Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.165419863delCA2521812642RXRGc.442+7del (n.442+7del)
n.367+7del
c.73+7del (n.73+7del)
1g.165419863C>ACA2648887614RXRGc.442+7G>T (n.442+7G>T)
n.367+7G>T
c.73+7G>T (n.73+7G>T)
gnomAD v4
1g.165419863C>TCA2648887615RXRGc.442+7G>A (n.442+7G>A)
n.367+7G>A
c.73+7G>A (n.73+7G>A)
gnomAD v4
1g.165419864A=CA1204410112RXRGc.442+6T= (n.442+6T=)
n.367+6T=
c.73+6T= (n.73+6T=)
1g.165419864A>CCA527077816RXRGc.442+6T>G (n.442+6T>G)
n.367+6T>G
c.73+6T>G (n.73+6T>G)
dbSNP gnomAD v2 gnomAD v4
1g.165419864A>GCA1220191RXRGc.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
1g.165419864A>TCA2648887616RXRGc.442+6T>A (n.442+6T>A)
n.367+6T>A
c.73+6T>A (n.73+6T>A)
gnomAD v4
1g.165419865T>ACA32221225RXRGc.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
1g.165419865T>CCA2648887617RXRGc.442+5A>G (n.442+5A>G)
n.367+5A>G
c.73+5A>G (n.73+5A>G)
gnomAD v4
1g.165419865T>GCA527077817RXRGc.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
1g.165419865T=CA1204410113RXRGc.442+5A= (n.442+5A=)
n.367+5A=
c.73+5A= (n.73+5A=)
1g.165419866G>ACA2648887618RXRGc.442+4C>T (n.442+4C>T)
n.367+4C>T
c.73+4C>T (n.73+4C>T)
gnomAD v4
1g.165419867T>CCA1204410115RXRGc.442+3A>G (n.442+3A>G)
n.367+3A>G
c.73+3A>G (n.73+3A>G)
dbSNP
1g.165419867T=CA1204410114RXRGc.442+3A= (n.442+3A=)
n.367+3A=
c.73+3A= (n.73+3A=)
1g.165419868A>CCA343472781RXRGc.442+2T>G (n.442+2T>G)
n.367+2T>G
c.73+2T>G (n.73+2T>G)
1g.165419868A>GCA343472782RXRGc.442+2T>C (n.442+2T>C)
n.367+2T>C
c.73+2T>C (n.73+2T>C)
1g.165419868A>TCA343472783RXRGc.442+2T>A (n.442+2T>A)
n.367+2T>A
c.73+2T>A (n.73+2T>A)
1g.165419869C>ACA343472784RXRGc.442+1G>T (n.442+1G>T)
n.367+1G>T
c.73+1G>T (n.73+1G>T)
gnomAD v4
1g.165419869C>GCA343472785RXRGc.442+1G>C (n.442+1G>C)
n.367+1G>C
c.73+1G>C (n.73+1G>C)
1g.165419869C>TCA343472786RXRGc.442+1G>A (n.442+1G>A)
n.367+1G>A
c.73+1G>A (n.73+1G>A)
1g.165419870C>ACA343472787RXRGc.442G>T (p.Gly148Ter)
n.367G>T
c.73G>T (p.Gly25Ter)
gnomAD v4
1g.165419870C>GCA343472788RXRGc.442G>C (p.Gly148Arg)
n.367G>C
c.73G>C (p.Gly25Arg)
1g.165419870C>TCA343472789RXRGc.442G>A (p.Gly148Arg)
n.367G>A
c.73G>A (p.Gly25Arg)
1g.165419870_165419871delCA2648887619RXRGc.441_442del (p.Gly148LysfsTer9)
n.366_367del
c.72_73del (p.Gly25LysfsTer9)
gnomAD v4
1g.165419871T>ACA421567579RXRGc.441A>T (p.Ser147=)
n.366A>T
c.72A>T (p.Ser24=)
1g.165419871T>CCA1220192RXRGc.441A>G (p.Ser147=)
n.366A>G
c.72A>G (p.Ser24=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.165419871T>GCA421567580RXRGc.441A>C (p.Ser147=)
n.366A>C
c.72A>C (p.Ser24=)
gnomAD v4
1g.165419871T=CA1204410116RXRGc.441A= (p.Ser147=)
n.366A=
c.72A= (p.Ser24=)
1g.165419872G>ACA343472790RXRGc.440C>T (p.Ser147Leu)
n.365C>T
c.71C>T (p.Ser24Leu)
1g.165419872G>CCA343472791RXRGc.440C>G (p.Ser147Ter)
n.365C>G
c.71C>G (p.Ser24Ter)
1g.165419872G>TCA343472792RXRGc.440C>A (p.Ser147Ter)
n.365C>A
c.71C>A (p.Ser24Ter)
gnomAD v4
1g.165419873A>CCA343472794RXRGc.439T>G (p.Ser147Ala)
n.364T>G
c.70T>G (p.Ser24Ala)
gnomAD v4
1g.165419873A>GCA343472795RXRGc.439T>C (p.Ser147Pro)
n.364T>C
c.70T>C (p.Ser24Pro)
1g.165419873A>TCA343472793RXRGc.439T>A (p.Ser147Thr)
n.364T>A
c.70T>A (p.Ser24Thr)
1g.165419874G>ACA421567581RXRGc.438C>T (p.Ser146=)
n.363C>T
c.69C>T (p.Ser23=)
gnomAD v4
1g.165419874G>CCA421567582RXRGc.438C>G (p.Ser146=)
n.363C>G
c.69C>G (p.Ser23=)
1g.165419874G=CA1204410117RXRGc.438C= (p.Ser146=)
n.363C=
c.69C= (p.Ser23=)
1g.165419874G>TCA1220193RXRGc.438C>A (p.Ser146=)
n.363C>A
c.69C>A (p.Ser23=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.165419875G>ACA343472796RXRGc.437C>T (p.Ser146Phe)
n.362C>T
c.68C>T (p.Ser23Phe)
1g.165419875G>CCA343472798RXRGc.437C>G (p.Ser146Cys)
n.362C>G
c.68C>G (p.Ser23Cys)
1g.165419875G>TCA343472797RXRGc.437C>A (p.Ser146Tyr)
n.362C>A
