Leu) n.4045G>T n.4031G>T | |
| 15 | g.48756168C>G | CA392342697 | CEP152 | c.3080G>C (p.Trp1027Ser) c.2801G>C (p.Trp934Ser) c.1121G>C (p.Trp374Ser) c.1115G>C (p.Trp372Ser) n.4045G>C n.4031G>C | |
| 15 | g.48756168C>T | CA392342698 | CEP152 | c.3080G>A (p.Trp1027Ter) c.2801G>A (p.Trp934Ter) c.1121G>A (p.Trp374Ter) c.1115G>A (p.Trp372Ter) n.4045G>A n.4031G>A | |
| 15 | g.48756169A>C | CA392342700 | CEP152 | c.3079T>G (p.Trp1027Gly) c.2800T>G (p.Trp934Gly) c.1120T>G (p.Trp374Gly) c.1114T>G (p.Trp372Gly) n.4044T>G n.4030T>G | |
| 15 | g.48756169A>G | CA392342702 | CEP152 | c.3079T>C (p.Trp1027Arg) c.2800T>C (p.Trp934Arg) c.1120T>C (p.Trp374Arg) c.1114T>C (p.Trp372Arg) n.4044T>C n.4030T>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48756169A>T | CA392342704 | CEP152 | c.3079T>A (p.Trp1027Arg) c.2800T>A (p.Trp934Arg) c.1120T>A (p.Trp374Arg) c.1114T>A (p.Trp372Arg) n.4044T>A n.4030T>A | |
| 15 | g.48756170T>A | CA392342705 | CEP152 | c.3078A>T (p.Glu1026Asp) c.2799A>T (p.Glu933Asp) c.1119A>T (p.Glu373Asp) c.1113A>T (p.Glu371Asp) n.4043A>T n.4029A>T | |
| 15 | g.48756170T>C | CA490311233 | CEP152 | c.3078A>G (p.Glu1026=) c.2799A>G (p.Glu933=) c.1119A>G (p.Glu373=) c.1113A>G (p.Glu371=) n.4043A>G n.4029A>G | |
| 15 | g.48756170T>G | CA392342706 | CEP152 | c.3078A>C (p.Glu1026Asp) c.2799A>C (p.Glu933Asp) c.1119A>C (p.Glu373Asp) c.1113A>C (p.Glu371Asp) n.4043A>C n.4029A>C | |
| 15 | g.48756171T>A | CA392342707 | CEP152 | c.3077A>T (p.Glu1026Val) c.2798A>T (p.Glu933Val) c.1118A>T (p.Glu373Val) c.1112A>T (p.Glu371Val) n.4042A>T n.4028A>T | |
| 15 | g.48756171T>C | CA392342708 | CEP152 | c.3077A>G (p.Glu1026Gly) c.2798A>G (p.Glu933Gly) c.1118A>G (p.Glu373Gly) c.1112A>G (p.Glu371Gly) n.4042A>G n.4028A>G | |
| 15 | g.48756171T>G | CA392342710 | CEP152 | c.3077A>C (p.Glu1026Ala) c.2798A>C (p.Glu933Ala) c.1118A>C (p.Glu373Ala) c.1112A>C (p.Glu371Ala) n.4042A>C n.4028A>C | |
| 15 | g.48756172C>A | CA392342714 | CEP152 | c.3076G>T (p.Glu1026Ter) c.2797G>T (p.Glu933Ter) c.1117G>T (p.Glu373Ter) c.1111G>T (p.Glu371Ter) n.4041G>T n.4027G>T | gnomAD v4 |
| 15 | g.48756172C>G | CA392342713 | CEP152 | c.3076G>C (p.Glu1026Gln) c.2797G>C (p.Glu933Gln) c.1117G>C (p.Glu373Gln) c.1111G>C (p.Glu371Gln) n.4041G>C n.4027G>C | |
| 15 | g.48756172C>T | CA392342712 | CEP152 | c.3076G>A (p.Glu1026Lys) c.2797G>A (p.Glu933Lys) c.1117G>A (p.Glu373Lys) c.1111G>A (p.Glu371Lys) n.4041G>A n.4027G>A | |
| 15 | g.48756173T>A | CA392342715 | CEP152 | c.3075A>T (p.Arg1025Ser) c.2796A>T (p.Arg932Ser) c.1116A>T (p.Arg372Ser) c.1110A>T (p.Arg370Ser) n.4040A>T n.4026A>T | gnomAD v4 |
| 15 | g.48756173T>C | CA490311234 | CEP152 | c.3075A>G (p.Arg1025=) c.2796A>G (p.Arg932=) c.1116A>G (p.Arg372=) c.1110A>G (p.Arg370=) n.4040A>G n.4026A>G | |
| 15 | g.48756173T>G | CA392342716 | CEP152 | c.3075A>C (p.Arg1025Ser) c.2796A>C (p.Arg932Ser) c.1116A>C (p.Arg372Ser) c.1110A>C (p.Arg370Ser) n.4040A>C n.4026A>C | |
| 15 | g.48756174C>A | CA392342717 | CEP152 | c.3074G>T (p.Arg1025Ile) c.2795G>T (p.Arg932Ile) c.1115G>T (p.Arg372Ile) c.1109G>T (p.Arg370Ile) n.4039G>T n.4025G>T | |
| 15 | g.48756174C>G | CA392342718 | CEP152 | c.3074G>C (p.Arg1025Thr) c.2795G>C (p.Arg932Thr) c.1115G>C (p.Arg372Thr) c.1109G>C (p.Arg370Thr) n.4039G>C n.4025G>C | gnomAD v4 COSMIC COSMIC |
