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 |
|---|---|---|---|---|---|
| 15 | g.89206897_89214258del | CA645509196 | ClinVar | ||
| 15 | g.89211758C>A | CA393728994 | RLBP1 | c.669G>T (p.Met223Ile) c.86G>T c.*247G>T (n.*247G>T) c.594G>T (p.Met198Ile) c.696G>T (p.Met232Ile) | |
| 15 | g.89211758C>G | CA393728995 | RLBP1 | c.669G>C (p.Met223Ile) c.86G>C c.*247G>C (n.*247G>C) c.594G>C (p.Met198Ile) c.696G>C (p.Met232Ile) | |
| 15 | g.89211758C>T | CA393728996 | RLBP1 | c.669G>A (p.Met223Ile) c.86G>A c.*247G>A (n.*247G>A) c.594G>A (p.Met198Ile) c.696G>A (p.Met232Ile) | |
| 15 | g.89211759A>C | CA393728999 | RLBP1 | c.668T>G (p.Met223Arg) c.85T>G c.*246T>G (n.*246T>G) c.593T>G (p.Met198Arg) c.695T>G (p.Met232Arg) | |
| 15 | g.89211759A>G | CA393728997 | RLBP1 | c.668T>C (p.Met223Thr) c.85T>C c.*246T>C (n.*246T>C) c.593T>C (p.Met198Thr) c.695T>C (p.Met232Thr) | gnomAD v4 |
| 15 | g.89211759A>T | CA393728998 | RLBP1 | c.668T>A (p.Met223Lys) c.85T>A c.*246T>A (n.*246T>A) c.593T>A (p.Met198Lys) c.695T>A (p.Met232Lys) | |
| 15 | g.89211760T>A | CA393729000 | RLBP1 | c.667A>T (p.Met223Leu) c.84A>T c.*245A>T (n.*245A>T) c.592A>T (p.Met198Leu) c.694A>T (p.Met232Leu) | |
| 15 | g.89211760T>C | CA393729001 | RLBP1 | c.667A>G (p.Met223Val) c.84A>G c.*245A>G (n.*245A>G) c.592A>G (p.Met198Val) c.694A>G (p.Met232Val) | gnomAD v4 |
| 15 | g.89211760T>G | CA393729002 | RLBP1 | c.667A>C (p.Met223Leu) c.84A>C c.*245A>C (n.*245A>C) c.592A>C (p.Met198Leu) c.694A>C (p.Met232Leu) | |
| 15 | g.89211761C>A | CA393729003 | RLBP1 | c.666G>T (p.Lys222Asn) c.83G>T c.*244G>T (n.*244G>T) c.591G>T (p.Lys197Asn) c.693G>T (p.Lys231Asn) | |
| 15 | g.89211761C>G | CA393729004 | RLBP1 | c.666G>C (p.Lys222Asn) c.83G>C c.*244G>C (n.*244G>C) c.591G>C (p.Lys197Asn) c.693G>C (p.Lys231Asn) | |
| 15 | g.89211761C>T | CA492075895 | RLBP1 | c.666G>A (p.Lys222=) c.83G>A c.*244G>A (n.*244G>A) c.591G>A (p.Lys197=) c.693G>A (p.Lys231=) | |
| 15 | g.89211762T>A | CA393729005 | RLBP1 | c.665A>T (p.Lys222Met) c.82A>T c.*243A>T (n.*243A>T) c.590A>T (p.Lys197Met) c.692A>T (p.Lys231Met) | |
| 15 | g.89211762T>C | CA393729007 | RLBP1 | c.665A>G (p.Lys222Arg) c.82A>G c.*243A>G (n.*243A>G) c.590A>G (p.Lys197Arg) c.692A>G (p.Lys231Arg) | |
| 15 | g.89211762T>G | CA393729006 | RLBP1 | c.665A>C (p.Lys222Thr) c.82A>C c.*243A>C (n.*243A>C) c.590A>C (p.Lys197Thr) c.692A>C (p.Lys231Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211762T= | CA2194510192 | RLBP1 | c.665A= (p.Lys222=) c.82A= c.*243A= (n.*243A=) c.590A= (p.Lys197=) c.692A= (p.Lys231=) | |
| 15 | g.89211763T>A | CA393729008 | RLBP1 | c.664A>T (p.Lys222Ter) c.81A>T c.*242A>T (n.*242A>T) c.589A>T (p.Lys197Ter) c.691A>T (p.Lys231Ter) | |
| 15 | g.89211763T>C | CA393729009 | RLBP1 | c.664A>G (p.Lys222Glu) c.81A>G c.*242A>G (n.*242A>G) c.589A>G (p.Lys197Glu) c.691A>G (p.Lys231Glu) | |
| 15 | g.89211763T>G | CA393729010 | RLBP1 | c.664A>C (p.Lys222Gln) c.81A>C c.*242A>C (n.*242A>C) c.589A>C (p.Lys197Gln) c.691A>C (p.Lys231Gln) | |
| 15 | g.89211764C>A | CA393729011 | RLBP1 | c.663G>T (p.Arg221Ser) c.80G>T c.*241G>T (n.*241G>T) c.588G>T (p.Arg196Ser) c.690G>T (p.Arg230Ser) | |
| 15 | g.89211764C>G | CA393729012 | RLBP1 | c.663G>C (p.Arg221Ser) c.80G>C c.*241G>C (n.*241G>C) c.588G>C (p.Arg196Ser) c.690G>C (p.Arg230Ser) | |
| 15 | g.89211764C>T | CA492075904 | RLBP1 | c.663G>A (p.Arg221=) c.80G>A c.*241G>A (n.*241G>A) c.588G>A (p.Arg196=) c.690G>A (p.Arg230=) | |
| 15 | g.89211765C>A | CA393729013 | RLBP1 | c.662G>T (p.Arg221Met) c.79G>T c.*240G>T (n.*240G>T) c.587G>T (p.Arg196Met) c.689G>T (p.Arg230Met) | |
| 15 | g.89211765C= | CA2194510194 | RLBP1 | c.662G= (p.Arg221=) c.79G= c.*240G= (n.*240G=) c.587G= (p.Arg196=) c.689G= (p.Arg230=) | |
| 15 | g.89211765C>G | CA393729014 | RLBP1 | c.662G>C (p.Arg221Thr) c.79G>C c.*240G>C (n.*240G>C) c.587G>C (p.Arg196Thr) c.689G>C (p.Arg230Thr) | |
| 15 | g.89211765C>T | CA274532601 | RLBP1 | c.662G>A (p.Arg221Lys) c.79G>A c.*240G>A (n.*240G>A) c.587G>A (p.Arg196Lys) c.689G>A (p.Arg230Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211766T>A | CA393729015 | RLBP1 | c.661A>T (p.Arg221Trp) c.78A>T c.*239A>T (n.*239A>T) c.586A>T (p.Arg196Trp) c.688A>T (p.Arg230Trp) | |
| 15 | g.89211766T>C | CA393729016 | RLBP1 | c.661A>G (p.Arg221Gly) c.78A>G c.*239A>G (n.*239A>G) c.586A>G (p.Arg196Gly) c.688A>G (p.Arg230Gly) | |
| 15 | g.89211766T>G | CA492075914 | RLBP1 | c.661A>C (p.Arg221=) c.78A>C c.*239A>C (n.*239A>C) c.586A>C (p.Arg196=) c.688A>C (p.Arg230=) | |
| 15 | g.89211767G>A | CA492075917 | RLBP1 | c.660C>T (p.Leu220=) c.77C>T c.*238C>T (n.*238C>T) c.585C>T (p.Leu195=) c.687C>T (p.Leu229=) | |
| 15 | g.89211767G>C | CA492075919 | RLBP1 | c.660C>G (p.Leu220=) c.77C>G c.*238C>G (n.*238C>G) c.585C>G (p.Leu195=) c.687C>G (p.Leu229=) | |
| 15 | g.89211767G>T | CA492075922 | RLBP1 | c.660C>A (p.Leu220=) c.77C>A c.*238C>A (n.*238C>A) c.585C>A (p.Leu195=) c.687C>A (p.Leu229=) | |
| 15 | g.89211768A>C | CA393729019 | RLBP1 | c.659T>G (p.Leu220Arg) c.76T>G c.*237T>G (n.*237T>G) c.584T>G (p.Leu195Arg) c.686T>G (p.Leu229Arg) | |
| 15 | g.89211768A>G | CA393729018 | RLBP1 | c.659T>C (p.Leu220Pro) c.76T>C c.*237T>C (n.*237T>C) c.584T>C (p.Leu195Pro) c.686T>C (p.Leu229Pro) | |
| 15 | g.89211768A>T | CA393729017 | RLBP1 | c.659T>A (p.Leu220His) c.76T>A c.*237T>A (n.*237T>A) c.584T>A (p.Leu195His) c.686T>A (p.Leu229His) | |
| 15 | g.89211769G>A | CA393729020 | RLBP1 | c.658C>T (p.Leu220Phe) c.75C>T c.*236C>T (n.*236C>T) c.583C>T (p.Leu195Phe) c.685C>T (p.Leu229Phe) | |
| 15 | g.89211769G>C | CA393729021 | RLBP1 | c.658C>G (p.Leu220Val) c.75C>G c.*236C>G (n.*236C>G) c.583C>G (p.Leu195Val) c.685C>G (p.Leu229Val) | |
| 15 | g.89211769G>T | CA393729022 | RLBP1 | c.658C>A (p.Leu220Ile) c.75C>A c.*236C>A (n.*236C>A) c.583C>A (p.Leu195Ile) c.685C>A (p.Leu229Ile) | |
| 15 | g.89211770A>C | CA393729023 | RLBP1 | c.657T>G (p.Asp219Glu) c.74T>G c.*235T>G (n.*235T>G) c.582T>G (p.Asp194Glu) c.684T>G (p.Asp228Glu) | |
| 15 | g.89211770A>G | CA492075936 | RLBP1 | c.657T>C (p.Asp219=) c.74T>C c.*235T>C (n.*235T>C) c.582T>C (p.Asp194=) c.684T>C (p.Asp228=) | |
| 15 | g.89211770A>T | CA393729024 | RLBP1 | c.657T>A (p.Asp219Glu) c.74T>A c.*235T>A (n.*235T>A) c.582T>A (p.Asp194Glu) c.684T>A (p.Asp228Glu) | gnomAD v4 |
| 15 | g.89211771T>A | CA393729027 | RLBP1 | c.656A>T (p.Asp219Val) c.73A>T c.*234A>T (n.*234A>T) c.581A>T (p.Asp194Val) c.683A>T (p.Asp228Val) | |
| 15 | g.89211771T>C | CA393729026 | RLBP1 | c.656A>G (p.Asp219Gly) c.73A>G c.*234A>G (n.*234A>G) c.581A>G (p.Asp194Gly) c.683A>G (p.Asp228Gly) | gnomAD v4 |
