Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.165419823C>A | CA1220185 | RXRG | c.442+47G>T (n.442+47G>T) n.367+47G>T c.73+47G>T (n.73+47G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.165419823C= | CA1204410101 | RXRG | c.442+47G= (n.442+47G=) n.367+47G= c.73+47G= (n.73+47G=) | |
1 | g.165419823C>T | CA2648887581 | RXRG | c.442+47G>A (n.442+47G>A) n.367+47G>A c.73+47G>A (n.73+47G>A) | gnomAD v4 |
1 | g.165419824C>A | CA2549542540 | RXRG | c.442+46G>T (n.442+46G>T) n.367+46G>T c.73+46G>T (n.73+46G>T) | gnomAD v4 |
1 | g.165419824C>G | CA2574081317 | RXRG | c.442+46G>C (n.442+46G>C) n.367+46G>C c.73+46G>C (n.73+46G>C) | |
1 | g.165419824C>T | CA2648887582 | RXRG | c.442+46G>A (n.442+46G>A) n.367+46G>A c.73+46G>A (n.73+46G>A) | gnomAD v4 |
1 | g.165419825C= | CA1204410102 | RXRG | c.442+45G= (n.442+45G=) n.367+45G= c.73+45G= (n.73+45G=) | |
1 | g.165419825C>G | CA2574081318 | RXRG | c.442+45G>C (n.442+45G>C) n.367+45G>C c.73+45G>C (n.73+45G>C) | |
1 | g.165419825C>T | CA1220186 | RXRG | c.442+45G>A (n.442+45G>A) n.367+45G>A c.73+45G>A (n.73+45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.165419829C>A | CA2648887583 | RXRG | c.442+41G>T (n.442+41G>T) n.367+41G>T c.73+41G>T (n.73+41G>T) | gnomAD v4 |
1 | g.165419829C= | CA1204410103 | RXRG | c.442+41G= (n.442+41G=) n.367+41G= c.73+41G= (n.73+41G=) | |
1 | g.165419829C>T | CA32221223 | RXRG | c.442+41G>A (n.442+41G>A) n.367+41G>A c.73+41G>A (n.73+41G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.165419830T>C | CA2648887584 | RXRG | c.442+40A>G (n.442+40A>G) n.367+40A>G c.73+40A>G (n.73+40A>G) | gnomAD v4 |
1 | g.165419831C>A | CA2697353434 | RXRG | c.442+39G>T (n.442+39G>T) n.367+39G>T c.73+39G>T (n.73+39G>T) | dbSNP |
1 | g.165419832T>G | CA2648887585 | RXRG | c.442+38A>C (n.442+38A>C) n.367+38A>C c.73+38A>C (n.73+38A>C) | gnomAD v4 |
1 | g.165419834_165419835del | CA2574081321 | RXRG | c.442+37_442+38del (n.442+37_442+38del) n.367+37_367+38del c.73+37_73+38del (n.73+37_73+38del) | |
1 | g.165419833G>A | CA2838327680 | RXRG | c.442+37C>T (n.442+37C>T) n.367+37C>T c.73+37C>T (n.73+37C>T) | |
1 | g.165419833G>T | CA2840491539 | RXRG | c.442+37C>A (n.442+37C>A) n.367+37C>A c.73+37C>A (n.73+37C>A) | |
1 | g.165419834T>A | CA2648887586 | RXRG | c.442+36A>T (n.442+36A>T) n.367+36A>T c.73+36A>T (n.73+36A>T) | gnomAD v4 |
1 | g.165419834T>C | CA2648887587 | RXRG | c.442+36A>G (n.442+36A>G) n.367+36A>G c.73+36A>G (n.73+36A>G) | gnomAD v4 |
1 | g.165419835G>A | CA2697353482 | RXRG | c.442+35C>T (n.442+35C>T) n.367+35C>T c.73+35C>T (n.73+35C>T) | dbSNP |
1 | g.165419835G>C | CA2648887589 | RXRG | c.442+35C>G (n.442+35C>G) n.367+35C>G c.73+35C>G (n.73+35C>G) | gnomAD v4 |
1 | g.165419835G>T | CA2648887590 | RXRG | c.442+35C>A (n.442+35C>A) n.367+35C>A c.73+35C>A (n.73+35C>A) | gnomAD v4 |
1 | g.165419836del | CA2648887588 | RXRG | c.442+35del (n.442+35del) n.367+35del c.73+35del (n.73+35del) | gnomAD v4 |
1 | g.165419836G>A | CA2648887591 | RXRG | c.442+34C>T (n.442+34C>T) n.367+34C>T c.73+34C>T (n.73+34C>T) | gnomAD v4 |
1 | g.165419836G>T | CA2648887592 | RXRG | c.442+34C>A (n.442+34C>A) n.367+34C>A c.73+34C>A (n.73+34C>A) | dbSNP gnomAD v4 |
1 | g.165419837C>A | CA2648887593 | RXRG | c.442+33G>T (n.442+33G>T) n.367+33G>T c.73+33G>T (n.73+33G>T) | gnomAD v4 |
1 | g.165419837C= | CA1204410104 | RXRG | c.442+33G= (n.442+33G=) n.367+33G= c.73+33G= (n.73+33G=) | |
1 | g.165419837C>T | CA1220187 | RXRG | c.442+33G>A (n.442+33G>A) n.367+33G>A c.73+33G>A (n.73+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.165419839C>A | CA2648887595 | RXRG | c.442+31G>T (n.442+31G>T) n.367+31G>T c.73+31G>T (n.73+31G>T) | gnomAD v4 |
1 | g.165419839C>T | CA2648887594 | RXRG | c.442+31G>A (n.442+31G>A) n.367+31G>A c.73+31G>A (n.73+31G>A) | gnomAD v4 |
