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.21007581_21007582dup | CA2658076740 | APOB | c.9288_9289dup (p.Lys3097IlefsTer20) c.5869+3153_5869+3154dup (n.5869+3153_5869+3154dup) | gnomAD v4 |
| 2 | g.21007580A>C | CA345990633 | APOB | c.9288T>G (p.Tyr3096Ter) c.5869+3153T>G (n.5869+3153T>G) | gnomAD v4 |
| 2 | g.21007580A>G | CA425343946 | APOB | c.9288T>C (p.Tyr3096=) c.5869+3153T>C (n.5869+3153T>C) | dbSNP gnomAD v4 |
| 2 | g.21007580A>T | CA345990634 | APOB | c.9288T>A (p.Tyr3096Ter) c.5869+3153T>A (n.5869+3153T>A) | |
| 2 | g.21007581del | CA2576686516 | APOB | c.9287del (p.Tyr3096LeufsTer20) c.5869+3152del (n.5869+3152del) | |
| 2 | g.21007581T>A | CA345990635 | APOB | c.9287A>T (p.Tyr3096Phe) c.5869+3152A>T (n.5869+3152A>T) | |
| 2 | g.21007581T>C | CA345990636 | APOB | c.9287A>G (p.Tyr3096Cys) c.5869+3152A>G (n.5869+3152A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007581T>G | CA345990637 | APOB | c.9287A>C (p.Tyr3096Ser) c.5869+3152A>C (n.5869+3152A>C) | |
| 2 | g.21007581T= | CA2493475332 | APOB | c.9287A= (p.Tyr3096=) c.5869+3152A= (n.5869+3152A=) | |
| 2 | g.21007582A>C | CA345990638 | APOB | c.9286T>G (p.Tyr3096Asp) c.5869+3151T>G (n.5869+3151T>G) | |
| 2 | g.21007582A>G | CA345990639 | APOB | c.9286T>C (p.Tyr3096His) c.5869+3151T>C (n.5869+3151T>C) | |
| 2 | g.21007582A>T | CA345990640 | APOB | c.9286T>A (p.Tyr3096Asn) c.5869+3151T>A (n.5869+3151T>A) | |
| 2 | g.21007583C>A | CA345990641 | APOB | c.9285G>T (p.Gln3095His) c.5869+3150G>T (n.5869+3150G>T) | |
| 2 | g.21007583C= | CA2493475333 | APOB | c.9285G= (p.Gln3095=) c.5869+3150G= (n.5869+3150G=) | |
| 2 | g.21007583C>G | CA345990642 | APOB | c.9285G>C (p.Gln3095His) c.5869+3150G>C (n.5869+3150G>C) | dbSNP gnomAD v4 |
| 2 | g.21007583C>T | CA425343950 | APOB | c.9285G>A (p.Gln3095=) c.5869+3150G>A (n.5869+3150G>A) | dbSNP gnomAD v4 |
| 2 | g.21007584T>A | CA345990644 | APOB | c.9284A>T (p.Gln3095Leu) c.5869+3149A>T (n.5869+3149A>T) | |
| 2 | g.21007584T>C | CA066429 | APOB | c.9284A>G (p.Gln3095Arg) c.5869+3149A>G (n.5869+3149A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.21007584T>G | CA345990643 | APOB | c.9284A>C (p.Gln3095Pro) c.5869+3149A>C (n.5869+3149A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21007584T= | CA2493475334 | APOB | c.9284A= (p.Gln3095=) c.5869+3149A= (n.5869+3149A=) | |
| 2 | g.21007585G>A | CA345990645 | APOB | c.9283C>T (p.Gln3095Ter) c.5869+3148C>T (n.5869+3148C>T) | COSMIC |
| 2 | g.21007585G>C | CA345990646 | APOB | c.9283C>G (p.Gln3095Glu) c.5869+3148C>G (n.5869+3148C>G) | |
| 2 | g.21007585G>T | CA345990647 | APOB | c.9283C>A (p.Gln3095Lys) c.5869+3148C>A (n.5869+3148C>A) | |
| 2 | g.21007586A>C | CA345990648 | APOB | c.9282T>G (p.Asn3094Lys) c.5869+3147T>G (n.5869+3147T>G) | |
| 2 | g.21007586A>G | CA425343953 | APOB | c.9282T>C (p.Asn3094=) c.5869+3147T>C (n.5869+3147T>C) | |
| 2 | g.21007586A>T | CA345990649 | APOB | c.9282T>A (p.Asn3094Lys) c.5869+3147T>A (n.5869+3147T>A) | |
| 2 | g.21007587T>A | CA345990650 | APOB | c.9281A>T (p.Asn3094Ile) c.5869+3146A>T (n.5869+3146A>T) | |
| 2 | g.21007587T>C | CA345990651 | APOB | c.9281A>G (p.Asn3094Ser) c.5869+3146A>G (n.5869+3146A>G) | |
| 2 | g.21007587T>G | CA345990652 | APOB | c.9281A>C (p.Asn3094Thr) c.5869+3146A>C (n.5869+3146A>C) | gnomAD v4 |
| 2 | g.21007588T>A | CA345990653 | APOB | c.9280A>T (p.Asn3094Tyr) c.5869+3145A>T (n.5869+3145A>T) | |
| 2 | g.21007588T>C | CA345990654 | APOB | c.9280A>G (p.Asn3094Asp) c.5869+3145A>G (n.5869+3145A>G) | |
| 2 | g.21007588T>G | CA345990655 | APOB | c.9280A>C (p.Asn3094His) c.5869+3145A>C (n.5869+3145A>C) | |
| 2 | g.21007589G>A | CA425343958 | APOB | c.9279C>T (p.Phe3093=) c.5869+3144C>T (n.5869+3144C>T) | gnomAD v4 |
| 2 | g.21007589G>C | CA345990656 | APOB | c.9279C>G (p.Phe3093Leu) c.5869+3144C>G (n.5869+3144C>G) | |
| 2 | g.21007589G= | CA2493475335 | APOB | c.9279C= (p.Phe3093=) c.5869+3144C= (n.5869+3144C=) | |
| 2 | g.21007589G>T | CA066425 | APOB | c.9279C>A (p.Phe3093Leu) c.5869+3144C>A (n.5869+3144C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007590A>C | CA345990658 | APOB | c.9278T>G (p.Phe3093Cys) c.5869+3143T>G (n.5869+3143T>G) | |
| 2 | g.21007590A>G | CA345990659 | APOB | c.9278T>C (p.Phe3093Ser) c.5869+3143T>C (n.5869+3143T>C) | |
| 2 | g.21007590A>T | CA345990657 | APOB | c.9278T>A (p.Phe3093Tyr) c.5869+3143T>A (n.5869+3143T>A) | |
| 2 | g.21007591A>C | CA345990661 | APOB | c.9277T>G (p.Phe3093Val) c.5869+3142T>G (n.5869+3142T>G) | |
| 2 | g.21007591A>G | CA345990660 | APOB | c.9277T>C (p.Phe3093Leu) c.5869+3142T>C (n.5869+3142T>C) | |
| 2 | g.21007591A>T | CA345990662 | APOB | c.9277T>A (p.Phe3093Ile) c.5869+3142T>A (n.5869+3142T>A) | |
| 2 | g.21007592C>A | CA345990663 | APOB | c.9276G>T (p.Arg3092Ser) c.5869+3141G>T (n.5869+3141G>T) | ClinVar gnomAD v4 |
| 2 | g.21007592C= | CA2493475336 | APOB | c.9276G= (p.Arg3092=) c.5869+3141G= (n.5869+3141G=) | |
| 2 | g.21007592C>G | CA345990664 | APOB | c.9276G>C (p.Arg3092Ser) c.5869+3141G>C (n.5869+3141G>C) | |
