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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.21006200_21006202dup | CA2658075771 | APOB | c.10667_10669dup (p.Leu3556_Gln3557insLeu) c.5869+4532_5869+4534dup (n.5869+4532_5869+4534dup) | gnomAD v4 |
| 2 | g.21006201A>C | CA345985683 | APOB | c.10667T>G (p.Leu3556Arg) c.5869+4532T>G (n.5869+4532T>G) | |
| 2 | g.21006201A>G | CA345985685 | APOB | c.10667T>C (p.Leu3556Pro) c.5869+4532T>C (n.5869+4532T>C) | |
| 2 | g.21006201A>T | CA345985686 | APOB | c.10667T>A (p.Leu3556His) c.5869+4532T>A (n.5869+4532T>A) | |
| 2 | g.21006202G>A | CA044300 | APOB | c.10666C>T (p.Leu3556Phe) c.5869+4531C>T (n.5869+4531C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006202G>C | CA345985690 | APOB | c.10666C>G (p.Leu3556Val) c.5869+4531C>G (n.5869+4531C>G) | |
| 2 | g.21006202G= | CA2493474673 | APOB | c.10666C= (p.Leu3556=) c.5869+4531C= (n.5869+4531C=) | |
| 2 | g.21006202G>T | CA044279 | APOB | c.10666C>A (p.Leu3556Ile) c.5869+4531C>A (n.5869+4531C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006203T>A | CA43495253 | APOB | c.10665A>T (p.Thr3555=) c.5869+4530A>T (n.5869+4530A>T) | dbSNP |
| 2 | g.21006203T>C | CA044264 | APOB | c.10665A>G (p.Thr3555=) c.5869+4530A>G (n.5869+4530A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006203T>G | CA425343757 | APOB | c.10665A>C (p.Thr3555=) c.5869+4530A>C (n.5869+4530A>C) | |
| 2 | g.21006203T= | CA2493474674 | APOB | c.10665A= (p.Thr3555=) c.5869+4530A= (n.5869+4530A=) | |
| 2 | g.21006204G>A | CA345985698 | APOB | c.10664C>T (p.Thr3555Ile) c.5869+4529C>T (n.5869+4529C>T) | |
| 2 | g.21006204G>C | CA345985701 | APOB | c.10664C>G (p.Thr3555Arg) c.5869+4529C>G (n.5869+4529C>G) | |
| 2 | g.21006204G= | CA2493474675 | APOB | c.10664C= (p.Thr3555=) c.5869+4529C= (n.5869+4529C=) | |
| 2 | g.21006204G>T | CA345985703 | APOB | c.10664C>A (p.Thr3555Lys) c.5869+4529C>A (n.5869+4529C>A) | dbSNP gnomAD v4 |
| 2 | g.21006205T>A | CA345985705 | APOB | c.10663A>T (p.Thr3555Ser) c.5869+4528A>T (n.5869+4528A>T) | |
| 2 | g.21006205T>C | CA345985707 | APOB | c.10663A>G (p.Thr3555Ala) c.5869+4528A>G (n.5869+4528A>G) | |
| 2 | g.21006205T>G | CA345985709 | APOB | c.10663A>C (p.Thr3555Pro) c.5869+4528A>C (n.5869+4528A>C) | |
| 2 | g.21006206G>A | CA425343764 | APOB | c.10662C>T (p.Ala3554=) c.5869+4527C>T (n.5869+4527C>T) | ClinVar |
| 2 | g.21006206G>C | CA425343766 | APOB | c.10662C>G (p.Ala3554=) c.5869+4527C>G (n.5869+4527C>G) | |
| 2 | g.21006206G>T | CA425343765 | APOB | c.10662C>A (p.Ala3554=) c.5869+4527C>A (n.5869+4527C>A) | |
| 2 | g.21006207G>A | CA345985713 | APOB | c.10661C>T (p.Ala3554Val) c.5869+4526C>T (n.5869+4526C>T) | ClinVar |
| 2 | g.21006207G>C | CA345985718 | APOB | c.10661C>G (p.Ala3554Gly) c.5869+4526C>G (n.5869+4526C>G) | |
| 2 | g.21006207G>T | CA345985715 | APOB | c.10661C>A (p.Ala3554Asp) c.5869+4526C>A (n.5869+4526C>A) | |
| 2 | g.21006208C>A | CA345985720 | APOB | c.10660G>T (p.Ala3554Ser) c.5869+4525G>T (n.5869+4525G>T) | |
| 2 | g.21006208C>G | CA345985722 | APOB | c.10660G>C (p.Ala3554Pro) c.5869+4525G>C (n.5869+4525G>C) | |
| 2 | g.21006208C>T | CA345985723 | APOB | c.10660G>A (p.Ala3554Thr) c.5869+4525G>A (n.5869+4525G>A) | gnomAD v4 |
| 2 | g.21006209T>A | CA345985725 | APOB | c.10659A>T (p.Glu3553Asp) c.5869+4524A>T (n.5869+4524A>T) | |
| 2 | g.21006209T>C | CA425343770 | APOB | c.10659A>G (p.Glu3553=) c.5869+4524A>G (n.5869+4524A>G) | |
| 2 | g.21006209T>G | CA345985727 | APOB | c.10659A>C (p.Glu3553Asp) c.5869+4524A>C (n.5869+4524A>C) | |
| 2 | g.21006210T>A | CA345985730 | APOB | c.10658A>T (p.Glu3553Val) c.5869+4523A>T (n.5869+4523A>T) | |
| 2 | g.21006210T>C | CA345985732 | APOB | c.10658A>G (p.Glu3553Gly) c.5869+4523A>G (n.5869+4523A>G) | |
| 2 | g.21006210T>G | CA345985734 | APOB | c.10658A>C (p.Glu3553Ala) c.5869+4523A>C (n.5869+4523A>C) | |
| 2 | g.21006211C>A | CA345985736 | APOB | c.10657G>T (p.Glu3553Ter) c.5869+4522G>T (n.5869+4522G>T) | |
| 2 | g.21006211C= | CA2493474676 | APOB | c.10657G= (p.Glu3553=) c.5869+4522G= (n.5869+4522G=) | |
| 2 | g.21006211C>G | CA345985739 | APOB | c.10657G>C (p.Glu3553Gln) c.5869+4522G>C (n.5869+4522G>C) | |
| 2 | g.21006211C>T | CA044247 | APOB | c.10657G>A (p.Glu3553Lys) c.5869+4522G>A (n.5869+4522G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006212T>A | CA425343264 | APOB | c.10656A>T (p.Gly3552=) c.5869+4521A>T (n.5869+4521A>T) | |
| 2 | g.21006212T>C | CA044229 | APOB | c.10656A>G (p.Gly3552=) c.5869+4521A>G (n.5869+4521A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006212T>G | CA425343265 | APOB | c.10656A>C (p.Gly3552=) c.5869+4521A>C (n.5869+4521A>C) | |
| 2 | g.21006212T= | CA2493474677 | APOB | c.10656A= (p.Gly3552=) c.5869+4521A= (n.5869+4521A=) | |
| 2 | g.21006213C>A | CA345985745 | APOB | c.10655G>T (p.Gly3552Val) c.5869+4520G>T (n.5869+4520G>T) | |