1 | g.165419840T>C | CA1220188 | RXRG | c.442+30A>G (n.442+30A>G) n.367+30A>G c.73+30A>G (n.73+30A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.165419840T= | CA1143523050 | RXRG | c.442+30A= (n.442+30A=) n.367+30A= c.73+30A= (n.73+30A=) | |
1 | g.165419843del | CA2648887596 | RXRG | c.442+30del (n.442+30del) n.367+30del c.73+30del (n.73+30del) | gnomAD v4 |
1 | g.165419843T>C | CA527077813 | RXRG | c.442+27A>G (n.442+27A>G) n.367+27A>G c.73+27A>G (n.73+27A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.165419843T= | CA1204410105 | RXRG | c.442+27A= (n.442+27A=) n.367+27A= c.73+27A= (n.73+27A=) | |
1 | g.165419844C>A | CA2574081324 | RXRG | c.442+26G>T (n.442+26G>T) n.367+26G>T c.73+26G>T (n.73+26G>T) | gnomAD v4 |
1 | g.165419845A= | CA1204410106 | RXRG | c.442+25T= (n.442+25T=) n.367+25T= c.73+25T= (n.73+25T=) | |
1 | g.165419845A>C | CA527077814 | RXRG | c.442+25T>G (n.442+25T>G) n.367+25T>G c.73+25T>G (n.73+25T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.165419845A>G | CA2648887597 | RXRG | c.442+25T>C (n.442+25T>C) n.367+25T>C c.73+25T>C (n.73+25T>C) | gnomAD v4 |
1 | g.165419845A>T | CA2746474906 | RXRG | c.442+25T>A (n.442+25T>A) n.367+25T>A c.73+25T>A (n.73+25T>A) | |
1 | g.165419846G>T | CA2648887598 | RXRG | c.442+24C>A (n.442+24C>A) n.367+24C>A c.73+24C>A (n.73+24C>A) | gnomAD v4 |
1 | g.165419847G>T | CA2648887599 | RXRG | c.442+23C>A (n.442+23C>A) n.367+23C>A c.73+23C>A (n.73+23C>A) | gnomAD v4 |
1 | g.165419848G>A | CA1220189 | RXRG | c.442+22C>T (n.442+22C>T) n.367+22C>T c.73+22C>T (n.73+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.165419848G= | CA1204410107 | RXRG | c.442+22C= (n.442+22C=) n.367+22C= c.73+22C= (n.73+22C=) | |
1 | g.165419848G>T | CA2648887600 | RXRG | c.442+22C>A (n.442+22C>A) n.367+22C>A c.73+22C>A (n.73+22C>A) | gnomAD v4 |
1 | g.165419849del | CA2648887601 | RXRG | c.442+21del (n.442+21del) n.367+21del c.73+21del (n.73+21del) | gnomAD v4 |
1 | g.165419849A>G | CA2648887602 | RXRG | c.442+21T>C (n.442+21T>C) n.367+21T>C c.73+21T>C (n.73+21T>C) | gnomAD v4 |
1 | g.165419850G>T | CA2648887603 | RXRG | c.442+20C>A (n.442+20C>A) n.367+20C>A c.73+20C>A (n.73+20C>A) | gnomAD v4 |
1 | g.165419851T>C | CA2648887605 | RXRG | c.442+19A>G (n.442+19A>G) n.367+19A>G c.73+19A>G (n.73+19A>G) | gnomAD v4 |
1 | g.165419851T>G | CA2648887604 | RXRG | c.442+19A>C (n.442+19A>C) n.367+19A>C c.73+19A>C (n.73+19A>C) | gnomAD v4 |
1 | g.165419852G>T | CA2648887606 | RXRG | c.442+18C>A (n.442+18C>A) n.367+18C>A c.73+18C>A (n.73+18C>A) | gnomAD v4 |
1 | g.165419853T>C | CA32221224 | RXRG | c.442+17A>G (n.442+17A>G) n.367+17A>G c.73+17A>G (n.73+17A>G) | dbSNP gnomAD v4 |
1 | g.165419853T= | CA1143410661 | RXRG | c.442+17A= (n.442+17A=) n.367+17A= c.73+17A= (n.73+17A=) | |
1 | g.165419854C>A | CA527077815 | RXRG | c.442+16G>T (n.442+16G>T) n.367+16G>T c.73+16G>T (n.73+16G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.165419854C= | CA1204410108 | RXRG | c.442+16G= (n.442+16G=) n.367+16G= c.73+16G= (n.73+16G=) | |
1 | g.165419855T>C | CA2648887607 | RXRG | c.442+15A>G (n.442+15A>G) n.367+15A>G c.73+15A>G (n.73+15A>G) | gnomAD v4 |
1 | g.165419856G>A | CA2648887608 | RXRG | c.442+14C>T (n.442+14C>T) n.367+14C>T c.73+14C>T (n.73+14C>T) | gnomAD v4 |
1 | g.165419856G>T | CA2648887609 | RXRG | c.442+14C>A (n.442+14C>A) n.367+14C>A c.73+14C>A (n.73+14C>A) | gnomAD v4 |
1 | g.165419857C>A | CA2648887610 | RXRG | c.442+13G>T (n.442+13G>T) n.367+13G>T c.73+13G>T (n.73+13G>T) | gnomAD v4 |
1 | g.165419858T>C | CA1204410110 | RXRG | c.442+12A>G (n.442+12A>G) n.367+12A>G c.73+12A>G (n.73+12A>G) | dbSNP gnomAD v4 |
1 | g.165419858T= | CA1204410109 | RXRG | c.442+12A= (n.442+12A=) n.367+12A= c.73+12A= (n.73+12A=) | |
