UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.19954248C>A | CA370468516 | LPL | c.670C>A (p.Gln224Lys) | |
| 8 | g.19954248C= | CA1769102632 | LPL | c.670C= (p.Gln224=) | |
| 8 | g.19954248C>G | CA370468517 | LPL | c.670C>G (p.Gln224Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954248C>T | CA370468518 | LPL | c.670C>T (p.Gln224Ter) | |
| 8 | g.19954249A>C | CA370468521 | LPL | c.671A>C (p.Gln224Pro) | |
| 8 | g.19954249A>G | CA370468519 | LPL | c.671A>G (p.Gln224Arg) | |
| 8 | g.19954249A>T | CA370468520 | LPL | c.671A>T (p.Gln224Leu) | |
| 8 | g.19954250G>A | CA459879486 | LPL | c.672G>A (p.Gln224=) | |
| 8 | g.19954250G>C | CA370468522 | LPL | c.672G>C (p.Gln224His) | |
| 8 | g.19954250G= | CA1769102642 | LPL | c.672G= (p.Gln224=) | |
| 8 | g.19954250G>T | CA370468523 | LPL | c.672G>T (p.Gln224His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954251A>C | CA370468524 | LPL | c.673A>C (p.Lys225Gln) | |
| 8 | g.19954251A>G | CA370468525 | LPL | c.673A>G (p.Lys225Glu) | |
| 8 | g.19954251A>T | CA370468526 | LPL | c.673A>T (p.Lys225Ter) | gnomAD v4 |
| 8 | g.19954252A>C | CA370468527 | LPL | c.674A>C (p.Lys225Thr) | |
| 8 | g.19954252A>G | CA370468529 | LPL | c.674A>G (p.Lys225Arg) | |
| 8 | g.19954252A>T | CA370468528 | LPL | c.674A>T (p.Lys225Ile) | |
| 8 | g.19954253A>C | CA370468530 | LPL | c.675A>C (p.Lys225Asn) | |
| 8 | g.19954253A>G | CA459879488 | LPL | c.675A>G (p.Lys225=) | gnomAD v4 |
| 8 | g.19954253A>T | CA370468531 | LPL | c.675A>T (p.Lys225Asn) | |
| 8 | g.19954254C>A | CA4655489 | LPL | c.676C>A (p.Pro226Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954254C= | CA1769102652 | LPL | c.676C= (p.Pro226=) | |
| 8 | g.19954254C>G | CA370468532 | LPL | c.676C>G (p.Pro226Ala) | |
| 8 | g.19954254C>T | CA370468533 | LPL | c.676C>T (p.Pro226Ser) | |
| 8 | g.19954255C>A | CA370468534 | LPL | c.677C>A (p.Pro226Gln) | |
| 8 | g.19954255C>G | CA370468535 | LPL | c.677C>G (p.Pro226Arg) | |
| 8 | g.19954255C>T | CA370468536 | LPL | c.677C>T (p.Pro226Leu) | |
| 8 | g.19954256A= | CA1769102659 | LPL | c.678A= (p.Pro226=) | |
| 8 | g.19954256A>C | CA459879491 | LPL | c.678A>C (p.Pro226=) | |
| 8 | g.19954256A>G | CA4655490 | LPL | c.678A>G (p.Pro226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954256A>T | CA459879492 | LPL | c.678A>T (p.Pro226=) | |
| 8 | g.19954257G>A | CA370468537 | LPL | c.679G>A (p.Val227Ile) | |
| 8 | g.19954257G>C | CA370468538 | LPL | c.679G>C (p.Val227Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954257G= | CA1769102667 | LPL | c.679G= (p.Val227=) | |
| 8 | g.19954257G>T | CA370468539 | LPL | c.679G>T (p.Val227Phe) | |
| 8 | g.19954258T>A | CA370468541 | LPL | c.680T>A (p.Val227Asp) | dbSNP |
| 8 | g.19954258T>C | CA4655491 | LPL | c.680T>C (p.Val227Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954258T>G | CA370468540 | LPL | c.680T>G (p.Val227Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.19954258T= | CA1769102671 | LPL | c.680T= (p.Val227=) | |
| 8 | g.19954259T>A | CA459879497 | LPL | c.681T>A (p.Val227=) | dbSNP |
| 8 | g.19954259T>C | CA459879498 | LPL | c.681T>C (p.Val227=) | |
| 8 | g.19954259T>G | CA459879499 | LPL | c.681T>G (p.Val227=) | |
| 8 | g.19954259T= | CA1769102676 | LPL | c.681T= (p.Val227=) | |
| 8 | g.19954260G>A | CA370468542 | LPL | c.682G>A (p.Gly228Arg) | gnomAD v4 |
| 8 | g.19954260G>C | CA370468544 | LPL | c.682G>C (p.Gly228Arg) | |
