Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21010666A= | CA2493476796 | APOB | c.6202T= (p.Ser2068=) c.5869+67T= (n.5869+67T=) | |
2 | g.21010666A>C | CA346002328 | APOB | c.6202T>G (p.Ser2068Ala) c.5869+67T>G (n.5869+67T>G) | dbSNP |
2 | g.21010666A>G | CA346002331 | APOB | c.6202T>C (p.Ser2068Pro) c.5869+67T>C (n.5869+67T>C) | |
2 | g.21010666A>T | CA43505602 | APOB | c.6202T>A (p.Ser2068Thr) c.5869+67T>A (n.5869+67T>A) | dbSNP |
2 | g.21010667G>A | CA062973 | APOB | c.6201C>T (p.His2067=) c.5869+66C>T (n.5869+66C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010667G>C | CA346002334 | APOB | c.6201C>G (p.His2067Gln) c.5869+66C>G (n.5869+66C>G) | |
2 | g.21010667G= | CA2493476797 | APOB | c.6201C= (p.His2067=) c.5869+66C= (n.5869+66C=) | |
2 | g.21010667G>T | CA346002336 | APOB | c.6201C>A (p.His2067Gln) c.5869+66C>A (n.5869+66C>A) | |
2 | g.21010668T>A | CA346002338 | APOB | c.6200A>T (p.His2067Leu) c.5869+65A>T (n.5869+65A>T) | |
2 | g.21010668T>C | CA346002340 | APOB | c.6200A>G (p.His2067Arg) c.5869+65A>G (n.5869+65A>G) | |
2 | g.21010668T>G | CA346002342 | APOB | c.6200A>C (p.His2067Pro) c.5869+65A>C (n.5869+65A>C) | |
2 | g.21010669G>A | CA346002343 | APOB | c.6199C>T (p.His2067Tyr) c.5869+64C>T (n.5869+64C>T) | |
2 | g.21010669G>C | CA346002345 | APOB | c.6199C>G (p.His2067Asp) c.5869+64C>G (n.5869+64C>G) | |
2 | g.21010669G>T | CA346002346 | APOB | c.6199C>A (p.His2067Asn) c.5869+64C>A (n.5869+64C>A) | COSMIC |
2 | g.21010670A>C | CA425345880 | APOB | c.6198T>G (p.Val2066=) c.5869+63T>G (n.5869+63T>G) | |
2 | g.21010670A>G | CA425345881 | APOB | c.6198T>C (p.Val2066=) c.5869+63T>C (n.5869+63T>C) | |
2 | g.21010670A>T | CA425345882 | APOB | c.6198T>A (p.Val2066=) c.5869+63T>A (n.5869+63T>A) | |
2 | g.21010671A= | CA2493476798 | APOB | c.6197T= (p.Val2066=) c.5869+62T= (n.5869+62T=) | |
2 | g.21010671A>C | CA346002353 | APOB | c.6197T>G (p.Val2066Gly) c.5869+62T>G (n.5869+62T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010671A>G | CA346002351 | APOB | c.6197T>C (p.Val2066Ala) c.5869+62T>C (n.5869+62T>C) | |
2 | g.21010671A>T | CA346002349 | APOB | c.6197T>A (p.Val2066Asp) c.5869+62T>A (n.5869+62T>A) | |
2 | g.21010672C>A | CA43505610 | APOB | c.6196G>T (p.Val2066Phe) c.5869+61G>T (n.5869+61G>T) | dbSNP |
2 | g.21010672C= | CA2493476799 | APOB | c.6196G= (p.Val2066=) c.5869+61G= (n.5869+61G=) | |
2 | g.21010672C>G | CA346002358 | APOB | c.6196G>C (p.Val2066Leu) c.5869+61G>C (n.5869+61G>C) | |
2 | g.21010672C>T | CA346002356 | APOB | c.6196G>A (p.Val2066Ile) c.5869+61G>A (n.5869+61G>A) | |
2 | g.21010673A>C | CA346002360 | APOB | c.6195T>G (p.Asp2065Glu) c.5869+60T>G (n.5869+60T>G) | |
2 | g.21010673A>G | CA425345883 | APOB | c.6195T>C (p.Asp2065=) c.5869+60T>C (n.5869+60T>C) | |
2 | g.21010673A>T | CA346002362 | APOB | c.6195T>A (p.Asp2065Glu) c.5869+60T>A (n.5869+60T>A) | |
2 | g.21010674T>A | CA346002364 | APOB | c.6194A>T (p.Asp2065Val) c.5869+59A>T (n.5869+59A>T) | gnomAD v4 |
2 | g.21010674T>C | CA062966 | APOB | c.6194A>G (p.Asp2065Gly) c.5869+59A>G (n.5869+59A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010674T>G | CA346002367 | APOB | c.6194A>C (p.Asp2065Ala) c.5869+59A>C (n.5869+59A>C) | |
2 | g.21010674T= | CA2493476800 | APOB | c.6194A= (p.Asp2065=) c.5869+59A= (n.5869+59A=) | |
2 | g.21010675C>A | CA346002369 | APOB | c.6193G>T (p.Asp2065Tyr) c.5869+58G>T (n.5869+58G>T) | gnomAD v4 |
2 | g.21010675C>G | CA346002371 | APOB | c.6193G>C (p.Asp2065His) c.5869+58G>C (n.5869+58G>C) | |
2 | g.21010675C>T | CA346002373 | APOB | c.6193G>A (p.Asp2065Asn) c.5869+58G>A (n.5869+58G>A) | |
2 | g.21010676T>A | CA346002375 | APOB | c.6192A>T (p.Gln2064His) c.5869+57A>T (n.5869+57A>T) | |
2 | g.21010676T>C | CA425345884 | APOB | c.6192A>G (p.Gln2064=) c.5869+57A>G (n.5869+57A>G) | |
2 | g.21010676T>G | CA346002377 | APOB | c.6192A>C (p.Gln2064His) c.5869+57A>C (n.5869+57A>C) | |
2 | g.21010677T>A | CA346002379 | APOB | c.6191A>T (p.Gln2064Leu) c.5869+56A>T (n.5869+56A>T) | |
2 | g.21010677T>C | CA346002381 | APOB | c.6191A>G (p.Gln2064Arg) c.5869+56A>G (n.5869+56A>G) | |
2 | g.21010677T>G | CA346002383 | APOB | c.6191A>C (p.Gln2064Pro) c.5869+56A>C (n.5869+56A>C) | dbSNP gnomAD v2 |
2 | g.21010677T= | CA2493476801 | APOB | c.6191A= (p.Gln2064=) c.5869+56A= (n.5869+56A=) | |
2 | g.21010678G>A | CA346002386 | APOB | c.6190C>T (p.Gln2064Ter) c.5869+55C>T (n.5869+55C>T) | gnomAD v4 |
