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 |
|---|---|---|---|---|---|
| 1 | g.230995865_230995867del | CA529916399 | ARV1 | c.554_556del (p.Leu185del) c.434_436del (p.Leu145del) c.613_615del c.544_546del c.106_108del c.482_484del (p.Leu161del) n.919_921del n.585_587del c.653_655del (p.Leu218del) n.611_613del c.677_679del (p.Leu226del) n.701_703del n.566_568del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230995865_230995868delinsTATC | CA1226782590 | ARV1 | c.554_557delinsTATC (p.Leu185=) c.434_437delinsTATC (p.Leu145=) c.613_616delinsTATC c.544_547delinsTATC c.106_109delinsTATC c.482_485delinsTATC (p.Leu161=) n.919_922delinsTATC n.585_588delinsTATC c.653_656delinsTATC (p.Leu218=) n.611_614delinsTATC c.677_680delinsTATC (p.Leu226=) n.701_704delinsTATC n.566_569delinsTATC | |
| 1 | g.230995866_230995868del | CA1450513 | ARV1 | c.555_557del (p.Leu185_Ser186delinsPhe) c.435_437del (p.Leu145_Ser146delinsPhe) c.614_616del c.545_547del c.107_109del c.483_485del (p.Leu161_Ser162delinsPhe) n.920_922del n.586_588del c.654_656del (p.Leu218_Ser219delinsPhe) n.612_614del c.678_680del (p.Leu226_Ser227delinsPhe) n.702_704del n.567_569del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230995867T>A | CA345219797 | ARV1 | c.556T>A (p.Ser186Thr) c.436T>A (p.Ser146Thr) c.615T>A c.546T>A c.108T>A c.484T>A (p.Ser162Thr) n.921T>A n.587T>A c.655T>A (p.Ser219Thr) n.613T>A c.679T>A (p.Ser227Thr) n.703T>A n.568T>A | gnomAD v4 |
| 1 | g.230995867T>C | CA345219798 | ARV1 | c.556T>C (p.Ser186Pro) c.436T>C (p.Ser146Pro) c.615T>C c.546T>C c.108T>C c.484T>C (p.Ser162Pro) n.921T>C n.587T>C c.655T>C (p.Ser219Pro) n.613T>C c.679T>C (p.Ser227Pro) n.703T>C n.568T>C | |
| 1 | g.230995867T>G | CA345219799 | ARV1 | c.556T>G (p.Ser186Ala) c.436T>G (p.Ser146Ala) c.615T>G c.546T>G c.108T>G c.484T>G (p.Ser162Ala) n.921T>G n.587T>G c.655T>G (p.Ser219Ala) n.613T>G c.679T>G (p.Ser227Ala) n.703T>G n.568T>G | |
| 1 | g.230995868C>A | CA345219802 | ARV1 | c.557C>A (p.Ser186Tyr) c.437C>A (p.Ser146Tyr) c.616C>A c.547C>A c.109C>A c.485C>A (p.Ser162Tyr) n.922C>A n.588C>A c.656C>A (p.Ser219Tyr) n.614C>A c.680C>A (p.Ser227Tyr) n.704C>A n.569C>A | |
| 1 | g.230995868C>G | CA345219801 | ARV1 | c.557C>G (p.Ser186Cys) c.437C>G (p.Ser146Cys) c.616C>G c.547C>G c.109C>G c.485C>G (p.Ser162Cys) n.922C>G n.588C>G c.656C>G (p.Ser219Cys) n.614C>G c.680C>G (p.Ser227Cys) n.704C>G n.569C>G | gnomAD v4 |
| 1 | g.230995868C>T | CA345219800 | ARV1 | c.557C>T (p.Ser186Phe) c.437C>T (p.Ser146Phe) c.616C>T c.547C>T c.109C>T c.485C>T (p.Ser162Phe) n.922C>T n.588C>T c.656C>T (p.Ser219Phe) n.614C>T c.680C>T (p.Ser227Phe) n.704C>T n.569C>T | |
| 1 | g.230995869T>A | CA423890459 | ARV1 | c.558T>A (p.Ser186=) c.438T>A (p.Ser146=) c.617T>A c.548T>A c.110T>A c.486T>A (p.Ser162=) n.923T>A n.589T>A c.657T>A (p.Ser219=) n.615T>A c.681T>A (p.Ser227=) n.705T>A n.570T>A | |
| 1 | g.230995869T>C | CA423890460 | ARV1 | c.558T>C (p.Ser186=) c.438T>C (p.Ser146=) c.617T>C c.548T>C c.110T>C c.486T>C (p.Ser162=) n.923T>C n.589T>C c.657T>C (p.Ser219=) n.615T>C c.681T>C (p.Ser227=) n.705T>C n.570T>C | |
| 1 | g.230995869T>G | CA423890461 | ARV1 | c.558T>G (p.Ser186=) c.438T>G (p.Ser146=) c.617T>G c.548T>G c.110T>G c.486T>G (p.Ser162=) n.923T>G n.589T>G c.657T>G (p.Ser219=) n.615T>G c.681T>G (p.Ser227=) n.705T>G n.570T>G | |
| 1 | g.230995870A>C | CA345219803 | ARV1 | c.559A>C (p.Ser187Arg) c.439A>C (p.Ser147Arg) c.618A>C c.549A>C c.111A>C c.487A>C (p.Ser163Arg) n.924A>C n.590A>C c.658A>C (p.Ser220Arg) n.616A>C c.682A>C (p.Ser228Arg) n.706A>C n.571A>C | |
| 1 | g.230995870A>G | CA345219804 | ARV1 | c.559A>G (p.Ser187Gly) c.439A>G (p.Ser147Gly) c.618A>G c.549A>G c.111A>G c.487A>G (p.Ser163Gly) n.924A>G n.590A>G c.658A>G (p.Ser220Gly) n.616A>G c.682A>G (p.Ser228Gly) n.706A>G n.571A>G | |
| 1 | g.230995870A>T | CA345219805 | ARV1 | c.559A>T (p.Ser187Cys) c.439A>T (p.Ser147Cys) c.618A>T c.549A>T c.111A>T c.487A>T (p.Ser163Cys) n.924A>T n.590A>T c.658A>T (p.Ser220Cys) n.616A>T c.682A>T (p.Ser228Cys) n.706A>T n.571A>T | |
| 1 | g.230995871G>A | CA345219806 | ARV1 | c.560G>A (p.Ser187Asn) c.440G>A (p.Ser147Asn) c.619G>A c.550G>A c.112G>A c.488G>A (p.Ser163Asn) n.925G>A n.591G>A c.659G>A (p.Ser220Asn) n.617G>A c.683G>A (p.Ser228Asn) n.707G>A n.572G>A | |
| 1 | g.230995871G>C | CA345219807 | ARV1 | c.560G>C (p.Ser187Thr) c.440G>C (p.Ser147Thr) c.619G>C c.550G>C c.112G>C c.488G>C (p.Ser163Thr) n.925G>C n.591G>C c.659G>C (p.Ser220Thr) n.617G>C c.683G>C (p.Ser228Thr) n.707G>C n.572G>C | |
| 1 | g.230995871G>T | CA345219808 | ARV1 | c.560G>T (p.Ser187Ile) c.440G>T (p.Ser147Ile) c.619G>T c.550G>T c.112G>T c.488G>T (p.Ser163Ile) n.925G>T n.591G>T c.659G>T (p.Ser220Ile) n.617G>T c.683G>T (p.Ser228Ile) n.707G>T n.572G>T | |
| 1 | g.230995872C>A | CA345219809 | ARV1 | c.561C>A (p.Ser187Arg) c.441C>A (p.Ser147Arg) c.620C>A c.551C>A c.113C>A c.489C>A (p.Ser163Arg) n.926C>A n.592C>A c.660C>A (p.Ser220Arg) n.618C>A c.684C>A (p.Ser228Arg) n.708C>A n.573C>A | |
| 1 | g.230995872C>G | CA345219810 | ARV1 | c.561C>G (p.Ser187Arg) c.441C>G (p.Ser147Arg) c.620C>G c.551C>G c.113C>G c.489C>G (p.Ser163Arg) n.926C>G n.592C>G c.660C>G (p.Ser220Arg) n.618C>G c.684C>G (p.Ser228Arg) n.708C>G n.573C>G | |
| 1 | g.230995872C>T | CA423890462 | ARV1 | c.561C>T (p.Ser187=) c.441C>T (p.Ser147=) c.620C>T c.551C>T c.113C>T c.489C>T (p.Ser163=) n.926C>T n.592C>T c.660C>T (p.Ser220=) n.618C>T c.684C>T (p.Ser228=) n.708C>T n.573C>T | |
| 1 | g.230995873T>A | CA345219811 | ARV1 | c.562T>A (p.Tyr188Asn) c.442T>A (p.Tyr148Asn) c.621T>A c.552T>A c.114T>A c.490T>A (p.Tyr164Asn) n.927T>A n.593T>A c.661T>A (p.Tyr221Asn) n.619T>A c.685T>A (p.Tyr229Asn) n.709T>A n.574T>A | |
| 1 | g.230995873T>C | CA345219812 | ARV1 | c.562T>C (p.Tyr188His) c.442T>C (p.Tyr148His) c.621T>C c.552T>C c.114T>C c.490T>C (p.Tyr164His) n.927T>C n.593T>C c.661T>C (p.Tyr221His) n.619T>C c.685T>C (p.Tyr229His) n.709T>C n.574T>C | |
| 1 | g.230995873T>G | CA345219813 | ARV1 | c.562T>G (p.Tyr188Asp) c.442T>G (p.Tyr148Asp) c.621T>G c.552T>G c.114T>G c.490T>G (p.Tyr164Asp) n.927T>G n.593T>G c.661T>G (p.Tyr221Asp) n.619T>G c.685T>G (p.Tyr229Asp) n.709T>G n.574T>G | |
| 1 | g.230995874A>C | CA345219814 | ARV1 | c.563A>C (p.Tyr188Ser) c.443A>C (p.Tyr148Ser) c.622A>C c.553A>C c.115A>C c.491A>C (p.Tyr164Ser) n.928A>C n.594A>C c.662A>C (p.Tyr221Ser) n.620A>C c.686A>C (p.Tyr229Ser) n.710A>C n.575A>C | |
| 1 | g.230995874A>G | CA345219815 | ARV1 | c.563A>G (p.Tyr188Cys) c.443A>G (p.Tyr148Cys) c.622A>G c.553A>G c.115A>G c.491A>G (p.Tyr164Cys) n.928A>G n.594A>G c.662A>G (p.Tyr221Cys) n.620A>G c.686A>G (p.Tyr229Cys) n.710A>G n.575A>G | |
| 1 | g.230995874A>T | CA345219816 | ARV1 | c.563A>T (p.Tyr188Phe) c.443A>T (p.Tyr148Phe) c.622A>T c.553A>T c.115A>T c.491A>T (p.Tyr164Phe) n.928A>T n.594A>T c.662A>T (p.Tyr221Phe) n.620A>T c.686A>T (p.Tyr229Phe) n.710A>T n.575A>T | |
| 1 | g.230995875C>A | CA345219817 | ARV1 | c.564C>A (p.Tyr188Ter) c.444C>A (p.Tyr148Ter) c.623C>A c.554C>A c.116C>A c.492C>A (p.Tyr164Ter) n.929C>A n.595C>A c.663C>A (p.Tyr221Ter) n.621C>A c.687C>A (p.Tyr229Ter) n.711C>A n.576C>A | |
| 1 | g.230995875C= | CA1226782601 | ARV1 | c.564C= (p.Tyr188=) c.444C= (p.Tyr148=) c.623C= c.554C= c.116C= c.492C= (p.Tyr164=) n.929C= n.595C= c.663C= (p.Tyr221=) n.621C= c.687C= (p.Tyr229=) n.711C= n.576C= | |
| 1 | g.230995875C>G | CA345219818 | ARV1 | c.564C>G (p.Tyr188Ter) c.444C>G (p.Tyr148Ter) c.623C>G c.554C>G c.116C>G c.492C>G (p.Tyr164Ter) n.929C>G n.595C>G c.663C>G (p.Tyr221Ter) n.621C>G c.687C>G (p.Tyr229Ter) n.711C>G n.576C>G | |
| 1 | g.230995875C>T | CA1450516 | ARV1 | c.564C>T (p.Tyr188=) c.444C>T (p.Tyr148=) c.623C>T c.554C>T c.116C>T c.492C>T (p.Tyr164=) n.929C>T n.595C>T c.663C>T (p.Tyr221=) n.621C>T c.687C>T (p.Tyr229=) n.711C>T n.576C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230995876G>A | CA186075 | ARV1 | c.565G>A (p.Gly189Arg) c.445G>A (p.Gly149Arg) c.624G>A c.555G>A c.117G>A c.493G>A (p.Gly165Arg) n.930G>A n.596G>A c.664G>A (p.Gly222Arg) n.622G>A c.688G>A (p.Gly230Arg) n.712G>A n.577G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230995876G>C | CA345219820 | ARV1 | c.565G>C (p.Gly189Arg) c.445G>C (p.Gly149Arg) c.624G>C c.555G>C c.117G>C c.493G>C (p.Gly165Arg) n.930G>C n.596G>C c.664G>C (p.Gly222Arg) n.622G>C c.688G>C (p.Gly230Arg) n.712G>C n.577G>C | |
| 1 | g.230995876G= | CA1148225989 | ARV1 | c.565G= (p.Gly189=) c.445G= (p.Gly149=) c.624G= c.555G= c.117G= c.493G= (p.Gly165=) n.930G= n.596G= c.664G= (p.Gly222=) n.622G= c.688G= (p.Gly230=) n.712G= n.577G= | |
| 1 | g.230995876G>T | CA345219819 | ARV1 | c.565G>T (p.Gly189Ter) c.445G>T (p.Gly149Ter) c.624G>T c.555G>T c.117G>T c.493G>T (p.Gly165Ter) n.930G>T n.596G>T c.664G>T (p.Gly222Ter) n.622G>T c.688G>T (p.Gly230Ter) n.712G>T n.577G>T | |
| 1 | g.230995877G>A | CA345219821 | ARV1 | c.566G>A (p.Gly189Glu) c.446G>A (p.Gly149Glu) c.625G>A c.556G>A c.118G>A c.494G>A (p.Gly165Glu) n.931G>A n.597G>A c.665G>A (p.Gly222Glu) n.623G>A c.689G>A (p.Gly230Glu) n.713G>A n.578G>A | |
| 1 | g.230995877G>C | CA345219823 | ARV1 | c.566G>C (p.Gly189Ala) c.446G>C (p.Gly149Ala) c.625G>C c.556G>C c.118G>C c.494G>C (p.Gly165Ala) n.931G>C n.597G>C c.665G>C (p.Gly222Ala) n.623G>C c.689G>C (p.Gly230Ala) n.713G>C n.578G>C | |
| 1 | g.230995877G>T | CA345219822 | ARV1 | c.566G>T (p.Gly189Val) c.446G>T (p.Gly149Val) c.625G>T c.556G>T c.118G>T c.494G>T (p.Gly165Val) n.931G>T n.597G>T c.665G>T (p.Gly222Val) n.623G>T c.689G>T (p.Gly230Val) n.713G>T n.578G>T | |
| 1 | g.230995878A>C | CA423890465 | ARV1 | c.567A>C (p.Gly189=) c.447A>C (p.Gly149=) c.626A>C c.557A>C c.119A>C c.495A>C (p.Gly165=) n.932A>C n.598A>C c.666A>C (p.Gly222=) n.624A>C c.690A>C (p.Gly230=) n.714A>C n.579A>C | |
| 1 | g.230995878A>G | CA423890464 | ARV1 | c.567A>G (p.Gly189=) c.447A>G (p.Gly149=) c.626A>G c.557A>G c.119A>G c.495A>G (p.Gly165=) n.932A>G n.598A>G c.666A>G (p.Gly222=) n.624A>G c.690A>G (p.Gly230=) n.714A>G n.579A>G | |
| 1 | g.230995878A>T | CA423890463 | ARV1 | c.567A>T (p.Gly189=) c.447A>T (p.Gly149=) c.626A>T c.557A>T c.119A>T c.495A>T (p.Gly165=) n.932A>T n.598A>T c.666A>T (p.Gly222=) n.624A>T c.690A>T (p.Gly230=) n.714A>T n.579A>T | |