| 8 | g.19954260G>T | CA370468543 | LPL | c.682G>T (p.Gly228Trp) | |
| 8 | g.19954261G>A | CA370468545 | LPL | c.683G>A (p.Gly228Glu) | gnomAD v4 |
| 8 | g.19954261G>C | CA4655492 | LPL | c.683G>C (p.Gly228Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954261G= | CA1769102679 | LPL | c.683G= (p.Gly228=) | |
| 8 | g.19954261G>T | CA370468546 | LPL | c.683G>T (p.Gly228Val) | gnomAD v3 gnomAD v4 |
| 8 | g.19954262G>A | CA459879500 | LPL | c.684G>A (p.Gly228=) | ClinVar |
| 8 | g.19954262G>C | CA459879501 | LPL | c.684G>C (p.Gly228=) | |
| 8 | g.19954262G>T | CA459879502 | LPL | c.684G>T (p.Gly228=) | ClinVar dbSNP |
| 8 | g.19954263C>A | CA370468547 | LPL | c.685C>A (p.His229Asn) | |
| 8 | g.19954263C= | CA1769102682 | LPL | c.685C= (p.His229=) | |
| 8 | g.19954263C>G | CA4655493 | LPL | c.685C>G (p.His229Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954263C>T | CA370468548 | LPL | c.685C>T (p.His229Tyr) | |
| 8 | g.19954264A= | CA1769102685 | LPL | c.686A= (p.His229=) | |
| 8 | g.19954264A>C | CA370468549 | LPL | c.686A>C (p.His229Pro) | |
| 8 | g.19954264A>G | CA370468550 | LPL | c.686A>G (p.His229Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954264A>T | CA370468551 | LPL | c.686A>T (p.His229Leu) | |
| 8 | g.19954265T>A | CA370468552 | LPL | c.687T>A (p.His229Gln) | gnomAD v4 |
| 8 | g.19954265T>C | CA4655494 | LPL | c.687T>C (p.His229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954265T>G | CA370468553 | LPL | c.687T>G (p.His229Gln) | |
| 8 | g.19954265T= | CA1769102694 | LPL | c.687T= (p.His229=) | |
| 8 | g.19954266_19954267del | CA2686360449 | LPL | c.688_689del (p.Val230Ter) | gnomAD v4 |
| 8 | g.19954266del | CA2573142628 | LPL | c.688del (p.Val230LeufsTer22) | ClinVar dbSNP gnomAD v4 |
| 8 | g.19954266G>A | CA370468556 | LPL | c.688G>A (p.Val230Ile) | |
| 8 | g.19954266G>C | CA370468554 | LPL | c.688G>C (p.Val230Leu) | |
| 8 | g.19954266G>T | CA370468555 | LPL | c.688G>T (p.Val230Phe) | COSMIC |
| 8 | g.19954267T>A | CA370468557 | LPL | c.689T>A (p.Val230Asp) | |
| 8 | g.19954267T>C | CA4655495 | LPL | c.689T>C (p.Val230Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954267T>G | CA370468558 | LPL | c.689T>G (p.Val230Gly) | |
| 8 | g.19954267T= | CA1769102704 | LPL | c.689T= (p.Val230=) | |
| 8 | g.19954268T>A | CA459879504 | LPL | c.690T>A (p.Val230=) | |
| 8 | g.19954268T>C | CA459879505 | LPL | c.690T>C (p.Val230=) | |
| 8 | g.19954268T>G | CA459879503 | LPL | c.690T>G (p.Val230=) | |
| 8 | g.19954268_19954269insCA | CA2686360450 | LPL | c.690_691insCA (p.Asp231GlnfsTer22) | gnomAD v4 |
| 8 | g.19954269G>A | CA370468559 | LPL | c.691G>A (p.Asp231Asn) | ClinVar dbSNP gnomAD v4 |
| 8 | g.19954269G>C | CA370468560 | LPL | c.691G>C (p.Asp231His) | |
| 8 | g.19954269G>T | CA370468561 | LPL | c.691G>T (p.Asp231Tyr) | |
| 8 | g.19954270A>C | CA370468562 | LPL | c.692A>C (p.Asp231Ala) | |
| 8 | g.19954270A>G | CA370468563 | LPL | c.692A>G (p.Asp231Gly) | |
| 8 | g.19954270A>T | CA370468564 | LPL | c.692A>T (p.Asp231Val) | |
| 8 | g.19954271C>A | CA370468565 | LPL | c.693C>A (p.Asp231Glu) | |
| 8 | g.19954271C= | CA1769102713 | LPL | c.693C= (p.Asp231=) | |
| 8 | g.19954271C>G | CA251866 | LPL | c.693C>G (p.Asp231Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954271C>T | CA459879506 | LPL | c.693C>T (p.Asp231=) | ClinVar gnomAD v4 |
| 8 | g.19954272A>C | CA370468568 | LPL | c.694A>C (p.Ile232Leu) | |
