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.21005167T>A | CA345977656 | APOB | c.11701A>T (p.Ser3901Cys) c.5869+5566A>T (n.5869+5566A>T) | |
| 2 | g.21005167T>C | CA345977659 | APOB | c.11701A>G (p.Ser3901Gly) c.5869+5566A>G (n.5869+5566A>G) | dbSNP |
| 2 | g.21005167T>G | CA345977658 | APOB | c.11701A>C (p.Ser3901Arg) c.5869+5566A>C (n.5869+5566A>C) | |
| 2 | g.21005167T= | CA2493474279 | APOB | c.11701A= (p.Ser3901=) c.5869+5566A= (n.5869+5566A=) | |
| 2 | g.21005168G>A | CA425136066 | APOB | c.11700C>T (p.Ala3900=) c.5869+5565C>T (n.5869+5565C>T) | dbSNP |
| 2 | g.21005168G>C | CA425136067 | APOB | c.11700C>G (p.Ala3900=) c.5869+5565C>G (n.5869+5565C>G) | |
| 2 | g.21005168G= | CA2493474280 | APOB | c.11700C= (p.Ala3900=) c.5869+5565C= (n.5869+5565C=) | |
| 2 | g.21005168G>T | CA425136068 | APOB | c.11700C>A (p.Ala3900=) c.5869+5565C>A (n.5869+5565C>A) | |
| 2 | g.21005169G>A | CA345977662 | APOB | c.11699C>T (p.Ala3900Val) c.5869+5564C>T (n.5869+5564C>T) | |
| 2 | g.21005169G>C | CA345977663 | APOB | c.11699C>G (p.Ala3900Gly) c.5869+5564C>G (n.5869+5564C>G) | dbSNP |
| 2 | g.21005169G>T | CA345977665 | APOB | c.11699C>A (p.Ala3900Asp) c.5869+5564C>A (n.5869+5564C>A) | gnomAD v4 |
| 2 | g.21005170C>A | CA345977668 | APOB | c.11698G>T (p.Ala3900Ser) c.5869+5563G>T (n.5869+5563G>T) | |
| 2 | g.21005170C>G | CA345977669 | APOB | c.11698G>C (p.Ala3900Pro) c.5869+5563G>C (n.5869+5563G>C) | |
| 2 | g.21005170C>T | CA345977671 | APOB | c.11698G>A (p.Ala3900Thr) c.5869+5563G>A (n.5869+5563G>A) | COSMIC |
| 2 | g.21005170_21005172del | CA645535045 | APOB | c.11696_11698del (p.Ser3899_Ala3900delinsThr) c.5869+5561_5869+5563del (n.5869+5561_5869+5563del) | COSMIC |
| 2 | g.21005171A= | CA2493474281 | APOB | c.11697T= (p.Ser3899=) c.5869+5562T= (n.5869+5562T=) | |
| 2 | g.21005171A>C | CA345977674 | APOB | c.11697T>G (p.Ser3899Arg) c.5869+5562T>G (n.5869+5562T>G) | |
| 2 | g.21005171A>G | CA425136069 | APOB | c.11697T>C (p.Ser3899=) c.5869+5562T>C (n.5869+5562T>C) | dbSNP |
| 2 | g.21005171A>T | CA345977675 | APOB | c.11697T>A (p.Ser3899Arg) c.5869+5562T>A (n.5869+5562T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21005172C>A | CA345977678 | APOB | c.11696G>T (p.Ser3899Ile) c.5869+5561G>T (n.5869+5561G>T) | ClinVar |
| 2 | g.21005172C= | CA2493474282 | APOB | c.11696G= (p.Ser3899=) c.5869+5561G= (n.5869+5561G=) | |
| 2 | g.21005172C>G | CA345977680 | APOB | c.11696G>C (p.Ser3899Thr) c.5869+5561G>C (n.5869+5561G>C) | |
| 2 | g.21005172C>T | CA047165 | APOB | c.11696G>A (p.Ser3899Asn) c.5869+5561G>A (n.5869+5561G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005173T>A | CA345977684 | APOB | c.11695A>T (p.Ser3899Cys) c.5869+5560A>T (n.5869+5560A>T) | |
| 2 | g.21005173T>C | CA345977687 | APOB | c.11695A>G (p.Ser3899Gly) c.5869+5560A>G (n.5869+5560A>G) | gnomAD v4 |
| 2 | g.21005173T>G | CA43491540 | APOB | c.11695A>C (p.Ser3899Arg) c.5869+5560A>C (n.5869+5560A>C) | dbSNP |
| 2 | g.21005173T= | CA2493474283 | APOB | c.11695A= (p.Ser3899=) c.5869+5560A= (n.5869+5560A=) | |
| 2 | g.21005174C>A | CA345977690 | APOB | c.11694G>T (p.Trp3898Cys) c.5869+5559G>T (n.5869+5559G>T) | |
| 2 | g.21005174C>G | CA345977692 | APOB | c.11694G>C (p.Trp3898Cys) c.5869+5559G>C (n.5869+5559G>C) | |
| 2 | g.21005174C>T | CA345977694 | APOB | c.11694G>A (p.Trp3898Ter) c.5869+5559G>A (n.5869+5559G>A) | gnomAD v4 |
| 2 | g.21005175C>A | CA345977697 | APOB | c.11693G>T (p.Trp3898Leu) c.5869+5558G>T (n.5869+5558G>T) | |
| 2 | g.21005175C>G | CA345977698 | APOB | c.11693G>C (p.Trp3898Ser) c.5869+5558G>C (n.5869+5558G>C) | |
| 2 | g.21005175C>T | CA345977700 | APOB | c.11693G>A (p.Trp3898Ter) c.5869+5558G>A (n.5869+5558G>A) | |
| 2 | g.21005176A>C | CA345977702 | APOB | c.11692T>G (p.Trp3898Gly) c.5869+5557T>G (n.5869+5557T>G) | |
| 2 | g.21005176A>G | CA345977703 | APOB | c.11692T>C (p.Trp3898Arg) c.5869+5557T>C (n.5869+5557T>C) | |
| 2 | g.21005176A>T | CA345977705 | APOB | c.11692T>A (p.Trp3898Arg) c.5869+5557T>A (n.5869+5557T>A) | |
| 2 | g.21005177A= | CA2493474284 | APOB | c.11691T= (p.Thr3897=) c.5869+5556T= (n.5869+5556T=) | |
| 2 | g.21005177A>C | CA425136070 | APOB | c.11691T>G (p.Thr3897=) c.5869+5556T>G (n.5869+5556T>G) | ClinVar dbSNP |
| 2 | g.21005177A>G | CA425136071 | APOB | c.11691T>C (p.Thr3897=) c.5869+5556T>C (n.5869+5556T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005177A>T | CA425136072 | APOB | c.11691T>A (p.Thr3897=) c.5869+5556T>A (n.5869+5556T>A) | |
| 2 | g.21005178G>A | CA43491541 | APOB | c.11690C>T (p.Thr3897Ile) c.5869+5555C>T (n.5869+5555C>T) | dbSNP gnomAD v4 COSMIC |
| 2 | g.21005178G>C | CA345977708 | APOB | c.11690C>G (p.Thr3897Ser) c.5869+5555C>G (n.5869+5555C>G) | |
| 2 | g.21005178G= | CA2493474285 | APOB | c.11690C= (p.Thr3897=) c.5869+5555C= (n.5869+5555C=) | |
| 2 | g.21005178G>T | CA345977710 | APOB | c.11690C>A (p.Thr3897Asn) c.5869+5555C>A (n.5869+5555C>A) | |
| 2 | g.21005179T>A | CA345977716 | APOB | c.11689A>T (p.Thr3897Ser) c.5869+5554A>T (n.5869+5554A>T) | |
| 2 | g.21005179T>C | CA345977712 | APOB | c.11689A>G (p.Thr3897Ala) c.5869+5554A>G (n.5869+5554A>G) | |
| 2 | g.21005179T>G | CA345977714 | APOB | c.11689A>C (p.Thr3897Pro) c.5869+5554A>C (n.5869+5554A>C) | |