| 1 | g.230995879A>C | CA345219824 | ARV1 | c.568A>C (p.Lys190Gln) c.448A>C (p.Lys150Gln) c.627A>C c.558A>C c.120A>C c.496A>C (p.Lys166Gln) n.933A>C n.599A>C c.667A>C (p.Lys223Gln) n.625A>C c.691A>C (p.Lys231Gln) n.715A>C n.580A>C | |
| 1 | g.230995879A>G | CA345219826 | ARV1 | c.568A>G (p.Lys190Glu) c.448A>G (p.Lys150Glu) c.627A>G c.558A>G c.120A>G c.496A>G (p.Lys166Glu) n.933A>G n.599A>G c.667A>G (p.Lys223Glu) n.625A>G c.691A>G (p.Lys231Glu) n.715A>G n.580A>G | |
| 1 | g.230995879A>T | CA345219825 | ARV1 | c.568A>T (p.Lys190Ter) c.448A>T (p.Lys150Ter) c.627A>T c.558A>T c.120A>T c.496A>T (p.Lys166Ter) n.933A>T n.599A>T c.667A>T (p.Lys223Ter) n.625A>T c.691A>T (p.Lys231Ter) n.715A>T n.580A>T | |
| 1 | g.230995880A>C | CA345219827 | ARV1 | c.569A>C (p.Lys190Thr) c.449A>C (p.Lys150Thr) c.628A>C c.559A>C c.121A>C c.497A>C (p.Lys166Thr) n.934A>C n.600A>C c.668A>C (p.Lys223Thr) n.626A>C c.692A>C (p.Lys231Thr) n.716A>C n.581A>C | |
| 1 | g.230995880A>G | CA345219828 | ARV1 | c.569A>G (p.Lys190Arg) c.449A>G (p.Lys150Arg) c.628A>G c.559A>G c.121A>G c.497A>G (p.Lys166Arg) n.934A>G n.600A>G c.668A>G (p.Lys223Arg) n.626A>G c.692A>G (p.Lys231Arg) n.716A>G n.581A>G | |
| 1 | g.230995880A>T | CA345219829 | ARV1 | c.569A>T (p.Lys190Ile) c.449A>T (p.Lys150Ile) c.628A>T c.559A>T c.121A>T c.497A>T (p.Lys166Ile) n.934A>T n.600A>T c.668A>T (p.Lys223Ile) n.626A>T c.692A>T (p.Lys231Ile) n.716A>T n.581A>T | |
| 1 | g.230995881A>C | CA345219830 | ARV1 | c.570A>C (p.Lys190Asn) c.450A>C (p.Lys150Asn) c.629A>C c.560A>C c.122A>C c.498A>C (p.Lys166Asn) n.935A>C n.601A>C c.669A>C (p.Lys223Asn) n.627A>C c.693A>C (p.Lys231Asn) n.717A>C n.582A>C | |
| 1 | g.230995881A>G | CA423890466 | ARV1 | c.570A>G (p.Lys190=) c.450A>G (p.Lys150=) c.629A>G c.560A>G c.122A>G c.498A>G (p.Lys166=) n.935A>G n.601A>G c.669A>G (p.Lys223=) n.627A>G c.693A>G (p.Lys231=) n.717A>G n.582A>G | |
| 1 | g.230995881A>T | CA345219831 | ARV1 | c.570A>T (p.Lys190Asn) c.450A>T (p.Lys150Asn) c.629A>T c.560A>T c.122A>T c.498A>T (p.Lys166Asn) n.935A>T n.601A>T c.669A>T (p.Lys223Asn) n.627A>T c.693A>T (p.Lys231Asn) n.717A>T n.582A>T | gnomAD v4 |
| 1 | g.230995882C>A | CA345219832 | ARV1 | c.571C>A (p.Leu191Ile) c.451C>A (p.Leu151Ile) c.630C>A c.561C>A c.123C>A c.499C>A (p.Leu167Ile) n.936C>A n.602C>A c.670C>A (p.Leu224Ile) n.628C>A c.694C>A (p.Leu232Ile) n.718C>A n.583C>A | |
| 1 | g.230995882C= | CA1226782613 | ARV1 | c.571C= (p.Leu191=) c.451C= (p.Leu151=) c.630C= c.561C= c.123C= c.499C= (p.Leu167=) n.936C= n.602C= c.670C= (p.Leu224=) n.628C= c.694C= (p.Leu232=) n.718C= n.583C= | |
| 1 | g.230995882C>G | CA345219833 | ARV1 | c.571C>G (p.Leu191Val) c.451C>G (p.Leu151Val) c.630C>G c.561C>G c.123C>G c.499C>G (p.Leu167Val) n.936C>G n.602C>G c.670C>G (p.Leu224Val) n.628C>G c.694C>G (p.Leu232Val) n.718C>G n.583C>G | |
| 1 | g.230995882C>T | CA345219834 | ARV1 | c.571C>T (p.Leu191Phe) c.451C>T (p.Leu151Phe) c.630C>T c.561C>T c.123C>T c.499C>T (p.Leu167Phe) n.936C>T n.602C>T c.670C>T (p.Leu224Phe) n.628C>T c.694C>T (p.Leu232Phe) n.718C>T n.583C>T | dbSNP gnomAD v4 |
| 1 | g.230995884_230995885del | CA2580611559 | ARV1 | c.573_574del (p.Leu192AlafsTer10) c.453_454del (p.Leu152AlafsTer10) c.632_633del c.563_564del c.125_126del c.501_502del (p.Leu168AlafsTer10) n.938_939del n.604_605del c.672_673del (p.Leu225AlafsTer10) n.630_631del c.696_697del (p.Leu233AlafsTer10) n.720_721del n.585_586del | ClinVar |
| 1 | g.230995883T>A | CA345219835 | ARV1 | c.572T>A (p.Leu191His) c.452T>A (p.Leu151His) c.631T>A c.562T>A c.124T>A c.500T>A (p.Leu167His) n.937T>A n.603T>A c.671T>A (p.Leu224His) n.629T>A c.695T>A (p.Leu232His) n.719T>A n.584T>A | gnomAD v4 |
| 1 | g.230995883T>C | CA345219836 | ARV1 | c.572T>C (p.Leu191Pro) c.452T>C (p.Leu151Pro) c.631T>C c.562T>C c.124T>C c.500T>C (p.Leu167Pro) n.937T>C n.603T>C c.671T>C (p.Leu224Pro) n.629T>C c.695T>C (p.Leu232Pro) n.719T>C n.584T>C | |
| 1 | g.230995883T>G | CA345219837 | ARV1 | c.572T>G (p.Leu191Arg) c.452T>G (p.Leu151Arg) c.631T>G c.562T>G c.124T>G c.500T>G (p.Leu167Arg) n.937T>G n.603T>G c.671T>G (p.Leu224Arg) n.629T>G c.695T>G (p.Leu232Arg) n.719T>G n.584T>G | |
| 1 | g.230995884C>A | CA423890467 | ARV1 | c.573C>A (p.Leu191=) c.453C>A (p.Leu151=) c.632C>A c.563C>A c.125C>A c.501C>A (p.Leu167=) n.938C>A n.604C>A c.672C>A (p.Leu224=) n.630C>A c.696C>A (p.Leu232=) n.720C>A n.585C>A | |
| 1 | g.230995884C>G | CA423890468 | ARV1 | c.573C>G (p.Leu191=) c.453C>G (p.Leu151=) c.632C>G c.563C>G c.125C>G c.501C>G (p.Leu167=) n.938C>G n.604C>G c.672C>G (p.Leu224=) n.630C>G c.696C>G (p.Leu232=) n.720C>G n.585C>G | |
| 1 | g.230995884C>T | CA423890469 | ARV1 | c.573C>T (p.Leu191=) c.453C>T (p.Leu151=) c.632C>T c.563C>T c.125C>T c.501C>T (p.Leu167=) n.938C>T n.604C>T c.672C>T (p.Leu224=) n.630C>T c.696C>T (p.Leu232=) n.720C>T n.585C>T | |
| 1 | g.230995885T>A | CA345219838 | ARV1 | c.574T>A (p.Leu192Met) c.454T>A (p.Leu152Met) c.633T>A c.564T>A c.126T>A c.502T>A (p.Leu168Met) n.939T>A n.605T>A c.673T>A (p.Leu225Met) n.631T>A c.697T>A (p.Leu233Met) n.721T>A n.586T>A | |
| 1 | g.230995885T>C | CA423890470 | ARV1 | c.574T>C (p.Leu192=) c.454T>C (p.Leu152=) c.633T>C c.564T>C c.126T>C c.502T>C (p.Leu168=) n.939T>C n.605T>C c.673T>C (p.Leu225=) n.631T>C c.697T>C (p.Leu233=) n.721T>C n.586T>C | gnomAD v4 |
| 1 | g.230995885T>G | CA345219839 | ARV1 | c.574T>G (p.Leu192Val) c.454T>G (p.Leu152Val) c.633T>G c.564T>G c.126T>G c.502T>G (p.Leu168Val) n.939T>G n.605T>G c.673T>G (p.Leu225Val) n.631T>G c.697T>G (p.Leu233Val) n.721T>G n.586T>G | |
| 1 | g.230995886T>A | CA1450517 | ARV1 | c.575T>A (p.Leu192Ter) c.455T>A (p.Leu152Ter) c.634T>A c.565T>A c.127T>A c.503T>A (p.Leu168Ter) n.940T>A n.606T>A c.674T>A (p.Leu225Ter) n.632T>A c.698T>A (p.Leu233Ter) n.722T>A n.587T>A | dbSNP ExAC gnomAD v2 |
| 1 | g.230995886T>C | CA345219840 | ARV1 | c.575T>C (p.Leu192Ser) c.455T>C (p.Leu152Ser) c.634T>C c.565T>C c.127T>C c.503T>C (p.Leu168Ser) n.940T>C n.606T>C c.674T>C (p.Leu225Ser) n.632T>C c.698T>C (p.Leu233Ser) n.722T>C n.587T>C | gnomAD v4 |
| 1 | g.230995886T>G | CA345219841 | ARV1 | c.575T>G (p.Leu192Trp) c.455T>G (p.Leu152Trp) c.634T>G c.565T>G c.127T>G c.503T>G (p.Leu168Trp) n.940T>G n.606T>G c.674T>G (p.Leu225Trp) n.632T>G c.698T>G (p.Leu233Trp) n.722T>G n.587T>G | |
| 1 | g.230995886T= | CA1143786326 | ARV1 | c.575T= (p.Leu192=) c.455T= (p.Leu152=) c.634T= c.565T= c.127T= c.503T= (p.Leu168=) n.940T= n.606T= c.674T= (p.Leu225=) n.632T= c.698T= (p.Leu233=) n.722T= n.587T= | |
| 1 | g.230995887G>A | CA423890471 | ARV1 | c.576G>A (p.Leu192=) c.456G>A (p.Leu152=) c.635G>A c.566G>A c.128G>A c.504G>A (p.Leu168=) n.941G>A n.607G>A c.675G>A (p.Leu225=) n.633G>A c.699G>A (p.Leu233=) n.723G>A n.588G>A | |
| 1 | g.230995887G>C | CA345219842 | ARV1 | c.576G>C (p.Leu192Phe) c.456G>C (p.Leu152Phe) c.635G>C c.566G>C c.128G>C c.504G>C (p.Leu168Phe) n.941G>C n.607G>C c.675G>C (p.Leu225Phe) n.633G>C c.699G>C (p.Leu233Phe) n.723G>C n.588G>C | |
| 1 | g.230995887G>T | CA345219843 | ARV1 | c.576G>T (p.Leu192Phe) c.456G>T (p.Leu152Phe) c.635G>T c.566G>T c.128G>T c.504G>T (p.Leu168Phe) n.941G>T n.607G>T c.675G>T (p.Leu225Phe) n.633G>T c.699G>T (p.Leu233Phe) n.723G>T n.588G>T | |
| 1 | g.230995888C>A | CA345219844 | ARV1 | c.577C>A (p.Leu193Met) c.457C>A (p.Leu153Met) c.636C>A c.567C>A c.129C>A c.505C>A (p.Leu169Met) n.942C>A n.608C>A c.676C>A (p.Leu226Met) n.634C>A c.700C>A (p.Leu234Met) n.724C>A n.589C>A | |
| 1 | g.230995888C>G | CA345219845 | ARV1 | c.577C>G (p.Leu193Val) c.457C>G (p.Leu153Val) c.636C>G c.567C>G c.129C>G c.505C>G (p.Leu169Val) n.942C>G n.608C>G c.676C>G (p.Leu226Val) n.634C>G c.700C>G (p.Leu234Val) n.724C>G n.589C>G | gnomAD v4 |
| 1 | g.230995888C>T | CA423890472 | ARV1 | c.577C>T (p.Leu193=) c.457C>T (p.Leu153=) c.636C>T c.567C>T c.129C>T c.505C>T (p.Leu169=) n.942C>T n.608C>T c.676C>T (p.Leu226=) n.634C>T c.700C>T (p.Leu234=) n.724C>T n.589C>T | |
| 1 | g.230995889T>A | CA345219846 | ARV1 | c.578T>A (p.Leu193Gln) c.458T>A (p.Leu153Gln) c.637T>A c.568T>A c.130T>A c.506T>A (p.Leu169Gln) n.943T>A n.609T>A c.677T>A (p.Leu226Gln) n.635T>A c.701T>A (p.Leu234Gln) n.725T>A n.590T>A | |
| 1 | g.230995889T>C | CA345219847 | ARV1 | c.578T>C (p.Leu193Pro) c.458T>C (p.Leu153Pro) c.637T>C c.568T>C c.130T>C c.506T>C (p.Leu169Pro) n.943T>C n.609T>C c.677T>C (p.Leu226Pro) n.635T>C c.701T>C (p.Leu234Pro) n.725T>C n.590T>C | |
| 1 | g.230995889T>G | CA345219848 | ARV1 | c.578T>G (p.Leu193Arg) c.458T>G (p.Leu153Arg) c.637T>G c.568T>G c.130T>G c.506T>G (p.Leu169Arg) n.943T>G n.609T>G c.677T>G (p.Leu226Arg) n.635T>G c.701T>G (p.Leu234Arg) n.725T>G n.590T>G | |
| 1 | g.230995890G>A | CA423890473 | ARV1 | c.579G>A (p.Leu193=) c.459G>A (p.Leu153=) c.638G>A c.569G>A c.131G>A c.507G>A (p.Leu169=) n.944G>A n.610G>A c.678G>A (p.Leu226=) n.636G>A c.702G>A (p.Leu234=) n.726G>A n.591G>A | |
| 1 | g.230995890G>C | CA423890474 | ARV1 | c.579G>C (p.Leu193=) c.459G>C (p.Leu153=) c.638G>C c.569G>C c.131G>C c.507G>C (p.Leu169=) n.944G>C n.610G>C c.678G>C (p.Leu226=) n.636G>C c.702G>C (p.Leu234=) n.726G>C n.591G>C | |
| 1 | g.230995890G>T | CA423890475 | ARV1 | c.579G>T (p.Leu193=) c.459G>T (p.Leu153=) c.638G>T c.569G>T c.131G>T c.507G>T (p.Leu169=) n.944G>T n.610G>T c.678G>T (p.Leu226=) n.636G>T c.702G>T (p.Leu234=) n.726G>T n.591G>T | gnomAD v4 |
| 1 | g.230995891A>C | CA345219850 | ARV1 | c.580A>C (p.Ile194Leu) c.460A>C (p.Ile154Leu) c.639A>C c.570A>C c.132A>C c.508A>C (p.Ile170Leu) n.945A>C n.611A>C c.679A>C (p.Ile227Leu) n.637A>C c.703A>C (p.Ile235Leu) n.727A>C n.592A>C | |
| 1 | g.230995891A>G | CA345219851 | ARV1 | c.580A>G (p.Ile194Val) c.460A>G (p.Ile154Val) c.639A>G c.570A>G c.132A>G c.508A>G (p.Ile170Val) n.945A>G n.611A>G c.679A>G (p.Ile227Val) n.637A>G c.703A>G (p.Ile235Val) n.727A>G n.592A>G | |
| 1 | g.230995891A>T | CA345219849 | ARV1 | c.580A>T (p.Ile194Phe) c.460A>T (p.Ile154Phe) c.639A>T c.570A>T c.132A>T c.508A>T (p.Ile170Phe) n.945A>T n.611A>T c.679A>T (p.Ile227Phe) n.637A>T c.703A>T (p.Ile235Phe) n.727A>T n.592A>T | |