| 8 | g.19954272A>G | CA370468567 | LPL | c.694A>G (p.Ile232Val) | |
| 8 | g.19954272A>T | CA370468566 | LPL | c.694A>T (p.Ile232Phe) | |
| 8 | g.19954273T>A | CA370468569 | LPL | c.695T>A (p.Ile232Asn) | |
| 8 | g.19954273T>C | CA370468570 | LPL | c.695T>C (p.Ile232Thr) | |
| 8 | g.19954273T>G | CA4655496 | LPL | c.695T>G (p.Ile232Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954273T= | CA1769102720 | LPL | c.695T= (p.Ile232=) | |
| 8 | g.19954274T>A | CA459879507 | LPL | c.696T>A (p.Ile232=) | |
| 8 | g.19954274T>C | CA459879508 | LPL | c.696T>C (p.Ile232=) | |
| 8 | g.19954274T>G | CA370468571 | LPL | c.696T>G (p.Ile232Met) | |
| 8 | g.19954275T>A | CA370468572 | LPL | c.697T>A (p.Tyr233Asn) | |
| 8 | g.19954275T>C | CA370468573 | LPL | c.697T>C (p.Tyr233His) | |
| 8 | g.19954275T>G | CA370468574 | LPL | c.697T>G (p.Tyr233Asp) | |
| 8 | g.19954276A>C | CA370468575 | LPL | c.698A>C (p.Tyr233Ser) | |
| 8 | g.19954276A>G | CA370468576 | LPL | c.698A>G (p.Tyr233Cys) | |
| 8 | g.19954276A>T | CA370468577 | LPL | c.698A>T (p.Tyr233Phe) | |
| 8 | g.19954277C>A | CA370468578 | LPL | c.699C>A (p.Tyr233Ter) | |
| 8 | g.19954277C= | CA1769102722 | LPL | c.699C= (p.Tyr233=) | |
| 8 | g.19954277C>G | CA370468579 | LPL | c.699C>G (p.Tyr233Ter) | |
| 8 | g.19954277C>T | CA4655497 | LPL | c.699C>T (p.Tyr233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954278C>A | CA370468582 | LPL | c.700C>A (p.Pro234Thr) | |
| 8 | g.19954278C>G | CA370468580 | LPL | c.700C>G (p.Pro234Ala) | |
| 8 | g.19954278C>T | CA370468581 | LPL | c.700C>T (p.Pro234Ser) | |
| 8 | g.19954279C>A | CA370468583 | LPL | c.701C>A (p.Pro234Gln) | gnomAD v4 |
| 8 | g.19954279C= | CA1769102729 | LPL | c.701C= (p.Pro234=) | |
| 8 | g.19954279C>G | CA370468584 | LPL | c.701C>G (p.Pro234Arg) | |
| 8 | g.19954279C>T | CA251865 | LPL | c.701C>T (p.Pro234Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954280G>A | CA459879509 | LPL | c.702G>A (p.Pro234=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.19954280G>C | CA459879510 | LPL | c.702G>C (p.Pro234=) | dbSNP |
| 8 | g.19954280G= | CA1769102730 | LPL | c.702G= (p.Pro234=) | |
| 8 | g.19954280G>T | CA459879511 | LPL | c.702G>T (p.Pro234=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954281A>C | CA370468585 | LPL | c.703A>C (p.Asn235His) | |
| 8 | g.19954281A>G | CA370468586 | LPL | c.703A>G (p.Asn235Asp) | |
| 8 | g.19954281A>T | CA370468587 | LPL | c.703A>T (p.Asn235Tyr) | |
| 8 | g.19954282A= | CA1769102742 | LPL | c.704A= (p.Asn235=) | |
| 8 | g.19954282A>C | CA370468588 | LPL | c.704A>C (p.Asn235Thr) | |
| 8 | g.19954282A>G | CA370468589 | LPL | c.704A>G (p.Asn235Ser) | gnomAD v4 |
| 8 | g.19954282A>T | CA370468590 | LPL | c.704A>T (p.Asn235Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954283T>A | CA370468591 | LPL | c.705T>A (p.Asn235Lys) | |
| 8 | g.19954283T>C | CA459879512 | LPL | c.705T>C (p.Asn235=) | ClinVar gnomAD v4 |
| 8 | g.19954283T>G | CA370468592 | LPL | c.705T>G (p.Asn235Lys) | |
| 8 | g.19954284G>A | CA370468595 | LPL | c.706G>A (p.Gly236Arg) | gnomAD v4 |
| 8 | g.19954284G>C | CA370468594 | LPL | c.706G>C (p.Gly236Arg) | |
| 8 | g.19954284G>T | CA370468593 | LPL | c.706G>T (p.Gly236Ter) | |
| 8 | g.19954285G>A | CA370468596 | LPL | c.707G>A (p.Gly236Glu) | gnomAD v4 |
| 8 | g.19954285G>C | CA370468598 | LPL | c.707G>C (p.Gly236Ala) | |
| 8 | g.19954285G>T | CA370468597 | LPL | c.707G>T (p.Gly236Val) | |
