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.21007470G>A | CA066496 | APOB | c.9398C>T (p.Pro3133Leu) c.5869+3263C>T (n.5869+3263C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007470G>C | CA345990265 | APOB | c.9398C>G (p.Pro3133Arg) c.5869+3263C>G (n.5869+3263C>G) | |
| 2 | g.21007470G= | CA2493475275 | APOB | c.9398C= (p.Pro3133=) c.5869+3263C= (n.5869+3263C=) | |
| 2 | g.21007470G>T | CA345990266 | APOB | c.9398C>A (p.Pro3133His) c.5869+3263C>A (n.5869+3263C>A) | |
| 2 | g.21007471G>A | CA345990270 | APOB | c.9397C>T (p.Pro3133Ser) c.5869+3262C>T (n.5869+3262C>T) | gnomAD v4 COSMIC |
| 2 | g.21007471G>C | CA345990271 | APOB | c.9397C>G (p.Pro3133Ala) c.5869+3262C>G (n.5869+3262C>G) | |
| 2 | g.21007471G>T | CA345990273 | APOB | c.9397C>A (p.Pro3133Thr) c.5869+3262C>A (n.5869+3262C>A) | |
| 2 | g.21007472A= | CA2493475276 | APOB | c.9396T= (p.Ile3132=) c.5869+3261T= (n.5869+3261T=) | |
| 2 | g.21007472A>C | CA345990276 | APOB | c.9396T>G (p.Ile3132Met) c.5869+3261T>G (n.5869+3261T>G) | |
| 2 | g.21007472A>G | CA066493 | APOB | c.9396T>C (p.Ile3132=) c.5869+3261T>C (n.5869+3261T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007472A>T | CA425344365 | APOB | c.9396T>A (p.Ile3132=) c.5869+3261T>A (n.5869+3261T>A) | |
| 2 | g.21007473A= | CA2493475277 | APOB | c.9395T= (p.Ile3132=) c.5869+3260T= (n.5869+3260T=) | |
| 2 | g.21007473A>C | CA345990281 | APOB | c.9395T>G (p.Ile3132Ser) c.5869+3260T>G (n.5869+3260T>G) | |
| 2 | g.21007473A>G | CA345990282 | APOB | c.9395T>C (p.Ile3132Thr) c.5869+3260T>C (n.5869+3260T>C) | |
| 2 | g.21007473A>T | CA345990285 | APOB | c.9395T>A (p.Ile3132Asn) c.5869+3260T>A (n.5869+3260T>A) | dbSNP |
| 2 | g.21007474T>A | CA345990288 | APOB | c.9394A>T (p.Ile3132Phe) c.5869+3259A>T (n.5869+3259A>T) | |
| 2 | g.21007474T>C | CA345990290 | APOB | c.9394A>G (p.Ile3132Val) c.5869+3259A>G (n.5869+3259A>G) | gnomAD v4 |
| 2 | g.21007474T>G | CA345990292 | APOB | c.9394A>C (p.Ile3132Leu) c.5869+3259A>C (n.5869+3259A>C) | |
| 2 | g.21007475T>A | CA425344370 | APOB | c.9393A>T (p.Thr3131=) c.5869+3258A>T (n.5869+3258A>T) | |
| 2 | g.21007475T>C | CA425344368 | APOB | c.9393A>G (p.Thr3131=) c.5869+3258A>G (n.5869+3258A>G) | ClinVar gnomAD v4 |
| 2 | g.21007475T>G | CA425344369 | APOB | c.9393A>C (p.Thr3131=) c.5869+3258A>C (n.5869+3258A>C) | |
| 2 | g.21007476G>A | CA345990295 | APOB | c.9392C>T (p.Thr3131Ile) c.5869+3257C>T (n.5869+3257C>T) | gnomAD v4 |
| 2 | g.21007476G>C | CA345990297 | APOB | c.9392C>G (p.Thr3131Arg) c.5869+3257C>G (n.5869+3257C>G) | |
| 2 | g.21007476G>T | CA345990299 | APOB | c.9392C>A (p.Thr3131Lys) c.5869+3257C>A (n.5869+3257C>A) | |
| 2 | g.21007477T>A | CA345990303 | APOB | c.9391A>T (p.Thr3131Ser) c.5869+3256A>T (n.5869+3256A>T) | |
| 2 | g.21007477T>C | CA345990305 | APOB | c.9391A>G (p.Thr3131Ala) c.5869+3256A>G (n.5869+3256A>G) | gnomAD v4 |
| 2 | g.21007477T>G | CA345990306 | APOB | c.9391A>C (p.Thr3131Pro) c.5869+3256A>C (n.5869+3256A>C) | |
| 2 | g.21007478T>A | CA345990311 | APOB | c.9390A>T (p.Leu3130Phe) c.5869+3255A>T (n.5869+3255A>T) | |
| 2 | g.21007478T>C | CA425344374 | APOB | c.9390A>G (p.Leu3130=) c.5869+3255A>G (n.5869+3255A>G) | gnomAD v4 |
| 2 | g.21007478T>G | CA345990310 | APOB | c.9390A>C (p.Leu3130Phe) c.5869+3255A>C (n.5869+3255A>C) | |
| 2 | g.21007479A>C | CA345990314 | APOB | c.9389T>G (p.Leu3130Ter) c.5869+3254T>G (n.5869+3254T>G) | |
| 2 | g.21007479A>G | CA345990316 | APOB | c.9389T>C (p.Leu3130Ser) c.5869+3254T>C (n.5869+3254T>C) | |
| 2 | g.21007479A>T | CA345990318 | APOB | c.9389T>A (p.Leu3130Ter) c.5869+3254T>A (n.5869+3254T>A) | |
| 2 | g.21007480A>C | CA345990321 | APOB | c.9388T>G (p.Leu3130Val) c.5869+3253T>G (n.5869+3253T>G) | |
| 2 | g.21007480A>G | CA425344381 | APOB | c.9388T>C (p.Leu3130=) c.5869+3253T>C (n.5869+3253T>C) | |
| 2 | g.21007480A>T | CA345990323 | APOB | c.9388T>A (p.Leu3130Ile) c.5869+3253T>A (n.5869+3253T>A) | |
| 2 | g.21007481A= | CA2493475278 | APOB | c.9387T= (p.Pro3129=) c.5869+3252T= (n.5869+3252T=) | |
| 2 | g.21007481A>C | CA066492 | APOB | c.9387T>G (p.Pro3129=) c.5869+3252T>G (n.5869+3252T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007481A>G | CA425344382 | APOB | c.9387T>C (p.Pro3129=) c.5869+3252T>C (n.5869+3252T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21007481A>T | CA425344383 | APOB | c.9387T>A (p.Pro3129=) c.5869+3252T>A (n.5869+3252T>A) | COSMIC |
| 2 | g.21007482G>A | CA345990328 | APOB | c.9386C>T (p.Pro3129Leu) c.5869+3251C>T (n.5869+3251C>T) | dbSNP COSMIC |
| 2 | g.21007482G>C | CA345990331 | APOB | c.9386C>G (p.Pro3129Arg) c.5869+3251C>G (n.5869+3251C>G) | |
| 2 | g.21007482G= | CA2493475279 | APOB | c.9386C= (p.Pro3129=) c.5869+3251C= (n.5869+3251C=) | |
| 2 | g.21007482G>T | CA066488 | APOB | c.9386C>A (p.Pro3129His) c.5869+3251C>A (n.5869+3251C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007483G>A | CA345990335 | APOB | c.9385C>T (p.Pro3129Ser) c.5869+3250C>T (n.5869+3250C>T) | |
