| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.10622577G>A | CA845135714 | RP1L1 | c.609+16C>T (n.609+16C>T) n.859+16C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622577G>C | CA2686114363 | RP1L1 | c.609+16C>G (n.609+16C>G) n.859+16C>G | gnomAD v4 |
| 8 | g.10622577G= | CA1763389414 | RP1L1 | c.609+16C= (n.609+16C=) n.859+16C= | |
| 8 | g.10622577G>T | CA1763389415 | RP1L1 | c.609+16C>A (n.609+16C>A) n.859+16C>A | dbSNP gnomAD v4 |
| 8 | g.10622578A= | CA1763389416 | RP1L1 | c.609+15T= (n.609+15T=) n.859+15T= | |
| 8 | g.10622578A>T | CA1763389418 | RP1L1 | c.609+15T>A (n.609+15T>A) n.859+15T>A | dbSNP gnomAD v4 |
| 8 | g.10622579C>A | CA1763389422 | RP1L1 | c.609+14G>T (n.609+14G>T) n.859+14G>T | dbSNP gnomAD v4 |
| 8 | g.10622579C= | CA1763389421 | RP1L1 | c.609+14G= (n.609+14G=) n.859+14G= | |
| 8 | g.10622579C>T | CA1763389423 | RP1L1 | c.609+14G>A (n.609+14G>A) n.859+14G>A | dbSNP gnomAD v4 |
| 8 | g.10622580C>A | CA2686114365 | RP1L1 | c.609+13G>T (n.609+13G>T) n.859+13G>T | gnomAD v4 |
| 8 | g.10622580C= | CA1763389424 | RP1L1 | c.609+13G= (n.609+13G=) n.859+13G= | |
| 8 | g.10622580C>T | CA1763389425 | RP1L1 | c.609+13G>A (n.609+13G>A) n.859+13G>A | ClinVar dbSNP |
| 8 | g.10622581C= | CA1763389426 | RP1L1 | c.609+12G= (n.609+12G=) n.859+12G= | |
| 8 | g.10622581C>G | CA4625616 | RP1L1 | c.609+12G>C (n.609+12G>C) n.859+12G>C | dbSNP ExAC |
| 8 | g.10622581C>T | CA4625617 | RP1L1 | c.609+12G>A (n.609+12G>A) n.859+12G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622582C= | CA1763389428 | RP1L1 | c.609+11G= (n.609+11G=) n.859+11G= | |
| 8 | g.10622582C>T | CA4625618 | RP1L1 | c.609+11G>A (n.609+11G>A) n.859+11G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622584A= | CA1763389430 | RP1L1 | c.609+9T= (n.609+9T=) n.859+9T= | |
| 8 | g.10622584A>G | CA4625619 | RP1L1 | c.609+9T>C (n.609+9T>C) n.859+9T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622585C>A | CA580030534 | RP1L1 | c.609+8G>T (n.609+8G>T) n.859+8G>T | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622585C= | CA1763389432 | RP1L1 | c.609+8G= (n.609+8G=) n.859+8G= | |
| 8 | g.10622585C>G | CA4625620 | RP1L1 | c.609+8G>C (n.609+8G>C) n.859+8G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622585C>T | CA580030535 | RP1L1 | c.609+8G>A (n.609+8G>A) n.859+8G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622586A= | CA1763389435 | RP1L1 | c.609+7T= (n.609+7T=) n.859+7T= | |
| 8 | g.10622586A>G | CA4625621 | RP1L1 | c.609+7T>C (n.609+7T>C) n.859+7T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622587G>A | CA4625622 | RP1L1 | c.609+6C>T (n.609+6C>T) n.859+6C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622587G= | CA1763389436 | RP1L1 | c.609+6C= (n.609+6C=) n.859+6C= | |
| 8 | g.10622587G>T | CA580030536 | RP1L1 | c.609+6C>A (n.609+6C>A) n.859+6C>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622588C>A | CA4625623 | RP1L1 | c.609+5G>T (n.609+5G>T) n.859+5G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622588C= | CA1763389439 | RP1L1 | c.609+5G= (n.609+5G=) n.859+5G= | |
| 8 | g.10622588C>T | CA580030537 | RP1L1 | c.609+5G>A (n.609+5G>A) n.859+5G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622589dup | CA2686114369 | RP1L1 | c.609+5dup (n.609+5dup) n.859+5dup | gnomAD v4 |
| 8 | g.10622589C= | CA1763389443 | RP1L1 | c.609+4G= (n.609+4G=) n.859+4G= | |
| 8 | g.10622589C>G | CA2686114372 | RP1L1 | c.609+4G>C (n.609+4G>C) n.859+4G>C | gnomAD v4 |
| 8 | g.10622589C>T | CA4625624 | RP1L1 | c.609+4G>A (n.609+4G>A) n.859+4G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622590T>C | CA580030538 | RP1L1 | c.609+3A>G (n.609+3A>G) n.859+3A>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622590T= | CA1763389444 | RP1L1 | c.609+3A= (n.609+3A=) n.859+3A= | |
| 8 | g.10622591A= | CA1763389448 | RP1L1 | c.609+2T= (n.609+2T=) n.859+2T= | |
| 8 | g.10622591A>C | CA370299648 | RP1L1 | c.609+2T>G (n.609+2T>G) n.859+2T>G | |
| 8 | g.10622591A>G | CA4625625 | RP1L1 | c.609+2T>C (n.609+2T>C) n.859+2T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622591A>T | CA370299649 | RP1L1 | c.609+2T>A (n.609+2T>A) n.859+2T>A | |
