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.21005063G>A | CA047425 | APOB | c.11788+17C>T (n.11788+17C>T) c.5869+5670C>T (n.5869+5670C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21005063G= | CA2493474235 | APOB | c.11788+17C= (n.11788+17C=) c.5869+5670C= (n.5869+5670C=) | |
| 2 | g.21005064G>A | CA047416 | APOB | c.11788+16C>T (n.11788+16C>T) c.5869+5669C>T (n.5869+5669C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005064G= | CA2493474236 | APOB | c.11788+16C= (n.11788+16C=) c.5869+5669C= (n.5869+5669C=) | |
| 2 | g.21005065C>T | CA2658074499 | APOB | c.11788+15G>A (n.11788+15G>A) c.5869+5668G>A (n.5869+5668G>A) | gnomAD v4 |
| 2 | g.21005066A>G | CA2658074500 | APOB | c.11788+14T>C (n.11788+14T>C) c.5869+5667T>C (n.5869+5667T>C) | gnomAD v4 |
| 2 | g.21005066_21005067delinsAG | CA2493474237 | APOB | c.11788+13_11788+14delinsCT (n.11788+13_11788+14delinsCT) c.5869+5666_5869+5667delinsCT (n.5869+5666_5869+5667delinsCT) | |
| 2 | g.21005068del | CA916487966 | APOB | c.11788+13del (n.11788+13del) c.5869+5666del (n.5869+5666del) | dbSNP gnomAD v4 |
| 2 | g.21005068G>A | CA2658074502 | APOB | c.11788+12C>T (n.11788+12C>T) c.5869+5665C>T (n.5869+5665C>T) | gnomAD v4 |
| 2 | g.21005068G>C | CA2658074503 | APOB | c.11788+12C>G (n.11788+12C>G) c.5869+5665C>G (n.5869+5665C>G) | gnomAD v4 |
| 2 | g.21005071A>G | CA2658074504 | APOB | c.11788+9T>C (n.11788+9T>C) c.5869+5662T>C (n.5869+5662T>C) | gnomAD v4 |
| 2 | g.21005073T>C | CA2576686486 | APOB | c.11788+7A>G (n.11788+7A>G) c.5869+5660A>G (n.5869+5660A>G) | |
| 2 | g.21005076T>C | CA047473 | APOB | c.11788+4A>G (n.11788+4A>G) c.5869+5657A>G (n.5869+5657A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005076T= | CA2493474238 | APOB | c.11788+4A= (n.11788+4A=) c.5869+5657A= (n.5869+5657A=) | |
| 2 | g.21005076_21005077insCTG | CA2698845612 | APOB | c.11788+3_11788+4insCAG (n.11788+3_11788+4insCAG) c.5869+5656_5869+5657insCAG (n.5869+5656_5869+5657insCAG) | dbSNP |
| 2 | g.21005078A>C | CA345977125 | APOB | c.11788+2T>G (n.11788+2T>G) c.5869+5655T>G (n.5869+5655T>G) | |
| 2 | g.21005078A>G | CA345977126 | APOB | c.11788+2T>C (n.11788+2T>C) c.5869+5655T>C (n.5869+5655T>C) | |
| 2 | g.21005078A>T | CA345977128 | APOB | c.11788+2T>A (n.11788+2T>A) c.5869+5655T>A (n.5869+5655T>A) | |
| 2 | g.21005079C>A | CA345977132 | APOB | c.11788+1G>T (n.11788+1G>T) c.5869+5654G>T (n.5869+5654G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005079C= | CA2493474239 | APOB | c.11788+1G= (n.11788+1G=) c.5869+5654G= (n.5869+5654G=) | |
| 2 | g.21005079C>G | CA345977135 | APOB | c.11788+1G>C (n.11788+1G>C) c.5869+5654G>C (n.5869+5654G>C) | |
| 2 | g.21005079C>T | CA345977139 | APOB | c.11788+1G>A (n.11788+1G>A) c.5869+5654G>A (n.5869+5654G>A) | |
| 2 | g.21005080C>A | CA345977146 | APOB | c.11788G>T (p.Val3930Phe) c.5869+5653G>T (n.5869+5653G>T) | |
| 2 | g.21005080C= | CA2493474240 | APOB | c.11788G= (p.Val3930=) c.5869+5653G= (n.5869+5653G=) | |
| 2 | g.21005080C>G | CA345977147 | APOB | c.11788G>C (p.Val3930Leu) c.5869+5653G>C (n.5869+5653G>C) | dbSNP |
| 2 | g.21005080C>T | CA345977144 | APOB | c.11788G>A (p.Val3930Ile) c.5869+5653G>A (n.5869+5653G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005081A= | CA2493474241 | APOB | c.11787T= (p.Asn3929=) c.5869+5652T= (n.5869+5652T=) | |
| 2 | g.21005081A>C | CA345977154 | APOB | c.11787T>G (p.Asn3929Lys) c.5869+5652T>G (n.5869+5652T>G) | COSMIC |
| 2 | g.21005081A>G | CA43491419 | APOB | c.11787T>C (p.Asn3929=) c.5869+5652T>C (n.5869+5652T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005081A>T | CA345977151 | APOB | c.11787T>A (p.Asn3929Lys) c.5869+5652T>A (n.5869+5652T>A) | dbSNP gnomAD v4 |
| 2 | g.21005082T>A | CA345977156 | APOB | c.11786A>T (p.Asn3929Ile) c.5869+5651A>T (n.5869+5651A>T) | |
| 2 | g.21005082T>C | CA047413 | APOB | c.11786A>G (p.Asn3929Ser) c.5869+5651A>G (n.5869+5651A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005082T>G | CA345977155 | APOB | c.11786A>C (p.Asn3929Thr) c.5869+5651A>C (n.5869+5651A>C) | |
| 2 | g.21005082T= | CA2493474242 | APOB | c.11786A= (p.Asn3929=) c.5869+5651A= (n.5869+5651A=) | |
| 2 | g.21005084del | CA2658074510 | APOB | c.11786del (p.Asn3929MetfsTer13) c.5869+5651del (n.5869+5651del) | gnomAD v4 |
| 2 | g.21005083T>A | CA345977159 | APOB | c.11785A>T (p.Asn3929Tyr) c.5869+5650A>T (n.5869+5650A>T) | |
| 2 | g.21005083T>C | CA345977162 | APOB | c.11785A>G (p.Asn3929Asp) c.5869+5650A>G (n.5869+5650A>G) | |
