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 |
|---|---|---|---|---|---|
| 19 | g.13025363_13025365delinsA | CA2695228220 | NFIX | c.367_369delinsA (p.Asp123LysfsTer14) c.188_190delinsA c.370_372delinsA (p.Asp124LysfsTer14) c.394_396delinsA (p.Asp132LysfsTer14) c.379_381delinsA (p.Asp127LysfsTer14) c.229_231delinsA (p.Asp77LysfsTer?) c.346_348delinsA (p.Asp116LysfsTer14) c.*201_*203delinsA (n.*201_*203delinsA) c.229_231delinsA (p.Asp77LysfsTer14) c.418_420delinsA (p.Asp140LysfsTer14) c.547_549delinsA (p.Asp183LysfsTer14) | |
| 19 | g.13025365C>A | CA404314631 | NFIX | c.369C>A (p.Asp123Glu) c.190C>A c.372C>A (p.Asp124Glu) c.396C>A (p.Asp132Glu) c.381C>A (p.Asp127Glu) c.231C>A (p.Asp77Glu) c.348C>A (p.Asp116Glu) c.*203C>A (n.*203C>A) c.420C>A (p.Asp140Glu) c.549C>A (p.Asp183Glu) | gnomAD v4 |
| 19 | g.13025365C>G | CA404314633 | NFIX | c.369C>G (p.Asp123Glu) c.190C>G c.372C>G (p.Asp124Glu) c.396C>G (p.Asp132Glu) c.381C>G (p.Asp127Glu) c.231C>G (p.Asp77Glu) c.348C>G (p.Asp116Glu) c.*203C>G (n.*203C>G) c.420C>G (p.Asp140Glu) c.549C>G (p.Asp183Glu) | |
| 19 | g.13025365C>T | CA505780768 | NFIX | c.369C>T (p.Asp123=) c.190C>T c.372C>T (p.Asp124=) c.396C>T (p.Asp132=) c.381C>T (p.Asp127=) c.231C>T (p.Asp77=) c.348C>T (p.Asp116=) c.*203C>T (n.*203C>T) c.420C>T (p.Asp140=) c.549C>T (p.Asp183=) | gnomAD v4 |
| 19 | g.13025366A>C | CA404314635 | NFIX | c.370A>C (p.Lys124Gln) c.191A>C c.373A>C (p.Lys125Gln) c.397A>C (p.Lys133Gln) c.382A>C (p.Lys128Gln) c.232A>C (p.Lys78Gln) c.349A>C (p.Lys117Gln) c.*204A>C (n.*204A>C) c.421A>C (p.Lys141Gln) c.550A>C (p.Lys184Gln) | |
| 19 | g.13025366A>G | CA404314636 | NFIX | c.370A>G (p.Lys124Glu) c.191A>G c.373A>G (p.Lys125Glu) c.397A>G (p.Lys133Glu) c.382A>G (p.Lys128Glu) c.232A>G (p.Lys78Glu) c.349A>G (p.Lys117Glu) c.*204A>G (n.*204A>G) c.421A>G (p.Lys141Glu) c.550A>G (p.Lys184Glu) | ClinVar dbSNP |
| 19 | g.13025366A>T | CA404314641 | NFIX | c.370A>T (p.Lys124Ter) c.191A>T c.373A>T (p.Lys125Ter) c.397A>T (p.Lys133Ter) c.382A>T (p.Lys128Ter) c.232A>T (p.Lys78Ter) c.349A>T (p.Lys117Ter) c.*204A>T (n.*204A>T) c.421A>T (p.Lys141Ter) c.550A>T (p.Lys184Ter) | |
| 19 | g.13025366_13025390del | CA2739291183 | NFIX | c.370_394del (p.Lys124TrpfsTer2) c.191_215del c.373_397del (p.Lys125TrpfsTer2) c.397_421del (p.Lys133TrpfsTer2) c.382_406del (p.Lys128TrpfsTer2) c.232_234+22del c.349_373del (p.Lys117TrpfsTer2) c.*204_*228del (n.*204_*228del) c.232_256del (p.Lys78TrpfsTer2) c.421_445del (p.Lys141TrpfsTer2) c.550_574del (p.Lys184TrpfsTer2) | |