| 8 | g.10622591dup | CA2686114374 | RP1L1 | c.609+2dup (n.609+2dup) n.859+2dup | gnomAD v4 |
| 8 | g.10622592C>A | CA370299650 | RP1L1 | c.609+1G>T (n.609+1G>T) n.859+1G>T | |
| 8 | g.10622592C>G | CA370299651 | RP1L1 | c.609+1G>C (n.609+1G>C) n.859+1G>C | |
| 8 | g.10622592C>T | CA370299652 | RP1L1 | c.609+1G>A (n.609+1G>A) n.859+1G>A | gnomAD v4 |
| 8 | g.10622593C>A | CA370299654 | RP1L1 | c.609G>T (p.Lys203Asn) n.859G>T | gnomAD v4 |
| 8 | g.10622593C>G | CA370299655 | RP1L1 | c.609G>C (p.Lys203Asn) n.859G>C | gnomAD v4 |
| 8 | g.10622593C>T | CA459619847 | RP1L1 | c.609G>A (p.Lys203=) n.859G>A | |
| 8 | g.10622594T>A | CA370299656 | RP1L1 | c.608A>T (p.Lys203Met) n.858A>T | |
| 8 | g.10622594T>C | CA370299657 | RP1L1 | c.608A>G (p.Lys203Arg) n.858A>G | COSMIC |
| 8 | g.10622594T>G | CA370299659 | RP1L1 | c.608A>C (p.Lys203Thr) n.858A>C | gnomAD v4 |
| 8 | g.10622598del | CA2686114376 | RP1L1 | c.608del (p.Lys203ArgfsTer28) n.858del | gnomAD v4 |
| 8 | g.10622595T>A | CA370299660 | RP1L1 | c.607A>T (p.Lys203Ter) n.857A>T | |
| 8 | g.10622595T>C | CA370299662 | RP1L1 | c.607A>G (p.Lys203Glu) n.857A>G | |
| 8 | g.10622595T>G | CA370299663 | RP1L1 | c.607A>C (p.Lys203Gln) n.857A>C | |
| 8 | g.10622596T>A | CA370299664 | RP1L1 | c.606A>T (p.Lys202Asn) n.856A>T | |
| 8 | g.10622596T>C | CA459619848 | RP1L1 | c.606A>G (p.Lys202=) n.856A>G | |
| 8 | g.10622596T>G | CA370299665 | RP1L1 | c.606A>C (p.Lys202Asn) n.856A>C | COSMIC |
| 8 | g.10622597T>A | CA370299666 | RP1L1 | c.605A>T (p.Lys202Ile) n.855A>T | gnomAD v4 |
| 8 | g.10622597T>C | CA4625626 | RP1L1 | c.605A>G (p.Lys202Arg) n.855A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622597T>G | CA370299668 | RP1L1 | c.605A>C (p.Lys202Thr) n.855A>C | gnomAD v4 |
| 8 | g.10622597T= | CA1763389449 | RP1L1 | c.605A= (p.Lys202=) n.855A= | |
| 8 | g.10622598T>A | CA370299675 | RP1L1 | c.604A>T (p.Lys202Ter) n.854A>T | dbSNP gnomAD v4 |
| 8 | g.10622598T>C | CA171954567 | RP1L1 | c.604A>G (p.Lys202Glu) n.854A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622598T>G | CA370299676 | RP1L1 | c.604A>C (p.Lys202Gln) n.854A>C | |
| 8 | g.10622598T= | CA1763389454 | RP1L1 | c.604A= (p.Lys202=) n.854A= | |
| 8 | g.10622598_10622599delinsTC | CA1763389453 | RP1L1 | c.603_604delinsGA (p.Gly201=) n.853_854delinsGA | |
| 8 | g.10622599C>A | CA459619849 | RP1L1 | c.603G>T (p.Gly201=) n.853G>T | |
| 8 | g.10622599C= | CA1763389458 | RP1L1 | c.603G= (p.Gly201=) n.853G= | |
| 8 | g.10622599C>G | CA459619850 | RP1L1 | c.603G>C (p.Gly201=) n.853G>C | |
| 8 | g.10622599C>T | CA171954570 | RP1L1 | c.603G>A (p.Gly201=) n.853G>A | dbSNP gnomAD v4 COSMIC |
| 8 | g.10622601dup | CA2579091969 | RP1L1 | c.603dup (p.Lys202GlufsTer22) n.853dup | |
| 8 | g.10622601del | CA143754 | RP1L1 | c.603del (p.Lys203ArgfsTer28) n.853del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622600C>A | CA370299679 | RP1L1 | c.602G>T (p.Gly201Val) n.852G>T | |
| 8 | g.10622600C= | CA1763389460 | RP1L1 | c.602G= (p.Gly201=) n.852G= | |
| 8 | g.10622600C>G | CA370299681 | RP1L1 | c.602G>C (p.Gly201Ala) n.852G>C | |
| 8 | g.10622600C>T | CA4625627 | RP1L1 | c.602G>A (p.Gly201Glu) n.852G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622601C>A | CA370299682 | RP1L1 | c.601G>T (p.Gly201Trp) n.851G>T | gnomAD v4 |
| 8 | g.10622601C= | CA1763389464 | RP1L1 | c.601G= (p.Gly201=) n.851G= | |
| 8 | g.10622601C>G | CA370299683 | RP1L1 | c.601G>C (p.Gly201Arg) n.851G>C | |
| 8 | g.10622601C>T | CA4625628 | RP1L1 | c.601G>A (p.Gly201Arg) n.851G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10622602G>A | CA4625629 | RP1L1 | c.600C>T (p.Ser200=) n.850C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622602G>C | CA370299686 | RP1L1 | c.600C>G (p.Ser200Arg) n.850C>G | |
| 8 | g.10622602G= | CA1763389465 | RP1L1 | c.600C= (p.Ser200=) n.850C= | |
| 8 | g.10622602G>T | CA370299688 | RP1L1 | c.600C>A (p.Ser200Arg) n.850C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622603C>A | CA370299692 | RP1L1 | c.599G>T (p.Ser200Ile) n.849G>T | |
| 8 | g.10622603C= | CA1763389471 | RP1L1 | c.599G= (p.Ser200=) n.849G= | |
