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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.21002662G>A | CA345970543 | APOB | c.12760C>T (p.Pro4254Ser) c.5870-3389C>T (n.5870-3389C>T) | gnomAD v4 COSMIC |
| 2 | g.21002662G>C | CA345970544 | APOB | c.12760C>G (p.Pro4254Ala) c.5870-3389C>G (n.5870-3389C>G) | |
| 2 | g.21002662G>T | CA345970545 | APOB | c.12760C>A (p.Pro4254Thr) c.5870-3389C>A (n.5870-3389C>A) | |
| 2 | g.21002663A>C | CA425342301 | APOB | c.12759T>G (p.Leu4253=) c.5870-3390T>G (n.5870-3390T>G) | |
| 2 | g.21002663A>G | CA425342299 | APOB | c.12759T>C (p.Leu4253=) c.5870-3390T>C (n.5870-3390T>C) | |
| 2 | g.21002663A>T | CA425342300 | APOB | c.12759T>A (p.Leu4253=) c.5870-3390T>A (n.5870-3390T>A) | |
| 2 | g.21002664A= | CA2493473086 | APOB | c.12758T= (p.Leu4253=) c.5870-3391T= (n.5870-3391T=) | |
| 2 | g.21002664A>C | CA345970547 | APOB | c.12758T>G (p.Leu4253Arg) c.5870-3391T>G (n.5870-3391T>G) | |
| 2 | g.21002664A>G | CA051009 | APOB | c.12758T>C (p.Leu4253Pro) c.5870-3391T>C (n.5870-3391T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21002664A>T | CA345970546 | APOB | c.12758T>A (p.Leu4253His) c.5870-3391T>A (n.5870-3391T>A) | |
| 2 | g.21002665G>A | CA345970548 | APOB | c.12757C>T (p.Leu4253Phe) c.5870-3392C>T (n.5870-3392C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002665G>C | CA345970549 | APOB | c.12757C>G (p.Leu4253Val) c.5870-3392C>G (n.5870-3392C>G) | |
| 2 | g.21002665G= | CA2493473087 | APOB | c.12757C= (p.Leu4253=) c.5870-3392C= (n.5870-3392C=) | |
| 2 | g.21002665G>T | CA345970550 | APOB | c.12757C>A (p.Leu4253Ile) c.5870-3392C>A (n.5870-3392C>A) | |
| 2 | g.21002666T>A | CA425342305 | APOB | c.12756A>T (p.Thr4252=) c.5870-3393A>T (n.5870-3393A>T) | |
| 2 | g.21002666T>C | CA425342306 | APOB | c.12756A>G (p.Thr4252=) c.5870-3393A>G (n.5870-3393A>G) | dbSNP gnomAD v4 |
| 2 | g.21002666T>G | CA425342307 | APOB | c.12756A>C (p.Thr4252=) c.5870-3393A>C (n.5870-3393A>C) | |
| 2 | g.21002666T= | CA2493473088 | APOB | c.12756A= (p.Thr4252=) c.5870-3393A= (n.5870-3393A=) | |
| 2 | g.21002667G>A | CA345970551 | APOB | c.12755C>T (p.Thr4252Ile) c.5870-3394C>T (n.5870-3394C>T) | |
| 2 | g.21002667G>C | CA345970552 | APOB | c.12755C>G (p.Thr4252Arg) c.5870-3394C>G (n.5870-3394C>G) | |
| 2 | g.21002667G>T | CA345970553 | APOB | c.12755C>A (p.Thr4252Lys) c.5870-3394C>A (n.5870-3394C>A) | |
| 2 | g.21002668T>A | CA345970554 | APOB | c.12754A>T (p.Thr4252Ser) c.5870-3395A>T (n.5870-3395A>T) | |
| 2 | g.21002668T>C | CA345970555 | APOB | c.12754A>G (p.Thr4252Ala) c.5870-3395A>G (n.5870-3395A>G) | |
| 2 | g.21002668T>G | CA345970556 | APOB | c.12754A>C (p.Thr4252Pro) c.5870-3395A>C (n.5870-3395A>C) | |
| 2 | g.21002669A>C | CA345970557 | APOB | c.12753T>G (p.Ile4251Met) c.5870-3396T>G (n.5870-3396T>G) | |
| 2 | g.21002669A>G | CA425342312 | APOB | c.12753T>C (p.Ile4251=) c.5870-3396T>C (n.5870-3396T>C) | |
| 2 | g.21002669A>T | CA425342313 | APOB | c.12753T>A (p.Ile4251=) c.5870-3396T>A (n.5870-3396T>A) | |
| 2 | g.21002670A>C | CA345970560 | APOB | c.12752T>G (p.Ile4251Ser) c.5870-3397T>G (n.5870-3397T>G) | |
| 2 | g.21002670A>G | CA345970559 | APOB | c.12752T>C (p.Ile4251Thr) c.5870-3397T>C (n.5870-3397T>C) | gnomAD v4 |
| 2 | g.21002670A>T | CA345970558 | APOB | c.12752T>A (p.Ile4251Asn) c.5870-3397T>A (n.5870-3397T>A) | |
| 2 | g.21002671T>A | CA345970561 | APOB | c.12751A>T (p.Ile4251Phe) c.5870-3398A>T (n.5870-3398A>T) | |
| 2 | g.21002671T>C | CA050994 | APOB | c.12751A>G (p.Ile4251Val) c.5870-3398A>G (n.5870-3398A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002671T>G | CA345970562 | APOB | c.12751A>C (p.Ile4251Leu) c.5870-3398A>C (n.5870-3398A>C) | |
| 2 | g.21002671T= | CA2493473089 | APOB | c.12751A= (p.Ile4251=) c.5870-3398A= (n.5870-3398A=) | |
| 2 | g.21002672C>A | CA425342318 | APOB | c.12750G>T (p.Val4250=) c.5870-3399G>T (n.5870-3399G>T) | |
| 2 | g.21002672C>G | CA425342319 | APOB | c.12750G>C (p.Val4250=) c.5870-3399G>C (n.5870-3399G>C) | |
| 2 | g.21002672C>T | CA425342320 | APOB | c.12750G>A (p.Val4250=) c.5870-3399G>A (n.5870-3399G>A) | gnomAD v4 |
| 2 | g.21002673A>C | CA345970563 | APOB | c.12749T>G (p.Val4250Gly) c.5870-3400T>G (n.5870-3400T>G) | |
| 2 | g.21002673A>G | CA345970564 | APOB | c.12749T>C (p.Val4250Ala) c.5870-3400T>C (n.5870-3400T>C) | |
| 2 | g.21002673A>T | CA345970565 | APOB | c.12749T>A (p.Val4250Glu) c.5870-3400T>A (n.5870-3400T>A) | |
| 2 | g.21002674C>A | CA345970566 | APOB | c.12748G>T (p.Val4250Leu) c.5870-3401G>T (n.5870-3401G>T) | |
| 2 | g.21002674C>G | CA345970567 | APOB | c.12748G>C (p.Val4250Leu) c.5870-3401G>C (n.5870-3401G>C) | |
| 2 | g.21002674C>T | CA345970568 | APOB | c.12748G>A (p.Val4250Met) c.5870-3401G>A (n.5870-3401G>A) | |
| 2 | g.21002675T>A | CA425342325 | APOB | c.12747A>T (p.Leu4249=) c.5870-3402A>T (n.5870-3402A>T) | |