| 2 | g.21007592C>T | CA066420 | APOB | c.9276G>A (p.Arg3092=) c.5869+3141G>A (n.5869+3141G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007593C>A | CA345990665 | APOB | c.9275G>T (p.Arg3092Met) c.5869+3140G>T (n.5869+3140G>T) | |
| 2 | g.21007593C= | CA2493475337 | APOB | c.9275G= (p.Arg3092=) c.5869+3140G= (n.5869+3140G=) | |
| 2 | g.21007593C>G | CA345990667 | APOB | c.9275G>C (p.Arg3092Thr) c.5869+3140G>C (n.5869+3140G>C) | |
| 2 | g.21007593C>T | CA345990666 | APOB | c.9275G>A (p.Arg3092Lys) c.5869+3140G>A (n.5869+3140G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21007594T>A | CA345990668 | APOB | c.9274A>T (p.Arg3092Trp) c.5869+3139A>T (n.5869+3139A>T) | |
| 2 | g.21007594T>C | CA345990669 | APOB | c.9274A>G (p.Arg3092Gly) c.5869+3139A>G (n.5869+3139A>G) | |
| 2 | g.21007594T>G | CA425343962 | APOB | c.9274A>C (p.Arg3092=) c.5869+3139A>C (n.5869+3139A>C) | |
| 2 | g.21007595A>C | CA425343964 | APOB | c.9273T>G (p.Ala3091=) c.5869+3138T>G (n.5869+3138T>G) | |
| 2 | g.21007595A>G | CA425343965 | APOB | c.9273T>C (p.Ala3091=) c.5869+3138T>C (n.5869+3138T>C) | |
| 2 | g.21007595A>T | CA425343966 | APOB | c.9273T>A (p.Ala3091=) c.5869+3138T>A (n.5869+3138T>A) | |
| 2 | g.21007596G>A | CA345990670 | APOB | c.9272C>T (p.Ala3091Val) c.5869+3137C>T (n.5869+3137C>T) | |
| 2 | g.21007596G>C | CA345990671 | APOB | c.9272C>G (p.Ala3091Gly) c.5869+3137C>G (n.5869+3137C>G) | |
| 2 | g.21007596G>T | CA345990672 | APOB | c.9272C>A (p.Ala3091Asp) c.5869+3137C>A (n.5869+3137C>A) | |
| 2 | g.21007597C>A | CA345990673 | APOB | c.9271G>T (p.Ala3091Ser) c.5869+3136G>T (n.5869+3136G>T) | |
| 2 | g.21007597C= | CA2493475338 | APOB | c.9271G= (p.Ala3091=) c.5869+3136G= (n.5869+3136G=) | |
| 2 | g.21007597C>G | CA345990674 | APOB | c.9271G>C (p.Ala3091Pro) c.5869+3136G>C (n.5869+3136G>C) | |
| 2 | g.21007597C>T | CA43497949 | APOB | c.9271G>A (p.Ala3091Thr) c.5869+3136G>A (n.5869+3136G>A) | dbSNP |
| 2 | g.21007597_21007601delinsCACTT | CA2493475339 | APOB | c.9267_9271delinsAAGTG (p.Val3089=) c.5869+3132_5869+3136delinsAAGTG (n.5869+3132_5869+3136delinsAAGTG) | |
| 2 | g.21007598A= | CA2493475341 | APOB | c.9270T= (p.Ser3090=) c.5869+3135T= (n.5869+3135T=) | |
| 2 | g.21007598A>C | CA345990675 | APOB | c.9270T>G (p.Ser3090Arg) c.5869+3135T>G (n.5869+3135T>G) | dbSNP gnomAD v3 |
| 2 | g.21007598A>G | CA425343969 | APOB | c.9270T>C (p.Ser3090=) c.5869+3135T>C (n.5869+3135T>C) | |
| 2 | g.21007598A>T | CA345990676 | APOB | c.9270T>A (p.Ser3090Arg) c.5869+3135T>A (n.5869+3135T>A) | |
| 2 | g.21007602_21007605del | CA2493475340 | APOB | c.9267_9270del (p.Ser3090LeufsTer25) c.5869+3132_5869+3135del (n.5869+3132_5869+3135del) | dbSNP gnomAD v4 |
| 2 | g.21007599C>A | CA345990679 | APOB | c.9269G>T (p.Ser3090Ile) c.5869+3134G>T (n.5869+3134G>T) | |
| 2 | g.21007599C>G | CA345990678 | APOB | c.9269G>C (p.Ser3090Thr) c.5869+3134G>C (n.5869+3134G>C) | |
| 2 | g.21007599C>T | CA345990677 | APOB | c.9269G>A (p.Ser3090Asn) c.5869+3134G>A (n.5869+3134G>A) | |
| 2 | g.21007600T>A | CA345990680 | APOB | c.9268A>T (p.Ser3090Cys) c.5869+3133A>T (n.5869+3133A>T) | |
| 2 | g.21007600T>C | CA345990681 | APOB | c.9268A>G (p.Ser3090Gly) c.5869+3133A>G (n.5869+3133A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21007600T>G | CA345990682 | APOB | c.9268A>C (p.Ser3090Arg) c.5869+3133A>C (n.5869+3133A>C) | |
| 2 | g.21007600T= | CA2493475342 | APOB | c.9268A= (p.Ser3090=) c.5869+3133A= (n.5869+3133A=) | |
| 2 | g.21007601T>A | CA425343974 | APOB | c.9267A>T (p.Val3089=) c.5869+3132A>T (n.5869+3132A>T) | |
| 2 | g.21007601T>C | CA425343976 | APOB | c.9267A>G (p.Val3089=) c.5869+3132A>G (n.5869+3132A>G) | |
| 2 | g.21007601T>G | CA425343977 | APOB | c.9267A>C (p.Val3089=) c.5869+3132A>C (n.5869+3132A>C) | |
| 2 | g.21007602A>C | CA345990683 | APOB | c.9266T>G (p.Val3089Gly) c.5869+3131T>G (n.5869+3131T>G) | |
| 2 | g.21007602A>G | CA345990684 | APOB | c.9266T>C (p.Val3089Ala) c.5869+3131T>C (n.5869+3131T>C) | |
| 2 | g.21007602A>T | CA345990685 | APOB | c.9266T>A (p.Val3089Glu) c.5869+3131T>A (n.5869+3131T>A) | |
| 2 | g.21007603C>A | CA345990686 | APOB | c.9265G>T (p.Val3089Leu) c.5869+3130G>T (n.5869+3130G>T) | dbSNP |
| 2 | g.21007603C= | CA2493475343 | APOB | c.9265G= (p.Val3089=) c.5869+3130G= (n.5869+3130G=) | |
| 2 | g.21007603C>G | CA345990687 | APOB | c.9265G>C (p.Val3089Leu) c.5869+3130G>C (n.5869+3130G>C) | dbSNP |
| 2 | g.21007603C>T | CA345990688 | APOB | c.9265G>A (p.Val3089Ile) c.5869+3130G>A (n.5869+3130G>A) | |
| 2 | g.21007604T>A | CA345990689 | APOB | c.9264A>T (p.Gln3088His) c.5869+3129A>T (n.5869+3129A>T) | |
| 2 | g.21007604T>C | CA425343982 | APOB | c.9264A>G (p.Gln3088=) c.5869+3129A>G (n.5869+3129A>G) | |
| 2 | g.21007604T>G | CA345990690 | APOB | c.9264A>C (p.Gln3088His) c.5869+3129A>C (n.5869+3129A>C) | |
| 2 | g.21007605T>A | CA345990692 | APOB | c.9263A>T (p.Gln3088Leu) c.5869+3128A>T (n.5869+3128A>T) | |
