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 |
|---|---|---|---|---|---|
| 11 | g.2169634_2169678dup | CA597431668 | TH | c.286_312+18dup c.110_*1+18dup c.122_*1+18dup c.367_393+18dup c.379_405+18dup c.298_324+18dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169658C>A | CA5818730 | TH | c.304G>T (p.Val102Leu) c.128G>T (p.Gly43Val) c.140G>T (p.Gly47Val) c.385G>T (p.Val129Leu) c.397G>T (p.Val133Leu) c.316G>T (p.Val106Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169658C= | CA1948009442 | TH | c.304G= (p.Val102=) c.128G= (p.Gly43=) c.140G= (p.Gly47=) c.385G= (p.Val129=) c.397G= (p.Val133=) c.316G= (p.Val106=) | |
| 11 | g.2169658C>G | CA379112135 | TH | c.304G>C (p.Val102Leu) c.128G>C (p.Gly43Ala) c.140G>C (p.Gly47Ala) c.385G>C (p.Val129Leu) c.397G>C (p.Val133Leu) c.316G>C (p.Val106Leu) | |
| 11 | g.2169658C>T | CA379112136 | TH | c.304G>A (p.Val102Met) c.128G>A (p.Gly43Asp) c.140G>A (p.Gly47Asp) c.385G>A (p.Val129Met) c.397G>A (p.Val133Met) c.316G>A (p.Val106Met) | |
| 11 | g.2169659C>A | CA379112137 | TH | c.303G>T (p.Lys101Asn) c.127G>T (p.Gly43Cys) c.139G>T (p.Gly47Cys) c.384G>T (p.Lys128Asn) c.396G>T (p.Lys132Asn) c.315G>T (p.Lys105Asn) | |
| 11 | g.2169659C= | CA1948009444 | TH | c.303G= (p.Lys101=) c.127G= (p.Gly43=) c.139G= (p.Gly47=) c.384G= (p.Lys128=) c.396G= (p.Lys132=) c.315G= (p.Lys105=) | |
| 11 | g.2169659C>G | CA379112138 | TH | c.303G>C (p.Lys101Asn) c.127G>C (p.Gly43Arg) c.139G>C (p.Gly47Arg) c.384G>C (p.Lys128Asn) c.396G>C (p.Lys132Asn) c.315G>C (p.Lys105Asn) | |
| 11 | g.2169659C>T | CA5818731 | TH | c.303G>A (p.Lys101=) c.127G>A (p.Gly43Ser) c.139G>A (p.Gly47Ser) c.384G>A (p.Lys128=) c.396G>A (p.Lys132=) c.315G>A (p.Lys105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169660T>A | CA379112140 | TH | c.302A>T (p.Lys101Met) c.126A>T (p.Glu42Asp) c.138A>T (p.Glu46Asp) c.383A>T (p.Lys128Met) c.395A>T (p.Lys132Met) c.314A>T (p.Lys105Met) | |
| 11 | g.2169660T>C | CA379112141 | TH | c.302A>G (p.Lys101Arg) c.126A>G (p.Glu42=) c.138A>G (p.Glu46=) c.383A>G (p.Lys128Arg) c.395A>G (p.Lys132Arg) c.314A>G (p.Lys105Arg) | ClinVar dbSNP gnomAD v2 |
| 11 | g.2169660T>G | CA379112139 | TH | c.302A>C (p.Lys101Thr) c.126A>C (p.Glu42Asp) c.138A>C (p.Glu46Asp) c.383A>C (p.Lys128Thr) c.395A>C (p.Lys132Thr) c.314A>C (p.Lys105Thr) | gnomAD v4 |
| 11 | g.2169660T= | CA1948009447 | TH | c.302A= (p.Lys101=) c.126A= (p.Glu42=) c.138A= (p.Glu46=) c.383A= (p.Lys128=) c.395A= (p.Lys132=) c.314A= (p.Lys105=) | |
| 11 | g.2169661T>A | CA379112144 | TH | c.301A>T (p.Lys101Ter) c.125A>T (p.Glu42Val) c.137A>T (p.Glu46Val) c.382A>T (p.Lys128Ter) c.394A>T (p.Lys132Ter) c.313A>T (p.Lys105Ter) | |
| 11 | g.2169661T>C | CA379112142 | TH | c.301A>G (p.Lys101Glu) c.125A>G (p.Glu42Gly) c.137A>G (p.Glu46Gly) c.382A>G (p.Lys128Glu) c.394A>G (p.Lys132Glu) c.313A>G (p.Lys105Glu) | |
| 11 | g.2169661T>G | CA379112143 | TH | c.301A>C (p.Lys101Gln) c.125A>C (p.Glu42Ala) c.137A>C (p.Glu46Ala) c.382A>C (p.Lys128Gln) c.394A>C (p.Lys132Gln) c.313A>C (p.Lys105Gln) | |
| 11 | g.2169662C>A | CA472018731 | TH | c.300G>T (p.Val100=) c.124G>T (p.Glu42Ter) c.136G>T (p.Glu46Ter) c.381G>T (p.Val127=) c.393G>T (p.Val131=) c.312G>T (p.Val104=) | |
| 11 | g.2169662C>G | CA472018732 | TH | c.300G>C (p.Val100=) c.124G>C (p.Glu42Gln) c.136G>C (p.Glu46Gln) c.381G>C (p.Val127=) c.393G>C (p.Val131=) c.312G>C (p.Val104=) | |
| 11 | g.2169662C>T | CA472018733 | TH | c.300G>A (p.Val100=) c.124G>A (p.Glu42Lys) c.136G>A (p.Glu46Lys) c.381G>A (p.Val127=) c.393G>A (p.Val131=) c.312G>A (p.Val104=) | |
| 11 | g.2169663A>C | CA379112145 | TH | c.299T>G (p.Val100Gly) c.123T>G (p.Cys41Trp) c.135T>G (p.Cys45Trp) c.380T>G (p.Val127Gly) c.392T>G (p.Val131Gly) c.311T>G (p.Val104Gly) | |
| 11 | g.2169663A>G | CA379112146 | TH | c.299T>C (p.Val100Ala) c.123T>C (p.Cys41=) c.135T>C (p.Cys45=) c.380T>C (p.Val127Ala) c.392T>C (p.Val131Ala) c.311T>C (p.Val104Ala) | |
| 11 | g.2169663A>T | CA379112147 | TH | c.299T>A (p.Val100Glu) c.123T>A (p.Cys41Ter) c.135T>A (p.Cys45Ter) c.380T>A (p.Val127Glu) c.392T>A (p.Val131Glu) c.311T>A (p.Val104Glu) | |
| 11 | g.2169664C>A | CA379112150 | TH | c.298G>T (p.Val100Leu) c.122G>T (p.Cys41Phe) c.134G>T (p.Cys45Phe) c.379G>T (p.Val127Leu) c.391G>T (p.Val131Leu) c.310G>T (p.Val104Leu) | |
| 11 | g.2169664C= | CA1948009449 | TH | c.298G= (p.Val100=) c.122G= (p.Cys41=) c.134G= (p.Cys45=) c.379G= (p.Val127=) c.391G= (p.Val131=) c.310G= (p.Val104=) | |
| 11 | g.2169664C>G | CA379112149 | TH | c.298G>C (p.Val100Leu) c.122G>C (p.Cys41Ser) c.134G>C (p.Cys45Ser) c.379G>C (p.Val127Leu) c.391G>C (p.Val131Leu) c.310G>C (p.Val104Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2169664C>T | CA379112148 | TH | c.298G>A (p.Val100Met) c.122G>A (p.Cys41Tyr) c.134G>A (p.Cys45Tyr) c.379G>A (p.Val127Met) c.391G>A (p.Val131Met) c.310G>A (p.Val104Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169665A= | CA1948009451 | TH | c.297T= (p.Ala99=) c.121T= (p.Cys41=) c.133T= (p.Cys45=) c.378T= (p.Ala126=) c.390T= (p.Ala130=) c.309T= (p.Ala103=) | |
| 11 | g.2169665A>C | CA472018735 | TH | c.297T>G (p.Ala99=) c.121T>G (p.Cys41Gly) c.133T>G (p.Cys45Gly) c.378T>G (p.Ala126=) c.390T>G (p.Ala130=) c.309T>G (p.Ala103=) | |
| 11 | g.2169665A>G | CA216227540 | TH | c.297T>C (p.Ala99=) c.121T>C (p.Cys41Arg) c.133T>C (p.Cys45Arg) c.378T>C (p.Ala126=) c.390T>C (p.Ala130=) c.309T>C (p.Ala103=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169665A>T | CA472018734 | TH | c.297T>A (p.Ala99=) c.121T>A (p.Cys41Ser) c.133T>A (p.Cys45Ser) c.378T>A (p.Ala126=) c.390T>A (p.Ala130=) c.309T>A (p.Ala103=) | |
| 11 | g.2169665dup | CA912971947 | TH | c.297dup (p.Val100CysfsTer5) c.121dup (p.Cys41LeufsTer2) c.133dup (p.Cys45LeufsTer2) c.378dup (p.Val127CysfsTer5) c.390dup (p.Val131CysfsTer5) c.309dup (p.Val104CysfsTer5) | |
| 11 | g.2169666G>A | CA379112151 | TH | c.296C>T (p.Ala99Val) c.120C>T (p.Ser40=) c.132C>T (p.Ser44=) c.377C>T (p.Ala126Val) c.389C>T (p.Ala130Val) c.308C>T (p.Ala103Val) | |
| 11 | g.2169666G>C | CA379112152 | TH | c.296C>G (p.Ala99Gly) c.120C>G (p.Ser40Arg) c.132C>G (p.Ser44Arg) c.377C>G (p.Ala126Gly) c.389C>G (p.Ala130Gly) c.308C>G (p.Ala103Gly) | gnomAD v4 |
| 11 | g.2169666G= | CA1948009455 | TH | c.296C= (p.Ala99=) c.120C= (p.Ser40=) c.132C= (p.Ser44=) c.377C= (p.Ala126=) c.389C= (p.Ala130=) c.308C= (p.Ala103=) | |
| 11 | g.2169666G>T | CA379112153 | TH | c.296C>A (p.Ala99Asp) c.120C>A (p.Ser40Arg) c.132C>A (p.Ser44Arg) c.377C>A (p.Ala126Asp) c.389C>A (p.Ala130Asp) c.308C>A (p.Ala103Asp) | dbSNP gnomAD v4 |
| 11 | g.2169669_2169687dup | CA658821339 | TH | c.278_296dup (p.Val100LeufsTer11) c.102_120dup (p.Cys41ProfsTer8) c.114_132dup (p.Cys45ProfsTer8) c.359_377dup (p.Val127LeufsTer11) c.371_389dup (p.Val131LeufsTer11) c.290_308dup (p.Val104LeufsTer11) | ClinVar dbSNP |
| 11 | g.2169667C>A | CA379112154 | TH | c.295G>T (p.Ala99Ser) c.119G>T (p.Ser40Ile) c.131G>T (p.Ser44Ile) c.376G>T (p.Ala126Ser) c.388G>T (p.Ala130Ser) c.307G>T (p.Ala103Ser) | |
| 11 | g.2169667C= | CA1948009459 | TH | c.295G= (p.Ala99=) c.119G= (p.Ser40=) c.131G= (p.Ser44=) c.376G= (p.Ala126=) c.388G= (p.Ala130=) c.307G= (p.Ala103=) | |
| 11 | g.2169667C>G | CA379112155 | TH | c.295G>C (p.Ala99Pro) c.119G>C (p.Ser40Thr) c.131G>C (p.Ser44Thr) c.376G>C (p.Ala126Pro) c.388G>C (p.Ala130Pro) c.307G>C (p.Ala103Pro) | dbSNP |
| 11 | g.2169667C>T | CA379112156 | TH | c.295G>A (p.Ala99Thr) c.119G>A (p.Ser40Asn) c.131G>A (p.Ser44Asn) c.376G>A (p.Ala126Thr) c.388G>A (p.Ala130Thr) c.307G>A (p.Ala103Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2169667_2169669dup | CA915948014 | TH | c.293_295dup (p.Arg98_Ala99insGly) c.117_119dup (p.Pro39_Ser40insArg) c.129_131dup (p.Pro43_Ser44insArg) c.374_376dup (p.Arg125_Ala126insGly) c.386_388dup (p.Arg129_Ala130insGly) c.305_307dup (p.Arg102_Ala103insGly) | ClinVar dbSNP |
| 11 | g.2169668T>A | CA472018737 | TH | c.294A>T (p.Arg98=) c.118A>T (p.Ser40Cys) c.130A>T (p.Ser44Cys) c.375A>T (p.Arg125=) c.387A>T (p.Arg129=) c.306A>T (p.Arg102=) | |
| 11 | g.2169668T>C | CA472018738 | TH | c.294A>G (p.Arg98=) c.118A>G (p.Ser40Gly) c.130A>G (p.Ser44Gly) c.375A>G (p.Arg125=) c.387A>G (p.Arg129=) c.306A>G (p.Arg102=) | |
| 11 | g.2169668T>G | CA472018739 | TH | c.294A>C (p.Arg98=) c.118A>C (p.Ser40Arg) c.130A>C (p.Ser44Arg) c.375A>C (p.Arg125=) c.387A>C (p.Arg129=) c.306A>C (p.Arg102=) | |
| 11 | g.2169669C>A | CA379112157 | TH | c.293G>T (p.Arg98Leu) c.117G>T (p.Pro39=) c.129G>T (p.Pro43=) c.374G>T (p.Arg125Leu) c.386G>T (p.Arg129Leu) c.305G>T (p.Arg102Leu) | |
| 11 | g.2169669C= | CA1948009462 | TH | c.293G= (p.Arg98=) c.117G= (p.Pro39=) c.129G= (p.Pro43=) c.374G= (p.Arg125=) c.386G= (p.Arg129=) c.305G= (p.Arg102=) | |
