| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48756044C>A | CA392341915 | CEP152 | c.3204G>T (p.Lys1068Asn) c.2925G>T (p.Lys975Asn) c.1245G>T (p.Lys415Asn) c.1239G>T (p.Lys413Asn) n.4169G>T n.4155G>T | dbSNP |
| 15 | g.48756044C= | CA2175628480 | CEP152 | c.3204G= (p.Lys1068=) c.2925G= (p.Lys975=) c.1245G= (p.Lys415=) c.1239G= (p.Lys413=) n.4169G= n.4155G= | |
| 15 | g.48756044C>G | CA392341916 | CEP152 | c.3204G>C (p.Lys1068Asn) c.2925G>C (p.Lys975Asn) c.1245G>C (p.Lys415Asn) c.1239G>C (p.Lys413Asn) n.4169G>C n.4155G>C | |
| 15 | g.48756044C>T | CA269537603 | CEP152 | c.3204G>A (p.Lys1068=) c.2925G>A (p.Lys975=) c.1245G>A (p.Lys415=) c.1239G>A (p.Lys413=) n.4169G>A n.4155G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48756045T>A | CA392341918 | CEP152 | c.3203A>T (p.Lys1068Met) c.2924A>T (p.Lys975Met) c.1244A>T (p.Lys415Met) c.1238A>T (p.Lys413Met) n.4168A>T n.4154A>T | |
| 15 | g.48756045T>C | CA392341919 | CEP152 | c.3203A>G (p.Lys1068Arg) c.2924A>G (p.Lys975Arg) c.1244A>G (p.Lys415Arg) c.1238A>G (p.Lys413Arg) n.4168A>G n.4154A>G | |
| 15 | g.48756045T>G | CA392341917 | CEP152 | c.3203A>C (p.Lys1068Thr) c.2924A>C (p.Lys975Thr) c.1244A>C (p.Lys415Thr) c.1238A>C (p.Lys413Thr) n.4168A>C n.4154A>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756045T= | CA2175628485 | CEP152 | c.3203A= (p.Lys1068=) c.2924A= (p.Lys975=) c.1244A= (p.Lys415=) c.1238A= (p.Lys413=) n.4168A= n.4154A= | |
| 15 | g.48756046del | CA2628343340 | CEP152 | c.3203del (p.Lys1068SerfsTer23) c.2924del (p.Lys975SerfsTer23) c.1244del (p.Lys415SerfsTer23) c.1238del (p.Lys413SerfsTer23) n.4168del n.4154del | gnomAD v4 |
| 15 | g.48756046T>A | CA392341920 | CEP152 | c.3202A>T (p.Lys1068Ter) c.2923A>T (p.Lys975Ter) c.1243A>T (p.Lys415Ter) c.1237A>T (p.Lys413Ter) n.4167A>T n.4153A>T | |
| 15 | g.48756046T>C | CA392341921 | CEP152 | c.3202A>G (p.Lys1068Glu) c.2923A>G (p.Lys975Glu) c.1243A>G (p.Lys415Glu) c.1237A>G (p.Lys413Glu) n.4167A>G n.4153A>G | |
| 15 | g.48756046T>G | CA392341922 | CEP152 | c.3202A>C (p.Lys1068Gln) c.2923A>C (p.Lys975Gln) c.1243A>C (p.Lys415Gln) c.1237A>C (p.Lys413Gln) n.4167A>C n.4153A>C | gnomAD v4 |
| 15 | g.48756047G>A | CA490311163 | CEP152 | c.3201C>T (p.Asp1067=) c.2922C>T (p.Asp974=) c.1242C>T (p.Asp414=) c.1236C>T (p.Asp412=) n.4166C>T n.4152C>T | |
| 15 | g.48756047G>C | CA392341925 | CEP152 | c.3201C>G (p.Asp1067Glu) c.2922C>G (p.Asp974Glu) c.1242C>G (p.Asp414Glu) c.1236C>G (p.Asp412Glu) n.4166C>G n.4152C>G | dbSNP |
| 15 | g.48756047G= | CA2175628487 | CEP152 | c.3201C= (p.Asp1067=) c.2922C= (p.Asp974=) c.1242C= (p.Asp414=) c.1236C= (p.Asp412=) n.4166C= n.4152C= | |
| 15 | g.48756047G>T | CA392341928 | CEP152 | c.3201C>A (p.Asp1067Glu) c.2922C>A (p.Asp974Glu) c.1242C>A (p.Asp414Glu) c.1236C>A (p.Asp412Glu) n.4166C>A n.4152C>A | dbSNP gnomAD v4 |
| 15 | g.48756048T>A | CA392341934 | CEP152 | c.3200A>T (p.Asp1067Val) c.2921A>T (p.Asp974Val) c.1241A>T (p.Asp414Val) c.1235A>T (p.Asp412Val) n.4165A>T n.4151A>T | |
| 15 | g.48756048T>C | CA392341931 | CEP152 | c.3200A>G (p.Asp1067Gly) c.2921A>G (p.Asp974Gly) c.1241A>G (p.Asp414Gly) c.1235A>G (p.Asp412Gly) n.4165A>G n.4151A>G | |
| 15 | g.48756048T>G | CA392341932 | CEP152 | c.3200A>C (p.Asp1067Ala) c.2921A>C (p.Asp974Ala) c.1241A>C (p.Asp414Ala) c.1235A>C (p.Asp412Ala) n.4165A>C n.4151A>C | |
| 15 | g.48756049C>A | CA392341939 | CEP152 | c.3199G>T (p.Asp1067Tyr) c.2920G>T (p.Asp974Tyr) c.1240G>T (p.Asp414Tyr) c.1234G>T (p.Asp412Tyr) n.4164G>T n.4150G>T | |
| 15 | g.48756049C>G | CA392341941 | CEP152 | c.3199G>C (p.Asp1067His) c.2920G>C (p.Asp974His) c.1240G>C (p.Asp414His) c.1234G>C (p.Asp412His) n.4164G>C n.4150G>C | |
| 15 | g.48756049C>T | CA392341943 | CEP152 | c.3199G>A (p.Asp1067Asn) c.2920G>A (p.Asp974Asn) c.1240G>A (p.Asp414Asn) c.1234G>A (p.Asp412Asn) n.4164G>A n.4150G>A | |
| 15 | g.48756050C>A | CA392341947 | CEP152 | c.3198G>T (p.Glu1066Asp) c.2919G>T (p.Glu973Asp) c.1239G>T (p.Glu413Asp) c.1233G>T (p.Glu411Asp) n.4163G>T n.4149G>T | |
| 15 | g.48756050C>G | CA392341949 | CEP152 | c.3198G>C (p.Glu1066Asp) c.2919G>C (p.Glu973Asp) c.1239G>C (p.Glu413Asp) c.1233G>C (p.Glu411Asp) n.4163G>C n.4149G>C | |
| 15 | g.48756050C>T | CA490311164 | CEP152 | c.3198G>A (p.Glu1066=) c.2919G>A (p.Glu973=) c.1239G>A (p.Glu413=) c.1233G>A (p.Glu411=) n.4163G>A n.4149G>A | |
| 15 | g.48756051T>A | CA392341952 | CEP152 | c.3197A>T (p.Glu1066Val) c.2918A>T (p.Glu973Val) c.1238A>T (p.Glu413Val) c.1232A>T (p.Glu411Val) n.4162A>T n.4148A>T | |
| 15 | g.48756051T>C | CA392341958 | CEP152 | c.3197A>G (p.Glu1066Gly) c.2918A>G (p.Glu973Gly) c.1238A>G (p.Glu413Gly) c.1232A>G (p.Glu411Gly) n.4162A>G n.4148A>G | |
| 15 | g.48756051T>G | CA392341956 | CEP152 | c.3197A>C (p.Glu1066Ala) c.2918A>C (p.Glu973Ala) c.1238A>C (p.Glu413Ala) c.1232A>C (p.Glu411Ala) n.4162A>C n.4148A>C | |