| 8 | g.10622603C>G | CA4625630 | RP1L1 | c.599G>C (p.Ser200Thr) n.849G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622603C>T | CA370299689 | RP1L1 | c.599G>A (p.Ser200Asn) n.849G>A | |
| 8 | g.10622604T>A | CA370299694 | RP1L1 | c.598A>T (p.Ser200Cys) n.848A>T | |
| 8 | g.10622604T>C | CA370299695 | RP1L1 | c.598A>G (p.Ser200Gly) n.848A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622604T>G | CA370299696 | RP1L1 | c.598A>C (p.Ser200Arg) n.848A>C | |
| 8 | g.10622604T= | CA1763389472 | RP1L1 | c.598A= (p.Ser200=) n.848A= | |
| 8 | g.10622605G>A | CA459619851 | RP1L1 | c.597C>T (p.Thr199=) n.847C>T | |
| 8 | g.10622605G>C | CA459619852 | RP1L1 | c.597C>G (p.Thr199=) n.847C>G | |
| 8 | g.10622605G>T | CA459619853 | RP1L1 | c.597C>A (p.Thr199=) n.847C>A | |
| 8 | g.10622606G>A | CA370299697 | RP1L1 | c.596C>T (p.Thr199Ile) n.846C>T | gnomAD v4 |
| 8 | g.10622606G>C | CA370299698 | RP1L1 | c.596C>G (p.Thr199Ser) n.846C>G | |
| 8 | g.10622606G>T | CA370299699 | RP1L1 | c.596C>A (p.Thr199Asn) n.846C>A | gnomAD v4 |
| 8 | g.10622607T>A | CA370299700 | RP1L1 | c.595A>T (p.Thr199Ser) n.845A>T | |
| 8 | g.10622607T>C | CA370299701 | RP1L1 | c.595A>G (p.Thr199Ala) n.845A>G | |
| 8 | g.10622607T>G | CA370299702 | RP1L1 | c.595A>C (p.Thr199Pro) n.845A>C | |
| 8 | g.10622608C>A | CA4625632 | RP1L1 | c.594G>T (p.Thr198=) n.844G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622608C= | CA1763389475 | RP1L1 | c.594G= (p.Thr198=) n.844G= | |
| 8 | g.10622608C>G | CA459619854 | RP1L1 | c.594G>C (p.Thr198=) n.844G>C | |
| 8 | g.10622608C>T | CA4625631 | RP1L1 | c.594G>A (p.Thr198=) n.844G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10622609G>A | CA4625633 | RP1L1 | c.593C>T (p.Thr198Met) n.843C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622609G>C | CA370299707 | RP1L1 | c.593C>G (p.Thr198Arg) n.843C>G | dbSNP gnomAD v4 |
| 8 | g.10622609G= | CA1763389478 | RP1L1 | c.593C= (p.Thr198=) n.843C= | |
| 8 | g.10622609G>T | CA370299706 | RP1L1 | c.593C>A (p.Thr198Lys) n.843C>A | |
| 8 | g.10622610T>A | CA370299709 | RP1L1 | c.592A>T (p.Thr198Ser) n.842A>T | |
| 8 | g.10622610T>C | CA370299710 | RP1L1 | c.592A>G (p.Thr198Ala) n.842A>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622610T>G | CA370299712 | RP1L1 | c.592A>C (p.Thr198Pro) n.842A>C | gnomAD v4 |
| 8 | g.10622610T= | CA1763389483 | RP1L1 | c.592A= (p.Thr198=) n.842A= | |
| 8 | g.10622611G>A | CA4625634 | RP1L1 | c.591C>T (p.Tyr197=) n.841C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622611G>C | CA370299714 | RP1L1 | c.591C>G (p.Tyr197Ter) n.841C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622611G= | CA1763389485 | RP1L1 | c.591C= (p.Tyr197=) n.841C= | |
| 8 | g.10622611G>T | CA370299715 | RP1L1 | c.591C>A (p.Tyr197Ter) n.841C>A | gnomAD v4 |
| 8 | g.10622612T>A | CA4625635 | RP1L1 | c.590A>T (p.Tyr197Phe) n.840A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622612T>C | CA370299718 | RP1L1 | c.590A>G (p.Tyr197Cys) n.840A>G | |
| 8 | g.10622612T>G | CA370299720 | RP1L1 | c.590A>C (p.Tyr197Ser) n.840A>C | |
| 8 | g.10622612T= | CA1763389492 | RP1L1 | c.590A= (p.Tyr197=) n.840A= | |
| 8 | g.10622613A= | CA1763389495 | RP1L1 | c.589T= (p.Tyr197=) n.839T= | |
| 8 | g.10622613A>C | CA370299722 | RP1L1 | c.589T>G (p.Tyr197Asp) n.839T>G | |
| 8 | g.10622613A>G | CA4625636 | RP1L1 | c.589T>C (p.Tyr197His) n.839T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622613A>T | CA370299724 | RP1L1 | c.589T>A (p.Tyr197Asn) n.839T>A | |
| 8 | g.10622614C>A | CA370299727 | RP1L1 | c.588G>T (p.Leu196Phe) n.838G>T | |
| 8 | g.10622614C>G | CA370299726 | RP1L1 | c.588G>C (p.Leu196Phe) n.838G>C | |
| 8 | g.10622614C>T | CA459619857 | RP1L1 | c.588G>A (p.Leu196=) n.838G>A | gnomAD v4 |
| 8 | g.10622615A= | CA1763389497 | RP1L1 | c.587T= (p.Leu196=) n.837T= | |
| 8 | g.10622615A>C | CA370299729 | RP1L1 | c.587T>G (p.Leu196Trp) n.837T>G | |
| 8 | g.10622615A>G | CA370299730 | RP1L1 | c.587T>C (p.Leu196Ser) n.837T>C | |
| 8 | g.10622615A>T | CA171954586 | RP1L1 | c.587T>A (p.Leu196Ter) n.837T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622616A= | CA1763389498 | RP1L1 | c.586T= (p.Leu196=) n.836T= | |