| 2 | g.21002675T>C | CA425342326 | APOB | c.12747A>G (p.Leu4249=) c.5870-3402A>G (n.5870-3402A>G) | |
| 2 | g.21002675T>G | CA425342327 | APOB | c.12747A>C (p.Leu4249=) c.5870-3402A>C (n.5870-3402A>C) | |
| 2 | g.21002676del | CA2658054433 | APOB | c.12746del (p.Leu4249GlnfsTer2) c.5870-3403del (n.5870-3403del) | gnomAD v4 |
| 2 | g.21002676A= | CA2493473090 | APOB | c.12746T= (p.Leu4249=) c.5870-3403T= (n.5870-3403T=) | |
| 2 | g.21002676A>C | CA345970569 | APOB | c.12746T>G (p.Leu4249Arg) c.5870-3403T>G (n.5870-3403T>G) | |
| 2 | g.21002676A>G | CA43488642 | APOB | c.12746T>C (p.Leu4249Pro) c.5870-3403T>C (n.5870-3403T>C) | dbSNP |
| 2 | g.21002676A>T | CA345970570 | APOB | c.12746T>A (p.Leu4249Gln) c.5870-3403T>A (n.5870-3403T>A) | |
| 2 | g.21002677G>A | CA425342332 | APOB | c.12745C>T (p.Leu4249=) c.5870-3404C>T (n.5870-3404C>T) | gnomAD v4 |
| 2 | g.21002677G>C | CA345970571 | APOB | c.12745C>G (p.Leu4249Val) c.5870-3404C>G (n.5870-3404C>G) | |
| 2 | g.21002677G>T | CA345970572 | APOB | c.12745C>A (p.Leu4249Ile) c.5870-3404C>A (n.5870-3404C>A) | gnomAD v4 |
| 2 | g.21002678G>A | CA425342335 | APOB | c.12744C>T (p.Asp4248=) c.5870-3405C>T (n.5870-3405C>T) | ClinVar dbSNP |
| 2 | g.21002678G>C | CA345970573 | APOB | c.12744C>G (p.Asp4248Glu) c.5870-3405C>G (n.5870-3405C>G) | |
| 2 | g.21002678G= | CA2493473091 | APOB | c.12744C= (p.Asp4248=) c.5870-3405C= (n.5870-3405C=) | |
| 2 | g.21002678G>T | CA345970574 | APOB | c.12744C>A (p.Asp4248Glu) c.5870-3405C>A (n.5870-3405C>A) | |
| 2 | g.21002679T>A | CA345970575 | APOB | c.12743A>T (p.Asp4248Val) c.5870-3406A>T (n.5870-3406A>T) | |
| 2 | g.21002679T>C | CA345970576 | APOB | c.12743A>G (p.Asp4248Gly) c.5870-3406A>G (n.5870-3406A>G) | gnomAD v4 |
| 2 | g.21002679T>G | CA345970577 | APOB | c.12743A>C (p.Asp4248Ala) c.5870-3406A>C (n.5870-3406A>C) | |
| 2 | g.21002680C>A | CA345970578 | APOB | c.12742G>T (p.Asp4248Tyr) c.5870-3407G>T (n.5870-3407G>T) | |
| 2 | g.21002680C= | CA2493473092 | APOB | c.12742G= (p.Asp4248=) c.5870-3407G= (n.5870-3407G=) | |
| 2 | g.21002680C>G | CA345970579 | APOB | c.12742G>C (p.Asp4248His) c.5870-3407G>C (n.5870-3407G>C) | |
| 2 | g.21002680C>T | CA345970580 | APOB | c.12742G>A (p.Asp4248Asn) c.5870-3407G>A (n.5870-3407G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21002681T>A | CA345970581 | APOB | c.12741A>T (p.Gln4247His) c.5870-3408A>T (n.5870-3408A>T) | |
| 2 | g.21002681T>C | CA425342340 | APOB | c.12741A>G (p.Gln4247=) c.5870-3408A>G (n.5870-3408A>G) | dbSNP gnomAD v4 |
| 2 | g.21002681T>G | CA345970582 | APOB | c.12741A>C (p.Gln4247His) c.5870-3408A>C (n.5870-3408A>C) | COSMIC |
| 2 | g.21002681T= | CA2493473093 | APOB | c.12741A= (p.Gln4247=) c.5870-3408A= (n.5870-3408A=) | |
| 2 | g.21002682T>A | CA345970583 | APOB | c.12740A>T (p.Gln4247Leu) c.5870-3409A>T (n.5870-3409A>T) | |
| 2 | g.21002682T>C | CA345970584 | APOB | c.12740A>G (p.Gln4247Arg) c.5870-3409A>G (n.5870-3409A>G) | |
| 2 | g.21002682T>G | CA345970585 | APOB | c.12740A>C (p.Gln4247Pro) c.5870-3409A>C (n.5870-3409A>C) | |
| 2 | g.21002683G>A | CA43488656 | APOB | c.12739C>T (p.Gln4247Ter) c.5870-3410C>T (n.5870-3410C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002683G>C | CA345970587 | APOB | c.12739C>G (p.Gln4247Glu) c.5870-3410C>G (n.5870-3410C>G) | |
| 2 | g.21002683G= | CA2493473094 | APOB | c.12739C= (p.Gln4247=) c.5870-3410C= (n.5870-3410C=) | |
| 2 | g.21002683G>T | CA345970586 | APOB | c.12739C>A (p.Gln4247Lys) c.5870-3410C>A (n.5870-3410C>A) | |
| 2 | g.21002684G>A | CA425342346 | APOB | c.12738C>T (p.Phe4246=) c.5870-3411C>T (n.5870-3411C>T) | gnomAD v4 COSMIC |
| 2 | g.21002684G>C | CA345970588 | APOB | c.12738C>G (p.Phe4246Leu) c.5870-3411C>G (n.5870-3411C>G) | |
| 2 | g.21002684G>T | CA345970589 | APOB | c.12738C>A (p.Phe4246Leu) c.5870-3411C>A (n.5870-3411C>A) | |
| 2 | g.21002685A>C | CA345970590 | APOB | c.12737T>G (p.Phe4246Cys) c.5870-3412T>G (n.5870-3412T>G) | |
| 2 | g.21002685A>G | CA345970591 | APOB | c.12737T>C (p.Phe4246Ser) c.5870-3412T>C (n.5870-3412T>C) | |
| 2 | g.21002685A>T | CA345970592 | APOB | c.12737T>A (p.Phe4246Tyr) c.5870-3412T>A (n.5870-3412T>A) | |
| 2 | g.21002686A= | CA2493473095 | APOB | c.12736T= (p.Phe4246=) c.5870-3413T= (n.5870-3413T=) | |
| 2 | g.21002686A>C | CA050982 | APOB | c.12736T>G (p.Phe4246Val) c.5870-3413T>G (n.5870-3413T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002686A>G | CA345970593 | APOB | c.12736T>C (p.Phe4246Leu) c.5870-3413T>C (n.5870-3413T>C) | |
| 2 | g.21002686A>T | CA345970594 | APOB | c.12736T>A (p.Phe4246Ile) c.5870-3413T>A (n.5870-3413T>A) | gnomAD v4 |
| 2 | g.21002687A>C | CA345970595 | APOB | c.12735T>G (p.Tyr4245Ter) c.5870-3414T>G (n.5870-3414T>G) | |
| 2 | g.21002687A>G | CA425342353 | APOB | c.12735T>C (p.Tyr4245=) c.5870-3414T>C (n.5870-3414T>C) | |
| 2 | g.21002687A>T | CA345970596 | APOB | c.12735T>A (p.Tyr4245Ter) c.5870-3414T>A (n.5870-3414T>A) | |