1 | g.165419859T>G | CA2574081326 | RXRG | c.442+11A>C (n.442+11A>C) n.367+11A>C c.73+11A>C (n.73+11A>C) | |
1 | g.165419860C>A | CA2746474907 | RXRG | c.442+10G>T (n.442+10G>T) n.367+10G>T c.73+10G>T (n.73+10G>T) | |
1 | g.165419860C>G | CA2746474908 | RXRG | c.442+10G>C (n.442+10G>C) n.367+10G>C c.73+10G>C (n.73+10G>C) | |
1 | g.165419860_165419861delinsCT | CA1204410111 | RXRG | c.442+9_442+10delinsAG (n.442+9_442+10delinsAG) n.367+9_367+10delinsAG c.73+9_73+10delinsAG (n.73+9_73+10delinsAG) | |
1 | g.165419861del | CA1220190 | RXRG | c.442+9del (n.442+9del) n.367+9del c.73+9del (n.73+9del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.165419861T>C | CA2648887611 | RXRG | c.442+9A>G (n.442+9A>G) n.367+9A>G c.73+9A>G (n.73+9A>G) | gnomAD v4 |
1 | g.165419861T>G | CA2648887612 | RXRG | c.442+9A>C (n.442+9A>C) n.367+9A>C c.73+9A>C (n.73+9A>C) | gnomAD v4 |
1 | g.165419862G>A | CA2648887613 | RXRG | c.442+8C>T (n.442+8C>T) n.367+8C>T c.73+8C>T (n.73+8C>T) | gnomAD v4 |
1 | g.165419863del | CA2521812642 | RXRG | c.442+7del (n.442+7del) n.367+7del c.73+7del (n.73+7del) | |
1 | g.165419863C>A | CA2648887614 | RXRG | c.442+7G>T (n.442+7G>T) n.367+7G>T c.73+7G>T (n.73+7G>T) | gnomAD v4 |
1 | g.165419863C>T | CA2648887615 | RXRG | c.442+7G>A (n.442+7G>A) n.367+7G>A c.73+7G>A (n.73+7G>A) | gnomAD v4 |
1 | g.165419864A= | CA1204410112 | RXRG | c.442+6T= (n.442+6T=) n.367+6T= c.73+6T= (n.73+6T=) | |
1 | g.165419864A>C | CA527077816 | RXRG | c.442+6T>G (n.442+6T>G) n.367+6T>G c.73+6T>G (n.73+6T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.165419864A>G | CA1220191 | RXRG | c.442+6T>C (n.442+6T>C) n.367+6T>C c.73+6T>C (n.73+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.165419864A>T | CA2648887616 | RXRG | c.442+6T>A (n.442+6T>A) n.367+6T>A c.73+6T>A (n.73+6T>A) | gnomAD v4 |
1 | g.165419865T>A | CA32221225 | RXRG | c.442+5A>T (n.442+5A>T) n.367+5A>T c.73+5A>T (n.73+5A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.165419865T>C | CA2648887617 | RXRG | c.442+5A>G (n.442+5A>G) n.367+5A>G c.73+5A>G (n.73+5A>G) | gnomAD v4 |
1 | g.165419865T>G | CA527077817 | RXRG | c.442+5A>C (n.442+5A>C) n.367+5A>C c.73+5A>C (n.73+5A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.165419865T= | CA1204410113 | RXRG | c.442+5A= (n.442+5A=) n.367+5A= c.73+5A= (n.73+5A=) | |
1 | g.165419866G>A | CA2648887618 | RXRG | c.442+4C>T (n.442+4C>T) n.367+4C>T c.73+4C>T (n.73+4C>T) | gnomAD v4 |
1 | g.165419866G>T | CA2840491540 | RXRG | c.442+4C>A (n.442+4C>A) n.367+4C>A c.73+4C>A (n.73+4C>A) | |
1 | g.165419867T>C | CA1204410115 | RXRG | c.442+3A>G (n.442+3A>G) n.367+3A>G c.73+3A>G (n.73+3A>G) | dbSNP |
1 | g.165419867T= | CA1204410114 | RXRG | c.442+3A= (n.442+3A=) n.367+3A= c.73+3A= (n.73+3A=) | |
1 | g.165419868A>C | CA343472781 | RXRG | c.442+2T>G (n.442+2T>G) n.367+2T>G c.73+2T>G (n.73+2T>G) | |
1 | g.165419868A>G | CA343472782 | RXRG | c.442+2T>C (n.442+2T>C) n.367+2T>C c.73+2T>C (n.73+2T>C) | |
1 | g.165419868A>T | CA343472783 | RXRG | c.442+2T>A (n.442+2T>A) n.367+2T>A c.73+2T>A (n.73+2T>A) | |
1 | g.165419869C>A | CA343472784 | RXRG | c.442+1G>T (n.442+1G>T) n.367+1G>T c.73+1G>T (n.73+1G>T) | gnomAD v4 |
1 | g.165419869C>G | CA343472785 | RXRG | c.442+1G>C (n.442+1G>C) n.367+1G>C c.73+1G>C (n.73+1G>C) | |
1 | g.165419869C>T | CA343472786 | RXRG | c.442+1G>A (n.442+1G>A) n.367+1G>A c.73+1G>A (n.73+1G>A) | |
1 | g.165419870del | CA2838327683 | RXRG | c.442+1del n.367+1del c.73+1del | |
1 | g.165419870C>A | CA343472787 | RXRG | c.442G>T (p.Gly148Ter) n.367G>T c.73G>T (p.Gly25Ter) | gnomAD v4 |
1 | g.165419870C>G | CA343472788 | RXRG | c.442G>C (p.Gly148Arg) n.367G>C c.73G>C (p.Gly25Arg) | |
1 | g.165419870C>T | CA343472789 | RXRG | c.442G>A (p.Gly148Arg) n.367G>A c.73G>A (p.Gly25Arg) | |
