| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2570701A= | CA1948239762 | KCNQ1 | c.290A= (p.Tyr97=) c.478-12734A= (n.478-12734A=) c.551A= (p.Tyr184=) c.170A= (p.Tyr57=) c.124-12734A= (n.124-12734A=) | |
| 11 | g.2570701A>C | CA007421 | KCNQ1 | c.290A>C (p.Tyr97Ser) c.478-12734A>C (n.478-12734A>C) c.551A>C (p.Tyr184Ser) c.170A>C (p.Tyr57Ser) c.124-12734A>C (n.124-12734A>C) | ClinVar dbSNP |
| 11 | g.2570701A>G | CA379129930 | KCNQ1 | c.290A>G (p.Tyr97Cys) c.478-12734A>G (n.478-12734A>G) c.551A>G (p.Tyr184Cys) c.170A>G (p.Tyr57Cys) c.124-12734A>G (n.124-12734A>G) | |
| 11 | g.2570701A>T | CA379129931 | KCNQ1 | c.290A>T (p.Tyr97Phe) c.478-12734A>T (n.478-12734A>T) c.551A>T (p.Tyr184Phe) c.170A>T (p.Tyr57Phe) c.124-12734A>T (n.124-12734A>T) | |
| 11 | g.2570701dup | CA305943 | KCNQ1 | c.290dup (p.Tyr97Ter) c.478-12734dup (n.478-12734dup) c.551dup (p.Tyr184Ter) c.170dup (p.Tyr57Ter) c.124-12734dup (n.124-12734dup) | ClinVar dbSNP |
| 11 | g.2570701_2570702delinsAC | CA1948239761 | KCNQ1 | c.290_291delinsAC (p.Tyr97=) c.478-12734_478-12733delinsAC (n.478-12734_478-12733delinsAC) c.551_552delinsAC (p.Tyr184=) c.170_171delinsAC (p.Tyr57=) c.124-12734_124-12733delinsAC (n.124-12734_124-12733delinsAC) | |
| 11 | g.2570702del | CA1139661773 | KCNQ1 | c.291del (p.Tyr97Ter) c.478-12733del (n.478-12733del) c.552del (p.Tyr184Ter) c.171del (p.Tyr57Ter) c.124-12733del (n.124-12733del) | ClinVar dbSNP |
| 11 | g.2570702C>A | CA379129932 | KCNQ1 | c.291C>A (p.Tyr97Ter) c.478-12733C>A (n.478-12733C>A) c.552C>A (p.Tyr184Ter) c.171C>A (p.Tyr57Ter) c.124-12733C>A (n.124-12733C>A) | |
| 11 | g.2570702C= | CA1948239765 | KCNQ1 | c.291C= (p.Tyr97=) c.478-12733C= (n.478-12733C=) c.552C= (p.Tyr184=) c.171C= (p.Tyr57=) c.124-12733C= (n.124-12733C=) | |
| 11 | g.2570702C>G | CA379129933 | KCNQ1 | c.291C>G (p.Tyr97Ter) c.478-12733C>G (n.478-12733C>G) c.552C>G (p.Tyr184Ter) c.171C>G (p.Tyr57Ter) c.124-12733C>G (n.124-12733C>G) | |
| 11 | g.2570702C>T | CA038315 | KCNQ1 | c.291C>T (p.Tyr97=) c.478-12733C>T (n.478-12733C>T) c.552C>T (p.Tyr184=) c.171C>T (p.Tyr57=) c.124-12733C>T (n.124-12733C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570704_2570725del | CA2580082606 | KCNQ1 | c.293_314del (p.Val98AlafsTer?) c.478-12731_478-12710del (n.478-12731_478-12710del) c.554_575del (p.Val185AlafsTer?) c.173_194del (p.Val58AlafsTer?) c.124-12731_124-12710del (n.124-12731_124-12710del) | ClinVar |
| 11 | g.2570703G>A | CA038335 | KCNQ1 | c.292G>A (p.Val98Met) c.478-12732G>A (n.478-12732G>A) c.553G>A (p.Val185Met) c.172G>A (p.Val58Met) c.124-12732G>A (n.124-12732G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.2570703G>C | CA038359 | KCNQ1 | c.292G>C (p.Val98Leu) c.478-12732G>C (n.478-12732G>C) c.553G>C (p.Val185Leu) c.172G>C (p.Val58Leu) c.124-12732G>C (n.124-12732G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2570703G= | CA1948239766 | KCNQ1 | c.292G= (p.Val98=) c.478-12732G= (n.478-12732G=) c.553G= (p.Val185=) c.172G= (p.Val58=) c.124-12732G= (n.124-12732G=) | |
| 11 | g.2570703G>T | CA379129934 | KCNQ1 | c.292G>T (p.Val98Leu) c.478-12732G>T (n.478-12732G>T) c.553G>T (p.Val185Leu) c.172G>T (p.Val58Leu) c.124-12732G>T (n.124-12732G>T) | |