| 15 | g.48756052C>A | CA392341961 | CEP152 | c.3196G>T (p.Glu1066Ter) c.2917G>T (p.Glu973Ter) c.1237G>T (p.Glu413Ter) c.1231G>T (p.Glu411Ter) n.4161G>T n.4147G>T | |
| 15 | g.48756052C>G | CA392341962 | CEP152 | c.3196G>C (p.Glu1066Gln) c.2917G>C (p.Glu973Gln) c.1237G>C (p.Glu413Gln) c.1231G>C (p.Glu411Gln) n.4161G>C n.4147G>C | |
| 15 | g.48756052C>T | CA392341965 | CEP152 | c.3196G>A (p.Glu1066Lys) c.2917G>A (p.Glu973Lys) c.1237G>A (p.Glu413Lys) c.1231G>A (p.Glu411Lys) n.4161G>A n.4147G>A | |
| 15 | g.48756053A= | CA2175628490 | CEP152 | c.3195T= (p.Ser1065=) c.2916T= (p.Ser972=) c.1236T= (p.Ser412=) c.1230T= (p.Ser410=) n.4160T= n.4146T= | |
| 15 | g.48756053A>C | CA490311165 | CEP152 | c.3195T>G (p.Ser1065=) c.2916T>G (p.Ser972=) c.1236T>G (p.Ser412=) c.1230T>G (p.Ser410=) n.4160T>G n.4146T>G | gnomAD v4 |
| 15 | g.48756053A>G | CA490311166 | CEP152 | c.3195T>C (p.Ser1065=) c.2916T>C (p.Ser972=) c.1236T>C (p.Ser412=) c.1230T>C (p.Ser410=) n.4160T>C n.4146T>C | gnomAD v4 |
| 15 | g.48756053A>T | CA490311167 | CEP152 | c.3195T>A (p.Ser1065=) c.2916T>A (p.Ser972=) c.1236T>A (p.Ser412=) c.1230T>A (p.Ser410=) n.4160T>A n.4146T>A | dbSNP gnomAD v4 |
| 15 | g.48756054G>A | CA392341967 | CEP152 | c.3194C>T (p.Ser1065Phe) c.2915C>T (p.Ser972Phe) c.1235C>T (p.Ser412Phe) c.1229C>T (p.Ser410Phe) n.4159C>T n.4145C>T | |
| 15 | g.48756054G>C | CA7548407 | CEP152 | c.3194C>G (p.Ser1065Cys) c.2915C>G (p.Ser972Cys) c.1235C>G (p.Ser412Cys) c.1229C>G (p.Ser410Cys) n.4159C>G n.4145C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756054G= | CA2175628492 | CEP152 | c.3194C= (p.Ser1065=) c.2915C= (p.Ser972=) c.1235C= (p.Ser412=) c.1229C= (p.Ser410=) n.4159C= n.4145C= | |
| 15 | g.48756054G>T | CA392341972 | CEP152 | c.3194C>A (p.Ser1065Tyr) c.2915C>A (p.Ser972Tyr) c.1235C>A (p.Ser412Tyr) c.1229C>A (p.Ser410Tyr) n.4159C>A n.4145C>A | |
| 15 | g.48756055A>C | CA392341973 | CEP152 | c.3193T>G (p.Ser1065Ala) c.2914T>G (p.Ser972Ala) c.1234T>G (p.Ser412Ala) c.1228T>G (p.Ser410Ala) n.4158T>G n.4144T>G | |
| 15 | g.48756055A>G | CA392341974 | CEP152 | c.3193T>C (p.Ser1065Pro) c.2914T>C (p.Ser972Pro) c.1234T>C (p.Ser412Pro) c.1228T>C (p.Ser410Pro) n.4158T>C n.4144T>C | |
| 15 | g.48756055A>T | CA392341976 | CEP152 | c.3193T>A (p.Ser1065Thr) c.2914T>A (p.Ser972Thr) c.1234T>A (p.Ser412Thr) c.1228T>A (p.Ser410Thr) n.4158T>A n.4144T>A | |
| 15 | g.48756056A>C | CA392341979 | CEP152 | c.3192T>G (p.Asp1064Glu) c.2913T>G (p.Asp971Glu) c.1233T>G (p.Asp411Glu) c.1227T>G (p.Asp409Glu) n.4157T>G n.4143T>G | |
| 15 | g.48756056A>G | CA490311168 | CEP152 | c.3192T>C (p.Asp1064=) c.2913T>C (p.Asp971=) c.1233T>C (p.Asp411=) c.1227T>C (p.Asp409=) n.4157T>C n.4143T>C | |
| 15 | g.48756056A>T | CA392341982 | CEP152 | c.3192T>A (p.Asp1064Glu) c.2913T>A (p.Asp971Glu) c.1233T>A (p.Asp411Glu) c.1227T>A (p.Asp409Glu) n.4157T>A n.4143T>A | |
| 15 | g.48756057T>A | CA392341988 | CEP152 | c.3191A>T (p.Asp1064Val) c.2912A>T (p.Asp971Val) c.1232A>T (p.Asp411Val) c.1226A>T (p.Asp409Val) n.4156A>T n.4142A>T | |
| 15 | g.48756057T>C | CA392341986 | CEP152 | c.3191A>G (p.Asp1064Gly) c.2912A>G (p.Asp971Gly) c.1232A>G (p.Asp411Gly) c.1226A>G (p.Asp409Gly) n.4156A>G n.4142A>G | |
| 15 | g.48756057T>G | CA392341984 | CEP152 | c.3191A>C (p.Asp1064Ala) c.2912A>C (p.Asp971Ala) c.1232A>C (p.Asp411Ala) c.1226A>C (p.Asp409Ala) n.4156A>C n.4142A>C | |
| 15 | g.48756058C>A | CA392341990 | CEP152 | c.3190G>T (p.Asp1064Tyr) c.2911G>T (p.Asp971Tyr) c.1231G>T (p.Asp411Tyr) c.1225G>T (p.Asp409Tyr) n.4155G>T n.4141G>T | |
| 15 | g.48756058C= | CA2175628494 | CEP152 | c.3190G= (p.Asp1064=) c.2911G= (p.Asp971=) c.1231G= (p.Asp411=) c.1225G= (p.Asp409=) n.4155G= n.4141G= | |
| 15 | g.48756058C>G | CA392341993 | CEP152 | c.3190G>C (p.Asp1064His) c.2911G>C (p.Asp971His) c.1231G>C (p.Asp411His) c.1225G>C (p.Asp409His) n.4155G>C n.4141G>C | |
| 15 | g.48756058C>T | CA269537612 | CEP152 | c.3190G>A (p.Asp1064Asn) c.2911G>A (p.Asp971Asn) c.1231G>A (p.Asp411Asn) c.1225G>A (p.Asp409Asn) n.4155G>A n.4141G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48756059A>C | CA392341997 | CEP152 | c.3189T>G (p.Ser1063Arg) c.2910T>G (p.Ser970Arg) c.1230T>G (p.Ser410Arg) c.1224T>G (p.Ser408Arg) n.4154T>G n.4140T>G | gnomAD v4 |
| 15 | g.48756059A>G | CA490311169 | CEP152 | c.3189T>C (p.Ser1063=) c.2910T>C (p.Ser970=) c.1230T>C (p.Ser410=) c.1224T>C (p.Ser408=) n.4154T>C n.4140T>C | |
| 15 | g.48756059A>T | CA392341999 | CEP152 | c.3189T>A (p.Ser1063Arg) c.2910T>A (p.Ser970Arg) c.1230T>A (p.Ser410Arg) c.1224T>A (p.Ser408Arg) n.4154T>A n.4140T>A | |
| 15 | g.48756060C>A | CA392342002 | CEP152 | c.3188G>T (p.Ser1063Ile) c.2909G>T (p.Ser970Ile) c.1229G>T (p.Ser410Ile) c.1223G>T (p.Ser408Ile) n.4153G>T n.4139G>T | |
| 15 | g.48756060C>G | CA392342004 | CEP152 | c.3188G>C (p.Ser1063Thr) c.2909G>C (p.Ser970Thr) c.1229G>C (p.Ser410Thr) c.1223G>C (p.Ser408Thr) n.4153G>C n.4139G>C | |