| 2 | g.21007605T>C | CA345990693 | APOB | c.9263A>G (p.Gln3088Arg) c.5869+3128A>G (n.5869+3128A>G) | gnomAD v4 |
| 2 | g.21007605T>G | CA345990691 | APOB | c.9263A>C (p.Gln3088Pro) c.5869+3128A>C (n.5869+3128A>C) | |
| 2 | g.21007606G>A | CA345990694 | APOB | c.9262C>T (p.Gln3088Ter) c.5869+3127C>T (n.5869+3127C>T) | COSMIC |
| 2 | g.21007606G>C | CA345990695 | APOB | c.9262C>G (p.Gln3088Glu) c.5869+3127C>G (n.5869+3127C>G) | |
| 2 | g.21007606G= | CA2493475344 | APOB | c.9262C= (p.Gln3088=) c.5869+3127C= (n.5869+3127C=) | |
| 2 | g.21007606G>T | CA345990696 | APOB | c.9262C>A (p.Gln3088Lys) c.5869+3127C>A (n.5869+3127C>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21007607C>A | CA345990697 | APOB | c.9261G>T (p.Trp3087Cys) c.5869+3126G>T (n.5869+3126G>T) | COSMIC |
| 2 | g.21007607C>G | CA345990698 | APOB | c.9261G>C (p.Trp3087Cys) c.5869+3126G>C (n.5869+3126G>C) | |
| 2 | g.21007607C>T | CA345990699 | APOB | c.9261G>A (p.Trp3087Ter) c.5869+3126G>A (n.5869+3126G>A) | |
| 2 | g.21007608C>A | CA345990700 | APOB | c.9260G>T (p.Trp3087Leu) c.5869+3125G>T (n.5869+3125G>T) | COSMIC |
| 2 | g.21007608C= | CA2493475345 | APOB | c.9260G= (p.Trp3087=) c.5869+3125G= (n.5869+3125G=) | |
| 2 | g.21007608C>G | CA345990701 | APOB | c.9260G>C (p.Trp3087Ser) c.5869+3125G>C (n.5869+3125G>C) | |
| 2 | g.21007608C>T | CA066417 | APOB | c.9260G>A (p.Trp3087Ter) c.5869+3125G>A (n.5869+3125G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007609A>C | CA345990702 | APOB | c.9259T>G (p.Trp3087Gly) c.5869+3124T>G (n.5869+3124T>G) | |
| 2 | g.21007609A>G | CA345990703 | APOB | c.9259T>C (p.Trp3087Arg) c.5869+3124T>C (n.5869+3124T>C) | |
| 2 | g.21007609A>T | CA345990704 | APOB | c.9259T>A (p.Trp3087Arg) c.5869+3124T>A (n.5869+3124T>A) | |
| 2 | g.21007610A= | CA2493475346 | APOB | c.9258T= (p.Ser3086=) c.5869+3123T= (n.5869+3123T=) | |
| 2 | g.21007610A>C | CA345990706 | APOB | c.9258T>G (p.Ser3086Arg) c.5869+3123T>G (n.5869+3123T>G) | |
| 2 | g.21007610A>G | CA066409 | APOB | c.9258T>C (p.Ser3086=) c.5869+3123T>C (n.5869+3123T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007610A>T | CA345990705 | APOB | c.9258T>A (p.Ser3086Arg) c.5869+3123T>A (n.5869+3123T>A) | |
| 2 | g.21007610_21007614delinsACTTG | CA2493475347 | APOB | c.9254_9258delinsCAAGT (p.Ala3085=) c.5869+3119_5869+3123delinsCAAGT (n.5869+3119_5869+3123delinsCAAGT) | |
| 2 | g.21007611C>A | CA345990707 | APOB | c.9257G>T (p.Ser3086Ile) c.5869+3122G>T (n.5869+3122G>T) | |
| 2 | g.21007611C= | CA2493475348 | APOB | c.9257G= (p.Ser3086=) c.5869+3122G= (n.5869+3122G=) | |
| 2 | g.21007611C>G | CA345990708 | APOB | c.9257G>C (p.Ser3086Thr) c.5869+3122G>C (n.5869+3122G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007611C>T | CA345990709 | APOB | c.9257G>A (p.Ser3086Asn) c.5869+3122G>A (n.5869+3122G>A) | |
| 2 | g.21007617_21007620del | CA531312738 | APOB | c.9254_9257del (p.Ala3085ValfsTer4) c.5869+3119_5869+3122del (n.5869+3119_5869+3122del) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21007612T>A | CA345990710 | APOB | c.9256A>T (p.Ser3086Cys) c.5869+3121A>T (n.5869+3121A>T) | |
| 2 | g.21007612T>C | CA345990711 | APOB | c.9256A>G (p.Ser3086Gly) c.5869+3121A>G (n.5869+3121A>G) | |
| 2 | g.21007612T>G | CA345990712 | APOB | c.9256A>C (p.Ser3086Arg) c.5869+3121A>C (n.5869+3121A>C) | |
| 2 | g.21007613T>A | CA425344000 | APOB | c.9255A>T (p.Ala3085=) c.5869+3120A>T (n.5869+3120A>T) | |
| 2 | g.21007613T>C | CA43497956 | APOB | c.9255A>G (p.Ala3085=) c.5869+3120A>G (n.5869+3120A>G) | dbSNP gnomAD v4 |
| 2 | g.21007613T>G | CA425344002 | APOB | c.9255A>C (p.Ala3085=) c.5869+3120A>C (n.5869+3120A>C) | |
| 2 | g.21007613T= | CA2493475349 | APOB | c.9255A= (p.Ala3085=) c.5869+3120A= (n.5869+3120A=) | |
| 2 | g.21007614G>A | CA345990713 | APOB | c.9254C>T (p.Ala3085Val) c.5869+3119C>T (n.5869+3119C>T) | |
| 2 | g.21007614G>C | CA345990714 | APOB | c.9254C>G (p.Ala3085Gly) c.5869+3119C>G (n.5869+3119C>G) | |
| 2 | g.21007614G>T | CA345990715 | APOB | c.9254C>A (p.Ala3085Glu) c.5869+3119C>A (n.5869+3119C>A) | |
| 2 | g.21007615C>A | CA345990716 | APOB | c.9253G>T (p.Ala3085Ser) c.5869+3118G>T (n.5869+3118G>T) | |
| 2 | g.21007615C>G | CA345990717 | APOB | c.9253G>C (p.Ala3085Pro) c.5869+3118G>C (n.5869+3118G>C) | |
| 2 | g.21007615C>T | CA345990718 | APOB | c.9253G>A (p.Ala3085Thr) c.5869+3118G>A (n.5869+3118G>A) | |
| 2 | g.21007616T>A | CA345990719 | APOB | c.9252A>T (p.Gln3084His) c.5869+3117A>T (n.5869+3117A>T) | |
| 2 | g.21007616T>C | CA43497959 | APOB | c.9252A>G (p.Gln3084=) c.5869+3117A>G (n.5869+3117A>G) | ClinVar dbSNP |
| 2 | g.21007616T>G | CA345990720 | APOB | c.9252A>C (p.Gln3084His) c.5869+3117A>C (n.5869+3117A>C) | gnomAD v4 |
| 2 | g.21007616T= | CA2493475350 | APOB | c.9252A= (p.Gln3084=) c.5869+3117A= (n.5869+3117A=) | |
| 2 | g.21007617T>A | CA345990721 | APOB | c.9251A>T (p.Gln3084Leu) c.5869+3116A>T (n.5869+3116A>T) | |
| 2 | g.21007617T>C | CA345990723 | APOB | c.9251A>G (p.Gln3084Arg) c.5869+3116A>G (n.5869+3116A>G) | |