| 2 | g.21007483G>C | CA43497782 | APOB | c.9385C>G (p.Pro3129Ala) c.5869+3250C>G (n.5869+3250C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007483G= | CA2493475280 | APOB | c.9385C= (p.Pro3129=) c.5869+3250C= (n.5869+3250C=) | |
| 2 | g.21007483G>T | CA345990338 | APOB | c.9385C>A (p.Pro3129Thr) c.5869+3250C>A (n.5869+3250C>A) | dbSNP |
| 2 | g.21007484A>C | CA345990340 | APOB | c.9384T>G (p.Ile3128Met) c.5869+3249T>G (n.5869+3249T>G) | |
| 2 | g.21007484A>G | CA425344389 | APOB | c.9384T>C (p.Ile3128=) c.5869+3249T>C (n.5869+3249T>C) | |
| 2 | g.21007484A>T | CA425344390 | APOB | c.9384T>A (p.Ile3128=) c.5869+3249T>A (n.5869+3249T>A) | ClinVar gnomAD v4 |
| 2 | g.21007485A= | CA2493475282 | APOB | c.9383T= (p.Ile3128=) c.5869+3248T= (n.5869+3248T=) | |
| 2 | g.21007485A>C | CA345990346 | APOB | c.9383T>G (p.Ile3128Ser) c.5869+3248T>G (n.5869+3248T>G) | |
| 2 | g.21007485A>G | CA345990348 | APOB | c.9383T>C (p.Ile3128Thr) c.5869+3248T>C (n.5869+3248T>C) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21007485A>T | CA345990344 | APOB | c.9383T>A (p.Ile3128Asn) c.5869+3248T>A (n.5869+3248T>A) | |
| 2 | g.21007485_21007486delinsAT | CA2493475281 | APOB | c.9382_9383delinsAT (p.Ile3128=) c.5869+3247_5869+3248delinsAT (n.5869+3247_5869+3248delinsAT) | |
| 2 | g.21007486del | CA425344399 | APOB | c.9382del (p.Ile3128PhefsTer3) c.5869+3247del (n.5869+3247del) | dbSNP |
| 2 | g.21007486T>A | CA345990351 | APOB | c.9382A>T (p.Ile3128Phe) c.5869+3247A>T (n.5869+3247A>T) | |
| 2 | g.21007486T>C | CA345990353 | APOB | c.9382A>G (p.Ile3128Val) c.5869+3247A>G (n.5869+3247A>G) | |
| 2 | g.21007486T>G | CA345990355 | APOB | c.9382A>C (p.Ile3128Leu) c.5869+3247A>C (n.5869+3247A>C) | |
| 2 | g.21007487del | CA345990359 | APOB | c.9381del (p.Asn3127LysfsTer4) c.5869+3246del (n.5869+3246del) | |
| 2 | g.21007487G>A | CA43497784 | APOB | c.9381C>T (p.Asn3127=) c.5869+3246C>T (n.5869+3246C>T) | dbSNP gnomAD v4 |
| 2 | g.21007487G>C | CA345990363 | APOB | c.9381C>G (p.Asn3127Lys) c.5869+3246C>G (n.5869+3246C>G) | |
| 2 | g.21007487G= | CA2493475283 | APOB | c.9381C= (p.Asn3127=) c.5869+3246C= (n.5869+3246C=) | |
| 2 | g.21007487G>T | CA345990361 | APOB | c.9381C>A (p.Asn3127Lys) c.5869+3246C>A (n.5869+3246C>A) | gnomAD v4 |
| 2 | g.21007487_21007488delinsAA | CA1139655577 | APOB | c.9380_9381delinsTT (p.Asn3127Ile) c.5869+3245_5869+3246delinsTT (n.5869+3245_5869+3246delinsTT) | dbSNP |
| 2 | g.21007487_21007488delinsGT | CA2493475284 | APOB | c.9380_9381delinsAC (p.Asn3127=) c.5869+3245_5869+3246delinsAC (n.5869+3245_5869+3246delinsAC) | |
| 2 | g.21007488T>A | CA345990367 | APOB | c.9380A>T (p.Asn3127Ile) c.5869+3245A>T (n.5869+3245A>T) | gnomAD v4 |
| 2 | g.21007488T>C | CA345990369 | APOB | c.9380A>G (p.Asn3127Ser) c.5869+3245A>G (n.5869+3245A>G) | gnomAD v4 |
| 2 | g.21007488T>G | CA345990371 | APOB | c.9380A>C (p.Asn3127Thr) c.5869+3245A>C (n.5869+3245A>C) | |
| 2 | g.21007490del | CA2576686515 | APOB | c.9380del (p.Asn3127ThrfsTer4) c.5869+3245del (n.5869+3245del) | |
| 2 | g.21007489T>A | CA345990374 | APOB | c.9379A>T (p.Asn3127Tyr) c.5869+3244A>T (n.5869+3244A>T) | |
| 2 | g.21007489T>C | CA345990376 | APOB | c.9379A>G (p.Asn3127Asp) c.5869+3244A>G (n.5869+3244A>G) | |
| 2 | g.21007489T>G | CA345990378 | APOB | c.9379A>C (p.Asn3127His) c.5869+3244A>C (n.5869+3244A>C) | |
| 2 | g.21007490T>A | CA345990384 | APOB | c.9378A>T (p.Leu3126Phe) c.5869+3243A>T (n.5869+3243A>T) | |
| 2 | g.21007490T>C | CA066485 | APOB | c.9378A>G (p.Leu3126=) c.5869+3243A>G (n.5869+3243A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007490T>G | CA345990381 | APOB | c.9378A>C (p.Leu3126Phe) c.5869+3243A>C (n.5869+3243A>C) | |
| 2 | g.21007490T= | CA2493475285 | APOB | c.9378A= (p.Leu3126=) c.5869+3243A= (n.5869+3243A=) | |
| 2 | g.21007491A>C | CA345990387 | APOB | c.9377T>G (p.Leu3126Ter) c.5869+3242T>G (n.5869+3242T>G) | |
| 2 | g.21007491A>G | CA345990391 | APOB | c.9377T>C (p.Leu3126Ser) c.5869+3242T>C (n.5869+3242T>C) | |
| 2 | g.21007491A>T | CA345990389 | APOB | c.9377T>A (p.Leu3126Ter) c.5869+3242T>A (n.5869+3242T>A) | |
| 2 | g.21007492A= | CA2493475286 | APOB | c.9376T= (p.Leu3126=) c.5869+3241T= (n.5869+3241T=) | |
| 2 | g.21007492A>C | CA345990394 | APOB | c.9376T>G (p.Leu3126Val) c.5869+3241T>G (n.5869+3241T>G) | |
| 2 | g.21007492A>G | CA425343777 | APOB | c.9376T>C (p.Leu3126=) c.5869+3241T>C (n.5869+3241T>C) | dbSNP |
| 2 | g.21007492A>T | CA345990396 | APOB | c.9376T>A (p.Leu3126Ile) c.5869+3241T>A (n.5869+3241T>A) | |
| 2 | g.21007493G>A | CA425343779 | APOB | c.9375C>T (p.Phe3125=) c.5869+3240C>T (n.5869+3240C>T) | gnomAD v4 |
| 2 | g.21007493G>C | CA345990399 | APOB | c.9375C>G (p.Phe3125Leu) c.5869+3240C>G (n.5869+3240C>G) | |
| 2 | g.21007493G>T | CA345990401 | APOB | c.9375C>A (p.Phe3125Leu) c.5869+3240C>A (n.5869+3240C>A) | |
| 2 | g.21007494A>C | CA345990404 | APOB | c.9374T>G (p.Phe3125Cys) c.5869+3239T>G (n.5869+3239T>G) | |