| 15 | g.48756174C>T | CA392342719 | CEP152 | c.3074G>A (p.Arg1025Lys) c.2795G>A (p.Arg932Lys) c.1115G>A (p.Arg372Lys) c.1109G>A (p.Arg370Lys) n.4039G>A n.4025G>A | |
| 15 | g.48756175T>A | CA392342720 | CEP152 | c.3073A>T (p.Arg1025Ter) c.2794A>T (p.Arg932Ter) c.1114A>T (p.Arg372Ter) c.1108A>T (p.Arg370Ter) n.4038A>T n.4024A>T | |
| 15 | g.48756175T>C | CA392342721 | CEP152 | c.3073A>G (p.Arg1025Gly) c.2794A>G (p.Arg932Gly) c.1114A>G (p.Arg372Gly) c.1108A>G (p.Arg370Gly) n.4038A>G n.4024A>G | |
| 15 | g.48756175T>G | CA490311235 | CEP152 | c.3073A>C (p.Arg1025=) c.2794A>C (p.Arg932=) c.1114A>C (p.Arg372=) c.1108A>C (p.Arg370=) n.4038A>C n.4024A>C | |
| 15 | g.48756176A>C | CA490311236 | CEP152 | c.3072T>G (p.Arg1024=) c.2793T>G (p.Arg931=) c.1113T>G (p.Arg371=) c.1107T>G (p.Arg369=) n.4037T>G n.4023T>G | |
| 15 | g.48756176A>G | CA490311238 | CEP152 | c.3072T>C (p.Arg1024=) c.2793T>C (p.Arg931=) c.1113T>C (p.Arg371=) c.1107T>C (p.Arg369=) n.4037T>C n.4023T>C | |
| 15 | g.48756176A>T | CA490311237 | CEP152 | c.3072T>A (p.Arg1024=) c.2793T>A (p.Arg931=) c.1113T>A (p.Arg371=) c.1107T>A (p.Arg369=) n.4037T>A n.4023T>A | |
| 15 | g.48756177C>A | CA207895 | CEP152 | c.3071G>T (p.Arg1024Leu) c.2792G>T (p.Arg931Leu) c.1112G>T (p.Arg371Leu) c.1106G>T (p.Arg369Leu) n.4036G>T n.4022G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756177C= | CA2175628627 | CEP152 | c.3071G= (p.Arg1024=) c.2792G= (p.Arg931=) c.1112G= (p.Arg371=) c.1106G= (p.Arg369=) n.4036G= n.4022G= | |
| 15 | g.48756177C>G | CA392342722 | CEP152 | c.3071G>C (p.Arg1024Pro) c.2792G>C (p.Arg931Pro) c.1112G>C (p.Arg371Pro) c.1106G>C (p.Arg369Pro) n.4036G>C n.4022G>C | |
| 15 | g.48756177C>T | CA7548420 | CEP152 | c.3071G>A (p.Arg1024His) c.2792G>A (p.Arg931His) c.1112G>A (p.Arg371His) c.1106G>A (p.Arg369His) n.4036G>A n.4022G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756178G>A | CA7548421 | CEP152 | c.3070C>T (p.Arg1024Cys) c.2791C>T (p.Arg931Cys) c.1111C>T (p.Arg371Cys) c.1105C>T (p.Arg369Cys) n.4035C>T n.4021C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.48756178G>C | CA392342723 | CEP152 | c.3070C>G (p.Arg1024Gly) c.2791C>G (p.Arg931Gly) c.1111C>G (p.Arg371Gly) c.1105C>G (p.Arg369Gly) n.4035C>G n.4021C>G | gnomAD v4 |
| 15 | g.48756178G= | CA2175628634 | CEP152 | c.3070C= (p.Arg1024=) c.2791C= (p.Arg931=) c.1111C= (p.Arg371=) c.1105C= (p.Arg369=) n.4035C= n.4021C= | |
| 15 | g.48756178G>T | CA392342724 | CEP152 | c.3070C>A (p.Arg1024Ser) c.2791C>A (p.Arg931Ser) c.1111C>A (p.Arg371Ser) c.1105C>A (p.Arg369Ser) n.4035C>A n.4021C>A | |
| 15 | g.48756179A>C | CA392342725 | CEP152 | c.3069T>G (p.Ser1023Arg) c.2790T>G (p.Ser930Arg) c.1110T>G (p.Ser370Arg) c.1104T>G (p.Ser368Arg) n.4034T>G n.4020T>G | |
| 15 | g.48756179A>G | CA490311239 | CEP152 | c.3069T>C (p.Ser1023=) c.2790T>C (p.Ser930=) c.1110T>C (p.Ser370=) c.1104T>C (p.Ser368=) n.4034T>C n.4020T>C | COSMIC COSMIC |
| 15 | g.48756179A>T | CA392342726 | CEP152 | c.3069T>A (p.Ser1023Arg) c.2790T>A (p.Ser930Arg) c.1110T>A (p.Ser370Arg) c.1104T>A (p.Ser368Arg) n.4034T>A n.4020T>A | |