| 19 | g.13025367A>C | CA404314643 | NFIX | c.371A>C (p.Lys124Thr) c.192A>C c.374A>C (p.Lys125Thr) c.398A>C (p.Lys133Thr) c.383A>C (p.Lys128Thr) c.233A>C (p.Lys78Thr) c.350A>C (p.Lys117Thr) c.*205A>C (n.*205A>C) c.422A>C (p.Lys141Thr) c.551A>C (p.Lys184Thr) | |
| 19 | g.13025367A>G | CA404314645 | NFIX | c.371A>G (p.Lys124Arg) c.192A>G c.374A>G (p.Lys125Arg) c.398A>G (p.Lys133Arg) c.383A>G (p.Lys128Arg) c.233A>G (p.Lys78Arg) c.350A>G (p.Lys117Arg) c.*205A>G (n.*205A>G) c.422A>G (p.Lys141Arg) c.551A>G (p.Lys184Arg) | |
| 19 | g.13025367A>T | CA404314650 | NFIX | c.371A>T (p.Lys124Met) c.192A>T c.374A>T (p.Lys125Met) c.398A>T (p.Lys133Met) c.383A>T (p.Lys128Met) c.233A>T (p.Lys78Met) c.350A>T (p.Lys117Met) c.*205A>T (n.*205A>T) c.422A>T (p.Lys141Met) c.551A>T (p.Lys184Met) | COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13025368G>A | CA505780769 | NFIX | c.372G>A (p.Lys124=) c.193G>A c.375G>A (p.Lys125=) c.399G>A (p.Lys133=) c.384G>A (p.Lys128=) c.234G>A (p.Lys78=) c.351G>A (p.Lys117=) c.*206G>A (n.*206G>A) c.423G>A (p.Lys141=) c.552G>A (p.Lys184=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13025368G>C | CA404314653 | NFIX | c.372G>C (p.Lys124Asn) c.193G>C c.375G>C (p.Lys125Asn) c.399G>C (p.Lys133Asn) c.384G>C (p.Lys128Asn) c.234G>C (p.Lys78Asn) c.351G>C (p.Lys117Asn) c.*206G>C (n.*206G>C) c.423G>C (p.Lys141Asn) c.552G>C (p.Lys184Asn) | |
| 19 | g.13025368G= | CA2323688915 | NFIX | c.372G= (p.Lys124=) c.193G= c.375G= (p.Lys125=) c.399G= (p.Lys133=) c.384G= (p.Lys128=) c.234G= (p.Lys78=) c.351G= (p.Lys117=) c.*206G= (n.*206G=) c.423G= (p.Lys141=) c.552G= (p.Lys184=) | |
| 19 | g.13025368G>T | CA404314654 | NFIX | c.372G>T (p.Lys124Asn) c.193G>T c.375G>T (p.Lys125Asn) c.399G>T (p.Lys133Asn) c.384G>T (p.Lys128Asn) c.234G>T (p.Lys78Asn) c.351G>T (p.Lys117Asn) c.*206G>T (n.*206G>T) c.423G>T (p.Lys141Asn) c.552G>T (p.Lys184Asn) | |
| 19 | g.13025369G>A | CA404314657 | NFIX | c.373G>A (p.Val125Met) c.194G>A c.376G>A (p.Val126Met) c.400G>A (p.Val134Met) c.385G>A (p.Val129Met) c.234+1G>A (n.234+1G>A) c.352G>A (p.Val118Met) c.*207G>A (n.*207G>A) c.235G>A (p.Val79Met) c.424G>A (p.Val142Met) c.553G>A (p.Val185Met) | |
| 19 | g.13025369G>C | CA404314659 | NFIX | c.373G>C (p.Val125Leu) c.194G>C c.376G>C (p.Val126Leu) c.400G>C (p.Val134Leu) c.385G>C (p.Val129Leu) c.234+1G>C (n.234+1G>C) c.352G>C (p.Val118Leu) c.*207G>C (n.*207G>C) c.235G>C (p.Val79Leu) c.424G>C (p.Val142Leu) c.553G>C (p.Val185Leu) | |