| 2 | g.21007617T>G | CA345990722 | APOB | c.9251A>C (p.Gln3084Pro) c.5869+3116A>C (n.5869+3116A>C) | dbSNP gnomAD v4 |
| 2 | g.21007617T= | CA2493475351 | APOB | c.9251A= (p.Gln3084=) c.5869+3116A= (n.5869+3116A=) | |
| 2 | g.21007618G>A | CA345990724 | APOB | c.9250C>T (p.Gln3084Ter) c.5869+3115C>T (n.5869+3115C>T) | |
| 2 | g.21007618G>C | CA345990725 | APOB | c.9250C>G (p.Gln3084Glu) c.5869+3115C>G (n.5869+3115C>G) | |
| 2 | g.21007618G>T | CA345990726 | APOB | c.9250C>A (p.Gln3084Lys) c.5869+3115C>A (n.5869+3115C>A) | |
| 2 | g.21007620_21007624del | CA2658076741 | APOB | c.9246_9250del (p.Gln3083SerfsTer8) c.5869+3111_5869+3115del (n.5869+3111_5869+3115del) | gnomAD v4 |
| 2 | g.21007619C>A | CA345990727 | APOB | c.9249G>T (p.Gln3083His) c.5869+3114G>T (n.5869+3114G>T) | |
| 2 | g.21007619C= | CA2493475352 | APOB | c.9249G= (p.Gln3083=) c.5869+3114G= (n.5869+3114G=) | |
| 2 | g.21007619C>G | CA345990728 | APOB | c.9249G>C (p.Gln3083His) c.5869+3114G>C (n.5869+3114G>C) | dbSNP |
| 2 | g.21007619C>T | CA425344103 | APOB | c.9249G>A (p.Gln3083=) c.5869+3114G>A (n.5869+3114G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21007620T>A | CA345990729 | APOB | c.9248A>T (p.Gln3083Leu) c.5869+3113A>T (n.5869+3113A>T) | |
| 2 | g.21007620T>C | CA345990730 | APOB | c.9248A>G (p.Gln3083Arg) c.5869+3113A>G (n.5869+3113A>G) | dbSNP gnomAD v2 |
| 2 | g.21007620T>G | CA345990731 | APOB | c.9248A>C (p.Gln3083Pro) c.5869+3113A>C (n.5869+3113A>C) | |
| 2 | g.21007620T= | CA2493475353 | APOB | c.9248A= (p.Gln3083=) c.5869+3113A= (n.5869+3113A=) | |
| 2 | g.21007621G>A | CA345990732 | APOB | c.9247C>T (p.Gln3083Ter) c.5869+3112C>T (n.5869+3112C>T) | |
| 2 | g.21007621G>C | CA345990733 | APOB | c.9247C>G (p.Gln3083Glu) c.5869+3112C>G (n.5869+3112C>G) | |
| 2 | g.21007621G>T | CA345990734 | APOB | c.9247C>A (p.Gln3083Lys) c.5869+3112C>A (n.5869+3112C>A) | |
| 2 | g.21007622G>A | CA425344105 | APOB | c.9246C>T (p.Ala3082=) c.5869+3111C>T (n.5869+3111C>T) | |
| 2 | g.21007622G>C | CA425344106 | APOB | c.9246C>G (p.Ala3082=) c.5869+3111C>G (n.5869+3111C>G) | |
| 2 | g.21007622G>T | CA425344107 | APOB | c.9246C>A (p.Ala3082=) c.5869+3111C>A (n.5869+3111C>A) | COSMIC |
| 2 | g.21007623G>A | CA345990737 | APOB | c.9245C>T (p.Ala3082Val) c.5869+3110C>T (n.5869+3110C>T) | |
| 2 | g.21007623G>C | CA345990736 | APOB | c.9245C>G (p.Ala3082Gly) c.5869+3110C>G (n.5869+3110C>G) | dbSNP |
| 2 | g.21007623G= | CA2493475354 | APOB | c.9245C= (p.Ala3082=) c.5869+3110C= (n.5869+3110C=) | |
| 2 | g.21007623G>T | CA345990735 | APOB | c.9245C>A (p.Ala3082Asp) c.5869+3110C>A (n.5869+3110C>A) | gnomAD v4 |
| 2 | g.21007624C>A | CA345990738 | APOB | c.9244G>T (p.Ala3082Ser) c.5869+3109G>T (n.5869+3109G>T) | |
| 2 | g.21007624C>G | CA345990739 | APOB | c.9244G>C (p.Ala3082Pro) c.5869+3109G>C (n.5869+3109G>C) | |
| 2 | g.21007624C>T | CA345990740 | APOB | c.9244G>A (p.Ala3082Thr) c.5869+3109G>A (n.5869+3109G>A) | |
| 2 | g.21007625A>C | CA345990741 | APOB | c.9243T>G (p.Ser3081Arg) c.5869+3108T>G (n.5869+3108T>G) | |
| 2 | g.21007625A>G | CA425344110 | APOB | c.9243T>C (p.Ser3081=) c.5869+3108T>C (n.5869+3108T>C) | |
| 2 | g.21007625A>T | CA345990742 | APOB | c.9243T>A (p.Ser3081Arg) c.5869+3108T>A (n.5869+3108T>A) | |
| 2 | g.21007625_21007626insAGTTT | CA2658076742 | APOB | c.9242_9243insAAACT (p.Ser3081ArgfsTer11) c.5869+3107_5869+3108insAAACT (n.5869+3107_5869+3108insAAACT) | gnomAD v4 |
| 2 | g.21007626C>A | CA066404 | APOB | c.9242G>T (p.Ser3081Ile) c.5869+3107G>T (n.5869+3107G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007626C= | CA2493475355 | APOB | c.9242G= (p.Ser3081=) c.5869+3107G= (n.5869+3107G=) | |
| 2 | g.21007626C>G | CA066401 | APOB | c.9242G>C (p.Ser3081Thr) c.5869+3107G>C (n.5869+3107G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007626C>T | CA066399 | APOB | c.9242G>A (p.Ser3081Asn) c.5869+3107G>A (n.5869+3107G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007627T>A | CA345990743 | APOB | c.9241A>T (p.Ser3081Cys) c.5869+3106A>T (n.5869+3106A>T) | |
| 2 | g.21007627T>C | CA345990744 | APOB | c.9241A>G (p.Ser3081Gly) c.5869+3106A>G (n.5869+3106A>G) | |
| 2 | g.21007627T>G | CA345990745 | APOB | c.9241A>C (p.Ser3081Arg) c.5869+3106A>C (n.5869+3106A>C) | |
| 2 | g.21007628G>A | CA425344114 | APOB | c.9240C>T (p.Pro3080=) c.5869+3105C>T (n.5869+3105C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21007628G>C | CA425344115 | APOB | c.9240C>G (p.Pro3080=) c.5869+3105C>G (n.5869+3105C>G) | dbSNP |
| 2 | g.21007628G= | CA2493475356 | APOB | c.9240C= (p.Pro3080=) c.5869+3105C= (n.5869+3105C=) | |
| 2 | g.21007628G>T | CA425344116 | APOB | c.9240C>A (p.Pro3080=) c.5869+3105C>A (n.5869+3105C>A) | |
| 2 | g.21007629G>A | CA345990748 | APOB | c.9239C>T (p.Pro3080Leu) c.5869+3104C>T (n.5869+3104C>T) | |
| 2 | g.21007629G>C | CA345990747 | APOB | c.9239C>G (p.Pro3080Arg) c.5869+3104C>G (n.5869+3104C>G) | |
| 2 | g.21007629G= | CA2493475357 | APOB | c.9239C= (p.Pro3080=) c.5869+3104C= (n.5869+3104C=) | |