| 15 | g.48756180C>A | CA269537731 | CEP152 | c.3068G>T (p.Ser1023Ile) c.2789G>T (p.Ser930Ile) c.1109G>T (p.Ser370Ile) c.1103G>T (p.Ser368Ile) n.4033G>T n.4019G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756180C= | CA2175628639 | CEP152 | c.3068G= (p.Ser1023=) c.2789G= (p.Ser930=) c.1109G= (p.Ser370=) c.1103G= (p.Ser368=) n.4033G= n.4019G= | |
| 15 | g.48756180C>G | CA392342727 | CEP152 | c.3068G>C (p.Ser1023Thr) c.2789G>C (p.Ser930Thr) c.1109G>C (p.Ser370Thr) c.1103G>C (p.Ser368Thr) n.4033G>C n.4019G>C | |
| 15 | g.48756180C>T | CA392342729 | CEP152 | c.3068G>A (p.Ser1023Asn) c.2789G>A (p.Ser930Asn) c.1109G>A (p.Ser370Asn) c.1103G>A (p.Ser368Asn) n.4033G>A n.4019G>A | |
| 15 | g.48756181T>A | CA392342731 | CEP152 | c.3067A>T (p.Ser1023Cys) c.2788A>T (p.Ser930Cys) c.1108A>T (p.Ser370Cys) c.1102A>T (p.Ser368Cys) n.4032A>T n.4018A>T | |
| 15 | g.48756181T>C | CA392342732 | CEP152 | c.3067A>G (p.Ser1023Gly) c.2788A>G (p.Ser930Gly) c.1108A>G (p.Ser370Gly) c.1102A>G (p.Ser368Gly) n.4032A>G n.4018A>G | |
| 15 | g.48756181T>G | CA392342734 | CEP152 | c.3067A>C (p.Ser1023Arg) c.2788A>C (p.Ser930Arg) c.1108A>C (p.Ser370Arg) c.1102A>C (p.Ser368Arg) n.4032A>C n.4018A>C | |
| 15 | g.48756182C>A | CA392342738 | CEP152 | c.3066G>T (p.Gln1022His) c.2787G>T (p.Gln929His) c.1107G>T (p.Gln369His) c.1101G>T (p.Gln367His) n.4031G>T n.4017G>T | gnomAD v4 |
| 15 | g.48756182C= | CA2175628643 | CEP152 | c.3066G= (p.Gln1022=) c.2787G= (p.Gln929=) c.1107G= (p.Gln369=) c.1101G= (p.Gln367=) n.4031G= n.4017G= | |
| 15 | g.48756182C>G | CA392342736 | CEP152 | c.3066G>C (p.Gln1022His) c.2787G>C (p.Gln929His) c.1107G>C (p.Gln369His) c.1101G>C (p.Gln367His) n.4031G>C n.4017G>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48756182C>T | CA490311240 | CEP152 | c.3066G>A (p.Gln1022=) c.2787G>A (p.Gln929=) c.1107G>A (p.Gln369=) c.1101G>A (p.Gln367=) n.4031G>A n.4017G>A | |
| 15 | g.48756183T>A | CA392342739 | CEP152 | c.3065A>T (p.Gln1022Leu) c.2786A>T (p.Gln929Leu) c.1106A>T (p.Gln369Leu) c.1100A>T (p.Gln367Leu) n.4030A>T n.4016A>T | gnomAD v4 COSMIC |
| 15 | g.48756183T>C | CA392342741 | CEP152 | c.3065A>G (p.Gln1022Arg) c.2786A>G (p.Gln929Arg) c.1106A>G (p.Gln369Arg) c.1100A>G (p.Gln367Arg) n.4030A>G n.4016A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756183T>G | CA392342743 | CEP152 | c.3065A>C (p.Gln1022Pro) c.2786A>C (p.Gln929Pro) c.1106A>C (p.Gln369Pro) c.1100A>C (p.Gln367Pro) n.4030A>C n.4016A>C | |
| 15 | g.48756183T= | CA2175628648 | CEP152 | c.3065A= (p.Gln1022=) c.2786A= (p.Gln929=) c.1106A= (p.Gln369=) c.1100A= (p.Gln367=) n.4030A= n.4016A= | |
| 15 | g.48756184G>A | CA7548422 | CEP152 | c.3064C>T (p.Gln1022Ter) c.2785C>T (p.Gln929Ter) c.1105C>T (p.Gln369Ter) c.1099C>T (p.Gln367Ter) n.4029C>T n.4015C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756184G>C | CA392342746 | CEP152 | c.3064C>G (p.Gln1022Glu) c.2785C>G (p.Gln929Glu) c.1105C>G (p.Gln369Glu) c.1099C>G (p.Gln367Glu) n.4029C>G n.4015C>G | |
| 15 | g.48756184G= | CA2175628650 | CEP152 | c.3064C= (p.Gln1022=) c.2785C= (p.Gln929=) c.1105C= (p.Gln369=) c.1099C= (p.Gln367=) n.4029C= n.4015C= | |
| 15 | g.48756184G>T | CA392342748 | CEP152 | c.3064C>A (p.Gln1022Lys) c.2785C>A (p.Gln929Lys) c.1105C>A (p.Gln369Lys) c.1099C>A (p.Gln367Lys) n.4029C>A n.4015C>A | dbSNP gnomAD v4 |
