Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2572922_2572941delinsACGCGGTGAACGAGTCAGGC | CA1948212052 | KCNQ1 | c.596_615delinsACGCGGTGAACGAGTCAGGC (p.Asp199=) c.478-10513_478-10494delinsACGCGGTGAACGAGTCAGGC (n.478-10513_478-10494delinsACGCGGTGAACGAGTCAGGC) c.857_876delinsACGCGGTGAACGAGTCAGGC (p.Asp286=) c.476_495delinsACGCGGTGAACGAGTCAGGC (p.Asp159=) c.124-10513_124-10494delinsACGCGGTGAACGAGTCAGGC (n.124-10513_124-10494delinsACGCGGTGAACGAGTCAGGC) | |
11 | g.2572927_2572945del | CA008499 | KCNQ1 | c.601_619del (p.Val201TrpfsTer?) c.478-10508_478-10490del (n.478-10508_478-10490del) c.862_880del (p.Val288TrpfsTer?) c.481_499del (p.Val161TrpfsTer?) c.124-10508_124-10490del (n.124-10508_124-10490del) | ClinVar dbSNP gnomAD v4 |
11 | g.2572927G>A | CA379131556 | KCNQ1 | c.601G>A (p.Val201Met) c.478-10508G>A (n.478-10508G>A) c.862G>A (p.Val288Met) c.481G>A (p.Val161Met) c.124-10508G>A (n.124-10508G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.2572927G>C | CA379131555 | KCNQ1 | c.601G>C (p.Val201Leu) c.478-10508G>C (n.478-10508G>C) c.862G>C (p.Val288Leu) c.481G>C (p.Val161Leu) c.124-10508G>C (n.124-10508G>C) | |
11 | g.2572927G= | CA1948212102 | KCNQ1 | c.601G= (p.Val201=) c.478-10508G= (n.478-10508G=) c.862G= (p.Val288=) c.481G= (p.Val161=) c.124-10508G= (n.124-10508G=) | |
11 | g.2572927G>T | CA216312748 | KCNQ1 | c.601G>T (p.Val201Leu) c.478-10508G>T (n.478-10508G>T) c.862G>T (p.Val288Leu) c.481G>T (p.Val161Leu) c.124-10508G>T (n.124-10508G>T) | dbSNP gnomAD v4 |
11 | g.2572928T>A | CA379131559 | KCNQ1 | c.602T>A (p.Val201Glu) c.478-10507T>A (n.478-10507T>A) c.863T>A (p.Val288Glu) c.482T>A (p.Val161Glu) c.124-10507T>A (n.124-10507T>A) | |
11 | g.2572928T>C | CA379131557 | KCNQ1 | c.602T>C (p.Val201Ala) c.478-10507T>C (n.478-10507T>C) c.863T>C (p.Val288Ala) c.482T>C (p.Val161Ala) c.124-10507T>C (n.124-10507T>C) | |
11 | g.2572928T>G | CA379131558 | KCNQ1 | c.602T>G (p.Val201Gly) c.478-10507T>G (n.478-10507T>G) c.863T>G (p.Val288Gly) c.482T>G (p.Val161Gly) c.124-10507T>G (n.124-10507T>G) | |
11 | g.2572929G>A | CA472038176 | KCNQ1 | c.603G>A (p.Val201=) c.478-10506G>A (n.478-10506G>A) c.864G>A (p.Val288=) c.483G>A (p.Val161=) c.124-10506G>A (n.124-10506G>A) | ClinVar gnomAD v4 |
11 | g.2572929G>C | CA472038178 | KCNQ1 | c.603G>C (p.Val201=) c.478-10506G>C (n.478-10506G>C) c.864G>C (p.Val288=) c.483G>C (p.Val161=) c.124-10506G>C (n.124-10506G>C) | |
11 | g.2572929G>T | CA472038177 | KCNQ1 | c.603G>T (p.Val201=) c.478-10506G>T (n.478-10506G>T) c.864G>T (p.Val288=) c.483G>T (p.Val161=) c.124-10506G>T (n.124-10506G>T) | gnomAD v4 |
11 | g.2572930A>C | CA379131560 | KCNQ1 | c.604A>C (p.Asn202His) c.478-10505A>C (n.478-10505A>C) c.865A>C (p.Asn289His) c.484A>C (p.Asn162His) c.124-10505A>C (n.124-10505A>C) | |
11 | g.2572930A>G | CA379131561 | KCNQ1 | c.604A>G (p.Asn202Asp) c.478-10505A>G (n.478-10505A>G) c.865A>G (p.Asn289Asp) c.484A>G (p.Asn162Asp) c.124-10505A>G (n.124-10505A>G) | ClinVar |
11 | g.2572930A>T | CA379131562 | KCNQ1 | c.604A>T (p.Asn202Tyr) c.478-10505A>T (n.478-10505A>T) c.865A>T (p.Asn289Tyr) c.484A>T (p.Asn162Tyr) c.124-10505A>T (n.124-10505A>T) | |
11 | g.2572931A>C | CA379131563 | KCNQ1 | c.605A>C (p.Asn202Thr) c.478-10504A>C (n.478-10504A>C) c.866A>C (p.Asn289Thr) c.485A>C (p.Asn162Thr) c.124-10504A>C (n.124-10504A>C) | |
11 | g.2572931A>G | CA379131564 | KCNQ1 | c.605A>G (p.Asn202Ser) c.478-10504A>G (n.478-10504A>G) c.866A>G (p.Asn289Ser) c.485A>G (p.Asn162Ser) c.124-10504A>G (n.124-10504A>G) | |
11 | g.2572931A>T | CA379131565 | KCNQ1 | c.605A>T (p.Asn202Ile) c.478-10504A>T (n.478-10504A>T) c.866A>T (p.Asn289Ile) c.485A>T (p.Asn162Ile) c.124-10504A>T (n.124-10504A>T) | |
11 | g.2572932C>A | CA379131566 | KCNQ1 | c.606C>A (p.Asn202Lys) c.478-10503C>A (n.478-10503C>A) c.867C>A (p.Asn289Lys) c.486C>A (p.Asn162Lys) c.124-10503C>A (n.124-10503C>A) | |
11 | g.2572932C= | CA1948212115 | KCNQ1 | c.606C= (p.Asn202=) c.478-10503C= (n.478-10503C=) c.867C= (p.Asn289=) c.486C= (p.Asn162=) c.124-10503C= (n.124-10503C=) | |
11 | g.2572932C>G | CA379131567 | KCNQ1 | c.606C>G (p.Asn202Lys) c.478-10503C>G (n.478-10503C>G) c.867C>G (p.Asn289Lys) c.486C>G (p.Asn162Lys) c.124-10503C>G (n.124-10503C>G) | |
11 | g.2572932C>T | CA472038179 | KCNQ1 | c.606C>T (p.Asn202=) c.478-10503C>T (n.478-10503C>T) c.867C>T (p.Asn289=) c.486C>T (p.Asn162=) c.124-10503C>T (n.124-10503C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572933G>A | CA008514 | KCNQ1 | c.607G>A (p.Glu203Lys) c.478-10502G>A (n.478-10502G>A) c.868G>A (p.Glu290Lys) c.487G>A (p.Glu163Lys) c.124-10502G>A (n.124-10502G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572933G>C | CA379131569 | KCNQ1 | c.607G>C (p.Glu203Gln) c.478-10502G>C (n.478-10502G>C) c.868G>C (p.Glu290Gln) c.487G>C (p.Glu163Gln) c.124-10502G>C (n.124-10502G>C) | gnomAD v4 |
11 | g.2572933G= | CA1948212124 | KCNQ1 | c.607G= (p.Glu203=) c.478-10502G= (n.478-10502G=) c.868G= (p.Glu290=) c.487G= (p.Glu163=) c.124-10502G= (n.124-10502G=) | |
11 | g.2572933G>T | CA379131571 | KCNQ1 | c.607G>T (p.Glu203Ter) c.478-10502G>T (n.478-10502G>T) c.868G>T (p.Glu290Ter) c.487G>T (p.Glu163Ter) c.124-10502G>T (n.124-10502G>T) | |
11 | g.2572934A>C | CA379131573 | KCNQ1 | c.608A>C (p.Glu203Ala) c.478-10501A>C (n.478-10501A>C) c.869A>C (p.Glu290Ala) c.488A>C (p.Glu163Ala) c.124-10501A>C (n.124-10501A>C) | |
11 | g.2572934A>G | CA379131576 | KCNQ1 | c.608A>G (p.Glu203Gly) c.478-10501A>G (n.478-10501A>G) c.869A>G (p.Glu290Gly) c.488A>G (p.Glu163Gly) c.124-10501A>G (n.124-10501A>G) | ClinVar |
11 | g.2572934A>T | CA379131574 | KCNQ1 | c.608A>T (p.Glu203Val) c.478-10501A>T (n.478-10501A>T) c.869A>T (p.Glu290Val) c.488A>T (p.Glu163Val) c.124-10501A>T (n.124-10501A>T) | |
11 | g.2572935G>A | CA472038180 | KCNQ1 | c.609G>A (p.Glu203=) c.478-10500G>A (n.478-10500G>A) c.870G>A (p.Glu290=) c.489G>A (p.Glu163=) c.124-10500G>A (n.124-10500G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2572935G>C | CA379131577 | KCNQ1 | c.609G>C (p.Glu203Asp) c.478-10500G>C (n.478-10500G>C) c.870G>C (p.Glu290Asp) c.489G>C (p.Glu163Asp) c.124-10500G>C (n.124-10500G>C) | |
11 | g.2572935G= | CA1948212135 | KCNQ1 | c.609G= (p.Glu203=) c.478-10500G= (n.478-10500G=) c.870G= (p.Glu290=) c.489G= (p.Glu163=) c.124-10500G= (n.124-10500G=) | |
11 | g.2572935G>T | CA379131579 | KCNQ1 | c.609G>T (p.Glu203Asp) c.478-10500G>T (n.478-10500G>T) c.870G>T (p.Glu290Asp) c.489G>T (p.Glu163Asp) c.124-10500G>T (n.124-10500G>T) | |
11 | g.2572936T>A | CA379131582 | KCNQ1 | c.610T>A (p.Ser204Thr) c.478-10499T>A (n.478-10499T>A) c.871T>A (p.Ser291Thr) c.490T>A (p.Ser164Thr) c.124-10499T>A (n.124-10499T>A) | |
11 | g.2572936T>C | CA379131583 | KCNQ1 | c.610T>C (p.Ser204Pro) c.478-10499T>C (n.478-10499T>C) c.871T>C (p.Ser291Pro) c.490T>C (p.Ser164Pro) c.124-10499T>C (n.124-10499T>C) | |
11 | g.2572936T>G | CA379131585 | KCNQ1 | c.610T>G (p.Ser204Ala) c.478-10499T>G (n.478-10499T>G) c.871T>G (p.Ser291Ala) c.490T>G (p.Ser164Ala) c.124-10499T>G (n.124-10499T>G) | |
11 | g.2572937C>A | CA379131588 | KCNQ1 | c.611C>A (p.Ser204Ter) c.478-10498C>A (n.478-10498C>A) c.872C>A (p.Ser291Ter) c.491C>A (p.Ser164Ter) c.124-10498C>A (n.124-10498C>A) | gnomAD v4 |
11 | g.2572937C= | CA1948212142 | KCNQ1 | c.611C= (p.Ser204=) c.478-10498C= (n.478-10498C=) c.872C= (p.Ser291=) c.491C= (p.Ser164=) c.124-10498C= (n.124-10498C=) | |
11 | g.2572937C>G | CA379131590 | KCNQ1 | c.611C>G (p.Ser204Ter) c.478-10498C>G (n.478-10498C>G) c.872C>G (p.Ser291Ter) c.491C>G (p.Ser164Ter) c.124-10498C>G (n.124-10498C>G) | |