| 2 | g.21007494A>G | CA345990406 | APOB | c.9374T>C (p.Phe3125Ser) c.5869+3239T>C (n.5869+3239T>C) | |
| 2 | g.21007494A>T | CA345990408 | APOB | c.9374T>A (p.Phe3125Tyr) c.5869+3239T>A (n.5869+3239T>A) | |
| 2 | g.21007495A>C | CA345990411 | APOB | c.9373T>G (p.Phe3125Val) c.5869+3238T>G (n.5869+3238T>G) | |
| 2 | g.21007495A>G | CA345990413 | APOB | c.9373T>C (p.Phe3125Leu) c.5869+3238T>C (n.5869+3238T>C) | |
| 2 | g.21007495A>T | CA345990415 | APOB | c.9373T>A (p.Phe3125Ile) c.5869+3238T>A (n.5869+3238T>A) | |
| 2 | g.21007496A>C | CA345990418 | APOB | c.9372T>G (p.Asp3124Glu) c.5869+3237T>G (n.5869+3237T>G) | |
| 2 | g.21007496A>G | CA425343783 | APOB | c.9372T>C (p.Asp3124=) c.5869+3237T>C (n.5869+3237T>C) | |
| 2 | g.21007496A>T | CA345990420 | APOB | c.9372T>A (p.Asp3124Glu) c.5869+3237T>A (n.5869+3237T>A) | |
| 2 | g.21007497T>A | CA345990423 | APOB | c.9371A>T (p.Asp3124Val) c.5869+3236A>T (n.5869+3236A>T) | |
| 2 | g.21007497T>C | CA345990425 | APOB | c.9371A>G (p.Asp3124Gly) c.5869+3236A>G (n.5869+3236A>G) | ClinVar |
| 2 | g.21007497T>G | CA345990427 | APOB | c.9371A>C (p.Asp3124Ala) c.5869+3236A>C (n.5869+3236A>C) | |
| 2 | g.21007498C>A | CA345990430 | APOB | c.9370G>T (p.Asp3124Tyr) c.5869+3235G>T (n.5869+3235G>T) | |
| 2 | g.21007498C>G | CA345990434 | APOB | c.9370G>C (p.Asp3124His) c.5869+3235G>C (n.5869+3235G>C) | |
| 2 | g.21007498C>T | CA345990432 | APOB | c.9370G>A (p.Asp3124Asn) c.5869+3235G>A (n.5869+3235G>A) | |
| 2 | g.21007499C>A | CA425343791 | APOB | c.9369G>T (p.Leu3123=) c.5869+3234G>T (n.5869+3234G>T) | |
| 2 | g.21007499C>G | CA425343792 | APOB | c.9369G>C (p.Leu3123=) c.5869+3234G>C (n.5869+3234G>C) | |
| 2 | g.21007499C>T | CA425343793 | APOB | c.9369G>A (p.Leu3123=) c.5869+3234G>A (n.5869+3234G>A) | ClinVar |
| 2 | g.21007500A>C | CA345990437 | APOB | c.9368T>G (p.Leu3123Arg) c.5869+3233T>G (n.5869+3233T>G) | |
| 2 | g.21007500A>G | CA345990439 | APOB | c.9368T>C (p.Leu3123Pro) c.5869+3233T>C (n.5869+3233T>C) | |
| 2 | g.21007500A>T | CA345990441 | APOB | c.9368T>A (p.Leu3123Gln) c.5869+3233T>A (n.5869+3233T>A) | |
| 2 | g.21007501G>A | CA066480 | APOB | c.9367C>T (p.Leu3123=) c.5869+3232C>T (n.5869+3232C>T) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
| 2 | g.21007501G>C | CA345990446 | APOB | c.9367C>G (p.Leu3123Val) c.5869+3232C>G (n.5869+3232C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21007501G= | CA2493475287 | APOB | c.9367C= (p.Leu3123=) c.5869+3232C= (n.5869+3232C=) | |
| 2 | g.21007501G>T | CA345990448 | APOB | c.9367C>A (p.Leu3123Met) c.5869+3232C>A (n.5869+3232C>A) | |
| 2 | g.21007502A= | CA2493475288 | APOB | c.9366T= (p.Asn3122=) c.5869+3231T= (n.5869+3231T=) | |
| 2 | g.21007502A>C | CA345990451 | APOB | c.9366T>G (p.Asn3122Lys) c.5869+3231T>G (n.5869+3231T>G) | |
| 2 | g.21007502A>G | CA425343796 | APOB | c.9366T>C (p.Asn3122=) c.5869+3231T>C (n.5869+3231T>C) | dbSNP |
| 2 | g.21007502A>T | CA345990453 | APOB | c.9366T>A (p.Asn3122Lys) c.5869+3231T>A (n.5869+3231T>A) | |
| 2 | g.21007503T>A | CA345990456 | APOB | c.9365A>T (p.Asn3122Ile) c.5869+3230A>T (n.5869+3230A>T) | |
| 2 | g.21007503T>C | CA345990458 | APOB | c.9365A>G (p.Asn3122Ser) c.5869+3230A>G (n.5869+3230A>G) | |
| 2 | g.21007503T>G | CA345990460 | APOB | c.9365A>C (p.Asn3122Thr) c.5869+3230A>C (n.5869+3230A>C) | |
| 2 | g.21007504T>A | CA345990463 | APOB | c.9364A>T (p.Asn3122Tyr) c.5869+3229A>T (n.5869+3229A>T) | |
| 2 | g.21007504T>C | CA345990462 | APOB | c.9364A>G (p.Asn3122Asp) c.5869+3229A>G (n.5869+3229A>G) | |
| 2 | g.21007504T>G | CA345990461 | APOB | c.9364A>C (p.Asn3122His) c.5869+3229A>C (n.5869+3229A>C) | |
| 2 | g.21007505T>A | CA425343798 | APOB | c.9363A>T (p.Ala3121=) c.5869+3228A>T (n.5869+3228A>T) | |
| 2 | g.21007505T>C | CA425343799 | APOB | c.9363A>G (p.Ala3121=) c.5869+3228A>G (n.5869+3228A>G) | |
| 2 | g.21007505T>G | CA425343802 | APOB | c.9363A>C (p.Ala3121=) c.5869+3228A>C (n.5869+3228A>C) | dbSNP |
| 2 | g.21007505T= | CA2493475289 | APOB | c.9363A= (p.Ala3121=) c.5869+3228A= (n.5869+3228A=) | |
| 2 | g.21007506G>A | CA345990466 | APOB | c.9362C>T (p.Ala3121Val) c.5869+3227C>T (n.5869+3227C>T) | gnomAD v4 |
| 2 | g.21007506G>C | CA345990464 | APOB | c.9362C>G (p.Ala3121Gly) c.5869+3227C>G (n.5869+3227C>G) | COSMIC |
| 2 | g.21007506G>T | CA345990465 | APOB | c.9362C>A (p.Ala3121Glu) c.5869+3227C>A (n.5869+3227C>A) | |
| 2 | g.21007507C>A | CA066477 | APOB | c.9361G>T (p.Ala3121Ser) c.5869+3226G>T (n.5869+3226G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007507C= | CA2493475290 | APOB | c.9361G= (p.Ala3121=) c.5869+3226G= (n.5869+3226G=) | |
| 2 | g.21007507C>G | CA345990467 | APOB | c.9361G>C (p.Ala3121Pro) c.5869+3226G>C (n.5869+3226G>C) | |
| 2 | g.21007507C>T | CA43497813 | APOB | c.9361G>A (p.Ala3121Thr) c.5869+3226G>A (n.5869+3226G>A) | dbSNP |
| 2 | g.21007508T>A | CA345990468 | APOB | c.9360A>T (p.Glu3120Asp) c.5869+3225A>T (n.5869+3225A>T) | dbSNP |
