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 |
|---|---|---|---|---|---|
| 2 | g.21002407_21002416del | CA2658054429 | APOB | c.13008_13017del (p.Phe4337IlefsTer9) c.13008_13017del (p.Phe4337IlefsTer?) c.5870-3141_5870-3132del (n.5870-3141_5870-3132del) | gnomAD v4 |
| 2 | g.21002412A>C | CA345969837 | APOB | c.13010T>G (p.Phe4337Cys) c.5870-3139T>G (n.5870-3139T>G) | |
| 2 | g.21002412A>G | CA345969839 | APOB | c.13010T>C (p.Phe4337Ser) c.5870-3139T>C (n.5870-3139T>C) | |
| 2 | g.21002412A>T | CA345969841 | APOB | c.13010T>A (p.Phe4337Tyr) c.5870-3139T>A (n.5870-3139T>A) | |
| 2 | g.21002413A>C | CA345969843 | APOB | c.13009T>G (p.Phe4337Val) c.5870-3140T>G (n.5870-3140T>G) | |
| 2 | g.21002413A>G | CA345969844 | APOB | c.13009T>C (p.Phe4337Leu) c.5870-3140T>C (n.5870-3140T>C) | gnomAD v4 |
| 2 | g.21002413A>T | CA345969846 | APOB | c.13009T>A (p.Phe4337Ile) c.5870-3140T>A (n.5870-3140T>A) | |
| 2 | g.21002414G>A | CA43488271 | APOB | c.13008C>T (p.Ile4336=) c.5870-3141C>T (n.5870-3141C>T) | dbSNP |
| 2 | g.21002414G>C | CA345969849 | APOB | c.13008C>G (p.Ile4336Met) c.5870-3141C>G (n.5870-3141C>G) | |
| 2 | g.21002414G= | CA2493472972 | APOB | c.13008C= (p.Ile4336=) c.5870-3141C= (n.5870-3141C=) | |
| 2 | g.21002414G>T | CA425341965 | APOB | c.13008C>A (p.Ile4336=) c.5870-3141C>A (n.5870-3141C>A) | gnomAD v4 |
| 2 | g.21002415A>C | CA345969853 | APOB | c.13007T>G (p.Ile4336Ser) c.5870-3142T>G (n.5870-3142T>G) | |
| 2 | g.21002415A>G | CA345969850 | APOB | c.13007T>C (p.Ile4336Thr) c.5870-3142T>C (n.5870-3142T>C) | |
| 2 | g.21002415A>T | CA345969852 | APOB | c.13007T>A (p.Ile4336Asn) c.5870-3142T>A (n.5870-3142T>A) | |
| 2 | g.21002416T>A | CA345969855 | APOB | c.13006A>T (p.Ile4336Phe) c.5870-3143A>T (n.5870-3143A>T) | |
| 2 | g.21002416T>C | CA345969857 | APOB | c.13006A>G (p.Ile4336Val) c.5870-3143A>G (n.5870-3143A>G) | gnomAD v4 |
| 2 | g.21002416T>G | CA345969859 | APOB | c.13006A>C (p.Ile4336Leu) c.5870-3143A>C (n.5870-3143A>C) | |
| 2 | g.21002417T>A | CA425341972 | APOB | c.13005A>T (p.Thr4335=) c.5870-3144A>T (n.5870-3144A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21002417T>C | CA425341974 | APOB | c.13005A>G (p.Thr4335=) c.5870-3144A>G (n.5870-3144A>G) | |
| 2 | g.21002417T>G | CA425341975 | APOB | c.13005A>C (p.Thr4335=) c.5870-3144A>C (n.5870-3144A>C) | |
| 2 | g.21002417T= | CA2493472973 | APOB | c.13005A= (p.Thr4335=) c.5870-3144A= (n.5870-3144A=) | |
| 2 | g.21002418G>A | CA345969861 | APOB | c.13004C>T (p.Thr4335Ile) c.5870-3145C>T (n.5870-3145C>T) | ClinVar dbSNP |
| 2 | g.21002418G>C | CA345969863 | APOB | c.13004C>G (p.Thr4335Arg) c.5870-3145C>G (n.5870-3145C>G) | |
| 2 | g.21002418G= | CA2493472974 | APOB | c.13004C= (p.Thr4335=) c.5870-3145C= (n.5870-3145C=) | |