| 2 | g.21005083T>G | CA345977164 | APOB | c.11785A>C (p.Asn3929His) c.5869+5650A>C (n.5869+5650A>C) | |
| 2 | g.21005084T>A | CA425136011 | APOB | c.11784A>T (p.Leu3928=) c.5869+5649A>T (n.5869+5649A>T) | |
| 2 | g.21005084T>C | CA425136012 | APOB | c.11784A>G (p.Leu3928=) c.5869+5649A>G (n.5869+5649A>G) | |
| 2 | g.21005084T>G | CA425136013 | APOB | c.11784A>C (p.Leu3928=) c.5869+5649A>C (n.5869+5649A>C) | |
| 2 | g.21005085A= | CA2493474243 | APOB | c.11783T= (p.Leu3928=) c.5869+5648T= (n.5869+5648T=) | |
| 2 | g.21005085A>C | CA345977172 | APOB | c.11783T>G (p.Leu3928Arg) c.5869+5648T>G (n.5869+5648T>G) | |
| 2 | g.21005085A>G | CA345977184 | APOB | c.11783T>C (p.Leu3928Pro) c.5869+5648T>C (n.5869+5648T>C) | |
| 2 | g.21005085A>T | CA047397 | APOB | c.11783T>A (p.Leu3928Gln) c.5869+5648T>A (n.5869+5648T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21005086G>A | CA425136014 | APOB | c.11782C>T (p.Leu3928=) c.5869+5647C>T (n.5869+5647C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21005086G>C | CA345977190 | APOB | c.11782C>G (p.Leu3928Val) c.5869+5647C>G (n.5869+5647C>G) | |
| 2 | g.21005086G= | CA2493474244 | APOB | c.11782C= (p.Leu3928=) c.5869+5647C= (n.5869+5647C=) | |
| 2 | g.21005086G>T | CA047385 | APOB | c.11782C>A (p.Leu3928Ile) c.5869+5647C>A (n.5869+5647C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21005087T>A | CA345977200 | APOB | c.11781A>T (p.Glu3927Asp) c.5869+5646A>T (n.5869+5646A>T) | |
| 2 | g.21005087T>C | CA425136015 | APOB | c.11781A>G (p.Glu3927=) c.5869+5646A>G (n.5869+5646A>G) | |
| 2 | g.21005087T>G | CA345977203 | APOB | c.11781A>C (p.Glu3927Asp) c.5869+5646A>C (n.5869+5646A>C) | |
| 2 | g.21005088T>A | CA345977209 | APOB | c.11780A>T (p.Glu3927Val) c.5869+5645A>T (n.5869+5645A>T) | |
| 2 | g.21005088T>C | CA345977205 | APOB | c.11780A>G (p.Glu3927Gly) c.5869+5645A>G (n.5869+5645A>G) | |
| 2 | g.21005088T>G | CA345977207 | APOB | c.11780A>C (p.Glu3927Ala) c.5869+5645A>C (n.5869+5645A>C) | |
| 2 | g.21005089C>A | CA345977216 | APOB | c.11779G>T (p.Glu3927Ter) c.5869+5644G>T (n.5869+5644G>T) | |
| 2 | g.21005089C>G | CA345977222 | APOB | c.11779G>C (p.Glu3927Gln) c.5869+5644G>C (n.5869+5644G>C) | |
| 2 | g.21005089C>T | CA345977225 | APOB | c.11779G>A (p.Glu3927Lys) c.5869+5644G>A (n.5869+5644G>A) | COSMIC |
| 2 | g.21005090A>C | CA345977231 | APOB | c.11778T>G (p.Tyr3926Ter) c.5869+5643T>G (n.5869+5643T>G) | |
| 2 | g.21005090A>G | CA425136016 | APOB | c.11778T>C (p.Tyr3926=) c.5869+5643T>C (n.5869+5643T>C) | |
| 2 | g.21005090A>T | CA345977237 | APOB | c.11778T>A (p.Tyr3926Ter) c.5869+5643T>A (n.5869+5643T>A) | |
| 2 | g.21005091T>A | CA345977240 | APOB | c.11777A>T (p.Tyr3926Phe) c.5869+5642A>T (n.5869+5642A>T) | |
| 2 | g.21005091T>C | CA047364 | APOB | c.11777A>G (p.Tyr3926Cys) c.5869+5642A>G (n.5869+5642A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005091T>G | CA345977245 | APOB | c.11777A>C (p.Tyr3926Ser) c.5869+5642A>C (n.5869+5642A>C) | |
| 2 | g.21005091T= | CA2493474245 | APOB | c.11777A= (p.Tyr3926=) c.5869+5642A= (n.5869+5642A=) | |
| 2 | g.21005092A= | CA2493474246 | APOB | c.11776T= (p.Tyr3926=) c.5869+5641T= (n.5869+5641T=) | |
| 2 | g.21005092A>C | CA345977260 | APOB | c.11776T>G (p.Tyr3926Asp) c.5869+5641T>G (n.5869+5641T>G) | |
| 2 | g.21005092A>G | CA345977262 | APOB | c.11776T>C (p.Tyr3926His) c.5869+5641T>C (n.5869+5641T>C) | dbSNP gnomAD v4 |
| 2 | g.21005092A>T | CA345977263 | APOB | c.11776T>A (p.Tyr3926Asn) c.5869+5641T>A (n.5869+5641T>A) | |
| 2 | g.21005093T>A | CA345977280 | APOB | c.11775A>T (p.Glu3925Asp) c.5869+5640A>T (n.5869+5640A>T) | |
| 2 | g.21005093T>C | CA425136017 | APOB | c.11775A>G (p.Glu3925=) c.5869+5640A>G (n.5869+5640A>G) | dbSNP gnomAD v4 |
| 2 | g.21005093T>G | CA345977272 | APOB | c.11775A>C (p.Glu3925Asp) c.5869+5640A>C (n.5869+5640A>C) | |
| 2 | g.21005093T= | CA2493474247 | APOB | c.11775A= (p.Glu3925=) c.5869+5640A= (n.5869+5640A=) | |
| 2 | g.21005094T>A | CA345977296 | APOB | c.11774A>T (p.Glu3925Val) c.5869+5639A>T (n.5869+5639A>T) | |
| 2 | g.21005094T>C | CA345977298 | APOB | c.11774A>G (p.Glu3925Gly) c.5869+5639A>G (n.5869+5639A>G) | |
| 2 | g.21005094T>G | CA345977300 | APOB | c.11774A>C (p.Glu3925Ala) c.5869+5639A>C (n.5869+5639A>C) | |
| 2 | g.21005095C>A | CA345977304 | APOB | c.11773G>T (p.Glu3925Ter) c.5869+5638G>T (n.5869+5638G>T) | |
| 2 | g.21005095C>G | CA345977306 | APOB | c.11773G>C (p.Glu3925Gln) c.5869+5638G>C (n.5869+5638G>C) | |
| 2 | g.21005095C>T | CA345977309 | APOB | c.11773G>A (p.Glu3925Lys) c.5869+5638G>A (n.5869+5638G>A) | |