11 | g.2572937C>T | CA379131592 | KCNQ1 | c.611C>T (p.Ser204Leu) c.478-10498C>T (n.478-10498C>T) c.872C>T (p.Ser291Leu) c.491C>T (p.Ser164Leu) c.124-10498C>T (n.124-10498C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2572938A= | CA1948212171 | KCNQ1 | c.612A= (p.Ser204=) c.478-10497A= (n.478-10497A=) c.873A= (p.Ser291=) c.492A= (p.Ser164=) c.124-10497A= (n.124-10497A=) | |
11 | g.2572938A>C | CA472038181 | KCNQ1 | c.612A>C (p.Ser204=) c.478-10497A>C (n.478-10497A>C) c.873A>C (p.Ser291=) c.492A>C (p.Ser164=) c.124-10497A>C (n.124-10497A>C) | |
11 | g.2572938A>G | CA472038182 | KCNQ1 | c.612A>G (p.Ser204=) c.478-10497A>G (n.478-10497A>G) c.873A>G (p.Ser291=) c.492A>G (p.Ser164=) c.124-10497A>G (n.124-10497A>G) | ClinVar dbSNP gnomAD v4 |
11 | g.2572938A>T | CA472038183 | KCNQ1 | c.612A>T (p.Ser204=) c.478-10497A>T (n.478-10497A>T) c.873A>T (p.Ser291=) c.492A>T (p.Ser164=) c.124-10497A>T (n.124-10497A>T) | |
11 | g.2572939G>A | CA379131594 | KCNQ1 | c.613G>A (p.Gly205Ser) c.478-10496G>A (n.478-10496G>A) c.874G>A (p.Gly292Ser) c.493G>A (p.Gly165Ser) c.124-10496G>A (n.124-10496G>A) | |
11 | g.2572939G>C | CA379131597 | KCNQ1 | c.613G>C (p.Gly205Arg) c.478-10496G>C (n.478-10496G>C) c.874G>C (p.Gly292Arg) c.493G>C (p.Gly165Arg) c.124-10496G>C (n.124-10496G>C) | |
11 | g.2572939G>T | CA379131599 | KCNQ1 | c.613G>T (p.Gly205Cys) c.478-10496G>T (n.478-10496G>T) c.874G>T (p.Gly292Cys) c.493G>T (p.Gly165Cys) c.124-10496G>T (n.124-10496G>T) | |
11 | g.2572940G>A | CA008520 | KCNQ1 | c.614G>A (p.Gly205Asp) c.478-10495G>A (n.478-10495G>A) c.875G>A (p.Gly292Asp) c.494G>A (p.Gly165Asp) c.124-10495G>A (n.124-10495G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572940G>C | CA379131605 | KCNQ1 | c.614G>C (p.Gly205Ala) c.478-10495G>C (n.478-10495G>C) c.875G>C (p.Gly292Ala) c.494G>C (p.Gly165Ala) c.124-10495G>C (n.124-10495G>C) | |
11 | g.2572940G= | CA1948212180 | KCNQ1 | c.614G= (p.Gly205=) c.478-10495G= (n.478-10495G=) c.875G= (p.Gly292=) c.494G= (p.Gly165=) c.124-10495G= (n.124-10495G=) | |
11 | g.2572940G>T | CA379131602 | KCNQ1 | c.614G>T (p.Gly205Val) c.478-10495G>T (n.478-10495G>T) c.875G>T (p.Gly292Val) c.494G>T (p.Gly165Val) c.124-10495G>T (n.124-10495G>T) | |
11 | g.2572941C>A | CA472038184 | KCNQ1 | c.615C>A (p.Gly205=) c.478-10494C>A (n.478-10494C>A) c.876C>A (p.Gly292=) c.495C>A (p.Gly165=) c.124-10494C>A (n.124-10494C>A) | |
11 | g.2572941C= | CA1948212189 | KCNQ1 | c.615C= (p.Gly205=) c.478-10494C= (n.478-10494C=) c.876C= (p.Gly292=) c.495C= (p.Gly165=) c.124-10494C= (n.124-10494C=) | |
11 | g.2572941C>G | CA472038185 | KCNQ1 | c.615C>G (p.Gly205=) c.478-10494C>G (n.478-10494C>G) c.876C>G (p.Gly292=) c.495C>G (p.Gly165=) c.124-10494C>G (n.124-10494C>G) | COSMIC COSMIC |
11 | g.2572941C>T | CA216312760 | KCNQ1 | c.615C>T (p.Gly205=) c.478-10494C>T (n.478-10494C>T) c.876C>T (p.Gly292=) c.495C>T (p.Gly165=) c.124-10494C>T (n.124-10494C>T) | dbSNP gnomAD v4 |
11 | g.2572942C>A | CA379131607 | KCNQ1 | c.616C>A (p.Arg206Ser) c.478-10493C>A (n.478-10493C>A) c.877C>A (p.Arg293Ser) c.496C>A (p.Arg166Ser) c.124-10493C>A (n.124-10493C>A) | gnomAD v4 |
11 | g.2572942C= | CA1948212196 | KCNQ1 | c.616C= (p.Arg206=) c.478-10493C= (n.478-10493C=) c.877C= (p.Arg293=) c.496C= (p.Arg166=) c.124-10493C= (n.124-10493C=) | |
11 | g.2572942C>G | CA379131610 | KCNQ1 | c.616C>G (p.Arg206Gly) c.478-10493C>G (n.478-10493C>G) c.877C>G (p.Arg293Gly) c.496C>G (p.Arg166Gly) c.124-10493C>G (n.124-10493C>G) | |
11 | g.2572942C>T | CA008527 | KCNQ1 | c.616C>T (p.Arg206Cys) c.478-10493C>T (n.478-10493C>T) c.877C>T (p.Arg293Cys) c.496C>T (p.Arg166Cys) c.124-10493C>T (n.124-10493C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572943G>A | CA008532 | KCNQ1 | c.617G>A (p.Arg206His) c.478-10492G>A (n.478-10492G>A) c.878G>A (p.Arg293His) c.497G>A (p.Arg166His) c.124-10492G>A (n.124-10492G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.2572943G>C | CA379131611 | KCNQ1 | c.617G>C (p.Arg206Pro) c.478-10492G>C (n.478-10492G>C) c.878G>C (p.Arg293Pro) c.497G>C (p.Arg166Pro) c.124-10492G>C (n.124-10492G>C) | |
11 | g.2572943G= | CA1948212205 | KCNQ1 | c.617G= (p.Arg206=) c.478-10492G= (n.478-10492G=) c.878G= (p.Arg293=) c.497G= (p.Arg166=) c.124-10492G= (n.124-10492G=) | |
11 | g.2572943G>T | CA216312773 | KCNQ1 | c.617G>T (p.Arg206Leu) c.478-10492G>T (n.478-10492G>T) c.878G>T (p.Arg293Leu) c.497G>T (p.Arg166Leu) c.124-10492G>T (n.124-10492G>T) | dbSNP |
11 | g.2572944C>A | CA041155 | KCNQ1 | c.618C>A (p.Arg206=) c.478-10491C>A (n.478-10491C>A) c.879C>A (p.Arg293=) c.498C>A (p.Arg166=) c.124-10491C>A (n.124-10491C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572944C= | CA1948212215 | KCNQ1 | c.618C= (p.Arg206=) c.478-10491C= (n.478-10491C=) c.879C= (p.Arg293=) c.498C= (p.Arg166=) c.124-10491C= (n.124-10491C=) | |
11 | g.2572944C>G | CA472038186 | KCNQ1 | c.618C>G (p.Arg206=) c.478-10491C>G (n.478-10491C>G) c.879C>G (p.Arg293=) c.498C>G (p.Arg166=) c.124-10491C>G (n.124-10491C>G) | |
11 | g.2572944C>T | CA041171 | KCNQ1 | c.618C>T (p.Arg206=) c.478-10491C>T (n.478-10491C>T) c.879C>T (p.Arg293=) c.498C>T (p.Arg166=) c.124-10491C>T (n.124-10491C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572945G>A | CA041183 | KCNQ1 | c.619G>A (p.Val207Met) c.478-10490G>A (n.478-10490G>A) c.880G>A (p.Val294Met) c.499G>A (p.Val167Met) c.124-10490G>A (n.124-10490G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572945G>C | CA379131614 | KCNQ1 | c.619G>C (p.Val207Leu) c.478-10490G>C (n.478-10490G>C) c.880G>C (p.Val294Leu) c.499G>C (p.Val167Leu) c.124-10490G>C (n.124-10490G>C) | |
11 | g.2572945G= | CA1948212223 | KCNQ1 | c.619G= (p.Val207=) c.478-10490G= (n.478-10490G=) c.880G= (p.Val294=) c.499G= (p.Val167=) c.124-10490G= (n.124-10490G=) | |
11 | g.2572945G>T | CA379131617 | KCNQ1 | c.619G>T (p.Val207Leu) c.478-10490G>T (n.478-10490G>T) c.880G>T (p.Val294Leu) c.499G>T (p.Val167Leu) c.124-10490G>T (n.124-10490G>T) | gnomAD v4 |
11 | g.2572946T>A | CA379131619 | KCNQ1 | c.620T>A (p.Val207Glu) c.478-10489T>A (n.478-10489T>A) c.881T>A (p.Val294Glu) c.500T>A (p.Val167Glu) c.124-10489T>A (n.124-10489T>A) | |
11 | g.2572946T>C | CA379131620 | KCNQ1 | c.620T>C (p.Val207Ala) c.478-10489T>C (n.478-10489T>C) c.881T>C (p.Val294Ala) c.500T>C (p.Val167Ala) c.124-10489T>C (n.124-10489T>C) | |
11 | g.2572946T>G | CA379131622 | KCNQ1 | c.620T>G (p.Val207Gly) c.478-10489T>G (n.478-10489T>G) c.881T>G (p.Val294Gly) c.500T>G (p.Val167Gly) c.124-10489T>G (n.124-10489T>G) | |
11 | g.2572947G>A | CA472038187 | KCNQ1 | c.621G>A (p.Val207=) c.478-10488G>A (n.478-10488G>A) c.882G>A (p.Val294=) c.501G>A (p.Val167=) c.124-10488G>A (n.124-10488G>A) | |
11 | g.2572947G>C | CA472038188 | KCNQ1 | c.621G>C (p.Val207=) c.478-10488G>C (n.478-10488G>C) c.882G>C (p.Val294=) c.501G>C (p.Val167=) c.124-10488G>C (n.124-10488G>C) | |
11 | g.2572947G>T | CA472038189 | KCNQ1 | c.621G>T (p.Val207=) c.478-10488G>T (n.478-10488G>T) c.882G>T (p.Val294=) c.501G>T (p.Val167=) c.124-10488G>T (n.124-10488G>T) | |
11 | g.2572948G>A | CA379131627 | KCNQ1 | c.622G>A (p.Glu208Lys) c.478-10487G>A (n.478-10487G>A) c.883G>A (p.Glu295Lys) c.502G>A (p.Glu168Lys) c.124-10487G>A (n.124-10487G>A) | |
11 | g.2572948G>C | CA379131626 | KCNQ1 | c.622G>C (p.Glu208Gln) c.478-10487G>C (n.478-10487G>C) c.883G>C (p.Glu295Gln) c.502G>C (p.Glu168Gln) c.124-10487G>C (n.124-10487G>C) | |
11 | g.2572948G>T | CA379131625 | KCNQ1 | c.622G>T (p.Glu208Ter) c.478-10487G>T (n.478-10487G>T) c.883G>T (p.Glu295Ter) c.502G>T (p.Glu168Ter) c.124-10487G>T (n.124-10487G>T) | |