| 11 | g.2169669C>G | CA5818733 | TH | c.293G>C (p.Arg98Pro) c.117G>C (p.Pro39=) c.129G>C (p.Pro43=) c.374G>C (p.Arg125Pro) c.386G>C (p.Arg129Pro) c.305G>C (p.Arg102Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169669C>T | CA5818732 | TH | c.293G>A (p.Arg98Gln) c.117G>A (p.Pro39=) c.129G>A (p.Pro43=) c.374G>A (p.Arg125Gln) c.386G>A (p.Arg129Gln) c.305G>A (p.Arg102Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169670G>A | CA16043869 | TH | c.292C>T (p.Arg98Ter) c.116C>T (p.Pro39Leu) c.128C>T (p.Pro43Leu) c.373C>T (p.Arg125Ter) c.385C>T (p.Arg129Ter) c.304C>T (p.Arg102Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169670G>C | CA379112158 | TH | c.292C>G (p.Arg98Gly) c.116C>G (p.Pro39Arg) c.128C>G (p.Pro43Arg) c.373C>G (p.Arg125Gly) c.385C>G (p.Arg129Gly) c.304C>G (p.Arg102Gly) | gnomAD v4 |
| 11 | g.2169670G= | CA1948009465 | TH | c.292C= (p.Arg98=) c.116C= (p.Pro39=) c.128C= (p.Pro43=) c.373C= (p.Arg125=) c.385C= (p.Arg129=) c.304C= (p.Arg102=) | |
| 11 | g.2169670G>T | CA472018741 | TH | c.292C>A (p.Arg98=) c.116C>A (p.Pro39Gln) c.128C>A (p.Pro43Gln) c.373C>A (p.Arg125=) c.385C>A (p.Arg129=) c.304C>A (p.Arg102=) | gnomAD v4 |
| 11 | g.2169671_2169672del | CA2580082699 | TH | c.291_292del (p.Arg98SerfsTer6) c.115_116del (p.Pro39GlufsTer3) c.127_128del (p.Pro43GlufsTer3) c.372_373del (p.Arg125SerfsTer6) c.384_385del (p.Arg129SerfsTer6) c.303_304del (p.Arg102SerfsTer6) | ClinVar |
| 11 | g.2169671G>A | CA472018742 | TH | c.291C>T (p.Ser97=) c.115C>T (p.Pro39Ser) c.127C>T (p.Pro43Ser) c.372C>T (p.Ser124=) c.384C>T (p.Ser128=) c.303C>T (p.Ser101=) | gnomAD v4 |
| 11 | g.2169671G>C | CA5818734 | TH | c.291C>G (p.Ser97=) c.115C>G (p.Pro39Ala) c.127C>G (p.Pro43Ala) c.372C>G (p.Ser124=) c.384C>G (p.Ser128=) c.303C>G (p.Ser101=) | dbSNP ExAC gnomAD v2 |
| 11 | g.2169671G= | CA1948009467 | TH | c.291C= (p.Ser97=) c.115C= (p.Pro39=) c.127C= (p.Pro43=) c.372C= (p.Ser124=) c.384C= (p.Ser128=) c.303C= (p.Ser101=) | |
| 11 | g.2169671G>T | CA472018745 | TH | c.291C>A (p.Ser97=) c.115C>A (p.Pro39Thr) c.127C>A (p.Pro43Thr) c.372C>A (p.Ser124=) c.384C>A (p.Ser128=) c.303C>A (p.Ser101=) | |
| 11 | g.2169672G>A | CA379112159 | TH | c.290C>T (p.Ser97Phe) c.114C>T (p.Val38=) c.126C>T (p.Val42=) c.371C>T (p.Ser124Phe) c.383C>T (p.Ser128Phe) c.302C>T (p.Ser101Phe) | |
| 11 | g.2169672G>C | CA379112160 | TH | c.290C>G (p.Ser97Cys) c.114C>G (p.Val38=) c.126C>G (p.Val42=) c.371C>G (p.Ser124Cys) c.383C>G (p.Ser128Cys) c.302C>G (p.Ser101Cys) | |
| 11 | g.2169672G>T | CA379112161 | TH | c.290C>A (p.Ser97Tyr) c.114C>A (p.Val38=) c.126C>A (p.Val42=) c.371C>A (p.Ser124Tyr) c.383C>A (p.Ser128Tyr) c.302C>A (p.Ser101Tyr) | gnomAD v4 |
| 11 | g.2169673A>C | CA379112162 | TH | c.289T>G (p.Ser97Ala) c.113T>G (p.Val38Gly) c.125T>G (p.Val42Gly) c.370T>G (p.Ser124Ala) c.382T>G (p.Ser128Ala) c.301T>G (p.Ser101Ala) | |
| 11 | g.2169673A>G | CA379112163 | TH | c.289T>C (p.Ser97Pro) c.113T>C (p.Val38Ala) c.125T>C (p.Val42Ala) c.370T>C (p.Ser124Pro) c.382T>C (p.Ser128Pro) c.301T>C (p.Ser101Pro) | |
| 11 | g.2169673A>T | CA379112164 | TH | c.289T>A (p.Ser97Thr) c.113T>A (p.Val38Asp) c.125T>A (p.Val42Asp) c.370T>A (p.Ser124Thr) c.382T>A (p.Ser128Thr) c.301T>A (p.Ser101Thr) | |
| 11 | g.2169674C>A | CA472018748 | TH | c.288G>T (p.Leu96=) c.112G>T (p.Val38Phe) c.124G>T (p.Val42Phe) c.369G>T (p.Leu123=) c.381G>T (p.Leu127=) c.300G>T (p.Leu100=) | |
| 11 | g.2169674C= | CA1948009470 | TH | c.288G= (p.Leu96=) c.112G= (p.Val38=) c.124G= (p.Val42=) c.369G= (p.Leu123=) c.381G= (p.Leu127=) c.300G= (p.Leu100=) | |
| 11 | g.2169674C>G | CA5818735 | TH | c.288G>C (p.Leu96=) c.112G>C (p.Val38Leu) c.124G>C (p.Val42Leu) c.369G>C (p.Leu123=) c.381G>C (p.Leu127=) c.300G>C (p.Leu100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169674C>T | CA472018749 | TH | c.288G>A (p.Leu96=) c.112G>A (p.Val38Ile) c.124G>A (p.Val42Ile) c.369G>A (p.Leu123=) c.381G>A (p.Leu127=) c.300G>A (p.Leu100=) | |
| 11 | g.2169675A>C | CA379112165 | TH | c.287T>G (p.Leu96Arg) c.111T>G (p.Ala37=) c.123T>G (p.Ala41=) c.368T>G (p.Leu123Arg) c.380T>G (p.Leu127Arg) c.299T>G (p.Leu100Arg) | |
| 11 | g.2169675A>G | CA379112166 | TH | c.287T>C (p.Leu96Pro) c.111T>C (p.Ala37=) c.123T>C (p.Ala41=) c.368T>C (p.Leu123Pro) c.380T>C (p.Leu127Pro) c.299T>C (p.Leu100Pro) | |
| 11 | g.2169675A>T | CA379112167 | TH | c.287T>A (p.Leu96Gln) c.111T>A (p.Ala37=) c.123T>A (p.Ala41=) c.368T>A (p.Leu123Gln) c.380T>A (p.Leu127Gln) c.299T>A (p.Leu100Gln) | |
| 11 | g.2169676G>A | CA5818736 | TH | c.286C>T (p.Leu96=) c.110C>T (p.Ala37Val) c.122C>T (p.Ala41Val) c.367C>T (p.Leu123=) c.379C>T (p.Leu127=) c.298C>T (p.Leu100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2169676G>C | CA379112169 | TH | c.286C>G (p.Leu96Val) c.110C>G (p.Ala37Gly) c.122C>G (p.Ala41Gly) c.367C>G (p.Leu123Val) c.379C>G (p.Leu127Val) c.298C>G (p.Leu100Val) | |
| 11 | g.2169676G= | CA1948009472 | TH | c.286C= (p.Leu96=) c.110C= (p.Ala37=) c.122C= (p.Ala41=) c.367C= (p.Leu123=) c.379C= (p.Leu127=) c.298C= (p.Leu100=) | |
| 11 | g.2169676G>T | CA379112168 | TH | c.286C>A (p.Leu96Met) c.110C>A (p.Ala37Asp) c.122C>A (p.Ala41Asp) c.367C>A (p.Leu123Met) c.379C>A (p.Leu127Met) c.298C>A (p.Leu100Met) | |
| 11 | g.2169677C>A | CA472018755 | TH | c.285G>T (p.Ala95=) c.109G>T (p.Ala37Ser) c.121G>T (p.Ala41Ser) c.366G>T (p.Ala122=) c.378G>T (p.Ala126=) c.297G>T (p.Ala99=) | |
| 11 | g.2169677C= | CA1948009475 | TH | c.285G= (p.Ala95=) c.109G= (p.Ala37=) c.121G= (p.Ala41=) c.366G= (p.Ala122=) c.378G= (p.Ala126=) c.297G= (p.Ala99=) | |
| 11 | g.2169677C>G | CA472018753 | TH | c.285G>C (p.Ala95=) c.109G>C (p.Ala37Pro) c.121G>C (p.Ala41Pro) c.366G>C (p.Ala122=) c.378G>C (p.Ala126=) c.297G>C (p.Ala99=) | |
| 11 | g.2169677C>T | CA5818737 | TH | c.285G>A (p.Ala95=) c.109G>A (p.Ala37Thr) c.121G>A (p.Ala41Thr) c.366G>A (p.Ala122=) c.378G>A (p.Ala126=) c.297G>A (p.Ala99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169678G>A | CA5818739 | TH | c.284C>T (p.Ala95Val) c.108C>T (p.Gly36=) c.120C>T (p.Gly40=) c.365C>T (p.Ala122Val) c.377C>T (p.Ala126Val) c.296C>T (p.Ala99Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2169678G>C | CA5818738 | TH | c.284C>G (p.Ala95Gly) c.108C>G (p.Gly36=) c.120C>G (p.Gly40=) c.365C>G (p.Ala122Gly) c.377C>G (p.Ala126Gly) c.296C>G (p.Ala99Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169678G= | CA1948009478 | TH | c.284C= (p.Ala95=) c.108C= (p.Gly36=) c.120C= (p.Gly40=) c.365C= (p.Ala122=) c.377C= (p.Ala126=) c.296C= (p.Ala99=) | |
| 11 | g.2169678G>T | CA5818740 | TH | c.284C>A (p.Ala95Glu) c.108C>A (p.Gly36=) c.120C>A (p.Gly40=) c.365C>A (p.Ala122Glu) c.377C>A (p.Ala126Glu) c.296C>A (p.Ala99Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169678_2169679delinsGC | CA1948009479 | TH | c.283_284delinsGC (p.Ala95=) c.107_108delinsGC (p.Gly36=) c.119_120delinsGC (p.Gly40=) c.364_365delinsGC (p.Ala122=) c.376_377delinsGC (p.Ala126=) c.295_296delinsGC (p.Ala99=) | |
| 11 | g.2169679C>A | CA379112170 | TH | c.283G>T (p.Ala95Ser) c.107G>T (p.Gly36Val) c.119G>T (p.Gly40Val) c.364G>T (p.Ala122Ser) c.376G>T (p.Ala126Ser) c.295G>T (p.Ala99Ser) | |
| 11 | g.2169679C>G | CA379112171 | TH | c.283G>C (p.Ala95Pro) c.107G>C (p.Gly36Ala) c.119G>C (p.Gly40Ala) c.364G>C (p.Ala122Pro) c.376G>C (p.Ala126Pro) c.295G>C (p.Ala99Pro) | |
| 11 | g.2169679C>T | CA379112172 | TH | c.283G>A (p.Ala95Thr) c.107G>A (p.Gly36Asp) c.119G>A (p.Gly40Asp) c.364G>A (p.Ala122Thr) c.376G>A (p.Ala126Thr) c.295G>A (p.Ala99Thr) | gnomAD v4 |
| 11 | g.2169680del | CA278537 | TH | c.283del (p.Ala95ArgfsTer6) c.107del (p.Gly36AlafsTer?) c.119del (p.Gly40AlafsTer?) c.364del (p.Ala122ArgfsTer6) c.376del (p.Ala126ArgfsTer6) c.295del (p.Ala99ArgfsTer6) | ClinVar dbSNP |
| 11 | g.2169680C>A | CA472018758 | TH | c.282G>T (p.Ser94=) c.106G>T (p.Gly36Cys) c.118G>T (p.Gly40Cys) c.363G>T (p.Ser121=) c.375G>T (p.Ser125=) c.294G>T (p.Ser98=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2169680C= | CA1948009486 | TH | c.282G= (p.Ser94=) c.106G= (p.Gly36=) c.118G= (p.Gly40=) c.363G= (p.Ser121=) c.375G= (p.Ser125=) c.294G= (p.Ser98=) | |
| 11 | g.2169680C>G | CA5818741 | TH | c.282G>C (p.Ser94=) c.106G>C (p.Gly36Arg) c.118G>C (p.Gly40Arg) c.363G>C (p.Ser121=) c.375G>C (p.Ser125=) c.294G>C (p.Ser98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169680C>T | CA5818742 | TH | c.282G>A (p.Ser94=) c.106G>A (p.Gly36Ser) c.118G>A (p.Gly40Ser) c.363G>A (p.Ser121=) c.375G>A (p.Ser125=) c.294G>A (p.Ser98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169681G>A | CA5818743 | TH | c.281C>T (p.Ser94Leu) c.105C>T (p.Leu35=) c.117C>T (p.Leu39=) c.362C>T (p.Ser121Leu) c.374C>T (p.Ser125Leu) c.293C>T (p.Ser98Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169681G>C | CA379112173 | TH | c.281C>G (p.Ser94Trp) c.105C>G (p.Leu35=) c.117C>G (p.Leu39=) c.362C>G (p.Ser121Trp) c.374C>G (p.Ser125Trp) c.293C>G (p.Ser98Trp) | gnomAD v4 |
| 11 | g.2169681G= | CA1948009491 | TH | c.281C= (p.Ser94=) c.105C= (p.Leu35=) c.117C= (p.Leu39=) c.362C= (p.Ser121=) c.374C= (p.Ser125=) c.293C= (p.Ser98=) | |
| 11 | g.2169681G>T | CA379112174 | TH | c.281C>A (p.Ser94Ter) c.105C>A (p.Leu35=) c.117C>A (p.Leu39=) c.362C>A (p.Ser121Ter) c.374C>A (p.Ser125Ter) c.293C>A (p.Ser98Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.2169682A= | CA1948009495 | TH | c.280T= (p.Ser94=) c.104T= (p.Leu35=) c.116T= (p.Leu39=) c.361T= (p.Ser121=) c.373T= (p.Ser125=) c.292T= (p.Ser98=) | |