| 2 | g.21005096T>A | CA425136020 | APOB | c.11772A>T (p.Leu3924=) c.5869+5637A>T (n.5869+5637A>T) | |
| 2 | g.21005096T>C | CA425136019 | APOB | c.11772A>G (p.Leu3924=) c.5869+5637A>G (n.5869+5637A>G) | dbSNP gnomAD v4 |
| 2 | g.21005096T>G | CA425136021 | APOB | c.11772A>C (p.Leu3924=) c.5869+5637A>C (n.5869+5637A>C) | |
| 2 | g.21005096T= | CA2493474248 | APOB | c.11772A= (p.Leu3924=) c.5869+5637A= (n.5869+5637A=) | |
| 2 | g.21005097A>C | CA345977314 | APOB | c.11771T>G (p.Leu3924Arg) c.5869+5636T>G (n.5869+5636T>G) | |
| 2 | g.21005097A>G | CA345977311 | APOB | c.11771T>C (p.Leu3924Pro) c.5869+5636T>C (n.5869+5636T>C) | gnomAD v4 |
| 2 | g.21005097A>T | CA345977313 | APOB | c.11771T>A (p.Leu3924Gln) c.5869+5636T>A (n.5869+5636T>A) | |
| 2 | g.21005098G>A | CA425136022 | APOB | c.11770C>T (p.Leu3924=) c.5869+5635C>T (n.5869+5635C>T) | |
| 2 | g.21005098G>C | CA345977316 | APOB | c.11770C>G (p.Leu3924Val) c.5869+5635C>G (n.5869+5635C>G) | ClinVar gnomAD v4 |
| 2 | g.21005098G>T | CA345977319 | APOB | c.11770C>A (p.Leu3924Ile) c.5869+5635C>A (n.5869+5635C>A) | |
| 2 | g.21005099G>A | CA047352 | APOB | c.11769C>T (p.Phe3923=) c.5869+5634C>T (n.5869+5634C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.21005099G>C | CA345977331 | APOB | c.11769C>G (p.Phe3923Leu) c.5869+5634C>G (n.5869+5634C>G) | |
| 2 | g.21005099G= | CA2493474249 | APOB | c.11769C= (p.Phe3923=) c.5869+5634C= (n.5869+5634C=) | |
| 2 | g.21005099G>T | CA345977334 | APOB | c.11769C>A (p.Phe3923Leu) c.5869+5634C>A (n.5869+5634C>A) | dbSNP |
| 2 | g.21005100A>C | CA345977338 | APOB | c.11768T>G (p.Phe3923Cys) c.5869+5633T>G (n.5869+5633T>G) | gnomAD v4 |
| 2 | g.21005100A>G | CA345977342 | APOB | c.11768T>C (p.Phe3923Ser) c.5869+5633T>C (n.5869+5633T>C) | |
| 2 | g.21005100A>T | CA345977339 | APOB | c.11768T>A (p.Phe3923Tyr) c.5869+5633T>A (n.5869+5633T>A) | |
| 2 | g.21005101A= | CA2493474250 | APOB | c.11767T= (p.Phe3923=) c.5869+5632T= (n.5869+5632T=) | |
| 2 | g.21005101A>C | CA345977346 | APOB | c.11767T>G (p.Phe3923Val) c.5869+5632T>G (n.5869+5632T>G) | |
| 2 | g.21005101A>G | CA345977349 | APOB | c.11767T>C (p.Phe3923Leu) c.5869+5632T>C (n.5869+5632T>C) | |
| 2 | g.21005101A>T | CA345977352 | APOB | c.11767T>A (p.Phe3923Ile) c.5869+5632T>A (n.5869+5632T>A) | dbSNP |
| 2 | g.21005102C>A | CA345977354 | APOB | c.11766G>T (p.Gln3922His) c.5869+5631G>T (n.5869+5631G>T) | |
| 2 | g.21005102C>G | CA345977356 | APOB | c.11766G>C (p.Gln3922His) c.5869+5631G>C (n.5869+5631G>C) | |
| 2 | g.21005102C>T | CA425136023 | APOB | c.11766G>A (p.Gln3922=) c.5869+5631G>A (n.5869+5631G>A) | |
| 2 | g.21005103T>A | CA345977361 | APOB | c.11765A>T (p.Gln3922Leu) c.5869+5630A>T (n.5869+5630A>T) | |
| 2 | g.21005103T>C | CA345977364 | APOB | c.11765A>G (p.Gln3922Arg) c.5869+5630A>G (n.5869+5630A>G) | |
| 2 | g.21005103T>G | CA345977365 | APOB | c.11765A>C (p.Gln3922Pro) c.5869+5630A>C (n.5869+5630A>C) | |
| 2 | g.21005104G>A | CA345977374 | APOB | c.11764C>T (p.Gln3922Ter) c.5869+5629C>T (n.5869+5629C>T) | ClinVar dbSNP |
| 2 | g.21005104G>C | CA047342 | APOB | c.11764C>G (p.Gln3922Glu) c.5869+5629C>G (n.5869+5629C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005104G= | CA2493474251 | APOB | c.11764C= (p.Gln3922=) c.5869+5629C= (n.5869+5629C=) | |
| 2 | g.21005104G>T | CA345977377 | APOB | c.11764C>A (p.Gln3922Lys) c.5869+5629C>A (n.5869+5629C>A) | |
| 2 | g.21005105T>A | CA425136024 | APOB | c.11763A>T (p.Val3921=) c.5869+5628A>T (n.5869+5628A>T) | |
| 2 | g.21005105T>C | CA425136025 | APOB | c.11763A>G (p.Val3921=) c.5869+5628A>G (n.5869+5628A>G) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21005105T>G | CA425136026 | APOB | c.11763A>C (p.Val3921=) c.5869+5628A>C (n.5869+5628A>C) | |
| 2 | g.21005105T= | CA2493474252 | APOB | c.11763A= (p.Val3921=) c.5869+5628A= (n.5869+5628A=) | |
| 2 | g.21005106A>C | CA345977381 | APOB | c.11762T>G (p.Val3921Gly) c.5869+5627T>G (n.5869+5627T>G) | |
| 2 | g.21005106A>G | CA345977384 | APOB | c.11762T>C (p.Val3921Ala) c.5869+5627T>C (n.5869+5627T>C) | |
| 2 | g.21005106A>T | CA345977380 | APOB | c.11762T>A (p.Val3921Glu) c.5869+5627T>A (n.5869+5627T>A) | |
| 2 | g.21005107C>A | CA345977385 | APOB | c.11761G>T (p.Val3921Leu) c.5869+5626G>T (n.5869+5626G>T) | dbSNP gnomAD v4 |
| 2 | g.21005107C= | CA2493474253 | APOB | c.11761G= (p.Val3921=) c.5869+5626G= (n.5869+5626G=) | |
| 2 | g.21005107C>G | CA345977386 | APOB | c.11761G>C (p.Val3921Leu) c.5869+5626G>C (n.5869+5626G>C) | |