| 15 | g.48756060C>T | CA392342007 | CEP152 | c.3188G>A (p.Ser1063Asn) c.2909G>A (p.Ser970Asn) c.1229G>A (p.Ser410Asn) c.1223G>A (p.Ser408Asn) n.4153G>A n.4139G>A | |
| 15 | g.48756061T>A | CA392342011 | CEP152 | c.3187A>T (p.Ser1063Cys) c.2908A>T (p.Ser970Cys) c.1228A>T (p.Ser410Cys) c.1222A>T (p.Ser408Cys) n.4152A>T n.4138A>T | |
| 15 | g.48756061T>C | CA7548408 | CEP152 | c.3187A>G (p.Ser1063Gly) c.2908A>G (p.Ser970Gly) c.1228A>G (p.Ser410Gly) c.1222A>G (p.Ser408Gly) n.4152A>G n.4138A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756061T>G | CA392342014 | CEP152 | c.3187A>C (p.Ser1063Arg) c.2908A>C (p.Ser970Arg) c.1228A>C (p.Ser410Arg) c.1222A>C (p.Ser408Arg) n.4152A>C n.4138A>C | |
| 15 | g.48756061T= | CA2175628497 | CEP152 | c.3187A= (p.Ser1063=) c.2908A= (p.Ser970=) c.1228A= (p.Ser410=) c.1222A= (p.Ser408=) n.4152A= n.4138A= | |
| 15 | g.48756062G>A | CA490311170 | CEP152 | c.3186C>T (p.Ile1062=) c.2907C>T (p.Ile969=) c.1227C>T (p.Ile409=) c.1221C>T (p.Ile407=) n.4151C>T n.4137C>T | COSMIC COSMIC |
| 15 | g.48756062G>C | CA392342018 | CEP152 | c.3186C>G (p.Ile1062Met) c.2907C>G (p.Ile969Met) c.1227C>G (p.Ile409Met) c.1221C>G (p.Ile407Met) n.4151C>G n.4137C>G | |
| 15 | g.48756062G= | CA2175628502 | CEP152 | c.3186C= (p.Ile1062=) c.2907C= (p.Ile969=) c.1227C= (p.Ile409=) c.1221C= (p.Ile407=) n.4151C= n.4137C= | |
| 15 | g.48756062G>T | CA7548409 | CEP152 | c.3186C>A (p.Ile1062=) c.2907C>A (p.Ile969=) c.1227C>A (p.Ile409=) c.1221C>A (p.Ile407=) n.4151C>A n.4137C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 15 | g.48756063A= | CA2175628505 | CEP152 | c.3185T= (p.Ile1062=) c.2906T= (p.Ile969=) c.1226T= (p.Ile409=) c.1220T= (p.Ile407=) n.4150T= n.4136T= | |
| 15 | g.48756063A>C | CA392342027 | CEP152 | c.3185T>G (p.Ile1062Ser) c.2906T>G (p.Ile969Ser) c.1226T>G (p.Ile409Ser) c.1220T>G (p.Ile407Ser) n.4150T>G n.4136T>G | |
| 15 | g.48756063A>G | CA392342024 | CEP152 | c.3185T>C (p.Ile1062Thr) c.2906T>C (p.Ile969Thr) c.1226T>C (p.Ile409Thr) c.1220T>C (p.Ile407Thr) n.4150T>C n.4136T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756063A>T | CA392342022 | CEP152 | c.3185T>A (p.Ile1062Asn) c.2906T>A (p.Ile969Asn) c.1226T>A (p.Ile409Asn) c.1220T>A (p.Ile407Asn) n.4150T>A n.4136T>A | |
| 15 | g.48756064T>A | CA392342028 | CEP152 | c.3184A>T (p.Ile1062Phe) c.2905A>T (p.Ile969Phe) c.1225A>T (p.Ile409Phe) c.1219A>T (p.Ile407Phe) n.4149A>T n.4135A>T | |
| 15 | g.48756064T>C | CA392342029 | CEP152 | c.3184A>G (p.Ile1062Val) c.2905A>G (p.Ile969Val) c.1225A>G (p.Ile409Val) c.1219A>G (p.Ile407Val) n.4149A>G n.4135A>G | gnomAD v4 |
| 15 | g.48756064T>G | CA392342031 | CEP152 | c.3184A>C (p.Ile1062Leu) c.2905A>C (p.Ile969Leu) c.1225A>C (p.Ile409Leu) c.1219A>C (p.Ile407Leu) n.4149A>C n.4135A>C | |
| 15 | g.48756065G>A | CA490311171 | CEP152 | c.3183C>T (p.His1061=) c.2904C>T (p.His968=) c.1224C>T (p.His408=) c.1218C>T (p.His406=) n.4148C>T n.4134C>T | |
| 15 | g.48756065G>C | CA392342032 | CEP152 | c.3183C>G (p.His1061Gln) c.2904C>G (p.His968Gln) c.1224C>G (p.His408Gln) c.1218C>G (p.His406Gln) n.4148C>G n.4134C>G | |
| 15 | g.48756065G>T | CA392342033 | CEP152 | c.3183C>A (p.His1061Gln) c.2904C>A (p.His968Gln) c.1224C>A (p.His408Gln) c.1218C>A (p.His406Gln) n.4148C>A n.4134C>A | |
| 15 | g.48756066T>A | CA392342035 | CEP152 | c.3182A>T (p.His1061Leu) c.2903A>T (p.His968Leu) c.1223A>T (p.His408Leu) c.1217A>T (p.His406Leu) n.4147A>T n.4133A>T | |
| 15 | g.48756066T>C | CA392342036 | CEP152 | c.3182A>G (p.His1061Arg) c.2903A>G (p.His968Arg) c.1223A>G (p.His408Arg) c.1217A>G (p.His406Arg) n.4147A>G n.4133A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756066T>G | CA392342038 | CEP152 | c.3182A>C (p.His1061Pro) c.2903A>C (p.His968Pro) c.1223A>C (p.His408Pro) c.1217A>C (p.His406Pro) n.4147A>C n.4133A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756066T= | CA2175628509 | CEP152 | c.3182A= (p.His1061=) c.2903A= (p.His968=) c.1223A= (p.His408=) c.1217A= (p.His406=) n.4147A= n.4133A= | |
| 15 | g.48756067G>A | CA392342040 | CEP152 | c.3181C>T (p.His1061Tyr) c.2902C>T (p.His968Tyr) c.1222C>T (p.His408Tyr) c.1216C>T (p.His406Tyr) n.4146C>T n.4132C>T | |
| 15 | g.48756067G>C | CA392342042 | CEP152 | c.3181C>G (p.His1061Asp) c.2902C>G (p.His968Asp) c.1222C>G (p.His408Asp) c.1216C>G (p.His406Asp) n.4146C>G n.4132C>G | |
| 15 | g.48756067G>T | CA392342045 | CEP152 | c.3181C>A (p.His1061Asn) c.2902C>A (p.His968Asn) c.1222C>A (p.His408Asn) c.1216C>A (p.His406Asn) n.4146C>A n.4132C>A | |
| 15 | g.48756068C>A | CA392342049 | CEP152 | c.3180G>T (p.Glu1060Asp) c.2901G>T (p.Glu967Asp) c.1221G>T (p.Glu407Asp) c.1215G>T (p.Glu405Asp) n.4145G>T n.4131G>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48756068C= | CA2175628512 | CEP152 | c.3180G= (p.Glu1060=) c.2901G= (p.Glu967=) c.1221G= (p.Glu407=) c.1215G= (p.Glu405=) n.4145G= n.4131G= | |