| 2 | g.21007508T>C | CA425343807 | APOB | c.9360A>G (p.Glu3120=) c.5869+3225A>G (n.5869+3225A>G) | |
| 2 | g.21007508T>G | CA066472 | APOB | c.9360A>C (p.Glu3120Asp) c.5869+3225A>C (n.5869+3225A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007508T= | CA2493475291 | APOB | c.9360A= (p.Glu3120=) c.5869+3225A= (n.5869+3225A=) | |
| 2 | g.21007509T>A | CA345990469 | APOB | c.9359A>T (p.Glu3120Val) c.5869+3224A>T (n.5869+3224A>T) | |
| 2 | g.21007509T>C | CA345990470 | APOB | c.9359A>G (p.Glu3120Gly) c.5869+3224A>G (n.5869+3224A>G) | gnomAD v3 gnomAD v4 |
| 2 | g.21007509T>G | CA345990471 | APOB | c.9359A>C (p.Glu3120Ala) c.5869+3224A>C (n.5869+3224A>C) | |
| 2 | g.21007510C>A | CA345990472 | APOB | c.9358G>T (p.Glu3120Ter) c.5869+3223G>T (n.5869+3223G>T) | |
| 2 | g.21007510C>G | CA345990473 | APOB | c.9358G>C (p.Glu3120Gln) c.5869+3223G>C (n.5869+3223G>C) | |
| 2 | g.21007510C>T | CA345990474 | APOB | c.9358G>A (p.Glu3120Lys) c.5869+3223G>A (n.5869+3223G>A) | gnomAD v4 |
| 2 | g.21007511T>A | CA425343808 | APOB | c.9357A>T (p.Gly3119=) c.5869+3222A>T (n.5869+3222A>T) | |
| 2 | g.21007511T>C | CA425343809 | APOB | c.9357A>G (p.Gly3119=) c.5869+3222A>G (n.5869+3222A>G) | |
| 2 | g.21007511T>G | CA425343810 | APOB | c.9357A>C (p.Gly3119=) c.5869+3222A>C (n.5869+3222A>C) | |
| 2 | g.21007512C>A | CA345990476 | APOB | c.9356G>T (p.Gly3119Val) c.5869+3221G>T (n.5869+3221G>T) | |
| 2 | g.21007512C= | CA2493475292 | APOB | c.9356G= (p.Gly3119=) c.5869+3221G= (n.5869+3221G=) | |
| 2 | g.21007512C>G | CA345990475 | APOB | c.9356G>C (p.Gly3119Ala) c.5869+3221G>C (n.5869+3221G>C) | |
| 2 | g.21007512C>T | CA066469 | APOB | c.9356G>A (p.Gly3119Glu) c.5869+3221G>A (n.5869+3221G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007513C>A | CA345990477 | APOB | c.9355G>T (p.Gly3119Ter) c.5869+3220G>T (n.5869+3220G>T) | |
| 2 | g.21007513C>G | CA345990478 | APOB | c.9355G>C (p.Gly3119Arg) c.5869+3220G>C (n.5869+3220G>C) | |
| 2 | g.21007513C>T | CA345990479 | APOB | c.9355G>A (p.Gly3119Arg) c.5869+3220G>A (n.5869+3220G>A) | gnomAD v4 |
| 2 | g.21007514A= | CA2493475293 | APOB | c.9354T= (p.Asn3118=) c.5869+3219T= (n.5869+3219T=) | |
| 2 | g.21007514A>C | CA345990480 | APOB | c.9354T>G (p.Asn3118Lys) c.5869+3219T>G (n.5869+3219T>G) | |
| 2 | g.21007514A>G | CA425343815 | APOB | c.9354T>C (p.Asn3118=) c.5869+3219T>C (n.5869+3219T>C) | ClinVar dbSNP |
| 2 | g.21007514A>T | CA345990481 | APOB | c.9354T>A (p.Asn3118Lys) c.5869+3219T>A (n.5869+3219T>A) | gnomAD v4 |
| 2 | g.21007515T>A | CA345990482 | APOB | c.9353A>T (p.Asn3118Ile) c.5869+3218A>T (n.5869+3218A>T) | |
| 2 | g.21007515T>C | CA345990483 | APOB | c.9353A>G (p.Asn3118Ser) c.5869+3218A>G (n.5869+3218A>G) | |
| 2 | g.21007515T>G | CA345990484 | APOB | c.9353A>C (p.Asn3118Thr) c.5869+3218A>C (n.5869+3218A>C) | |
| 2 | g.21007517dup | CA2586968919 | APOB | c.9353dup (p.Asn3118LysfsTer17) c.5869+3218dup (n.5869+3218dup) | gnomAD v4 |
| 2 | g.21007516T>A | CA345990485 | APOB | c.9352A>T (p.Asn3118Tyr) c.5869+3217A>T (n.5869+3217A>T) | |
| 2 | g.21007516T>C | CA345990486 | APOB | c.9352A>G (p.Asn3118Asp) c.5869+3217A>G (n.5869+3217A>G) | |
| 2 | g.21007516T>G | CA345990487 | APOB | c.9352A>C (p.Asn3118His) c.5869+3217A>C (n.5869+3217A>C) | |
| 2 | g.21007517T>A | CA425343827 | APOB | c.9351A>T (p.Ile3117=) c.5869+3216A>T (n.5869+3216A>T) | |
| 2 | g.21007517T>C | CA345990488 | APOB | c.9351A>G (p.Ile3117Met) c.5869+3216A>G (n.5869+3216A>G) | dbSNP |
| 2 | g.21007517T>G | CA425343825 | APOB | c.9351A>C (p.Ile3117=) c.5869+3216A>C (n.5869+3216A>C) | |
| 2 | g.21007517T= | CA2493475294 | APOB | c.9351A= (p.Ile3117=) c.5869+3216A= (n.5869+3216A=) | |
| 2 | g.21007518A= | CA2493475295 | APOB | c.9350T= (p.Ile3117=) c.5869+3215T= (n.5869+3215T=) | |
| 2 | g.21007518A>C | CA345990490 | APOB | c.9350T>G (p.Ile3117Arg) c.5869+3215T>G (n.5869+3215T>G) | |
| 2 | g.21007518A>G | CA345990491 | APOB | c.9350T>C (p.Ile3117Thr) c.5869+3215T>C (n.5869+3215T>C) | |
| 2 | g.21007518A>T | CA345990489 | APOB | c.9350T>A (p.Ile3117Lys) c.5869+3215T>A (n.5869+3215T>A) | dbSNP |
| 2 | g.21007519T>A | CA345990492 | APOB | c.9349A>T (p.Ile3117Leu) c.5869+3214A>T (n.5869+3214A>T) | |
| 2 | g.21007519T>C | CA345990494 | APOB | c.9349A>G (p.Ile3117Val) c.5869+3214A>G (n.5869+3214A>G) | gnomAD v4 |
| 2 | g.21007519T>G | CA345990493 | APOB | c.9349A>C (p.Ile3117Leu) c.5869+3214A>C (n.5869+3214A>C) | |
| 2 | g.21007520T>A | CA425343832 | APOB | c.9348A>T (p.Gly3116=) c.5869+3213A>T (n.5869+3213A>T) | |
| 2 | g.21007520T>C | CA425343833 | APOB | c.9348A>G (p.Gly3116=) c.5869+3213A>G (n.5869+3213A>G) | |
| 2 | g.21007520T>G | CA425343834 | APOB | c.9348A>C (p.Gly3116=) c.5869+3213A>C (n.5869+3213A>C) | |
| 2 | g.21007521C>A | CA345990495 | APOB | c.9347G>T (p.Gly3116Val) c.5869+3212G>T (n.5869+3212G>T) | |
| 2 | g.21007521C= | CA2493475296 | APOB | c.9347G= (p.Gly3116=) c.5869+3212G= (n.5869+3212G=) | |
| 2 | g.21007521C>G | CA345990496 | APOB | c.9347G>C (p.Gly3116Ala) c.5869+3212G>C (n.5869+3212G>C) | |