| 2 | g.21005107C>T | CA047332 | APOB | c.11761G>A (p.Val3921Ile) c.5869+5626G>A (n.5869+5626G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21005107_21005110del | CA645535044 | APOB | c.11758_11761del (p.Thr3920TyrfsTer4) c.5869+5623_5869+5626del (n.5869+5623_5869+5626del) | COSMIC |
| 2 | g.21005108G>A | CA047317 | APOB | c.11760C>T (p.Thr3920=) c.5869+5625C>T (n.5869+5625C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005108G>C | CA425136027 | APOB | c.11760C>G (p.Thr3920=) c.5869+5625C>G (n.5869+5625C>G) | |
| 2 | g.21005108G= | CA2493474254 | APOB | c.11760C= (p.Thr3920=) c.5869+5625C= (n.5869+5625C=) | |
| 2 | g.21005108G>T | CA425136028 | APOB | c.11760C>A (p.Thr3920=) c.5869+5625C>A (n.5869+5625C>A) | |
| 2 | g.21005109G>A | CA345977394 | APOB | c.11759C>T (p.Thr3920Ile) c.5869+5624C>T (n.5869+5624C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21005109G>C | CA345977396 | APOB | c.11759C>G (p.Thr3920Ser) c.5869+5624C>G (n.5869+5624C>G) | |
| 2 | g.21005109G= | CA2493474255 | APOB | c.11759C= (p.Thr3920=) c.5869+5624C= (n.5869+5624C=) | |
| 2 | g.21005109G>T | CA345977397 | APOB | c.11759C>A (p.Thr3920Asn) c.5869+5624C>A (n.5869+5624C>A) | |
| 2 | g.21005110T>A | CA345977399 | APOB | c.11758A>T (p.Thr3920Ser) c.5869+5623A>T (n.5869+5623A>T) | |
| 2 | g.21005110T>C | CA345977400 | APOB | c.11758A>G (p.Thr3920Ala) c.5869+5623A>G (n.5869+5623A>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.21005110T>G | CA345977401 | APOB | c.11758A>C (p.Thr3920Pro) c.5869+5623A>C (n.5869+5623A>C) | |
| 2 | g.21005110T= | CA2493474256 | APOB | c.11758A= (p.Thr3920=) c.5869+5623A= (n.5869+5623A=) | |
| 2 | g.21005111T>A | CA425136031 | APOB | c.11757A>T (p.Ser3919=) c.5869+5622A>T (n.5869+5622A>T) | |
| 2 | g.21005111T>C | CA425136029 | APOB | c.11757A>G (p.Ser3919=) c.5869+5622A>G (n.5869+5622A>G) | |
| 2 | g.21005111T>G | CA425136030 | APOB | c.11757A>C (p.Ser3919=) c.5869+5622A>C (n.5869+5622A>C) | |
| 2 | g.21005112G>A | CA345977402 | APOB | c.11756C>T (p.Ser3919Leu) c.5869+5621C>T (n.5869+5621C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005112G>C | CA345977403 | APOB | c.11756C>G (p.Ser3919Ter) c.5869+5621C>G (n.5869+5621C>G) | |
| 2 | g.21005112G= | CA2493474257 | APOB | c.11756C= (p.Ser3919=) c.5869+5621C= (n.5869+5621C=) | |
| 2 | g.21005112G>T | CA345977404 | APOB | c.11756C>A (p.Ser3919Ter) c.5869+5621C>A (n.5869+5621C>A) | |
| 2 | g.21005113A>C | CA345977413 | APOB | c.11755T>G (p.Ser3919Ala) c.5869+5620T>G (n.5869+5620T>G) | |
| 2 | g.21005113A>G | CA345977407 | APOB | c.11755T>C (p.Ser3919Pro) c.5869+5620T>C (n.5869+5620T>C) | |
| 2 | g.21005113A>T | CA345977406 | APOB | c.11755T>A (p.Ser3919Thr) c.5869+5620T>A (n.5869+5620T>A) | |
| 2 | g.21005114G>A | CA425136032 | APOB | c.11754C>T (p.Ser3918=) c.5869+5619C>T (n.5869+5619C>T) | |
| 2 | g.21005114G>C | CA345977415 | APOB | c.11754C>G (p.Ser3918Arg) c.5869+5619C>G (n.5869+5619C>G) | |
| 2 | g.21005114G>T | CA345977420 | APOB | c.11754C>A (p.Ser3918Arg) c.5869+5619C>A (n.5869+5619C>A) | |
| 2 | g.21005115C>A | CA345977423 | APOB | c.11753G>T (p.Ser3918Ile) c.5869+5618G>T (n.5869+5618G>T) | |
| 2 | g.21005115C>G | CA345977428 | APOB | c.11753G>C (p.Ser3918Thr) c.5869+5618G>C (n.5869+5618G>C) | |
| 2 | g.21005115C>T | CA345977429 | APOB | c.11753G>A (p.Ser3918Asn) c.5869+5618G>A (n.5869+5618G>A) | |
| 2 | g.21005116T>A | CA345977431 | APOB | c.11752A>T (p.Ser3918Cys) c.5869+5617A>T (n.5869+5617A>T) | |
| 2 | g.21005116T>C | CA345977433 | APOB | c.11752A>G (p.Ser3918Gly) c.5869+5617A>G (n.5869+5617A>G) | |
| 2 | g.21005116T>G | CA345977434 | APOB | c.11752A>C (p.Ser3918Arg) c.5869+5617A>C (n.5869+5617A>C) | |
| 2 | g.21005117G>A | CA047307 | APOB | c.11751C>T (p.Cys3917=) c.5869+5616C>T (n.5869+5616C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21005117G>C | CA345977435 | APOB | c.11751C>G (p.Cys3917Trp) c.5869+5616C>G (n.5869+5616C>G) | |
| 2 | g.21005117G= | CA2493474258 | APOB | c.11751C= (p.Cys3917=) c.5869+5616C= (n.5869+5616C=) | |
| 2 | g.21005117G>T | CA345977436 | APOB | c.11751C>A (p.Cys3917Ter) c.5869+5616C>A (n.5869+5616C>A) | |
| 2 | g.21005118C>A | CA345977438 | APOB | c.11750G>T (p.Cys3917Phe) c.5869+5615G>T (n.5869+5615G>T) | gnomAD v4 |
| 2 | g.21005118C>G | CA345977440 | APOB | c.11750G>C (p.Cys3917Ser) c.5869+5615G>C (n.5869+5615G>C) | |
| 2 | g.21005118C>T | CA345977441 | APOB | c.11750G>A (p.Cys3917Tyr) c.5869+5615G>A (n.5869+5615G>A) | gnomAD v4 |