| 2 | g.21005180G>A | CA425136074 | APOB | c.11688C>T (p.Ala3896=) c.5869+5553C>T (n.5869+5553C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21005180G>C | CA425136075 | APOB | c.11688C>G (p.Ala3896=) c.5869+5553C>G (n.5869+5553C>G) | |
| 2 | g.21005180G= | CA2493474286 | APOB | c.11688C= (p.Ala3896=) c.5869+5553C= (n.5869+5553C=) | |
| 2 | g.21005180G>T | CA425136073 | APOB | c.11688C>A (p.Ala3896=) c.5869+5553C>A (n.5869+5553C>A) | |
| 2 | g.21005181G>A | CA047153 | APOB | c.11687C>T (p.Ala3896Val) c.5869+5552C>T (n.5869+5552C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.21005181G>C | CA345977719 | APOB | c.11687C>G (p.Ala3896Gly) c.5869+5552C>G (n.5869+5552C>G) | |
| 2 | g.21005181G= | CA2493474287 | APOB | c.11687C= (p.Ala3896=) c.5869+5552C= (n.5869+5552C=) | |
| 2 | g.21005181G>T | CA345977721 | APOB | c.11687C>A (p.Ala3896Asp) c.5869+5552C>A (n.5869+5552C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005182C>A | CA345977723 | APOB | c.11686G>T (p.Ala3896Ser) c.5869+5551G>T (n.5869+5551G>T) | COSMIC |
| 2 | g.21005182C>G | CA345977725 | APOB | c.11686G>C (p.Ala3896Pro) c.5869+5551G>C (n.5869+5551G>C) | |
| 2 | g.21005182C>T | CA345977727 | APOB | c.11686G>A (p.Ala3896Thr) c.5869+5551G>A (n.5869+5551G>A) | |
| 2 | g.21005183A= | CA2493474288 | APOB | c.11685T= (p.Asn3895=) c.5869+5550T= (n.5869+5550T=) | |
| 2 | g.21005183A>C | CA345977729 | APOB | c.11685T>G (p.Asn3895Lys) c.5869+5550T>G (n.5869+5550T>G) | |
| 2 | g.21005183A>G | CA047140 | APOB | c.11685T>C (p.Asn3895=) c.5869+5550T>C (n.5869+5550T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005183A>T | CA345977732 | APOB | c.11685T>A (p.Asn3895Lys) c.5869+5550T>A (n.5869+5550T>A) | gnomAD v4 |
| 2 | g.21005184T>A | CA345977735 | APOB | c.11684A>T (p.Asn3895Ile) c.5869+5549A>T (n.5869+5549A>T) | |
| 2 | g.21005184T>C | CA345977736 | APOB | c.11684A>G (p.Asn3895Ser) c.5869+5549A>G (n.5869+5549A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005184T>G | CA345977737 | APOB | c.11684A>C (p.Asn3895Thr) c.5869+5549A>C (n.5869+5549A>C) | |
| 2 | g.21005184T= | CA2493474289 | APOB | c.11684A= (p.Asn3895=) c.5869+5549A= (n.5869+5549A=) | |
| 2 | g.21005185T>A | CA345977741 | APOB | c.11683A>T (p.Asn3895Tyr) c.5869+5548A>T (n.5869+5548A>T) | |
| 2 | g.21005185T>C | CA345977743 | APOB | c.11683A>G (p.Asn3895Asp) c.5869+5548A>G (n.5869+5548A>G) | |
| 2 | g.21005185T>G | CA345977739 | APOB | c.11683A>C (p.Asn3895His) c.5869+5548A>C (n.5869+5548A>C) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21005186A>C | CA345977747 | APOB | c.11682T>G (p.Tyr3894Ter) c.5869+5547T>G (n.5869+5547T>G) | |
| 2 | g.21005186A>G | CA425136077 | APOB | c.11682T>C (p.Tyr3894=) c.5869+5547T>C (n.5869+5547T>C) | |
| 2 | g.21005186A>T | CA345977745 | APOB | c.11682T>A (p.Tyr3894Ter) c.5869+5547T>A (n.5869+5547T>A) | |
| 2 | g.21005187T>A | CA047130 | APOB | c.11681A>T (p.Tyr3894Phe) c.5869+5546A>T (n.5869+5546A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005187T>C | CA345977748 | APOB | c.11681A>G (p.Tyr3894Cys) c.5869+5546A>G (n.5869+5546A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005187T>G | CA345977749 | APOB | c.11681A>C (p.Tyr3894Ser) c.5869+5546A>C (n.5869+5546A>C) | |
| 2 | g.21005187T= | CA2493474290 | APOB | c.11681A= (p.Tyr3894=) c.5869+5546A= (n.5869+5546A=) | |
| 2 | g.21005188A>C | CA345977752 | APOB | c.11680T>G (p.Tyr3894Asp) c.5869+5545T>G (n.5869+5545T>G) | |
| 2 | g.21005188A>G | CA345977754 | APOB | c.11680T>C (p.Tyr3894His) c.5869+5545T>C (n.5869+5545T>C) | |
| 2 | g.21005188A>T | CA345977756 | APOB | c.11680T>A (p.Tyr3894Asn) c.5869+5545T>A (n.5869+5545T>A) | |
| 2 | g.21005189C>A | CA425342700 | APOB | c.11679G>T (p.Val3893=) c.5869+5544G>T (n.5869+5544G>T) | |
| 2 | g.21005189C= | CA2493473782 | APOB | c.11679G= (p.Val3893=) c.5869+5544G= (n.5869+5544G=) | |
| 2 | g.21005189C>G | CA425342701 | APOB | c.11679G>C (p.Val3893=) c.5869+5544G>C (n.5869+5544G>C) | |
| 2 | g.21005189C>T | CA425342702 | APOB | c.11679G>A (p.Val3893=) c.5869+5544G>A (n.5869+5544G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005190A= | CA2493473783 | APOB | c.11678T= (p.Val3893=) c.5869+5543T= (n.5869+5543T=) | |
| 2 | g.21005190A>C | CA345977758 | APOB | c.11678T>G (p.Val3893Gly) c.5869+5543T>G (n.5869+5543T>G) | |
| 2 | g.21005190A>G | CA047119 | APOB | c.11678T>C (p.Val3893Ala) c.5869+5543T>C (n.5869+5543T>C) | dbSNP ExAC gnomAD v2 |
| 2 | g.21005190A>T | CA345977760 | APOB | c.11678T>A (p.Val3893Glu) c.5869+5543T>A (n.5869+5543T>A) | |
| 2 | g.21005191C>A | CA345977762 | APOB | c.11677G>T (p.Val3893Leu) c.5869+5542G>T (n.5869+5542G>T) | |
| 2 | g.21005191C= | CA2493473784 | APOB | c.11677G= (p.Val3893=) c.5869+5542G= (n.5869+5542G=) | |
| 2 | g.21005191C>G | CA43491563 | APOB | c.11677G>C (p.Val3893Leu) c.5869+5542G>C (n.5869+5542G>C) | dbSNP |
| 2 | g.21005191C>T | CA047108 | APOB | c.11677G>A (p.Val3893Met) c.5869+5542G>A (n.5869+5542G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005192G>A | CA047098 | APOB | c.11676C>T (p.Pro3892=) c.5869+5541C>T (n.5869+5541C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21005192G>C | CA425342704 | APOB | c.11676C>G (p.Pro3892=) c.5869+5541C>G (n.5869+5541C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005192G= | CA2493473785 | APOB | c.11676C= (p.Pro3892=) c.5869+5541C= (n.5869+5541C=) | |
