UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48756232_48756234delinsTTT | CA2175628893 | CEP152 | c.3014_3016delinsAAA (p.Lys1005=) c.2735_2737delinsAAA (p.Lys912=) c.1055_1057delinsAAA (p.Lys352=) c.1049_1051delinsAAA (p.Lys350=) n.3979_3981delinsAAA n.3965_3967delinsAAA | |
| 15 | g.48756237del | CA211050 | CEP152 | c.3016del (p.Thr1006LeufsTer15) c.2737del (p.Thr913LeufsTer15) c.1057del (p.Thr353LeufsTer15) c.1051del (p.Thr351LeufsTer15) n.3981del n.3967del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756233T>A | CA392342910 | CEP152 | c.3015A>T (p.Lys1005Asn) c.2736A>T (p.Lys912Asn) c.1056A>T (p.Lys352Asn) c.1050A>T (p.Lys350Asn) n.3980A>T n.3966A>T | |
| 15 | g.48756233T>C | CA490311276 | CEP152 | c.3015A>G (p.Lys1005=) c.2736A>G (p.Lys912=) c.1056A>G (p.Lys352=) c.1050A>G (p.Lys350=) n.3980A>G n.3966A>G | |
| 15 | g.48756233T>G | CA392342911 | CEP152 | c.3015A>C (p.Lys1005Asn) c.2736A>C (p.Lys912Asn) c.1056A>C (p.Lys352Asn) c.1050A>C (p.Lys350Asn) n.3980A>C n.3966A>C | |
| 15 | g.48756233_48756234delinsA | CA211155 | CEP152 | c.3014_3015delinsT (p.Lys1005IlefsTer16) c.2735_2736delinsT (p.Lys912IlefsTer16) c.1055_1056delinsT (p.Lys352IlefsTer16) c.1049_1050delinsT (p.Lys350IlefsTer16) n.3979_3980delinsT n.3965_3966delinsT | ClinVar dbSNP |
| 15 | g.48756234T>A | CA211047 | CEP152 | c.3014A>T (p.Lys1005Ile) c.2735A>T (p.Lys912Ile) c.1055A>T (p.Lys352Ile) c.1049A>T (p.Lys350Ile) n.3979A>T n.3965A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48756234T>C | CA392342912 | CEP152 | c.3014A>G (p.Lys1005Arg) c.2735A>G (p.Lys912Arg) c.1055A>G (p.Lys352Arg) c.1049A>G (p.Lys350Arg) n.3979A>G n.3965A>G | |
| 15 | g.48756234T>G | CA392342913 | CEP152 | c.3014A>C (p.Lys1005Thr) c.2735A>C (p.Lys912Thr) c.1055A>C (p.Lys352Thr) c.1049A>C (p.Lys350Thr) n.3979A>C n.3965A>C | |
| 15 | g.48756234T= | CA2175628901 | CEP152 | c.3014A= (p.Lys1005=) c.2735A= (p.Lys912=) c.1055A= (p.Lys352=) c.1049A= (p.Lys350=) n.3979A= n.3965A= | |
| 15 | g.48756235T>A | CA392342914 | CEP152 | c.3013A>T (p.Lys1005Ter) c.2734A>T (p.Lys912Ter) c.1054A>T (p.Lys352Ter) c.1048A>T (p.Lys350Ter) n.3978A>T n.3964A>T | |
| 15 | g.48756235T>C | CA392342916 | CEP152 | c.3013A>G (p.Lys1005Glu) c.2734A>G (p.Lys912Glu) c.1054A>G (p.Lys352Glu) c.1048A>G (p.Lys350Glu) n.3978A>G n.3964A>G | |
| 15 | g.48756235T>G | CA392342915 | CEP152 | c.3013A>C (p.Lys1005Gln) c.2734A>C (p.Lys912Gln) c.1054A>C (p.Lys352Gln) c.1048A>C (p.Lys350Gln) n.3978A>C n.3964A>C | |
| 15 | g.48756236T>A | CA392342917 | CEP152 | c.3012A>T (p.Gln1004His) c.2733A>T (p.Gln911His) c.1053A>T (p.Gln351His) c.1047A>T (p.Gln349His) n.3977A>T n.3963A>T | |
| 15 | g.48756236T>C | CA490311277 | CEP152 | c.3012A>G (p.Gln1004=) c.2733A>G (p.Gln911=) c.1053A>G (p.Gln351=) c.1047A>G (p.Gln349=) n.3977A>G n.3963A>G | gnomAD v4 |
| 15 | g.48756236T>G | CA392342918 | CEP152 | c.3012A>C (p.Gln1004His) c.2733A>C (p.Gln911His) c.1053A>C (p.Gln351His) c.1047A>C (p.Gln349His) n.3977A>C n.3963A>C | |