| 15 | g.48756068C>G | CA392342051 | CEP152 | c.3180G>C (p.Glu1060Asp) c.2901G>C (p.Glu967Asp) c.1221G>C (p.Glu407Asp) c.1215G>C (p.Glu405Asp) n.4145G>C n.4131G>C | |
| 15 | g.48756068C>T | CA490311172 | CEP152 | c.3180G>A (p.Glu1060=) c.2901G>A (p.Glu967=) c.1221G>A (p.Glu407=) c.1215G>A (p.Glu405=) n.4145G>A n.4131G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756070_48756072del | CA2628343358 | CEP152 | c.3178_3180del (p.Glu1060del) c.2899_2901del (p.Glu967del) c.1219_1221del (p.Glu407del) c.1213_1215del (p.Glu405del) n.4143_4145del n.4129_4131del | gnomAD v4 |
| 15 | g.48756069T>A | CA392342057 | CEP152 | c.3179A>T (p.Glu1060Val) c.2900A>T (p.Glu967Val) c.1220A>T (p.Glu407Val) c.1214A>T (p.Glu405Val) n.4144A>T n.4130A>T | |
| 15 | g.48756069T>C | CA392342060 | CEP152 | c.3179A>G (p.Glu1060Gly) c.2900A>G (p.Glu967Gly) c.1220A>G (p.Glu407Gly) c.1214A>G (p.Glu405Gly) n.4144A>G n.4130A>G | |
| 15 | g.48756069T>G | CA392342053 | CEP152 | c.3179A>C (p.Glu1060Ala) c.2900A>C (p.Glu967Ala) c.1220A>C (p.Glu407Ala) c.1214A>C (p.Glu405Ala) n.4144A>C n.4130A>C | |
| 15 | g.48756070C>A | CA392342062 | CEP152 | c.3178G>T (p.Glu1060Ter) c.2899G>T (p.Glu967Ter) c.1219G>T (p.Glu407Ter) c.1213G>T (p.Glu405Ter) n.4143G>T n.4129G>T | |
| 15 | g.48756070C= | CA2175628515 | CEP152 | c.3178G= (p.Glu1060=) c.2899G= (p.Glu967=) c.1219G= (p.Glu407=) c.1213G= (p.Glu405=) n.4143G= n.4129G= | |
| 15 | g.48756070C>G | CA392342064 | CEP152 | c.3178G>C (p.Glu1060Gln) c.2899G>C (p.Glu967Gln) c.1219G>C (p.Glu407Gln) c.1213G>C (p.Glu405Gln) n.4143G>C n.4129G>C | |
| 15 | g.48756070C>T | CA7548410 | CEP152 | c.3178G>A (p.Glu1060Lys) c.2899G>A (p.Glu967Lys) c.1219G>A (p.Glu407Lys) c.1213G>A (p.Glu405Lys) n.4143G>A n.4129G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756071del | CA2628343361 | CEP152 | c.3178del (p.Glu1060SerfsTer?) c.2899del (p.Glu967SerfsTer?) c.1219del (p.Glu407SerfsTer?) c.1213del (p.Glu405SerfsTer?) n.4143del n.4129del | gnomAD v4 |
| 15 | g.48756071C>A | CA392342067 | CEP152 | c.3177G>T (p.Lys1059Asn) c.2898G>T (p.Lys966Asn) c.1218G>T (p.Lys406Asn) c.1212G>T (p.Lys404Asn) n.4142G>T n.4128G>T | |
| 15 | g.48756071C>G | CA392342070 | CEP152 | c.3177G>C (p.Lys1059Asn) c.2898G>C (p.Lys966Asn) c.1218G>C (p.Lys406Asn) c.1212G>C (p.Lys404Asn) n.4142G>C n.4128G>C | |
| 15 | g.48756071C>T | CA490311173 | CEP152 | c.3177G>A (p.Lys1059=) c.2898G>A (p.Lys966=) c.1218G>A (p.Lys406=) c.1212G>A (p.Lys404=) n.4142G>A n.4128G>A | |
| 15 | g.48756072T>A | CA392342072 | CEP152 | c.3176A>T (p.Lys1059Met) c.2897A>T (p.Lys966Met) c.1217A>T (p.Lys406Met) c.1211A>T (p.Lys404Met) n.4141A>T n.4127A>T | |
| 15 | g.48756072T>C | CA392342074 | CEP152 | c.3176A>G (p.Lys1059Arg) c.2897A>G (p.Lys966Arg) c.1217A>G (p.Lys406Arg) c.1211A>G (p.Lys404Arg) n.4141A>G n.4127A>G | |
| 15 | g.48756072T>G | CA392342076 | CEP152 | c.3176A>C (p.Lys1059Thr) c.2897A>C (p.Lys966Thr) c.1217A>C (p.Lys406Thr) c.1211A>C (p.Lys404Thr) n.4141A>C n.4127A>C | |
| 15 | g.48756075del | CA2575718053 | CEP152 | c.3176del (p.Lys1059ArgfsTer?) c.2897del (p.Lys966ArgfsTer?) c.1217del (p.Lys406ArgfsTer?) c.1211del (p.Lys404ArgfsTer?) n.4141del n.4127del | |
| 15 | g.48756073T>A | CA392342077 | CEP152 | c.3175A>T (p.Lys1059Ter) c.2896A>T (p.Lys966Ter) c.1216A>T (p.Lys406Ter) c.1210A>T (p.Lys404Ter) n.4140A>T n.4126A>T | |
| 15 | g.48756073T>C | CA392342080 | CEP152 | c.3175A>G (p.Lys1059Glu) c.2896A>G (p.Lys966Glu) c.1216A>G (p.Lys406Glu) c.1210A>G (p.Lys404Glu) n.4140A>G n.4126A>G | |
| 15 | g.48756073T>G | CA392342083 | CEP152 | c.3175A>C (p.Lys1059Gln) c.2896A>C (p.Lys966Gln) c.1216A>C (p.Lys406Gln) c.1210A>C (p.Lys404Gln) n.4140A>C n.4126A>C | |
| 15 | g.48756074T>A | CA392342084 | CEP152 | c.3174A>T (p.Gln1058His) c.2895A>T (p.Gln965His) c.1215A>T (p.Gln405His) c.1209A>T (p.Gln403His) n.4139A>T n.4125A>T | |
| 15 | g.48756074T>C | CA490311174 | CEP152 | c.3174A>G (p.Gln1058=) c.2895A>G (p.Gln965=) c.1215A>G (p.Gln405=) c.1209A>G (p.Gln403=) n.4139A>G n.4125A>G | |
| 15 | g.48756074T>G | CA392342086 | CEP152 | c.3174A>C (p.Gln1058His) c.2895A>C (p.Gln965His) c.1215A>C (p.Gln405His) c.1209A>C (p.Gln403His) n.4139A>C n.4125A>C | |
| 15 | g.48756075T>A | CA392342087 | CEP152 | c.3173A>T (p.Gln1058Leu) c.2894A>T (p.Gln965Leu) c.1214A>T (p.Gln405Leu) c.1208A>T (p.Gln403Leu) n.4138A>T n.4124A>T | |
| 15 | g.48756075T>C | CA392342090 | CEP152 | c.3173A>G (p.Gln1058Arg) c.2894A>G (p.Gln965Arg) c.1214A>G (p.Gln405Arg) c.1208A>G (p.Gln403Arg) n.4138A>G n.4124A>G | |
| 15 | g.48756075T>G | CA7548411 | CEP152 | c.3173A>C (p.Gln1058Pro) c.2894A>C (p.Gln965Pro) c.1214A>C (p.Gln405Pro) c.1208A>C (p.Gln403Pro) n.4138A>C n.4124A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756075T= | CA2175628518 | CEP152 | c.3173A= (p.Gln1058=) c.2894A= (p.Gln965=) c.1214A= (p.Gln405=) c.1208A= (p.Gln403=) n.4138A= n.4124A= | |