| 2 | g.21005192G>T | CA425342703 | APOB | c.11676C>A (p.Pro3892=) c.5869+5541C>A (n.5869+5541C>A) | dbSNP |
| 2 | g.21005193G>A | CA345977770 | APOB | c.11675C>T (p.Pro3892Leu) c.5869+5540C>T (n.5869+5540C>T) | |
| 2 | g.21005193G>C | CA345977768 | APOB | c.11675C>G (p.Pro3892Arg) c.5869+5540C>G (n.5869+5540C>G) | |
| 2 | g.21005193G>T | CA345977769 | APOB | c.11675C>A (p.Pro3892His) c.5869+5540C>A (n.5869+5540C>A) | |
| 2 | g.21005194G>A | CA345977774 | APOB | c.11674C>T (p.Pro3892Ser) c.5869+5539C>T (n.5869+5539C>T) | ClinVar dbSNP |
| 2 | g.21005194G>C | CA345977775 | APOB | c.11674C>G (p.Pro3892Ala) c.5869+5539C>G (n.5869+5539C>G) | |
| 2 | g.21005194G= | CA2493473787 | APOB | c.11674C= (p.Pro3892=) c.5869+5539C= (n.5869+5539C=) | |
| 2 | g.21005194G>T | CA345977776 | APOB | c.11674C>A (p.Pro3892Thr) c.5869+5539C>A (n.5869+5539C>A) | |
| 2 | g.21005195A>C | CA425342707 | APOB | c.11673T>G (p.Ser3891=) c.5869+5538T>G (n.5869+5538T>G) | |
| 2 | g.21005195A>G | CA425342706 | APOB | c.11673T>C (p.Ser3891=) c.5869+5538T>C (n.5869+5538T>C) | gnomAD v4 |
| 2 | g.21005195A>T | CA425342705 | APOB | c.11673T>A (p.Ser3891=) c.5869+5538T>A (n.5869+5538T>A) | |
| 2 | g.21005196G>A | CA345977779 | APOB | c.11672C>T (p.Ser3891Phe) c.5869+5537C>T (n.5869+5537C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21005196G>C | CA345977780 | APOB | c.11672C>G (p.Ser3891Cys) c.5869+5537C>G (n.5869+5537C>G) | gnomAD v4 |
| 2 | g.21005196G= | CA2493473788 | APOB | c.11672C= (p.Ser3891=) c.5869+5537C= (n.5869+5537C=) | |
| 2 | g.21005196G>T | CA345977781 | APOB | c.11672C>A (p.Ser3891Tyr) c.5869+5537C>A (n.5869+5537C>A) | |
| 2 | g.21005197A>C | CA345977784 | APOB | c.11671T>G (p.Ser3891Ala) c.5869+5536T>G (n.5869+5536T>G) | |
| 2 | g.21005197A>G | CA345977785 | APOB | c.11671T>C (p.Ser3891Pro) c.5869+5536T>C (n.5869+5536T>C) | |
| 2 | g.21005197A>T | CA345977787 | APOB | c.11671T>A (p.Ser3891Thr) c.5869+5536T>A (n.5869+5536T>A) | |
| 2 | g.21005197dup | CA916487970 | APOB | c.11671dup (p.Ser3891PhefsTer5) c.5869+5536dup (n.5869+5536dup) | dbSNP |
| 2 | g.21005198G>A | CA425342708 | APOB | c.11670C>T (p.Asp3890=) c.5869+5535C>T (n.5869+5535C>T) | dbSNP gnomAD v4 |
| 2 | g.21005198G>C | CA345977790 | APOB | c.11670C>G (p.Asp3890Glu) c.5869+5535C>G (n.5869+5535C>G) | gnomAD v4 |
| 2 | g.21005198G= | CA2493473789 | APOB | c.11670C= (p.Asp3890=) c.5869+5535C= (n.5869+5535C=) | |
| 2 | g.21005198G>T | CA345977791 | APOB | c.11670C>A (p.Asp3890Glu) c.5869+5535C>A (n.5869+5535C>A) | |
| 2 | g.21005198_21005199insCCA | CA916487971 | APOB | c.11669_11670insTGG (p.Asp3890_Ser3891insGly) c.5869+5534_5869+5535insTGG (n.5869+5534_5869+5535insTGG) | dbSNP |
| 2 | g.21005199T>A | CA345977795 | APOB | c.11669A>T (p.Asp3890Val) c.5869+5534A>T (n.5869+5534A>T) | |
| 2 | g.21005199T>C | CA345977797 | APOB | c.11669A>G (p.Asp3890Gly) c.5869+5534A>G (n.5869+5534A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005199T>G | CA345977794 | APOB | c.11669A>C (p.Asp3890Ala) c.5869+5534A>C (n.5869+5534A>C) | |
| 2 | g.21005199T= | CA2493473790 | APOB | c.11669A= (p.Asp3890=) c.5869+5534A= (n.5869+5534A=) | |
| 2 | g.21005200C>A | CA345977799 | APOB | c.11668G>T (p.Asp3890Tyr) c.5869+5533G>T (n.5869+5533G>T) | |
| 2 | g.21005200C= | CA2493473791 | APOB | c.11668G= (p.Asp3890=) c.5869+5533G= (n.5869+5533G=) | |
| 2 | g.21005200C>G | CA345977800 | APOB | c.11668G>C (p.Asp3890His) c.5869+5533G>C (n.5869+5533G>C) | |
| 2 | g.21005200C>T | CA345977802 | APOB | c.11668G>A (p.Asp3890Asn) c.5869+5533G>A (n.5869+5533G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005200_21005202delinsCTA | CA2493473792 | APOB | c.11666_11668delinsTAG (p.Val3889=) c.5869+5531_5869+5533delinsTAG (n.5869+5531_5869+5533delinsTAG) | |
| 2 | g.21005201T>A | CA425342709 | APOB | c.11667A>T (p.Val3889=) c.5869+5532A>T (n.5869+5532A>T) | |
| 2 | g.21005201T>C | CA425342710 | APOB | c.11667A>G (p.Val3889=) c.5869+5532A>G (n.5869+5532A>G) | gnomAD v4 |
| 2 | g.21005201T>G | CA425342711 | APOB | c.11667A>C (p.Val3889=) c.5869+5532A>C (n.5869+5532A>C) | |
| 2 | g.21005201_21005202del | CA916487973 | APOB | c.11666_11667del (p.Val3889GlyfsTer6) c.5869+5531_5869+5532del (n.5869+5531_5869+5532del) | dbSNP |
| 2 | g.21005202A>C | CA345977805 | APOB | c.11666T>G (p.Val3889Gly) c.5869+5531T>G (n.5869+5531T>G) | |
| 2 | g.21005202A>G | CA345977807 | APOB | c.11666T>C (p.Val3889Ala) c.5869+5531T>C (n.5869+5531T>C) | |
| 2 | g.21005202A>T | CA345977808 | APOB | c.11666T>A (p.Val3889Glu) c.5869+5531T>A (n.5869+5531T>A) | |
| 2 | g.21005203C>A | CA345977814 | APOB | c.11665G>T (p.Val3889Leu) c.5869+5530G>T (n.5869+5530G>T) | |
| 2 | g.21005203C= | CA2493473793 | APOB | c.11665G= (p.Val3889=) c.5869+5530G= (n.5869+5530G=) | |
| 2 | g.21005203C>G | CA345977810 | APOB | c.11665G>C (p.Val3889Leu) c.5869+5530G>C (n.5869+5530G>C) | |
| 2 | g.21005203C>T | CA345977812 | APOB | c.11665G>A (p.Val3889Ile) c.5869+5530G>A (n.5869+5530G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005204C>A | CA345977816 | APOB | c.11664G>T (p.Glu3888Asp) c.5869+5529G>T (n.5869+5529G>T) | gnomAD v4 |