| 2 | g.21006213C= | CA2493474678 | APOB | c.10655G= (p.Gly3552=) c.5869+4520G= (n.5869+4520G=) | |
| 2 | g.21006213C>G | CA345985743 | APOB | c.10655G>C (p.Gly3552Ala) c.5869+4520G>C (n.5869+4520G>C) | |
| 2 | g.21006213C>T | CA345985747 | APOB | c.10655G>A (p.Gly3552Glu) c.5869+4520G>A (n.5869+4520G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006214C>A | CA345985751 | APOB | c.10654G>T (p.Gly3552Ter) c.5869+4519G>T (n.5869+4519G>T) | |
| 2 | g.21006214C= | CA2493474679 | APOB | c.10654G= (p.Gly3552=) c.5869+4519G= (n.5869+4519G=) | |
| 2 | g.21006214C>G | CA345985757 | APOB | c.10654G>C (p.Gly3552Arg) c.5869+4519G>C (n.5869+4519G>C) | |
| 2 | g.21006214C>T | CA345985754 | APOB | c.10654G>A (p.Gly3552Arg) c.5869+4519G>A (n.5869+4519G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006215A= | CA2493474680 | APOB | c.10653T= (p.Ala3551=) c.5869+4518T= (n.5869+4518T=) | |
| 2 | g.21006215A>C | CA425343277 | APOB | c.10653T>G (p.Ala3551=) c.5869+4518T>G (n.5869+4518T>G) | dbSNP |
| 2 | g.21006215A>G | CA425343281 | APOB | c.10653T>C (p.Ala3551=) c.5869+4518T>C (n.5869+4518T>C) | gnomAD v4 |
| 2 | g.21006215A>T | CA425343283 | APOB | c.10653T>A (p.Ala3551=) c.5869+4518T>A (n.5869+4518T>A) | |
| 2 | g.21006216G>A | CA345985759 | APOB | c.10652C>T (p.Ala3551Val) c.5869+4517C>T (n.5869+4517C>T) | |
| 2 | g.21006216G>C | CA345985764 | APOB | c.10652C>G (p.Ala3551Gly) c.5869+4517C>G (n.5869+4517C>G) | |
| 2 | g.21006216G>T | CA345985762 | APOB | c.10652C>A (p.Ala3551Asp) c.5869+4517C>A (n.5869+4517C>A) | |
| 2 | g.21006217del | CA2576686491 | APOB | c.10651del (p.Ala3551LeufsTer23) c.5869+4516del (n.5869+4516del) | |
| 2 | g.21006217C>A | CA345985766 | APOB | c.10651G>T (p.Ala3551Ser) c.5869+4516G>T (n.5869+4516G>T) | |
| 2 | g.21006217C>G | CA345985769 | APOB | c.10651G>C (p.Ala3551Pro) c.5869+4516G>C (n.5869+4516G>C) | |
| 2 | g.21006217C>T | CA345985770 | APOB | c.10651G>A (p.Ala3551Thr) c.5869+4516G>A (n.5869+4516G>A) | gnomAD v4 |
| 2 | g.21006218A>C | CA345985771 | APOB | c.10650T>G (p.Phe3550Leu) c.5869+4515T>G (n.5869+4515T>G) | |
| 2 | g.21006218A>G | CA425343291 | APOB | c.10650T>C (p.Phe3550=) c.5869+4515T>C (n.5869+4515T>C) | |
| 2 | g.21006218A>T | CA345985773 | APOB | c.10650T>A (p.Phe3550Leu) c.5869+4515T>A (n.5869+4515T>A) | |
| 2 | g.21006219A= | CA2493474681 | APOB | c.10649T= (p.Phe3550=) c.5869+4514T= (n.5869+4514T=) | |
| 2 | g.21006219A>C | CA345985775 | APOB | c.10649T>G (p.Phe3550Cys) c.5869+4514T>G (n.5869+4514T>G) | |
| 2 | g.21006219A>G | CA345985777 | APOB | c.10649T>C (p.Phe3550Ser) c.5869+4514T>C (n.5869+4514T>C) | |
| 2 | g.21006219A>T | CA345985778 | APOB | c.10649T>A (p.Phe3550Tyr) c.5869+4514T>A (n.5869+4514T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006220A>C | CA345985780 | APOB | c.10648T>G (p.Phe3550Val) c.5869+4513T>G (n.5869+4513T>G) | |
| 2 | g.21006220A>G | CA345985782 | APOB | c.10648T>C (p.Phe3550Leu) c.5869+4513T>C (n.5869+4513T>C) | |
| 2 | g.21006220A>T | CA345985783 | APOB | c.10648T>A (p.Phe3550Ile) c.5869+4513T>A (n.5869+4513T>A) | |
| 2 | g.21006221A>C | CA345985788 | APOB | c.10647T>G (p.Asn3549Lys) c.5869+4512T>G (n.5869+4512T>G) | |
| 2 | g.21006221A>G | CA425343300 | APOB | c.10647T>C (p.Asn3549=) c.5869+4512T>C (n.5869+4512T>C) | |
| 2 | g.21006221A>T | CA345985786 | APOB | c.10647T>A (p.Asn3549Lys) c.5869+4512T>A (n.5869+4512T>A) | |
| 2 | g.21006222T>A | CA345985791 | APOB | c.10646A>T (p.Asn3549Ile) c.5869+4511A>T (n.5869+4511A>T) | |
| 2 | g.21006222T>C | CA345985793 | APOB | c.10646A>G (p.Asn3549Ser) c.5869+4511A>G (n.5869+4511A>G) | dbSNP |
| 2 | g.21006222T>G | CA345985795 | APOB | c.10646A>C (p.Asn3549Thr) c.5869+4511A>C (n.5869+4511A>C) | |
| 2 | g.21006222T= | CA2493474682 | APOB | c.10646A= (p.Asn3549=) c.5869+4511A= (n.5869+4511A=) | |
| 2 | g.21006223T>A | CA345985797 | APOB | c.10645A>T (p.Asn3549Tyr) c.5869+4510A>T (n.5869+4510A>T) | |
| 2 | g.21006223T>C | CA345985798 | APOB | c.10645A>G (p.Asn3549Asp) c.5869+4510A>G (n.5869+4510A>G) | COSMIC |
| 2 | g.21006223T>G | CA345985799 | APOB | c.10645A>C (p.Asn3549His) c.5869+4510A>C (n.5869+4510A>C) | COSMIC |
| 2 | g.21006224T>A | CA345985800 | APOB | c.10644A>T (p.Glu3548Asp) c.5869+4509A>T (n.5869+4509A>T) | |
| 2 | g.21006224T>C | CA425343305 | APOB | c.10644A>G (p.Glu3548=) c.5869+4509A>G (n.5869+4509A>G) | |
| 2 | g.21006224T>G | CA345985801 | APOB | c.10644A>C (p.Glu3548Asp) c.5869+4509A>C (n.5869+4509A>C) | |
| 2 | g.21006225T>A | CA345985802 | APOB | c.10643A>T (p.Glu3548Val) c.5869+4508A>T (n.5869+4508A>T) | |
| 2 | g.21006225T>C | CA345985803 | APOB | c.10643A>G (p.Glu3548Gly) c.5869+4508A>G (n.5869+4508A>G) | gnomAD v4 COSMIC |
| 2 | g.21006225T>G | CA345985804 | APOB | c.10643A>C (p.Glu3548Ala) c.5869+4508A>C (n.5869+4508A>C) | |