| 15 | g.48756236_48756238delinsTTG | CA2175628905 | CEP152 | c.3010_3012delinsCAA (p.Gln1004=) c.2731_2733delinsCAA (p.Gln911=) c.1051_1053delinsCAA (p.Gln351=) c.1045_1047delinsCAA (p.Gln349=) n.3975_3977delinsCAA n.3961_3963delinsCAA | |
| 15 | g.48756237T>A | CA392342919 | CEP152 | c.3011A>T (p.Gln1004Leu) c.2732A>T (p.Gln911Leu) c.1052A>T (p.Gln351Leu) c.1046A>T (p.Gln349Leu) n.3976A>T n.3962A>T | |
| 15 | g.48756237T>C | CA392342920 | CEP152 | c.3011A>G (p.Gln1004Arg) c.2732A>G (p.Gln911Arg) c.1052A>G (p.Gln351Arg) c.1046A>G (p.Gln349Arg) n.3976A>G n.3962A>G | |
| 15 | g.48756237T>G | CA392342921 | CEP152 | c.3011A>C (p.Gln1004Pro) c.2732A>C (p.Gln911Pro) c.1052A>C (p.Gln351Pro) c.1046A>C (p.Gln349Pro) n.3976A>C n.3962A>C | |
| 15 | g.48756238_48756239del | CA2175628909 | CEP152 | c.3010_3011del (p.Gln1004LysfsTer3) c.2731_2732del (p.Gln911LysfsTer3) c.1051_1052del (p.Gln351LysfsTer3) c.1045_1046del (p.Gln349LysfsTer3) n.3975_3976del n.3961_3962del | dbSNP |
| 15 | g.48756238G>A | CA392342922 | CEP152 | c.3010C>T (p.Gln1004Ter) c.2731C>T (p.Gln911Ter) c.1051C>T (p.Gln351Ter) c.1045C>T (p.Gln349Ter) n.3975C>T n.3961C>T | gnomAD v4 |
| 15 | g.48756238G>C | CA392342923 | CEP152 | c.3010C>G (p.Gln1004Glu) c.2731C>G (p.Gln911Glu) c.1051C>G (p.Gln351Glu) c.1045C>G (p.Gln349Glu) n.3975C>G n.3961C>G | |
| 15 | g.48756238G= | CA2175628912 | CEP152 | c.3010C= (p.Gln1004=) c.2731C= (p.Gln911=) c.1051C= (p.Gln351=) c.1045C= (p.Gln349=) n.3975C= n.3961C= | |
| 15 | g.48756238G>T | CA392342924 | CEP152 | c.3010C>A (p.Gln1004Lys) c.2731C>A (p.Gln911Lys) c.1051C>A (p.Gln351Lys) c.1045C>A (p.Gln349Lys) n.3975C>A n.3961C>A | dbSNP |
| 15 | g.48756239T>A | CA392342925 | CEP152 | c.3009A>T (p.Lys1003Asn) c.2730A>T (p.Lys910Asn) c.1050A>T (p.Lys350Asn) c.1044A>T (p.Lys348Asn) n.3974A>T n.3960A>T | |
| 15 | g.48756239T>C | CA490311278 | CEP152 | c.3009A>G (p.Lys1003=) c.2730A>G (p.Lys910=) c.1050A>G (p.Lys350=) c.1044A>G (p.Lys348=) n.3974A>G n.3960A>G | |
| 15 | g.48756239T>G | CA392342926 | CEP152 | c.3009A>C (p.Lys1003Asn) c.2730A>C (p.Lys910Asn) c.1050A>C (p.Lys350Asn) c.1044A>C (p.Lys348Asn) n.3974A>C n.3960A>C | |
| 15 | g.48756240T>A | CA392342929 | CEP152 | c.3008A>T (p.Lys1003Ile) c.2729A>T (p.Lys910Ile) c.1049A>T (p.Lys350Ile) c.1043A>T (p.Lys348Ile) n.3973A>T n.3959A>T | |
| 15 | g.48756240T>C | CA392342928 | CEP152 | c.3008A>G (p.Lys1003Arg) c.2729A>G (p.Lys910Arg) c.1049A>G (p.Lys350Arg) c.1043A>G (p.Lys348Arg) n.3973A>G n.3959A>G | |
| 15 | g.48756240T>G | CA392342927 | CEP152 | c.3008A>C (p.Lys1003Thr) c.2729A>C (p.Lys910Thr) c.1049A>C (p.Lys350Thr) c.1043A>C (p.Lys348Thr) n.3973A>C n.3959A>C | |
| 15 | g.48756241T>A | CA392342930 | CEP152 | c.3007A>T (p.Lys1003Ter) c.2728A>T (p.Lys910Ter) c.1048A>T (p.Lys350Ter) c.1042A>T (p.Lys348Ter) n.3972A>T n.3958A>T | |
| 15 | g.48756241T>C | CA392342931 | CEP152 | c.3007A>G (p.Lys1003Glu) c.2728A>G (p.Lys910Glu) c.1048A>G (p.Lys350Glu) c.1042A>G (p.Lys348Glu) n.3972A>G n.3958A>G | |