c.68C>A (p.Ser23Tyr)
1g.165419876A>CCA343472799RXRGc.436T>G (p.Ser146Ala)
n.361T>G
c.67T>G (p.Ser23Ala)
gnomAD v4
1g.165419876A>GCA343472801RXRGc.436T>C (p.Ser146Pro)
n.361T>C
c.67T>C (p.Ser23Pro)
1g.165419876A>TCA343472800RXRGc.436T>A (p.Ser146Thr)
n.361T>A
c.67T>A (p.Ser23Thr)
1g.165419877T>ACA343472802RXRGc.435A>T (p.Arg145Ser)
n.360A>T
c.66A>T (p.Arg22Ser)
1g.165419877T>CCA1220194RXRGc.435A>G (p.Arg145=)
n.360A>G
c.66A>G (p.Arg22=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.165419877T>GCA343472803RXRGc.435A>C (p.Arg145Ser)
n.360A>C
c.66A>C (p.Arg22Ser)
1g.165419877T=CA1204410118RXRGc.435A= (p.Arg145=)
n.360A=
c.66A= (p.Arg22=)
1g.165419878C>ACA343472804RXRGc.434G>T (p.Arg145Ile)
n.359G>T
c.65G>T (p.Arg22Ile)
gnomAD v4
1g.165419878C>GCA343472805RXRGc.434G>C (p.Arg145Thr)
n.359G>C
c.65G>C (p.Arg22Thr)
1g.165419878C>TCA343472806RXRGc.434G>A (p.Arg145Lys)
n.359G>A
c.65G>A (p.Arg22Lys)
1g.165419879T>ACA343472807RXRGc.433A>T (p.Arg145Ter)
n.358A>T
c.64A>T (p.Arg22Ter)
1g.165419879T>CCA343472808RXRGc.433A>G (p.Arg145Gly)
n.358A>G
c.64A>G (p.Arg22Gly)
gnomAD v4
1g.165419879T>GCA421567584RXRGc.433A>C (p.Arg145=)
n.358A>C
c.64A>C (p.Arg22=)
1g.165419880G>ACA421567585RXRGc.432C>T (p.Asp144=)
n.357C>T
c.63C>T (p.Asp21=)
1g.165419880G>CCA343472809RXRGc.432C>G (p.Asp144Glu)
n.357C>G
c.63C>G (p.Asp21Glu)
1g.165419880G>TCA343472810RXRGc.432C>A (p.Asp144Glu)
n.357C>A
c.63C>A (p.Asp21Glu)
1g.165419881T>ACA343472813RXRGc.431A>T (p.Asp144Val)
n.356A>T
c.62A>T (p.Asp21Val)
1g.165419881T>CCA343472812RXRGc.431A>G (p.Asp144Gly)
n.356A>G
c.62A>G (p.Asp21Gly)
dbSNP
1g.165419881T>GCA343472811RXRGc.431A>C (p.Asp144Ala)
n.356A>C
c.62A>C (p.Asp21Ala)
1g.165419881T=CA1204410119RXRGc.431A= (p.Asp144=)
n.356A=
c.62A= (p.Asp21=)
1g.165419882C>ACA343472814RXRGc.430G>T (p.Asp144Tyr)
n.355G>T
c.61G>T (p.Asp21Tyr)
1g.165419882C>GCA343472815RXRGc.430G>C (p.Asp144His)
n.355G>C
c.61G>C (p.Asp21His)
1g.165419882C>TCA343472816RXRGc.430G>A (p.Asp144Asn)
n.355G>A
c.61G>A (p.Asp21Asn)
1g.165419883T>ACA421567586RXRGc.429A>T (p.Gly143=)
n.354A>T
c.60A>T (p.Gly20=)
1g.165419883T>CCA421567587RXRGc.429A>G (p.Gly143=)
n.354A>G
c.60A>G (p.Gly20=)
1g.165419883T>GCA421567588RXRGc.429A>C (p.Gly143=)
n.354A>C
c.60A>C (p.Gly20=)
1g.165419884C>ACA343472817RXRGc.428G>T (p.Gly143Val)
n.353G>T
c.59G>T (p.Gly20Val)
gnomAD v4
1g.165419884C>GCA343472818RXRGc.428G>C (p.Gly143Ala)
n.353G>C
c.59G>C (p.Gly20Ala)
1g.165419884C>TCA343472819RXRGc.428G>A (p.Gly143Glu)
n.353G>A
c.59G>A (p.Gly20Glu)
1g.165419885delCA2648887620RXRGc.428del (p.Gly143GlufsTer25)
n.353del
c.59del (p.Gly20GlufsTer25)
gnomAD v4
1g.165419885C>ACA343472820RXRGc.427G>T (p.Gly143Ter)
n.352G>T
c.58G>T (p.Gly20Ter)
1g.165419885C=CA1204410120RXRGc.427G= (p.Gly143=)
n.352G=
c.58G= (p.Gly20=)
1g.165419885C>GCA343472821RXRGc.427G>C (p.Gly143Arg)
n.352G>C
c.58G>C (p.Gly20Arg)
1g.165419885C>TCA343472822RXRGc.427G>A (p.Gly143Arg)
n.352G>A
c.58G>A (p.Gly20Arg)
dbSNP
1g.165419887_165419888delCA645538635RXRGc.426_427del (p.Cys142TrpfsTer15)
n.351_352del
c.57_58del (p.Cys19TrpfsTer15)
COSMIC
1g.165419886A>CCA343472823RXRGc.426T>G (p.Cys142Trp)
n.351T>G
c.57T>G (p.Cys19Trp)
1g.165419886A>GCA421567589RXRGc.426T>C (p.Cys142=)
n.351T>C
c.57T>C (p.Cys19=)
1g.165419886A>TCA343472824RXRGc.426T>A (p.Cys142Ter)
n.351T>A
c.57T>A (p.Cys19Ter)
1g.165419887C>ACA343472827RXRGc.425G>T (p.Cys142Phe)
n.350G>T
c.56G>T (p.Cys19Phe)
1g.165419887C>GCA343472826RXRGc.425G>C (p.Cys142Ser)
n.350G>C
c.56G>C (p.Cys19Ser)
1g.165419887C>TCA343472825RXRGc.425G>A (p.Cys142Tyr)
n.350G>A
c.56G>A (p.Cys19Tyr)
1g.165419888A>CCA343472828RXRGc.424T>G (p.Cys142Gly)
n.349T>G
c.55T>G (p.Cys19Gly)
1g.165419888A>GCA343472829RXRGc.424T>C (p.Cys142Arg)
n.349T>C
c.55T>C (p.Cys19Arg)
1g.165419888A>TCA343472830RXRGc.424T>A (p.Cys142Ser)