| 2 | g.21006226C>A | CA345985805 | APOB | c.10642G>T (p.Glu3548Ter) c.5869+4507G>T (n.5869+4507G>T) | |
| 2 | g.21006226C= | CA2493474683 | APOB | c.10642G= (p.Glu3548=) c.5869+4507G= (n.5869+4507G=) | |
| 2 | g.21006226C>G | CA345985806 | APOB | c.10642G>C (p.Glu3548Gln) c.5869+4507G>C (n.5869+4507G>C) | |
| 2 | g.21006226C>T | CA044215 | APOB | c.10642G>A (p.Glu3548Lys) c.5869+4507G>A (n.5869+4507G>A) | dbSNP ExAC gnomAD v4 COSMIC |
| 2 | g.21006227T>A | CA345985807 | APOB | c.10641A>T (p.Lys3547Asn) c.5869+4506A>T (n.5869+4506A>T) | |
| 2 | g.21006227T>C | CA425343312 | APOB | c.10641A>G (p.Lys3547=) c.5869+4506A>G (n.5869+4506A>G) | |
| 2 | g.21006227T>G | CA345985808 | APOB | c.10641A>C (p.Lys3547Asn) c.5869+4506A>C (n.5869+4506A>C) | |
| 2 | g.21006228T>A | CA345985809 | APOB | c.10640A>T (p.Lys3547Ile) c.5869+4505A>T (n.5869+4505A>T) | |
| 2 | g.21006228T>C | CA345985810 | APOB | c.10640A>G (p.Lys3547Arg) c.5869+4505A>G (n.5869+4505A>G) | |
| 2 | g.21006228T>G | CA345985811 | APOB | c.10640A>C (p.Lys3547Thr) c.5869+4505A>C (n.5869+4505A>C) | |
| 2 | g.21006229T>A | CA345985812 | APOB | c.10639A>T (p.Lys3547Ter) c.5869+4504A>T (n.5869+4504A>T) | |
| 2 | g.21006229T>C | CA345985813 | APOB | c.10639A>G (p.Lys3547Glu) c.5869+4504A>G (n.5869+4504A>G) | |
| 2 | g.21006229T>G | CA345985814 | APOB | c.10639A>C (p.Lys3547Gln) c.5869+4504A>C (n.5869+4504A>C) | |
| 2 | g.21006230T>A | CA425343318 | APOB | c.10638A>T (p.Val3546=) c.5869+4503A>T (n.5869+4503A>T) | |
| 2 | g.21006230T>C | CA425343319 | APOB | c.10638A>G (p.Val3546=) c.5869+4503A>G (n.5869+4503A>G) | |
| 2 | g.21006230T>G | CA425343320 | APOB | c.10638A>C (p.Val3546=) c.5869+4503A>C (n.5869+4503A>C) | |
| 2 | g.21006231A>C | CA345985815 | APOB | c.10637T>G (p.Val3546Gly) c.5869+4502T>G (n.5869+4502T>G) | |
| 2 | g.21006231A>G | CA345985816 | APOB | c.10637T>C (p.Val3546Ala) c.5869+4502T>C (n.5869+4502T>C) | |
| 2 | g.21006231A>T | CA345985817 | APOB | c.10637T>A (p.Val3546Glu) c.5869+4502T>A (n.5869+4502T>A) | |
| 2 | g.21006232C>A | CA345985819 | APOB | c.10636G>T (p.Val3546Leu) c.5869+4501G>T (n.5869+4501G>T) | |
| 2 | g.21006232C= | CA2493474684 | APOB | c.10636G= (p.Val3546=) c.5869+4501G= (n.5869+4501G=) | |
| 2 | g.21006232C>G | CA345985820 | APOB | c.10636G>C (p.Val3546Leu) c.5869+4501G>C (n.5869+4501G>C) | |
| 2 | g.21006232C>T | CA345985818 | APOB | c.10636G>A (p.Val3546Ile) c.5869+4501G>A (n.5869+4501G>A) | dbSNP |
| 2 | g.21006233T>A | CA43495292 | APOB | c.10635A>T (p.Glu3545Asp) c.5869+4500A>T (n.5869+4500A>T) | dbSNP |
| 2 | g.21006233T>C | CA425343330 | APOB | c.10635A>G (p.Glu3545=) c.5869+4500A>G (n.5869+4500A>G) | dbSNP gnomAD v4 |
| 2 | g.21006233T>G | CA43495303 | APOB | c.10635A>C (p.Glu3545Asp) c.5869+4500A>C (n.5869+4500A>C) | dbSNP |
| 2 | g.21006233T= | CA2493474685 | APOB | c.10635A= (p.Glu3545=) c.5869+4500A= (n.5869+4500A=) | |
| 2 | g.21006234T>A | CA345985821 | APOB | c.10634A>T (p.Glu3545Val) c.5869+4499A>T (n.5869+4499A>T) | |
| 2 | g.21006234T>C | CA345985822 | APOB | c.10634A>G (p.Glu3545Gly) c.5869+4499A>G (n.5869+4499A>G) | gnomAD v4 |
| 2 | g.21006234T>G | CA345985823 | APOB | c.10634A>C (p.Glu3545Ala) c.5869+4499A>C (n.5869+4499A>C) | dbSNP |
| 2 | g.21006234T= | CA2493474686 | APOB | c.10634A= (p.Glu3545=) c.5869+4499A= (n.5869+4499A=) | |
| 2 | g.21006235C>A | CA345985825 | APOB | c.10633G>T (p.Glu3545Ter) c.5869+4498G>T (n.5869+4498G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006235C= | CA2493474687 | APOB | c.10633G= (p.Glu3545=) c.5869+4498G= (n.5869+4498G=) | |
| 2 | g.21006235C>G | CA345985824 | APOB | c.10633G>C (p.Glu3545Gln) c.5869+4498G>C (n.5869+4498G>C) | |
| 2 | g.21006235C>T | CA044204 | APOB | c.10633G>A (p.Glu3545Lys) c.5869+4498G>A (n.5869+4498G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.21006236A= | CA2493474688 | APOB | c.10632T= (p.Leu3544=) c.5869+4497T= (n.5869+4497T=) | |
| 2 | g.21006236A>C | CA43495324 | APOB | c.10632T>G (p.Leu3544=) c.5869+4497T>G (n.5869+4497T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006236A>G | CA425343333 | APOB | c.10632T>C (p.Leu3544=) c.5869+4497T>C (n.5869+4497T>C) | |
| 2 | g.21006236A>T | CA425343334 | APOB | c.10632T>A (p.Leu3544=) c.5869+4497T>A (n.5869+4497T>A) | |
| 2 | g.21006237A= | CA2493474690 | APOB | c.10631T= (p.Leu3544=) c.5869+4496T= (n.5869+4496T=) | |
| 2 | g.21006237A>C | CA345985826 | APOB | c.10631T>G (p.Leu3544Arg) c.5869+4496T>G (n.5869+4496T>G) | |
| 2 | g.21006237A>G | CA345985827 | APOB | c.10631T>C (p.Leu3544Pro) c.5869+4496T>C (n.5869+4496T>C) | dbSNP gnomAD v4 |
| 2 | g.21006237A>T | CA345985828 | APOB | c.10631T>A (p.Leu3544His) c.5869+4496T>A (n.5869+4496T>A) | |
| 2 | g.21006237_21006238delinsAG | CA2493474689 | APOB | c.10630_10631delinsCT (p.Leu3544=) c.5869+4495_5869+4496delinsCT (n.5869+4495_5869+4496delinsCT) | |