| 2 | g.21007521C>T | CA43497816 | APOB | c.9347G>A (p.Gly3116Glu) c.5869+3212G>A (n.5869+3212G>A) | dbSNP gnomAD v4 COSMIC |
| 2 | g.21007522C>A | CA345990497 | APOB | c.9346G>T (p.Gly3116Ter) c.5869+3211G>T (n.5869+3211G>T) | gnomAD v4 COSMIC |
| 2 | g.21007522C= | CA2493475297 | APOB | c.9346G= (p.Gly3116=) c.5869+3211G= (n.5869+3211G=) | |
| 2 | g.21007522C>G | CA345990498 | APOB | c.9346G>C (p.Gly3116Arg) c.5869+3211G>C (n.5869+3211G>C) | |
| 2 | g.21007522C>T | CA345990499 | APOB | c.9346G>A (p.Gly3116Arg) c.5869+3211G>A (n.5869+3211G>A) | dbSNP |
| 2 | g.21007523T>A | CA425343843 | APOB | c.9345A>T (p.Val3115=) c.5869+3210A>T (n.5869+3210A>T) | |
| 2 | g.21007523T>C | CA425343841 | APOB | c.9345A>G (p.Val3115=) c.5869+3210A>G (n.5869+3210A>G) | |
| 2 | g.21007523T>G | CA425343842 | APOB | c.9345A>C (p.Val3115=) c.5869+3210A>C (n.5869+3210A>C) | |
| 2 | g.21007524A>C | CA345990500 | APOB | c.9344T>G (p.Val3115Gly) c.5869+3209T>G (n.5869+3209T>G) | gnomAD v4 |
| 2 | g.21007524A>G | CA345990501 | APOB | c.9344T>C (p.Val3115Ala) c.5869+3209T>C (n.5869+3209T>C) | |
| 2 | g.21007524A>T | CA345990502 | APOB | c.9344T>A (p.Val3115Glu) c.5869+3209T>A (n.5869+3209T>A) | |
| 2 | g.21007525C>A | CA345990503 | APOB | c.9343G>T (p.Val3115Leu) c.5869+3208G>T (n.5869+3208G>T) | |
| 2 | g.21007525C= | CA2493475298 | APOB | c.9343G= (p.Val3115=) c.5869+3208G= (n.5869+3208G=) | |
| 2 | g.21007525C>G | CA345990504 | APOB | c.9343G>C (p.Val3115Leu) c.5869+3208G>C (n.5869+3208G>C) | |
| 2 | g.21007525C>T | CA066466 | APOB | c.9343G>A (p.Val3115Ile) c.5869+3208G>A (n.5869+3208G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007526A= | CA2493475299 | APOB | c.9342T= (p.His3114=) c.5869+3207T= (n.5869+3207T=) | |
| 2 | g.21007526A>C | CA345990506 | APOB | c.9342T>G (p.His3114Gln) c.5869+3207T>G (n.5869+3207T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21007526A>G | CA066463 | APOB | c.9342T>C (p.His3114=) c.5869+3207T>C (n.5869+3207T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007526A>T | CA345990505 | APOB | c.9342T>A (p.His3114Gln) c.5869+3207T>A (n.5869+3207T>A) | |
| 2 | g.21007527T>A | CA345990507 | APOB | c.9341A>T (p.His3114Leu) c.5869+3206A>T (n.5869+3206A>T) | |
| 2 | g.21007527T>C | CA345990508 | APOB | c.9341A>G (p.His3114Arg) c.5869+3206A>G (n.5869+3206A>G) | dbSNP |
| 2 | g.21007527T>G | CA345990509 | APOB | c.9341A>C (p.His3114Pro) c.5869+3206A>C (n.5869+3206A>C) | |
| 2 | g.21007527T= | CA2493475300 | APOB | c.9341A= (p.His3114=) c.5869+3206A= (n.5869+3206A=) | |
| 2 | g.21007527_21007528delinsTG | CA2493475301 | APOB | c.9340_9341delinsCA (p.His3114=) c.5869+3205_5869+3206delinsCA (n.5869+3205_5869+3206delinsCA) | |
| 2 | g.21007528G>A | CA345990510 | APOB | c.9340C>T (p.His3114Tyr) c.5869+3205C>T (n.5869+3205C>T) | gnomAD v4 |
| 2 | g.21007528G>C | CA345990511 | APOB | c.9340C>G (p.His3114Asp) c.5869+3205C>G (n.5869+3205C>G) | |
| 2 | g.21007528G= | CA2493475302 | APOB | c.9340C= (p.His3114=) c.5869+3205C= (n.5869+3205C=) | |
| 2 | g.21007528G>T | CA345990512 | APOB | c.9340C>A (p.His3114Asn) c.5869+3205C>A (n.5869+3205C>A) | dbSNP |
| 2 | g.21007530del | CA913187891 | APOB | c.9340del (p.His3114MetfsTer2) c.5869+3205del (n.5869+3205del) | dbSNP |
| 2 | g.21007529G>A | CA066461 | APOB | c.9339C>T (p.Ala3113=) c.5869+3204C>T (n.5869+3204C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007529G>C | CA425343852 | APOB | c.9339C>G (p.Ala3113=) c.5869+3204C>G (n.5869+3204C>G) | |
| 2 | g.21007529G= | CA2493475303 | APOB | c.9339C= (p.Ala3113=) c.5869+3204C= (n.5869+3204C=) | |
| 2 | g.21007529G>T | CA425343853 | APOB | c.9339C>A (p.Ala3113=) c.5869+3204C>A (n.5869+3204C>A) | |
| 2 | g.21007530G>A | CA345990513 | APOB | c.9338C>T (p.Ala3113Val) c.5869+3203C>T (n.5869+3203C>T) | |
| 2 | g.21007530G>C | CA345990514 | APOB | c.9338C>G (p.Ala3113Gly) c.5869+3203C>G (n.5869+3203C>G) | gnomAD v4 |
| 2 | g.21007530G>T | CA345990515 | APOB | c.9338C>A (p.Ala3113Asp) c.5869+3203C>A (n.5869+3203C>A) | |
| 2 | g.21007531C>A | CA345990518 | APOB | c.9337G>T (p.Ala3113Ser) c.5869+3202G>T (n.5869+3202G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21007531C= | CA2493475304 | APOB | c.9337G= (p.Ala3113=) c.5869+3202G= (n.5869+3202G=) | |
| 2 | g.21007531C>G | CA345990517 | APOB | c.9337G>C (p.Ala3113Pro) c.5869+3202G>C (n.5869+3202G>C) | |
| 2 | g.21007531C>T | CA345990516 | APOB | c.9337G>A (p.Ala3113Thr) c.5869+3202G>A (n.5869+3202G>A) | gnomAD v4 |
| 2 | g.21007532C>A | CA345990519 | APOB | c.9336G>T (p.Glu3112Asp) c.5869+3201G>T (n.5869+3201G>T) | ClinVar gnomAD v4 |
| 2 | g.21007532C= | CA2493475305 | APOB | c.9336G= (p.Glu3112=) c.5869+3201G= (n.5869+3201G=) | |
| 2 | g.21007532C>G | CA345990520 | APOB | c.9336G>C (p.Glu3112Asp) c.5869+3201G>C (n.5869+3201G>C) | gnomAD v4 |
| 2 | g.21007532C>T | CA066458 | APOB | c.9336G>A (p.Glu3112=) c.5869+3201G>A (n.5869+3201G>A) | dbSNP ExAC gnomAD v2 |