| 8 | g.19954286del | CA2686360451 | LPL | c.708del (p.Gly237ValfsTer15) | gnomAD v4 |
| 8 | g.19954286A>C | CA459879513 | LPL | c.708A>C (p.Gly236=) | |
| 8 | g.19954286A>G | CA459879514 | LPL | c.708A>G (p.Gly236=) | |
| 8 | g.19954286A>T | CA459879515 | LPL | c.708A>T (p.Gly236=) | |
| 8 | g.19954287G>A | CA370468599 | LPL | c.709G>A (p.Gly237Ser) | |
| 8 | g.19954287G>C | CA370468601 | LPL | c.709G>C (p.Gly237Arg) | |
| 8 | g.19954287G>T | CA370468600 | LPL | c.709G>T (p.Gly237Cys) | |
| 8 | g.19954288G>A | CA173377547 | LPL | c.710G>A (p.Gly237Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954288G>C | CA370468603 | LPL | c.710G>C (p.Gly237Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954288G= | CA1769102750 | LPL | c.710G= (p.Gly237=) | |
| 8 | g.19954288G>T | CA370468602 | LPL | c.710G>T (p.Gly237Val) | |
| 8 | g.19954289T>A | CA459879516 | LPL | c.711T>A (p.Gly237=) | |
| 8 | g.19954289T>C | CA459879517 | LPL | c.711T>C (p.Gly237=) | ClinVar dbSNP |
| 8 | g.19954289T>G | CA459879518 | LPL | c.711T>G (p.Gly237=) | |
| 8 | g.19954289T= | CA1769102755 | LPL | c.711T= (p.Gly237=) | |
| 8 | g.19954290A>C | CA370468604 | LPL | c.712A>C (p.Thr238Pro) | gnomAD v4 |
| 8 | g.19954290A>G | CA370468606 | LPL | c.712A>G (p.Thr238Ala) | |
| 8 | g.19954290A>T | CA370468605 | LPL | c.712A>T (p.Thr238Ser) | gnomAD v4 |
| 8 | g.19954291C>A | CA4655498 | LPL | c.713C>A (p.Thr238Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954291C= | CA1769102760 | LPL | c.713C= (p.Thr238=) | |
| 8 | g.19954291C>G | CA370468607 | LPL | c.713C>G (p.Thr238Ser) | |
| 8 | g.19954291C>T | CA370468608 | LPL | c.713C>T (p.Thr238Ile) | |
| 8 | g.19954292T>A | CA4655499 | LPL | c.714T>A (p.Thr238=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954292T>C | CA459879519 | LPL | c.714T>C (p.Thr238=) | gnomAD v4 |
| 8 | g.19954292T>G | CA459879520 | LPL | c.714T>G (p.Thr238=) | gnomAD v4 |
| 8 | g.19954292T= | CA1769102763 | LPL | c.714T= (p.Thr238=) | |
| 8 | g.19954293T>A | CA370468609 | LPL | c.715T>A (p.Phe239Ile) | |
| 8 | g.19954293T>C | CA370468610 | LPL | c.715T>C (p.Phe239Leu) | |
| 8 | g.19954293T>G | CA370468611 | LPL | c.715T>G (p.Phe239Val) | |
| 8 | g.19954294T>A | CA370468612 | LPL | c.716T>A (p.Phe239Tyr) | |
| 8 | g.19954294T>C | CA370468613 | LPL | c.716T>C (p.Phe239Ser) | |
| 8 | g.19954294T>G | CA370468614 | LPL | c.716T>G (p.Phe239Cys) | |
| 8 | g.19954295T>A | CA370468616 | LPL | c.717T>A (p.Phe239Leu) | |
| 8 | g.19954295T>C | CA4655500 | LPL | c.717T>C (p.Phe239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954295T>G | CA370468615 | LPL | c.717T>G (p.Phe239Leu) | |
| 8 | g.19954295T= | CA1769102768 | LPL | c.717T= (p.Phe239=) | |
| 8 | g.19954296C>A | CA370468617 | LPL | c.718C>A (p.Gln240Lys) | |
| 8 | g.19954296C>G | CA370468618 | LPL | c.718C>G (p.Gln240Glu) | |
| 8 | g.19954296C>T | CA370468619 | LPL | c.718C>T (p.Gln240Ter) | COSMIC |
| 8 | g.19954297A>C | CA370468620 | LPL | c.719A>C (p.Gln240Pro) | |
| 8 | g.19954297A>G | CA370468621 | LPL | c.719A>G (p.Gln240Arg) | |
| 8 | g.19954297A>T | CA370468622 | LPL | c.719A>T (p.Gln240Leu) | gnomAD v4 |
| 8 | g.19954298G>A | CA459879521 | LPL | c.720G>A (p.Gln240=) | ClinVar |
| 8 | g.19954298G>C | CA370468623 | LPL | c.720G>C (p.Gln240His) | |
| 8 | g.19954298G>T | CA370468624 | LPL | c.720G>T (p.Gln240His) | |
| 8 | g.19954299C>A | CA370468625 | LPL | c.721C>A (p.Pro241Thr) | |
| 8 | g.19954299C>G | CA370468626 | LPL | c.721C>G (p.Pro241Ala) | |
| 8 | g.19954299C>T | CA370468627 | LPL | c.721C>T (p.Pro241Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.19954300C>A | CA370468630 | LPL | c.722C>A (p.Pro241Gln) | |
| 8 | g.19954300C>G | CA370468629 | LPL | c.722C>G (p.Pro241Arg) | |
| 8 | g.19954300C>T | CA370468628 | LPL | c.722C>T (p.Pro241Leu) | gnomAD v4 |
| 8 | g.19954301A>C | CA459879522 | LPL | c.723A>C (p.Pro241=) | |
| 8 | g.19954301A>G | CA459879524 | LPL | c.723A>G (p.Pro241=) | |
| 8 | g.19954301A>T | CA459879523 | LPL | c.723A>T (p.Pro241=) | |
| 8 | g.19954302G>A | CA370468631 | LPL | c.724G>A (p.Gly242Arg) | |
| 8 | g.19954302G>C | CA370468632 | LPL | c.724G>C (p.Gly242Arg) | gnomAD v4 |
| 8 | g.19954302G>T | CA370468633 | LPL | c.724G>T (p.Gly242Ter) | |
| 8 | g.19954303G>A | CA370468634 | LPL | c.725G>A (p.Gly242Glu) | |
| 8 | g.19954303G>C | CA370468635 | LPL | c.725G>C (p.Gly242Ala) | |
| 8 | g.19954303G>T | CA370468636 | LPL | c.725G>T (p.Gly242Val) | |
| 8 | g.19954304A= | CA1769102772 | LPL | c.726A= (p.Gly242=) | |
| 8 | g.19954304A>C | CA459879525 | LPL | c.726A>C (p.Gly242=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954304A>G | CA459879526 | LPL | c.726A>G (p.Gly242=) | |
| 8 | g.19954304A>T | CA459879527 | LPL | c.726A>T (p.Gly242=) | gnomAD v4 |
| 8 | g.19954305T>A | CA370468637 | LPL | c.727T>A (p.Cys243Ser) | dbSNP gnomAD v4 |
| 8 | g.19954305T>C | CA370468638 | LPL | c.727T>C (p.Cys243Arg) | |
| 8 | g.19954305T>G | CA370468639 | LPL | c.727T>G (p.Cys243Gly) | |
| 8 | g.19954305T= | CA1769102779 | LPL | c.727T= (p.Cys243=) | |
| 8 | g.19954306G>A | CA370468640 | LPL | c.728G>A (p.Cys243Tyr) | gnomAD v4 |
| 8 | g.19954306G>C | CA370468641 | LPL | c.728G>C (p.Cys243Ser) | |
| 8 | g.19954306G>T | CA370468642 | LPL | c.728G>T (p.Cys243Phe) | gnomAD v4 |
| 8 | g.19954307T>A | CA370468644 | LPL | c.729T>A (p.Cys243Ter) | |
| 8 | g.19954307T>C | CA4655501 | LPL | c.729T>C (p.Cys243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954307T>G | CA370468643 | LPL | c.729T>G (p.Cys243Trp) | |
| 8 | g.19954307T= | CA1769102786 | LPL | c.729T= (p.Cys243=) | |
| 8 | g.19954308A>C | CA370468645 | LPL | c.730A>C (p.Asn244His) | |
| 8 | g.19954308A>G | CA370468646 | LPL | c.730A>G (p.Asn244Asp) | |
| 8 | g.19954308A>T | CA370468647 | LPL | c.730A>T (p.Asn244Tyr) | |
| 8 | g.19954309A>C | CA370468648 | LPL | c.731A>C (p.Asn244Thr) | |
| 8 | g.19954309A>G | CA370468649 | LPL | c.731A>G (p.Asn244Ser) | gnomAD v4 |
| 8 | g.19954309A>T | CA370468650 | LPL | c.731A>T (p.Asn244Ile) | |
| 8 | g.19954310C>A | CA370468651 | LPL | c.732C>A (p.Asn244Lys) | |
| 8 | g.19954310C>G | CA370468652 | LPL | c.732C>G (p.Asn244Lys) | |
| 8 | g.19954310C>T | CA459879528 | LPL | c.732C>T (p.Asn244=) | ClinVar |
| 8 | g.19954311del | CA2573053001 | LPL | c.733del (p.Ile245LeufsTer7) | dbSNP |
| 8 | g.19954311A= | CA1769102794 | LPL | c.733A= (p.Ile245=) | |
| 8 | g.19954311A>C | CA370468653 | LPL | c.733A>C (p.Ile245Leu) | |
| 8 | g.19954311A>G | CA370468654 | LPL | c.733A>G (p.Ile245Val) | dbSNP |
| 8 | g.19954311A>T | CA370468655 | LPL | c.733A>T (p.Ile245Phe) | |
| 8 | g.19954312T>A | CA370468656 | LPL | c.734T>A (p.Ile245Asn) | |
| 8 | g.19954312T>C | CA370468657 | LPL | c.734T>C (p.Ile245Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954312T>G | CA4655502 | LPL | c.734T>G (p.Ile245Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954312T= | CA1769102798 | LPL | c.734T= (p.Ile245=) | |
| 8 | g.19954313T>A | CA459879529 | LPL | c.735T>A (p.Ile245=) | |
| 8 | g.19954313T>C | CA459879530 | LPL | c.735T>C (p.Ile245=) | |
| 8 | g.19954313T>G | CA370468658 | LPL | c.735T>G (p.Ile245Met) | |
| 8 | g.19954314G>A | CA370468661 | LPL | c.736G>A (p.Gly246Arg) | |
| 8 | g.19954314G>C | CA370468663 | LPL | c.736G>C (p.Gly246Arg) | |
| 8 | g.19954314G>T | CA370468664 | LPL | c.736G>T (p.Gly246Ter) | gnomAD v4 |
| 8 | g.19954315G>A | CA370468666 | LPL | c.737G>A (p.Gly246Glu) | COSMIC |
| 8 | g.19954315G>C | CA370468668 | LPL | c.737G>C (p.Gly246Ala) | |
| 8 | g.19954315G>T | CA370468669 | LPL | c.737G>T (p.Gly246Val) | gnomAD v4 |
| 8 | g.19954316A>C | CA459879531 | LPL | c.738A>C (p.Gly246=) | |
| 8 | g.19954316A>G | CA459879532 | LPL | c.738A>G (p.Gly246=) | gnomAD v4 |
| 8 | g.19954316A>T | CA459879533 | LPL | c.738A>T (p.Gly246=) | |
| 8 | g.19954317G>A | CA173377568 | LPL | c.739G>A (p.Glu247Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954317G>C | CA370468671 | LPL | c.739G>C (p.Glu247Gln) | gnomAD v4 |
| 8 | g.19954317G= | CA1769102803 | LPL | c.739G= (p.Glu247=) | |
| 8 | g.19954317G>T | CA370468673 | LPL | c.739G>T (p.Glu247Ter) | |
| 8 | g.19954318A>C | CA370468675 | LPL | c.740A>C (p.Glu247Ala) | |
| 8 | g.19954318A>G | CA370468677 | LPL | c.740A>G (p.Glu247Gly) | |
| 8 | g.19954318A>T | CA370468679 | LPL | c.740A>T (p.Glu247Val) | |
| 8 | g.19954319A>C | CA370468680 | LPL | c.741A>C (p.Glu247Asp) | |
| 8 | g.19954319A>G | CA459879534 | LPL | c.741A>G (p.Glu247=) | ClinVar dbSNP |
| 8 | g.19954319A>T | CA370468682 | LPL | c.741A>T (p.Glu247Asp) | |
| 8 | g.19954319_19954320delinsAG | CA1769102809 | LPL | c.741_742delinsAG (p.Glu247=) | |
| 8 | g.19954320del | CA913189923 | LPL | c.742del (p.Ala248LeufsTer4) | ClinVar dbSNP gnomAD v4 |
| 8 | g.19954320G>A | CA370468684 | LPL | c.742G>A (p.Ala248Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954320G>C | CA370468688 | LPL | c.742G>C (p.Ala248Pro) | |
| 8 | g.19954320G= | CA1769102816 | LPL | c.742G= (p.Ala248=) | |
| 8 | g.19954320G>T | CA370468686 | LPL | c.742G>T (p.Ala248Ser) | |
| 8 | g.19954321C>A | CA370468690 | LPL | c.743C>A (p.Ala248Asp) | gnomAD v4 |
| 8 | g.19954321C>G | CA370468692 | LPL | c.743C>G (p.Ala248Gly) | |
| 8 | g.19954321C>T | CA370468693 | LPL | c.743C>T (p.Ala248Val) | ClinVar COSMIC |
| 8 | g.19954322T>A | CA459879536 | LPL | c.744T>A (p.Ala248=) | |
| 8 | g.19954322T>C | CA4655503 | LPL | c.744T>C (p.Ala248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954322T>G | CA459879535 | LPL | c.744T>G (p.Ala248=) | |
| 8 | g.19954322T= | CA1769102819 | LPL | c.744T= (p.Ala248=) | |
| 8 | g.19954323A>C | CA370468696 | LPL | c.745A>C (p.Ile249Leu) | |
| 8 | g.19954323A>G | CA370468697 | LPL | c.745A>G (p.Ile249Val) | |
| 8 | g.19954323A>T | CA370468700 | LPL | c.745A>T (p.Ile249Phe) | |
| 8 | g.19954324T>A | CA370468702 | LPL | c.746T>A (p.Ile249Asn) | |
| 8 | g.19954324T>C | CA370468703 | LPL | c.746T>C (p.Ile249Thr) | dbSNP COSMIC |
| 8 | g.19954324T>G | CA370468705 | LPL | c.746T>G (p.Ile249Ser) | |
| 8 | g.19954324T= | CA1769102824 | LPL | c.746T= (p.Ile249=) | |
| 8 | g.19954325C>A | CA459879537 | LPL | c.747C>A (p.Ile249=) | |
| 8 | g.19954325C= | CA1769102831 | LPL | c.747C= (p.Ile249=) | |
| 8 | g.19954325C>G | CA370468707 | LPL | c.747C>G (p.Ile249Met) | |
| 8 | g.19954325C>T | CA459879538 | LPL | c.747C>T (p.Ile249=) | dbSNP |
| 8 | g.19954326C>A | CA370468713 | LPL | c.748C>A (p.Arg250Ser) | |
| 8 | g.19954326C= | CA1769102837 | LPL | c.748C= (p.Arg250=) | |
| 8 | g.19954326C>G | CA370468711 | LPL | c.748C>G (p.Arg250Gly) | |
| 8 | g.19954326C>T | CA4655504 | LPL | c.748C>T (p.Arg250Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.19954327G>A | CA4655505 | LPL | c.749G>A (p.Arg250His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.19954327G>C | CA370468716 | LPL | c.749G>C (p.Arg250Pro) | |
| 8 | g.19954327G= | CA1769102844 | LPL | c.749G= (p.Arg250=) | |
| 8 | g.19954327G>T | CA370468718 | LPL | c.749G>T (p.Arg250Leu) | |
| 8 | g.19954328C>A | CA459879539 | LPL | c.750C>A (p.Arg250=) | |
| 8 | g.19954328C= | CA1769102847 | LPL | c.750C= (p.Arg250=) | |
| 8 | g.19954328C>G | CA459879540 | LPL | c.750C>G (p.Arg250=) | |
| 8 | g.19954328C>T | CA4655506 | LPL | c.750C>T (p.Arg250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954329G>A | CA4655507 | LPL | c.751G>A (p.Val251Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.19954329G>C | CA370468722 | LPL | c.751G>C (p.Val251Leu) | gnomAD v4 |
| 8 | g.19954329G= | CA1769102854 | LPL | c.751G= (p.Val251=) | |
| 8 | g.19954329G>T | CA370468724 | LPL | c.751G>T (p.Val251Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954330T>A | CA370468726 | LPL | c.752T>A (p.Val251Glu) | |
| 8 | g.19954330T>C | CA370468727 | LPL | c.752T>C (p.Val251Ala) | |
| 8 | g.19954330T>G | CA370468729 | LPL | c.752T>G (p.Val251Gly) | |
| 8 | g.19954331G>A | CA459879541 | LPL | c.753G>A (p.Val251=) | |
| 8 | g.19954331G>C | CA459879542 | LPL | c.753G>C (p.Val251=) | |
| 8 | g.19954331G>T | CA459879543 | LPL | c.753G>T (p.Val251=) | |
| 8 | g.19954332A>C | CA370468730 | LPL | c.754A>C (p.Ile252Leu) | |
| 8 | g.19954332A>G | CA370468732 | LPL | c.754A>G (p.Ile252Val) | |
| 8 | g.19954332A>T | CA370468733 | LPL | c.754A>T (p.Ile252Phe) | |
| 8 | g.19954333T>A | CA370468739 | LPL | c.755T>A (p.Ile252Asn) | gnomAD v4 |
| 8 | g.19954333T>C | CA251891 | LPL | c.755T>C (p.Ile252Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954333T>G | CA370468737 | LPL | c.755T>G (p.Ile252Ser) | |
| 8 | g.19954333T= | CA1769102858 | LPL | c.755T= (p.Ile252=) | |
| 8 | g.19954334T>A | CA459879544 | LPL | c.756T>A (p.Ile252=) | |
| 8 | g.19954334T>C | CA459879545 | LPL | c.756T>C (p.Ile252=) | |
| 8 | g.19954334T>G | CA370468741 | LPL | c.756T>G (p.Ile252Met) | dbSNP gnomAD v4 |
| 8 | g.19954334T= | CA1769102866 | LPL | c.756T= (p.Ile252=) | |
| 8 | g.19954335G>A | CA370468743 | LPL | c.757G>A (p.Ala253Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.19954335G>C | CA370468745 | LPL | c.757G>C (p.Ala253Pro) | |
| 8 | g.19954335G= | CA1769102873 | LPL | c.757G= (p.Ala253=) | |
| 8 | g.19954335G>T | CA370468747 | LPL | c.757G>T (p.Ala253Ser) | |
| 8 | g.19954336C>A | CA370468750 | LPL | c.758C>A (p.Ala253Glu) | |
| 8 | g.19954336C= | CA1769102883 | LPL | c.758C= (p.Ala253=) | |
| 8 | g.19954336C>G | CA370468752 | LPL | c.758C>G (p.Ala253Gly) | |
| 8 | g.19954336C>T | CA370468753 | LPL | c.758C>T (p.Ala253Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954336_19954340delinsCAGAG | CA1769102879 | LPL | c.758_762delinsCAGAG (p.Ala253=) | |
| 8 | g.19954337A>C | CA459879546 | LPL | c.759A>C (p.Ala253=) | |