1 | g.165419870_165419871del | CA2648887619 | RXRG | c.441_442del (p.Gly148LysfsTer9) n.366_367del c.72_73del (p.Gly25LysfsTer9) | gnomAD v4 |
1 | g.165419871T>A | CA421567579 | RXRG | c.441A>T (p.Ser147=) n.366A>T c.72A>T (p.Ser24=) | |
1 | g.165419871T>C | CA1220192 | RXRG | c.441A>G (p.Ser147=) n.366A>G c.72A>G (p.Ser24=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.165419871T>G | CA421567580 | RXRG | c.441A>C (p.Ser147=) n.366A>C c.72A>C (p.Ser24=) | gnomAD v4 |
1 | g.165419871T= | CA1204410116 | RXRG | c.441A= (p.Ser147=) n.366A= c.72A= (p.Ser24=) | |
1 | g.165419872G>A | CA343472790 | RXRG | c.440C>T (p.Ser147Leu) n.365C>T c.71C>T (p.Ser24Leu) | |
1 | g.165419872G>C | CA343472791 | RXRG | c.440C>G (p.Ser147Ter) n.365C>G c.71C>G (p.Ser24Ter) | |
1 | g.165419872G>T | CA343472792 | RXRG | c.440C>A (p.Ser147Ter) n.365C>A c.71C>A (p.Ser24Ter) | gnomAD v4 |
1 | g.165419873A>C | CA343472794 | RXRG | c.439T>G (p.Ser147Ala) n.364T>G c.70T>G (p.Ser24Ala) | gnomAD v4 |
1 | g.165419873A>G | CA343472795 | RXRG | c.439T>C (p.Ser147Pro) n.364T>C c.70T>C (p.Ser24Pro) | |
1 | g.165419873A>T | CA343472793 | RXRG | c.439T>A (p.Ser147Thr) n.364T>A c.70T>A (p.Ser24Thr) | |
1 | g.165419874G>A | CA421567581 | RXRG | c.438C>T (p.Ser146=) n.363C>T c.69C>T (p.Ser23=) | gnomAD v4 |
1 | g.165419874G>C | CA421567582 | RXRG | c.438C>G (p.Ser146=) n.363C>G c.69C>G (p.Ser23=) | |
1 | g.165419874G= | CA1204410117 | RXRG | c.438C= (p.Ser146=) n.363C= c.69C= (p.Ser23=) | |
1 | g.165419874G>T | CA1220193 | RXRG | c.438C>A (p.Ser146=) n.363C>A c.69C>A (p.Ser23=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.165419875G>A | CA343472796 | RXRG | c.437C>T (p.Ser146Phe) n.362C>T c.68C>T (p.Ser23Phe) | |
1 | g.165419875G>C | CA343472798 | RXRG | c.437C>G (p.Ser146Cys) n.362C>G c.68C>G (p.Ser23Cys) | |
1 | g.165419875G>T | CA343472797 | RXRG | c.437C>A (p.Ser146Tyr) n.362C>A c.68C>A (p.Ser23Tyr) | |
1 | g.165419876A>C | CA343472799 | RXRG | c.436T>G (p.Ser146Ala) n.361T>G c.67T>G (p.Ser23Ala) | gnomAD v4 |
1 | g.165419876A>G | CA343472801 | RXRG | c.436T>C (p.Ser146Pro) n.361T>C c.67T>C (p.Ser23Pro) | |
1 | g.165419876A>T | CA343472800 | RXRG | c.436T>A (p.Ser146Thr) n.361T>A c.67T>A (p.Ser23Thr) | |
1 | g.165419877T>A | CA343472802 | RXRG | c.435A>T (p.Arg145Ser) n.360A>T c.66A>T (p.Arg22Ser) | |
1 | g.165419877T>C | CA1220194 | RXRG | c.435A>G (p.Arg145=) n.360A>G c.66A>G (p.Arg22=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.165419877T>G | CA343472803 | RXRG | c.435A>C (p.Arg145Ser) n.360A>C c.66A>C (p.Arg22Ser) | |
1 | g.165419877T= | CA1204410118 | RXRG | c.435A= (p.Arg145=) n.360A= c.66A= (p.Arg22=) | |
1 | g.165419878C>A | CA343472804 | RXRG | c.434G>T (p.Arg145Ile) n.359G>T c.65G>T (p.Arg22Ile) | gnomAD v4 |
1 | g.165419878C>G | CA343472805 | RXRG | c.434G>C (p.Arg145Thr) n.359G>C c.65G>C (p.Arg22Thr) | |
1 | g.165419878C>T | CA343472806 | RXRG | c.434G>A (p.Arg145Lys) n.359G>A c.65G>A (p.Arg22Lys) | |
1 | g.165419879T>A | CA343472807 | RXRG | c.433A>T (p.Arg145Ter) n.358A>T c.64A>T (p.Arg22Ter) | |
1 | g.165419879T>C | CA343472808 | RXRG | c.433A>G (p.Arg145Gly) n.358A>G c.64A>G (p.Arg22Gly) | gnomAD v4 |
1 | g.165419879T>G | CA421567584 | RXRG | c.433A>C (p.Arg145=) n.358A>C c.64A>C (p.Arg22=) | |
1 | g.165419880G>A | CA421567585 | RXRG | c.432C>T (p.Asp144=) n.357C>T c.63C>T (p.Asp21=) | |
1 | g.165419880G>C | CA343472809 | RXRG | c.432C>G (p.Asp144Glu) n.357C>G c.63C>G (p.Asp21Glu) | |
1 | g.165419880G>T | CA343472810 | RXRG | c.432C>A (p.Asp144Glu) n.357C>A c.63C>A (p.Asp21Glu) | |
1 | g.165419881T>A | CA343472813 | RXRG | c.431A>T (p.Asp144Val) n.356A>T c.62A>T (p.Asp21Val) | |
1 | g.165419881T>C | CA343472812 | RXRG | c.431A>G (p.Asp144Gly) n.356A>G c.62A>G (p.Asp21Gly) | dbSNP |