| 2 | g.21007533T>A | CA345990521 | APOB | c.9335A>T (p.Glu3112Val) c.5869+3200A>T (n.5869+3200A>T) | |
| 2 | g.21007533T>C | CA345990522 | APOB | c.9335A>G (p.Glu3112Gly) c.5869+3200A>G (n.5869+3200A>G) | |
| 2 | g.21007533T>G | CA345990523 | APOB | c.9335A>C (p.Glu3112Ala) c.5869+3200A>C (n.5869+3200A>C) | |
| 2 | g.21007534C>A | CA345990524 | APOB | c.9334G>T (p.Glu3112Ter) c.5869+3199G>T (n.5869+3199G>T) | |
| 2 | g.21007534C= | CA2493475306 | APOB | c.9334G= (p.Glu3112=) c.5869+3199G= (n.5869+3199G=) | |
| 2 | g.21007534C>G | CA066455 | APOB | c.9334G>C (p.Glu3112Gln) c.5869+3199G>C (n.5869+3199G>C) | dbSNP ExAC |
| 2 | g.21007534C>T | CA345990525 | APOB | c.9334G>A (p.Glu3112Lys) c.5869+3199G>A (n.5869+3199G>A) | |
| 2 | g.21007534_21007539delinsCCATAA | CA2493475307 | APOB | c.9329_9334delinsTTATGG (p.Ile3110=) c.5869+3194_5869+3199delinsTTATGG (n.5869+3194_5869+3199delinsTTATGG) | |
| 2 | g.21007535C>A | CA345990526 | APOB | c.9333G>T (p.Met3111Ile) c.5869+3198G>T (n.5869+3198G>T) | |
| 2 | g.21007535C= | CA2493475309 | APOB | c.9333G= (p.Met3111=) c.5869+3198G= (n.5869+3198G=) | |
| 2 | g.21007535C>G | CA345990527 | APOB | c.9333G>C (p.Met3111Ile) c.5869+3198G>C (n.5869+3198G>C) | |
| 2 | g.21007535C>T | CA345990528 | APOB | c.9333G>A (p.Met3111Ile) c.5869+3198G>A (n.5869+3198G>A) | dbSNP |
| 2 | g.21007535_21007539del | CA2493475308 | APOB | c.9329_9333del (p.Ile3110ArgfsTer23) c.5869+3194_5869+3198del (n.5869+3194_5869+3198del) | dbSNP |
| 2 | g.21007536A>C | CA345990531 | APOB | c.9332T>G (p.Met3111Arg) c.5869+3197T>G (n.5869+3197T>G) | |
| 2 | g.21007536A>G | CA345990529 | APOB | c.9332T>C (p.Met3111Thr) c.5869+3197T>C (n.5869+3197T>C) | gnomAD v4 |
| 2 | g.21007536A>T | CA345990530 | APOB | c.9332T>A (p.Met3111Lys) c.5869+3197T>A (n.5869+3197T>A) | |
| 2 | g.21007537T>A | CA345990532 | APOB | c.9331A>T (p.Met3111Leu) c.5869+3196A>T (n.5869+3196A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21007537T>C | CA345990533 | APOB | c.9331A>G (p.Met3111Val) c.5869+3196A>G (n.5869+3196A>G) | |
| 2 | g.21007537T>G | CA345990534 | APOB | c.9331A>C (p.Met3111Leu) c.5869+3196A>C (n.5869+3196A>C) | |
| 2 | g.21007537T= | CA2493475310 | APOB | c.9331A= (p.Met3111=) c.5869+3196A= (n.5869+3196A=) | |
| 2 | g.21007538A= | CA2493475311 | APOB | c.9330T= (p.Ile3110=) c.5869+3195T= (n.5869+3195T=) | |
| 2 | g.21007538A>C | CA345990535 | APOB | c.9330T>G (p.Ile3110Met) c.5869+3195T>G (n.5869+3195T>G) | |
| 2 | g.21007538A>G | CA425343873 | APOB | c.9330T>C (p.Ile3110=) c.5869+3195T>C (n.5869+3195T>C) | dbSNP |
| 2 | g.21007538A>T | CA43497867 | APOB | c.9330T>A (p.Ile3110=) c.5869+3195T>A (n.5869+3195T>A) | dbSNP gnomAD v4 |
| 2 | g.21007539A= | CA2493475312 | APOB | c.9329T= (p.Ile3110=) c.5869+3194T= (n.5869+3194T=) | |
| 2 | g.21007539A>C | CA345990536 | APOB | c.9329T>G (p.Ile3110Ser) c.5869+3194T>G (n.5869+3194T>G) | |
| 2 | g.21007539A>G | CA345990537 | APOB | c.9329T>C (p.Ile3110Thr) c.5869+3194T>C (n.5869+3194T>C) | |
| 2 | g.21007539A>T | CA345990538 | APOB | c.9329T>A (p.Ile3110Asn) c.5869+3194T>A (n.5869+3194T>A) | dbSNP COSMIC |
| 2 | g.21007540T>A | CA345990539 | APOB | c.9328A>T (p.Ile3110Phe) c.5869+3193A>T (n.5869+3193A>T) | |
| 2 | g.21007540T>C | CA345990540 | APOB | c.9328A>G (p.Ile3110Val) c.5869+3193A>G (n.5869+3193A>G) | gnomAD v4 |
| 2 | g.21007540T>G | CA345990541 | APOB | c.9328A>C (p.Ile3110Leu) c.5869+3193A>C (n.5869+3193A>C) | dbSNP |
| 2 | g.21007540T= | CA2493475313 | APOB | c.9328A= (p.Ile3110=) c.5869+3193A= (n.5869+3193A=) | |
| 2 | g.21007541G>A | CA43497869 | APOB | c.9327C>T (p.Asn3109=) c.5869+3192C>T (n.5869+3192C>T) | dbSNP gnomAD v4 |
| 2 | g.21007541G>C | CA345990543 | APOB | c.9327C>G (p.Asn3109Lys) c.5869+3192C>G (n.5869+3192C>G) | |
| 2 | g.21007541G= | CA2493475314 | APOB | c.9327C= (p.Asn3109=) c.5869+3192C= (n.5869+3192C=) | |
| 2 | g.21007541G>T | CA345990542 | APOB | c.9327C>A (p.Asn3109Lys) c.5869+3192C>A (n.5869+3192C>A) | gnomAD v4 |
| 2 | g.21007542T>A | CA345990544 | APOB | c.9326A>T (p.Asn3109Ile) c.5869+3191A>T (n.5869+3191A>T) | |
| 2 | g.21007542T>C | CA345990545 | APOB | c.9326A>G (p.Asn3109Ser) c.5869+3191A>G (n.5869+3191A>G) | |
| 2 | g.21007542T>G | CA345990546 | APOB | c.9326A>C (p.Asn3109Thr) c.5869+3191A>C (n.5869+3191A>C) | |
| 2 | g.21007542T= | CA2493475315 | APOB | c.9326A= (p.Asn3109=) c.5869+3191A= (n.5869+3191A=) | |
| 2 | g.21007542_21007543insGCTTC | CA2493475316 | APOB | c.9325_9326insGAAGC (p.Asn3109ArgfsTer9) c.5869+3190_5869+3191insGAAGC (n.5869+3190_5869+3191insGAAGC) | dbSNP |
| 2 | g.21007543T>A | CA345990547 | APOB | c.9325A>T (p.Asn3109Tyr) c.5869+3190A>T (n.5869+3190A>T) | |
| 2 | g.21007543T>C | CA345990548 | APOB | c.9325A>G (p.Asn3109Asp) c.5869+3190A>G (n.5869+3190A>G) | |
| 2 | g.21007543T>G | CA345990549 | APOB | c.9325A>C (p.Asn3109His) c.5869+3190A>C (n.5869+3190A>C) | dbSNP |
| 2 | g.21007543T= | CA2493475317 | APOB | c.9325A= (p.Asn3109=) c.5869+3190A= (n.5869+3190A=) | |
