Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21011309_21011317delinsTGCTTTATA | CA2493477128 | APOB | c.5551_5559delinsTATAAAGCA (p.Tyr1851=) | |
2 | g.21011314_21011321del | CA531312759 | APOB | c.5551_5558del (p.Tyr1851ArgfsTer5) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21011312T>A | CA346004468 | APOB | c.5556A>T (p.Lys1852Asn) | |
2 | g.21011312T>C | CA425346598 | APOB | c.5556A>G (p.Lys1852=) | dbSNP |
2 | g.21011312T>G | CA346004467 | APOB | c.5556A>C (p.Lys1852Asn) | |
2 | g.21011312T= | CA2493477129 | APOB | c.5556A= (p.Lys1852=) | |
2 | g.21011313T>A | CA346004469 | APOB | c.5555A>T (p.Lys1852Ile) | |
2 | g.21011313T>C | CA346004470 | APOB | c.5555A>G (p.Lys1852Arg) | gnomAD v4 |
2 | g.21011313T>G | CA346004471 | APOB | c.5555A>C (p.Lys1852Thr) | |
2 | g.21011314T>A | CA346004472 | APOB | c.5554A>T (p.Lys1852Ter) | |
2 | g.21011314T>C | CA346004473 | APOB | c.5554A>G (p.Lys1852Glu) | |
2 | g.21011314T>G | CA346004474 | APOB | c.5554A>C (p.Lys1852Gln) | |
2 | g.21011315A= | CA2493477130 | APOB | c.5553T= (p.Tyr1851=) | |
2 | g.21011315A>C | CA346004475 | APOB | c.5553T>G (p.Tyr1851Ter) | |
2 | g.21011315A>G | CA43506571 | APOB | c.5553T>C (p.Tyr1851=) | dbSNP |
2 | g.21011315A>T | CA346004476 | APOB | c.5553T>A (p.Tyr1851Ter) | |
2 | g.21011316T>A | CA346004477 | APOB | c.5552A>T (p.Tyr1851Phe) | |
2 | g.21011316T>C | CA062213 | APOB | c.5552A>G (p.Tyr1851Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21011316T>G | CA346004478 | APOB | c.5552A>C (p.Tyr1851Ser) | ClinVar |
2 | g.21011316T= | CA2493477131 | APOB | c.5552A= (p.Tyr1851=) | |
2 | g.21011317A>C | CA346004481 | APOB | c.5551T>G (p.Tyr1851Asp) | |
2 | g.21011317A>G | CA346004479 | APOB | c.5551T>C (p.Tyr1851His) | |
2 | g.21011317A>T | CA346004480 | APOB | c.5551T>A (p.Tyr1851Asn) | |
2 | g.21011318G>A | CA425346608 | APOB | c.5550C>T (p.Ser1850=) | dbSNP |
2 | g.21011318G>C | CA346004482 | APOB | c.5550C>G (p.Ser1850Arg) | gnomAD v4 |
2 | g.21011318G= | CA2493477132 | APOB | c.5550C= (p.Ser1850=) | |
2 | g.21011318G>T | CA346004483 | APOB | c.5550C>A (p.Ser1850Arg) | |
2 | g.21011319C>A | CA346004484 | APOB | c.5549G>T (p.Ser1850Ile) | |
2 | g.21011319C>G | CA346004485 | APOB | c.5549G>C (p.Ser1850Thr) | |
2 | g.21011319C>T | CA346004486 | APOB | c.5549G>A (p.Ser1850Asn) | |
2 | g.21011320T>A | CA346004487 | APOB | c.5548A>T (p.Ser1850Cys) | |
2 | g.21011320T>C | CA346004488 | APOB | c.5548A>G (p.Ser1850Gly) | |
2 | g.21011320T>G | CA346004489 | APOB | c.5548A>C (p.Ser1850Arg) | |
2 | g.21011321T>A | CA425346613 | APOB | c.5547A>T (p.Ala1849=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21011321T>C | CA425346614 | APOB | c.5547A>G (p.Ala1849=) | |
2 | g.21011321T>G | CA425346616 | APOB | c.5547A>C (p.Ala1849=) | |
2 | g.21011321T= | CA2493477133 | APOB | c.5547A= (p.Ala1849=) | |
2 | g.21011322G>A | CA346004490 | APOB | c.5546C>T (p.Ala1849Val) | |
2 | g.21011322G>C | CA346004491 | APOB | c.5546C>G (p.Ala1849Gly) | |
2 | g.21011322G= | CA2493477134 | APOB | c.5546C= (p.Ala1849=) | |
2 | g.21011322G>T | CA346004492 | APOB | c.5546C>A (p.Ala1849Glu) | dbSNP |
2 | g.21011323del | CA2740092729 | APOB | c.5545del (p.Ala1849GlnfsTer?) | ClinVar |
2 | g.21011323C>A | CA062208 | APOB | c.5545G>T (p.Ala1849Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21011323C= | CA2493477135 | APOB | c.5545G= (p.Ala1849=) | |
2 | g.21011323C>G | CA346004494 | APOB | c.5545G>C (p.Ala1849Pro) | COSMIC |
2 | g.21011323C>T | CA346004493 | APOB | c.5545G>A (p.Ala1849Thr) | |
2 | g.21011324T>A | CA425346621 | APOB | c.5544A>T (p.Ser1848=) | gnomAD v4 |
2 | g.21011324T>C | CA425346622 | APOB | c.5544A>G (p.Ser1848=) | |
2 | g.21011324T>G | CA425346623 | APOB | c.5544A>C (p.Ser1848=) | COSMIC |
2 | g.21011325G>A | CA346004495 | APOB | c.5543C>T (p.Ser1848Leu) | COSMIC |
2 | g.21011325G>C | CA346004496 | APOB | c.5543C>G (p.Ser1848Ter) | |
2 | g.21011325G>T | CA346004497 | APOB | c.5543C>A (p.Ser1848Ter) | |
2 | g.21011326A>C | CA346004498 | APOB | c.5542T>G (p.Ser1848Ala) | |
2 | g.21011326A>G | CA346004499 | APOB | c.5542T>C (p.Ser1848Pro) | |
2 | g.21011326A>T | CA346004500 | APOB | c.5542T>A (p.Ser1848Thr) | |
2 | g.21011327T>A | CA346004501 | APOB | c.5541A>T (p.Leu1847Phe) | |
2 | g.21011327T>C | CA425346628 | APOB | c.5541A>G (p.Leu1847=) | |
2 | g.21011327T>G | CA346004502 | APOB | c.5541A>C (p.Leu1847Phe) | gnomAD v4 |
2 | g.21011328A>C | CA346004503 | APOB | c.5540T>G (p.Leu1847Ter) | |
2 | g.21011328A>G | CA346004504 | APOB | c.5540T>C (p.Leu1847Ser) | |