| 15 | g.48756076G>A | CA392342093 | CEP152 | c.3172C>T (p.Gln1058Ter) c.2893C>T (p.Gln965Ter) c.1213C>T (p.Gln405Ter) c.1207C>T (p.Gln403Ter) n.4137C>T n.4123C>T | COSMIC COSMIC |
| 15 | g.48756076G>C | CA392342097 | CEP152 | c.3172C>G (p.Gln1058Glu) c.2893C>G (p.Gln965Glu) c.1213C>G (p.Gln405Glu) c.1207C>G (p.Gln403Glu) n.4137C>G n.4123C>G | |
| 15 | g.48756076G>T | CA392342098 | CEP152 | c.3172C>A (p.Gln1058Lys) c.2893C>A (p.Gln965Lys) c.1213C>A (p.Gln405Lys) c.1207C>A (p.Gln403Lys) n.4137C>A n.4123C>A | |
| 15 | g.48756078del | CA2628343362 | CEP152 | c.3172del (p.Gln1058LysfsTer?) c.2893del (p.Gln965LysfsTer?) c.1213del (p.Gln405LysfsTer?) c.1207del (p.Gln403LysfsTer?) n.4137del n.4123del | ClinVar gnomAD v4 |
| 15 | g.48756077G>A | CA490311175 | CEP152 | c.3171C>T (p.Thr1057=) c.2892C>T (p.Thr964=) c.1212C>T (p.Thr404=) c.1206C>T (p.Thr402=) n.4136C>T n.4122C>T | |
| 15 | g.48756077G>C | CA490311176 | CEP152 | c.3171C>G (p.Thr1057=) c.2892C>G (p.Thr964=) c.1212C>G (p.Thr404=) c.1206C>G (p.Thr402=) n.4136C>G n.4122C>G | |
| 15 | g.48756077G>T | CA490311177 | CEP152 | c.3171C>A (p.Thr1057=) c.2892C>A (p.Thr964=) c.1212C>A (p.Thr404=) c.1206C>A (p.Thr402=) n.4136C>A n.4122C>A | |
| 15 | g.48756078G>A | CA392342101 | CEP152 | c.3170C>T (p.Thr1057Ile) c.2891C>T (p.Thr964Ile) c.1211C>T (p.Thr404Ile) c.1205C>T (p.Thr402Ile) n.4135C>T n.4121C>T | dbSNP |
| 15 | g.48756078G>C | CA392342103 | CEP152 | c.3170C>G (p.Thr1057Ser) c.2891C>G (p.Thr964Ser) c.1211C>G (p.Thr404Ser) c.1205C>G (p.Thr402Ser) n.4135C>G n.4121C>G | |
| 15 | g.48756078G>T | CA392342106 | CEP152 | c.3170C>A (p.Thr1057Asn) c.2891C>A (p.Thr964Asn) c.1211C>A (p.Thr404Asn) c.1205C>A (p.Thr402Asn) n.4135C>A n.4121C>A | gnomAD v4 |
| 15 | g.48756079T>A | CA392342108 | CEP152 | c.3169A>T (p.Thr1057Ser) c.2890A>T (p.Thr964Ser) c.1210A>T (p.Thr404Ser) c.1204A>T (p.Thr402Ser) n.4134A>T n.4120A>T | |
| 15 | g.48756079T>C | CA392342109 | CEP152 | c.3169A>G (p.Thr1057Ala) c.2890A>G (p.Thr964Ala) c.1210A>G (p.Thr404Ala) c.1204A>G (p.Thr402Ala) n.4134A>G n.4120A>G | gnomAD v4 |
| 15 | g.48756079T>G | CA392342110 | CEP152 | c.3169A>C (p.Thr1057Pro) c.2890A>C (p.Thr964Pro) c.1210A>C (p.Thr404Pro) c.1204A>C (p.Thr402Pro) n.4134A>C n.4120A>C | |
| 15 | g.48756080A>C | CA392342112 | CEP152 | c.3168T>G (p.Asp1056Glu) c.2889T>G (p.Asp963Glu) c.1209T>G (p.Asp403Glu) c.1203T>G (p.Asp401Glu) n.4133T>G n.4119T>G | |
| 15 | g.48756080A>G | CA490311178 | CEP152 | c.3168T>C (p.Asp1056=) c.2889T>C (p.Asp963=) c.1209T>C (p.Asp403=) c.1203T>C (p.Asp401=) n.4133T>C n.4119T>C | ClinVar |
| 15 | g.48756080A>T | CA392342114 | CEP152 | c.3168T>A (p.Asp1056Glu) c.2889T>A (p.Asp963Glu) c.1209T>A (p.Asp403Glu) c.1203T>A (p.Asp401Glu) n.4133T>A n.4119T>A | |
| 15 | g.48756081T>A | CA392342119 | CEP152 | c.3167A>T (p.Asp1056Val) c.2888A>T (p.Asp963Val) c.1208A>T (p.Asp403Val) c.1202A>T (p.Asp401Val) n.4132A>T n.4118A>T | gnomAD v4 |
| 15 | g.48756081T>C | CA269537648 | CEP152 | c.3167A>G (p.Asp1056Gly) c.2888A>G (p.Asp963Gly) c.1208A>G (p.Asp403Gly) c.1202A>G (p.Asp401Gly) n.4132A>G n.4118A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756081T>G | CA392342117 | CEP152 | c.3167A>C (p.Asp1056Ala) c.2888A>C (p.Asp963Ala) c.1208A>C (p.Asp403Ala) c.1202A>C (p.Asp401Ala) n.4132A>C n.4118A>C | |
| 15 | g.48756081T= | CA2175628520 | CEP152 | c.3167A= (p.Asp1056=) c.2888A= (p.Asp963=) c.1208A= (p.Asp403=) c.1202A= (p.Asp401=) n.4132A= n.4118A= | |
| 15 | g.48756082C>A | CA392342126 | CEP152 | c.3166G>T (p.Asp1056Tyr) c.2887G>T (p.Asp963Tyr) c.1207G>T (p.Asp403Tyr) c.1201G>T (p.Asp401Tyr) n.4131G>T n.4117G>T | |
| 15 | g.48756082C>G | CA392342124 | CEP152 | c.3166G>C (p.Asp1056His) c.2887G>C (p.Asp963His) c.1207G>C (p.Asp403His) c.1201G>C (p.Asp401His) n.4131G>C n.4117G>C | |
| 15 | g.48756082C>T | CA392342130 | CEP152 | c.3166G>A (p.Asp1056Asn) c.2887G>A (p.Asp963Asn) c.1207G>A (p.Asp403Asn) c.1201G>A (p.Asp401Asn) n.4131G>A n.4117G>A | COSMIC |
| 15 | g.48756083A>C | CA392342134 | CEP152 | c.3165T>G (p.Ser1055Arg) c.2886T>G (p.Ser962Arg) c.1206T>G (p.Ser402Arg) c.1200T>G (p.Ser400Arg) n.4130T>G n.4116T>G | |
| 15 | g.48756083A>G | CA490311179 | CEP152 | c.3165T>C (p.Ser1055=) c.2886T>C (p.Ser962=) c.1206T>C (p.Ser402=) c.1200T>C (p.Ser400=) n.4130T>C n.4116T>C | |
| 15 | g.48756083A>T | CA392342136 | CEP152 | c.3165T>A (p.Ser1055Arg) c.2886T>A (p.Ser962Arg) c.1206T>A (p.Ser402Arg) c.1200T>A (p.Ser400Arg) n.4130T>A n.4116T>A | |
| 15 | g.48756084C>A | CA392342141 | CEP152 | c.3164G>T (p.Ser1055Ile) c.2885G>T (p.Ser962Ile) c.1205G>T (p.Ser402Ile) c.1199G>T (p.Ser400Ile) n.4129G>T n.4115G>T | |