| 1 | g.230995892T>A | CA345219852 | ARV1 | c.581T>A (p.Ile194Asn) c.461T>A (p.Ile154Asn) c.640T>A c.571T>A c.133T>A c.509T>A (p.Ile170Asn) n.946T>A n.612T>A c.680T>A (p.Ile227Asn) n.638T>A c.704T>A (p.Ile235Asn) n.728T>A n.593T>A | |
| 1 | g.230995892T>C | CA345219853 | ARV1 | c.581T>C (p.Ile194Thr) c.461T>C (p.Ile154Thr) c.640T>C c.571T>C c.133T>C c.509T>C (p.Ile170Thr) n.946T>C n.612T>C c.680T>C (p.Ile227Thr) n.638T>C c.704T>C (p.Ile235Thr) n.728T>C n.593T>C | |
| 1 | g.230995892T>G | CA345219854 | ARV1 | c.581T>G (p.Ile194Ser) c.461T>G (p.Ile154Ser) c.640T>G c.571T>G c.133T>G c.509T>G (p.Ile170Ser) n.946T>G n.612T>G c.680T>G (p.Ile227Ser) n.638T>G c.704T>G (p.Ile235Ser) n.728T>G n.593T>G | |
| 1 | g.230995893T>A | CA423890476 | ARV1 | c.582T>A (p.Ile194=) c.462T>A (p.Ile154=) c.641T>A c.572T>A c.134T>A c.510T>A (p.Ile170=) n.947T>A n.613T>A c.681T>A (p.Ile227=) n.639T>A c.705T>A (p.Ile235=) n.729T>A n.594T>A | |
| 1 | g.230995893T>C | CA423890477 | ARV1 | c.582T>C (p.Ile194=) c.462T>C (p.Ile154=) c.641T>C c.572T>C c.134T>C c.510T>C (p.Ile170=) n.947T>C n.613T>C c.681T>C (p.Ile227=) n.639T>C c.705T>C (p.Ile235=) n.729T>C n.594T>C | |
| 1 | g.230995893T>G | CA345219855 | ARV1 | c.582T>G (p.Ile194Met) c.462T>G (p.Ile154Met) c.641T>G c.572T>G c.134T>G c.510T>G (p.Ile170Met) n.947T>G n.613T>G c.681T>G (p.Ile227Met) n.639T>G c.705T>G (p.Ile235Met) n.729T>G n.594T>G | |
| 1 | g.230995894C>A | CA345219857 | ARV1 | c.583C>A (p.Pro195Thr) c.463C>A (p.Pro155Thr) c.642C>A c.573C>A c.135C>A c.511C>A (p.Pro171Thr) n.948C>A n.614C>A c.682C>A (p.Pro228Thr) n.640C>A c.706C>A (p.Pro236Thr) n.730C>A n.595C>A | |
| 1 | g.230995894C= | CA1226782618 | ARV1 | c.583C= (p.Pro195=) c.463C= (p.Pro155=) c.642C= c.573C= c.135C= c.511C= (p.Pro171=) n.948C= n.614C= c.682C= (p.Pro228=) n.640C= c.706C= (p.Pro236=) n.730C= n.595C= | |
| 1 | g.230995894C>G | CA1450518 | ARV1 | c.583C>G (p.Pro195Ala) c.463C>G (p.Pro155Ala) c.642C>G c.573C>G c.135C>G c.511C>G (p.Pro171Ala) n.948C>G n.614C>G c.682C>G (p.Pro228Ala) n.640C>G c.706C>G (p.Pro236Ala) n.730C>G n.595C>G | dbSNP ExAC gnomAD v2 |
| 1 | g.230995894C>T | CA345219856 | ARV1 | c.583C>T (p.Pro195Ser) c.463C>T (p.Pro155Ser) c.642C>T c.573C>T c.135C>T c.511C>T (p.Pro171Ser) n.948C>T n.614C>T c.682C>T (p.Pro228Ser) n.640C>T c.706C>T (p.Pro236Ser) n.730C>T n.595C>T | |
| 1 | g.230995895C>A | CA345219858 | ARV1 | c.584C>A (p.Pro195Gln) c.464C>A (p.Pro155Gln) c.643C>A c.574C>A c.136C>A c.512C>A (p.Pro171Gln) n.949C>A n.615C>A c.683C>A (p.Pro228Gln) n.641C>A c.707C>A (p.Pro236Gln) n.731C>A n.596C>A | |
| 1 | g.230995895C>G | CA345219859 | ARV1 | c.584C>G (p.Pro195Arg) c.464C>G (p.Pro155Arg) c.643C>G c.574C>G c.136C>G c.512C>G (p.Pro171Arg) n.949C>G n.615C>G c.683C>G (p.Pro228Arg) n.641C>G c.707C>G (p.Pro236Arg) n.731C>G n.596C>G | |
| 1 | g.230995895C>T | CA345219860 | ARV1 | c.584C>T (p.Pro195Leu) c.464C>T (p.Pro155Leu) c.643C>T c.574C>T c.136C>T c.512C>T (p.Pro171Leu) n.949C>T n.615C>T c.683C>T (p.Pro228Leu) n.641C>T c.707C>T (p.Pro236Leu) n.731C>T n.596C>T | |
| 1 | g.230995896A>C | CA423890480 | ARV1 | c.585A>C (p.Pro195=) c.465A>C (p.Pro155=) c.644A>C c.575A>C c.137A>C c.513A>C (p.Pro171=) n.950A>C n.616A>C c.684A>C (p.Pro228=) n.642A>C c.708A>C (p.Pro236=) n.732A>C n.597A>C | |
| 1 | g.230995896A>G | CA423890479 | ARV1 | c.585A>G (p.Pro195=) c.465A>G (p.Pro155=) c.644A>G c.575A>G c.137A>G c.513A>G (p.Pro171=) n.950A>G n.616A>G c.684A>G (p.Pro228=) n.642A>G c.708A>G (p.Pro236=) n.732A>G n.597A>G | |
| 1 | g.230995896A>T | CA423890478 | ARV1 | c.585A>T (p.Pro195=) c.465A>T (p.Pro155=) c.644A>T c.575A>T c.137A>T c.513A>T (p.Pro171=) n.950A>T n.616A>T c.684A>T (p.Pro228=) n.642A>T c.708A>T (p.Pro236=) n.732A>T n.597A>T | |
| 1 | g.230995897G>A | CA345219861 | ARV1 | c.586G>A (p.Ala196Thr) c.466G>A (p.Ala156Thr) c.645G>A c.576G>A c.138G>A c.514G>A (p.Ala172Thr) n.951G>A n.617G>A c.685G>A (p.Ala229Thr) n.643G>A c.709G>A (p.Ala237Thr) n.733G>A n.598G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230995897G>C | CA345219862 | ARV1 | c.586G>C (p.Ala196Pro) c.466G>C (p.Ala156Pro) c.645G>C c.576G>C c.138G>C c.514G>C (p.Ala172Pro) n.951G>C n.617G>C c.685G>C (p.Ala229Pro) n.643G>C c.709G>C (p.Ala237Pro) n.733G>C n.598G>C | gnomAD v4 |
| 1 | g.230995897G= | CA1226782620 | ARV1 | c.586G= (p.Ala196=) c.466G= (p.Ala156=) c.645G= c.576G= c.138G= c.514G= (p.Ala172=) n.951G= n.617G= c.685G= (p.Ala229=) n.643G= c.709G= (p.Ala237=) n.733G= n.598G= | |
| 1 | g.230995897G>T | CA345219863 | ARV1 | c.586G>T (p.Ala196Ser) c.466G>T (p.Ala156Ser) c.645G>T c.576G>T c.138G>T c.514G>T (p.Ala172Ser) n.951G>T n.617G>T c.685G>T (p.Ala229Ser) n.643G>T c.709G>T (p.Ala237Ser) n.733G>T n.598G>T | |
| 1 | g.230995898C>A | CA345219864 | ARV1 | c.587C>A (p.Ala196Asp) c.467C>A (p.Ala156Asp) c.646C>A c.577C>A c.139C>A c.515C>A (p.Ala172Asp) n.952C>A n.618C>A c.686C>A (p.Ala229Asp) n.644C>A c.710C>A (p.Ala237Asp) n.734C>A n.599C>A | |
| 1 | g.230995898C= | CA1226782622 | ARV1 | c.587C= (p.Ala196=) c.467C= (p.Ala156=) c.646C= c.577C= c.139C= c.515C= (p.Ala172=) n.952C= n.618C= c.686C= (p.Ala229=) n.644C= c.710C= (p.Ala237=) n.734C= n.599C= | |
| 1 | g.230995898C>G | CA345219866 | ARV1 | c.587C>G (p.Ala196Gly) c.467C>G (p.Ala156Gly) c.646C>G c.577C>G c.139C>G c.515C>G (p.Ala172Gly) n.952C>G n.618C>G c.686C>G (p.Ala229Gly) n.644C>G c.710C>G (p.Ala237Gly) n.734C>G n.599C>G | |
| 1 | g.230995898C>T | CA345219865 | ARV1 | c.587C>T (p.Ala196Val) c.467C>T (p.Ala156Val) c.646C>T c.577C>T c.139C>T c.515C>T (p.Ala172Val) n.952C>T n.618C>T c.686C>T (p.Ala229Val) n.644C>T c.710C>T (p.Ala237Val) n.734C>T n.599C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230995899T>A | CA423890481 | ARV1 | c.588T>A (p.Ala196=) c.468T>A (p.Ala156=) c.647T>A c.578T>A c.140T>A c.516T>A (p.Ala172=) n.953T>A n.619T>A c.687T>A (p.Ala229=) n.645T>A c.711T>A (p.Ala237=) n.735T>A n.600T>A | |
| 1 | g.230995899T>C | CA423890482 | ARV1 | c.588T>C (p.Ala196=) c.468T>C (p.Ala156=) c.647T>C c.578T>C c.140T>C c.516T>C (p.Ala172=) n.953T>C n.619T>C c.687T>C (p.Ala229=) n.645T>C c.711T>C (p.Ala237=) n.735T>C n.600T>C | gnomAD v4 |
| 1 | g.230995899T>G | CA423890483 | ARV1 | c.588T>G (p.Ala196=) c.468T>G (p.Ala156=) c.647T>G c.578T>G c.140T>G c.516T>G (p.Ala172=) n.953T>G n.619T>G c.687T>G (p.Ala229=) n.645T>G c.711T>G (p.Ala237=) n.735T>G n.600T>G | |
| 1 | g.230995900G>A | CA345219867 | ARV1 | c.589G>A (p.Val197Ile) c.469G>A (p.Val157Ile) c.648G>A c.579G>A c.141G>A c.517G>A (p.Val173Ile) n.954G>A n.620G>A c.688G>A (p.Val230Ile) n.646G>A c.712G>A (p.Val238Ile) n.736G>A n.601G>A | |
| 1 | g.230995900G>C | CA345219868 | ARV1 | c.589G>C (p.Val197Leu) c.469G>C (p.Val157Leu) c.648G>C c.579G>C c.141G>C c.517G>C (p.Val173Leu) n.954G>C n.620G>C c.688G>C (p.Val230Leu) n.646G>C c.712G>C (p.Val238Leu) n.736G>C n.601G>C | gnomAD v4 |
| 1 | g.230995900G>T | CA345219869 | ARV1 | c.589G>T (p.Val197Phe) c.469G>T (p.Val157Phe) c.648G>T c.579G>T c.141G>T c.517G>T (p.Val173Phe) n.954G>T n.620G>T c.688G>T (p.Val230Phe) n.646G>T c.712G>T (p.Val238Phe) n.736G>T n.601G>T | |
| 1 | g.230995901T>A | CA345219870 | ARV1 | c.590T>A (p.Val197Asp) c.470T>A (p.Val157Asp) c.649T>A c.580T>A c.142T>A c.518T>A (p.Val173Asp) n.955T>A n.621T>A c.689T>A (p.Val230Asp) n.647T>A c.713T>A (p.Val238Asp) n.737T>A n.602T>A | |
| 1 | g.230995901T>C | CA345219871 | ARV1 | c.590T>C (p.Val197Ala) c.470T>C (p.Val157Ala) c.649T>C c.580T>C c.142T>C c.518T>C (p.Val173Ala) n.955T>C n.621T>C c.689T>C (p.Val230Ala) n.647T>C c.713T>C (p.Val238Ala) n.737T>C n.602T>C | |
| 1 | g.230995901T>G | CA345219872 | ARV1 | c.590T>G (p.Val197Gly) c.470T>G (p.Val157Gly) c.649T>G c.580T>G c.142T>G c.518T>G (p.Val173Gly) n.955T>G n.621T>G c.689T>G (p.Val230Gly) n.647T>G c.713T>G (p.Val238Gly) n.737T>G n.602T>G | |
| 1 | g.230995902C>A | CA423890486 | ARV1 | c.591C>A (p.Val197=) c.471C>A (p.Val157=) c.650C>A c.581C>A c.143C>A c.519C>A (p.Val173=) n.956C>A n.622C>A c.690C>A (p.Val230=) n.648C>A c.714C>A (p.Val238=) n.738C>A n.603C>A | |
| 1 | g.230995902C= | CA1226782624 | ARV1 | c.591C= (p.Val197=) c.471C= (p.Val157=) c.650C= c.581C= c.143C= c.519C= (p.Val173=) n.956C= n.622C= c.690C= (p.Val230=) n.648C= c.714C= (p.Val238=) n.738C= n.603C= | |
| 1 | g.230995902C>G | CA423890484 | ARV1 | c.591C>G (p.Val197=) c.471C>G (p.Val157=) c.650C>G c.581C>G c.143C>G c.519C>G (p.Val173=) n.956C>G n.622C>G c.690C>G (p.Val230=) n.648C>G c.714C>G (p.Val238=) n.738C>G n.603C>G | |
| 1 | g.230995902C>T | CA423890485 | ARV1 | c.591C>T (p.Val197=) c.471C>T (p.Val157=) c.650C>T c.581C>T c.143C>T c.519C>T (p.Val173=) n.956C>T n.622C>T c.690C>T (p.Val230=) n.648C>T c.714C>T (p.Val238=) n.738C>T n.603C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230995903A>C | CA345219873 | ARV1 | c.592A>C (p.Ile198Leu) c.472A>C (p.Ile158Leu) c.651A>C c.582A>C c.144A>C c.520A>C (p.Ile174Leu) n.957A>C n.623A>C c.691A>C (p.Ile231Leu) n.649A>C c.715A>C (p.Ile239Leu) n.739A>C n.604A>C | |
| 1 | g.230995903A>G | CA345219874 | ARV1 | c.592A>G (p.Ile198Val) c.472A>G (p.Ile158Val) c.651A>G c.582A>G c.144A>G c.520A>G (p.Ile174Val) n.957A>G n.623A>G c.691A>G (p.Ile231Val) n.649A>G c.715A>G (p.Ile239Val) n.739A>G n.604A>G | |
| 1 | g.230995903A>T | CA345219875 | ARV1 | c.592A>T (p.Ile198Phe) c.472A>T (p.Ile158Phe) c.651A>T c.582A>T c.144A>T c.520A>T (p.Ile174Phe) n.957A>T n.623A>T c.691A>T (p.Ile231Phe) n.649A>T c.715A>T (p.Ile239Phe) n.739A>T n.604A>T | |
| 1 | g.230995904T>A | CA345219876 | ARV1 | c.593T>A (p.Ile198Asn) c.473T>A (p.Ile158Asn) c.652T>A c.583T>A c.145T>A c.521T>A (p.Ile174Asn) n.958T>A n.624T>A c.692T>A (p.Ile231Asn) n.650T>A c.716T>A (p.Ile239Asn) n.740T>A n.605T>A | |
| 1 | g.230995904T>C | CA345219877 | ARV1 | c.593T>C (p.Ile198Thr) c.473T>C (p.Ile158Thr) c.652T>C c.583T>C c.145T>C c.521T>C (p.Ile174Thr) n.958T>C n.624T>C c.692T>C (p.Ile231Thr) n.650T>C c.716T>C (p.Ile239Thr) n.740T>C n.605T>C | gnomAD v4 |
| 1 | g.230995904T>G | CA345219878 | ARV1 | c.593T>G (p.Ile198Ser) c.473T>G (p.Ile158Ser) c.652T>G c.583T>G c.145T>G c.521T>G (p.Ile174Ser) n.958T>G n.624T>G c.692T>G (p.Ile231Ser) n.650T>G c.716T>G (p.Ile239Ser) n.740T>G n.605T>G | |
