| 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.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.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=) |