| 2 | g.21005119A= | CA2493474259 | APOB | c.11749T= (p.Cys3917=) c.5869+5614T= (n.5869+5614T=) | |
| 2 | g.21005119A>C | CA345977445 | APOB | c.11749T>G (p.Cys3917Gly) c.5869+5614T>G (n.5869+5614T>G) | |
| 2 | g.21005119A>G | CA345977447 | APOB | c.11749T>C (p.Cys3917Arg) c.5869+5614T>C (n.5869+5614T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21005119A>T | CA345977443 | APOB | c.11749T>A (p.Cys3917Ser) c.5869+5614T>A (n.5869+5614T>A) | ClinVar gnomAD v4 |
| 2 | g.21005120del | CA2658074570 | APOB | c.11748del (p.Cys3917AlafsTer8) c.5869+5613del (n.5869+5613del) | gnomAD v4 |
| 2 | g.21005120T>A | CA425136034 | APOB | c.11748A>T (p.Thr3916=) c.5869+5613A>T (n.5869+5613A>T) | |
| 2 | g.21005120T>C | CA425136035 | APOB | c.11748A>G (p.Thr3916=) c.5869+5613A>G (n.5869+5613A>G) | |
| 2 | g.21005120T>G | CA425136036 | APOB | c.11748A>C (p.Thr3916=) c.5869+5613A>C (n.5869+5613A>C) | |
| 2 | g.21005121G>A | CA345977448 | APOB | c.11747C>T (p.Thr3916Ile) c.5869+5612C>T (n.5869+5612C>T) | |
| 2 | g.21005121G>C | CA345977450 | APOB | c.11747C>G (p.Thr3916Arg) c.5869+5612C>G (n.5869+5612C>G) | |
| 2 | g.21005121G>T | CA345977452 | APOB | c.11747C>A (p.Thr3916Lys) c.5869+5612C>A (n.5869+5612C>A) | |
| 2 | g.21005122T>A | CA345977453 | APOB | c.11746A>T (p.Thr3916Ser) c.5869+5611A>T (n.5869+5611A>T) | |
| 2 | g.21005122T>C | CA345977455 | APOB | c.11746A>G (p.Thr3916Ala) c.5869+5611A>G (n.5869+5611A>G) | gnomAD v4 |
| 2 | g.21005122T>G | CA345977456 | APOB | c.11746A>C (p.Thr3916Pro) c.5869+5611A>C (n.5869+5611A>C) | dbSNP |
| 2 | g.21005122T= | CA2493474260 | APOB | c.11746A= (p.Thr3916=) c.5869+5611A= (n.5869+5611A=) | |
| 2 | g.21005123G>A | CA425136037 | APOB | c.11745C>T (p.Ser3915=) c.5869+5610C>T (n.5869+5610C>T) | dbSNP |
| 2 | g.21005123G>C | CA425136038 | APOB | c.11745C>G (p.Ser3915=) c.5869+5610C>G (n.5869+5610C>G) | |
| 2 | g.21005123G= | CA2493474261 | APOB | c.11745C= (p.Ser3915=) c.5869+5610C= (n.5869+5610C=) | |
| 2 | g.21005123G>T | CA425136039 | APOB | c.11745C>A (p.Ser3915=) c.5869+5610C>A (n.5869+5610C>A) | |
| 2 | g.21005124G>A | CA047281 | APOB | c.11744C>T (p.Ser3915Phe) c.5869+5609C>T (n.5869+5609C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21005124G>C | CA047261 | APOB | c.11744C>G (p.Ser3915Cys) c.5869+5609C>G (n.5869+5609C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005124G= | CA2493474262 | APOB | c.11744C= (p.Ser3915=) c.5869+5609C= (n.5869+5609C=) | |
| 2 | g.21005124G>T | CA345977460 | APOB | c.11744C>A (p.Ser3915Tyr) c.5869+5609C>A (n.5869+5609C>A) | gnomAD v4 |
| 2 | g.21005125A>C | CA345977464 | APOB | c.11743T>G (p.Ser3915Ala) c.5869+5608T>G (n.5869+5608T>G) | |
| 2 | g.21005125A>G | CA345977465 | APOB | c.11743T>C (p.Ser3915Pro) c.5869+5608T>C (n.5869+5608T>C) | |
| 2 | g.21005125A>T | CA345977467 | APOB | c.11743T>A (p.Ser3915Thr) c.5869+5608T>A (n.5869+5608T>A) | |
| 2 | g.21005126A>C | CA345977470 | APOB | c.11742T>G (p.Asp3914Glu) c.5869+5607T>G (n.5869+5607T>G) | |
| 2 | g.21005126A>G | CA425136040 | APOB | c.11742T>C (p.Asp3914=) c.5869+5607T>C (n.5869+5607T>C) | |
| 2 | g.21005126A>T | CA345977472 | APOB | c.11742T>A (p.Asp3914Glu) c.5869+5607T>A (n.5869+5607T>A) | |
| 2 | g.21005126_21005127insATTTCTTACCATTTAGTTCATAT | CA2749099409 | APOB | c.11741_11742insATATGAACTAAATGGTAAGAAAT (p.Asp3914GlufsTer19) c.5869+5606_5869+5607insATATGAACTAAATGGTAAGAAAT (n.5869+5606_5869+5607insATATGAACTAAATGGTAAGAAAT) | |
| 2 | g.21005127T>A | CA345977474 | APOB | c.11741A>T (p.Asp3914Val) c.5869+5606A>T (n.5869+5606A>T) | |
| 2 | g.21005127T>C | CA345977476 | APOB | c.11741A>G (p.Asp3914Gly) c.5869+5606A>G (n.5869+5606A>G) | |
| 2 | g.21005127T>G | CA345977475 | APOB | c.11741A>C (p.Asp3914Ala) c.5869+5606A>C (n.5869+5606A>C) | |
| 2 | g.21005128C>A | CA345977477 | APOB | c.11740G>T (p.Asp3914Tyr) c.5869+5605G>T (n.5869+5605G>T) | dbSNP |
| 2 | g.21005128C= | CA2493474263 | APOB | c.11740G= (p.Asp3914=) c.5869+5605G= (n.5869+5605G=) | |
| 2 | g.21005128C>G | CA047246 | APOB | c.11740G>C (p.Asp3914His) c.5869+5605G>C (n.5869+5605G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21005128C>T | CA345977481 | APOB | c.11740G>A (p.Asp3914Asn) c.5869+5605G>A (n.5869+5605G>A) | |
| 2 | g.21005129C>A | CA425136041 | APOB | c.11739G>T (p.Leu3913=) c.5869+5604G>T (n.5869+5604G>T) | |
| 2 | g.21005129C>G | CA425136042 | APOB | c.11739G>C (p.Leu3913=) c.5869+5604G>C (n.5869+5604G>C) | COSMIC |