| 2 | g.21002688T>A | CA345970597 | APOB | c.12734A>T (p.Tyr4245Phe) c.5870-3415A>T (n.5870-3415A>T) | |
| 2 | g.21002688T>C | CA345970598 | APOB | c.12734A>G (p.Tyr4245Cys) c.5870-3415A>G (n.5870-3415A>G) | |
| 2 | g.21002688T>G | CA050973 | APOB | c.12734A>C (p.Tyr4245Ser) c.5870-3415A>C (n.5870-3415A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21002688T= | CA2493473096 | APOB | c.12734A= (p.Tyr4245=) c.5870-3415A= (n.5870-3415A=) | |
| 2 | g.21002689A>C | CA345970601 | APOB | c.12733T>G (p.Tyr4245Asp) c.5870-3416T>G (n.5870-3416T>G) | |
| 2 | g.21002689A>G | CA345970600 | APOB | c.12733T>C (p.Tyr4245His) c.5870-3416T>C (n.5870-3416T>C) | |
| 2 | g.21002689A>T | CA345970599 | APOB | c.12733T>A (p.Tyr4245Asn) c.5870-3416T>A (n.5870-3416T>A) | |
| 2 | g.21002690G>A | CA425342368 | APOB | c.12732C>T (p.Ser4244=) c.5870-3417C>T (n.5870-3417C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21002690G>C | CA425342370 | APOB | c.12732C>G (p.Ser4244=) c.5870-3417C>G (n.5870-3417C>G) | |
| 2 | g.21002690G= | CA2493473097 | APOB | c.12732C= (p.Ser4244=) c.5870-3417C= (n.5870-3417C=) | |
| 2 | g.21002690G>T | CA425342369 | APOB | c.12732C>A (p.Ser4244=) c.5870-3417C>A (n.5870-3417C>A) | |
| 2 | g.21002691G>A | CA345970602 | APOB | c.12731C>T (p.Ser4244Phe) c.5870-3418C>T (n.5870-3418C>T) | gnomAD v4 COSMIC |
| 2 | g.21002691G>C | CA43488680 | APOB | c.12731C>G (p.Ser4244Cys) c.5870-3418C>G (n.5870-3418C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002691G= | CA2493473098 | APOB | c.12731C= (p.Ser4244=) c.5870-3418C= (n.5870-3418C=) | |
| 2 | g.21002691G>T | CA345970603 | APOB | c.12731C>A (p.Ser4244Tyr) c.5870-3418C>A (n.5870-3418C>A) | |
| 2 | g.21002692A>C | CA345970604 | APOB | c.12730T>G (p.Ser4244Ala) c.5870-3419T>G (n.5870-3419T>G) | |
| 2 | g.21002692A>G | CA345970605 | APOB | c.12730T>C (p.Ser4244Pro) c.5870-3419T>C (n.5870-3419T>C) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21002692A>T | CA345970606 | APOB | c.12730T>A (p.Ser4244Thr) c.5870-3419T>A (n.5870-3419T>A) | |
| 2 | g.21002693A>C | CA345970607 | APOB | c.12729T>G (p.Phe4243Leu) c.5870-3420T>G (n.5870-3420T>G) | |
| 2 | g.21002693A>G | CA425342374 | APOB | c.12729T>C (p.Phe4243=) c.5870-3420T>C (n.5870-3420T>C) | |
| 2 | g.21002693A>T | CA345970608 | APOB | c.12729T>A (p.Phe4243Leu) c.5870-3420T>A (n.5870-3420T>A) | |
| 2 | g.21002694A>C | CA345970609 | APOB | c.12728T>G (p.Phe4243Cys) c.5870-3421T>G (n.5870-3421T>G) | ClinVar gnomAD v4 COSMIC |
| 2 | g.21002694A>G | CA345970610 | APOB | c.12728T>C (p.Phe4243Ser) c.5870-3421T>C (n.5870-3421T>C) | |
| 2 | g.21002694A>T | CA345970611 | APOB | c.12728T>A (p.Phe4243Tyr) c.5870-3421T>A (n.5870-3421T>A) | gnomAD v4 |
| 2 | g.21002695A= | CA2493473099 | APOB | c.12727T= (p.Phe4243=) c.5870-3422T= (n.5870-3422T=) | |
| 2 | g.21002695A>C | CA345970612 | APOB | c.12727T>G (p.Phe4243Val) c.5870-3422T>G (n.5870-3422T>G) | |
| 2 | g.21002695A>G | CA345970613 | APOB | c.12727T>C (p.Phe4243Leu) c.5870-3422T>C (n.5870-3422T>C) | dbSNP |
| 2 | g.21002695A>T | CA345970614 | APOB | c.12727T>A (p.Phe4243Ile) c.5870-3422T>A (n.5870-3422T>A) | |
| 2 | g.21002696C>A | CA425342379 | APOB | c.12726G>T (p.Leu4242=) c.5870-3423G>T (n.5870-3423G>T) | |
| 2 | g.21002696C>G | CA425342380 | APOB | c.12726G>C (p.Leu4242=) c.5870-3423G>C (n.5870-3423G>C) | |
| 2 | g.21002696C>T | CA425342381 | APOB | c.12726G>A (p.Leu4242=) c.5870-3423G>A (n.5870-3423G>A) | |
| 2 | g.21002697A>C | CA345970616 | APOB | c.12725T>G (p.Leu4242Arg) c.5870-3424T>G (n.5870-3424T>G) | |
| 2 | g.21002697A>G | CA345970617 | APOB | c.12725T>C (p.Leu4242Pro) c.5870-3424T>C (n.5870-3424T>C) | |
| 2 | g.21002697A>T | CA345970615 | APOB | c.12725T>A (p.Leu4242Gln) c.5870-3424T>A (n.5870-3424T>A) | |
| 2 | g.21002698G>A | CA425342383 | APOB | c.12724C>T (p.Leu4242=) c.5870-3425C>T (n.5870-3425C>T) | dbSNP |
| 2 | g.21002698G>C | CA345970618 | APOB | c.12724C>G (p.Leu4242Val) c.5870-3425C>G (n.5870-3425C>G) | gnomAD v4 |
| 2 | g.21002698G= | CA2493473100 | APOB | c.12724C= (p.Leu4242=) c.5870-3425C= (n.5870-3425C=) | |
| 2 | g.21002698G>T | CA050957 | APOB | c.12724C>A (p.Leu4242Met) c.5870-3425C>A (n.5870-3425C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002699T>A | CA43488681 | APOB | c.12723A>T (p.Ile4241=) c.5870-3426A>T (n.5870-3426A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002699T>C | CA345970619 | APOB | c.12723A>G (p.Ile4241Met) c.5870-3426A>G (n.5870-3426A>G) | |
| 2 | g.21002699T>G | CA425342387 | APOB | c.12723A>C (p.Ile4241=) c.5870-3426A>C (n.5870-3426A>C) | |
| 2 | g.21002699T= | CA2493473101 | APOB | c.12723A= (p.Ile4241=) c.5870-3426A= (n.5870-3426A=) | |
| 2 | g.21002700A= | CA2493473102 | APOB | c.12722T= (p.Ile4241=) c.5870-3427T= (n.5870-3427T=) | |
| 2 | g.21002700A>C | CA345970620 | APOB | c.12722T>G (p.Ile4241Arg) c.5870-3427T>G (n.5870-3427T>G) | |