| 19 | g.13025369G>T | CA404314663 | NFIX | c.373G>T (p.Val125Leu) c.194G>T c.376G>T (p.Val126Leu) c.400G>T (p.Val134Leu) c.385G>T (p.Val129Leu) c.234+1G>T (n.234+1G>T) c.352G>T (p.Val118Leu) c.*207G>T (n.*207G>T) c.235G>T (p.Val79Leu) c.424G>T (p.Val142Leu) c.553G>T (p.Val185Leu) | gnomAD v4 |
| 19 | g.13025370T>A | CA404314687 | NFIX | c.374T>A (p.Val125Glu) c.195T>A c.377T>A (p.Val126Glu) c.401T>A (p.Val134Glu) c.386T>A (p.Val129Glu) c.234+2T>A (n.234+2T>A) c.353T>A (p.Val118Glu) c.*208T>A (n.*208T>A) c.236T>A (p.Val79Glu) c.425T>A (p.Val142Glu) c.554T>A (p.Val185Glu) | |
| 19 | g.13025370T>C | CA404314684 | NFIX | c.374T>C (p.Val125Ala) c.195T>C c.377T>C (p.Val126Ala) c.401T>C (p.Val134Ala) c.386T>C (p.Val129Ala) c.234+2T>C (n.234+2T>C) c.353T>C (p.Val118Ala) c.*208T>C (n.*208T>C) c.236T>C (p.Val79Ala) c.425T>C (p.Val142Ala) c.554T>C (p.Val185Ala) | |
| 19 | g.13025370T>G | CA404314681 | NFIX | c.374T>G (p.Val125Gly) c.195T>G c.377T>G (p.Val126Gly) c.401T>G (p.Val134Gly) c.386T>G (p.Val129Gly) c.234+2T>G (n.234+2T>G) c.353T>G (p.Val118Gly) c.*208T>G (n.*208T>G) c.236T>G (p.Val79Gly) c.425T>G (p.Val142Gly) c.554T>G (p.Val185Gly) | |
| 19 | g.13025371G>A | CA505780770 | NFIX | c.375G>A (p.Val125=) c.196G>A c.378G>A (p.Val126=) c.402G>A (p.Val134=) c.387G>A (p.Val129=) c.234+3G>A (n.234+3G>A) c.354G>A (p.Val118=) c.*209G>A (n.*209G>A) c.237G>A (p.Val79=) c.426G>A (p.Val142=) c.555G>A (p.Val185=) | |
| 19 | g.13025371G>C | CA505780771 | NFIX | c.375G>C (p.Val125=) c.196G>C c.378G>C (p.Val126=) c.402G>C (p.Val134=) c.387G>C (p.Val129=) c.234+3G>C (n.234+3G>C) c.354G>C (p.Val118=) c.*209G>C (n.*209G>C) c.237G>C (p.Val79=) c.426G>C (p.Val142=) c.555G>C (p.Val185=) | |
| 19 | g.13025371G>T | CA505780772 | NFIX | c.375G>T (p.Val125=) c.196G>T c.378G>T (p.Val126=) c.402G>T (p.Val134=) c.387G>T (p.Val129=) c.234+3G>T (n.234+3G>T) c.354G>T (p.Val118=) c.*209G>T (n.*209G>T) c.237G>T (p.Val79=) c.426G>T (p.Val142=) c.555G>T (p.Val185=) | |
| 19 | g.13025372T>A | CA404314692 | NFIX | c.376T>A (p.Trp126Arg) c.197T>A c.379T>A (p.Trp127Arg) c.403T>A (p.Trp135Arg) c.388T>A (p.Trp130Arg) c.234+4T>A (n.234+4T>A) c.355T>A (p.Trp119Arg) c.*210T>A (n.*210T>A) c.238T>A (p.Trp80Arg) c.427T>A (p.Trp143Arg) c.556T>A (p.Trp186Arg) | |