| 15 | g.48756241T>G | CA392342932 | CEP152 | c.3007A>C (p.Lys1003Gln) c.2728A>C (p.Lys910Gln) c.1048A>C (p.Lys350Gln) c.1042A>C (p.Lys348Gln) n.3972A>C n.3958A>C | gnomAD v4 |
| 15 | g.48756242C>A | CA392342933 | CEP152 | c.3006G>T (p.Met1002Ile) c.2727G>T (p.Met909Ile) c.1047G>T (p.Met349Ile) c.1041G>T (p.Met347Ile) n.3971G>T n.3957G>T | |
| 15 | g.48756242C>G | CA392342934 | CEP152 | c.3006G>C (p.Met1002Ile) c.2727G>C (p.Met909Ile) c.1047G>C (p.Met349Ile) c.1041G>C (p.Met347Ile) n.3971G>C n.3957G>C | |
| 15 | g.48756242C>T | CA392342935 | CEP152 | c.3006G>A (p.Met1002Ile) c.2727G>A (p.Met909Ile) c.1047G>A (p.Met349Ile) c.1041G>A (p.Met347Ile) n.3971G>A n.3957G>A | |
| 15 | g.48756243A>C | CA392342938 | CEP152 | c.3005T>G (p.Met1002Arg) c.2726T>G (p.Met909Arg) c.1046T>G (p.Met349Arg) c.1040T>G (p.Met347Arg) n.3970T>G n.3956T>G | |
| 15 | g.48756243A>G | CA392342937 | CEP152 | c.3005T>C (p.Met1002Thr) c.2726T>C (p.Met909Thr) c.1046T>C (p.Met349Thr) c.1040T>C (p.Met347Thr) n.3970T>C n.3956T>C | |
| 15 | g.48756243A>T | CA392342936 | CEP152 | c.3005T>A (p.Met1002Lys) c.2726T>A (p.Met909Lys) c.1046T>A (p.Met349Lys) c.1040T>A (p.Met347Lys) n.3970T>A n.3956T>A | |
| 15 | g.48756244T>A | CA392342939 | CEP152 | c.3004A>T (p.Met1002Leu) c.2725A>T (p.Met909Leu) c.1045A>T (p.Met349Leu) c.1039A>T (p.Met347Leu) n.3969A>T n.3955A>T | |
| 15 | g.48756244T>C | CA392342940 | CEP152 | c.3004A>G (p.Met1002Val) c.2725A>G (p.Met909Val) c.1045A>G (p.Met349Val) c.1039A>G (p.Met347Val) n.3969A>G n.3955A>G | dbSNP |
| 15 | g.48756244T>G | CA392342941 | CEP152 | c.3004A>C (p.Met1002Leu) c.2725A>C (p.Met909Leu) c.1045A>C (p.Met349Leu) c.1039A>C (p.Met347Leu) n.3969A>C n.3955A>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48756244T= | CA2175628915 | CEP152 | c.3004A= (p.Met1002=) c.2725A= (p.Met909=) c.1045A= (p.Met349=) c.1039A= (p.Met347=) n.3969A= n.3955A= | |
| 15 | g.48756245A= | CA2175628919 | CEP152 | c.3003T= (p.Phe1001=) c.2724T= (p.Phe908=) c.1044T= (p.Phe348=) c.1038T= (p.Phe346=) n.3968T= n.3954T= | |
| 15 | g.48756245A>C | CA392342942 | CEP152 | c.3003T>G (p.Phe1001Leu) c.2724T>G (p.Phe908Leu) c.1044T>G (p.Phe348Leu) c.1038T>G (p.Phe346Leu) n.3968T>G n.3954T>G | |
| 15 | g.48756245A>G | CA7548431 | CEP152 | c.3003T>C (p.Phe1001=) c.2724T>C (p.Phe908=) c.1044T>C (p.Phe348=) c.1038T>C (p.Phe346=) n.3968T>C n.3954T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48756245A>T | CA392342943 | CEP152 | c.3003T>A (p.Phe1001Leu) c.2724T>A (p.Phe908Leu) c.1044T>A (p.Phe348Leu) c.1038T>A (p.Phe346Leu) n.3968T>A n.3954T>A | |
| 15 | g.48756246A>C | CA392342946 | CEP152 | c.3002T>G (p.Phe1001Cys) c.2723T>G (p.Phe908Cys) c.1043T>G (p.Phe348Cys) c.1037T>G (p.Phe346Cys) n.3967T>G n.3953T>G | |
| 15 | g.48756246A>G | CA392342944 | CEP152 | c.3002T>C (p.Phe1001Ser) c.2723T>C (p.Phe908Ser) c.1043T>C (p.Phe348Ser) c.1037T>C (p.Phe346Ser) n.3967T>C n.3953T>C |