| 8 | g.10612666C>A | CA370295522 | RP1L1 | c.1432G>T (p.Asp478Tyr)
| |
| 8 | g.10612666C>G | CA370295523 | RP1L1 | c.1432G>C (p.Asp478His)
| |
| 8 | g.10612666C>T | CA370295524 | RP1L1 | c.1432G>A (p.Asp478Asn)
| COSMIC |
| 8 | g.10612667C>A | CA370295525 | RP1L1 | c.1431G>T (p.Glu477Asp)
| |
| 8 | g.10612667C= | CA1763378844 | RP1L1 | c.1431G= (p.Glu477=)
| |
| 8 | g.10612667C>G | CA370295526 | RP1L1 | c.1431G>C (p.Glu477Asp)
| |
| 8 | g.10612667C>T | CA4625175 | RP1L1 | c.1431G>A (p.Glu477=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612668T>A | CA370295527 | RP1L1 | c.1430A>T (p.Glu477Val)
| |
| 8 | g.10612668T>C | CA4625176 | RP1L1 | c.1430A>G (p.Glu477Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612668T>G | CA370295528 | RP1L1 | c.1430A>C (p.Glu477Ala)
| |
| 8 | g.10612668T= | CA1763378847 | RP1L1 | c.1430A= (p.Glu477=)
| |
| 8 | g.10612669C>A | CA370295531 | RP1L1 | c.1429G>T (p.Glu477Ter)
| |
| 8 | g.10612669C>G | CA370295529 | RP1L1 | c.1429G>C (p.Glu477Gln)
| |
| 8 | g.10612669C>T | CA370295530 | RP1L1 | c.1429G>A (p.Glu477Lys)
| gnomAD v4 |
| 8 | g.10612670C>A | CA459619653 | RP1L1 | c.1428G>T (p.Pro476=)
| |
| 8 | g.10612670C= | CA1763378849 | RP1L1 | c.1428G= (p.Pro476=)
| |
| 8 | g.10612670C>G | CA459619655 | RP1L1 | c.1428G>C (p.Pro476=)
| |
| 8 | g.10612670C>T | CA4625177 | RP1L1 | c.1428G>A (p.Pro476=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612671G>A | CA4625178 | RP1L1 | c.1427C>T (p.Pro476Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612671G>C | CA370295532 | RP1L1 | c.1427C>G (p.Pro476Arg)
| |
| 8 | g.10612671G= | CA1763378851 | RP1L1 | c.1427C= (p.Pro476=)
| |
| 8 | g.10612671G>T | CA370295533 | RP1L1 | c.1427C>A (p.Pro476Gln)
| gnomAD v4 |
| 8 | g.10612674del | CA2686113712 | RP1L1 | c.1427del (p.Pro476ArgfsTer14)
| gnomAD v4 |
| 8 | g.10612672G>A | CA370295534 | RP1L1 | c.1426C>T (p.Pro476Ser)
| gnomAD v4 |
| 8 | g.10612672G>C | CA370295535 | RP1L1 | c.1426C>G (p.Pro476Ala)
| gnomAD v4 |
| 8 | g.10612672G>T | CA370295536 | RP1L1 | c.1426C>A (p.Pro476Thr)
| gnomAD v4 |
| 8 | g.10612673G>A | CA459619660 | RP1L1 | c.1425C>T (p.Thr475=)
| |
| 8 | g.10612673G>C | CA459619665 | RP1L1 | c.1425C>G (p.Thr475=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612673G= | CA1763378852 | RP1L1 | c.1425C= (p.Thr475=)
| |
| 8 | g.10612673G>T | CA459619663 | RP1L1 | c.1425C>A (p.Thr475=)
| dbSNP gnomAD v4 |
| 8 | g.10612674G>A | CA370295537 | RP1L1 | c.1424C>T (p.Thr475Ile)
| gnomAD v4 |
| 8 | g.10612674G>C | CA370295538 | RP1L1 | c.1424C>G (p.Thr475Ser)
| |
| 8 | g.10612674G>T | CA370295539 | RP1L1 | c.1424C>A (p.Thr475Asn)
| gnomAD v4 |
| 8 | g.10612675T>A | CA4625179 | RP1L1 | c.1423A>T (p.Thr475Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612675T>C | CA370295541 | RP1L1 | c.1423A>G (p.Thr475Ala)
| gnomAD v4 |
| 8 | g.10612675T>G | CA370295540 | RP1L1 | c.1423A>C (p.Thr475Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612675T= | CA1763378854 | RP1L1 | c.1423A= (p.Thr475=)
| |
| 8 | g.10612676C>A | CA370295542 | RP1L1 | c.1422G>T (p.Arg474Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612676C= | CA1763378855 | RP1L1 | c.1422G= (p.Arg474=)
| |
| 8 | g.10612676C>G | CA370295543 | RP1L1 | c.1422G>C (p.Arg474Ser)
| gnomAD v4 |
| 8 | g.10612676C>T | CA459619671 | RP1L1 | c.1422G>A (p.Arg474=)
| |
| 8 | g.10612677C>A | CA370295544 | RP1L1 | c.1421G>T (p.Arg474Met)
| gnomAD v4 |
| 8 | g.10612677C= | CA1763378856 | RP1L1 | c.1421G= (p.Arg474=)
| |
| 8 | g.10612677C>G | CA4625180 | RP1L1 | c.1421G>C (p.Arg474Thr)
| dbSNP ExAC gnomAD v2 |
| 8 | g.10612677C>T | CA370295545 | RP1L1 | c.1421G>A (p.Arg474Lys)
| gnomAD v4 |
| 8 | g.10612678T>A | CA370295546 | RP1L1 | c.1420A>T (p.Arg474Trp)
| |
| 8 | g.10612678T>C | CA4625181 | RP1L1 | c.1420A>G (p.Arg474Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612678T>G | CA459619673 | RP1L1 | c.1420A>C (p.Arg474=)
| |
| 8 | g.10612678T= | CA1763378859 | RP1L1 | c.1420A= (p.Arg474=)
| |
| 8 | g.10612679G>A | CA459619674 | RP1L1 | c.1419C>T (p.Pro473=)
| dbSNP |
| 8 | g.10612679G>C | CA459619677 | RP1L1 | c.1419C>G (p.Pro473=)
| |
| 8 | g.10612679G= | CA1763378861 | RP1L1 | c.1419C= (p.Pro473=)
| |
| 8 | g.10612679G>T | CA459619679 | RP1L1 | c.1419C>A (p.Pro473=)
| gnomAD v4 |
| 8 | g.10612679_10612680delinsCT | CA645559066 | RP1L1 | c.1418_1419delinsAG (p.Pro473Gln)
| COSMIC |
| 8 | g.10612682del | CA2686113746 | RP1L1 | c.1419del (p.Arg474GlyfsTer16)
| gnomAD v4 |
| 8 | g.10612680G>A | CA370295547 | RP1L1 | c.1418C>T (p.Pro473Leu)
| gnomAD v4 |
| 8 | g.10612680G>C | CA370295548 | RP1L1 | c.1418C>G (p.Pro473Arg)
| gnomAD v4 |
| 8 | g.10612680G>T | CA370295549 | RP1L1 | c.1418C>A (p.Pro473His)
| gnomAD v4 |
| 8 | g.10612681G>A | CA370295550 | RP1L1 | c.1417C>T (p.Pro473Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612681G>C | CA370295551 | RP1L1 | c.1417C>G (p.Pro473Ala)
| gnomAD v4 |
| 8 | g.10612681G= | CA1763378862 | RP1L1 | c.1417C= (p.Pro473=)
| |
| 8 | g.10612681G>T | CA370295552 | RP1L1 | c.1417C>A (p.Pro473Thr)
| dbSNP gnomAD v4 |
| 8 | g.10612682G>A | CA4625182 | RP1L1 | c.1416C>T (p.Cys472=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612682G>C | CA370295553 | RP1L1 | c.1416C>G (p.Cys472Trp)
| |
| 8 | g.10612682G= | CA1763378864 | RP1L1 | c.1416C= (p.Cys472=)
| |
| 8 | g.10612682G>T | CA370295554 | RP1L1 | c.1416C>A (p.Cys472Ter)
| gnomAD v4 |
| 8 | g.10612683C>A | CA370295555 | RP1L1 | c.1415G>T (p.Cys472Phe)
| |
| 8 | g.10612683C= | CA1763378866 | RP1L1 | c.1415G= (p.Cys472=)
| |
| 8 | g.10612683C>G | CA370295556 | RP1L1 | c.1415G>C (p.Cys472Ser)
| gnomAD v4 |
| 8 | g.10612683C>T | CA370295557 | RP1L1 | c.1415G>A (p.Cys472Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612684A>C | CA370295558 | RP1L1 | c.1414T>G (p.Cys472Gly)
| |
| 8 | g.10612684A>G | CA370295559 | RP1L1 | c.1414T>C (p.Cys472Arg)
| |
| 8 | g.10612684A>T | CA370295560 | RP1L1 | c.1414T>A (p.Cys472Ser)
| |
| 8 | g.10612685G>A | CA459619686 | RP1L1 | c.1413C>T (p.Cys471=)
| |
| 8 | g.10612685G>C | CA370295561 | RP1L1 | c.1413C>G (p.Cys471Trp)
| |
| 8 | g.10612685G>T | CA370295562 | RP1L1 | c.1413C>A (p.Cys471Ter)
| gnomAD v4 |
| 8 | g.10612686C>A | CA370295563 | RP1L1 | c.1412G>T (p.Cys471Phe)
| |
| 8 | g.10612686C>G | CA370295564 | RP1L1 | c.1412G>C (p.Cys471Ser)
| |
| 8 | g.10612686C>T | CA370295565 | RP1L1 | c.1412G>A (p.Cys471Tyr)
| gnomAD v4 |
| 8 | g.10612686_10612689delinsCAGG | CA1763378868 | RP1L1 | c.1409_1412delinsCCTG (p.Ser470=)
| |
| 8 | g.10612687A= | CA1763378869 | RP1L1 | c.1411T= (p.Cys471=)
| |
| 8 | g.10612687A>C | CA370295568 | RP1L1 | c.1411T>G (p.Cys471Gly)
| |
| 8 | g.10612687A>G | CA370295567 | RP1L1 | c.1411T>C (p.Cys471Arg)
| |
| 8 | g.10612687A>T | CA370295566 | RP1L1 | c.1411T>A (p.Cys471Ser)
| |
| 8 | g.10612691_10612693del | CA4625183 | RP1L1 | c.1409_1411del (p.Ser470del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612688G>A | CA4625185 | RP1L1 | c.1410C>T (p.Ser470=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612688G>C | CA459619690 | RP1L1 | c.1410C>G (p.Ser470=)
| |
| 8 | g.10612688G= | CA1763378872 | RP1L1 | c.1410C= (p.Ser470=)
| |
| 8 | g.10612688G>T | CA459619691 | RP1L1 | c.1410C>A (p.Ser470=)
| |
| 8 | g.10612688_10612702dup | CA4625184 | RP1L1 | c.1396_1410dup (p.Ser470_Cys471insGluProGluSerSer)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612689G>A | CA370295569 | RP1L1 | c.1409C>T (p.Ser470Phe)
| dbSNP gnomAD v4 |
| 8 | g.10612689G>C | CA370295571 | RP1L1 | c.1409C>G (p.Ser470Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612689G= | CA1763378874 | RP1L1 | c.1409C= (p.Ser470=)
| |
| 8 | g.10612689G>T | CA370295570 | RP1L1 | c.1409C>A (p.Ser470Tyr)
| gnomAD v4 |
| 8 | g.10612690A>C | CA370295572 | RP1L1 | c.1408T>G (p.Ser470Ala)
| |
| 8 | g.10612690A>G | CA370295573 | RP1L1 | c.1408T>C (p.Ser470Pro)
| gnomAD v4 |
| 8 | g.10612690A>T | CA370295574 | RP1L1 | c.1408T>A (p.Ser470Thr)
| |
| 8 | g.10612691G>A | CA459619697 | RP1L1 | c.1407C>T (p.Ser469=)
| |
| 8 | g.10612691G>C | CA459619698 | RP1L1 | c.1407C>G (p.Ser469=)
| |
| 8 | g.10612691G>T | CA459619696 | RP1L1 | c.1407C>A (p.Ser469=)
| gnomAD v4 |
| 8 | g.10612692G>A | CA370295575 | RP1L1 | c.1406C>T (p.Ser469Phe)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.10612692G>C | CA370295576 | RP1L1 | c.1406C>G (p.Ser469Cys)
| |
| 8 | g.10612692G= | CA1763378875 | RP1L1 | c.1406C= (p.Ser469=)
| |
| 8 | g.10612692G>T | CA4625186 | RP1L1 | c.1406C>A (p.Ser469Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612693A= | CA1763378877 | RP1L1 | c.1405T= (p.Ser469=)
| |
| 8 | g.10612693A>C | CA370295577 | RP1L1 | c.1405T>G (p.Ser469Ala)
| |
| 8 | g.10612693A>G | CA4625187 | RP1L1 | c.1405T>C (p.Ser469Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612693A>T | CA370295578 | RP1L1 | c.1405T>A (p.Ser469Thr)
| |
| 8 | g.10612694C>A | CA370295579 | RP1L1 | c.1404G>T (p.Glu468Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612694C= | CA1763378879 | RP1L1 | c.1404G= (p.Glu468=)
| |
| 8 | g.10612694C>G | CA4625188 | RP1L1 | c.1404G>C (p.Glu468Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612694C>T | CA459619702 | RP1L1 | c.1404G>A (p.Glu468=)
| gnomAD v4 |
| 8 | g.10612695T>A | CA370295582 | RP1L1 | c.1403A>T (p.Glu468Val)
| gnomAD v4 |
| 8 | g.10612695T>C | CA370295581 | RP1L1 | c.1403A>G (p.Glu468Gly)
| |
| 8 | g.10612695T>G | CA370295580 | RP1L1 | c.1403A>C (p.Glu468Ala)
| dbSNP gnomAD v4 |
| 8 | g.10612695T= | CA1763378881 | RP1L1 | c.1403A= (p.Glu468=)
| |
| 8 | g.10612696C>A | CA370295583 | RP1L1 | c.1402G>T (p.Glu468Ter)
| gnomAD v4 |
| 8 | g.10612696C>G | CA370295584 | RP1L1 | c.1402G>C (p.Glu468Gln)
| |
| 8 | g.10612696C>T | CA370295585 | RP1L1 | c.1402G>A (p.Glu468Lys)
| |
| 8 | g.10612697T>A | CA459619708 | RP1L1 | c.1401A>T (p.Pro467=)
| |
| 8 | g.10612697T>C | CA459619709 | RP1L1 | c.1401A>G (p.Pro467=)
| gnomAD v4 |
| 8 | g.10612697T>G | CA459619710 | RP1L1 | c.1401A>C (p.Pro467=)
| |
| 8 | g.10612698G>A | CA171947724 | RP1L1 | c.1400C>T (p.Pro467Leu)
| dbSNP |
| 8 | g.10612698G>C | CA370295586 | RP1L1 | c.1400C>G (p.Pro467Arg)
| |
| 8 | g.10612698G= | CA1763378883 | RP1L1 | c.1400C= (p.Pro467=)
| |
| 8 | g.10612698G>T | CA370295587 | RP1L1 | c.1400C>A (p.Pro467Gln)
| gnomAD v4 |
| 8 | g.10612699G>A | CA4625189 | RP1L1 | c.1399C>T (p.Pro467Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612699G>C | CA370295588 | RP1L1 | c.1399C>G (p.Pro467Ala)
| gnomAD v4 |
| 8 | g.10612699G= | CA1763378885 | RP1L1 | c.1399C= (p.Pro467=)
| |
| 8 | g.10612699G>T | CA370295589 | RP1L1 | c.1399C>A (p.Pro467Thr)
| gnomAD v4 |
| 8 | g.10612700C>A | CA370295590 | RP1L1 | c.1398G>T (p.Glu466Asp)
| gnomAD v4 |
| 8 | g.10612700C= | CA1763378887 | RP1L1 | c.1398G= (p.Glu466=)
| |
| 8 | g.10612700C>G | CA370295591 | RP1L1 | c.1398G>C (p.Glu466Asp)
| |
| 8 | g.10612700C>T | CA459619718 | RP1L1 | c.1398G>A (p.Glu466=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612701T>A | CA370295594 | RP1L1 | c.1397A>T (p.Glu466Val)
| |
| 8 | g.10612701T>C | CA370295593 | RP1L1 | c.1397A>G (p.Glu466Gly)
| gnomAD v4 |
| 8 | g.10612701T>G | CA370295592 | RP1L1 | c.1397A>C (p.Glu466Ala)
| |
| 8 | g.10612702C>A | CA370295595 | RP1L1 | c.1396G>T (p.Glu466Ter)
| |
| 8 | g.10612702C= | CA1763378889 | RP1L1 | c.1396G= (p.Glu466=)
| |
| 8 | g.10612702C>G | CA370295596 | RP1L1 | c.1396G>C (p.Glu466Gln)
| COSMIC |
| 8 | g.10612702C>T | CA370295597 | RP1L1 | c.1396G>A (p.Glu466Lys)
| dbSNP gnomAD v4 |
| 8 | g.10612703C>A | CA459619723 | RP1L1 | c.1395G>T (p.Ser465=)
| |
| 8 | g.10612703C= | CA1763378891 | RP1L1 | c.1395G= (p.Ser465=)
| |
| 8 | g.10612703C>G | CA459619724 | RP1L1 | c.1395G>C (p.Ser465=)
| gnomAD v4 |
| 8 | g.10612703C>T | CA4625190 | RP1L1 | c.1395G>A (p.Ser465=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612704G>A | CA4625191 | RP1L1 | c.1394C>T (p.Ser465Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612704G>C | CA370295598 | RP1L1 | c.1394C>G (p.Ser465Trp)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612704G= | CA1763378894 | RP1L1 | c.1394C= (p.Ser465=)
| |
| 8 | g.10612704G>T | CA370295599 | RP1L1 | c.1394C>A (p.Ser465Ter)
| gnomAD v4 COSMIC |
| 8 | g.10612705A>C | CA370295600 | RP1L1 | c.1393T>G (p.Ser465Ala)
| |
| 8 | g.10612705A>G | CA370295601 | RP1L1 | c.1393T>C (p.Ser465Pro)
| |
| 8 | g.10612705A>T | CA370295602 | RP1L1 | c.1393T>A (p.Ser465Thr)
| |
| 8 | g.10612706G>A | CA459619733 | RP1L1 | c.1392C>T (p.Gly464=)
| gnomAD v4 |
| 8 | g.10612706G>C | CA459619735 | RP1L1 | c.1392C>G (p.Gly464=)
| gnomAD v4 |
| 8 | g.10612706G>T | CA459619731 | RP1L1 | c.1392C>A (p.Gly464=)
| gnomAD v4 |
| 8 | g.10612707C>A | CA370295603 | RP1L1 | c.1391G>T (p.Gly464Val)
| |
| 8 | g.10612707C= | CA1763378896 | RP1L1 | c.1391G= (p.Gly464=)
| |
| 8 | g.10612707C>G | CA370295604 | RP1L1 | c.1391G>C (p.Gly464Ala)
| |
| 8 | g.10612707C>T | CA4625192 | RP1L1 | c.1391G>A (p.Gly464Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612708C>A | CA370295607 | RP1L1 | c.1390G>T (p.Gly464Cys)
| |
| 8 | g.10612708C= | CA1763378898 | RP1L1 | c.1390G= (p.Gly464=)
| |
| 8 | g.10612708C>G | CA370295605 | RP1L1 | c.1390G>C (p.Gly464Arg)
| |
| 8 | g.10612708C>T | CA370295606 | RP1L1 | c.1390G>A (p.Gly464Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612709C>A | CA370295608 | RP1L1 | c.1389G>T (p.Glu463Asp)
| gnomAD v4 |
| 8 | g.10612709C= | CA1763378900 | RP1L1 | c.1389G= (p.Glu463=)
| |
| 8 | g.10612709C>G | CA370295609 | RP1L1 | c.1389G>C (p.Glu463Asp)
| dbSNP gnomAD v4 |
| 8 | g.10612709C>T | CA459619741 | RP1L1 | c.1389G>A (p.Glu463=)
| |
| 8 | g.10612710T>A | CA370295610 | RP1L1 | c.1388A>T (p.Glu463Val)
| |
| 8 | g.10612710T>C | CA370295611 | RP1L1 | c.1388A>G (p.Glu463Gly)
| |
| 8 | g.10612710T>G | CA4625193 | RP1L1 | c.1388A>C (p.Glu463Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612710T= | CA1763378902 | RP1L1 | c.1388A= (p.Glu463=)
| |
| 8 | g.10612711C>A | CA370295612 | RP1L1 | c.1387G>T (p.Glu463Ter)
| dbSNP gnomAD v4 COSMIC |
| 8 | g.10612711C= | CA1763378904 | RP1L1 | c.1387G= (p.Glu463=)
| |
| 8 | g.10612711C>G | CA370295613 | RP1L1 | c.1387G>C (p.Glu463Gln)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612711C>T | CA4625194 | RP1L1 | c.1387G>A (p.Glu463Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612712G>A | CA4625195 | RP1L1 | c.1386C>T (p.Pro462=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612712G>C | CA4625197 | RP1L1 | c.1386C>G (p.Pro462=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612712G= | CA1763378909 | RP1L1 | c.1386C= (p.Pro462=)
| |
| 8 | g.10612712G>T | CA4625196 | RP1L1 | c.1386C>A (p.Pro462=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612715del | CA2686113821 | RP1L1 | c.1386del (p.Glu463ArgfsTer27)
| gnomAD v4 |
| 8 | g.10612713G>A | CA370295616 | RP1L1 | c.1385C>T (p.Pro462Leu)
| gnomAD v4 |
| 8 | g.10612713G>C | CA370295615 | RP1L1 | c.1385C>G (p.Pro462Arg)
| |
| 8 | g.10612713G>T | CA370295614 | RP1L1 | c.1385C>A (p.Pro462His)
| gnomAD v4 |
| 8 | g.10612714G>A | CA370295617 | RP1L1 | c.1384C>T (p.Pro462Ser)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612714G>C | CA370295619 | RP1L1 | c.1384C>G (p.Pro462Ala)
| |
| 8 | g.10612714G= | CA1763378911 | RP1L1 | c.1384C= (p.Pro462=)
| |
| 8 | g.10612714G>T | CA370295618 | RP1L1 | c.1384C>A (p.Pro462Thr)
| gnomAD v4 |
| 8 | g.10612715G>A | CA459619758 | RP1L1 | c.1383C>T (p.Leu461=)
| dbSNP gnomAD v2 |
| 8 | g.10612715G>C | CA459619756 | RP1L1 | c.1383C>G (p.Leu461=)
| |
| 8 | g.10612715G= | CA1763378913 | RP1L1 | c.1383C= (p.Leu461=)
| |
| 8 | g.10612715G>T | CA459619755 | RP1L1 | c.1383C>A (p.Leu461=)
| gnomAD v4 |
| 8 | g.10612716A>C | CA370295620 | RP1L1 | c.1382T>G (p.Leu461Arg)
| |
| 8 | g.10612716A>G | CA370295621 | RP1L1 | c.1382T>C (p.Leu461Pro)
| |
| 8 | g.10612716A>T | CA370295622 | RP1L1 | c.1382T>A (p.Leu461His)
| |
| 8 | g.10612717G>A | CA370295623 | RP1L1 | c.1381C>T (p.Leu461Phe)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612717G>C | CA370295624 | RP1L1 | c.1381C>G (p.Leu461Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612717G= | CA1763378915 | RP1L1 | c.1381C= (p.Leu461=)
| |
| 8 | g.10612717G>T | CA370295625 | RP1L1 | c.1381C>A (p.Leu461Ile)
| |
| 8 | g.10612718G>A | CA459619764 | RP1L1 | c.1380C>T (p.Gly460=)
| dbSNP gnomAD v4 |
| 8 | g.10612718G>C | CA459619761 | RP1L1 | c.1380C>G (p.Gly460=)
| |
| 8 | g.10612718G= | CA1763378917 | RP1L1 | c.1380C= (p.Gly460=)
| |
| 8 | g.10612718G>T | CA459619763 | RP1L1 | c.1380C>A (p.Gly460=)
| gnomAD v4 |
| 8 | g.10612719C>A | CA370295626 | RP1L1 | c.1379G>T (p.Gly460Val)
| |
| 8 | g.10612719C= | CA1763378919 | RP1L1 | c.1379G= (p.Gly460=)
| |
| 8 | g.10612719C>G | CA370295627 | RP1L1 | c.1379G>C (p.Gly460Ala)
| |
| 8 | g.10612719C>T | CA370295628 | RP1L1 | c.1379G>A (p.Gly460Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612720C>A | CA370295629 | RP1L1 | c.1378G>T (p.Gly460Cys)
| gnomAD v4 |
| 8 | g.10612720C= | CA1763378921 | RP1L1 | c.1378G= (p.Gly460=)
| |
| 8 | g.10612720C>G | CA370295630 | RP1L1 | c.1378G>C (p.Gly460Arg)
| |
| 8 | g.10612720C>T | CA4625198 | RP1L1 | c.1378G>A (p.Gly460Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612721G>A | CA171947737 | RP1L1 | c.1377C>T (p.Thr459=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612721G>C | CA459619769 | RP1L1 | c.1377C>G (p.Thr459=)
| gnomAD v4 |
| 8 | g.10612721G= | CA1763378924 | RP1L1 | c.1377C= (p.Thr459=)
| |
| 8 | g.10612721G>T | CA459619770 | RP1L1 | c.1377C>A (p.Thr459=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612722G>A | CA4625200 | RP1L1 | c.1376C>T (p.Thr459Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612722G>C | CA370295631 | RP1L1 | c.1376C>G (p.Thr459Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612722G= | CA1763378927 | RP1L1 | c.1376C= (p.Thr459=)
| |
| 8 | g.10612722G>T | CA4625199 | RP1L1 | c.1376C>A (p.Thr459Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612723T>A | CA370295632 | RP1L1 | c.1375A>T (p.Thr459Ser)
| |
| 8 | g.10612723T>C | CA370295633 | RP1L1 | c.1375A>G (p.Thr459Ala)
| |
| 8 | g.10612723T>G | CA370295634 | RP1L1 | c.1375A>C (p.Thr459Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612723T= | CA1763378929 | RP1L1 | c.1375A= (p.Thr459=)
| |
| 8 | g.10612724G>A | CA459619775 | RP1L1 | c.1374C>T (p.Ser458=)
| gnomAD v4 |
| 8 | g.10612724G>C | CA370295635 | RP1L1 | c.1374C>G (p.Ser458Arg)
| |
| 8 | g.10612724G>T | CA370295636 | RP1L1 | c.1374C>A (p.Ser458Arg)
| gnomAD v4 |
| 8 | g.10612725C>A | CA370295637 | RP1L1 | c.1373G>T (p.Ser458Ile)
| ClinVar gnomAD v4 COSMIC |
| 8 | g.10612725C>G | CA370295638 | RP1L1 | c.1373G>C (p.Ser458Thr)
| |
| 8 | g.10612725C>T | CA370295639 | RP1L1 | c.1373G>A (p.Ser458Asn)
| gnomAD v4 |
| 8 | g.10612726T>A | CA370295640 | RP1L1 | c.1372A>T (p.Ser458Cys)
| |
| 8 | g.10612726T>C | CA171947740 | RP1L1 | c.1372A>G (p.Ser458Gly)
| dbSNP |
| 8 | g.10612726T>G | CA370295641 | RP1L1 | c.1372A>C (p.Ser458Arg)
| |
| 8 | g.10612726T= | CA1763378931 | RP1L1 | c.1372A= (p.Ser458=)
| |
| 8 | g.10612727G>A | CA459619782 | RP1L1 | c.1371C>T (p.Ser457=)
| gnomAD v4 |
| 8 | g.10612727G>C | CA459619783 | RP1L1 | c.1371C>G (p.Ser457=)
| |
| 8 | g.10612727G>T | CA459619784 | RP1L1 | c.1371C>A (p.Ser457=)
| |
| 8 | g.10612728G>A | CA4625201 | RP1L1 | c.1370C>T (p.Ser457Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612728G>C | CA370295643 | RP1L1 | c.1370C>G (p.Ser457Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612728G= | CA1763378933 | RP1L1 | c.1370C= (p.Ser457=)
| |
| 8 | g.10612728G>T | CA370295642 | RP1L1 | c.1370C>A (p.Ser457Tyr)
| |
| 8 | g.10612729A>C | CA370295644 | RP1L1 | c.1369T>G (p.Ser457Ala)
| |
| 8 | g.10612729A>G | CA370295645 | RP1L1 | c.1369T>C (p.Ser457Pro)
| |
| 8 | g.10612729A>T | CA370295646 | RP1L1 | c.1369T>A (p.Ser457Thr)
| |
| 8 | g.10612730G>A | CA4625202 | RP1L1 | c.1368C>T (p.Ala456=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612730G>C | CA459619789 | RP1L1 | c.1368C>G (p.Ala456=)
| |
| 8 | g.10612730G= | CA1763378934 | RP1L1 | c.1368C= (p.Ala456=)
| |
| 8 | g.10612730G>T | CA459619790 | RP1L1 | c.1368C>A (p.Ala456=)
| gnomAD v4 |
| 8 | g.10612731G>A | CA4625203 | RP1L1 | c.1367C>T (p.Ala456Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612731G>C | CA4625204 | RP1L1 | c.1367C>G (p.Ala456Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612731G= | CA1763378936 | RP1L1 | c.1367C= (p.Ala456=)
| |
| 8 | g.10612731G>T | CA370295647 | RP1L1 | c.1367C>A (p.Ala456Asp)
| dbSNP gnomAD v4 |
| 8 | g.10612731_10612741dup | CA2686113854 | RP1L1 | c.1357_1367dup (p.Ser457ProfsTer?)
| gnomAD v4 |
| 8 | g.10612732C>A | CA370295648 | RP1L1 | c.1366G>T (p.Ala456Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612732C= | CA1763378938 | RP1L1 | c.1366G= (p.Ala456=)
| |
| 8 | g.10612732C>G | CA370295649 | RP1L1 | c.1366G>C (p.Ala456Pro)
| |
| 8 | g.10612732C>T | CA4625205 | RP1L1 | c.1366G>A (p.Ala456Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612733T>A | CA459619794 | RP1L1 | c.1365A>T (p.Pro455=)
| |
| 8 | g.10612733T>C | CA459619795 | RP1L1 | c.1365A>G (p.Pro455=)
| dbSNP gnomAD v4 |
| 8 | g.10612733T>G | CA459619793 | RP1L1 | c.1365A>C (p.Pro455=)
| gnomAD v4 |
| 8 | g.10612733T= | CA1763378941 | RP1L1 | c.1365A= (p.Pro455=)
| |
| 8 | g.10612733_10612734delinsTG | CA1763378940 | RP1L1 | c.1364_1365delinsCA (p.Pro455=)
| |
| 8 | g.10612734G>A | CA4625207 | RP1L1 | c.1364C>T (p.Pro455Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612734G>C | CA370295650 | RP1L1 | c.1364C>G (p.Pro455Arg)
| |
| 8 | g.10612734G= | CA1763378942 | RP1L1 | c.1364C= (p.Pro455=)
| |
| 8 | g.10612734G>T | CA370295651 | RP1L1 | c.1364C>A (p.Pro455Gln)
| |
| 8 | g.10612736del | CA4625206 | RP1L1 | c.1364del (p.Pro455GlnfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612735G>A | CA370295652 | RP1L1 | c.1363C>T (p.Pro455Ser)
| COSMIC |
| 8 | g.10612735G>C | CA370295653 | RP1L1 | c.1363C>G (p.Pro455Ala)
| |
| 8 | g.10612735G= | CA1763378944 | RP1L1 | c.1363C= (p.Pro455=)
| |
| 8 | g.10612735G>T | CA171947748 | RP1L1 | c.1363C>A (p.Pro455Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612736G>A | CA459619801 | RP1L1 | c.1362C>T (p.Ser454=)
| dbSNP gnomAD v4 |
| 8 | g.10612736G>C | CA171947750 | RP1L1 | c.1362C>G (p.Ser454Arg)
| dbSNP |
| 8 | g.10612736G= | CA1763378946 | RP1L1 | c.1362C= (p.Ser454=)
| |
| 8 | g.10612736G>T | CA4625208 | RP1L1 | c.1362C>A (p.Ser454Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612737C>A | CA370295654 | RP1L1 | c.1361G>T (p.Ser454Ile)
| gnomAD v4 |
| 8 | g.10612737C= | CA1763378948 | RP1L1 | c.1361G= (p.Ser454=)
| |
| 8 | g.10612737C>G | CA370295655 | RP1L1 | c.1361G>C (p.Ser454Thr)
| |
| 8 | g.10612737C>T | CA4625209 | RP1L1 | c.1361G>A (p.Ser454Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612738T>A | CA370295656 | RP1L1 | c.1360A>T (p.Ser454Cys)
| |
| 8 | g.10612738T>C | CA370295657 | RP1L1 | c.1360A>G (p.Ser454Gly)
| |
| 8 | g.10612738T>G | CA370295658 | RP1L1 | c.1360A>C (p.Ser454Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612738T= | CA1763378949 | RP1L1 | c.1360A= (p.Ser454=)
| |
| 8 | g.10612739G>A | CA459619808 | RP1L1 | c.1359C>T (p.Ala453=)
| gnomAD v4 |
| 8 | g.10612739G>C | CA459619809 | RP1L1 | c.1359C>G (p.Ala453=)
| |
| 8 | g.10612739G= | CA1763378951 | RP1L1 | c.1359C= (p.Ala453=)
| |
| 8 | g.10612739G>T | CA459619810 | RP1L1 | c.1359C>A (p.Ala453=)
| dbSNP gnomAD v4 |
| 8 | g.10612740G>A | CA4625210 | RP1L1 | c.1358C>T (p.Ala453Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612740G>C | CA370295659 | RP1L1 | c.1358C>G (p.Ala453Gly)
| gnomAD v4 |
| 8 | g.10612740G= | CA1763378952 | RP1L1 | c.1358C= (p.Ala453=)
| |
| 8 | g.10612740G>T | CA370295660 | RP1L1 | c.1358C>A (p.Ala453Asp)
| gnomAD v4 |
| 8 | g.10612741C>A | CA370295661 | RP1L1 | c.1357G>T (p.Ala453Ser)
| |
| 8 | g.10612741C= | CA1763378953 | RP1L1 | c.1357G= (p.Ala453=)
| |
| 8 | g.10612741C>G | CA370295662 | RP1L1 | c.1357G>C (p.Ala453Pro)
| gnomAD v4 |
| 8 | g.10612741C>T | CA4625211 | RP1L1 | c.1357G>A (p.Ala453Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612742A= | CA1763378954 | RP1L1 | c.1356T= (p.Ser452=)
| |
| 8 | g.10612742A>C | CA370295664 | RP1L1 | c.1356T>G (p.Ser452Arg)
| |
| 8 | g.10612742A>G | CA459619814 | RP1L1 | c.1356T>C (p.Ser452=)
| |
| 8 | g.10612742A>T | CA370295663 | RP1L1 | c.1356T>A (p.Ser452Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612743C>A | CA370295666 | RP1L1 | c.1355G>T (p.Ser452Ile)
| |
| 8 | g.10612743C= | CA1763378956 | RP1L1 | c.1355G= (p.Ser452=)
| |
| 8 | g.10612743C>G | CA370295665 | RP1L1 | c.1355G>C (p.Ser452Thr)
| |
| 8 | g.10612743C>T | CA370295667 | RP1L1 | c.1355G>A (p.Ser452Asn)
| dbSNP |
| 8 | g.10612744T>A | CA370295668 | RP1L1 | c.1354A>T (p.Ser452Cys)
| |
| 8 | g.10612744T>C | CA370295669 | RP1L1 | c.1354A>G (p.Ser452Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612744T>G | CA370295670 | RP1L1 | c.1354A>C (p.Ser452Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612744T= | CA1763378958 | RP1L1 | c.1354A= (p.Ser452=)
| |
| 8 | g.10612745G>A | CA171947752 | RP1L1 | c.1353C>T (p.Asp451=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612745G>C | CA4625212 | RP1L1 | c.1353C>G (p.Asp451Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612745G= | CA1763378960 | RP1L1 | c.1353C= (p.Asp451=)
| |
| 8 | g.10612745G>T | CA370295671 | RP1L1 | c.1353C>A (p.Asp451Glu)
| gnomAD v4 |
| 8 | g.10612746T>A | CA370295672 | RP1L1 | c.1352A>T (p.Asp451Val)
| |
| 8 | g.10612746T>C | CA370295673 | RP1L1 | c.1352A>G (p.Asp451Gly)
| gnomAD v4 |
| 8 | g.10612746T>G | CA370295674 | RP1L1 | c.1352A>C (p.Asp451Ala)
| |
| 8 | g.10612747C>A | CA370295675 | RP1L1 | c.1351G>T (p.Asp451Tyr)
| |
| 8 | g.10612747C= | CA1763378962 | RP1L1 | c.1351G= (p.Asp451=)
| |
| 8 | g.10612747C>G | CA370295676 | RP1L1 | c.1351G>C (p.Asp451His)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612747C>T | CA370295677 | RP1L1 | c.1351G>A (p.Asp451Asn)
| |
| 8 | g.10612748C>A | CA4625213 | RP1L1 | c.1350G>T (p.Gln450His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612748C= | CA1763378964 | RP1L1 | c.1350G= (p.Gln450=)
| |
| 8 | g.10612748C>G | CA370295678 | RP1L1 | c.1350G>C (p.Gln450His)
| |
| 8 | g.10612748C>T | CA4625214 | RP1L1 | c.1350G>A (p.Gln450=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612749T>A | CA370295679 | RP1L1 | c.1349A>T (p.Gln450Leu)
| |
| 8 | g.10612749T>C | CA370295680 | RP1L1 | c.1349A>G (p.Gln450Arg)
| gnomAD v4 COSMIC |
| 8 | g.10612749T>G | CA370295681 | RP1L1 | c.1349A>C (p.Gln450Pro)
| |
| 8 | g.10612750G>A | CA370295682 | RP1L1 | c.1348C>T (p.Gln450Ter)
| |
| 8 | g.10612750G>C | CA370295683 | RP1L1 | c.1348C>G (p.Gln450Glu)
| gnomAD v4 |
| 8 | g.10612750G>T | CA370295684 | RP1L1 | c.1348C>A (p.Gln450Lys)
| gnomAD v4 |
| 8 | g.10612751G>A | CA459619822 | RP1L1 | c.1347C>T (p.Ser449=)
| gnomAD v4 |
| 8 | g.10612751G>C | CA370295685 | RP1L1 | c.1347C>G (p.Ser449Arg)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612751G= | CA1763378965 | RP1L1 | c.1347C= (p.Ser449=)
| |
| 8 | g.10612751G>T | CA370295686 | RP1L1 | c.1347C>A (p.Ser449Arg)
| gnomAD v4 |
| 8 | g.10612752C>A | CA370295687 | RP1L1 | c.1346G>T (p.Ser449Ile)
| |
| 8 | g.10612752C= | CA1763378967 | RP1L1 | c.1346G= (p.Ser449=)
| |
| 8 | g.10612752C>G | CA4625215 | RP1L1 | c.1346G>C (p.Ser449Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612752C>T | CA370295688 | RP1L1 | c.1346G>A (p.Ser449Asn)
| |
| 8 | g.10612753T>A | CA370295690 | RP1L1 | c.1345A>T (p.Ser449Cys)
| |
| 8 | g.10612753T>C | CA370295691 | RP1L1 | c.1345A>G (p.Ser449Gly)
| gnomAD v4 |
| 8 | g.10612753T>G | CA370295689 | RP1L1 | c.1345A>C (p.Ser449Arg)
| |
| 8 | g.10612754G>A | CA4625216 | RP1L1 | c.1344C>T (p.Cys448=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612754G>C | CA370295692 | RP1L1 | c.1344C>G (p.Cys448Trp)
| |
| 8 | g.10612754G= | CA1763378969 | RP1L1 | c.1344C= (p.Cys448=)
| |
| 8 | g.10612754G>T | CA370295693 | RP1L1 | c.1344C>A (p.Cys448Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612755C>A | CA370295694 | RP1L1 | c.1343G>T (p.Cys448Phe)
| |
| 8 | g.10612755C>G | CA370295695 | RP1L1 | c.1343G>C (p.Cys448Ser)
| |
| 8 | g.10612755C>T | CA370295696 | RP1L1 | c.1343G>A (p.Cys448Tyr)
| gnomAD v4 |
| 8 | g.10612756A= | CA1763378971 | RP1L1 | c.1342T= (p.Cys448=)
| |
| 8 | g.10612756A>C | CA370295697 | RP1L1 | c.1342T>G (p.Cys448Gly)
| |
| 8 | g.10612756A>G | CA4625217 | RP1L1 | c.1342T>C (p.Cys448Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612756A>T | CA370295698 | RP1L1 | c.1342T>A (p.Cys448Ser)
| |
| 8 | g.10612757T>A | CA370295699 | RP1L1 | c.1341A>T (p.Arg447Ser)
| dbSNP gnomAD v4 |
| 8 | g.10612757T>C | CA171947757 | RP1L1 | c.1341A>G (p.Arg447=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612757T>G | CA370295700 | RP1L1 | c.1341A>C (p.Arg447Ser)
| |
| 8 | g.10612757T= | CA1763378974 | RP1L1 | c.1341A= (p.Arg447=)
| |
| 8 | g.10612758C>A | CA370295701 | RP1L1 | c.1340G>T (p.Arg447Ile)
| |
| 8 | g.10612758C= | CA1763378976 | RP1L1 | c.1340G= (p.Arg447=)
| |
| 8 | g.10612758C>G | CA10629878 | RP1L1 | c.1340G>C (p.Arg447Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612758C>T | CA370295702 | RP1L1 | c.1340G>A (p.Arg447Lys)
| |
| 8 | g.10612759T>A | CA370295703 | RP1L1 | c.1339A>T (p.Arg447Ter)
| |
| 8 | g.10612759T>C | CA4625218 | RP1L1 | c.1339A>G (p.Arg447Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612759T>G | CA459619826 | RP1L1 | c.1339A>C (p.Arg447=)
| |
| 8 | g.10612759T= | CA1763378978 | RP1L1 | c.1339A= (p.Arg447=)
| |
| 8 | g.10612760C>A | CA370295704 | RP1L1 | c.1338G>T (p.Glu446Asp)
| |
| 8 | g.10612760C>G | CA370295705 | RP1L1 | c.1338G>C (p.Glu446Asp)
| |
| 8 | g.10612760C>T | CA459619827 | RP1L1 | c.1338G>A (p.Glu446=)
| gnomAD v4 |
| 8 | g.10612761T>A | CA370295706 | RP1L1 | c.1337A>T (p.Glu446Val)
| |
| 8 | g.10612761T>C | CA370295707 | RP1L1 | c.1337A>G (p.Glu446Gly)
| |
| 8 | g.10612761T>G | CA370295708 | RP1L1 | c.1337A>C (p.Glu446Ala)
| |
| 8 | g.10612762C>A | CA370295709 | RP1L1 | c.1336G>T (p.Glu446Ter)
| |
| 8 | g.10612762C>G | CA370295710 | RP1L1 | c.1336G>C (p.Glu446Gln)
| |
| 8 | g.10612762C>T | CA370295711 | RP1L1 | c.1336G>A (p.Glu446Lys)
| gnomAD v4 COSMIC |
| 8 | g.10612763C>A | CA171947761 | RP1L1 | c.1335G>T (p.Arg445Ser)
| dbSNP |
| 8 | g.10612763C= | CA1763378980 | RP1L1 | c.1335G= (p.Arg445=)
| |
| 8 | g.10612763C>G | CA370295712 | RP1L1 | c.1335G>C (p.Arg445Ser)
| |
| 8 | g.10612763C>T | CA459619828 | RP1L1 | c.1335G>A (p.Arg445=)
| |
| 8 | g.10612764C>A | CA370295713 | RP1L1 | c.1334G>T (p.Arg445Met)
| |
| 8 | g.10612764C>G | CA370295714 | RP1L1 | c.1334G>C (p.Arg445Thr)
| |
| 8 | g.10612764C>T | CA370295715 | RP1L1 | c.1334G>A (p.Arg445Lys)
| |
| 8 | g.10612765T>A | CA370295717 | RP1L1 | c.1333A>T (p.Arg445Trp)
| |
| 8 | g.10612765T>C | CA370295716 | RP1L1 | c.1333A>G (p.Arg445Gly)
| |
| 8 | g.10612765T>G | CA459619829 | RP1L1 | c.1333A>C (p.Arg445=)
| |
| 8 | g.10612766C>A | CA4625219 | RP1L1 | c.1332G>T (p.Gly444=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612766C= | CA1763378982 | RP1L1 | c.1332G= (p.Gly444=)
| |
| 8 | g.10612766C>G | CA459619831 | RP1L1 | c.1332G>C (p.Gly444=)
| |
| 8 | g.10612766C>T | CA459619830 | RP1L1 | c.1332G>A (p.Gly444=)
| gnomAD v4 COSMIC |