| 2 | g.21007629G>T | CA345990746 | APOB | c.9239C>A (p.Pro3080His) c.5869+3104C>A (n.5869+3104C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21007630G>A | CA345990749 | APOB | c.9238C>T (p.Pro3080Ser) c.5869+3103C>T (n.5869+3103C>T) | |
| 2 | g.21007630G>C | CA345990750 | APOB | c.9238C>G (p.Pro3080Ala) c.5869+3103C>G (n.5869+3103C>G) | |
| 2 | g.21007630G>T | CA345990751 | APOB | c.9238C>A (p.Pro3080Thr) c.5869+3103C>A (n.5869+3103C>A) | |
| 2 | g.21007631A>C | CA345990752 | APOB | c.9237T>G (p.Ser3079Arg) c.5869+3102T>G (n.5869+3102T>G) | |
| 2 | g.21007631A>G | CA425344122 | APOB | c.9237T>C (p.Ser3079=) c.5869+3102T>C (n.5869+3102T>C) | |
| 2 | g.21007631A>T | CA345990753 | APOB | c.9237T>A (p.Ser3079Arg) c.5869+3102T>A (n.5869+3102T>A) | |
| 2 | g.21007632C>A | CA345990754 | APOB | c.9236G>T (p.Ser3079Ile) c.5869+3101G>T (n.5869+3101G>T) | |
| 2 | g.21007632C>G | CA345990755 | APOB | c.9236G>C (p.Ser3079Thr) c.5869+3101G>C (n.5869+3101G>C) | |
| 2 | g.21007632C>T | CA345990756 | APOB | c.9236G>A (p.Ser3079Asn) c.5869+3101G>A (n.5869+3101G>A) | |
| 2 | g.21007633T>A | CA345990757 | APOB | c.9235A>T (p.Ser3079Cys) c.5869+3100A>T (n.5869+3100A>T) | dbSNP gnomAD v4 |
| 2 | g.21007633T>C | CA345990758 | APOB | c.9235A>G (p.Ser3079Gly) c.5869+3100A>G (n.5869+3100A>G) | |
| 2 | g.21007633T>G | CA345990759 | APOB | c.9235A>C (p.Ser3079Arg) c.5869+3100A>C (n.5869+3100A>C) | |
| 2 | g.21007633T= | CA2493475358 | APOB | c.9235A= (p.Ser3079=) c.5869+3100A= (n.5869+3100A=) | |
| 2 | g.21007634C>A | CA425344124 | APOB | c.9234G>T (p.Leu3078=) c.5869+3099G>T (n.5869+3099G>T) | |
| 2 | g.21007634C= | CA2493475359 | APOB | c.9234G= (p.Leu3078=) c.5869+3099G= (n.5869+3099G=) | |
| 2 | g.21007634C>G | CA425344125 | APOB | c.9234G>C (p.Leu3078=) c.5869+3099G>C (n.5869+3099G>C) | gnomAD v4 |
| 2 | g.21007634C>T | CA066396 | APOB | c.9234G>A (p.Leu3078=) c.5869+3099G>A (n.5869+3099G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007635A>C | CA345990762 | APOB | c.9233T>G (p.Leu3078Arg) c.5869+3098T>G (n.5869+3098T>G) | |
| 2 | g.21007635A>G | CA345990761 | APOB | c.9233T>C (p.Leu3078Pro) c.5869+3098T>C (n.5869+3098T>C) | |
| 2 | g.21007635A>T | CA345990760 | APOB | c.9233T>A (p.Leu3078Gln) c.5869+3098T>A (n.5869+3098T>A) | |
| 2 | g.21007636G>A | CA425344132 | APOB | c.9232C>T (p.Leu3078=) c.5869+3097C>T (n.5869+3097C>T) | |
| 2 | g.21007636G>C | CA345990763 | APOB | c.9232C>G (p.Leu3078Val) c.5869+3097C>G (n.5869+3097C>G) | |
| 2 | g.21007636G>T | CA345990764 | APOB | c.9232C>A (p.Leu3078Met) c.5869+3097C>A (n.5869+3097C>A) | |
| 2 | g.21007637A>C | CA345990765 | APOB | c.9231T>G (p.Phe3077Leu) c.5869+3096T>G (n.5869+3096T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21007637A>G | CA425344133 | APOB | c.9231T>C (p.Phe3077=) c.5869+3096T>C (n.5869+3096T>C) | |
| 2 | g.21007637A>T | CA345990766 | APOB | c.9231T>A (p.Phe3077Leu) c.5869+3096T>A (n.5869+3096T>A) | |
| 2 | g.21007638A>C | CA345990767 | APOB | c.9230T>G (p.Phe3077Cys) c.5869+3095T>G (n.5869+3095T>G) | |
| 2 | g.21007638A>G | CA345990768 | APOB | c.9230T>C (p.Phe3077Ser) c.5869+3095T>C (n.5869+3095T>C) | |
| 2 | g.21007638A>T | CA345990769 | APOB | c.9230T>A (p.Phe3077Tyr) c.5869+3095T>A (n.5869+3095T>A) | |
| 2 | g.21007639A>C | CA345990770 | APOB | c.9229T>G (p.Phe3077Val) c.5869+3094T>G (n.5869+3094T>G) | |
| 2 | g.21007639A>G | CA345990771 | APOB | c.9229T>C (p.Phe3077Leu) c.5869+3094T>C (n.5869+3094T>C) | |
| 2 | g.21007639A>T | CA345990772 | APOB | c.9229T>A (p.Phe3077Ile) c.5869+3094T>A (n.5869+3094T>A) | |
| 2 | g.21007640C>A | CA425344140 | APOB | c.9228G>T (p.Leu3076=) c.5869+3093G>T (n.5869+3093G>T) | |
| 2 | g.21007640C>G | CA425344139 | APOB | c.9228G>C (p.Leu3076=) c.5869+3093G>C (n.5869+3093G>C) | |
| 2 | g.21007640C>T | CA425344138 | APOB | c.9228G>A (p.Leu3076=) c.5869+3093G>A (n.5869+3093G>A) | |
| 2 | g.21007641A= | CA2493475360 | APOB | c.9227T= (p.Leu3076=) c.5869+3092T= (n.5869+3092T=) | |
| 2 | g.21007641A>C | CA345990773 | APOB | c.9227T>G (p.Leu3076Arg) c.5869+3092T>G (n.5869+3092T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21007641A>G | CA345990774 | APOB | c.9227T>C (p.Leu3076Pro) c.5869+3092T>C (n.5869+3092T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21007641A>T | CA345990775 | APOB | c.9227T>A (p.Leu3076Gln) c.5869+3092T>A (n.5869+3092T>A) | |
| 2 | g.21007642G>A | CA425344145 | APOB | c.9226C>T (p.Leu3076=) c.5869+3091C>T (n.5869+3091C>T) | gnomAD v4 |
| 2 | g.21007642G>C | CA345990776 | APOB | c.9226C>G (p.Leu3076Val) c.5869+3091C>G (n.5869+3091C>G) | |
| 2 | g.21007642G= | CA2493475361 | APOB | c.9226C= (p.Leu3076=) c.5869+3091C= (n.5869+3091C=) | |
| 2 | g.21007642G>T | CA066393 | APOB | c.9226C>A (p.Leu3076Met) c.5869+3091C>A (n.5869+3091C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007643T>A | CA425344146 | APOB | c.9225A>T (p.Ala3075=) c.5869+3090A>T (n.5869+3090A>T) | |
| 2 | g.21007643T>C | CA425344147 | APOB | c.9225A>G (p.Ala3075=) c.5869+3090A>G (n.5869+3090A>G) | |