| 1 | g.230995905_230995906del | CA2586968427 | ARV1 | c.594_595del (p.Ile198MetfsTer4) c.474_475del (p.Ile158MetfsTer4) c.653_654del c.584_585del c.146_147del c.522_523del (p.Ile174MetfsTer4) n.959_960del n.625_626del c.693_694del (p.Ile231MetfsTer4) n.651_652del c.717_718del (p.Ile239MetfsTer4) n.741_742del n.606_607del | ClinVar |
| 1 | g.230995905T>A | CA423890487 | ARV1 | c.594T>A (p.Ile198=) c.474T>A (p.Ile158=) c.653T>A c.584T>A c.146T>A c.522T>A (p.Ile174=) n.959T>A n.625T>A c.693T>A (p.Ile231=) n.651T>A c.717T>A (p.Ile239=) n.741T>A n.606T>A | |
| 1 | g.230995905T>C | CA423890488 | ARV1 | c.594T>C (p.Ile198=) c.474T>C (p.Ile158=) c.653T>C c.584T>C c.146T>C c.522T>C (p.Ile174=) n.959T>C n.625T>C c.693T>C (p.Ile231=) n.651T>C c.717T>C (p.Ile239=) n.741T>C n.606T>C | dbSNP |
| 1 | g.230995905T>G | CA345219879 | ARV1 | c.594T>G (p.Ile198Met) c.474T>G (p.Ile158Met) c.653T>G c.584T>G c.146T>G c.522T>G (p.Ile174Met) n.959T>G n.625T>G c.693T>G (p.Ile231Met) n.651T>G c.717T>G (p.Ile239Met) n.741T>G n.606T>G | |
| 1 | g.230995905T= | CA1226782626 | ARV1 | c.594T= (p.Ile198=) c.474T= (p.Ile158=) c.653T= c.584T= c.146T= c.522T= (p.Ile174=) n.959T= n.625T= c.693T= (p.Ile231=) n.651T= c.717T= (p.Ile239=) n.741T= n.606T= | |
| 1 | g.230995906T>A | CA345219881 | ARV1 | c.595T>A (p.Trp199Arg) c.475T>A (p.Trp159Arg) c.654T>A c.585T>A c.147T>A c.523T>A (p.Trp175Arg) n.960T>A n.626T>A c.694T>A (p.Trp232Arg) n.652T>A c.718T>A (p.Trp240Arg) n.742T>A n.607T>A | |
| 1 | g.230995906T>C | CA345219880 | ARV1 | c.595T>C (p.Trp199Arg) c.475T>C (p.Trp159Arg) c.654T>C c.585T>C c.147T>C c.523T>C (p.Trp175Arg) n.960T>C n.626T>C c.694T>C (p.Trp232Arg) n.652T>C c.718T>C (p.Trp240Arg) n.742T>C n.607T>C | gnomAD v4 COSMIC |
| 1 | g.230995906T>G | CA345219882 | ARV1 | c.595T>G (p.Trp199Gly) c.475T>G (p.Trp159Gly) c.654T>G c.585T>G c.147T>G c.523T>G (p.Trp175Gly) n.960T>G n.626T>G c.694T>G (p.Trp232Gly) n.652T>G c.718T>G (p.Trp240Gly) n.742T>G n.607T>G | |
| 1 | g.230995907G>A | CA1450519 | ARV1 | c.596G>A (p.Trp199Ter) c.476G>A (p.Trp159Ter) c.655G>A c.586G>A c.148G>A c.524G>A (p.Trp175Ter) n.961G>A n.627G>A c.695G>A (p.Trp232Ter) n.653G>A c.719G>A (p.Trp240Ter) n.743G>A n.608G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230995907G>C | CA345219883 | ARV1 | c.596G>C (p.Trp199Ser) c.476G>C (p.Trp159Ser) c.655G>C c.586G>C c.148G>C c.524G>C (p.Trp175Ser) n.961G>C n.627G>C c.695G>C (p.Trp232Ser) n.653G>C c.719G>C (p.Trp240Ser) n.743G>C n.608G>C | |
| 1 | g.230995907G= | CA1226782628 | ARV1 | c.596G= (p.Trp199=) c.476G= (p.Trp159=) c.655G= c.586G= c.148G= c.524G= (p.Trp175=) n.961G= n.627G= c.695G= (p.Trp232=) n.653G= c.719G= (p.Trp240=) n.743G= n.608G= | |
| 1 | g.230995907G>T | CA345219884 | ARV1 | c.596G>T (p.Trp199Leu) c.476G>T (p.Trp159Leu) c.655G>T c.586G>T c.148G>T c.524G>T (p.Trp175Leu) n.961G>T n.627G>T c.695G>T (p.Trp232Leu) n.653G>T c.719G>T (p.Trp240Leu) n.743G>T n.608G>T | |
| 1 | g.230995908G>A | CA345219885 | ARV1 | c.597G>A (p.Trp199Ter) c.477G>A (p.Trp159Ter) c.656G>A c.587G>A c.149G>A c.525G>A (p.Trp175Ter) n.962G>A n.628G>A c.696G>A (p.Trp232Ter) n.654G>A c.720G>A (p.Trp240Ter) n.744G>A n.609G>A | |
| 1 | g.230995908G>C | CA345219886 | ARV1 | c.597G>C (p.Trp199Cys) c.477G>C (p.Trp159Cys) c.656G>C c.587G>C c.149G>C c.525G>C (p.Trp175Cys) n.962G>C n.628G>C c.696G>C (p.Trp232Cys) n.654G>C c.720G>C (p.Trp240Cys) n.744G>C n.609G>C | |
| 1 | g.230995908G>T | CA345219887 | ARV1 | c.597G>T (p.Trp199Cys) c.477G>T (p.Trp159Cys) c.656G>T c.587G>T c.149G>T c.525G>T (p.Trp175Cys) n.962G>T n.628G>T c.696G>T (p.Trp232Cys) n.654G>T c.720G>T (p.Trp240Cys) n.744G>T n.609G>T | |
| 1 | g.230995909G>A | CA345219888 | ARV1 | c.598G>A (p.Glu200Lys) c.478G>A (p.Glu160Lys) c.657G>A c.588G>A c.150G>A c.526G>A (p.Glu176Lys) n.963G>A n.629G>A c.697G>A (p.Glu233Lys) n.655G>A c.721G>A (p.Glu241Lys) n.745G>A n.610G>A | |
| 1 | g.230995909G>C | CA345219889 | ARV1 | c.598G>C (p.Glu200Gln) c.478G>C (p.Glu160Gln) c.657G>C c.588G>C c.150G>C c.526G>C (p.Glu176Gln) n.963G>C n.629G>C c.697G>C (p.Glu233Gln) n.655G>C c.721G>C (p.Glu241Gln) n.745G>C n.610G>C | |
| 1 | g.230995909G>T | CA345219890 | ARV1 | c.598G>T (p.Glu200Ter) c.478G>T (p.Glu160Ter) c.657G>T c.588G>T c.150G>T c.526G>T (p.Glu176Ter) n.963G>T n.629G>T c.697G>T (p.Glu233Ter) n.655G>T c.721G>T (p.Glu241Ter) n.745G>T n.610G>T | |
| 1 | g.230995910A>C | CA345219891 | ARV1 | c.599A>C (p.Glu200Ala) c.479A>C (p.Glu160Ala) c.658A>C c.589A>C c.151A>C c.527A>C (p.Glu176Ala) n.964A>C n.630A>C c.698A>C (p.Glu233Ala) n.656A>C c.722A>C (p.Glu241Ala) n.746A>C n.611A>C | |
| 1 | g.230995910A>G | CA345219892 | ARV1 | c.599A>G (p.Glu200Gly) c.479A>G (p.Glu160Gly) c.658A>G c.589A>G c.151A>G c.527A>G (p.Glu176Gly) n.964A>G n.630A>G c.698A>G (p.Glu233Gly) n.656A>G c.722A>G (p.Glu241Gly) n.746A>G n.611A>G | |
| 1 | g.230995910A>T | CA345219893 | ARV1 | c.599A>T (p.Glu200Val) c.479A>T (p.Glu160Val) c.658A>T c.589A>T c.151A>T c.527A>T (p.Glu176Val) n.964A>T n.630A>T c.698A>T (p.Glu233Val) n.656A>T c.722A>T (p.Glu241Val) n.746A>T n.611A>T | |
| 1 | g.230995911A>C | CA345219894 | ARV1 | c.600A>C (p.Glu200Asp) c.480A>C (p.Glu160Asp) c.659A>C c.590A>C c.152A>C c.528A>C (p.Glu176Asp) n.965A>C n.631A>C c.699A>C (p.Glu233Asp) n.657A>C c.723A>C (p.Glu241Asp) n.747A>C n.612A>C | |
| 1 | g.230995911A>G | CA423890489 | ARV1 | c.600A>G (p.Glu200=) c.480A>G (p.Glu160=) c.659A>G c.590A>G c.152A>G c.528A>G (p.Glu176=) n.965A>G n.631A>G c.699A>G (p.Glu233=) n.657A>G c.723A>G (p.Glu241=) n.747A>G n.612A>G | |
| 1 | g.230995911A>T | CA345219895 | ARV1 | c.600A>T (p.Glu200Asp) c.480A>T (p.Glu160Asp) c.659A>T c.590A>T c.152A>T c.528A>T (p.Glu176Asp) n.965A>T n.631A>T c.699A>T (p.Glu233Asp) n.657A>T c.723A>T (p.Glu241Asp) n.747A>T n.612A>T | |
| 1 | g.230995912C>A | CA345219896 | ARV1 | c.601C>A (p.His201Asn) c.481C>A (p.His161Asn) c.660C>A c.591C>A c.153C>A c.529C>A (p.His177Asn) n.966C>A n.632C>A c.700C>A (p.His234Asn) n.658C>A c.724C>A (p.His242Asn) n.748C>A n.613C>A | |
| 1 | g.230995912C= | CA1226782630 | ARV1 | c.601C= (p.His201=) c.481C= (p.His161=) c.660C= c.591C= c.153C= c.529C= (p.His177=) n.966C= n.632C= c.700C= (p.His234=) n.658C= c.724C= (p.His242=) n.748C= n.613C= | |
| 1 | g.230995912C>G | CA345219897 | ARV1 | c.601C>G (p.His201Asp) c.481C>G (p.His161Asp) c.660C>G c.591C>G c.153C>G c.529C>G (p.His177Asp) n.966C>G n.632C>G c.700C>G (p.His234Asp) n.658C>G c.724C>G (p.His242Asp) n.748C>G n.613C>G | |
| 1 | g.230995912C>T | CA38907285 | ARV1 | c.601C>T (p.His201Tyr) c.481C>T (p.His161Tyr) c.660C>T c.591C>T c.153C>T c.529C>T (p.His177Tyr) n.966C>T n.632C>T c.700C>T (p.His234Tyr) n.658C>T c.724C>T (p.His242Tyr) n.748C>T n.613C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230995913A= | CA1226782632 | ARV1 | c.602A= (p.His201=) c.482A= (p.His161=) c.661A= c.592A= c.154A= c.530A= (p.His177=) n.967A= n.633A= c.701A= (p.His234=) n.659A= c.725A= (p.His242=) n.749A= n.614A= | |
| 1 | g.230995913A>C | CA345219898 | ARV1 | c.602A>C (p.His201Pro) c.482A>C (p.His161Pro) c.661A>C c.592A>C c.154A>C c.530A>C (p.His177Pro) n.967A>C n.633A>C c.701A>C (p.His234Pro) n.659A>C c.725A>C (p.His242Pro) n.749A>C n.614A>C | |
| 1 | g.230995913A>G | CA1450520 | ARV1 | c.602A>G (p.His201Arg) c.482A>G (p.His161Arg) c.661A>G c.592A>G c.154A>G c.530A>G (p.His177Arg) n.967A>G n.633A>G c.701A>G (p.His234Arg) n.659A>G c.725A>G (p.His242Arg) n.749A>G n.614A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230995913A>T | CA345219899 | ARV1 | c.602A>T (p.His201Leu) c.482A>T (p.His161Leu) c.661A>T c.592A>T c.154A>T c.530A>T (p.His177Leu) n.967A>T n.633A>T c.701A>T (p.His234Leu) n.659A>T c.725A>T (p.His242Leu) n.749A>T n.614A>T | |
| 1 | g.230995914T>A | CA345219900 | ARV1 | c.603T>A (p.His201Gln) c.483T>A (p.His161Gln) c.662T>A c.593T>A c.155T>A c.531T>A (p.His177Gln) n.968T>A n.634T>A c.702T>A (p.His234Gln) n.660T>A c.726T>A (p.His242Gln) n.750T>A n.615T>A | |
| 1 | g.230995914T>C | CA423890490 | ARV1 | c.603T>C (p.His201=) c.483T>C (p.His161=) c.662T>C c.593T>C c.155T>C c.531T>C (p.His177=) n.968T>C n.634T>C c.702T>C (p.His234=) n.660T>C c.726T>C (p.His242=) n.750T>C n.615T>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230995914T>G | CA345219901 | ARV1 | c.603T>G (p.His201Gln) c.483T>G (p.His161Gln) c.662T>G c.593T>G c.155T>G c.531T>G (p.His177Gln) n.968T>G n.634T>G c.702T>G (p.His234Gln) n.660T>G c.726T>G (p.His242Gln) n.750T>G n.615T>G | |
| 1 | g.230995914T= | CA1226782635 | ARV1 | c.603T= (p.His201=) c.483T= (p.His161=) c.662T= c.593T= c.155T= c.531T= (p.His177=) n.968T= n.634T= c.702T= (p.His234=) n.660T= c.726T= (p.His242=) n.750T= n.615T= | |
| 1 | g.230995915G>A | CA345219902 | ARV1 | c.604G>A (p.Asp202Asn) c.484G>A (p.Asp162Asn) c.663G>A c.594G>A c.156G>A c.532G>A (p.Asp178Asn) n.969G>A n.635G>A c.703G>A (p.Asp235Asn) n.661G>A c.727G>A (p.Asp243Asn) n.751G>A n.616G>A | |
| 1 | g.230995915G>C | CA345219903 | ARV1 | c.604G>C (p.Asp202His) c.484G>C (p.Asp162His) c.663G>C c.594G>C c.156G>C c.532G>C (p.Asp178His) n.969G>C n.635G>C c.703G>C (p.Asp235His) n.661G>C c.727G>C (p.Asp243His) n.751G>C n.616G>C | |
| 1 | g.230995915G>T | CA345219904 | ARV1 | c.604G>T (p.Asp202Tyr) c.484G>T (p.Asp162Tyr) c.663G>T c.594G>T c.156G>T c.532G>T (p.Asp178Tyr) n.969G>T n.635G>T c.703G>T (p.Asp235Tyr) n.661G>T c.727G>T (p.Asp243Tyr) n.751G>T n.616G>T | |
| 1 | g.230995916A>C | CA345219906 | ARV1 | c.605A>C (p.Asp202Ala) c.485A>C (p.Asp162Ala) c.664A>C c.595A>C c.157A>C c.533A>C (p.Asp178Ala) n.970A>C n.636A>C c.704A>C (p.Asp235Ala) n.662A>C c.728A>C (p.Asp243Ala) n.752A>C n.617A>C | |
| 1 | g.230995916A>G | CA345219907 | ARV1 | c.605A>G (p.Asp202Gly) c.485A>G (p.Asp162Gly) c.664A>G c.595A>G c.157A>G c.533A>G (p.Asp178Gly) n.970A>G n.636A>G c.704A>G (p.Asp235Gly) n.662A>G c.728A>G (p.Asp243Gly) n.752A>G n.617A>G | gnomAD v4 |
| 1 | g.230995916A>T | CA345219905 | ARV1 | c.605A>T (p.Asp202Val) c.485A>T (p.Asp162Val) c.664A>T c.595A>T c.157A>T c.533A>T (p.Asp178Val) n.970A>T n.636A>T c.704A>T (p.Asp235Val) n.662A>T c.728A>T (p.Asp243Val) n.752A>T n.617A>T | |