| 2 | g.21002700A>G | CA43488686 | APOB | c.12722T>C (p.Ile4241Thr) c.5870-3427T>C (n.5870-3427T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002700A>T | CA345970621 | APOB | c.12722T>A (p.Ile4241Lys) c.5870-3427T>A (n.5870-3427T>A) | |
| 2 | g.21002701T>A | CA345970622 | APOB | c.12721A>T (p.Ile4241Leu) c.5870-3428A>T (n.5870-3428A>T) | |
| 2 | g.21002701T>C | CA345970623 | APOB | c.12721A>G (p.Ile4241Val) c.5870-3428A>G (n.5870-3428A>G) | |
| 2 | g.21002701T>G | CA345970624 | APOB | c.12721A>C (p.Ile4241Leu) c.5870-3428A>C (n.5870-3428A>C) | |
| 2 | g.21002702T>A | CA345970625 | APOB | c.12720A>T (p.Glu4240Asp) c.5870-3429A>T (n.5870-3429A>T) | |
| 2 | g.21002702T>C | CA425342392 | APOB | c.12720A>G (p.Glu4240=) c.5870-3429A>G (n.5870-3429A>G) | |
| 2 | g.21002702T>G | CA345970626 | APOB | c.12720A>C (p.Glu4240Asp) c.5870-3429A>C (n.5870-3429A>C) | |
| 2 | g.21002703T>A | CA345970629 | APOB | c.12719A>T (p.Glu4240Val) c.5870-3430A>T (n.5870-3430A>T) | |
| 2 | g.21002703T>C | CA345970628 | APOB | c.12719A>G (p.Glu4240Gly) c.5870-3430A>G (n.5870-3430A>G) | |
| 2 | g.21002703T>G | CA345970627 | APOB | c.12719A>C (p.Glu4240Ala) c.5870-3430A>C (n.5870-3430A>C) | |
| 2 | g.21002704C>A | CA345970630 | APOB | c.12718G>T (p.Glu4240Ter) c.5870-3431G>T (n.5870-3431G>T) | |
| 2 | g.21002704C>G | CA345970631 | APOB | c.12718G>C (p.Glu4240Gln) c.5870-3431G>C (n.5870-3431G>C) | |
| 2 | g.21002704C>T | CA345970632 | APOB | c.12718G>A (p.Glu4240Lys) c.5870-3431G>A (n.5870-3431G>A) | |
| 2 | g.21002705T>A | CA425342396 | APOB | c.12717A>T (p.Ser4239=) c.5870-3432A>T (n.5870-3432A>T) | |
| 2 | g.21002705T>C | CA425342397 | APOB | c.12717A>G (p.Ser4239=) c.5870-3432A>G (n.5870-3432A>G) | |
| 2 | g.21002705T>G | CA425342398 | APOB | c.12717A>C (p.Ser4239=) c.5870-3432A>C (n.5870-3432A>C) | |
| 2 | g.21002706G>A | CA345970633 | APOB | c.12716C>T (p.Ser4239Leu) c.5870-3433C>T (n.5870-3433C>T) | |
| 2 | g.21002706G>C | CA345970634 | APOB | c.12716C>G (p.Ser4239Ter) c.5870-3433C>G (n.5870-3433C>G) | |
| 2 | g.21002706G>T | CA345970635 | APOB | c.12716C>A (p.Ser4239Ter) c.5870-3433C>A (n.5870-3433C>A) | |
| 2 | g.21002707A= | CA2493473103 | APOB | c.12715T= (p.Ser4239=) c.5870-3434T= (n.5870-3434T=) | |
| 2 | g.21002707A>C | CA345970636 | APOB | c.12715T>G (p.Ser4239Ala) c.5870-3434T>G (n.5870-3434T>G) | |
| 2 | g.21002707A>G | CA050948 | APOB | c.12715T>C (p.Ser4239Pro) c.5870-3434T>C (n.5870-3434T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002707A>T | CA345970637 | APOB | c.12715T>A (p.Ser4239Thr) c.5870-3434T>A (n.5870-3434T>A) | |
| 2 | g.21002708A>C | CA425342402 | APOB | c.12714T>G (p.Gly4238=) c.5870-3435T>G (n.5870-3435T>G) | gnomAD v4 |
| 2 | g.21002708A>G | CA425342403 | APOB | c.12714T>C (p.Gly4238=) c.5870-3435T>C (n.5870-3435T>C) | |
| 2 | g.21002708A>T | CA425342404 | APOB | c.12714T>A (p.Gly4238=) c.5870-3435T>A (n.5870-3435T>A) | |
| 2 | g.21002709C>A | CA345970638 | APOB | c.12713G>T (p.Gly4238Val) c.5870-3436G>T (n.5870-3436G>T) | |
| 2 | g.21002709C>G | CA345970639 | APOB | c.12713G>C (p.Gly4238Ala) c.5870-3436G>C (n.5870-3436G>C) | |
| 2 | g.21002709C>T | CA345970640 | APOB | c.12713G>A (p.Gly4238Asp) c.5870-3436G>A (n.5870-3436G>A) | |
| 2 | g.21002710C>A | CA345970641 | APOB | c.12712G>T (p.Gly4238Cys) c.5870-3437G>T (n.5870-3437G>T) | |
| 2 | g.21002710C>G | CA345970643 | APOB | c.12712G>C (p.Gly4238Arg) c.5870-3437G>C (n.5870-3437G>C) | |
| 2 | g.21002710C>T | CA345970642 | APOB | c.12712G>A (p.Gly4238Ser) c.5870-3437G>A (n.5870-3437G>A) | |
| 2 | g.21002711A>C | CA345970644 | APOB | c.12711T>G (p.Asn4237Lys) c.5870-3438T>G (n.5870-3438T>G) | |
| 2 | g.21002711A>G | CA425342408 | APOB | c.12711T>C (p.Asn4237=) c.5870-3438T>C (n.5870-3438T>C) | gnomAD v4 |
| 2 | g.21002711A>T | CA345970645 | APOB | c.12711T>A (p.Asn4237Lys) c.5870-3438T>A (n.5870-3438T>A) | |
| 2 | g.21002712T>A | CA345970646 | APOB | c.12710A>T (p.Asn4237Ile) c.5870-3439A>T (n.5870-3439A>T) | |
| 2 | g.21002712T>C | CA345970648 | APOB | c.12710A>G (p.Asn4237Ser) c.5870-3439A>G (n.5870-3439A>G) | |
| 2 | g.21002712T>G | CA345970647 | APOB | c.12710A>C (p.Asn4237Thr) c.5870-3439A>C (n.5870-3439A>C) | |
| 2 | g.21002713T>A | CA345970649 | APOB | c.12709A>T (p.Asn4237Tyr) c.5870-3440A>T (n.5870-3440A>T) | |
| 2 | g.21002713T>C | CA345970650 | APOB | c.12709A>G (p.Asn4237Asp) c.5870-3440A>G (n.5870-3440A>G) | |
| 2 | g.21002713T>G | CA345970651 | APOB | c.12709A>C (p.Asn4237His) c.5870-3440A>C (n.5870-3440A>C) | |
| 2 | g.21002714A>C | CA345970652 | APOB | c.12708T>G (p.His4236Gln) c.5870-3441T>G (n.5870-3441T>G) | |
| 2 | g.21002714A>G | CA425342412 | APOB | c.12708T>C (p.His4236=) c.5870-3441T>C (n.5870-3441T>C) | |
| 2 | g.21002714A>T | CA345970653 | APOB | c.12708T>A (p.His4236Gln) c.5870-3441T>A (n.5870-3441T>A) | |
| 2 | g.21002715T>A | CA345970656 | APOB | c.12707A>T (p.His4236Leu) c.5870-3442A>T (n.5870-3442A>T) | |