| 11 | g.2169682A>C | CA379112176 | TH | c.280T>G (p.Ser94Ala) c.104T>G (p.Leu35Arg) c.116T>G (p.Leu39Arg) c.361T>G (p.Ser121Ala) c.373T>G (p.Ser125Ala) c.292T>G (p.Ser98Ala) | |
| 11 | g.2169682A>G | CA379112175 | TH | c.280T>C (p.Ser94Pro) c.104T>C (p.Leu35Pro) c.116T>C (p.Leu39Pro) c.361T>C (p.Ser121Pro) c.373T>C (p.Ser125Pro) c.292T>C (p.Ser98Pro) | |
| 11 | g.2169682A>T | CA216227570 | TH | c.280T>A (p.Ser94Thr) c.104T>A (p.Leu35His) c.116T>A (p.Leu39His) c.361T>A (p.Ser121Thr) c.373T>A (p.Ser125Thr) c.292T>A (p.Ser98Thr) | dbSNP |
| 11 | g.2169683G>A | CA472018762 | TH | c.279C>T (p.Pro93=) c.103C>T (p.Leu35Phe) c.115C>T (p.Leu39Phe) c.360C>T (p.Pro120=) c.372C>T (p.Pro124=) c.291C>T (p.Pro97=) | |
| 11 | g.2169683G>C | CA472018763 | TH | c.279C>G (p.Pro93=) c.103C>G (p.Leu35Val) c.115C>G (p.Leu39Val) c.360C>G (p.Pro120=) c.372C>G (p.Pro124=) c.291C>G (p.Pro97=) | ClinVar |
| 11 | g.2169683G>T | CA472018764 | TH | c.279C>A (p.Pro93=) c.103C>A (p.Leu35Ile) c.115C>A (p.Leu39Ile) c.360C>A (p.Pro120=) c.372C>A (p.Pro124=) c.291C>A (p.Pro97=) | |
| 11 | g.2169684G>A | CA379112177 | TH | c.278C>T (p.Pro93Leu) c.102C>T (p.Ala34=) c.114C>T (p.Ala38=) c.359C>T (p.Pro120Leu) c.371C>T (p.Pro124Leu) c.290C>T (p.Pro97Leu) | |
| 11 | g.2169684G>C | CA379112178 | TH | c.278C>G (p.Pro93Arg) c.102C>G (p.Ala34=) c.114C>G (p.Ala38=) c.359C>G (p.Pro120Arg) c.371C>G (p.Pro124Arg) c.290C>G (p.Pro97Arg) | |
| 11 | g.2169684G>T | CA379112179 | TH | c.278C>A (p.Pro93His) c.102C>A (p.Ala34=) c.114C>A (p.Ala38=) c.359C>A (p.Pro120His) c.371C>A (p.Pro124His) c.290C>A (p.Pro97His) | |
| 11 | g.2169685G>A | CA379112180 | TH | c.277C>T (p.Pro93Ser) c.101C>T (p.Ala34Val) c.113C>T (p.Ala38Val) c.358C>T (p.Pro120Ser) c.370C>T (p.Pro124Ser) c.289C>T (p.Pro97Ser) | gnomAD v4 |
| 11 | g.2169685G>C | CA379112181 | TH | c.277C>G (p.Pro93Ala) c.101C>G (p.Ala34Gly) c.113C>G (p.Ala38Gly) c.358C>G (p.Pro120Ala) c.370C>G (p.Pro124Ala) c.289C>G (p.Pro97Ala) | |
| 11 | g.2169685G>T | CA379112182 | TH | c.277C>A (p.Pro93Thr) c.101C>A (p.Ala34Asp) c.113C>A (p.Ala38Asp) c.358C>A (p.Pro120Thr) c.370C>A (p.Pro124Thr) c.289C>A (p.Pro97Thr) | |
| 11 | g.2169686C>A | CA379112183 | TH | c.276G>T (p.Lys92Asn) c.100G>T (p.Ala34Ser) c.112G>T (p.Ala38Ser) c.357G>T (p.Lys119Asn) c.369G>T (p.Lys123Asn) c.288G>T (p.Lys96Asn) | |
| 11 | g.2169686C= | CA1948009497 | TH | c.276G= (p.Lys92=) c.100G= (p.Ala34=) c.112G= (p.Ala38=) c.357G= (p.Lys119=) c.369G= (p.Lys123=) c.288G= (p.Lys96=) | |
| 11 | g.2169686C>G | CA379112184 | TH | c.276G>C (p.Lys92Asn) c.100G>C (p.Ala34Pro) c.112G>C (p.Ala38Pro) c.357G>C (p.Lys119Asn) c.369G>C (p.Lys123Asn) c.288G>C (p.Lys96Asn) | |
| 11 | g.2169686C>T | CA472018768 | TH | c.276G>A (p.Lys92=) c.100G>A (p.Ala34Thr) c.112G>A (p.Ala38Thr) c.357G>A (p.Lys119=) c.369G>A (p.Lys123=) c.288G>A (p.Lys96=) | dbSNP |
| 11 | g.2169687T>A | CA379112185 | TH | c.275A>T (p.Lys92Met) c.99A>T (p.Gln33His) c.111A>T (p.Gln37His) c.356A>T (p.Lys119Met) c.368A>T (p.Lys123Met) c.287A>T (p.Lys96Met) | |
| 11 | g.2169687T>C | CA379112186 | TH | c.275A>G (p.Lys92Arg) c.99A>G (p.Gln33=) c.111A>G (p.Gln37=) c.356A>G (p.Lys119Arg) c.368A>G (p.Lys123Arg) c.287A>G (p.Lys96Arg) | |
| 11 | g.2169687T>G | CA379112187 | TH | c.275A>C (p.Lys92Thr) c.99A>C (p.Gln33His) c.111A>C (p.Gln37His) c.356A>C (p.Lys119Thr) c.368A>C (p.Lys123Thr) c.287A>C (p.Lys96Thr) | |
| 11 | g.2169688T>A | CA379112190 | TH | c.274A>T (p.Lys92Ter) c.98A>T (p.Gln33Leu) c.110A>T (p.Gln37Leu) c.355A>T (p.Lys119Ter) c.367A>T (p.Lys123Ter) c.286A>T (p.Lys96Ter) | |
| 11 | g.2169688T>C | CA379112189 | TH | c.274A>G (p.Lys92Glu) c.98A>G (p.Gln33Arg) c.110A>G (p.Gln37Arg) c.355A>G (p.Lys119Glu) c.367A>G (p.Lys123Glu) c.286A>G (p.Lys96Glu) | |
| 11 | g.2169688T>G | CA379112188 | TH | c.274A>C (p.Lys92Gln) c.98A>C (p.Gln33Pro) c.110A>C (p.Gln37Pro) c.355A>C (p.Lys119Gln) c.367A>C (p.Lys123Gln) c.286A>C (p.Lys96Gln) | |
| 11 | g.2169689G>A | CA472018772 | TH | c.273C>T (p.Thr91=) c.97C>T (p.Gln33Ter) c.109C>T (p.Gln37Ter) c.354C>T (p.Thr118=) c.366C>T (p.Thr122=) c.285C>T (p.Thr95=) | |
| 11 | g.2169689G>C | CA472018773 | TH | c.273C>G (p.Thr91=) c.97C>G (p.Gln33Glu) c.109C>G (p.Gln37Glu) c.354C>G (p.Thr118=) c.366C>G (p.Thr122=) c.285C>G (p.Thr95=) | |
| 11 | g.2169689G>T | CA472018774 | TH | c.273C>A (p.Thr91=) c.97C>A (p.Gln33Lys) c.109C>A (p.Gln37Lys) c.354C>A (p.Thr118=) c.366C>A (p.Thr122=) c.285C>A (p.Thr95=) | COSMIC |
| 11 | g.2169690G>A | CA379112191 | TH | c.272C>T (p.Thr91Ile) c.96C>T (p.His32=) c.108C>T (p.His36=) c.353C>T (p.Thr118Ile) c.365C>T (p.Thr122Ile) c.284C>T (p.Thr95Ile) | |
| 11 | g.2169690G>C | CA379112193 | TH | c.272C>G (p.Thr91Ser) c.96C>G (p.His32Gln) c.108C>G (p.His36Gln) c.353C>G (p.Thr118Ser) c.365C>G (p.Thr122Ser) c.284C>G (p.Thr95Ser) | |
| 11 | g.2169690G>T | CA379112192 | TH | c.272C>A (p.Thr91Asn) c.96C>A (p.His32Gln) c.108C>A (p.His36Gln) c.353C>A (p.Thr118Asn) c.365C>A (p.Thr122Asn) c.284C>A (p.Thr95Asn) | |
| 11 | g.2169691T>A | CA379112194 | TH | c.271A>T (p.Thr91Ser) c.95A>T (p.His32Leu) c.107A>T (p.His36Leu) c.352A>T (p.Thr118Ser) c.364A>T (p.Thr122Ser) c.283A>T (p.Thr95Ser) | |
| 11 | g.2169691T>C | CA379112195 | TH | c.271A>G (p.Thr91Ala) c.95A>G (p.His32Arg) c.107A>G (p.His36Arg) c.352A>G (p.Thr118Ala) c.364A>G (p.Thr122Ala) c.283A>G (p.Thr95Ala) | dbSNP |
| 11 | g.2169691T>G | CA379112196 | TH | c.271A>C (p.Thr91Pro) c.95A>C (p.His32Pro) c.107A>C (p.His36Pro) c.352A>C (p.Thr118Pro) c.364A>C (p.Thr122Pro) c.283A>C (p.Thr95Pro) | gnomAD v4 |
| 11 | g.2169691T= | CA1948009499 | TH | c.271A= (p.Thr91=) c.95A= (p.His32=) c.107A= (p.His36=) c.352A= (p.Thr118=) c.364A= (p.Thr122=) c.283A= (p.Thr95=) | |
| 11 | g.2169692G>A | CA472018778 | TH | c.270C>T (p.Ala90=) c.94C>T (p.His32Tyr) c.106C>T (p.His36Tyr) c.351C>T (p.Ala117=) c.363C>T (p.Ala121=) c.282C>T (p.Ala94=) | |
| 11 | g.2169692G>C | CA472018779 | TH | c.270C>G (p.Ala90=) c.94C>G (p.His32Asp) c.106C>G (p.His36Asp) c.351C>G (p.Ala117=) c.363C>G (p.Ala121=) c.282C>G (p.Ala94=) | |
| 11 | g.2169692G>T | CA472018780 | TH | c.270C>A (p.Ala90=) c.94C>A (p.His32Asn) c.106C>A (p.His36Asn) c.351C>A (p.Ala117=) c.363C>A (p.Ala121=) c.282C>A (p.Ala94=) | |
| 11 | g.2169693G>A | CA379112197 | TH | c.269C>T (p.Ala90Val) c.93C>T (p.Gly31=) c.105C>T (p.Gly35=) c.350C>T (p.Ala117Val) c.362C>T (p.Ala121Val) c.281C>T (p.Ala94Val) | |
| 11 | g.2169693G>C | CA379112198 | TH | c.269C>G (p.Ala90Gly) c.93C>G (p.Gly31=) c.105C>G (p.Gly35=) c.350C>G (p.Ala117Gly) c.362C>G (p.Ala121Gly) c.281C>G (p.Ala94Gly) | |
| 11 | g.2169693G= | CA1948009501 | TH | c.269C= (p.Ala90=) c.93C= (p.Gly31=) c.105C= (p.Gly35=) c.350C= (p.Ala117=) c.362C= (p.Ala121=) c.281C= (p.Ala94=) | |
| 11 | g.2169693G>T | CA379112199 | TH | c.269C>A (p.Ala90Asp) c.93C>A (p.Gly31=) c.105C>A (p.Gly35=) c.350C>A (p.Ala117Asp) c.362C>A (p.Ala121Asp) c.281C>A (p.Ala94Asp) | dbSNP |
| 11 | g.2169694C>A | CA379112200 | TH | c.268G>T (p.Ala90Ser) c.92G>T (p.Gly31Val) c.104G>T (p.Gly35Val) c.349G>T (p.Ala117Ser) c.361G>T (p.Ala121Ser) c.280G>T (p.Ala94Ser) | |
| 11 | g.2169694C= | CA1948009504 | TH | c.268G= (p.Ala90=) c.92G= (p.Gly31=) c.104G= (p.Gly35=) c.349G= (p.Ala117=) c.361G= (p.Ala121=) c.280G= (p.Ala94=) | |
| 11 | g.2169694C>G | CA379112201 | TH | c.268G>C (p.Ala90Pro) c.92G>C (p.Gly31Ala) c.104G>C (p.Gly35Ala) c.349G>C (p.Ala117Pro) c.361G>C (p.Ala121Pro) c.280G>C (p.Ala94Pro) | |
| 11 | g.2169694C>T | CA379112202 | TH | c.268G>A (p.Ala90Thr) c.92G>A (p.Gly31Asp) c.104G>A (p.Gly35Asp) c.349G>A (p.Ala117Thr) c.361G>A (p.Ala121Thr) c.280G>A (p.Ala94Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2169695C>A | CA379112203 | TH | c.267G>T (p.Arg89Ser) c.91G>T (p.Gly31Cys) c.103G>T (p.Gly35Cys) c.348G>T (p.Arg116Ser) c.360G>T (p.Arg120Ser) c.279G>T (p.Arg93Ser) | |
| 11 | g.2169695C= | CA1948009508 | TH | c.267G= (p.Arg89=) c.91G= (p.Gly31=) c.103G= (p.Gly35=) c.348G= (p.Arg116=) c.360G= (p.Arg120=) c.279G= (p.Arg93=) | |
| 11 | g.2169695C>G | CA379112204 | TH | c.267G>C (p.Arg89Ser) c.91G>C (p.Gly31Arg) c.103G>C (p.Gly35Arg) c.348G>C (p.Arg116Ser) c.360G>C (p.Arg120Ser) c.279G>C (p.Arg93Ser) | |
| 11 | g.2169695C>T | CA5818744 | TH | c.267G>A (p.Arg89=) c.91G>A (p.Gly31Ser) c.103G>A (p.Gly35Ser) c.348G>A (p.Arg116=) c.360G>A (p.Arg120=) c.279G>A (p.Arg93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169696C>A | CA379112207 | TH | c.266G>T (p.Arg89Met) c.91-1G>T (n.91-1G>T) c.103-1G>T (n.103-1G>T) c.347G>T (p.Arg116Met) c.359G>T (p.Arg120Met) c.278G>T (p.Arg93Met) | COSMIC |
| 11 | g.2169696C= | CA1948009512 | TH | c.266G= (p.Arg89=) c.91-1G= (n.91-1G=) c.103-1G= (n.103-1G=) c.347G= (p.Arg116=) c.359G= (p.Arg120=) c.278G= (p.Arg93=) | |
| 11 | g.2169696C>G | CA379112206 | TH | c.266G>C (p.Arg89Thr) c.91-1G>C (n.91-1G>C) c.103-1G>C (n.103-1G>C) c.347G>C (p.Arg116Thr) c.359G>C (p.Arg120Thr) c.278G>C (p.Arg93Thr) | |
| 11 | g.2169696C>T | CA379112205 | TH | c.266G>A (p.Arg89Lys) c.91-1G>A (n.91-1G>A) c.103-1G>A (n.103-1G>A) c.347G>A (p.Arg116Lys) c.359G>A (p.Arg120Lys) c.278G>A (p.Arg93Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2169697T>A | CA379112208 | TH | c.265A>T (p.Arg89Trp) c.91-2A>T (n.91-2A>T) c.103-2A>T (n.103-2A>T) c.346A>T (p.Arg116Trp) c.358A>T (p.Arg120Trp) c.277A>T (p.Arg93Trp) | |