| 1 | g.230995917C>A | CA345219908 | ARV1 | c.606C>A (p.Asp202Glu) c.486C>A (p.Asp162Glu) c.665C>A c.596C>A c.158C>A c.534C>A (p.Asp178Glu) n.971C>A n.637C>A c.705C>A (p.Asp235Glu) n.663C>A c.729C>A (p.Asp243Glu) n.753C>A n.618C>A | |
| 1 | g.230995917C>G | CA345219909 | ARV1 | c.606C>G (p.Asp202Glu) c.486C>G (p.Asp162Glu) c.665C>G c.596C>G c.158C>G c.534C>G (p.Asp178Glu) n.971C>G n.637C>G c.705C>G (p.Asp235Glu) n.663C>G c.729C>G (p.Asp243Glu) n.753C>G n.618C>G | |
| 1 | g.230995917C>T | CA423890491 | ARV1 | c.606C>T (p.Asp202=) c.486C>T (p.Asp162=) c.665C>T c.596C>T c.158C>T c.534C>T (p.Asp178=) n.971C>T n.637C>T c.705C>T (p.Asp235=) n.663C>T c.729C>T (p.Asp243=) n.753C>T n.618C>T | gnomAD v4 |
| 1 | g.230995918T>A | CA345219910 | ARV1 | c.607T>A (p.Tyr203Asn) c.487T>A (p.Tyr163Asn) c.666T>A c.597T>A c.159T>A c.535T>A (p.Tyr179Asn) n.972T>A n.638T>A c.706T>A (p.Tyr236Asn) n.664T>A c.730T>A (p.Tyr244Asn) n.754T>A n.619T>A | |
| 1 | g.230995918T>C | CA345219911 | ARV1 | c.607T>C (p.Tyr203His) c.487T>C (p.Tyr163His) c.666T>C c.597T>C c.159T>C c.535T>C (p.Tyr179His) n.972T>C n.638T>C c.706T>C (p.Tyr236His) n.664T>C c.730T>C (p.Tyr244His) n.754T>C n.619T>C | |
| 1 | g.230995918T>G | CA345219912 | ARV1 | c.607T>G (p.Tyr203Asp) c.487T>G (p.Tyr163Asp) c.666T>G c.597T>G c.159T>G c.535T>G (p.Tyr179Asp) n.972T>G n.638T>G c.706T>G (p.Tyr236Asp) n.664T>G c.730T>G (p.Tyr244Asp) n.754T>G n.619T>G | |
| 1 | g.230995919A>C | CA345219913 | ARV1 | c.608A>C (p.Tyr203Ser) c.488A>C (p.Tyr163Ser) c.667A>C c.598A>C c.160A>C c.536A>C (p.Tyr179Ser) n.973A>C n.639A>C c.707A>C (p.Tyr236Ser) n.665A>C c.731A>C (p.Tyr244Ser) n.755A>C n.620A>C | gnomAD v4 |
| 1 | g.230995919A>G | CA345219914 | ARV1 | c.608A>G (p.Tyr203Cys) c.488A>G (p.Tyr163Cys) c.667A>G c.598A>G c.160A>G c.536A>G (p.Tyr179Cys) n.973A>G n.639A>G c.707A>G (p.Tyr236Cys) n.665A>G c.731A>G (p.Tyr244Cys) n.755A>G n.620A>G | |
| 1 | g.230995919A>T | CA345219915 | ARV1 | c.608A>T (p.Tyr203Phe) c.488A>T (p.Tyr163Phe) c.667A>T c.598A>T c.160A>T c.536A>T (p.Tyr179Phe) n.973A>T n.639A>T c.707A>T (p.Tyr236Phe) n.665A>T c.731A>T (p.Tyr244Phe) n.755A>T n.620A>T | |
| 1 | g.230995920C>A | CA345219916 | ARV1 | c.609C>A (p.Tyr203Ter) c.489C>A (p.Tyr163Ter) c.668C>A c.599C>A c.161C>A c.537C>A (p.Tyr179Ter) n.974C>A n.640C>A c.708C>A (p.Tyr236Ter) n.666C>A c.732C>A (p.Tyr244Ter) n.756C>A n.621C>A | |
| 1 | g.230995920C= | CA1226782636 | ARV1 | c.609C= (p.Tyr203=) c.489C= (p.Tyr163=) c.668C= c.599C= c.161C= c.537C= (p.Tyr179=) n.974C= n.640C= c.708C= (p.Tyr236=) n.666C= c.732C= (p.Tyr244=) n.756C= n.621C= | |
| 1 | g.230995920C>G | CA345219917 | ARV1 | c.609C>G (p.Tyr203Ter) c.489C>G (p.Tyr163Ter) c.668C>G c.599C>G c.161C>G c.537C>G (p.Tyr179Ter) n.974C>G n.640C>G c.708C>G (p.Tyr236Ter) n.666C>G c.732C>G (p.Tyr244Ter) n.756C>G n.621C>G | |
| 1 | g.230995920C>T | CA423890492 | ARV1 | c.609C>T (p.Tyr203=) c.489C>T (p.Tyr163=) c.668C>T c.599C>T c.161C>T c.537C>T (p.Tyr179=) n.974C>T n.640C>T c.708C>T (p.Tyr236=) n.666C>T c.732C>T (p.Tyr244=) n.756C>T n.621C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230995921A>C | CA345219918 | ARV1 | c.610A>C (p.Thr204Pro) c.490A>C (p.Thr164Pro) c.669A>C c.600A>C c.162A>C c.538A>C (p.Thr180Pro) n.975A>C n.641A>C c.709A>C (p.Thr237Pro) n.667A>C c.733A>C (p.Thr245Pro) n.757A>C n.622A>C | |
| 1 | g.230995921A>G | CA345219919 | ARV1 | c.610A>G (p.Thr204Ala) c.490A>G (p.Thr164Ala) c.669A>G c.600A>G c.162A>G c.538A>G (p.Thr180Ala) n.975A>G n.641A>G c.709A>G (p.Thr237Ala) n.667A>G c.733A>G (p.Thr245Ala) n.757A>G n.622A>G | |
| 1 | g.230995921A>T | CA345219920 | ARV1 | c.610A>T (p.Thr204Ser) c.490A>T (p.Thr164Ser) c.669A>T c.600A>T c.162A>T c.538A>T (p.Thr180Ser) n.975A>T n.641A>T c.709A>T (p.Thr237Ser) n.667A>T c.733A>T (p.Thr245Ser) n.757A>T n.622A>T | |
| 1 | g.230995922C>A | CA345219923 | ARV1 | c.611C>A (p.Thr204Lys) c.491C>A (p.Thr164Lys) c.670C>A c.601C>A c.163C>A c.539C>A (p.Thr180Lys) n.976C>A n.642C>A c.710C>A (p.Thr237Lys) n.668C>A c.734C>A (p.Thr245Lys) n.758C>A n.623C>A | |
| 1 | g.230995922C= | CA1226782639 | ARV1 | c.611C= (p.Thr204=) c.491C= (p.Thr164=) c.670C= c.601C= c.163C= c.539C= (p.Thr180=) n.976C= n.642C= c.710C= (p.Thr237=) n.668C= c.734C= (p.Thr245=) n.758C= n.623C= | |
| 1 | g.230995922C>G | CA345219922 | ARV1 | c.611C>G (p.Thr204Arg) c.491C>G (p.Thr164Arg) c.670C>G c.601C>G c.163C>G c.539C>G (p.Thr180Arg) n.976C>G n.642C>G c.710C>G (p.Thr237Arg) n.668C>G c.734C>G (p.Thr245Arg) n.758C>G n.623C>G | |
| 1 | g.230995922C>T | CA345219921 | ARV1 | c.611C>T (p.Thr204Ile) c.491C>T (p.Thr164Ile) c.670C>T c.601C>T c.163C>T c.539C>T (p.Thr180Ile) n.976C>T n.642C>T c.710C>T (p.Thr237Ile) n.668C>T c.734C>T (p.Thr245Ile) n.758C>T n.623C>T | dbSNP gnomAD v4 |
| 1 | g.230995923A= | CA1226782641 | ARV1 | c.612A= (p.Thr204=) c.492A= (p.Thr164=) c.671A= c.602A= c.164A= c.540A= (p.Thr180=) n.977A= n.643A= c.711A= (p.Thr237=) n.669A= c.735A= (p.Thr245=) n.759A= n.624A= | |
| 1 | g.230995923A>C | CA423890493 | ARV1 | c.612A>C (p.Thr204=) c.492A>C (p.Thr164=) c.671A>C c.602A>C c.164A>C c.540A>C (p.Thr180=) n.977A>C n.643A>C c.711A>C (p.Thr237=) n.669A>C c.735A>C (p.Thr245=) n.759A>C n.624A>C | |
| 1 | g.230995923A>G | CA423890494 | ARV1 | c.612A>G (p.Thr204=) c.492A>G (p.Thr164=) c.671A>G c.602A>G c.164A>G c.540A>G (p.Thr180=) n.977A>G n.643A>G c.711A>G (p.Thr237=) n.669A>G c.735A>G (p.Thr245=) n.759A>G n.624A>G | dbSNP gnomAD v4 |
| 1 | g.230995923A>T | CA423890495 | ARV1 | c.612A>T (p.Thr204=) c.492A>T (p.Thr164=) c.671A>T c.602A>T c.164A>T c.540A>T (p.Thr180=) n.977A>T n.643A>T c.711A>T (p.Thr237=) n.669A>T c.735A>T (p.Thr245=) n.759A>T n.624A>T | |
| 1 | g.230995924T>A | CA345219924 | ARV1 | c.613T>A (p.Ser205Thr) c.493T>A (p.Ser165Thr) c.672T>A c.603T>A c.165T>A c.541T>A (p.Ser181Thr) n.978T>A n.644T>A c.712T>A (p.Ser238Thr) n.670T>A c.736T>A (p.Ser246Thr) n.760T>A n.625T>A | |
| 1 | g.230995924T>C | CA345219925 | ARV1 | c.613T>C (p.Ser205Pro) c.493T>C (p.Ser165Pro) c.672T>C c.603T>C c.165T>C c.541T>C (p.Ser181Pro) n.978T>C n.644T>C c.712T>C (p.Ser238Pro) n.670T>C c.736T>C (p.Ser246Pro) n.760T>C n.625T>C | |
| 1 | g.230995924T>G | CA345219926 | ARV1 | c.613T>G (p.Ser205Ala) c.493T>G (p.Ser165Ala) c.672T>G c.603T>G c.165T>G c.541T>G (p.Ser181Ala) n.978T>G n.644T>G c.712T>G (p.Ser238Ala) n.670T>G c.736T>G (p.Ser246Ala) n.760T>G n.625T>G | |
| 1 | g.230995925C>A | CA345219927 | ARV1 | c.614C>A (p.Ser205Tyr) c.494C>A (p.Ser165Tyr) c.673C>A c.604C>A c.166C>A c.542C>A (p.Ser181Tyr) n.979C>A n.645C>A c.713C>A (p.Ser238Tyr) n.671C>A c.737C>A (p.Ser246Tyr) n.761C>A n.626C>A | |
| 1 | g.230995925C>G | CA345219928 | ARV1 | c.614C>G (p.Ser205Cys) c.494C>G (p.Ser165Cys) c.673C>G c.604C>G c.166C>G c.542C>G (p.Ser181Cys) n.979C>G n.645C>G c.713C>G (p.Ser238Cys) n.671C>G c.737C>G (p.Ser246Cys) n.761C>G n.626C>G | |
| 1 | g.230995925C>T | CA345219929 | ARV1 | c.614C>T (p.Ser205Phe) c.494C>T (p.Ser165Phe) c.673C>T c.604C>T c.166C>T c.542C>T (p.Ser181Phe) n.979C>T n.645C>T c.713C>T (p.Ser238Phe) n.671C>T c.737C>T (p.Ser246Phe) n.761C>T n.626C>T | |
| 1 | g.230995926T>A | CA423890496 | ARV1 | c.615T>A (p.Ser205=) c.495T>A (p.Ser165=) c.674T>A c.605T>A c.167T>A c.543T>A (p.Ser181=) n.980T>A n.646T>A c.714T>A (p.Ser238=) n.672T>A c.738T>A (p.Ser246=) n.762T>A n.627T>A | |
| 1 | g.230995926T>C | CA423890497 | ARV1 | c.615T>C (p.Ser205=) c.495T>C (p.Ser165=) c.674T>C c.605T>C c.167T>C c.543T>C (p.Ser181=) n.980T>C n.646T>C c.714T>C (p.Ser238=) n.672T>C c.738T>C (p.Ser246=) n.762T>C n.627T>C | dbSNP |
| 1 | g.230995926T>G | CA1450521 | ARV1 | c.615T>G (p.Ser205=) c.495T>G (p.Ser165=) c.674T>G c.605T>G c.167T>G c.543T>G (p.Ser181=) n.980T>G n.646T>G c.714T>G (p.Ser238=) n.672T>G c.738T>G (p.Ser246=) n.762T>G n.627T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230995926T= | CA1226782642 | ARV1 | c.615T= (p.Ser205=) c.495T= (p.Ser165=) c.674T= c.605T= c.167T= c.543T= (p.Ser181=) n.980T= n.646T= c.714T= (p.Ser238=) n.672T= c.738T= (p.Ser246=) n.762T= n.627T= | |
| 1 | g.230995927G>A | CA345219930 | ARV1 | c.616G>A (p.Val206Met) c.496G>A (p.Val166Met) c.675G>A c.606G>A c.168G>A c.544G>A (p.Val182Met) n.981G>A n.647G>A c.715G>A (p.Val239Met) n.673G>A c.739G>A (p.Val247Met) n.763G>A n.628G>A | |
| 1 | g.230995927G>C | CA345219931 | ARV1 | c.616G>C (p.Val206Leu) c.496G>C (p.Val166Leu) c.675G>C c.606G>C c.168G>C c.544G>C (p.Val182Leu) n.981G>C n.647G>C c.715G>C (p.Val239Leu) n.673G>C c.739G>C (p.Val247Leu) n.763G>C n.628G>C | |
| 1 | g.230995927G>T | CA345219932 | ARV1 | c.616G>T (p.Val206Leu) c.496G>T (p.Val166Leu) c.675G>T c.606G>T c.168G>T c.544G>T (p.Val182Leu) n.981G>T n.647G>T c.715G>T (p.Val239Leu) n.673G>T c.739G>T (p.Val247Leu) n.763G>T n.628G>T | |
| 1 | g.230995928T>A | CA345219933 | ARV1 | c.617T>A (p.Val206Glu) c.497T>A (p.Val166Glu) c.676T>A c.607T>A c.169T>A c.545T>A (p.Val182Glu) n.982T>A n.648T>A c.716T>A (p.Val239Glu) n.674T>A c.740T>A (p.Val247Glu) n.764T>A n.629T>A | |
| 1 | g.230995928T>C | CA345219934 | ARV1 | c.617T>C (p.Val206Ala) c.497T>C (p.Val166Ala) c.676T>C c.607T>C c.169T>C c.545T>C (p.Val182Ala) n.982T>C n.648T>C c.716T>C (p.Val239Ala) n.674T>C c.740T>C (p.Val247Ala) n.764T>C n.629T>C | |
| 1 | g.230995928T>G | CA345219935 | ARV1 | c.617T>G (p.Val206Gly) c.497T>G (p.Val166Gly) c.676T>G c.607T>G c.169T>G c.545T>G (p.Val182Gly) n.982T>G n.648T>G c.716T>G (p.Val239Gly) n.674T>G c.740T>G (p.Val247Gly) n.764T>G n.629T>G | |
| 1 | g.230995929G>A | CA423890498 | ARV1 | c.618G>A (p.Val206=) c.498G>A (p.Val166=) c.677G>A c.608G>A c.170G>A c.546G>A (p.Val182=) n.983G>A n.649G>A c.717G>A (p.Val239=) n.675G>A c.741G>A (p.Val247=) n.765G>A n.630G>A | dbSNP |
| 1 | g.230995929G>C | CA423890500 | ARV1 | c.618G>C (p.Val206=) c.498G>C (p.Val166=) c.677G>C c.608G>C c.170G>C c.546G>C (p.Val182=) n.983G>C n.649G>C c.717G>C (p.Val239=) n.675G>C c.741G>C (p.Val247=) n.765G>C n.630G>C | dbSNP gnomAD v4 |
| 1 | g.230995929G>T | CA423890499 | ARV1 | c.618G>T (p.Val206=) c.498G>T (p.Val166=) c.677G>T c.608G>T c.170G>T c.546G>T (p.Val182=) n.983G>T n.649G>T c.717G>T (p.Val239=) n.675G>T c.741G>T (p.Val247=) n.765G>T n.630G>T | |