| 2 | g.21002715T>C | CA345970655 | APOB | c.12707A>G (p.His4236Arg) c.5870-3442A>G (n.5870-3442A>G) | |
| 2 | g.21002715T>G | CA345970654 | APOB | c.12707A>C (p.His4236Pro) c.5870-3442A>C (n.5870-3442A>C) | |
| 2 | g.21002716G>A | CA345970657 | APOB | c.12706C>T (p.His4236Tyr) c.5870-3443C>T (n.5870-3443C>T) | COSMIC |
| 2 | g.21002716G>C | CA345970658 | APOB | c.12706C>G (p.His4236Asp) c.5870-3443C>G (n.5870-3443C>G) | |
| 2 | g.21002716G>T | CA345970659 | APOB | c.12706C>A (p.His4236Asn) c.5870-3443C>A (n.5870-3443C>A) | |
| 2 | g.21002717G>A | CA425342414 | APOB | c.12705C>T (p.Val4235=) c.5870-3444C>T (n.5870-3444C>T) | |
| 2 | g.21002717G>C | CA425342416 | APOB | c.12705C>G (p.Val4235=) c.5870-3444C>G (n.5870-3444C>G) | |
| 2 | g.21002717G>T | CA425342415 | APOB | c.12705C>A (p.Val4235=) c.5870-3444C>A (n.5870-3444C>A) | |
| 2 | g.21002718A= | CA2493473104 | APOB | c.12704T= (p.Val4235=) c.5870-3445T= (n.5870-3445T=) | |
| 2 | g.21002718A>C | CA345970660 | APOB | c.12704T>G (p.Val4235Gly) c.5870-3445T>G (n.5870-3445T>G) | |
| 2 | g.21002718A>G | CA050937 | APOB | c.12704T>C (p.Val4235Ala) c.5870-3445T>C (n.5870-3445T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21002718A>T | CA345970661 | APOB | c.12704T>A (p.Val4235Asp) c.5870-3445T>A (n.5870-3445T>A) | |
| 2 | g.21002719C>A | CA345970664 | APOB | c.12703G>T (p.Val4235Phe) c.5870-3446G>T (n.5870-3446G>T) | |
| 2 | g.21002719C= | CA2493473105 | APOB | c.12703G= (p.Val4235=) c.5870-3446G= (n.5870-3446G=) | |
| 2 | g.21002719C>G | CA345970662 | APOB | c.12703G>C (p.Val4235Leu) c.5870-3446G>C (n.5870-3446G>C) | |
| 2 | g.21002719C>T | CA345970663 | APOB | c.12703G>A (p.Val4235Ile) c.5870-3446G>A (n.5870-3446G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21002720T>A | CA345970665 | APOB | c.12702A>T (p.Lys4234Asn) c.5870-3447A>T (n.5870-3447A>T) | |
| 2 | g.21002720T>C | CA425342419 | APOB | c.12702A>G (p.Lys4234=) c.5870-3447A>G (n.5870-3447A>G) | |
| 2 | g.21002720T>G | CA345970666 | APOB | c.12702A>C (p.Lys4234Asn) c.5870-3447A>C (n.5870-3447A>C) | |
| 2 | g.21002721T>A | CA345970667 | APOB | c.12701A>T (p.Lys4234Ile) c.5870-3448A>T (n.5870-3448A>T) | |
| 2 | g.21002721T>C | CA345970668 | APOB | c.12701A>G (p.Lys4234Arg) c.5870-3448A>G (n.5870-3448A>G) | |
| 2 | g.21002721T>G | CA345970669 | APOB | c.12701A>C (p.Lys4234Thr) c.5870-3448A>C (n.5870-3448A>C) | |
| 2 | g.21002722T>A | CA345970670 | APOB | c.12700A>T (p.Lys4234Ter) c.5870-3449A>T (n.5870-3449A>T) | |
| 2 | g.21002722T>C | CA050931 | APOB | c.12700A>G (p.Lys4234Glu) c.5870-3449A>G (n.5870-3449A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002722T>G | CA345970671 | APOB | c.12700A>C (p.Lys4234Gln) c.5870-3449A>C (n.5870-3449A>C) | |
| 2 | g.21002722T= | CA2493473106 | APOB | c.12700A= (p.Lys4234=) c.5870-3449A= (n.5870-3449A=) | |
| 2 | g.21002723C>A | CA425342423 | APOB | c.12699G>T (p.Ser4233=) c.5870-3450G>T (n.5870-3450G>T) | gnomAD v4 |
| 2 | g.21002723C= | CA2493473107 | APOB | c.12699G= (p.Ser4233=) c.5870-3450G= (n.5870-3450G=) | |
| 2 | g.21002723C>G | CA425342424 | APOB | c.12699G>C (p.Ser4233=) c.5870-3450G>C (n.5870-3450G>C) | |
| 2 | g.21002723C>T | CA050922 | APOB | c.12699G>A (p.Ser4233=) c.5870-3450G>A (n.5870-3450G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21002724G>A | CA050911 | APOB | c.12698C>T (p.Ser4233Leu) c.5870-3451C>T (n.5870-3451C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21002724G>C | CA345970672 | APOB | c.12698C>G (p.Ser4233Trp) c.5870-3451C>G (n.5870-3451C>G) | |
| 2 | g.21002724G= | CA2493473108 | APOB | c.12698C= (p.Ser4233=) c.5870-3451C= (n.5870-3451C=) | |
| 2 | g.21002724G>T | CA345970673 | APOB | c.12698C>A (p.Ser4233Ter) c.5870-3451C>A (n.5870-3451C>A) | |
| 2 | g.21002725A= | CA2493473109 | APOB | c.12697T= (p.Ser4233=) c.5870-3452T= (n.5870-3452T=) | |
| 2 | g.21002725A>C | CA345970674 | APOB | c.12697T>G (p.Ser4233Ala) c.5870-3452T>G (n.5870-3452T>G) | |
| 2 | g.21002725A>G | CA345970675 | APOB | c.12697T>C (p.Ser4233Pro) c.5870-3452T>C (n.5870-3452T>C) | |
| 2 | g.21002725A>T | CA050895 | APOB | c.12697T>A (p.Ser4233Thr) c.5870-3452T>A (n.5870-3452T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002726A= | CA2493473110 | APOB | c.12696T= (p.Tyr4232=) c.5870-3453T= (n.5870-3453T=) | |
| 2 | g.21002726A>C | CA345970676 | APOB | c.12696T>G (p.Tyr4232Ter) c.5870-3453T>G (n.5870-3453T>G) | |
| 2 | g.21002726A>G | CA425342426 | APOB | c.12696T>C (p.Tyr4232=) c.5870-3453T>C (n.5870-3453T>C) | gnomAD v4 |
| 2 | g.21002726A>T | CA345970677 | APOB | c.12696T>A (p.Tyr4232Ter) c.5870-3453T>A (n.5870-3453T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002727T>A | CA345970678 | APOB | c.12695A>T (p.Tyr4232Phe) c.5870-3454A>T (n.5870-3454A>T) | |
| 2 | g.21002727T>C | CA050880 | APOB | c.12695A>G (p.Tyr4232Cys) c.5870-3454A>G (n.5870-3454A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21002727T>G | CA345970679 | APOB | c.12695A>C (p.Tyr4232Ser) c.5870-3454A>C (n.5870-3454A>C) | |