2 | g.21010678G>C | CA346002390 | APOB | c.6190C>G (p.Gln2064Glu) c.5869+55C>G (n.5869+55C>G) | |
2 | g.21010678G= | CA2493476802 | APOB | c.6190C= (p.Gln2064=) c.5869+55C= (n.5869+55C=) | |
2 | g.21010678G>T | CA346002388 | APOB | c.6190C>A (p.Gln2064Lys) c.5869+55C>A (n.5869+55C>A) | dbSNP |
2 | g.21010679G>A | CA425345886 | APOB | c.6189C>T (p.Asn2063=) c.5869+54C>T (n.5869+54C>T) | gnomAD v4 |
2 | g.21010679G>C | CA346002391 | APOB | c.6189C>G (p.Asn2063Lys) c.5869+54C>G (n.5869+54C>G) | |
2 | g.21010679G>T | CA346002393 | APOB | c.6189C>A (p.Asn2063Lys) c.5869+54C>A (n.5869+54C>A) | |
2 | g.21010680T>A | CA346002395 | APOB | c.6188A>T (p.Asn2063Ile) c.5869+53A>T (n.5869+53A>T) | |
2 | g.21010680T>C | CA346002397 | APOB | c.6188A>G (p.Asn2063Ser) c.5869+53A>G (n.5869+53A>G) | |
2 | g.21010680T>G | CA346002399 | APOB | c.6188A>C (p.Asn2063Thr) c.5869+53A>C (n.5869+53A>C) | |
2 | g.21010681T>A | CA346002402 | APOB | c.6187A>T (p.Asn2063Tyr) c.5869+52A>T (n.5869+52A>T) | |
2 | g.21010681T>C | CA346002403 | APOB | c.6187A>G (p.Asn2063Asp) c.5869+52A>G (n.5869+52A>G) | |
2 | g.21010681T>G | CA346002405 | APOB | c.6187A>C (p.Asn2063His) c.5869+52A>C (n.5869+52A>C) | |
2 | g.21010682T>A | CA346002408 | APOB | c.6186A>T (p.Lys2062Asn) c.5869+51A>T (n.5869+51A>T) | |
2 | g.21010682T>C | CA425345887 | APOB | c.6186A>G (p.Lys2062=) c.5869+51A>G (n.5869+51A>G) | |
2 | g.21010682T>G | CA346002409 | APOB | c.6186A>C (p.Lys2062Asn) c.5869+51A>C (n.5869+51A>C) | |
2 | g.21010683T>A | CA346002415 | APOB | c.6185A>T (p.Lys2062Ile) c.5869+50A>T (n.5869+50A>T) | |
2 | g.21010683T>C | CA346002413 | APOB | c.6185A>G (p.Lys2062Arg) c.5869+50A>G (n.5869+50A>G) | gnomAD v4 |
2 | g.21010683T>G | CA346002412 | APOB | c.6185A>C (p.Lys2062Thr) c.5869+50A>C (n.5869+50A>C) | |
2 | g.21010684T>A | CA346002417 | APOB | c.6184A>T (p.Lys2062Ter) c.5869+49A>T (n.5869+49A>T) | |
2 | g.21010684T>C | CA346002419 | APOB | c.6184A>G (p.Lys2062Glu) c.5869+49A>G (n.5869+49A>G) | |
2 | g.21010684T>G | CA346002421 | APOB | c.6184A>C (p.Lys2062Gln) c.5869+49A>C (n.5869+49A>C) | |
2 | g.21010685A>C | CA346002423 | APOB | c.6183T>G (p.Asp2061Glu) c.5869+48T>G (n.5869+48T>G) | |
2 | g.21010685A>G | CA425345889 | APOB | c.6183T>C (p.Asp2061=) c.5869+48T>C (n.5869+48T>C) | gnomAD v4 |
2 | g.21010685A>T | CA346002425 | APOB | c.6183T>A (p.Asp2061Glu) c.5869+48T>A (n.5869+48T>A) | |
2 | g.21010686T>A | CA346002427 | APOB | c.6182A>T (p.Asp2061Val) c.5869+47A>T (n.5869+47A>T) | |
2 | g.21010686T>C | CA346002429 | APOB | c.6182A>G (p.Asp2061Gly) c.5869+47A>G (n.5869+47A>G) | |
2 | g.21010686T>G | CA346002431 | APOB | c.6182A>C (p.Asp2061Ala) c.5869+47A>C (n.5869+47A>C) | |
2 | g.21010687C>A | CA346002432 | APOB | c.6181G>T (p.Asp2061Tyr) c.5869+46G>T (n.5869+46G>T) | |
2 | g.21010687C>G | CA346002433 | APOB | c.6181G>C (p.Asp2061His) c.5869+46G>C (n.5869+46G>C) | |
2 | g.21010687C>T | CA346002434 | APOB | c.6181G>A (p.Asp2061Asn) c.5869+46G>A (n.5869+46G>A) | COSMIC |
2 | g.21010688A>C | CA346002435 | APOB | c.6180T>G (p.Tyr2060Ter) c.5869+45T>G (n.5869+45T>G) | |
2 | g.21010688A>G | CA425345891 | APOB | c.6180T>C (p.Tyr2060=) c.5869+45T>C (n.5869+45T>C) | |
2 | g.21010688A>T | CA346002436 | APOB | c.6180T>A (p.Tyr2060Ter) c.5869+45T>A (n.5869+45T>A) | |
2 | g.21010689T>A | CA346002438 | APOB | c.6179A>T (p.Tyr2060Phe) c.5869+44A>T (n.5869+44A>T) | |
2 | g.21010689T>C | CA062961 | APOB | c.6179A>G (p.Tyr2060Cys) c.5869+44A>G (n.5869+44A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010689T>G | CA346002437 | APOB | c.6179A>C (p.Tyr2060Ser) c.5869+44A>C (n.5869+44A>C) | |
2 | g.21010689T= | CA2493476803 | APOB | c.6179A= (p.Tyr2060=) c.5869+44A= (n.5869+44A=) | |
2 | g.21010690A= | CA2493476804 | APOB | c.6178T= (p.Tyr2060=) c.5869+43T= (n.5869+43T=) | |
2 | g.21010690A>C | CA346002439 | APOB | c.6178T>G (p.Tyr2060Asp) c.5869+43T>G (n.5869+43T>G) | |
2 | g.21010690A>G | CA346002440 | APOB | c.6178T>C (p.Tyr2060His) c.5869+43T>C (n.5869+43T>C) | dbSNP gnomAD v4 |
2 | g.21010690A>T | CA346002441 | APOB | c.6178T>A (p.Tyr2060Asn) c.5869+43T>A (n.5869+43T>A) | |
2 | g.21010691C>A | CA346002442 | APOB | c.6177G>T (p.Lys2059Asn) c.5869+42G>T (n.5869+42G>T) | |
2 | g.21010691C= | CA2493476805 | APOB | c.6177G= (p.Lys2059=) c.5869+42G= (n.5869+42G=) | |
2 | g.21010691C>G | CA346002443 | APOB | c.6177G>C (p.Lys2059Asn) c.5869+42G>C (n.5869+42G>C) | gnomAD v4 |
2 | g.21010691C>T | CA425345916 | APOB | c.6177G>A (p.Lys2059=) c.5869+42G>A (n.5869+42G>A) | dbSNP gnomAD v4 |