| 8 | g.19954337A>G | CA459879547 | LPL | c.759A>G (p.Ala253=) | gnomAD v4 |
| 8 | g.19954337A>T | CA459879548 | LPL | c.759A>T (p.Ala253=) | |
| 8 | g.19954343_19954344del | CA2579105850 | LPL | c.765_766del (p.Gly256ThrfsTer26) | ClinVar dbSNP gnomAD v4 |
| 8 | g.19954341_19954344del | CA580502332 | LPL | c.763_766del (p.Arg255AspfsTer8) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954338G>A | CA370468754 | LPL | c.760G>A (p.Glu254Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954338G>C | CA370468755 | LPL | c.760G>C (p.Glu254Gln) | gnomAD v4 |
| 8 | g.19954338G= | CA1769102892 | LPL | c.760G= (p.Glu254=) | |
| 8 | g.19954338G>T | CA370468757 | LPL | c.760G>T (p.Glu254Ter) | |
| 8 | g.19954339A>C | CA370468759 | LPL | c.761A>C (p.Glu254Ala) | |
| 8 | g.19954339A>G | CA370468761 | LPL | c.761A>G (p.Glu254Gly) | |
| 8 | g.19954339A>T | CA370468762 | LPL | c.761A>T (p.Glu254Val) | |
| 8 | g.19954340G>A | CA459879549 | LPL | c.762G>A (p.Glu254=) | |
| 8 | g.19954340G>C | CA370468764 | LPL | c.762G>C (p.Glu254Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954340G= | CA1769102898 | LPL | c.762G= (p.Glu254=) | |
| 8 | g.19954340G>T | CA370468766 | LPL | c.762G>T (p.Glu254Asp) | |
| 8 | g.19954341A= | CA1769102902 | LPL | c.763A= (p.Arg255=) | |
| 8 | g.19954341A>C | CA459879550 | LPL | c.763A>C (p.Arg255=) | |
| 8 | g.19954341A>G | CA370468767 | LPL | c.763A>G (p.Arg255Gly) | dbSNP gnomAD v2 |
| 8 | g.19954341A>T | CA370468768 | LPL | c.763A>T (p.Arg255Ter) | gnomAD v4 |
| 8 | g.19954342G>A | CA370468770 | LPL | c.764G>A (p.Arg255Lys) | |
| 8 | g.19954342G>C | CA370468772 | LPL | c.764G>C (p.Arg255Thr) | dbSNP |
| 8 | g.19954342G= | CA1769102906 | LPL | c.764G= (p.Arg255=) | |
| 8 | g.19954342G>T | CA370468773 | LPL | c.764G>T (p.Arg255Ile) | |
| 8 | g.19954343A>C | CA370468775 | LPL | c.765A>C (p.Arg255Ser) | |
| 8 | g.19954343A>G | CA459879551 | LPL | c.765A>G (p.Arg255=) | |
| 8 | g.19954343A>T | CA370468776 | LPL | c.765A>T (p.Arg255Ser) | |
| 8 | g.19954344G>A | CA370468778 | LPL | c.766G>A (p.Gly256Arg) | gnomAD v4 |
| 8 | g.19954344G>C | CA370468779 | LPL | c.766G>C (p.Gly256Arg) | |
| 8 | g.19954344G>T | CA370468781 | LPL | c.766G>T (p.Gly256Ter) | |
| 8 | g.19954345G>A | CA370468783 | LPL | c.767G>A (p.Gly256Glu) | dbSNP gnomAD v4 |
| 8 | g.19954345G>C | CA370468787 | LPL | c.767G>C (p.Gly256Ala) | COSMIC |
| 8 | g.19954345G= | CA1769102909 | LPL | c.767G= (p.Gly256=) | |
| 8 | g.19954345G>T | CA370468785 | LPL | c.767G>T (p.Gly256Val) | gnomAD v4 |
| 8 | g.19954345_19954346insTAAATATT | CA4655508 | LPL | c.767_768insTAAATATT (p.Leu257LysfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954346A>C | CA459879552 | LPL | c.768A>C (p.Gly256=) | ClinVar gnomAD v4 |
| 8 | g.19954346A>G | CA459879553 | LPL | c.768A>G (p.Gly256=) | |
| 8 | g.19954346A>T | CA459879554 | LPL | c.768A>T (p.Gly256=) | |
| 8 | g.19954347C>A | CA370468790 | LPL | c.769C>A (p.Leu257Ile) | |
| 8 | g.19954347C= | CA1769102916 | LPL | c.769C= (p.Leu257=) | |
| 8 | g.19954347C>G | CA370468793 | LPL | c.769C>G (p.Leu257Val) | |
| 8 | g.19954347C>T | CA4655509 | LPL | c.769C>T (p.Leu257Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954348T>A | CA370468796 | LPL | c.770T>A (p.Leu257His) | |
| 8 | g.19954348T>C | CA370468799 | LPL | c.770T>C (p.Leu257Pro) | |
| 8 | g.19954348T>G | CA370468798 | LPL | c.770T>G (p.Leu257Arg) |