| 2 | g.21002727T= | CA2493473111 | APOB | c.12695A= (p.Tyr4232=) c.5870-3454A= (n.5870-3454A=) | |
| 2 | g.21002728A= | CA2493473112 | APOB | c.12694T= (p.Tyr4232=) c.5870-3455T= (n.5870-3455T=) | |
| 2 | g.21002728A>C | CA345970680 | APOB | c.12694T>G (p.Tyr4232Asp) c.5870-3455T>G (n.5870-3455T>G) | |
| 2 | g.21002728A>G | CA345970681 | APOB | c.12694T>C (p.Tyr4232His) c.5870-3455T>C (n.5870-3455T>C) | |
| 2 | g.21002728A>T | CA345970682 | APOB | c.12694T>A (p.Tyr4232Asn) c.5870-3455T>A (n.5870-3455T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21002729T>A | CA425342428 | APOB | c.12693A>T (p.Val4231=) c.5870-3456A>T (n.5870-3456A>T) | |
| 2 | g.21002729T>C | CA425342429 | APOB | c.12693A>G (p.Val4231=) c.5870-3456A>G (n.5870-3456A>G) | |
| 2 | g.21002729T>G | CA425342431 | APOB | c.12693A>C (p.Val4231=) c.5870-3456A>C (n.5870-3456A>C) | |
| 2 | g.21002730A>C | CA345970683 | APOB | c.12692T>G (p.Val4231Gly) c.5870-3457T>G (n.5870-3457T>G) | |
| 2 | g.21002730A>G | CA345970684 | APOB | c.12692T>C (p.Val4231Ala) c.5870-3457T>C (n.5870-3457T>C) | COSMIC |
| 2 | g.21002730A>T | CA345970685 | APOB | c.12692T>A (p.Val4231Glu) c.5870-3457T>A (n.5870-3457T>A) | |
| 2 | g.21002731C>A | CA345970687 | APOB | c.12691G>T (p.Val4231Leu) c.5870-3458G>T (n.5870-3458G>T) | COSMIC |
| 2 | g.21002731C= | CA2493473113 | APOB | c.12691G= (p.Val4231=) c.5870-3458G= (n.5870-3458G=) | |
| 2 | g.21002731C>G | CA345970686 | APOB | c.12691G>C (p.Val4231Leu) c.5870-3458G>C (n.5870-3458G>C) | |
| 2 | g.21002731C>T | CA050873 | APOB | c.12691G>A (p.Val4231Ile) c.5870-3458G>A (n.5870-3458G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21002732C>A | CA345970688 | APOB | c.12690G>T (p.Gln4230His) c.5870-3459G>T (n.5870-3459G>T) | dbSNP gnomAD v4 |
| 2 | g.21002732C= | CA2493473114 | APOB | c.12690G= (p.Gln4230=) c.5870-3459G= (n.5870-3459G=) | |
| 2 | g.21002732C>G | CA345970689 | APOB | c.12690G>C (p.Gln4230His) c.5870-3459G>C (n.5870-3459G>C) | |
| 2 | g.21002732C>T | CA425342434 | APOB | c.12690G>A (p.Gln4230=) c.5870-3459G>A (n.5870-3459G>A) | |
| 2 | g.21002733T>A | CA345970690 | APOB | c.12689A>T (p.Gln4230Leu) c.5870-3460A>T (n.5870-3460A>T) | |
| 2 | g.21002733T>C | CA345970691 | APOB | c.12689A>G (p.Gln4230Arg) c.5870-3460A>G (n.5870-3460A>G) | |
| 2 | g.21002733T>G | CA345970692 | APOB | c.12689A>C (p.Gln4230Pro) c.5870-3460A>C (n.5870-3460A>C) | |
| 2 | g.21002734G>A | CA345970693 | APOB | c.12688C>T (p.Gln4230Ter) c.5870-3461C>T (n.5870-3461C>T) | dbSNP gnomAD v2 |
| 2 | g.21002734G>C | CA050864 | APOB | c.12688C>G (p.Gln4230Glu) c.5870-3461C>G (n.5870-3461C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.21002734G= | CA2493473115 | APOB | c.12688C= (p.Gln4230=) c.5870-3461C= (n.5870-3461C=) | |
| 2 | g.21002734G>T | CA345970694 | APOB | c.12688C>A (p.Gln4230Lys) c.5870-3461C>A (n.5870-3461C>A) | |
| 2 | g.21002735G>A | CA425342435 | APOB | c.12687C>T (p.Ser4229=) c.5870-3462C>T (n.5870-3462C>T) | gnomAD v4 |
| 2 | g.21002735G>C | CA425342436 | APOB | c.12687C>G (p.Ser4229=) c.5870-3462C>G (n.5870-3462C>G) | |
| 2 | g.21002735G>T | CA425342437 | APOB | c.12687C>A (p.Ser4229=) c.5870-3462C>A (n.5870-3462C>A) | |
| 2 | g.21002736G>A | CA345970695 | APOB | c.12686C>T (p.Ser4229Phe) c.5870-3463C>T (n.5870-3463C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21002736G>C | CA345970696 | APOB | c.12686C>G (p.Ser4229Cys) c.5870-3463C>G (n.5870-3463C>G) | |
| 2 | g.21002736G= | CA2493473116 | APOB | c.12686C= (p.Ser4229=) c.5870-3463C= (n.5870-3463C=) | |
| 2 | g.21002736G>T | CA345970697 | APOB | c.12686C>A (p.Ser4229Tyr) c.5870-3463C>A (n.5870-3463C>A) | |
| 2 | g.21002737A>C | CA345970700 | APOB | c.12685T>G (p.Ser4229Ala) c.5870-3464T>G (n.5870-3464T>G) | |
| 2 | g.21002737A>G | CA345970699 | APOB | c.12685T>C (p.Ser4229Pro) c.5870-3464T>C (n.5870-3464T>C) | |
| 2 | g.21002737A>T | CA345970698 | APOB | c.12685T>A (p.Ser4229Thr) c.5870-3464T>A (n.5870-3464T>A) | |
| 2 | g.21002738C>A | CA425342439 | APOB | c.12684G>T (p.Leu4228=) c.5870-3465G>T (n.5870-3465G>T) | |
| 2 | g.21002738C= | CA2493473117 | APOB | c.12684G= (p.Leu4228=) c.5870-3465G= (n.5870-3465G=) | |
| 2 | g.21002738C>G | CA425342440 | APOB | c.12684G>C (p.Leu4228=) c.5870-3465G>C (n.5870-3465G>C) | gnomAD v4 |
| 2 | g.21002738C>T | CA050855 | APOB | c.12684G>A (p.Leu4228=) c.5870-3465G>A (n.5870-3465G>A) | dbSNP ExAC |
| 2 | g.21002739A= | CA2493473118 | APOB | c.12683T= (p.Leu4228=) c.5870-3466T= (n.5870-3466T=) | |
| 2 | g.21002739A>C | CA345970701 | APOB | c.12683T>G (p.Leu4228Arg) c.5870-3466T>G (n.5870-3466T>G) | dbSNP |
| 2 | g.21002739A>G | CA345970702 | APOB | c.12683T>C (p.Leu4228Pro) c.5870-3466T>C (n.5870-3466T>C) | |