| 15 | g.48756084C>G | CA392342144 | CEP152 | c.3164G>C (p.Ser1055Thr) c.2885G>C (p.Ser962Thr) c.1205G>C (p.Ser402Thr) c.1199G>C (p.Ser400Thr) n.4129G>C n.4115G>C | gnomAD v4 |
| 15 | g.48756084C>T | CA392342146 | CEP152 | c.3164G>A (p.Ser1055Asn) c.2885G>A (p.Ser962Asn) c.1205G>A (p.Ser402Asn) c.1199G>A (p.Ser400Asn) n.4129G>A n.4115G>A | |
| 15 | g.48756085T>A | CA392342149 | CEP152 | c.3163A>T (p.Ser1055Cys) c.2884A>T (p.Ser962Cys) c.1204A>T (p.Ser402Cys) c.1198A>T (p.Ser400Cys) n.4128A>T n.4114A>T | |
| 15 | g.48756085T>C | CA392342157 | CEP152 | c.3163A>G (p.Ser1055Gly) c.2884A>G (p.Ser962Gly) c.1204A>G (p.Ser402Gly) c.1198A>G (p.Ser400Gly) n.4128A>G n.4114A>G | |
| 15 | g.48756085T>G | CA392342159 | CEP152 | c.3163A>C (p.Ser1055Arg) c.2884A>C (p.Ser962Arg) c.1204A>C (p.Ser402Arg) c.1198A>C (p.Ser400Arg) n.4128A>C n.4114A>C | |
| 15 | g.48756086T>A | CA392342161 | CEP152 | c.3162A>T (p.Leu1054Phe) c.2883A>T (p.Leu961Phe) c.1203A>T (p.Leu401Phe) c.1197A>T (p.Leu399Phe) n.4127A>T n.4113A>T | |
| 15 | g.48756086T>C | CA490311180 | CEP152 | c.3162A>G (p.Leu1054=) c.2883A>G (p.Leu961=) c.1203A>G (p.Leu401=) c.1197A>G (p.Leu399=) n.4127A>G n.4113A>G | gnomAD v4 |
| 15 | g.48756086T>G | CA392342162 | CEP152 | c.3162A>C (p.Leu1054Phe) c.2883A>C (p.Leu961Phe) c.1203A>C (p.Leu401Phe) c.1197A>C (p.Leu399Phe) n.4127A>C n.4113A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756086T= | CA2175628523 | CEP152 | c.3162A= (p.Leu1054=) c.2883A= (p.Leu961=) c.1203A= (p.Leu401=) c.1197A= (p.Leu399=) n.4127A= n.4113A= | |
| 15 | g.48756087A>C | CA392342166 | CEP152 | c.3161T>G (p.Leu1054Ter) c.2882T>G (p.Leu961Ter) c.1202T>G (p.Leu401Ter) c.1196T>G (p.Leu399Ter) n.4126T>G n.4112T>G | |
| 15 | g.48756087A>G | CA392342169 | CEP152 | c.3161T>C (p.Leu1054Ser) c.2882T>C (p.Leu961Ser) c.1202T>C (p.Leu401Ser) c.1196T>C (p.Leu399Ser) n.4126T>C n.4112T>C | |
| 15 | g.48756087A>T | CA392342171 | CEP152 | c.3161T>A (p.Leu1054Ter) c.2882T>A (p.Leu961Ter) c.1202T>A (p.Leu401Ter) c.1196T>A (p.Leu399Ter) n.4126T>A n.4112T>A | |
| 15 | g.48756088A>C | CA392342173 | CEP152 | c.3160T>G (p.Leu1054Val) c.2881T>G (p.Leu961Val) c.1201T>G (p.Leu401Val) c.1195T>G (p.Leu399Val) n.4125T>G n.4111T>G | |
| 15 | g.48756088A>G | CA490311181 | CEP152 | c.3160T>C (p.Leu1054=) c.2881T>C (p.Leu961=) c.1201T>C (p.Leu401=) c.1195T>C (p.Leu399=) n.4125T>C n.4111T>C | |
| 15 | g.48756088A>T | CA392342174 | CEP152 | c.3160T>A (p.Leu1054Ile) c.2881T>A (p.Leu961Ile) c.1201T>A (p.Leu401Ile) c.1195T>A (p.Leu399Ile) n.4125T>A n.4111T>A | |
| 15 | g.48756089A>C | CA490311183 | CEP152 | c.3159T>G (p.Leu1053=) c.2880T>G (p.Leu960=) c.1200T>G (p.Leu400=) c.1194T>G (p.Leu398=) n.4124T>G n.4110T>G | |
| 15 | g.48756089A>G | CA490311184 | CEP152 | c.3159T>C (p.Leu1053=) c.2880T>C (p.Leu960=) c.1200T>C (p.Leu400=) c.1194T>C (p.Leu398=) n.4124T>C n.4110T>C | |
| 15 | g.48756089A>T | CA490311182 | CEP152 | c.3159T>A (p.Leu1053=) c.2880T>A (p.Leu960=) c.1200T>A (p.Leu400=) c.1194T>A (p.Leu398=) n.4124T>A n.4110T>A | |
| 15 | g.48756090A>C | CA392342177 | CEP152 | c.3158T>G (p.Leu1053Arg) c.2879T>G (p.Leu960Arg) c.1199T>G (p.Leu400Arg) c.1193T>G (p.Leu398Arg) n.4123T>G n.4109T>G | |
| 15 | g.48756090A>G | CA392342179 | CEP152 | c.3158T>C (p.Leu1053Pro) c.2879T>C (p.Leu960Pro) c.1199T>C (p.Leu400Pro) c.1193T>C (p.Leu398Pro) n.4123T>C n.4109T>C | |
| 15 | g.48756090A>T | CA392342183 | CEP152 | c.3158T>A (p.Leu1053His) c.2879T>A (p.Leu960His) c.1199T>A (p.Leu400His) c.1193T>A (p.Leu398His) n.4123T>A n.4109T>A | |
| 15 | g.48756091G>A | CA392342188 | CEP152 | c.3157C>T (p.Leu1053Phe) c.2878C>T (p.Leu960Phe) c.1198C>T (p.Leu400Phe) c.1192C>T (p.Leu398Phe) n.4122C>T n.4108C>T | |
| 15 | g.48756091G>C | CA392342190 | CEP152 | c.3157C>G (p.Leu1053Val) c.2878C>G (p.Leu960Val) c.1198C>G (p.Leu400Val) c.1192C>G (p.Leu398Val) n.4122C>G n.4108C>G | |
| 15 | g.48756091G>T | CA392342193 | CEP152 | c.3157C>A (p.Leu1053Ile) c.2878C>A (p.Leu960Ile) c.1198C>A (p.Leu400Ile) c.1192C>A (p.Leu398Ile) n.4122C>A n.4108C>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.48756092A>C | CA490311185 | CEP152 | c.3156T>G (p.Val1052=) c.2877T>G (p.Val959=) c.1197T>G (p.Val399=) c.1191T>G (p.Val397=) n.4121T>G n.4107T>G | |
| 15 | g.48756092A>G | CA490311186 | CEP152 | c.3156T>C (p.Val1052=) c.2877T>C (p.Val959=) c.1197T>C (p.Val399=) c.1191T>C (p.Val397=) n.4121T>C n.4107T>C | |
| 15 | g.48756092A>T | CA490311187 | CEP152 | c.3156T>A (p.Val1052=) c.2877T>A (p.Val959=) c.1197T>A (p.Val399=) c.1191T>A (p.Val397=) n.4121T>A n.4107T>A | |
| 15 | g.48756093A= | CA2175628526 | CEP152 | c.3155T= (p.Val1052=) c.2876T= (p.Val959=) c.1196T= (p.Val399=) c.1190T= (p.Val397=) n.4120T= n.4106T= | |
| 15 | g.48756093A>C | CA392342196 | CEP152 | c.3155T>G (p.Val1052Gly) c.2876T>G (p.Val959Gly) c.1196T>G (p.Val399Gly) c.1190T>G (p.Val397Gly) n.4120T>G n.4106T>G | |