| 15 | g.48756185G>A | CA7548423 | CEP152 | c.3063C>T (p.Asp1021=) c.2784C>T (p.Asp928=) c.1104C>T (p.Asp368=) c.1098C>T (p.Asp366=) n.4028C>T n.4014C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756185G>C | CA392342752 | CEP152 | c.3063C>G (p.Asp1021Glu) c.2784C>G (p.Asp928Glu) c.1104C>G (p.Asp368Glu) c.1098C>G (p.Asp366Glu) n.4028C>G n.4014C>G | |
| 15 | g.48756185G= | CA2175628654 | CEP152 | c.3063C= (p.Asp1021=) c.2784C= (p.Asp928=) c.1104C= (p.Asp368=) c.1098C= (p.Asp366=) n.4028C= n.4014C= | |
| 15 | g.48756185G>T | CA392342751 | CEP152 | c.3063C>A (p.Asp1021Glu) c.2784C>A (p.Asp928Glu) c.1104C>A (p.Asp368Glu) c.1098C>A (p.Asp366Glu) n.4028C>A n.4014C>A | |
| 15 | g.48756186T>A | CA392342754 | CEP152 | c.3062A>T (p.Asp1021Val) c.2783A>T (p.Asp928Val) c.1103A>T (p.Asp368Val) c.1097A>T (p.Asp366Val) n.4027A>T n.4013A>T | |
| 15 | g.48756186T>C | CA392342755 | CEP152 | c.3062A>G (p.Asp1021Gly) c.2783A>G (p.Asp928Gly) c.1103A>G (p.Asp368Gly) c.1097A>G (p.Asp366Gly) n.4027A>G n.4013A>G | |
| 15 | g.48756186T>G | CA392342757 | CEP152 | c.3062A>C (p.Asp1021Ala) c.2783A>C (p.Asp928Ala) c.1103A>C (p.Asp368Ala) c.1097A>C (p.Asp366Ala) n.4027A>C n.4013A>C | |
| 15 | g.48756187C>A | CA392342759 | CEP152 | c.3061G>T (p.Asp1021Tyr) c.2782G>T (p.Asp928Tyr) c.1102G>T (p.Asp368Tyr) c.1096G>T (p.Asp366Tyr) n.4026G>T n.4012G>T | |
| 15 | g.48756187C>G | CA392342760 | CEP152 | c.3061G>C (p.Asp1021His) c.2782G>C (p.Asp928His) c.1102G>C (p.Asp368His) c.1096G>C (p.Asp366His) n.4026G>C n.4012G>C | |
| 15 | g.48756187C>T | CA392342761 | CEP152 | c.3061G>A (p.Asp1021Asn) c.2782G>A (p.Asp928Asn) c.1102G>A (p.Asp368Asn) c.1096G>A (p.Asp366Asn) n.4026G>A n.4012G>A | |
| 15 | g.48756188T>A | CA490311241 | CEP152 | c.3060A>T (p.Leu1020=) c.2781A>T (p.Leu927=) c.1101A>T (p.Leu367=) c.1095A>T (p.Leu365=) n.4025A>T n.4011A>T | |
| 15 | g.48756188T>C | CA7548424 | CEP152 | c.3060A>G (p.Leu1020=) c.2781A>G (p.Leu927=) c.1101A>G (p.Leu367=) c.1095A>G (p.Leu365=) n.4025A>G n.4011A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756188T>G | CA490311242 | CEP152 | c.3060A>C (p.Leu1020=) c.2781A>C (p.Leu927=) c.1101A>C (p.Leu367=) c.1095A>C (p.Leu365=) n.4025A>C n.4011A>C | |
| 15 | g.48756188T= | CA2175628658 | CEP152 | c.3060A= (p.Leu1020=) c.2781A= (p.Leu927=) c.1101A= (p.Leu367=) c.1095A= (p.Leu365=) n.4025A= n.4011A= | |
| 15 | g.48756189A>C | CA392342762 | CEP152 | c.3059T>G (p.Leu1020Arg) c.2780T>G (p.Leu927Arg) c.1100T>G (p.Leu367Arg) c.1094T>G (p.Leu365Arg) n.4024T>G n.4010T>G | |
| 15 | g.48756189A>G | CA392342763 | CEP152 | c.3059T>C (p.Leu1020Pro) c.2780T>C (p.Leu927Pro) c.1100T>C (p.Leu367Pro) c.1094T>C (p.Leu365Pro) n.4024T>C n.4010T>C | |
| 15 | g.48756189A>T | CA392342764 | CEP152 | c.3059T>A (p.Leu1020Gln) c.2780T>A (p.Leu927Gln) c.1100T>A (p.Leu367Gln) c.1094T>A (p.Leu365Gln) n.4024T>A n.4010T>A | |
| 15 | g.48756190G>A | CA7548426 | CEP152 | c.3058C>T (p.Leu1020=) c.2779C>T (p.Leu927=) c.1099C>T (p.Leu367=) c.1093C>T (p.Leu365=) n.4023C>T n.4009C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756190G>C | CA7548425 | CEP152 | c.3058C>G (p.Leu1020Val) c.2779C>G (p.Leu927Val) c.1099C>G (p.Leu367Val) c.1093C>G (p.Leu365Val) n.4023C>G n.4009C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756190G= | CA2175628661 | CEP152 | c.3058C= (p.Leu1020=) c.2779C= (p.Leu927=) c.1099C= (p.Leu367=) c.1093C= (p.Leu365=) n.4023C= n.4009C= | |