2 | g.21011328A>T | CA346004505 | APOB | c.5540T>A (p.Leu1847Ter) | |
2 | g.21011329A>C | CA346004506 | APOB | c.5539T>G (p.Leu1847Val) | gnomAD v3 gnomAD v4 |
2 | g.21011329A>G | CA425346630 | APOB | c.5539T>C (p.Leu1847=) | |
2 | g.21011329A>T | CA346004507 | APOB | c.5539T>A (p.Leu1847Ile) | |
2 | g.21011330G>A | CA425346632 | APOB | c.5538C>T (p.Ala1846=) | |
2 | g.21011330G>C | CA425346633 | APOB | c.5538C>G (p.Ala1846=) | gnomAD v4 |
2 | g.21011330G>T | CA425346634 | APOB | c.5538C>A (p.Ala1846=) | |
2 | g.21011331G>A | CA346004510 | APOB | c.5537C>T (p.Ala1846Val) | gnomAD v4 |
2 | g.21011331G>C | CA346004508 | APOB | c.5537C>G (p.Ala1846Gly) | |
2 | g.21011331G= | CA2493477136 | APOB | c.5537C= (p.Ala1846=) | |
2 | g.21011331G>T | CA346004509 | APOB | c.5537C>A (p.Ala1846Asp) | dbSNP gnomAD v4 |
2 | g.21011335_21011337del | CA913089799 | APOB | c.5535_5537del (p.Ala1846del) | |
2 | g.21011332C>A | CA346004511 | APOB | c.5536G>T (p.Ala1846Ser) | |
2 | g.21011332C= | CA2493477137 | APOB | c.5536G= (p.Ala1846=) | |
2 | g.21011332C>G | CA346004512 | APOB | c.5536G>C (p.Ala1846Pro) | |
2 | g.21011332C>T | CA062200 | APOB | c.5536G>A (p.Ala1846Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21011333A= | CA2493477138 | APOB | c.5535T= (p.Ala1845=) | |
2 | g.21011333A>C | CA425346223 | APOB | c.5535T>G (p.Ala1845=) | |
2 | g.21011333A>G | CA43506597 | APOB | c.5535T>C (p.Ala1845=) | dbSNP gnomAD v4 |
2 | g.21011333A>T | CA425346224 | APOB | c.5535T>A (p.Ala1845=) | |
2 | g.21011334G>A | CA346004513 | APOB | c.5534C>T (p.Ala1845Val) | |
2 | g.21011334G>C | CA346004514 | APOB | c.5534C>G (p.Ala1845Gly) | |
2 | g.21011334G>T | CA346004515 | APOB | c.5534C>A (p.Ala1845Asp) | |
2 | g.21011335C>A | CA346004516 | APOB | c.5533G>T (p.Ala1845Ser) | |
2 | g.21011335C>G | CA346004517 | APOB | c.5533G>C (p.Ala1845Pro) | |
2 | g.21011335C>T | CA346004518 | APOB | c.5533G>A (p.Ala1845Thr) | |
2 | g.21011336A>C | CA425346231 | APOB | c.5532T>G (p.Ser1844=) | |
2 | g.21011336A>G | CA425346230 | APOB | c.5532T>C (p.Ser1844=) | ClinVar |
2 | g.21011336A>T | CA425346228 | APOB | c.5532T>A (p.Ser1844=) | |
2 | g.21011337G>A | CA346004519 | APOB | c.5531C>T (p.Ser1844Phe) | gnomAD v4 COSMIC |
2 | g.21011337G>C | CA346004520 | APOB | c.5531C>G (p.Ser1844Cys) | dbSNP |
2 | g.21011337G= | CA2493477139 | APOB | c.5531C= (p.Ser1844=) | |
2 | g.21011337G>T | CA346004521 | APOB | c.5531C>A (p.Ser1844Tyr) | dbSNP |
2 | g.21011338A= | CA2493477140 | APOB | c.5530T= (p.Ser1844=) | |
2 | g.21011338A>C | CA346004523 | APOB | c.5530T>G (p.Ser1844Ala) | |
2 | g.21011338A>G | CA346004524 | APOB | c.5530T>C (p.Ser1844Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21011338A>T | CA346004522 | APOB | c.5530T>A (p.Ser1844Thr) | |
2 | g.21011339A= | CA2493477141 | APOB | c.5529T= (p.Ser1843=) | |
2 | g.21011339A>C | CA425346235 | APOB | c.5529T>G (p.Ser1843=) | |
2 | g.21011339A>G | CA425346234 | APOB | c.5529T>C (p.Ser1843=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21011339A>T | CA425346233 | APOB | c.5529T>A (p.Ser1843=) | |
2 | g.21011340G>A | CA346004525 | APOB | c.5528C>T (p.Ser1843Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21011340G>C | CA346004526 | APOB | c.5528C>G (p.Ser1843Cys) | |
2 | g.21011340G= | CA2493477142 | APOB | c.5528C= (p.Ser1843=) | |
2 | g.21011340G>T | CA346004527 | APOB | c.5528C>A (p.Ser1843Tyr) | |
2 | g.21011341A>C | CA346004528 | APOB | c.5527T>G (p.Ser1843Ala) | |
2 | g.21011341A>G | CA346004529 | APOB | c.5527T>C (p.Ser1843Pro) | |
2 | g.21011341A>T | CA346004530 | APOB | c.5527T>A (p.Ser1843Thr) | |
2 | g.21011341_21011342insAA | CA2493477143 | APOB | c.5527_5528insTT (p.Ser1843PhefsTer?) | dbSNP |
2 | g.21011342G>A | CA425346236 | APOB | c.5526C>T (p.Ile1842=) | gnomAD v4 |
2 | g.21011342G>C | CA346004531 | APOB | c.5526C>G (p.Ile1842Met) | |
2 | g.21011342G>T | CA425346238 | APOB | c.5526C>A (p.Ile1842=) | |
2 | g.21011343A= | CA2493477144 | APOB | c.5525T= (p.Ile1842=) | |
2 | g.21011343A>C | CA346004532 | APOB | c.5525T>G (p.Ile1842Ser) | |
2 | g.21011343A>G | CA346004533 | APOB | c.5525T>C (p.Ile1842Thr) | |
2 | g.21011343A>T | CA346004534 | APOB | c.5525T>A (p.Ile1842Asn) | |
2 | g.21011343_21011344insG | CA2493477145 | APOB | c.5524_5525insC (p.Ile1842ThrfsTer11) | dbSNP |
2 | g.21011344T>A | CA346004535 | APOB | c.5524A>T (p.Ile1842Phe) | |
2 | g.21011344T>C | CA346004536 | APOB | c.5524A>G (p.Ile1842Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21011344T>G | CA346004537 | APOB | c.5524A>C (p.Ile1842Leu) | |
2 | g.21011344T= | CA2493477146 | APOB | c.5524A= (p.Ile1842=) | |