| 15 | g.89211771T>G | CA393729025 | RLBP1 | c.656A>C (p.Asp219Ala) c.73A>C c.*234A>C (n.*234A>C) c.581A>C (p.Asp194Ala) c.683A>C (p.Asp228Ala) | |
| 15 | g.89211772C>A | CA393729028 | RLBP1 | c.655G>T (p.Asp219Tyr) c.72G>T c.*233G>T (n.*233G>T) c.580G>T (p.Asp194Tyr) c.682G>T (p.Asp228Tyr) | |
| 15 | g.89211772C= | CA2194510200 | RLBP1 | c.655G= (p.Asp219=) c.72G= c.*233G= (n.*233G=) c.580G= (p.Asp194=) c.682G= (p.Asp228=) | |
| 15 | g.89211772C>G | CA393729029 | RLBP1 | c.655G>C (p.Asp219His) c.72G>C c.*233G>C (n.*233G>C) c.580G>C (p.Asp194His) c.682G>C (p.Asp228His) | gnomAD v4 |
| 15 | g.89211772C>T | CA393729030 | RLBP1 | c.655G>A (p.Asp219Asn) c.72G>A c.*233G>A (n.*233G>A) c.580G>A (p.Asp194Asn) c.682G>A (p.Asp228Asn) | dbSNP |
| 15 | g.89211773T>A | CA492075961 | RLBP1 | c.654A>T (p.Ser218=) c.71A>T c.*232A>T (n.*232A>T) c.579A>T (p.Ser193=) c.681A>T (p.Ser227=) | |
| 15 | g.89211773T>C | CA492075958 | RLBP1 | c.654A>G (p.Ser218=) c.71A>G c.*232A>G (n.*232A>G) c.579A>G (p.Ser193=) c.681A>G (p.Ser227=) | |
| 15 | g.89211773T>G | CA492075955 | RLBP1 | c.654A>C (p.Ser218=) c.71A>C c.*232A>C (n.*232A>C) c.579A>C (p.Ser193=) c.681A>C (p.Ser227=) | |
| 15 | g.89211774G>A | CA393729031 | RLBP1 | c.653C>T (p.Ser218Leu) c.70C>T c.*231C>T (n.*231C>T) c.578C>T (p.Ser193Leu) c.680C>T (p.Ser227Leu) | |
| 15 | g.89211774G>C | CA393729032 | RLBP1 | c.653C>G (p.Ser218Ter) c.70C>G c.*231C>G (n.*231C>G) c.578C>G (p.Ser193Ter) c.680C>G (p.Ser227Ter) | |
| 15 | g.89211774G>T | CA393729033 | RLBP1 | c.653C>A (p.Ser218Ter) c.70C>A c.*231C>A (n.*231C>A) c.578C>A (p.Ser193Ter) c.680C>A (p.Ser227Ter) | |
| 15 | g.89211775A>C | CA393729034 | RLBP1 | c.652T>G (p.Ser218Ala) c.69T>G c.*230T>G (n.*230T>G) c.577T>G (p.Ser193Ala) c.679T>G (p.Ser227Ala) | |
| 15 | g.89211775A>G | CA393729036 | RLBP1 | c.652T>C (p.Ser218Pro) c.69T>C c.*230T>C (n.*230T>C) c.577T>C (p.Ser193Pro) c.679T>C (p.Ser227Pro) | |
| 15 | g.89211775A>T | CA393729035 | RLBP1 | c.652T>A (p.Ser218Thr) c.69T>A c.*230T>A (n.*230T>A) c.577T>A (p.Ser193Thr) c.679T>A (p.Ser227Thr) | |
| 15 | g.89211776A>C | CA492075974 | RLBP1 | c.651T>G (p.Thr217=) c.68T>G c.*229T>G (n.*229T>G) c.576T>G (p.Thr192=) c.678T>G (p.Thr226=) | |
| 15 | g.89211776A>G | CA492075979 | RLBP1 | c.651T>C (p.Thr217=) c.68T>C c.*229T>C (n.*229T>C) c.576T>C (p.Thr192=) c.678T>C (p.Thr226=) | gnomAD v4 |
| 15 | g.89211776A>T | CA492075976 | RLBP1 | c.651T>A (p.Thr217=) c.68T>A c.*229T>A (n.*229T>A) c.576T>A (p.Thr192=) c.678T>A (p.Thr226=) | gnomAD v4 |
| 15 | g.89211777G>A | CA393729037 | RLBP1 | c.650C>T (p.Thr217Ile) c.67C>T c.*228C>T (n.*228C>T) c.575C>T (p.Thr192Ile) c.677C>T (p.Thr226Ile) | |
| 15 | g.89211777G>C | CA393729038 | RLBP1 | c.650C>G (p.Thr217Ser) c.67C>G c.*228C>G (n.*228C>G) c.575C>G (p.Thr192Ser) c.677C>G (p.Thr226Ser) | |
| 15 | g.89211777G>T | CA393729039 | RLBP1 | c.650C>A (p.Thr217Asn) c.67C>A c.*228C>A (n.*228C>A) c.575C>A (p.Thr192Asn) c.677C>A (p.Thr226Asn) | |
| 15 | g.89211778T>A | CA393729040 | RLBP1 | c.649A>T (p.Thr217Ser) c.66A>T c.*227A>T (n.*227A>T) c.574A>T (p.Thr192Ser) c.676A>T (p.Thr226Ser) | |
| 15 | g.89211778T>C | CA393729041 | RLBP1 | c.649A>G (p.Thr217Ala) c.66A>G c.*227A>G (n.*227A>G) c.574A>G (p.Thr192Ala) c.676A>G (p.Thr226Ala) | |
| 15 | g.89211778T>G | CA393729042 | RLBP1 | c.649A>C (p.Thr217Pro) c.66A>C c.*227A>C (n.*227A>C) c.574A>C (p.Thr192Pro) c.676A>C (p.Thr226Pro) | |
| 15 | g.89211779C>A | CA492075991 | RLBP1 | c.648G>T (p.Arg216=) c.65G>T c.*226G>T (n.*226G>T) c.573G>T (p.Arg191=) c.675G>T (p.Arg225=) | |
| 15 | g.89211779C= | CA2194510203 | RLBP1 | c.648G= (p.Arg216=) c.65G= c.*226G= (n.*226G=) c.573G= (p.Arg191=) c.675G= (p.Arg225=) | |
| 15 | g.89211779C>G | CA492075993 | RLBP1 | c.648G>C (p.Arg216=) c.65G>C c.*226G>C (n.*226G>C) c.573G>C (p.Arg191=) c.675G>C (p.Arg225=) | |
| 15 | g.89211779C>T | CA492075995 | RLBP1 | c.648G>A (p.Arg216=) c.65G>A c.*226G>A (n.*226G>A) c.573G>A (p.Arg191=) c.675G>A (p.Arg225=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211780C>A | CA393729043 | RLBP1 | c.647G>T (p.Arg216Leu) c.64G>T c.*225G>T (n.*225G>T) c.572G>T (p.Arg191Leu) c.674G>T (p.Arg225Leu) | |
| 15 | g.89211780C= | CA2194510210 | RLBP1 | c.647G= (p.Arg216=) c.64G= c.*225G= (n.*225G=) c.572G= (p.Arg191=) c.674G= (p.Arg225=) | |
| 15 | g.89211780C>G | CA393729044 | RLBP1 | c.647G>C (p.Arg216Pro) c.64G>C c.*225G>C (n.*225G>C) c.572G>C (p.Arg191Pro) c.674G>C (p.Arg225Pro) | dbSNP gnomAD v4 |
| 15 | g.89211780C>T | CA7722230 | RLBP1 | c.647G>A (p.Arg216Gln) c.64G>A c.*225G>A (n.*225G>A) c.572G>A (p.Arg191Gln) c.674G>A (p.Arg225Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211781G>A | CA7722231 | RLBP1 | c.646C>T (p.Arg216Trp) c.63C>T c.*224C>T (n.*224C>T) c.571C>T (p.Arg191Trp) c.673C>T (p.Arg225Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.89211781G>C | CA393729045 | RLBP1 | c.646C>G (p.Arg216Gly) c.63C>G c.*224C>G (n.*224C>G) c.571C>G (p.Arg191Gly) c.673C>G (p.Arg225Gly) | |
| 15 | g.89211781G= | CA2194510214 | RLBP1 | c.646C= (p.Arg216=) c.63C= c.*224C= (n.*224C=) c.571C= (p.Arg191=) c.673C= (p.Arg225=) | |
| 15 | g.89211781G>T | CA492076004 | RLBP1 | c.646C>A (p.Arg216=) c.63C>A c.*224C>A (n.*224C>A) c.571C>A (p.Arg191=) c.673C>A (p.Arg225=) | |
| 15 | g.89211782G>A | CA492076008 | RLBP1 | c.645C>T (p.Leu215=) c.62C>T c.*223C>T (n.*223C>T) c.570C>T (p.Leu190=) c.672C>T (p.Leu224=) | dbSNP gnomAD v4 |
| 15 | g.89211782G>C | CA492076010 | RLBP1 | c.645C>G (p.Leu215=) c.62C>G c.*223C>G (n.*223C>G) c.570C>G (p.Leu190=) c.672C>G (p.Leu224=) | |
| 15 | g.89211782G= | CA2194510225 | RLBP1 | c.645C= (p.Leu215=) c.62C= c.*223C= (n.*223C=) c.570C= (p.Leu190=) c.672C= (p.Leu224=) | |
| 15 | g.89211782G>T | CA492076013 | RLBP1 | c.645C>A (p.Leu215=) c.62C>A c.*223C>A (n.*223C>A) c.570C>A (p.Leu190=) c.672C>A (p.Leu224=) | |
| 15 | g.89211783A>C | CA393729048 | RLBP1 | c.644T>G (p.Leu215Arg) c.61T>G c.*222T>G (n.*222T>G) c.569T>G (p.Leu190Arg) c.671T>G (p.Leu224Arg) | |
| 15 | g.89211783A>G | CA393729047 | RLBP1 | c.644T>C (p.Leu215Pro) c.61T>C c.*222T>C (n.*222T>C) c.569T>C (p.Leu190Pro) c.671T>C (p.Leu224Pro) | |
| 15 | g.89211783A>T | CA393729046 | RLBP1 | c.644T>A (p.Leu215His) c.61T>A c.*222T>A (n.*222T>A) c.569T>A (p.Leu190His) c.671T>A (p.Leu224His) | |
| 15 | g.89211784G>A | CA393729049 | RLBP1 | c.643C>T (p.Leu215Phe) c.60C>T c.*221C>T (n.*221C>T) c.568C>T (p.Leu190Phe) c.670C>T (p.Leu224Phe) | gnomAD v4 |
| 15 | g.89211784G>C | CA393729050 | RLBP1 | c.643C>G (p.Leu215Val) c.60C>G c.*221C>G (n.*221C>G) c.568C>G (p.Leu190Val) c.670C>G (p.Leu224Val) | |