| 15 | g.48756190G>T | CA392342765 | CEP152 | c.3058C>A (p.Leu1020Ile) c.2779C>A (p.Leu927Ile) c.1099C>A (p.Leu367Ile) c.1093C>A (p.Leu365Ile) n.4023C>A n.4009C>A | |
| 15 | g.48756191A>C | CA392342766 | CEP152 | c.3057T>G (p.Cys1019Trp) c.2778T>G (p.Cys926Trp) c.1098T>G (p.Cys366Trp) c.1092T>G (p.Cys364Trp) n.4022T>G n.4008T>G | |
| 15 | g.48756191A>G | CA490311243 | CEP152 | c.3057T>C (p.Cys1019=) c.2778T>C (p.Cys926=) c.1098T>C (p.Cys366=) c.1092T>C (p.Cys364=) n.4022T>C n.4008T>C | ClinVar COSMIC COSMIC |
| 15 | g.48756191A>T | CA392342767 | CEP152 | c.3057T>A (p.Cys1019Ter) c.2778T>A (p.Cys926Ter) c.1098T>A (p.Cys366Ter) c.1092T>A (p.Cys364Ter) n.4022T>A n.4008T>A | |
| 15 | g.48756192C>A | CA7548427 | CEP152 | c.3056G>T (p.Cys1019Phe) c.2777G>T (p.Cys926Phe) c.1097G>T (p.Cys366Phe) c.1091G>T (p.Cys364Phe) n.4021G>T n.4007G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756192C= | CA2175628665 | CEP152 | c.3056G= (p.Cys1019=) c.2777G= (p.Cys926=) c.1097G= (p.Cys366=) c.1091G= (p.Cys364=) n.4021G= n.4007G= | |
| 15 | g.48756192C>G | CA392342769 | CEP152 | c.3056G>C (p.Cys1019Ser) c.2777G>C (p.Cys926Ser) c.1097G>C (p.Cys366Ser) c.1091G>C (p.Cys364Ser) n.4021G>C n.4007G>C | |
| 15 | g.48756192C>T | CA392342768 | CEP152 | c.3056G>A (p.Cys1019Tyr) c.2777G>A (p.Cys926Tyr) c.1097G>A (p.Cys366Tyr) c.1091G>A (p.Cys364Tyr) n.4021G>A n.4007G>A | gnomAD v4 |
| 15 | g.48756193A>C | CA392342770 | CEP152 | c.3055T>G (p.Cys1019Gly) c.2776T>G (p.Cys926Gly) c.1096T>G (p.Cys366Gly) c.1090T>G (p.Cys364Gly) n.4020T>G n.4006T>G | |
| 15 | g.48756193A>G | CA392342771 | CEP152 | c.3055T>C (p.Cys1019Arg) c.2776T>C (p.Cys926Arg) c.1096T>C (p.Cys366Arg) c.1090T>C (p.Cys364Arg) n.4020T>C n.4006T>C | gnomAD v4 |
| 15 | g.48756193A>T | CA392342772 | CEP152 | c.3055T>A (p.Cys1019Ser) c.2776T>A (p.Cys926Ser) c.1096T>A (p.Cys366Ser) c.1090T>A (p.Cys364Ser) n.4020T>A n.4006T>A | |
| 15 | g.48756194A= | CA2175628667 | CEP152 | c.3054T= (p.Thr1018=) c.2775T= (p.Thr925=) c.1095T= (p.Thr365=) c.1089T= (p.Thr363=) n.4019T= n.4005T= | |
| 15 | g.48756194A>C | CA490311244 | CEP152 | c.3054T>G (p.Thr1018=) c.2775T>G (p.Thr925=) c.1095T>G (p.Thr365=) c.1089T>G (p.Thr363=) n.4019T>G n.4005T>G | |
| 15 | g.48756194A>G | CA7548428 | CEP152 | c.3054T>C (p.Thr1018=) c.2775T>C (p.Thr925=) c.1095T>C (p.Thr365=) c.1089T>C (p.Thr363=) n.4019T>C n.4005T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756194A>T | CA490311245 | CEP152 | c.3054T>A (p.Thr1018=) c.2775T>A (p.Thr925=) c.1095T>A (p.Thr365=) c.1089T>A (p.Thr363=) n.4019T>A n.4005T>A | ClinVar |
| 15 | g.48756195G>A | CA392342774 | CEP152 | c.3053C>T (p.Thr1018Ile) c.2774C>T (p.Thr925Ile) c.1094C>T (p.Thr365Ile) c.1088C>T (p.Thr363Ile) n.4018C>T n.4004C>T | |
| 15 | g.48756195G>C | CA392342776 | CEP152 | c.3053C>G (p.Thr1018Ser) c.2774C>G (p.Thr925Ser) c.1094C>G (p.Thr365Ser) c.1088C>G (p.Thr363Ser) n.4018C>G n.4004C>G | |
| 15 | g.48756195G>T | CA392342778 | CEP152 | c.3053C>A (p.Thr1018Asn) c.2774C>A (p.Thr925Asn) c.1094C>A (p.Thr365Asn) c.1088C>A (p.Thr363Asn) n.4018C>A n.4004C>A | COSMIC COSMIC |