| 8 | g.10622616A>C | CA171954588 | RP1L1 | c.586T>G (p.Leu196Val) n.836T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622616A>G | CA459619861 | RP1L1 | c.586T>C (p.Leu196=) n.836T>C | dbSNP gnomAD v4 |
| 8 | g.10622616A>T | CA370299732 | RP1L1 | c.586T>A (p.Leu196Met) n.836T>A | |
| 8 | g.10622617C>A | CA370299733 | RP1L1 | c.585G>T (p.Gln195His) n.835G>T | |
| 8 | g.10622617C>G | CA370299734 | RP1L1 | c.585G>C (p.Gln195His) n.835G>C | gnomAD v4 |
| 8 | g.10622617C>T | CA459619862 | RP1L1 | c.585G>A (p.Gln195=) n.835G>A | |
| 8 | g.10622618T>A | CA370299735 | RP1L1 | c.584A>T (p.Gln195Leu) n.834A>T | |
| 8 | g.10622618T>C | CA370299736 | RP1L1 | c.584A>G (p.Gln195Arg) n.834A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622618T>G | CA370299737 | RP1L1 | c.584A>C (p.Gln195Pro) n.834A>C | |
| 8 | g.10622618T= | CA1763389503 | RP1L1 | c.584A= (p.Gln195=) n.834A= | |
| 8 | g.10622619G>A | CA370299738 | RP1L1 | c.583C>T (p.Gln195Ter) n.833C>T | ClinVar gnomAD v4 |
| 8 | g.10622619G>C | CA370299739 | RP1L1 | c.583C>G (p.Gln195Glu) n.833C>G | |
| 8 | g.10622619G>T | CA370299740 | RP1L1 | c.583C>A (p.Gln195Lys) n.833C>A | |
| 8 | g.10622620C>A | CA370299743 | RP1L1 | c.582G>T (p.Lys194Asn) n.832G>T | |
| 8 | g.10622620C= | CA1763389504 | RP1L1 | c.582G= (p.Lys194=) n.832G= | |
| 8 | g.10622620C>G | CA370299742 | RP1L1 | c.582G>C (p.Lys194Asn) n.832G>C | |
| 8 | g.10622620C>T | CA459619866 | RP1L1 | c.582G>A (p.Lys194=) n.832G>A | dbSNP gnomAD v4 |
| 8 | g.10622621T>A | CA370299744 | RP1L1 | c.581A>T (p.Lys194Met) n.831A>T | |
| 8 | g.10622621T>C | CA4625637 | RP1L1 | c.581A>G (p.Lys194Arg) n.831A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622621T>G | CA370299745 | RP1L1 | c.581A>C (p.Lys194Thr) n.831A>C | |
| 8 | g.10622621T= | CA1763389507 | RP1L1 | c.581A= (p.Lys194=) n.831A= | |
| 8 | g.10622622T>A | CA370299747 | RP1L1 | c.580A>T (p.Lys194Ter) n.830A>T | |
| 8 | g.10622622T>C | CA370299748 | RP1L1 | c.580A>G (p.Lys194Glu) n.830A>G | |
| 8 | g.10622622T>G | CA370299749 | RP1L1 | c.580A>C (p.Lys194Gln) n.830A>C | |
| 8 | g.10622623C>A | CA459619868 | RP1L1 | c.579G>T (p.Val193=) n.829G>T | |
| 8 | g.10622623C= | CA1763389509 | RP1L1 | c.579G= (p.Val193=) n.829G= | |
| 8 | g.10622623C>G | CA459619869 | RP1L1 | c.579G>C (p.Val193=) n.829G>C | |
| 8 | g.10622623C>T | CA171954592 | RP1L1 | c.579G>A (p.Val193=) n.829G>A | dbSNP |
| 8 | g.10622624A>C | CA370299750 | RP1L1 | c.578T>G (p.Val193Gly) n.828T>G | |
| 8 | g.10622624A>G | CA370299751 | RP1L1 | c.578T>C (p.Val193Ala) n.828T>C | |
| 8 | g.10622624A>T | CA370299752 | RP1L1 | c.578T>A (p.Val193Glu) n.828T>A | |
| 8 | g.10622625C>A | CA370299753 | RP1L1 | c.577G>T (p.Val193Leu) n.827G>T | |
| 8 | g.10622625C= | CA1763389510 | RP1L1 | c.577G= (p.Val193=) n.827G= | |
| 8 | g.10622625C>G | CA370299754 | RP1L1 | c.577G>C (p.Val193Leu) n.827G>C | |
| 8 | g.10622625C>T | CA370299756 | RP1L1 | c.577G>A (p.Val193Met) n.827G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622626A= | CA1763389511 | RP1L1 | c.576T= (p.Pro192=) n.826T= | |
| 8 | g.10622626A>C | CA459619871 | RP1L1 | c.576T>G (p.Pro192=) n.826T>G | |
| 8 | g.10622626A>G | CA4625638 | RP1L1 | c.576T>C (p.Pro192=) n.826T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622626A>T | CA459619872 | RP1L1 | c.576T>A (p.Pro192=) n.826T>A | |
| 8 | g.10622627G>A | CA370299760 | RP1L1 | c.575C>T (p.Pro192Leu) n.825C>T | |
| 8 | g.10622627G>C | CA370299759 | RP1L1 | c.575C>G (p.Pro192Arg) n.825C>G | ClinVar |
| 8 | g.10622627G= | CA1763389518 | RP1L1 | c.575C= (p.Pro192=) n.825C= | |
| 8 | g.10622627G>T | CA370299758 | RP1L1 | c.575C>A (p.Pro192His) n.825C>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622628G>A | CA370299762 | RP1L1 | c.574C>T (p.Pro192Ser) n.824C>T | COSMIC |
| 8 | g.10622628G>C | CA370299763 | RP1L1 | c.574C>G (p.Pro192Ala) n.824C>G | |
| 8 | g.10622628G>T | CA370299767 | RP1L1 | c.574C>A (p.Pro192Thr) n.824C>A | |
| 8 | g.10622629A= | CA1763389520 | RP1L1 | c.573T= (p.Phe191=) n.823T= | |
| 8 | g.10622629A>C | CA370299768 | RP1L1 | c.573T>G (p.Phe191Leu) n.823T>G | |
| 8 | g.10622629A>G | CA459619876 | RP1L1 | c.573T>C (p.Phe191=) n.823T>C | |
