| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2587566_2587592del | CA2740093574 | KCNQ1 | c.772-4_794del c.589-4_611del c.1129-4_1151del c.748-4_770del c.235-4_257del | ClinVar |
| 11 | g.2587577G>A | CA379134650 | KCNQ1 | c.779G>A (p.Trp260Ter) c.596G>A (p.Trp199Ter) c.1136G>A (p.Trp379Ter) c.755G>A (p.Trp252Ter) c.242G>A (p.Trp81Ter) | COSMIC COSMIC |
| 11 | g.2587577G>C | CA005382 | KCNQ1 | c.779G>C (p.Trp260Ser) c.596G>C (p.Trp199Ser) c.1136G>C (p.Trp379Ser) c.755G>C (p.Trp252Ser) c.242G>C (p.Trp81Ser) | ClinVar dbSNP |
| 11 | g.2587577G= | CA1948233005 | KCNQ1 | c.779G= (p.Trp260=) c.596G= (p.Trp199=) c.1136G= (p.Trp379=) c.755G= (p.Trp252=) c.242G= (p.Trp81=) | |
| 11 | g.2587577G>T | CA379134652 | KCNQ1 | c.779G>T (p.Trp260Leu) c.596G>T (p.Trp199Leu) c.1136G>T (p.Trp379Leu) c.755G>T (p.Trp252Leu) c.242G>T (p.Trp81Leu) | |
| 11 | g.2587578G>A | CA216332635 | KCNQ1 | c.780G>A (p.Trp260Ter) c.597G>A (p.Trp199Ter) c.1137G>A (p.Trp379Ter) c.756G>A (p.Trp252Ter) c.243G>A (p.Trp81Ter) | dbSNP gnomAD v4 |
| 11 | g.2587578G>C | CA379134653 | KCNQ1 | c.780G>C (p.Trp260Cys) c.597G>C (p.Trp199Cys) c.1137G>C (p.Trp379Cys) c.756G>C (p.Trp252Cys) c.243G>C (p.Trp81Cys) | |
| 11 | g.2587578G= | CA1948233011 | KCNQ1 | c.780G= (p.Trp260=) c.597G= (p.Trp199=) c.1137G= (p.Trp379=) c.756G= (p.Trp252=) c.243G= (p.Trp81=) | |
| 11 | g.2587578G>T | CA379134654 | KCNQ1 | c.780G>T (p.Trp260Cys) c.597G>T (p.Trp199Cys) c.1137G>T (p.Trp379Cys) c.756G>T (p.Trp252Cys) c.243G>T (p.Trp81Cys) | |
| 11 | g.2587579A= | CA1948233022 | KCNQ1 | c.781A= (p.Arg261=) c.598A= (p.Arg200=) c.1138A= (p.Arg380=) c.757A= (p.Arg253=) c.244A= (p.Arg82=) | |
| 11 | g.2587579A>C | CA472039021 | KCNQ1 | c.781A>C (p.Arg261=) c.598A>C (p.Arg200=) c.1138A>C (p.Arg380=) c.757A>C (p.Arg253=) c.244A>C (p.Arg82=) | |
| 11 | g.2587579A>G | CA005387 | KCNQ1 | c.781A>G (p.Arg261Gly) c.598A>G (p.Arg200Gly) c.1138A>G (p.Arg380Gly) c.757A>G (p.Arg253Gly) c.244A>G (p.Arg82Gly) | ClinVar dbSNP |
| 11 | g.2587579A>T | CA379134655 | KCNQ1 | c.781A>T (p.Arg261Trp) c.598A>T (p.Arg200Trp) c.1138A>T (p.Arg380Trp) c.757A>T (p.Arg253Trp) c.244A>T (p.Arg82Trp) | ClinVar dbSNP |
| 11 | g.2587580G>A | CA379134656 | KCNQ1 | c.782G>A (p.Arg261Lys) c.599G>A (p.Arg200Lys) c.1139G>A (p.Arg380Lys) c.758G>A (p.Arg253Lys) c.245G>A (p.Arg82Lys) | ClinVar dbSNP |
| 11 | g.2587580G>C | CA379134657 | KCNQ1 | c.782G>C (p.Arg261Thr) c.599G>C (p.Arg200Thr) c.1139G>C (p.Arg380Thr) c.758G>C (p.Arg253Thr) c.245G>C (p.Arg82Thr) | |
| 11 | g.2587580G= | CA1948233033 | KCNQ1 | c.782G= (p.Arg261=) c.599G= (p.Arg200=) c.1139G= (p.Arg380=) c.758G= (p.Arg253=) c.245G= (p.Arg82=) | |
| 11 | g.2587580G>T | CA379134658 | KCNQ1 | c.782G>T (p.Arg261Met) c.599G>T (p.Arg200Met) c.1139G>T (p.Arg380Met) c.758G>T (p.Arg253Met) c.245G>T (p.Arg82Met) | |