| 15 | g.48756196T>A | CA392342780 | CEP152 | c.3052A>T (p.Thr1018Ser) c.2773A>T (p.Thr925Ser) c.1093A>T (p.Thr365Ser) c.1087A>T (p.Thr363Ser) n.4017A>T n.4003A>T | |
| 15 | g.48756196T>C | CA392342781 | CEP152 | c.3052A>G (p.Thr1018Ala) c.2773A>G (p.Thr925Ala) c.1093A>G (p.Thr365Ala) c.1087A>G (p.Thr363Ala) n.4017A>G n.4003A>G | |
| 15 | g.48756196T>G | CA392342782 | CEP152 | c.3052A>C (p.Thr1018Pro) c.2773A>C (p.Thr925Pro) c.1093A>C (p.Thr365Pro) c.1087A>C (p.Thr363Pro) n.4017A>C n.4003A>C | |
| 15 | g.48756197T>A | CA392342785 | CEP152 | c.3051A>T (p.Gln1017His) c.2772A>T (p.Gln924His) c.1092A>T (p.Gln364His) c.1086A>T (p.Gln362His) n.4016A>T n.4002A>T | |
| 15 | g.48756197T>C | CA490311246 | CEP152 | c.3051A>G (p.Gln1017=) c.2772A>G (p.Gln924=) c.1092A>G (p.Gln364=) c.1086A>G (p.Gln362=) n.4016A>G n.4002A>G | gnomAD v4 |
| 15 | g.48756197T>G | CA392342786 | CEP152 | c.3051A>C (p.Gln1017His) c.2772A>C (p.Gln924His) c.1092A>C (p.Gln364His) c.1086A>C (p.Gln362His) n.4016A>C n.4002A>C | |
| 15 | g.48756198T>A | CA392342792 | CEP152 | c.3050A>T (p.Gln1017Leu) c.2771A>T (p.Gln924Leu) c.1091A>T (p.Gln364Leu) c.1085A>T (p.Gln362Leu) n.4015A>T n.4001A>T | |
| 15 | g.48756198T>C | CA392342788 | CEP152 | c.3050A>G (p.Gln1017Arg) c.2771A>G (p.Gln924Arg) c.1091A>G (p.Gln364Arg) c.1085A>G (p.Gln362Arg) n.4015A>G n.4001A>G | |
| 15 | g.48756198T>G | CA392342790 | CEP152 | c.3050A>C (p.Gln1017Pro) c.2771A>C (p.Gln924Pro) c.1091A>C (p.Gln364Pro) c.1085A>C (p.Gln362Pro) n.4015A>C n.4001A>C | |
| 15 | g.48756199G>A | CA392342793 | CEP152 | c.3049C>T (p.Gln1017Ter) c.2770C>T (p.Gln924Ter) c.1090C>T (p.Gln364Ter) c.1084C>T (p.Gln362Ter) n.4014C>T n.4000C>T | gnomAD v4 |
| 15 | g.48756199G>C | CA7548429 | CEP152 | c.3049C>G (p.Gln1017Glu) c.2770C>G (p.Gln924Glu) c.1090C>G (p.Gln364Glu) c.1084C>G (p.Gln362Glu) n.4014C>G n.4000C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756199G= | CA2175628672 | CEP152 | c.3049C= (p.Gln1017=) c.2770C= (p.Gln924=) c.1090C= (p.Gln364=) c.1084C= (p.Gln362=) n.4014C= n.4000C= | |
| 15 | g.48756199G>T | CA392342796 | CEP152 | c.3049C>A (p.Gln1017Lys) c.2770C>A (p.Gln924Lys) c.1090C>A (p.Gln364Lys) c.1084C>A (p.Gln362Lys) n.4014C>A n.4000C>A | |
| 15 | g.48756200T>A | CA392342798 | CEP152 | c.3048A>T (p.Leu1016Phe) c.2769A>T (p.Leu923Phe) c.1089A>T (p.Leu363Phe) c.1083A>T (p.Leu361Phe) n.4013A>T n.3999A>T | |
| 15 | g.48756200T>C | CA269537774 | CEP152 | c.3048A>G (p.Leu1016=) c.2769A>G (p.Leu923=) c.1089A>G (p.Leu363=) c.1083A>G (p.Leu361=) n.4013A>G n.3999A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756200T>G | CA392342800 | CEP152 | c.3048A>C (p.Leu1016Phe) c.2769A>C (p.Leu923Phe) c.1089A>C (p.Leu363Phe) c.1083A>C (p.Leu361Phe) n.4013A>C n.3999A>C | |
| 15 | g.48756200T= | CA2175628675 | CEP152 | c.3048A= (p.Leu1016=) c.2769A= (p.Leu923=) c.1089A= (p.Leu363=) c.1083A= (p.Leu361=) n.4013A= n.3999A= | |
| 15 | g.48756201A>C | CA392342802 | CEP152 | c.3047T>G (p.Leu1016Ter) c.2768T>G (p.Leu923Ter) c.1088T>G (p.Leu363Ter) c.1082T>G (p.Leu361Ter) n.4012T>G n.3998T>G | |
| 15 | g.48756201A>G | CA392342803 | CEP152 | c.3047T>C (p.Leu1016Ser) c.2768T>C (p.Leu923Ser) c.1088T>C (p.Leu363Ser) c.1082T>C (p.Leu361Ser) n.4012T>C n.3998T>C | |
