| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572087_2572096delinsCCGTGGTCTT | CA1948242733 | KCNQ1 | c.497_506delinsCCGTGGTCTT (p.Ser166=) c.478-11348_478-11339delinsCCGTGGTCTT (n.478-11348_478-11339delinsCCGTGGTCTT) c.758_767delinsCCGTGGTCTT (p.Ser253=) c.377_386delinsCCGTGGTCTT (p.Ser126=) c.124-11348_124-11339delinsCCGTGGTCTT (n.124-11348_124-11339delinsCCGTGGTCTT) | |
| 11 | g.2572089_2572097del | CA008107 | KCNQ1 | c.499_507del (p.Val167_Phe169del) c.478-11346_478-11338del (n.478-11346_478-11338del) c.760_768del (p.Val254_Phe256del) c.379_387del (p.Val127_Phe129del) c.124-11346_124-11338del (n.124-11346_124-11338del) | ClinVar dbSNP |
| 11 | g.2572089G>A | CA008122 | KCNQ1 | c.499G>A (p.Val167Met) c.478-11346G>A (n.478-11346G>A) c.760G>A (p.Val254Met) c.379G>A (p.Val127Met) c.124-11346G>A (n.124-11346G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.[2572089G>A;2587690G>A] | CA085191 | KCNQ1 | c.[499G>A;892G>A] (p.[Val167Met;Val298Met]) c.[478-11346G>A;709G>A] (p.Val237Met) c.[760G>A;1249G>A] (p.[Val254Met;Val417Met]) c.[379G>A;868G>A] (p.[Val127Met;Val290Met]) c.[124-11346G>A;355G>A] (p.Val119Met) | ClinVar |
| 11 | g.2572089G>C | CA008134 | KCNQ1 | c.499G>C (p.Val167Leu) c.478-11346G>C (n.478-11346G>C) c.760G>C (p.Val254Leu) c.379G>C (p.Val127Leu) c.124-11346G>C (n.124-11346G>C) | ClinVar dbSNP |
| 11 | g.2572089G= | CA1948242736 | KCNQ1 | c.499G= (p.Val167=) c.478-11346G= (n.478-11346G=) c.760G= (p.Val254=) c.379G= (p.Val127=) c.124-11346G= (n.124-11346G=) | |
| 11 | g.2572089G>T | CA008142 | KCNQ1 | c.499G>T (p.Val167Leu) c.478-11346G>T (n.478-11346G>T) c.760G>T (p.Val254Leu) c.379G>T (p.Val127Leu) c.124-11346G>T (n.124-11346G>T) | ClinVar dbSNP |
| 11 | g.2572090T>A | CA379131039 | KCNQ1 | c.500T>A (p.Val167Glu) c.478-11345T>A (n.478-11345T>A) c.761T>A (p.Val254Glu) c.380T>A (p.Val127Glu) c.124-11345T>A (n.124-11345T>A) | |
| 11 | g.2572090T>C | CA379131041 | KCNQ1 | c.500T>C (p.Val167Ala) c.478-11345T>C (n.478-11345T>C) c.761T>C (p.Val254Ala) c.380T>C (p.Val127Ala) c.124-11345T>C (n.124-11345T>C) | gnomAD v4 |
| 11 | g.2572090T>G | CA379131043 | KCNQ1 | c.500T>G (p.Val167Gly) c.478-11345T>G (n.478-11345T>G) c.761T>G (p.Val254Gly) c.380T>G (p.Val127Gly) c.124-11345T>G (n.124-11345T>G) | |
| 11 | g.2572091G>A | CA472038092 | KCNQ1 | c.501G>A (p.Val167=) c.478-11344G>A (n.478-11344G>A) c.762G>A (p.Val254=) c.381G>A (p.Val127=) c.124-11344G>A (n.124-11344G>A) | |