11 | g.2572949A>C | CA379131628 | KCNQ1 | c.623A>C (p.Glu208Ala) c.478-10486A>C (n.478-10486A>C) c.884A>C (p.Glu295Ala) c.503A>C (p.Glu168Ala) c.124-10486A>C (n.124-10486A>C) | |
11 | g.2572949A>G | CA379131630 | KCNQ1 | c.623A>G (p.Glu208Gly) c.478-10486A>G (n.478-10486A>G) c.884A>G (p.Glu295Gly) c.503A>G (p.Glu168Gly) c.124-10486A>G (n.124-10486A>G) | |
11 | g.2572949A>T | CA379131632 | KCNQ1 | c.623A>T (p.Glu208Val) c.478-10486A>T (n.478-10486A>T) c.884A>T (p.Glu295Val) c.503A>T (p.Glu168Val) c.124-10486A>T (n.124-10486A>T) | |
11 | g.2572950G>A | CA472038190 | KCNQ1 | c.624G>A (p.Glu208=) c.478-10485G>A (n.478-10485G>A) c.885G>A (p.Glu295=) c.504G>A (p.Glu168=) c.124-10485G>A (n.124-10485G>A) | ClinVar gnomAD v4 |
11 | g.2572950G>C | CA379131634 | KCNQ1 | c.624G>C (p.Glu208Asp) c.478-10485G>C (n.478-10485G>C) c.885G>C (p.Glu295Asp) c.504G>C (p.Glu168Asp) c.124-10485G>C (n.124-10485G>C) | |
11 | g.2572950G>T | CA379131636 | KCNQ1 | c.624G>T (p.Glu208Asp) c.478-10485G>T (n.478-10485G>T) c.885G>T (p.Glu295Asp) c.504G>T (p.Glu168Asp) c.124-10485G>T (n.124-10485G>T) | |
11 | g.2572951T>A | CA379131638 | KCNQ1 | c.625T>A (p.Phe209Ile) c.478-10484T>A (n.478-10484T>A) c.886T>A (p.Phe296Ile) c.505T>A (p.Phe169Ile) c.124-10484T>A (n.124-10484T>A) | |
11 | g.2572951T>C | CA379131640 | KCNQ1 | c.625T>C (p.Phe209Leu) c.478-10484T>C (n.478-10484T>C) c.886T>C (p.Phe296Leu) c.505T>C (p.Phe169Leu) c.124-10484T>C (n.124-10484T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2572951T>G | CA379131642 | KCNQ1 | c.625T>G (p.Phe209Val) c.478-10484T>G (n.478-10484T>G) c.886T>G (p.Phe296Val) c.505T>G (p.Phe169Val) c.124-10484T>G (n.124-10484T>G) | |
11 | g.2572952T>A | CA379131643 | KCNQ1 | c.626T>A (p.Phe209Tyr) c.478-10483T>A (n.478-10483T>A) c.887T>A (p.Phe296Tyr) c.506T>A (p.Phe169Tyr) c.124-10483T>A (n.124-10483T>A) | |
11 | g.2572952T>C | CA008541 | KCNQ1 | c.626T>C (p.Phe209Ser) c.478-10483T>C (n.478-10483T>C) c.887T>C (p.Phe296Ser) c.506T>C (p.Phe169Ser) c.124-10483T>C (n.124-10483T>C) | ClinVar dbSNP |
11 | g.2572952T>G | CA379131646 | KCNQ1 | c.626T>G (p.Phe209Cys) c.478-10483T>G (n.478-10483T>G) c.887T>G (p.Phe296Cys) c.506T>G (p.Phe169Cys) c.124-10483T>G (n.124-10483T>G) | |
11 | g.2572952T= | CA1948212235 | KCNQ1 | c.626T= (p.Phe209=) c.478-10483T= (n.478-10483T=) c.887T= (p.Phe296=) c.506T= (p.Phe169=) c.124-10483T= (n.124-10483T=) | |
11 | g.2572953C>A | CA379131652 | KCNQ1 | c.627C>A (p.Phe209Leu) c.478-10482C>A (n.478-10482C>A) c.888C>A (p.Phe296Leu) c.507C>A (p.Phe169Leu) c.124-10482C>A (n.124-10482C>A) | |
11 | g.2572953C= | CA1948212242 | KCNQ1 | c.627C= (p.Phe209=) c.478-10482C= (n.478-10482C=) c.888C= (p.Phe296=) c.507C= (p.Phe169=) c.124-10482C= (n.124-10482C=) | |
11 | g.2572953C>G | CA379131651 | KCNQ1 | c.627C>G (p.Phe209Leu) c.478-10482C>G (n.478-10482C>G) c.888C>G (p.Phe296Leu) c.507C>G (p.Phe169Leu) c.124-10482C>G (n.124-10482C>G) | |
11 | g.2572953C>T | CA041199 | KCNQ1 | c.627C>T (p.Phe209=) c.478-10482C>T (n.478-10482C>T) c.888C>T (p.Phe296=) c.507C>T (p.Phe169=) c.124-10482C>T (n.124-10482C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2572954G>A | CA008547 | KCNQ1 | c.628G>A (p.Gly210Ser) c.478-10481G>A (n.478-10481G>A) c.889G>A (p.Gly297Ser) c.508G>A (p.Gly170Ser) c.124-10481G>A (n.124-10481G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572954G>C | CA041239 | KCNQ1 | c.628G>C (p.Gly210Arg) c.478-10481G>C (n.478-10481G>C) c.889G>C (p.Gly297Arg) c.508G>C (p.Gly170Arg) c.124-10481G>C (n.124-10481G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2572954G= | CA1948212251 | KCNQ1 | c.628G= (p.Gly210=) c.478-10481G= (n.478-10481G=) c.889G= (p.Gly297=) c.508G= (p.Gly170=) c.124-10481G= (n.124-10481G=) | |
11 | g.2572954G>T | CA379131655 | KCNQ1 | c.628G>T (p.Gly210Cys) c.478-10481G>T (n.478-10481G>T) c.889G>T (p.Gly297Cys) c.508G>T (p.Gly170Cys) c.124-10481G>T (n.124-10481G>T) | |
11 | g.2572955G>A | CA041258 | KCNQ1 | c.629G>A (p.Gly210Asp) c.478-10480G>A (n.478-10480G>A) c.890G>A (p.Gly297Asp) c.509G>A (p.Gly170Asp) c.124-10480G>A (n.124-10480G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2572955G>C | CA379131658 | KCNQ1 | c.629G>C (p.Gly210Ala) c.478-10480G>C (n.478-10480G>C) c.890G>C (p.Gly297Ala) c.509G>C (p.Gly170Ala) c.124-10480G>C (n.124-10480G>C) | |
11 | g.2572955G= | CA1948212260 | KCNQ1 | c.629G= (p.Gly210=) c.478-10480G= (n.478-10480G=) c.890G= (p.Gly297=) c.509G= (p.Gly170=) c.124-10480G= (n.124-10480G=) | |
11 | g.2572955G>T | CA379131660 | KCNQ1 | c.629G>T (p.Gly210Val) c.478-10480G>T (n.478-10480G>T) c.890G>T (p.Gly297Val) c.509G>T (p.Gly170Val) c.124-10480G>T (n.124-10480G>T) | |
11 | g.2572956C>A | CA041271 | KCNQ1 | c.630C>A (p.Gly210=) c.478-10479C>A (n.478-10479C>A) c.891C>A (p.Gly297=) c.510C>A (p.Gly170=) c.124-10479C>A (n.124-10479C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2572956C= | CA1948212263 | KCNQ1 | c.630C= (p.Gly210=) c.478-10479C= (n.478-10479C=) c.891C= (p.Gly297=) c.510C= (p.Gly170=) c.124-10479C= (n.124-10479C=) | |
11 | g.2572956C>G | CA472038191 | KCNQ1 | c.630C>G (p.Gly210=) c.478-10479C>G (n.478-10479C>G) c.891C>G (p.Gly297=) c.510C>G (p.Gly170=) c.124-10479C>G (n.124-10479C>G) | |
11 | g.2572956C>T | CA472038192 | KCNQ1 | c.630C>T (p.Gly210=) c.478-10479C>T (n.478-10479C>T) c.891C>T (p.Gly297=) c.510C>T (p.Gly170=) c.124-10479C>T (n.124-10479C>T) | |
11 | g.2572957A>C | CA379131663 | KCNQ1 | c.631A>C (p.Ser211Arg) c.478-10478A>C (n.478-10478A>C) c.892A>C (p.Ser298Arg) c.511A>C (p.Ser171Arg) c.124-10478A>C (n.124-10478A>C) | |
11 | g.2572957A>G | CA379131664 | KCNQ1 | c.631A>G (p.Ser211Gly) c.478-10478A>G (n.478-10478A>G) c.892A>G (p.Ser298Gly) c.511A>G (p.Ser171Gly) c.124-10478A>G (n.124-10478A>G) | |
11 | g.2572957A>T | CA379131666 | KCNQ1 | c.631A>T (p.Ser211Cys) c.478-10478A>T (n.478-10478A>T) c.892A>T (p.Ser298Cys) c.511A>T (p.Ser171Cys) c.124-10478A>T (n.124-10478A>T) | |
11 | g.2572958G>A | CA379131669 | KCNQ1 | c.632G>A (p.Ser211Asn) c.478-10477G>A (n.478-10477G>A) c.893G>A (p.Ser298Asn) c.512G>A (p.Ser171Asn) c.124-10477G>A (n.124-10477G>A) | dbSNP gnomAD v2 |
11 | g.2572958G>C | CA379131671 | KCNQ1 | c.632G>C (p.Ser211Thr) c.478-10477G>C (n.478-10477G>C) c.893G>C (p.Ser298Thr) c.512G>C (p.Ser171Thr) c.124-10477G>C (n.124-10477G>C) | gnomAD v4 |
11 | g.2572958G= | CA1948212271 | KCNQ1 | c.632G= (p.Ser211=) c.478-10477G= (n.478-10477G=) c.893G= (p.Ser298=) c.512G= (p.Ser171=) c.124-10477G= (n.124-10477G=) | |
11 | g.2572958G>T | CA379131674 | KCNQ1 | c.632G>T (p.Ser211Ile) c.478-10477G>T (n.478-10477G>T) c.893G>T (p.Ser298Ile) c.512G>T (p.Ser171Ile) c.124-10477G>T (n.124-10477G>T) | |
11 | g.2572959C>A | CA379131678 | KCNQ1 | c.633C>A (p.Ser211Arg) c.478-10476C>A (n.478-10476C>A) c.894C>A (p.Ser298Arg) c.513C>A (p.Ser171Arg) c.124-10476C>A (n.124-10476C>A) | ClinVar |
11 | g.2572959C= | CA1948212276 | KCNQ1 | c.633C= (p.Ser211=) c.478-10476C= (n.478-10476C=) c.894C= (p.Ser298=) c.513C= (p.Ser171=) c.124-10476C= (n.124-10476C=) | |
11 | g.2572959C>G | CA379131676 | KCNQ1 | c.633C>G (p.Ser211Arg) c.478-10476C>G (n.478-10476C>G) c.894C>G (p.Ser298Arg) c.513C>G (p.Ser171Arg) c.124-10476C>G (n.124-10476C>G) | dbSNP |
11 | g.2572959C>T | CA472038193 | KCNQ1 | c.633C>T (p.Ser211=) c.478-10476C>T (n.478-10476C>T) c.894C>T (p.Ser298=) c.513C>T (p.Ser171=) c.124-10476C>T (n.124-10476C>T) | |
11 | g.2572960T>A | CA379131681 | KCNQ1 | c.634T>A (p.Tyr212Asn) c.478-10475T>A (n.478-10475T>A) c.895T>A (p.Tyr299Asn) c.514T>A (p.Tyr172Asn) c.124-10475T>A (n.124-10475T>A) | |