| 19 | g.13025372T>C | CA404314697 | NFIX | c.376T>C (p.Trp126Arg) c.197T>C c.379T>C (p.Trp127Arg) c.403T>C (p.Trp135Arg) c.388T>C (p.Trp130Arg) c.234+4T>C (n.234+4T>C) c.355T>C (p.Trp119Arg) c.*210T>C (n.*210T>C) c.238T>C (p.Trp80Arg) c.427T>C (p.Trp143Arg) c.556T>C (p.Trp186Arg) | ClinVar dbSNP |
| 19 | g.13025372T>G | CA404314696 | NFIX | c.376T>G (p.Trp126Gly) c.197T>G c.379T>G (p.Trp127Gly) c.403T>G (p.Trp135Gly) c.388T>G (p.Trp130Gly) c.234+4T>G (n.234+4T>G) c.355T>G (p.Trp119Gly) c.*210T>G (n.*210T>G) c.238T>G (p.Trp80Gly) c.427T>G (p.Trp143Gly) c.556T>G (p.Trp186Gly) | |
| 19 | g.13025372T= | CA2323688916 | NFIX | c.376T= (p.Trp126=) c.197T= c.379T= (p.Trp127=) c.403T= (p.Trp135=) c.388T= (p.Trp130=) c.234+4T= (n.234+4T=) c.355T= (p.Trp119=) c.*210T= (n.*210T=) c.238T= (p.Trp80=) c.427T= (p.Trp143=) c.556T= (p.Trp186=) | |
| 19 | g.13025373G>A | CA404314698 | NFIX | c.377G>A (p.Trp126Ter) c.198G>A c.380G>A (p.Trp127Ter) c.404G>A (p.Trp135Ter) c.389G>A (p.Trp130Ter) c.234+5G>A (n.234+5G>A) c.356G>A (p.Trp119Ter) c.*211G>A (n.*211G>A) c.239G>A (p.Trp80Ter) c.428G>A (p.Trp143Ter) c.557G>A (p.Trp186Ter) | |
| 19 | g.13025373G>C | CA404314702 | NFIX | c.377G>C (p.Trp126Ser) c.198G>C c.380G>C (p.Trp127Ser) c.404G>C (p.Trp135Ser) c.389G>C (p.Trp130Ser) c.234+5G>C (n.234+5G>C) c.356G>C (p.Trp119Ser) c.*211G>C (n.*211G>C) c.239G>C (p.Trp80Ser) c.428G>C (p.Trp143Ser) c.557G>C (p.Trp186Ser) | |
| 19 | g.13025373G>T | CA404314701 | NFIX | c.377G>T (p.Trp126Leu) c.198G>T c.380G>T (p.Trp127Leu) c.404G>T (p.Trp135Leu) c.389G>T (p.Trp130Leu) c.234+5G>T (n.234+5G>T) c.356G>T (p.Trp119Leu) c.*211G>T (n.*211G>T) c.239G>T (p.Trp80Leu) c.428G>T (p.Trp143Leu) c.557G>T (p.Trp186Leu) | |
| 19 | g.13025374G>A | CA404314709 | NFIX | c.378G>A (p.Trp126Ter) c.199G>A c.381G>A (p.Trp127Ter) c.405G>A (p.Trp135Ter) c.390G>A (p.Trp130Ter) c.234+6G>A (n.234+6G>A) c.357G>A (p.Trp119Ter) c.*212G>A (n.*212G>A) c.240G>A (p.Trp80Ter) c.429G>A (p.Trp143Ter) c.558G>A (p.Trp186Ter) | |
| 19 | g.13025374G>C | CA404314715 | NFIX | c.378G>C (p.Trp126Cys) c.199G>C c.381G>C (p.Trp127Cys) c.405G>C (p.Trp135Cys) c.390G>C (p.Trp130Cys) c.234+6G>C (n.234+6G>C) c.357G>C (p.Trp119Cys) c.*212G>C (n.*212G>C) c.240G>C (p.Trp80Cys) c.429G>C (p.Trp143Cys) c.558G>C (p.Trp186Cys) | |
| 19 | g.13025374G>T | CA404314711 | NFIX | c.378G>T (p.Trp126Cys) c.199G>T c.381G>T (p.Trp127Cys) c.405G>T (p.Trp135Cys) c.390G>T (p.Trp130Cys) c.234+6G>T (n.234+6G>T) c.357G>T (p.Trp119Cys) c.*212G>T (n.*212G>T) c.240G>T (p.Trp80Cys) c.429G>T (p.Trp143Cys) c.558G>T (p.Trp186Cys) | ClinVar dbSNP |