1 | g.165419881T>G | CA343472811 | RXRG | c.431A>C (p.Asp144Ala) n.356A>C c.62A>C (p.Asp21Ala) | |
1 | g.165419881T= | CA1204410119 | RXRG | c.431A= (p.Asp144=) n.356A= c.62A= (p.Asp21=) | |
1 | g.165419882C>A | CA343472814 | RXRG | c.430G>T (p.Asp144Tyr) n.355G>T c.61G>T (p.Asp21Tyr) | |
1 | g.165419882C>G | CA343472815 | RXRG | c.430G>C (p.Asp144His) n.355G>C c.61G>C (p.Asp21His) | |
1 | g.165419882C>T | CA343472816 | RXRG | c.430G>A (p.Asp144Asn) n.355G>A c.61G>A (p.Asp21Asn) | |
1 | g.165419883T>A | CA421567586 | RXRG | c.429A>T (p.Gly143=) n.354A>T c.60A>T (p.Gly20=) | |
1 | g.165419883T>C | CA421567587 | RXRG | c.429A>G (p.Gly143=) n.354A>G c.60A>G (p.Gly20=) | |
1 | g.165419883T>G | CA421567588 | RXRG | c.429A>C (p.Gly143=) n.354A>C c.60A>C (p.Gly20=) | |
1 | g.165419884C>A | CA343472817 | RXRG | c.428G>T (p.Gly143Val) n.353G>T c.59G>T (p.Gly20Val) | gnomAD v4 |
1 | g.165419884C>G | CA343472818 | RXRG | c.428G>C (p.Gly143Ala) n.353G>C c.59G>C (p.Gly20Ala) | |
1 | g.165419884C>T | CA343472819 | RXRG | c.428G>A (p.Gly143Glu) n.353G>A c.59G>A (p.Gly20Glu) | |
1 | g.165419885del | CA2648887620 | RXRG | c.428del (p.Gly143GlufsTer25) n.353del c.59del (p.Gly20GlufsTer25) | gnomAD v4 |
1 | g.165419885C>A | CA343472820 | RXRG | c.427G>T (p.Gly143Ter) n.352G>T c.58G>T (p.Gly20Ter) | |
1 | g.165419885C= | CA1204410120 | RXRG | c.427G= (p.Gly143=) n.352G= c.58G= (p.Gly20=) | |
1 | g.165419885C>G | CA343472821 | RXRG | c.427G>C (p.Gly143Arg) n.352G>C c.58G>C (p.Gly20Arg) | |
1 | g.165419885C>T | CA343472822 | RXRG | c.427G>A (p.Gly143Arg) n.352G>A c.58G>A (p.Gly20Arg) | dbSNP |
1 | g.165419887_165419888del | CA645538635 | RXRG | c.426_427del (p.Cys142TrpfsTer15) n.351_352del c.57_58del (p.Cys19TrpfsTer15) | COSMIC |
1 | g.165419886A>C | CA343472823 | RXRG | c.426T>G (p.Cys142Trp) n.351T>G c.57T>G (p.Cys19Trp) | |
1 | g.165419886A>G | CA421567589 | RXRG | c.426T>C (p.Cys142=) n.351T>C c.57T>C (p.Cys19=) | |
1 | g.165419886A>T | CA343472824 | RXRG | c.426T>A (p.Cys142Ter) n.351T>A c.57T>A (p.Cys19Ter) | |
1 | g.165419887C>A | CA343472827 | RXRG | c.425G>T (p.Cys142Phe) n.350G>T c.56G>T (p.Cys19Phe) | |
1 | g.165419887C>G | CA343472826 | RXRG | c.425G>C (p.Cys142Ser) n.350G>C c.56G>C (p.Cys19Ser) | |
1 | g.165419887C>T | CA343472825 | RXRG | c.425G>A (p.Cys142Tyr) n.350G>A c.56G>A (p.Cys19Tyr) | |
1 | g.165419888A>C | CA343472828 | RXRG | c.424T>G (p.Cys142Gly) n.349T>G c.55T>G (p.Cys19Gly) | |
1 | g.165419888A>G | CA343472829 | RXRG | c.424T>C (p.Cys142Arg) n.349T>C c.55T>C (p.Cys19Arg) | |
1 | g.165419888A>T | CA343472830 | RXRG | c.424T>A (p.Cys142Ser) n.349T>A c.55T>A (p.Cys19Ser) | |
1 | g.165419889G>A | CA421567590 | RXRG | c.423C>T (p.Ile141=) n.348C>T c.54C>T (p.Ile18=) | |
1 | g.165419889G>C | CA343472831 | RXRG | c.423C>G (p.Ile141Met) n.348C>G c.54C>G (p.Ile18Met) | |
1 | g.165419889G>T | CA421567591 | RXRG | c.423C>A (p.Ile141=) n.348C>A c.54C>A (p.Ile18=) | gnomAD v4 |
1 | g.165419890A>C | CA343472832 | RXRG | c.422T>G (p.Ile141Ser) n.347T>G c.53T>G (p.Ile18Ser) | |
1 | g.165419890A>G | CA343472833 | RXRG | c.422T>C (p.Ile141Thr) n.347T>C c.53T>C (p.Ile18Thr) | gnomAD v4 |
1 | g.165419890A>T | CA343472834 | RXRG | c.422T>A (p.Ile141Asn) n.347T>A c.53T>A (p.Ile18Asn) | |
1 | g.165419891T>A | CA343472835 | RXRG | c.421A>T (p.Ile141Phe) n.346A>T c.52A>T (p.Ile18Phe) | |
1 | g.165419891T>C | CA343472836 | RXRG | c.421A>G (p.Ile141Val) n.346A>G c.52A>G (p.Ile18Val) | |
1 | g.165419891T>G | CA343472837 | RXRG | c.421A>C (p.Ile141Leu) n.346A>C c.52A>C (p.Ile18Leu) | |
1 | g.165419892G>A | CA1220195 | RXRG | c.420C>T (p.Ala140=) n.345C>T c.51C>T (p.Ala17=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.165419892G>C | CA421567592 | RXRG | c.420C>G (p.Ala140=) n.345C>G c.51C>G (p.Ala17=) | |