11 | g.2572960T>C | CA379131682 | KCNQ1 | c.634T>C (p.Tyr212His) c.478-10475T>C (n.478-10475T>C) c.895T>C (p.Tyr299His) c.514T>C (p.Tyr172His) c.124-10475T>C (n.124-10475T>C) | |
11 | g.2572960T>G | CA379131684 | KCNQ1 | c.634T>G (p.Tyr212Asp) c.478-10475T>G (n.478-10475T>G) c.895T>G (p.Tyr299Asp) c.514T>G (p.Tyr172Asp) c.124-10475T>G (n.124-10475T>G) | |
11 | g.2572961A>C | CA379131686 | KCNQ1 | c.635A>C (p.Tyr212Ser) c.478-10474A>C (n.478-10474A>C) c.896A>C (p.Tyr299Ser) c.515A>C (p.Tyr172Ser) c.124-10474A>C (n.124-10474A>C) | |
11 | g.2572961A>G | CA379131688 | KCNQ1 | c.635A>G (p.Tyr212Cys) c.478-10474A>G (n.478-10474A>G) c.896A>G (p.Tyr299Cys) c.515A>G (p.Tyr172Cys) c.124-10474A>G (n.124-10474A>G) | |
11 | g.2572961A>T | CA379131689 | KCNQ1 | c.635A>T (p.Tyr212Phe) c.478-10474A>T (n.478-10474A>T) c.896A>T (p.Tyr299Phe) c.515A>T (p.Tyr172Phe) c.124-10474A>T (n.124-10474A>T) | |
11 | g.2572962C>A | CA379131690 | KCNQ1 | c.636C>A (p.Tyr212Ter) c.478-10473C>A (n.478-10473C>A) c.897C>A (p.Tyr299Ter) c.516C>A (p.Tyr172Ter) c.124-10473C>A (n.124-10473C>A) | |
11 | g.2572962C= | CA1948212281 | KCNQ1 | c.636C= (p.Tyr212=) c.478-10473C= (n.478-10473C=) c.897C= (p.Tyr299=) c.516C= (p.Tyr172=) c.124-10473C= (n.124-10473C=) | |
11 | g.2572962C>G | CA379131691 | KCNQ1 | c.636C>G (p.Tyr212Ter) c.478-10473C>G (n.478-10473C>G) c.897C>G (p.Tyr299Ter) c.516C>G (p.Tyr172Ter) c.124-10473C>G (n.124-10473C>G) | |
11 | g.2572962C>T | CA041293 | KCNQ1 | c.636C>T (p.Tyr212=) c.478-10473C>T (n.478-10473C>T) c.897C>T (p.Tyr299=) c.516C>T (p.Tyr172=) c.124-10473C>T (n.124-10473C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572963G>A | CA008554 | KCNQ1 | c.637G>A (p.Ala213Thr) c.478-10472G>A (n.478-10472G>A) c.898G>A (p.Ala300Thr) c.517G>A (p.Ala173Thr) c.124-10472G>A (n.124-10472G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572963G>C | CA379131695 | KCNQ1 | c.637G>C (p.Ala213Pro) c.478-10472G>C (n.478-10472G>C) c.898G>C (p.Ala300Pro) c.517G>C (p.Ala173Pro) c.124-10472G>C (n.124-10472G>C) | |
11 | g.2572963G= | CA1948212285 | KCNQ1 | c.637G= (p.Ala213=) c.478-10472G= (n.478-10472G=) c.898G= (p.Ala300=) c.517G= (p.Ala173=) c.124-10472G= (n.124-10472G=) | |
11 | g.2572963G>T | CA379131697 | KCNQ1 | c.637G>T (p.Ala213Ser) c.478-10472G>T (n.478-10472G>T) c.898G>T (p.Ala300Ser) c.517G>T (p.Ala173Ser) c.124-10472G>T (n.124-10472G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2572964C>A | CA16613563 | KCNQ1 | c.638C>A (p.Ala213Glu) c.478-10471C>A (n.478-10471C>A) c.899C>A (p.Ala300Glu) c.518C>A (p.Ala173Glu) c.124-10471C>A (n.124-10471C>A) | ClinVar dbSNP gnomAD v4 |
11 | g.2572964C= | CA1948212297 | KCNQ1 | c.638C= (p.Ala213=) c.478-10471C= (n.478-10471C=) c.899C= (p.Ala300=) c.518C= (p.Ala173=) c.124-10471C= (n.124-10471C=) | |
11 | g.2572964C>G | CA379131700 | KCNQ1 | c.638C>G (p.Ala213Gly) c.478-10471C>G (n.478-10471C>G) c.899C>G (p.Ala300Gly) c.518C>G (p.Ala173Gly) c.124-10471C>G (n.124-10471C>G) | ClinVar dbSNP gnomAD v4 |
11 | g.2572964C>T | CA379131701 | KCNQ1 | c.638C>T (p.Ala213Val) c.478-10471C>T (n.478-10471C>T) c.899C>T (p.Ala300Val) c.518C>T (p.Ala173Val) c.124-10471C>T (n.124-10471C>T) | |
11 | g.2572965A= | CA1948212305 | KCNQ1 | c.639A= (p.Ala213=) c.478-10470A= (n.478-10470A=) c.900A= (p.Ala300=) c.519A= (p.Ala173=) c.124-10470A= (n.124-10470A=) | |
11 | g.2572965A>C | CA008569 | KCNQ1 | c.639A>C (p.Ala213=) c.478-10470A>C (n.478-10470A>C) c.900A>C (p.Ala300=) c.519A>C (p.Ala173=) c.124-10470A>C (n.124-10470A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572965A>G | CA472038194 | KCNQ1 | c.639A>G (p.Ala213=) c.478-10470A>G (n.478-10470A>G) c.900A>G (p.Ala300=) c.519A>G (p.Ala173=) c.124-10470A>G (n.124-10470A>G) | gnomAD v4 |
11 | g.2572965A>T | CA472038195 | KCNQ1 | c.639A>T (p.Ala213=) c.478-10470A>T (n.478-10470A>T) c.900A>T (p.Ala300=) c.519A>T (p.Ala173=) c.124-10470A>T (n.124-10470A>T) | |
11 | g.2572966G>A | CA379131710 | KCNQ1 | c.640G>A (p.Asp214Asn) c.478-10469G>A (n.478-10469G>A) c.901G>A (p.Asp301Asn) c.520G>A (p.Asp174Asn) c.124-10469G>A (n.124-10469G>A) | COSMIC |
11 | g.2572966G>C | CA379131707 | KCNQ1 | c.640G>C (p.Asp214His) c.478-10469G>C (n.478-10469G>C) c.901G>C (p.Asp301His) c.520G>C (p.Asp174His) c.124-10469G>C (n.124-10469G>C) | |
11 | g.2572966G>T | CA379131713 | KCNQ1 | c.640G>T (p.Asp214Tyr) c.478-10469G>T (n.478-10469G>T) c.901G>T (p.Asp301Tyr) c.520G>T (p.Asp174Tyr) c.124-10469G>T (n.124-10469G>T) | ClinVar |
11 | g.2572967A= | CA1948212316 | KCNQ1 | c.641A= (p.Asp214=) c.478-10468A= (n.478-10468A=) c.902A= (p.Asp301=) c.521A= (p.Asp174=) c.124-10468A= (n.124-10468A=) | |
11 | g.2572967A>C | CA379131715 | KCNQ1 | c.641A>C (p.Asp214Ala) c.478-10468A>C (n.478-10468A>C) c.902A>C (p.Asp301Ala) c.521A>C (p.Asp174Ala) c.124-10468A>C (n.124-10468A>C) | |
11 | g.2572967A>G | CA379131718 | KCNQ1 | c.641A>G (p.Asp214Gly) c.478-10468A>G (n.478-10468A>G) c.902A>G (p.Asp301Gly) c.521A>G (p.Asp174Gly) c.124-10468A>G (n.124-10468A>G) | dbSNP |
11 | g.2572967A>T | CA379131717 | KCNQ1 | c.641A>T (p.Asp214Val) c.478-10468A>T (n.478-10468A>T) c.902A>T (p.Asp301Val) c.521A>T (p.Asp174Val) c.124-10468A>T (n.124-10468A>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2572968T>A | CA379131721 | KCNQ1 | c.642T>A (p.Asp214Glu) c.478-10467T>A (n.478-10467T>A) c.903T>A (p.Asp301Glu) c.522T>A (p.Asp174Glu) c.124-10467T>A (n.124-10467T>A) | |
11 | g.2572968T>C | CA472038196 | KCNQ1 | c.642T>C (p.Asp214=) c.478-10467T>C (n.478-10467T>C) c.903T>C (p.Asp301=) c.522T>C (p.Asp174=) c.124-10467T>C (n.124-10467T>C) | dbSNP |
11 | g.2572968T>G | CA379131723 | KCNQ1 | c.642T>G (p.Asp214Glu) c.478-10467T>G (n.478-10467T>G) c.903T>G (p.Asp301Glu) c.522T>G (p.Asp174Glu) c.124-10467T>G (n.124-10467T>G) | |
11 | g.2572969G>A | CA008575 | KCNQ1 | c.643G>A (p.Ala215Thr) c.478-10466G>A (n.478-10466G>A) c.904G>A (p.Ala302Thr) c.523G>A (p.Ala175Thr) c.124-10466G>A (n.124-10466G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.2572969G>C | CA379131729 | KCNQ1 | c.643G>C (p.Ala215Pro) c.478-10466G>C (n.478-10466G>C) c.904G>C (p.Ala302Pro) c.523G>C (p.Ala175Pro) c.124-10466G>C (n.124-10466G>C) | |
11 | g.2572969G= | CA1948212324 | KCNQ1 | c.643G= (p.Ala215=) c.478-10466G= (n.478-10466G=) c.904G= (p.Ala302=) c.523G= (p.Ala175=) c.124-10466G= (n.124-10466G=) | |
11 | g.2572969G>T | CA379131727 | KCNQ1 | c.643G>T (p.Ala215Ser) c.478-10466G>T (n.478-10466G>T) c.904G>T (p.Ala302Ser) c.523G>T (p.Ala175Ser) c.124-10466G>T (n.124-10466G>T) | |
11 | g.2572970C>A | CA008583 | KCNQ1 | c.644C>A (p.Ala215Glu) c.478-10465C>A (n.478-10465C>A) c.905C>A (p.Ala302Glu) c.524C>A (p.Ala175Glu) c.124-10465C>A (n.124-10465C>A) | ClinVar dbSNP |
11 | g.2572970C= | CA1948212334 | KCNQ1 | c.644C= (p.Ala215=) c.478-10465C= (n.478-10465C=) c.905C= (p.Ala302=) c.524C= (p.Ala175=) c.124-10465C= (n.124-10465C=) | |
11 | g.2572970C>G | CA379131737 | KCNQ1 | c.644C>G (p.Ala215Gly) c.478-10465C>G (n.478-10465C>G) c.905C>G (p.Ala302Gly) c.524C>G (p.Ala175Gly) c.124-10465C>G (n.124-10465C>G) | |
11 | g.2572970C>T | CA008587 | KCNQ1 | c.644C>T (p.Ala215Val) c.478-10465C>T (n.478-10465C>T) c.905C>T (p.Ala302Val) c.524C>T (p.Ala175Val) c.124-10465C>T (n.124-10465C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572971G>A | CA041359 | KCNQ1 | c.645G>A (p.Ala215=) c.478-10464G>A (n.478-10464G>A) c.906G>A (p.Ala302=) c.525G>A (p.Ala175=) c.124-10464G>A (n.124-10464G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572971G>C | CA472038197 | KCNQ1 | c.645G>C (p.Ala215=) c.478-10464G>C (n.478-10464G>C) c.906G>C (p.Ala302=) c.525G>C (p.Ala175=) c.124-10464G>C (n.124-10464G>C) | ClinVar |