| 11 | g.2169697T>C | CA379112209 | TH | c.265A>G (p.Arg89Gly) c.91-2A>G (n.91-2A>G) c.103-2A>G (n.103-2A>G) c.346A>G (p.Arg116Gly) c.358A>G (p.Arg120Gly) c.277A>G (p.Arg93Gly) | |
| 11 | g.2169697T>G | CA472018785 | TH | c.265A>C (p.Arg89=) c.91-2A>C (n.91-2A>C) c.103-2A>C (n.103-2A>C) c.346A>C (p.Arg116=) c.358A>C (p.Arg120=) c.277A>C (p.Arg93=) | |
| 11 | g.2169698C>A | CA472018787 | TH | c.264G>T (p.Pro88=) c.91-3G>T (n.91-3G>T) c.103-3G>T (n.103-3G>T) c.345G>T (p.Pro115=) c.357G>T (p.Pro119=) c.276G>T (p.Pro92=) | gnomAD v4 |
| 11 | g.2169698C= | CA1948009516 | TH | c.264G= (p.Pro88=) c.91-3G= (n.91-3G=) c.103-3G= (n.103-3G=) c.345G= (p.Pro115=) c.357G= (p.Pro119=) c.276G= (p.Pro92=) | |
| 11 | g.2169698C>G | CA472018786 | TH | c.264G>C (p.Pro88=) c.91-3G>C (n.91-3G>C) c.103-3G>C (n.103-3G>C) c.345G>C (p.Pro115=) c.357G>C (p.Pro119=) c.276G>C (p.Pro92=) | |
| 11 | g.2169698C>T | CA5818745 | TH | c.264G>A (p.Pro88=) c.91-3G>A (n.91-3G>A) c.103-3G>A (n.103-3G>A) c.345G>A (p.Pro115=) c.357G>A (p.Pro119=) c.276G>A (p.Pro92=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169699G>A | CA5818746 | TH | c.263C>T (p.Pro88Leu) c.91-4C>T (n.91-4C>T) c.103-4C>T (n.103-4C>T) c.344C>T (p.Pro115Leu) c.356C>T (p.Pro119Leu) c.275C>T (p.Pro92Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169699G>C | CA379112210 | TH | c.263C>G (p.Pro88Arg) c.91-4C>G (n.91-4C>G) c.103-4C>G (n.103-4C>G) c.344C>G (p.Pro115Arg) c.356C>G (p.Pro119Arg) c.275C>G (p.Pro92Arg) | |
| 11 | g.2169699G= | CA1948009523 | TH | c.263C= (p.Pro88=) c.91-4C= (n.91-4C=) c.103-4C= (n.103-4C=) c.344C= (p.Pro115=) c.356C= (p.Pro119=) c.275C= (p.Pro92=) | |
| 11 | g.2169699G>T | CA5818747 | TH | c.263C>A (p.Pro88Gln) c.91-4C>A (n.91-4C>A) c.103-4C>A (n.103-4C>A) c.344C>A (p.Pro115Gln) c.356C>A (p.Pro119Gln) c.275C>A (p.Pro92Gln) | dbSNP ExAC gnomAD v2 |
| 11 | g.2169702del | CA2580082706 | TH | c.263del (p.Pro88ArgfsTer13) c.91-4del (n.91-4del) c.103-4del (n.103-4del) c.344del (p.Pro115ArgfsTer13) c.356del (p.Pro119ArgfsTer13) c.275del (p.Pro92ArgfsTer13) | ClinVar |
| 11 | g.2169700G>A | CA379112211 | TH | c.262C>T (p.Pro88Ser) c.91-5C>T (n.91-5C>T) c.103-5C>T (n.103-5C>T) c.343C>T (p.Pro115Ser) c.355C>T (p.Pro119Ser) c.274C>T (p.Pro92Ser) | |
| 11 | g.2169700G>C | CA379112212 | TH | c.262C>G (p.Pro88Ala) c.91-5C>G (n.91-5C>G) c.103-5C>G (n.103-5C>G) c.343C>G (p.Pro115Ala) c.355C>G (p.Pro119Ala) c.274C>G (p.Pro92Ala) | |
| 11 | g.2169700G>T | CA379112213 | TH | c.262C>A (p.Pro88Thr) c.91-5C>A (n.91-5C>A) c.103-5C>A (n.103-5C>A) c.343C>A (p.Pro115Thr) c.355C>A (p.Pro119Thr) c.274C>A (p.Pro92Thr) | |
| 11 | g.2169701G>A | CA472018791 | TH | c.261C>T (p.Ser87=) c.91-6C>T (n.91-6C>T) c.103-6C>T (n.103-6C>T) c.342C>T (p.Ser114=) c.354C>T (p.Ser118=) c.273C>T (p.Ser91=) | dbSNP gnomAD v4 |
| 11 | g.2169701G>C | CA472018792 | TH | c.261C>G (p.Ser87=) c.91-6C>G (n.91-6C>G) c.103-6C>G (n.103-6C>G) c.342C>G (p.Ser114=) c.354C>G (p.Ser118=) c.273C>G (p.Ser91=) | |
| 11 | g.2169701G= | CA1948009527 | TH | c.261C= (p.Ser87=) c.91-6C= (n.91-6C=) c.103-6C= (n.103-6C=) c.342C= (p.Ser114=) c.354C= (p.Ser118=) c.273C= (p.Ser91=) | |
| 11 | g.2169701G>T | CA472018793 | TH | c.261C>A (p.Ser87=) c.91-6C>A (n.91-6C>A) c.103-6C>A (n.103-6C>A) c.342C>A (p.Ser114=) c.354C>A (p.Ser118=) c.273C>A (p.Ser91=) | |
| 11 | g.2169702G>A | CA379112214 | TH | c.260C>T (p.Ser87Phe) c.91-7C>T (n.91-7C>T) c.103-7C>T (n.103-7C>T) c.341C>T (p.Ser114Phe) c.353C>T (p.Ser118Phe) c.272C>T (p.Ser91Phe) | gnomAD v4 |
| 11 | g.2169702G>C | CA379112215 | TH | c.260C>G (p.Ser87Cys) c.91-7C>G (n.91-7C>G) c.103-7C>G (n.103-7C>G) c.341C>G (p.Ser114Cys) c.353C>G (p.Ser118Cys) c.272C>G (p.Ser91Cys) | |
| 11 | g.2169702G>T | CA379112216 | TH | c.260C>A (p.Ser87Tyr) c.91-7C>A (n.91-7C>A) c.103-7C>A (n.103-7C>A) c.341C>A (p.Ser114Tyr) c.353C>A (p.Ser118Tyr) c.272C>A (p.Ser91Tyr) | gnomAD v4 |
| 11 | g.2169703A= | CA1948009530 | TH | c.259T= (p.Ser87=) c.91-8T= (n.91-8T=) c.103-8T= (n.103-8T=) c.340T= (p.Ser114=) c.352T= (p.Ser118=) c.271T= (p.Ser91=) | |
| 11 | g.2169703A>C | CA379112219 | TH | c.259T>G (p.Ser87Ala) c.91-8T>G (n.91-8T>G) c.103-8T>G (n.103-8T>G) c.340T>G (p.Ser114Ala) c.352T>G (p.Ser118Ala) c.271T>G (p.Ser91Ala) | |
| 11 | g.2169703A>G | CA379112218 | TH | c.259T>C (p.Ser87Pro) c.91-8T>C (n.91-8T>C) c.103-8T>C (n.103-8T>C) c.340T>C (p.Ser114Pro) c.352T>C (p.Ser118Pro) c.271T>C (p.Ser91Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2169703A>T | CA379112217 | TH | c.259T>A (p.Ser87Thr) c.91-8T>A (n.91-8T>A) c.103-8T>A (n.103-8T>A) c.340T>A (p.Ser114Thr) c.352T>A (p.Ser118Thr) c.271T>A (p.Ser91Thr) | |
| 11 | g.2169704G>A | CA472018795 | TH | c.258C>T (p.Phe86=) c.91-9C>T (n.91-9C>T) c.103-9C>T (n.103-9C>T) c.339C>T (p.Phe113=) c.351C>T (p.Phe117=) c.270C>T (p.Phe90=) | COSMIC |
| 11 | g.2169704G>C | CA379112220 | TH | c.258C>G (p.Phe86Leu) c.91-9C>G (n.91-9C>G) c.103-9C>G (n.103-9C>G) c.339C>G (p.Phe113Leu) c.351C>G (p.Phe117Leu) c.270C>G (p.Phe90Leu) | |
| 11 | g.2169704G>T | CA379112221 | TH | c.258C>A (p.Phe86Leu) c.91-9C>A (n.91-9C>A) c.103-9C>A (n.103-9C>A) c.339C>A (p.Phe113Leu) c.351C>A (p.Phe117Leu) c.270C>A (p.Phe90Leu) | |
| 11 | g.2169705A= | CA1948009532 | TH | c.257T= (p.Phe86=) c.91-10T= (n.91-10T=) c.103-10T= (n.103-10T=) c.338T= (p.Phe113=) c.350T= (p.Phe117=) c.269T= (p.Phe90=) | |
| 11 | g.2169705A>C | CA5818748 | TH | c.257T>G (p.Phe86Cys) c.91-10T>G (n.91-10T>G) c.103-10T>G (n.103-10T>G) c.338T>G (p.Phe113Cys) c.350T>G (p.Phe117Cys) c.269T>G (p.Phe90Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169705A>G | CA379112222 | TH | c.257T>C (p.Phe86Ser) c.91-10T>C (n.91-10T>C) c.103-10T>C (n.103-10T>C) c.338T>C (p.Phe113Ser) c.350T>C (p.Phe117Ser) c.269T>C (p.Phe90Ser) | |
| 11 | g.2169705A>T | CA379112223 | TH | c.257T>A (p.Phe86Tyr) c.91-10T>A (n.91-10T>A) c.103-10T>A (n.103-10T>A) c.338T>A (p.Phe113Tyr) c.350T>A (p.Phe117Tyr) c.269T>A (p.Phe90Tyr) | |
| 11 | g.2169706A>C | CA379112224 | TH | c.256T>G (p.Phe86Val) c.91-11T>G (n.91-11T>G) c.103-11T>G (n.103-11T>G) c.337T>G (p.Phe113Val) c.349T>G (p.Phe117Val) c.268T>G (p.Phe90Val) | |
| 11 | g.2169706A>G | CA379112225 | TH | c.256T>C (p.Phe86Leu) c.91-11T>C (n.91-11T>C) c.103-11T>C (n.103-11T>C) c.337T>C (p.Phe113Leu) c.349T>C (p.Phe117Leu) c.268T>C (p.Phe90Leu) | gnomAD v4 |
| 11 | g.2169706A>T | CA379112226 | TH | c.256T>A (p.Phe86Ile) c.91-11T>A (n.91-11T>A) c.103-11T>A (n.103-11T>A) c.337T>A (p.Phe113Ile) c.349T>A (p.Phe117Ile) c.268T>A (p.Phe90Ile) | |
| 11 | g.2169707G>A | CA472018798 | TH | c.255C>T (p.Leu85=) c.91-12C>T (n.91-12C>T) c.103-12C>T (n.103-12C>T) c.336C>T (p.Leu112=) c.348C>T (p.Leu116=) c.267C>T (p.Leu89=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2169707G>C | CA472018800 | TH | c.255C>G (p.Leu85=) c.91-12C>G (n.91-12C>G) c.103-12C>G (n.103-12C>G) c.336C>G (p.Leu112=) c.348C>G (p.Leu116=) c.267C>G (p.Leu89=) | |
| 11 | g.2169707G>T | CA472018799 | TH | c.255C>A (p.Leu85=) c.91-12C>A (n.91-12C>A) c.103-12C>A (n.103-12C>A) c.336C>A (p.Leu112=) c.348C>A (p.Leu116=) c.267C>A (p.Leu89=) | |
| 11 | g.2169708A>C | CA379112227 | TH | c.254T>G (p.Leu85Arg) c.91-13T>G (n.91-13T>G) c.103-13T>G (n.103-13T>G) c.335T>G (p.Leu112Arg) c.347T>G (p.Leu116Arg) c.266T>G (p.Leu89Arg) | |
| 11 | g.2169708A>G | CA379112228 | TH | c.254T>C (p.Leu85Pro) c.91-13T>C (n.91-13T>C) c.103-13T>C (n.103-13T>C) c.335T>C (p.Leu112Pro) c.347T>C (p.Leu116Pro) c.266T>C (p.Leu89Pro) | |
| 11 | g.2169708A>T | CA379112229 | TH | c.254T>A (p.Leu85His) c.91-13T>A (n.91-13T>A) c.103-13T>A (n.103-13T>A) c.335T>A (p.Leu112His) c.347T>A (p.Leu116His) c.266T>A (p.Leu89His) | |
| 11 | g.2169709G>A | CA379112230 | TH | c.253C>T (p.Leu85Phe) c.91-14C>T (n.91-14C>T) c.103-14C>T (n.103-14C>T) c.334C>T (p.Leu112Phe) c.346C>T (p.Leu116Phe) c.265C>T (p.Leu89Phe) | gnomAD v4 |
| 11 | g.2169709G>C | CA379112231 | TH | c.253C>G (p.Leu85Val) c.91-14C>G (n.91-14C>G) c.103-14C>G (n.103-14C>G) c.334C>G (p.Leu112Val) c.346C>G (p.Leu116Val) c.265C>G (p.Leu89Val) | |
| 11 | g.2169709G>T | CA379112232 | TH | c.253C>A (p.Leu85Ile) c.91-14C>A (n.91-14C>A) c.103-14C>A (n.103-14C>A) c.334C>A (p.Leu112Ile) c.346C>A (p.Leu116Ile) c.265C>A (p.Leu89Ile) | |
| 11 | g.2169710C>A | CA472018804 | TH | c.252G>T (p.Leu84=) c.91-15G>T (n.91-15G>T) c.103-15G>T (n.103-15G>T) c.333G>T (p.Leu111=) c.345G>T (p.Leu115=) c.264G>T (p.Leu88=) | |
| 11 | g.2169710C= | CA1948009536 | TH | c.252G= (p.Leu84=) c.91-15G= (n.91-15G=) c.103-15G= (n.103-15G=) c.333G= (p.Leu111=) c.345G= (p.Leu115=) c.264G= (p.Leu88=) | |
| 11 | g.2169710C>G | CA472018805 | TH | c.252G>C (p.Leu84=) c.91-15G>C (n.91-15G>C) c.103-15G>C (n.103-15G>C) c.333G>C (p.Leu111=) c.345G>C (p.Leu115=) c.264G>C (p.Leu88=) | |
| 11 | g.2169710C>T | CA5818749 | TH | c.252G>A (p.Leu84=) c.91-15G>A (n.91-15G>A) c.103-15G>A (n.103-15G>A) c.333G>A (p.Leu111=) c.345G>A (p.Leu115=) c.264G>A (p.Leu88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169711A= | CA1948009541 | TH | c.251T= (p.Leu84=) c.91-16T= (n.91-16T=) c.103-16T= (n.103-16T=) c.332T= (p.Leu111=) c.344T= (p.Leu115=) c.263T= (p.Leu88=) | |