| 15 | g.48756093A>G | CA7548412 | CEP152 | c.3155T>C (p.Val1052Ala) c.2876T>C (p.Val959Ala) c.1196T>C (p.Val399Ala) c.1190T>C (p.Val397Ala) n.4120T>C n.4106T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756093A>T | CA392342201 | CEP152 | c.3155T>A (p.Val1052Asp) c.2876T>A (p.Val959Asp) c.1196T>A (p.Val399Asp) c.1190T>A (p.Val397Asp) n.4120T>A n.4106T>A | |
| 15 | g.48756094C>A | CA392342204 | CEP152 | c.3154G>T (p.Val1052Phe) c.2875G>T (p.Val959Phe) c.1195G>T (p.Val399Phe) c.1189G>T (p.Val397Phe) n.4119G>T n.4105G>T | |
| 15 | g.48756094C= | CA2175628528 | CEP152 | c.3154G= (p.Val1052=) c.2875G= (p.Val959=) c.1195G= (p.Val399=) c.1189G= (p.Val397=) n.4119G= n.4105G= | |
| 15 | g.48756094C>G | CA392342216 | CEP152 | c.3154G>C (p.Val1052Leu) c.2875G>C (p.Val959Leu) c.1195G>C (p.Val399Leu) c.1189G>C (p.Val397Leu) n.4119G>C n.4105G>C | |
| 15 | g.48756094C>T | CA392342218 | CEP152 | c.3154G>A (p.Val1052Ile) c.2875G>A (p.Val959Ile) c.1195G>A (p.Val399Ile) c.1189G>A (p.Val397Ile) n.4119G>A n.4105G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756095C>A | CA490311190 | CEP152 | c.3153G>T (p.Gly1051=) c.2874G>T (p.Gly958=) c.1194G>T (p.Gly398=) c.1188G>T (p.Gly396=) n.4118G>T n.4104G>T | ClinVar |
| 15 | g.48756095C>G | CA490311189 | CEP152 | c.3153G>C (p.Gly1051=) c.2874G>C (p.Gly958=) c.1194G>C (p.Gly398=) c.1188G>C (p.Gly396=) n.4118G>C n.4104G>C | |
| 15 | g.48756095C>T | CA490311188 | CEP152 | c.3153G>A (p.Gly1051=) c.2874G>A (p.Gly958=) c.1194G>A (p.Gly398=) c.1188G>A (p.Gly396=) n.4118G>A n.4104G>A | gnomAD v4 |
| 15 | g.48756096C>A | CA392342222 | CEP152 | c.3152G>T (p.Gly1051Val) c.2873G>T (p.Gly958Val) c.1193G>T (p.Gly398Val) c.1187G>T (p.Gly396Val) n.4117G>T n.4103G>T | |
| 15 | g.48756096C>G | CA392342227 | CEP152 | c.3152G>C (p.Gly1051Ala) c.2873G>C (p.Gly958Ala) c.1193G>C (p.Gly398Ala) c.1187G>C (p.Gly396Ala) n.4117G>C n.4103G>C | |
| 15 | g.48756096C>T | CA392342226 | CEP152 | c.3152G>A (p.Gly1051Glu) c.2873G>A (p.Gly958Glu) c.1193G>A (p.Gly398Glu) c.1187G>A (p.Gly396Glu) n.4117G>A n.4103G>A | |
| 15 | g.48756097C>A | CA392342230 | CEP152 | c.3151G>T (p.Gly1051Trp) c.2872G>T (p.Gly958Trp) c.1192G>T (p.Gly398Trp) c.1186G>T (p.Gly396Trp) n.4116G>T n.4102G>T | |
| 15 | g.48756097C>G | CA392342234 | CEP152 | c.3151G>C (p.Gly1051Arg) c.2872G>C (p.Gly958Arg) c.1192G>C (p.Gly398Arg) c.1186G>C (p.Gly396Arg) n.4116G>C n.4102G>C | |
| 15 | g.48756097C>T | CA392342240 | CEP152 | c.3151G>A (p.Gly1051Arg) c.2872G>A (p.Gly958Arg) c.1192G>A (p.Gly398Arg) c.1186G>A (p.Gly396Arg) n.4116G>A n.4102G>A | |
| 15 | g.48756098A>C | CA490311191 | CEP152 | c.3150T>G (p.Leu1050=) c.2871T>G (p.Leu957=) c.1191T>G (p.Leu397=) c.1185T>G (p.Leu395=) n.4115T>G n.4101T>G | |
| 15 | g.48756098A>G | CA490311192 | CEP152 | c.3150T>C (p.Leu1050=) c.2871T>C (p.Leu957=) c.1191T>C (p.Leu397=) c.1185T>C (p.Leu395=) n.4115T>C n.4101T>C | |
| 15 | g.48756098A>T | CA490311193 | CEP152 | c.3150T>A (p.Leu1050=) c.2871T>A (p.Leu957=) c.1191T>A (p.Leu397=) c.1185T>A (p.Leu395=) n.4115T>A n.4101T>A | |
| 15 | g.48756099A= | CA2175628533 | CEP152 | c.3149T= (p.Leu1050=) c.2870T= (p.Leu957=) c.1190T= (p.Leu397=) c.1184T= (p.Leu395=) n.4114T= n.4100T= | |
| 15 | g.48756099A>C | CA392342242 | CEP152 | c.3149T>G (p.Leu1050Arg) c.2870T>G (p.Leu957Arg) c.1190T>G (p.Leu397Arg) c.1184T>G (p.Leu395Arg) n.4114T>G n.4100T>G | |
| 15 | g.48756099A>G | CA210980 | CEP152 | c.3149T>C (p.Leu1050Pro) c.2870T>C (p.Leu957Pro) c.1190T>C (p.Leu397Pro) c.1184T>C (p.Leu395Pro) n.4114T>C n.4100T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756099A>T | CA392342247 | CEP152 | c.3149T>A (p.Leu1050His) c.2870T>A (p.Leu957His) c.1190T>A (p.Leu397His) c.1184T>A (p.Leu395His) n.4114T>A n.4100T>A | |
| 15 | g.48756100G>A | CA392342251 | CEP152 | c.3148C>T (p.Leu1050Phe) c.2869C>T (p.Leu957Phe) c.1189C>T (p.Leu397Phe) c.1183C>T (p.Leu395Phe) n.4113C>T n.4099C>T | |
| 15 | g.48756100G>C | CA392342258 | CEP152 | c.3148C>G (p.Leu1050Val) c.2869C>G (p.Leu957Val) c.1189C>G (p.Leu397Val) c.1183C>G (p.Leu395Val) n.4113C>G n.4099C>G | |
| 15 | g.48756100G= | CA2175628539 | CEP152 | c.3148C= (p.Leu1050=) c.2869C= (p.Leu957=) c.1189C= (p.Leu397=) c.1183C= (p.Leu395=) n.4113C= n.4099C= | |
| 15 | g.48756100G>T | CA7548413 | CEP152 | c.3148C>A (p.Leu1050Ile) c.2869C>A (p.Leu957Ile) c.1189C>A (p.Leu397Ile) c.1183C>A (p.Leu395Ile) n.4113C>A n.4099C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48756101T>A | CA490311194 | CEP152 | c.3147A>T (p.Val1049=) c.2868A>T (p.Val956=) c.1188A>T (p.Val396=) c.1182A>T (p.Val394=) n.4112A>T n.4098A>T | |
| 15 | g.48756101T>C | CA490311195 | CEP152 | c.3147A>G (p.Val1049=) c.2868A>G (p.Val956=) c.1188A>G (p.Val396=) c.1182A>G (p.Val394=) n.4112A>G n.4098A>G | |
| 15 | g.48756101T>G | CA490311196 | CEP152 | c.3147A>C (p.Val1049=) c.2868A>C (p.Val956=) c.1188A>C (p.Val396=) c.1182A>C (p.Val394=) n.4112A>C n.4098A>C | |