11 | g.2572971G= | CA1948212345 | KCNQ1 | c.645G= (p.Ala215=) c.478-10464G= (n.478-10464G=) c.906G= (p.Ala302=) c.525G= (p.Ala175=) c.124-10464G= (n.124-10464G=) | |
11 | g.2572971G>T | CA041371 | KCNQ1 | c.645G>T (p.Ala215=) c.478-10464G>T (n.478-10464G>T) c.906G>T (p.Ala302=) c.525G>T (p.Ala175=) c.124-10464G>T (n.124-10464G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572972C>A | CA379131742 | KCNQ1 | c.646C>A (p.Leu216Met) c.478-10463C>A (n.478-10463C>A) c.907C>A (p.Leu303Met) c.526C>A (p.Leu176Met) c.124-10463C>A (n.124-10463C>A) | |
11 | g.2572972C>G | CA379131743 | KCNQ1 | c.646C>G (p.Leu216Val) c.478-10463C>G (n.478-10463C>G) c.907C>G (p.Leu303Val) c.526C>G (p.Leu176Val) c.124-10463C>G (n.124-10463C>G) | |
11 | g.2572972C>T | CA472038198 | KCNQ1 | c.646C>T (p.Leu216=) c.478-10463C>T (n.478-10463C>T) c.907C>T (p.Leu303=) c.526C>T (p.Leu176=) c.124-10463C>T (n.124-10463C>T) | |
11 | g.2572973T>A | CA379131745 | KCNQ1 | c.647T>A (p.Leu216Gln) c.478-10462T>A (n.478-10462T>A) c.908T>A (p.Leu303Gln) c.527T>A (p.Leu176Gln) c.124-10462T>A (n.124-10462T>A) | |
11 | g.2572973T>C | CA008593 | KCNQ1 | c.647T>C (p.Leu216Pro) c.478-10462T>C (n.478-10462T>C) c.908T>C (p.Leu303Pro) c.527T>C (p.Leu176Pro) c.124-10462T>C (n.124-10462T>C) | ClinVar dbSNP |
11 | g.2572973T>G | CA379131748 | KCNQ1 | c.647T>G (p.Leu216Arg) c.478-10462T>G (n.478-10462T>G) c.908T>G (p.Leu303Arg) c.527T>G (p.Leu176Arg) c.124-10462T>G (n.124-10462T>G) | |
11 | g.2572973T= | CA1948212348 | KCNQ1 | c.647T= (p.Leu216=) c.478-10462T= (n.478-10462T=) c.908T= (p.Leu303=) c.527T= (p.Leu176=) c.124-10462T= (n.124-10462T=) | |
11 | g.2572974G>A | CA472038199 | KCNQ1 | c.648G>A (p.Leu216=) c.478-10461G>A (n.478-10461G>A) c.909G>A (p.Leu303=) c.528G>A (p.Leu176=) c.124-10461G>A (n.124-10461G>A) | ClinVar dbSNP |
11 | g.2572974G>C | CA472038200 | KCNQ1 | c.648G>C (p.Leu216=) c.478-10461G>C (n.478-10461G>C) c.909G>C (p.Leu303=) c.528G>C (p.Leu176=) c.124-10461G>C (n.124-10461G>C) | |
11 | g.2572974G= | CA1948212354 | KCNQ1 | c.648G= (p.Leu216=) c.478-10461G= (n.478-10461G=) c.909G= (p.Leu303=) c.528G= (p.Leu176=) c.124-10461G= (n.124-10461G=) | |
11 | g.2572974G>T | CA472038201 | KCNQ1 | c.648G>T (p.Leu216=) c.478-10461G>T (n.478-10461G>T) c.909G>T (p.Leu303=) c.528G>T (p.Leu176=) c.124-10461G>T (n.124-10461G>T) | |
11 | g.2572974dup | CA674975228 | KCNQ1 | c.648dup (p.Trp217ValfsTer?) c.478-10461dup (n.478-10461dup) c.909dup (p.Trp304ValfsTer?) c.528dup (p.Trp177ValfsTer?) c.124-10461dup (n.124-10461dup) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2572974_2572975insGTGGTGGGGGGTGGTAA | CA2825001867 | KCNQ1 | c.648_649insGTGGTGGGGGGTGGTAA (p.Trp217ValfsTer?) c.478-10461_478-10460insGTGGTGGGGGGTGGTAA (n.478-10461_478-10460insGTGGTGGGGGGTGGTAA) c.909_910insGTGGTGGGGGGTGGTAA (p.Trp304ValfsTer?) c.528_529insGTGGTGGGGGGTGGTAA (p.Trp177ValfsTer?) c.124-10461_124-10460insGTGGTGGGGGGTGGTAA (n.124-10461_124-10460insGTGGTGGGGGGTGGTAA) | ClinVar |
11 | g.2572975T>A | CA379131751 | KCNQ1 | c.649T>A (p.Trp217Arg) c.478-10460T>A (n.478-10460T>A) c.910T>A (p.Trp304Arg) c.529T>A (p.Trp177Arg) c.124-10460T>A (n.124-10460T>A) | |
11 | g.2572975T>C | CA008598 | KCNQ1 | c.649T>C (p.Trp217Arg) c.478-10460T>C (n.478-10460T>C) c.910T>C (p.Trp304Arg) c.529T>C (p.Trp177Arg) c.124-10460T>C (n.124-10460T>C) | ClinVar dbSNP |
11 | g.2572975T>G | CA379131753 | KCNQ1 | c.649T>G (p.Trp217Gly) c.478-10460T>G (n.478-10460T>G) c.910T>G (p.Trp304Gly) c.529T>G (p.Trp177Gly) c.124-10460T>G (n.124-10460T>G) | ClinVar |
11 | g.2572975T= | CA1948212374 | KCNQ1 | c.649T= (p.Trp217=) c.478-10460T= (n.478-10460T=) c.910T= (p.Trp304=) c.529T= (p.Trp177=) c.124-10460T= (n.124-10460T=) | |
11 | g.2572976G>A | CA379131756 | KCNQ1 | c.650G>A (p.Trp217Ter) c.478-10459G>A (n.478-10459G>A) c.911G>A (p.Trp304Ter) c.530G>A (p.Trp177Ter) c.124-10459G>A (n.124-10459G>A) | ClinVar |
11 | g.2572976G>C | CA379131758 | KCNQ1 | c.650G>C (p.Trp217Ser) c.478-10459G>C (n.478-10459G>C) c.911G>C (p.Trp304Ser) c.530G>C (p.Trp177Ser) c.124-10459G>C (n.124-10459G>C) | ClinVar dbSNP |
11 | g.2572976G>T | CA379131760 | KCNQ1 | c.650G>T (p.Trp217Leu) c.478-10459G>T (n.478-10459G>T) c.911G>T (p.Trp304Leu) c.530G>T (p.Trp177Leu) c.124-10459G>T (n.124-10459G>T) | ClinVar |
11 | g.2572978_2572981dup | CA2573146076 | KCNQ1 | c.652_655dup (p.Gly219ValfsTer?) c.478-10457_478-10454dup (n.478-10457_478-10454dup) c.913_916dup (p.Gly306ValfsTer?) c.532_535dup (p.Gly179ValfsTer?) c.124-10457_124-10454dup (n.124-10457_124-10454dup) | ClinVar dbSNP |
11 | g.2572977G>A | CA379131762 | KCNQ1 | c.651G>A (p.Trp217Ter) c.478-10458G>A (n.478-10458G>A) c.912G>A (p.Trp304Ter) c.531G>A (p.Trp177Ter) c.124-10458G>A (n.124-10458G>A) | |
11 | g.2572977G>C | CA379131764 | KCNQ1 | c.651G>C (p.Trp217Cys) c.478-10458G>C (n.478-10458G>C) c.912G>C (p.Trp304Cys) c.531G>C (p.Trp177Cys) c.124-10458G>C (n.124-10458G>C) | |
11 | g.2572977G>T | CA379131763 | KCNQ1 | c.651G>T (p.Trp217Cys) c.478-10458G>T (n.478-10458G>T) c.912G>T (p.Trp304Cys) c.531G>T (p.Trp177Cys) c.124-10458G>T (n.124-10458G>T) | |
11 | g.2572978del | CA2612004140 | KCNQ1 | c.652del (p.Trp218GlyfsTer?) c.478-10457del (n.478-10457del) c.913del (p.Trp305GlyfsTer?) c.532del (p.Trp178GlyfsTer?) c.124-10457del (n.124-10457del) | gnomAD v4 |
11 | g.2572978T>A | CA379131765 | KCNQ1 | c.652T>A (p.Trp218Arg) c.478-10457T>A (n.478-10457T>A) c.913T>A (p.Trp305Arg) c.532T>A (p.Trp178Arg) c.124-10457T>A (n.124-10457T>A) | ClinVar |
11 | g.2572978T>C | CA008606 | KCNQ1 | c.652T>C (p.Trp218Arg) c.478-10457T>C (n.478-10457T>C) c.913T>C (p.Trp305Arg) c.532T>C (p.Trp178Arg) c.124-10457T>C (n.124-10457T>C) | ClinVar dbSNP |
11 | g.2572978T>G | CA379131766 | KCNQ1 | c.652T>G (p.Trp218Gly) c.478-10457T>G (n.478-10457T>G) c.913T>G (p.Trp305Gly) c.532T>G (p.Trp178Gly) c.124-10457T>G (n.124-10457T>G) | dbSNP |
11 | g.2572978T= | CA1948212383 | KCNQ1 | c.652T= (p.Trp218=) c.478-10457T= (n.478-10457T=) c.913T= (p.Trp305=) c.532T= (p.Trp178=) c.124-10457T= (n.124-10457T=) | |
11 | g.2572979G>A | CA008615 | KCNQ1 | c.653G>A (p.Trp218Ter) c.478-10456G>A (n.478-10456G>A) c.914G>A (p.Trp305Ter) c.533G>A (p.Trp178Ter) c.124-10456G>A (n.124-10456G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572979G>C | CA008623 | KCNQ1 | c.653G>C (p.Trp218Ser) c.478-10456G>C (n.478-10456G>C) c.914G>C (p.Trp305Ser) c.533G>C (p.Trp178Ser) c.124-10456G>C (n.124-10456G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2572979G= | CA1948212397 | KCNQ1 | c.653G= (p.Trp218=) c.478-10456G= (n.478-10456G=) c.914G= (p.Trp305=) c.533G= (p.Trp178=) c.124-10456G= (n.124-10456G=) | |
11 | g.2572979G>T | CA008627 | KCNQ1 | c.653G>T (p.Trp218Leu) c.478-10456G>T (n.478-10456G>T) c.914G>T (p.Trp305Leu) c.533G>T (p.Trp178Leu) c.124-10456G>T (n.124-10456G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2572984dup | CA2832550970 | KCNQ1 | c.658dup (p.Val220GlyfsTer?) c.478-10451dup (n.478-10451dup) c.919dup (p.Val307GlyfsTer?) c.538dup (p.Val180GlyfsTer?) c.124-10451dup (n.124-10451dup) | |
11 | g.2572984del | CA913188343 | KCNQ1 | c.658del (p.Val220TrpfsTer?) c.478-10451del (n.478-10451del) c.919del (p.Val307TrpfsTer?) c.538del (p.Val180TrpfsTer?) c.124-10451del (n.124-10451del) | ClinVar dbSNP gnomAD v4 |
11 | g.2572983_2572984del | CA2612004141 | KCNQ1 | c.657_658del (p.Val220GlyfsTer?) c.478-10452_478-10451del (n.478-10452_478-10451del) c.918_919del (p.Val307GlyfsTer?) c.537_538del (p.Val180GlyfsTer?) c.124-10452_124-10451del (n.124-10452_124-10451del) | gnomAD v4 |
