Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2527962G>A | CA007045 | KCNQ1 | n.218G>A c.160G>A (p.Val54Met) c.421G>A (p.Val141Met) c.40G>A (p.Val14Met) c.67G>A (p.Val23Met) n.290G>A c.211G>A (p.Val71Met) | ClinVar dbSNP |
11 | g.2527962G>C | CA379121377 | KCNQ1 | n.218G>C c.160G>C (p.Val54Leu) c.421G>C (p.Val141Leu) c.40G>C (p.Val14Leu) c.67G>C (p.Val23Leu) n.290G>C c.211G>C (p.Val71Leu) | |
11 | g.2527962G= | CA1948196758 | KCNQ1 | n.218G= c.160G= (p.Val54=) c.421G= (p.Val141=) c.40G= (p.Val14=) c.67G= (p.Val23=) n.290G= c.211G= (p.Val71=) | |
11 | g.2527962G>T | CA379121378 | KCNQ1 | n.218G>T c.160G>T (p.Val54Leu) c.421G>T (p.Val141Leu) c.40G>T (p.Val14Leu) c.67G>T (p.Val23Leu) n.290G>T c.211G>T (p.Val71Leu) | |
11 | g.2527963T>A | CA379121379 | KCNQ1 | n.219T>A c.161T>A (p.Val54Glu) c.422T>A (p.Val141Glu) c.41T>A (p.Val14Glu) c.68T>A (p.Val23Glu) n.291T>A c.212T>A (p.Val71Glu) | |
11 | g.2527963T>C | CA379121382 | KCNQ1 | n.219T>C c.161T>C (p.Val54Ala) c.422T>C (p.Val141Ala) c.41T>C (p.Val14Ala) c.68T>C (p.Val23Ala) n.291T>C c.212T>C (p.Val71Ala) | |
11 | g.2527963T>G | CA379121384 | KCNQ1 | n.219T>G c.161T>G (p.Val54Gly) c.422T>G (p.Val141Gly) c.41T>G (p.Val14Gly) c.68T>G (p.Val23Gly) n.291T>G c.212T>G (p.Val71Gly) | |
11 | g.2527964G>A | CA472038233 | KCNQ1 | n.220G>A c.162G>A (p.Val54=) c.423G>A (p.Val141=) c.42G>A (p.Val14=) c.69G>A (p.Val23=) n.292G>A c.213G>A (p.Val71=) | |
11 | g.2527964G>C | CA472038234 | KCNQ1 | n.220G>C c.162G>C (p.Val54=) c.423G>C (p.Val141=) c.42G>C (p.Val14=) c.69G>C (p.Val23=) n.292G>C c.213G>C (p.Val71=) | |
11 | g.2527964G>T | CA472038235 | KCNQ1 | n.220G>T c.162G>T (p.Val54=) c.423G>T (p.Val141=) c.42G>T (p.Val14=) c.69G>T (p.Val23=) n.292G>T c.213G>T (p.Val71=) | |
11 | g.2527966_2527980del | CA2612002633 | KCNQ1 | c.164_178del (p.Leu55_Glu59del) c.425_439del (p.Leu142_Glu146del) c.44_58del (p.Leu15_Glu19del) c.71_85del (p.Leu24_Glu28del) | gnomAD v4 |
11 | g.2527965C>A | CA379121386 | KCNQ1 | n.221C>A c.163C>A (p.Leu55Met) c.424C>A (p.Leu142Met) c.43C>A (p.Leu15Met) c.70C>A (p.Leu24Met) n.293C>A c.214C>A (p.Leu72Met) | |
11 | g.2527965C>G | CA379121388 | KCNQ1 | n.221C>G c.163C>G (p.Leu55Val) c.424C>G (p.Leu142Val) c.43C>G (p.Leu15Val) c.70C>G (p.Leu24Val) n.293C>G c.214C>G (p.Leu72Val) | |
11 | g.2527965C>T | CA472038236 | KCNQ1 | n.221C>T c.163C>T (p.Leu55=) c.424C>T (p.Leu142=) c.43C>T (p.Leu15=) c.70C>T (p.Leu24=) n.293C>T c.214C>T (p.Leu72=) | |
11 | g.2527965_2527966delinsCT | CA1948196759 | KCNQ1 | n.221_222delinsCT c.163_164delinsCT (p.Leu55=) c.424_425delinsCT (p.Leu142=) c.43_44delinsCT (p.Leu15=) c.70_71delinsCT (p.Leu24=) n.293_294delinsCT c.214_215delinsCT (p.Leu72=) | |
11 | g.2527966del | CA007054 | KCNQ1 | n.222del c.164del (p.Leu55ArgfsTer?) c.425del (p.Leu142ArgfsTer?) c.44del (p.Leu15ArgfsTer?) c.71del (p.Leu24ArgfsTer?) n.294del c.215del (p.Leu72ArgfsTer?) | ClinVar dbSNP |
11 | g.2527966T>A | CA379121391 | KCNQ1 | n.222T>A c.164T>A (p.Leu55Gln) c.425T>A (p.Leu142Gln) c.44T>A (p.Leu15Gln) c.71T>A (p.Leu24Gln) n.294T>A c.215T>A (p.Leu72Gln) | |
11 | g.2527966T>C | CA379121401 | KCNQ1 | n.222T>C c.164T>C (p.Leu55Pro) c.425T>C (p.Leu142Pro) c.44T>C (p.Leu15Pro) c.71T>C (p.Leu24Pro) n.294T>C c.215T>C (p.Leu72Pro) | |
11 | g.2527966T>G | CA379121404 | KCNQ1 | n.222T>G c.164T>G (p.Leu55Arg) c.425T>G (p.Leu142Arg) c.44T>G (p.Leu15Arg) c.71T>G (p.Leu24Arg) n.294T>G c.215T>G (p.Leu72Arg) | |
11 | g.2527967G>A | CA472038237 | KCNQ1 | n.223G>A c.165G>A (p.Leu55=) c.426G>A (p.Leu142=) c.45G>A (p.Leu15=) c.72G>A (p.Leu24=) n.295G>A c.216G>A (p.Leu72=) | ClinVar |
11 | g.2527967G>C | CA472038239 | KCNQ1 | n.223G>C c.165G>C (p.Leu55=) c.426G>C (p.Leu142=) c.45G>C (p.Leu15=) c.72G>C (p.Leu24=) n.295G>C c.216G>C (p.Leu72=) | ClinVar gnomAD v4 |
11 | g.2527967G>T | CA472038238 | KCNQ1 | n.223G>T c.165G>T (p.Leu55=) c.426G>T (p.Leu142=) c.45G>T (p.Leu15=) c.72G>T (p.Leu24=) n.295G>T c.216G>T (p.Leu72=) | |
11 | g.2527968T>A | CA379121409 | KCNQ1 | n.224T>A c.166T>A (p.Ser56Thr) c.427T>A (p.Ser143Thr) c.46T>A (p.Ser16Thr) c.73T>A (p.Ser25Thr) n.296T>A c.217T>A (p.Ser73Thr) | |
11 | g.2527968T>C | CA379121411 | KCNQ1 | n.224T>C c.166T>C (p.Ser56Pro) c.427T>C (p.Ser143Pro) c.46T>C (p.Ser16Pro) c.73T>C (p.Ser25Pro) n.296T>C c.217T>C (p.Ser73Pro) | |
11 | g.2527968T>G | CA379121413 | KCNQ1 | n.224T>G c.166T>G (p.Ser56Ala) c.427T>G (p.Ser143Ala) c.46T>G (p.Ser16Ala) c.73T>G (p.Ser25Ala) n.296T>G c.217T>G (p.Ser73Ala) | |
11 | g.2527969C>A | CA379121417 | KCNQ1 | n.225C>A c.167C>A (p.Ser56Tyr) c.428C>A (p.Ser143Tyr) c.47C>A (p.Ser16Tyr) c.74C>A (p.Ser25Tyr) n.297C>A c.218C>A (p.Ser73Tyr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2527969C= | CA1948196760 | KCNQ1 | n.225C= c.167C= (p.Ser56=) c.428C= (p.Ser143=) c.47C= (p.Ser16=) c.74C= (p.Ser25=) n.297C= c.218C= (p.Ser73=) | |
11 | g.2527969C>G | CA379121419 | KCNQ1 | n.225C>G c.167C>G (p.Ser56Cys) c.428C>G (p.Ser143Cys) c.47C>G (p.Ser16Cys) c.74C>G (p.Ser25Cys) n.297C>G c.218C>G (p.Ser73Cys) | |
11 | g.2527969C>T | CA007061 | KCNQ1 | n.225C>T c.167C>T (p.Ser56Phe) c.428C>T (p.Ser143Phe) c.47C>T (p.Ser16Phe) c.74C>T (p.Ser25Phe) n.297C>T c.218C>T (p.Ser73Phe) | ClinVar dbSNP |
11 | g.2527970C>A | CA472038240 | KCNQ1 | n.226C>A c.168C>A (p.Ser56=) c.429C>A (p.Ser143=) c.48C>A (p.Ser16=) c.75C>A (p.Ser25=) n.298C>A c.219C>A (p.Ser73=) | |
11 | g.2527970C>G | CA472038241 | KCNQ1 | n.226C>G c.168C>G (p.Ser56=) c.429C>G (p.Ser143=) c.48C>G (p.Ser16=) c.75C>G (p.Ser25=) n.298C>G c.219C>G (p.Ser73=) | |