1 | g.165419892G= | CA1139853394 | RXRG | c.420C= (p.Ala140=) n.345C= c.51C= (p.Ala17=) | |
1 | g.165419892G>T | CA421567593 | RXRG | c.420C>A (p.Ala140=) n.345C>A c.51C>A (p.Ala17=) | gnomAD v4 |
1 | g.165419893G>A | CA343472840 | RXRG | c.419C>T (p.Ala140Val) n.344C>T c.50C>T (p.Ala17Val) | gnomAD v4 |
1 | g.165419893G>C | CA343472839 | RXRG | c.419C>G (p.Ala140Gly) n.344C>G c.50C>G (p.Ala17Gly) | |
1 | g.165419893G>T | CA343472838 | RXRG | c.419C>A (p.Ala140Asp) n.344C>A c.50C>A (p.Ala17Asp) | |
1 | g.165419893_165419894del | CA2648887621 | RXRG | c.418_419del (p.Ala140HisfsTer17) n.343_344del c.49_50del (p.Ala17HisfsTer17) | gnomAD v4 |
1 | g.165419894C>A | CA343472841 | RXRG | c.418G>T (p.Ala140Ser) n.343G>T c.49G>T (p.Ala17Ser) | gnomAD v4 |
1 | g.165419894C= | CA1204410121 | RXRG | c.418G= (p.Ala140=) n.343G= c.49G= (p.Ala17=) | |
1 | g.165419894C>G | CA343472842 | RXRG | c.418G>C (p.Ala140Pro) n.343G>C c.49G>C (p.Ala17Pro) | |
1 | g.165419894C>T | CA1220196 | RXRG | c.418G>A (p.Ala140Thr) n.343G>A c.49G>A (p.Ala17Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.165419895A>C | CA343472843 | RXRG | c.417T>G (p.Cys139Trp) n.342T>G c.48T>G (p.Cys16Trp) | |
1 | g.165419895A>G | CA421567594 | RXRG | c.417T>C (p.Cys139=) n.342T>C c.48T>C (p.Cys16=) | |
1 | g.165419895A>T | CA343472844 | RXRG | c.417T>A (p.Cys139Ter) n.342T>A c.48T>A (p.Cys16Ter) | |
1 | g.165419896C>A | CA343472845 | RXRG | c.416G>T (p.Cys139Phe) n.341G>T c.47G>T (p.Cys16Phe) | |
1 | g.165419896C>G | CA343472846 | RXRG | c.416G>C (p.Cys139Ser) n.341G>C c.47G>C (p.Cys16Ser) | |
1 | g.165419896C>T | CA343472847 | RXRG | c.416G>A (p.Cys139Tyr) n.341G>A c.47G>A (p.Cys16Tyr) | |
1 | g.165419897A>C | CA343472848 | RXRG | c.415T>G (p.Cys139Gly) n.340T>G c.46T>G (p.Cys16Gly) | |
1 | g.165419897A>G | CA343472849 | RXRG | c.415T>C (p.Cys139Arg) n.340T>C c.46T>C (p.Cys16Arg) | |
1 | g.165419897A>T | CA343472850 | RXRG | c.415T>A (p.Cys139Ser) n.340T>A c.46T>A (p.Cys16Ser) | |
1 | g.165419898G>A | CA421567596 | RXRG | c.414C>T (p.Ile138=) n.339C>T c.45C>T (p.Ile15=) | |
1 | g.165419898G>C | CA343472851 | RXRG | c.414C>G (p.Ile138Met) n.339C>G c.45C>G (p.Ile15Met) | |
1 | g.165419898G>T | CA421567595 | RXRG | c.414C>A (p.Ile138=) n.339C>A c.45C>A (p.Ile15=) | |
1 | g.165419899A= | CA1204410122 | RXRG | c.413T= (p.Ile138=) n.338T= c.44T= (p.Ile15=) | |
1 | g.165419899A>C | CA343472853 | RXRG | c.413T>G (p.Ile138Ser) n.338T>G c.44T>G (p.Ile15Ser) | |
1 | g.165419899A>G | CA343472854 | RXRG | c.413T>C (p.Ile138Thr) n.338T>C c.44T>C (p.Ile15Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.165419899A>T | CA343472852 | RXRG | c.413T>A (p.Ile138Asn) n.338T>A c.44T>A (p.Ile15Asn) | gnomAD v4 |
1 | g.165419900T>A | CA343472857 | RXRG | c.412A>T (p.Ile138Phe) n.337A>T c.43A>T (p.Ile15Phe) | gnomAD v4 |
1 | g.165419900T>C | CA343472855 | RXRG | c.412A>G (p.Ile138Val) n.337A>G c.43A>G (p.Ile15Val) | |
1 | g.165419900T>G | CA343472856 | RXRG | c.412A>C (p.Ile138Leu) n.337A>C c.43A>C (p.Ile15Leu) | |
1 | g.165419901G>A | CA421567597 | RXRG | c.411C>T (p.His137=) n.336C>T c.42C>T (p.His14=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.165419901G>C | CA343472858 | RXRG | c.411C>G (p.His137Gln) n.336C>G c.42C>G (p.His14Gln) | |
1 | g.165419901G= | CA1204410123 | RXRG | c.411C= (p.His137=) n.336C= c.42C= (p.His14=) | |
1 | g.165419901G>T | CA343472859 | RXRG | c.411C>A (p.His137Gln) n.336C>A c.42C>A (p.His14Gln) | |
1 | g.165419902T>A | CA343472860 | RXRG | c.410A>T (p.His137Leu) n.335A>T c.41A>T (p.His14Leu) | |
1 | g.165419902T>C | CA343472861 | RXRG | c.410A>G (p.His137Arg) n.335A>G c.41A>G (p.His14Arg) | |
1 | g.165419902T>G | CA32221226 | RXRG | c.410A>C (p.His137Pro) n.335A>C c.41A>C (p.His14Pro) | dbSNP |