| 2 | g.21005204C>G | CA345977818 | APOB | c.11664G>C (p.Glu3888Asp) c.5869+5529G>C (n.5869+5529G>C) | |
| 2 | g.21005204C>T | CA425342712 | APOB | c.11664G>A (p.Glu3888=) c.5869+5529G>A (n.5869+5529G>A) | |
| 2 | g.21005204_21005208delinsCTCAA | CA2493473794 | APOB | c.11660_11664delinsTTGAG (p.Phe3887=) c.5869+5525_5869+5529delinsTTGAG (n.5869+5525_5869+5529delinsTTGAG) | |
| 2 | g.21005205T>A | CA345977820 | APOB | c.11663A>T (p.Glu3888Val) c.5869+5528A>T (n.5869+5528A>T) | |
| 2 | g.21005205T>C | CA345977822 | APOB | c.11663A>G (p.Glu3888Gly) c.5869+5528A>G (n.5869+5528A>G) | |
| 2 | g.21005205T>G | CA345977824 | APOB | c.11663A>C (p.Glu3888Ala) c.5869+5528A>C (n.5869+5528A>C) | |
| 2 | g.21005205_21005208del | CA916487974 | APOB | c.11660_11663del (p.Phe3887TrpfsTer2) c.5869+5525_5869+5528del (n.5869+5525_5869+5528del) | dbSNP |
| 2 | g.21005206C>A | CA345977826 | APOB | c.11662G>T (p.Glu3888Ter) c.5869+5527G>T (n.5869+5527G>T) | |
| 2 | g.21005206C>G | CA345977830 | APOB | c.11662G>C (p.Glu3888Gln) c.5869+5527G>C (n.5869+5527G>C) | |
| 2 | g.21005206C>T | CA345977828 | APOB | c.11662G>A (p.Glu3888Lys) c.5869+5527G>A (n.5869+5527G>A) | |
| 2 | g.21005207A>C | CA345977832 | APOB | c.11661T>G (p.Phe3887Leu) c.5869+5526T>G (n.5869+5526T>G) | |
| 2 | g.21005207A>G | CA425342713 | APOB | c.11661T>C (p.Phe3887=) c.5869+5526T>C (n.5869+5526T>C) | |
| 2 | g.21005207A>T | CA345977833 | APOB | c.11661T>A (p.Phe3887Leu) c.5869+5526T>A (n.5869+5526T>A) | |
| 2 | g.21005208A>C | CA345977835 | APOB | c.11660T>G (p.Phe3887Cys) c.5869+5525T>G (n.5869+5525T>G) | |
| 2 | g.21005208A>G | CA345977837 | APOB | c.11660T>C (p.Phe3887Ser) c.5869+5525T>C (n.5869+5525T>C) | |
| 2 | g.21005208A>T | CA345977839 | APOB | c.11660T>A (p.Phe3887Tyr) c.5869+5525T>A (n.5869+5525T>A) | |
| 2 | g.21005209A>C | CA345977840 | APOB | c.11659T>G (p.Phe3887Val) c.5869+5524T>G (n.5869+5524T>G) | |
| 2 | g.21005209A>G | CA345977841 | APOB | c.11659T>C (p.Phe3887Leu) c.5869+5524T>C (n.5869+5524T>C) | |
| 2 | g.21005209A>T | CA345977842 | APOB | c.11659T>A (p.Phe3887Ile) c.5869+5524T>A (n.5869+5524T>A) | |
| 2 | g.21005210G>A | CA047084 | APOB | c.11658C>T (p.Arg3886=) c.5869+5523C>T (n.5869+5523C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005210G>C | CA425342714 | APOB | c.11658C>G (p.Arg3886=) c.5869+5523C>G (n.5869+5523C>G) | |
| 2 | g.21005210G= | CA2493473795 | APOB | c.11658C= (p.Arg3886=) c.5869+5523C= (n.5869+5523C=) | |
| 2 | g.21005210G>T | CA425342715 | APOB | c.11658C>A (p.Arg3886=) c.5869+5523C>A (n.5869+5523C>A) | |
| 2 | g.21005211C>A | CA345977843 | APOB | c.11657G>T (p.Arg3886Leu) c.5869+5522G>T (n.5869+5522G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21005211C= | CA2493473796 | APOB | c.11657G= (p.Arg3886=) c.5869+5522G= (n.5869+5522G=) | |
| 2 | g.21005211C>G | CA345977844 | APOB | c.11657G>C (p.Arg3886Pro) c.5869+5522G>C (n.5869+5522G>C) | |
| 2 | g.21005211C>T | CA345977845 | APOB | c.11657G>A (p.Arg3886His) c.5869+5522G>A (n.5869+5522G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005211_21005212insAC | CA916487975 | APOB | c.11657_11658insTG (p.Phe3887AlafsTer4) c.5869+5522_5869+5523insTG (n.5869+5522_5869+5523insTG) | dbSNP |
| 2 | g.21005212G>A | CA047070 | APOB | c.11656C>T (p.Arg3886Cys) c.5869+5521C>T (n.5869+5521C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005212G>C | CA345977847 | APOB | c.11656C>G (p.Arg3886Gly) c.5869+5521C>G (n.5869+5521C>G) | |
| 2 | g.21005212G= | CA2493473798 | APOB | c.11656C= (p.Arg3886=) c.5869+5521C= (n.5869+5521C=) | |
| 2 | g.21005212G>T | CA345977846 | APOB | c.11656C>A (p.Arg3886Ser) c.5869+5521C>A (n.5869+5521C>A) | |
| 2 | g.21005213T>A | CA425342716 | APOB | c.11655A>T (p.Ala3885=) c.5869+5520A>T (n.5869+5520A>T) | gnomAD v4 |
| 2 | g.21005213T>C | CA425342717 | APOB | c.11655A>G (p.Ala3885=) c.5869+5520A>G (n.5869+5520A>G) | gnomAD v4 |
| 2 | g.21005213T>G | CA425342718 | APOB | c.11655A>C (p.Ala3885=) c.5869+5520A>C (n.5869+5520A>C) | |
| 2 | g.21005214G>A | CA345977848 | APOB | c.11654C>T (p.Ala3885Val) c.5869+5519C>T (n.5869+5519C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.21005214G>C | CA345977850 | APOB | c.11654C>G (p.Ala3885Gly) c.5869+5519C>G (n.5869+5519C>G) | |
| 2 | g.21005214G= | CA2493473800 | APOB | c.11654C= (p.Ala3885=) c.5869+5519C= (n.5869+5519C=) | |
| 2 | g.21005214G>T | CA345977849 | APOB | c.11654C>A (p.Ala3885Glu) c.5869+5519C>A (n.5869+5519C>A) | |
| 2 | g.21005214_21005215delinsAA | CA2586968746 | APOB | c.11653_11654delinsTT (p.Ala3885Leu) c.5869+5518_5869+5519delinsTT (n.5869+5518_5869+5519delinsTT) | |
| 2 | g.21005215C>A | CA345977851 | APOB | c.11653G>T (p.Ala3885Ser) c.5869+5518G>T (n.5869+5518G>T) | ClinVar gnomAD v4 COSMIC |
| 2 | g.21005215C>G | CA345977852 | APOB | c.11653G>C (p.Ala3885Pro) c.5869+5518G>C (n.5869+5518G>C) | |
| 2 | g.21005215C>T | CA345977853 | APOB | c.11653G>A (p.Ala3885Thr) c.5869+5518G>A (n.5869+5518G>A) | |
| 2 | g.21005216A>C | CA425342719 | APOB | c.11652T>G (p.Thr3884=) c.5869+5517T>G (n.5869+5517T>G) | |
| 2 | g.21005216A>G | CA425342720 | APOB | c.11652T>C (p.Thr3884=) c.5869+5517T>C (n.5869+5517T>C) | |