2 | g.21011345G>A | CA425346242 | APOB | c.5523C>T (p.Ala1841=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21011345G>C | CA425346245 | APOB | c.5523C>G (p.Ala1841=) | |
2 | g.21011345G= | CA2493477148 | APOB | c.5523C= (p.Ala1841=) | |
2 | g.21011345G>T | CA425346248 | APOB | c.5523C>A (p.Ala1841=) | |
2 | g.21011345_21011348delinsGGCA | CA2493477147 | APOB | c.5520_5523delinsTGCC (p.Tyr1840=) | |
2 | g.21011346G>A | CA346004540 | APOB | c.5522C>T (p.Ala1841Val) | gnomAD v4 |
2 | g.21011346G>C | CA346004539 | APOB | c.5522C>G (p.Ala1841Gly) | |
2 | g.21011346G>T | CA346004538 | APOB | c.5522C>A (p.Ala1841Asp) | |
2 | g.21011346_21011348del | CA2493477149 | APOB | c.5520_5522del (p.Ala1841del) | dbSNP |
2 | g.21011347C>A | CA346004541 | APOB | c.5521G>T (p.Ala1841Ser) | |
2 | g.21011347C= | CA2493477150 | APOB | c.5521G= (p.Ala1841=) | |
2 | g.21011347C>G | CA346004542 | APOB | c.5521G>C (p.Ala1841Pro) | |
2 | g.21011347C>T | CA43506599 | APOB | c.5521G>A (p.Ala1841Thr) | dbSNP |
2 | g.21011348A>C | CA346004543 | APOB | c.5520T>G (p.Tyr1840Ter) | |
2 | g.21011348A>G | CA425346252 | APOB | c.5520T>C (p.Tyr1840=) | |
2 | g.21011348A>T | CA346004544 | APOB | c.5520T>A (p.Tyr1840Ter) | |
2 | g.21011349T>A | CA346004545 | APOB | c.5519A>T (p.Tyr1840Phe) | |
2 | g.21011349T>C | CA43506602 | APOB | c.5519A>G (p.Tyr1840Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21011349T>G | CA346004546 | APOB | c.5519A>C (p.Tyr1840Ser) | |
2 | g.21011349T= | CA2493477151 | APOB | c.5519A= (p.Tyr1840=) | |
2 | g.21011350A>C | CA346004547 | APOB | c.5518T>G (p.Tyr1840Asp) | |
2 | g.21011350A>G | CA346004548 | APOB | c.5518T>C (p.Tyr1840His) | |
2 | g.21011350A>T | CA346004549 | APOB | c.5518T>A (p.Tyr1840Asn) | |
2 | g.21011351G>A | CA425346256 | APOB | c.5517C>T (p.Ile1839=) | ClinVar |
2 | g.21011351G>C | CA346004550 | APOB | c.5517C>G (p.Ile1839Met) | COSMIC |
2 | g.21011351G>T | CA425346259 | APOB | c.5517C>A (p.Ile1839=) | |
2 | g.21011352A>C | CA346004551 | APOB | c.5516T>G (p.Ile1839Ser) | |
2 | g.21011352A>G | CA346004552 | APOB | c.5516T>C (p.Ile1839Thr) | ClinVar gnomAD v4 |
2 | g.21011352A>T | CA346004553 | APOB | c.5516T>A (p.Ile1839Asn) | |
2 | g.21011353T>A | CA062195 | APOB | c.*4821A>T (n.*4821A>T) c.5229A>T (n.5229A>T) c.5515A>T (p.Ile1839Phe) | dbSNP ExAC gnomAD v2 |
2 | g.21011353T>C | CA346004555 | APOB | c.*4821A>G (n.*4821A>G) c.5229A>G (n.5229A>G) c.5515A>G (p.Ile1839Val) | |
2 | g.21011353T>G | CA346004554 | APOB | c.*4821A>C (n.*4821A>C) c.5229A>C (n.5229A>C) c.5515A>C (p.Ile1839Leu) | |
2 | g.21011353T= | CA2493477152 | APOB | c.*4821A= (n.*4821A=) c.5229A= (n.5229A=) c.5515A= (p.Ile1839=) | |
2 | g.21011354G>A | CA425346260 | APOB | c.*4820C>T (n.*4820C>T) c.5228C>T (n.5228C>T) c.5514C>T (p.His1838=) | |
2 | g.21011354G>C | CA346004556 | APOB | c.*4820C>G (n.*4820C>G) c.5228C>G (n.5228C>G) c.5514C>G (p.His1838Gln) | |
2 | g.21011354G>T | CA346004557 | APOB | c.*4820C>A (n.*4820C>A) c.5228C>A (n.5228C>A) c.5514C>A (p.His1838Gln) | |
2 | g.21011355T>A | CA346004558 | APOB | c.*4819A>T (n.*4819A>T) c.5227A>T (n.5227A>T) c.5513A>T (p.His1838Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21011355T>C | CA346004559 | APOB | c.*4819A>G (n.*4819A>G) c.5227A>G (n.5227A>G) c.5513A>G (p.His1838Arg) | |
2 | g.21011355T>G | CA346004560 | APOB | c.*4819A>C (n.*4819A>C) c.5227A>C (n.5227A>C) c.5513A>C (p.His1838Pro) | gnomAD v4 |
2 | g.21011355T= | CA2493477153 | APOB | c.*4819A= (n.*4819A=) c.5227A= (n.5227A=) c.5513A= (p.His1838=) | |
2 | g.21011356G>A | CA346004561 | APOB | c.*4818C>T (n.*4818C>T) c.5226C>T (n.5226C>T) c.5512C>T (p.His1838Tyr) | |
2 | g.21011356G>C | CA346004562 | APOB | c.*4818C>G (n.*4818C>G) c.5226C>G (n.5226C>G) c.5512C>G (p.His1838Asp) | |
2 | g.21011356G>T | CA346004563 | APOB | c.*4818C>A (n.*4818C>A) c.5226C>A (n.5226C>A) c.5512C>A (p.His1838Asn) | |
2 | g.21011357T>A | CA346004564 | APOB | c.*4817A>T (n.*4817A>T) c.5225A>T (n.5225A>T) c.5511A>T (p.Lys1837Asn) | |
2 | g.21011357T>C | CA425346262 | APOB | c.*4817A>G (n.*4817A>G) c.5225A>G (n.5225A>G) c.5511A>G (p.Lys1837=) | dbSNP |
2 | g.21011357T>G | CA346004565 | APOB | c.*4817A>C (n.*4817A>C) c.5225A>C (n.5225A>C) c.5511A>C (p.Lys1837Asn) | |
2 | g.21011357T= | CA2493477154 | APOB | c.*4817A= (n.*4817A=) c.5225A= (n.5225A=) c.5511A= (p.Lys1837=) | |
2 | g.21011358T>A | CA346004566 | APOB | c.*4816A>T (n.*4816A>T) c.5224A>T (n.5224A>T) c.5510A>T (p.Lys1837Ile) | |
2 | g.21011358T>C | CA346004567 | APOB | c.*4816A>G (n.*4816A>G) c.5224A>G (n.5224A>G) c.5510A>G (p.Lys1837Arg) | |