| 11 | g.2570704T>A | CA379129935 | KCNQ1 | c.293T>A (p.Val98Glu) c.478-12731T>A (n.478-12731T>A) c.554T>A (p.Val185Glu) c.173T>A (p.Val58Glu) c.124-12731T>A (n.124-12731T>A) | |
| 11 | g.2570704T>C | CA379129937 | KCNQ1 | c.293T>C (p.Val98Ala) c.478-12731T>C (n.478-12731T>C) c.554T>C (p.Val185Ala) c.173T>C (p.Val58Ala) c.124-12731T>C (n.124-12731T>C) | |
| 11 | g.2570704T>G | CA379129936 | KCNQ1 | c.293T>G (p.Val98Gly) c.478-12731T>G (n.478-12731T>G) c.554T>G (p.Val185Gly) c.173T>G (p.Val58Gly) c.124-12731T>G (n.124-12731T>G) | |
| 11 | g.2570705_2570710del | CA2695213145 | KCNQ1 | c.294_299del (p.Gly99_Leu100del) c.478-12730_478-12725del (n.478-12730_478-12725del) c.555_560del (p.Gly186_Leu187del) c.174_179del (p.Gly59_Leu60del) c.124-12730_124-12725del (n.124-12730_124-12725del) | |
| 11 | g.2570705G>A | CA472037855 | KCNQ1 | c.294G>A (p.Val98=) c.478-12730G>A (n.478-12730G>A) c.555G>A (p.Val185=) c.174G>A (p.Val58=) c.124-12730G>A (n.124-12730G>A) | |
| 11 | g.2570705G>C | CA472037856 | KCNQ1 | c.294G>C (p.Val98=) c.478-12730G>C (n.478-12730G>C) c.555G>C (p.Val185=) c.174G>C (p.Val58=) c.124-12730G>C (n.124-12730G>C) | |
| 11 | g.2570705G>T | CA472037857 | KCNQ1 | c.294G>T (p.Val98=) c.478-12730G>T (n.478-12730G>T) c.555G>T (p.Val185=) c.174G>T (p.Val58=) c.124-12730G>T (n.124-12730G>T) | gnomAD v4 |
| 11 | g.2570706G>A | CA007432 | KCNQ1 | c.295G>A (p.Gly99Ser) c.478-12729G>A (n.478-12729G>A) c.556G>A (p.Gly186Ser) c.175G>A (p.Gly59Ser) c.124-12729G>A (n.124-12729G>A) | ClinVar dbSNP |
| 11 | g.2570706G>C | CA007440 | KCNQ1 | c.295G>C (p.Gly99Arg) c.478-12729G>C (n.478-12729G>C) c.556G>C (p.Gly186Arg) c.175G>C (p.Gly59Arg) c.124-12729G>C (n.124-12729G>C) | ClinVar dbSNP |
| 11 | g.2570706G= | CA1948239767 | KCNQ1 | c.295G= (p.Gly99=) c.478-12729G= (n.478-12729G=) c.556G= (p.Gly186=) c.175G= (p.Gly59=) c.124-12729G= (n.124-12729G=) | |
| 11 | g.2570706G>T | CA379129938 | KCNQ1 | c.295G>T (p.Gly99Cys) c.478-12729G>T (n.478-12729G>T) c.556G>T (p.Gly186Cys) c.175G>T (p.Gly59Cys) c.124-12729G>T (n.124-12729G>T) | ClinVar dbSNP |
| 11 | g.2570706_2570711del | CA2695213146 | KCNQ1 | c.295_300del (p.Gly99_Leu100del) c.478-12729_478-12724del (n.478-12729_478-12724del) c.556_561del (p.Gly186_Leu187del) c.175_180del (p.Gly59_Leu60del) c.124-12729_124-12724del (n.124-12729_124-12724del) | |
| 11 | g.2570707G>A | CA10575751 | KCNQ1 | c.296G>A (p.Gly99Asp) c.478-12728G>A (n.478-12728G>A) c.557G>A (p.Gly186Asp) c.176G>A (p.Gly59Asp) c.124-12728G>A (n.124-12728G>A) | ClinVar dbSNP |
| 11 | g.2570707G>C | CA379129939 | KCNQ1 | c.296G>C (p.Gly99Ala) c.478-12728G>C (n.478-12728G>C) c.557G>C (p.Gly186Ala) c.176G>C (p.Gly59Ala) c.124-12728G>C (n.124-12728G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570707G= | CA1948239776 | KCNQ1 | c.296G= (p.Gly99=) c.478-12728G= (n.478-12728G=) c.557G= (p.Gly186=) c.176G= (p.Gly59=) c.124-12728G= (n.124-12728G=) | |
| 11 | g.2570707G>T | CA007449 | KCNQ1 | c.296G>T (p.Gly99Val) c.478-12728G>T (n.478-12728G>T) c.557G>T (p.Gly186Val) c.176G>T (p.Gly59Val) c.124-12728G>T (n.124-12728G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570708C>A | CA038388 | KCNQ1 | c.297C>A (p.Gly99=) c.478-12727C>A (n.478-12727C>A) c.558C>A (p.Gly186=) c.177C>A (p.Gly59=) c.124-12727C>A (n.124-12727C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2570708C= | CA1948239783 | KCNQ1 | c.297C= (p.Gly99=) c.478-12727C= (n.478-12727C=) c.558C= (p.Gly186=) c.177C= (p.Gly59=) c.124-12727C= (n.124-12727C=) | |