2 | g.21010692T>A | CA346002444 | APOB | c.6176A>T (p.Lys2059Met) c.5869+41A>T (n.5869+41A>T) | |
2 | g.21010692T>C | CA346002445 | APOB | c.6176A>G (p.Lys2059Arg) c.5869+41A>G (n.5869+41A>G) | gnomAD v4 |
2 | g.21010692T>G | CA346002446 | APOB | c.6176A>C (p.Lys2059Thr) c.5869+41A>C (n.5869+41A>C) | |
2 | g.21010693T>A | CA346002447 | APOB | c.6175A>T (p.Lys2059Ter) c.5869+40A>T (n.5869+40A>T) | |
2 | g.21010693T>C | CA346002448 | APOB | c.6175A>G (p.Lys2059Glu) c.5869+40A>G (n.5869+40A>G) | |
2 | g.21010693T>G | CA346002449 | APOB | c.6175A>C (p.Lys2059Gln) c.5869+40A>C (n.5869+40A>C) | |
2 | g.21010694T>A | CA425345919 | APOB | c.6174A>T (p.Val2058=) c.5869+39A>T (n.5869+39A>T) | |
2 | g.21010694T>C | CA425345920 | APOB | c.6174A>G (p.Val2058=) c.5869+39A>G (n.5869+39A>G) | |
2 | g.21010694T>G | CA425345922 | APOB | c.6174A>C (p.Val2058=) c.5869+39A>C (n.5869+39A>C) | |
2 | g.21010695A>C | CA346002452 | APOB | c.6173T>G (p.Val2058Gly) c.5869+38T>G (n.5869+38T>G) | |
2 | g.21010695A>G | CA346002451 | APOB | c.6173T>C (p.Val2058Ala) c.5869+38T>C (n.5869+38T>C) | gnomAD v4 |
2 | g.21010695A>T | CA346002450 | APOB | c.6173T>A (p.Val2058Glu) c.5869+38T>A (n.5869+38T>A) | |
2 | g.21010696C>A | CA346002453 | APOB | c.6172G>T (p.Val2058Leu) c.5869+37G>T (n.5869+37G>T) | |
2 | g.21010696C= | CA2493476806 | APOB | c.6172G= (p.Val2058=) c.5869+37G= (n.5869+37G=) | |
2 | g.21010696C>G | CA346002455 | APOB | c.6172G>C (p.Val2058Leu) c.5869+37G>C (n.5869+37G>C) | |
2 | g.21010696C>T | CA346002454 | APOB | c.6172G>A (p.Val2058Ile) c.5869+37G>A (n.5869+37G>A) | dbSNP gnomAD v4 |
2 | g.21010697A>C | CA346002456 | APOB | c.6171T>G (p.Phe2057Leu) c.5869+36T>G (n.5869+36T>G) | |
2 | g.21010697A>G | CA425345923 | APOB | c.6171T>C (p.Phe2057=) c.5869+36T>C (n.5869+36T>C) | |
2 | g.21010697A>T | CA346002457 | APOB | c.6171T>A (p.Phe2057Leu) c.5869+36T>A (n.5869+36T>A) | |
2 | g.21010698A>C | CA346002458 | APOB | c.6170T>G (p.Phe2057Cys) c.5869+35T>G (n.5869+35T>G) | COSMIC |
2 | g.21010698A>G | CA346002459 | APOB | c.6170T>C (p.Phe2057Ser) c.5869+35T>C (n.5869+35T>C) | |
2 | g.21010698A>T | CA346002460 | APOB | c.6170T>A (p.Phe2057Tyr) c.5869+35T>A (n.5869+35T>A) | |
2 | g.21010699A>C | CA346002461 | APOB | c.6169T>G (p.Phe2057Val) c.5869+34T>G (n.5869+34T>G) | |
2 | g.21010699A>G | CA346002462 | APOB | c.6169T>C (p.Phe2057Leu) c.5869+34T>C (n.5869+34T>C) | |
2 | g.21010699A>T | CA346002463 | APOB | c.6169T>A (p.Phe2057Ile) c.5869+34T>A (n.5869+34T>A) | |
2 | g.21010700A>C | CA425345929 | APOB | c.6168T>G (p.Ala2056=) c.5869+33T>G (n.5869+33T>G) | |
2 | g.21010700A>G | CA425345930 | APOB | c.6168T>C (p.Ala2056=) c.5869+33T>C (n.5869+33T>C) | |
2 | g.21010700A>T | CA425345931 | APOB | c.6168T>A (p.Ala2056=) c.5869+33T>A (n.5869+33T>A) | |
2 | g.21010701G>A | CA346002464 | APOB | c.6167C>T (p.Ala2056Val) c.5869+32C>T (n.5869+32C>T) | |
2 | g.21010701G>C | CA346002465 | APOB | c.6167C>G (p.Ala2056Gly) c.5869+32C>G (n.5869+32C>G) | |
2 | g.21010701G>T | CA346002466 | APOB | c.6167C>A (p.Ala2056Asp) c.5869+32C>A (n.5869+32C>A) | |
2 | g.21010702C>A | CA346002467 | APOB | c.6166G>T (p.Ala2056Ser) c.5869+31G>T (n.5869+31G>T) | dbSNP gnomAD v4 |
2 | g.21010702C= | CA2493476807 | APOB | c.6166G= (p.Ala2056=) c.5869+31G= (n.5869+31G=) | |
2 | g.21010702C>G | CA346002468 | APOB | c.6166G>C (p.Ala2056Pro) c.5869+31G>C (n.5869+31G>C) | |
2 | g.21010702C>T | CA062957 | APOB | c.6166G>A (p.Ala2056Thr) c.5869+31G>A (n.5869+31G>A) | dbSNP ExAC gnomAD v4 |
2 | g.21010703A>C | CA425345936 | APOB | c.6165T>G (p.Val2055=) c.5869+30T>G (n.5869+30T>G) | ClinVar dbSNP gnomAD v4 |
2 | g.21010703A>G | CA425345937 | APOB | c.6165T>C (p.Val2055=) c.5869+30T>C (n.5869+30T>C) | |
2 | g.21010703A>T | CA425345939 | APOB | c.6165T>A (p.Val2055=) c.5869+30T>A (n.5869+30T>A) | |
2 | g.21010704dup | CA645539130 | APOB | c.6165dup (p.Ala2056CysfsTer6) c.5869+30dup (n.5869+30dup) | COSMIC |
2 | g.21010704A>C | CA346002471 | APOB | c.6164T>G (p.Val2055Gly) c.5869+29T>G (n.5869+29T>G) | |
2 | g.21010704A>G | CA346002469 | APOB | c.6164T>C (p.Val2055Ala) c.5869+29T>C (n.5869+29T>C) | |
2 | g.21010704A>T | CA346002470 | APOB | c.6164T>A (p.Val2055Asp) c.5869+29T>A (n.5869+29T>A) | |
2 | g.21010705C>A | CA346002472 | APOB | c.6163G>T (p.Val2055Phe) c.5869+28G>T (n.5869+28G>T) | |
2 | g.21010705C>G | CA346002473 | APOB | c.6163G>C (p.Val2055Leu) c.5869+28G>C (n.5869+28G>C) | |