| 2 | g.21007643T>G | CA425344148 | APOB | c.9225A>C (p.Ala3075=) c.5869+3090A>C (n.5869+3090A>C) | |
| 2 | g.21007644G>A | CA345990777 | APOB | c.9224C>T (p.Ala3075Val) c.5869+3089C>T (n.5869+3089C>T) | gnomAD v4 |
| 2 | g.21007644G>C | CA345990778 | APOB | c.9224C>G (p.Ala3075Gly) c.5869+3089C>G (n.5869+3089C>G) | |
| 2 | g.21007644G= | CA2493475362 | APOB | c.9224C= (p.Ala3075=) c.5869+3089C= (n.5869+3089C=) | |
| 2 | g.21007644G>T | CA066387 | APOB | c.9224C>A (p.Ala3075Glu) c.5869+3089C>A (n.5869+3089C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007645C>A | CA345990779 | APOB | c.9223G>T (p.Ala3075Ser) c.5869+3088G>T (n.5869+3088G>T) | |
| 2 | g.21007645C= | CA2493475363 | APOB | c.9223G= (p.Ala3075=) c.5869+3088G= (n.5869+3088G=) | |
| 2 | g.21007645C>G | CA345990780 | APOB | c.9223G>C (p.Ala3075Pro) c.5869+3088G>C (n.5869+3088G>C) | |
| 2 | g.21007645C>T | CA345990781 | APOB | c.9223G>A (p.Ala3075Thr) c.5869+3088G>A (n.5869+3088G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.21007646A= | CA2493475364 | APOB | c.9222T= (p.Tyr3074=) c.5869+3087T= (n.5869+3087T=) | |
| 2 | g.21007646A>C | CA345990782 | APOB | c.9222T>G (p.Tyr3074Ter) c.5869+3087T>G (n.5869+3087T>G) | |
| 2 | g.21007646A>G | CA066384 | APOB | c.9222T>C (p.Tyr3074=) c.5869+3087T>C (n.5869+3087T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007646A>T | CA345990783 | APOB | c.9222T>A (p.Tyr3074Ter) c.5869+3087T>A (n.5869+3087T>A) | |
| 2 | g.21007647T>A | CA345990784 | APOB | c.9221A>T (p.Tyr3074Phe) c.5869+3086A>T (n.5869+3086A>T) | |
| 2 | g.21007647T>C | CA066381 | APOB | c.9221A>G (p.Tyr3074Cys) c.5869+3086A>G (n.5869+3086A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007647T>G | CA066376 | APOB | c.9221A>C (p.Tyr3074Ser) c.5869+3086A>C (n.5869+3086A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007647T= | CA2493475365 | APOB | c.9221A= (p.Tyr3074=) c.5869+3086A= (n.5869+3086A=) | |
| 2 | g.21007648A>C | CA345990785 | APOB | c.9220T>G (p.Tyr3074Asp) c.5869+3085T>G (n.5869+3085T>G) | |
| 2 | g.21007648A>G | CA345990786 | APOB | c.9220T>C (p.Tyr3074His) c.5869+3085T>C (n.5869+3085T>C) | |
| 2 | g.21007648A>T | CA345990787 | APOB | c.9220T>A (p.Tyr3074Asn) c.5869+3085T>A (n.5869+3085T>A) | gnomAD v4 |
| 2 | g.21007649G>A | CA425344157 | APOB | c.9219C>T (p.Asn3073=) c.5869+3084C>T (n.5869+3084C>T) | |
| 2 | g.21007649G>C | CA345990789 | APOB | c.9219C>G (p.Asn3073Lys) c.5869+3084C>G (n.5869+3084C>G) | dbSNP |
| 2 | g.21007649G= | CA2493475366 | APOB | c.9219C= (p.Asn3073=) c.5869+3084C= (n.5869+3084C=) | |
| 2 | g.21007649G>T | CA345990788 | APOB | c.9219C>A (p.Asn3073Lys) c.5869+3084C>A (n.5869+3084C>A) | |
| 2 | g.21007650T>A | CA345990790 | APOB | c.9218A>T (p.Asn3073Ile) c.5869+3083A>T (n.5869+3083A>T) | gnomAD v4 |
| 2 | g.21007650T>C | CA345990791 | APOB | c.9218A>G (p.Asn3073Ser) c.5869+3083A>G (n.5869+3083A>G) | |
| 2 | g.21007650T>G | CA345990792 | APOB | c.9218A>C (p.Asn3073Thr) c.5869+3083A>C (n.5869+3083A>C) | dbSNP |
| 2 | g.21007650T= | CA2493475367 | APOB | c.9218A= (p.Asn3073=) c.5869+3083A= (n.5869+3083A=) | |
| 2 | g.21007651T>A | CA345990793 | APOB | c.9217A>T (p.Asn3073Tyr) c.5869+3082A>T (n.5869+3082A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21007651T>C | CA066371 | APOB | c.9217A>G (p.Asn3073Asp) c.5869+3082A>G (n.5869+3082A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007651T>G | CA345990794 | APOB | c.9217A>C (p.Asn3073His) c.5869+3082A>C (n.5869+3082A>C) | |
| 2 | g.21007651T= | CA2493475368 | APOB | c.9217A= (p.Asn3073=) c.5869+3082A= (n.5869+3082A=) | |
| 2 | g.21007652A>C | CA345990796 | APOB | c.9216T>G (p.Asn3072Lys) c.5869+3081T>G (n.5869+3081T>G) | |
| 2 | g.21007652A>G | CA425344161 | APOB | c.9216T>C (p.Asn3072=) c.5869+3081T>C (n.5869+3081T>C) | gnomAD v4 |
| 2 | g.21007652A>T | CA345990795 | APOB | c.9216T>A (p.Asn3072Lys) c.5869+3081T>A (n.5869+3081T>A) | |
| 2 | g.21007653T>A | CA345990797 | APOB | c.9215A>T (p.Asn3072Ile) c.5869+3080A>T (n.5869+3080A>T) | |
| 2 | g.21007653T>C | CA066368 | APOB | c.9215A>G (p.Asn3072Ser) c.5869+3080A>G (n.5869+3080A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007653T>G | CA345990798 | APOB | c.9215A>C (p.Asn3072Thr) c.5869+3080A>C (n.5869+3080A>C) | |
| 2 | g.21007653T= | CA2493475369 | APOB | c.9215A= (p.Asn3072=) c.5869+3080A= (n.5869+3080A=) | |
| 2 | g.21007654T>A | CA345990799 | APOB | c.9214A>T (p.Asn3072Tyr) c.5869+3079A>T (n.5869+3079A>T) | |
| 2 | g.21007654T>C | CA345990800 | APOB | c.9214A>G (p.Asn3072Asp) c.5869+3079A>G (n.5869+3079A>G) | |
| 2 | g.21007654T>G | CA345990801 | APOB | c.9214A>C (p.Asn3072His) c.5869+3079A>C (n.5869+3079A>C) | |
| 2 | g.21007655C>A | CA425344166 | APOB | c.9213G>T (p.Leu3071=) c.5869+3078G>T (n.5869+3078G>T) | |
| 2 | g.21007655C>G | CA425344168 | APOB | c.9213G>C (p.Leu3071=) c.5869+3078G>C (n.5869+3078G>C) | |
| 2 | g.21007655C>T | CA425344171 | APOB | c.9213G>A (p.Leu3071=) c.5869+3078G>A (n.5869+3078G>A) | |