| 15 | g.48756101dup | CA2804077934 | CEP152 | c.3147dup (p.Leu1050ThrfsTer7) c.2868dup (p.Leu957ThrfsTer7) c.1188dup (p.Leu397ThrfsTer7) c.1182dup (p.Leu395ThrfsTer7) n.4112dup n.4098dup | |
| 15 | g.48756102A>C | CA392342262 | CEP152 | c.3146T>G (p.Val1049Gly) c.2867T>G (p.Val956Gly) c.1187T>G (p.Val396Gly) c.1181T>G (p.Val394Gly) n.4111T>G n.4097T>G | |
| 15 | g.48756102A>G | CA392342263 | CEP152 | c.3146T>C (p.Val1049Ala) c.2867T>C (p.Val956Ala) c.1187T>C (p.Val396Ala) c.1181T>C (p.Val394Ala) n.4111T>C n.4097T>C | |
| 15 | g.48756102A>T | CA392342264 | CEP152 | c.3146T>A (p.Val1049Glu) c.2867T>A (p.Val956Glu) c.1187T>A (p.Val396Glu) c.1181T>A (p.Val394Glu) n.4111T>A n.4097T>A | |
| 15 | g.48756103C>A | CA392342273 | CEP152 | c.3145G>T (p.Val1049Leu) c.2866G>T (p.Val956Leu) c.1186G>T (p.Val396Leu) c.1180G>T (p.Val394Leu) n.4110G>T n.4096G>T | |
| 15 | g.48756103C>G | CA392342268 | CEP152 | c.3145G>C (p.Val1049Leu) c.2866G>C (p.Val956Leu) c.1186G>C (p.Val396Leu) c.1180G>C (p.Val394Leu) n.4110G>C n.4096G>C | |
| 15 | g.48756103C>T | CA392342270 | CEP152 | c.3145G>A (p.Val1049Ile) c.2866G>A (p.Val956Ile) c.1186G>A (p.Val396Ile) c.1180G>A (p.Val394Ile) n.4110G>A n.4096G>A | |
| 15 | g.48756104A>C | CA490311197 | CEP152 | c.3144T>G (p.Thr1048=) c.2865T>G (p.Thr955=) c.1185T>G (p.Thr395=) c.1179T>G (p.Thr393=) n.4109T>G n.4095T>G | |
| 15 | g.48756104A>G | CA490311198 | CEP152 | c.3144T>C (p.Thr1048=) c.2865T>C (p.Thr955=) c.1185T>C (p.Thr395=) c.1179T>C (p.Thr393=) n.4109T>C n.4095T>C | |
| 15 | g.48756104A>T | CA490311199 | CEP152 | c.3144T>A (p.Thr1048=) c.2865T>A (p.Thr955=) c.1185T>A (p.Thr395=) c.1179T>A (p.Thr393=) n.4109T>A n.4095T>A | |
| 15 | g.48756105G>A | CA392342278 | CEP152 | c.3143C>T (p.Thr1048Ile) c.2864C>T (p.Thr955Ile) c.1184C>T (p.Thr395Ile) c.1178C>T (p.Thr393Ile) n.4108C>T n.4094C>T | gnomAD v4 |
| 15 | g.48756105G>C | CA392342280 | CEP152 | c.3143C>G (p.Thr1048Ser) c.2864C>G (p.Thr955Ser) c.1184C>G (p.Thr395Ser) c.1178C>G (p.Thr393Ser) n.4108C>G n.4094C>G | |
| 15 | g.48756105G>T | CA392342283 | CEP152 | c.3143C>A (p.Thr1048Asn) c.2864C>A (p.Thr955Asn) c.1184C>A (p.Thr395Asn) c.1178C>A (p.Thr393Asn) n.4108C>A n.4094C>A | |
| 15 | g.48756106T>A | CA392342287 | CEP152 | c.3142A>T (p.Thr1048Ser) c.2863A>T (p.Thr955Ser) c.1183A>T (p.Thr395Ser) c.1177A>T (p.Thr393Ser) n.4107A>T n.4093A>T | |
| 15 | g.48756106T>C | CA392342290 | CEP152 | c.3142A>G (p.Thr1048Ala) c.2863A>G (p.Thr955Ala) c.1183A>G (p.Thr395Ala) c.1177A>G (p.Thr393Ala) n.4107A>G n.4093A>G | |
| 15 | g.48756106T>G | CA392342300 | CEP152 | c.3142A>C (p.Thr1048Pro) c.2863A>C (p.Thr955Pro) c.1183A>C (p.Thr395Pro) c.1177A>C (p.Thr393Pro) n.4107A>C n.4093A>C | |
| 15 | g.48756107C>A | CA490311200 | CEP152 | c.3141G>T (p.Leu1047=) c.2862G>T (p.Leu954=) c.1182G>T (p.Leu394=) c.1176G>T (p.Leu392=) n.4106G>T n.4092G>T | |
| 15 | g.48756107C>G | CA490311201 | CEP152 | c.3141G>C (p.Leu1047=) c.2862G>C (p.Leu954=) c.1182G>C (p.Leu394=) c.1176G>C (p.Leu392=) n.4106G>C n.4092G>C | ClinVar gnomAD v4 |
| 15 | g.48756107C>T | CA490311202 | CEP152 | c.3141G>A (p.Leu1047=) c.2862G>A (p.Leu954=) c.1182G>A (p.Leu394=) c.1176G>A (p.Leu392=) n.4106G>A n.4092G>A | |
| 15 | g.48756108A>C | CA392342308 | CEP152 | c.3140T>G (p.Leu1047Arg) c.2861T>G (p.Leu954Arg) c.1181T>G (p.Leu394Arg) c.1175T>G (p.Leu392Arg) n.4105T>G n.4091T>G | |
| 15 | g.48756108A>G | CA392342311 | CEP152 | c.3140T>C (p.Leu1047Pro) c.2861T>C (p.Leu954Pro) c.1181T>C (p.Leu394Pro) c.1175T>C (p.Leu392Pro) n.4105T>C n.4091T>C | |
| 15 | g.48756108A>T | CA392342313 | CEP152 | c.3140T>A (p.Leu1047Gln) c.2861T>A (p.Leu954Gln) c.1181T>A (p.Leu394Gln) c.1175T>A (p.Leu392Gln) n.4105T>A n.4091T>A | |
| 15 | g.48756109G>A | CA490311203 | CEP152 | c.3139C>T (p.Leu1047=) c.2860C>T (p.Leu954=) c.1180C>T (p.Leu394=) c.1174C>T (p.Leu392=) n.4104C>T n.4090C>T | dbSNP gnomAD v4 |
| 15 | g.48756109G>C | CA392342325 | CEP152 | c.3139C>G (p.Leu1047Val) c.2860C>G (p.Leu954Val) c.1180C>G (p.Leu394Val) c.1174C>G (p.Leu392Val) n.4104C>G n.4090C>G | |
| 15 | g.48756109G>T | CA392342327 | CEP152 | c.3139C>A (p.Leu1047Met) c.2860C>A (p.Leu954Met) c.1180C>A (p.Leu394Met) c.1174C>A (p.Leu392Met) n.4104C>A n.4090C>A | |
| 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.48756110G>A | CA490311205 | CEP152 | c.3138C>T (p.Ile1046=) c.2859C>T (p.Ile953=) c.1179C>T (p.Ile393=) c.1173C>T (p.Ile391=) n.4103C>T n.4089C>T | |
| 15 | g.48756110G>C | CA392342329 | CEP152 | c.3138C>G (p.Ile1046Met) c.2859C>G (p.Ile953Met) c.1179C>G (p.Ile393Met) c.1173C>G (p.Ile391Met) n.4103C>G n.4089C>G | |
| 15 | g.48756110G>T | CA490311204 | CEP152 | c.3138C>A (p.Ile1046=) c.2859C>A (p.Ile953=) c.1179C>A (p.Ile393=) c.1173C>A (p.Ile391=) n.4103C>A n.4089C>A | |
| 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 |