| 15 | g.89211784G= | CA2194510229 | RLBP1 | c.643C= (p.Leu215=) c.60C= c.*221C= (n.*221C=) c.568C= (p.Leu190=) c.670C= (p.Leu224=) | |
| 15 | g.89211784G>T | CA274532624 | RLBP1 | c.643C>A (p.Leu215Ile) c.60C>A c.*221C>A (n.*221C>A) c.568C>A (p.Leu190Ile) c.670C>A (p.Leu224Ile) | dbSNP |
| 15 | g.89211785A>C | CA393729051 | RLBP1 | c.642T>G (p.Ser214Arg) c.59T>G c.*220T>G (n.*220T>G) c.567T>G (p.Ser189Arg) c.669T>G (p.Ser223Arg) | |
| 15 | g.89211785A>G | CA492076030 | RLBP1 | c.642T>C (p.Ser214=) c.59T>C c.*220T>C (n.*220T>C) c.567T>C (p.Ser189=) c.669T>C (p.Ser223=) | |
| 15 | g.89211785A>T | CA393729052 | RLBP1 | c.642T>A (p.Ser214Arg) c.59T>A c.*220T>A (n.*220T>A) c.567T>A (p.Ser189Arg) c.669T>A (p.Ser223Arg) | |
| 15 | g.89211786C>A | CA393729053 | RLBP1 | c.641G>T (p.Ser214Ile) c.58G>T c.*219G>T (n.*219G>T) c.566G>T (p.Ser189Ile) c.668G>T (p.Ser223Ile) | |
| 15 | g.89211786C>G | CA393729054 | RLBP1 | c.641G>C (p.Ser214Thr) c.58G>C c.*219G>C (n.*219G>C) c.566G>C (p.Ser189Thr) c.668G>C (p.Ser223Thr) | |
| 15 | g.89211786C>T | CA393729055 | RLBP1 | c.641G>A (p.Ser214Asn) c.58G>A c.*219G>A (n.*219G>A) c.566G>A (p.Ser189Asn) c.668G>A (p.Ser223Asn) | |
| 15 | g.89211787T>A | CA393729056 | RLBP1 | c.640A>T (p.Ser214Cys) c.57A>T c.*218A>T (n.*218A>T) c.565A>T (p.Ser189Cys) c.667A>T (p.Ser223Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211787T>C | CA393729057 | RLBP1 | c.640A>G (p.Ser214Gly) c.57A>G c.*218A>G (n.*218A>G) c.565A>G (p.Ser189Gly) c.667A>G (p.Ser223Gly) | |
| 15 | g.89211787T>G | CA393729058 | RLBP1 | c.640A>C (p.Ser214Arg) c.57A>C c.*218A>C (n.*218A>C) c.565A>C (p.Ser189Arg) c.667A>C (p.Ser223Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211787T= | CA2194510236 | RLBP1 | c.640A= (p.Ser214=) c.57A= c.*218A= (n.*218A=) c.565A= (p.Ser189=) c.667A= (p.Ser223=) | |
| 15 | g.89211787_89211788insTT | CA2630242577 | RLBP1 | c.640_641insAA (p.Ser214LysfsTer?) c.57_58insAA c.*218_*219insAA (n.*218_*219insAA) c.565_566insAA (p.Ser189LysfsTer?) c.667_668insAA (p.Ser223LysfsTer?) | gnomAD v4 |
| 15 | g.89211788A= | CA2194510240 | RLBP1 | c.639T= (p.Ala213=) c.56T= c.*217T= (n.*217T=) c.564T= (p.Ala188=) c.666T= (p.Ala222=) | |
| 15 | g.89211788A>C | CA492076042 | RLBP1 | c.639T>G (p.Ala213=) c.56T>G c.*217T>G (n.*217T>G) c.564T>G (p.Ala188=) c.666T>G (p.Ala222=) | |
| 15 | g.89211788A>G | CA274532634 | RLBP1 | c.639T>C (p.Ala213=) c.56T>C c.*217T>C (n.*217T>C) c.564T>C (p.Ala188=) c.666T>C (p.Ala222=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211788A>T | CA492076045 | RLBP1 | c.639T>A (p.Ala213=) c.56T>A c.*217T>A (n.*217T>A) c.564T>A (p.Ala188=) c.666T>A (p.Ala222=) | |
| 15 | g.89211788_89211796delinsAGCAGCCTG | CA2194510241 | RLBP1 | c.631_639delinsCAGGCTGCT (p.Gln211=) c.48_56delinsCAGGCTGCT c.*209_*217delinsCAGGCTGCT (n.*209_*217delinsCAGGCTGCT) c.556_564delinsCAGGCTGCT (p.Gln186=) c.658_666delinsCAGGCTGCT (p.Gln220=) | |
| 15 | g.89211789G>A | CA393729059 | RLBP1 | c.638C>T (p.Ala213Val) c.55C>T c.*216C>T (n.*216C>T) c.563C>T (p.Ala188Val) c.665C>T (p.Ala222Val) | gnomAD v4 |
| 15 | g.89211789G>C | CA7722232 | RLBP1 | c.638C>G (p.Ala213Gly) c.55C>G c.*216C>G (n.*216C>G) c.563C>G (p.Ala188Gly) c.665C>G (p.Ala222Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211789G= | CA2194510247 | RLBP1 | c.638C= (p.Ala213=) c.55C= c.*216C= (n.*216C=) c.563C= (p.Ala188=) c.665C= (p.Ala222=) | |
| 15 | g.89211789G>T | CA393729060 | RLBP1 | c.638C>A (p.Ala213Asp) c.55C>A c.*216C>A (n.*216C>A) c.563C>A (p.Ala188Asp) c.665C>A (p.Ala222Asp) | |
| 15 | g.89211789_89211792del | CA2630242578 | RLBP1 | c.635_638del (p.Ala212ValfsTer?) c.52_55del c.*213_*216del (n.*213_*216del) c.560_563del (p.Ala187ValfsTer?) c.662_665del (p.Ala221ValfsTer?) | gnomAD v4 |
| 15 | g.89211789_89211796del | CA716899296 | RLBP1 | c.631_638del (p.Gln211Ter) c.48_55del c.*209_*216del (n.*209_*216del) c.556_563del (p.Gln186Ter) c.658_665del (p.Gln220Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211790C>A | CA393729063 | RLBP1 | c.637G>T (p.Ala213Ser) c.54G>T c.*215G>T (n.*215G>T) c.562G>T (p.Ala188Ser) c.664G>T (p.Ala222Ser) | |
| 15 | g.89211790C>G | CA393729061 | RLBP1 | c.637G>C (p.Ala213Pro) c.54G>C c.*215G>C (n.*215G>C) c.562G>C (p.Ala188Pro) c.664G>C (p.Ala222Pro) | |
| 15 | g.89211790C>T | CA393729062 | RLBP1 | c.637G>A (p.Ala213Thr) c.54G>A c.*215G>A (n.*215G>A) c.562G>A (p.Ala188Thr) c.664G>A (p.Ala222Thr) | |
| 15 | g.89211791A>C | CA492076059 | RLBP1 | c.636T>G (p.Ala212=) c.53T>G c.*214T>G (n.*214T>G) c.561T>G (p.Ala187=) c.663T>G (p.Ala221=) | |
| 15 | g.89211791A>G | CA492076063 | RLBP1 | c.636T>C (p.Ala212=) c.53T>C c.*214T>C (n.*214T>C) c.561T>C (p.Ala187=) c.663T>C (p.Ala221=) | |
| 15 | g.89211791A>T | CA492076061 | RLBP1 | c.636T>A (p.Ala212=) c.53T>A c.*214T>A (n.*214T>A) c.561T>A (p.Ala187=) c.663T>A (p.Ala221=) | |
| 15 | g.89211792G>A | CA393729064 | RLBP1 | c.635C>T (p.Ala212Val) c.52C>T c.*213C>T (n.*213C>T) c.560C>T (p.Ala187Val) c.662C>T (p.Ala221Val) | COSMIC |
| 15 | g.89211792G>C | CA393729065 | RLBP1 | c.635C>G (p.Ala212Gly) c.52C>G c.*213C>G (n.*213C>G) c.560C>G (p.Ala187Gly) c.662C>G (p.Ala221Gly) | |
| 15 | g.89211792G>T | CA393729066 | RLBP1 | c.635C>A (p.Ala212Asp) c.52C>A c.*213C>A (n.*213C>A) c.560C>A (p.Ala187Asp) c.662C>A (p.Ala221Asp) | |
| 15 | g.89211793C>A | CA393729067 | RLBP1 | c.634G>T (p.Ala212Ser) c.51G>T c.*212G>T (n.*212G>T) c.559G>T (p.Ala187Ser) c.661G>T (p.Ala221Ser) | |
| 15 | g.89211793C= | CA2194510248 | RLBP1 | c.634G= (p.Ala212=) c.51G= c.*212G= (n.*212G=) c.559G= (p.Ala187=) c.661G= (p.Ala221=) | |
| 15 | g.89211793C>G | CA393729068 | RLBP1 | c.634G>C (p.Ala212Pro) c.51G>C c.*212G>C (n.*212G>C) c.559G>C (p.Ala187Pro) c.661G>C (p.Ala221Pro) | |
| 15 | g.89211793C>T | CA393729069 | RLBP1 | c.634G>A (p.Ala212Thr) c.51G>A c.*212G>A (n.*212G>A) c.559G>A (p.Ala187Thr) c.661G>A (p.Ala221Thr) | dbSNP gnomAD v4 |
| 15 | g.89211794C>A | CA393729070 | RLBP1 | c.633G>T (p.Gln211His) c.50G>T c.*211G>T (n.*211G>T) c.558G>T (p.Gln186His) c.660G>T (p.Gln220His) | |
| 15 | g.89211794C>G | CA393729071 | RLBP1 | c.633G>C (p.Gln211His) c.50G>C c.*211G>C (n.*211G>C) c.558G>C (p.Gln186His) c.660G>C (p.Gln220His) | |
| 15 | g.89211794C>T | CA492076077 | RLBP1 | c.633G>A (p.Gln211=) c.50G>A c.*211G>A (n.*211G>A) c.558G>A (p.Gln186=) c.660G>A (p.Gln220=) | |
| 15 | g.89211795T>A | CA393729072 | RLBP1 | c.632A>T (p.Gln211Leu) c.49A>T c.*210A>T (n.*210A>T) c.557A>T (p.Gln186Leu) c.659A>T (p.Gln220Leu) | |
| 15 | g.89211795T>C | CA393729073 | RLBP1 | c.632A>G (p.Gln211Arg) c.49A>G c.*210A>G (n.*210A>G) c.557A>G (p.Gln186Arg) c.659A>G (p.Gln220Arg) | |