| 2 | g.21007544C>A | CA345990550 | APOB | c.9324G>T (p.Glu3108Asp) c.5869+3189G>T (n.5869+3189G>T) | |
| 2 | g.21007544C= | CA2493475318 | APOB | c.9324G= (p.Glu3108=) c.5869+3189G= (n.5869+3189G=) | |
| 2 | g.21007544C>G | CA345990551 | APOB | c.9324G>C (p.Glu3108Asp) c.5869+3189G>C (n.5869+3189G>C) | |
| 2 | g.21007544C>T | CA425343885 | APOB | c.9324G>A (p.Glu3108=) c.5869+3189G>A (n.5869+3189G>A) | dbSNP |
| 2 | g.21007545T>A | CA345990552 | APOB | c.9323A>T (p.Glu3108Val) c.5869+3188A>T (n.5869+3188A>T) | |
| 2 | g.21007545T>C | CA345990553 | APOB | c.9323A>G (p.Glu3108Gly) c.5869+3188A>G (n.5869+3188A>G) | |
| 2 | g.21007545T>G | CA345990554 | APOB | c.9323A>C (p.Glu3108Ala) c.5869+3188A>C (n.5869+3188A>C) | |
| 2 | g.21007546C>A | CA345990555 | APOB | c.9322G>T (p.Glu3108Ter) c.5869+3187G>T (n.5869+3187G>T) | |
| 2 | g.21007546C= | CA2493475320 | APOB | c.9322G= (p.Glu3108=) c.5869+3187G= (n.5869+3187G=) | |
| 2 | g.21007546C>G | CA345990556 | APOB | c.9322G>C (p.Glu3108Gln) c.5869+3187G>C (n.5869+3187G>C) | |
| 2 | g.21007546C>T | CA066451 | APOB | c.9322G>A (p.Glu3108Lys) c.5869+3187G>A (n.5869+3187G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007546_21007549delinsCGTT | CA2493475319 | APOB | c.9319_9322delinsAACG (p.Asn3107=) c.5869+3184_5869+3187delinsAACG (n.5869+3184_5869+3187delinsAACG) | |
| 2 | g.21007547G>A | CA066448 | APOB | c.9321C>T (p.Asn3107=) c.5869+3186C>T (n.5869+3186C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21007547G>C | CA066443 | APOB | c.9321C>G (p.Asn3107Lys) c.5869+3186C>G (n.5869+3186C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007547G= | CA2493475321 | APOB | c.9321C= (p.Asn3107=) c.5869+3186C= (n.5869+3186C=) | |
| 2 | g.21007547G>T | CA345990557 | APOB | c.9321C>A (p.Asn3107Lys) c.5869+3186C>A (n.5869+3186C>A) | dbSNP gnomAD v4 |
| 2 | g.21007550_21007552del | CA645523826 | APOB | c.9319_9321del (p.Asn3107del) c.5869+3184_5869+3186del (n.5869+3184_5869+3186del) | dbSNP gnomAD v4 COSMIC |
| 2 | g.21007548T>A | CA345990558 | APOB | c.9320A>T (p.Asn3107Ile) c.5869+3185A>T (n.5869+3185A>T) | |
| 2 | g.21007548T>C | CA345990559 | APOB | c.9320A>G (p.Asn3107Ser) c.5869+3185A>G (n.5869+3185A>G) | |
| 2 | g.21007548T>G | CA345990560 | APOB | c.9320A>C (p.Asn3107Thr) c.5869+3185A>C (n.5869+3185A>C) | |
| 2 | g.21007549T>A | CA345990561 | APOB | c.9319A>T (p.Asn3107Tyr) c.5869+3184A>T (n.5869+3184A>T) | |
| 2 | g.21007549T>C | CA345990562 | APOB | c.9319A>G (p.Asn3107Asp) c.5869+3184A>G (n.5869+3184A>G) | |
| 2 | g.21007549T>G | CA345990563 | APOB | c.9319A>C (p.Asn3107His) c.5869+3184A>C (n.5869+3184A>C) | |
| 2 | g.21007550G>A | CA425343892 | APOB | c.9318C>T (p.Asn3106=) c.5869+3183C>T (n.5869+3183C>T) | |
| 2 | g.21007550G>C | CA345990564 | APOB | c.9318C>G (p.Asn3106Lys) c.5869+3183C>G (n.5869+3183C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007550G= | CA2493475322 | APOB | c.9318C= (p.Asn3106=) c.5869+3183C= (n.5869+3183C=) | |
| 2 | g.21007550G>T | CA345990565 | APOB | c.9318C>A (p.Asn3106Lys) c.5869+3183C>A (n.5869+3183C>A) | |
| 2 | g.21007551T>A | CA345990566 | APOB | c.9317A>T (p.Asn3106Ile) c.5869+3182A>T (n.5869+3182A>T) | |
| 2 | g.21007551T>C | CA066440 | APOB | c.9317A>G (p.Asn3106Ser) c.5869+3182A>G (n.5869+3182A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007551T>G | CA345990567 | APOB | c.9317A>C (p.Asn3106Thr) c.5869+3182A>C (n.5869+3182A>C) | |
| 2 | g.21007551T= | CA2493475323 | APOB | c.9317A= (p.Asn3106=) c.5869+3182A= (n.5869+3182A=) | |
| 2 | g.21007552T>A | CA345990568 | APOB | c.9316A>T (p.Asn3106Tyr) c.5869+3181A>T (n.5869+3181A>T) | dbSNP |
| 2 | g.21007552T>C | CA345990569 | APOB | c.9316A>G (p.Asn3106Asp) c.5869+3181A>G (n.5869+3181A>G) | |
| 2 | g.21007552T>G | CA345990570 | APOB | c.9316A>C (p.Asn3106His) c.5869+3181A>C (n.5869+3181A>C) | |
| 2 | g.21007553T>A | CA425343894 | APOB | c.9315A>T (p.Gly3105=) c.5869+3180A>T (n.5869+3180A>T) | |
| 2 | g.21007553T>C | CA425343895 | APOB | c.9315A>G (p.Gly3105=) c.5869+3180A>G (n.5869+3180A>G) | |
| 2 | g.21007553T>G | CA425343896 | APOB | c.9315A>C (p.Gly3105=) c.5869+3180A>C (n.5869+3180A>C) | |
| 2 | g.21007554C>A | CA345990571 | APOB | c.9314G>T (p.Gly3105Val) c.5869+3179G>T (n.5869+3179G>T) | |
| 2 | g.21007554C= | CA2493475324 | APOB | c.9314G= (p.Gly3105=) c.5869+3179G= (n.5869+3179G=) | |
| 2 | g.21007554C>G | CA345990572 | APOB | c.9314G>C (p.Gly3105Ala) c.5869+3179G>C (n.5869+3179G>C) | |
| 2 | g.21007554C>T | CA43497891 | APOB | c.9314G>A (p.Gly3105Glu) c.5869+3179G>A (n.5869+3179G>A) | dbSNP COSMIC |
| 2 | g.21007555C>A | CA345990573 | APOB | c.9313G>T (p.Gly3105Ter) c.5869+3178G>T (n.5869+3178G>T) | |
| 2 | g.21007555C>G | CA345990574 | APOB | c.9313G>C (p.Gly3105Arg) c.5869+3178G>C (n.5869+3178G>C) | |
| 2 | g.21007555C>T | CA345990575 | APOB | c.9313G>A (p.Gly3105Arg) c.5869+3178G>A (n.5869+3178G>A) | gnomAD v4 |
| 2 | g.21007556A>C | CA425343903 | APOB | c.9312T>G (p.Ala3104=) c.5869+3177T>G (n.5869+3177T>G) | |