2 | g.21010705C>T | CA346002474 | APOB | c.6163G>A (p.Val2055Ile) c.5869+28G>A (n.5869+28G>A) | |
2 | g.21010706A>C | CA346002475 | APOB | c.6162T>G (p.Ile2054Met) c.5869+27T>G (n.5869+27T>G) | |
2 | g.21010706A>G | CA425345945 | APOB | c.6162T>C (p.Ile2054=) c.5869+27T>C (n.5869+27T>C) | |
2 | g.21010706A>T | CA425345944 | APOB | c.6162T>A (p.Ile2054=) c.5869+27T>A (n.5869+27T>A) | |
2 | g.21010707A= | CA2493476808 | APOB | c.6161T= (p.Ile2054=) c.5869+26T= (n.5869+26T=) | |
2 | g.21010707A>C | CA43505641 | APOB | c.6161T>G (p.Ile2054Ser) c.5869+26T>G (n.5869+26T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010707A>G | CA346002476 | APOB | c.6161T>C (p.Ile2054Thr) c.5869+26T>C (n.5869+26T>C) | dbSNP gnomAD v4 |
2 | g.21010707A>T | CA43505642 | APOB | c.6161T>A (p.Ile2054Asn) c.5869+26T>A (n.5869+26T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010708T>A | CA346002477 | APOB | c.6160A>T (p.Ile2054Phe) c.5869+25A>T (n.5869+25A>T) | |
2 | g.21010708T>C | CA346002478 | APOB | c.6160A>G (p.Ile2054Val) c.5869+25A>G (n.5869+25A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010708T>G | CA43505643 | APOB | c.6160A>C (p.Ile2054Leu) c.5869+25A>C (n.5869+25A>C) | dbSNP |
2 | g.21010708T= | CA2493476809 | APOB | c.6160A= (p.Ile2054=) c.5869+25A= (n.5869+25A=) | |
2 | g.21010709T>A | CA425345950 | APOB | c.6159A>T (p.Thr2053=) c.5869+24A>T (n.5869+24A>T) | |
2 | g.21010709T>C | CA425345951 | APOB | c.6159A>G (p.Thr2053=) c.5869+24A>G (n.5869+24A>G) | |
2 | g.21010709T>G | CA425345952 | APOB | c.6159A>C (p.Thr2053=) c.5869+24A>C (n.5869+24A>C) | |
2 | g.21010710G>A | CA346002481 | APOB | c.6158C>T (p.Thr2053Ile) c.5869+23C>T (n.5869+23C>T) | |
2 | g.21010710G>C | CA346002480 | APOB | c.6158C>G (p.Thr2053Arg) c.5869+23C>G (n.5869+23C>G) | |
2 | g.21010710G= | CA2493476810 | APOB | c.6158C= (p.Thr2053=) c.5869+23C= (n.5869+23C=) | |
2 | g.21010710G>T | CA346002479 | APOB | c.6158C>A (p.Thr2053Lys) c.5869+23C>A (n.5869+23C>A) | dbSNP |
2 | g.21010711T>A | CA346002482 | APOB | c.6157A>T (p.Thr2053Ser) c.5869+22A>T (n.5869+22A>T) | |
2 | g.21010711T>C | CA346002483 | APOB | c.6157A>G (p.Thr2053Ala) c.5869+22A>G (n.5869+22A>G) | |
2 | g.21010711T>G | CA346002484 | APOB | c.6157A>C (p.Thr2053Pro) c.5869+22A>C (n.5869+22A>C) | |
2 | g.21010712A>C | CA346002485 | APOB | c.6156T>G (p.Phe2052Leu) c.5869+21T>G (n.5869+21T>G) | |
2 | g.21010712A>G | CA425345957 | APOB | c.6156T>C (p.Phe2052=) c.5869+21T>C (n.5869+21T>C) | gnomAD v4 |
2 | g.21010712A>T | CA346002486 | APOB | c.6156T>A (p.Phe2052Leu) c.5869+21T>A (n.5869+21T>A) | |
2 | g.21010713A>C | CA346002487 | APOB | c.6155T>G (p.Phe2052Cys) c.5869+20T>G (n.5869+20T>G) | |
2 | g.21010713A>G | CA346002488 | APOB | c.6155T>C (p.Phe2052Ser) c.5869+20T>C (n.5869+20T>C) | |
2 | g.21010713A>T | CA346002489 | APOB | c.6155T>A (p.Phe2052Tyr) c.5869+20T>A (n.5869+20T>A) | |
2 | g.21010714A>C | CA346002490 | APOB | c.6154T>G (p.Phe2052Val) c.5869+19T>G (n.5869+19T>G) | |
2 | g.21010714A>G | CA346002491 | APOB | c.6154T>C (p.Phe2052Leu) c.5869+19T>C (n.5869+19T>C) | |
2 | g.21010714A>T | CA346002492 | APOB | c.6154T>A (p.Phe2052Ile) c.5869+19T>A (n.5869+19T>A) | |
2 | g.21010715T>A | CA346002493 | APOB | c.6153A>T (p.Glu2051Asp) c.5869+18A>T (n.5869+18A>T) | |
2 | g.21010715T>C | CA425345962 | APOB | c.6153A>G (p.Glu2051=) c.5869+18A>G (n.5869+18A>G) | |
2 | g.21010715T>G | CA346002494 | APOB | c.6153A>C (p.Glu2051Asp) c.5869+18A>C (n.5869+18A>C) | |
2 | g.21010716T>A | CA346002495 | APOB | c.6152A>T (p.Glu2051Val) c.5869+17A>T (n.5869+17A>T) | |
2 | g.21010716T>C | CA346002497 | APOB | c.6152A>G (p.Glu2051Gly) c.5869+17A>G (n.5869+17A>G) | |
2 | g.21010716T>G | CA346002496 | APOB | c.6152A>C (p.Glu2051Ala) c.5869+17A>C (n.5869+17A>C) | |
2 | g.21010717C>A | CA346002498 | APOB | c.6151G>T (p.Glu2051Ter) c.5869+16G>T (n.5869+16G>T) | |
2 | g.21010717C= | CA2493476811 | APOB | c.6151G= (p.Glu2051=) c.5869+16G= (n.5869+16G=) | |
2 | g.21010717C>G | CA43505650 | APOB | c.6151G>C (p.Glu2051Gln) c.5869+16G>C (n.5869+16G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010717C>T | CA062947 | APOB | c.6151G>A (p.Glu2051Lys) c.5869+16G>A (n.5869+16G>A) | dbSNP ExAC gnomAD v2 |
2 | g.21010718T>A | CA346002499 | APOB | c.6150A>T (p.Gln2050His) c.5869+15A>T (n.5869+15A>T) | |
2 | g.21010718T>C | CA425345968 | APOB | c.6150A>G (p.Gln2050=) c.5869+15A>G (n.5869+15A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010718T>G | CA346002500 | APOB | c.6150A>C (p.Gln2050His) c.5869+15A>C (n.5869+15A>C) | |
2 | g.21010718T= | CA2493476812 | APOB | c.6150A= (p.Gln2050=) c.5869+15A= (n.5869+15A=) | |
2 | g.21010719T>A | CA346002501 | APOB | c.6149A>T (p.Gln2050Leu) c.5869+14A>T (n.5869+14A>T) | |
2 | g.21010719T>C | CA346002502 | APOB | c.6149A>G (p.Gln2050Arg) c.5869+14A>G (n.5869+14A>G) | |
2 | g.21010719T>G | CA346002503 | APOB | c.6149A>C (p.Gln2050Pro) c.5869+14A>C (n.5869+14A>C) | |
2 | g.21010720G>A | CA346002504 | APOB | c.6148C>T (p.Gln2050Ter) c.5869+13C>T (n.5869+13C>T) | dbSNP |
2 | g.21010720G>C | CA346002505 | APOB | c.6148C>G (p.Gln2050Glu) c.5869+13C>G (n.5869+13C>G) | |
2 | g.21010720G= | CA2493476813 | APOB | c.6148C= (p.Gln2050=) c.5869+13C= (n.5869+13C=) | |
2 | g.21010720G>T | CA346002506 | APOB | c.6148C>A (p.Gln2050Lys) c.5869+13C>A (n.5869+13C>A) | |
2 | g.21010721G>A | CA425345970 | APOB | c.6147C>T (p.Pro2049=) c.5869+12C>T (n.5869+12C>T) | |
2 | g.21010721G>C | CA425345971 | APOB | c.6147C>G (p.Pro2049=) c.5869+12C>G (n.5869+12C>G) | |
2 | g.21010721G>T | CA425345972 | APOB | c.6147C>A (p.Pro2049=) c.5869+12C>A (n.5869+12C>A) | gnomAD v4 |
2 | g.21010722G>A | CA346002508 | APOB | c.6146C>T (p.Pro2049Leu) c.5869+11C>T (n.5869+11C>T) | |
2 | g.21010722G>C | CA346002509 | APOB | c.6146C>G (p.Pro2049Arg) c.5869+11C>G (n.5869+11C>G) | |
2 | g.21010722G>T | CA346002507 | APOB | c.6146C>A (p.Pro2049His) c.5869+11C>A (n.5869+11C>A) | |
2 | g.21010723G>A | CA346002512 | APOB | c.6145C>T (p.Pro2049Ser) c.5869+10C>T (n.5869+10C>T) | |
2 | g.21010723G>C | CA346002510 | APOB | c.6145C>G (p.Pro2049Ala) c.5869+10C>G (n.5869+10C>G) | |
2 | g.21010723G>T | CA346002511 | APOB | c.6145C>A (p.Pro2049Thr) c.5869+10C>A (n.5869+10C>A) | |
2 | g.21010724C>A | CA346002513 | APOB | c.6144G>T (p.Lys2048Asn) c.5869+9G>T (n.5869+9G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010724C= | CA2493476814 | APOB | c.6144G= (p.Lys2048=) c.5869+9G= (n.5869+9G=) | |
2 | g.21010724C>G | CA346002514 | APOB | c.6144G>C (p.Lys2048Asn) c.5869+9G>C (n.5869+9G>C) | |
2 | g.21010724C>T | CA062943 | APOB | c.6144G>A (p.Lys2048=) c.5869+9G>A (n.5869+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010725T>A | CA346002515 | APOB | c.6143A>T (p.Lys2048Met) c.5869+8A>T (n.5869+8A>T) | |
2 | g.21010725T>C | CA346002516 | APOB | c.6143A>G (p.Lys2048Arg) c.5869+8A>G (n.5869+8A>G) | |
2 | g.21010725T>G | CA346002517 | APOB | c.6143A>C (p.Lys2048Thr) c.5869+8A>C (n.5869+8A>C) | |
2 | g.21010726del | CA2576686518 | APOB | c.6143del (p.Lys2048SerfsTer11) c.5869+8del (n.5869+8del) | |
2 | g.21010725_21010736delinsTTCTCAACGGCA | CA2493476815 | APOB | c.6132_6143delinsTGCCGTTGAGAA (p.Asp2044=) c.5866_5869+8delinsTGCCGTTGAGAA | |
2 | g.21010726T>A | CA346002518 | APOB | c.6142A>T (p.Lys2048Ter) c.5869+7A>T (n.5869+7A>T) | |
2 | g.21010726T>C | CA346002519 | APOB | c.6142A>G (p.Lys2048Glu) c.5869+7A>G (n.5869+7A>G) | |
2 | g.21010726T>G | CA346002520 | APOB | c.6142A>C (p.Lys2048Gln) c.5869+7A>C (n.5869+7A>C) | |
2 | g.21010730_21010740del | CA764120380 | APOB | c.6132_6142del (p.Asp2044GlufsTer14) c.5866_5869+7del | dbSNP |
2 | g.21010727C>A | CA346002522 | APOB | c.6141G>T (p.Glu2047Asp) c.5869+6G>T (n.5869+6G>T) | |
2 | g.21010727C= | CA2493476816 | APOB | c.6141G= (p.Glu2047=) c.5869+6G= (n.5869+6G=) | |
2 | g.21010727C>G | CA346002521 | APOB | c.6141G>C (p.Glu2047Asp) c.5869+6G>C (n.5869+6G>C) | |
2 | g.21010727C>T | CA43505673 | APOB | c.6141G>A (p.Glu2047=) c.5869+6G>A (n.5869+6G>A) | dbSNP |
2 | g.21010728T>A | CA346002523 | APOB | c.6140A>T (p.Glu2047Val) c.5869+5A>T (n.5869+5A>T) | |
2 | g.21010728T>C | CA062937 | APOB | c.6140A>G (p.Glu2047Gly) c.5869+5A>G (n.5869+5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010728T>G | CA346002524 | APOB | c.6140A>C (p.Glu2047Ala) c.5869+5A>C (n.5869+5A>C) | |
2 | g.21010728T= | CA2493476817 | APOB | c.6140A= (p.Glu2047=) c.5869+5A= (n.5869+5A=) | |
2 | g.21010729C>A | CA346002525 | APOB | c.6139G>T (p.Glu2047Ter) c.5869+4G>T (n.5869+4G>T) | |
2 | g.21010729C>G | CA346002526 | APOB | c.6139G>C (p.Glu2047Gln) c.5869+4G>C (n.5869+4G>C) | |
2 | g.21010729C>T | CA346002527 | APOB | c.6139G>A (p.Glu2047Lys) c.5869+4G>A (n.5869+4G>A) | |
2 | g.21010730A>C | CA425345985 | APOB | c.6138T>G (p.Val2046=) c.5869+3T>G (n.5869+3T>G) | |
2 | g.21010730A>G | CA425345984 | APOB | c.6138T>C (p.Val2046=) c.5869+3T>C (n.5869+3T>C) | |
2 | g.21010730A>T | CA425345983 | APOB | c.6138T>A (p.Val2046=) c.5869+3T>A (n.5869+3T>A) | |
2 | g.21010731A>C | CA346002528 | APOB | c.6137T>G (p.Val2046Gly) c.5869+2T>G (n.5869+2T>G) | |
2 | g.21010731A>G | CA346002529 | APOB | c.6137T>C (p.Val2046Ala) c.5869+2T>C (n.5869+2T>C) | |
2 | g.21010731A>T | CA346002530 | APOB | c.6137T>A (p.Val2046Asp) c.5869+2T>A (n.5869+2T>A) | |
2 | g.21010732C>A | CA346002531 | APOB | c.6136G>T (p.Val2046Phe) c.5869+1G>T (n.5869+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010732C= | CA2493476818 | APOB | c.6136G= (p.Val2046=) c.5869+1G= (n.5869+1G=) | |
2 | g.21010732C>G | CA43505678 | APOB | c.6136G>C (p.Val2046Leu) c.5869+1G>C (n.5869+1G>C) | dbSNP gnomAD v4 |
2 | g.21010732C>T | CA062933 | APOB | c.6136G>A (p.Val2046Ile) c.5869+1G>A (n.5869+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21010733G>A | CA062926 | APOB | c.6135C>T (p.Ala2045=) c.5869C>T (p.Arg1957Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.21010733G>C | CA425345989 | APOB | c.6135C>G (p.Ala2045=) c.5869C>G (p.Arg1957Gly) | |
2 | g.21010733G= | CA2493476819 | APOB | c.6135C= (p.Ala2045=) c.5869C= (p.Arg1957=) | |
2 | g.21010733G>T | CA425345987 | APOB | c.6135C>A (p.Ala2045=) c.5869C>A (p.Arg1957Ser) | |
2 | g.21010734G>A | CA062922 | APOB | c.6134C>T (p.Ala2045Val) c.5868C>T (p.Cys1956=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.21010734G>C | CA346002533 | APOB | c.6134C>G (p.Ala2045Gly) c.5868C>G (p.Cys1956Trp) | |
2 | g.21010734G= | CA2493476820 | APOB | c.6134C= (p.Ala2045=) c.5868C= (p.Cys1956=) | |
2 | g.21010734G>T | CA346002532 | APOB | c.6134C>A (p.Ala2045Asp) c.5868C>A (p.Cys1956Ter) | |
2 | g.21010735C>A | CA346002534 | APOB | c.6133G>T (p.Ala2045Ser) c.5867G>T (p.Cys1956Phe) | |
2 | g.21010735C= | CA2493476821 | APOB | c.6133G= (p.Ala2045=) c.5867G= (p.Cys1956=) | |
2 | g.21010735C>G | CA346002536 | APOB | c.6133G>C (p.Ala2045Pro) c.5867G>C (p.Cys1956Ser) | |
2 | g.21010735C>T | CA346002538 | APOB | c.6133G>A (p.Ala2045Thr) c.5867G>A (p.Cys1956Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010736A= | CA2493476822 | APOB | c.6132T= (p.Asp2044=) c.5866T= (p.Cys1956=) | |
2 | g.21010736A>C | CA346002544 | APOB | c.6132T>G (p.Asp2044Glu) c.5866T>G (p.Cys1956Gly) | |
2 | g.21010736A>G | CA425345990 | APOB | c.6132T>C (p.Asp2044=) c.5866T>C (p.Cys1956Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010736A>T | CA346002546 | APOB | c.6132T>A (p.Asp2044Glu) c.5866T>A (p.Cys1956Ser) | |
2 | g.21010737T>A | CA346002547 | APOB | c.6131A>T (p.Asp2044Val) c.5865A>T (p.Val1955=) | |
2 | g.21010737T>C | CA346002548 | APOB | c.6131A>G (p.Asp2044Gly) c.5865A>G (p.Val1955=) | dbSNP gnomAD v4 |
2 | g.21010737T>G | CA346002550 | APOB | c.6131A>C (p.Asp2044Ala) c.5865A>C (p.Val1955=) | |
2 | g.21010737T= | CA2493476823 | APOB | c.6131A= (p.Asp2044=) c.5865A= (p.Val1955=) | |
2 | g.21010738C>A | CA346002553 | APOB | c.6130G>T (p.Asp2044Tyr) c.5865-1G>T (n.5865-1G>T) | |
2 | g.21010738C= | CA2493476824 | APOB | c.6130G= (p.Asp2044=) c.5865-1G= (n.5865-1G=) | |
2 | g.21010738C>G | CA346002555 | APOB | c.6130G>C (p.Asp2044His) c.5865-1G>C (n.5865-1G>C) | |
2 | g.21010738C>T | CA346002557 | APOB | c.6130G>A (p.Asp2044Asn) c.5865-1G>A (n.5865-1G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.21010739T>A | CA346002559 | APOB | c.6129A>T (p.Arg2043Ser) c.5865-2A>T (n.5865-2A>T) | |
2 | g.21010739T>C | CA425345993 | APOB | c.6129A>G (p.Arg2043=) c.5865-2A>G (n.5865-2A>G) | ClinVar |
2 | g.21010739T>G | CA346002560 | APOB | c.6129A>C (p.Arg2043Ser) c.5865-2A>C (n.5865-2A>C) | |
2 | g.21010740C>A | CA346002566 | APOB | c.6128G>T (p.Arg2043Ile) c.5865-3G>T (n.5865-3G>T) | |
2 | g.21010740C= | CA2493476825 | APOB | c.6128G= (p.Arg2043=) c.5865-3G= (n.5865-3G=) | |
2 | g.21010740C>G | CA346002565 | APOB | c.6128G>C (p.Arg2043Thr) c.5865-3G>C (n.5865-3G>C) | |
2 | g.21010740C>T | CA346002563 | APOB | c.6128G>A (p.Arg2043Lys) c.5865-3G>A (n.5865-3G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21010741T>A | CA346002568 | APOB | c.6127A>T (p.Arg2043Ter) c.5865-4A>T (n.5865-4A>T) | |
2 | g.21010741T>C | CA346002569 | APOB | c.6127A>G (p.Arg2043Gly) c.5865-4A>G (n.5865-4A>G) | |
2 | g.21010741T>G | CA425345996 | APOB | c.6127A>C (p.Arg2043=) c.5865-4A>C (n.5865-4A>C) | |
2 | g.21010742C>A | CA346002570 | APOB | c.6126G>T (p.Met2042Ile) c.5865-5G>T (n.5865-5G>T) | dbSNP |
2 | g.21010742C= | CA2493476826 | APOB | c.6126G= (p.Met2042=) c.5865-5G= (n.5865-5G=) | |