| 2 | g.21006238G>A | CA345985829 | APOB | c.10630C>T (p.Leu3544Phe) c.5869+4495C>T (n.5869+4495C>T) | |
| 2 | g.21006238G>C | CA345985830 | APOB | c.10630C>G (p.Leu3544Val) c.5869+4495C>G (n.5869+4495C>G) | |
| 2 | g.21006238G>T | CA345985831 | APOB | c.10630C>A (p.Leu3544Ile) c.5869+4495C>A (n.5869+4495C>A) | |
| 2 | g.21006239del | CA531312721 | APOB | c.10630del (p.Glu3545LysfsTer2) c.5869+4495del (n.5869+4495del) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006239G>A | CA425343340 | APOB | c.10629C>T (p.Asn3543=) c.5869+4494C>T (n.5869+4494C>T) | dbSNP |
| 2 | g.21006239G>C | CA345985832 | APOB | c.10629C>G (p.Asn3543Lys) c.5869+4494C>G (n.5869+4494C>G) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21006239G= | CA2493474691 | APOB | c.10629C= (p.Asn3543=) c.5869+4494C= (n.5869+4494C=) | |
| 2 | g.21006239G>T | CA345985833 | APOB | c.10629C>A (p.Asn3543Lys) c.5869+4494C>A (n.5869+4494C>A) | dbSNP gnomAD v4 |
| 2 | g.21006240T>A | CA345985836 | APOB | c.10628A>T (p.Asn3543Ile) c.5869+4493A>T (n.5869+4493A>T) | |
| 2 | g.21006240T>C | CA345985840 | APOB | c.10628A>G (p.Asn3543Ser) c.5869+4493A>G (n.5869+4493A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006240T>G | CA345985838 | APOB | c.10628A>C (p.Asn3543Thr) c.5869+4493A>C (n.5869+4493A>C) | |
| 2 | g.21006240T= | CA2493474692 | APOB | c.10628A= (p.Asn3543=) c.5869+4493A= (n.5869+4493A=) | |
| 2 | g.21006241T>A | CA345985843 | APOB | c.10627A>T (p.Asn3543Tyr) c.5869+4492A>T (n.5869+4492A>T) | COSMIC |
| 2 | g.21006241T>C | CA345985845 | APOB | c.10627A>G (p.Asn3543Asp) c.5869+4492A>G (n.5869+4492A>G) | |
| 2 | g.21006241T>G | CA345985847 | APOB | c.10627A>C (p.Asn3543His) c.5869+4492A>C (n.5869+4492A>C) | |
| 2 | g.21006242C>A | CA345985850 | APOB | c.10626G>T (p.Trp3542Cys) c.5869+4491G>T (n.5869+4491G>T) | COSMIC |
| 2 | g.21006242C>G | CA345985853 | APOB | c.10626G>C (p.Trp3542Cys) c.5869+4491G>C (n.5869+4491G>C) | |
| 2 | g.21006242C>T | CA345985855 | APOB | c.10626G>A (p.Trp3542Ter) c.5869+4491G>A (n.5869+4491G>A) | gnomAD v4 |
| 2 | g.21006243C>A | CA345985857 | APOB | c.10625G>T (p.Trp3542Leu) c.5869+4490G>T (n.5869+4490G>T) | |
| 2 | g.21006243C>G | CA345985858 | APOB | c.10625G>C (p.Trp3542Ser) c.5869+4490G>C (n.5869+4490G>C) | |
| 2 | g.21006243C>T | CA345985859 | APOB | c.10625G>A (p.Trp3542Ter) c.5869+4490G>A (n.5869+4490G>A) | |
| 2 | g.21006244A= | CA2493474693 | APOB | c.10624T= (p.Trp3542=) c.5869+4489T= (n.5869+4489T=) | |
| 2 | g.21006244A>C | CA345985862 | APOB | c.10624T>G (p.Trp3542Gly) c.5869+4489T>G (n.5869+4489T>G) | |
| 2 | g.21006244A>G | CA345985864 | APOB | c.10624T>C (p.Trp3542Arg) c.5869+4489T>C (n.5869+4489T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006244A>T | CA345985867 | APOB | c.10624T>A (p.Trp3542Arg) c.5869+4489T>A (n.5869+4489T>A) | |
| 2 | g.21006245G>A | CA425343356 | APOB | c.10623C>T (p.Ile3541=) c.5869+4488C>T (n.5869+4488C>T) | |
| 2 | g.21006245G>C | CA345985868 | APOB | c.10623C>G (p.Ile3541Met) c.5869+4488C>G (n.5869+4488C>G) | |
| 2 | g.21006245G>T | CA425343358 | APOB | c.10623C>A (p.Ile3541=) c.5869+4488C>A (n.5869+4488C>A) | |
| 2 | g.21006246A>C | CA345985872 | APOB | c.10622T>G (p.Ile3541Ser) c.5869+4487T>G (n.5869+4487T>G) | |
| 2 | g.21006246A>G | CA345985877 | APOB | c.10622T>C (p.Ile3541Thr) c.5869+4487T>C (n.5869+4487T>C) | gnomAD v4 |
| 2 | g.21006246A>T | CA345985875 | APOB | c.10622T>A (p.Ile3541Asn) c.5869+4487T>A (n.5869+4487T>A) | |
| 2 | g.21006247T>A | CA345985880 | APOB | c.10621A>T (p.Ile3541Phe) c.5869+4486A>T (n.5869+4486A>T) | |
| 2 | g.21006247T>C | CA43495336 | APOB | c.10621A>G (p.Ile3541Val) c.5869+4486A>G (n.5869+4486A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006247T>G | CA43495345 | APOB | c.10621A>C (p.Ile3541Leu) c.5869+4486A>C (n.5869+4486A>C) | dbSNP |
| 2 | g.21006247T= | CA2493474694 | APOB | c.10621A= (p.Ile3541=) c.5869+4486A= (n.5869+4486A=) | |
| 2 | g.21006248A>C | CA345985887 | APOB | c.10620T>G (p.Asp3540Glu) c.5869+4485T>G (n.5869+4485T>G) | |
| 2 | g.21006248A>G | CA425343362 | APOB | c.10620T>C (p.Asp3540=) c.5869+4485T>C (n.5869+4485T>C) | |
| 2 | g.21006248A>T | CA345985889 | APOB | c.10620T>A (p.Asp3540Glu) c.5869+4485T>A (n.5869+4485T>A) | |
| 2 | g.21006252_21006254del | CA645523819 | APOB | c.10618_10620del (p.Asp3540del) c.5869+4483_5869+4485del (n.5869+4483_5869+4485del) | COSMIC |
| 2 | g.21006249T>A | CA345985892 | APOB | c.10619A>T (p.Asp3540Val) c.5869+4484A>T (n.5869+4484A>T) | |
| 2 | g.21006249T>C | CA345985894 | APOB | c.10619A>G (p.Asp3540Gly) c.5869+4484A>G (n.5869+4484A>G) | ClinVar dbSNP |
| 2 | g.21006249T>G | CA345985896 | APOB | c.10619A>C (p.Asp3540Ala) c.5869+4484A>C (n.5869+4484A>C) | ClinVar |