| 2 | g.21007556A>G | CA425343904 | APOB | c.9312T>C (p.Ala3104=) c.5869+3177T>C (n.5869+3177T>C) | |
| 2 | g.21007556A>T | CA425343905 | APOB | c.9312T>A (p.Ala3104=) c.5869+3177T>A (n.5869+3177T>A) | dbSNP |
| 2 | g.21007557G>A | CA345990576 | APOB | c.9311C>T (p.Ala3104Val) c.5869+3176C>T (n.5869+3176C>T) | |
| 2 | g.21007557G>C | CA345990577 | APOB | c.9311C>G (p.Ala3104Gly) c.5869+3176C>G (n.5869+3176C>G) | |
| 2 | g.21007557G>T | CA345990578 | APOB | c.9311C>A (p.Ala3104Asp) c.5869+3176C>A (n.5869+3176C>A) | |
| 2 | g.21007558C>A | CA345990579 | APOB | c.9310G>T (p.Ala3104Ser) c.5869+3175G>T (n.5869+3175G>T) | gnomAD v4 |
| 2 | g.21007558C>G | CA345990580 | APOB | c.9310G>C (p.Ala3104Pro) c.5869+3175G>C (n.5869+3175G>C) | |
| 2 | g.21007558C>T | CA345990581 | APOB | c.9310G>A (p.Ala3104Thr) c.5869+3175G>A (n.5869+3175G>A) | |
| 2 | g.21007559A>C | CA425343909 | APOB | c.9309T>G (p.Ser3103=) c.5869+3174T>G (n.5869+3174T>G) | |
| 2 | g.21007559A>G | CA425343911 | APOB | c.9309T>C (p.Ser3103=) c.5869+3174T>C (n.5869+3174T>C) | |
| 2 | g.21007559A>T | CA425343913 | APOB | c.9309T>A (p.Ser3103=) c.5869+3174T>A (n.5869+3174T>A) | |
| 2 | g.21007560G>A | CA345990582 | APOB | c.9308C>T (p.Ser3103Phe) c.5869+3173C>T (n.5869+3173C>T) | |
| 2 | g.21007560G>C | CA345990583 | APOB | c.9308C>G (p.Ser3103Cys) c.5869+3173C>G (n.5869+3173C>G) | dbSNP |
| 2 | g.21007560G= | CA2493475325 | APOB | c.9308C= (p.Ser3103=) c.5869+3173C= (n.5869+3173C=) | |
| 2 | g.21007560G>T | CA345990584 | APOB | c.9308C>A (p.Ser3103Tyr) c.5869+3173C>A (n.5869+3173C>A) | |
| 2 | g.21007561A>C | CA345990586 | APOB | c.9307T>G (p.Ser3103Ala) c.5869+3172T>G (n.5869+3172T>G) | COSMIC |
| 2 | g.21007561A>G | CA345990587 | APOB | c.9307T>C (p.Ser3103Pro) c.5869+3172T>C (n.5869+3172T>C) | |
| 2 | g.21007561A>T | CA345990585 | APOB | c.9307T>A (p.Ser3103Thr) c.5869+3172T>A (n.5869+3172T>A) | |
| 2 | g.21007562G>A | CA425343916 | APOB | c.9306C>T (p.Phe3102=) c.5869+3171C>T (n.5869+3171C>T) | |
| 2 | g.21007562G>C | CA345990588 | APOB | c.9306C>G (p.Phe3102Leu) c.5869+3171C>G (n.5869+3171C>G) | |
| 2 | g.21007562G>T | CA345990589 | APOB | c.9306C>A (p.Phe3102Leu) c.5869+3171C>A (n.5869+3171C>A) | gnomAD v4 COSMIC |
| 2 | g.21007563A>C | CA345990590 | APOB | c.9305T>G (p.Phe3102Cys) c.5869+3170T>G (n.5869+3170T>G) | |
| 2 | g.21007563A>G | CA345990591 | APOB | c.9305T>C (p.Phe3102Ser) c.5869+3170T>C (n.5869+3170T>C) | |
| 2 | g.21007563A>T | CA345990592 | APOB | c.9305T>A (p.Phe3102Tyr) c.5869+3170T>A (n.5869+3170T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21007564A>C | CA345990595 | APOB | c.9304T>G (p.Phe3102Val) c.5869+3169T>G (n.5869+3169T>G) | |
| 2 | g.21007564A>G | CA345990593 | APOB | c.9304T>C (p.Phe3102Leu) c.5869+3169T>C (n.5869+3169T>C) | |
| 2 | g.21007564A>T | CA345990594 | APOB | c.9304T>A (p.Phe3102Ile) c.5869+3169T>A (n.5869+3169T>A) | |
| 2 | g.21007565A>C | CA345990596 | APOB | c.9303T>G (p.Asn3101Lys) c.5869+3168T>G (n.5869+3168T>G) | gnomAD v4 |
| 2 | g.21007565A>G | CA425343923 | APOB | c.9303T>C (p.Asn3101=) c.5869+3168T>C (n.5869+3168T>C) | |
| 2 | g.21007565A>T | CA345990597 | APOB | c.9303T>A (p.Asn3101Lys) c.5869+3168T>A (n.5869+3168T>A) | |
| 2 | g.21007566T>A | CA345990598 | APOB | c.9302A>T (p.Asn3101Ile) c.5869+3167A>T (n.5869+3167A>T) | |
| 2 | g.21007566T>C | CA345990599 | APOB | c.9302A>G (p.Asn3101Ser) c.5869+3167A>G (n.5869+3167A>G) | |
| 2 | g.21007566T>G | CA345990600 | APOB | c.9302A>C (p.Asn3101Thr) c.5869+3167A>C (n.5869+3167A>C) | |
| 2 | g.21007567T>A | CA345990601 | APOB | c.9301A>T (p.Asn3101Tyr) c.5869+3166A>T (n.5869+3166A>T) | |
| 2 | g.21007567T>C | CA345990603 | APOB | c.9301A>G (p.Asn3101Asp) c.5869+3166A>G (n.5869+3166A>G) | |
| 2 | g.21007567T>G | CA345990602 | APOB | c.9301A>C (p.Asn3101His) c.5869+3166A>C (n.5869+3166A>C) | |
| 2 | g.21007568T>A | CA345990604 | APOB | c.9300A>T (p.Gln3100His) c.5869+3165A>T (n.5869+3165A>T) | |
| 2 | g.21007568T>C | CA425343926 | APOB | c.9300A>G (p.Gln3100=) c.5869+3165A>G (n.5869+3165A>G) | |
| 2 | g.21007568T>G | CA345990605 | APOB | c.9300A>C (p.Gln3100His) c.5869+3165A>C (n.5869+3165A>C) | |
| 2 | g.21007569T>A | CA345990606 | APOB | c.9299A>T (p.Gln3100Leu) c.5869+3164A>T (n.5869+3164A>T) | |
| 2 | g.21007569T>C | CA345990607 | APOB | c.9299A>G (p.Gln3100Arg) c.5869+3164A>G (n.5869+3164A>G) | gnomAD v4 |
| 2 | g.21007569T>G | CA345990608 | APOB | c.9299A>C (p.Gln3100Pro) c.5869+3164A>C (n.5869+3164A>C) | |
| 2 | g.21007570G>A | CA345990609 | APOB | c.9298C>T (p.Gln3100Ter) c.5869+3163C>T (n.5869+3163C>T) | |
| 2 | g.21007570G>C | CA066437 | APOB | c.9298C>G (p.Gln3100Glu) c.5869+3163C>G (n.5869+3163C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007570G= | CA2493475326 | APOB | c.9298C= (p.Gln3100=) c.5869+3163C= (n.5869+3163C=) | |
| 2 | g.21007570G>T | CA066434 | APOB | c.9298C>A (p.Gln3100Lys) c.5869+3163C>A (n.5869+3163C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |