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 |
|---|---|---|---|---|---|
| 14 | g.100883117G>A | CA266905219 | RTL1 | c.1672C>T (p.Pro558Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883117G>C | CA390995678 | RTL1 | c.1672C>G (p.Pro558Ala) | |
| 14 | g.100883117G= | CA2159074850 | RTL1 | c.1672C= (p.Pro558=) | |
| 14 | g.100883117G>T | CA7347282 | RTL1 | c.1672C>A (p.Pro558Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883118G>A | CA488181304 | RTL1 | c.1671C>T (p.His557=) | gnomAD v4 |
| 14 | g.100883118G>C | CA390995679 | RTL1 | c.1671C>G (p.His557Gln) | |
| 14 | g.100883118G>T | CA390995680 | RTL1 | c.1671C>A (p.His557Gln) | |
| 14 | g.100883119T>A | CA390995683 | RTL1 | c.1670A>T (p.His557Leu) | |
| 14 | g.100883119T>C | CA390995682 | RTL1 | c.1670A>G (p.His557Arg) | |
| 14 | g.100883119T>G | CA390995681 | RTL1 | c.1670A>C (p.His557Pro) | |
| 14 | g.100883120G>A | CA390995684 | RTL1 | c.1669C>T (p.His557Tyr) | |
| 14 | g.100883120G>C | CA390995686 | RTL1 | c.1669C>G (p.His557Asp) | |
| 14 | g.100883120G= | CA2159074852 | RTL1 | c.1669C= (p.His557=) | |
| 14 | g.100883120G>T | CA390995685 | RTL1 | c.1669C>A (p.His557Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883121T>A | CA488181310 | RTL1 | c.1668A>T (p.Pro556=) | |
| 14 | g.100883121T>C | CA488181311 | RTL1 | c.1668A>G (p.Pro556=) | |
| 14 | g.100883121T>G | CA488181312 | RTL1 | c.1668A>C (p.Pro556=) | |
| 14 | g.100883122G>A | CA390995687 | RTL1 | c.1667C>T (p.Pro556Leu) | |
| 14 | g.100883122G>C | CA390995688 | RTL1 | c.1667C>G (p.Pro556Arg) | |
| 14 | g.100883122G>T | CA390995689 | RTL1 | c.1667C>A (p.Pro556Gln) | gnomAD v4 |
| 14 | g.100883123G>A | CA390995690 | RTL1 | c.1666C>T (p.Pro556Ser) | |
| 14 | g.100883123G>C | CA390995691 | RTL1 | c.1666C>G (p.Pro556Ala) | |
| 14 | g.100883123G>T | CA390995692 | RTL1 | c.1666C>A (p.Pro556Thr) | gnomAD v4 |
| 14 | g.100883124C>A | CA488181321 | RTL1 | c.1665G>T (p.Leu555=) | |
| 14 | g.100883124C= | CA2159074855 | RTL1 | c.1665G= (p.Leu555=) | |
| 14 | g.100883124C>G | CA7347283 | RTL1 | c.1665G>C (p.Leu555=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100883124C>T | CA488181326 | RTL1 | c.1665G>A (p.Leu555=) | |
| 14 | g.100883125A>C | CA390995693 | RTL1 | c.1664T>G (p.Leu555Arg) | |
| 14 | g.100883125A>G | CA390995694 | RTL1 | c.1664T>C (p.Leu555Pro) | |
| 14 | g.100883125A>T | CA390995695 | RTL1 | c.1664T>A (p.Leu555Gln) | |
| 14 | g.100883126G>A | CA488181327 | RTL1 | c.1663C>T (p.Leu555=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883126G>C | CA7347284 | RTL1 | c.1663C>G (p.Leu555Val) | dbSNP ExAC gnomAD v4 |
| 14 | g.100883126G= | CA2159074857 | RTL1 | c.1663C= (p.Leu555=) | |
| 14 | g.100883126G>T | CA390995696 | RTL1 | c.1663C>A (p.Leu555Met) | |
| 14 | g.100883127T>A | CA488181332 | RTL1 | c.1662A>T (p.Gly554=) | |
| 14 | g.100883127T>C | CA488181333 | RTL1 | c.1662A>G (p.Gly554=) | |
| 14 | g.100883127T>G | CA488181334 | RTL1 | c.1662A>C (p.Gly554=) | dbSNP |
| 14 | g.100883127T= | CA2159074859 | RTL1 | c.1662A= (p.Gly554=) | |
| 14 | g.100883128C>A | CA390995698 | RTL1 | c.1661G>T (p.Gly554Val) | gnomAD v4 |
| 14 | g.100883128C= | CA2159074862 | RTL1 | c.1661G= (p.Gly554=) | |
| 14 | g.100883128C>G | CA7347285 | RTL1 | c.1661G>C (p.Gly554Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883128C>T | CA390995697 | RTL1 | c.1661G>A (p.Gly554Glu) | |
| 14 | g.100883129C>A | CA390995699 | RTL1 | c.1660G>T (p.Gly554Ter) | |
| 14 | g.100883129C= | CA2159074864 | RTL1 | c.1660G= (p.Gly554=) | |
| 14 | g.100883129C>G | CA390995700 | RTL1 | c.1660G>C (p.Gly554Arg) | |
| 14 | g.100883129C>T | CA7347286 | RTL1 | c.1660G>A (p.Gly554Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883130G>A | CA7347287 | RTL1 | c.1659C>T (p.Pro553=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883130G>C | CA488181346 | RTL1 | c.1659C>G (p.Pro553=) | |
| 14 | g.100883130G= | CA2159074868 | RTL1 | c.1659C= (p.Pro553=) | |
| 14 | g.100883130G>T | CA488181348 | RTL1 | c.1659C>A (p.Pro553=) | gnomAD v4 |
| 14 | g.100883131G>A | CA390995701 | RTL1 | c.1658C>T (p.Pro553Leu) | dbSNP |
| 14 | g.100883131G>C | CA390995702 | RTL1 | c.1658C>G (p.Pro553Arg) | |
| 14 | g.100883131G= | CA2159074871 | RTL1 | c.1658C= (p.Pro553=) | |
| 14 | g.100883131G>T | CA390995703 | RTL1 | c.1658C>A (p.Pro553His) | |
| 14 | g.100883132G>A | CA390995704 | RTL1 | c.1657C>T (p.Pro553Ser) | gnomAD v4 |
| 14 | g.100883132G>C | CA390995705 | RTL1 | c.1657C>G (p.Pro553Ala) | |
| 14 | g.100883132G>T | CA390995706 | RTL1 | c.1657C>A (p.Pro553Thr) | |
| 14 | g.100883133T>A | CA488181356 | RTL1 | c.1656A>T (p.Leu552=) | |
| 14 | g.100883133T>C | CA488181354 | RTL1 | c.1656A>G (p.Leu552=) | |
| 14 | g.100883133T>G | CA7347288 | RTL1 | c.1656A>C (p.Leu552=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100883133T= | CA2159074874 | RTL1 | c.1656A= (p.Leu552=) | |
| 14 | g.100883134A= | CA2159074876 | RTL1 | c.1655T= (p.Leu552=) | |
| 14 | g.100883134A>C | CA390995709 | RTL1 | c.1655T>G (p.Leu552Arg) | |
| 14 | g.100883134A>G | CA390995708 | RTL1 | c.1655T>C (p.Leu552Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883134A>T | CA390995707 | RTL1 | c.1655T>A (p.Leu552Gln) | |
| 14 | g.100883135G>A | CA488181360 | RTL1 | c.1654C>T (p.Leu552=) | |
| 14 | g.100883135G>C | CA390995710 | RTL1 | c.1654C>G (p.Leu552Val) | |
| 14 | g.100883135G>T | CA390995711 | RTL1 | c.1654C>A (p.Leu552Ile) | |
| 14 | g.100883136C>A | CA488181361 | RTL1 | c.1653G>T (p.Leu551=) | |
| 14 | g.100883136C>G | CA488181362 | RTL1 | c.1653G>C (p.Leu551=) | |
| 14 | g.100883136C>T | CA488181364 | RTL1 | c.1653G>A (p.Leu551=) | gnomAD v4 |
| 14 | g.100883137A>C | CA390995712 | RTL1 | c.1652T>G (p.Leu551Arg) | gnomAD v4 |
| 14 | g.100883137A>G | CA390995713 | RTL1 | c.1652T>C (p.Leu551Pro) | |
| 14 | g.100883137A>T | CA390995714 | RTL1 | c.1652T>A (p.Leu551Gln) | |
| 14 | g.100883138G>A | CA488181371 | RTL1 | c.1651C>T (p.Leu551=) | COSMIC |
| 14 | g.100883138G>C | CA390995715 | RTL1 | c.1651C>G (p.Leu551Val) | |
| 14 | g.100883138G>T | CA390995716 | RTL1 | c.1651C>A (p.Leu551Met) | |
| 14 | g.100883139G>A | CA488181373 | RTL1 | c.1650C>T (p.Ser550=) | |
| 14 | g.100883139G>C | CA390995717 | RTL1 | c.1650C>G (p.Ser550Arg) | |
| 14 | g.100883139G>T | CA390995718 | RTL1 | c.1650C>A (p.Ser550Arg) | |
| 14 | g.100883140C>A | CA390995719 | RTL1 | c.1649G>T (p.Ser550Ile) | |
| 14 | g.100883140C>G | CA390995720 | RTL1 | c.1649G>C (p.Ser550Thr) | |
| 14 | g.100883140C>T | CA390995721 | RTL1 | c.1649G>A (p.Ser550Asn) | dbSNP gnomAD v4 |
| 14 | g.100883141T>A | CA390995723 | RTL1 | c.1648A>T (p.Ser550Cys) | |
| 14 | g.100883141T>C | CA390995724 | RTL1 | c.1648A>G (p.Ser550Gly) | |
| 14 | g.100883141T>G | CA390995722 | RTL1 | c.1648A>C (p.Ser550Arg) | |
| 14 | g.100883142C>A | CA390995725 | RTL1 | c.1647G>T (p.Met549Ile) | |
| 14 | g.100883142C>G | CA390995726 | RTL1 | c.1647G>C (p.Met549Ile) | gnomAD v4 |
| 14 | g.100883142C>T | CA390995727 | RTL1 | c.1647G>A (p.Met549Ile) | |
| 14 | g.100883143A= | CA2159074878 | RTL1 | c.1646T= (p.Met549=) | |
| 14 | g.100883143A>C | CA390995728 | RTL1 | c.1646T>G (p.Met549Arg) | |
| 14 | g.100883143A>G | CA390995729 | RTL1 | c.1646T>C (p.Met549Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883143A>T | CA390995730 | RTL1 | c.1646T>A (p.Met549Lys) | |
| 14 | g.100883144T>A | CA390995731 | RTL1 | c.1645A>T (p.Met549Leu) | |
| 14 | g.100883144T>C | CA390995733 | RTL1 | c.1645A>G (p.Met549Val) | |
| 14 | g.100883144T>G | CA390995732 | RTL1 | c.1645A>C (p.Met549Leu) | gnomAD v4 |
| 14 | g.100883145G>A | CA7347289 | RTL1 | c.1644C>T (p.Gly548=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100883145G>C | CA488181385 | RTL1 | c.1644C>G (p.Gly548=) | |
| 14 | g.100883145G= | CA2159074880 | RTL1 | c.1644C= (p.Gly548=) | |
| 14 | g.100883145G>T | CA488181382 | RTL1 | c.1644C>A (p.Gly548=) | |
| 14 | g.100883146C>A | CA390995734 | RTL1 | c.1643G>T (p.Gly548Val) | |
| 14 | g.100883146C>G | CA390995735 | RTL1 | c.1643G>C (p.Gly548Ala) | |
| 14 | g.100883146C>T | CA390995736 | RTL1 | c.1643G>A (p.Gly548Asp) | |
| 14 | g.100883147C>A | CA390995737 | RTL1 | c.1642G>T (p.Gly548Cys) | gnomAD v4 |
| 14 | g.100883147C= | CA2159074883 | RTL1 | c.1642G= (p.Gly548=) | |
| 14 | g.100883147C>G | CA7347290 | RTL1 | c.1642G>C (p.Gly548Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883147C>T | CA7347291 | RTL1 | c.1642G>A (p.Gly548Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.100883148G>A | CA7347292 | RTL1 | c.1641C>T (p.His547=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883148G>C | CA390995738 | RTL1 | c.1641C>G (p.His547Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883148G= | CA2159074886 | RTL1 | c.1641C= (p.His547=) | |
| 14 | g.100883148G>T | CA390995739 | RTL1 | c.1641C>A (p.His547Gln) | |
| 14 | g.100883149T>A | CA390995740 | RTL1 | c.1640A>T (p.His547Leu) | |
| 14 | g.100883149T>C | CA266905297 | RTL1 | c.1640A>G (p.His547Arg) | dbSNP gnomAD v4 |
| 14 | g.100883149T>G | CA266905307 | RTL1 | c.1640A>C (p.His547Pro) | dbSNP gnomAD v4 |
| 14 | g.100883149T= | CA2159074889 | RTL1 | c.1640A= (p.His547=) | |
| 14 | g.100883150G>A | CA390995743 | RTL1 | c.1639C>T (p.His547Tyr) | |
| 14 | g.100883150G>C | CA390995742 | RTL1 | c.1639C>G (p.His547Asp) | |
| 14 | g.100883150G>T | CA390995741 | RTL1 | c.1639C>A (p.His547Asn) | |
| 14 | g.100883151C>A | CA390995744 | RTL1 | c.1638G>T (p.Arg546Ser) | |
| 14 | g.100883151C>G | CA390995745 | RTL1 | c.1638G>C (p.Arg546Ser) | |
| 14 | g.100883151C>T | CA488181404 | RTL1 | c.1638G>A (p.Arg546=) | gnomAD v4 |
| 14 | g.100883152C>A | CA390995746 | RTL1 | c.1637G>T (p.Arg546Met) | |
| 14 | g.100883152C>G | CA390995747 | RTL1 | c.1637G>C (p.Arg546Thr) | |
| 14 | g.100883152C>T | CA390995748 | RTL1 | c.1637G>A (p.Arg546Lys) | gnomAD v4 |
| 14 | g.100883153T>A | CA390995749 | RTL1 | c.1636A>T (p.Arg546Trp) | |
| 14 | g.100883153T>C | CA390995750 | RTL1 | c.1636A>G (p.Arg546Gly) | |
| 14 | g.100883153T>G | CA488181407 | RTL1 | c.1636A>C (p.Arg546=) | |
| 14 | g.100883154C>A | CA390995751 | RTL1 | c.1635G>T (p.Glu545Asp) | |
| 14 | g.100883154C= | CA2159074892 | RTL1 | c.1635G= (p.Glu545=) | |
| 14 | g.100883154C>G | CA390995752 | RTL1 | c.1635G>C (p.Glu545Asp) | |
| 14 | g.100883154C>T | CA7347293 | RTL1 | c.1635G>A (p.Glu545=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883155T>A | CA390995753 | RTL1 | c.1634A>T (p.Glu545Val) | |
| 14 | g.100883155T>C | CA7347294 | RTL1 | c.1634A>G (p.Glu545Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100883155T>G | CA390995754 | RTL1 | c.1634A>C (p.Glu545Ala) | |
| 14 | g.100883155T= | CA2159074895 | RTL1 | c.1634A= (p.Glu545=) | |
| 14 | g.100883156C>A | CA390995755 | RTL1 | c.1633G>T (p.Glu545Ter) | |
| 14 | g.100883156C= | CA2159074900 | RTL1 | c.1633G= (p.Glu545=) | |
| 14 | g.100883156C>G | CA390995756 | RTL1 | c.1633G>C (p.Glu545Gln) | gnomAD v4 |
| 14 | g.100883156C>T | CA390995757 | RTL1 | c.1633G>A (p.Glu545Lys) | dbSNP |
| 14 | g.100883157T>A | CA488181421 | RTL1 | c.1632A>T (p.Leu544=) | |
| 14 | g.100883157T>C | CA488181423 | RTL1 | c.1632A>G (p.Leu544=) | |
| 14 | g.100883157T>G | CA488181425 | RTL1 | c.1632A>C (p.Leu544=) | |
| 14 | g.100883158A>C | CA390995759 | RTL1 | c.1631T>G (p.Leu544Arg) | |
| 14 | g.100883158A>G | CA390995760 | RTL1 | c.1631T>C (p.Leu544Pro) | |
| 14 | g.100883158A>T | CA390995761 | RTL1 | c.1631T>A (p.Leu544Gln) | |
| 14 | g.100883159G>A | CA488181437 | RTL1 | c.1630C>T (p.Leu544=) | dbSNP COSMIC |
| 14 | g.100883159G>C | CA390995762 | RTL1 | c.1630C>G (p.Leu544Val) | |
| 14 | g.100883159G= | CA2159074904 | RTL1 | c.1630C= (p.Leu544=) | |
| 14 | g.100883159G>T | CA390995763 | RTL1 | c.1630C>A (p.Leu544Ile) | |
| 14 | g.100883160G>A | CA7347295 | RTL1 | c.1629C>T (p.Ala543=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100883160G>C | CA488181440 | RTL1 | c.1629C>G (p.Ala543=) | |
| 14 | g.100883160G= | CA2159074907 | RTL1 | c.1629C= (p.Ala543=) | |
| 14 | g.100883160G>T | CA488181441 | RTL1 | c.1629C>A (p.Ala543=) | |
| 14 | g.100883161G>A | CA7347296 | RTL1 | c.1628C>T (p.Ala543Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883161G>C | CA390995765 | RTL1 | c.1628C>G (p.Ala543Gly) | |
| 14 | g.100883161G= | CA2159074910 | RTL1 | c.1628C= (p.Ala543=) | |
| 14 | g.100883161G>T | CA390995764 | RTL1 | c.1628C>A (p.Ala543Asp) | |
| 14 | g.100883162C>A | CA390995766 | RTL1 | c.1627G>T (p.Ala543Ser) | |
| 14 | g.100883162C= | CA2159074912 | RTL1 | c.1627G= (p.Ala543=) | |
| 14 | g.100883162C>G | CA390995767 | RTL1 | c.1627G>C (p.Ala543Pro) | |
| 14 | g.100883162C>T | CA390995768 | RTL1 | c.1627G>A (p.Ala543Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883163A>C | CA390995769 | RTL1 | c.1626T>G (p.Ile542Met) | |
| 14 | g.100883163A>G | CA488181451 | RTL1 | c.1626T>C (p.Ile542=) | |
| 14 | g.100883163A>T | CA488181452 | RTL1 | c.1626T>A (p.Ile542=) | |
| 14 | g.100883164A= | CA2159074914 | RTL1 | c.1625T= (p.Ile542=) | |
| 14 | g.100883164A>C | CA390995770 | RTL1 | c.1625T>G (p.Ile542Ser) | |
| 14 | g.100883164A>G | CA7347297 | RTL1 | c.1625T>C (p.Ile542Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883164A>T | CA390995771 | RTL1 | c.1625T>A (p.Ile542Asn) | |
| 14 | g.100883165T>A | CA390995772 | RTL1 | c.1624A>T (p.Ile542Phe) | |
| 14 | g.100883165T>C | CA390995773 | RTL1 | c.1624A>G (p.Ile542Val) | gnomAD v4 |
| 14 | g.100883165T>G | CA390995774 | RTL1 | c.1624A>C (p.Ile542Leu) | |
| 14 | g.100883166G>A | CA488181455 | RTL1 | c.1623C>T (p.Cys541=) | |
| 14 | g.100883166G>C | CA390995775 | RTL1 | c.1623C>G (p.Cys541Trp) | |
| 14 | g.100883166G>T | CA390995776 | RTL1 | c.1623C>A (p.Cys541Ter) | |
| 14 | g.100883167C>A | CA390995778 | RTL1 | c.1622G>T (p.Cys541Phe) | |
| 14 | g.100883167C>G | CA390995779 | RTL1 | c.1622G>C (p.Cys541Ser) | |
| 14 | g.100883167C>T | CA390995777 | RTL1 | c.1622G>A (p.Cys541Tyr) | gnomAD v4 |
| 14 | g.100883168A>C | CA390995780 | RTL1 | c.1621T>G (p.Cys541Gly) | |
| 14 | g.100883168A>G | CA390995781 | RTL1 | c.1621T>C (p.Cys541Arg) | |
| 14 | g.100883168A>T | CA390995782 | RTL1 | c.1621T>A (p.Cys541Ser) | gnomAD v4 |
| 14 | g.100883169T>A | CA488181468 | RTL1 | c.1620A>T (p.Pro540=) | |
| 14 | g.100883169T>C | CA488181469 | RTL1 | c.1620A>G (p.Pro540=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883169T>G | CA488181470 | RTL1 | c.1620A>C (p.Pro540=) | |
| 14 | g.100883169T= | CA2159074917 | RTL1 | c.1620A= (p.Pro540=) | |
| 14 | g.100883170G>A | CA390995783 | RTL1 | c.1619C>T (p.Pro540Leu) | |
| 14 | g.100883170G>C | CA390995784 | RTL1 | c.1619C>G (p.Pro540Arg) | gnomAD v4 |
| 14 | g.100883170G>T | CA390995785 | RTL1 | c.1619C>A (p.Pro540Gln) | |
| 14 | g.100883171G>A | CA390995786 | RTL1 | c.1618C>T (p.Pro540Ser) | |
| 14 | g.100883171G>C | CA390995788 | RTL1 | c.1618C>G (p.Pro540Ala) | |
| 14 | g.100883171G>T | CA390995787 | RTL1 | c.1618C>A (p.Pro540Thr) | |
| 14 | g.100883172C>A | CA488181477 | RTL1 | c.1617G>T (p.Pro539=) | gnomAD v4 |
| 14 | g.100883172C= | CA2159074920 | RTL1 | c.1617G= (p.Pro539=) | |
| 14 | g.100883172C>G | CA488181478 | RTL1 | c.1617G>C (p.Pro539=) | |
| 14 | g.100883172C>T | CA7347298 | RTL1 | c.1617G>A (p.Pro539=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883173G>A | CA7347299 | RTL1 | c.1616C>T (p.Pro539Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883173G>C | CA390995789 | RTL1 | c.1616C>G (p.Pro539Arg) | |
| 14 | g.100883173G= | CA2159074924 | RTL1 | c.1616C= (p.Pro539=) | |
| 14 | g.100883173G>T | CA390995790 | RTL1 | c.1616C>A (p.Pro539Gln) | gnomAD v4 |
| 14 | g.100883177del | CA2558402739 | RTL1 | c.1616del (p.Pro539ArgfsTer6) | |
| 14 | g.100883174G>A | CA390995793 | RTL1 | c.1615C>T (p.Pro539Ser) | |
| 14 | g.100883174G>C | CA390995791 | RTL1 | c.1615C>G (p.Pro539Ala) | |
| 14 | g.100883174G>T | CA390995792 | RTL1 | c.1615C>A (p.Pro539Thr) | |
| 14 | g.100883175G>A | CA488181498 | RTL1 | c.1614C>T (p.Pro538=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883175G>C | CA488181497 | RTL1 | c.1614C>G (p.Pro538=) | |
| 14 | g.100883175G= | CA2159074930 | RTL1 | c.1614C= (p.Pro538=) | |
| 14 | g.100883175G>T | CA488181496 | RTL1 | c.1614C>A (p.Pro538=) | |
| 14 | g.100883176G>A | CA390995794 | RTL1 | c.1613C>T (p.Pro538Leu) | |
| 14 | g.100883176G>C | CA390995795 | RTL1 | c.1613C>G (p.Pro538Arg) | |
| 14 | g.100883176G>T | CA390995796 | RTL1 | c.1613C>A (p.Pro538His) | |
| 14 | g.100883177G>A | CA390995797 | RTL1 | c.1612C>T (p.Pro538Ser) | dbSNP |
| 14 | g.100883177G>C | CA390995798 | RTL1 | c.1612C>G (p.Pro538Ala) | |
| 14 | g.100883177G= | CA2159074935 | RTL1 | c.1612C= (p.Pro538=) | |
| 14 | g.100883177G>T | CA266905373 | RTL1 | c.1612C>A (p.Pro538Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883178C>A | CA488181508 | RTL1 | c.1611G>T (p.Pro537=) | |
| 14 | g.100883178C= | CA2159074944 | RTL1 | c.1611G= (p.Pro537=) | |
| 14 | g.100883178C>G | CA488181509 | RTL1 | c.1611G>C (p.Pro537=) | dbSNP gnomAD v4 |
| 14 | g.100883178C>T | CA488181510 | RTL1 | c.1611G>A (p.Pro537=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.100883179G>A | CA7347300 | RTL1 | c.1610C>T (p.Pro537Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100883179G>C | CA390995800 | RTL1 | c.1610C>G (p.Pro537Arg) | |
| 14 | g.100883179G= | CA2159074947 | RTL1 | c.1610C= (p.Pro537=) | |
| 14 | g.100883179G>T | CA390995799 | RTL1 | c.1610C>A (p.Pro537Gln) | dbSNP gnomAD v4 |
| 14 | g.100883180G>A | CA390995801 | RTL1 | c.1609C>T (p.Pro537Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883180G>C | CA390995802 | RTL1 | c.1609C>G (p.Pro537Ala) | |
| 14 | g.100883180G= | CA2159074950 | RTL1 | c.1609C= (p.Pro537=) | |
| 14 | g.100883180G>T | CA390995803 | RTL1 | c.1609C>A (p.Pro537Thr) | |
| 14 | g.100883181G>A | CA488181514 | RTL1 | c.1608C>T (p.Arg536=) | gnomAD v4 |
| 14 | g.100883181G>C | CA488181518 | RTL1 | c.1608C>G (p.Arg536=) | |
| 14 | g.100883181G>T | CA488181517 | RTL1 | c.1608C>A (p.Arg536=) | |
| 14 | g.100883182C>A | CA390995804 | RTL1 | c.1607G>T (p.Arg536Leu) | gnomAD v4 |
| 14 | g.100883182C= | CA2159074951 | RTL1 | c.1607G= (p.Arg536=) | |
| 14 | g.100883182C>G | CA390995805 | RTL1 | c.1607G>C (p.Arg536Pro) | dbSNP |
| 14 | g.100883182C>T | CA390995806 | RTL1 | c.1607G>A (p.Arg536His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883183G>A | CA7347301 | RTL1 | c.1606C>T (p.Arg536Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100883183G>C | CA390995807 | RTL1 | c.1606C>G (p.Arg536Gly) | |
| 14 | g.100883183G= | CA2159074952 | RTL1 | c.1606C= (p.Arg536=) | |
| 14 | g.100883183G>T | CA390995808 | RTL1 | c.1606C>A (p.Arg536Ser) | |
| 14 | g.100883184G>A | CA488181524 | RTL1 | c.1605C>T (p.Phe535=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883184G>C | CA390995809 | RTL1 | c.1605C>G (p.Phe535Leu) | |
| 14 | g.100883184G= | CA2159074954 | RTL1 | c.1605C= (p.Phe535=) | |
| 14 | g.100883184G>T | CA390995810 | RTL1 | c.1605C>A (p.Phe535Leu) | |
| 14 | g.100883185A= | CA2159074955 | RTL1 | c.1604T= (p.Phe535=) | |
| 14 | g.100883185A>C | CA390995811 | RTL1 | c.1604T>G (p.Phe535Cys) | |
| 14 | g.100883185A>G | CA390995812 | RTL1 | c.1604T>C (p.Phe535Ser) | dbSNP |
| 14 | g.100883185A>T | CA390995813 | RTL1 | c.1604T>A (p.Phe535Tyr) | |
| 14 | g.100883186A>C | CA390995814 | RTL1 | c.1603T>G (p.Phe535Val) | COSMIC |
| 14 | g.100883186A>G | CA390995815 | RTL1 | c.1603T>C (p.Phe535Leu) | |
| 14 | g.100883186A>T | CA390995816 | RTL1 | c.1603T>A (p.Phe535Ile) | |
| 14 | g.100883187G>A | CA488181539 | RTL1 | c.1602C>T (p.Cys534=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883187G>C | CA390995817 | RTL1 | c.1602C>G (p.Cys534Trp) | |
| 14 | g.100883187G= | CA2159074957 | RTL1 | c.1602C= (p.Cys534=) | |
| 14 | g.100883187G>T | CA390995818 | RTL1 | c.1602C>A (p.Cys534Ter) | |
| 14 | g.100883188C>A | CA390995819 | RTL1 | c.1601G>T (p.Cys534Phe) | |
| 14 | g.100883188C>G | CA390995820 | RTL1 | c.1601G>C (p.Cys534Ser) | |
| 14 | g.100883188C>T | CA390995821 | RTL1 | c.1601G>A (p.Cys534Tyr) | |
| 14 | g.100883189A= | CA2159074962 | RTL1 | c.1600T= (p.Cys534=) | |
| 14 | g.100883189A>C | CA390995822 | RTL1 | c.1600T>G (p.Cys534Gly) | |
| 14 | g.100883189A>G | CA390995824 | RTL1 | c.1600T>C (p.Cys534Arg) | dbSNP |
| 14 | g.100883189A>T | CA390995823 | RTL1 | c.1600T>A (p.Cys534Ser) | |
| 14 | g.100883190G>A | CA488181547 | RTL1 | c.1599C>T (p.Asn533=) | |
| 14 | g.100883190G>C | CA390995825 | RTL1 | c.1599C>G (p.Asn533Lys) | |
| 14 | g.100883190G>T | CA390995826 | RTL1 | c.1599C>A (p.Asn533Lys) | |
| 14 | g.100883191T>A | CA390995827 | RTL1 | c.1598A>T (p.Asn533Ile) | |
| 14 | g.100883191T>C | CA390995828 | RTL1 | c.1598A>G (p.Asn533Ser) | gnomAD v4 |
| 14 | g.100883191T>G | CA390995829 | RTL1 | c.1598A>C (p.Asn533Thr) | |
| 14 | g.100883192T>A | CA390995830 | RTL1 | c.1597A>T (p.Asn533Tyr) | |
| 14 | g.100883192T>C | CA390995831 | RTL1 | c.1597A>G (p.Asn533Asp) | |
| 14 | g.100883192T>G | CA390995832 | RTL1 | c.1597A>C (p.Asn533His) | |
| 14 | g.100883193C>A | CA390995833 | RTL1 | c.1596G>T (p.Lys532Asn) | |
| 14 | g.100883193C>G | CA390995834 | RTL1 | c.1596G>C (p.Lys532Asn) | |
| 14 | g.100883193C>T | CA488181550 | RTL1 | c.1596G>A (p.Lys532=) | |
| 14 | g.100883194T>A | CA390995835 | RTL1 | c.1595A>T (p.Lys532Met) | |
| 14 | g.100883194T>C | CA390995836 | RTL1 | c.1595A>G (p.Lys532Arg) | |
| 14 | g.100883194T>G | CA390995837 | RTL1 | c.1595A>C (p.Lys532Thr) | |
| 14 | g.100883195T>A | CA390995840 | RTL1 | c.1594A>T (p.Lys532Ter) | |
| 14 | g.100883195T>C | CA390995838 | RTL1 | c.1594A>G (p.Lys532Glu) | |
| 14 | g.100883195T>G | CA390995839 | RTL1 | c.1594A>C (p.Lys532Gln) | |
| 14 | g.100883196C>A | CA488181562 | RTL1 | c.1593G>T (p.Leu531=) | |
| 14 | g.100883196C= | CA2159074966 | RTL1 | c.1593G= (p.Leu531=) | |
| 14 | g.100883196C>G | CA488181563 | RTL1 | c.1593G>C (p.Leu531=) | |
| 14 | g.100883196C>T | CA488181564 | RTL1 | c.1593G>A (p.Leu531=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883197A= | CA2159074968 | RTL1 | c.1592T= (p.Leu531=) | |
| 14 | g.100883197A>C | CA390995841 | RTL1 | c.1592T>G (p.Leu531Arg) | |
| 14 | g.100883197A>G | CA390995842 | RTL1 | c.1592T>C (p.Leu531Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883197A>T | CA390995843 | RTL1 | c.1592T>A (p.Leu531Gln) | |
| 14 | g.100883198G>A | CA488181576 | RTL1 | c.1591C>T (p.Leu531=) | |
| 14 | g.100883198G>C | CA390995844 | RTL1 | c.1591C>G (p.Leu531Val) | |
| 14 | g.100883198G>T | CA390995845 | RTL1 | c.1591C>A (p.Leu531Met) | |
| 14 | g.100883199G>A | CA7347302 | RTL1 | c.1590C>T (p.Cys530=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883199G>C | CA390995846 | RTL1 | c.1590C>G (p.Cys530Trp) | |
| 14 | g.100883199G= | CA2159074970 | RTL1 | c.1590C= (p.Cys530=) | |
| 14 | g.100883199G>T | CA390995847 | RTL1 | c.1590C>A (p.Cys530Ter) | |
| 14 | g.100883200C>A | CA390995848 | RTL1 | c.1589G>T (p.Cys530Phe) | |
| 14 | g.100883200C= | CA2159074977 | RTL1 | c.1589G= (p.Cys530=) | |
| 14 | g.100883200C>G | CA390995849 | RTL1 | c.1589G>C (p.Cys530Ser) | |
| 14 | g.100883200C>T | CA390995850 | RTL1 | c.1589G>A (p.Cys530Tyr) | |
| 14 | g.100883201A>C | CA390995851 | RTL1 | c.1588T>G (p.Cys530Gly) | |
| 14 | g.100883201A>G | CA390995853 | RTL1 | c.1588T>C (p.Cys530Arg) | |
| 14 | g.100883201A>T | CA390995852 | RTL1 | c.1588T>A (p.Cys530Ser) | |
| 14 | g.100883201_100883204dup | CA2159074979 | RTL1 | c.1585_1588dup (p.Cys530LeufsTer?) | dbSNP gnomAD v4 |
| 14 | g.100883202G>A | CA488181583 | RTL1 | c.1587C>T (p.Tyr529=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883202G>C | CA390995854 | RTL1 | c.1587C>G (p.Tyr529Ter) | |
| 14 | g.100883202G= | CA2159074980 | RTL1 | c.1587C= (p.Tyr529=) | |
| 14 | g.100883202G>T | CA390995855 | RTL1 | c.1587C>A (p.Tyr529Ter) | |
| 14 | g.100883203T>A | CA390995856 | RTL1 | c.1586A>T (p.Tyr529Phe) | |
| 14 | g.100883203T>C | CA7347303 | RTL1 | c.1586A>G (p.Tyr529Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100883203T>G | CA390995857 | RTL1 | c.1586A>C (p.Tyr529Ser) | |
| 14 | g.100883203T= | CA2159074982 | RTL1 | c.1586A= (p.Tyr529=) | |
| 14 | g.100883204A>C | CA390995858 | RTL1 | c.1585T>G (p.Tyr529Asp) | |
| 14 | g.100883204A>G | CA390995859 | RTL1 | c.1585T>C (p.Tyr529His) | |
| 14 | g.100883204A>T | CA390995860 | RTL1 | c.1585T>A (p.Tyr529Asn) | |
| 14 | g.100883205G>A | CA488181590 | RTL1 | c.1584C>T (p.Pro528=) | |
| 14 | g.100883205G>C | CA488181591 | RTL1 | c.1584C>G (p.Pro528=) | |
| 14 | g.100883205G>T | CA488181592 | RTL1 | c.1584C>A (p.Pro528=) | |
| 14 | g.100883206G>A | CA390995861 | RTL1 | c.1583C>T (p.Pro528Leu) | |
| 14 | g.100883206G>C | CA390995862 | RTL1 | c.1583C>G (p.Pro528Arg) | |
| 14 | g.100883206G>T | CA390995863 | RTL1 | c.1583C>A (p.Pro528His) | |
| 14 | g.100883207G>A | CA390995864 | RTL1 | c.1582C>T (p.Pro528Ser) | |
| 14 | g.100883207G>C | CA390995865 | RTL1 | c.1582C>G (p.Pro528Ala) | |
| 14 | g.100883207G>T | CA390995866 | RTL1 | c.1582C>A (p.Pro528Thr) | |
| 14 | g.100883208A>C | CA488181599 | RTL1 | c.1581T>G (p.Ser527=) | |
| 14 | g.100883208A>G | CA488181602 | RTL1 | c.1581T>C (p.Ser527=) | gnomAD v4 |
| 14 | g.100883208A>T | CA488181609 | RTL1 | c.1581T>A (p.Ser527=) | |
| 14 | g.100883209G>A | CA390995867 | RTL1 | c.1580C>T (p.Ser527Phe) | |
| 14 | g.100883209G>C | CA390995868 | RTL1 | c.1580C>G (p.Ser527Cys) | |
| 14 | g.100883209G>T | CA390995869 | RTL1 | c.1580C>A (p.Ser527Tyr) | |
| 14 | g.100883210A>C | CA390995870 | RTL1 | c.1579T>G (p.Ser527Ala) | |
| 14 | g.100883210A>G | CA390995872 | RTL1 | c.1579T>C (p.Ser527Pro) | |
| 14 | g.100883210A>T | CA390995871 | RTL1 | c.1579T>A (p.Ser527Thr) | |
| 14 | g.100883211G>A | CA488181614 | RTL1 | c.1578C>T (p.His526=) | dbSNP gnomAD v2 |
| 14 | g.100883211G>C | CA266905432 | RTL1 | c.1578C>G (p.His526Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883211G= | CA2159074988 | RTL1 | c.1578C= (p.His526=) | |
| 14 | g.100883211G>T | CA390995873 | RTL1 | c.1578C>A (p.His526Gln) | |
| 14 | g.100883212T>A | CA390995874 | RTL1 | c.1577A>T (p.His526Leu) | |
| 14 | g.100883212T>C | CA390995875 | RTL1 | c.1577A>G (p.His526Arg) | |
| 14 | g.100883212T>G | CA390995876 | RTL1 | c.1577A>C (p.His526Pro) | gnomAD v3 gnomAD v4 |
| 14 | g.100883213G>A | CA390995877 | RTL1 | c.1576C>T (p.His526Tyr) | |
| 14 | g.100883213G>C | CA390995878 | RTL1 | c.1576C>G (p.His526Asp) | |
| 14 | g.100883213G= | CA2159074990 | RTL1 | c.1576C= (p.His526=) | |
| 14 | g.100883213G>T | CA7347304 | RTL1 | c.1576C>A (p.His526Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100883214G>A | CA488181625 | RTL1 | c.1575C>T (p.Phe525=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100883214G>C | CA390995879 | RTL1 | c.1575C>G (p.Phe525Leu) | |
| 14 | g.100883214G= | CA2159074992 | RTL1 | c.1575C= (p.Phe525=) | |
| 14 | g.100883214G>T | CA390995880 | RTL1 | c.1575C>A (p.Phe525Leu) | |
| 14 | g.100883215A>C | CA390995882 | RTL1 | c.1574T>G (p.Phe525Cys) | |
| 14 | g.100883215A>G | CA390995883 | RTL1 | c.1574T>C (p.Phe525Ser) | |
| 14 | g.100883215A>T | CA390995881 | RTL1 | c.1574T>A (p.Phe525Tyr) | |
| 14 | g.100883216A>C | CA390995884 | RTL1 | c.1573T>G (p.Phe525Val) | |
| 14 | g.100883216A>G | CA390995885 | RTL1 | c.1573T>C (p.Phe525Leu) | |
| 14 | g.100883216A>T | CA390995886 | RTL1 | c.1573T>A (p.Phe525Ile) | |
| 14 | g.100883217G>A | CA488181630 | RTL1 | c.1572C>T (p.Thr524=) | gnomAD v4 |
| 14 | g.100883217G>C | CA488181631 | RTL1 | c.1572C>G (p.Thr524=) | |
| 14 | g.100883217G>T | CA488181633 | RTL1 | c.1572C>A (p.Thr524=) |