| 2 | g.21006250C>A | CA345985900 | APOB | c.10618G>T (p.Asp3540Tyr) c.5869+4483G>T (n.5869+4483G>T) | |
| 2 | g.21006250C>G | CA345985902 | APOB | c.10618G>C (p.Asp3540His) c.5869+4483G>C (n.5869+4483G>C) | |
| 2 | g.21006250C>T | CA345985904 | APOB | c.10618G>A (p.Asp3540Asn) c.5869+4483G>A (n.5869+4483G>A) | gnomAD v4 |
| 2 | g.21006251A>C | CA345985907 | APOB | c.10617T>G (p.Asp3539Glu) c.5869+4482T>G (n.5869+4482T>G) | |
| 2 | g.21006251A>G | CA425343367 | APOB | c.10617T>C (p.Asp3539=) c.5869+4482T>C (n.5869+4482T>C) | |
| 2 | g.21006251A>T | CA345985909 | APOB | c.10617T>A (p.Asp3539Glu) c.5869+4482T>A (n.5869+4482T>A) | |
| 2 | g.21006252T>A | CA345985912 | APOB | c.10616A>T (p.Asp3539Val) c.5869+4481A>T (n.5869+4481A>T) | |
| 2 | g.21006252T>C | CA345985914 | APOB | c.10616A>G (p.Asp3539Gly) c.5869+4481A>G (n.5869+4481A>G) | |
| 2 | g.21006252T>G | CA345985916 | APOB | c.10616A>C (p.Asp3539Ala) c.5869+4481A>C (n.5869+4481A>C) | |
| 2 | g.21006253C>A | CA345985919 | APOB | c.10615G>T (p.Asp3539Tyr) c.5869+4480G>T (n.5869+4480G>T) | |
| 2 | g.21006253C>G | CA345985921 | APOB | c.10615G>C (p.Asp3539His) c.5869+4480G>C (n.5869+4480G>C) | |
| 2 | g.21006253C>T | CA345985923 | APOB | c.10615G>A (p.Asp3539Asn) c.5869+4480G>A (n.5869+4480G>A) | COSMIC |
| 2 | g.21006254A= | CA2493474695 | APOB | c.10614T= (p.Ile3538=) c.5869+4479T= (n.5869+4479T=) | |
| 2 | g.21006254A>C | CA345985925 | APOB | c.10614T>G (p.Ile3538Met) c.5869+4479T>G (n.5869+4479T>G) | |
| 2 | g.21006254A>G | CA425343373 | APOB | c.10614T>C (p.Ile3538=) c.5869+4479T>C (n.5869+4479T>C) | |
| 2 | g.21006254A>T | CA425343375 | APOB | c.10614T>A (p.Ile3538=) c.5869+4479T>A (n.5869+4479T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006255A>C | CA345985928 | APOB | c.10613T>G (p.Ile3538Ser) c.5869+4478T>G (n.5869+4478T>G) | |
| 2 | g.21006255A>G | CA345985930 | APOB | c.10613T>C (p.Ile3538Thr) c.5869+4478T>C (n.5869+4478T>C) | |
| 2 | g.21006255A>T | CA345985932 | APOB | c.10613T>A (p.Ile3538Asn) c.5869+4478T>A (n.5869+4478T>A) | |
| 2 | g.21006256T>A | CA345985935 | APOB | c.10612A>T (p.Ile3538Phe) c.5869+4477A>T (n.5869+4477A>T) | |
| 2 | g.21006256T>C | CA345985937 | APOB | c.10612A>G (p.Ile3538Val) c.5869+4477A>G (n.5869+4477A>G) | |
| 2 | g.21006256T>G | CA345985939 | APOB | c.10612A>C (p.Ile3538Leu) c.5869+4477A>C (n.5869+4477A>C) | |
| 2 | g.21006257T>A | CA345985944 | APOB | c.10611A>T (p.Lys3537Asn) c.5869+4476A>T (n.5869+4476A>T) | |
| 2 | g.21006257T>C | CA425343379 | APOB | c.10611A>G (p.Lys3537=) c.5869+4476A>G (n.5869+4476A>G) | |
| 2 | g.21006257T>G | CA345985942 | APOB | c.10611A>C (p.Lys3537Asn) c.5869+4476A>C (n.5869+4476A>C) | |
| 2 | g.21006258T>A | CA345985947 | APOB | c.10610A>T (p.Lys3537Ile) c.5869+4475A>T (n.5869+4475A>T) | |
| 2 | g.21006258T>C | CA345985949 | APOB | c.10610A>G (p.Lys3537Arg) c.5869+4475A>G (n.5869+4475A>G) | |
| 2 | g.21006258T>G | CA345985952 | APOB | c.10610A>C (p.Lys3537Thr) c.5869+4475A>C (n.5869+4475A>C) | |
| 2 | g.21006259T>A | CA345985954 | APOB | c.10609A>T (p.Lys3537Ter) c.5869+4474A>T (n.5869+4474A>T) | |
| 2 | g.21006259T>C | CA345985956 | APOB | c.10609A>G (p.Lys3537Glu) c.5869+4474A>G (n.5869+4474A>G) | |
| 2 | g.21006259T>G | CA345985958 | APOB | c.10609A>C (p.Lys3537Gln) c.5869+4474A>C (n.5869+4474A>C) | |
| 2 | g.21006260G>A | CA425343388 | APOB | c.10608C>T (p.Ser3536=) c.5869+4473C>T (n.5869+4473C>T) | |
| 2 | g.21006260G>C | CA425343389 | APOB | c.10608C>G (p.Ser3536=) c.5869+4473C>G (n.5869+4473C>G) | |
| 2 | g.21006260G>T | CA425343393 | APOB | c.10608C>A (p.Ser3536=) c.5869+4473C>A (n.5869+4473C>A) | |
| 2 | g.21006261G>A | CA345985962 | APOB | c.10607C>T (p.Ser3536Phe) c.5869+4472C>T (n.5869+4472C>T) | |
| 2 | g.21006261G>C | CA345985964 | APOB | c.10607C>G (p.Ser3536Cys) c.5869+4472C>G (n.5869+4472C>G) | gnomAD v4 |
| 2 | g.21006261G>T | CA345985966 | APOB | c.10607C>A (p.Ser3536Tyr) c.5869+4472C>A (n.5869+4472C>A) | |
| 2 | g.21006262A>C | CA345985969 | APOB | c.10606T>G (p.Ser3536Ala) c.5869+4471T>G (n.5869+4471T>G) | |
| 2 | g.21006262A>G | CA345985971 | APOB | c.10606T>C (p.Ser3536Pro) c.5869+4471T>C (n.5869+4471T>C) | |
| 2 | g.21006262A>T | CA345985973 | APOB | c.10606T>A (p.Ser3536Thr) c.5869+4471T>A (n.5869+4471T>A) | |
| 2 | g.21006263A>C | CA425343403 | APOB | c.10605T>G (p.Thr3535=) c.5869+4470T>G (n.5869+4470T>G) | |
| 2 | g.21006263A>G | CA425343401 | APOB | c.10605T>C (p.Thr3535=) c.5869+4470T>C (n.5869+4470T>C) | |
| 2 | g.21006263A>T | CA425343399 | APOB | c.10605T>A (p.Thr3535=) c.5869+4470T>A (n.5869+4470T>A) | |
| 2 | g.21006264G>A | CA345985980 | APOB | c.10604C>T (p.Thr3535Ile) c.5869+4469C>T (n.5869+4469C>T) | gnomAD v4 COSMIC |
| 2 | g.21006264G>C | CA345985978 | APOB | c.10604C>G (p.Thr3535Ser) c.5869+4469C>G (n.5869+4469C>G) | |