11 | g.2527970C>T | CA472038242 | KCNQ1 | n.226C>T c.168C>T (p.Ser56=) c.429C>T (p.Ser143=) c.48C>T (p.Ser16=) c.75C>T (p.Ser25=) n.298C>T c.219C>T (p.Ser73=) | |
11 | g.2527971A= | CA1948196761 | KCNQ1 | n.227A= c.169A= (p.Thr57=) c.430A= (p.Thr144=) c.49A= (p.Thr17=) c.76A= (p.Thr26=) n.299A= c.220A= (p.Thr74=) | |
11 | g.2527971A>C | CA379121423 | KCNQ1 | n.227A>C c.169A>C (p.Thr57Pro) c.430A>C (p.Thr144Pro) c.49A>C (p.Thr17Pro) c.76A>C (p.Thr26Pro) n.299A>C c.220A>C (p.Thr74Pro) | |
11 | g.2527971A>G | CA007072 | KCNQ1 | n.227A>G c.169A>G (p.Thr57Ala) c.430A>G (p.Thr144Ala) c.49A>G (p.Thr17Ala) c.76A>G (p.Thr26Ala) n.299A>G c.220A>G (p.Thr74Ala) | ClinVar dbSNP gnomAD v4 |
11 | g.2527971A>T | CA379121424 | KCNQ1 | n.227A>T c.169A>T (p.Thr57Ser) c.430A>T (p.Thr144Ser) c.49A>T (p.Thr17Ser) c.76A>T (p.Thr26Ser) n.299A>T c.220A>T (p.Thr74Ser) | |
11 | g.2527972C>A | CA379121427 | KCNQ1 | n.228C>A c.170C>A (p.Thr57Asn) c.431C>A (p.Thr144Asn) c.50C>A (p.Thr17Asn) c.77C>A (p.Thr26Asn) n.300C>A c.221C>A (p.Thr74Asn) | |
11 | g.2527972C>G | CA379121433 | KCNQ1 | n.228C>G c.170C>G (p.Thr57Ser) c.431C>G (p.Thr144Ser) c.50C>G (p.Thr17Ser) c.77C>G (p.Thr26Ser) n.300C>G c.221C>G (p.Thr74Ser) | |
11 | g.2527972C>T | CA379121429 | KCNQ1 | n.228C>T c.170C>T (p.Thr57Ile) c.431C>T (p.Thr144Ile) c.50C>T (p.Thr17Ile) c.77C>T (p.Thr26Ile) n.300C>T c.221C>T (p.Thr74Ile) | |
11 | g.2527973del | CA2695212957 | KCNQ1 | n.229del c.171del (p.Ile58SerfsTer?) c.432del (p.Ile145SerfsTer?) c.51del (p.Ile18SerfsTer?) c.78del (p.Ile27SerfsTer?) n.301del c.222del (p.Thr74=) | |
11 | g.2527973C>A | CA472038243 | KCNQ1 | n.229C>A c.171C>A (p.Thr57=) c.432C>A (p.Thr144=) c.51C>A (p.Thr17=) c.78C>A (p.Thr26=) n.301C>A c.222C>A (p.Thr74=) | |
11 | g.2527973C>G | CA472038244 | KCNQ1 | n.229C>G c.171C>G (p.Thr57=) c.432C>G (p.Thr144=) c.51C>G (p.Thr17=) c.78C>G (p.Thr26=) n.301C>G c.222C>G (p.Thr74=) | |
11 | g.2527973C>T | CA472038245 | KCNQ1 | n.229C>T c.171C>T (p.Thr57=) c.432C>T (p.Thr144=) c.51C>T (p.Thr17=) c.78C>T (p.Thr26=) n.301C>T c.222C>T (p.Thr74=) | |
11 | g.2527974A= | CA1948196762 | KCNQ1 | c.172A= (p.Ile58=) c.433A= (p.Ile145=) c.52A= (p.Ile18=) c.79A= (p.Ile27=) n.302A= | |
11 | g.2527974A>C | CA379121448 | KCNQ1 | c.172A>C (p.Ile58Leu) c.433A>C (p.Ile145Leu) c.52A>C (p.Ile18Leu) c.79A>C (p.Ile27Leu) n.302A>C | dbSNP |
11 | g.2527974A>G | CA379121450 | KCNQ1 | c.172A>G (p.Ile58Val) c.433A>G (p.Ile145Val) c.52A>G (p.Ile18Val) c.79A>G (p.Ile27Val) n.302A>G | |
11 | g.2527974A>T | CA379121451 | KCNQ1 | c.172A>T (p.Ile58Phe) c.433A>T (p.Ile145Phe) c.52A>T (p.Ile18Phe) c.79A>T (p.Ile27Phe) n.302A>T | |
11 | g.2527975T>A | CA379121453 | KCNQ1 | c.173T>A (p.Ile58Asn) c.434T>A (p.Ile145Asn) c.53T>A (p.Ile18Asn) c.80T>A (p.Ile27Asn) n.303T>A | |
11 | g.2527975T>C | CA379121456 | KCNQ1 | c.173T>C (p.Ile58Thr) c.434T>C (p.Ile145Thr) c.53T>C (p.Ile18Thr) c.80T>C (p.Ile27Thr) n.303T>C | gnomAD v4 |
11 | g.2527975T>G | CA379121459 | KCNQ1 | c.173T>G (p.Ile58Ser) c.434T>G (p.Ile145Ser) c.53T>G (p.Ile18Ser) c.80T>G (p.Ile27Ser) n.303T>G | |
11 | g.2527976C>A | CA472038246 | KCNQ1 | c.174C>A (p.Ile58=) c.435C>A (p.Ile145=) c.54C>A (p.Ile18=) c.81C>A (p.Ile27=) n.304C>A | gnomAD v4 |
11 | g.2527976C= | CA1948196763 | KCNQ1 | c.174C= (p.Ile58=) c.435C= (p.Ile145=) c.54C= (p.Ile18=) c.81C= (p.Ile27=) n.304C= | |
11 | g.2527976C>G | CA379121463 | KCNQ1 | c.174C>G (p.Ile58Met) c.435C>G (p.Ile145Met) c.54C>G (p.Ile18Met) c.81C>G (p.Ile27Met) n.304C>G | |
11 | g.2527976C>T | CA007082 | KCNQ1 | c.174C>T (p.Ile58=) c.435C>T (p.Ile145=) c.54C>T (p.Ile18=) c.81C>T (p.Ile27=) n.304C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2527977G>A | CA007090 | KCNQ1 | c.175G>A (p.Glu59Lys) c.436G>A (p.Glu146Lys) c.55G>A (p.Glu19Lys) c.82G>A (p.Glu28Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.2527977G>C | CA379121473 | KCNQ1 | c.175G>C (p.Glu59Gln) c.436G>C (p.Glu146Gln) c.55G>C (p.Glu19Gln) c.82G>C (p.Glu28Gln) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2527977G= | CA1948196764 | KCNQ1 | c.175G= (p.Glu59=) c.436G= (p.Glu146=) c.55G= (p.Glu19=) c.82G= (p.Glu28=) | |
11 | g.2527977G>T | CA379121484 | KCNQ1 | c.175G>T (p.Glu59Ter) c.436G>T (p.Glu146Ter) c.55G>T (p.Glu19Ter) c.82G>T (p.Glu28Ter) | |
11 | g.2527978A= | CA1948196765 | KCNQ1 | c.176A= (p.Glu59=) c.437A= (p.Glu146=) c.56A= (p.Glu19=) c.83A= (p.Glu28=) | |
11 | g.2527978A>C | CA379121891 | KCNQ1 | c.176A>C (p.Glu59Ala) c.437A>C (p.Glu146Ala) c.56A>C (p.Glu19Ala) c.83A>C (p.Glu28Ala) | |
11 | g.2527978A>G | CA16619306 | KCNQ1 | c.176A>G (p.Glu59Gly) c.437A>G (p.Glu146Gly) c.56A>G (p.Glu19Gly) c.83A>G (p.Glu28Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2527978A>T | CA379121893 | KCNQ1 | c.176A>T (p.Glu59Val) c.437A>T (p.Glu146Val) c.56A>T (p.Glu19Val) c.83A>T (p.Glu28Val) | |
11 | g.2527979G>A | CA472038254 | KCNQ1 | c.177G>A (p.Glu59=) c.438G>A (p.Glu146=) c.57G>A (p.Glu19=) c.84G>A (p.Glu28=) | gnomAD v4 |
11 | g.2527979G>C | CA379121894 | KCNQ1 | c.177G>C (p.Glu59Asp) c.438G>C (p.Glu146Asp) c.57G>C (p.Glu19Asp) c.84G>C (p.Glu28Asp) | |
11 | g.2527979G>T | CA379121895 | KCNQ1 | c.177G>T (p.Glu59Asp) c.438G>T (p.Glu146Asp) c.57G>T (p.Glu19Asp) c.84G>T (p.Glu28Asp) | |
11 | g.2527980C>A | CA379121896 | KCNQ1 | c.178C>A (p.Gln60Lys) c.439C>A (p.Gln147Lys) c.58C>A (p.Gln20Lys) c.85C>A (p.Gln29Lys) | |
11 | g.2527980C>G | CA379121898 | KCNQ1 | c.178C>G (p.Gln60Glu) c.439C>G (p.Gln147Glu) c.58C>G (p.Gln20Glu) c.85C>G (p.Gln29Glu) | |
11 | g.2527980C>T | CA379121901 | KCNQ1 | c.178C>T (p.Gln60Ter) c.439C>T (p.Gln147Ter) c.58C>T (p.Gln20Ter) c.85C>T (p.Gln29Ter) | |