2 | g.21011358T>G | CA346004568 | APOB | c.*4816A>C (n.*4816A>C) c.5224A>C (n.5224A>C) c.5510A>C (p.Lys1837Thr) | |
2 | g.21011359T>A | CA346004571 | APOB | c.*4815A>T (n.*4815A>T) c.5223A>T (n.5223A>T) c.5509A>T (p.Lys1837Ter) | |
2 | g.21011359T>C | CA346004569 | APOB | c.*4815A>G (n.*4815A>G) c.5223A>G (n.5223A>G) c.5509A>G (p.Lys1837Glu) | |
2 | g.21011359T>G | CA346004570 | APOB | c.*4815A>C (n.*4815A>C) c.5223A>C (n.5223A>C) c.5509A>C (p.Lys1837Gln) | |
2 | g.21011360T>A | CA425346266 | APOB | c.*4814A>T (n.*4814A>T) c.5222A>T (n.5222A>T) c.5508A>T (p.Ile1836=) | |
2 | g.21011360T>C | CA346004572 | APOB | c.*4814A>G (n.*4814A>G) c.5222A>G (n.5222A>G) c.5508A>G (p.Ile1836Met) | gnomAD v4 |
2 | g.21011360T>G | CA425346267 | APOB | c.*4814A>C (n.*4814A>C) c.5222A>C (n.5222A>C) c.5508A>C (p.Ile1836=) | |
2 | g.21011361A= | CA2493477155 | APOB | c.*4813T= (n.*4813T=) c.5221T= (n.5221T=) c.5507T= (p.Ile1836=) | |
2 | g.21011361A>C | CA43506631 | APOB | c.*4813T>G (n.*4813T>G) c.5221T>G (n.5221T>G) c.5507T>G (p.Ile1836Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21011361A>G | CA346004573 | APOB | c.*4813T>C (n.*4813T>C) c.5221T>C (n.5221T>C) c.5507T>C (p.Ile1836Thr) | |
2 | g.21011361A>T | CA346004574 | APOB | c.*4813T>A (n.*4813T>A) c.5221T>A (n.5221T>A) c.5507T>A (p.Ile1836Lys) | |
2 | g.21011362T>A | CA062188 | APOB | c.*4812A>T (n.*4812A>T) c.5220A>T (n.5220A>T) c.5506A>T (p.Ile1836Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21011362T>C | CA346004575 | APOB | c.*4812A>G (n.*4812A>G) c.5220A>G (n.5220A>G) c.5506A>G (p.Ile1836Val) | gnomAD v4 |
2 | g.21011362T>G | CA346004576 | APOB | c.*4812A>C (n.*4812A>C) c.5220A>C (n.5220A>C) c.5506A>C (p.Ile1836Leu) | |
2 | g.21011362T= | CA2493477156 | APOB | c.*4812A= (n.*4812A=) c.5220A= (n.5220A=) c.5506A= (p.Ile1836=) | |
2 | g.21011363T>A | CA346004577 | APOB | c.*4811A>T (n.*4811A>T) c.5219A>T (n.5219A>T) c.5505A>T (p.Glu1835Asp) | |
2 | g.21011363T>C | CA425346270 | APOB | c.*4811A>G (n.*4811A>G) c.5219A>G (n.5219A>G) c.5505A>G (p.Glu1835=) | |
2 | g.21011363T>G | CA346004578 | APOB | c.*4811A>C (n.*4811A>C) c.5219A>C (n.5219A>C) c.5505A>C (p.Glu1835Asp) | |
2 | g.21011364T>A | CA346004579 | APOB | c.*4810A>T (n.*4810A>T) c.5218A>T (n.5218A>T) c.5504A>T (p.Glu1835Val) | |
2 | g.21011364T>C | CA346004580 | APOB | c.*4810A>G (n.*4810A>G) c.5218A>G (n.5218A>G) c.5504A>G (p.Glu1835Gly) | |
2 | g.21011364T>G | CA346004581 | APOB | c.*4810A>C (n.*4810A>C) c.5218A>C (n.5218A>C) c.5504A>C (p.Glu1835Ala) | |
2 | g.21011365C>A | CA346004582 | APOB | c.*4809G>T (n.*4809G>T) c.5217G>T (n.5217G>T) c.5503G>T (p.Glu1835Ter) | |
2 | g.21011365C>G | CA346004584 | APOB | c.*4809G>C (n.*4809G>C) c.5217G>C (n.5217G>C) c.5503G>C (p.Glu1835Gln) | |
2 | g.21011365C>T | CA346004583 | APOB | c.*4809G>A (n.*4809G>A) c.5217G>A (n.5217G>A) c.5503G>A (p.Glu1835Lys) | COSMIC |
2 | g.21011366A= | CA2493477157 | APOB | c.*4808T= (n.*4808T=) c.5216T= (n.5216T=) c.5502T= (p.Asn1834=) | |
2 | g.21011366A>C | CA346004585 | APOB | c.*4808T>G (n.*4808T>G) c.5216T>G (n.5216T>G) c.5502T>G (p.Asn1834Lys) | |
2 | g.21011366A>G | CA425346275 | APOB | c.*4808T>C (n.*4808T>C) c.5216T>C (n.5216T>C) c.5502T>C (p.Asn1834=) | |
2 | g.21011366A>T | CA346004586 | APOB | c.*4808T>A (n.*4808T>A) c.5216T>A (n.5216T>A) c.5502T>A (p.Asn1834Lys) | |
2 | g.21011367T>A | CA346004587 | APOB | c.*4807A>T (n.*4807A>T) c.5215A>T (n.5215A>T) c.5501A>T (p.Asn1834Ile) | |
2 | g.21011367T>C | CA346004588 | APOB | c.*4807A>G (n.*4807A>G) c.5215A>G (n.5215A>G) c.5501A>G (p.Asn1834Ser) | |
2 | g.21011367T>G | CA346004589 | APOB | c.*4807A>C (n.*4807A>C) c.5215A>C (n.5215A>C) c.5501A>C (p.Asn1834Thr) | |
2 | g.21011368dup | CA913187952 | APOB | c.*4807dup (n.*4807dup) c.5215dup (n.5215dup) c.5501dup (p.Asn1834LysfsTer2) | dbSNP |
2 | g.21011368T>A | CA346004590 | APOB | c.*4806A>T (n.*4806A>T) c.5214A>T (n.5214A>T) c.5500A>T (p.Asn1834Tyr) | |
2 | g.21011368T>C | CA346004591 | APOB | c.*4806A>G (n.*4806A>G) c.5214A>G (n.5214A>G) c.5500A>G (p.Asn1834Asp) | |
2 | g.21011368T>G | CA346004592 | APOB | c.*4806A>C (n.*4806A>C) c.5214A>C (n.5214A>C) c.5500A>C (p.Asn1834His) | |
2 | g.21011369A>C | CA346004593 | APOB | c.*4805T>G (n.*4805T>G) c.5213T>G (n.5213T>G) c.5499T>G (p.Asn1833Lys) | |
2 | g.21011369A>G | CA425346279 | APOB | c.*4805T>C (n.*4805T>C) c.5213T>C (n.5213T>C) c.5499T>C (p.Asn1833=) | |
2 | g.21011369A>T | CA346004594 | APOB | c.*4805T>A (n.*4805T>A) c.5213T>A (n.5213T>A) c.5499T>A (p.Asn1833Lys) | |
2 | g.21011370T>A | CA346004595 | APOB | c.*4804A>T (n.*4804A>T) c.5212A>T (n.5212A>T) c.5498A>T (p.Asn1833Ile) | |