| 2 | g.21006264G>T | CA345985976 | APOB | c.10604C>A (p.Thr3535Asn) c.5869+4469C>A (n.5869+4469C>A) | gnomAD v4 |
| 2 | g.21006265_21006266del | CA2503870310 | APOB | c.10603_10604del (p.Thr3535PhefsTer4) c.5869+4468_5869+4469del (n.5869+4468_5869+4469del) | |
| 2 | g.21006265T>A | CA345985983 | APOB | c.10603A>T (p.Thr3535Ser) c.5869+4468A>T (n.5869+4468A>T) | |
| 2 | g.21006265T>C | CA345985988 | APOB | c.10603A>G (p.Thr3535Ala) c.5869+4468A>G (n.5869+4468A>G) | gnomAD v4 |
| 2 | g.21006265T>G | CA345985985 | APOB | c.10603A>C (p.Thr3535Pro) c.5869+4468A>C (n.5869+4468A>C) | |
| 2 | g.21006266G>A | CA425343406 | APOB | c.10602C>T (p.Gly3534=) c.5869+4467C>T (n.5869+4467C>T) | |
| 2 | g.21006266G>C | CA425343407 | APOB | c.10602C>G (p.Gly3534=) c.5869+4467C>G (n.5869+4467C>G) | |
| 2 | g.21006266G= | CA2493474696 | APOB | c.10602C= (p.Gly3534=) c.5869+4467C= (n.5869+4467C=) | |
| 2 | g.21006266G>T | CA10588885 | APOB | c.10602C>A (p.Gly3534=) c.5869+4467C>A (n.5869+4467C>A) | ClinVar dbSNP |
| 2 | g.21006267C>A | CA345985993 | APOB | c.10601G>T (p.Gly3534Val) c.5869+4466G>T (n.5869+4466G>T) | |
| 2 | g.21006267C>G | CA345985995 | APOB | c.10601G>C (p.Gly3534Ala) c.5869+4466G>C (n.5869+4466G>C) | |
| 2 | g.21006267C>T | CA345985997 | APOB | c.10601G>A (p.Gly3534Asp) c.5869+4466G>A (n.5869+4466G>A) | |
| 2 | g.21006268C>A | CA345986000 | APOB | c.10600G>T (p.Gly3534Cys) c.5869+4465G>T (n.5869+4465G>T) | |
| 2 | g.21006268C= | CA2493474697 | APOB | c.10600G= (p.Gly3534=) c.5869+4465G= (n.5869+4465G=) | |
| 2 | g.21006268C>G | CA345986001 | APOB | c.10600G>C (p.Gly3534Arg) c.5869+4465G>C (n.5869+4465G>C) | |
| 2 | g.21006268C>T | CA044181 | APOB | c.10600G>A (p.Gly3534Ser) c.5869+4465G>A (n.5869+4465G>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 2 | g.21006269C>A | CA345986005 | APOB | c.10599G>T (p.Gln3533His) c.5869+4464G>T (n.5869+4464G>T) | |
| 2 | g.21006269C= | CA2493474698 | APOB | c.10599G= (p.Gln3533=) c.5869+4464G= (n.5869+4464G=) | |
| 2 | g.21006269C>G | CA345986008 | APOB | c.10599G>C (p.Gln3533His) c.5869+4464G>C (n.5869+4464G>C) | |
| 2 | g.21006269C>T | CA43495392 | APOB | c.10599G>A (p.Gln3533=) c.5869+4464G>A (n.5869+4464G>A) | dbSNP |
| 2 | g.21006269_21006270insCT | CA2515297525 | APOB | c.10598_10599insAG (p.Thr3535AlafsTer13) c.5869+4463_5869+4464insAG (n.5869+4463_5869+4464insAG) | |
| 2 | g.21006270T>A | CA345986012 | APOB | c.10598A>T (p.Gln3533Leu) c.5869+4463A>T (n.5869+4463A>T) | |
| 2 | g.21006270T>C | CA345986014 | APOB | c.10598A>G (p.Gln3533Arg) c.5869+4463A>G (n.5869+4463A>G) | |
| 2 | g.21006270T>G | CA345986016 | APOB | c.10598A>C (p.Gln3533Pro) c.5869+4463A>C (n.5869+4463A>C) | |
| 2 | g.21006271G>A | CA345986023 | APOB | c.10597C>T (p.Gln3533Ter) c.5869+4462C>T (n.5869+4462C>T) | |
| 2 | g.21006271G>C | CA345986021 | APOB | c.10597C>G (p.Gln3533Glu) c.5869+4462C>G (n.5869+4462C>G) | |
| 2 | g.21006271G>T | CA345986019 | APOB | c.10597C>A (p.Gln3533Lys) c.5869+4462C>A (n.5869+4462C>A) | |
| 2 | g.21006272C>A | CA425343416 | APOB | c.10596G>T (p.Leu3532=) c.5869+4461G>T (n.5869+4461G>T) | gnomAD v4 |
| 2 | g.21006272C>G | CA425343417 | APOB | c.10596G>C (p.Leu3532=) c.5869+4461G>C (n.5869+4461G>C) | |
| 2 | g.21006272C>T | CA425343418 | APOB | c.10596G>A (p.Leu3532=) c.5869+4461G>A (n.5869+4461G>A) | |
| 2 | g.21006273A>C | CA345986026 | APOB | c.10595T>G (p.Leu3532Arg) c.5869+4460T>G (n.5869+4460T>G) | |
| 2 | g.21006273A>G | CA345986028 | APOB | c.10595T>C (p.Leu3532Pro) c.5869+4460T>C (n.5869+4460T>C) | |
| 2 | g.21006273A>T | CA345986030 | APOB | c.10595T>A (p.Leu3532Gln) c.5869+4460T>A (n.5869+4460T>A) | |
| 2 | g.21006274G>A | CA425343422 | APOB | c.10594C>T (p.Leu3532=) c.5869+4459C>T (n.5869+4459C>T) | |
| 2 | g.21006274G>C | CA345986033 | APOB | c.10594C>G (p.Leu3532Val) c.5869+4459C>G (n.5869+4459C>G) | |
| 2 | g.21006274G>T | CA345986035 | APOB | c.10594C>A (p.Leu3532Met) c.5869+4459C>A (n.5869+4459C>A) | |
| 2 | g.21006275C>A | CA345986037 | APOB | c.10593G>T (p.Lys3531Asn) c.5869+4458G>T (n.5869+4458G>T) | |
| 2 | g.21006275C>G | CA345986039 | APOB | c.10593G>C (p.Lys3531Asn) c.5869+4458G>C (n.5869+4458G>C) | |
| 2 | g.21006275C>T | CA425343424 | APOB | c.10593G>A (p.Lys3531=) c.5869+4458G>A (n.5869+4458G>A) | gnomAD v4 |
| 2 | g.21006276T>A | CA345986040 | APOB | c.10592A>T (p.Lys3531Met) c.5869+4457A>T (n.5869+4457A>T) | |
| 2 | g.21006276T>C | CA345986041 | APOB | c.10592A>G (p.Lys3531Arg) c.5869+4457A>G (n.5869+4457A>G) | |
| 2 | g.21006276T>G | CA345986043 | APOB | c.10592A>C (p.Lys3531Thr) c.5869+4457A>C (n.5869+4457A>C) | |
| 2 | g.21006277T>A | CA345986046 | APOB | c.10591A>T (p.Lys3531Ter) c.5869+4456A>T (n.5869+4456A>T) | |
| 2 | g.21006277T>C | CA345986047 | APOB | c.10591A>G (p.Lys3531Glu) c.5869+4456A>G (n.5869+4456A>G) | |