1 | g.165419902T= | CA1204410124 | RXRG | c.410A= (p.His137=) n.335A= c.41A= (p.His14=) | |
1 | g.165419903G>A | CA343472862 | RXRG | c.409C>T (p.His137Tyr) n.334C>T c.40C>T (p.His14Tyr) | |
1 | g.165419903G>C | CA343472863 | RXRG | c.409C>G (p.His137Asp) n.334C>G c.40C>G (p.His14Asp) | |
1 | g.165419903G>T | CA343472864 | RXRG | c.409C>A (p.His137Asn) n.334C>A c.40C>A (p.His14Asn) | |
1 | g.165419904T>A | CA343472865 | RXRG | c.408A>T (p.Lys136Asn) n.333A>T c.39A>T (p.Lys13Asn) | COSMIC |
1 | g.165419904T>C | CA421567598 | RXRG | c.408A>G (p.Lys136=) n.333A>G c.39A>G (p.Lys13=) | |
1 | g.165419904T>G | CA343472866 | RXRG | c.408A>C (p.Lys136Asn) n.333A>C c.39A>C (p.Lys13Asn) | |
1 | g.165419905T>A | CA343472868 | RXRG | c.407A>T (p.Lys136Ile) n.332A>T c.38A>T (p.Lys13Ile) | |
1 | g.165419905T>C | CA343472869 | RXRG | c.407A>G (p.Lys136Arg) n.332A>G c.38A>G (p.Lys13Arg) | gnomAD v4 |
1 | g.165419905T>G | CA343472867 | RXRG | c.407A>C (p.Lys136Thr) n.332A>C c.38A>C (p.Lys13Thr) | |
1 | g.165419906T>A | CA343472870 | RXRG | c.406A>T (p.Lys136Ter) n.331A>T c.37A>T (p.Lys13Ter) | |
1 | g.165419906T>C | CA343472871 | RXRG | c.406A>G (p.Lys136Glu) n.331A>G c.37A>G (p.Lys13Glu) | |
1 | g.165419906T>G | CA343472872 | RXRG | c.406A>C (p.Lys136Gln) n.331A>C c.37A>C (p.Lys13Gln) | |
1 | g.165419907A>C | CA421567599 | RXRG | c.405T>G (p.Val135=) n.330T>G c.36T>G (p.Val12=) | |
1 | g.165419907A>G | CA421567600 | RXRG | c.405T>C (p.Val135=) n.330T>C c.36T>C (p.Val12=) | |
1 | g.165419907A>T | CA421567601 | RXRG | c.405T>A (p.Val135=) n.330T>A c.36T>A (p.Val12=) | |
1 | g.165419908A>C | CA343472873 | RXRG | c.404T>G (p.Val135Gly) n.329T>G c.35T>G (p.Val12Gly) | |
1 | g.165419908A>G | CA343472874 | RXRG | c.404T>C (p.Val135Ala) n.329T>C c.35T>C (p.Val12Ala) | |
1 | g.165419908A>T | CA343472875 | RXRG | c.404T>A (p.Val135Asp) n.329T>A c.35T>A (p.Val12Asp) | |
1 | g.165419909C>A | CA343472876 | RXRG | c.403G>T (p.Val135Phe) n.328G>T c.34G>T (p.Val12Phe) | ClinVar |
1 | g.165419909C>G | CA343472878 | RXRG | c.403G>C (p.Val135Leu) n.328G>C c.34G>C (p.Val12Leu) | |
1 | g.165419909C>T | CA343472877 | RXRG | c.403G>A (p.Val135Ile) n.328G>A c.34G>A (p.Val12Ile) | |
1 | g.165419910C>A | CA421567602 | RXRG | c.402G>T (p.Leu134=) n.327G>T c.33G>T (p.Leu11=) | |
1 | g.165419910C>G | CA421567603 | RXRG | c.402G>C (p.Leu134=) n.327G>C c.33G>C (p.Leu11=) | |
1 | g.165419910C>T | CA421567604 | RXRG | c.402G>A (p.Leu134=) n.327G>A c.33G>A (p.Leu11=) | |
1 | g.165419911A>C | CA343472879 | RXRG | c.401T>G (p.Leu134Arg) n.326T>G c.32T>G (p.Leu11Arg) | gnomAD v4 |
1 | g.165419911A>G | CA343472880 | RXRG | c.401T>C (p.Leu134Pro) n.326T>C c.32T>C (p.Leu11Pro) | |
1 | g.165419911A>T | CA343472881 | RXRG | c.401T>A (p.Leu134Gln) n.326T>A c.32T>A (p.Leu11Gln) | |
1 | g.165419911dup | CA2840491541 | RXRG | c.401dup (p.Val135GlyfsTer2) n.326dup c.32dup (p.Val12GlyfsTer2) | |
1 | g.165419912G>A | CA421567605 | RXRG | c.400C>T (p.Leu134=) n.325C>T c.31C>T (p.Leu11=) | |
1 | g.165419912G>C | CA343472882 | RXRG | c.400C>G (p.Leu134Val) n.325C>G c.31C>G (p.Leu11Val) | |
1 | g.165419912G>T | CA343472883 | RXRG | c.400C>A (p.Leu134Met) n.325C>A c.31C>A (p.Leu11Met) | |
1 | g.165419913A= | CA1145509703 | RXRG | c.399T= (p.Ser133=) n.324T= c.30T= (p.Ser10=) | |
1 | g.165419913A>C | CA421567606 | RXRG | c.399T>G (p.Ser133=) n.324T>G c.30T>G (p.Ser10=) | |
1 | g.165419913A>G | CA421567607 | RXRG | c.399T>C (p.Ser133=) n.324T>C c.30T>C (p.Ser10=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.165419913A>T | CA32221227 | RXRG | c.399T>A (p.Ser133=) n.324T>A c.30T>A (p.Ser10=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.165419913_165419915del | CA645538636 | RXRG | c.397_399del (p.Ser133del) n.322_324del c.28_30del (p.Ser10del) | COSMIC |