2 | g.21011370T>C | CA346004596 | APOB | c.*4804A>G (n.*4804A>G) c.5212A>G (n.5212A>G) c.5498A>G (p.Asn1833Ser) | |
2 | g.21011370T>G | CA346004597 | APOB | c.*4804A>C (n.*4804A>C) c.5212A>C (n.5212A>C) c.5498A>C (p.Asn1833Thr) | |
2 | g.21011371T>A | CA346004598 | APOB | c.*4803A>T (n.*4803A>T) c.5211A>T (n.5211A>T) c.5497A>T (p.Asn1833Tyr) | |
2 | g.21011371T>C | CA346004599 | APOB | c.*4803A>G (n.*4803A>G) c.5211A>G (n.5211A>G) c.5497A>G (p.Asn1833Asp) | |
2 | g.21011371T>G | CA346004600 | APOB | c.*4803A>C (n.*4803A>C) c.5211A>C (n.5211A>C) c.5497A>C (p.Asn1833His) | |
2 | g.21011372T>A | CA346004601 | APOB | c.*4802A>T (n.*4802A>T) c.5210A>T (n.5210A>T) c.5496A>T (p.Gln1832His) | |
2 | g.21011372T>C | CA425346285 | APOB | c.*4802A>G (n.*4802A>G) c.5210A>G (n.5210A>G) c.5496A>G (p.Gln1832=) | |
2 | g.21011372T>G | CA346004602 | APOB | c.*4802A>C (n.*4802A>C) c.5210A>C (n.5210A>C) c.5496A>C (p.Gln1832His) | |
2 | g.21011373T>A | CA346004603 | APOB | c.*4801A>T (n.*4801A>T) c.5209A>T (n.5209A>T) c.5495A>T (p.Gln1832Leu) | |
2 | g.21011373T>C | CA346004604 | APOB | c.*4801A>G (n.*4801A>G) c.5209A>G (n.5209A>G) c.5495A>G (p.Gln1832Arg) | gnomAD v4 |
2 | g.21011373T>G | CA346004605 | APOB | c.*4801A>C (n.*4801A>C) c.5209A>C (n.5209A>C) c.5495A>C (p.Gln1832Pro) | |
2 | g.21011374G>A | CA346004606 | APOB | c.*4800C>T (n.*4800C>T) c.5208C>T (n.5208C>T) c.5494C>T (p.Gln1832Ter) | |
2 | g.21011374G>C | CA346004607 | APOB | c.*4800C>G (n.*4800C>G) c.5208C>G (n.5208C>G) c.5494C>G (p.Gln1832Glu) | dbSNP |
2 | g.21011374G= | CA2493477158 | APOB | c.*4800C= (n.*4800C=) c.5208C= (n.5208C=) c.5494C= (p.Gln1832=) | |
2 | g.21011374G>T | CA346004608 | APOB | c.*4800C>A (n.*4800C>A) c.5208C>A (n.5208C>A) c.5494C>A (p.Gln1832Lys) | |
2 | g.21011375G>A | CA425346286 | APOB | c.*4799C>T (n.*4799C>T) c.5207C>T (n.5207C>T) c.5493C>T (p.Tyr1831=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21011375G>C | CA346004609 | APOB | c.*4799C>G (n.*4799C>G) c.5207C>G (n.5207C>G) c.5493C>G (p.Tyr1831Ter) | |
2 | g.21011375G= | CA2493477159 | APOB | c.*4799C= (n.*4799C=) c.5207C= (n.5207C=) c.5493C= (p.Tyr1831=) | |
2 | g.21011375G>T | CA346004610 | APOB | c.*4799C>A (n.*4799C>A) c.5207C>A (n.5207C>A) c.5493C>A (p.Tyr1831Ter) | |
2 | g.21011376T>A | CA346004611 | APOB | c.*4798A>T (n.*4798A>T) c.5206A>T (n.5206A>T) c.5492A>T (p.Tyr1831Phe) | |
2 | g.21011376T>C | CA346004612 | APOB | c.*4798A>G (n.*4798A>G) c.5206A>G (n.5206A>G) c.5492A>G (p.Tyr1831Cys) | ClinVar |
2 | g.21011376T>G | CA062182 | APOB | c.*4798A>C (n.*4798A>C) c.5206A>C (n.5206A>C) c.5492A>C (p.Tyr1831Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21011376T= | CA2493477160 | APOB | c.*4798A= (n.*4798A=) c.5206A= (n.5206A=) c.5492A= (p.Tyr1831=) | |
2 | g.21011377A= | CA2493477161 | APOB | c.*4797T= (n.*4797T=) c.5205T= (n.5205T=) c.5491T= (p.Tyr1831=) | |
2 | g.21011377A>C | CA346004615 | APOB | c.*4797T>G (n.*4797T>G) c.5205T>G (n.5205T>G) c.5491T>G (p.Tyr1831Asp) | |
2 | g.21011377A>G | CA346004614 | APOB | c.*4797T>C (n.*4797T>C) c.5205T>C (n.5205T>C) c.5491T>C (p.Tyr1831His) | dbSNP |
2 | g.21011377A>T | CA346004613 | APOB | c.*4797T>A (n.*4797T>A) c.5205T>A (n.5205T>A) c.5491T>A (p.Tyr1831Asn) | |
2 | g.21011378G>A | CA43506657 | APOB | c.*4796C>T (n.*4796C>T) c.5204C>T (n.5204C>T) c.5490C>T (p.Ala1830=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21011378G>C | CA10613959 | APOB | c.*4796C>G (n.*4796C>G) c.5204C>G (n.5204C>G) c.5490C>G (p.Ala1830=) | ClinVar dbSNP |
2 | g.21011378G= | CA2493477162 | APOB | c.*4796C= (n.*4796C=) c.5204C= (n.5204C=) c.5490C= (p.Ala1830=) | |
2 | g.21011378G>T | CA425346289 | APOB | c.*4796C>A (n.*4796C>A) c.5204C>A (n.5204C>A) c.5490C>A (p.Ala1830=) | |
2 | g.21011379G>A | CA346004616 | APOB | c.*4795C>T (n.*4795C>T) c.5203C>T (n.5203C>T) c.5489C>T (p.Ala1830Val) | |
2 | g.21011379G>C | CA346004617 | APOB | c.*4795C>G (n.*4795C>G) c.5203C>G (n.5203C>G) c.5489C>G (p.Ala1830Gly) | gnomAD v4 |
2 | g.21011379G>T | CA346004618 | APOB | c.*4795C>A (n.*4795C>A) c.5203C>A (n.5203C>A) c.5489C>A (p.Ala1830Asp) | gnomAD v4 |
2 | g.21011380C>A | CA346004619 | APOB | c.*4794G>T (n.*4794G>T) c.5202G>T (n.5202G>T) c.5488G>T (p.Ala1830Ser) | |
2 | g.21011380C>G | CA346004620 | APOB | c.*4794G>C (n.*4794G>C) c.5202G>C (n.5202G>C) c.5488G>C (p.Ala1830Pro) | |
2 | g.21011380C>T | CA346004621 | APOB | c.*4794G>A (n.*4794G>A) c.5202G>A (n.5202G>A) c.5488G>A (p.Ala1830Thr) | |
2 | g.21011381T>A | CA425346292 | APOB | c.*4793A>T (n.*4793A>T) c.5201A>T (n.5201A>T) c.5487A>T (p.Gly1829=) | |
2 | g.21011381T>C | CA425346293 | APOB | c.*4793A>G (n.*4793A>G) c.5201A>G (n.5201A>G) c.5487A>G (p.Gly1829=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21011381T>G | CA425346294 | APOB | c.*4793A>C (n.*4793A>C) c.5201A>C (n.5201A>C) c.5487A>C (p.Gly1829=) | |
2 | g.21011381T= | CA2493477163 | APOB | c.*4793A= (n.*4793A=) c.5201A= (n.5201A=) c.5487A= (p.Gly1829=) | |
2 | g.21011381_21011382delinsTC | CA2493477164 | APOB | c.*4792_*4793delinsGA (n.*4792_*4793delinsGA) c.5200_5201delinsGA (n.5200_5201delinsGA) c.5486_5487delinsGA (p.Gly1829=) | |
2 | g.21011382C>A | CA346004622 | APOB | c.*4792G>T (n.*4792G>T) c.5200G>T (n.5200G>T) c.5486G>T (p.Gly1829Val) | |
2 | g.21011382C= | CA2493477165 | APOB | c.*4792G= (n.*4792G=) c.5200G= (n.5200G=) c.5486G= (p.Gly1829=) | |
2 | g.21011382C>G | CA346004623 | APOB | c.*4792G>C (n.*4792G>C) c.5200G>C (n.5200G>C) c.5486G>C (p.Gly1829Ala) | |
2 | g.21011382C>T | CA062177 | APOB | c.*4792G>A (n.*4792G>A) c.5200G>A (n.5200G>A) c.5486G>A (p.Gly1829Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.21011383del | CA916488038 | APOB | c.*4792del (n.*4792del) c.5200del (n.5200del) c.5486del (p.Gly1829GlufsTer8) | dbSNP |
2 | g.21011383C>A | CA346004624 | APOB | c.*4791G>T (n.*4791G>T) c.5199G>T (n.5199G>T) c.5485G>T (p.Gly1829Ter) | |
2 | g.21011383C= | CA2493477166 | APOB | c.*4791G= (n.*4791G=) c.5199G= (n.5199G=) c.5485G= (p.Gly1829=) | |
2 | g.21011383C>G | CA346004625 | APOB | c.*4791G>C (n.*4791G>C) c.5199G>C (n.5199G>C) c.5485G>C (p.Gly1829Arg) | |
2 | g.21011383C>T | CA346004626 | APOB | c.*4791G>A (n.*4791G>A) c.5199G>A (n.5199G>A) c.5485G>A (p.Gly1829Arg) | dbSNP |
2 | g.21011384T>A | CA346004628 | APOB | c.*4790A>T (n.*4790A>T) c.5198A>T (n.5198A>T) c.5484A>T (p.Lys1828Asn) | |
2 | g.21011384T>C | CA425346296 | APOB | c.*4790A>G (n.*4790A>G) c.5198A>G (n.5198A>G) c.5484A>G (p.Lys1828=) | |
2 | g.21011384T>G | CA346004627 | APOB | c.*4790A>C (n.*4790A>C) c.5198A>C (n.5198A>C) c.5484A>C (p.Lys1828Asn) | |
2 | g.21011385T>A | CA346004629 | APOB | c.*4789A>T (n.*4789A>T) c.5197A>T (n.5197A>T) c.5483A>T (p.Lys1828Ile) | |
2 | g.21011385T>C | CA346004630 | APOB | c.*4789A>G (n.*4789A>G) c.5197A>G (n.5197A>G) c.5483A>G (p.Lys1828Arg) | |
2 | g.21011385T>G | CA346004631 | APOB | c.*4789A>C (n.*4789A>C) c.5197A>C (n.5197A>C) c.5483A>C (p.Lys1828Thr) | gnomAD v4 |
2 | g.21011386T>A | CA346004632 | APOB | c.*4788A>T (n.*4788A>T) c.5196A>T (n.5196A>T) c.5482A>T (p.Lys1828Ter) | |
2 | g.21011386T>C | CA346004633 | APOB | c.*4788A>G (n.*4788A>G) c.5196A>G (n.5196A>G) c.5482A>G (p.Lys1828Glu) | |
2 | g.21011386T>G | CA346004634 | APOB | c.*4788A>C (n.*4788A>C) c.5196A>C (n.5196A>C) c.5482A>C (p.Lys1828Gln) | |
2 | g.21011387T>A | CA425346299 | APOB | c.*4787A>T (n.*4787A>T) c.5195A>T (n.5195A>T) c.5481A>T (p.Leu1827=) | |
2 | g.21011387T>C | CA425346300 | APOB | c.*4787A>G (n.*4787A>G) c.5195A>G (n.5195A>G) c.5481A>G (p.Leu1827=) | ClinVar dbSNP |
2 | g.21011387T>G | CA425346301 | APOB | c.*4787A>C (n.*4787A>C) c.5195A>C (n.5195A>C) c.5481A>C (p.Leu1827=) | |
2 | g.21011388A>C | CA346004635 | APOB | c.*4786T>G (n.*4786T>G) c.5194T>G (n.5194T>G) c.5480T>G (p.Leu1827Arg) | |
2 | g.21011388A>G | CA346004636 | APOB | c.*4786T>C (n.*4786T>C) c.5194T>C (n.5194T>C) c.5480T>C (p.Leu1827Pro) | |
2 | g.21011388A>T | CA346004637 | APOB | c.*4786T>A (n.*4786T>A) c.5194T>A (n.5194T>A) c.5480T>A (p.Leu1827Gln) | |
2 | g.21011389G>A | CA425346305 | APOB | c.*4785C>T (n.*4785C>T) c.5193C>T (n.5193C>T) c.5479C>T (p.Leu1827=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21011389G>C | CA346004638 | APOB | c.*4785C>G (n.*4785C>G) c.5193C>G (n.5193C>G) c.5479C>G (p.Leu1827Val) | |
2 | g.21011389G= | CA2493477167 | APOB | c.*4785C= (n.*4785C=) c.5193C= (n.5193C=) c.5479C= (p.Leu1827=) | |
2 | g.21011389G>T | CA346004639 | APOB | c.*4785C>A (n.*4785C>A) c.5193C>A (n.5193C>A) c.5479C>A (p.Leu1827Ile) | dbSNP |
2 | g.21011390G>A | CA43506667 | APOB | c.*4784C>T (n.*4784C>T) c.5192C>T (n.5192C>T) c.5478C>T (p.Asn1826=) | dbSNP |
2 | g.21011390G>C | CA346004640 | APOB | c.*4784C>G (n.*4784C>G) c.5192C>G (n.5192C>G) c.5478C>G (p.Asn1826Lys) | ClinVar |
2 | g.21011390G= | CA2493477168 | APOB | c.*4784C= (n.*4784C=) c.5192C= (n.5192C=) c.5478C= (p.Asn1826=) | |
2 | g.21011390G>T | CA346004641 | APOB | c.*4784C>A (n.*4784C>A) c.5192C>A (n.5192C>A) c.5478C>A (p.Asn1826Lys) | |
2 | g.21011391T>A | CA346004643 | APOB | c.*4783A>T (n.*4783A>T) c.5191A>T (n.5191A>T) c.5477A>T (p.Asn1826Ile) | |