| 2 | g.21005129C>T | CA425136043 | APOB | c.11739G>A (p.Leu3913=) c.5869+5604G>A (n.5869+5604G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005130A>C | CA345977483 | APOB | c.11738T>G (p.Leu3913Arg) c.5869+5603T>G (n.5869+5603T>G) | gnomAD v4 |
| 2 | g.21005130A>G | CA345977485 | APOB | c.11738T>C (p.Leu3913Pro) c.5869+5603T>C (n.5869+5603T>C) | |
| 2 | g.21005130A>T | CA345977487 | APOB | c.11738T>A (p.Leu3913Gln) c.5869+5603T>A (n.5869+5603T>A) | |
| 2 | g.21005130_21005131delinsAG | CA2493474264 | APOB | c.11737_11738delinsCT (p.Leu3913=) c.5869+5602_5869+5603delinsCT (n.5869+5602_5869+5603delinsCT) | |
| 2 | g.21005131G>A | CA425136044 | APOB | c.11737C>T (p.Leu3913=) c.5869+5602C>T (n.5869+5602C>T) | |
| 2 | g.21005131G>C | CA345977489 | APOB | c.11737C>G (p.Leu3913Val) c.5869+5602C>G (n.5869+5602C>G) | |
| 2 | g.21005131G>T | CA345977491 | APOB | c.11737C>A (p.Leu3913Met) c.5869+5602C>A (n.5869+5602C>A) | |
| 2 | g.21005132del | CA047232 | APOB | c.11737del (p.Leu3913TrpfsTer12) c.5869+5602del (n.5869+5602del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21005132G>A | CA425136047 | APOB | c.11736C>T (p.Val3912=) c.5869+5601C>T (n.5869+5601C>T) | |
| 2 | g.21005132G>C | CA425136045 | APOB | c.11736C>G (p.Val3912=) c.5869+5601C>G (n.5869+5601C>G) | |
| 2 | g.21005132G>T | CA425136046 | APOB | c.11736C>A (p.Val3912=) c.5869+5601C>A (n.5869+5601C>A) | ClinVar gnomAD v4 |
| 2 | g.21005133A>C | CA345977494 | APOB | c.11735T>G (p.Val3912Gly) c.5869+5600T>G (n.5869+5600T>G) | |
| 2 | g.21005133A>G | CA345977496 | APOB | c.11735T>C (p.Val3912Ala) c.5869+5600T>C (n.5869+5600T>C) | |
| 2 | g.21005133A>T | CA345977498 | APOB | c.11735T>A (p.Val3912Asp) c.5869+5600T>A (n.5869+5600T>A) | gnomAD v4 |
| 2 | g.21005133_21005134insTT | CA2576686487 | APOB | c.11734_11735insAA (p.Val3912GlufsTer14) c.5869+5599_5869+5600insAA (n.5869+5599_5869+5600insAA) | |
| 2 | g.21005134C>A | CA345977500 | APOB | c.11734G>T (p.Val3912Phe) c.5869+5599G>T (n.5869+5599G>T) | |
| 2 | g.21005134C= | CA2493474265 | APOB | c.11734G= (p.Val3912=) c.5869+5599G= (n.5869+5599G=) | |
| 2 | g.21005134C>G | CA345977501 | APOB | c.11734G>C (p.Val3912Leu) c.5869+5599G>C (n.5869+5599G>C) | gnomAD v4 |
| 2 | g.21005134C>T | CA047218 | APOB | c.11734G>A (p.Val3912Ile) c.5869+5599G>A (n.5869+5599G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21005135T>A | CA425136048 | APOB | c.11733A>T (p.Thr3911=) c.5869+5598A>T (n.5869+5598A>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21005135T>C | CA425136049 | APOB | c.11733A>G (p.Thr3911=) c.5869+5598A>G (n.5869+5598A>G) | gnomAD v4 |
| 2 | g.21005135T>G | CA425136050 | APOB | c.11733A>C (p.Thr3911=) c.5869+5598A>C (n.5869+5598A>C) | |
| 2 | g.21005135T= | CA2493474266 | APOB | c.11733A= (p.Thr3911=) c.5869+5598A= (n.5869+5598A=) | |
| 2 | g.21005136G>A | CA345977504 | APOB | c.11732C>T (p.Thr3911Ile) c.5869+5597C>T (n.5869+5597C>T) | gnomAD v4 |
| 2 | g.21005136G>C | CA345977502 | APOB | c.11732C>G (p.Thr3911Arg) c.5869+5597C>G (n.5869+5597C>G) | dbSNP |
| 2 | g.21005136G= | CA2493474267 | APOB | c.11732C= (p.Thr3911=) c.5869+5597C= (n.5869+5597C=) | |
| 2 | g.21005136G>T | CA345977506 | APOB | c.11732C>A (p.Thr3911Lys) c.5869+5597C>A (n.5869+5597C>A) | |
| 2 | g.21005137T>A | CA345977508 | APOB | c.11731A>T (p.Thr3911Ser) c.5869+5596A>T (n.5869+5596A>T) | |
| 2 | g.21005137T>C | CA345977512 | APOB | c.11731A>G (p.Thr3911Ala) c.5869+5596A>G (n.5869+5596A>G) | |
| 2 | g.21005137T>G | CA345977510 | APOB | c.11731A>C (p.Thr3911Pro) c.5869+5596A>C (n.5869+5596A>C) | |
| 2 | g.21005138T>A | CA345977515 | APOB | c.11730A>T (p.Glu3910Asp) c.5869+5595A>T (n.5869+5595A>T) | gnomAD v4 |
| 2 | g.21005138T>C | CA425136051 | APOB | c.11730A>G (p.Glu3910=) c.5869+5595A>G (n.5869+5595A>G) | |
| 2 | g.21005138T>G | CA345977516 | APOB | c.11730A>C (p.Glu3910Asp) c.5869+5595A>C (n.5869+5595A>C) | |
| 2 | g.21005139T>A | CA345977519 | APOB | c.11729A>T (p.Glu3910Val) c.5869+5594A>T (n.5869+5594A>T) | |
| 2 | g.21005139T>C | CA345977521 | APOB | c.11729A>G (p.Glu3910Gly) c.5869+5594A>G (n.5869+5594A>G) | |
| 2 | g.21005139T>G | CA345977522 | APOB | c.11729A>C (p.Glu3910Ala) c.5869+5594A>C (n.5869+5594A>C) | |
| 2 | g.21005139_21005142delinsTCAA | CA2493474268 | APOB | c.11726_11729delinsTTGA (p.Val3909=) c.5869+5591_5869+5594delinsTTGA (n.5869+5591_5869+5594delinsTTGA) | |
| 2 | g.21005140C>A | CA345977524 | APOB | c.11728G>T (p.Glu3910Ter) c.5869+5593G>T (n.5869+5593G>T) | gnomAD v4 COSMIC |
| 2 | g.21005140C>G | CA345977526 | APOB | c.11728G>C (p.Glu3910Gln) c.5869+5593G>C (n.5869+5593G>C) | gnomAD v4 |