11 | g.2527981A= | CA1948196766 | KCNQ1 | c.179A= (p.Gln60=) c.440A= (p.Gln147=) c.59A= (p.Gln20=) c.86A= (p.Gln29=) | |
11 | g.2527981A>C | CA379121910 | KCNQ1 | c.179A>C (p.Gln60Pro) c.440A>C (p.Gln147Pro) c.59A>C (p.Gln20Pro) c.86A>C (p.Gln29Pro) | |
11 | g.2527981A>G | CA007099 | KCNQ1 | c.179A>G (p.Gln60Arg) c.440A>G (p.Gln147Arg) c.59A>G (p.Gln20Arg) c.86A>G (p.Gln29Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2527981A>T | CA379121912 | KCNQ1 | c.179A>T (p.Gln60Leu) c.440A>T (p.Gln147Leu) c.59A>T (p.Gln20Leu) c.86A>T (p.Gln29Leu) | ClinVar dbSNP |
11 | g.2527982G>A | CA472038255 | KCNQ1 | c.180G>A (p.Gln60=) c.441G>A (p.Gln147=) c.60G>A (p.Gln20=) c.87G>A (p.Gln29=) | |
11 | g.2527982G>C | CA379121914 | KCNQ1 | c.180G>C (p.Gln60His) c.441G>C (p.Gln147His) c.60G>C (p.Gln20His) c.87G>C (p.Gln29His) | |
11 | g.2527982G>T | CA379121916 | KCNQ1 | c.180G>T (p.Gln60His) c.441G>T (p.Gln147His) c.60G>T (p.Gln20His) c.87G>T (p.Gln29His) | |
11 | g.2527983T>A | CA379121917 | KCNQ1 | c.181T>A (p.Tyr61Asn) c.442T>A (p.Tyr148Asn) c.61T>A (p.Tyr21Asn) c.88T>A (p.Tyr30Asn) | |
11 | g.2527983T>C | CA379121918 | KCNQ1 | c.181T>C (p.Tyr61His) c.442T>C (p.Tyr148His) c.61T>C (p.Tyr21His) c.88T>C (p.Tyr30His) | |
11 | g.2527983T>G | CA379121921 | KCNQ1 | c.181T>G (p.Tyr61Asp) c.442T>G (p.Tyr148Asp) c.61T>G (p.Tyr21Asp) c.88T>G (p.Tyr30Asp) | |
11 | g.2527983_2527984delinsTA | CA1948196767 | KCNQ1 | c.181_182delinsTA (p.Tyr61=) c.442_443delinsTA (p.Tyr148=) c.61_62delinsTA (p.Tyr21=) c.88_89delinsTA (p.Tyr30=) | |
11 | g.2527984del | CA10575750 | KCNQ1 | c.182del (p.Tyr61LeufsTer?) c.443del (p.Tyr148LeufsTer?) c.62del (p.Tyr21LeufsTer?) c.89del (p.Tyr30LeufsTer?) | ClinVar dbSNP |
11 | g.2527984A>C | CA379121927 | KCNQ1 | c.182A>C (p.Tyr61Ser) c.443A>C (p.Tyr148Ser) c.62A>C (p.Tyr21Ser) c.89A>C (p.Tyr30Ser) | |
11 | g.2527984A>G | CA379121930 | KCNQ1 | c.182A>G (p.Tyr61Cys) c.443A>G (p.Tyr148Cys) c.62A>G (p.Tyr21Cys) c.89A>G (p.Tyr30Cys) | |
11 | g.2527984A>T | CA379121925 | KCNQ1 | c.182A>T (p.Tyr61Phe) c.443A>T (p.Tyr148Phe) c.62A>T (p.Tyr21Phe) c.89A>T (p.Tyr30Phe) | |
11 | g.2527984dup | CA2574728111 | KCNQ1 | c.182dup (p.Tyr61Ter) c.443dup (p.Tyr148Ter) c.62dup (p.Tyr21Ter) c.89dup (p.Tyr30Ter) | |
11 | g.2527985T>A | CA379121934 | KCNQ1 | c.183T>A (p.Tyr61Ter) c.444T>A (p.Tyr148Ter) c.63T>A (p.Tyr21Ter) c.90T>A (p.Tyr30Ter) | |
11 | g.2527985T>C | CA472038256 | KCNQ1 | c.183T>C (p.Tyr61=) c.444T>C (p.Tyr148=) c.63T>C (p.Tyr21=) c.90T>C (p.Tyr30=) | gnomAD v4 |
11 | g.2527985T>G | CA379121933 | KCNQ1 | c.183T>G (p.Tyr61Ter) c.444T>G (p.Tyr148Ter) c.63T>G (p.Tyr21Ter) c.90T>G (p.Tyr30Ter) | |
11 | g.2527986G>A | CA379121937 | KCNQ1 | c.184G>A (p.Ala62Thr) c.445G>A (p.Ala149Thr) c.64G>A (p.Ala22Thr) c.91G>A (p.Ala31Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2527986G>C | CA379121936 | KCNQ1 | c.184G>C (p.Ala62Pro) c.445G>C (p.Ala149Pro) c.64G>C (p.Ala22Pro) c.91G>C (p.Ala31Pro) | |
11 | g.2527986G= | CA1948196768 | KCNQ1 | c.184G= (p.Ala62=) c.445G= (p.Ala149=) c.64G= (p.Ala22=) c.91G= (p.Ala31=) | |
11 | g.2527986G>T | CA379121939 | KCNQ1 | c.184G>T (p.Ala62Ser) c.445G>T (p.Ala149Ser) c.64G>T (p.Ala22Ser) c.91G>T (p.Ala31Ser) | |
11 | g.2527987C>A | CA379121941 | KCNQ1 | c.185C>A (p.Ala62Asp) c.446C>A (p.Ala149Asp) c.65C>A (p.Ala22Asp) c.92C>A (p.Ala31Asp) | |
11 | g.2527987C= | CA1948196769 | KCNQ1 | c.185C= (p.Ala62=) c.446C= (p.Ala149=) c.65C= (p.Ala22=) c.92C= (p.Ala31=) | |
11 | g.2527987C>G | CA379121959 | KCNQ1 | c.185C>G (p.Ala62Gly) c.446C>G (p.Ala149Gly) c.65C>G (p.Ala22Gly) c.92C>G (p.Ala31Gly) | |
11 | g.2527987C>T | CA216319515 | KCNQ1 | c.185C>T (p.Ala62Val) c.446C>T (p.Ala149Val) c.65C>T (p.Ala22Val) c.92C>T (p.Ala31Val) | dbSNP gnomAD v4 |
11 | g.2527988C>A | CA472038257 | KCNQ1 | c.186C>A (p.Ala62=) c.447C>A (p.Ala149=) c.66C>A (p.Ala22=) c.93C>A (p.Ala31=) | |
11 | g.2527988C= | CA1948196770 | KCNQ1 | c.186C= (p.Ala62=) c.447C= (p.Ala149=) c.66C= (p.Ala22=) c.93C= (p.Ala31=) | |
11 | g.2527988C>G | CA472038258 | KCNQ1 | c.186C>G (p.Ala62=) c.447C>G (p.Ala149=) c.66C>G (p.Ala22=) c.93C>G (p.Ala31=) | |
11 | g.2527988C>T | CA007107 | KCNQ1 | c.186C>T (p.Ala62=) c.447C>T (p.Ala149=) c.66C>T (p.Ala22=) c.93C>T (p.Ala31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2527989G>A | CA007116 | KCNQ1 | c.187G>A (p.Ala63Thr) c.448G>A (p.Ala150Thr) c.67G>A (p.Ala23Thr) c.94G>A (p.Ala32Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2527989G>C | CA379121962 | KCNQ1 | c.187G>C (p.Ala63Pro) c.448G>C (p.Ala150Pro) c.67G>C (p.Ala23Pro) c.94G>C (p.Ala32Pro) | |
11 | g.2527989G= | CA1948196771 | KCNQ1 | c.187G= (p.Ala63=) c.448G= (p.Ala150=) c.67G= (p.Ala23=) c.94G= (p.Ala32=) | |
11 | g.2527989G>T | CA379121964 | KCNQ1 | c.187G>T (p.Ala63Ser) c.448G>T (p.Ala150Ser) c.67G>T (p.Ala23Ser) c.94G>T (p.Ala32Ser) | gnomAD v4 |
11 | g.2527990C>A | CA379121967 | KCNQ1 | c.188C>A (p.Ala63Asp) c.449C>A (p.Ala150Asp) c.68C>A (p.Ala23Asp) c.95C>A (p.Ala32Asp) | |
11 | g.2527990C= | CA1948196772 | KCNQ1 | c.188C= (p.Ala63=) c.449C= (p.Ala150=) c.68C= (p.Ala23=) c.95C= (p.Ala32=) | |
11 | g.2527990C>G | CA007123 | KCNQ1 | c.188C>G (p.Ala63Gly) c.449C>G (p.Ala150Gly) c.68C>G (p.Ala23Gly) c.95C>G (p.Ala32Gly) | ClinVar dbSNP |
11 | g.2527990C>T | CA379121970 | KCNQ1 | c.188C>T (p.Ala63Val) c.449C>T (p.Ala150Val) c.68C>T (p.Ala23Val) c.95C>T (p.Ala32Val) | dbSNP gnomAD v4 |
11 | g.2527991C>A | CA472038259 | KCNQ1 | c.189C>A (p.Ala63=) c.450C>A (p.Ala150=) c.69C>A (p.Ala23=) c.96C>A (p.Ala32=) | gnomAD v4 |