| 11 | g.2169711A>C | CA379112233 | TH | c.251T>G (p.Leu84Arg) c.91-16T>G (n.91-16T>G) c.103-16T>G (n.103-16T>G) c.332T>G (p.Leu111Arg) c.344T>G (p.Leu115Arg) c.263T>G (p.Leu88Arg) | |
| 11 | g.2169711A>G | CA5818750 | TH | c.251T>C (p.Leu84Pro) c.91-16T>C (n.91-16T>C) c.103-16T>C (n.103-16T>C) c.332T>C (p.Leu111Pro) c.344T>C (p.Leu115Pro) c.263T>C (p.Leu88Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2169711A>T | CA379112234 | TH | c.251T>A (p.Leu84Gln) c.91-16T>A (n.91-16T>A) c.103-16T>A (n.103-16T>A) c.332T>A (p.Leu111Gln) c.344T>A (p.Leu115Gln) c.263T>A (p.Leu88Gln) | |
| 11 | g.2169712G>A | CA472018808 | TH | c.250C>T (p.Leu84=) c.91-17C>T (n.91-17C>T) c.103-17C>T (n.103-17C>T) c.331C>T (p.Leu111=) c.343C>T (p.Leu115=) c.262C>T (p.Leu88=) | |
| 11 | g.2169712G>C | CA379112235 | TH | c.250C>G (p.Leu84Val) c.91-17C>G (n.91-17C>G) c.103-17C>G (n.103-17C>G) c.331C>G (p.Leu111Val) c.343C>G (p.Leu115Val) c.262C>G (p.Leu88Val) | |
| 11 | g.2169712G>T | CA379112236 | TH | c.250C>A (p.Leu84Met) c.91-17C>A (n.91-17C>A) c.103-17C>A (n.103-17C>A) c.331C>A (p.Leu111Met) c.343C>A (p.Leu115Met) c.262C>A (p.Leu88Met) | |
| 11 | g.2169713G>A | CA472018809 | TH | c.249C>T (p.Asn83=) c.91-18C>T (n.91-18C>T) c.103-18C>T (n.103-18C>T) c.330C>T (p.Asn110=) c.342C>T (p.Asn114=) c.261C>T (p.Asn87=) | gnomAD v4 |
| 11 | g.2169713G>C | CA379112237 | TH | c.249C>G (p.Asn83Lys) c.91-18C>G (n.91-18C>G) c.103-18C>G (n.103-18C>G) c.330C>G (p.Asn110Lys) c.342C>G (p.Asn114Lys) c.261C>G (p.Asn87Lys) | |
| 11 | g.2169713G= | CA1948009543 | TH | c.249C= (p.Asn83=) c.91-18C= (n.91-18C=) c.103-18C= (n.103-18C=) c.330C= (p.Asn110=) c.342C= (p.Asn114=) c.261C= (p.Asn87=) | |
| 11 | g.2169713G>T | CA5818751 | TH | c.249C>A (p.Asn83Lys) c.91-18C>A (n.91-18C>A) c.103-18C>A (n.103-18C>A) c.330C>A (p.Asn110Lys) c.342C>A (p.Asn114Lys) c.261C>A (p.Asn87Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2169714T>A | CA379112238 | TH | c.248A>T (p.Asn83Ile) c.91-19A>T (n.91-19A>T) c.103-19A>T (n.103-19A>T) c.329A>T (p.Asn110Ile) c.341A>T (p.Asn114Ile) c.260A>T (p.Asn87Ile) | |
| 11 | g.2169714T>C | CA379112239 | TH | c.248A>G (p.Asn83Ser) c.91-19A>G (n.91-19A>G) c.103-19A>G (n.103-19A>G) c.329A>G (p.Asn110Ser) c.341A>G (p.Asn114Ser) c.260A>G (p.Asn87Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2169714T>G | CA379112240 | TH | c.248A>C (p.Asn83Thr) c.91-19A>C (n.91-19A>C) c.103-19A>C (n.103-19A>C) c.329A>C (p.Asn110Thr) c.341A>C (p.Asn114Thr) c.260A>C (p.Asn87Thr) | |
| 11 | g.2169714T= | CA1948009546 | TH | c.248A= (p.Asn83=) c.91-19A= (n.91-19A=) c.103-19A= (n.103-19A=) c.329A= (p.Asn110=) c.341A= (p.Asn114=) c.260A= (p.Asn87=) | |
| 11 | g.2169715T>A | CA379112241 | TH | c.247A>T (p.Asn83Tyr) c.91-20A>T (n.91-20A>T) c.103-20A>T (n.103-20A>T) c.328A>T (p.Asn110Tyr) c.340A>T (p.Asn114Tyr) c.259A>T (p.Asn87Tyr) | |
| 11 | g.2169715T>C | CA379112242 | TH | c.247A>G (p.Asn83Asp) c.91-20A>G (n.91-20A>G) c.103-20A>G (n.103-20A>G) c.328A>G (p.Asn110Asp) c.340A>G (p.Asn114Asp) c.259A>G (p.Asn87Asp) | |
| 11 | g.2169715T>G | CA379112243 | TH | c.247A>C (p.Asn83His) c.91-20A>C (n.91-20A>C) c.103-20A>C (n.103-20A>C) c.328A>C (p.Asn110His) c.340A>C (p.Asn114His) c.259A>C (p.Asn87His) | |
| 11 | g.2169716T>A | CA472018812 | TH | c.246A>T (p.Leu82=) c.91-21A>T (n.91-21A>T) c.103-21A>T (n.103-21A>T) c.327A>T (p.Leu109=) c.339A>T (p.Leu113=) c.258A>T (p.Leu86=) | |
| 11 | g.2169716T>C | CA472018813 | TH | c.246A>G (p.Leu82=) c.91-21A>G (n.91-21A>G) c.103-21A>G (n.103-21A>G) c.327A>G (p.Leu109=) c.339A>G (p.Leu113=) c.258A>G (p.Leu86=) | |
| 11 | g.2169716T>G | CA472018814 | TH | c.246A>C (p.Leu82=) c.91-21A>C (n.91-21A>C) c.103-21A>C (n.103-21A>C) c.327A>C (p.Leu109=) c.339A>C (p.Leu113=) c.258A>C (p.Leu86=) | |
| 11 | g.2169716_2169717insCCCCTCCTTCTCCTC | CA2611979697 | TH | c.245_246insGAGGAGAAGGAGGGG (p.Leu82_Asn83insArgArgArgArgGly) c.91-22_91-21insGAGGAGAAGGAGGGG (n.91-22_91-21insGAGGAGAAGGAGGGG) c.103-22_103-21insGAGGAGAAGGAGGGG (n.103-22_103-21insGAGGAGAAGGAGGGG) c.326_327insGAGGAGAAGGAGGGG (p.Leu109_Asn110insArgArgArgArgGly) c.338_339insGAGGAGAAGGAGGGG (p.Leu113_Asn114insArgArgArgArgGly) c.257_258insGAGGAGAAGGAGGGG (p.Leu86_Asn87insArgArgArgArgGly) | gnomAD v4 |
| 11 | g.2169717A= | CA1948009548 | TH | c.245T= (p.Leu82=) c.91-22T= (n.91-22T=) c.103-22T= (n.103-22T=) c.326T= (p.Leu109=) c.338T= (p.Leu113=) c.257T= (p.Leu86=) | |
| 11 | g.2169717A>C | CA379112245 | TH | c.245T>G (p.Leu82Arg) c.91-22T>G (n.91-22T>G) c.103-22T>G (n.103-22T>G) c.326T>G (p.Leu109Arg) c.338T>G (p.Leu113Arg) c.257T>G (p.Leu86Arg) | ClinVar dbSNP |
| 11 | g.2169717A>G | CA216227631 | TH | c.245T>C (p.Leu82Pro) c.91-22T>C (n.91-22T>C) c.103-22T>C (n.103-22T>C) c.326T>C (p.Leu109Pro) c.338T>C (p.Leu113Pro) c.257T>C (p.Leu86Pro) | dbSNP |
| 11 | g.2169717A>T | CA379112244 | TH | c.245T>A (p.Leu82Gln) c.91-22T>A (n.91-22T>A) c.103-22T>A (n.103-22T>A) c.326T>A (p.Leu109Gln) c.338T>A (p.Leu113Gln) c.257T>A (p.Leu86Gln) | |
| 11 | g.2169717_2169718insAAGAGGG | CA2611979701 | TH | c.244_245insCCCTCTT (p.Leu82ProfsTer25) c.91-23_91-22insCCCTCTT (n.91-23_91-22insCCCTCTT) c.103-23_103-22insCCCTCTT (n.103-23_103-22insCCCTCTT) c.325_326insCCCTCTT (p.Leu109ProfsTer25) c.337_338insCCCTCTT (p.Leu113ProfsTer25) c.256_257insCCCTCTT (p.Leu86ProfsTer25) | gnomAD v4 |
| 11 | g.2169718G>A | CA472018816 | TH | c.244C>T (p.Leu82=) c.91-23C>T (n.91-23C>T) c.103-23C>T (n.103-23C>T) c.325C>T (p.Leu109=) c.337C>T (p.Leu113=) c.256C>T (p.Leu86=) | gnomAD v4 |
| 11 | g.2169718G>C | CA379112246 | TH | c.244C>G (p.Leu82Val) c.91-23C>G (n.91-23C>G) c.103-23C>G (n.103-23C>G) c.325C>G (p.Leu109Val) c.337C>G (p.Leu113Val) c.256C>G (p.Leu86Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169718G= | CA1948009553 | TH | c.244C= (p.Leu82=) c.91-23C= (n.91-23C=) c.103-23C= (n.103-23C=) c.325C= (p.Leu109=) c.337C= (p.Leu113=) c.256C= (p.Leu86=) | |
| 11 | g.2169718G>T | CA379112247 | TH | c.244C>A (p.Leu82Ile) c.91-23C>A (n.91-23C>A) c.103-23C>A (n.103-23C>A) c.325C>A (p.Leu109Ile) c.337C>A (p.Leu113Ile) c.256C>A (p.Leu86Ile) | |
| 11 | g.2169719C>A | CA472018817 | TH | c.243G>T (p.Val81=) c.91-24G>T (n.91-24G>T) c.103-24G>T (n.103-24G>T) c.324G>T (p.Val108=) c.336G>T (p.Val112=) c.255G>T (p.Val85=) | |
| 11 | g.2169719C>G | CA472018819 | TH | c.243G>C (p.Val81=) c.91-24G>C (n.91-24G>C) c.103-24G>C (n.103-24G>C) c.324G>C (p.Val108=) c.336G>C (p.Val112=) c.255G>C (p.Val85=) | |
| 11 | g.2169719C>T | CA472018818 | TH | c.243G>A (p.Val81=) c.91-24G>A (n.91-24G>A) c.103-24G>A (n.103-24G>A) c.324G>A (p.Val108=) c.336G>A (p.Val112=) c.255G>A (p.Val85=) | |
| 11 | g.2169720A>C | CA379112248 | TH | c.242T>G (p.Val81Gly) c.91-25T>G (n.91-25T>G) c.103-25T>G (n.103-25T>G) c.323T>G (p.Val108Gly) c.335T>G (p.Val112Gly) c.254T>G (p.Val85Gly) | |
| 11 | g.2169720A>G | CA379112249 | TH | c.242T>C (p.Val81Ala) c.91-25T>C (n.91-25T>C) c.103-25T>C (n.103-25T>C) c.323T>C (p.Val108Ala) c.335T>C (p.Val112Ala) c.254T>C (p.Val85Ala) | |
| 11 | g.2169720A>T | CA379112250 | TH | c.242T>A (p.Val81Glu) c.91-25T>A (n.91-25T>A) c.103-25T>A (n.103-25T>A) c.323T>A (p.Val108Glu) c.335T>A (p.Val112Glu) c.254T>A (p.Val85Glu) | |
| 11 | g.2169721C>A | CA379112251 | TH | c.241G>T (p.Val81Leu) c.91-26G>T (n.91-26G>T) c.103-26G>T (n.103-26G>T) c.322G>T (p.Val108Leu) c.334G>T (p.Val112Leu) c.253G>T (p.Val85Leu) | dbSNP |
| 11 | g.2169721C= | CA1630848554 | TH | c.241G= (p.Val81=) c.91-26G= (n.91-26G=) c.103-26G= (n.103-26G=) c.322G= (p.Val108=) c.334G= (p.Val112=) c.253G= (p.Val85=) | |
| 11 | g.2169721C>G | CA379112252 | TH | c.241G>C (p.Val81Leu) c.91-26G>C (n.91-26G>C) c.103-26G>C (n.103-26G>C) c.322G>C (p.Val108Leu) c.334G>C (p.Val112Leu) c.253G>C (p.Val85Leu) | |
| 11 | g.2169721C>T | CA342583 | TH | c.241G>A (p.Val81Met) c.91-26G>A (n.91-26G>A) c.103-26G>A (n.103-26G>A) c.322G>A (p.Val108Met) c.334G>A (p.Val112Met) c.253G>A (p.Val85Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169722G>A | CA5818752 | TH | c.240C>T (p.Ala80=) c.91-27C>T (n.91-27C>T) c.103-27C>T (n.103-27C>T) c.321C>T (p.Ala107=) c.333C>T (p.Ala111=) c.252C>T (p.Ala84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169722G>C | CA472018820 | TH | c.240C>G (p.Ala80=) c.91-27C>G (n.91-27C>G) c.103-27C>G (n.103-27C>G) c.321C>G (p.Ala107=) c.333C>G (p.Ala111=) c.252C>G (p.Ala84=) | |
| 11 | g.2169722G= | CA1948009558 | TH | c.240C= (p.Ala80=) c.91-27C= (n.91-27C=) c.103-27C= (n.103-27C=) c.321C= (p.Ala107=) c.333C= (p.Ala111=) c.252C= (p.Ala84=) | |
| 11 | g.2169722G>T | CA472018821 | TH | c.240C>A (p.Ala80=) c.91-27C>A (n.91-27C>A) c.103-27C>A (n.103-27C>A) c.321C>A (p.Ala107=) c.333C>A (p.Ala111=) c.252C>A (p.Ala84=) | |
| 11 | g.2169723G>A | CA379112253 | TH | c.239C>T (p.Ala80Val) c.91-28C>T (n.91-28C>T) c.103-28C>T (n.103-28C>T) c.320C>T (p.Ala107Val) c.332C>T (p.Ala111Val) c.251C>T (p.Ala84Val) | |