| 2 | g.21006277T>G | CA345986048 | APOB | c.10591A>C (p.Lys3531Gln) c.5869+4456A>C (n.5869+4456A>C) | |
| 2 | g.21006278C>A | CA425343427 | APOB | c.10590G>T (p.Val3530=) c.5869+4455G>T (n.5869+4455G>T) | |
| 2 | g.21006278C>G | CA425343428 | APOB | c.10590G>C (p.Val3530=) c.5869+4455G>C (n.5869+4455G>C) | |
| 2 | g.21006278C>T | CA425343429 | APOB | c.10590G>A (p.Val3530=) c.5869+4455G>A (n.5869+4455G>A) | |
| 2 | g.21006279A>C | CA345986054 | APOB | c.10589T>G (p.Val3530Gly) c.5869+4454T>G (n.5869+4454T>G) | |
| 2 | g.21006279A>G | CA345986056 | APOB | c.10589T>C (p.Val3530Ala) c.5869+4454T>C (n.5869+4454T>C) | gnomAD v4 |
| 2 | g.21006279A>T | CA345986051 | APOB | c.10589T>A (p.Val3530Glu) c.5869+4454T>A (n.5869+4454T>A) | |
| 2 | g.21006280C>A | CA345986058 | APOB | c.10588G>T (p.Val3530Leu) c.5869+4453G>T (n.5869+4453G>T) | |
| 2 | g.21006280C= | CA2493474699 | APOB | c.10588G= (p.Val3530=) c.5869+4453G= (n.5869+4453G=) | |
| 2 | g.21006280C>G | CA345986061 | APOB | c.10588G>C (p.Val3530Leu) c.5869+4453G>C (n.5869+4453G>C) | |
| 2 | g.21006280C>T | CA044171 | APOB | c.10588G>A (p.Val3530Met) c.5869+4453G>A (n.5869+4453G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006281T>A | CA425343433 | APOB | c.10587A>T (p.Ser3529=) c.5869+4452A>T (n.5869+4452A>T) | gnomAD v4 |
| 2 | g.21006281T>C | CA425343434 | APOB | c.10587A>G (p.Ser3529=) c.5869+4452A>G (n.5869+4452A>G) | gnomAD v4 |
| 2 | g.21006281T>G | CA425343435 | APOB | c.10587A>C (p.Ser3529=) c.5869+4452A>C (n.5869+4452A>C) | |
| 2 | g.21006282G>A | CA345986065 | APOB | c.10586C>T (p.Ser3529Leu) c.5869+4451C>T (n.5869+4451C>T) | gnomAD v4 COSMIC |
| 2 | g.21006282G>C | CA345986067 | APOB | c.10586C>G (p.Ser3529Ter) c.5869+4451C>G (n.5869+4451C>G) | |
| 2 | g.21006282G>T | CA345986069 | APOB | c.10586C>A (p.Ser3529Ter) c.5869+4451C>A (n.5869+4451C>A) | ClinVar |
| 2 | g.21006283A>C | CA345986071 | APOB | c.10585T>G (p.Ser3529Ala) c.5869+4450T>G (n.5869+4450T>G) | ClinVar |
| 2 | g.21006283A>G | CA345986073 | APOB | c.10585T>C (p.Ser3529Pro) c.5869+4450T>C (n.5869+4450T>C) | |
| 2 | g.21006283A>T | CA345986075 | APOB | c.10585T>A (p.Ser3529Thr) c.5869+4450T>A (n.5869+4450T>A) | |
| 2 | g.21006284A>C | CA425343441 | APOB | c.10584T>G (p.Ser3528=) c.5869+4449T>G (n.5869+4449T>G) | |
| 2 | g.21006284A>G | CA425343439 | APOB | c.10584T>C (p.Ser3528=) c.5869+4449T>C (n.5869+4449T>C) | |
| 2 | g.21006284A>T | CA425343437 | APOB | c.10584T>A (p.Ser3528=) c.5869+4449T>A (n.5869+4449T>A) | gnomAD v4 |
| 2 | g.21006285G>A | CA43495421 | APOB | c.10583C>T (p.Ser3528Phe) c.5869+4448C>T (n.5869+4448C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006285G>C | CA345986079 | APOB | c.10583C>G (p.Ser3528Cys) c.5869+4448C>G (n.5869+4448C>G) | |
| 2 | g.21006285G= | CA2493474700 | APOB | c.10583C= (p.Ser3528=) c.5869+4448C= (n.5869+4448C=) | |
| 2 | g.21006285G>T | CA345986081 | APOB | c.10583C>A (p.Ser3528Tyr) c.5869+4448C>A (n.5869+4448C>A) | |
| 2 | g.21006286A= | CA2493474701 | APOB | c.10582T= (p.Ser3528=) c.5869+4447T= (n.5869+4447T=) | |
| 2 | g.21006286A>C | CA345986087 | APOB | c.10582T>G (p.Ser3528Ala) c.5869+4447T>G (n.5869+4447T>G) | |
| 2 | g.21006286A>G | CA345986084 | APOB | c.10582T>C (p.Ser3528Pro) c.5869+4447T>C (n.5869+4447T>C) | ClinVar |
| 2 | g.21006286A>T | CA044148 | APOB | c.10582T>A (p.Ser3528Thr) c.5869+4447T>A (n.5869+4447T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006287C>A | CA425343443 | APOB | c.10581G>T (p.Arg3527=) c.5869+4446G>T (n.5869+4446G>T) | |
| 2 | g.21006287C= | CA2493474702 | APOB | c.10581G= (p.Arg3527=) c.5869+4446G= (n.5869+4446G=) | |
| 2 | g.21006287C>G | CA425343444 | APOB | c.10581G>C (p.Arg3527=) c.5869+4446G>C (n.5869+4446G>C) | ClinVar gnomAD v4 |
| 2 | g.21006287C>T | CA425343445 | APOB | c.10581G>A (p.Arg3527=) c.5869+4446G>A (n.5869+4446G>A) | ClinVar dbSNP |
| 2 | g.21006288C>A | CA345986090 | APOB | c.10580G>T (p.Arg3527Leu) c.5869+4445G>T (n.5869+4445G>T) | ClinVar dbSNP |
| 2 | g.21006288C= | CA2493474703 | APOB | c.10580G= (p.Arg3527=) c.5869+4445G= (n.5869+4445G=) | |
| 2 | g.21006288C>G | CA345986092 | APOB | c.10580G>C (p.Arg3527Pro) c.5869+4445G>C (n.5869+4445G>C) | |
| 2 | g.21006288C>T | CA022750 | APOB | c.10580G>A (p.Arg3527Gln) c.5869+4445G>A (n.5869+4445G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006289G>A | CA044117 | APOB | c.10579C>T (p.Arg3527Trp) c.5869+4444C>T (n.5869+4444C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21006289G>C | CA345986098 | APOB | c.10579C>G (p.Arg3527Gly) c.5869+4444C>G (n.5869+4444C>G) | |
| 2 | g.21006289G= | CA2493474704 | APOB | c.10579C= (p.Arg3527=) c.5869+4444C= (n.5869+4444C=) | |
| 2 | g.21006289G>T | CA425343447 | APOB | c.10579C>A (p.Arg3527=) c.5869+4444C>A (n.5869+4444C>A) | gnomAD v4 |