| 11 | g.2572091G>C | CA472038093 | KCNQ1 | c.501G>C (p.Val167=) c.478-11344G>C (n.478-11344G>C) c.762G>C (p.Val254=) c.381G>C (p.Val127=) c.124-11344G>C (n.124-11344G>C) | |
| 11 | g.2572091G>T | CA472038094 | KCNQ1 | c.501G>T (p.Val167=) c.478-11344G>T (n.478-11344G>T) c.762G>T (p.Val254=) c.381G>T (p.Val127=) c.124-11344G>T (n.124-11344G>T) | |
| 11 | g.2572092G>A | CA379131045 | KCNQ1 | c.502G>A (p.Val168Ile) c.478-11343G>A (n.478-11343G>A) c.763G>A (p.Val255Ile) c.382G>A (p.Val128Ile) c.124-11343G>A (n.124-11343G>A) | gnomAD v4 |
| 11 | g.2572092G>C | CA379131047 | KCNQ1 | c.502G>C (p.Val168Leu) c.478-11343G>C (n.478-11343G>C) c.763G>C (p.Val255Leu) c.382G>C (p.Val128Leu) c.124-11343G>C (n.124-11343G>C) | |
| 11 | g.2572092G>T | CA379131049 | KCNQ1 | c.502G>T (p.Val168Phe) c.478-11343G>T (n.478-11343G>T) c.763G>T (p.Val255Phe) c.382G>T (p.Val128Phe) c.124-11343G>T (n.124-11343G>T) | |
| 11 | g.2572093T>A | CA379131051 | KCNQ1 | c.503T>A (p.Val168Asp) c.478-11342T>A (n.478-11342T>A) c.764T>A (p.Val255Asp) c.383T>A (p.Val128Asp) c.124-11342T>A (n.124-11342T>A) | |
| 11 | g.2572093T>C | CA379131053 | KCNQ1 | c.503T>C (p.Val168Ala) c.478-11342T>C (n.478-11342T>C) c.764T>C (p.Val255Ala) c.383T>C (p.Val128Ala) c.124-11342T>C (n.124-11342T>C) | |
| 11 | g.2572093T>G | CA379131054 | KCNQ1 | c.503T>G (p.Val168Gly) c.478-11342T>G (n.478-11342T>G) c.764T>G (p.Val255Gly) c.383T>G (p.Val128Gly) c.124-11342T>G (n.124-11342T>G) | |
| 11 | g.2572094C>A | CA040298 | KCNQ1 | c.504C>A (p.Val168=) c.478-11341C>A (n.478-11341C>A) c.765C>A (p.Val255=) c.384C>A (p.Val128=) c.124-11341C>A (n.124-11341C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2572094C= | CA1948242737 | KCNQ1 | c.504C= (p.Val168=) c.478-11341C= (n.478-11341C=) c.765C= (p.Val255=) c.384C= (p.Val128=) c.124-11341C= (n.124-11341C=) | |
| 11 | g.2572094C>G | CA472038096 | KCNQ1 | c.504C>G (p.Val168=) c.478-11341C>G (n.478-11341C>G) c.765C>G (p.Val255=) c.384C>G (p.Val128=) c.124-11341C>G (n.124-11341C>G) | |
| 11 | g.2572094C>T | CA472038097 | KCNQ1 | c.504C>T (p.Val168=) c.478-11341C>T (n.478-11341C>T) c.765C>T (p.Val255=) c.384C>T (p.Val128=) c.124-11341C>T (n.124-11341C>T) | |
| 11 | g.2572095T>A | CA379131061 | KCNQ1 | c.505T>A (p.Phe169Ile) c.478-11340T>A (n.478-11340T>A) c.766T>A (p.Phe256Ile) c.385T>A (p.Phe129Ile) c.124-11340T>A (n.124-11340T>A) | |
| 11 | g.2572095T>C | CA379131057 | KCNQ1 | c.505T>C (p.Phe169Leu) c.478-11340T>C (n.478-11340T>C) c.766T>C (p.Phe256Leu) c.385T>C (p.Phe129Leu) c.124-11340T>C (n.124-11340T>C) | |