| 15 | g.89211795T>G | CA393729074 | RLBP1 | c.632A>C (p.Gln211Pro) c.49A>C c.*210A>C (n.*210A>C) c.557A>C (p.Gln186Pro) c.659A>C (p.Gln220Pro) | |
| 15 | g.89211796G>A | CA393729077 | RLBP1 | c.631C>T (p.Gln211Ter) c.48C>T c.*209C>T (n.*209C>T) c.556C>T (p.Gln186Ter) c.658C>T (p.Gln220Ter) | |
| 15 | g.89211796G>C | CA393729076 | RLBP1 | c.631C>G (p.Gln211Glu) c.48C>G c.*209C>G (n.*209C>G) c.556C>G (p.Gln186Glu) c.658C>G (p.Gln220Glu) | |
| 15 | g.89211796G>T | CA393729075 | RLBP1 | c.631C>A (p.Gln211Lys) c.48C>A c.*209C>A (n.*209C>A) c.556C>A (p.Gln186Lys) c.658C>A (p.Gln220Lys) | |
| 15 | g.89211797C>A | CA393729078 | RLBP1 | c.630G>T (p.Gln210His) c.47G>T c.*208G>T (n.*208G>T) c.555G>T (p.Gln185His) c.657G>T (p.Gln219His) | |
| 15 | g.89211797C>G | CA393729079 | RLBP1 | c.630G>C (p.Gln210His) c.47G>C c.*208G>C (n.*208G>C) c.555G>C (p.Gln185His) c.657G>C (p.Gln219His) | |
| 15 | g.89211797C>T | CA492076095 | RLBP1 | c.630G>A (p.Gln210=) c.47G>A c.*208G>A (n.*208G>A) c.555G>A (p.Gln185=) c.657G>A (p.Gln219=) | |
| 15 | g.89211798T>A | CA393729080 | RLBP1 | c.629A>T (p.Gln210Leu) c.46A>T c.*207A>T (n.*207A>T) c.554A>T (p.Gln185Leu) c.656A>T (p.Gln219Leu) | |
| 15 | g.89211798T>C | CA393729081 | RLBP1 | c.629A>G (p.Gln210Arg) c.46A>G c.*207A>G (n.*207A>G) c.554A>G (p.Gln185Arg) c.656A>G (p.Gln219Arg) | gnomAD v4 |
| 15 | g.89211798T>G | CA393729082 | RLBP1 | c.629A>C (p.Gln210Pro) c.46A>C c.*207A>C (n.*207A>C) c.554A>C (p.Gln185Pro) c.656A>C (p.Gln219Pro) | |
| 15 | g.89211798_89211804delinsTGCATGG | CA2194510251 | RLBP1 | c.623_629delinsCCATGCA (p.Thr208=) c.40_46delinsCCATGCA c.*201_*207delinsCCATGCA (n.*201_*207delinsCCATGCA) c.548_554delinsCCATGCA (p.Thr183=) c.650_656delinsCCATGCA (p.Thr217=) | |
| 15 | g.89211799G>A | CA393729085 | RLBP1 | c.628C>T (p.Gln210Ter) c.45C>T c.*206C>T (n.*206C>T) c.553C>T (p.Gln185Ter) c.655C>T (p.Gln219Ter) | |
| 15 | g.89211799G>C | CA393729084 | RLBP1 | c.628C>G (p.Gln210Glu) c.45C>G c.*206C>G (n.*206C>G) c.553C>G (p.Gln185Glu) c.655C>G (p.Gln219Glu) | |
| 15 | g.89211799G>T | CA393729083 | RLBP1 | c.628C>A (p.Gln210Lys) c.45C>A c.*206C>A (n.*206C>A) c.553C>A (p.Gln185Lys) c.655C>A (p.Gln219Lys) | |
| 15 | g.89211799_89211804del | CA716899321 | RLBP1 | c.623_628del (p.Thr208_Gln210delinsLys) c.40_45del c.*201_*206del (n.*201_*206del) c.548_553del (p.Thr183_Gln185delinsLys) c.650_655del (p.Thr217_Gln219delinsLys) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211800C>A | CA393729086 | RLBP1 | c.627G>T (p.Met209Ile) c.44G>T c.*205G>T (n.*205G>T) c.552G>T (p.Met184Ile) c.654G>T (p.Met218Ile) | |
| 15 | g.89211800C>G | CA393729087 | RLBP1 | c.627G>C (p.Met209Ile) c.44G>C c.*205G>C (n.*205G>C) c.552G>C (p.Met184Ile) c.654G>C (p.Met218Ile) | |
| 15 | g.89211800C>T | CA393729088 | RLBP1 | c.627G>A (p.Met209Ile) c.44G>A c.*205G>A (n.*205G>A) c.552G>A (p.Met184Ile) c.654G>A (p.Met218Ile) | |
| 15 | g.89211801A= | CA2194510262 | RLBP1 | c.626T= (p.Met209=) c.43T= c.*204T= (n.*204T=) c.551T= (p.Met184=) c.653T= (p.Met218=) | |
| 15 | g.89211801A>C | CA393729089 | RLBP1 | c.626T>G (p.Met209Arg) c.43T>G c.*204T>G (n.*204T>G) c.551T>G (p.Met184Arg) c.653T>G (p.Met218Arg) | |
| 15 | g.89211801A>G | CA7722233 | RLBP1 | c.626T>C (p.Met209Thr) c.43T>C c.*204T>C (n.*204T>C) c.551T>C (p.Met184Thr) c.653T>C (p.Met218Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211801A>T | CA393729090 | RLBP1 | c.626T>A (p.Met209Lys) c.43T>A c.*204T>A (n.*204T>A) c.551T>A (p.Met184Lys) c.653T>A (p.Met218Lys) | gnomAD v4 |
| 15 | g.89211802T>A | CA393729091 | RLBP1 | c.625A>T (p.Met209Leu) c.42A>T c.*203A>T (n.*203A>T) c.550A>T (p.Met184Leu) c.652A>T (p.Met218Leu) | |
| 15 | g.89211802T>C | CA393729093 | RLBP1 | c.625A>G (p.Met209Val) c.42A>G c.*203A>G (n.*203A>G) c.550A>G (p.Met184Val) c.652A>G (p.Met218Val) | ClinVar dbSNP gnomAD v2 |
| 15 | g.89211802T>G | CA393729092 | RLBP1 | c.625A>C (p.Met209Leu) c.42A>C c.*203A>C (n.*203A>C) c.550A>C (p.Met184Leu) c.652A>C (p.Met218Leu) | |
| 15 | g.89211802T= | CA2194510274 | RLBP1 | c.625A= (p.Met209=) c.42A= c.*203A= (n.*203A=) c.550A= (p.Met184=) c.652A= (p.Met218=) | |
| 15 | g.89211803G>A | CA492076125 | RLBP1 | c.624C>T (p.Thr208=) c.41C>T c.*202C>T (n.*202C>T) c.549C>T (p.Thr183=) c.651C>T (p.Thr217=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211803G>C | CA492076126 | RLBP1 | c.624C>G (p.Thr208=) c.41C>G c.*202C>G (n.*202C>G) c.549C>G (p.Thr183=) c.651C>G (p.Thr217=) | |
| 15 | g.89211803G= | CA2194510295 | RLBP1 | c.624C= (p.Thr208=) c.41C= c.*202C= (n.*202C=) c.549C= (p.Thr183=) c.651C= (p.Thr217=) | |
| 15 | g.89211803G>T | CA492076127 | RLBP1 | c.624C>A (p.Thr208=) c.41C>A c.*202C>A (n.*202C>A) c.549C>A (p.Thr183=) c.651C>A (p.Thr217=) | |
| 15 | g.89211804G>A | CA393729094 | RLBP1 | c.623C>T (p.Thr208Ile) c.40C>T c.*201C>T (n.*201C>T) c.548C>T (p.Thr183Ile) c.650C>T (p.Thr217Ile) | gnomAD v4 |
| 15 | g.89211804G>C | CA393729095 | RLBP1 | c.623C>G (p.Thr208Ser) c.40C>G c.*201C>G (n.*201C>G) c.548C>G (p.Thr183Ser) c.650C>G (p.Thr217Ser) | |
| 15 | g.89211804G>T | CA393729096 | RLBP1 | c.623C>A (p.Thr208Asn) c.40C>A c.*201C>A (n.*201C>A) c.548C>A (p.Thr183Asn) c.650C>A (p.Thr217Asn) | |
| 15 | g.89211805T>A | CA393729097 | RLBP1 | c.622A>T (p.Thr208Ser) c.39A>T c.*200A>T (n.*200A>T) c.547A>T (p.Thr183Ser) c.649A>T (p.Thr217Ser) | |
| 15 | g.89211805T>C | CA393729098 | RLBP1 | c.622A>G (p.Thr208Ala) c.39A>G c.*200A>G (n.*200A>G) c.547A>G (p.Thr183Ala) c.649A>G (p.Thr217Ala) | |
| 15 | g.89211805T>G | CA393729099 | RLBP1 | c.622A>C (p.Thr208Pro) c.39A>C c.*200A>C (n.*200A>C) c.547A>C (p.Thr183Pro) c.649A>C (p.Thr217Pro) | |
| 15 | g.89211806A>C | CA393729100 | RLBP1 | c.621T>G (p.Phe207Leu) c.38T>G c.*199T>G (n.*199T>G) c.546T>G (p.Phe182Leu) c.648T>G (p.Phe216Leu) | |
| 15 | g.89211806A>G | CA492076130 | RLBP1 | c.621T>C (p.Phe207=) c.38T>C c.*199T>C (n.*199T>C) c.546T>C (p.Phe182=) c.648T>C (p.Phe216=) | gnomAD v4 |
| 15 | g.89211806A>T | CA393729101 | RLBP1 | c.621T>A (p.Phe207Leu) c.38T>A c.*199T>A (n.*199T>A) c.546T>A (p.Phe182Leu) c.648T>A (p.Phe216Leu) | |
| 15 | g.89211807A>C | CA393729102 | RLBP1 | c.620T>G (p.Phe207Cys) c.37T>G c.*198T>G (n.*198T>G) c.545T>G (p.Phe182Cys) c.647T>G (p.Phe216Cys) | |
| 15 | g.89211807A>G | CA393729103 | RLBP1 | c.620T>C (p.Phe207Ser) c.37T>C c.*198T>C (n.*198T>C) c.545T>C (p.Phe182Ser) c.647T>C (p.Phe216Ser) | gnomAD v4 |
| 15 | g.89211807A>T | CA393729104 | RLBP1 | c.620T>A (p.Phe207Tyr) c.37T>A c.*198T>A (n.*198T>A) c.545T>A (p.Phe182Tyr) c.647T>A (p.Phe216Tyr) | |
| 15 | g.89211808A>C | CA393729105 | RLBP1 | c.619T>G (p.Phe207Val) c.36T>G c.*197T>G (n.*197T>G) c.544T>G (p.Phe182Val) c.646T>G (p.Phe216Val) | |