11 | g.2572980G>A | CA379131772 | KCNQ1 | c.654G>A (p.Trp218Ter) c.478-10455G>A (n.478-10455G>A) c.915G>A (p.Trp305Ter) c.534G>A (p.Trp178Ter) c.124-10455G>A (n.124-10455G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2572980G>C | CA379131774 | KCNQ1 | c.654G>C (p.Trp218Cys) c.478-10455G>C (n.478-10455G>C) c.915G>C (p.Trp305Cys) c.534G>C (p.Trp178Cys) c.124-10455G>C (n.124-10455G>C) | ClinVar |
11 | g.2572980G= | CA1948212419 | KCNQ1 | c.654G= (p.Trp218=) c.478-10455G= (n.478-10455G=) c.915G= (p.Trp305=) c.534G= (p.Trp178=) c.124-10455G= (n.124-10455G=) | |
11 | g.2572980G>T | CA379131775 | KCNQ1 | c.654G>T (p.Trp218Cys) c.478-10455G>T (n.478-10455G>T) c.915G>T (p.Trp305Cys) c.534G>T (p.Trp178Cys) c.124-10455G>T (n.124-10455G>T) | dbSNP |
11 | g.2572981G>A | CA008634 | KCNQ1 | c.655G>A (p.Gly219Arg) c.478-10454G>A (n.478-10454G>A) c.916G>A (p.Gly306Arg) c.535G>A (p.Gly179Arg) c.124-10454G>A (n.124-10454G>A) | ClinVar dbSNP |
11 | g.2572981G>C | CA008640 | KCNQ1 | c.655G>C (p.Gly219Arg) c.478-10454G>C (n.478-10454G>C) c.916G>C (p.Gly306Arg) c.535G>C (p.Gly179Arg) c.124-10454G>C (n.124-10454G>C) | ClinVar dbSNP |
11 | g.2572981G= | CA1948212421 | KCNQ1 | c.655G= (p.Gly219=) c.478-10454G= (n.478-10454G=) c.916G= (p.Gly306=) c.535G= (p.Gly179=) c.124-10454G= (n.124-10454G=) | |
11 | g.2572981G>T | CA379131778 | KCNQ1 | c.655G>T (p.Gly219Trp) c.478-10454G>T (n.478-10454G>T) c.916G>T (p.Gly306Trp) c.535G>T (p.Gly179Trp) c.124-10454G>T (n.124-10454G>T) | |
11 | g.2572981_2572993delinsGGGGTGGTAAGTC | CA1948212429 | KCNQ1 | c.655_660+7delinsGGGGTGGTAAGTC c.478-10454_478-10442delinsGGGGTGGTAAGTC (n.478-10454_478-10442delinsGGGGTGGTAAGTC) c.916_921+7delinsGGGGTGGTAAGTC c.535_540+7delinsGGGGTGGTAAGTC c.124-10454_124-10442delinsGGGGTGGTAAGTC (n.124-10454_124-10442delinsGGGGTGGTAAGTC) | |
11 | g.2572982G>A | CA379131783 | KCNQ1 | c.656G>A (p.Gly219Glu) c.478-10453G>A (n.478-10453G>A) c.917G>A (p.Gly306Glu) c.536G>A (p.Gly179Glu) c.124-10453G>A (n.124-10453G>A) | ClinVar dbSNP |
11 | g.2572982G>C | CA379131785 | KCNQ1 | c.656G>C (p.Gly219Ala) c.478-10453G>C (n.478-10453G>C) c.917G>C (p.Gly306Ala) c.536G>C (p.Gly179Ala) c.124-10453G>C (n.124-10453G>C) | |
11 | g.2572982G= | CA1948212444 | KCNQ1 | c.656G= (p.Gly219=) c.478-10453G= (n.478-10453G=) c.917G= (p.Gly306=) c.536G= (p.Gly179=) c.124-10453G= (n.124-10453G=) | |
11 | g.2572982G>T | CA008647 | KCNQ1 | c.656G>T (p.Gly219Val) c.478-10453G>T (n.478-10453G>T) c.917G>T (p.Gly306Val) c.536G>T (p.Gly179Val) c.124-10453G>T (n.124-10453G>T) | ClinVar dbSNP |
11 | g.2572982_2572985delinsGGGT | CA1948212437 | KCNQ1 | c.656_659delinsGGGT (p.Gly219=) c.478-10453_478-10450delinsGGGT (n.478-10453_478-10450delinsGGGT) c.917_920delinsGGGT (p.Gly306=) c.536_539delinsGGGT (p.Gly179=) c.124-10453_124-10450delinsGGGT (n.124-10453_124-10450delinsGGGT) | |
11 | g.2572984_2572987del | CA2612004150 | KCNQ1 | c.658_660+1del c.478-10451_478-10448del (n.478-10451_478-10448del) c.919_921+1del c.538_540+1del c.124-10451_124-10448del (n.124-10451_124-10448del) | gnomAD v4 |
11 | g.2572984_2572995del | CA305973 | KCNQ1 | c.658_660+9del c.478-10451_478-10440del (n.478-10451_478-10440del) c.919_921+9del c.538_540+9del c.124-10451_124-10440del (n.124-10451_124-10440del) | ClinVar dbSNP gnomAD v4 |
11 | g.2572983G>A | CA472038202 | KCNQ1 | c.657G>A (p.Gly219=) c.478-10452G>A (n.478-10452G>A) c.918G>A (p.Gly306=) c.537G>A (p.Gly179=) c.124-10452G>A (n.124-10452G>A) | ClinVar gnomAD v4 |
11 | g.2572983G>C | CA472038203 | KCNQ1 | c.657G>C (p.Gly219=) c.478-10452G>C (n.478-10452G>C) c.918G>C (p.Gly306=) c.537G>C (p.Gly179=) c.124-10452G>C (n.124-10452G>C) | |
11 | g.2572983G>T | CA472038204 | KCNQ1 | c.657G>T (p.Gly219=) c.478-10452G>T (n.478-10452G>T) c.918G>T (p.Gly306=) c.537G>T (p.Gly179=) c.124-10452G>T (n.124-10452G>T) | |
11 | g.2572986_2572988del | CA326304 | KCNQ1 | c.660_660+2del c.478-10449_478-10447del (n.478-10449_478-10447del) c.921_921+2del c.540_540+2del c.124-10449_124-10447del (n.124-10449_124-10447del) | ClinVar dbSNP |
11 | g.2572984G>A | CA379131791 | KCNQ1 | c.658G>A (p.Val220Met) c.478-10451G>A (n.478-10451G>A) c.919G>A (p.Val307Met) c.538G>A (p.Val180Met) c.124-10451G>A (n.124-10451G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2572984G>C | CA008654 | KCNQ1 | c.658G>C (p.Val220Leu) c.478-10451G>C (n.478-10451G>C) c.919G>C (p.Val307Leu) c.538G>C (p.Val180Leu) c.124-10451G>C (n.124-10451G>C) | ClinVar dbSNP |
11 | g.2572984G= | CA1948212460 | KCNQ1 | c.658G= (p.Val220=) c.478-10451G= (n.478-10451G=) c.919G= (p.Val307=) c.538G= (p.Val180=) c.124-10451G= (n.124-10451G=) | |
11 | g.2572984G>T | CA379131793 | KCNQ1 | c.658G>T (p.Val220Leu) c.478-10451G>T (n.478-10451G>T) c.919G>T (p.Val307Leu) c.538G>T (p.Val180Leu) c.124-10451G>T (n.124-10451G>T) | ClinVar dbSNP |
11 | g.2572985T>A | CA379131796 | KCNQ1 | c.659T>A (p.Val220Glu) c.478-10450T>A (n.478-10450T>A) c.920T>A (p.Val307Glu) c.539T>A (p.Val180Glu) c.124-10450T>A (n.124-10450T>A) | ClinVar dbSNP |
11 | g.2572985T>C | CA379131798 | KCNQ1 | c.659T>C (p.Val220Ala) c.478-10450T>C (n.478-10450T>C) c.920T>C (p.Val307Ala) c.539T>C (p.Val180Ala) c.124-10450T>C (n.124-10450T>C) | |
11 | g.2572985T>G | CA379131800 | KCNQ1 | c.659T>G (p.Val220Gly) c.478-10450T>G (n.478-10450T>G) c.920T>G (p.Val307Gly) c.539T>G (p.Val180Gly) c.124-10450T>G (n.124-10450T>G) | dbSNP |
11 | g.2572985T= | CA1948212474 | KCNQ1 | c.659T= (p.Val220=) c.478-10450T= (n.478-10450T=) c.920T= (p.Val307=) c.539T= (p.Val180=) c.124-10450T= (n.124-10450T=) | |
11 | g.2572986G>A | CA008670 | KCNQ1 | c.660G>A (p.Val220=) c.478-10449G>A (n.478-10449G>A) c.921G>A (p.Val307=) c.540G>A (p.Val180=) c.124-10449G>A (n.124-10449G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2572986G>C | CA472038205 | KCNQ1 | c.660G>C (p.Val220=) c.478-10449G>C (n.478-10449G>C) c.921G>C (p.Val307=) c.540G>C (p.Val180=) c.124-10449G>C (n.124-10449G>C) | |
11 | g.2572986G= | CA1948212480 | KCNQ1 | c.660G= (p.Val220=) c.478-10449G= (n.478-10449G=) c.921G= (p.Val307=) c.540G= (p.Val180=) c.124-10449G= (n.124-10449G=) | |
11 | g.2572986G>T | CA472038206 | KCNQ1 | c.660G>T (p.Val220=) c.478-10449G>T (n.478-10449G>T) c.921G>T (p.Val307=) c.540G>T (p.Val180=) c.124-10449G>T (n.124-10449G>T) | |
11 | g.2572987del | CA658761327 | KCNQ1 | c.660+1del c.478-10448del (n.478-10448del) c.921+1del c.540+1del c.124-10448del (n.124-10448del) | |
11 | g.2572987G>A | CA379131805 | KCNQ1 | c.660+1G>A (n.660+1G>A) c.478-10448G>A (n.478-10448G>A) c.921+1G>A (n.921+1G>A) c.540+1G>A (n.540+1G>A) c.124-10448G>A (n.124-10448G>A) | ClinVar dbSNP |
11 | g.2572987G>C | CA379131803 | KCNQ1 | c.660+1G>C (n.660+1G>C) c.478-10448G>C (n.478-10448G>C) c.921+1G>C (n.921+1G>C) c.540+1G>C (n.540+1G>C) c.124-10448G>C (n.124-10448G>C) | |
11 | g.2572987G= | CA1948212493 | KCNQ1 | c.660+1G= (n.660+1G=) c.478-10448G= (n.478-10448G=) c.921+1G= (n.921+1G=) c.540+1G= (n.540+1G=) c.124-10448G= (n.124-10448G=) | |
11 | g.2572987G>T | CA008659 | KCNQ1 | c.660+1G>T (n.660+1G>T) c.478-10448G>T (n.478-10448G>T) c.921+1G>T (n.921+1G>T) c.540+1G>T (n.540+1G>T) c.124-10448G>T (n.124-10448G>T) | ClinVar dbSNP |
11 | g.2572988del | CA2695213159 | KCNQ1 | c.660+2del (n.660+2del) c.478-10447del (n.478-10447del) c.921+2del (n.921+2del) c.540+2del (n.540+2del) c.124-10447del (n.124-10447del) | |
11 | g.2572988T>A | CA379131809 | KCNQ1 | c.660+2T>A (n.660+2T>A) c.478-10447T>A (n.478-10447T>A) c.921+2T>A (n.921+2T>A) c.540+2T>A (n.540+2T>A) c.124-10447T>A (n.124-10447T>A) | |