| 1 | g.230995930T>A | CA345219937 | ARV1 | c.619T>A (p.Cys207Ser) c.499T>A (p.Cys167Ser) c.678T>A c.609T>A c.171T>A c.547T>A (p.Cys183Ser) n.984T>A n.650T>A c.718T>A (p.Cys240Ser) n.676T>A c.742T>A (p.Cys248Ser) n.766T>A n.631T>A | gnomAD v4 |
| 1 | g.230995930T>C | CA345219938 | ARV1 | c.619T>C (p.Cys207Arg) c.499T>C (p.Cys167Arg) c.678T>C c.609T>C c.171T>C c.547T>C (p.Cys183Arg) n.984T>C n.650T>C c.718T>C (p.Cys240Arg) n.676T>C c.742T>C (p.Cys248Arg) n.766T>C n.631T>C | |
| 1 | g.230995930T>G | CA345219936 | ARV1 | c.619T>G (p.Cys207Gly) c.499T>G (p.Cys167Gly) c.678T>G c.609T>G c.171T>G c.547T>G (p.Cys183Gly) n.984T>G n.650T>G c.718T>G (p.Cys240Gly) n.676T>G c.742T>G (p.Cys248Gly) n.766T>G n.631T>G | |
| 1 | g.230995931G>A | CA345219940 | ARV1 | c.620G>A (p.Cys207Tyr) c.500G>A (p.Cys167Tyr) c.679G>A c.610G>A c.172G>A c.548G>A (p.Cys183Tyr) n.985G>A n.651G>A c.719G>A (p.Cys240Tyr) n.677G>A c.743G>A (p.Cys248Tyr) n.767G>A n.632G>A | |
| 1 | g.230995931G>C | CA345219939 | ARV1 | c.620G>C (p.Cys207Ser) c.500G>C (p.Cys167Ser) c.679G>C c.610G>C c.172G>C c.548G>C (p.Cys183Ser) n.985G>C n.651G>C c.719G>C (p.Cys240Ser) n.677G>C c.743G>C (p.Cys248Ser) n.767G>C n.632G>C | |
| 1 | g.230995931G>T | CA345219941 | ARV1 | c.620G>T (p.Cys207Phe) c.500G>T (p.Cys167Phe) c.679G>T c.610G>T c.172G>T c.548G>T (p.Cys183Phe) n.985G>T n.651G>T c.719G>T (p.Cys240Phe) n.677G>T c.743G>T (p.Cys248Phe) n.767G>T n.632G>T | |
| 1 | g.230995932C>A | CA345219942 | ARV1 | c.621C>A (p.Cys207Ter) c.501C>A (p.Cys167Ter) c.680C>A c.611C>A c.173C>A c.549C>A (p.Cys183Ter) n.986C>A n.652C>A c.720C>A (p.Cys240Ter) n.678C>A c.744C>A (p.Cys248Ter) n.768C>A n.633C>A | |
| 1 | g.230995932C>G | CA345219943 | ARV1 | c.621C>G (p.Cys207Trp) c.501C>G (p.Cys167Trp) c.680C>G c.611C>G c.173C>G c.549C>G (p.Cys183Trp) n.986C>G n.652C>G c.720C>G (p.Cys240Trp) n.678C>G c.744C>G (p.Cys248Trp) n.768C>G n.633C>G | |
| 1 | g.230995932C>T | CA423890501 | ARV1 | c.621C>T (p.Cys207=) c.501C>T (p.Cys167=) c.680C>T c.611C>T c.173C>T c.549C>T (p.Cys183=) n.986C>T n.652C>T c.720C>T (p.Cys240=) n.678C>T c.744C>T (p.Cys248=) n.768C>T n.633C>T | |
| 1 | g.230995933C>A | CA345219944 | ARV1 | c.622C>A (p.Leu208Ile) c.502C>A (p.Leu168Ile) c.681C>A c.612C>A c.174C>A c.550C>A (p.Leu184Ile) n.987C>A n.653C>A c.721C>A (p.Leu241Ile) n.679C>A c.745C>A (p.Leu249Ile) n.769C>A n.634C>A | |
| 1 | g.230995933C>G | CA345219945 | ARV1 | c.622C>G (p.Leu208Val) c.502C>G (p.Leu168Val) c.681C>G c.612C>G c.174C>G c.550C>G (p.Leu184Val) n.987C>G n.653C>G c.721C>G (p.Leu241Val) n.679C>G c.745C>G (p.Leu249Val) n.769C>G n.634C>G | |
| 1 | g.230995933C>T | CA345219946 | ARV1 | c.622C>T (p.Leu208Phe) c.502C>T (p.Leu168Phe) c.681C>T c.612C>T c.174C>T c.550C>T (p.Leu184Phe) n.987C>T n.653C>T c.721C>T (p.Leu241Phe) n.679C>T c.745C>T (p.Leu249Phe) n.769C>T n.634C>T | |
| 1 | g.230995934T>A | CA1450522 | ARV1 | c.623T>A (p.Leu208His) c.503T>A (p.Leu168His) c.682T>A c.613T>A c.175T>A c.551T>A (p.Leu184His) n.988T>A n.654T>A c.722T>A (p.Leu241His) n.680T>A c.746T>A (p.Leu249His) n.770T>A n.635T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230995934T>C | CA345219947 | ARV1 | c.623T>C (p.Leu208Pro) c.503T>C (p.Leu168Pro) c.682T>C c.613T>C c.175T>C c.551T>C (p.Leu184Pro) n.988T>C n.654T>C c.722T>C (p.Leu241Pro) n.680T>C c.746T>C (p.Leu249Pro) n.770T>C n.635T>C | |
| 1 | g.230995934T>G | CA345219948 | ARV1 | c.623T>G (p.Leu208Arg) c.503T>G (p.Leu168Arg) c.682T>G c.613T>G c.175T>G c.551T>G (p.Leu184Arg) n.988T>G n.654T>G c.722T>G (p.Leu241Arg) n.680T>G c.746T>G (p.Leu249Arg) n.770T>G n.635T>G | dbSNP |
| 1 | g.230995934T= | CA1226782648 | ARV1 | c.623T= (p.Leu208=) c.503T= (p.Leu168=) c.682T= c.613T= c.175T= c.551T= (p.Leu184=) n.988T= n.654T= c.722T= (p.Leu241=) n.680T= c.746T= (p.Leu249=) n.770T= n.635T= | |
| 1 | g.230995935C>A | CA423890502 | ARV1 | c.624C>A (p.Leu208=) c.504C>A (p.Leu168=) c.683C>A c.614C>A c.176C>A c.552C>A (p.Leu184=) n.989C>A n.655C>A c.723C>A (p.Leu241=) n.681C>A c.747C>A (p.Leu249=) n.771C>A n.636C>A | |
| 1 | g.230995935C>G | CA423890503 | ARV1 | c.624C>G (p.Leu208=) c.504C>G (p.Leu168=) c.683C>G c.614C>G c.176C>G c.552C>G (p.Leu184=) n.989C>G n.655C>G c.723C>G (p.Leu241=) n.681C>G c.747C>G (p.Leu249=) n.771C>G n.636C>G | |
| 1 | g.230995935C>T | CA423890504 | ARV1 | c.624C>T (p.Leu208=) c.504C>T (p.Leu168=) c.683C>T c.614C>T c.176C>T c.552C>T (p.Leu184=) n.989C>T n.655C>T c.723C>T (p.Leu241=) n.681C>T c.747C>T (p.Leu249=) n.771C>T n.636C>T | |
| 1 | g.230995936A>C | CA345219949 | ARV1 | c.625A>C (p.Lys209Gln) c.505A>C (p.Lys169Gln) c.684A>C c.615A>C c.177A>C c.553A>C (p.Lys185Gln) n.990A>C n.656A>C c.724A>C (p.Lys242Gln) n.682A>C c.748A>C (p.Lys250Gln) n.772A>C n.637A>C | |
| 1 | g.230995936A>G | CA345219950 | ARV1 | c.625A>G (p.Lys209Glu) c.505A>G (p.Lys169Glu) c.684A>G c.615A>G c.177A>G c.553A>G (p.Lys185Glu) n.990A>G n.656A>G c.724A>G (p.Lys242Glu) n.682A>G c.748A>G (p.Lys250Glu) n.772A>G n.637A>G | |
| 1 | g.230995936A>T | CA345219951 | ARV1 | c.625A>T (p.Lys209Ter) c.505A>T (p.Lys169Ter) c.684A>T c.615A>T c.177A>T c.553A>T (p.Lys185Ter) n.990A>T n.656A>T c.724A>T (p.Lys242Ter) n.682A>T c.748A>T (p.Lys250Ter) n.772A>T n.637A>T | |
| 1 | g.230995937A>C | CA345219954 | ARV1 | c.626A>C (p.Lys209Thr) c.506A>C (p.Lys169Thr) c.685A>C c.616A>C c.178A>C c.554A>C (p.Lys185Thr) n.991A>C n.657A>C c.725A>C (p.Lys242Thr) n.683A>C c.749A>C (p.Lys250Thr) n.773A>C n.638A>C | |
| 1 | g.230995937A>G | CA345219952 | ARV1 | c.626A>G (p.Lys209Arg) c.506A>G (p.Lys169Arg) c.685A>G c.616A>G c.178A>G c.554A>G (p.Lys185Arg) n.991A>G n.657A>G c.725A>G (p.Lys242Arg) n.683A>G c.749A>G (p.Lys250Arg) n.773A>G n.638A>G | COSMIC |
| 1 | g.230995937A>T | CA345219953 | ARV1 | c.626A>T (p.Lys209Ile) c.506A>T (p.Lys169Ile) c.685A>T c.616A>T c.178A>T c.554A>T (p.Lys185Ile) n.991A>T n.657A>T c.725A>T (p.Lys242Ile) n.683A>T c.749A>T (p.Lys250Ile) n.773A>T n.638A>T | |
| 1 | g.230995938A>C | CA345219955 | ARV1 | c.627A>C (p.Lys209Asn) c.507A>C (p.Lys169Asn) c.686A>C c.617A>C c.179A>C c.555A>C (p.Lys185Asn) n.992A>C n.658A>C c.726A>C (p.Lys242Asn) n.684A>C c.750A>C (p.Lys250Asn) n.774A>C n.639A>C | |
| 1 | g.230995938A>G | CA423890505 | ARV1 | c.627A>G (p.Lys209=) c.507A>G (p.Lys169=) c.686A>G c.617A>G c.179A>G c.555A>G (p.Lys185=) n.992A>G n.658A>G c.726A>G (p.Lys242=) n.684A>G c.750A>G (p.Lys250=) n.774A>G n.639A>G | |
| 1 | g.230995938A>T | CA345219956 | ARV1 | c.627A>T (p.Lys209Asn) c.507A>T (p.Lys169Asn) c.686A>T c.617A>T c.179A>T c.555A>T (p.Lys185Asn) n.992A>T n.658A>T c.726A>T (p.Lys242Asn) n.684A>T c.750A>T (p.Lys250Asn) n.774A>T n.639A>T | |
| 1 | g.230995939C>A | CA345219957 | ARV1 | c.628C>A (p.Leu210Ile) c.508C>A (p.Leu170Ile) c.687C>A c.618C>A c.180C>A c.556C>A (p.Leu186Ile) n.993C>A n.659C>A c.727C>A (p.Leu243Ile) n.685C>A c.751C>A (p.Leu251Ile) n.775C>A n.640C>A | |
| 1 | g.230995939C= | CA1226782650 | ARV1 | c.628C= (p.Leu210=) c.508C= (p.Leu170=) c.687C= c.618C= c.180C= c.556C= (p.Leu186=) n.993C= n.659C= c.727C= (p.Leu243=) n.685C= c.751C= (p.Leu251=) n.775C= n.640C= | |
| 1 | g.230995939C>G | CA345219958 | ARV1 | c.628C>G (p.Leu210Val) c.508C>G (p.Leu170Val) c.687C>G c.618C>G c.180C>G c.556C>G (p.Leu186Val) n.993C>G n.659C>G c.727C>G (p.Leu243Val) n.685C>G c.751C>G (p.Leu251Val) n.775C>G n.640C>G | |
| 1 | g.230995939C>T | CA345219959 | ARV1 | c.628C>T (p.Leu210Phe) c.508C>T (p.Leu170Phe) c.687C>T c.618C>T c.180C>T c.556C>T (p.Leu186Phe) n.993C>T n.659C>T c.727C>T (p.Leu243Phe) n.685C>T c.751C>T (p.Leu251Phe) n.775C>T n.640C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230995940T>A | CA345219960 | ARV1 | c.629T>A (p.Leu210His) c.509T>A (p.Leu170His) c.688T>A c.619T>A c.181T>A c.557T>A (p.Leu186His) n.994T>A n.660T>A c.728T>A (p.Leu243His) n.686T>A c.752T>A (p.Leu251His) n.776T>A n.641T>A | |
| 1 | g.230995940T>C | CA345219961 | ARV1 | c.629T>C (p.Leu210Pro) c.509T>C (p.Leu170Pro) c.688T>C c.619T>C c.181T>C c.557T>C (p.Leu186Pro) n.994T>C n.660T>C c.728T>C (p.Leu243Pro) n.686T>C c.752T>C (p.Leu251Pro) n.776T>C n.641T>C | |
| 1 | g.230995940T>G | CA345219962 | ARV1 | c.629T>G (p.Leu210Arg) c.509T>G (p.Leu170Arg) c.688T>G c.619T>G c.181T>G c.557T>G (p.Leu186Arg) n.994T>G n.660T>G c.728T>G (p.Leu243Arg) n.686T>G c.752T>G (p.Leu251Arg) n.776T>G n.641T>G | |
| 1 | g.230995941_230995953dup | CA2650987459 | ARV1 | c.630_642dup (p.Val215HisfsTer2) c.510_522dup (p.Val175HisfsTer2) c.689_701dup c.620_632dup c.182_194dup c.558_570dup (p.Val191HisfsTer2) n.995_1007dup n.661_673dup c.729_741dup (p.Val248HisfsTer2) n.687_699dup c.753_765dup (p.Val256HisfsTer2) n.777_789dup n.642_654dup | gnomAD v4 |
| 1 | g.230995941C>A | CA423890506 | ARV1 | c.630C>A (p.Leu210=) c.510C>A (p.Leu170=) c.689C>A c.620C>A c.182C>A c.558C>A (p.Leu186=) n.995C>A n.661C>A c.729C>A (p.Leu243=) n.687C>A c.753C>A (p.Leu251=) n.777C>A n.642C>A | |
| 1 | g.230995941C>G | CA423890507 | ARV1 | c.630C>G (p.Leu210=) c.510C>G (p.Leu170=) c.689C>G c.620C>G c.182C>G c.558C>G (p.Leu186=) n.995C>G n.661C>G c.729C>G (p.Leu243=) n.687C>G c.753C>G (p.Leu251=) n.777C>G n.642C>G | |
| 1 | g.230995941C>T | CA423890508 | ARV1 | c.630C>T (p.Leu210=) c.510C>T (p.Leu170=) c.689C>T c.620C>T c.182C>T c.558C>T (p.Leu186=) n.995C>T n.661C>T c.729C>T (p.Leu243=) n.687C>T c.753C>T (p.Leu251=) n.777C>T n.642C>T | |
| 1 | g.230995941_230995942insTA | CA2586968428 | ARV1 | c.630_631insTA (p.Ile211Ter) c.510_511insTA (p.Ile171Ter) c.689_690insTA c.620_621insTA c.182_183insTA c.558_559insTA (p.Ile187Ter) n.995_996insTA n.661_662insTA c.729_730insTA (p.Ile244Ter) n.687_688insTA c.753_754insTA (p.Ile252Ter) n.777_778insTA n.642_643insTA | |
| 1 | g.230995942A= | CA1226782652 | ARV1 | c.631A= (p.Ile211=) c.511A= (p.Ile171=) c.690A= c.621A= c.183A= c.559A= (p.Ile187=) n.996A= n.662A= c.730A= (p.Ile244=) n.688A= c.754A= (p.Ile252=) n.778A= n.643A= | |
| 1 | g.230995942A>C | CA345219963 | ARV1 | c.631A>C (p.Ile211Leu) c.511A>C (p.Ile171Leu) c.690A>C c.621A>C c.183A>C c.559A>C (p.Ile187Leu) n.996A>C n.662A>C c.730A>C (p.Ile244Leu) n.688A>C c.754A>C (p.Ile252Leu) n.778A>C n.643A>C | |