| 2 | g.21002418G>T | CA345969865 | APOB | c.13004C>A (p.Thr4335Lys) c.5870-3145C>A (n.5870-3145C>A) | |
| 2 | g.21002419T>A | CA345969867 | APOB | c.13003A>T (p.Thr4335Ser) c.5870-3146A>T (n.5870-3146A>T) | |
| 2 | g.21002419T>C | CA345969869 | APOB | c.13003A>G (p.Thr4335Ala) c.5870-3146A>G (n.5870-3146A>G) | dbSNP gnomAD v4 |
| 2 | g.21002419T>G | CA345969870 | APOB | c.13003A>C (p.Thr4335Pro) c.5870-3146A>C (n.5870-3146A>C) | |
| 2 | g.21002419T= | CA2493472975 | APOB | c.13003A= (p.Thr4335=) c.5870-3146A= (n.5870-3146A=) | |
| 2 | g.21002420G>A | CA425341980 | APOB | c.13002C>T (p.Asn4334=) c.5870-3147C>T (n.5870-3147C>T) | dbSNP gnomAD v4 |
| 2 | g.21002420G>C | CA345969873 | APOB | c.13002C>G (p.Asn4334Lys) c.5870-3147C>G (n.5870-3147C>G) | |
| 2 | g.21002420G= | CA2493472976 | APOB | c.13002C= (p.Asn4334=) c.5870-3147C= (n.5870-3147C=) | |
| 2 | g.21002420G>T | CA345969875 | APOB | c.13002C>A (p.Asn4334Lys) c.5870-3147C>A (n.5870-3147C>A) | |
| 2 | g.21002421T>A | CA345969881 | APOB | c.13001A>T (p.Asn4334Ile) c.5870-3148A>T (n.5870-3148A>T) | |
| 2 | g.21002421T>C | CA345969879 | APOB | c.13001A>G (p.Asn4334Ser) c.5870-3148A>G (n.5870-3148A>G) | |
| 2 | g.21002421T>G | CA345969877 | APOB | c.13001A>C (p.Asn4334Thr) c.5870-3148A>C (n.5870-3148A>C) | |
| 2 | g.21002422T>A | CA345969883 | APOB | c.13000A>T (p.Asn4334Tyr) c.5870-3149A>T (n.5870-3149A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002422T>C | CA345969887 | APOB | c.13000A>G (p.Asn4334Asp) c.5870-3149A>G (n.5870-3149A>G) | |
| 2 | g.21002422T>G | CA345969885 | APOB | c.13000A>C (p.Asn4334His) c.5870-3149A>C (n.5870-3149A>C) | |
| 2 | g.21002422T= | CA2493472977 | APOB | c.13000A= (p.Asn4334=) c.5870-3149A= (n.5870-3149A=) | |
| 2 | g.21002423G>A | CA425341985 | APOB | c.12999C>T (p.Ile4333=) c.5870-3150C>T (n.5870-3150C>T) | |
| 2 | g.21002423G>C | CA345969888 | APOB | c.12999C>G (p.Ile4333Met) c.5870-3150C>G (n.5870-3150C>G) | |
| 2 | g.21002423G>T | CA425341988 | APOB | c.12999C>A (p.Ile4333=) c.5870-3150C>A (n.5870-3150C>A) | gnomAD v4 |
| 2 | g.21002424A>C | CA345969889 | APOB | c.12998T>G (p.Ile4333Ser) c.5870-3151T>G (n.5870-3151T>G) | |
| 2 | g.21002424A>G | CA345969890 | APOB | c.12998T>C (p.Ile4333Thr) c.5870-3151T>C (n.5870-3151T>C) | |
| 2 | g.21002424A>T | CA345969892 | APOB | c.12998T>A (p.Ile4333Asn) c.5870-3151T>A (n.5870-3151T>A) | |
| 2 | g.21002425T>A | CA345969894 | APOB | c.12997A>T (p.Ile4333Phe) c.5870-3152A>T (n.5870-3152A>T) | |
| 2 | g.21002425T>C | CA345969896 | APOB | c.12997A>G (p.Ile4333Val) c.5870-3152A>G (n.5870-3152A>G) | gnomAD v4 |
| 2 | g.21002425T>G | CA345969897 | APOB | c.12997A>C (p.Ile4333Leu) c.5870-3152A>C (n.5870-3152A>C) | |
| 2 | g.21002426C>A | CA345969899 | APOB | c.12996G>T (p.Glu4332Asp) c.5870-3153G>T (n.5870-3153G>T) |