2 | g.21011391T>C | CA346004644 | APOB | c.*4783A>G (n.*4783A>G) c.5191A>G (n.5191A>G) c.5477A>G (p.Asn1826Ser) | |
2 | g.21011391T>G | CA346004642 | APOB | c.*4783A>C (n.*4783A>C) c.5191A>C (n.5191A>C) c.5477A>C (p.Asn1826Thr) | dbSNP |
2 | g.21011391T= | CA2493477169 | APOB | c.*4783A= (n.*4783A=) c.5191A= (n.5191A=) c.5477A= (p.Asn1826=) | |
2 | g.21011392T>A | CA346004647 | APOB | c.*4782A>T (n.*4782A>T) c.5190A>T (n.5190A>T) c.5476A>T (p.Asn1826Tyr) | |
2 | g.21011392T>C | CA346004645 | APOB | c.*4782A>G (n.*4782A>G) c.5190A>G (n.5190A>G) c.5476A>G (p.Asn1826Asp) | gnomAD v4 |
2 | g.21011392T>G | CA346004646 | APOB | c.*4782A>C (n.*4782A>C) c.5190A>C (n.5190A>C) c.5476A>C (p.Asn1826His) | |
2 | g.21011393A= | CA2493477170 | APOB | c.*4781T= (n.*4781T=) c.5189T= (n.5189T=) c.5475T= (p.Gly1825=) | |
2 | g.21011393A>C | CA062170 | APOB | c.*4781T>G (n.*4781T>G) c.5189T>G (n.5189T>G) c.5475T>G (p.Gly1825=) | dbSNP ExAC gnomAD v2 |
2 | g.21011393A>G | CA425346310 | APOB | c.*4781T>C (n.*4781T>C) c.5189T>C (n.5189T>C) c.5475T>C (p.Gly1825=) | |
2 | g.21011393A>T | CA425346312 | APOB | c.*4781T>A (n.*4781T>A) c.5189T>A (n.5189T>A) c.5475T>A (p.Gly1825=) | |
2 | g.21011394C>A | CA346004648 | APOB | c.*4780G>T (n.*4780G>T) c.5188G>T (n.5188G>T) c.5474G>T (p.Gly1825Val) | |
2 | g.21011394C>G | CA346004649 | APOB | c.*4780G>C (n.*4780G>C) c.5188G>C (n.5188G>C) c.5474G>C (p.Gly1825Ala) | |
2 | g.21011394C>T | CA346004650 | APOB | c.*4780G>A (n.*4780G>A) c.5188G>A (n.5188G>A) c.5474G>A (p.Gly1825Asp) | |
2 | g.21011395C>A | CA346004651 | APOB | c.*4779G>T (n.*4779G>T) c.5187G>T (n.5187G>T) c.5473G>T (p.Gly1825Cys) | |
2 | g.21011395C>G | CA346004652 | APOB | c.*4779G>C (n.*4779G>C) c.5187G>C (n.5187G>C) c.5473G>C (p.Gly1825Arg) | |
2 | g.21011395C>T | CA346004653 | APOB | c.*4779G>A (n.*4779G>A) c.5187G>A (n.5187G>A) c.5473G>A (p.Gly1825Ser) | |
2 | g.21011396A= | CA2493477171 | APOB | c.*4778T= (n.*4778T=) c.5186T= (n.5186T=) c.5472T= (p.Ala1824=) | |
2 | g.21011396A>C | CA425346322 | APOB | c.*4778T>G (n.*4778T>G) c.5186T>G (n.5186T>G) c.5472T>G (p.Ala1824=) | dbSNP |
2 | g.21011396A>G | CA425346324 | APOB | c.*4778T>C (n.*4778T>C) c.5186T>C (n.5186T>C) c.5472T>C (p.Ala1824=) | |
2 | g.21011396A>T | CA062163 | APOB | c.*4778T>A (n.*4778T>A) c.5186T>A (n.5186T>A) c.5472T>A (p.Ala1824=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21011397G>A | CA346004654 | APOB | c.*4777C>T (n.*4777C>T) c.5185C>T (n.5185C>T) c.5471C>T (p.Ala1824Val) | |
2 | g.21011397G>C | CA346004655 | APOB | c.*4777C>G (n.*4777C>G) c.5185C>G (n.5185C>G) c.5471C>G (p.Ala1824Gly) | |
2 | g.21011397G>T | CA346004656 | APOB | c.*4777C>A (n.*4777C>A) c.5185C>A (n.5185C>A) c.5471C>A (p.Ala1824Asp) | |
2 | g.21011398C>A | CA346004659 | APOB | c.*4776G>T (n.*4776G>T) c.5184G>T (n.5184G>T) c.5470G>T (p.Ala1824Ser) | |
2 | g.21011398C= | CA2493477172 | APOB | c.*4776G= (n.*4776G=) c.5184G= (n.5184G=) c.5470G= (p.Ala1824=) | |
2 | g.21011398C>G | CA346004658 | APOB | c.*4776G>C (n.*4776G>C) c.5184G>C (n.5184G>C) c.5470G>C (p.Ala1824Pro) | |
2 | g.21011398C>T | CA346004657 | APOB | c.*4776G>A (n.*4776G>A) c.5184G>A (n.5184G>A) c.5470G>A (p.Ala1824Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21011399C>A | CA425346326 | APOB | c.*4775G>T (n.*4775G>T) c.5183G>T (n.5183G>T) c.5469G>T (p.Val1823=) | |
2 | g.21011399C>G | CA425346327 | APOB | c.*4775G>C (n.*4775G>C) c.5183G>C (n.5183G>C) c.5469G>C (p.Val1823=) | |
2 | g.21011399C>T | CA425346328 | APOB | c.*4775G>A (n.*4775G>A) c.5183G>A (n.5183G>A) c.5469G>A (p.Val1823=) | |
2 | g.21011400A>C | CA346004660 | APOB | c.*4774T>G (n.*4774T>G) c.5182T>G (n.5182T>G) c.5468T>G (p.Val1823Gly) | |
2 | g.21011400A>G | CA346004661 | APOB | c.*4774T>C (n.*4774T>C) c.5182T>C (n.5182T>C) c.5468T>C (p.Val1823Ala) | |
2 | g.21011400A>T | CA346004662 | APOB | c.*4774T>A (n.*4774T>A) c.5182T>A (n.5182T>A) c.5468T>A (p.Val1823Glu) | |
2 | g.21011401C>A | CA346004663 | APOB | c.*4773G>T (n.*4773G>T) c.5181G>T (n.5181G>T) c.5467G>T (p.Val1823Leu) | |
2 | g.21011401C= | CA2493477173 | APOB | c.*4773G= (n.*4773G=) c.5181G= (n.5181G=) c.5467G= (p.Val1823=) | |
2 | g.21011401C>G | CA346004664 | APOB | c.*4773G>C (n.*4773G>C) c.5181G>C (n.5181G>C) c.5467G>C (p.Val1823Leu) | |
2 | g.21011401C>T | CA43506693 | APOB | c.*4773G>A (n.*4773G>A) c.5181G>A (n.5181G>A) c.5467G>A (p.Val1823Met) | dbSNP |
2 | g.21011402A= | CA2493477174 | APOB | c.*4772T= (n.*4772T=) c.5180T= (n.5180T=) c.5466T= (p.His1822=) | |
2 | g.21011402A>C | CA346004665 | APOB | c.*4772T>G (n.*4772T>G) c.5180T>G (n.5180T>G) c.5466T>G (p.His1822Gln) | |