2 | g.21010742C>G | CA346002571 | APOB | c.6126G>C (p.Met2042Ile) c.5865-5G>C (n.5865-5G>C) | |
2 | g.21010742C>T | CA346002572 | APOB | c.6126G>A (p.Met2042Ile) c.5865-5G>A (n.5865-5G>A) | ClinVar gnomAD v4 |
2 | g.21010743A= | CA2493476827 | APOB | c.6125T= (p.Met2042=) c.5865-6T= (n.5865-6T=) | |
2 | g.21010743A>C | CA346002574 | APOB | c.6125T>G (p.Met2042Arg) c.5865-6T>G (n.5865-6T>G) | |
2 | g.21010743A>G | CA062916 | APOB | c.6125T>C (p.Met2042Thr) c.5865-6T>C (n.5865-6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010743A>T | CA346002577 | APOB | c.6125T>A (p.Met2042Lys) c.5865-6T>A (n.5865-6T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010744T>A | CA346002579 | APOB | c.6124A>T (p.Met2042Leu) c.5865-7A>T (n.5865-7A>T) | |
2 | g.21010744T>C | CA346002580 | APOB | c.6124A>G (p.Met2042Val) c.5865-7A>G (n.5865-7A>G) | ClinVar gnomAD v4 |
2 | g.21010744T>G | CA346002582 | APOB | c.6124A>C (p.Met2042Leu) c.5865-7A>C (n.5865-7A>C) | |
2 | g.21010745C>A | CA346002584 | APOB | c.6123G>T (p.Glu2041Asp) c.5865-8G>T (n.5865-8G>T) | |
2 | g.21010745C>G | CA346002585 | APOB | c.6123G>C (p.Glu2041Asp) c.5865-8G>C (n.5865-8G>C) | |
2 | g.21010745C>T | CA425346002 | APOB | c.6123G>A (p.Glu2041=) c.5865-8G>A (n.5865-8G>A) | |
2 | g.21010746T>A | CA346002590 | APOB | c.6122A>T (p.Glu2041Val) c.5865-9A>T (n.5865-9A>T) | |
2 | g.21010746T>C | CA346002588 | APOB | c.6122A>G (p.Glu2041Gly) c.5865-9A>G (n.5865-9A>G) | ClinVar gnomAD v4 |
2 | g.21010746T>G | CA346002587 | APOB | c.6122A>C (p.Glu2041Ala) c.5865-9A>C (n.5865-9A>C) | |
2 | g.21010747C>A | CA346002592 | APOB | c.6121G>T (p.Glu2041Ter) c.5865-10G>T (n.5865-10G>T) | |
2 | g.21010747C>G | CA346002596 | APOB | c.6121G>C (p.Glu2041Gln) c.5865-10G>C (n.5865-10G>C) | COSMIC |
2 | g.21010747C>T | CA346002594 | APOB | c.6121G>A (p.Glu2041Lys) c.5865-10G>A (n.5865-10G>A) | |
2 | g.21010748T>A | CA346002597 | APOB | c.6120A>T (p.Leu2040Phe) c.5865-11A>T (n.5865-11A>T) | |
2 | g.21010748T>C | CA425346004 | APOB | c.6120A>G (p.Leu2040=) c.5865-11A>G (n.5865-11A>G) | |
2 | g.21010748T>G | CA346002598 | APOB | c.6120A>C (p.Leu2040Phe) c.5865-11A>C (n.5865-11A>C) | |
2 | g.21010749A= | CA2493476828 | APOB | c.6119T= (p.Leu2040=) c.5865-12T= (n.5865-12T=) | |
2 | g.21010749A>C | CA346002600 | APOB | c.6119T>G (p.Leu2040Ter) c.5865-12T>G (n.5865-12T>G) | |
2 | g.21010749A>G | CA346002603 | APOB | c.6119T>C (p.Leu2040Ser) c.5865-12T>C (n.5865-12T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21010749A>T | CA346002602 | APOB | c.6119T>A (p.Leu2040Ter) c.5865-12T>A (n.5865-12T>A) | |
2 | g.21010750A>C | CA346002604 | APOB | c.6118T>G (p.Leu2040Val) c.5865-13T>G (n.5865-13T>G) | |
2 | g.21010750A>G | CA425346006 | APOB | c.6118T>C (p.Leu2040=) c.5865-13T>C (n.5865-13T>C) | |
2 | g.21010750A>T | CA346002605 | APOB | c.6118T>A (p.Leu2040Ile) c.5865-13T>A (n.5865-13T>A) | |
2 | g.21010751A>C | CA425346008 | APOB | c.6117T>G (p.Ala2039=) c.5865-14T>G (n.5865-14T>G) | |
2 | g.21010751A>G | CA425346009 | APOB | c.6117T>C (p.Ala2039=) c.5865-14T>C (n.5865-14T>C) | |
2 | g.21010751A>T | CA425346010 | APOB | c.6117T>A (p.Ala2039=) c.5865-14T>A (n.5865-14T>A) | |
2 | g.21010752G>A | CA346002606 | APOB | c.6116C>T (p.Ala2039Val) c.5865-15C>T (n.5865-15C>T) | |
2 | g.21010752G>C | CA346002609 | APOB | c.6116C>G (p.Ala2039Gly) c.5865-15C>G (n.5865-15C>G) | COSMIC |
2 | g.21010752G>T | CA346002607 | APOB | c.6116C>A (p.Ala2039Asp) c.5865-15C>A (n.5865-15C>A) | |
2 | g.21010752_21010753insTCAATGATATT | CA2586968877 | APOB | c.6115_6116insAATATCATTGA (p.Ala2039GlufsTer4) c.5865-16_5865-15insAATATCATTGA (n.5865-16_5865-15insAATATCATTGA) | |
2 | g.21010753C>A | CA346002611 | APOB | c.6115G>T (p.Ala2039Ser) c.5865-16G>T (n.5865-16G>T) | |
2 | g.21010753C>G | CA346002615 | APOB | c.6115G>C (p.Ala2039Pro) c.5865-16G>C (n.5865-16G>C) | |
2 | g.21010753C>T | CA346002613 | APOB | c.6115G>A (p.Ala2039Thr) c.5865-16G>A (n.5865-16G>A) | |
2 | g.21010754A= | CA2493476829 | APOB | c.6114T= (p.Asp2038=) c.5865-17T= (n.5865-17T=) | |
2 | g.21010754A>C | CA346002616 | APOB | c.6114T>G (p.Asp2038Glu) c.5865-17T>G (n.5865-17T>G) | gnomAD v4 |
2 | g.21010754A>G | CA425346012 | APOB | c.6114T>C (p.Asp2038=) c.5865-17T>C (n.5865-17T>C) | |
2 | g.21010754A>T | CA346002617 | APOB | c.6114T>A (p.Asp2038Glu) c.5865-17T>A (n.5865-17T>A) | dbSNP |
2 | g.21010755T>A | CA346002618 | APOB | c.6113A>T (p.Asp2038Val) c.5865-18A>T (n.5865-18A>T) | |