| 2 | g.21007656A>C | CA345990802 | APOB | c.9212T>G (p.Leu3071Arg) c.5869+3077T>G (n.5869+3077T>G) | |
| 2 | g.21007656A>G | CA345990804 | APOB | c.9212T>C (p.Leu3071Pro) c.5869+3077T>C (n.5869+3077T>C) | gnomAD v4 |
| 2 | g.21007656A>T | CA345990803 | APOB | c.9212T>A (p.Leu3071Gln) c.5869+3077T>A (n.5869+3077T>A) | gnomAD v4 |
| 2 | g.21007657G>A | CA425344172 | APOB | c.9211C>T (p.Leu3071=) c.5869+3076C>T (n.5869+3076C>T) | |
| 2 | g.21007657G>C | CA345990805 | APOB | c.9211C>G (p.Leu3071Val) c.5869+3076C>G (n.5869+3076C>G) | |
| 2 | g.21007657G>T | CA345990806 | APOB | c.9211C>A (p.Leu3071Met) c.5869+3076C>A (n.5869+3076C>A) | |
| 2 | g.21007658G>A | CA425344175 | APOB | c.9210C>T (p.Phe3070=) c.5869+3075C>T (n.5869+3075C>T) | |
| 2 | g.21007658G>C | CA345990807 | APOB | c.9210C>G (p.Phe3070Leu) c.5869+3075C>G (n.5869+3075C>G) | |
| 2 | g.21007658G= | CA2493475370 | APOB | c.9210C= (p.Phe3070=) c.5869+3075C= (n.5869+3075C=) | |
| 2 | g.21007658G>T | CA345990808 | APOB | c.9210C>A (p.Phe3070Leu) c.5869+3075C>A (n.5869+3075C>A) | dbSNP gnomAD v2 |
| 2 | g.21007659A>C | CA345990809 | APOB | c.9209T>G (p.Phe3070Cys) c.5869+3074T>G (n.5869+3074T>G) | |
| 2 | g.21007659A>G | CA345990810 | APOB | c.9209T>C (p.Phe3070Ser) c.5869+3074T>C (n.5869+3074T>C) | |
| 2 | g.21007659A>T | CA345990811 | APOB | c.9209T>A (p.Phe3070Tyr) c.5869+3074T>A (n.5869+3074T>A) | |
| 2 | g.21007660A>C | CA345990812 | APOB | c.9208T>G (p.Phe3070Val) c.5869+3073T>G (n.5869+3073T>G) | |
| 2 | g.21007660A>G | CA345990813 | APOB | c.9208T>C (p.Phe3070Leu) c.5869+3073T>C (n.5869+3073T>C) | gnomAD v4 |
| 2 | g.21007660A>T | CA345990814 | APOB | c.9208T>A (p.Phe3070Ile) c.5869+3073T>A (n.5869+3073T>A) | |
| 2 | g.21007661G>A | CA425344181 | APOB | c.9207C>T (p.Asp3069=) c.5869+3072C>T (n.5869+3072C>T) | |
| 2 | g.21007661G>C | CA345990815 | APOB | c.9207C>G (p.Asp3069Glu) c.5869+3072C>G (n.5869+3072C>G) | |
| 2 | g.21007661G>T | CA345990816 | APOB | c.9207C>A (p.Asp3069Glu) c.5869+3072C>A (n.5869+3072C>A) | |
| 2 | g.21007662T>A | CA345990818 | APOB | c.9206A>T (p.Asp3069Val) c.5869+3071A>T (n.5869+3071A>T) | |
| 2 | g.21007662T>C | CA345990819 | APOB | c.9206A>G (p.Asp3069Gly) c.5869+3071A>G (n.5869+3071A>G) | gnomAD v4 |
| 2 | g.21007662T>G | CA345990817 | APOB | c.9206A>C (p.Asp3069Ala) c.5869+3071A>C (n.5869+3071A>C) | |
| 2 | g.21007663C>A | CA345990820 | APOB | c.9205G>T (p.Asp3069Tyr) c.5869+3070G>T (n.5869+3070G>T) | |
| 2 | g.21007663C>G | CA345990821 | APOB | c.9205G>C (p.Asp3069His) c.5869+3070G>C (n.5869+3070G>C) | |
| 2 | g.21007663C>T | CA345990822 | APOB | c.9205G>A (p.Asp3069Asn) c.5869+3070G>A (n.5869+3070G>A) | |
| 2 | g.21007664T>A | CA425344186 | APOB | c.9204A>T (p.Ile3068=) c.5869+3069A>T (n.5869+3069A>T) | |
| 2 | g.21007664T>C | CA345990823 | APOB | c.9204A>G (p.Ile3068Met) c.5869+3069A>G (n.5869+3069A>G) | |
| 2 | g.21007664T>G | CA425344184 | APOB | c.9204A>C (p.Ile3068=) c.5869+3069A>C (n.5869+3069A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21007664T= | CA2493475371 | APOB | c.9204A= (p.Ile3068=) c.5869+3069A= (n.5869+3069A=) | |
| 2 | g.21007665A= | CA2493475372 | APOB | c.9203T= (p.Ile3068=) c.5869+3068T= (n.5869+3068T=) | |
| 2 | g.21007665A>C | CA345990826 | APOB | c.9203T>G (p.Ile3068Arg) c.5869+3068T>G (n.5869+3068T>G) | |
| 2 | g.21007665A>G | CA345990825 | APOB | c.9203T>C (p.Ile3068Thr) c.5869+3068T>C (n.5869+3068T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21007665A>T | CA345990824 | APOB | c.9203T>A (p.Ile3068Lys) c.5869+3068T>A (n.5869+3068T>A) | |
| 2 | g.21007666T>A | CA345990827 | APOB | c.9202A>T (p.Ile3068Leu) c.5869+3067A>T (n.5869+3067A>T) | |
| 2 | g.21007666T>C | CA066366 | APOB | c.9202A>G (p.Ile3068Val) c.5869+3067A>G (n.5869+3067A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007666T>G | CA345990828 | APOB | c.9202A>C (p.Ile3068Leu) c.5869+3067A>C (n.5869+3067A>C) | |
| 2 | g.21007666T= | CA2493475373 | APOB | c.9202A= (p.Ile3068=) c.5869+3067A= (n.5869+3067A=) | |
| 2 | g.21007667C>A | CA345990829 | APOB | c.9201G>T (p.Lys3067Asn) c.5869+3066G>T (n.5869+3066G>T) | |
| 2 | g.21007667C= | CA2493475375 | APOB | c.9201G= (p.Lys3067=) c.5869+3066G= (n.5869+3066G=) | |
| 2 | g.21007667C>G | CA345990830 | APOB | c.9201G>C (p.Lys3067Asn) c.5869+3066G>C (n.5869+3066G>C) | gnomAD v4 |
| 2 | g.21007667C>T | CA425344188 | APOB | c.9201G>A (p.Lys3067=) c.5869+3066G>A (n.5869+3066G>A) | dbSNP |
| 2 | g.21007667_21007668delinsCT | CA2493475374 | APOB | c.9200_9201delinsAG (p.Lys3067=) c.5869+3065_5869+3066delinsAG (n.5869+3065_5869+3066delinsAG) | |
| 2 | g.21007668T>A | CA345990833 | APOB | c.9200A>T (p.Lys3067Met) c.5869+3065A>T (n.5869+3065A>T) | ClinVar dbSNP |
| 2 | g.21007668T>C | CA345990831 | APOB | c.9200A>G (p.Lys3067Arg) c.5869+3065A>G (n.5869+3065A>G) | |
| 2 | g.21007668T>G | CA345990832 | APOB | c.9200A>C (p.Lys3067Thr) c.5869+3065A>C (n.5869+3065A>C) | |
| 2 | g.21007668T= | CA2493475376 | APOB | c.9200A= (p.Lys3067=) c.5869+3065A= (n.5869+3065A=) | |