| 2 | g.21006290T>A | CA425343448 | APOB | c.10578A>T (p.Thr3526=) c.5869+4443A>T (n.5869+4443A>T) | |
| 2 | g.21006290T>C | CA425343451 | APOB | c.10578A>G (p.Thr3526=) c.5869+4443A>G (n.5869+4443A>G) | |
| 2 | g.21006290T>G | CA425343450 | APOB | c.10578A>C (p.Thr3526=) c.5869+4443A>C (n.5869+4443A>C) | |
| 2 | g.21006291del | CA2740092730 | APOB | c.10577del (p.Thr3526AsnfsTer5) c.5869+4442del (n.5869+4442del) | ClinVar |
| 2 | g.21006291G>A | CA345986101 | APOB | c.10577C>T (p.Thr3526Ile) c.5869+4442C>T (n.5869+4442C>T) | |
| 2 | g.21006291G>C | CA345986102 | APOB | c.10577C>G (p.Thr3526Arg) c.5869+4442C>G (n.5869+4442C>G) | |
| 2 | g.21006291G>T | CA345986105 | APOB | c.10577C>A (p.Thr3526Lys) c.5869+4442C>A (n.5869+4442C>A) | |
| 2 | g.21006292T>A | CA345986109 | APOB | c.10576A>T (p.Thr3526Ser) c.5869+4441A>T (n.5869+4441A>T) | COSMIC |
| 2 | g.21006292T>C | CA044105 | APOB | c.10576A>G (p.Thr3526Ala) c.5869+4441A>G (n.5869+4441A>G) | ClinVar dbSNP ExAC gnomAD v4 |
| 2 | g.21006292T>G | CA345986112 | APOB | c.10576A>C (p.Thr3526Pro) c.5869+4441A>C (n.5869+4441A>C) | |
| 2 | g.21006292T= | CA2493474705 | APOB | c.10576A= (p.Thr3526=) c.5869+4441A= (n.5869+4441A=) | |
| 2 | g.21006293G>A | CA044092 | APOB | c.10575C>T (p.Ser3525=) c.5869+4440C>T (n.5869+4440C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006293G>C | CA345986116 | APOB | c.10575C>G (p.Ser3525Arg) c.5869+4440C>G (n.5869+4440C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006293G= | CA2493474706 | APOB | c.10575C= (p.Ser3525=) c.5869+4440C= (n.5869+4440C=) | |
| 2 | g.21006293G>T | CA345986114 | APOB | c.10575C>A (p.Ser3525Arg) c.5869+4440C>A (n.5869+4440C>A) | |
| 2 | g.21006294C>A | CA345986118 | APOB | c.10574G>T (p.Ser3525Ile) c.5869+4439G>T (n.5869+4439G>T) | |
| 2 | g.21006294C= | CA2493474707 | APOB | c.10574G= (p.Ser3525=) c.5869+4439G= (n.5869+4439G=) | |
| 2 | g.21006294C>G | CA345986119 | APOB | c.10574G>C (p.Ser3525Thr) c.5869+4439G>C (n.5869+4439G>C) | |
| 2 | g.21006294C>T | CA345986121 | APOB | c.10574G>A (p.Ser3525Asn) c.5869+4439G>A (n.5869+4439G>A) | dbSNP COSMIC |
| 2 | g.21006295T>A | CA43495444 | APOB | c.10573A>T (p.Ser3525Cys) c.5869+4438A>T (n.5869+4438A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006295T>C | CA345986123 | APOB | c.10573A>G (p.Ser3525Gly) c.5869+4438A>G (n.5869+4438A>G) | |
| 2 | g.21006295T>G | CA345986125 | APOB | c.10573A>C (p.Ser3525Arg) c.5869+4438A>C (n.5869+4438A>C) | |
| 2 | g.21006295T= | CA2493474708 | APOB | c.10573A= (p.Ser3525=) c.5869+4438A= (n.5869+4438A=) | |
| 2 | g.21006296C>A | CA345986129 | APOB | c.10572G>T (p.Lys3524Asn) c.5869+4437G>T (n.5869+4437G>T) | |
| 2 | g.21006296C>G | CA345986127 | APOB | c.10572G>C (p.Lys3524Asn) c.5869+4437G>C (n.5869+4437G>C) | |
| 2 | g.21006296C>T | CA425343454 | APOB | c.10572G>A (p.Lys3524=) c.5869+4437G>A (n.5869+4437G>A) | |
| 2 | g.21006297T>A | CA345986132 | APOB | c.10571A>T (p.Lys3524Met) c.5869+4436A>T (n.5869+4436A>T) | |
| 2 | g.21006297T>C | CA345986134 | APOB | c.10571A>G (p.Lys3524Arg) c.5869+4436A>G (n.5869+4436A>G) | gnomAD v4 |
| 2 | g.21006297T>G | CA044078 | APOB | c.10571A>C (p.Lys3524Thr) c.5869+4436A>C (n.5869+4436A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21006297T= | CA2493474709 | APOB | c.10571A= (p.Lys3524=) c.5869+4436A= (n.5869+4436A=) | |
| 2 | g.21006298T>A | CA345986138 | APOB | c.10570A>T (p.Lys3524Ter) c.5869+4435A>T (n.5869+4435A>T) | |
| 2 | g.21006298T>C | CA345986139 | APOB | c.10570A>G (p.Lys3524Glu) c.5869+4435A>G (n.5869+4435A>G) | dbSNP |
| 2 | g.21006298T>G | CA345986141 | APOB | c.10570A>C (p.Lys3524Gln) c.5869+4435A>C (n.5869+4435A>C) | |
| 2 | g.21006298T= | CA2493474710 | APOB | c.10570A= (p.Lys3524=) c.5869+4435A= (n.5869+4435A=) | |
| 2 | g.21006299G>A | CA425343460 | APOB | c.10569C>T (p.Ser3523=) c.5869+4434C>T (n.5869+4434C>T) | |
| 2 | g.21006299G>C | CA425343461 | APOB | c.10569C>G (p.Ser3523=) c.5869+4434C>G (n.5869+4434C>G) | COSMIC |
| 2 | g.21006299G>T | CA425343462 | APOB | c.10569C>A (p.Ser3523=) c.5869+4434C>A (n.5869+4434C>A) | |
| 2 | g.21006300G>A | CA345986148 | APOB | c.10568C>T (p.Ser3523Phe) c.5869+4433C>T (n.5869+4433C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21006300G>C | CA345986143 | APOB | c.10568C>G (p.Ser3523Cys) c.5869+4433C>G (n.5869+4433C>G) | |
| 2 | g.21006300G= | CA2493474711 | APOB | c.10568C= (p.Ser3523=) c.5869+4433C= (n.5869+4433C=) | |
| 2 | g.21006300G>T | CA345986146 | APOB | c.10568C>A (p.Ser3523Tyr) c.5869+4433C>A (n.5869+4433C>A) | gnomAD v4 |
| 2 | g.21006301A>C | CA345986150 | APOB | c.10567T>G (p.Ser3523Ala) c.5869+4432T>G (n.5869+4432T>G) | |
| 2 | g.21006301A>G | CA345986152 | APOB | c.10567T>C (p.Ser3523Pro) c.5869+4432T>C (n.5869+4432T>C) | |
| 2 | g.21006301A>T | CA345986154 | APOB | c.10567T>A (p.Ser3523Thr) c.5869+4432T>A (n.5869+4432T>A) |