n.349T>A
c.55T>A (p.Cys19Ser)
1g.165419889G>ACA421567590RXRGc.423C>T (p.Ile141=)
n.348C>T
c.54C>T (p.Ile18=)
1g.165419889G>CCA343472831RXRGc.423C>G (p.Ile141Met)
n.348C>G
c.54C>G (p.Ile18Met)
1g.165419889G>TCA421567591RXRGc.423C>A (p.Ile141=)
n.348C>A
c.54C>A (p.Ile18=)
gnomAD v4
1g.165419890A>CCA343472832RXRGc.422T>G (p.Ile141Ser)
n.347T>G
c.53T>G (p.Ile18Ser)
1g.165419890A>GCA343472833RXRGc.422T>C (p.Ile141Thr)
n.347T>C
c.53T>C (p.Ile18Thr)
gnomAD v4
1g.165419890A>TCA343472834RXRGc.422T>A (p.Ile141Asn)
n.347T>A
c.53T>A (p.Ile18Asn)
1g.165419891T>ACA343472835RXRGc.421A>T (p.Ile141Phe)
n.346A>T
c.52A>T (p.Ile18Phe)
1g.165419891T>CCA343472836RXRGc.421A>G (p.Ile141Val)
n.346A>G
c.52A>G (p.Ile18Val)
1g.165419891T>GCA343472837RXRGc.421A>C (p.Ile141Leu)
n.346A>C
c.52A>C (p.Ile18Leu)
1g.165419892G>ACA1220195RXRGc.420C>T (p.Ala140=)
n.345C>T
c.51C>T (p.Ala17=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.165419892G>CCA421567592RXRGc.420C>G (p.Ala140=)
n.345C>G
c.51C>G (p.Ala17=)
1g.165419892G=CA1139853394RXRGc.420C= (p.Ala140=)
n.345C=
c.51C= (p.Ala17=)
1g.165419892G>TCA421567593RXRGc.420C>A (p.Ala140=)
n.345C>A
c.51C>A (p.Ala17=)
gnomAD v4
1g.165419893G>ACA343472840RXRGc.419C>T (p.Ala140Val)
n.344C>T
c.50C>T (p.Ala17Val)
gnomAD v4
1g.165419893G>CCA343472839RXRGc.419C>G (p.Ala140Gly)
n.344C>G
c.50C>G (p.Ala17Gly)
1g.165419893G>TCA343472838RXRGc.419C>A (p.Ala140Asp)
n.344C>A
c.50C>A (p.Ala17Asp)
1g.165419893_165419894delCA2648887621RXRGc.418_419del (p.Ala140HisfsTer17)
n.343_344del
c.49_50del (p.Ala17HisfsTer17)
gnomAD v4
1g.165419894C>ACA343472841RXRGc.418G>T (p.Ala140Ser)
n.343G>T
c.49G>T (p.Ala17Ser)
gnomAD v4
1g.165419894C=CA1204410121RXRGc.418G= (p.Ala140=)
n.343G=
c.49G= (p.Ala17=)
1g.165419894C>GCA343472842RXRGc.418G>C (p.Ala140Pro)
n.343G>C
c.49G>C (p.Ala17Pro)
1g.165419894C>TCA1220196RXRGc.418G>A (p.Ala140Thr)
n.343G>A
c.49G>A (p.Ala17Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.165419895A>CCA343472843RXRGc.417T>G (p.Cys139Trp)
n.342T>G
c.48T>G (p.Cys16Trp)
1g.165419895A>GCA421567594RXRGc.417T>C (p.Cys139=)
n.342T>C
c.48T>C (p.Cys16=)
1g.165419895A>TCA343472844RXRGc.417T>A (p.Cys139Ter)
n.342T>A
c.48T>A (p.Cys16Ter)
1g.165419896C>ACA343472845RXRGc.416G>T (p.Cys139Phe)
n.341G>T
c.47G>T (p.Cys16Phe)
1g.165419896C>GCA343472846RXRGc.416G>C (p.Cys139Ser)
n.341G>C
c.47G>C (p.Cys16Ser)
1g.165419896C>TCA343472847RXRGc.416G>A (p.Cys139Tyr)
n.341G>A
c.47G>A (p.Cys16Tyr)
1g.165419897A>CCA343472848RXRGc.415T>G (p.Cys139Gly)
n.340T>G
c.46T>G (p.Cys16Gly)
1g.165419897A>GCA343472849RXRGc.415T>C (p.Cys139Arg)
n.340T>C
c.46T>C (p.Cys16Arg)
1g.165419897A>TCA343472850RXRGc.415T>A (p.Cys139Ser)
n.340T>A
c.46T>A (p.Cys16Ser)
1g.165419898G>ACA421567596RXRGc.414C>T (p.Ile138=)
n.339C>T
c.45C>T (p.Ile15=)
1g.165419898G>CCA343472851RXRGc.414C>G (p.Ile138Met)
n.339C>G
c.45C>G (p.Ile15Met)
1g.165419898G>TCA421567595RXRGc.414C>A (p.Ile138=)
n.339C>A
c.45C>A (p.Ile15=)
1g.165419899A=CA1204410122RXRGc.413T= (p.Ile138=)
n.338T=
c.44T= (p.Ile15=)
1g.165419899A>CCA343472853RXRGc.413T>G (p.Ile138Ser)
n.338T>G
c.44T>G (p.Ile15Ser)
1g.165419899A>GCA343472854RXRGc.413T>C (p.Ile138Thr)
n.338T>C
c.44T>C (p.Ile15Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.165419899A>TCA343472852RXRGc.413T>A (p.Ile138Asn)
n.338T>A
c.44T>A (p.Ile15Asn)
gnomAD v4
1g.165419900T>ACA343472857RXRGc.412A>T (p.Ile138Phe)
n.337A>T
c.43A>T (p.Ile15Phe)
gnomAD v4
1g.165419900T>CCA343472855RXRGc.412A>G (p.Ile138Val)
n.337A>G
c.43A>G (p.Ile15Val)
1g.165419900T>GCA343472856RXRGc.412A>C (p.Ile138Leu)
n.337A>C
c.43A>C (p.Ile15Leu)
1g.165419901G>ACA421567597RXRGc.411C>T (p.His137=)
n.336C>T
c.42C>T (p.His14=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.165419901G>CCA343472858RXRGc.411C>G (p.His137Gln)
n.336C>G
c.42C>G (p.His14Gln)
1g.165419901G=CA1204410123RXRGc.411C= (p.His137=)
n.336C=
c.42C= (p.His14=)
1g.165419901G>TCA343472859RXRGc.411C>A (p.His137Gln)
n.336C>A
c.42C>A (p.His14Gln)
1g.165419902T>ACA343472860RXRGc.410A>T (p.His137Leu)
n.335A>T
c.41A>T (p.His14Leu)
1g.165419902T>CCA343472861RXRGc.410A>G (p.His137Arg)
n.335A>G
c.41A>G (p.His14Arg)
1g.165419902T>GCA32221226RXRGc.410A>C (p.His137Pro)
n.335A>C
c.41A>C (p.His14Pro)
dbSNP
1g.165419902T=CA1204410124RXRGc.410A= (p.His137=)
n.335A=
c.41A= (p.His14=)
1g.165419903G>ACA343472862RXRGc.409C>T (p.His137Tyr)
n.334C>T
c.40C>T (p.His14Tyr)
1g.165419903G>CCA343472863RXRGc.409C>G (p.His137Asp)
n.334C>G
c.40C>G (p.His14Asp)
1g.165419903G>TCA343472864RXRGc.409C>A (p.His137Asn)
n.334C>A
c.40C>A (p.His14Asn)
1g.165419904T>ACA343472865RXRGc.408A>T (p.Lys136Asn)
n.333A>T
c.39A>T (p.Lys13Asn)
COSMIC
1g.165419904T>CCA421567598RXRGc.408A>G (p.Lys136=)
n.333A>G
c.39A>G (p.Lys13=)
1g.165419904T>GCA343472866RXRGc.408A>C (p.Lys136Asn)
n.333A>C
c.39A>C (p.Lys13Asn)
1g.165419905T>ACA343472868RXRGc.407A>T (p.Lys136Ile)
n.332A>T
c.38A>T (p.Lys13Ile)
1g.165419905T>CCA343472869RXRGc.407A>G (p.Lys136Arg)
n.332A>G
c.38A>G (p.Lys13Arg)
gnomAD v4
1g.165419905T>GCA343472867RXRGc.407A>C (p.Lys136Thr)
n.332A>C
c.38A>C (p.Lys13Thr)
1g.165419906T>ACA343472870RXRGc.406A>T (p.Lys136Ter)
n.331A>T
c.37A>T (p.Lys13Ter)
1g.165419906T>CCA343472871RXRGc.406A>G (p.Lys136Glu)
n.331A>G
c.37A>G (p.Lys13Glu)
1g.165419906T>GCA343472872RXRGc.406A>C (p.Lys136Gln)
n.331A>C
c.37A>C (p.Lys13Gln)
1g.165419907A>CCA421567599RXRGc.405T>G (p.Val135=)
n.330T>G
c.36T>G (p.Val12=)
1g.165419907A>GCA421567600RXRGc.405T>C (p.Val135=)
n.330T>C
c.36T>C (p.Val12=)
1g.165419907A>TCA421567601RXRGc.405T>A (p.Val135=)
n.330T>A
c.36T>A (p.Val12=)
1g.165419908A>CCA343472873RXRGc.404T>G (p.Val135Gly)
n.329T>G
c.35T>G (p.Val12Gly)
1g.165419908A>GCA343472874RXRGc.404T>C (p.Val135Ala)
n.329T>C
c.35T>C (p.Val12Ala)
1g.165419908A>TCA343472875RXRGc.404T>A (p.Val135Asp)
n.329T>A
c.35T>A (p.Val12Asp)
1g.165419909C>ACA343472876RXRGc.403G>T (p.Val135Phe)
n.328G>T
c.34G>T (p.Val12Phe)
ClinVar
1g.165419909C>GCA343472878RXRGc.403G>C (p.Val135Leu)
n.328G>C
c.34G>C (p.Val12Leu)
1g.165419909C>TCA343472877RXRGc.403G>A (p.Val135Ile)
n.328G>A
c.34G>A (p.Val12Ile)
1g.165419910C>ACA421567602RXRGc.402G>T (p.Leu134=)
n.327G>T
c.33G>T (p.Leu11=)
1g.165419910C>GCA421567603RXRGc.402G>C (p.Leu134=)
n.327G>C
c.33G>C (p.Leu11=)
1g.165419910C>TCA421567604RXRGc.402G>A (p.Leu134=)
n.327G>A
c.33G>A (p.Leu11=)
1g.165419911A>CCA343472879RXRGc.401T>G (p.Leu134Arg)
n.326T>G
c.32T>G (p.Leu11Arg)
gnomAD v4
1g.165419911A>GCA343472880RXRGc.401T>C (p.Leu134Pro)
n.326T>C
c.32T>C (p.Leu11Pro)
1g.165419911A>TCA343472881RXRGc.401T>A (p.Leu134Gln)
n.326T>A
c.32T>A (p.Leu11Gln)
1g.165419912G>ACA421567605RXRGc.400C>T (p.Leu134=)
n.325C>T
c.31C>T (p.Leu11=)
1g.165419912G>CCA343472882RXRGc.400C>G (p.Leu134Val)
n.325C>G
c.31C>G (p.Leu11Val)
1g.165419912G>TCA343472883RXRGc.400C>A (p.Leu134Met)
n.325C>A
c.31C>A (p.Leu11Met)
1g.165419913A=CA1145509703RXRGc.399T= (p.Ser133=)
n.324T=
c.30T= (p.Ser10=)
1g.165419913A>CCA421567606RXRGc.399T>G (p.Ser133=)
n.324T>G
c.30T>G (p.Ser10=)
1g.165419913A>GCA421567607RXRGc.399T>C (p.Ser133=)
n.324T>C
c.30T>C (p.Ser10=)
dbSNP gnomAD v3 gnomAD v4
1g.165419913A>TCA32221227RXRGc.399T>A (p.Ser133=)
n.324T>A
c.30T>A (p.Ser10=)
dbSNP gnomAD v3 gnomAD v4
1g.165419913_165419915delCA645538636RXRGc.397_399del (p.Ser133del)
n.322_324del
c.28_30del (p.Ser10del)
COSMIC
1g.165419914G>ACA343472884RXRGc.398C>T (p.Ser133Phe)
n.323C>T
c.29C>T (p.Ser10Phe)
1g.165419914G>CCA1220198RXRGc.398C>G (p.Ser133Cys)
n.323C>G
c.29C>G (p.Ser10Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.165419914G=CA1204410125RXRGc.398C= (p.Ser133=)