| 1 | g.230995942A>G | CA345219964 | ARV1 | c.631A>G (p.Ile211Val) c.511A>G (p.Ile171Val) c.690A>G c.621A>G c.183A>G c.559A>G (p.Ile187Val) n.996A>G n.662A>G c.730A>G (p.Ile244Val) n.688A>G c.754A>G (p.Ile252Val) n.778A>G n.643A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230995942A>T | CA345219965 | ARV1 | c.631A>T (p.Ile211Phe) c.511A>T (p.Ile171Phe) c.690A>T c.621A>T c.183A>T c.559A>T (p.Ile187Phe) n.996A>T n.662A>T c.730A>T (p.Ile244Phe) n.688A>T c.754A>T (p.Ile252Phe) n.778A>T n.643A>T | dbSNP gnomAD v4 |
| 1 | g.230995943T>A | CA345219967 | ARV1 | c.632T>A (p.Ile211Asn) c.512T>A (p.Ile171Asn) c.691T>A c.622T>A c.184T>A c.560T>A (p.Ile187Asn) n.997T>A n.663T>A c.731T>A (p.Ile244Asn) n.689T>A c.755T>A (p.Ile252Asn) n.779T>A n.644T>A | |
| 1 | g.230995943T>C | CA345219968 | ARV1 | c.632T>C (p.Ile211Thr) c.512T>C (p.Ile171Thr) c.691T>C c.622T>C c.184T>C c.560T>C (p.Ile187Thr) n.997T>C n.663T>C c.731T>C (p.Ile244Thr) n.689T>C c.755T>C (p.Ile252Thr) n.779T>C n.644T>C | |
| 1 | g.230995943T>G | CA345219966 | ARV1 | c.632T>G (p.Ile211Ser) c.512T>G (p.Ile171Ser) c.691T>G c.622T>G c.184T>G c.560T>G (p.Ile187Ser) n.997T>G n.663T>G c.731T>G (p.Ile244Ser) n.689T>G c.755T>G (p.Ile252Ser) n.779T>G n.644T>G | |
| 1 | g.230995944T>A | CA423890509 | ARV1 | c.633T>A (p.Ile211=) c.513T>A (p.Ile171=) c.692T>A c.623T>A c.185T>A c.561T>A (p.Ile187=) n.998T>A n.664T>A c.732T>A (p.Ile244=) n.690T>A c.756T>A (p.Ile252=) n.780T>A n.645T>A | |
| 1 | g.230995944T>C | CA423890510 | ARV1 | c.633T>C (p.Ile211=) c.513T>C (p.Ile171=) c.692T>C c.623T>C c.185T>C c.561T>C (p.Ile187=) n.998T>C n.664T>C c.732T>C (p.Ile244=) n.690T>C c.756T>C (p.Ile252=) n.780T>C n.645T>C | |
| 1 | g.230995944T>G | CA345219969 | ARV1 | c.633T>G (p.Ile211Met) c.513T>G (p.Ile171Met) c.692T>G c.623T>G c.185T>G c.561T>G (p.Ile187Met) n.998T>G n.664T>G c.732T>G (p.Ile244Met) n.690T>G c.756T>G (p.Ile252Met) n.780T>G n.645T>G | |
| 1 | g.230995946_230995950del | CA2650987460 | ARV1 | c.635_639del (p.Lys212IlefsTer11) c.515_519del (p.Lys172IlefsTer11) c.694_698del c.625_629del c.187_191del c.563_567del (p.Lys188IlefsTer11) n.1000_1004del n.666_670del c.734_738del (p.Lys245IlefsTer11) n.692_696del c.758_762del (p.Lys253IlefsTer11) n.782_786del n.647_651del | gnomAD v4 |
| 1 | g.230995945A= | CA1226782654 | ARV1 | c.634A= (p.Lys212=) c.514A= (p.Lys172=) c.693A= c.624A= c.186A= c.562A= (p.Lys188=) n.999A= n.665A= c.733A= (p.Lys245=) n.691A= c.757A= (p.Lys253=) n.781A= n.646A= | |
| 1 | g.230995945A>C | CA345219970 | ARV1 | c.634A>C (p.Lys212Gln) c.514A>C (p.Lys172Gln) c.693A>C c.624A>C c.186A>C c.562A>C (p.Lys188Gln) n.999A>C n.665A>C c.733A>C (p.Lys245Gln) n.691A>C c.757A>C (p.Lys253Gln) n.781A>C n.646A>C | |
| 1 | g.230995945A>G | CA345219971 | ARV1 | c.634A>G (p.Lys212Glu) c.514A>G (p.Lys172Glu) c.693A>G c.624A>G c.186A>G c.562A>G (p.Lys188Glu) n.999A>G n.665A>G c.733A>G (p.Lys245Glu) n.691A>G c.757A>G (p.Lys253Glu) n.781A>G n.646A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230995945A>T | CA345219972 | ARV1 | c.634A>T (p.Lys212Ter) c.514A>T (p.Lys172Ter) c.693A>T c.624A>T c.186A>T c.562A>T (p.Lys188Ter) n.999A>T n.665A>T c.733A>T (p.Lys245Ter) n.691A>T c.757A>T (p.Lys253Ter) n.781A>T n.646A>T | |
| 1 | g.230995946A>C | CA345219973 | ARV1 | c.635A>C (p.Lys212Thr) c.515A>C (p.Lys172Thr) c.694A>C c.625A>C c.187A>C c.563A>C (p.Lys188Thr) n.1000A>C n.666A>C c.734A>C (p.Lys245Thr) n.692A>C c.758A>C (p.Lys253Thr) n.782A>C n.647A>C | gnomAD v4 |
| 1 | g.230995946A>G | CA345219974 | ARV1 | c.635A>G (p.Lys212Arg) c.515A>G (p.Lys172Arg) c.694A>G c.625A>G c.187A>G c.563A>G (p.Lys188Arg) n.1000A>G n.666A>G c.734A>G (p.Lys245Arg) n.692A>G c.758A>G (p.Lys253Arg) n.782A>G n.647A>G | |
| 1 | g.230995946A>T | CA345219975 | ARV1 | c.635A>T (p.Lys212Ile) c.515A>T (p.Lys172Ile) c.694A>T c.625A>T c.187A>T c.563A>T (p.Lys188Ile) n.1000A>T n.666A>T c.734A>T (p.Lys245Ile) n.692A>T c.758A>T (p.Lys253Ile) n.782A>T n.647A>T | |
| 1 | g.230995947A>C | CA345219976 | ARV1 | c.636A>C (p.Lys212Asn) c.516A>C (p.Lys172Asn) c.695A>C c.626A>C c.188A>C c.564A>C (p.Lys188Asn) n.1001A>C n.667A>C c.735A>C (p.Lys245Asn) n.693A>C c.759A>C (p.Lys253Asn) n.783A>C n.648A>C | |
| 1 | g.230995947A>G | CA423890511 | ARV1 | c.636A>G (p.Lys212=) c.516A>G (p.Lys172=) c.695A>G c.626A>G c.188A>G c.564A>G (p.Lys188=) n.1001A>G n.667A>G c.735A>G (p.Lys245=) n.693A>G c.759A>G (p.Lys253=) n.783A>G n.648A>G | |
| 1 | g.230995947A>T | CA345219977 | ARV1 | c.636A>T (p.Lys212Asn) c.516A>T (p.Lys172Asn) c.695A>T c.626A>T c.188A>T c.564A>T (p.Lys188Asn) n.1001A>T n.667A>T c.735A>T (p.Lys245Asn) n.693A>T c.759A>T (p.Lys253Asn) n.783A>T n.648A>T | |
| 1 | g.230995948G>A | CA345219978 | ARV1 | c.637G>A (p.Val213Ile) c.517G>A (p.Val173Ile) c.696G>A c.627G>A c.189G>A c.565G>A (p.Val189Ile) n.1002G>A n.668G>A c.736G>A (p.Val246Ile) n.694G>A c.760G>A (p.Val254Ile) n.784G>A n.649G>A | gnomAD v4 |
| 1 | g.230995948G>C | CA38907286 | ARV1 | c.637G>C (p.Val213Leu) c.517G>C (p.Val173Leu) c.696G>C c.627G>C c.189G>C c.565G>C (p.Val189Leu) n.1002G>C n.668G>C c.736G>C (p.Val246Leu) n.694G>C c.760G>C (p.Val254Leu) n.784G>C n.649G>C | dbSNP gnomAD v4 |
| 1 | g.230995948G= | CA1226782656 | ARV1 | c.637G= (p.Val213=) c.517G= (p.Val173=) c.696G= c.627G= c.189G= c.565G= (p.Val189=) n.1002G= n.668G= c.736G= (p.Val246=) n.694G= c.760G= (p.Val254=) n.784G= n.649G= | |
| 1 | g.230995948G>T | CA345219979 | ARV1 | c.637G>T (p.Val213Leu) c.517G>T (p.Val173Leu) c.696G>T c.627G>T c.189G>T c.565G>T (p.Val189Leu) n.1002G>T n.668G>T c.736G>T (p.Val246Leu) n.694G>T c.760G>T (p.Val254Leu) n.784G>T n.649G>T | |
| 1 | g.230995949T>A | CA345219981 | ARV1 | c.638T>A (p.Val213Glu) c.518T>A (p.Val173Glu) c.697T>A c.628T>A c.190T>A c.566T>A (p.Val189Glu) n.1003T>A n.669T>A c.737T>A (p.Val246Glu) n.695T>A c.761T>A (p.Val254Glu) n.785T>A n.650T>A | |
| 1 | g.230995949T>C | CA345219982 | ARV1 | c.638T>C (p.Val213Ala) c.518T>C (p.Val173Ala) c.697T>C c.628T>C c.190T>C c.566T>C (p.Val189Ala) n.1003T>C n.669T>C c.737T>C (p.Val246Ala) n.695T>C c.761T>C (p.Val254Ala) n.785T>C n.650T>C | |
| 1 | g.230995949T>G | CA345219980 | ARV1 | c.638T>G (p.Val213Gly) c.518T>G (p.Val173Gly) c.697T>G c.628T>G c.190T>G c.566T>G (p.Val189Gly) n.1003T>G n.669T>G c.737T>G (p.Val246Gly) n.695T>G c.761T>G (p.Val254Gly) n.785T>G n.650T>G | |
| 1 | g.230995950A>C | CA423890514 | ARV1 | c.639A>C (p.Val213=) c.519A>C (p.Val173=) c.698A>C c.629A>C c.191A>C c.567A>C (p.Val189=) n.1004A>C n.670A>C c.738A>C (p.Val246=) n.696A>C c.762A>C (p.Val254=) n.786A>C n.651A>C | |
| 1 | g.230995950A>G | CA423890513 | ARV1 | c.639A>G (p.Val213=) c.519A>G (p.Val173=) c.698A>G c.629A>G c.191A>G c.567A>G (p.Val189=) n.1004A>G n.670A>G c.738A>G (p.Val246=) n.696A>G c.762A>G (p.Val254=) n.786A>G n.651A>G | COSMIC |
| 1 | g.230995950A>T | CA423890512 | ARV1 | c.639A>T (p.Val213=) c.519A>T (p.Val173=) c.698A>T c.629A>T c.191A>T c.567A>T (p.Val189=) n.1004A>T n.670A>T c.738A>T (p.Val246=) n.696A>T c.762A>T (p.Val254=) n.786A>T n.651A>T | |
| 1 | g.230995951T>A | CA345219983 | ARV1 | c.640T>A (p.Phe214Ile) c.520T>A (p.Phe174Ile) c.699T>A c.630T>A c.192T>A c.568T>A (p.Phe190Ile) n.1005T>A n.671T>A c.739T>A (p.Phe247Ile) n.697T>A c.763T>A (p.Phe255Ile) n.787T>A n.652T>A | |
| 1 | g.230995951T>C | CA345219984 | ARV1 | c.640T>C (p.Phe214Leu) c.520T>C (p.Phe174Leu) c.699T>C c.630T>C c.192T>C c.568T>C (p.Phe190Leu) n.1005T>C n.671T>C c.739T>C (p.Phe247Leu) n.697T>C c.763T>C (p.Phe255Leu) n.787T>C n.652T>C | |
| 1 | g.230995951T>G | CA345219985 | ARV1 | c.640T>G (p.Phe214Val) c.520T>G (p.Phe174Val) c.699T>G c.630T>G c.192T>G c.568T>G (p.Phe190Val) n.1005T>G n.671T>G c.739T>G (p.Phe247Val) n.697T>G c.763T>G (p.Phe255Val) n.787T>G n.652T>G | |
| 1 | g.230995952T>A | CA345219986 | ARV1 | c.641T>A (p.Phe214Tyr) c.521T>A (p.Phe174Tyr) c.700T>A c.631T>A c.193T>A c.569T>A (p.Phe190Tyr) n.1006T>A n.672T>A c.740T>A (p.Phe247Tyr) n.698T>A c.764T>A (p.Phe255Tyr) n.788T>A n.653T>A | |
| 1 | g.230995952T>C | CA345219987 | ARV1 | c.641T>C (p.Phe214Ser) c.521T>C (p.Phe174Ser) c.700T>C c.631T>C c.193T>C c.569T>C (p.Phe190Ser) n.1006T>C n.672T>C c.740T>C (p.Phe247Ser) n.698T>C c.764T>C (p.Phe255Ser) n.788T>C n.653T>C | |
| 1 | g.230995952T>G | CA345219988 | ARV1 | c.641T>G (p.Phe214Cys) c.521T>G (p.Phe174Cys) c.700T>G c.631T>G c.193T>G c.569T>G (p.Phe190Cys) n.1006T>G n.672T>G c.740T>G (p.Phe247Cys) n.698T>G c.764T>G (p.Phe255Cys) n.788T>G n.653T>G | gnomAD v4 |
| 1 | g.230995953T>A | CA345219989 | ARV1 | c.642T>A (p.Phe214Leu) c.522T>A (p.Phe174Leu) c.701T>A c.632T>A c.194T>A c.570T>A (p.Phe190Leu) n.1007T>A n.673T>A c.741T>A (p.Phe247Leu) n.699T>A c.765T>A (p.Phe255Leu) n.789T>A n.654T>A | |
| 1 | g.230995953T>C | CA423890515 | ARV1 | c.642T>C (p.Phe214=) c.522T>C (p.Phe174=) c.701T>C c.632T>C c.194T>C c.570T>C (p.Phe190=) n.1007T>C n.673T>C c.741T>C (p.Phe247=) n.699T>C c.765T>C (p.Phe255=) n.789T>C n.654T>C | |
| 1 | g.230995953T>G | CA345219990 | ARV1 | c.642T>G (p.Phe214Leu) c.522T>G (p.Phe174Leu) c.701T>G c.632T>G c.194T>G c.570T>G (p.Phe190Leu) n.1007T>G n.673T>G c.741T>G (p.Phe247Leu) n.699T>G c.765T>G (p.Phe255Leu) n.789T>G n.654T>G | |
| 1 | g.230995954G>A | CA345219991 | ARV1 | c.643G>A (p.Val215Ile) c.523G>A (p.Val175Ile) c.702G>A c.633G>A c.195G>A c.571G>A (p.Val191Ile) n.1008G>A n.674G>A c.742G>A (p.Val248Ile) n.700G>A c.766G>A (p.Val256Ile) n.790G>A n.655G>A | |
| 1 | g.230995954G>C | CA345219992 | ARV1 | c.643G>C (p.Val215Leu) c.523G>C (p.Val175Leu) c.702G>C c.633G>C c.195G>C c.571G>C (p.Val191Leu) n.1008G>C n.674G>C c.742G>C (p.Val248Leu) n.700G>C c.766G>C (p.Val256Leu) n.790G>C n.655G>C | |
| 1 | g.230995954G>T | CA345219993 | ARV1 | c.643G>T (p.Val215Phe) c.523G>T (p.Val175Phe) c.702G>T c.633G>T c.195G>T c.571G>T (p.Val191Phe) n.1008G>T n.674G>T c.742G>T (p.Val248Phe) n.700G>T c.766G>T (p.Val256Phe) n.790G>T n.655G>T | |
| 1 | g.230995955T>A | CA345219994 | ARV1 | c.644T>A (p.Val215Asp) c.524T>A (p.Val175Asp) c.703T>A c.634T>A c.196T>A c.572T>A (p.Val191Asp) n.1009T>A n.675T>A c.743T>A (p.Val248Asp) n.701T>A c.767T>A (p.Val256Asp) n.791T>A n.656T>A | |
| 1 | g.230995955T>C | CA345219995 | ARV1 | c.644T>C (p.Val215Ala) c.524T>C (p.Val175Ala) c.703T>C c.634T>C c.196T>C c.572T>C (p.Val191Ala) n.1009T>C n.675T>C c.743T>C (p.Val248Ala) n.701T>C c.767T>C (p.Val256Ala) n.791T>C n.656T>C | |