| 8 | g.10622629A>T | CA4625639 | RP1L1 | c.573T>A (p.Phe191Leu) n.823T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622630A>C | CA370299771 | RP1L1 | c.572T>G (p.Phe191Cys) n.822T>G | ClinVar gnomAD v4 |
| 8 | g.10622630A>G | CA370299772 | RP1L1 | c.572T>C (p.Phe191Ser) n.822T>C | |
| 8 | g.10622630A>T | CA370299773 | RP1L1 | c.572T>A (p.Phe191Tyr) n.822T>A | |
| 8 | g.10622631A= | CA1763389521 | RP1L1 | c.571T= (p.Phe191=) n.821T= | |
| 8 | g.10622631A>C | CA370299774 | RP1L1 | c.571T>G (p.Phe191Val) n.821T>G | |
| 8 | g.10622631A>G | CA370299775 | RP1L1 | c.571T>C (p.Phe191Leu) n.821T>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622631A>T | CA370299776 | RP1L1 | c.571T>A (p.Phe191Ile) n.821T>A | |
| 8 | g.10622632G>A | CA459619881 | RP1L1 | c.570C>T (p.Arg190=) n.820C>T | dbSNP gnomAD v4 |
| 8 | g.10622632G>C | CA4625640 | RP1L1 | c.570C>G (p.Arg190=) n.820C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622632G= | CA1763389522 | RP1L1 | c.570C= (p.Arg190=) n.820C= | |
| 8 | g.10622632G>T | CA459619882 | RP1L1 | c.570C>A (p.Arg190=) n.820C>A | |
| 8 | g.10622633C>A | CA370299780 | RP1L1 | c.569G>T (p.Arg190Leu) n.819G>T | |
| 8 | g.10622633C= | CA1763389526 | RP1L1 | c.569G= (p.Arg190=) n.819G= | |
| 8 | g.10622633C>G | CA370299778 | RP1L1 | c.569G>C (p.Arg190Pro) n.819G>C | |
| 8 | g.10622633C>T | CA4625641 | RP1L1 | c.569G>A (p.Arg190His) n.819G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622634G>A | CA4625642 | RP1L1 | c.568C>T (p.Arg190Cys) n.818C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622634G>C | CA370299782 | RP1L1 | c.568C>G (p.Arg190Gly) n.818C>G | |
| 8 | g.10622634G= | CA1763389531 | RP1L1 | c.568C= (p.Arg190=) n.818C= | |
| 8 | g.10622634G>T | CA10626782 | RP1L1 | c.568C>A (p.Arg190Ser) n.818C>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622635C>A | CA459619889 | RP1L1 | c.567G>T (p.Leu189=) n.817G>T | |
| 8 | g.10622635C= | CA1763389534 | RP1L1 | c.567G= (p.Leu189=) n.817G= | |
| 8 | g.10622635C>G | CA459619887 | RP1L1 | c.567G>C (p.Leu189=) n.817G>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622635C>T | CA459619888 | RP1L1 | c.567G>A (p.Leu189=) n.817G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622635_10622638delinsCAGG | CA1763389535 | RP1L1 | c.564_567delinsCCTG (p.Leu188=) n.814_817delinsCCTG | |
| 8 | g.10622700_10622701insCGTCTGCTGGAGGCGAGGGTCCAGGAGATCTGAGGCTTTGCCGAGAAAGGCGGCCAGGTTCCTAGTATTCCTGTGACTGAGAACCAC | CA580030539 | RP1L1 | c.567_568insGACCCTCGCCTCCAGCAGACGGTGGTTCTCAGTCACAGGAATACTAGGAACCTGGCCGCCTTTCTCGGCAAAGCCTCAGATCTCCTG (p.Leu189_Arg190insAspProArgLeuGlnGlnThrValValLeuSerHisArgAsnThrArgAsnLeuAlaAlaPheLeuGlyLysAlaSerAspLeuLeu) n.817_818insGACCCTCGCCTCCAGCAGACGGTGGTTCTCAGTCACAGGAATACTAGGAACCTGGCCGCCTTTCTCGGCAAAGCCTCAGATCTCCTG | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622637_10622723dup | CA2580077999 | RP1L1 | c.481_567dup (p.Leu189_Arg190insAspProArgLeuGlnGlnThrValValLeuSerHisArgAsnThrArgAsnLeuAlaAlaPheLeuGlyLysAlaSerAspLeuLeu) n.731_817dup | ClinVar |
| 8 | g.10622636A= | CA1763389536 | RP1L1 | c.566T= (p.Leu189=) n.816T= | |
| 8 | g.10622636A>C | CA370299785 | RP1L1 | c.566T>G (p.Leu189Arg) n.816T>G | |
| 8 | g.10622636A>G | CA370299786 | RP1L1 | c.566T>C (p.Leu189Pro) n.816T>C | dbSNP |
| 8 | g.10622636A>T | CA370299787 | RP1L1 | c.566T>A (p.Leu189Gln) n.816T>A | |
| 8 | g.10622638_10622640del | CA1110648051 | RP1L1 | c.564_566del (p.Leu189del) n.814_816del | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622637G>A | CA459619890 | RP1L1 | c.565C>T (p.Leu189=) n.815C>T | dbSNP gnomAD v4 COSMIC |
| 8 | g.10622637G>C | CA370299789 | RP1L1 | c.565C>G (p.Leu189Val) n.815C>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.10622637G= | CA1763389538 | RP1L1 | c.565C= (p.Leu189=) n.815C= | |
| 8 | g.10622637G>T | CA370299790 | RP1L1 | c.565C>A (p.Leu189Met) n.815C>A | |
| 8 | g.10622638G>A | CA171954602 | RP1L1 | c.564C>T (p.Leu188=) n.814C>T | dbSNP gnomAD v4 |
| 8 | g.10622638G>C | CA459619893 | RP1L1 | c.564C>G (p.Leu188=) n.814C>G | gnomAD v4 |
| 8 | g.10622638G= | CA1763389539 | RP1L1 | c.564C= (p.Leu188=) n.814C= | |