| 15 | g.89211808A>G | CA393729107 | RLBP1 | c.619T>C (p.Phe207Leu) c.36T>C c.*197T>C (n.*197T>C) c.544T>C (p.Phe182Leu) c.646T>C (p.Phe216Leu) | |
| 15 | g.89211808A>T | CA393729106 | RLBP1 | c.619T>A (p.Phe207Ile) c.36T>A c.*197T>A (n.*197T>A) c.544T>A (p.Phe182Ile) c.646T>A (p.Phe216Ile) | |
| 15 | g.89211809G>A | CA492076132 | RLBP1 | c.618C>T (p.Gly206=) c.35C>T c.*196C>T (n.*196C>T) c.543C>T (p.Gly181=) c.645C>T (p.Gly215=) | |
| 15 | g.89211809G>C | CA492076134 | RLBP1 | c.618C>G (p.Gly206=) c.35C>G c.*196C>G (n.*196C>G) c.543C>G (p.Gly181=) c.645C>G (p.Gly215=) | |
| 15 | g.89211809G>T | CA492076135 | RLBP1 | c.618C>A (p.Gly206=) c.35C>A c.*196C>A (n.*196C>A) c.543C>A (p.Gly181=) c.645C>A (p.Gly215=) | |
| 15 | g.89211810C>A | CA393729108 | RLBP1 | c.617G>T (p.Gly206Val) c.34G>T c.*195G>T (n.*195G>T) c.542G>T (p.Gly181Val) c.644G>T (p.Gly215Val) | |
| 15 | g.89211810C>G | CA393729110 | RLBP1 | c.617G>C (p.Gly206Ala) c.34G>C c.*195G>C (n.*195G>C) c.542G>C (p.Gly181Ala) c.644G>C (p.Gly215Ala) | |
| 15 | g.89211810C>T | CA393729109 | RLBP1 | c.617G>A (p.Gly206Asp) c.34G>A c.*195G>A (n.*195G>A) c.542G>A (p.Gly181Asp) c.644G>A (p.Gly215Asp) | |
| 15 | g.89211811C>A | CA393729111 | RLBP1 | c.616G>T (p.Gly206Cys) c.33G>T c.*194G>T (n.*194G>T) c.541G>T (p.Gly181Cys) c.643G>T (p.Gly215Cys) | |
| 15 | g.89211811C>G | CA393729113 | RLBP1 | c.616G>C (p.Gly206Arg) c.33G>C c.*194G>C (n.*194G>C) c.541G>C (p.Gly181Arg) c.643G>C (p.Gly215Arg) | gnomAD v4 |
| 15 | g.89211811C>T | CA393729112 | RLBP1 | c.616G>A (p.Gly206Ser) c.33G>A c.*194G>A (n.*194G>A) c.541G>A (p.Gly181Ser) c.643G>A (p.Gly215Ser) | gnomAD v4 |
| 15 | g.89211811_89211820delinsCCTTGAAGTT | CA2194510300 | RLBP1 | c.607_616delinsAACTTCAAGG (p.Asn203=) c.24_33delinsAACTTCAAGG c.*185_*194delinsAACTTCAAGG (n.*185_*194delinsAACTTCAAGG) c.532_541delinsAACTTCAAGG (p.Asn178=) c.634_643delinsAACTTCAAGG (p.Asn212=) | |
| 15 | g.89211811_89211812insTG | CA2630242579 | RLBP1 | c.615_616insCA (p.Gly206GlnfsTer?) c.32_33insCA c.*193_*194insCA (n.*193_*194insCA) c.540_541insCA (p.Gly181GlnfsTer?) c.642_643insCA (p.Gly215GlnfsTer?) | gnomAD v4 |
| 15 | g.89211812C>A | CA393729114 | RLBP1 | c.615G>T (p.Lys205Asn) c.32G>T c.*193G>T (n.*193G>T) c.540G>T (p.Lys180Asn) c.642G>T (p.Lys214Asn) | |
| 15 | g.89211812C= | CA2194510304 | RLBP1 | c.615G= (p.Lys205=) c.32G= c.*193G= (n.*193G=) c.540G= (p.Lys180=) c.642G= (p.Lys214=) | |
| 15 | g.89211812C>G | CA393729115 | RLBP1 | c.615G>C (p.Lys205Asn) c.32G>C c.*193G>C (n.*193G>C) c.540G>C (p.Lys180Asn) c.642G>C (p.Lys214Asn) | |
| 15 | g.89211812C>T | CA274532640 | RLBP1 | c.615G>A (p.Lys205=) c.32G>A c.*193G>A (n.*193G>A) c.540G>A (p.Lys180=) c.642G>A (p.Lys214=) | dbSNP |
| 15 | g.89211814_89211822del | CA2194510302 | RLBP1 | c.607_615del (p.Asn203_Lys205del) c.24_32del c.*185_*193del (n.*185_*193del) c.532_540del (p.Asn178_Lys180del) c.634_642del (p.Asn212_Lys214del) | dbSNP |
| 15 | g.89211813T>A | CA393729116 | RLBP1 | c.614A>T (p.Lys205Met) c.31A>T c.*192A>T (n.*192A>T) c.539A>T (p.Lys180Met) c.641A>T (p.Lys214Met) | |
| 15 | g.89211813T>C | CA393729117 | RLBP1 | c.614A>G (p.Lys205Arg) c.31A>G c.*192A>G (n.*192A>G) c.539A>G (p.Lys180Arg) c.641A>G (p.Lys214Arg) | |
| 15 | g.89211813T>G | CA393729118 | RLBP1 | c.614A>C (p.Lys205Thr) c.31A>C c.*192A>C (n.*192A>C) c.539A>C (p.Lys180Thr) c.641A>C (p.Lys214Thr) | |
| 15 | g.89211813_89211814insGCA | CA2630242581 | RLBP1 | c.613_614insTGC (p.Lys205delinsMetGln) c.30_31insTGC c.*191_*192insTGC (n.*191_*192insTGC) c.538_539insTGC (p.Lys180delinsMetGln) c.640_641insTGC (p.Lys214delinsMetGln) | gnomAD v4 |
| 15 | g.89211814T>A | CA393729119 | RLBP1 | c.613A>T (p.Lys205Ter) c.30A>T c.*191A>T (n.*191A>T) c.538A>T (p.Lys180Ter) c.640A>T (p.Lys214Ter) | |
| 15 | g.89211814T>C | CA7722234 | RLBP1 | c.613A>G (p.Lys205Glu) c.30A>G c.*191A>G (n.*191A>G) c.538A>G (p.Lys180Glu) c.640A>G (p.Lys214Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89211814T>G | CA393729120 | RLBP1 | c.613A>C (p.Lys205Gln) c.30A>C c.*191A>C (n.*191A>C) c.538A>C (p.Lys180Gln) c.640A>C (p.Lys214Gln) | |
| 15 | g.89211814T= | CA2194510314 | RLBP1 | c.613A= (p.Lys205=) c.30A= c.*191A= (n.*191A=) c.538A= (p.Lys180=) c.640A= (p.Lys214=) | |
| 15 | g.89211815G>A | CA492076141 | RLBP1 | c.612C>T (p.Phe204=) c.29C>T c.*190C>T (n.*190C>T) c.537C>T (p.Phe179=) c.639C>T (p.Phe213=) | |
| 15 | g.89211815G>C | CA393729122 | RLBP1 | c.612C>G (p.Phe204Leu) c.29C>G c.*190C>G (n.*190C>G) c.537C>G (p.Phe179Leu) c.639C>G (p.Phe213Leu) | gnomAD v4 |
| 15 | g.89211815G= | CA2194510319 | RLBP1 | c.612C= (p.Phe204=) c.29C= c.*190C= (n.*190C=) c.537C= (p.Phe179=) c.639C= (p.Phe213=) | |
| 15 | g.89211815G>T | CA393729121 | RLBP1 | c.612C>A (p.Phe204Leu) c.29C>A c.*190C>A (n.*190C>A) c.537C>A (p.Phe179Leu) c.639C>A (p.Phe213Leu) | dbSNP |
| 15 | g.89211815_89211816insGTA | CA2630242582 | RLBP1 | c.611_612insTAC (p.Phe204_Lys205insThr) c.28_29insTAC c.*189_*190insTAC (n.*189_*190insTAC) c.536_537insTAC (p.Phe179_Lys180insThr) c.638_639insTAC (p.Phe213_Lys214insThr) | gnomAD v4 |
| 15 | g.89211816A>C | CA393729123 | RLBP1 | c.611T>G (p.Phe204Cys) c.28T>G c.*189T>G (n.*189T>G) c.536T>G (p.Phe179Cys) c.638T>G (p.Phe213Cys) | |
| 15 | g.89211816A>G | CA393729124 | RLBP1 | c.611T>C (p.Phe204Ser) c.28T>C c.*189T>C (n.*189T>C) c.536T>C (p.Phe179Ser) c.638T>C (p.Phe213Ser) | |
| 15 | g.89211816A>T | CA393729125 | RLBP1 | c.611T>A (p.Phe204Tyr) c.28T>A c.*189T>A (n.*189T>A) c.536T>A (p.Phe179Tyr) c.638T>A (p.Phe213Tyr) | |
| 15 | g.89211817A>C | CA393729126 | RLBP1 | c.610T>G (p.Phe204Val) c.27T>G c.*188T>G (n.*188T>G) c.535T>G (p.Phe179Val) c.637T>G (p.Phe213Val) | |
| 15 | g.89211817A>G | CA393729127 | RLBP1 | c.610T>C (p.Phe204Leu) c.27T>C c.*188T>C (n.*188T>C) c.535T>C (p.Phe179Leu) c.637T>C (p.Phe213Leu) | |
| 15 | g.89211817A>T | CA393729128 | RLBP1 | c.610T>A (p.Phe204Ile) c.27T>A c.*188T>A (n.*188T>A) c.535T>A (p.Phe179Ile) c.637T>A (p.Phe213Ile) | |
| 15 | g.89211818G>A | CA7722235 | RLBP1 | c.609C>T (p.Asn203=) c.26C>T c.*187C>T (n.*187C>T) c.534C>T (p.Asn178=) c.636C>T (p.Asn212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89211818G>C | CA393729130 | RLBP1 | c.609C>G (p.Asn203Lys) c.26C>G c.*187C>G (n.*187C>G) c.534C>G (p.Asn178Lys) c.636C>G (p.Asn212Lys) | |
| 15 | g.89211818G= | CA2194510324 | RLBP1 | c.609C= (p.Asn203=) c.26C= c.*187C= (n.*187C=) c.534C= (p.Asn178=) c.636C= (p.Asn212=) | |
| 15 | g.89211818G>T | CA393729129 | RLBP1 | c.609C>A (p.Asn203Lys) c.26C>A c.*187C>A (n.*187C>A) c.534C>A (p.Asn178Lys) c.636C>A (p.Asn212Lys) | |