11 | g.2527991C>G | CA472038260 | KCNQ1 | c.189C>G (p.Ala63=) c.450C>G (p.Ala150=) c.69C>G (p.Ala23=) c.96C>G (p.Ala32=) | |
11 | g.2527991C>T | CA472038261 | KCNQ1 | c.189C>T (p.Ala63=) c.450C>T (p.Ala150=) c.69C>T (p.Ala23=) c.96C>T (p.Ala32=) | |
11 | g.2527991_2527993delinsCCT | CA1948196773 | KCNQ1 | c.189_191delinsCCT (p.Ala63=) c.450_452delinsCCT (p.Ala150=) c.69_71delinsCCT (p.Ala23=) c.96_98delinsCCT (p.Ala32=) | |
11 | g.2527992C>A | CA379121973 | KCNQ1 | c.190C>A (p.Leu64Met) c.451C>A (p.Leu151Met) c.70C>A (p.Leu24Met) c.97C>A (p.Leu33Met) | |
11 | g.2527992C>G | CA379121976 | KCNQ1 | c.190C>G (p.Leu64Val) c.451C>G (p.Leu151Val) c.70C>G (p.Leu24Val) c.97C>G (p.Leu33Val) | |
11 | g.2527992C>T | CA472038262 | KCNQ1 | c.190C>T (p.Leu64=) c.451C>T (p.Leu151=) c.70C>T (p.Leu24=) c.97C>T (p.Leu33=) | |
11 | g.2527992_2527993del | CA007133 | KCNQ1 | c.190_191del (p.Leu64GlyfsTer?) c.451_452del (p.Leu151GlyfsTer?) c.70_71del (p.Leu24GlyfsTer?) c.97_98del (p.Leu33GlyfsTer?) | ClinVar dbSNP |
11 | g.2527993T>A | CA379121979 | KCNQ1 | c.191T>A (p.Leu64Gln) c.452T>A (p.Leu151Gln) c.71T>A (p.Leu24Gln) c.98T>A (p.Leu33Gln) | |
11 | g.2527993T>C | CA379121982 | KCNQ1 | c.191T>C (p.Leu64Pro) c.452T>C (p.Leu151Pro) c.71T>C (p.Leu24Pro) c.98T>C (p.Leu33Pro) | COSMIC |
11 | g.2527993T>G | CA379121986 | KCNQ1 | c.191T>G (p.Leu64Arg) c.452T>G (p.Leu151Arg) c.71T>G (p.Leu24Arg) c.98T>G (p.Leu33Arg) | |
11 | g.2527994G>A | CA472038263 | KCNQ1 | c.192G>A (p.Leu64=) c.453G>A (p.Leu151=) c.72G>A (p.Leu24=) c.99G>A (p.Leu33=) | |
11 | g.2527994G>C | CA472038264 | KCNQ1 | c.192G>C (p.Leu64=) c.453G>C (p.Leu151=) c.72G>C (p.Leu24=) c.99G>C (p.Leu33=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2527994G= | CA1948196774 | KCNQ1 | c.192G= (p.Leu64=) c.453G= (p.Leu151=) c.72G= (p.Leu24=) c.99G= (p.Leu33=) | |
11 | g.2527994G>T | CA472038265 | KCNQ1 | c.192G>T (p.Leu64=) c.453G>T (p.Leu151=) c.72G>T (p.Leu24=) c.99G>T (p.Leu33=) | |
11 | g.2527995G>A | CA379122001 | KCNQ1 | c.193G>A (p.Ala65Thr) c.454G>A (p.Ala152Thr) c.73G>A (p.Ala25Thr) c.100G>A (p.Ala34Thr) | |
11 | g.2527995G>C | CA379121999 | KCNQ1 | c.193G>C (p.Ala65Pro) c.454G>C (p.Ala152Pro) c.73G>C (p.Ala25Pro) c.100G>C (p.Ala34Pro) | |
11 | g.2527995G>T | CA379121989 | KCNQ1 | c.193G>T (p.Ala65Ser) c.454G>T (p.Ala152Ser) c.73G>T (p.Ala25Ser) c.100G>T (p.Ala34Ser) | |
11 | g.2527996C>A | CA379122005 | KCNQ1 | c.194C>A (p.Ala65Asp) c.455C>A (p.Ala152Asp) c.74C>A (p.Ala25Asp) c.101C>A (p.Ala34Asp) | |
11 | g.2527996C>G | CA379122013 | KCNQ1 | c.194C>G (p.Ala65Gly) c.455C>G (p.Ala152Gly) c.74C>G (p.Ala25Gly) c.101C>G (p.Ala34Gly) | |
11 | g.2527996C>T | CA379122018 | KCNQ1 | c.194C>T (p.Ala65Val) c.455C>T (p.Ala152Val) c.74C>T (p.Ala25Val) c.101C>T (p.Ala34Val) | |
11 | g.2527997C>A | CA472038266 | KCNQ1 | c.195C>A (p.Ala65=) c.456C>A (p.Ala152=) c.75C>A (p.Ala25=) c.102C>A (p.Ala34=) | |
11 | g.2527997C>G | CA472038268 | KCNQ1 | c.195C>G (p.Ala65=) c.456C>G (p.Ala152=) c.75C>G (p.Ala25=) c.102C>G (p.Ala34=) | |
11 | g.2527997C>T | CA472038267 | KCNQ1 | c.195C>T (p.Ala65=) c.456C>T (p.Ala152=) c.75C>T (p.Ala25=) c.102C>T (p.Ala34=) | |
11 | g.2527998A>C | CA379122019 | KCNQ1 | c.196A>C (p.Thr66Pro) c.457A>C (p.Thr153Pro) c.76A>C (p.Thr26Pro) c.103A>C (p.Thr35Pro) | |
11 | g.2527998A>G | CA379122020 | KCNQ1 | c.196A>G (p.Thr66Ala) c.457A>G (p.Thr153Ala) c.76A>G (p.Thr26Ala) c.103A>G (p.Thr35Ala) | |
11 | g.2527998A>T | CA379122021 | KCNQ1 | c.196A>T (p.Thr66Ser) c.457A>T (p.Thr153Ser) c.76A>T (p.Thr26Ser) c.103A>T (p.Thr35Ser) | |
11 | g.2527999C>A | CA379122024 | KCNQ1 | c.197C>A (p.Thr66Lys) c.458C>A (p.Thr153Lys) c.77C>A (p.Thr26Lys) c.104C>A (p.Thr35Lys) | gnomAD v4 |
11 | g.2527999C= | CA1948196775 | KCNQ1 | c.197C= (p.Thr66=) c.458C= (p.Thr153=) c.77C= (p.Thr26=) c.104C= (p.Thr35=) | |
11 | g.2527999C>G | CA379122028 | KCNQ1 | c.197C>G (p.Thr66Arg) c.458C>G (p.Thr153Arg) c.77C>G (p.Thr26Arg) c.104C>G (p.Thr35Arg) | |
11 | g.2527999C>T | CA007144 | KCNQ1 | c.197C>T (p.Thr66Met) c.458C>T (p.Thr153Met) c.77C>T (p.Thr26Met) c.104C>T (p.Thr35Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528000G>A | CA007153 | KCNQ1 | c.198G>A (p.Thr66=) c.459G>A (p.Thr153=) c.78G>A (p.Thr26=) c.105G>A (p.Thr35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528000G>C | CA472038269 | KCNQ1 | c.198G>C (p.Thr66=) c.459G>C (p.Thr153=) c.78G>C (p.Thr26=) c.105G>C (p.Thr35=) | |
11 | g.2528000G= | CA1948196776 | KCNQ1 | c.198G= (p.Thr66=) c.459G= (p.Thr153=) c.78G= (p.Thr26=) c.105G= (p.Thr35=) | |
11 | g.2528000G>T | CA472038270 | KCNQ1 | c.198G>T (p.Thr66=) c.459G>T (p.Thr153=) c.78G>T (p.Thr26=) c.105G>T (p.Thr35=) | |
11 | g.2528001G>A | CA379122036 | KCNQ1 | c.199G>A (p.Gly67Arg) c.460G>A (p.Gly154Arg) c.79G>A (p.Gly27Arg) c.106G>A (p.Gly36Arg) | COSMIC |
11 | g.2528001G>C | CA379122037 | KCNQ1 | c.199G>C (p.Gly67Arg) c.460G>C (p.Gly154Arg) c.79G>C (p.Gly27Arg) c.106G>C (p.Gly36Arg) | gnomAD v4 |
11 | g.2528001G>T | CA379122039 | KCNQ1 | c.199G>T (p.Gly67Trp) c.460G>T (p.Gly154Trp) c.79G>T (p.Gly27Trp) c.106G>T (p.Gly36Trp) | |
11 | g.2528002G>A | CA216319548 | KCNQ1 | c.200G>A (p.Gly67Glu) c.461G>A (p.Gly154Glu) c.80G>A (p.Gly27Glu) c.107G>A (p.Gly36Glu) | dbSNP |
11 | g.2528002G>C | CA379122053 | KCNQ1 | c.200G>C (p.Gly67Ala) c.461G>C (p.Gly154Ala) c.80G>C (p.Gly27Ala) c.107G>C (p.Gly36Ala) | |
11 | g.2528002G= | CA1948196777 | KCNQ1 | c.200G= (p.Gly67=) c.461G= (p.Gly154=) c.80G= (p.Gly27=) c.107G= (p.Gly36=) | |