| 8 | g.10622638G>T | CA459619894 | RP1L1 | c.564C>A (p.Leu188=) n.814C>A | ClinVar gnomAD v4 |
| 8 | g.10622639A>C | CA370299791 | RP1L1 | c.563T>G (p.Leu188Arg) n.813T>G | |
| 8 | g.10622639A>G | CA370299792 | RP1L1 | c.563T>C (p.Leu188Pro) n.813T>C | gnomAD v4 |
| 8 | g.10622639A>T | CA370299793 | RP1L1 | c.563T>A (p.Leu188His) n.813T>A | |
| 8 | g.10622640G>A | CA370299794 | RP1L1 | c.562C>T (p.Leu188Phe) n.812C>T | |
| 8 | g.10622640G>C | CA370299796 | RP1L1 | c.562C>G (p.Leu188Val) n.812C>G | |
| 8 | g.10622640G>T | CA370299797 | RP1L1 | c.562C>A (p.Leu188Ile) n.812C>A | |
| 8 | g.10622641A>C | CA370299799 | RP1L1 | c.561T>G (p.Asp187Glu) n.811T>G | |
| 8 | g.10622641A>G | CA459619895 | RP1L1 | c.561T>C (p.Asp187=) n.811T>C | gnomAD v4 |
| 8 | g.10622641A>T | CA370299801 | RP1L1 | c.561T>A (p.Asp187Glu) n.811T>A | |
| 8 | g.10622642T>A | CA370299802 | RP1L1 | c.560A>T (p.Asp187Val) n.810A>T | |
| 8 | g.10622642T>C | CA370299804 | RP1L1 | c.560A>G (p.Asp187Gly) n.810A>G | |
| 8 | g.10622642T>G | CA370299805 | RP1L1 | c.560A>C (p.Asp187Ala) n.810A>C | |
| 8 | g.10622643C>A | CA4625643 | RP1L1 | c.559G>T (p.Asp187Tyr) n.809G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622643C= | CA1763389543 | RP1L1 | c.559G= (p.Asp187=) n.809G= | |
| 8 | g.10622643C>G | CA370299808 | RP1L1 | c.559G>C (p.Asp187His) n.809G>C | |
| 8 | g.10622643C>T | CA370299810 | RP1L1 | c.559G>A (p.Asp187Asn) n.809G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622644T>A | CA459619897 | RP1L1 | c.558A>T (p.Ser186=) n.808A>T | |
| 8 | g.10622644T>C | CA171954605 | RP1L1 | c.558A>G (p.Ser186=) n.808A>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622644T>G | CA459619900 | RP1L1 | c.558A>C (p.Ser186=) n.808A>C | |
| 8 | g.10622644T= | CA1763389544 | RP1L1 | c.558A= (p.Ser186=) n.808A= | |
| 8 | g.10622645G>A | CA370299811 | RP1L1 | c.557C>T (p.Ser186Leu) n.807C>T | gnomAD v4 |
| 8 | g.10622645G>C | CA370299813 | RP1L1 | c.557C>G (p.Ser186Ter) n.807C>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622645G= | CA1763389545 | RP1L1 | c.557C= (p.Ser186=) n.807C= | |
| 8 | g.10622645G>T | CA370299814 | RP1L1 | c.557C>A (p.Ser186Ter) n.807C>A | |
| 8 | g.10622646A= | CA1763389547 | RP1L1 | c.556T= (p.Ser186=) n.806T= | |
| 8 | g.10622646A>C | CA4625644 | RP1L1 | c.556T>G (p.Ser186Ala) n.806T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622646A>G | CA4625645 | RP1L1 | c.556T>C (p.Ser186Pro) n.806T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622646A>T | CA370299815 | RP1L1 | c.556T>A (p.Ser186Thr) n.806T>A | dbSNP |
| 8 | g.10622647G>A | CA459619902 | RP1L1 | c.555C>T (p.Ala185=) n.805C>T | gnomAD v4 |
| 8 | g.10622647G>C | CA459619903 | RP1L1 | c.555C>G (p.Ala185=) n.805C>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622647G= | CA1763389552 | RP1L1 | c.555C= (p.Ala185=) n.805C= | |
| 8 | g.10622647G>T | CA459619905 | RP1L1 | c.555C>A (p.Ala185=) n.805C>A | |
| 8 | g.10622648G>A | CA4625646 | RP1L1 | c.554C>T (p.Ala185Val) n.804C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622648G>C | CA370299818 | RP1L1 | c.554C>G (p.Ala185Gly) n.804C>G | |
| 8 | g.10622648G= | CA1763389556 | RP1L1 | c.554C= (p.Ala185=) n.804C= | |
| 8 | g.10622648G>T | CA370299817 | RP1L1 | c.554C>A (p.Ala185Asp) n.804C>A | |
| 8 | g.10622649C>A | CA370299821 | RP1L1 | c.553G>T (p.Ala185Ser) n.803G>T | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622649C= | CA1763389558 | RP1L1 | c.553G= (p.Ala185=) n.803G= | |
| 8 | g.10622649C>G | CA370299820 | RP1L1 | c.553G>C (p.Ala185Pro) n.803G>C | |
| 8 | g.10622649C>T | CA171954612 | RP1L1 | c.553G>A (p.Ala185Thr) n.803G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622650T>A | CA370299822 | RP1L1 | c.552A>T (p.Lys184Asn) n.802A>T | |
| 8 | g.10622650T>C | CA459619912 | RP1L1 | c.552A>G (p.Lys184=) n.802A>G | |
| 8 | g.10622650T>G | CA370299823 | RP1L1 | c.552A>C (p.Lys184Asn) n.802A>C | |
| 8 | g.10622651T>A | CA370299825 | RP1L1 | c.551A>T (p.Lys184Ile) n.801A>T | |
| 8 | g.10622651T>C | CA370299827 | RP1L1 | c.551A>G (p.Lys184Arg) n.801A>G | |
| 8 | g.10622651T>G | CA370299829 | RP1L1 | c.551A>C (p.Lys184Thr) n.801A>C | |