| 19 | g.13025375C>A | CA505780776 | NFIX | c.379C>A (p.Arg127=) c.200C>A c.382C>A (p.Arg128=) c.406C>A (p.Arg136=) c.391C>A (p.Arg131=) c.234+7C>A (n.234+7C>A) c.358C>A (p.Arg120=) c.*213C>A (n.*213C>A) c.241C>A (p.Arg81=) c.430C>A (p.Arg144=) c.559C>A (p.Arg187=) | |
| 19 | g.13025375C= | CA2323688917 | NFIX | c.379C= (p.Arg127=) c.200C= c.382C= (p.Arg128=) c.406C= (p.Arg136=) c.391C= (p.Arg131=) c.234+7C= (n.234+7C=) c.358C= (p.Arg120=) c.*213C= (n.*213C=) c.241C= (p.Arg81=) c.430C= (p.Arg144=) c.559C= (p.Arg187=) | |
| 19 | g.13025375C>G | CA404314720 | NFIX | c.379C>G (p.Arg127Gly) c.200C>G c.382C>G (p.Arg128Gly) c.406C>G (p.Arg136Gly) c.391C>G (p.Arg131Gly) c.234+7C>G (n.234+7C>G) c.358C>G (p.Arg120Gly) c.*213C>G (n.*213C>G) c.241C>G (p.Arg81Gly) c.430C>G (p.Arg144Gly) c.559C>G (p.Arg187Gly) | |
| 19 | g.13025375C>T | CA404314723 | NFIX | c.379C>T (p.Arg127Trp) c.200C>T c.382C>T (p.Arg128Trp) c.406C>T (p.Arg136Trp) c.391C>T (p.Arg131Trp) c.234+7C>T (n.234+7C>T) c.358C>T (p.Arg120Trp) c.*213C>T (n.*213C>T) c.241C>T (p.Arg81Trp) c.430C>T (p.Arg144Trp) c.559C>T (p.Arg187Trp) | |
| 19 | g.13025376G>A | CA404314738 | NFIX | c.380G>A (p.Arg127Gln) c.201G>A c.383G>A (p.Arg128Gln) c.407G>A (p.Arg136Gln) c.392G>A (p.Arg131Gln) c.234+8G>A (n.234+8G>A) c.359G>A (p.Arg120Gln) c.*214G>A (n.*214G>A) c.242G>A (p.Arg81Gln) c.431G>A (p.Arg144Gln) c.560G>A (p.Arg187Gln) | ClinVar |
| 19 | g.13025376G>C | CA404314742 | NFIX | c.380G>C (p.Arg127Pro) c.201G>C c.383G>C (p.Arg128Pro) c.407G>C (p.Arg136Pro) c.392G>C (p.Arg131Pro) c.234+8G>C (n.234+8G>C) c.359G>C (p.Arg120Pro) c.*214G>C (n.*214G>C) c.242G>C (p.Arg81Pro) c.431G>C (p.Arg144Pro) c.560G>C (p.Arg187Pro) | dbSNP |
| 19 | g.13025376G>T | CA404314734 | NFIX | c.380G>T (p.Arg127Leu) c.201G>T c.383G>T (p.Arg128Leu) c.407G>T (p.Arg136Leu) c.392G>T (p.Arg131Leu) c.234+8G>T (n.234+8G>T) c.359G>T (p.Arg120Leu) c.*214G>T (n.*214G>T) c.242G>T (p.Arg81Leu) c.431G>T (p.Arg144Leu) c.560G>T (p.Arg187Leu) | COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13025377_13025378insGGGGGG | CA305548292 | NFIX | c.381_382insGGGGGG (p.Arg127_Leu128insGlyGly) c.202_203insGGGGGG c.384_385insGGGGGG (p.Arg128_Leu129insGlyGly) c.408_409insGGGGGG (p.Arg136_Leu137insGlyGly) c.393_394insGGGGGG (p.Arg131_Leu132insGlyGly) c.234+9_234+10insGGGGGG (n.234+9_234+10insGGGGGG) c.360_361insGGGGGG (p.Arg120_Leu121insGlyGly) c.*215_*216insGGGGGG (n.*215_*216insGGGGGG) c.243_244insGGGGGG (p.Arg81_Leu82insGlyGly) c.432_433insGGGGGG (p.Arg144_Leu145insGlyGly) c.561_562insGGGGGG (p.Arg187_Leu188insGlyGly) | dbSNP |