11 | g.2528002G>T | CA379122043 | KCNQ1 | c.200G>T (p.Gly67Val) c.461G>T (p.Gly154Val) c.80G>T (p.Gly27Val) c.107G>T (p.Gly36Val) | gnomAD v4 |
11 | g.2528003G>A | CA037309 | KCNQ1 | c.201G>A (p.Gly67=) c.462G>A (p.Gly154=) c.81G>A (p.Gly27=) c.108G>A (p.Gly36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2528003G>C | CA472038271 | KCNQ1 | c.201G>C (p.Gly67=) c.462G>C (p.Gly154=) c.81G>C (p.Gly27=) c.108G>C (p.Gly36=) | |
11 | g.2528003G= | CA1948196778 | KCNQ1 | c.201G= (p.Gly67=) c.462G= (p.Gly154=) c.81G= (p.Gly27=) c.108G= (p.Gly36=) | |
11 | g.2528003G>T | CA472038272 | KCNQ1 | c.201G>T (p.Gly67=) c.462G>T (p.Gly154=) c.81G>T (p.Gly27=) c.108G>T (p.Gly36=) | gnomAD v4 |
11 | g.2528004A= | CA1948196780 | KCNQ1 | c.202A= (p.Thr68=) c.463A= (p.Thr155=) c.82A= (p.Thr28=) c.109A= (p.Thr37=) | |
11 | g.2528004A>C | CA379122063 | KCNQ1 | c.202A>C (p.Thr68Pro) c.463A>C (p.Thr155Pro) c.82A>C (p.Thr28Pro) c.109A>C (p.Thr37Pro) | |
11 | g.2528004A>G | CA379122065 | KCNQ1 | c.202A>G (p.Thr68Ala) c.463A>G (p.Thr155Ala) c.82A>G (p.Thr28Ala) c.109A>G (p.Thr37Ala) | dbSNP |
11 | g.2528004A>T | CA379122067 | KCNQ1 | c.202A>T (p.Thr68Ser) c.463A>T (p.Thr155Ser) c.82A>T (p.Thr28Ser) c.109A>T (p.Thr37Ser) | |
11 | g.2528004_2528006delinsACT | CA1948196779 | KCNQ1 | c.202_204delinsACT (p.Thr68=) c.463_465delinsACT (p.Thr155=) c.82_84delinsACT (p.Thr28=) c.109_111delinsACT (p.Thr37=) | |
11 | g.2528005C>A | CA379122070 | KCNQ1 | c.203C>A (p.Thr68Asn) c.464C>A (p.Thr155Asn) c.83C>A (p.Thr28Asn) c.110C>A (p.Thr37Asn) | |
11 | g.2528005C= | CA1948196781 | KCNQ1 | c.203C= (p.Thr68=) c.464C= (p.Thr155=) c.83C= (p.Thr28=) c.110C= (p.Thr37=) | |
11 | g.2528005C>G | CA379122074 | KCNQ1 | c.203C>G (p.Thr68Ser) c.464C>G (p.Thr155Ser) c.83C>G (p.Thr28Ser) c.110C>G (p.Thr37Ser) | |
11 | g.2528005C>T | CA379122076 | KCNQ1 | c.203C>T (p.Thr68Ile) c.464C>T (p.Thr155Ile) c.83C>T (p.Thr28Ile) c.110C>T (p.Thr37Ile) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2528009_2528010del | CA16619307 | KCNQ1 | c.207_208del (p.Phe70LeufsTer?) c.468_469del (p.Phe157LeufsTer?) c.87_88del (p.Phe30LeufsTer?) c.114_115del (p.Phe39LeufsTer?) | ClinVar dbSNP |
11 | g.2528006T>A | CA472038273 | KCNQ1 | c.204T>A (p.Thr68=) c.465T>A (p.Thr155=) c.84T>A (p.Thr28=) c.111T>A (p.Thr37=) | ClinVar dbSNP gnomAD v4 |
11 | g.2528006T>C | CA216319589 | KCNQ1 | c.204T>C (p.Thr68=) c.465T>C (p.Thr155=) c.84T>C (p.Thr28=) c.111T>C (p.Thr37=) | dbSNP |
11 | g.2528006T>G | CA037341 | KCNQ1 | c.204T>G (p.Thr68=) c.465T>G (p.Thr155=) c.84T>G (p.Thr28=) c.111T>G (p.Thr37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528006T= | CA1948196782 | KCNQ1 | c.204T= (p.Thr68=) c.465T= (p.Thr155=) c.84T= (p.Thr28=) c.111T= (p.Thr37=) | |
11 | g.2528007C>A | CA379122080 | KCNQ1 | c.205C>A (p.Leu69Ile) c.466C>A (p.Leu156Ile) c.85C>A (p.Leu29Ile) c.112C>A (p.Leu38Ile) | |
11 | g.2528007C>G | CA379122081 | KCNQ1 | c.205C>G (p.Leu69Val) c.466C>G (p.Leu156Val) c.85C>G (p.Leu29Val) c.112C>G (p.Leu38Val) | COSMIC COSMIC |
11 | g.2528007C>T | CA379122082 | KCNQ1 | c.205C>T (p.Leu69Phe) c.466C>T (p.Leu156Phe) c.85C>T (p.Leu29Phe) c.112C>T (p.Leu38Phe) | COSMIC COSMIC |
11 | g.2528008T>A | CA379122092 | KCNQ1 | c.206T>A (p.Leu69His) c.467T>A (p.Leu156His) c.86T>A (p.Leu29His) c.113T>A (p.Leu38His) | |
11 | g.2528008T>C | CA379122086 | KCNQ1 | c.206T>C (p.Leu69Pro) c.467T>C (p.Leu156Pro) c.86T>C (p.Leu29Pro) c.113T>C (p.Leu38Pro) | ClinVar dbSNP |
11 | g.2528008T>G | CA379122083 | KCNQ1 | c.206T>G (p.Leu69Arg) c.467T>G (p.Leu156Arg) c.86T>G (p.Leu29Arg) c.113T>G (p.Leu38Arg) | ClinVar |
11 | g.2528008T= | CA1948196783 | KCNQ1 | c.206T= (p.Leu69=) c.467T= (p.Leu156=) c.86T= (p.Leu29=) c.113T= (p.Leu38=) | |
11 | g.2528009C>A | CA472038274 | KCNQ1 | c.207C>A (p.Leu69=) c.468C>A (p.Leu156=) c.87C>A (p.Leu29=) c.114C>A (p.Leu38=) | |
11 | g.2528009C= | CA1948196784 | KCNQ1 | c.207C= (p.Leu69=) c.468C= (p.Leu156=) c.87C= (p.Leu29=) c.114C= (p.Leu38=) | |
11 | g.2528009C>G | CA037366 | KCNQ1 | c.207C>G (p.Leu69=) c.468C>G (p.Leu156=) c.87C>G (p.Leu29=) c.114C>G (p.Leu38=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2528009C>T | CA472038275 | KCNQ1 | c.207C>T (p.Leu69=) c.468C>T (p.Leu156=) c.87C>T (p.Leu29=) c.114C>T (p.Leu38=) | ClinVar dbSNP gnomAD v4 |
11 | g.2528010T>A | CA379122100 | KCNQ1 | c.208T>A (p.Phe70Ile) c.469T>A (p.Phe157Ile) c.88T>A (p.Phe30Ile) c.115T>A (p.Phe39Ile) | |
11 | g.2528010T>C | CA379122103 | KCNQ1 | c.208T>C (p.Phe70Leu) c.469T>C (p.Phe157Leu) c.88T>C (p.Phe30Leu) c.115T>C (p.Phe39Leu) | ClinVar |
11 | g.2528010T>G | CA379122108 | KCNQ1 | c.208T>G (p.Phe70Val) c.469T>G (p.Phe157Val) c.88T>G (p.Phe30Val) c.115T>G (p.Phe39Val) | |
11 | g.2528011T>A | CA379122113 | KCNQ1 | c.209T>A (p.Phe70Tyr) c.470T>A (p.Phe157Tyr) c.89T>A (p.Phe30Tyr) c.116T>A (p.Phe39Tyr) | |
11 | g.2528011T>C | CA379122119 | KCNQ1 | c.209T>C (p.Phe70Ser) c.470T>C (p.Phe157Ser) c.89T>C (p.Phe30Ser) c.116T>C (p.Phe39Ser) | |
11 | g.2528011T>G | CA007159 | KCNQ1 | c.209T>G (p.Phe70Cys) c.470T>G (p.Phe157Cys) c.89T>G (p.Phe30Cys) c.116T>G (p.Phe39Cys) | ClinVar dbSNP |
11 | g.2528011T= | CA1948196785 | KCNQ1 | c.209T= (p.Phe70=) c.470T= (p.Phe157=) c.89T= (p.Phe30=) c.116T= (p.Phe39=) | |
11 | g.2528012C>A | CA379122133 | KCNQ1 | c.210C>A (p.Phe70Leu) c.471C>A (p.Phe157Leu) c.90C>A (p.Phe30Leu) c.117C>A (p.Phe39Leu) | |
11 | g.2528012C>G | CA379122160 | KCNQ1 | c.210C>G (p.Phe70Leu) c.471C>G (p.Phe157Leu) c.90C>G (p.Phe30Leu) c.117C>G (p.Phe39Leu) | |