n.323C=
c.29C= (p.Ser10=)
1g.165419914G>TCA1220197RXRGc.398C>A (p.Ser133Tyr)
n.323C>A
c.29C>A (p.Ser10Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.165419915A>CCA343472885RXRGc.397T>G (p.Ser133Ala)
n.322T>G
c.28T>G (p.Ser10Ala)
1g.165419915A>GCA343472886RXRGc.397T>C (p.Ser133Pro)
n.322T>C
c.28T>C (p.Ser10Pro)
gnomAD v4
1g.165419915A>TCA343472887RXRGc.397T>A (p.Ser133Thr)
n.322T>A
c.28T>A (p.Ser10Thr)
1g.165419916T>ACA421567608RXRGc.396A>T (p.Gly132=)
n.321A>T
c.27A>T (p.Gly9=)
1g.165419916T>CCA421567609RXRGc.396A>G (p.Gly132=)
n.321A>G
c.27A>G (p.Gly9=)
1g.165419916T>GCA421567610RXRGc.396A>C (p.Gly132=)
n.321A>C
c.27A>C (p.Gly9=)
1g.165419917C>ACA343472888RXRGc.395G>T (p.Gly132Val)
n.320G>T
c.26G>T (p.Gly9Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.165419917C=CA1204410126RXRGc.395G= (p.Gly132=)
n.320G=
c.26G= (p.Gly9=)
1g.165419917C>GCA343472889RXRGc.395G>C (p.Gly132Ala)
n.320G>C
c.26G>C (p.Gly9Ala)
1g.165419917C>TCA343472890RXRGc.395G>A (p.Gly132Glu)
n.320G>A
c.26G>A (p.Gly9Glu)
dbSNP
1g.165419918C>ACA343472891RXRGc.394G>T (p.Gly132Ter)
n.319G>T
c.25G>T (p.Gly9Ter)
1g.165419918C=CA1143431634RXRGc.394G= (p.Gly132=)
n.319G=
c.25G= (p.Gly9=)
1g.165419918C>GCA343472892RXRGc.394G>C (p.Gly132Arg)
n.319G>C
c.25G>C (p.Gly9Arg)
1g.165419918C>TCA1220199RXRGc.394G>A (p.Gly132Arg)
n.319G>A
c.25G>A (p.Gly9Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.165419919G>ACA1220200RXRGc.393C>T (p.Pro131=)
n.318C>T
c.24C>T (p.Pro8=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.165419919G>CCA421567612RXRGc.393C>G (p.Pro131=)
n.318C>G
c.24C>G (p.Pro8=)
gnomAD v4
1g.165419919G=CA1144406252RXRGc.393C= (p.Pro131=)
n.318C=
c.24C= (p.Pro8=)
1g.165419919G>TCA421567611RXRGc.393C>A (p.Pro131=)
n.318C>A
c.24C>A (p.Pro8=)
1g.165419920G>ACA343472894RXRGc.392C>T (p.Pro131Leu)
n.317C>T
c.23C>T (p.Pro8Leu)
1g.165419920G>CCA343472895RXRGc.392C>G (p.Pro131Arg)
n.317C>G
c.23C>G (p.Pro8Arg)
1g.165419920G>TCA343472893RXRGc.392C>A (p.Pro131His)
n.317C>A
c.23C>A (p.Pro8His)
1g.165419921G>ACA1220201RXRGc.391C>T (p.Pro131Ser)
n.316C>T
c.22C>T (p.Pro8Ser)
dbSNP ExAC gnomAD v2
1g.165419921G>CCA343472896RXRGc.391C>G (p.Pro131Ala)
n.316C>G
c.22C>G (p.Pro8Ala)
1g.165419921G=CA1204410127RXRGc.391C= (p.Pro131=)
n.316C=
c.22C= (p.Pro8=)
1g.165419921G>TCA343472897RXRGc.391C>A (p.Pro131Thr)
n.316C>A
c.22C>A (p.Pro8Thr)
1g.165419922G>ACA421567614RXRGc.390C>T (p.Ser130=)
n.315C>T
c.21C>T (p.Ser7=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.165419922G>CCA343472898RXRGc.390C>G (p.Ser130Arg)
n.315C>G
c.21C>G (p.Ser7Arg)
1g.165419922G=CA1204410128RXRGc.390C= (p.Ser130=)
n.315C=
c.21C= (p.Ser7=)
1g.165419922G>TCA343472899RXRGc.390C>A (p.Ser130Arg)
n.315C>A
c.21C>A (p.Ser7Arg)
dbSNP gnomAD v4
1g.165419923C>ACA343472902RXRGc.389G>T (p.Ser130Ile)
n.314G>T
c.20G>T (p.Ser7Ile)
1g.165419923C>GCA343472900RXRGc.389G>C (p.Ser130Thr)
n.314G>C
c.20G>C (p.Ser7Thr)
1g.165419923C>TCA343472901RXRGc.389G>A (p.Ser130Asn)
n.314G>A
c.20G>A (p.Ser7Asn)
1g.165419924T>ACA343472903RXRGc.388A>T (p.Ser130Cys)
n.313A>T
c.19A>T (p.Ser7Cys)
1g.165419924T>CCA343472904RXRGc.388A>G (p.Ser130Gly)
n.313A>G
c.19A>G (p.Ser7Gly)
1g.165419924T>GCA343472905RXRGc.388A>C (p.Ser130Arg)
n.313A>C
c.19A>C (p.Ser7Arg)
1g.165419925G>ACA421567618RXRGc.387C>T (p.Thr129=)
n.312C>T
c.18C>T (p.Thr6=)
dbSNP
1g.165419925G>CCA421567619RXRGc.387C>G (p.Thr129=)
n.312C>G
c.18C>G (p.Thr6=)
1g.165419925G=CA1204410129RXRGc.387C= (p.Thr129=)
n.312C=
c.18C= (p.Thr6=)
1g.165419925G>TCA421567620RXRGc.387C>A (p.Thr129=)
n.312C>A
c.18C>A (p.Thr6=)
1g.165419926G>ACA32221228RXRGc.386C>T (p.Thr129Ile)
n.311C>T
c.17C>T (p.Thr6Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.165419926G>CCA343472906RXRGc.386C>G (p.Thr129Ser)
n.311C>G
c.17C>G (p.Thr6Ser)