| 2 | g.21007669del | CA022945 | APOB | c.9200del (p.Lys3067ArgfsTer2) c.5869+3065del (n.5869+3065del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21007669T>A | CA345990834 | APOB | c.9199A>T (p.Lys3067Ter) c.5869+3064A>T (n.5869+3064A>T) | |
| 2 | g.21007669T>C | CA345990835 | APOB | c.9199A>G (p.Lys3067Glu) c.5869+3064A>G (n.5869+3064A>G) | ClinVar |
| 2 | g.21007669T>G | CA345990836 | APOB | c.9199A>C (p.Lys3067Gln) c.5869+3064A>C (n.5869+3064A>C) | |
| 2 | g.21007670C>A | CA425344194 | APOB | c.9198G>T (p.Gly3066=) c.5869+3063G>T (n.5869+3063G>T) | |
| 2 | g.21007670C>G | CA425344195 | APOB | c.9198G>C (p.Gly3066=) c.5869+3063G>C (n.5869+3063G>C) | |
| 2 | g.21007670C>T | CA425344196 | APOB | c.9198G>A (p.Gly3066=) c.5869+3063G>A (n.5869+3063G>A) | |
| 2 | g.21007671C>A | CA345990837 | APOB | c.9197G>T (p.Gly3066Val) c.5869+3062G>T (n.5869+3062G>T) | |
| 2 | g.21007671C>G | CA345990838 | APOB | c.9197G>C (p.Gly3066Ala) c.5869+3062G>C (n.5869+3062G>C) | |
| 2 | g.21007671C>T | CA345990839 | APOB | c.9197G>A (p.Gly3066Glu) c.5869+3062G>A (n.5869+3062G>A) | ClinVar |
| 2 | g.21007672C>A | CA345990840 | APOB | c.9196G>T (p.Gly3066Trp) c.5869+3061G>T (n.5869+3061G>T) | |
| 2 | g.21007672C= | CA2493475377 | APOB | c.9196G= (p.Gly3066=) c.5869+3061G= (n.5869+3061G=) | |
| 2 | g.21007672C>G | CA345990841 | APOB | c.9196G>C (p.Gly3066Arg) c.5869+3061G>C (n.5869+3061G>C) | |
| 2 | g.21007672C>T | CA345990842 | APOB | c.9196G>A (p.Gly3066Arg) c.5869+3061G>A (n.5869+3061G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007673del | CA2658076743 | APOB | c.9195del (p.Lys3067ArgfsTer2) c.5869+3060del (n.5869+3060del) | gnomAD v4 |
| 2 | g.21007673T>A | CA425344198 | APOB | c.9195A>T (p.Thr3065=) c.5869+3060A>T (n.5869+3060A>T) | dbSNP gnomAD v4 |
| 2 | g.21007673T>C | CA066361 | APOB | c.9195A>G (p.Thr3065=) c.5869+3060A>G (n.5869+3060A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007673T>G | CA425344199 | APOB | c.9195A>C (p.Thr3065=) c.5869+3060A>C (n.5869+3060A>C) | dbSNP gnomAD v4 |
| 2 | g.21007673T= | CA2493475378 | APOB | c.9195A= (p.Thr3065=) c.5869+3060A= (n.5869+3060A=) | |
| 2 | g.21007674G>A | CA345990843 | APOB | c.9194C>T (p.Thr3065Ile) c.5869+3059C>T (n.5869+3059C>T) | |
| 2 | g.21007674G>C | CA345990844 | APOB | c.9194C>G (p.Thr3065Arg) c.5869+3059C>G (n.5869+3059C>G) | |
| 2 | g.21007674G>T | CA345990845 | APOB | c.9194C>A (p.Thr3065Lys) c.5869+3059C>A (n.5869+3059C>A) | |
| 2 | g.21007675T>A | CA345990847 | APOB | c.9193A>T (p.Thr3065Ser) c.5869+3058A>T (n.5869+3058A>T) | dbSNP COSMIC |
| 2 | g.21007675T>C | CA066356 | APOB | c.9193A>G (p.Thr3065Ala) c.5869+3058A>G (n.5869+3058A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007675T>G | CA345990846 | APOB | c.9193A>C (p.Thr3065Pro) c.5869+3058A>C (n.5869+3058A>C) | |
| 2 | g.21007675T= | CA2493475379 | APOB | c.9193A= (p.Thr3065=) c.5869+3058A= (n.5869+3058A=) | |
| 2 | g.21007676T>A | CA345990848 | APOB | c.9192A>T (p.Leu3064Phe) c.5869+3057A>T (n.5869+3057A>T) | |
| 2 | g.21007676T>C | CA425344201 | APOB | c.9192A>G (p.Leu3064=) c.5869+3057A>G (n.5869+3057A>G) | dbSNP |
| 2 | g.21007676T>G | CA345990849 | APOB | c.9192A>C (p.Leu3064Phe) c.5869+3057A>C (n.5869+3057A>C) | |
| 2 | g.21007676T= | CA2493475380 | APOB | c.9192A= (p.Leu3064=) c.5869+3057A= (n.5869+3057A=) | |
| 2 | g.21007677A= | CA2493475381 | APOB | c.9191T= (p.Leu3064=) c.5869+3056T= (n.5869+3056T=) | |
| 2 | g.21007677A>C | CA345990850 | APOB | c.9191T>G (p.Leu3064Ter) c.5869+3056T>G (n.5869+3056T>G) | dbSNP gnomAD v4 |
| 2 | g.21007677A>G | CA345990851 | APOB | c.9191T>C (p.Leu3064Ser) c.5869+3056T>C (n.5869+3056T>C) | |
| 2 | g.21007677A>T | CA345990852 | APOB | c.9191T>A (p.Leu3064Ter) c.5869+3056T>A (n.5869+3056T>A) | |
| 2 | g.21007678A= | CA2493475382 | APOB | c.9190T= (p.Leu3064=) c.5869+3055T= (n.5869+3055T=) | |
| 2 | g.21007678A>C | CA345990853 | APOB | c.9190T>G (p.Leu3064Val) c.5869+3055T>G (n.5869+3055T>G) | |
| 2 | g.21007678A>G | CA425344203 | APOB | c.9190T>C (p.Leu3064=) c.5869+3055T>C (n.5869+3055T>C) | dbSNP |
| 2 | g.21007678A>T | CA066353 | APOB | c.9190T>A (p.Leu3064Ile) c.5869+3055T>A (n.5869+3055T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21007679C>A | CA066349 | APOB | c.9189G>T (p.Arg3063Ser) c.5869+3054G>T (n.5869+3054G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21007679C= | CA2493475383 | APOB | c.9189G= (p.Arg3063=) c.5869+3054G= (n.5869+3054G=) | |
| 2 | g.21007679C>G | CA345990854 | APOB | c.9189G>C (p.Arg3063Ser) c.5869+3054G>C (n.5869+3054G>C) | |
| 2 | g.21007679C>T | CA425344204 | APOB | c.9189G>A (p.Arg3063=) c.5869+3054G>A (n.5869+3054G>A) | gnomAD v4 |
| 2 | g.21007680C>A | CA345990855 | APOB | c.9188G>T (p.Arg3063Met) c.5869+3053G>T (n.5869+3053G>T) | |
| 2 | g.21007680C>G | CA345990856 | APOB | c.9188G>C (p.Arg3063Thr) c.5869+3053G>C (n.5869+3053G>C) | gnomAD v4 |
| 2 | g.21007680C>T | CA345990857 | APOB | c.9188G>A (p.Arg3063Lys) c.5869+3053G>A (n.5869+3053G>A) | gnomAD v4 |