2 | g.21011402A>G | CA425346330 | APOB | c.*4772T>C (n.*4772T>C) c.5180T>C (n.5180T>C) c.5466T>C (p.His1822=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21011402A>T | CA346004666 | APOB | c.*4772T>A (n.*4772T>A) c.5180T>A (n.5180T>A) c.5466T>A (p.His1822Gln) | |
2 | g.21011403T>A | CA346004667 | APOB | c.*4771A>T (n.*4771A>T) c.5179A>T (n.5179A>T) c.5465A>T (p.His1822Leu) | |
2 | g.21011403T>C | CA346004668 | APOB | c.*4771A>G (n.*4771A>G) c.5179A>G (n.5179A>G) c.5465A>G (p.His1822Arg) | |
2 | g.21011403T>G | CA346004669 | APOB | c.*4771A>C (n.*4771A>C) c.5179A>C (n.5179A>C) c.5465A>C (p.His1822Pro) | |
2 | g.21011404G>A | CA346004670 | APOB | c.*4770C>T (n.*4770C>T) c.5178C>T (n.5178C>T) c.5464C>T (p.His1822Tyr) | |
2 | g.21011404G>C | CA346004671 | APOB | c.*4770C>G (n.*4770C>G) c.5178C>G (n.5178C>G) c.5464C>G (p.His1822Asp) | gnomAD v4 |
2 | g.21011404G>T | CA346004672 | APOB | c.*4770C>A (n.*4770C>A) c.5178C>A (n.5178C>A) c.5464C>A (p.His1822Asn) | |
2 | g.21011404_21011405delinsGC | CA2493477175 | APOB | c.*4769_*4770delinsGC (n.*4769_*4770delinsGC) c.5177_5178delinsGC (n.5177_5178delinsGC) c.5463_5464delinsGC (p.Leu1821=) | |
2 | g.21011405del | CA022858 | APOB | c.*4769del (n.*4769del) c.5177del (n.5177del) c.5463del (p.His1822MetfsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21011405C>A | CA062157 | APOB | c.*4769G>T (n.*4769G>T) c.5177G>T (n.5177G>T) c.5463G>T (p.Leu1821=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21011405C= | CA2493477176 | APOB | c.*4769G= (n.*4769G=) c.5177G= (n.5177G=) c.5463G= (p.Leu1821=) | |
2 | g.21011405C>G | CA425346344 | APOB | c.*4769G>C (n.*4769G>C) c.5177G>C (n.5177G>C) c.5463G>C (p.Leu1821=) | |
2 | g.21011405C>T | CA062152 | APOB | c.*4769G>A (n.*4769G>A) c.5177G>A (n.5177G>A) c.5463G>A (p.Leu1821=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21011406A>C | CA346004673 | APOB | c.*4768T>G (n.*4768T>G) c.5176T>G (n.5176T>G) c.5462T>G (p.Leu1821Arg) | |
2 | g.21011406A>G | CA346004674 | APOB | c.*4768T>C (n.*4768T>C) c.5176T>C (n.5176T>C) c.5462T>C (p.Leu1821Pro) | |
2 | g.21011406A>T | CA346004675 | APOB | c.*4768T>A (n.*4768T>A) c.5176T>A (n.5176T>A) c.5462T>A (p.Leu1821Gln) | |
2 | g.21011407G>A | CA425346350 | APOB | c.*4767C>T (n.*4767C>T) c.5175C>T (n.5175C>T) c.5461C>T (p.Leu1821=) | |
2 | g.21011407G>C | CA346004676 | APOB | c.*4767C>G (n.*4767C>G) c.5175C>G (n.5175C>G) c.5461C>G (p.Leu1821Val) | |
2 | g.21011407G>T | CA346004677 | APOB | c.*4767C>A (n.*4767C>A) c.5175C>A (n.5175C>A) c.5461C>A (p.Leu1821Met) | |
2 | g.21011408C>A | CA346004679 | APOB | c.*4766G>T (n.*4766G>T) c.5174G>T (n.5174G>T) c.5460G>T (p.Lys1820Asn) | |
2 | g.21011408C= | CA2493477177 | APOB | c.*4766G= (n.*4766G=) c.5174G= (n.5174G=) c.5460G= (p.Lys1820=) | |
2 | g.21011408C>G | CA346004678 | APOB | c.*4766G>C (n.*4766G>C) c.5174G>C (n.5174G>C) c.5460G>C (p.Lys1820Asn) | |
2 | g.21011408C>T | CA062145 | APOB | c.*4766G>A (n.*4766G>A) c.5174G>A (n.5174G>A) c.5460G>A (p.Lys1820=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21011409T>A | CA346004680 | APOB | c.*4765A>T (n.*4765A>T) c.5173A>T (n.5173A>T) c.5459A>T (p.Lys1820Met) | |
2 | g.21011409T>C | CA346004681 | APOB | c.*4765A>G (n.*4765A>G) c.5173A>G (n.5173A>G) c.5459A>G (p.Lys1820Arg) | |
2 | g.21011409T>G | CA062136 | APOB | c.*4765A>C (n.*4765A>C) c.5173A>C (n.5173A>C) c.5459A>C (p.Lys1820Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21011409T= | CA2493477178 | APOB | c.*4765A= (n.*4765A=) c.5173A= (n.5173A=) c.5459A= (p.Lys1820=) | |
2 | g.21011410T>A | CA346004682 | APOB | c.*4764A>T (n.*4764A>T) c.5172A>T (n.5172A>T) c.5458A>T (p.Lys1820Ter) | |
2 | g.21011410T>C | CA346004683 | APOB | c.*4764A>G (n.*4764A>G) c.5172A>G (n.5172A>G) c.5458A>G (p.Lys1820Glu) | gnomAD v4 |
2 | g.21011410T>G | CA346004684 | APOB | c.*4764A>C (n.*4764A>C) c.5172A>C (n.5172A>C) c.5458A>C (p.Lys1820Gln) | |
2 | g.21011411C>A | CA425346357 | APOB | c.*4763G>T (n.*4763G>T) c.5171G>T (n.5171G>T) c.5457G>T (p.Leu1819=) | |
2 | g.21011411C>G | CA425346355 | APOB | c.*4763G>C (n.*4763G>C) c.5171G>C (n.5171G>C) c.5457G>C (p.Leu1819=) | |
2 | g.21011411C>T | CA425346356 | APOB | c.*4763G>A (n.*4763G>A) c.5171G>A (n.5171G>A) c.5457G>A (p.Leu1819=) | |
2 | g.21011412A>C | CA346004687 | APOB | c.*4762T>G (n.*4762T>G) c.5170T>G (n.5170T>G) c.5456T>G (p.Leu1819Arg) | |
2 | g.21011412A>G | CA346004685 | APOB | c.*4762T>C (n.*4762T>C) c.5170T>C (n.5170T>C) c.5456T>C (p.Leu1819Pro) | gnomAD v4 |
2 | g.21011412A>T | CA346004686 | APOB | c.*4762T>A (n.*4762T>A) c.5170T>A (n.5170T>A) c.5456T>A (p.Leu1819Gln) |