| 8 | g.10622652T>A | CA370299831 | RP1L1 | c.550A>T (p.Lys184Ter) n.800A>T | |
| 8 | g.10622652T>C | CA370299833 | RP1L1 | c.550A>G (p.Lys184Glu) n.800A>G | |
| 8 | g.10622652T>G | CA370299835 | RP1L1 | c.550A>C (p.Lys184Gln) n.800A>C | |
| 8 | g.10622653G>A | CA4625647 | RP1L1 | c.549C>T (p.Gly183=) n.799C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622653G>C | CA171954614 | RP1L1 | c.549C>G (p.Gly183=) n.799C>G | dbSNP gnomAD v4 |
| 8 | g.10622653G= | CA1763389562 | RP1L1 | c.549C= (p.Gly183=) n.799C= | |
| 8 | g.10622653G>T | CA459620060 | RP1L1 | c.549C>A (p.Gly183=) n.799C>A | |
| 8 | g.10622654C>A | CA370299837 | RP1L1 | c.548G>T (p.Gly183Val) n.798G>T | ClinVar |
| 8 | g.10622654C>G | CA370299839 | RP1L1 | c.548G>C (p.Gly183Ala) n.798G>C | |
| 8 | g.10622654C>T | CA370299840 | RP1L1 | c.548G>A (p.Gly183Asp) n.798G>A | |
| 8 | g.10622655C>A | CA4625649 | RP1L1 | c.547G>T (p.Gly183Cys) n.797G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10622655C= | CA1763389564 | RP1L1 | c.547G= (p.Gly183=) n.797G= | |
| 8 | g.10622655C>G | CA370299841 | RP1L1 | c.547G>C (p.Gly183Arg) n.797G>C | |
| 8 | g.10622655C>T | CA4625648 | RP1L1 | c.547G>A (p.Gly183Ser) n.797G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10622656G>A | CA4625650 | RP1L1 | c.546C>T (p.Leu182=) n.796C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622656G>C | CA459620064 | RP1L1 | c.546C>G (p.Leu182=) n.796C>G | |
| 8 | g.10622656G= | CA1763389566 | RP1L1 | c.546C= (p.Leu182=) n.796C= | |
| 8 | g.10622656G>T | CA459620066 | RP1L1 | c.546C>A (p.Leu182=) n.796C>A | gnomAD v4 |
| 8 | g.10622657A= | CA1763389568 | RP1L1 | c.545T= (p.Leu182=) n.795T= | |
| 8 | g.10622657A>C | CA370299845 | RP1L1 | c.545T>G (p.Leu182Arg) n.795T>G | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622657A>G | CA370299846 | RP1L1 | c.545T>C (p.Leu182Pro) n.795T>C | |
| 8 | g.10622657A>T | CA370299847 | RP1L1 | c.545T>A (p.Leu182His) n.795T>A | |
| 8 | g.10622659_10622670del | CA2695208894 | RP1L1 | c.534_545del (p.Ala179_Leu182del) n.784_795del | |
| 8 | g.10622658G>A | CA370299848 | RP1L1 | c.544C>T (p.Leu182Phe) n.794C>T | |
| 8 | g.10622658G>C | CA370299849 | RP1L1 | c.544C>G (p.Leu182Val) n.794C>G | |
| 8 | g.10622658G>T | CA370299850 | RP1L1 | c.544C>A (p.Leu182Ile) n.794C>A | gnomAD v4 |
| 8 | g.10622659A>C | CA370299851 | RP1L1 | c.543T>G (p.Phe181Leu) n.793T>G | |
| 8 | g.10622659A>G | CA459620071 | RP1L1 | c.543T>C (p.Phe181=) n.793T>C | gnomAD v4 |
| 8 | g.10622659A>T | CA370299852 | RP1L1 | c.543T>A (p.Phe181Leu) n.793T>A | |
| 8 | g.10622661dup | CA2579091970 | RP1L1 | c.543dup (p.Leu182SerfsTer?) n.793dup | |
| 8 | g.10622660A= | CA1763389570 | RP1L1 | c.542T= (p.Phe181=) n.792T= | |
| 8 | g.10622660A>C | CA370299854 | RP1L1 | c.542T>G (p.Phe181Cys) n.792T>G | |
| 8 | g.10622660A>G | CA370299855 | RP1L1 | c.542T>C (p.Phe181Ser) n.792T>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622660A>T | CA370299857 | RP1L1 | c.542T>A (p.Phe181Tyr) n.792T>A | |
| 8 | g.10622661A= | CA1763389571 | RP1L1 | c.541T= (p.Phe181=) n.791T= | |
| 8 | g.10622661A>C | CA370299860 | RP1L1 | c.541T>G (p.Phe181Val) n.791T>G | |
| 8 | g.10622661A>G | CA370299859 | RP1L1 | c.541T>C (p.Phe181Leu) n.791T>C | |
| 8 | g.10622661A>T | CA4625651 | RP1L1 | c.541T>A (p.Phe181Ile) n.791T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622662G>A | CA4625652 | RP1L1 | c.540C>T (p.Ala180=) n.790C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622662G>C | CA459620076 | RP1L1 | c.540C>G (p.Ala180=) n.790C>G | |
| 8 | g.10622662G= | CA1763389575 | RP1L1 | c.540C= (p.Ala180=) n.790C= | |
| 8 | g.10622662G>T | CA459620078 | RP1L1 | c.540C>A (p.Ala180=) n.790C>A | |
| 8 | g.10622663G>A | CA370299862 | RP1L1 | c.539C>T (p.Ala180Val) n.789C>T | ClinVar gnomAD v4 |
| 8 | g.10622663G>C | CA370299864 | RP1L1 | c.539C>G (p.Ala180Gly) n.789C>G | |
| 8 | g.10622663G>T | CA370299865 | RP1L1 | c.539C>A (p.Ala180Asp) n.789C>A | |
| 8 | g.10622664C>A | CA4625654 | RP1L1 | c.538G>T (p.Ala180Ser) n.788G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622664C= | CA1763389579 | RP1L1 | c.538G= (p.Ala180=) n.788G= | |