1g.165419926G=CA1204410130RXRGc.386C= (p.Thr129=)
n.311C=
c.17C= (p.Thr6=)
1g.165419926G>TCA343472907RXRGc.386C>A (p.Thr129Asn)
n.311C>A
c.17C>A (p.Thr6Asn)
dbSNP gnomAD v3 gnomAD v4
1g.165419927T>ACA343472909RXRGc.385A>T (p.Thr129Ser)
n.310A>T
c.16A>T (p.Thr6Ser)
1g.165419927T>CCA343472910RXRGc.385A>G (p.Thr129Ala)
n.310A>G
c.16A>G (p.Thr6Ala)
1g.165419927T>GCA343472908RXRGc.385A>C (p.Thr129Pro)
n.310A>C
c.16A>C (p.Thr6Pro)
1g.165419928G>ACA421567621RXRGc.384C>T (p.Ser128=)
n.309C>T
c.15C>T (p.Ser5=)
gnomAD v4
1g.165419928G>CCA421567622RXRGc.384C>G (p.Ser128=)
n.309C>G
c.15C>G (p.Ser5=)
1g.165419928G>TCA421567623RXRGc.384C>A (p.Ser128=)
n.309C>A
c.15C>A (p.Ser5=)
1g.165419929G>ACA343472912RXRGc.383C>T (p.Ser128Phe)
n.308C>T
c.14C>T (p.Ser5Phe)
1g.165419929G>CCA343472911RXRGc.383C>G (p.Ser128Cys)
n.308C>G
c.14C>G (p.Ser5Cys)
1g.165419929G>TCA343472913RXRGc.383C>A (p.Ser128Tyr)
n.308C>A
c.14C>A (p.Ser5Tyr)
1g.165419930A>CCA343472914RXRGc.382T>G (p.Ser128Ala)
n.307T>G
c.13T>G (p.Ser5Ala)
1g.165419930A>GCA343472915RXRGc.382T>C (p.Ser128Pro)
n.307T>C
c.13T>C (p.Ser5Pro)
gnomAD v4
1g.165419930A>TCA343472916RXRGc.382T>A (p.Ser128Thr)
n.307T>A
c.13T>A (p.Ser5Thr)
1g.165419931T>ACA421567624RXRGc.381A>T (p.Pro127=)
n.306A>T
c.12A>T (p.Pro4=)
1g.165419931T>CCA1220202RXRGc.381A>G (p.Pro127=)
n.306A>G
c.12A>G (p.Pro4=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.165419931T>GCA421567625RXRGc.381A>C (p.Pro127=)
n.306A>C
c.12A>C (p.Pro4=)
dbSNP
1g.165419931T=CA1143374881RXRGc.381A= (p.Pro127=)
n.306A=
c.12A= (p.Pro4=)
1g.165419932G>ACA343472917RXRGc.380C>T (p.Pro127Leu)
n.305C>T
c.11C>T (p.Pro4Leu)
1g.165419932G>CCA343472918RXRGc.380C>G (p.Pro127Arg)
n.305C>G
c.11C>G (p.Pro4Arg)
1g.165419932G>TCA343472919RXRGc.380C>A (p.Pro127Gln)
n.305C>A
c.11C>A (p.Pro4Gln)
gnomAD v4
1g.165419933G>ACA1220203RXRGc.379C>T (p.Pro127Ser)
n.304C>T
c.10C>T (p.Pro4Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.165419933G>CCA343472920RXRGc.379C>G (p.Pro127Ala)
n.304C>G
c.10C>G (p.Pro4Ala)
COSMIC
1g.165419933G=CA1204410131RXRGc.379C= (p.Pro127=)
n.304C=
c.10C= (p.Pro4=)
1g.165419933G>TCA343472921RXRGc.379C>A (p.Pro127Thr)
n.304C>A
c.10C>A (p.Pro4Thr)
1g.165419934G>ACA421567627RXRGc.378C>T (p.Tyr126=)
n.303C>T
c.9C>T (p.Tyr3=)
dbSNP gnomAD v2 gnomAD v4
1g.165419934G>CCA343472922RXRGc.378C>G (p.Tyr126Ter)
n.303C>G
c.9C>G (p.Tyr3Ter)
1g.165419934G=CA1204410132RXRGc.378C= (p.Tyr126=)
n.303C=
c.9C= (p.Tyr3=)
1g.165419934G>TCA343472923RXRGc.378C>A (p.Tyr126Ter)
n.303C>A
c.9C>A (p.Tyr3Ter)
1g.165419935T>ACA343472926RXRGc.377A>T (p.Tyr126Phe)
n.302A>T
c.8A>T (p.Tyr3Phe)
1g.165419935T>CCA343472924RXRGc.377A>G (p.Tyr126Cys)
n.302A>G
c.8A>G (p.Tyr3Cys)
gnomAD v4
1g.165419935T>GCA343472925RXRGc.377A>C (p.Tyr126Ser)
n.302A>C
c.8A>C (p.Tyr3Ser)
dbSNP
1g.165419935T=CA1204410133RXRGc.377A= (p.Tyr126=)
n.302A=
c.8A= (p.Tyr3=)
1g.165419936A>CCA343472927RXRGc.376T>G (p.Tyr126Asp)
n.301T>G
c.7T>G (p.Tyr3Asp)
1g.165419936A>GCA343472928RXRGc.376T>C (p.Tyr126His)
n.301T>C
c.7T>C (p.Tyr3His)
gnomAD v4
1g.165419936A>TCA343472929RXRGc.376T>A (p.Tyr126Asn)
n.301T>A
c.7T>A (p.Tyr3Asn)
1g.165419937G>ACA421567629RXRGc.375C>T (p.Asn125=)
n.300C>T
c.6C>T (p.Asn2=)
1g.165419937G>CCA343472930RXRGc.375C>G (p.Asn125Lys)
n.300C>G
c.6C>G (p.Asn2Lys)
dbSNP gnomAD v3 gnomAD v4
1g.165419937G=CA1204410134RXRGc.375C= (p.Asn125=)
n.300C=
c.6C= (p.Asn2=)
1g.165419937G>TCA343472931RXRGc.375C>A (p.Asn125Lys)
n.300C>A
c.6C>A (p.Asn2Lys)
1g.165419938T>ACA343472932RXRGc.374A>T (p.Asn125Ile)
n.299A>T
c.5A>T (p.Asn2Ile)
1g.165419938T>CCA343472933RXRGc.374A>G (p.Asn125Ser)
n.299A>G
c.5A>G (p.Asn2Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.165419938T>GCA343472934RXRGc.374A>C (p.Asn125Thr)
n.299A>C
c.5A>C (p.Asn2Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.165419938T=CA1204410135RXRGc.374A= (p.Asn125=)