| 11 | g.2570708C>G | CA472037858 | KCNQ1 | c.297C>G (p.Gly99=) c.478-12727C>G (n.478-12727C>G) c.558C>G (p.Gly186=) c.177C>G (p.Gly59=) c.124-12727C>G (n.124-12727C>G) | |
| 11 | g.2570708C>T | CA472037859 | KCNQ1 | c.297C>T (p.Gly99=) c.478-12727C>T (n.478-12727C>T) c.558C>T (p.Gly186=) c.177C>T (p.Gly59=) c.124-12727C>T (n.124-12727C>T) | |
| 11 | g.2570709C>A | CA379129940 | KCNQ1 | c.298C>A (p.Leu100Ile) c.478-12726C>A (n.478-12726C>A) c.559C>A (p.Leu187Ile) c.178C>A (p.Leu60Ile) c.124-12726C>A (n.124-12726C>A) | |
| 11 | g.2570709C= | CA1948239787 | KCNQ1 | c.298C= (p.Leu100=) c.478-12726C= (n.478-12726C=) c.559C= (p.Leu187=) c.178C= (p.Leu60=) c.124-12726C= (n.124-12726C=) | |
| 11 | g.2570709C>G | CA379129941 | KCNQ1 | c.298C>G (p.Leu100Val) c.478-12726C>G (n.478-12726C>G) c.559C>G (p.Leu187Val) c.178C>G (p.Leu60Val) c.124-12726C>G (n.124-12726C>G) | |
| 11 | g.2570709C>T | CA379129942 | KCNQ1 | c.298C>T (p.Leu100Phe) c.478-12726C>T (n.478-12726C>T) c.559C>T (p.Leu187Phe) c.178C>T (p.Leu60Phe) c.124-12726C>T (n.124-12726C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570710T>A | CA379129944 | KCNQ1 | c.299T>A (p.Leu100His) c.478-12725T>A (n.478-12725T>A) c.560T>A (p.Leu187His) c.179T>A (p.Leu60His) c.124-12725T>A (n.124-12725T>A) | |
| 11 | g.2570710T>C | CA007460 | KCNQ1 | c.299T>C (p.Leu100Pro) c.478-12725T>C (n.478-12725T>C) c.560T>C (p.Leu187Pro) c.179T>C (p.Leu60Pro) c.124-12725T>C (n.124-12725T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2570710T>G | CA379129943 | KCNQ1 | c.299T>G (p.Leu100Arg) c.478-12725T>G (n.478-12725T>G) c.560T>G (p.Leu187Arg) c.179T>G (p.Leu60Arg) c.124-12725T>G (n.124-12725T>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570710T= | CA1948239792 | KCNQ1 | c.299T= (p.Leu100=) c.478-12725T= (n.478-12725T=) c.560T= (p.Leu187=) c.179T= (p.Leu60=) c.124-12725T= (n.124-12725T=) | |
| 11 | g.2570711C>A | CA472037862 | KCNQ1 | c.300C>A (p.Leu100=) c.478-12724C>A (n.478-12724C>A) c.561C>A (p.Leu187=) c.180C>A (p.Leu60=) c.124-12724C>A (n.124-12724C>A) | |
| 11 | g.2570711C>G | CA472037863 | KCNQ1 | c.300C>G (p.Leu100=) c.478-12724C>G (n.478-12724C>G) c.561C>G (p.Leu187=) c.180C>G (p.Leu60=) c.124-12724C>G (n.124-12724C>G) | |
| 11 | g.2570711C>T | CA472037864 | KCNQ1 | c.300C>T (p.Leu100=) c.478-12724C>T (n.478-12724C>T) c.561C>T (p.Leu187=) c.180C>T (p.Leu60=) c.124-12724C>T (n.124-12724C>T) | |
| 11 | g.2570711_2570712delinsCT | CA1948239796 | KCNQ1 | c.300_301delinsCT (p.Leu100=) c.478-12724_478-12723delinsCT (n.478-12724_478-12723delinsCT) c.561_562delinsCT (p.Leu187=) c.180_181delinsCT (p.Leu60=) c.124-12724_124-12723delinsCT (n.124-12724_124-12723delinsCT) | |
| 11 | g.2570712del | CA007472 | KCNQ1 | c.301del (p.Trp101GlyfsTer?) c.478-12723del (n.478-12723del) c.562del (p.Trp188GlyfsTer?) c.181del (p.Trp61GlyfsTer?) c.124-12723del (n.124-12723del) | ClinVar dbSNP |
| 11 | g.2570712T>A | CA379129945 | KCNQ1 | c.301T>A (p.Trp101Arg) c.478-12723T>A (n.478-12723T>A) c.562T>A (p.Trp188Arg) c.181T>A (p.Trp61Arg) c.124-12723T>A (n.124-12723T>A) |