| 11 | g.2587581G>A | CA10587113 | KCNQ1 | c.783G>A (p.Arg261=) c.600G>A (p.Arg200=) c.1140G>A (p.Arg380=) c.759G>A (p.Arg253=) c.246G>A (p.Arg82=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.2587581G>C | CA379134659 | KCNQ1 | c.783G>C (p.Arg261Ser) c.600G>C (p.Arg200Ser) c.1140G>C (p.Arg380Ser) c.759G>C (p.Arg253Ser) c.246G>C (p.Arg82Ser) | |
| 11 | g.2587581G= | CA1948233040 | KCNQ1 | c.783G= (p.Arg261=) c.600G= (p.Arg200=) c.1140G= (p.Arg380=) c.759G= (p.Arg253=) c.246G= (p.Arg82=) | |
| 11 | g.2587581G>T | CA005394 | KCNQ1 | c.783G>T (p.Arg261Ser) c.600G>T (p.Arg200Ser) c.1140G>T (p.Arg380Ser) c.759G>T (p.Arg253Ser) c.246G>T (p.Arg82Ser) | ClinVar dbSNP |
| 11 | g.2587582T>A | CA379134662 | KCNQ1 | c.784T>A (p.Cys262Ser) c.601T>A (p.Cys201Ser) c.1141T>A (p.Cys381Ser) c.760T>A (p.Cys254Ser) c.247T>A (p.Cys83Ser) | |
| 11 | g.2587582T>C | CA379134660 | KCNQ1 | c.784T>C (p.Cys262Arg) c.601T>C (p.Cys201Arg) c.1141T>C (p.Cys381Arg) c.760T>C (p.Cys254Arg) c.247T>C (p.Cys83Arg) | |
| 11 | g.2587582T>G | CA379134661 | KCNQ1 | c.784T>G (p.Cys262Gly) c.601T>G (p.Cys201Gly) c.1141T>G (p.Cys381Gly) c.760T>G (p.Cys254Gly) c.247T>G (p.Cys83Gly) | |
| 11 | g.2587583G>A | CA005402 | KCNQ1 | c.785G>A (p.Cys262Tyr) c.602G>A (p.Cys201Tyr) c.1142G>A (p.Cys381Tyr) c.761G>A (p.Cys254Tyr) c.248G>A (p.Cys83Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2587583G>C | CA379134663 | KCNQ1 | c.785G>C (p.Cys262Ser) c.602G>C (p.Cys201Ser) c.1142G>C (p.Cys381Ser) c.761G>C (p.Cys254Ser) c.248G>C (p.Cys83Ser) | |
| 11 | g.2587583G= | CA1948233052 | KCNQ1 | c.785G= (p.Cys262=) c.602G= (p.Cys201=) c.1142G= (p.Cys381=) c.761G= (p.Cys254=) c.248G= (p.Cys83=) | |
| 11 | g.2587583G>T | CA379134664 | KCNQ1 | c.785G>T (p.Cys262Phe) c.602G>T (p.Cys201Phe) c.1142G>T (p.Cys381Phe) c.761G>T (p.Cys254Phe) c.248G>T (p.Cys83Phe) | gnomAD v4 |
| 11 | g.2587584C>A | CA379134665 | KCNQ1 | c.786C>A (p.Cys262Ter) c.603C>A (p.Cys201Ter) c.1143C>A (p.Cys381Ter) c.762C>A (p.Cys254Ter) c.249C>A (p.Cys83Ter) | |
| 11 | g.2587584C= | CA1948233059 | KCNQ1 | c.786C= (p.Cys262=) c.603C= (p.Cys201=) c.1143C= (p.Cys381=) c.762C= (p.Cys254=) c.249C= (p.Cys83=) | |
| 11 | g.2587584C>G | CA379134666 | KCNQ1 | c.786C>G (p.Cys262Trp) c.603C>G (p.Cys201Trp) c.1143C>G (p.Cys381Trp) c.762C>G (p.Cys254Trp) c.249C>G (p.Cys83Trp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2587584C>T | CA472039031 | KCNQ1 | c.786C>T (p.Cys262=) c.603C>T (p.Cys201=) c.1143C>T (p.Cys381=) c.762C>T (p.Cys254=) c.249C>T (p.Cys83=) | |
| 11 | g.2587585T>A | CA379134667 | KCNQ1 | c.787T>A (p.Tyr263Asn) c.604T>A (p.Tyr202Asn) c.1144T>A (p.Tyr382Asn) c.763T>A (p.Tyr255Asn) c.250T>A (p.Tyr84Asn) | |