| 2 | g.21005140C>T | CA345977528 | APOB | c.11728G>A (p.Glu3910Lys) c.5869+5593G>A (n.5869+5593G>A) | gnomAD v4 COSMIC |
| 2 | g.21005142_21005144del | CA530863358 | APOB | c.11726_11728del (p.Val3909del) c.5869+5591_5869+5593del (n.5869+5591_5869+5593del) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21005141A>C | CA425136052 | APOB | c.11727T>G (p.Val3909=) c.5869+5592T>G (n.5869+5592T>G) | |
| 2 | g.21005141A>G | CA425136053 | APOB | c.11727T>C (p.Val3909=) c.5869+5592T>C (n.5869+5592T>C) | |
| 2 | g.21005141A>T | CA425136054 | APOB | c.11727T>A (p.Val3909=) c.5869+5592T>A (n.5869+5592T>A) | |
| 2 | g.21005142A>C | CA345977530 | APOB | c.11726T>G (p.Val3909Gly) c.5869+5591T>G (n.5869+5591T>G) | |
| 2 | g.21005142A>G | CA345977532 | APOB | c.11726T>C (p.Val3909Ala) c.5869+5591T>C (n.5869+5591T>C) | |
| 2 | g.21005142A>T | CA345977534 | APOB | c.11726T>A (p.Val3909Asp) c.5869+5591T>A (n.5869+5591T>A) | |
| 2 | g.21005143C>A | CA345977540 | APOB | c.11725G>T (p.Val3909Phe) c.5869+5590G>T (n.5869+5590G>T) | |
| 2 | g.21005143C= | CA2493474269 | APOB | c.11725G= (p.Val3909=) c.5869+5590G= (n.5869+5590G=) | |
| 2 | g.21005143C>G | CA345977537 | APOB | c.11725G>C (p.Val3909Leu) c.5869+5590G>C (n.5869+5590G>C) | |
| 2 | g.21005143C>T | CA345977538 | APOB | c.11725G>A (p.Val3909Ile) c.5869+5590G>A (n.5869+5590G>A) | dbSNP |
| 2 | g.21005144A>C | CA345977543 | APOB | c.11724T>G (p.Tyr3908Ter) c.5869+5589T>G (n.5869+5589T>G) | |
| 2 | g.21005144A>G | CA425136055 | APOB | c.11724T>C (p.Tyr3908=) c.5869+5589T>C (n.5869+5589T>C) | |
| 2 | g.21005144A>T | CA345977544 | APOB | c.11724T>A (p.Tyr3908Ter) c.5869+5589T>A (n.5869+5589T>A) | |
| 2 | g.21005145_21005146del | CA2698845806 | APOB | c.11723_11724del (p.Tyr3908CysfsTer2) c.5869+5588_5869+5589del (n.5869+5588_5869+5589del) | dbSNP |
| 2 | g.21005145T>A | CA345977546 | APOB | c.11723A>T (p.Tyr3908Phe) c.5869+5588A>T (n.5869+5588A>T) | |
| 2 | g.21005145T>C | CA345977548 | APOB | c.11723A>G (p.Tyr3908Cys) c.5869+5588A>G (n.5869+5588A>G) | |
| 2 | g.21005145T>G | CA345977550 | APOB | c.11723A>C (p.Tyr3908Ser) c.5869+5588A>C (n.5869+5588A>C) | |
| 2 | g.21005146A= | CA2493474270 | APOB | c.11722T= (p.Tyr3908=) c.5869+5587T= (n.5869+5587T=) | |
| 2 | g.21005146A>C | CA345977552 | APOB | c.11722T>G (p.Tyr3908Asp) c.5869+5587T>G (n.5869+5587T>G) | gnomAD v4 |
| 2 | g.21005146A>G | CA43491494 | APOB | c.11722T>C (p.Tyr3908His) c.5869+5587T>C (n.5869+5587T>C) | dbSNP |
| 2 | g.21005146A>T | CA345977555 | APOB | c.11722T>A (p.Tyr3908Asn) c.5869+5587T>A (n.5869+5587T>A) | |
| 2 | g.21005147A>C | CA345977557 | APOB | c.11721T>G (p.Asp3907Glu) c.5869+5586T>G (n.5869+5586T>G) | |
| 2 | g.21005147A>G | CA425136056 | APOB | c.11721T>C (p.Asp3907=) c.5869+5586T>C (n.5869+5586T>C) | COSMIC |
| 2 | g.21005147A>T | CA345977558 | APOB | c.11721T>A (p.Asp3907Glu) c.5869+5586T>A (n.5869+5586T>A) | |
| 2 | g.21005148T>A | CA345977562 | APOB | c.11720A>T (p.Asp3907Val) c.5869+5585A>T (n.5869+5585A>T) | |
| 2 | g.21005148T>C | CA047187 | APOB | c.11720A>G (p.Asp3907Gly) c.5869+5585A>G (n.5869+5585A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005148T>G | CA345977560 | APOB | c.11720A>C (p.Asp3907Ala) c.5869+5585A>C (n.5869+5585A>C) | |
| 2 | g.21005148T= | CA2493474271 | APOB | c.11720A= (p.Asp3907=) c.5869+5585A= (n.5869+5585A=) | |
| 2 | g.21005149C>A | CA345977565 | APOB | c.11719G>T (p.Asp3907Tyr) c.5869+5584G>T (n.5869+5584G>T) | |
| 2 | g.21005149C= | CA2493474272 | APOB | c.11719G= (p.Asp3907=) c.5869+5584G= (n.5869+5584G=) | |
| 2 | g.21005149C>G | CA345977568 | APOB | c.11719G>C (p.Asp3907His) c.5869+5584G>C (n.5869+5584G>C) | |
| 2 | g.21005149C>T | CA345977569 | APOB | c.11719G>A (p.Asp3907Asn) c.5869+5584G>A (n.5869+5584G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.21005150T>A | CA425136057 | APOB | c.11718A>T (p.Ala3906=) c.5869+5583A>T (n.5869+5583A>T) | |
| 2 | g.21005150T>C | CA425136058 | APOB | c.11718A>G (p.Ala3906=) c.5869+5583A>G (n.5869+5583A>G) | |
| 2 | g.21005150T>G | CA425136059 | APOB | c.11718A>C (p.Ala3906=) c.5869+5583A>C (n.5869+5583A>C) | |
| 2 | g.21005151G>A | CA345977572 | APOB | c.11717C>T (p.Ala3906Val) c.5869+5582C>T (n.5869+5582C>T) | |
| 2 | g.21005151G>C | CA345977574 | APOB | c.11717C>G (p.Ala3906Gly) c.5869+5582C>G (n.5869+5582C>G) | dbSNP |
| 2 | g.21005151G= | CA2493474273 | APOB | c.11717C= (p.Ala3906=) c.5869+5582C= (n.5869+5582C=) | |
| 2 | g.21005151G>T | CA345977575 | APOB | c.11717C>A (p.Ala3906Glu) c.5869+5582C>A (n.5869+5582C>A) | |