| 8 | g.10622664C>G | CA370299868 | RP1L1 | c.538G>C (p.Ala180Pro) n.788G>C | gnomAD v4 |
| 8 | g.10622664C>T | CA4625653 | RP1L1 | c.538G>A (p.Ala180Thr) n.788G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10622665G>A | CA4625655 | RP1L1 | c.537C>T (p.Ala179=) n.787C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10622665G>C | CA459620079 | RP1L1 | c.537C>G (p.Ala179=) n.787C>G | ClinVar gnomAD v4 |
| 8 | g.10622665G= | CA1763389582 | RP1L1 | c.537C= (p.Ala179=) n.787C= | |
| 8 | g.10622665G>T | CA459620080 | RP1L1 | c.537C>A (p.Ala179=) n.787C>A | COSMIC |
| 8 | g.10622666G>A | CA370299872 | RP1L1 | c.536C>T (p.Ala179Val) n.786C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10622666G>C | CA370299874 | RP1L1 | c.536C>G (p.Ala179Gly) n.786C>G | |
| 8 | g.10622666G= | CA1763389585 | RP1L1 | c.536C= (p.Ala179=) n.786C= | |
| 8 | g.10622666G>T | CA370299873 | RP1L1 | c.536C>A (p.Ala179Asp) n.786C>A | |
| 8 | g.10622667C>A | CA370299876 | RP1L1 | c.535G>T (p.Ala179Ser) n.785G>T | |
| 8 | g.10622667C= | CA1763389586 | RP1L1 | c.535G= (p.Ala179=) n.785G= | |
| 8 | g.10622667C>G | CA370299877 | RP1L1 | c.535G>C (p.Ala179Pro) n.785G>C | |
| 8 | g.10622667C>T | CA370299878 | RP1L1 | c.535G>A (p.Ala179Thr) n.785G>A | dbSNP gnomAD v4 |
| 8 | g.10622668C>A | CA171954626 | RP1L1 | c.534G>T (p.Leu178=) n.784G>T | dbSNP |
| 8 | g.10622668C= | CA1763389590 | RP1L1 | c.534G= (p.Leu178=) n.784G= | |
| 8 | g.10622668C>G | CA459620082 | RP1L1 | c.534G>C (p.Leu178=) n.784G>C | dbSNP |
| 8 | g.10622668C>T | CA459620083 | RP1L1 | c.534G>A (p.Leu178=) n.784G>A | gnomAD v4 |
| 8 | g.10622669A= | CA1763389593 | RP1L1 | c.533T= (p.Leu178=) n.783T= | |
| 8 | g.10622669A>C | CA370299881 | RP1L1 | c.533T>G (p.Leu178Arg) n.783T>G | |
| 8 | g.10622669A>G | CA370299883 | RP1L1 | c.533T>C (p.Leu178Pro) n.783T>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10622669A>T | CA370299882 | RP1L1 | c.533T>A (p.Leu178Gln) n.783T>A | |
| 8 | g.10622670G>A | CA459620086 | RP1L1 | c.532C>T (p.Leu178=) n.782C>T | |
| 8 | g.10622670G>C | CA4625656 | RP1L1 | c.532C>G (p.Leu178Val) n.782C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622670G= | CA1763389597 | RP1L1 | c.532C= (p.Leu178=) n.782C= | |
| 8 | g.10622670G>T | CA370299885 | RP1L1 | c.532C>A (p.Leu178Met) n.782C>A | |
| 8 | g.10622671G>A | CA459620088 | RP1L1 | c.531C>T (p.Asn177=) n.781C>T | |
| 8 | g.10622671G>C | CA370299887 | RP1L1 | c.531C>G (p.Asn177Lys) n.781C>G | |
| 8 | g.10622671G>T | CA370299888 | RP1L1 | c.531C>A (p.Asn177Lys) n.781C>A | gnomAD v4 |
| 8 | g.10622672T>A | CA370299890 | RP1L1 | c.530A>T (p.Asn177Ile) n.780A>T | |
| 8 | g.10622672T>C | CA370299891 | RP1L1 | c.530A>G (p.Asn177Ser) n.780A>G | gnomAD v4 |
| 8 | g.10622672T>G | CA370299892 | RP1L1 | c.530A>C (p.Asn177Thr) n.780A>C | |
| 8 | g.10622673T>A | CA171954628 | RP1L1 | c.529A>T (p.Asn177Tyr) n.779A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10622673T>C | CA370299895 | RP1L1 | c.529A>G (p.Asn177Asp) n.779A>G | |
| 8 | g.10622673T>G | CA370299896 | RP1L1 | c.529A>C (p.Asn177His) n.779A>C | |
| 8 | g.10622673T= | CA1763389600 | RP1L1 | c.529A= (p.Asn177=) n.779A= | |
| 8 | g.10622674C>A | CA171954630 | RP1L1 | c.528G>T (p.Arg176Ser) n.778G>T | dbSNP |
| 8 | g.10622674C= | CA1763389602 | RP1L1 | c.528G= (p.Arg176=) n.778G= | |
| 8 | g.10622674C>G | CA370299898 | RP1L1 | c.528G>C (p.Arg176Ser) n.778G>C | ClinVar |
| 8 | g.10622674C>T | CA459620090 | RP1L1 | c.528G>A (p.Arg176=) n.778G>A | |
| 8 | g.10622675C>A | CA370299902 | RP1L1 | c.527G>T (p.Arg176Met) n.777G>T | |
| 8 | g.10622675C= | CA1763389607 | RP1L1 | c.527G= (p.Arg176=) n.777G= | |
| 8 | g.10622675C>G | CA370299901 | RP1L1 | c.527G>C (p.Arg176Thr) n.777G>C | |
| 8 | g.10622675C>T | CA370299899 | RP1L1 | c.527G>A (p.Arg176Lys) n.777G>A | dbSNP |
| 8 | g.10622676T>A | CA370299904 | RP1L1 | c.526A>T (p.Arg176Trp) n.776A>T | |
| 8 | g.10622676T>C | CA4625657 | RP1L1 | c.526A>G (p.Arg176Gly) n.776A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10622676T>G | CA459620093 | RP1L1 | c.526A>C (p.Arg176=) n.776A>C | |
| 8 | g.10622676T= | CA1763389610 | RP1L1 | c.526A= (p.Arg176=) n.776A= |