| 2 | g.21005216A>T | CA425342721 | APOB | c.11652T>A (p.Thr3884=) c.5869+5517T>A (n.5869+5517T>A) | |
| 2 | g.21005216_21005218delinsAGT | CA2493473802 | APOB | c.11650_11652delinsACT (p.Thr3884=) c.5869+5515_5869+5517delinsACT (n.5869+5515_5869+5517delinsACT) | |
| 2 | g.21005217G>A | CA047057 | APOB | c.11651C>T (p.Thr3884Ile) c.5869+5516C>T (n.5869+5516C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21005217G>C | CA047041 | APOB | c.11651C>G (p.Thr3884Ser) c.5869+5516C>G (n.5869+5516C>G) | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.21005217G= | CA2493473804 | APOB | c.11651C= (p.Thr3884=) c.5869+5516C= (n.5869+5516C=) | |
| 2 | g.21005217G>T | CA345977854 | APOB | c.11651C>A (p.Thr3884Asn) c.5869+5516C>A (n.5869+5516C>A) | |
| 2 | g.21005217_21005218del | CA047024 | APOB | c.11650_11651del (p.Thr3884CysfsTer4) c.5869+5515_5869+5516del (n.5869+5515_5869+5516del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21005218T>A | CA345977855 | APOB | c.11650A>T (p.Thr3884Ser) c.5869+5515A>T (n.5869+5515A>T) | gnomAD v4 |
| 2 | g.21005218T>C | CA345977856 | APOB | c.11650A>G (p.Thr3884Ala) c.5869+5515A>G (n.5869+5515A>G) | |
| 2 | g.21005218T>G | CA345977857 | APOB | c.11650A>C (p.Thr3884Pro) c.5869+5515A>C (n.5869+5515A>C) | |
| 2 | g.21005219C>A | CA425342724 | APOB | c.11649G>T (p.Leu3883=) c.5869+5514G>T (n.5869+5514G>T) | gnomAD v4 |
| 2 | g.21005219C= | CA2493473805 | APOB | c.11649G= (p.Leu3883=) c.5869+5514G= (n.5869+5514G=) | |
| 2 | g.21005219C>G | CA425342722 | APOB | c.11649G>C (p.Leu3883=) c.5869+5514G>C (n.5869+5514G>C) | |
| 2 | g.21005219C>T | CA425342723 | APOB | c.11649G>A (p.Leu3883=) c.5869+5514G>A (n.5869+5514G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005220A= | CA2493473806 | APOB | c.11648T= (p.Leu3883=) c.5869+5513T= (n.5869+5513T=) | |
| 2 | g.21005220A>C | CA345977858 | APOB | c.11648T>G (p.Leu3883Arg) c.5869+5513T>G (n.5869+5513T>G) | |
| 2 | g.21005220A>G | CA345977859 | APOB | c.11648T>C (p.Leu3883Pro) c.5869+5513T>C (n.5869+5513T>C) | |
| 2 | g.21005220A>T | CA345977860 | APOB | c.11648T>A (p.Leu3883Gln) c.5869+5513T>A (n.5869+5513T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005221G>A | CA425342725 | APOB | c.11647C>T (p.Leu3883=) c.5869+5512C>T (n.5869+5512C>T) | gnomAD v4 |
| 2 | g.21005221G>C | CA345977861 | APOB | c.11647C>G (p.Leu3883Val) c.5869+5512C>G (n.5869+5512C>G) | |
| 2 | g.21005221G>T | CA345977862 | APOB | c.11647C>A (p.Leu3883Met) c.5869+5512C>A (n.5869+5512C>A) | |
| 2 | g.21005222T>A | CA425342726 | APOB | c.11646A>T (p.Ala3882=) c.5869+5511A>T (n.5869+5511A>T) | |
| 2 | g.21005222T>C | CA425342727 | APOB | c.11646A>G (p.Ala3882=) c.5869+5511A>G (n.5869+5511A>G) | |
| 2 | g.21005222T>G | CA425342728 | APOB | c.11646A>C (p.Ala3882=) c.5869+5511A>C (n.5869+5511A>C) | |
| 2 | g.21005223G>A | CA345977863 | APOB | c.11645C>T (p.Ala3882Val) c.5869+5510C>T (n.5869+5510C>T) | |
| 2 | g.21005223G>C | CA345977864 | APOB | c.11645C>G (p.Ala3882Gly) c.5869+5510C>G (n.5869+5510C>G) | |
| 2 | g.21005223G= | CA2493473808 | APOB | c.11645C= (p.Ala3882=) c.5869+5510C= (n.5869+5510C=) | |
| 2 | g.21005223G>T | CA047018 | APOB | c.11645C>A (p.Ala3882Glu) c.5869+5510C>A (n.5869+5510C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21005224C>A | CA345977865 | APOB | c.11644G>T (p.Ala3882Ser) c.5869+5509G>T (n.5869+5509G>T) | |
| 2 | g.21005224C>G | CA345977866 | APOB | c.11644G>C (p.Ala3882Pro) c.5869+5509G>C (n.5869+5509G>C) | |
| 2 | g.21005224C>T | CA345977867 | APOB | c.11644G>A (p.Ala3882Thr) c.5869+5509G>A (n.5869+5509G>A) | gnomAD v4 |
| 2 | g.21005225T>A | CA345977868 | APOB | c.11643A>T (p.Gln3881His) c.5869+5508A>T (n.5869+5508A>T) | |
| 2 | g.21005225T>C | CA425342729 | APOB | c.11643A>G (p.Gln3881=) c.5869+5508A>G (n.5869+5508A>G) | |
| 2 | g.21005225T>G | CA345977869 | APOB | c.11643A>C (p.Gln3881His) c.5869+5508A>C (n.5869+5508A>C) | |
| 2 | g.21005226T>A | CA345977870 | APOB | c.11642A>T (p.Gln3881Leu) c.5869+5507A>T (n.5869+5507A>T) | |
| 2 | g.21005226T>C | CA345977871 | APOB | c.11642A>G (p.Gln3881Arg) c.5869+5507A>G (n.5869+5507A>G) | dbSNP |
| 2 | g.21005226T>G | CA345977872 | APOB | c.11642A>C (p.Gln3881Pro) c.5869+5507A>C (n.5869+5507A>C) | |
| 2 | g.21005226T= | CA2493473809 | APOB | c.11642A= (p.Gln3881=) c.5869+5507A= (n.5869+5507A=) | |
| 2 | g.21005227G>A | CA047011 | APOB | c.11641C>T (p.Gln3881Ter) c.5869+5506C>T (n.5869+5506C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21005227G>C | CA345977874 | APOB | c.11641C>G (p.Gln3881Glu) c.5869+5506C>G (n.5869+5506C>G) | dbSNP gnomAD v4 |
| 2 | g.21005227G= | CA2493473811 | APOB | c.11641C= (p.Gln3881=) c.5869+5506C= (n.5869+5506C=) | |
| 2 | g.21005227G>T | CA345977873 | APOB | c.11641C>A (p.Gln3881Lys) c.5869+5506C>A (n.5869+5506C>A) | |
| 2 | g.21005230_21005234del | CA2658074674 | APOB | c.11637_11641del (p.Phe3880SerfsTer7) c.5869+5502_5869+5506del (n.5869+5502_5869+5506del) | gnomAD v4 |
| 2 | g.21005228A= | CA2493473812 | APOB | c.11640T= (p.Phe3880=) c.5869+5505T= (n.5869+5505T=) | |
| 2 | g.21005228A>C | CA345977875 | APOB | c.11640T>G (p.Phe3880Leu) c.5869+5505T>G (n.5869+5505T>G) | |