| 15 | g.89211819T>A | CA393729131 | RLBP1 | c.608A>T (p.Asn203Ile) c.25A>T c.*186A>T (n.*186A>T) c.533A>T (p.Asn178Ile) c.635A>T (p.Asn212Ile) | |
| 15 | g.89211819T>C | CA393729132 | RLBP1 | c.608A>G (p.Asn203Ser) c.25A>G c.*186A>G (n.*186A>G) c.533A>G (p.Asn178Ser) c.635A>G (p.Asn212Ser) | |
| 15 | g.89211819T>G | CA393729133 | RLBP1 | c.608A>C (p.Asn203Thr) c.25A>C c.*186A>C (n.*186A>C) c.533A>C (p.Asn178Thr) c.635A>C (p.Asn212Thr) | |
| 15 | g.89211820T>A | CA7722236 | RLBP1 | c.607A>T (p.Asn203Tyr) c.24A>T c.*185A>T (n.*185A>T) c.532A>T (p.Asn178Tyr) c.634A>T (p.Asn212Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89211820T>C | CA393729134 | RLBP1 | c.607A>G (p.Asn203Asp) c.24A>G c.*185A>G (n.*185A>G) c.532A>G (p.Asn178Asp) c.634A>G (p.Asn212Asp) | |
| 15 | g.89211820T>G | CA393729135 | RLBP1 | c.607A>C (p.Asn203His) c.24A>C c.*185A>C (n.*185A>C) c.532A>C (p.Asn178His) c.634A>C (p.Asn212His) | |
| 15 | g.89211820T= | CA2194510327 | RLBP1 | c.607A= (p.Asn203=) c.24A= c.*185A= (n.*185A=) c.532A= (p.Asn178=) c.634A= (p.Asn212=) | |
| 15 | g.89211821C>A | CA393729136 | RLBP1 | c.606G>T (p.Glu202Asp) c.23G>T c.*184G>T (n.*184G>T) c.531G>T (p.Glu177Asp) c.633G>T (p.Glu211Asp) | |
| 15 | g.89211821C= | CA2194510330 | RLBP1 | c.606G= (p.Glu202=) c.23G= c.*184G= (n.*184G=) c.531G= (p.Glu177=) c.633G= (p.Glu211=) | |
| 15 | g.89211821C>G | CA393729137 | RLBP1 | c.606G>C (p.Glu202Asp) c.23G>C c.*184G>C (n.*184G>C) c.531G>C (p.Glu177Asp) c.633G>C (p.Glu211Asp) | |
| 15 | g.89211821C>T | CA492076167 | RLBP1 | c.606G>A (p.Glu202=) c.23G>A c.*184G>A (n.*184G>A) c.531G>A (p.Glu177=) c.633G>A (p.Glu211=) | dbSNP |
| 15 | g.89211822T>A | CA393729138 | RLBP1 | c.605A>T (p.Glu202Val) c.22A>T c.*183A>T (n.*183A>T) c.530A>T (p.Glu177Val) c.632A>T (p.Glu211Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211822T>C | CA393729139 | RLBP1 | c.605A>G (p.Glu202Gly) c.22A>G c.*183A>G (n.*183A>G) c.530A>G (p.Glu177Gly) c.632A>G (p.Glu211Gly) | ClinVar dbSNP |
| 15 | g.89211822T>G | CA393729140 | RLBP1 | c.605A>C (p.Glu202Ala) c.22A>C c.*183A>C (n.*183A>C) c.530A>C (p.Glu177Ala) c.632A>C (p.Glu211Ala) | |
| 15 | g.89211822T= | CA2194510331 | RLBP1 | c.605A= (p.Glu202=) c.22A= c.*183A= (n.*183A=) c.530A= (p.Glu177=) c.632A= (p.Glu211=) | |
| 15 | g.89211823C>A | CA393729141 | RLBP1 | c.604G>T (p.Glu202Ter) c.21G>T c.*182G>T (n.*182G>T) c.529G>T (p.Glu177Ter) c.631G>T (p.Glu211Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211823C= | CA2194510334 | RLBP1 | c.604G= (p.Glu202=) c.21G= c.*182G= (n.*182G=) c.529G= (p.Glu177=) c.631G= (p.Glu211=) | |
| 15 | g.89211823C>G | CA393729143 | RLBP1 | c.604G>C (p.Glu202Gln) c.21G>C c.*182G>C (n.*182G>C) c.529G>C (p.Glu177Gln) c.631G>C (p.Glu211Gln) | |
| 15 | g.89211823C>T | CA393729142 | RLBP1 | c.604G>A (p.Glu202Lys) c.21G>A c.*182G>A (n.*182G>A) c.529G>A (p.Glu177Lys) c.631G>A (p.Glu211Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211824A>C | CA393729144 | RLBP1 | c.603T>G (p.Ile201Met) c.20T>G c.*181T>G (n.*181T>G) c.528T>G (p.Ile176Met) c.630T>G (p.Ile210Met) | |
| 15 | g.89211824A>G | CA492076185 | RLBP1 | c.603T>C (p.Ile201=) c.20T>C c.*181T>C (n.*181T>C) c.528T>C (p.Ile176=) c.630T>C (p.Ile210=) | |
| 15 | g.89211824A>T | CA492076187 | RLBP1 | c.603T>A (p.Ile201=) c.20T>A c.*181T>A (n.*181T>A) c.528T>A (p.Ile176=) c.630T>A (p.Ile210=) | |
| 15 | g.89211825A= | CA2194510340 | RLBP1 | c.602T= (p.Ile201=) c.19T= c.*180T= (n.*180T=) c.527T= (p.Ile176=) c.629T= (p.Ile210=) | |
| 15 | g.89211825A>C | CA393729145 | RLBP1 | c.602T>G (p.Ile201Ser) c.19T>G c.*180T>G (n.*180T>G) c.527T>G (p.Ile176Ser) c.629T>G (p.Ile210Ser) | |
| 15 | g.89211825A>G | CA7722237 | RLBP1 | c.602T>C (p.Ile201Thr) c.19T>C c.*180T>C (n.*180T>C) c.527T>C (p.Ile176Thr) c.629T>C (p.Ile210Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211825A>T | CA393729146 | RLBP1 | c.602T>A (p.Ile201Asn) c.19T>A c.*180T>A (n.*180T>A) c.527T>A (p.Ile176Asn) c.629T>A (p.Ile210Asn) | |
| 15 | g.89211826T>A | CA393729147 | RLBP1 | c.601A>T (p.Ile201Phe) c.18A>T c.*179A>T (n.*179A>T) c.526A>T (p.Ile176Phe) c.628A>T (p.Ile210Phe) | gnomAD v4 |
| 15 | g.89211826T>C | CA393729148 | RLBP1 | c.601A>G (p.Ile201Val) c.18A>G c.*179A>G (n.*179A>G) c.526A>G (p.Ile176Val) c.628A>G (p.Ile210Val) | |
| 15 | g.89211826T>G | CA393729149 | RLBP1 | c.601A>C (p.Ile201Leu) c.18A>C c.*179A>C (n.*179A>C) c.526A>C (p.Ile176Leu) c.628A>C (p.Ile210Leu) | |
| 15 | g.89211827G>A | CA492076208 | RLBP1 | c.600C>T (p.Ile200=) c.17C>T c.*178C>T (n.*178C>T) c.525C>T (p.Ile175=) c.627C>T (p.Ile209=) | gnomAD v4 |
| 15 | g.89211827G>C | CA393729150 | RLBP1 | c.600C>G (p.Ile200Met) c.17C>G c.*178C>G (n.*178C>G) c.525C>G (p.Ile175Met) c.627C>G (p.Ile209Met) | |
| 15 | g.89211827G>T | CA492076206 | RLBP1 | c.600C>A (p.Ile200=) c.17C>A c.*178C>A (n.*178C>A) c.525C>A (p.Ile175=) c.627C>A (p.Ile209=) | |
| 15 | g.89211828A>C | CA393729151 | RLBP1 | c.599T>G (p.Ile200Ser) c.16T>G c.*177T>G (n.*177T>G) c.524T>G (p.Ile175Ser) c.626T>G (p.Ile209Ser) | |
| 15 | g.89211828A>G | CA393729152 | RLBP1 | c.599T>C (p.Ile200Thr) c.16T>C c.*177T>C (n.*177T>C) c.524T>C (p.Ile175Thr) c.626T>C (p.Ile209Thr) | |
| 15 | g.89211828A>T | CA393729153 | RLBP1 | c.599T>A (p.Ile200Asn) c.16T>A c.*177T>A (n.*177T>A) c.524T>A (p.Ile175Asn) c.626T>A (p.Ile209Asn) | |
| 15 | g.89211829T>A | CA393729156 | RLBP1 | c.598A>T (p.Ile200Phe) c.15A>T c.*176A>T (n.*176A>T) c.523A>T (p.Ile175Phe) c.625A>T (p.Ile209Phe) | |
| 15 | g.89211829T>C | CA393729154 | RLBP1 | c.598A>G (p.Ile200Val) c.15A>G c.*176A>G (n.*176A>G) c.523A>G (p.Ile175Val) c.625A>G (p.Ile209Val) | |
| 15 | g.89211829T>G | CA393729155 | RLBP1 | c.598A>C (p.Ile200Leu) c.15A>C c.*176A>C (n.*176A>C) c.523A>C (p.Ile175Leu) c.625A>C (p.Ile209Leu) | |
| 15 | g.89211830G>A | CA492076223 | RLBP1 | c.597C>T (p.Cys199=) c.14C>T c.*175C>T (n.*175C>T) c.522C>T (p.Cys174=) c.624C>T (p.Cys208=) | |
| 15 | g.89211830G>C | CA393729157 | RLBP1 | c.597C>G (p.Cys199Trp) c.14C>G c.*175C>G (n.*175C>G) c.522C>G (p.Cys174Trp) c.624C>G (p.Cys208Trp) | |
| 15 | g.89211830G>T | CA393729158 | RLBP1 | c.597C>A (p.Cys199Ter) c.14C>A c.*175C>A (n.*175C>A) c.522C>A (p.Cys174Ter) c.624C>A (p.Cys208Ter) | |
| 15 | g.89211831C>A | CA393729159 | RLBP1 | c.596G>T (p.Cys199Phe) c.13G>T c.*174G>T (n.*174G>T) c.521G>T (p.Cys174Phe) c.623G>T (p.Cys208Phe) | |
| 15 | g.89211831C>G | CA393729160 | RLBP1 | c.596G>C (p.Cys199Ser) c.13G>C c.*174G>C (n.*174G>C) c.521G>C (p.Cys174Ser) c.623G>C (p.Cys208Ser) | COSMIC |