| 2 | g.21005152C>A | CA345977581 | APOB | c.11716G>T (p.Ala3906Ser) c.5869+5581G>T (n.5869+5581G>T) | |
| 2 | g.21005152C>G | CA345977578 | APOB | c.11716G>C (p.Ala3906Pro) c.5869+5581G>C (n.5869+5581G>C) | |
| 2 | g.21005152C>T | CA345977580 | APOB | c.11716G>A (p.Ala3906Thr) c.5869+5581G>A (n.5869+5581G>A) | |
| 2 | g.21005153T>A | CA345977584 | APOB | c.11715A>T (p.Lys3905Asn) c.5869+5580A>T (n.5869+5580A>T) | |
| 2 | g.21005153T>C | CA425136060 | APOB | c.11715A>G (p.Lys3905=) c.5869+5580A>G (n.5869+5580A>G) | |
| 2 | g.21005153T>G | CA345977586 | APOB | c.11715A>C (p.Lys3905Asn) c.5869+5580A>C (n.5869+5580A>C) | |
| 2 | g.21005154T>A | CA345977589 | APOB | c.11714A>T (p.Lys3905Ile) c.5869+5579A>T (n.5869+5579A>T) | |
| 2 | g.21005154T>C | CA345977590 | APOB | c.11714A>G (p.Lys3905Arg) c.5869+5579A>G (n.5869+5579A>G) | gnomAD v4 |
| 2 | g.21005154T>G | CA345977592 | APOB | c.11714A>C (p.Lys3905Thr) c.5869+5579A>C (n.5869+5579A>C) | |
| 2 | g.21005155T>A | CA345977595 | APOB | c.11713A>T (p.Lys3905Ter) c.5869+5578A>T (n.5869+5578A>T) | |
| 2 | g.21005155T>C | CA345977598 | APOB | c.11713A>G (p.Lys3905Glu) c.5869+5578A>G (n.5869+5578A>G) | |
| 2 | g.21005155T>G | CA345977596 | APOB | c.11713A>C (p.Lys3905Gln) c.5869+5578A>C (n.5869+5578A>C) | |
| 2 | g.21005155_21005156delinsTG | CA2493474274 | APOB | c.11712_11713delinsCA (p.Asn3904=) c.5869+5577_5869+5578delinsCA (n.5869+5577_5869+5578delinsCA) | |
| 2 | g.21005156del | CA022765 | APOB | c.11712del (p.Asn3904LysfsTer21) c.5869+5577del (n.5869+5577del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005156G>A | CA425136061 | APOB | c.11712C>T (p.Asn3904=) c.5869+5577C>T (n.5869+5577C>T) | |
| 2 | g.21005156G>C | CA345977601 | APOB | c.11712C>G (p.Asn3904Lys) c.5869+5577C>G (n.5869+5577C>G) | |
| 2 | g.21005156G>T | CA345977602 | APOB | c.11712C>A (p.Asn3904Lys) c.5869+5577C>A (n.5869+5577C>A) | |
| 2 | g.21005157T>A | CA345977607 | APOB | c.11711A>T (p.Asn3904Ile) c.5869+5576A>T (n.5869+5576A>T) | dbSNP gnomAD v2 |
| 2 | g.21005157T>C | CA345977609 | APOB | c.11711A>G (p.Asn3904Ser) c.5869+5576A>G (n.5869+5576A>G) | |
| 2 | g.21005157T>G | CA345977610 | APOB | c.11711A>C (p.Asn3904Thr) c.5869+5576A>C (n.5869+5576A>C) | |
| 2 | g.21005157T= | CA2493474275 | APOB | c.11711A= (p.Asn3904=) c.5869+5576A= (n.5869+5576A=) | |
| 2 | g.21005158T>A | CA345977613 | APOB | c.11710A>T (p.Asn3904Tyr) c.5869+5575A>T (n.5869+5575A>T) | |
| 2 | g.21005158T>C | CA345977615 | APOB | c.11710A>G (p.Asn3904Asp) c.5869+5575A>G (n.5869+5575A>G) | |
| 2 | g.21005158T>G | CA345977617 | APOB | c.11710A>C (p.Asn3904His) c.5869+5575A>C (n.5869+5575A>C) | COSMIC |
| 2 | g.21005159T>A | CA345977618 | APOB | c.11709A>T (p.Lys3903Asn) c.5869+5574A>T (n.5869+5574A>T) | |
| 2 | g.21005159T>C | CA425136062 | APOB | c.11709A>G (p.Lys3903=) c.5869+5574A>G (n.5869+5574A>G) | |
| 2 | g.21005159T>G | CA345977619 | APOB | c.11709A>C (p.Lys3903Asn) c.5869+5574A>C (n.5869+5574A>C) | |
| 2 | g.21005160T>A | CA345977624 | APOB | c.11708A>T (p.Lys3903Ile) c.5869+5573A>T (n.5869+5573A>T) | |
| 2 | g.21005160T>C | CA345977623 | APOB | c.11708A>G (p.Lys3903Arg) c.5869+5573A>G (n.5869+5573A>G) | |
| 2 | g.21005160T>G | CA345977622 | APOB | c.11708A>C (p.Lys3903Thr) c.5869+5573A>C (n.5869+5573A>C) | |
| 2 | g.21005161T>A | CA345977628 | APOB | c.11707A>T (p.Lys3903Ter) c.5869+5572A>T (n.5869+5572A>T) | dbSNP |
| 2 | g.21005161T>C | CA345977629 | APOB | c.11707A>G (p.Lys3903Glu) c.5869+5572A>G (n.5869+5572A>G) | |
| 2 | g.21005161T>G | CA345977631 | APOB | c.11707A>C (p.Lys3903Gln) c.5869+5572A>C (n.5869+5572A>C) | |
| 2 | g.21005161T= | CA2493474276 | APOB | c.11707A= (p.Lys3903=) c.5869+5572A= (n.5869+5572A=) | |
| 2 | g.21005162C>A | CA345977634 | APOB | c.11706G>T (p.Leu3902Phe) c.5869+5571G>T (n.5869+5571G>T) | |
| 2 | g.21005162C>G | CA345977636 | APOB | c.11706G>C (p.Leu3902Phe) c.5869+5571G>C (n.5869+5571G>C) | |
| 2 | g.21005162C>T | CA425136063 | APOB | c.11706G>A (p.Leu3902=) c.5869+5571G>A (n.5869+5571G>A) | |
| 2 | g.21005163A= | CA2493474277 | APOB | c.11705T= (p.Leu3902=) c.5869+5570T= (n.5869+5570T=) | |
| 2 | g.21005163A>C | CA345977639 | APOB | c.11705T>G (p.Leu3902Trp) c.5869+5570T>G (n.5869+5570T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005163A>G | CA345977640 | APOB | c.11705T>C (p.Leu3902Ser) c.5869+5570T>C (n.5869+5570T>C) | |
| 2 | g.21005163A>T | CA345977642 | APOB | c.11705T>A (p.Leu3902Ter) c.5869+5570T>A (n.5869+5570T>A) |