| 11 | g.2572095T>G | CA379131059 | KCNQ1 | c.505T>G (p.Phe169Val) c.478-11340T>G (n.478-11340T>G) c.766T>G (p.Phe256Val) c.385T>G (p.Phe129Val) c.124-11340T>G (n.124-11340T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2572096T>A | CA379131063 | KCNQ1 | c.506T>A (p.Phe169Tyr) c.478-11339T>A (n.478-11339T>A) c.767T>A (p.Phe256Tyr) c.386T>A (p.Phe129Tyr) c.124-11339T>A (n.124-11339T>A) | |
| 11 | g.2572096T>C | CA379131065 | KCNQ1 | c.506T>C (p.Phe169Ser) c.478-11339T>C (n.478-11339T>C) c.767T>C (p.Phe256Ser) c.386T>C (p.Phe129Ser) c.124-11339T>C (n.124-11339T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2572096T>G | CA379131067 | KCNQ1 | c.506T>G (p.Phe169Cys) c.478-11339T>G (n.478-11339T>G) c.767T>G (p.Phe256Cys) c.386T>G (p.Phe129Cys) c.124-11339T>G (n.124-11339T>G) | |
| 11 | g.2572096T= | CA1948242738 | KCNQ1 | c.506T= (p.Phe169=) c.478-11339T= (n.478-11339T=) c.767T= (p.Phe256=) c.386T= (p.Phe129=) c.124-11339T= (n.124-11339T=) | |
| 11 | g.2572097C>A | CA379131070 | KCNQ1 | c.507C>A (p.Phe169Leu) c.478-11338C>A (n.478-11338C>A) c.768C>A (p.Phe256Leu) c.387C>A (p.Phe129Leu) c.124-11338C>A (n.124-11338C>A) | dbSNP |
| 11 | g.2572097C= | CA1948242739 | KCNQ1 | c.507C= (p.Phe169=) c.478-11338C= (n.478-11338C=) c.768C= (p.Phe256=) c.387C= (p.Phe129=) c.124-11338C= (n.124-11338C=) | |
| 11 | g.2572097C>G | CA379131072 | KCNQ1 | c.507C>G (p.Phe169Leu) c.478-11338C>G (n.478-11338C>G) c.768C>G (p.Phe256Leu) c.387C>G (p.Phe129Leu) c.124-11338C>G (n.124-11338C>G) | |
| 11 | g.2572097C>T | CA472038098 | KCNQ1 | c.507C>T (p.Phe169=) c.478-11338C>T (n.478-11338C>T) c.768C>T (p.Phe256=) c.387C>T (p.Phe129=) c.124-11338C>T (n.124-11338C>T) | |
| 11 | g.2572099_2572102del | CA2573146073 | KCNQ1 | c.509_512del (p.Ile170ThrfsTer5) c.478-11336_478-11333del (n.478-11336_478-11333del) c.770_773del (p.Ile257ThrfsTer5) c.389_392del (p.Ile130ThrfsTer5) c.124-11336_124-11333del (n.124-11336_124-11333del) | ClinVar dbSNP |
| 11 | g.2572098A= | CA1948242740 | KCNQ1 | c.508A= (p.Ile170=) c.478-11337A= (n.478-11337A=) c.769A= (p.Ile257=) c.388A= (p.Ile130=) c.124-11337A= (n.124-11337A=) | |
| 11 | g.2572098A>C | CA379131074 | KCNQ1 | c.508A>C (p.Ile170Leu) c.478-11337A>C (n.478-11337A>C) c.769A>C (p.Ile257Leu) c.388A>C (p.Ile130Leu) c.124-11337A>C (n.124-11337A>C) | |