11 | g.2528012C>T | CA472038276 | KCNQ1 | c.210C>T (p.Phe70=) c.471C>T (p.Phe157=) c.90C>T (p.Phe30=) c.117C>T (p.Phe39=) | COSMIC COSMIC |
11 | g.2528013T>A | CA379122164 | KCNQ1 | c.211T>A (p.Trp71Arg) c.472T>A (p.Trp158Arg) c.91T>A (p.Trp31Arg) c.118T>A (p.Trp40Arg) | |
11 | g.2528013T>C | CA379122166 | KCNQ1 | c.211T>C (p.Trp71Arg) c.472T>C (p.Trp158Arg) c.91T>C (p.Trp31Arg) c.118T>C (p.Trp40Arg) | gnomAD v4 |
11 | g.2528013T>G | CA379122172 | KCNQ1 | c.211T>G (p.Trp71Gly) c.472T>G (p.Trp158Gly) c.91T>G (p.Trp31Gly) c.118T>G (p.Trp40Gly) | gnomAD v4 |
11 | g.2528013T= | CA1948196786 | KCNQ1 | c.211T= (p.Trp71=) c.472T= (p.Trp158=) c.91T= (p.Trp31=) c.118T= (p.Trp40=) | |
11 | g.2528014G>A | CA379122209 | KCNQ1 | c.212G>A (p.Trp71Ter) c.473G>A (p.Trp158Ter) c.92G>A (p.Trp31Ter) c.119G>A (p.Trp40Ter) | |
11 | g.2528014G>C | CA379122183 | KCNQ1 | c.212G>C (p.Trp71Ser) c.473G>C (p.Trp158Ser) c.92G>C (p.Trp31Ser) c.119G>C (p.Trp40Ser) | |
11 | g.2528014G>T | CA379122175 | KCNQ1 | c.212G>T (p.Trp71Leu) c.473G>T (p.Trp158Leu) c.92G>T (p.Trp31Leu) c.119G>T (p.Trp40Leu) | |
11 | g.2528015dup | CA216319629 | KCNQ1 | c.213dup (p.Met72AspfsTer?) c.474dup (p.Met159AspfsTer?) c.93dup (p.Met32AspfsTer?) c.120dup (p.Met41AspfsTer?) | dbSNP |
11 | g.2528015G>A | CA379122222 | KCNQ1 | c.213G>A (p.Trp71Ter) c.474G>A (p.Trp158Ter) c.93G>A (p.Trp31Ter) c.120G>A (p.Trp40Ter) | |
11 | g.2528015G>C | CA379122213 | KCNQ1 | c.213G>C (p.Trp71Cys) c.474G>C (p.Trp158Cys) c.93G>C (p.Trp31Cys) c.120G>C (p.Trp40Cys) | ClinVar gnomAD v4 |
11 | g.2528015G>T | CA379122220 | KCNQ1 | c.213G>T (p.Trp71Cys) c.474G>T (p.Trp158Cys) c.93G>T (p.Trp31Cys) c.120G>T (p.Trp40Cys) | |
11 | g.2528016A= | CA1948196787 | KCNQ1 | c.214A= (p.Met72=) c.475A= (p.Met159=) c.94A= (p.Met32=) c.121A= (p.Met41=) | |
11 | g.2528016A>C | CA379122230 | KCNQ1 | c.214A>C (p.Met72Leu) c.475A>C (p.Met159Leu) c.94A>C (p.Met32Leu) c.121A>C (p.Met41Leu) | |
11 | g.2528016A>G | CA379122237 | KCNQ1 | c.214A>G (p.Met72Val) c.475A>G (p.Met159Val) c.94A>G (p.Met32Val) c.121A>G (p.Met41Val) | |
11 | g.2528016A>T | CA379122240 | KCNQ1 | c.214A>T (p.Met72Leu) c.475A>T (p.Met159Leu) c.94A>T (p.Met32Leu) c.121A>T (p.Met41Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2528017T>A | CA379122243 | KCNQ1 | c.215T>A (p.Met72Lys) c.476T>A (p.Met159Lys) c.95T>A (p.Met32Lys) c.122T>A (p.Met41Lys) | |
11 | g.2528017T>C | CA379122242 | KCNQ1 | c.215T>C (p.Met72Thr) c.476T>C (p.Met159Thr) c.95T>C (p.Met32Thr) c.122T>C (p.Met41Thr) | |
11 | g.2528017T>G | CA379122241 | KCNQ1 | c.215T>G (p.Met72Arg) c.476T>G (p.Met159Arg) c.95T>G (p.Met32Arg) c.122T>G (p.Met41Arg) | |
11 | g.2528018G>A | CA379122244 | KCNQ1 | c.216G>A (p.Met72Ile) c.477G>A (p.Met159Ile) c.96G>A (p.Met32Ile) c.123G>A (p.Met41Ile) | |
11 | g.2528018G>C | CA379122245 | KCNQ1 | c.216G>C (p.Met72Ile) c.477G>C (p.Met159Ile) c.96G>C (p.Met32Ile) c.123G>C (p.Met41Ile) | |
11 | g.2528018G>T | CA379122246 | KCNQ1 | c.216G>T (p.Met72Ile) c.477G>T (p.Met159Ile) c.96G>T (p.Met32Ile) c.123G>T (p.Met41Ile) | |
11 | g.2528019G>A | CA007168 | KCNQ1 | c.216+1G>A (n.216+1G>A) c.477+1G>A (n.477+1G>A) c.96+1G>A (n.96+1G>A) c.123+1G>A (n.123+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528019G>C | CA379122251 | KCNQ1 | c.216+1G>C (n.216+1G>C) c.477+1G>C (n.477+1G>C) c.96+1G>C (n.96+1G>C) c.123+1G>C (n.123+1G>C) | ClinVar |
11 | g.2528019G= | CA1948196792 | KCNQ1 | c.216+1G= (n.216+1G=) c.477+1G= (n.477+1G=) c.96+1G= (n.96+1G=) c.123+1G= (n.123+1G=) | |
11 | g.2528019G>T | CA379122254 | KCNQ1 | c.216+1G>T (n.216+1G>T) c.477+1G>T (n.477+1G>T) c.96+1G>T (n.96+1G>T) c.123+1G>T (n.123+1G>T) | |
11 | g.2528020T>A | CA379122265 | KCNQ1 | c.216+2T>A (n.216+2T>A) c.477+2T>A (n.477+2T>A) c.96+2T>A (n.96+2T>A) c.123+2T>A (n.123+2T>A) | |
11 | g.2528020T>C | CA379122271 | KCNQ1 | c.216+2T>C (n.216+2T>C) c.477+2T>C (n.477+2T>C) c.96+2T>C (n.96+2T>C) c.123+2T>C (n.123+2T>C) | ClinVar dbSNP COSMIC COSMIC |
11 | g.2528020T>G | CA379122270 | KCNQ1 | c.216+2T>G (n.216+2T>G) c.477+2T>G (n.477+2T>G) c.96+2T>G (n.96+2T>G) c.123+2T>G (n.123+2T>G) | |
11 | g.2528022C>A | CA674959832 | KCNQ1 | c.216+4C>A (n.216+4C>A) c.477+4C>A (n.477+4C>A) c.96+4C>A (n.96+4C>A) c.123+4C>A (n.123+4C>A) | dbSNP |
11 | g.2528022C= | CA1948196797 | KCNQ1 | c.216+4C= (n.216+4C=) c.477+4C= (n.477+4C=) c.96+4C= (n.96+4C=) c.123+4C= (n.123+4C=) | |
11 | g.2528022C>G | CA2499220863 | KCNQ1 | c.216+4C>G (n.216+4C>G) c.477+4C>G (n.477+4C>G) c.96+4C>G (n.96+4C>G) c.123+4C>G (n.123+4C>G) | ClinVar dbSNP |
11 | g.2528022C>T | CA037510 | KCNQ1 | c.216+4C>T (n.216+4C>T) c.477+4C>T (n.477+4C>T) c.96+4C>T (n.96+4C>T) c.123+4C>T (n.123+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528023G>A | CA007174 | KCNQ1 | c.216+5G>A (n.216+5G>A) c.477+5G>A (n.477+5G>A) c.96+5G>A (n.96+5G>A) c.123+5G>A (n.123+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528023G>C | CA007183 | KCNQ1 | c.216+5G>C (n.216+5G>C) c.477+5G>C (n.477+5G>C) c.96+5G>C (n.96+5G>C) c.123+5G>C (n.123+5G>C) | ClinVar dbSNP |
11 | g.2528023G= | CA1948196801 | KCNQ1 | c.216+5G= (n.216+5G=) c.477+5G= (n.477+5G=) c.96+5G= (n.96+5G=) c.123+5G= (n.123+5G=) | |
11 | g.2528024T>A | CA2612002800 | KCNQ1 | c.216+6T>A (n.216+6T>A) c.477+6T>A (n.477+6T>A) c.96+6T>A (n.96+6T>A) c.123+6T>A (n.123+6T>A) | gnomAD v4 |
11 | g.2528027C>A | CA913188341 | KCNQ1 | c.216+9C>A (n.216+9C>A) c.477+9C>A (n.477+9C>A) c.96+9C>A (n.96+9C>A) c.123+9C>A (n.123+9C>A) | gnomAD v4 |
11 | g.2528027C= | CA1948196817 | KCNQ1 | c.216+9C= (n.216+9C=) c.477+9C= (n.477+9C=) c.96+9C= (n.96+9C=) c.123+9C= (n.123+9C=) | |