| 19 | g.13025377G>A | CA505780777 | NFIX | c.381G>A (p.Arg127=) c.202G>A c.384G>A (p.Arg128=) c.408G>A (p.Arg136=) c.393G>A (p.Arg131=) c.234+9G>A (n.234+9G>A) c.360G>A (p.Arg120=) c.*215G>A (n.*215G>A) c.243G>A (p.Arg81=) c.432G>A (p.Arg144=) c.561G>A (p.Arg187=) | ClinVar |
| 19 | g.13025377G>C | CA505780778 | NFIX | c.381G>C (p.Arg127=) c.202G>C c.384G>C (p.Arg128=) c.408G>C (p.Arg136=) c.393G>C (p.Arg131=) c.234+9G>C (n.234+9G>C) c.360G>C (p.Arg120=) c.*215G>C (n.*215G>C) c.243G>C (p.Arg81=) c.432G>C (p.Arg144=) c.561G>C (p.Arg187=) | |
| 19 | g.13025377G>T | CA505780779 | NFIX | c.381G>T (p.Arg127=) c.202G>T c.384G>T (p.Arg128=) c.408G>T (p.Arg136=) c.393G>T (p.Arg131=) c.234+9G>T (n.234+9G>T) c.360G>T (p.Arg120=) c.*215G>T (n.*215G>T) c.243G>T (p.Arg81=) c.432G>T (p.Arg144=) c.561G>T (p.Arg187=) | gnomAD v4 |
| 19 | g.13025378C>A | CA404314748 | NFIX | c.382C>A (p.Leu128Met) c.203C>A c.385C>A (p.Leu129Met) c.409C>A (p.Leu137Met) c.394C>A (p.Leu132Met) c.234+10C>A (n.234+10C>A) c.361C>A (p.Leu121Met) c.*216C>A (n.*216C>A) c.244C>A (p.Leu82Met) c.433C>A (p.Leu145Met) c.562C>A (p.Leu188Met) | |
| 19 | g.13025378C>G | CA404314751 | NFIX | c.382C>G (p.Leu128Val) c.203C>G c.385C>G (p.Leu129Val) c.409C>G (p.Leu137Val) c.394C>G (p.Leu132Val) c.234+10C>G (n.234+10C>G) c.361C>G (p.Leu121Val) c.*216C>G (n.*216C>G) c.244C>G (p.Leu82Val) c.433C>G (p.Leu145Val) c.562C>G (p.Leu188Val) | dbSNP |
| 19 | g.13025378C>T | CA505780781 | NFIX | c.382C>T (p.Leu128=) c.203C>T c.385C>T (p.Leu129=) c.409C>T (p.Leu137=) c.394C>T (p.Leu132=) c.234+10C>T (n.234+10C>T) c.361C>T (p.Leu121=) c.*216C>T (n.*216C>T) c.244C>T (p.Leu82=) c.433C>T (p.Leu145=) c.562C>T (p.Leu188=) | dbSNP |
| 19 | g.13025379T>A | CA404314758 | NFIX | c.383T>A (p.Leu128Gln) c.204T>A c.386T>A (p.Leu129Gln) c.410T>A (p.Leu137Gln) c.395T>A (p.Leu132Gln) c.234+11T>A (n.234+11T>A) c.362T>A (p.Leu121Gln) c.*217T>A (n.*217T>A) c.245T>A (p.Leu82Gln) c.434T>A (p.Leu145Gln) c.563T>A (p.Leu188Gln) | |
| 19 | g.13025379T>C | CA404314760 | NFIX | c.383T>C (p.Leu128Pro) c.204T>C c.386T>C (p.Leu129Pro) c.410T>C (p.Leu137Pro) c.395T>C (p.Leu132Pro) c.234+11T>C (n.234+11T>C) c.362T>C (p.Leu121Pro) c.*217T>C (n.*217T>C) c.245T>C (p.Leu82Pro) c.434T>C (p.Leu145Pro) c.563T>C (p.Leu188Pro) |