| 11 | g.2587585T>C | CA379134669 | KCNQ1 | c.787T>C (p.Tyr263His) c.604T>C (p.Tyr202His) c.1144T>C (p.Tyr382His) c.763T>C (p.Tyr255His) c.250T>C (p.Tyr84His) | gnomAD v4 |
| 11 | g.2587585T>G | CA379134668 | KCNQ1 | c.787T>G (p.Tyr263Asp) c.604T>G (p.Tyr202Asp) c.1144T>G (p.Tyr382Asp) c.763T>G (p.Tyr255Asp) c.250T>G (p.Tyr84Asp) | |
| 11 | g.2587586A>C | CA379134670 | KCNQ1 | c.788A>C (p.Tyr263Ser) c.605A>C (p.Tyr202Ser) c.1145A>C (p.Tyr382Ser) c.764A>C (p.Tyr255Ser) c.251A>C (p.Tyr84Ser) | |
| 11 | g.2587586A>G | CA379134671 | KCNQ1 | c.788A>G (p.Tyr263Cys) c.605A>G (p.Tyr202Cys) c.1145A>G (p.Tyr382Cys) c.764A>G (p.Tyr255Cys) c.251A>G (p.Tyr84Cys) | |
| 11 | g.2587586A>T | CA379134672 | KCNQ1 | c.788A>T (p.Tyr263Phe) c.605A>T (p.Tyr202Phe) c.1145A>T (p.Tyr382Phe) c.764A>T (p.Tyr255Phe) c.251A>T (p.Tyr84Phe) | |
| 11 | g.2587587T>A | CA379134673 | KCNQ1 | c.789T>A (p.Tyr263Ter) c.606T>A (p.Tyr202Ter) c.1146T>A (p.Tyr382Ter) c.765T>A (p.Tyr255Ter) c.252T>A (p.Tyr84Ter) | |
| 11 | g.2587587T>C | CA472039037 | KCNQ1 | c.789T>C (p.Tyr263=) c.606T>C (p.Tyr202=) c.1146T>C (p.Tyr382=) c.765T>C (p.Tyr255=) c.252T>C (p.Tyr84=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2587587T>G | CA379134674 | KCNQ1 | c.789T>G (p.Tyr263Ter) c.606T>G (p.Tyr202Ter) c.1146T>G (p.Tyr382Ter) c.765T>G (p.Tyr255Ter) c.252T>G (p.Tyr84Ter) | |
| 11 | g.2587588G>A | CA379134675 | KCNQ1 | c.790G>A (p.Ala264Thr) c.607G>A (p.Ala203Thr) c.1147G>A (p.Ala383Thr) c.766G>A (p.Ala256Thr) c.253G>A (p.Ala85Thr) | |
| 11 | g.2587588G>C | CA379134676 | KCNQ1 | c.790G>C (p.Ala264Pro) c.607G>C (p.Ala203Pro) c.1147G>C (p.Ala383Pro) c.766G>C (p.Ala256Pro) c.253G>C (p.Ala85Pro) | |
| 11 | g.2587588G>T | CA379134677 | KCNQ1 | c.790G>T (p.Ala264Ser) c.607G>T (p.Ala203Ser) c.1147G>T (p.Ala383Ser) c.766G>T (p.Ala256Ser) c.253G>T (p.Ala85Ser) | |
| 11 | g.2587589C>A | CA379134678 | KCNQ1 | c.791C>A (p.Ala264Asp) c.608C>A (p.Ala203Asp) c.1148C>A (p.Ala383Asp) c.767C>A (p.Ala256Asp) c.254C>A (p.Ala85Asp) | |
| 11 | g.2587589C= | CA1948233067 | KCNQ1 | c.791C= (p.Ala264=) c.608C= (p.Ala203=) c.1148C= (p.Ala383=) c.767C= (p.Ala256=) c.254C= (p.Ala85=) | |
| 11 | g.2587589C>G | CA379134679 | KCNQ1 | c.791C>G (p.Ala264Gly) c.608C>G (p.Ala203Gly) c.1148C>G (p.Ala383Gly) c.767C>G (p.Ala256Gly) c.254C>G (p.Ala85Gly) | |
| 11 | g.2587589C>T | CA379134680 | KCNQ1 | c.791C>T (p.Ala264Val) c.608C>T (p.Ala203Val) c.1148C>T (p.Ala383Val) c.767C>T (p.Ala256Val) c.254C>T (p.Ala85Val) | |
| 11 | g.2587589dup | CA2573146068 | KCNQ1 | c.791dup (p.Ala265CysfsTer?) c.608dup (p.Ala204CysfsTer?) c.1148dup (p.Ala384CysfsTer?) c.767dup (p.Ala257CysfsTer?) c.254dup (p.Ala86CysfsTer?) | ClinVar dbSNP |
| 11 | g.2587590T>A | CA472039044 | KCNQ1 | c.792T>A (p.Ala264=) c.609T>A (p.Ala203=) c.1149T>A (p.Ala383=) c.768T>A (p.Ala256=) c.255T>A (p.Ala85=) |