11 | g.2528027C>G | CA913188340 | KCNQ1 | c.216+9C>G (n.216+9C>G) c.477+9C>G (n.477+9C>G) c.96+9C>G (n.96+9C>G) c.123+9C>G (n.123+9C>G) | |
11 | g.2528027C>T | CA007191 | KCNQ1 | c.216+9C>T (n.216+9C>T) c.477+9C>T (n.477+9C>T) c.96+9C>T (n.96+9C>T) c.123+9C>T (n.123+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528028A>G | CA2612002822 | KCNQ1 | c.216+10A>G (n.216+10A>G) c.477+10A>G (n.477+10A>G) c.96+10A>G (n.96+10A>G) c.123+10A>G (n.123+10A>G) | gnomAD v4 |
11 | g.2528029T>C | CA2612002827 | KCNQ1 | c.216+11T>C (n.216+11T>C) c.477+11T>C (n.477+11T>C) c.96+11T>C (n.96+11T>C) c.123+11T>C (n.123+11T>C) | gnomAD v4 |
11 | g.2528030_2528031del | CA2612002825 | KCNQ1 | c.216+12_216+13del (n.216+12_216+13del) c.477+12_477+13del (n.477+12_477+13del) c.96+12_96+13del (n.96+12_96+13del) c.123+12_123+13del (n.123+12_123+13del) | gnomAD v4 |
11 | g.2528030C>T | CA2612002829 | KCNQ1 | c.216+12C>T (n.216+12C>T) c.477+12C>T (n.477+12C>T) c.96+12C>T (n.96+12C>T) c.123+12C>T (n.123+12C>T) | gnomAD v4 |
11 | g.2528034G>A | CA2612002836 | KCNQ1 | c.216+16G>A (n.216+16G>A) c.477+16G>A (n.477+16G>A) c.96+16G>A (n.96+16G>A) c.123+16G>A (n.123+16G>A) | gnomAD v4 |
11 | g.2528034G>C | CA2580082715 | KCNQ1 | c.216+16G>C (n.216+16G>C) c.477+16G>C (n.477+16G>C) c.96+16G>C (n.96+16G>C) c.123+16G>C (n.123+16G>C) | ClinVar |
11 | g.2528034G>T | CA2612002837 | KCNQ1 | c.216+16G>T (n.216+16G>T) c.477+16G>T (n.477+16G>T) c.96+16G>T (n.96+16G>T) c.123+16G>T (n.123+16G>T) | gnomAD v4 |
11 | g.2528036dup | CA2612002835 | KCNQ1 | c.216+18dup (n.216+18dup) c.477+18dup (n.477+18dup) c.96+18dup (n.96+18dup) c.123+18dup (n.123+18dup) | gnomAD v4 |
11 | g.2528036del | CA2574728112 | KCNQ1 | c.216+18del (n.216+18del) c.477+18del (n.477+18del) c.96+18del (n.96+18del) c.123+18del (n.123+18del) | gnomAD v4 |
11 | g.2528035G>C | CA2612002839 | KCNQ1 | c.216+17G>C (n.216+17G>C) c.477+17G>C (n.477+17G>C) c.96+17G>C (n.96+17G>C) c.123+17G>C (n.123+17G>C) | gnomAD v4 |
11 | g.2528035G>T | CA2612002842 | KCNQ1 | c.216+17G>T (n.216+17G>T) c.477+17G>T (n.477+17G>T) c.96+17G>T (n.96+17G>T) c.123+17G>T (n.123+17G>T) | gnomAD v4 |
11 | g.2528036G>A | CA2574728113 | KCNQ1 | c.216+18G>A (n.216+18G>A) c.477+18G>A (n.477+18G>A) c.96+18G>A (n.96+18G>A) c.123+18G>A (n.123+18G>A) | gnomAD v4 |
11 | g.2528036G>T | CA2612002850 | KCNQ1 | c.216+18G>T (n.216+18G>T) c.477+18G>T (n.477+18G>T) c.96+18G>T (n.96+18G>T) c.123+18G>T (n.123+18G>T) | gnomAD v4 |
11 | g.2528037C>A | CA2612002853 | KCNQ1 | c.216+19C>A (n.216+19C>A) c.477+19C>A (n.477+19C>A) c.96+19C>A (n.96+19C>A) c.123+19C>A (n.123+19C>A) | gnomAD v4 |
11 | g.2528037C>T | CA2612002855 | KCNQ1 | c.216+19C>T (n.216+19C>T) c.477+19C>T (n.477+19C>T) c.96+19C>T (n.96+19C>T) c.123+19C>T (n.123+19C>T) | dbSNP gnomAD v4 |
11 | g.2528038A= | CA1948196819 | KCNQ1 | c.216+20A= (n.216+20A=) c.477+20A= (n.477+20A=) c.96+20A= (n.96+20A=) c.123+20A= (n.123+20A=) | |
11 | g.2528038A>G | CA674959846 | KCNQ1 | c.216+20A>G (n.216+20A>G) c.477+20A>G (n.477+20A>G) c.96+20A>G (n.96+20A>G) c.123+20A>G (n.123+20A>G) | dbSNP gnomAD v4 |
11 | g.2528039T>C | CA597101302 | KCNQ1 | c.216+21T>C (n.216+21T>C) c.477+21T>C (n.477+21T>C) c.96+21T>C (n.96+21T>C) c.123+21T>C (n.123+21T>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2528039T>G | CA1948196820 | KCNQ1 | c.216+21T>G (n.216+21T>G) c.477+21T>G (n.477+21T>G) c.96+21T>G (n.96+21T>G) c.123+21T>G (n.123+21T>G) | dbSNP |
11 | g.2528039T= | CA1948196822 | KCNQ1 | c.216+21T= (n.216+21T=) c.477+21T= (n.477+21T=) c.96+21T= (n.96+21T=) c.123+21T= (n.123+21T=) | |
11 | g.2528040G>A | CA2612002861 | KCNQ1 | c.216+22G>A (n.216+22G>A) c.477+22G>A (n.477+22G>A) c.96+22G>A (n.96+22G>A) c.123+22G>A (n.123+22G>A) | gnomAD v4 |
11 | g.2528040G>C | CA037399 | KCNQ1 | c.216+22G>C (n.216+22G>C) c.477+22G>C (n.477+22G>C) c.96+22G>C (n.96+22G>C) c.123+22G>C (n.123+22G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528040G= | CA1948196826 | KCNQ1 | c.216+22G= (n.216+22G=) c.477+22G= (n.477+22G=) c.96+22G= (n.96+22G=) c.123+22G= (n.123+22G=) | |
11 | g.2528040G>T | CA2612002865 | KCNQ1 | c.216+22G>T (n.216+22G>T) c.477+22G>T (n.477+22G>T) c.96+22G>T (n.96+22G>T) c.123+22G>T (n.123+22G>T) | gnomAD v4 |
11 | g.2528041G>A | CA037408 | KCNQ1 | c.216+23G>A (n.216+23G>A) c.477+23G>A (n.477+23G>A) c.96+23G>A (n.96+23G>A) c.123+23G>A (n.123+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2528041G= | CA1948196828 | KCNQ1 | c.216+23G= (n.216+23G=) c.477+23G= (n.477+23G=) c.96+23G= (n.96+23G=) c.123+23G= (n.123+23G=) | |
11 | g.2528042C>A | CA2612002870 | KCNQ1 | c.216+24C>A (n.216+24C>A) c.477+24C>A (n.477+24C>A) c.96+24C>A (n.96+24C>A) c.123+24C>A (n.123+24C>A) | gnomAD v4 |
11 | g.2528042C= | CA1948196830 | KCNQ1 | c.216+24C= (n.216+24C=) c.477+24C= (n.477+24C=) c.96+24C= (n.96+24C=) c.123+24C= (n.123+24C=) | |
11 | g.2528042C>T | CA037418 | KCNQ1 | c.216+24C>T (n.216+24C>T) c.477+24C>T (n.477+24C>T) c.96+24C>T (n.96+24C>T) c.123+24C>T (n.123+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2528044G>A | CA597101307 | KCNQ1 | c.216+26G>A (n.216+26G>A) c.477+26G>A (n.477+26G>A) c.96+26G>A (n.96+26G>A) c.123+26G>A (n.123+26G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528044G>C | CA2612002874 | KCNQ1 | c.216+26G>C (n.216+26G>C) c.477+26G>C (n.477+26G>C) c.96+26G>C (n.96+26G>C) c.123+26G>C (n.123+26G>C) | gnomAD v4 |
11 | g.2528044G= | CA1948196831 | KCNQ1 | c.216+26G= (n.216+26G=) c.477+26G= (n.477+26G=) c.96+26G= (n.96+26G=) c.123+26G= (n.123+26G=) | |