| 1 | g.230995955T>G | CA345219996 | ARV1 | c.644T>G (p.Val215Gly) c.524T>G (p.Val175Gly) c.703T>G c.634T>G c.196T>G c.572T>G (p.Val191Gly) n.1009T>G n.675T>G c.743T>G (p.Val248Gly) n.701T>G c.767T>G (p.Val256Gly) n.791T>G n.656T>G | |
| 1 | g.230995956T>A | CA423890516 | ARV1 | c.645T>A (p.Val215=) c.525T>A (p.Val175=) c.704T>A c.635T>A c.197T>A c.573T>A (p.Val191=) n.1010T>A n.676T>A c.744T>A (p.Val248=) n.702T>A c.768T>A (p.Val256=) n.792T>A n.657T>A | |
| 1 | g.230995956T>C | CA423890518 | ARV1 | c.645T>C (p.Val215=) c.525T>C (p.Val175=) c.704T>C c.635T>C c.197T>C c.573T>C (p.Val191=) n.1010T>C n.676T>C c.744T>C (p.Val248=) n.702T>C c.768T>C (p.Val256=) n.792T>C n.657T>C | |
| 1 | g.230995956T>G | CA423890517 | ARV1 | c.645T>G (p.Val215=) c.525T>G (p.Val175=) c.704T>G c.635T>G c.197T>G c.573T>G (p.Val191=) n.1010T>G n.676T>G c.744T>G (p.Val248=) n.702T>G c.768T>G (p.Val256=) n.792T>G n.657T>G | |
| 1 | g.230995957C>A | CA345219997 | ARV1 | c.646C>A (p.Leu216Ile) c.526C>A (p.Leu176Ile) c.705C>A c.636C>A c.198C>A c.574C>A (p.Leu192Ile) n.1011C>A n.677C>A c.745C>A (p.Leu249Ile) n.703C>A c.769C>A (p.Leu257Ile) n.793C>A n.658C>A | |
| 1 | g.230995957C= | CA1142318752 | ARV1 | c.646C= (p.Leu216=) c.526C= (p.Leu176=) c.705C= c.636C= c.198C= c.574C= (p.Leu192=) n.1011C= n.677C= c.745C= (p.Leu249=) n.703C= c.769C= (p.Leu257=) n.793C= n.658C= | |
| 1 | g.230995957C>G | CA345219998 | ARV1 | c.646C>G (p.Leu216Val) c.526C>G (p.Leu176Val) c.705C>G c.636C>G c.198C>G c.574C>G (p.Leu192Val) n.1011C>G n.677C>G c.745C>G (p.Leu249Val) n.703C>G c.769C>G (p.Leu257Val) n.793C>G n.658C>G | gnomAD v4 |
| 1 | g.230995957C>T | CA1450523 | ARV1 | c.646C>T (p.Leu216Phe) c.526C>T (p.Leu176Phe) c.705C>T c.636C>T c.198C>T c.574C>T (p.Leu192Phe) n.1011C>T n.677C>T c.745C>T (p.Leu249Phe) n.703C>T c.769C>T (p.Leu257Phe) n.793C>T n.658C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230995958T>A | CA345219999 | ARV1 | c.647T>A (p.Leu216His) c.527T>A (p.Leu176His) c.706T>A c.637T>A c.199T>A c.575T>A (p.Leu192His) n.1012T>A n.678T>A c.746T>A (p.Leu249His) n.704T>A c.770T>A (p.Leu257His) n.794T>A n.659T>A | |
| 1 | g.230995958T>C | CA345220000 | ARV1 | c.647T>C (p.Leu216Pro) c.527T>C (p.Leu176Pro) c.706T>C c.637T>C c.199T>C c.575T>C (p.Leu192Pro) n.1012T>C n.678T>C c.746T>C (p.Leu249Pro) n.704T>C c.770T>C (p.Leu257Pro) n.794T>C n.659T>C | |
| 1 | g.230995958T>G | CA345220001 | ARV1 | c.647T>G (p.Leu216Arg) c.527T>G (p.Leu176Arg) c.706T>G c.637T>G c.199T>G c.575T>G (p.Leu192Arg) n.1012T>G n.678T>G c.746T>G (p.Leu249Arg) n.704T>G c.770T>G (p.Leu257Arg) n.794T>G n.659T>G | COSMIC |
| 1 | g.230995959T>A | CA423890519 | ARV1 | c.648T>A (p.Leu216=) c.528T>A (p.Leu176=) c.707T>A c.638T>A c.200T>A c.576T>A (p.Leu192=) n.1013T>A n.679T>A c.747T>A (p.Leu249=) n.705T>A c.771T>A (p.Leu257=) n.795T>A n.660T>A | gnomAD v4 |
| 1 | g.230995959T>C | CA423890520 | ARV1 | c.648T>C (p.Leu216=) c.528T>C (p.Leu176=) c.707T>C c.638T>C c.200T>C c.576T>C (p.Leu192=) n.1013T>C n.679T>C c.747T>C (p.Leu249=) n.705T>C c.771T>C (p.Leu257=) n.795T>C n.660T>C | gnomAD v4 |
| 1 | g.230995959T>G | CA423890521 | ARV1 | c.648T>G (p.Leu216=) c.528T>G (p.Leu176=) c.707T>G c.638T>G c.200T>G c.576T>G (p.Leu192=) n.1013T>G n.679T>G c.747T>G (p.Leu249=) n.705T>G c.771T>G (p.Leu257=) n.795T>G n.660T>G | |
| 1 | g.230995960del | CA2740231501 | ARV1 | c.649del (p.Thr217HisfsTer9) c.529del (p.Thr177HisfsTer9) c.708del c.639del c.201del c.577del (p.Thr193HisfsTer9) n.1014del n.680del c.748del (p.Thr250HisfsTer9) n.706del c.772del (p.Thr258HisfsTer9) n.796del n.661del | |
| 1 | g.230995960A>C | CA345220002 | ARV1 | c.649A>C (p.Thr217Pro) c.529A>C (p.Thr177Pro) c.708A>C c.639A>C c.201A>C c.577A>C (p.Thr193Pro) n.1014A>C n.680A>C c.748A>C (p.Thr250Pro) n.706A>C c.772A>C (p.Thr258Pro) n.796A>C n.661A>C | |
| 1 | g.230995960A>G | CA345220003 | ARV1 | c.649A>G (p.Thr217Ala) c.529A>G (p.Thr177Ala) c.708A>G c.639A>G c.201A>G c.577A>G (p.Thr193Ala) n.1014A>G n.680A>G c.748A>G (p.Thr250Ala) n.706A>G c.772A>G (p.Thr258Ala) n.796A>G n.661A>G | |
| 1 | g.230995960A>T | CA345220004 | ARV1 | c.649A>T (p.Thr217Ser) c.529A>T (p.Thr177Ser) c.708A>T c.639A>T c.201A>T c.577A>T (p.Thr193Ser) n.1014A>T n.680A>T c.748A>T (p.Thr250Ser) n.706A>T c.772A>T (p.Thr258Ser) n.796A>T n.661A>T | |
| 1 | g.230995961C>A | CA345220007 | ARV1 | c.650C>A (p.Thr217Lys) c.530C>A (p.Thr177Lys) c.709C>A c.640C>A c.202C>A c.578C>A (p.Thr193Lys) n.1015C>A n.681C>A c.749C>A (p.Thr250Lys) n.707C>A c.773C>A (p.Thr258Lys) n.797C>A n.662C>A | |
| 1 | g.230995961C>G | CA345220005 | ARV1 | c.650C>G (p.Thr217Arg) c.530C>G (p.Thr177Arg) c.709C>G c.640C>G c.202C>G c.578C>G (p.Thr193Arg) n.1015C>G n.681C>G c.749C>G (p.Thr250Arg) n.707C>G c.773C>G (p.Thr258Arg) n.797C>G n.662C>G | |
| 1 | g.230995961C>T | CA345220006 | ARV1 | c.650C>T (p.Thr217Ile) c.530C>T (p.Thr177Ile) c.709C>T c.640C>T c.202C>T c.578C>T (p.Thr193Ile) n.1015C>T n.681C>T c.749C>T (p.Thr250Ile) n.707C>T c.773C>T (p.Thr258Ile) n.797C>T n.662C>T | |
| 1 | g.230995962A= | CA1226782772 | ARV1 | c.651A= (p.Thr217=) c.531A= (p.Thr177=) c.710A= c.641A= c.203A= c.579A= (p.Thr193=) n.1016A= n.682A= c.750A= (p.Thr250=) n.708A= c.774A= (p.Thr258=) n.798A= n.663A= | |
| 1 | g.230995962A>C | CA423890522 | ARV1 | c.651A>C (p.Thr217=) c.531A>C (p.Thr177=) c.710A>C c.641A>C c.203A>C c.579A>C (p.Thr193=) n.1016A>C n.682A>C c.750A>C (p.Thr250=) n.708A>C c.774A>C (p.Thr258=) n.798A>C n.663A>C | |
| 1 | g.230995962A>G | CA38907294 | ARV1 | c.651A>G (p.Thr217=) c.531A>G (p.Thr177=) c.710A>G c.641A>G c.203A>G c.579A>G (p.Thr193=) n.1016A>G n.682A>G c.750A>G (p.Thr250=) n.708A>G c.774A>G (p.Thr258=) n.798A>G n.663A>G | dbSNP |
| 1 | g.230995962A>T | CA423890523 | ARV1 | c.651A>T (p.Thr217=) c.531A>T (p.Thr177=) c.710A>T c.641A>T c.203A>T c.579A>T (p.Thr193=) n.1016A>T n.682A>T c.750A>T (p.Thr250=) n.708A>T c.774A>T (p.Thr258=) n.798A>T n.663A>T | |
| 1 | g.230995963T>A | CA345220008 | ARV1 | c.652T>A (p.Ser218Thr) c.532T>A (p.Ser178Thr) c.711T>A c.642T>A c.204T>A c.580T>A (p.Ser194Thr) n.1017T>A n.683T>A c.751T>A (p.Ser251Thr) n.709T>A c.775T>A (p.Ser259Thr) n.799T>A n.664T>A | |
| 1 | g.230995963T>C | CA345220009 | ARV1 | c.652T>C (p.Ser218Pro) c.532T>C (p.Ser178Pro) c.711T>C c.642T>C c.204T>C c.580T>C (p.Ser194Pro) n.1017T>C n.683T>C c.751T>C (p.Ser251Pro) n.709T>C c.775T>C (p.Ser259Pro) n.799T>C n.664T>C | |
| 1 | g.230995963T>G | CA345220010 | ARV1 | c.652T>G (p.Ser218Ala) c.532T>G (p.Ser178Ala) c.711T>G c.642T>G c.204T>G c.580T>G (p.Ser194Ala) n.1017T>G n.683T>G c.751T>G (p.Ser251Ala) n.709T>G c.775T>G (p.Ser259Ala) n.799T>G n.664T>G | |
| 1 | g.230995964C>A | CA345220011 | ARV1 | c.653C>A (p.Ser218Ter) c.533C>A (p.Ser178Ter) c.712C>A c.643C>A c.205C>A c.581C>A (p.Ser194Ter) n.1018C>A n.684C>A c.752C>A (p.Ser251Ter) n.710C>A c.776C>A (p.Ser259Ter) n.800C>A n.665C>A | |
| 1 | g.230995964C>G | CA345220012 | ARV1 | c.653C>G (p.Ser218Ter) c.533C>G (p.Ser178Ter) c.712C>G c.643C>G c.205C>G c.581C>G (p.Ser194Ter) n.1018C>G n.684C>G c.752C>G (p.Ser251Ter) n.710C>G c.776C>G (p.Ser259Ter) n.800C>G n.665C>G | |
| 1 | g.230995964C>T | CA345220013 | ARV1 | c.653C>T (p.Ser218Leu) c.533C>T (p.Ser178Leu) c.712C>T c.643C>T c.205C>T c.581C>T (p.Ser194Leu) n.1018C>T n.684C>T c.752C>T (p.Ser251Leu) n.710C>T c.776C>T (p.Ser259Leu) n.800C>T n.665C>T | |
| 1 | g.230995965A>C | CA423890524 | ARV1 | c.654A>C (p.Ser218=) c.534A>C (p.Ser178=) c.713A>C c.644A>C c.206A>C c.582A>C (p.Ser194=) n.1019A>C n.685A>C c.753A>C (p.Ser251=) n.711A>C c.777A>C (p.Ser259=) n.801A>C n.666A>C | |
| 1 | g.230995965A>G | CA423890525 | ARV1 | c.654A>G (p.Ser218=) c.534A>G (p.Ser178=) c.713A>G c.644A>G c.206A>G c.582A>G (p.Ser194=) n.1019A>G n.685A>G c.753A>G (p.Ser251=) n.711A>G c.777A>G (p.Ser259=) n.801A>G n.666A>G | |
| 1 | g.230995965A>T | CA423890526 | ARV1 | c.654A>T (p.Ser218=) c.534A>T (p.Ser178=) c.713A>T c.644A>T c.206A>T c.582A>T (p.Ser194=) n.1019A>T n.685A>T c.753A>T (p.Ser251=) n.711A>T c.777A>T (p.Ser259=) n.801A>T n.666A>T | |
| 1 | g.230995966A= | CA1226782774 | ARV1 | c.655A= (p.Asn219=) c.535A= (p.Asn179=) c.714A= c.645A= c.207A= c.583A= (p.Asn195=) n.1020A= n.686A= c.754A= (p.Asn252=) n.712A= c.778A= (p.Asn260=) n.802A= n.667A= | |
| 1 | g.230995966A>C | CA345220014 | ARV1 | c.655A>C (p.Asn219His) c.535A>C (p.Asn179His) c.714A>C c.645A>C c.207A>C c.583A>C (p.Asn195His) n.1020A>C n.686A>C c.754A>C (p.Asn252His) n.712A>C c.778A>C (p.Asn260His) n.802A>C n.667A>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.230995966A>G | CA1450524 | ARV1 | c.655A>G (p.Asn219Asp) c.535A>G (p.Asn179Asp) c.714A>G c.645A>G c.207A>G c.583A>G (p.Asn195Asp) n.1020A>G n.686A>G c.754A>G (p.Asn252Asp) n.712A>G c.778A>G (p.Asn260Asp) n.802A>G n.667A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230995966A>T | CA1450525 | ARV1 | c.655A>T (p.Asn219Tyr) c.535A>T (p.Asn179Tyr) c.714A>T c.645A>T c.207A>T c.583A>T (p.Asn195Tyr) n.1020A>T n.686A>T c.754A>T (p.Asn252Tyr) n.712A>T c.778A>T (p.Asn260Tyr) n.802A>T n.667A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230995967A= | CA1141826428 | ARV1 | c.656A= (p.Asn219=) c.536A= (p.Asn179=) c.715A= c.646A= c.208A= c.584A= (p.Asn195=) n.1021A= n.687A= c.755A= (p.Asn252=) n.713A= c.779A= (p.Asn260=) n.803A= n.668A= | |
| 1 | g.230995967A>C | CA1450526 | ARV1 | c.656A>C (p.Asn219Thr) c.536A>C (p.Asn179Thr) c.715A>C c.646A>C c.208A>C c.584A>C (p.Asn195Thr) n.1021A>C n.687A>C c.755A>C (p.Asn252Thr) n.713A>C c.779A>C (p.Asn260Thr) n.803A>C n.668A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230995967A>G | CA345220015 | ARV1 | c.656A>G (p.Asn219Ser) c.536A>G (p.Asn179Ser) c.715A>G c.646A>G c.208A>G c.584A>G (p.Asn195Ser) n.1021A>G n.687A>G c.755A>G (p.Asn252Ser) n.713A>G c.779A>G (p.Asn260Ser) n.803A>G n.668A>G | |
| 1 | g.230995967A>T | CA345220016 | ARV1 | c.656A>T (p.Asn219Ile) c.536A>T (p.Asn179Ile) c.715A>T c.646A>T c.208A>T c.584A>T (p.Asn195Ile) n.1021A>T n.687A>T c.755A>T (p.Asn252Ile) n.713A>T c.779A>T (p.Asn260Ile) n.803A>T n.668A>T |