| 2 | g.21002739A>T | CA050842 | APOB | c.12683T>A (p.Leu4228Gln) c.5870-3466T>A (n.5870-3466T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002739_21002744delinsAGTACC | CA2493473119 | APOB | c.12678_12683delinsGGTACT (p.Thr4226=) c.5870-3471_5870-3466delinsGGTACT (n.5870-3471_5870-3466delinsGGTACT) | |
| 2 | g.21002740G>A | CA425342444 | APOB | c.12682C>T (p.Leu4228=) c.5870-3467C>T (n.5870-3467C>T) | |
| 2 | g.21002740G>C | CA345970703 | APOB | c.12682C>G (p.Leu4228Val) c.5870-3467C>G (n.5870-3467C>G) | dbSNP |
| 2 | g.21002740G= | CA2493473120 | APOB | c.12682C= (p.Leu4228=) c.5870-3467C= (n.5870-3467C=) | |
| 2 | g.21002740G>T | CA345970704 | APOB | c.12682C>A (p.Leu4228Met) c.5870-3467C>A (n.5870-3467C>A) | |
| 2 | g.21002742_21002746del | CA913187892 | APOB | c.12678_12682del (p.Leu4228ProfsTer8) c.5870-3471_5870-3467del (n.5870-3471_5870-3467del) | dbSNP gnomAD v4 |
| 2 | g.21002741T>A | CA425342445 | APOB | c.12681A>T (p.Val4227=) c.5870-3468A>T (n.5870-3468A>T) | |
| 2 | g.21002741T>C | CA425342446 | APOB | c.12681A>G (p.Val4227=) c.5870-3468A>G (n.5870-3468A>G) | ClinVar |
| 2 | g.21002741T>G | CA425342447 | APOB | c.12681A>C (p.Val4227=) c.5870-3468A>C (n.5870-3468A>C) | |
| 2 | g.21002742A>C | CA345970707 | APOB | c.12680T>G (p.Val4227Gly) c.5870-3469T>G (n.5870-3469T>G) | |
| 2 | g.21002742A>G | CA345970705 | APOB | c.12680T>C (p.Val4227Ala) c.5870-3469T>C (n.5870-3469T>C) | |
| 2 | g.21002742A>T | CA345970706 | APOB | c.12680T>A (p.Val4227Glu) c.5870-3469T>A (n.5870-3469T>A) | |
| 2 | g.21002743C>A | CA345970708 | APOB | c.12679G>T (p.Val4227Leu) c.5870-3470G>T (n.5870-3470G>T) | COSMIC |
| 2 | g.21002743C= | CA2493473121 | APOB | c.12679G= (p.Val4227=) c.5870-3470G= (n.5870-3470G=) | |
| 2 | g.21002743C>G | CA345970709 | APOB | c.12679G>C (p.Val4227Leu) c.5870-3470G>C (n.5870-3470G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21002743C>T | CA050830 | APOB | c.12679G>A (p.Val4227Ile) c.5870-3470G>A (n.5870-3470G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002744C>A | CA050820 | APOB | c.12678G>T (p.Thr4226=) c.5870-3471G>T (n.5870-3471G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002744C= | CA2493473122 | APOB | c.12678G= (p.Thr4226=) c.5870-3471G= (n.5870-3471G=) | |
| 2 | g.21002744C>G | CA425342449 | APOB | c.12678G>C (p.Thr4226=) c.5870-3471G>C (n.5870-3471G>C) | |
| 2 | g.21002744C>T | CA050813 | APOB | c.12678G>A (p.Thr4226=) c.5870-3471G>A (n.5870-3471G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21002745G>A | CA43488754 | APOB | c.12677C>T (p.Thr4226Met) c.5870-3472C>T (n.5870-3472C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.21002745G>C | CA345970710 | APOB | c.12677C>G (p.Thr4226Arg) c.5870-3472C>G (n.5870-3472C>G) | |
| 2 | g.21002745G= | CA2493473123 | APOB | c.12677C= (p.Thr4226=) c.5870-3472C= (n.5870-3472C=) | |
| 2 | g.21002745G>T | CA345970711 | APOB | c.12677C>A (p.Thr4226Lys) c.5870-3472C>A (n.5870-3472C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21002746T>A | CA345970712 | APOB | c.12676A>T (p.Thr4226Ser) c.5870-3473A>T (n.5870-3473A>T) | |
| 2 | g.21002746T>C | CA345970713 | APOB | c.12676A>G (p.Thr4226Ala) c.5870-3473A>G (n.5870-3473A>G) | |
| 2 | g.21002746T>G | CA345970714 | APOB | c.12676A>C (p.Thr4226Pro) c.5870-3473A>C (n.5870-3473A>C) | |
| 2 | g.21002747C>A | CA425342451 | APOB | c.12675G>T (p.Gly4225=) c.5870-3474G>T (n.5870-3474G>T) | |
| 2 | g.21002747C= | CA2493473124 | APOB | c.12675G= (p.Gly4225=) c.5870-3474G= (n.5870-3474G=) | |
| 2 | g.21002747C>G | CA425342452 | APOB | c.12675G>C (p.Gly4225=) c.5870-3474G>C (n.5870-3474G>C) | |
| 2 | g.21002747C>T | CA425342455 | APOB | c.12675G>A (p.Gly4225=) c.5870-3474G>A (n.5870-3474G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21002748C>A | CA345970715 | APOB | c.12674G>T (p.Gly4225Val) c.5870-3475G>T (n.5870-3475G>T) | |
| 2 | g.21002748C= | CA2493473125 | APOB | c.12674G= (p.Gly4225=) c.5870-3475G= (n.5870-3475G=) | |
| 2 | g.21002748C>G | CA345970716 | APOB | c.12674G>C (p.Gly4225Ala) c.5870-3475G>C (n.5870-3475G>C) | |
| 2 | g.21002748C>T | CA345970717 | APOB | c.12674G>A (p.Gly4225Glu) c.5870-3475G>A (n.5870-3475G>A) | dbSNP COSMIC |
| 2 | g.21002749C>A | CA345970718 | APOB | c.12673G>T (p.Gly4225Trp) c.5870-3476G>T (n.5870-3476G>T) | |
| 2 | g.21002749C= | CA2493473126 | APOB | c.12673G= (p.Gly4225=) c.5870-3476G= (n.5870-3476G=) | |
| 2 | g.21002749C>G | CA345970719 | APOB | c.12673G>C (p.Gly4225Arg) c.5870-3476G>C (n.5870-3476G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21002749C>T | CA345970720 | APOB | c.12673G>A (p.Gly4225Arg) c.5870-3476G>A (n.5870-3476G>A) | COSMIC |
| 2 | g.21002750T>A | CA425342458 | APOB | c.12672A>T (p.Val4224=) c.5870-3477A>T (n.5870-3477A>T) | |
| 2 | g.21002750T>C | CA425342459 | APOB | c.12672A>G (p.Val4224=) c.5870-3477A>G (n.5870-3477A>G) | |
| 2 | g.21002750T>G | CA425342460 | APOB | c.12672A>C (p.Val4224=) c.5870-3477A>C (n.5870-3477A>C) | |
| 2 | g.21002751A>C | CA345970721 | APOB | c.12671T>G (p.Val4224Gly) c.5870-3478T>G (n.5870-3478T>G) | |