| 2 | g.21005228A>G | CA425342730 | APOB | c.11640T>C (p.Phe3880=) c.5869+5505T>C (n.5869+5505T>C) | dbSNP |
| 2 | g.21005228A>T | CA345977876 | APOB | c.11640T>A (p.Phe3880Leu) c.5869+5505T>A (n.5869+5505T>A) | |
| 2 | g.21005229A= | CA2493473814 | APOB | c.11639T= (p.Phe3880=) c.5869+5504T= (n.5869+5504T=) | |
| 2 | g.21005229A>C | CA345977877 | APOB | c.11639T>G (p.Phe3880Cys) c.5869+5504T>G (n.5869+5504T>G) | |
| 2 | g.21005229A>G | CA345977878 | APOB | c.11639T>C (p.Phe3880Ser) c.5869+5504T>C (n.5869+5504T>C) | |
| 2 | g.21005229A>T | CA345977879 | APOB | c.11639T>A (p.Phe3880Tyr) c.5869+5504T>A (n.5869+5504T>A) | dbSNP |
| 2 | g.21005230A>C | CA345977882 | APOB | c.11638T>G (p.Phe3880Val) c.5869+5503T>G (n.5869+5503T>G) | |
| 2 | g.21005230A>G | CA345977881 | APOB | c.11638T>C (p.Phe3880Leu) c.5869+5503T>C (n.5869+5503T>C) | |
| 2 | g.21005230A>T | CA345977880 | APOB | c.11638T>A (p.Phe3880Ile) c.5869+5503T>A (n.5869+5503T>A) | |
| 2 | g.21005231G>A | CA425342731 | APOB | c.11637C>T (p.Ser3879=) c.5869+5502C>T (n.5869+5502C>T) | ClinVar COSMIC |
| 2 | g.21005231G>C | CA425342733 | APOB | c.11637C>G (p.Ser3879=) c.5869+5502C>G (n.5869+5502C>G) | |
| 2 | g.21005231G>T | CA425342732 | APOB | c.11637C>A (p.Ser3879=) c.5869+5502C>A (n.5869+5502C>A) | |
| 2 | g.21005232G>A | CA345977883 | APOB | c.11636C>T (p.Ser3879Phe) c.5869+5501C>T (n.5869+5501C>T) | dbSNP COSMIC |
| 2 | g.21005232G>C | CA345977884 | APOB | c.11636C>G (p.Ser3879Cys) c.5869+5501C>G (n.5869+5501C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21005232G= | CA2493473816 | APOB | c.11636C= (p.Ser3879=) c.5869+5501C= (n.5869+5501C=) | |
| 2 | g.21005232G>T | CA345977885 | APOB | c.11636C>A (p.Ser3879Tyr) c.5869+5501C>A (n.5869+5501C>A) | |
| 2 | g.21005233A>C | CA345977886 | APOB | c.11635T>G (p.Ser3879Ala) c.5869+5500T>G (n.5869+5500T>G) | |
| 2 | g.21005233A>G | CA345977887 | APOB | c.11635T>C (p.Ser3879Pro) c.5869+5500T>C (n.5869+5500T>C) | |
| 2 | g.21005233A>T | CA345977888 | APOB | c.11635T>A (p.Ser3879Thr) c.5869+5500T>A (n.5869+5500T>A) | |
| 2 | g.21005234A>C | CA425342734 | APOB | c.11634T>G (p.Pro3878=) c.5869+5499T>G (n.5869+5499T>G) | |
| 2 | g.21005234A>G | CA425342735 | APOB | c.11634T>C (p.Pro3878=) c.5869+5499T>C (n.5869+5499T>C) | |
| 2 | g.21005234A>T | CA425342736 | APOB | c.11634T>A (p.Pro3878=) c.5869+5499T>A (n.5869+5499T>A) | |
| 2 | g.21005235G>A | CA345977889 | APOB | c.11633C>T (p.Pro3878Leu) c.5869+5498C>T (n.5869+5498C>T) | dbSNP |
| 2 | g.21005235G>C | CA345977891 | APOB | c.11633C>G (p.Pro3878Arg) c.5869+5498C>G (n.5869+5498C>G) | |
| 2 | g.21005235G= | CA2493473818 | APOB | c.11633C= (p.Pro3878=) c.5869+5498C= (n.5869+5498C=) | |
| 2 | g.21005235G>T | CA345977890 | APOB | c.11633C>A (p.Pro3878His) c.5869+5498C>A (n.5869+5498C>A) | |
| 2 | g.21005236G>A | CA345977892 | APOB | c.11632C>T (p.Pro3878Ser) c.5869+5497C>T (n.5869+5497C>T) | gnomAD v4 |
| 2 | g.21005236G>C | CA345977893 | APOB | c.11632C>G (p.Pro3878Ala) c.5869+5497C>G (n.5869+5497C>G) | |
| 2 | g.21005236G>T | CA345977894 | APOB | c.11632C>A (p.Pro3878Thr) c.5869+5497C>A (n.5869+5497C>A) | |
| 2 | g.21005237A>C | CA345977895 | APOB | c.11631T>G (p.Ile3877Met) c.5869+5496T>G (n.5869+5496T>G) | |
| 2 | g.21005237A>G | CA425342737 | APOB | c.11631T>C (p.Ile3877=) c.5869+5496T>C (n.5869+5496T>C) | |
| 2 | g.21005237A>T | CA425342738 | APOB | c.11631T>A (p.Ile3877=) c.5869+5496T>A (n.5869+5496T>A) | |
| 2 | g.21005238A= | CA2493473819 | APOB | c.11630T= (p.Ile3877=) c.5869+5495T= (n.5869+5495T=) | |
| 2 | g.21005238A>C | CA345977896 | APOB | c.11630T>G (p.Ile3877Ser) c.5869+5495T>G (n.5869+5495T>G) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21005238A>G | CA345977897 | APOB | c.11630T>C (p.Ile3877Thr) c.5869+5495T>C (n.5869+5495T>C) | ClinVar |
| 2 | g.21005238A>T | CA345977898 | APOB | c.11630T>A (p.Ile3877Asn) c.5869+5495T>A (n.5869+5495T>A) | |
| 2 | g.21005239T>A | CA345977899 | APOB | c.11629A>T (p.Ile3877Phe) c.5869+5494A>T (n.5869+5494A>T) | gnomAD v4 |
| 2 | g.21005239T>C | CA345977900 | APOB | c.11629A>G (p.Ile3877Val) c.5869+5494A>G (n.5869+5494A>G) | gnomAD v4 |
| 2 | g.21005239T>G | CA345977901 | APOB | c.11629A>C (p.Ile3877Leu) c.5869+5494A>C (n.5869+5494A>C) | |
| 2 | g.21005240G>A | CA425342741 | APOB | c.11628C>T (p.Val3876=) c.5869+5493C>T (n.5869+5493C>T) | dbSNP |
| 2 | g.21005240G>C | CA425342739 | APOB | c.11628C>G (p.Val3876=) c.5869+5493C>G (n.5869+5493C>G) | |
| 2 | g.21005240G= | CA2493473821 | APOB | c.11628C= (p.Val3876=) c.5869+5493C= (n.5869+5493C=) | |
| 2 | g.21005240G>T | CA425342740 | APOB | c.11628C>A (p.Val3876=) c.5869+5493C>A (n.5869+5493C>A) | |
| 2 | g.21005241A>C | CA345977902 | APOB | c.11627T>G (p.Val3876Gly) c.5869+5492T>G (n.5869+5492T>G) | |
| 2 | g.21005241A>G | CA345977903 | APOB | c.11627T>C (p.Val3876Ala) c.5869+5492T>C (n.5869+5492T>C) | |
| 2 | g.21005241A>T | CA345977904 | APOB | c.11627T>A (p.Val3876Asp) c.5869+5492T>A (n.5869+5492T>A) | |
| 2 | g.21005242C>A | CA43491602 | APOB | c.11626G>T (p.Val3876Phe) c.5869+5491G>T (n.5869+5491G>T) | dbSNP |
| 2 | g.21005242C= | CA2493473823 | APOB | c.11626G= (p.Val3876=) c.5869+5491G= (n.5869+5491G=) | |