| 15 | g.89211831C>T | CA393729161 | RLBP1 | c.596G>A (p.Cys199Tyr) c.13G>A c.*174G>A (n.*174G>A) c.521G>A (p.Cys174Tyr) c.623G>A (p.Cys208Tyr) | |
| 15 | g.89211832A>C | CA393729162 | RLBP1 | c.595T>G (p.Cys199Gly) c.12T>G c.*173T>G (n.*173T>G) c.520T>G (p.Cys174Gly) c.622T>G (p.Cys208Gly) | |
| 15 | g.89211832A>G | CA393729163 | RLBP1 | c.595T>C (p.Cys199Arg) c.12T>C c.*173T>C (n.*173T>C) c.520T>C (p.Cys174Arg) c.622T>C (p.Cys208Arg) | |
| 15 | g.89211832A>T | CA393729164 | RLBP1 | c.595T>A (p.Cys199Ser) c.12T>A c.*173T>A (n.*173T>A) c.520T>A (p.Cys174Ser) c.622T>A (p.Cys208Ser) | |
| 15 | g.89211833G>A | CA7722238 | RLBP1 | c.594C>T (p.Phe198=) c.11C>T c.*172C>T (n.*172C>T) c.519C>T (p.Phe173=) c.621C>T (p.Phe207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211833G>C | CA393729165 | RLBP1 | c.594C>G (p.Phe198Leu) c.11C>G c.*172C>G (n.*172C>G) c.519C>G (p.Phe173Leu) c.621C>G (p.Phe207Leu) | |
| 15 | g.89211833G= | CA2194510352 | RLBP1 | c.594C= (p.Phe198=) c.11C= c.*172C= (n.*172C=) c.519C= (p.Phe173=) c.621C= (p.Phe207=) | |
| 15 | g.89211833G>T | CA393729166 | RLBP1 | c.594C>A (p.Phe198Leu) c.11C>A c.*172C>A (n.*172C>A) c.519C>A (p.Phe173Leu) c.621C>A (p.Phe207Leu) | gnomAD v4 |
| 15 | g.89211834A>C | CA393729168 | RLBP1 | c.593T>G (p.Phe198Cys) c.10T>G c.*171T>G (n.*171T>G) c.518T>G (p.Phe173Cys) c.620T>G (p.Phe207Cys) | |
| 15 | g.89211834A>G | CA393729169 | RLBP1 | c.593T>C (p.Phe198Ser) c.10T>C c.*171T>C (n.*171T>C) c.518T>C (p.Phe173Ser) c.620T>C (p.Phe207Ser) | |
| 15 | g.89211834A>T | CA393729167 | RLBP1 | c.593T>A (p.Phe198Tyr) c.10T>A c.*171T>A (n.*171T>A) c.518T>A (p.Phe173Tyr) c.620T>A (p.Phe207Tyr) | |
| 15 | g.89211835A>C | CA393729172 | RLBP1 | c.592T>G (p.Phe198Val) c.9T>G c.*170T>G (n.*170T>G) c.517T>G (p.Phe173Val) c.619T>G (p.Phe207Val) | |
| 15 | g.89211835A>G | CA393729170 | RLBP1 | c.592T>C (p.Phe198Leu) c.9T>C c.*170T>C (n.*170T>C) c.517T>C (p.Phe173Leu) c.619T>C (p.Phe207Leu) | |
| 15 | g.89211835A>T | CA393729171 | RLBP1 | c.592T>A (p.Phe198Ile) c.9T>A c.*170T>A (n.*170T>A) c.517T>A (p.Phe173Ile) c.619T>A (p.Phe207Ile) | |
| 15 | g.89211836G>A | CA492076273 | RLBP1 | c.591C>T (p.Gly197=) c.8C>T c.*169C>T (n.*169C>T) c.516C>T (p.Gly172=) c.618C>T (p.Gly206=) | |
| 15 | g.89211836G>C | CA492076277 | RLBP1 | c.591C>G (p.Gly197=) c.8C>G c.*169C>G (n.*169C>G) c.516C>G (p.Gly172=) c.618C>G (p.Gly206=) | |
| 15 | g.89211836G>T | CA492076280 | RLBP1 | c.591C>A (p.Gly197=) c.8C>A c.*169C>A (n.*169C>A) c.516C>A (p.Gly172=) c.618C>A (p.Gly206=) | |
| 15 | g.89211837C>A | CA393729173 | RLBP1 | c.590G>T (p.Gly197Val) c.7G>T c.*168G>T (n.*168G>T) c.515G>T (p.Gly172Val) c.617G>T (p.Gly206Val) | |
| 15 | g.89211837C>G | CA393729174 | RLBP1 | c.590G>C (p.Gly197Ala) c.7G>C c.*168G>C (n.*168G>C) c.515G>C (p.Gly172Ala) c.617G>C (p.Gly206Ala) | |
| 15 | g.89211837C>T | CA393729175 | RLBP1 | c.590G>A (p.Gly197Asp) c.7G>A c.*168G>A (n.*168G>A) c.515G>A (p.Gly172Asp) c.617G>A (p.Gly206Asp) | |
| 15 | g.89211838C>A | CA393729176 | RLBP1 | c.589G>T (p.Gly197Cys) c.6G>T c.*167G>T (n.*167G>T) c.514G>T (p.Gly172Cys) c.616G>T (p.Gly206Cys) | |
| 15 | g.89211838C>G | CA393729177 | RLBP1 | c.589G>C (p.Gly197Arg) c.6G>C c.*167G>C (n.*167G>C) c.514G>C (p.Gly172Arg) c.616G>C (p.Gly206Arg) | |
| 15 | g.89211838C>T | CA393729178 | RLBP1 | c.589G>A (p.Gly197Ser) c.6G>A c.*167G>A (n.*167G>A) c.514G>A (p.Gly172Ser) c.616G>A (p.Gly206Ser) | |
| 15 | g.89211839A>C | CA393729179 | RLBP1 | c.588T>G (p.Asn196Lys) c.5T>G c.*166T>G (n.*166T>G) c.513T>G (p.Asn171Lys) c.615T>G (p.Asn205Lys) | |
| 15 | g.89211839A>G | CA492076308 | RLBP1 | c.588T>C (p.Asn196=) c.5T>C c.*166T>C (n.*166T>C) c.513T>C (p.Asn171=) c.615T>C (p.Asn205=) | ClinVar dbSNP |
| 15 | g.89211839A>T | CA393729180 | RLBP1 | c.588T>A (p.Asn196Lys) c.5T>A c.*166T>A (n.*166T>A) c.513T>A (p.Asn171Lys) c.615T>A (p.Asn205Lys) | |
| 15 | g.89211840T>A | CA393729181 | RLBP1 | c.587A>T (p.Asn196Ile) c.4A>T c.*165A>T (n.*165A>T) c.512A>T (p.Asn171Ile) c.614A>T (p.Asn205Ile) | |
| 15 | g.89211840T>C | CA393729182 | RLBP1 | c.587A>G (p.Asn196Ser) c.4A>G c.*165A>G (n.*165A>G) c.512A>G (p.Asn171Ser) c.614A>G (p.Asn205Ser) | |
| 15 | g.89211840T>G | CA393729183 | RLBP1 | c.587A>C (p.Asn196Thr) c.4A>C c.*165A>C (n.*165A>C) c.512A>C (p.Asn171Thr) c.614A>C (p.Asn205Thr) | |
| 15 | g.89211841T>A | CA393729184 | RLBP1 | c.586A>T (p.Asn196Tyr) c.3A>T c.*164A>T (n.*164A>T) c.511A>T (p.Asn171Tyr) c.613A>T (p.Asn205Tyr) | |
| 15 | g.89211841T>C | CA393729186 | RLBP1 | c.586A>G (p.Asn196Asp) c.3A>G c.*164A>G (n.*164A>G) c.511A>G (p.Asn171Asp) c.613A>G (p.Asn205Asp) | |
| 15 | g.89211841T>G | CA393729185 | RLBP1 | c.586A>C (p.Asn196His) c.3A>C c.*164A>C (n.*164A>C) c.511A>C (p.Asn171His) c.613A>C (p.Asn205His) | |
| 15 | g.89211842G>A | CA492076337 | RLBP1 | c.585C>T (p.Ile195=) c.2C>T c.*163C>T (n.*163C>T) c.510C>T (p.Ile170=) c.612C>T (p.Ile204=) | gnomAD v4 |
| 15 | g.89211842G>C | CA393729187 | RLBP1 | c.585C>G (p.Ile195Met) c.2C>G c.*163C>G (n.*163C>G) c.510C>G (p.Ile170Met) c.612C>G (p.Ile204Met) | |
| 15 | g.89211842G>T | CA492076346 | RLBP1 | c.585C>A (p.Ile195=) c.2C>A c.*163C>A (n.*163C>A) c.510C>A (p.Ile170=) c.612C>A (p.Ile204=) | |
| 15 | g.89211843A= | CA2194510355 | RLBP1 | c.584T= (p.Ile195=) c.1T= c.*162T= (n.*162T=) c.509T= (p.Ile170=) c.611T= (p.Ile204=) | |
| 15 | g.89211843A>C | CA393729188 | RLBP1 | c.584T>G (p.Ile195Ser) c.1T>G c.*162T>G (n.*162T>G) c.509T>G (p.Ile170Ser) c.611T>G (p.Ile204Ser) | |
| 15 | g.89211843A>G | CA7722239 | RLBP1 | c.584T>C (p.Ile195Thr) c.1T>C c.*162T>C (n.*162T>C) c.509T>C (p.Ile170Thr) c.611T>C (p.Ile204Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89211843A>T | CA393729189 | RLBP1 | c.584T>A (p.Ile195Asn) c.1T>A c.*162T>A (n.*162T>A) c.509T>A (p.Ile170Asn) c.611T>A (p.Ile204Asn) | |
| 15 | g.89211844T>A | CA393729190 | RLBP1 | c.583A>T (p.Ile195Phe) c.*161A>T (n.*161A>T) c.508A>T (p.Ile170Phe) c.610A>T (p.Ile204Phe) | |
| 15 | g.89211844T>C | CA393729191 | RLBP1 | c.583A>G (p.Ile195Val) c.*161A>G (n.*161A>G) c.508A>G (p.Ile170Val) c.610A>G (p.Ile204Val) | |
| 15 | g.89211844T>G | CA393729192 | RLBP1 | c.583A>C (p.Ile195Leu) c.*161A>C (n.*161A>C) c.508A>C (p.Ile170Leu) c.610A>C (p.Ile204Leu) | |
| 15 | g.89211845T>A | CA393729193 | RLBP1 | c.582A>T (p.Gln194His) c.*160A>T (n.*160A>T) c.507A>T (p.Gln169His) c.609A>T (p.Gln203His) | gnomAD v4 |
| 15 | g.89211845T>C | CA7722240 | RLBP1 | c.582A>G (p.Gln194=) c.*160A>G (n.*160A>G) c.507A>G (p.Gln169=) c.609A>G (p.Gln203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211845T>G | CA393729194 | RLBP1 | c.582A>C (p.Gln194His) c.*160A>C (n.*160A>C) c.507A>C (p.Gln169His) c.609A>C (p.Gln203His) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211845T= | CA2194510359 | RLBP1 | c.582A= (p.Gln194=) c.*160A= (n.*160A=) c.507A= (p.Gln169=) c.609A= (p.Gln203=) | |