11 | g.2572988T>C | CA379131810 | KCNQ1 | c.660+2T>C (n.660+2T>C) c.478-10447T>C (n.478-10447T>C) c.921+2T>C (n.921+2T>C) c.540+2T>C (n.540+2T>C) c.124-10447T>C (n.124-10447T>C) | |
11 | g.2572988T>G | CA379131812 | KCNQ1 | c.660+2T>G (n.660+2T>G) c.478-10447T>G (n.478-10447T>G) c.921+2T>G (n.921+2T>G) c.540+2T>G (n.540+2T>G) c.124-10447T>G (n.124-10447T>G) | dbSNP |
11 | g.2572988T= | CA1948212498 | KCNQ1 | c.660+2T= (n.660+2T=) c.478-10447T= (n.478-10447T=) c.921+2T= (n.921+2T=) c.540+2T= (n.540+2T=) c.124-10447T= (n.124-10447T=) | |
11 | g.2572990A>G | CA2499220869 | KCNQ1 | c.660+4A>G (n.660+4A>G) c.478-10445A>G (n.478-10445A>G) c.921+4A>G (n.921+4A>G) c.540+4A>G (n.540+4A>G) c.124-10445A>G (n.124-10445A>G) | ClinVar dbSNP |
11 | g.2572992T>C | CA2840405429 | KCNQ1 | c.660+6T>C (n.660+6T>C) c.478-10443T>C (n.478-10443T>C) c.921+6T>C (n.921+6T>C) c.540+6T>C (n.540+6T>C) c.124-10443T>C (n.124-10443T>C) | |
11 | g.2572993C= | CA1948212502 | KCNQ1 | c.660+7C= (n.660+7C=) c.478-10442C= (n.478-10442C=) c.921+7C= (n.921+7C=) c.540+7C= (n.540+7C=) c.124-10442C= (n.124-10442C=) | |
11 | g.2572993C>G | CA2612004171 | KCNQ1 | c.660+7C>G (n.660+7C>G) c.478-10442C>G (n.478-10442C>G) c.921+7C>G (n.921+7C>G) c.540+7C>G (n.540+7C>G) c.124-10442C>G (n.124-10442C>G) | gnomAD v4 |
11 | g.2572993C>T | CA041503 | KCNQ1 | c.660+7C>T (n.660+7C>T) c.478-10442C>T (n.478-10442C>T) c.921+7C>T (n.921+7C>T) c.540+7C>T (n.540+7C>T) c.124-10442C>T (n.124-10442C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572994G>A | CA041513 | KCNQ1 | c.660+8G>A (n.660+8G>A) c.478-10441G>A (n.478-10441G>A) c.921+8G>A (n.921+8G>A) c.540+8G>A (n.540+8G>A) c.124-10441G>A (n.124-10441G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572994G= | CA1948212509 | KCNQ1 | c.660+8G= (n.660+8G=) c.478-10441G= (n.478-10441G=) c.921+8G= (n.921+8G=) c.540+8G= (n.540+8G=) c.124-10441G= (n.124-10441G=) | |
11 | g.2572994G>T | CA216312886 | KCNQ1 | c.660+8G>T (n.660+8G>T) c.478-10441G>T (n.478-10441G>T) c.921+8G>T (n.921+8G>T) c.540+8G>T (n.540+8G>T) c.124-10441G>T (n.124-10441G>T) | dbSNP |
11 | g.2572994_2573001dup | CA2580082640 | KCNQ1 | c.660+8_660+15dup (n.660+8_660+15dup) c.478-10441_478-10434dup (n.478-10441_478-10434dup) c.921+8_921+15dup (n.921+8_921+15dup) c.540+8_540+15dup (n.540+8_540+15dup) c.124-10441_124-10434dup (n.124-10441_124-10434dup) | ClinVar |
11 | g.2572995G>T | CA2840405430 | KCNQ1 | c.660+9G>T (n.660+9G>T) c.478-10440G>T (n.478-10440G>T) c.921+9G>T (n.921+9G>T) c.540+9G>T (n.540+9G>T) c.124-10440G>T (n.124-10440G>T) | |
11 | g.2572995_2572996delinsGA | CA1948212518 | KCNQ1 | c.660+9_660+10delinsGA (n.660+9_660+10delinsGA) c.478-10440_478-10439delinsGA (n.478-10440_478-10439delinsGA) c.921+9_921+10delinsGA (n.921+9_921+10delinsGA) c.540+9_540+10delinsGA (n.540+9_540+10delinsGA) c.124-10440_124-10439delinsGA (n.124-10440_124-10439delinsGA) | |
11 | g.2572998del | CA674975287 | KCNQ1 | c.660+12del (n.660+12del) c.478-10437del (n.478-10437del) c.921+12del (n.921+12del) c.540+12del (n.540+12del) c.124-10437del (n.124-10437del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2572997A>G | CA2612004182 | KCNQ1 | c.660+11A>G (n.660+11A>G) c.478-10438A>G (n.478-10438A>G) c.921+11A>G (n.921+11A>G) c.540+11A>G (n.540+11A>G) c.124-10438A>G (n.124-10438A>G) | gnomAD v4 |
11 | g.2572998A= | CA1948212522 | KCNQ1 | c.660+12A= (n.660+12A=) c.478-10437A= (n.478-10437A=) c.921+12A= (n.921+12A=) c.540+12A= (n.540+12A=) c.124-10437A= (n.124-10437A=) | |
11 | g.2572998A>G | CA1139661775 | KCNQ1 | c.660+12A>G (n.660+12A>G) c.478-10437A>G (n.478-10437A>G) c.921+12A>G (n.921+12A>G) c.540+12A>G (n.540+12A>G) c.124-10437A>G (n.124-10437A>G) | ClinVar dbSNP |
11 | g.2572999C= | CA1948212528 | KCNQ1 | c.660+13C= (n.660+13C=) c.478-10436C= (n.478-10436C=) c.921+13C= (n.921+13C=) c.540+13C= (n.540+13C=) c.124-10436C= (n.124-10436C=) | |
11 | g.2572999C>G | CA2840405431 | KCNQ1 | c.660+13C>G (n.660+13C>G) c.478-10436C>G (n.478-10436C>G) c.921+13C>G (n.921+13C>G) c.540+13C>G (n.540+13C>G) c.124-10436C>G (n.124-10436C>G) | |
11 | g.2572999C>T | CA041417 | KCNQ1 | c.660+13C>T (n.660+13C>T) c.478-10436C>T (n.478-10436C>T) c.921+13C>T (n.921+13C>T) c.540+13C>T (n.540+13C>T) c.124-10436C>T (n.124-10436C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2573000T>C | CA2840405432 | KCNQ1 | c.660+14T>C (n.660+14T>C) c.478-10435T>C (n.478-10435T>C) c.921+14T>C (n.921+14T>C) c.540+14T>C (n.540+14T>C) c.124-10435T>C (n.124-10435T>C) | |
11 | g.2573001T>C | CA216312894 | KCNQ1 | c.660+15T>C (n.660+15T>C) c.478-10434T>C (n.478-10434T>C) c.921+15T>C (n.921+15T>C) c.540+15T>C (n.540+15T>C) c.124-10434T>C (n.124-10434T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2573001T= | CA1948212531 | KCNQ1 | c.660+15T= (n.660+15T=) c.478-10434T= (n.478-10434T=) c.921+15T= (n.921+15T=) c.540+15T= (n.540+15T=) c.124-10434T= (n.124-10434T=) | |
11 | g.2573002C= | CA1948212535 | KCNQ1 | c.660+16C= (n.660+16C=) c.478-10433C= (n.478-10433C=) c.921+16C= (n.921+16C=) c.540+16C= (n.540+16C=) c.124-10433C= (n.124-10433C=) | |
11 | g.2573002C>G | CA1948212536 | KCNQ1 | c.660+16C>G (n.660+16C>G) c.478-10433C>G (n.478-10433C>G) c.921+16C>G (n.921+16C>G) c.540+16C>G (n.540+16C>G) c.124-10433C>G (n.124-10433C>G) | dbSNP |
11 | g.2573003C= | CA1948212539 | KCNQ1 | c.660+17C= (n.660+17C=) c.478-10432C= (n.478-10432C=) c.921+17C= (n.921+17C=) c.540+17C= (n.540+17C=) c.124-10432C= (n.124-10432C=) | |
11 | g.2573003C>T | CA041445 | KCNQ1 | c.660+17C>T (n.660+17C>T) c.478-10432C>T (n.478-10432C>T) c.921+17C>T (n.921+17C>T) c.540+17C>T (n.540+17C>T) c.124-10432C>T (n.124-10432C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2573006G= | CA1948212541 | KCNQ1 | c.660+20G= (n.660+20G=) c.478-10429G= (n.478-10429G=) c.921+20G= (n.921+20G=) c.540+20G= (n.540+20G=) c.124-10429G= (n.124-10429G=) | |
11 | g.2573006G>T | CA597432472 | KCNQ1 | c.660+20G>T (n.660+20G>T) c.478-10429G>T (n.478-10429G>T) c.921+20G>T (n.921+20G>T) c.540+20G>T (n.540+20G>T) c.124-10429G>T (n.124-10429G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2573007C= | CA1948212544 | KCNQ1 | c.660+21C= (n.660+21C=) c.478-10428C= (n.478-10428C=) c.921+21C= (n.921+21C=) c.540+21C= (n.540+21C=) c.124-10428C= (n.124-10428C=) | |
11 | g.2573007C>T | CA597432473 | KCNQ1 | c.660+21C>T (n.660+21C>T) c.478-10428C>T (n.478-10428C>T) c.921+21C>T (n.921+21C>T) c.540+21C>T (n.540+21C>T) c.124-10428C>T (n.124-10428C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2573008A= | CA1948212550 | KCNQ1 | c.660+22A= (n.660+22A=) c.478-10427A= (n.478-10427A=) c.921+22A= (n.921+22A=) c.540+22A= (n.540+22A=) c.124-10427A= (n.124-10427A=) | |
11 | g.2573008A>C | CA2612004194 | KCNQ1 | c.660+22A>C (n.660+22A>C) c.478-10427A>C (n.478-10427A>C) c.921+22A>C (n.921+22A>C) c.540+22A>C (n.540+22A>C) c.124-10427A>C (n.124-10427A>C) | gnomAD v4 |
11 | g.2573008A>G | CA1948212552 | KCNQ1 | c.660+22A>G (n.660+22A>G) c.478-10427A>G (n.478-10427A>G) c.921+22A>G (n.921+22A>G) c.540+22A>G (n.540+22A>G) c.124-10427A>G (n.124-10427A>G) | dbSNP gnomAD v4 |
11 | g.2573009T>C | CA2612004195 | KCNQ1 | c.660+23T>C (n.660+23T>C) c.478-10426T>C (n.478-10426T>C) c.921+23T>C (n.921+23T>C) c.540+23T>C (n.540+23T>C) c.124-10426T>C (n.124-10426T>C) | gnomAD v4 |
11 | g.2573009T>G | CA041456 | KCNQ1 | c.660+23T>G (n.660+23T>G) c.478-10426T>G (n.478-10426T>G) c.921+23T>G (n.921+23T>G) c.540+23T>G (n.540+23T>G) c.124-10426T>G (n.124-10426T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2573009T= | CA1948212553 | KCNQ1 | c.660+23T= (n.660+23T=) c.478-10426T= (n.478-10426T=) c.921+23T= (n.921+23T=) c.540+23T= (n.540+23T=) c.124-10426T= (n.124-10426T=) | |