n.299A=
c.5A= (p.Asn2=)
1g.165419939T>ACA343472935RXRGc.373A>T (p.Asn125Tyr)
n.298A>T
c.4A>T (p.Asn2Tyr)
1g.165419939T>CCA343472936RXRGc.373A>G (p.Asn125Asp)
n.298A>G
c.4A>G (p.Asn2Asp)
1g.165419939T>GCA343472937RXRGc.373A>C (p.Asn125His)
n.298A>C
c.4A>C (p.Asn2His)
1g.165419940C>ACA343472939RXRGc.372G>T (p.Met124Ile)
n.297G>T
c.3G>T (p.Met1Ile)
1g.165419940C>GCA343472940RXRGc.372G>C (p.Met124Ile)
n.297G>C
c.3G>C (p.Met1Ile)
1g.165419940C>TCA343472938RXRGc.372G>A (p.Met124Ile)
n.297G>A
c.3G>A (p.Met1Ile)
1g.165419941A>CCA343472941RXRGc.371T>G (p.Met124Arg)
n.296T>G
c.2T>G (p.Met1Arg)
1g.165419941A>GCA343472942RXRGc.371T>C (p.Met124Thr)
n.296T>C
c.2T>C (p.Met1Thr)
1g.165419941A>TCA343472943RXRGc.371T>A (p.Met124Lys)
n.296T>A
c.2T>A (p.Met1Lys)
1g.165419942T>ACA343472944RXRGc.370A>T (p.Met124Leu)
n.295A>T
c.1A>T (p.Met1Leu)
1g.165419942T>CCA343472945RXRGc.370A>G (p.Met124Val)
n.295A>G
c.1A>G (p.Met1Val)
gnomAD v4
1g.165419942T>GCA343472946RXRGc.370A>C (p.Met124Leu)
n.295A>C
c.1A>C (p.Met1Leu)
1g.165419943G>ACA1220204RXRGc.369C>T (p.Asn123=)
n.294C>T
c.-1C>T (n.-1C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.165419943G>CCA343472947RXRGc.369C>G (p.Asn123Lys)
n.294C>G
c.-1C>G (n.-1C>G)
1g.165419943G=CA1143436112RXRGc.369C= (p.Asn123=)
n.294C=
c.-1C= (n.-1C=)
1g.165419943G>TCA343472948RXRGc.369C>A (p.Asn123Lys)
n.294C>A
c.-1C>A (n.-1C>A)
1g.165419944T>ACA343472949RXRGc.368A>T (p.Asn123Ile)
n.293A>T
c.-2A>T (n.-2A>T)
1g.165419944T>CCA343472950RXRGc.368A>G (p.Asn123Ser)
n.293A>G
c.-2A>G (n.-2A>G)
1g.165419944T>GCA343472951RXRGc.368A>C (p.Asn123Thr)
n.293A>C
c.-2A>C (n.-2A>C)
1g.165419945T>ACA343472953RXRGc.367A>T (p.Asn123Tyr)
n.292A>T
c.-3A>T (n.-3A>T)
1g.165419945T>CCA343472954RXRGc.367A>G (p.Asn123Asp)
n.292A>G
c.-3A>G (n.-3A>G)
1g.165419945T>GCA343472952RXRGc.367A>C (p.Asn123His)
n.292A>C
c.-3A>C (n.-3A>C)
1g.165419946T>ACA421567636RXRGc.366A>T (p.Gly122=)
n.291A>T
c.-4A>T (n.-4A>T)
1g.165419946T>CCA421567637RXRGc.366A>G (p.Gly122=)
n.291A>G
c.-4A>G (n.-4A>G)
1g.165419946T>GCA421567638RXRGc.366A>C (p.Gly122=)
n.291A>C
c.-4A>C (n.-4A>C)
1g.165419947C>ACA343472955RXRGc.365G>T (p.Gly122Val)
n.290G>T
c.-5G>T (n.-5G>T)
1g.165419947C>GCA343472956RXRGc.365G>C (p.Gly122Ala)
n.290G>C
c.-5G>C (n.-5G>C)
1g.165419947C>TCA343472957RXRGc.365G>A (p.Gly122Glu)
n.290G>A
c.-5G>A (n.-5G>A)
COSMIC
1g.165419948C>ACA343472958RXRGc.364G>T (p.Gly122Ter)
n.289G>T
c.-6G>T (n.-6G>T)
1g.165419948C>GCA343472959RXRGc.364G>C (p.Gly122Arg)
n.289G>C
c.-6G>C (n.-6G>C)
1g.165419948C>TCA343472960RXRGc.364G>A (p.Gly122Arg)
n.289G>A
c.-6G>A (n.-6G>A)
1g.165419949A=CA1204410136RXRGc.363T= (p.Ile121=)
n.288T=
c.-7T= (n.-7T=)
1g.165419949A>CCA343472961RXRGc.363T>G (p.Ile121Met)
n.288T>G
c.-7T>G (n.-7T>G)
dbSNP gnomAD v2
1g.165419949A>GCA421567639RXRGc.363T>C (p.Ile121=)
n.288T>C
c.-7T>C (n.-7T>C)
dbSNP gnomAD v4
1g.165419949A>TCA421567640RXRGc.363T>A (p.Ile121=)
n.288T>A
c.-7T>A (n.-7T>A)
1g.165419950A=CA1204410137RXRGc.362T= (p.Ile121=)
n.287T=
c.-8T= (n.-8T=)
1g.165419950A>CCA343472962RXRGc.362T>G (p.Ile121Ser)
n.287T>G
c.-8T>G (n.-8T>G)
1g.165419950A>GCA343472964RXRGc.362T>C (p.Ile121Thr)
n.287T>C
c.-8T>C (n.-8T>C)
dbSNP
1g.165419950A>TCA343472963RXRGc.362T>A (p.Ile121Asn)
n.287T>A
c.-8T>A (n.-8T>A)
1g.165419951T>ACA343472965RXRGc.361A>T (p.Ile121Phe)
n.286A>T
c.-9A>T (n.-9A>T)
gnomAD v4
1g.165419951T>CCA1220205RXRGc.361A>G (p.Ile121Val)
n.286A>G
c.-9A>G (n.-9A>G)
dbSNP ExAC gnomAD v3 gnomAD v4
1g.165419951T>GCA343472966RXRGc.361A>C (p.Ile121Leu)
n.286A>C
c.-9A>C (n.-9A>C)
1g.165419951T=CA1144328350RXRGc.361A= (p.Ile121=)
n.286A=
c.-9A= (n.-9A=)
1g.165419952C>ACA421567642RXRGc.360G>T (p.Gly120=)
n.285G>T
c.-10G>T (n.-10G>T)
1g.165419952C=CA1204410138RXRGc.360G= (p.Gly120=)