| 15 | g.48756201A>T | CA392342804 | CEP152 | c.3047T>A (p.Leu1016Ter) c.2768T>A (p.Leu923Ter) c.1088T>A (p.Leu363Ter) c.1082T>A (p.Leu361Ter) n.4012T>A n.3998T>A | |
| 15 | g.48756202A= | CA2175628679 | CEP152 | c.3046T= (p.Leu1016=) c.2767T= (p.Leu923=) c.1087T= (p.Leu363=) c.1081T= (p.Leu361=) n.4011T= n.3997T= | |
| 15 | g.48756202A>C | CA392342806 | CEP152 | c.3046T>G (p.Leu1016Val) c.2767T>G (p.Leu923Val) c.1087T>G (p.Leu363Val) c.1081T>G (p.Leu361Val) n.4011T>G n.3997T>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756202A>G | CA490311247 | CEP152 | c.3046T>C (p.Leu1016=) c.2767T>C (p.Leu923=) c.1087T>C (p.Leu363=) c.1081T>C (p.Leu361=) n.4011T>C n.3997T>C | |
| 15 | g.48756202A>T | CA392342807 | CEP152 | c.3046T>A (p.Leu1016Ile) c.2767T>A (p.Leu923Ile) c.1087T>A (p.Leu363Ile) c.1081T>A (p.Leu361Ile) n.4011T>A n.3997T>A | |
| 15 | g.48756203T>A | CA392342808 | CEP152 | c.3045A>T (p.Glu1015Asp) c.2766A>T (p.Glu922Asp) c.1086A>T (p.Glu362Asp) c.1080A>T (p.Glu360Asp) n.4010A>T n.3996A>T | |
| 15 | g.48756203T>C | CA490311248 | CEP152 | c.3045A>G (p.Glu1015=) c.2766A>G (p.Glu922=) c.1086A>G (p.Glu362=) c.1080A>G (p.Glu360=) n.4010A>G n.3996A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756203T>G | CA392342809 | CEP152 | c.3045A>C (p.Glu1015Asp) c.2766A>C (p.Glu922Asp) c.1086A>C (p.Glu362Asp) c.1080A>C (p.Glu360Asp) n.4010A>C n.3996A>C | |
| 15 | g.48756203T= | CA2175628682 | CEP152 | c.3045A= (p.Glu1015=) c.2766A= (p.Glu922=) c.1086A= (p.Glu362=) c.1080A= (p.Glu360=) n.4010A= n.3996A= | |
| 15 | g.48756204T>A | CA392342812 | CEP152 | c.3044A>T (p.Glu1015Val) c.2765A>T (p.Glu922Val) c.1085A>T (p.Glu362Val) c.1079A>T (p.Glu360Val) n.4009A>T n.3995A>T | |
| 15 | g.48756204T>C | CA392342814 | CEP152 | c.3044A>G (p.Glu1015Gly) c.2765A>G (p.Glu922Gly) c.1085A>G (p.Glu362Gly) c.1079A>G (p.Glu360Gly) n.4009A>G n.3995A>G | |
| 15 | g.48756204T>G | CA392342815 | CEP152 | c.3044A>C (p.Glu1015Ala) c.2765A>C (p.Glu922Ala) c.1085A>C (p.Glu362Ala) c.1079A>C (p.Glu360Ala) n.4009A>C n.3995A>C | |
| 15 | g.48756205C>A | CA392342816 | CEP152 | c.3043G>T (p.Glu1015Ter) c.2764G>T (p.Glu922Ter) c.1084G>T (p.Glu362Ter) c.1078G>T (p.Glu360Ter) n.4008G>T n.3994G>T | |
| 15 | g.48756205C>G | CA392342818 | CEP152 | c.3043G>C (p.Glu1015Gln) c.2764G>C (p.Glu922Gln) c.1084G>C (p.Glu362Gln) c.1078G>C (p.Glu360Gln) n.4008G>C n.3994G>C | |
| 15 | g.48756205C>T | CA392342819 | CEP152 | c.3043G>A (p.Glu1015Lys) c.2764G>A (p.Glu922Lys) c.1084G>A (p.Glu362Lys) c.1078G>A (p.Glu360Lys) n.4008G>A n.3994G>A | |
| 15 | g.48756206T>A | CA490311249 | CEP152 | c.3042A>T (p.Thr1014=) c.2763A>T (p.Thr921=) c.1083A>T (p.Thr361=) c.1077A>T (p.Thr359=) n.4007A>T n.3993A>T | |
| 15 | g.48756206T>C | CA490311251 | CEP152 | c.3042A>G (p.Thr1014=) c.2763A>G (p.Thr921=) c.1083A>G (p.Thr361=) c.1077A>G (p.Thr359=) n.4007A>G n.3993A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756206T>G | CA490311250 | CEP152 | c.3042A>C (p.Thr1014=) c.2763A>C (p.Thr921=) c.1083A>C (p.Thr361=) c.1077A>C (p.Thr359=) n.4007A>C n.3993A>C | |
| 15 | g.48756206T= | CA2175628683 | CEP152 | c.3042A= (p.Thr1014=) c.2763A= (p.Thr921=) c.1083A= (p.Thr361=) c.1077A= (p.Thr359=) n.4007A= n.3993A= | |