| 2 | g.21002751A>G | CA345970722 | APOB | c.12671T>C (p.Val4224Ala) c.5870-3478T>C (n.5870-3478T>C) | gnomAD v4 |
| 2 | g.21002751A>T | CA345970723 | APOB | c.12671T>A (p.Val4224Glu) c.5870-3478T>A (n.5870-3478T>A) | |
| 2 | g.21002752C>A | CA345970724 | APOB | c.12670G>T (p.Val4224Leu) c.5870-3479G>T (n.5870-3479G>T) | |
| 2 | g.21002752C= | CA2493473127 | APOB | c.12670G= (p.Val4224=) c.5870-3479G= (n.5870-3479G=) | |
| 2 | g.21002752C>G | CA345970726 | APOB | c.12670G>C (p.Val4224Leu) c.5870-3479G>C (n.5870-3479G>C) | |
| 2 | g.21002752C>T | CA345970725 | APOB | c.12670G>A (p.Val4224Ile) c.5870-3479G>A (n.5870-3479G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21002753C>A | CA345970727 | APOB | c.12669G>T (p.Glu4223Asp) c.5870-3480G>T (n.5870-3480G>T) | |
| 2 | g.21002753C>G | CA345970728 | APOB | c.12669G>C (p.Glu4223Asp) c.5870-3480G>C (n.5870-3480G>C) | gnomAD v4 |
| 2 | g.21002753C>T | CA425342466 | APOB | c.12669G>A (p.Glu4223=) c.5870-3480G>A (n.5870-3480G>A) | |
| 2 | g.21002754T>A | CA345970729 | APOB | c.12668A>T (p.Glu4223Val) c.5870-3481A>T (n.5870-3481A>T) | dbSNP gnomAD v4 |
| 2 | g.21002754T>C | CA345970730 | APOB | c.12668A>G (p.Glu4223Gly) c.5870-3481A>G (n.5870-3481A>G) | dbSNP gnomAD v4 |
| 2 | g.21002754T>G | CA345970731 | APOB | c.12668A>C (p.Glu4223Ala) c.5870-3481A>C (n.5870-3481A>C) | |
| 2 | g.21002754T= | CA2493473128 | APOB | c.12668A= (p.Glu4223=) c.5870-3481A= (n.5870-3481A=) | |
| 2 | g.21002755C>A | CA345970732 | APOB | c.12667G>T (p.Glu4223Ter) c.5870-3482G>T (n.5870-3482G>T) | |
| 2 | g.21002755C= | CA2493473129 | APOB | c.12667G= (p.Glu4223=) c.5870-3482G= (n.5870-3482G=) | |
| 2 | g.21002755C>G | CA345970733 | APOB | c.12667G>C (p.Glu4223Gln) c.5870-3482G>C (n.5870-3482G>C) | COSMIC |
| 2 | g.21002755C>T | CA345970734 | APOB | c.12667G>A (p.Glu4223Lys) c.5870-3482G>A (n.5870-3482G>A) | ClinVar dbSNP COSMIC |
| 2 | g.21002756C>A | CA345970735 | APOB | c.12666G>T (p.Arg4222Ser) c.5870-3483G>T (n.5870-3483G>T) | |
| 2 | g.21002756C= | CA2493473130 | APOB | c.12666G= (p.Arg4222=) c.5870-3483G= (n.5870-3483G=) | |
| 2 | g.21002756C>G | CA345970736 | APOB | c.12666G>C (p.Arg4222Ser) c.5870-3483G>C (n.5870-3483G>C) | |
| 2 | g.21002756C>T | CA425342614 | APOB | c.12666G>A (p.Arg4222=) c.5870-3483G>A (n.5870-3483G>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.21002757C>A | CA345970737 | APOB | c.12665G>T (p.Arg4222Met) c.5870-3484G>T (n.5870-3484G>T) | |
| 2 | g.21002757C= | CA2493473131 | APOB | c.12665G= (p.Arg4222=) c.5870-3484G= (n.5870-3484G=) | |
| 2 | g.21002757C>G | CA345970738 | APOB | c.12665G>C (p.Arg4222Thr) c.5870-3484G>C (n.5870-3484G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21002757C>T | CA345970739 | APOB | c.12665G>A (p.Arg4222Lys) c.5870-3484G>A (n.5870-3484G>A) | |
| 2 | g.21002758T>A | CA345970740 | APOB | c.12664A>T (p.Arg4222Trp) c.5870-3485A>T (n.5870-3485A>T) | |
| 2 | g.21002758T>C | CA345970741 | APOB | c.12664A>G (p.Arg4222Gly) c.5870-3485A>G (n.5870-3485A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21002758T>G | CA425342622 | APOB | c.12664A>C (p.Arg4222=) c.5870-3485A>C (n.5870-3485A>C) | |
| 2 | g.21002758T= | CA2493473132 | APOB | c.12664A= (p.Arg4222=) c.5870-3485A= (n.5870-3485A=) | |
| 2 | g.21002758_21002759dup | CA531312688 | APOB | c.12663_12664dup (p.Arg4222LysfsTer4) c.5870-3486_5870-3485dup (n.5870-3486_5870-3485dup) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.21002759T>A | CA425342625 | APOB | c.12663A>T (p.Ile4221=) c.5870-3486A>T (n.5870-3486A>T) | |
| 2 | g.21002759T>C | CA345970742 | APOB | c.12663A>G (p.Ile4221Met) c.5870-3486A>G (n.5870-3486A>G) | gnomAD v4 |
| 2 | g.21002759T>G | CA425342628 | APOB | c.12663A>C (p.Ile4221=) c.5870-3486A>C (n.5870-3486A>C) | |
| 2 | g.21002760A>C | CA345970743 | APOB | c.12662T>G (p.Ile4221Arg) c.5870-3487T>G (n.5870-3487T>G) | gnomAD v4 |
| 2 | g.21002760A>G | CA345970744 | APOB | c.12662T>C (p.Ile4221Thr) c.5870-3487T>C (n.5870-3487T>C) | |
| 2 | g.21002760A>T | CA345970745 | APOB | c.12662T>A (p.Ile4221Lys) c.5870-3487T>A (n.5870-3487T>A) | |
| 2 | g.21002761T>A | CA345970746 | APOB | c.12661A>T (p.Ile4221Leu) c.5870-3488A>T (n.5870-3488A>T) | dbSNP gnomAD v2 |
| 2 | g.21002761T>C | CA345970747 | APOB | c.12661A>G (p.Ile4221Val) c.5870-3488A>G (n.5870-3488A>G) | |
| 2 | g.21002761T>G | CA345970748 | APOB | c.12661A>C (p.Ile4221Leu) c.5870-3488A>C (n.5870-3488A>C) | |
| 2 | g.21002761T= | CA2493473133 | APOB | c.12661A= (p.Ile4221=) c.5870-3488A= (n.5870-3488A=) | |
| 2 | g.21002762G>A | CA425342634 | APOB | c.12660C>T (p.Phe4220=) c.5870-3489C>T (n.5870-3489C>T) | gnomAD v4 |
| 2 | g.21002762G>C | CA345970749 | APOB | c.12660C>G (p.Phe4220Leu) c.5870-3489C>G (n.5870-3489C>G) | |
| 2 | g.21002762G>T | CA345970750 | APOB | c.12660C>A (p.Phe4220Leu) c.5870-3489C>A (n.5870-3489C>A) |