n.285G=
c.-10G= (n.-10G=)
1g.165419952C>GCA421567643RXRGc.360G>C (p.Gly120=)
n.285G>C
c.-10G>C (n.-10G>C)
1g.165419952C>TCA1220206RXRGc.360G>A (p.Gly120=)
n.285G>A
c.-10G>A (n.-10G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.165419953C>ACA343472969RXRGc.359G>T (p.Gly120Val)
n.284G>T
c.-11G>T (n.-11G>T)
1g.165419953C>GCA343472968RXRGc.359G>C (p.Gly120Ala)
n.284G>C
c.-11G>C (n.-11G>C)
gnomAD v4
1g.165419953C>TCA343472967RXRGc.359G>A (p.Gly120Glu)
n.284G>A
c.-11G>A (n.-11G>A)
gnomAD v4
1g.165419953_165419954insTCA2648887622RXRGc.358_359insA (p.Gly120GlufsTer17)
n.283_284insA
c.-12_-11insA (n.-12_-11insA)
gnomAD v4
1g.165419954C>ACA343472970RXRGc.358G>T (p.Gly120Trp)
n.283G>T
c.-12G>T (n.-12G>T)
1g.165419954C=CA1142284044RXRGc.358G= (p.Gly120=)
n.283G=
c.-12G= (n.-12G=)
1g.165419954C>GCA343472971RXRGc.358G>C (p.Gly120Arg)
n.283G>C
c.-12G>C (n.-12G>C)
1g.165419954C>TCA1220207RXRGc.358G>A (p.Gly120Arg)
n.283G>A
c.-12G>A (n.-12G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.165419955G>ACA1220208RXRGc.357C>T (p.Pro119=)
n.282C>T
c.-13C>T (n.-13C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.165419955G>CCA421567645RXRGc.357C>G (p.Pro119=)
n.282C>G
c.-13C>G (n.-13C>G)
gnomAD v4
1g.165419955G=CA1141964335RXRGc.357C= (p.Pro119=)
n.282C=
c.-13C= (n.-13C=)
1g.165419955G>TCA421567646RXRGc.357C>A (p.Pro119=)
n.282C>A
c.-13C>A (n.-13C>A)
gnomAD v4
1g.165419956G>ACA343472972RXRGc.356C>T (p.Pro119Leu)
n.281C>T
c.-14C>T (n.-14C>T)
1g.165419956G>CCA343472973RXRGc.356C>G (p.Pro119Arg)
n.281C>G
c.-14C>G (n.-14C>G)
1g.165419956G>TCA343472974RXRGc.356C>A (p.Pro119His)
n.281C>A
c.-14C>A (n.-14C>A)
1g.165419957G>ACA343472975RXRGc.355C>T (p.Pro119Ser)
n.280C>T
c.-15C>T (n.-15C>T)
1g.165419957G>CCA343472976RXRGc.355C>G (p.Pro119Ala)
n.280C>G
c.-15C>G (n.-15C>G)
gnomAD v4
1g.165419957G>TCA343472977RXRGc.355C>A (p.Pro119Thr)
n.280C>A
c.-15C>A (n.-15C>A)
ClinVar gnomAD v4
1g.165419958A>CCA421567650RXRGc.354T>G (p.Leu118=)
n.279T>G
c.-16T>G (n.-16T>G)
1g.165419958A>GCA421567652RXRGc.354T>C (p.Leu118=)
n.279T>C
c.-16T>C (n.-16T>C)
1g.165419958A>TCA421567651RXRGc.354T>A (p.Leu118=)
n.279T>A
c.-16T>A (n.-16T>A)
1g.165419959A>CCA343472978RXRGc.353T>G (p.Leu118Arg)
n.278T>G
c.-17T>G (n.-17T>G)
1g.165419959A>GCA343472979RXRGc.353T>C (p.Leu118Pro)
n.278T>C
c.-17T>C (n.-17T>C)
1g.165419959A>TCA343472980RXRGc.353T>A (p.Leu118His)
n.278T>A
c.-17T>A (n.-17T>A)
1g.165419960G>ACA343472981RXRGc.352C>T (p.Leu118Phe)
n.277C>T
c.-18C>T (n.-18C>T)
COSMIC
1g.165419960G>CCA343472982RXRGc.352C>G (p.Leu118Val)
n.277C>G
c.-18C>G (n.-18C>G)
1g.165419960G>TCA343472983RXRGc.352C>A (p.Leu118Ile)
n.277C>A
c.-18C>A (n.-18C>A)
1g.165419961C>ACA421567655RXRGc.351G>T (p.Gly117=)
n.276G>T
c.-19G>T (n.-19G>T)
1g.165419961C=CA1204410139RXRGc.351G= (p.Gly117=)
n.276G=
c.-19G= (n.-19G=)
1g.165419961C>GCA421567656RXRGc.351G>C (p.Gly117=)
n.276G>C
c.-19G>C (n.-19G>C)
dbSNP
1g.165419961C>TCA421567657RXRGc.351G>A (p.Gly117=)
n.276G>A
c.-19G>A (n.-19G>A)
dbSNP gnomAD v2
1g.165419962C>ACA343472985RXRGc.350G>T (p.Gly117Val)
n.275G>T
c.-20G>T (n.-20G>T)
1g.165419962C=CA1204410140RXRGc.350G= (p.Gly117=)
n.275G=
c.-20G= (n.-20G=)
1g.165419962C>GCA343472984RXRGc.350G>C (p.Gly117Ala)
n.275G>C
c.-20G>C (n.-20G>C)
1g.165419962C>TCA1220209RXRGc.350G>A (p.Gly117Glu)
n.275G>A
c.-20G>A (n.-20G>A)
dbSNP ExAC gnomAD v2
1g.165419963C>ACA343472986RXRGc.349G>T (p.Gly117Trp)
n.274G>T
c.-21G>T (n.-21G>T)
1g.165419963C>GCA343472987RXRGc.349G>C (p.Gly117Arg)
n.274G>C
c.-21G>C (n.-21G>C)
ClinVar
1g.165419963C>TCA343472988RXRGc.349G>A (p.Gly117Arg)
n.274G>A
c.-21G>A (n.-21G>A)
COSMIC
1g.165419965_165419974delCA2648887623RXRGc.340_349del (p.Pro114GlyfsTer8)
n.265_274del
c.-30_-21del (n.-30_-21del)
gnomAD v4

Number of alleles fetched