11 | g.2573011G>A | CA2612004198 | KCNQ1 | c.660+25G>A (n.660+25G>A) c.478-10424G>A (n.478-10424G>A) c.921+25G>A (n.921+25G>A) c.540+25G>A (n.540+25G>A) c.124-10424G>A (n.124-10424G>A) | gnomAD v4 |
11 | g.2573011G>T | CA2612004197 | KCNQ1 | c.660+25G>T (n.660+25G>T) c.478-10424G>T (n.478-10424G>T) c.921+25G>T (n.921+25G>T) c.540+25G>T (n.540+25G>T) c.124-10424G>T (n.124-10424G>T) | gnomAD v4 |
11 | g.2573012G= | CA1948212554 | KCNQ1 | c.660+26G= (n.660+26G=) c.478-10423G= (n.478-10423G=) c.921+26G= (n.921+26G=) c.540+26G= (n.540+26G=) c.124-10423G= (n.124-10423G=) | |
11 | g.2573012G>T | CA216312918 | KCNQ1 | c.660+26G>T (n.660+26G>T) c.478-10423G>T (n.478-10423G>T) c.921+26G>T (n.921+26G>T) c.540+26G>T (n.540+26G>T) c.124-10423G>T (n.124-10423G>T) | dbSNP |
11 | g.2573013G= | CA1948212555 | KCNQ1 | c.660+27G= (n.660+27G=) c.478-10422G= (n.478-10422G=) c.921+27G= (n.921+27G=) c.540+27G= (n.540+27G=) c.124-10422G= (n.124-10422G=) | |
11 | g.2573013G>T | CA597432474 | KCNQ1 | c.660+27G>T (n.660+27G>T) c.478-10422G>T (n.478-10422G>T) c.921+27G>T (n.921+27G>T) c.540+27G>T (n.540+27G>T) c.124-10422G>T (n.124-10422G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2573014A= | CA1948212556 | KCNQ1 | c.660+28A= (n.660+28A=) c.478-10421A= (n.478-10421A=) c.921+28A= (n.921+28A=) c.540+28A= (n.540+28A=) c.124-10421A= (n.124-10421A=) | |
11 | g.2573014A>G | CA674975300 | KCNQ1 | c.660+28A>G (n.660+28A>G) c.478-10421A>G (n.478-10421A>G) c.921+28A>G (n.921+28A>G) c.540+28A>G (n.540+28A>G) c.124-10421A>G (n.124-10421A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2573015C>A | CA2612004205 | KCNQ1 | c.660+29C>A (n.660+29C>A) c.478-10420C>A (n.478-10420C>A) c.921+29C>A (n.921+29C>A) c.540+29C>A (n.540+29C>A) c.124-10420C>A (n.124-10420C>A) | gnomAD v4 |
11 | g.2573015C>T | CA2612004202 | KCNQ1 | c.660+29C>T (n.660+29C>T) c.478-10420C>T (n.478-10420C>T) c.921+29C>T (n.921+29C>T) c.540+29C>T (n.540+29C>T) c.124-10420C>T (n.124-10420C>T) | gnomAD v4 |
11 | g.2573015_2573016delinsCA | CA1948212558 | KCNQ1 | c.660+29_660+30delinsCA (n.660+29_660+30delinsCA) c.478-10420_478-10419delinsCA (n.478-10420_478-10419delinsCA) c.921+29_921+30delinsCA (n.921+29_921+30delinsCA) c.540+29_540+30delinsCA (n.540+29_540+30delinsCA) c.124-10420_124-10419delinsCA (n.124-10420_124-10419delinsCA) | |
11 | g.2573015_2573017delinsCAG | CA1948212559 | KCNQ1 | c.660+29_660+31delinsCAG (n.660+29_660+31delinsCAG) c.478-10420_478-10418delinsCAG (n.478-10420_478-10418delinsCAG) c.921+29_921+31delinsCAG (n.921+29_921+31delinsCAG) c.540+29_540+31delinsCAG (n.540+29_540+31delinsCAG) c.124-10420_124-10418delinsCAG (n.124-10420_124-10418delinsCAG) | |
11 | g.2573016del | CA216312925 | KCNQ1 | c.660+30del (n.660+30del) c.478-10419del (n.478-10419del) c.921+30del (n.921+30del) c.540+30del (n.540+30del) c.124-10419del (n.124-10419del) | dbSNP gnomAD v4 |
11 | g.2573016A>G | CA2612004209 | KCNQ1 | c.660+30A>G (n.660+30A>G) c.478-10419A>G (n.478-10419A>G) c.921+30A>G (n.921+30A>G) c.540+30A>G (n.540+30A>G) c.124-10419A>G (n.124-10419A>G) | gnomAD v4 |
11 | g.2573016_2573017del | CA597432475 | KCNQ1 | c.660+30_660+31del (n.660+30_660+31del) c.478-10419_478-10418del (n.478-10419_478-10418del) c.921+30_921+31del (n.921+30_921+31del) c.540+30_540+31del (n.540+30_540+31del) c.124-10419_124-10418del (n.124-10419_124-10418del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2573020del | CA2612004210 | KCNQ1 | c.660+34del (n.660+34del) c.478-10415del (n.478-10415del) c.921+34del (n.921+34del) c.540+34del (n.540+34del) c.124-10415del (n.124-10415del) | gnomAD v4 |
11 | g.2573018G= | CA1948212563 | KCNQ1 | c.660+32G= (n.660+32G=) c.478-10417G= (n.478-10417G=) c.921+32G= (n.921+32G=) c.540+32G= (n.540+32G=) c.124-10417G= (n.124-10417G=) | |
11 | g.2573018G>T | CA934460701 | KCNQ1 | c.660+32G>T (n.660+32G>T) c.478-10417G>T (n.478-10417G>T) c.921+32G>T (n.921+32G>T) c.540+32G>T (n.540+32G>T) c.124-10417G>T (n.124-10417G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2573019G>A | CA2612004211 | KCNQ1 | c.660+33G>A (n.660+33G>A) c.478-10416G>A (n.478-10416G>A) c.921+33G>A (n.921+33G>A) c.540+33G>A (n.540+33G>A) c.124-10416G>A (n.124-10416G>A) | gnomAD v4 |
11 | g.2573020G>A | CA2612004213 | KCNQ1 | c.660+34G>A (n.660+34G>A) c.478-10415G>A (n.478-10415G>A) c.921+34G>A (n.921+34G>A) c.540+34G>A (n.540+34G>A) c.124-10415G>A (n.124-10415G>A) | gnomAD v4 |
11 | g.2573020G>T | CA2612004214 | KCNQ1 | c.660+34G>T (n.660+34G>T) c.478-10415G>T (n.478-10415G>T) c.921+34G>T (n.921+34G>T) c.540+34G>T (n.540+34G>T) c.124-10415G>T (n.124-10415G>T) | gnomAD v4 |
11 | g.2573022_2573023insCCCCACCACCAAACACACCCA | CA2790193860 | KCNQ1 | c.660+36_660+37insCCCCACCACCAAACACACCCA (n.660+36_660+37insCCCCACCACCAAACACACCCA) c.478-10413_478-10412insCCCCACCACCAAACACACCCA (n.478-10413_478-10412insCCCCACCACCAAACACACCCA) c.921+36_921+37insCCCCACCACCAAACACACCCA (n.921+36_921+37insCCCCACCACCAAACACACCCA) c.540+36_540+37insCCCCACCACCAAACACACCCA (n.540+36_540+37insCCCCACCACCAAACACACCCA) c.124-10413_124-10412insCCCCACCACCAAACACACCCA (n.124-10413_124-10412insCCCCACCACCAAACACACCCA) | |
11 | g.2573022A>G | CA2612004215 | KCNQ1 | c.660+36A>G (n.660+36A>G) c.478-10413A>G (n.478-10413A>G) c.921+36A>G (n.921+36A>G) c.540+36A>G (n.540+36A>G) c.124-10413A>G (n.124-10413A>G) | gnomAD v4 |
11 | g.2573023G>A | CA2790193861 | KCNQ1 | c.660+37G>A (n.660+37G>A) c.478-10412G>A (n.478-10412G>A) c.921+37G>A (n.921+37G>A) c.540+37G>A (n.540+37G>A) c.124-10412G>A (n.124-10412G>A) | |
11 | g.2573023G>T | CA2840405433 | KCNQ1 | c.660+37G>T (n.660+37G>T) c.478-10412G>T (n.478-10412G>T) c.921+37G>T (n.921+37G>T) c.540+37G>T (n.540+37G>T) c.124-10412G>T (n.124-10412G>T) | |
11 | g.2573024C= | CA1948212565 | KCNQ1 | c.660+38C= (n.660+38C=) c.478-10411C= (n.478-10411C=) c.921+38C= (n.921+38C=) c.540+38C= (n.540+38C=) c.124-10411C= (n.124-10411C=) | |
11 | g.2573024C>T | CA597432476 | KCNQ1 | c.660+38C>T (n.660+38C>T) c.478-10411C>T (n.478-10411C>T) c.921+38C>T (n.921+38C>T) c.540+38C>T (n.540+38C>T) c.124-10411C>T (n.124-10411C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2573025T>A | CA2790193862 | KCNQ1 | c.660+39T>A (n.660+39T>A) c.478-10410T>A (n.478-10410T>A) c.921+39T>A (n.921+39T>A) c.540+39T>A (n.540+39T>A) c.124-10410T>A (n.124-10410T>A) | |
11 | g.2573025T>C | CA2612004216 | KCNQ1 | c.660+39T>C (n.660+39T>C) c.478-10410T>C (n.478-10410T>C) c.921+39T>C (n.921+39T>C) c.540+39T>C (n.540+39T>C) c.124-10410T>C (n.124-10410T>C) | gnomAD v4 |
11 | g.2573026C= | CA1948212575 | KCNQ1 | c.660+40C= (n.660+40C=) c.478-10409C= (n.478-10409C=) c.921+40C= (n.921+40C=) c.540+40C= (n.540+40C=) c.124-10409C= (n.124-10409C=) | |
11 | g.2573026C>G | CA674975311 | KCNQ1 | c.660+40C>G (n.660+40C>G) c.478-10409C>G (n.478-10409C>G) c.921+40C>G (n.921+40C>G) c.540+40C>G (n.540+40C>G) c.124-10409C>G (n.124-10409C>G) | dbSNP gnomAD v4 |
11 | g.2573026C>T | CA2574728383 | KCNQ1 | c.660+40C>T (n.660+40C>T) c.478-10409C>T (n.478-10409C>T) c.921+40C>T (n.921+40C>T) c.540+40C>T (n.540+40C>T) c.124-10409C>T (n.124-10409C>T) | gnomAD v4 |
11 | g.2573027A>C | CA2574728384 | KCNQ1 | c.660+41A>C (n.660+41A>C) c.478-10408A>C (n.478-10408A>C) c.921+41A>C (n.921+41A>C) c.540+41A>C (n.540+41A>C) c.124-10408A>C (n.124-10408A>C) | gnomAD v4 |
11 | g.2573027A>G | CA2612004218 | KCNQ1 | c.660+41A>G (n.660+41A>G) c.478-10408A>G (n.478-10408A>G) c.921+41A>G (n.921+41A>G) c.540+41A>G (n.540+41A>G) c.124-10408A>G (n.124-10408A>G) | gnomAD v4 |