1 | g.165419914G>A | CA343472884 | RXRG | c.398C>T (p.Ser133Phe) n.323C>T c.29C>T (p.Ser10Phe) | |
1 | g.165419914G>C | CA1220198 | RXRG | c.398C>G (p.Ser133Cys) n.323C>G c.29C>G (p.Ser10Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.165419914G= | CA1204410125 | RXRG | c.398C= (p.Ser133=) n.323C= c.29C= (p.Ser10=) | |
1 | g.165419914G>T | CA1220197 | RXRG | c.398C>A (p.Ser133Tyr) n.323C>A c.29C>A (p.Ser10Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.165419915A>C | CA343472885 | RXRG | c.397T>G (p.Ser133Ala) n.322T>G c.28T>G (p.Ser10Ala) | |
1 | g.165419915A>G | CA343472886 | RXRG | c.397T>C (p.Ser133Pro) n.322T>C c.28T>C (p.Ser10Pro) | gnomAD v4 |
1 | g.165419915A>T | CA343472887 | RXRG | c.397T>A (p.Ser133Thr) n.322T>A c.28T>A (p.Ser10Thr) | |
1 | g.165419916T>A | CA421567608 | RXRG | c.396A>T (p.Gly132=) n.321A>T c.27A>T (p.Gly9=) | |
1 | g.165419916T>C | CA421567609 | RXRG | c.396A>G (p.Gly132=) n.321A>G c.27A>G (p.Gly9=) | |
1 | g.165419916T>G | CA421567610 | RXRG | c.396A>C (p.Gly132=) n.321A>C c.27A>C (p.Gly9=) | |
1 | g.165419917C>A | CA343472888 | RXRG | c.395G>T (p.Gly132Val) n.320G>T c.26G>T (p.Gly9Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.165419917C= | CA1204410126 | RXRG | c.395G= (p.Gly132=) n.320G= c.26G= (p.Gly9=) | |
1 | g.165419917C>G | CA343472889 | RXRG | c.395G>C (p.Gly132Ala) n.320G>C c.26G>C (p.Gly9Ala) | |
1 | g.165419917C>T | CA343472890 | RXRG | c.395G>A (p.Gly132Glu) n.320G>A c.26G>A (p.Gly9Glu) | dbSNP |
1 | g.165419918C>A | CA343472891 | RXRG | c.394G>T (p.Gly132Ter) n.319G>T c.25G>T (p.Gly9Ter) | |
1 | g.165419918C= | CA1143431634 | RXRG | c.394G= (p.Gly132=) n.319G= c.25G= (p.Gly9=) | |
1 | g.165419918C>G | CA343472892 | RXRG | c.394G>C (p.Gly132Arg) n.319G>C c.25G>C (p.Gly9Arg) | |
1 | g.165419918C>T | CA1220199 | RXRG | c.394G>A (p.Gly132Arg) n.319G>A c.25G>A (p.Gly9Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.165419919G>A | CA1220200 | RXRG | c.393C>T (p.Pro131=) n.318C>T c.24C>T (p.Pro8=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.165419919G>C | CA421567612 | RXRG | c.393C>G (p.Pro131=) n.318C>G c.24C>G (p.Pro8=) | gnomAD v4 |
1 | g.165419919G= | CA1144406252 | RXRG | c.393C= (p.Pro131=) n.318C= c.24C= (p.Pro8=) | |
1 | g.165419919G>T | CA421567611 | RXRG | c.393C>A (p.Pro131=) n.318C>A c.24C>A (p.Pro8=) | |
1 | g.165419920G>A | CA343472894 | RXRG | c.392C>T (p.Pro131Leu) n.317C>T c.23C>T (p.Pro8Leu) | |
1 | g.165419920G>C | CA343472895 | RXRG | c.392C>G (p.Pro131Arg) n.317C>G c.23C>G (p.Pro8Arg) | |
1 | g.165419920G>T | CA343472893 | RXRG | c.392C>A (p.Pro131His) n.317C>A c.23C>A (p.Pro8His) | |
1 | g.165419921G>A | CA1220201 | RXRG | c.391C>T (p.Pro131Ser) n.316C>T c.22C>T (p.Pro8Ser) | dbSNP ExAC gnomAD v2 |
1 | g.165419921G>C | CA343472896 | RXRG | c.391C>G (p.Pro131Ala) n.316C>G c.22C>G (p.Pro8Ala) | |
1 | g.165419921G= | CA1204410127 | RXRG | c.391C= (p.Pro131=) n.316C= c.22C= (p.Pro8=) | |
1 | g.165419921G>T | CA343472897 | RXRG | c.391C>A (p.Pro131Thr) n.316C>A c.22C>A (p.Pro8Thr) | |
1 | g.165419922G>A | CA421567614 | RXRG | c.390C>T (p.Ser130=) n.315C>T c.21C>T (p.Ser7=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.165419922G>C | CA343472898 | RXRG | c.390C>G (p.Ser130Arg) n.315C>G c.21C>G (p.Ser7Arg) | |
1 | g.165419922G= | CA1204410128 | RXRG | c.390C= (p.Ser130=) n.315C= c.21C= (p.Ser7=) | |
1 | g.165419922G>T | CA343472899 | RXRG | c.390C>A (p.Ser130Arg) n.315C>A c.21C>A (p.Ser7Arg) | dbSNP gnomAD v4 |
1 | g.165419923C>A | CA343472902 | RXRG | c.389G>T (p.Ser130Ile) n.314G>T c.20G>T (p.Ser7Ile) | |
1 | g.165419923C>G | CA343472900 | RXRG | c.389G>C (p.Ser130Thr) n.314G>C c.20G>C (p.Ser7Thr) | |
1 | g.165419923C>T | CA343472901 | RXRG | c.389G>A (p.Ser130Asn) n.314G>A c.20G>A (p.Ser7Asn) |