| 11 | g.2572098A>G | CA379131076 | KCNQ1 | c.508A>G (p.Ile170Val) c.478-11337A>G (n.478-11337A>G) c.769A>G (p.Ile257Val) c.388A>G (p.Ile130Val) c.124-11337A>G (n.124-11337A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572098A>T | CA379131079 | KCNQ1 | c.508A>T (p.Ile170Phe) c.478-11337A>T (n.478-11337A>T) c.769A>T (p.Ile257Phe) c.388A>T (p.Ile130Phe) c.124-11337A>T (n.124-11337A>T) | |
| 11 | g.2572099T>A | CA379131081 | KCNQ1 | c.509T>A (p.Ile170Asn) c.478-11336T>A (n.478-11336T>A) c.770T>A (p.Ile257Asn) c.389T>A (p.Ile130Asn) c.124-11336T>A (n.124-11336T>A) | |
| 11 | g.2572099T>C | CA379131084 | KCNQ1 | c.509T>C (p.Ile170Thr) c.478-11336T>C (n.478-11336T>C) c.770T>C (p.Ile257Thr) c.389T>C (p.Ile130Thr) c.124-11336T>C (n.124-11336T>C) | |
| 11 | g.2572099T>G | CA379131083 | KCNQ1 | c.509T>G (p.Ile170Ser) c.478-11336T>G (n.478-11336T>G) c.770T>G (p.Ile257Ser) c.389T>G (p.Ile130Ser) c.124-11336T>G (n.124-11336T>G) | ClinVar dbSNP |
| 11 | g.2572100C>A | CA472038099 | KCNQ1 | c.510C>A (p.Ile170=) c.478-11335C>A (n.478-11335C>A) c.771C>A (p.Ile257=) c.390C>A (p.Ile130=) c.124-11335C>A (n.124-11335C>A) | |
| 11 | g.2572100C= | CA1948242741 | KCNQ1 | c.510C= (p.Ile170=) c.478-11335C= (n.478-11335C=) c.771C= (p.Ile257=) c.390C= (p.Ile130=) c.124-11335C= (n.124-11335C=) | |
| 11 | g.2572100C>G | CA379131086 | KCNQ1 | c.510C>G (p.Ile170Met) c.478-11335C>G (n.478-11335C>G) c.771C>G (p.Ile257Met) c.390C>G (p.Ile130Met) c.124-11335C>G (n.124-11335C>G) | |
| 11 | g.2572100C>T | CA472038100 | KCNQ1 | c.510C>T (p.Ile170=) c.478-11335C>T (n.478-11335C>T) c.771C>T (p.Ile257=) c.390C>T (p.Ile130=) c.124-11335C>T (n.124-11335C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572100_2572104dup | CA2573146074 | KCNQ1 | c.510_514dup (p.Arg172ProfsTer6) c.478-11335_478-11331dup (n.478-11335_478-11331dup) c.771_775dup (p.Arg259ProfsTer6) c.390_394dup (p.Arg132ProfsTer6) c.124-11335_124-11331dup (n.124-11335_124-11331dup) | ClinVar dbSNP |
| 11 | g.2572101C>A | CA008150 | KCNQ1 | c.511C>A (p.His171Asn) c.478-11334C>A (n.478-11334C>A) c.772C>A (p.His258Asn) c.391C>A (p.His131Asn) c.124-11334C>A (n.124-11334C>A) | ClinVar dbSNP |
| 11 | g.2572101C= | CA1948242742 | KCNQ1 | c.511C= (p.His171=) c.478-11334C= (n.478-11334C=) c.772C= (p.His258=) c.391C= (p.His131=) c.124-11334C= (n.124-11334C=) | |
| 11 | g.2572101C>G | CA379131088 | KCNQ1 | c.511C>G (p.His171Asp) c.478-11334C>G (n.478-11334C>G) c.772C>G (p.His258Asp) c.391C>G (p.His131Asp) c.124-11334C>G (n.124-11334C>G) |