11 | g.2528044G>T | CA2612002876 | KCNQ1 | c.216+26G>T (n.216+26G>T) c.477+26G>T (n.477+26G>T) c.96+26G>T (n.96+26G>T) c.123+26G>T (n.123+26G>T) | gnomAD v4 |
11 | g.2528045G>T | CA2612002879 | KCNQ1 | c.216+27G>T (n.216+27G>T) c.477+27G>T (n.477+27G>T) c.96+27G>T (n.96+27G>T) c.123+27G>T (n.123+27G>T) | gnomAD v4 |
11 | g.2528046A= | CA1948196833 | KCNQ1 | c.216+28A= (n.216+28A=) c.477+28A= (n.477+28A=) c.96+28A= (n.96+28A=) c.123+28A= (n.123+28A=) | |
11 | g.2528047T>C | CA2723229526 | KCNQ1 | c.216+29T>C (n.216+29T>C) c.477+29T>C (n.477+29T>C) c.96+29T>C (n.96+29T>C) c.123+29T>C (n.123+29T>C) | dbSNP |
11 | g.2528047dup | CA1948196834 | KCNQ1 | c.216+29dup (n.216+29dup) c.477+29dup (n.477+29dup) c.96+29dup (n.96+29dup) c.123+29dup (n.123+29dup) | dbSNP |
11 | g.2528048G>A | CA2574728114 | KCNQ1 | c.216+30G>A (n.216+30G>A) c.477+30G>A (n.477+30G>A) c.96+30G>A (n.96+30G>A) c.123+30G>A (n.123+30G>A) | gnomAD v4 |
11 | g.2528048G>T | CA2574728115 | KCNQ1 | c.216+30G>T (n.216+30G>T) c.477+30G>T (n.477+30G>T) c.96+30G>T (n.96+30G>T) c.123+30G>T (n.123+30G>T) | gnomAD v4 |
11 | g.2528049T>C | CA2574728116 | KCNQ1 | c.216+31T>C (n.216+31T>C) c.477+31T>C (n.477+31T>C) c.96+31T>C (n.96+31T>C) c.123+31T>C (n.123+31T>C) | |
11 | g.2528050C>A | CA037440 | KCNQ1 | c.216+32C>A (n.216+32C>A) c.477+32C>A (n.477+32C>A) c.96+32C>A (n.96+32C>A) c.123+32C>A (n.123+32C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528050C= | CA1948196835 | KCNQ1 | c.216+32C= (n.216+32C=) c.477+32C= (n.477+32C=) c.96+32C= (n.96+32C=) c.123+32C= (n.123+32C=) | |
11 | g.2528050C>G | CA2574728117 | KCNQ1 | c.216+32C>G (n.216+32C>G) c.477+32C>G (n.477+32C>G) c.96+32C>G (n.96+32C>G) c.123+32C>G (n.123+32C>G) | |
11 | g.2528050C>T | CA2612002883 | KCNQ1 | c.216+32C>T (n.216+32C>T) c.477+32C>T (n.477+32C>T) c.96+32C>T (n.96+32C>T) c.123+32C>T (n.123+32C>T) | gnomAD v4 |
11 | g.2528052T>A | CA2612002884 | KCNQ1 | c.216+34T>A (n.216+34T>A) c.477+34T>A (n.477+34T>A) c.96+34T>A (n.96+34T>A) c.123+34T>A (n.123+34T>A) | gnomAD v4 |
11 | g.2528052T>C | CA037455 | KCNQ1 | c.216+34T>C (n.216+34T>C) c.477+34T>C (n.477+34T>C) c.96+34T>C (n.96+34T>C) c.123+34T>C (n.123+34T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528052T= | CA1948196838 | KCNQ1 | c.216+34T= (n.216+34T=) c.477+34T= (n.477+34T=) c.96+34T= (n.96+34T=) c.123+34T= (n.123+34T=) | |
11 | g.2528053G>T | CA2612002886 | KCNQ1 | c.216+35G>T (n.216+35G>T) c.477+35G>T (n.477+35G>T) c.96+35G>T (n.96+35G>T) c.123+35G>T (n.123+35G>T) | gnomAD v4 |
11 | g.2528054G>A | CA597101309 | KCNQ1 | c.216+36G>A (n.216+36G>A) c.477+36G>A (n.477+36G>A) c.96+36G>A (n.96+36G>A) c.123+36G>A (n.123+36G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2528054G= | CA1948196839 | KCNQ1 | c.216+36G= (n.216+36G=) c.477+36G= (n.477+36G=) c.96+36G= (n.96+36G=) c.123+36G= (n.123+36G=) | |
11 | g.2528054G>T | CA2612002889 | KCNQ1 | c.216+36G>T (n.216+36G>T) c.477+36G>T (n.477+36G>T) c.96+36G>T (n.96+36G>T) c.123+36G>T (n.123+36G>T) | gnomAD v4 |
11 | g.2528055C>A | CA2612002891 | KCNQ1 | c.216+37C>A (n.216+37C>A) c.477+37C>A (n.477+37C>A) c.96+37C>A (n.96+37C>A) c.123+37C>A (n.123+37C>A) | gnomAD v4 |
11 | g.2528055C= | CA1948196841 | KCNQ1 | c.216+37C= (n.216+37C=) c.477+37C= (n.477+37C=) c.96+37C= (n.96+37C=) c.123+37C= (n.123+37C=) | |
11 | g.2528055C>T | CA597101311 | KCNQ1 | c.216+37C>T (n.216+37C>T) c.477+37C>T (n.477+37C>T) c.96+37C>T (n.96+37C>T) c.123+37C>T (n.123+37C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528057G>A | CA037467 | KCNQ1 | c.216+39G>A (n.216+39G>A) c.477+39G>A (n.477+39G>A) c.96+39G>A (n.96+39G>A) c.123+39G>A (n.123+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2528057G= | CA1948196843 | KCNQ1 | c.216+39G= (n.216+39G=) c.477+39G= (n.477+39G=) c.96+39G= (n.96+39G=) c.123+39G= (n.123+39G=) | |
11 | g.2528057G>T | CA2574728118 | KCNQ1 | c.216+39G>T (n.216+39G>T) c.477+39G>T (n.477+39G>T) c.96+39G>T (n.96+39G>T) c.123+39G>T (n.123+39G>T) | gnomAD v4 |
11 | g.2528058C>A | CA2612002900 | KCNQ1 | c.216+40C>A (n.216+40C>A) c.477+40C>A (n.477+40C>A) c.96+40C>A (n.96+40C>A) c.123+40C>A (n.123+40C>A) | gnomAD v4 |
11 | g.2528058C= | CA1948196845 | KCNQ1 | c.216+40C= (n.216+40C=) c.477+40C= (n.477+40C=) c.96+40C= (n.96+40C=) c.123+40C= (n.123+40C=) | |
11 | g.2528058C>G | CA037485 | KCNQ1 | c.216+40C>G (n.216+40C>G) c.477+40C>G (n.477+40C>G) c.96+40C>G (n.96+40C>G) c.123+40C>G (n.123+40C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2528058C>T | CA2612002897 | KCNQ1 | c.216+40C>T (n.216+40C>T) c.477+40C>T (n.477+40C>T) c.96+40C>T (n.96+40C>T) c.123+40C>T (n.123+40C>T) | gnomAD v4 |
11 | g.2528059C>A | CA2574728119 | KCNQ1 | c.216+41C>A (n.216+41C>A) c.477+41C>A (n.477+41C>A) c.96+41C>A (n.96+41C>A) c.123+41C>A (n.123+41C>A) | |
11 | g.2528060T>A | CA2612002903 | KCNQ1 | c.216+42T>A (n.216+42T>A) c.477+42T>A (n.477+42T>A) c.96+42T>A (n.96+42T>A) c.123+42T>A (n.123+42T>A) | gnomAD v4 |
11 | g.2528061T>C | CA2612002904 | KCNQ1 | c.216+43T>C (n.216+43T>C) c.477+43T>C (n.477+43T>C) c.96+43T>C (n.96+43T>C) c.123+43T>C (n.123+43T>C) | gnomAD v4 |
11 | g.2528062G>A | CA216319681 | KCNQ1 | c.216+44G>A (n.216+44G>A) c.477+44G>A (n.477+44G>A) c.96+44G>A (n.96+44G>A) c.123+44G>A (n.123+44G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2528062G= | CA1948196849 | KCNQ1 | c.216+44G= (n.216+44G=) c.477+44G= (n.477+44G=) c.96+44G= (n.96+44G=) c.123+44G= (n.123+44G=) | |
11 | g.2528062G>T | CA2612002906 | KCNQ1 | c.216+44G>T (n.216+44G>T) c.477+44G>T (n.477+44G>T) c.96+44G>T (n.96+44G>T) c.123+44G>T (n.123+44G>T) | gnomAD v4 |