| 2 | g.21005242C>G | CA345977906 | APOB | c.11626G>C (p.Val3876Leu) c.5869+5491G>C (n.5869+5491G>C) | |
| 2 | g.21005242C>T | CA345977905 | APOB | c.11626G>A (p.Val3876Ile) c.5869+5491G>A (n.5869+5491G>A) | gnomAD v4 |
| 2 | g.21005243A>C | CA345977907 | APOB | c.11625T>G (p.Ile3875Met) c.5869+5490T>G (n.5869+5490T>G) | |
| 2 | g.21005243A>G | CA425342742 | APOB | c.11625T>C (p.Ile3875=) c.5869+5490T>C (n.5869+5490T>C) | gnomAD v4 |
| 2 | g.21005243A>T | CA425342743 | APOB | c.11625T>A (p.Ile3875=) c.5869+5490T>A (n.5869+5490T>A) | |
| 2 | g.21005244A= | CA2493473824 | APOB | c.11624T= (p.Ile3875=) c.5869+5489T= (n.5869+5489T=) | |
| 2 | g.21005244A>C | CA345977908 | APOB | c.11624T>G (p.Ile3875Ser) c.5869+5489T>G (n.5869+5489T>G) | |
| 2 | g.21005244A>G | CA345977910 | APOB | c.11624T>C (p.Ile3875Thr) c.5869+5489T>C (n.5869+5489T>C) | dbSNP gnomAD v4 |
| 2 | g.21005244A>T | CA345977909 | APOB | c.11624T>A (p.Ile3875Asn) c.5869+5489T>A (n.5869+5489T>A) | gnomAD v4 |
| 2 | g.21005245T>A | CA345977911 | APOB | c.11623A>T (p.Ile3875Phe) c.5869+5488A>T (n.5869+5488A>T) | |
| 2 | g.21005245T>C | CA345977913 | APOB | c.11623A>G (p.Ile3875Val) c.5869+5488A>G (n.5869+5488A>G) | dbSNP |
| 2 | g.21005245T>G | CA345977912 | APOB | c.11623A>C (p.Ile3875Leu) c.5869+5488A>C (n.5869+5488A>C) | |
| 2 | g.21005245T= | CA2493473826 | APOB | c.11623A= (p.Ile3875=) c.5869+5488A= (n.5869+5488A=) | |
| 2 | g.21005246T>A | CA425342744 | APOB | c.11622A>T (p.Gly3874=) c.5869+5487A>T (n.5869+5487A>T) | |
| 2 | g.21005246T>C | CA425342745 | APOB | c.11622A>G (p.Gly3874=) c.5869+5487A>G (n.5869+5487A>G) | dbSNP |
| 2 | g.21005246T>G | CA425342746 | APOB | c.11622A>C (p.Gly3874=) c.5869+5487A>C (n.5869+5487A>C) | |
| 2 | g.21005246T= | CA2493473829 | APOB | c.11622A= (p.Gly3874=) c.5869+5487A= (n.5869+5487A=) | |
| 2 | g.21005247C>A | CA345977914 | APOB | c.11621G>T (p.Gly3874Val) c.5869+5486G>T (n.5869+5486G>T) | |
| 2 | g.21005247C= | CA2493473831 | APOB | c.11621G= (p.Gly3874=) c.5869+5486G= (n.5869+5486G=) | |
| 2 | g.21005247C>G | CA345977915 | APOB | c.11621G>C (p.Gly3874Ala) c.5869+5486G>C (n.5869+5486G>C) | |
| 2 | g.21005247C>T | CA047002 | APOB | c.11621G>A (p.Gly3874Glu) c.5869+5486G>A (n.5869+5486G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21005248C>A | CA345977916 | APOB | c.11620G>T (p.Gly3874Ter) c.5869+5485G>T (n.5869+5485G>T) | |
| 2 | g.21005248C>G | CA345977918 | APOB | c.11620G>C (p.Gly3874Arg) c.5869+5485G>C (n.5869+5485G>C) | |
| 2 | g.21005248C>T | CA345977917 | APOB | c.11620G>A (p.Gly3874Arg) c.5869+5485G>A (n.5869+5485G>A) | gnomAD v4 |
| 2 | g.21005249A>C | CA425342747 | APOB | c.11619T>G (p.Ala3873=) c.5869+5484T>G (n.5869+5484T>G) | |
| 2 | g.21005249A>G | CA425342748 | APOB | c.11619T>C (p.Ala3873=) c.5869+5484T>C (n.5869+5484T>C) | |
| 2 | g.21005249A>T | CA425342749 | APOB | c.11619T>A (p.Ala3873=) c.5869+5484T>A (n.5869+5484T>A) | |
| 2 | g.21005250G>A | CA345977919 | APOB | c.11618C>T (p.Ala3873Val) c.5869+5483C>T (n.5869+5483C>T) | dbSNP |
| 2 | g.21005250G>C | CA345977920 | APOB | c.11618C>G (p.Ala3873Gly) c.5869+5483C>G (n.5869+5483C>G) | |
| 2 | g.21005250G= | CA2493473833 | APOB | c.11618C= (p.Ala3873=) c.5869+5483C= (n.5869+5483C=) | |
| 2 | g.21005250G>T | CA345977921 | APOB | c.11618C>A (p.Ala3873Asp) c.5869+5483C>A (n.5869+5483C>A) | |
| 2 | g.21005251C>A | CA345977922 | APOB | c.11617G>T (p.Ala3873Ser) c.5869+5482G>T (n.5869+5482G>T) | |
| 2 | g.21005251C>G | CA345977923 | APOB | c.11617G>C (p.Ala3873Pro) c.5869+5482G>C (n.5869+5482G>C) | |
| 2 | g.21005251C>T | CA345977924 | APOB | c.11617G>A (p.Ala3873Thr) c.5869+5482G>A (n.5869+5482G>A) | |
| 2 | g.21005251_21005259delinsCAGGTACAG | CA2493473835 | APOB | c.11609_11617delinsCTGTACCTG (p.Ser3870=) c.5869+5474_5869+5482delinsCTGTACCTG (n.5869+5474_5869+5482delinsCTGTACCTG) | |
| 2 | g.21005252A>C | CA425342751 | APOB | c.11616T>G (p.Pro3872=) c.5869+5481T>G (n.5869+5481T>G) | |
| 2 | g.21005252A>G | CA425342752 | APOB | c.11616T>C (p.Pro3872=) c.5869+5481T>C (n.5869+5481T>C) | |
| 2 | g.21005252A>T | CA425342753 | APOB | c.11616T>A (p.Pro3872=) c.5869+5481T>A (n.5869+5481T>A) | |
| 2 | g.21005254_21005261del | CA2493473837 | APOB | c.11609_11616del (p.Ser3870CysfsTer16) c.5869+5474_5869+5481del (n.5869+5474_5869+5481del) | dbSNP |
| 2 | g.21005253G>A | CA345977925 | APOB | c.11615C>T (p.Pro3872Leu) c.5869+5480C>T (n.5869+5480C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21005253G>C | CA345977926 | APOB | c.11615C>G (p.Pro3872Arg) c.5869+5480C>G (n.5869+5480C>G) | |
| 2 | g.21005253G= | CA2493473838 | APOB | c.11615C= (p.Pro3872=) c.5869+5480C= (n.5869+5480C=) | |
| 2 | g.21005253G>T | CA345977927 | APOB | c.11615C>A (p.Pro3872His) c.5869+5480C>A (n.5869+5480C>A) | |
| 2 | g.21005254G>A | CA345977928 | APOB | c.11614C>T (p.Pro3872Ser) c.5869+5479C>T (n.5869+5479C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21005254G>C | CA345977929 | APOB | c.11614C>G (p.Pro3872Ala) c.5869+5479C>G (n.5869+5479C>G) | |
| 2 | g.21005254G= | CA2493473840 | APOB | c.11614C= (p.Pro3872=) c.5869+5479C= (n.5869+5479C=) | |
| 2 | g.21005254G>T | CA345977930 | APOB | c.11614C>A (p.Pro3872Thr) c.5869+5479C>A (n.5869+5479C>A) | |