| 15 | g.89211846T>A | CA393729196 | RLBP1 | c.581A>T (p.Gln194Leu) c.*159A>T (n.*159A>T) c.506A>T (p.Gln169Leu) c.608A>T (p.Gln203Leu) | |
| 15 | g.89211846T>C | CA393729197 | RLBP1 | c.581A>G (p.Gln194Arg) c.*159A>G (n.*159A>G) c.506A>G (p.Gln169Arg) c.608A>G (p.Gln203Arg) | |
| 15 | g.89211846T>G | CA393729195 | RLBP1 | c.581A>C (p.Gln194Pro) c.*159A>C (n.*159A>C) c.506A>C (p.Gln169Pro) c.608A>C (p.Gln203Pro) | |
| 15 | g.89211847G>A | CA393729198 | RLBP1 | c.580C>T (p.Gln194Ter) c.*158C>T (n.*158C>T) c.505C>T (p.Gln169Ter) c.607C>T (p.Gln203Ter) | |
| 15 | g.89211847G>C | CA393729199 | RLBP1 | c.580C>G (p.Gln194Glu) c.*158C>G (n.*158C>G) c.505C>G (p.Gln169Glu) c.607C>G (p.Gln203Glu) | gnomAD v4 |
| 15 | g.89211847G>T | CA393729200 | RLBP1 | c.580C>A (p.Gln194Lys) c.*158C>A (n.*158C>A) c.505C>A (p.Gln169Lys) c.607C>A (p.Gln203Lys) | |
| 15 | g.89211848A>C | CA492076395 | RLBP1 | c.579T>G (p.Thr193=) c.*157T>G (n.*157T>G) c.504T>G (p.Thr168=) c.606T>G (p.Thr202=) | |
| 15 | g.89211848A>G | CA492076397 | RLBP1 | c.579T>C (p.Thr193=) c.*157T>C (n.*157T>C) c.504T>C (p.Thr168=) c.606T>C (p.Thr202=) | gnomAD v4 |
| 15 | g.89211848A>T | CA492076401 | RLBP1 | c.579T>A (p.Thr193=) c.*157T>A (n.*157T>A) c.504T>A (p.Thr168=) c.606T>A (p.Thr202=) | |
| 15 | g.89211849G>A | CA393729201 | RLBP1 | c.578C>T (p.Thr193Ile) c.*156C>T (n.*156C>T) c.503C>T (p.Thr168Ile) c.605C>T (p.Thr202Ile) | |
| 15 | g.89211849G>C | CA393729202 | RLBP1 | c.578C>G (p.Thr193Ser) c.*156C>G (n.*156C>G) c.503C>G (p.Thr168Ser) c.605C>G (p.Thr202Ser) | |
| 15 | g.89211849G>T | CA393729203 | RLBP1 | c.578C>A (p.Thr193Asn) c.*156C>A (n.*156C>A) c.503C>A (p.Thr168Asn) c.605C>A (p.Thr202Asn) | |
| 15 | g.89211850T>A | CA393729206 | RLBP1 | c.577A>T (p.Thr193Ser) c.*155A>T (n.*155A>T) c.502A>T (p.Thr168Ser) c.604A>T (p.Thr202Ser) | |
| 15 | g.89211850T>C | CA393729204 | RLBP1 | c.577A>G (p.Thr193Ala) c.*155A>G (n.*155A>G) c.502A>G (p.Thr168Ala) c.604A>G (p.Thr202Ala) | |
| 15 | g.89211850T>G | CA393729205 | RLBP1 | c.577A>C (p.Thr193Pro) c.*155A>C (n.*155A>C) c.502A>C (p.Thr168Pro) c.604A>C (p.Thr202Pro) | |
| 15 | g.89211851T>A | CA393729207 | RLBP1 | c.576A>T (p.Glu192Asp) c.*154A>T (n.*154A>T) c.501A>T (p.Glu167Asp) c.603A>T (p.Glu201Asp) | COSMIC |
| 15 | g.89211851T>C | CA492076429 | RLBP1 | c.576A>G (p.Glu192=) c.*154A>G (n.*154A>G) c.501A>G (p.Glu167=) c.603A>G (p.Glu201=) | |
| 15 | g.89211851T>G | CA393729208 | RLBP1 | c.576A>C (p.Glu192Asp) c.*154A>C (n.*154A>C) c.501A>C (p.Glu167Asp) c.603A>C (p.Glu201Asp) | |
| 15 | g.89211852T>A | CA393729209 | RLBP1 | c.575A>T (p.Glu192Val) c.*153A>T (n.*153A>T) c.500A>T (p.Glu167Val) c.602A>T (p.Glu201Val) | COSMIC |
| 15 | g.89211852T>C | CA393729210 | RLBP1 | c.575A>G (p.Glu192Gly) c.*153A>G (n.*153A>G) c.500A>G (p.Glu167Gly) c.602A>G (p.Glu201Gly) | |
| 15 | g.89211852T>G | CA393729211 | RLBP1 | c.575A>C (p.Glu192Ala) c.*153A>C (n.*153A>C) c.500A>C (p.Glu167Ala) c.602A>C (p.Glu201Ala) | dbSNP |
| 15 | g.89211852T= | CA2194510361 | RLBP1 | c.575A= (p.Glu192=) c.*153A= (n.*153A=) c.500A= (p.Glu167=) c.602A= (p.Glu201=) | |
| 15 | g.89211853C>A | CA393729212 | RLBP1 | c.574G>T (p.Glu192Ter) c.*152G>T (n.*152G>T) c.499G>T (p.Glu167Ter) c.601G>T (p.Glu201Ter) | |
| 15 | g.89211853C= | CA2194510366 | RLBP1 | c.574G= (p.Glu192=) c.*152G= (n.*152G=) c.499G= (p.Glu167=) c.601G= (p.Glu201=) | |
| 15 | g.89211853C>G | CA393729214 | RLBP1 | c.574G>C (p.Glu192Gln) c.*152G>C (n.*152G>C) c.499G>C (p.Glu167Gln) c.601G>C (p.Glu201Gln) | |
| 15 | g.89211853C>T | CA393729213 | RLBP1 | c.574G>A (p.Glu192Lys) c.*152G>A (n.*152G>A) c.499G>A (p.Glu167Lys) c.601G>A (p.Glu201Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211854del | CA2575831879 | RLBP1 | c.574del (p.Glu192LysfsTer?) c.*152del (n.*152del) c.499del (p.Glu167LysfsTer?) c.601del (p.Glu201LysfsTer?) | gnomAD v4 |
| 15 | g.89211854C>A | CA393729215 | RLBP1 | c.573G>T (p.Glu191Asp) c.*151G>T (n.*151G>T) c.498G>T (p.Glu166Asp) c.600G>T (p.Glu200Asp) | |
| 15 | g.89211854C>G | CA393729216 | RLBP1 | c.573G>C (p.Glu191Asp) c.*151G>C (n.*151G>C) c.498G>C (p.Glu166Asp) c.600G>C (p.Glu200Asp) | |
| 15 | g.89211854C>T | CA492076444 | RLBP1 | c.573G>A (p.Glu191=) c.*151G>A (n.*151G>A) c.498G>A (p.Glu166=) c.600G>A (p.Glu200=) | |
| 15 | g.89211855T>A | CA393729217 | RLBP1 | c.572A>T (p.Glu191Val) c.*150A>T (n.*150A>T) c.497A>T (p.Glu166Val) c.599A>T (p.Glu200Val) | |
| 15 | g.89211855T>C | CA393729218 | RLBP1 | c.572A>G (p.Glu191Gly) c.*150A>G (n.*150A>G) c.497A>G (p.Glu166Gly) c.599A>G (p.Glu200Gly) | dbSNP |
| 15 | g.89211855T>G | CA393729219 | RLBP1 | c.572A>C (p.Glu191Ala) c.*150A>C (n.*150A>C) c.497A>C (p.Glu166Ala) c.599A>C (p.Glu200Ala) | |
| 15 | g.89211855T= | CA2194510372 | RLBP1 | c.572A= (p.Glu191=) c.*150A= (n.*150A=) c.497A= (p.Glu166=) c.599A= (p.Glu200=) | |
| 15 | g.89211856C>A | CA393729220 | RLBP1 | c.571G>T (p.Glu191Ter) c.*149G>T (n.*149G>T) c.496G>T (p.Glu166Ter) c.598G>T (p.Glu200Ter) | |
| 15 | g.89211856C= | CA2194510377 | RLBP1 | c.571G= (p.Glu191=) c.*149G= (n.*149G=) c.496G= (p.Glu166=) c.598G= (p.Glu200=) | |
| 15 | g.89211856C>G | CA393729221 | RLBP1 | c.571G>C (p.Glu191Gln) c.*149G>C (n.*149G>C) c.496G>C (p.Glu166Gln) c.598G>C (p.Glu200Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211856C>T | CA393729222 | RLBP1 | c.571G>A (p.Glu191Lys) c.*149G>A (n.*149G>A) c.496G>A (p.Glu166Lys) c.598G>A (p.Glu200Lys) | dbSNP |
| 15 | g.89211857A= | CA2194510382 | RLBP1 | c.570T= (p.Asn190=) c.*148T= (n.*148T=) c.495T= (p.Asn165=) c.597T= (p.Asn199=) | |
| 15 | g.89211857A>C | CA393729223 | RLBP1 | c.570T>G (p.Asn190Lys) c.*148T>G (n.*148T>G) c.495T>G (p.Asn165Lys) c.597T>G (p.Asn199Lys) | |
| 15 | g.89211857A>G | CA492076454 | RLBP1 | c.570T>C (p.Asn190=) c.*148T>C (n.*148T>C) c.495T>C (p.Asn165=) c.597T>C (p.Asn199=) | ClinVar dbSNP |
| 15 | g.89211857A>T | CA393729224 | RLBP1 | c.570T>A (p.Asn190Lys) c.*148T>A (n.*148T>A) c.495T>A (p.Asn165Lys) c.597T>A (p.Asn199Lys) | |
| 15 | g.89211858T>A | CA393729225 | RLBP1 | c.569A>T (p.Asn190Ile) c.*147A>T (n.*147A>T) c.494A>T (p.Asn165Ile) c.596A>T (p.Asn199Ile) | |
| 15 | g.89211858T>C | CA393729226 | RLBP1 | c.569A>G (p.Asn190Ser) c.*147A>G (n.*147A>G) c.494A>G (p.Asn165Ser) c.596A>G (p.Asn199Ser) | |
| 15 | g.89211858T>G | CA393729227 | RLBP1 | c.569A>C (p.Asn190Thr) c.*147A>C (n.*147A>C) c.494A>C (p.Asn165Thr) c.596A>C (p.Asn199Thr) |