| 11 | g.2169723G>C | CA379112254 | TH | c.239C>G (p.Ala80Gly) c.91-28C>G (n.91-28C>G) c.103-28C>G (n.103-28C>G) c.320C>G (p.Ala107Gly) c.332C>G (p.Ala111Gly) c.251C>G (p.Ala84Gly) | |
| 11 | g.2169723G>T | CA379112255 | TH | c.239C>A (p.Ala80Asp) c.91-28C>A (n.91-28C>A) c.103-28C>A (n.103-28C>A) c.320C>A (p.Ala107Asp) c.332C>A (p.Ala111Asp) c.251C>A (p.Ala84Asp) | |
| 11 | g.2169724C>A | CA5818753 | TH | c.238G>T (p.Ala80Ser) c.91-29G>T (n.91-29G>T) c.103-29G>T (n.103-29G>T) c.319G>T (p.Ala107Ser) c.331G>T (p.Ala111Ser) c.250G>T (p.Ala84Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2169724C= | CA1948009561 | TH | c.238G= (p.Ala80=) c.91-29G= (n.91-29G=) c.103-29G= (n.103-29G=) c.319G= (p.Ala107=) c.331G= (p.Ala111=) c.250G= (p.Ala84=) | |
| 11 | g.2169724C>G | CA379112256 | TH | c.238G>C (p.Ala80Pro) c.91-29G>C (n.91-29G>C) c.103-29G>C (n.103-29G>C) c.319G>C (p.Ala107Pro) c.331G>C (p.Ala111Pro) c.250G>C (p.Ala84Pro) | |
| 11 | g.2169724C>T | CA379112257 | TH | c.238G>A (p.Ala80Thr) c.91-29G>A (n.91-29G>A) c.103-29G>A (n.103-29G>A) c.319G>A (p.Ala107Thr) c.331G>A (p.Ala111Thr) c.250G>A (p.Ala84Thr) | |
| 11 | g.2169725C>A | CA379112259 | TH | c.237G>T (p.Lys79Asn) c.91-30G>T (n.91-30G>T) c.103-30G>T (n.103-30G>T) c.318G>T (p.Lys106Asn) c.330G>T (p.Lys110Asn) c.249G>T (p.Lys83Asn) | |
| 11 | g.2169725C= | CA1948009564 | TH | c.237G= (p.Lys79=) c.91-30G= (n.91-30G=) c.103-30G= (n.103-30G=) c.318G= (p.Lys106=) c.330G= (p.Lys110=) c.249G= (p.Lys83=) | |
| 11 | g.2169725C>G | CA379112258 | TH | c.237G>C (p.Lys79Asn) c.91-30G>C (n.91-30G>C) c.103-30G>C (n.103-30G>C) c.318G>C (p.Lys106Asn) c.330G>C (p.Lys110Asn) c.249G>C (p.Lys83Asn) | |
| 11 | g.2169725C>T | CA472018822 | TH | c.237G>A (p.Lys79=) c.91-30G>A (n.91-30G>A) c.103-30G>A (n.103-30G>A) c.318G>A (p.Lys106=) c.330G>A (p.Lys110=) c.249G>A (p.Lys83=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2169726T>A | CA379112260 | TH | c.236A>T (p.Lys79Met) c.91-31A>T (n.91-31A>T) c.103-31A>T (n.103-31A>T) c.317A>T (p.Lys106Met) c.329A>T (p.Lys110Met) c.248A>T (p.Lys83Met) | dbSNP |
| 11 | g.2169726T>C | CA379112261 | TH | c.236A>G (p.Lys79Arg) c.91-31A>G (n.91-31A>G) c.103-31A>G (n.103-31A>G) c.317A>G (p.Lys106Arg) c.329A>G (p.Lys110Arg) c.248A>G (p.Lys83Arg) | |
| 11 | g.2169726T>G | CA379112262 | TH | c.236A>C (p.Lys79Thr) c.91-31A>C (n.91-31A>C) c.103-31A>C (n.103-31A>C) c.317A>C (p.Lys106Thr) c.329A>C (p.Lys110Thr) c.248A>C (p.Lys83Thr) | |
| 11 | g.2169726T= | CA1948009566 | TH | c.236A= (p.Lys79=) c.91-31A= (n.91-31A=) c.103-31A= (n.103-31A=) c.317A= (p.Lys106=) c.329A= (p.Lys110=) c.248A= (p.Lys83=) | |
| 11 | g.2169727T>A | CA379112263 | TH | c.235A>T (p.Lys79Ter) c.91-32A>T (n.91-32A>T) c.103-32A>T (n.103-32A>T) c.316A>T (p.Lys106Ter) c.328A>T (p.Lys110Ter) c.247A>T (p.Lys83Ter) | |
| 11 | g.2169727T>C | CA379112264 | TH | c.235A>G (p.Lys79Glu) c.91-32A>G (n.91-32A>G) c.103-32A>G (n.103-32A>G) c.316A>G (p.Lys106Glu) c.328A>G (p.Lys110Glu) c.247A>G (p.Lys83Glu) | |
| 11 | g.2169727T>G | CA379112265 | TH | c.235A>C (p.Lys79Gln) c.91-32A>C (n.91-32A>C) c.103-32A>C (n.103-32A>C) c.316A>C (p.Lys106Gln) c.328A>C (p.Lys110Gln) c.247A>C (p.Lys83Gln) | |
| 11 | g.2169728C>A | CA472018823 | TH | c.234G>T (p.Gly78=) c.91-33G>T (n.91-33G>T) c.103-33G>T (n.103-33G>T) c.315G>T (p.Gly105=) c.327G>T (p.Gly109=) c.246G>T (p.Gly82=) | dbSNP |
| 11 | g.2169728C= | CA1948009567 | TH | c.234G= (p.Gly78=) c.91-33G= (n.91-33G=) c.103-33G= (n.103-33G=) c.315G= (p.Gly105=) c.327G= (p.Gly109=) c.246G= (p.Gly82=) | |
| 11 | g.2169728C>G | CA472018824 | TH | c.234G>C (p.Gly78=) c.91-33G>C (n.91-33G>C) c.103-33G>C (n.103-33G>C) c.315G>C (p.Gly105=) c.327G>C (p.Gly109=) c.246G>C (p.Gly82=) | |
| 11 | g.2169728C>T | CA472018825 | TH | c.234G>A (p.Gly78=) c.91-33G>A (n.91-33G>A) c.103-33G>A (n.103-33G>A) c.315G>A (p.Gly105=) c.327G>A (p.Gly109=) c.246G>A (p.Gly82=) | gnomAD v4 COSMIC |
| 11 | g.2169729C>A | CA379112268 | TH | c.233G>T (p.Gly78Val) c.91-34G>T (n.91-34G>T) c.103-34G>T (n.103-34G>T) c.314G>T (p.Gly105Val) c.326G>T (p.Gly109Val) c.245G>T (p.Gly82Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169729C= | CA1948009570 | TH | c.233G= (p.Gly78=) c.91-34G= (n.91-34G=) c.103-34G= (n.103-34G=) c.314G= (p.Gly105=) c.326G= (p.Gly109=) c.245G= (p.Gly82=) | |
| 11 | g.2169729C>G | CA379112266 | TH | c.233G>C (p.Gly78Ala) c.91-34G>C (n.91-34G>C) c.103-34G>C (n.103-34G>C) c.314G>C (p.Gly105Ala) c.326G>C (p.Gly109Ala) c.245G>C (p.Gly82Ala) | |
| 11 | g.2169729C>T | CA379112267 | TH | c.233G>A (p.Gly78Glu) c.91-34G>A (n.91-34G>A) c.103-34G>A (n.103-34G>A) c.314G>A (p.Gly105Glu) c.326G>A (p.Gly109Glu) c.245G>A (p.Gly82Glu) | dbSNP gnomAD v4 |
| 11 | g.2169731_2169734dup | CA2611979743 | TH | c.230_233dup (p.Lys79GlyfsTer27) c.91-37_91-34dup (n.91-37_91-34dup) c.103-37_103-34dup (n.103-37_103-34dup) c.311_314dup (p.Lys106GlyfsTer27) c.323_326dup (p.Lys110GlyfsTer27) c.242_245dup (p.Lys83GlyfsTer27) | gnomAD v4 |
| 11 | g.2169730C>A | CA379112269 | TH | c.232G>T (p.Gly78Trp) c.91-35G>T (n.91-35G>T) c.103-35G>T (n.103-35G>T) c.313G>T (p.Gly105Trp) c.325G>T (p.Gly109Trp) c.244G>T (p.Gly82Trp) | |
| 11 | g.2169730C>G | CA379112270 | TH | c.232G>C (p.Gly78Arg) c.91-35G>C (n.91-35G>C) c.103-35G>C (n.103-35G>C) c.313G>C (p.Gly105Arg) c.325G>C (p.Gly109Arg) c.244G>C (p.Gly82Arg) | |
| 11 | g.2169730C>T | CA379112271 | TH | c.232G>A (p.Gly78Arg) c.91-35G>A (n.91-35G>A) c.103-35G>A (n.103-35G>A) c.313G>A (p.Gly105Arg) c.325G>A (p.Gly109Arg) c.244G>A (p.Gly82Arg) | |
| 11 | g.2169731C>A | CA379112272 | TH | c.231G>T (p.Glu77Asp) c.91-36G>T (n.91-36G>T) c.103-36G>T (n.103-36G>T) c.312G>T (p.Glu104Asp) c.324G>T (p.Glu108Asp) c.243G>T (p.Glu81Asp) | |
| 11 | g.2169731C>G | CA379112273 | TH | c.231G>C (p.Glu77Asp) c.91-36G>C (n.91-36G>C) c.103-36G>C (n.103-36G>C) c.312G>C (p.Glu104Asp) c.324G>C (p.Glu108Asp) c.243G>C (p.Glu81Asp) | gnomAD v4 |
| 11 | g.2169731C>T | CA472018826 | TH | c.231G>A (p.Glu77=) c.91-36G>A (n.91-36G>A) c.103-36G>A (n.103-36G>A) c.312G>A (p.Glu104=) c.324G>A (p.Glu108=) c.243G>A (p.Glu81=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2169732T>A | CA379112276 | TH | c.230A>T (p.Glu77Val) c.91-37A>T (n.91-37A>T) c.103-37A>T (n.103-37A>T) c.311A>T (p.Glu104Val) c.323A>T (p.Glu108Val) c.242A>T (p.Glu81Val) | |
| 11 | g.2169732T>C | CA379112274 | TH | c.230A>G (p.Glu77Gly) c.91-37A>G (n.91-37A>G) c.103-37A>G (n.103-37A>G) c.311A>G (p.Glu104Gly) c.323A>G (p.Glu108Gly) c.242A>G (p.Glu81Gly) | |
| 11 | g.2169732T>G | CA379112275 | TH | c.230A>C (p.Glu77Ala) c.91-37A>C (n.91-37A>C) c.103-37A>C (n.103-37A>C) c.311A>C (p.Glu104Ala) c.323A>C (p.Glu108Ala) c.242A>C (p.Glu81Ala) | |
| 11 | g.2169732_2169747delinsTCCTTCTCCTCAAAGG | CA1948009573 | TH | c.215_230delinsCCTTTGAGGAGAAGGA (p.Ala72=) c.91-52_91-37delinsCCTTTGAGGAGAAGGA (n.91-52_91-37delinsCCTTTGAGGAGAAGGA) c.103-52_103-37delinsCCTTTGAGGAGAAGGA (n.103-52_103-37delinsCCTTTGAGGAGAAGGA) c.296_311delinsCCTTTGAGGAGAAGGA (p.Ala99=) c.308_323delinsCCTTTGAGGAGAAGGA (p.Ala103=) c.227_242delinsCCTTTGAGGAGAAGGA (p.Ala76=) | |
| 11 | g.2169733C>A | CA379112277 | TH | c.229G>T (p.Glu77Ter) c.91-38G>T (n.91-38G>T) c.103-38G>T (n.103-38G>T) c.310G>T (p.Glu104Ter) c.322G>T (p.Glu108Ter) c.241G>T (p.Glu81Ter) | |
| 11 | g.2169733C= | CA1948009577 | TH | c.229G= (p.Glu77=) c.91-38G= (n.91-38G=) c.103-38G= (n.103-38G=) c.310G= (p.Glu104=) c.322G= (p.Glu108=) c.241G= (p.Glu81=) | |
| 11 | g.2169733C>G | CA379112278 | TH | c.229G>C (p.Glu77Gln) c.91-38G>C (n.91-38G>C) c.103-38G>C (n.103-38G>C) c.310G>C (p.Glu104Gln) c.322G>C (p.Glu108Gln) c.241G>C (p.Glu81Gln) | |
| 11 | g.2169733C>T | CA216227633 | TH | c.229G>A (p.Glu77Lys) c.91-38G>A (n.91-38G>A) c.103-38G>A (n.103-38G>A) c.310G>A (p.Glu104Lys) c.322G>A (p.Glu108Lys) c.241G>A (p.Glu81Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2169735_2169749del | CA597431705 | TH | c.215_229del (p.Ala72_Lys76del) c.91-52_91-38del (n.91-52_91-38del) c.103-52_103-38del (n.103-52_103-38del) c.296_310del (p.Ala99_Lys103del) c.308_322del (p.Ala103_Lys107del) c.227_241del (p.Ala76_Lys80del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169734C>A | CA379112279 | TH | c.228G>T (p.Lys76Asn) c.91-39G>T (n.91-39G>T) c.103-39G>T (n.103-39G>T) c.309G>T (p.Lys103Asn) c.321G>T (p.Lys107Asn) c.240G>T (p.Lys80Asn) | |
| 11 | g.2169734C>G | CA379112280 | TH | c.228G>C (p.Lys76Asn) c.91-39G>C (n.91-39G>C) c.103-39G>C (n.103-39G>C) c.309G>C (p.Lys103Asn) c.321G>C (p.Lys107Asn) c.240G>C (p.Lys80Asn) | |
| 11 | g.2169734C>T | CA472018827 | TH | c.228G>A (p.Lys76=) c.91-39G>A (n.91-39G>A) c.103-39G>A (n.103-39G>A) c.309G>A (p.Lys103=) c.321G>A (p.Lys107=) c.240G>A (p.Lys80=) | |
| 11 | g.2169736_2169738del | CA2611979781 | TH | c.226_228del (p.Lys76del) c.91-41_91-39del (n.91-41_91-39del) c.103-41_103-39del (n.103-41_103-39del) c.307_309del (p.Lys103del) c.319_321del (p.Lys107del) c.238_240del (p.Lys80del) | gnomAD v4 |
| 11 | g.2169735T>A | CA379112283 | TH | c.227A>T (p.Lys76Met) c.91-40A>T (n.91-40A>T) c.103-40A>T (n.103-40A>T) c.308A>T (p.Lys103Met) c.320A>T (p.Lys107Met) c.239A>T (p.Lys80Met) | |