| 15 | g.48756207G>A | CA392342824 | CEP152 | c.3041C>T (p.Thr1014Ile) c.2762C>T (p.Thr921Ile) c.1082C>T (p.Thr361Ile) c.1076C>T (p.Thr359Ile) n.4006C>T n.3992C>T | |
| 15 | g.48756207G>C | CA392342821 | CEP152 | c.3041C>G (p.Thr1014Arg) c.2762C>G (p.Thr921Arg) c.1082C>G (p.Thr361Arg) c.1076C>G (p.Thr359Arg) n.4006C>G n.3992C>G | |
| 15 | g.48756207G>T | CA392342822 | CEP152 | c.3041C>A (p.Thr1014Lys) c.2762C>A (p.Thr921Lys) c.1082C>A (p.Thr361Lys) c.1076C>A (p.Thr359Lys) n.4006C>A n.3992C>A | |
| 15 | g.48756208T>A | CA392342826 | CEP152 | c.3040A>T (p.Thr1014Ser) c.2761A>T (p.Thr921Ser) c.1081A>T (p.Thr361Ser) c.1075A>T (p.Thr359Ser) n.4005A>T n.3991A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756208T>C | CA392342828 | CEP152 | c.3040A>G (p.Thr1014Ala) c.2761A>G (p.Thr921Ala) c.1081A>G (p.Thr361Ala) c.1075A>G (p.Thr359Ala) n.4005A>G n.3991A>G | |
| 15 | g.48756208T>G | CA392342829 | CEP152 | c.3040A>C (p.Thr1014Pro) c.2761A>C (p.Thr921Pro) c.1081A>C (p.Thr361Pro) c.1075A>C (p.Thr359Pro) n.4005A>C n.3991A>C | |
| 15 | g.48756208T= | CA2175628686 | CEP152 | c.3040A= (p.Thr1014=) c.2761A= (p.Thr921=) c.1081A= (p.Thr361=) c.1075A= (p.Thr359=) n.4005A= n.3991A= | |
| 15 | g.48756209C>A | CA392342831 | CEP152 | c.3039G>T (p.Glu1013Asp) c.2760G>T (p.Glu920Asp) c.1080G>T (p.Glu360Asp) c.1074G>T (p.Glu358Asp) n.4004G>T n.3990G>T | |
| 15 | g.48756209C>G | CA392342833 | CEP152 | c.3039G>C (p.Glu1013Asp) c.2760G>C (p.Glu920Asp) c.1080G>C (p.Glu360Asp) c.1074G>C (p.Glu358Asp) n.4004G>C n.3990G>C | |
| 15 | g.48756209C>T | CA490311252 | CEP152 | c.3039G>A (p.Glu1013=) c.2760G>A (p.Glu920=) c.1080G>A (p.Glu360=) c.1074G>A (p.Glu358=) n.4004G>A n.3990G>A | |
| 15 | g.48756210T>A | CA392342834 | CEP152 | c.3038A>T (p.Glu1013Val) c.2759A>T (p.Glu920Val) c.1079A>T (p.Glu360Val) c.1073A>T (p.Glu358Val) n.4003A>T n.3989A>T | |
| 15 | g.48756210T>C | CA392342837 | CEP152 | c.3038A>G (p.Glu1013Gly) c.2759A>G (p.Glu920Gly) c.1079A>G (p.Glu360Gly) c.1073A>G (p.Glu358Gly) n.4003A>G n.3989A>G | |
| 15 | g.48756210T>G | CA392342836 | CEP152 | c.3038A>C (p.Glu1013Ala) c.2759A>C (p.Glu920Ala) c.1079A>C (p.Glu360Ala) c.1073A>C (p.Glu358Ala) n.4003A>C n.3989A>C | |
| 15 | g.48756210_48756211delinsTC | CA2175628689 | CEP152 | c.3037_3038delinsGA (p.Glu1013=) c.2758_2759delinsGA (p.Glu920=) c.1078_1079delinsGA (p.Glu360=) c.1072_1073delinsGA (p.Glu358=) n.4002_4003delinsGA n.3988_3989delinsGA | |
| 15 | g.48756211C>A | CA392342838 | CEP152 | c.3037G>T (p.Glu1013Ter) c.2758G>T (p.Glu920Ter) c.1078G>T (p.Glu360Ter) c.1072G>T (p.Glu358Ter) n.4002G>T n.3988G>T | dbSNP gnomAD v4 |
| 15 | g.48756211C= | CA2175628691 | CEP152 | c.3037G= (p.Glu1013=) c.2758G= (p.Glu920=) c.1078G= (p.Glu360=) c.1072G= (p.Glu358=) n.4002G= n.3988G= | |
| 15 | g.48756211C>G | CA392342839 | CEP152 | c.3037G>C (p.Glu1013Gln) c.2758G>C (p.Glu920Gln) c.1078G>C (p.Glu360Gln) c.1072G>C (p.Glu358Gln) n.4002G>C n.3988G>C | |
| 15 | g.48756211C>T | CA392342841 | CEP152 | c.3037G>A (p.Glu1013Lys) c.2758G>A (p.Glu920Lys) c.1078G>A (p.Glu360Lys) c.1072G>A (p.Glu358Lys) n.4002G>A n.3988G>A | |
| 15 | g.48756212del | CA969564684 | CEP152 | c.3037del (p.Glu1013ArgfsTer8) c.2758del (p.Glu920ArgfsTer8) c.1078del (p.Glu360ArgfsTer8) c.1072del (p.Glu358ArgfsTer8) n.4002del n.3988del | dbSNP gnomAD v3 gnomAD v4 |