| 2 | g.21005255T>A | CA425342755 | APOB | c.11613A>T (p.Val3871=) c.5869+5478A>T (n.5869+5478A>T) | gnomAD v4 |
| 2 | g.21005255T>C | CA046991 | APOB | c.11613A>G (p.Val3871=) c.5869+5478A>G (n.5869+5478A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21005255T>G | CA425342756 | APOB | c.11613A>C (p.Val3871=) c.5869+5478A>C (n.5869+5478A>C) | |
| 2 | g.21005255T= | CA2493473841 | APOB | c.11613A= (p.Val3871=) c.5869+5478A= (n.5869+5478A=) | |
| 2 | g.21005256A>C | CA345977931 | APOB | c.11612T>G (p.Val3871Gly) c.5869+5477T>G (n.5869+5477T>G) | |
| 2 | g.21005256A>G | CA345977932 | APOB | c.11612T>C (p.Val3871Ala) c.5869+5477T>C (n.5869+5477T>C) | ClinVar gnomAD v4 |
| 2 | g.21005256A>T | CA345977933 | APOB | c.11612T>A (p.Val3871Glu) c.5869+5477T>A (n.5869+5477T>A) | |
| 2 | g.21005257C>A | CA345977934 | APOB | c.11611G>T (p.Val3871Leu) c.5869+5476G>T (n.5869+5476G>T) | |
| 2 | g.21005257C= | CA2493473842 | APOB | c.11611G= (p.Val3871=) c.5869+5476G= (n.5869+5476G=) | |
| 2 | g.21005257C>G | CA345977935 | APOB | c.11611G>C (p.Val3871Leu) c.5869+5476G>C (n.5869+5476G>C) | |
| 2 | g.21005257C>T | CA345977936 | APOB | c.11611G>A (p.Val3871Ile) c.5869+5476G>A (n.5869+5476G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21005258A= | CA2493473844 | APOB | c.11610T= (p.Ser3870=) c.5869+5475T= (n.5869+5475T=) | |
| 2 | g.21005258A>C | CA425342758 | APOB | c.11610T>G (p.Ser3870=) c.5869+5475T>G (n.5869+5475T>G) | |
| 2 | g.21005258A>G | CA425342759 | APOB | c.11610T>C (p.Ser3870=) c.5869+5475T>C (n.5869+5475T>C) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21005258A>T | CA425342760 | APOB | c.11610T>A (p.Ser3870=) c.5869+5475T>A (n.5869+5475T>A) | |
| 2 | g.21005259G>A | CA345977937 | APOB | c.11609C>T (p.Ser3870Phe) c.5869+5474C>T (n.5869+5474C>T) | dbSNP COSMIC |
| 2 | g.21005259G>C | CA345977938 | APOB | c.11609C>G (p.Ser3870Cys) c.5869+5474C>G (n.5869+5474C>G) | |
| 2 | g.21005259G= | CA2493473845 | APOB | c.11609C= (p.Ser3870=) c.5869+5474C= (n.5869+5474C=) | |
| 2 | g.21005259G>T | CA345977939 | APOB | c.11609C>A (p.Ser3870Tyr) c.5869+5474C>A (n.5869+5474C>A) | |
| 2 | g.21005260A>C | CA345977940 | APOB | c.11608T>G (p.Ser3870Ala) c.5869+5473T>G (n.5869+5473T>G) | |
| 2 | g.21005260A>G | CA345977941 | APOB | c.11608T>C (p.Ser3870Pro) c.5869+5473T>C (n.5869+5473T>C) | |
| 2 | g.21005260A>T | CA345977942 | APOB | c.11608T>A (p.Ser3870Thr) c.5869+5473T>A (n.5869+5473T>A) | |
| 2 | g.21005261G>A | CA425342764 | APOB | c.11607C>T (p.Phe3869=) c.5869+5472C>T (n.5869+5472C>T) | dbSNP gnomAD v4 COSMIC |
| 2 | g.21005261G>C | CA345977944 | APOB | c.11607C>G (p.Phe3869Leu) c.5869+5472C>G (n.5869+5472C>G) | |
| 2 | g.21005261G= | CA2493473847 | APOB | c.11607C= (p.Phe3869=) c.5869+5472C= (n.5869+5472C=) | |
| 2 | g.21005261G>T | CA345977943 | APOB | c.11607C>A (p.Phe3869Leu) c.5869+5472C>A (n.5869+5472C>A) | dbSNP gnomAD v4 COSMIC |
| 2 | g.21005262A>C | CA345977945 | APOB | c.11606T>G (p.Phe3869Cys) c.5869+5471T>G (n.5869+5471T>G) | |
| 2 | g.21005262A>G | CA345977946 | APOB | c.11606T>C (p.Phe3869Ser) c.5869+5471T>C (n.5869+5471T>C) | |
| 2 | g.21005262A>T | CA345977947 | APOB | c.11606T>A (p.Phe3869Tyr) c.5869+5471T>A (n.5869+5471T>A) | |
| 2 | g.21005263A>C | CA345977948 | APOB | c.11605T>G (p.Phe3869Val) c.5869+5470T>G (n.5869+5470T>G) | |
| 2 | g.21005263A>G | CA345977949 | APOB | c.11605T>C (p.Phe3869Leu) c.5869+5470T>C (n.5869+5470T>C) | |
| 2 | g.21005263A>T | CA345977950 | APOB | c.11605T>A (p.Phe3869Ile) c.5869+5470T>A (n.5869+5470T>A) | |
| 2 | g.21005264C>A | CA345977951 | APOB | c.11604G>T (p.Lys3868Asn) c.5869+5469G>T (n.5869+5469G>T) | |
| 2 | g.21005264C>G | CA345977952 | APOB | c.11604G>C (p.Lys3868Asn) c.5869+5469G>C (n.5869+5469G>C) | |
| 2 | g.21005264C>T | CA425342765 | APOB | c.11604G>A (p.Lys3868=) c.5869+5469G>A (n.5869+5469G>A) | |
| 2 | g.21005265T>A | CA345977953 | APOB | c.11603A>T (p.Lys3868Met) c.5869+5468A>T (n.5869+5468A>T) | |
| 2 | g.21005265T>C | CA345977954 | APOB | c.11603A>G (p.Lys3868Arg) c.5869+5468A>G (n.5869+5468A>G) | |
| 2 | g.21005265T>G | CA345977955 | APOB | c.11603A>C (p.Lys3868Thr) c.5869+5468A>C (n.5869+5468A>C) | |
| 2 | g.21005265T= | CA2493473850 | APOB | c.11603A= (p.Lys3868=) c.5869+5468A= (n.5869+5468A=) | |
| 2 | g.21005265_21005266insC | CA916487976 | APOB | c.11602_11603insG (p.Lys3868ArgfsTer21) c.5869+5467_5869+5468insG (n.5869+5467_5869+5468insG) | dbSNP |
| 2 | g.21005266T>A | CA345977956 | APOB | c.11602A>T (p.Lys3868Ter) c.5869+5467A>T (n.5869+5467A>T) | |
| 2 | g.21005266T>C | CA345977957 | APOB | c.11602A>G (p.Lys3868Glu) c.5869+5467A>G (n.5869+5467A>G) | dbSNP |
| 2 | g.21005266T>G | CA43491629 | APOB | c.11602A>C (p.Lys3868Gln) c.5869+5467A>C (n.5869+5467A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21005266T= | CA2493473852 | APOB | c.11602A= (p.Lys3868=) c.5869+5467A= (n.5869+5467A=) | |
| 2 | g.21005267A>C | CA345977958 | APOB | c.11601T>G (p.Ile3867Met) c.5869+5466T>G (n.5869+5466T>G) | |
| 2 | g.21005267A>G | CA425342769 | APOB | c.11601T>C (p.Ile3867=) c.5869+5466T>C (n.5869+5466T>C) | |
| 2 | g.21005267A>T | CA425342768 | APOB | c.11601T>A (p.Ile3867=) c.5869+5466T>A (n.5869+5466T>A) |