| 11 | g.2169735T>C | CA379112282 | TH | c.227A>G (p.Lys76Arg) c.91-40A>G (n.91-40A>G) c.103-40A>G (n.103-40A>G) c.308A>G (p.Lys103Arg) c.320A>G (p.Lys107Arg) c.239A>G (p.Lys80Arg) | |
| 11 | g.2169735T>G | CA379112281 | TH | c.227A>C (p.Lys76Thr) c.91-40A>C (n.91-40A>C) c.103-40A>C (n.103-40A>C) c.308A>C (p.Lys103Thr) c.320A>C (p.Lys107Thr) c.239A>C (p.Lys80Thr) | |
| 11 | g.2169736T>A | CA379112284 | TH | c.226A>T (p.Lys76Ter) c.91-41A>T (n.91-41A>T) c.103-41A>T (n.103-41A>T) c.307A>T (p.Lys103Ter) c.319A>T (p.Lys107Ter) c.238A>T (p.Lys80Ter) | |
| 11 | g.2169736T>C | CA379112285 | TH | c.226A>G (p.Lys76Glu) c.91-41A>G (n.91-41A>G) c.103-41A>G (n.103-41A>G) c.307A>G (p.Lys103Glu) c.319A>G (p.Lys107Glu) c.238A>G (p.Lys80Glu) | |
| 11 | g.2169736T>G | CA379112286 | TH | c.226A>C (p.Lys76Gln) c.91-41A>C (n.91-41A>C) c.103-41A>C (n.103-41A>C) c.307A>C (p.Lys103Gln) c.319A>C (p.Lys107Gln) c.238A>C (p.Lys80Gln) | |
| 11 | g.2169737C>A | CA379112287 | TH | c.225G>T (p.Glu75Asp) c.91-42G>T (n.91-42G>T) c.103-42G>T (n.103-42G>T) c.306G>T (p.Glu102Asp) c.318G>T (p.Glu106Asp) c.237G>T (p.Glu79Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2169737C= | CA1948009579 | TH | c.225G= (p.Glu75=) c.91-42G= (n.91-42G=) c.103-42G= (n.103-42G=) c.306G= (p.Glu102=) c.318G= (p.Glu106=) c.237G= (p.Glu79=) | |
| 11 | g.2169737C>G | CA379112288 | TH | c.225G>C (p.Glu75Asp) c.91-42G>C (n.91-42G>C) c.103-42G>C (n.103-42G>C) c.306G>C (p.Glu102Asp) c.318G>C (p.Glu106Asp) c.237G>C (p.Glu79Asp) | |
| 11 | g.2169737C>T | CA5818754 | TH | c.225G>A (p.Glu75=) c.91-42G>A (n.91-42G>A) c.103-42G>A (n.103-42G>A) c.306G>A (p.Glu102=) c.318G>A (p.Glu106=) c.237G>A (p.Glu79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.2169740_2169742del | CA2580615596 | TH | c.223_225del (p.Glu75del) c.91-44_91-42del (n.91-44_91-42del) c.103-44_103-42del (n.103-44_103-42del) c.304_306del (p.Glu102del) c.316_318del (p.Glu106del) c.235_237del (p.Glu79del) | ClinVar dbSNP |
| 11 | g.2169738T>A | CA379112291 | TH | c.224A>T (p.Glu75Val) c.91-43A>T (n.91-43A>T) c.103-43A>T (n.103-43A>T) c.305A>T (p.Glu102Val) c.317A>T (p.Glu106Val) c.236A>T (p.Glu79Val) | |
| 11 | g.2169738T>C | CA379112289 | TH | c.224A>G (p.Glu75Gly) c.91-43A>G (n.91-43A>G) c.103-43A>G (n.103-43A>G) c.305A>G (p.Glu102Gly) c.317A>G (p.Glu106Gly) c.236A>G (p.Glu79Gly) | |
| 11 | g.2169738T>G | CA379112290 | TH | c.224A>C (p.Glu75Ala) c.91-43A>C (n.91-43A>C) c.103-43A>C (n.103-43A>C) c.305A>C (p.Glu102Ala) c.317A>C (p.Glu106Ala) c.236A>C (p.Glu79Ala) | |
| 11 | g.2169738_2169739insACG | CA891842417 | TH | c.223_224insCGT (p.Glu75AlafsTer2) c.91-44_91-43insCGT (n.91-44_91-43insCGT) c.103-44_103-43insCGT (n.103-44_103-43insCGT) c.304_305insCGT (p.Glu102AlafsTer2) c.316_317insCGT (p.Glu106AlafsTer2) c.235_236insCGT (p.Glu79AlafsTer2) | |
| 11 | g.2169739C>A | CA379112292 | TH | c.223G>T (p.Glu75Ter) c.91-44G>T (n.91-44G>T) c.103-44G>T (n.103-44G>T) c.304G>T (p.Glu102Ter) c.316G>T (p.Glu106Ter) c.235G>T (p.Glu79Ter) | |
| 11 | g.2169739C= | CA1948009583 | TH | c.223G= (p.Glu75=) c.91-44G= (n.91-44G=) c.103-44G= (n.103-44G=) c.304G= (p.Glu102=) c.316G= (p.Glu106=) c.235G= (p.Glu79=) | |
| 11 | g.2169739C>G | CA379112293 | TH | c.223G>C (p.Glu75Gln) c.91-44G>C (n.91-44G>C) c.103-44G>C (n.103-44G>C) c.304G>C (p.Glu102Gln) c.316G>C (p.Glu106Gln) c.235G>C (p.Glu79Gln) | |
| 11 | g.2169739C>T | CA379112294 | TH | c.223G>A (p.Glu75Lys) c.91-44G>A (n.91-44G>A) c.103-44G>A (n.103-44G>A) c.304G>A (p.Glu102Lys) c.316G>A (p.Glu106Lys) c.235G>A (p.Glu79Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.2169740C>A | CA379112295 | TH | c.222G>T (p.Glu74Asp) c.91-45G>T (n.91-45G>T) c.103-45G>T (n.103-45G>T) c.303G>T (p.Glu101Asp) c.315G>T (p.Glu105Asp) c.234G>T (p.Glu78Asp) | |
| 11 | g.2169740C= | CA1948009585 | TH | c.222G= (p.Glu74=) c.91-45G= (n.91-45G=) c.103-45G= (n.103-45G=) c.303G= (p.Glu101=) c.315G= (p.Glu105=) c.234G= (p.Glu78=) | |
| 11 | g.2169740C>G | CA5818755 | TH | c.222G>C (p.Glu74Asp) c.91-45G>C (n.91-45G>C) c.103-45G>C (n.103-45G>C) c.303G>C (p.Glu101Asp) c.315G>C (p.Glu105Asp) c.234G>C (p.Glu78Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2169740C>T | CA472018828 | TH | c.222G>A (p.Glu74=) c.91-45G>A (n.91-45G>A) c.103-45G>A (n.103-45G>A) c.303G>A (p.Glu101=) c.315G>A (p.Glu105=) c.234G>A (p.Glu78=) | COSMIC |
| 11 | g.2169741T>A | CA379112296 | TH | c.221A>T (p.Glu74Val) c.91-46A>T (n.91-46A>T) c.103-46A>T (n.103-46A>T) c.302A>T (p.Glu101Val) c.314A>T (p.Glu105Val) c.233A>T (p.Glu78Val) | |
| 11 | g.2169741T>C | CA379112297 | TH | c.221A>G (p.Glu74Gly) c.91-46A>G (n.91-46A>G) c.103-46A>G (n.103-46A>G) c.302A>G (p.Glu101Gly) c.314A>G (p.Glu105Gly) c.233A>G (p.Glu78Gly) | |
| 11 | g.2169741T>G | CA379112298 | TH | c.221A>C (p.Glu74Ala) c.91-46A>C (n.91-46A>C) c.103-46A>C (n.103-46A>C) c.302A>C (p.Glu101Ala) c.314A>C (p.Glu105Ala) c.233A>C (p.Glu78Ala) | |
| 11 | g.2169742C>A | CA379112299 | TH | c.220G>T (p.Glu74Ter) c.91-47G>T (n.91-47G>T) c.103-47G>T (n.103-47G>T) c.301G>T (p.Glu101Ter) c.313G>T (p.Glu105Ter) c.232G>T (p.Glu78Ter) | |
| 11 | g.2169742C= | CA1948009590 | TH | c.220G= (p.Glu74=) c.91-47G= (n.91-47G=) c.103-47G= (n.103-47G=) c.301G= (p.Glu101=) c.313G= (p.Glu105=) c.232G= (p.Glu78=) | |
| 11 | g.2169742C>G | CA5818756 | TH | c.220G>C (p.Glu74Gln) c.91-47G>C (n.91-47G>C) c.103-47G>C (n.103-47G>C) c.301G>C (p.Glu101Gln) c.313G>C (p.Glu105Gln) c.232G>C (p.Glu78Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169742C>T | CA379112300 | TH | c.220G>A (p.Glu74Lys) c.91-47G>A (n.91-47G>A) c.103-47G>A (n.103-47G>A) c.301G>A (p.Glu101Lys) c.313G>A (p.Glu105Lys) c.232G>A (p.Glu78Lys) | |
| 11 | g.2169743A>C | CA379112301 | TH | c.219T>G (p.Phe73Leu) c.91-48T>G (n.91-48T>G) c.103-48T>G (n.103-48T>G) c.300T>G (p.Phe100Leu) c.312T>G (p.Phe104Leu) c.231T>G (p.Phe77Leu) | |
| 11 | g.2169743A>G | CA472018829 | TH | c.219T>C (p.Phe73=) c.91-48T>C (n.91-48T>C) c.103-48T>C (n.103-48T>C) c.300T>C (p.Phe100=) c.312T>C (p.Phe104=) c.231T>C (p.Phe77=) | |
| 11 | g.2169743A>T | CA379112302 | TH | c.219T>A (p.Phe73Leu) c.91-48T>A (n.91-48T>A) c.103-48T>A (n.103-48T>A) c.300T>A (p.Phe100Leu) c.312T>A (p.Phe104Leu) c.231T>A (p.Phe77Leu) | |
| 11 | g.2169744A>C | CA379112303 | TH | c.218T>G (p.Phe73Cys) c.91-49T>G (n.91-49T>G) c.103-49T>G (n.103-49T>G) c.299T>G (p.Phe100Cys) c.311T>G (p.Phe104Cys) c.230T>G (p.Phe77Cys) | |
| 11 | g.2169744A>G | CA379112305 | TH | c.218T>C (p.Phe73Ser) c.91-49T>C (n.91-49T>C) c.103-49T>C (n.103-49T>C) c.299T>C (p.Phe100Ser) c.311T>C (p.Phe104Ser) c.230T>C (p.Phe77Ser) | |
| 11 | g.2169744A>T | CA379112304 | TH | c.218T>A (p.Phe73Tyr) c.91-49T>A (n.91-49T>A) c.103-49T>A (n.103-49T>A) c.299T>A (p.Phe100Tyr) c.311T>A (p.Phe104Tyr) c.230T>A (p.Phe77Tyr) | |
| 11 | g.2169745A= | CA1948009593 | TH | c.217T= (p.Phe73=) c.91-50T= (n.91-50T=) c.103-50T= (n.103-50T=) c.298T= (p.Phe100=) c.310T= (p.Phe104=) c.229T= (p.Phe77=) | |
| 11 | g.2169745A>C | CA379112306 | TH | c.217T>G (p.Phe73Val) c.91-50T>G (n.91-50T>G) c.103-50T>G (n.103-50T>G) c.298T>G (p.Phe100Val) c.310T>G (p.Phe104Val) c.229T>G (p.Phe77Val) | dbSNP |
| 11 | g.2169745A>G | CA5818757 | TH | c.217T>C (p.Phe73Leu) c.91-50T>C (n.91-50T>C) c.103-50T>C (n.103-50T>C) c.298T>C (p.Phe100Leu) c.310T>C (p.Phe104Leu) c.229T>C (p.Phe77Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169745A>T | CA379112307 | TH | c.217T>A (p.Phe73Ile) c.91-50T>A (n.91-50T>A) c.103-50T>A (n.103-50T>A) c.298T>A (p.Phe100Ile) c.310T>A (p.Phe104Ile) c.229T>A (p.Phe77Ile) | gnomAD v4 |
| 11 | g.2169746G>A | CA5818758 | TH | c.216C>T (p.Ala72=) c.91-51C>T (n.91-51C>T) c.103-51C>T (n.103-51C>T) c.297C>T (p.Ala99=) c.309C>T (p.Ala103=) c.228C>T (p.Ala76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2169746G>C | CA472018830 | TH | c.216C>G (p.Ala72=) c.91-51C>G (n.91-51C>G) c.103-51C>G (n.103-51C>G) c.297C>G (p.Ala99=) c.309C>G (p.Ala103=) c.228C>G (p.Ala76=) | |
| 11 | g.2169746G= | CA1948009595 | TH | c.216C= (p.Ala72=) c.91-51C= (n.91-51C=) c.103-51C= (n.103-51C=) c.297C= (p.Ala99=) c.309C= (p.Ala103=) c.228C= (p.Ala76=) | |
| 11 | g.2169746G>T | CA472018831 | TH | c.216C>A (p.Ala72=) c.91-51C>A (n.91-51C>A) c.103-51C>A (n.103-51C>A) c.297C>A (p.Ala99=) c.309C>A (p.Ala103=) c.228C>A (p.Ala76=) | |
| 11 | g.2169747G>A | CA379112308 | TH | c.215C>T (p.Ala72Val) c.91-52C>T (n.91-52C>T) c.103-52C>T (n.103-52C>T) c.296C>T (p.Ala99Val) c.308C>T (p.Ala103Val) c.227C>T (p.Ala76Val) | dbSNP gnomAD v4 |
| 11 | g.2169747G>C | CA379112309 | TH | c.215C>G (p.Ala72Gly) c.91-52C>G (n.91-52C>G) c.103-52C>G (n.103-52C>G) c.296C>G (p.Ala99Gly) c.308C>G (p.Ala103Gly) c.227C>G (p.Ala76Gly) | |
| 11 | g.2169747G= | CA1948009597 | TH | c.215C= (p.Ala72=) c.91-52C= (n.91-52C=) c.103-52C= (n.103-52C=) c.296C= (p.Ala99=) c.308C= (p.Ala103=) c.227C= (p.Ala76=) | |
| 11 | g.2169747G>T | CA379112310 | TH | c.215C>A (p.Ala72Asp) c.91-52C>A (n.91-52C>A) c.103-52C>A (n.103-52C>A) c.296C>A (p.Ala99Asp) c.308C>A (p.Ala103Asp) c.227C>A (p.Ala76Asp) | gnomAD v4 |
