Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.89206897_89214258del | CA645509196 | ClinVar | ||
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) |