2 | g.21010755T>C | CA062912 | APOB | c.6113A>G (p.Asp2038Gly) c.5865-18A>G (n.5865-18A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010755T>G | CA346002621 | APOB | c.6113A>C (p.Asp2038Ala) c.5865-18A>C (n.5865-18A>C) | |
2 | g.21010755T= | CA2493476830 | APOB | c.6113A= (p.Asp2038=) c.5865-18A= (n.5865-18A=) | |
2 | g.21010756C>A | CA346002623 | APOB | c.6112G>T (p.Asp2038Tyr) c.5865-19G>T (n.5865-19G>T) | |
2 | g.21010756C= | CA2493476831 | APOB | c.6112G= (p.Asp2038=) c.5865-19G= (n.5865-19G=) | |
2 | g.21010756C>G | CA346002625 | APOB | c.6112G>C (p.Asp2038His) c.5865-19G>C (n.5865-19G>C) | |
2 | g.21010756C>T | CA346002627 | APOB | c.6112G>A (p.Asp2038Asn) c.5865-19G>A (n.5865-19G>A) | dbSNP gnomAD v4 COSMIC |
2 | g.21010757A>C | CA346002629 | APOB | c.6111T>G (p.Ile2037Met) c.5865-20T>G (n.5865-20T>G) | gnomAD v4 |
2 | g.21010757A>G | CA425346018 | APOB | c.6111T>C (p.Ile2037=) c.5865-20T>C (n.5865-20T>C) | |
2 | g.21010757A>T | CA425346020 | APOB | c.6111T>A (p.Ile2037=) c.5865-20T>A (n.5865-20T>A) | |
2 | g.21010758A= | CA2493476832 | APOB | c.6110T= (p.Ile2037=) c.5865-21T= (n.5865-21T=) | |
2 | g.21010758A>C | CA062908 | APOB | c.6110T>G (p.Ile2037Ser) c.5865-21T>G (n.5865-21T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21010758A>G | CA062903 | APOB | c.6110T>C (p.Ile2037Thr) c.5865-21T>C (n.5865-21T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010758A>T | CA346002633 | APOB | c.6110T>A (p.Ile2037Asn) c.5865-21T>A (n.5865-21T>A) | |
2 | g.21010759T>A | CA346002635 | APOB | c.6109A>T (p.Ile2037Phe) c.5865-22A>T (n.5865-22A>T) | |
2 | g.21010759T>C | CA43505702 | APOB | c.6109A>G (p.Ile2037Val) c.5865-22A>G (n.5865-22A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21010759T>G | CA346002636 | APOB | c.6109A>C (p.Ile2037Leu) c.5865-22A>C (n.5865-22A>C) | |
2 | g.21010759T= | CA2493476833 | APOB | c.6109A= (p.Ile2037=) c.5865-22A= (n.5865-22A=) | |
2 | g.21010760G>A | CA425346025 | APOB | c.6108C>T (p.Ile2036=) c.5865-23C>T (n.5865-23C>T) | |
2 | g.21010760G>C | CA346002640 | APOB | c.6108C>G (p.Ile2036Met) c.5865-23C>G (n.5865-23C>G) | |
2 | g.21010760G>T | CA425346026 | APOB | c.6108C>A (p.Ile2036=) c.5865-23C>A (n.5865-23C>A) | |
2 | g.21010761A>C | CA346002642 | APOB | c.6107T>G (p.Ile2036Ser) c.5865-24T>G (n.5865-24T>G) | gnomAD v4 |
2 | g.21010761A>G | CA346002644 | APOB | c.6107T>C (p.Ile2036Thr) c.5865-24T>C (n.5865-24T>C) | |
2 | g.21010761A>T | CA346002645 | APOB | c.6107T>A (p.Ile2036Asn) c.5865-24T>A (n.5865-24T>A) | |
2 | g.21010762T>A | CA346002648 | APOB | c.6106A>T (p.Ile2036Phe) c.5865-25A>T (n.5865-25A>T) | |
2 | g.21010762T>C | CA43505703 | APOB | c.6106A>G (p.Ile2036Val) c.5865-25A>G (n.5865-25A>G) | dbSNP gnomAD v4 |
2 | g.21010762T>G | CA346002651 | APOB | c.6106A>C (p.Ile2036Leu) c.5865-25A>C (n.5865-25A>C) | |
2 | g.21010762T= | CA2493476834 | APOB | c.6106A= (p.Ile2036=) c.5865-25A= (n.5865-25A=) | |
2 | g.21010763A= | CA2493476835 | APOB | c.6105T= (p.Asn2035=) c.5865-26T= (n.5865-26T=) | |
2 | g.21010763A>C | CA346002654 | APOB | c.6105T>G (p.Asn2035Lys) c.5865-26T>G (n.5865-26T>G) | |
2 | g.21010763A>G | CA425346032 | APOB | c.6105T>C (p.Asn2035=) c.5865-26T>C (n.5865-26T>C) | dbSNP |
2 | g.21010763A>T | CA346002655 | APOB | c.6105T>A (p.Asn2035Lys) c.5865-26T>A (n.5865-26T>A) | |
2 | g.21010764T>A | CA346002659 | APOB | c.6104A>T (p.Asn2035Ile) c.5865-27A>T (n.5865-27A>T) | |
2 | g.21010764T>C | CA062898 | APOB | c.6104A>G (p.Asn2035Ser) c.5865-27A>G (n.5865-27A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.21010764T>G | CA346002657 | APOB | c.6104A>C (p.Asn2035Thr) c.5865-27A>C (n.5865-27A>C) | |
2 | g.21010764T= | CA2493476836 | APOB | c.6104A= (p.Asn2035=) c.5865-27A= (n.5865-27A=) | |
2 | g.21010765del | CA2503466614 | APOB | c.6104del (p.Asn2035IlefsTer6) c.5865-27del (n.5865-27del) | |
2 | g.21010765T>A | CA346002663 | APOB | c.6103A>T (p.Asn2035Tyr) c.5865-28A>T (n.5865-28A>T) | |
2 | g.21010765T>C | CA346002666 | APOB | c.6103A>G (p.Asn2035Asp) c.5865-28A>G (n.5865-28A>G) | gnomAD v4 |
2 | g.21010765T>G | CA346002668 | APOB | c.6103A>C (p.Asn2035His) c.5865-28A>C (n.5865-28A>C) | |
2 | g.21010766G>A | CA425346038 | APOB | c.6102C>T (p.Ile2034=) c.5865-29C>T (n.5865-29C>T) | dbSNP gnomAD v4 |
2 | g.21010766G>C | CA346002673 | APOB | c.6102C>G (p.Ile2034Met) c.5865-29C>G (n.5865-29C>G) | |
2 | g.21010766G>T | CA425346040 | APOB | c.6102C>A (p.Ile2034=) c.5865-29C>A (n.5865-29C>A) |