| 11 | g.2169748C>A | CA379112311 | TH | c.214G>T (p.Ala72Ser) c.91-53G>T (n.91-53G>T) c.103-53G>T (n.103-53G>T) c.295G>T (p.Ala99Ser) c.307G>T (p.Ala103Ser) c.226G>T (p.Ala76Ser) | |
| 11 | g.2169748C>G | CA379112312 | TH | c.214G>C (p.Ala72Pro) c.91-53G>C (n.91-53G>C) c.103-53G>C (n.103-53G>C) c.295G>C (p.Ala99Pro) c.307G>C (p.Ala103Pro) c.226G>C (p.Ala76Pro) | |
| 11 | g.2169748C>T | CA379112313 | TH | c.214G>A (p.Ala72Thr) c.91-53G>A (n.91-53G>A) c.103-53G>A (n.103-53G>A) c.295G>A (p.Ala99Thr) c.307G>A (p.Ala103Thr) c.226G>A (p.Ala76Thr) | gnomAD v4 |
| 11 | g.2169749C>A | CA472018832 | TH | c.213G>T (p.Val71=) c.91-54G>T (n.91-54G>T) c.103-54G>T (n.103-54G>T) c.294G>T (p.Val98=) c.306G>T (p.Val102=) c.225G>T (p.Val75=) | |
| 11 | g.2169749C>G | CA472018833 | TH | c.213G>C (p.Val71=) c.91-54G>C (n.91-54G>C) c.103-54G>C (n.103-54G>C) c.294G>C (p.Val98=) c.306G>C (p.Val102=) c.225G>C (p.Val75=) | |
| 11 | g.2169749C>T | CA472018834 | TH | c.213G>A (p.Val71=) c.91-54G>A (n.91-54G>A) c.103-54G>A (n.103-54G>A) c.294G>A (p.Val98=) c.306G>A (p.Val102=) c.225G>A (p.Val75=) | |
| 11 | g.2169749_2169750insCGCTGTCCCTCCTGGAGAAGAACCGTTTCCG | CA2611979831 | TH | c.212_213insCGGAAACGGTTCTTCTCCAGGAGGGACAGCG (p.Ala72GlyfsTer13) c.91-55_91-54insCGGAAACGGTTCTTCTCCAGGAGGGACAGCG (n.91-55_91-54insCGGAAACGGTTCTTCTCCAGGAGGGACAGCG) c.103-55_103-54insCGGAAACGGTTCTTCTCCAGGAGGGACAGCG (n.103-55_103-54insCGGAAACGGTTCTTCTCCAGGAGGGACAGCG) c.293_294insCGGAAACGGTTCTTCTCCAGGAGGGACAGCG (p.Ala99GlyfsTer13) c.305_306insCGGAAACGGTTCTTCTCCAGGAGGGACAGCG (p.Ala103GlyfsTer13) c.224_225insCGGAAACGGTTCTTCTCCAGGAGGGACAGCG (p.Ala76GlyfsTer13) | gnomAD v4 |
| 11 | g.2169750A= | CA1948009598 | TH | c.212T= (p.Val71=) c.91-55T= (n.91-55T=) c.103-55T= (n.103-55T=) c.293T= (p.Val98=) c.305T= (p.Val102=) c.224T= (p.Val75=) | |
| 11 | g.2169750A>C | CA379112314 | TH | c.212T>G (p.Val71Gly) c.91-55T>G (n.91-55T>G) c.103-55T>G (n.103-55T>G) c.293T>G (p.Val98Gly) c.305T>G (p.Val102Gly) c.224T>G (p.Val75Gly) | dbSNP |
| 11 | g.2169750A>G | CA379112315 | TH | c.212T>C (p.Val71Ala) c.91-55T>C (n.91-55T>C) c.103-55T>C (n.103-55T>C) c.293T>C (p.Val98Ala) c.305T>C (p.Val102Ala) c.224T>C (p.Val75Ala) | |
| 11 | g.2169750A>T | CA379112316 | TH | c.212T>A (p.Val71Glu) c.91-55T>A (n.91-55T>A) c.103-55T>A (n.103-55T>A) c.293T>A (p.Val98Glu) c.305T>A (p.Val102Glu) c.224T>A (p.Val75Glu) | |
| 11 | g.2169751C>A | CA379112319 | TH | c.211G>T (p.Val71Leu) c.91-56G>T (n.91-56G>T) c.103-56G>T (n.103-56G>T) c.292G>T (p.Val98Leu) c.304G>T (p.Val102Leu) c.223G>T (p.Val75Leu) | |
| 11 | g.2169751C= | CA1948009602 | TH | c.211G= (p.Val71=) c.91-56G= (n.91-56G=) c.103-56G= (n.103-56G=) c.292G= (p.Val98=) c.304G= (p.Val102=) c.223G= (p.Val75=) | |
| 11 | g.2169751C>G | CA379112318 | TH | c.211G>C (p.Val71Leu) c.91-56G>C (n.91-56G>C) c.103-56G>C (n.103-56G>C) c.292G>C (p.Val98Leu) c.304G>C (p.Val102Leu) c.223G>C (p.Val75Leu) | |
| 11 | g.2169751C>T | CA379112317 | TH | c.211G>A (p.Val71Met) c.91-56G>A (n.91-56G>A) c.103-56G>A (n.103-56G>A) c.292G>A (p.Val98Met) c.304G>A (p.Val102Met) c.223G>A (p.Val75Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2169752A= | CA1948009603 | TH | c.210T= (p.Ala70=) c.91-57T= (n.91-57T=) c.103-57T= (n.103-57T=) c.291T= (p.Ala97=) c.303T= (p.Ala101=) c.222T= (p.Ala74=) | |
| 11 | g.2169752A>C | CA472018835 | TH | c.210T>G (p.Ala70=) c.91-57T>G (n.91-57T>G) c.103-57T>G (n.103-57T>G) c.291T>G (p.Ala97=) c.303T>G (p.Ala101=) c.222T>G (p.Ala74=) | |
| 11 | g.2169752A>G | CA5818759 | TH | c.210T>C (p.Ala70=) c.91-57T>C (n.91-57T>C) c.103-57T>C (n.103-57T>C) c.291T>C (p.Ala97=) c.303T>C (p.Ala101=) c.222T>C (p.Ala74=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169752A>T | CA472018836 | TH | c.210T>A (p.Ala70=) c.91-57T>A (n.91-57T>A) c.103-57T>A (n.103-57T>A) c.291T>A (p.Ala97=) c.303T>A (p.Ala101=) c.222T>A (p.Ala74=) | |
| 11 | g.2169753G>A | CA379112320 | TH | c.209C>T (p.Ala70Val) c.91-58C>T (n.91-58C>T) c.103-58C>T (n.103-58C>T) c.290C>T (p.Ala97Val) c.302C>T (p.Ala101Val) c.221C>T (p.Ala74Val) | |
| 11 | g.2169753G>C | CA379112321 | TH | c.209C>G (p.Ala70Gly) c.91-58C>G (n.91-58C>G) c.103-58C>G (n.103-58C>G) c.290C>G (p.Ala97Gly) c.302C>G (p.Ala101Gly) c.221C>G (p.Ala74Gly) | |
| 11 | g.2169753G>T | CA379112322 | TH | c.209C>A (p.Ala70Asp) c.91-58C>A (n.91-58C>A) c.103-58C>A (n.103-58C>A) c.290C>A (p.Ala97Asp) c.302C>A (p.Ala101Asp) c.221C>A (p.Ala74Asp) | |
| 11 | g.2169753_2169754insGGCTTGGGGCTTCCTGTATCTGCTGGGCTTTCTGGTGTTGGCAGCCCAAGATGACAC | CA2790190851 | TH | c.208_209insGTGTCATCTTGGGCTGCCAACACCAGAAAGCCCAGCAGATACAGGAAGCCCCAAGCC (p.Ala70delinsGlyValIleLeuGlyCysGlnHisGlnLysAlaGlnGlnIleGlnGluAlaProSerPro) c.91-59_91-58insGTGTCATCTTGGGCTGCCAACACCAGAAAGCCCAGCAGATACAGGAAGCCCCAAGCC (n.91-59_91-58insGTGTCATCTTGGGCTGCCAACACCAGAAAGCCCAGCAGATACAGGAAGCCCCAAGCC) c.103-59_103-58insGTGTCATCTTGGGCTGCCAACACCAGAAAGCCCAGCAGATACAGGAAGCCCCAAGCC (n.103-59_103-58insGTGTCATCTTGGGCTGCCAACACCAGAAAGCCCAGCAGATACAGGAAGCCCCAAGCC) c.289_290insGTGTCATCTTGGGCTGCCAACACCAGAAAGCCCAGCAGATACAGGAAGCCCCAAGCC (p.Ala97delinsGlyValIleLeuGlyCysGlnHisGlnLysAlaGlnGlnIleGlnGluAlaProSerPro) c.301_302insGTGTCATCTTGGGCTGCCAACACCAGAAAGCCCAGCAGATACAGGAAGCCCCAAGCC (p.Ala101delinsGlyValIleLeuGlyCysGlnHisGlnLysAlaGlnGlnIleGlnGluAlaProSerPro) c.220_221insGTGTCATCTTGGGCTGCCAACACCAGAAAGCCCAGCAGATACAGGAAGCCCCAAGCC (p.Ala74delinsGlyValIleLeuGlyCysGlnHisGlnLysAlaGlnGlnIleGlnGluAlaProSerPro) | |
| 11 | g.2169754C>A | CA379112323 | TH | c.208G>T (p.Ala70Ser) c.91-59G>T (n.91-59G>T) c.103-59G>T (n.103-59G>T) c.289G>T (p.Ala97Ser) c.301G>T (p.Ala101Ser) c.220G>T (p.Ala74Ser) | |
| 11 | g.2169754C>G | CA379112324 | TH | c.208G>C (p.Ala70Pro) c.91-59G>C (n.91-59G>C) c.103-59G>C (n.103-59G>C) c.289G>C (p.Ala97Pro) c.301G>C (p.Ala101Pro) c.220G>C (p.Ala74Pro) | |
| 11 | g.2169754C>T | CA379112325 | TH | c.208G>A (p.Ala70Thr) c.91-59G>A (n.91-59G>A) c.103-59G>A (n.103-59G>A) c.289G>A (p.Ala97Thr) c.301G>A (p.Ala101Thr) c.220G>A (p.Ala74Thr) | |
| 11 | g.2169755C>A | CA379112326 | TH | c.207G>T (p.Glu69Asp) c.91-60G>T (n.91-60G>T) c.103-60G>T (n.103-60G>T) c.288G>T (p.Glu96Asp) c.300G>T (p.Glu100Asp) c.219G>T (p.Glu73Asp) | |
| 11 | g.2169755C>G | CA379112327 | TH | c.207G>C (p.Glu69Asp) c.91-60G>C (n.91-60G>C) c.103-60G>C (n.103-60G>C) c.288G>C (p.Glu96Asp) c.300G>C (p.Glu100Asp) c.219G>C (p.Glu73Asp) | |
| 11 | g.2169755C>T | CA472018837 | TH | c.207G>A (p.Glu69=) c.91-60G>A (n.91-60G>A) c.103-60G>A (n.103-60G>A) c.288G>A (p.Glu96=) c.300G>A (p.Glu100=) c.219G>A (p.Glu73=) | ClinVar dbSNP |
| 11 | g.2169756T>A | CA379112328 | TH | c.206A>T (p.Glu69Val) c.91-61A>T (n.91-61A>T) c.103-61A>T (n.103-61A>T) c.287A>T (p.Glu96Val) c.299A>T (p.Glu100Val) c.218A>T (p.Glu73Val) | |
| 11 | g.2169756T>C | CA379112329 | TH | c.206A>G (p.Glu69Gly) c.91-61A>G (n.91-61A>G) c.103-61A>G (n.103-61A>G) c.287A>G (p.Glu96Gly) c.299A>G (p.Glu100Gly) c.218A>G (p.Glu73Gly) | |
| 11 | g.2169756T>G | CA379112330 | TH | c.206A>C (p.Glu69Ala) c.91-61A>C (n.91-61A>C) c.103-61A>C (n.103-61A>C) c.287A>C (p.Glu96Ala) c.299A>C (p.Glu100Ala) c.218A>C (p.Glu73Ala) | dbSNP |
| 11 | g.2169757C>A | CA379112331 | TH | c.205G>T (p.Glu69Ter) c.91-62G>T (n.91-62G>T) c.103-62G>T (n.103-62G>T) c.286G>T (p.Glu96Ter) c.298G>T (p.Glu100Ter) c.217G>T (p.Glu73Ter) | |
| 11 | g.2169757C= | CA1948009605 | TH | c.205G= (p.Glu69=) c.91-62G= (n.91-62G=) c.103-62G= (n.103-62G=) c.286G= (p.Glu96=) c.298G= (p.Glu100=) c.217G= (p.Glu73=) | |
| 11 | g.2169757C>G | CA5818760 | TH | c.205G>C (p.Glu69Gln) c.91-62G>C (n.91-62G>C) c.103-62G>C (n.103-62G>C) c.286G>C (p.Glu96Gln) c.298G>C (p.Glu100Gln) c.217G>C (p.Glu73Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169757C>T | CA5818761 | TH | c.205G>A (p.Glu69Lys) c.91-62G>A (n.91-62G>A) c.103-62G>A (n.103-62G>A) c.286G>A (p.Glu96Lys) c.298G>A (p.Glu100Lys) c.217G>A (p.Glu73Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169758C>A | CA472018838 | TH | c.204G>T (p.Leu68=) c.91-63G>T (n.91-63G>T) c.103-63G>T (n.103-63G>T) c.285G>T (p.Leu95=) c.297G>T (p.Leu99=) c.216G>T (p.Leu72=) | |
| 11 | g.2169758C= | CA1948009610 | TH | c.204G= (p.Leu68=) c.91-63G= (n.91-63G=) c.103-63G= (n.103-63G=) c.285G= (p.Leu95=) c.297G= (p.Leu99=) c.216G= (p.Leu72=) | |
| 11 | g.2169758C>G | CA472018839 | TH | c.204G>C (p.Leu68=) c.91-63G>C (n.91-63G>C) c.103-63G>C (n.103-63G>C) c.285G>C (p.Leu95=) c.297G>C (p.Leu99=) c.216G>C (p.Leu72=) | |
| 11 | g.2169758C>T | CA472018840 | TH | c.204G>A (p.Leu68=) c.91-63G>A (n.91-63G>A) c.103-63G>A (n.103-63G>A) c.285G>A (p.Leu95=) c.297G>A (p.Leu99=) c.216G>A (p.Leu72=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.2169758_2169759del | CA912971948 | TH | c.203_204del (p.Leu68ArgfsTer6) c.91-64_91-63del (n.91-64_91-63del) c.103-64_103-63del (n.103-64_103-63del) c.284_285del (p.Leu95ArgfsTer6) c.296_297del (p.Leu99ArgfsTer6) c.215_216del (p.Leu72ArgfsTer6) | |
| 11 | g.2169758_2169759delinsCA | CA1948009611 | TH | c.203_204delinsTG (p.Leu68=) c.91-64_91-63delinsTG (n.91-64_91-63delinsTG) c.103-64_103-63delinsTG (n.103-64_103-63delinsTG) c.284_285delinsTG (p.Leu95=) c.296_297delinsTG (p.Leu99=) c.215_216delinsTG (p.Leu72=) |