11 | g.2444540_2444622del | CA2611998992 | | | gnomAD v4 |
11 | g.2444550_2444662del | CA2611999006 | | | gnomAD v4 |
11 | g.2444563_2444615del | CA934454056 | | | gnomAD v3 gnomAD v4 |
11 | g.2444566_2444678del | CA934454057 | | | gnomAD v3 gnomAD v4 |
11 | g.2444566_2444618del | CA934454079 | | | gnomAD v3 gnomAD v4 |
11 | g.2444573_2444656del | CA2611999030 | | | gnomAD v4 |
11 | g.2444569_2444681del | CA2611999034 | | | gnomAD v4 |
11 | g.2444573_2444818del | CA2790193558 | | | |
11 | g.2444587_2444615del | CA934454117 | | | gnomAD v3 gnomAD v4 |
11 | g.2444590_2444678del | CA934454115 | | | gnomAD v3 gnomAD v4 |
11 | g.2444584_2444622del | CA2611999042 | | | gnomAD v4 |
11 | g.2444578_2444637del | CA2611999043 | | | gnomAD v4 |
11 | g.2444578_2444638delinsGCGGGGCCAAGCAGGTGGGCGGGGAGGGGGCGGGGCCAGGCGGGGTAAATGCACACTGGAA | CA1948159666 | | | |
11 | g.2444588_2444647del | CA597098404 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444599_2444658del | CA934454144 | | | gnomAD v3 gnomAD v4 |
11 | g.2444614_2444615insCGGCGGGGGAAGTGCACACTGGAACGGGGCCCAAGCGGTGGGCGGGGAGGGGGCGGGGCC | CA2790193573 | | | |
11 | g.2444593_2444681del | CA934454152 | | | gnomAD v3 gnomAD v4 |
11 | g.2444598_2444613del | CA2611999049 | | | gnomAD v4 |
11 | g.2444599_2444659delinsGGGAGGGGGCGGGGCCAGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGA | CA1948159704 | | | |
11 | g.2444616_2444675del | CA934454187 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444607dup | CA674857413 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444607del | CA597098415 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444607G>A | CA2611999058 | | | gnomAD v4 |
11 | g.2444607G>T | CA2611999059 | | | gnomAD v4 |
11 | g.2444608C= | CA1948159720 | | | |
11 | g.2444608C>G | CA216292256 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444609G>T | CA2790193584 | | | |
11 | g.2444610G>A | CA2611999060 | | | gnomAD v4 |
11 | g.2444611G>A | CA1948159723 | | | dbSNP |
11 | g.2444611G= | CA1948159722 | | | |
11 | g.2444611G>T | CA2611999062 | | | gnomAD v4 |
11 | g.2444612G>A | CA2611999063 | | | gnomAD v4 |
11 | g.2444613C>A | CA934454204 | | | gnomAD v3 gnomAD v4 |
11 | g.2444623_2444754del | CA934454210 | | | gnomAD v3 gnomAD v4 |
11 | g.2444615A>C | CA2790193586 | | | |
11 | g.2444615_2444616delinsAG | CA1948159725 | | | |
11 | g.2444616G>A | CA674857420 | | | dbSNP gnomAD v4 |
11 | g.2444616G= | CA1948159730 | | | |
11 | g.2444617del | CA1948159728 | | | dbSNP |
11 | g.2444616_2444676delinsGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGAGGAGGGGGCGGGGCCAA | CA1948159729 | | | |
11 | g.2444616_2444617insCC | CA674857423 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444617G>A | CA597098417 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444617G= | CA1948159737 | | | |
11 | g.2444622_2444681del | CA597098418 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444618C>A | CA674857427 | | | dbSNP gnomAD v4 |
11 | g.2444618C= | CA1948159740 | | | |
11 | g.2444618C>G | CA934454230 | | | gnomAD v3 gnomAD v4 |
11 | g.2444619G>C | CA674857437 | | | dbSNP |
11 | g.2444619G= | CA1948159743 | | | |
11 | g.2444619G>T | CA1948159745 | | | dbSNP gnomAD v4 |
11 | g.2444620G>A | CA2611999071 | | | gnomAD v4 |
11 | g.2444620G>C | CA674857439 | | | dbSNP |
11 | g.2444620G= | CA1948159747 | | | |
11 | g.2444620G>T | CA2790193589 | | | |
11 | g.2444621G>T | CA2611999072 | | | gnomAD v4 |
11 | g.2444622G>A | CA1948159750 | | | dbSNP gnomAD v4 |
11 | g.2444622G= | CA1948159749 | | | |
11 | g.2444622G>T | CA934454232 | | | |
11 | g.2444622_2444675del | CA2790193591 | | | |
11 | g.2444623T>C | CA674857440 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444623T>G | CA934454234 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444623T= | CA1948159751 | | | |
11 | g.2444624A= | CA1948159753 | | | |
11 | g.2444624A>C | CA2590530704 | | | gnomAD v3 gnomAD v4 |
11 | g.2444624A>G | CA674857441 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444625A= | CA1948159755 | | | |
11 | g.2444625A>G | CA1948159754 | | | dbSNP |
11 | g.2444627T>C | CA674857443 | | | dbSNP gnomAD v4 |
11 | g.2444627T>G | CA674857444 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444627T= | CA1948159757 | | | |
11 | g.2444628G>T | CA2611999074 | | | gnomAD v4 |
11 | g.2444629C>T | CA2611999075 | | | gnomAD v4 |
11 | g.2444630A= | CA1948159759 | | | |
11 | g.2444630A>C | CA2790193593 | | | |
11 | g.2444630A>G | CA597098419 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444631C>A | CA597098420 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444631C= | CA1948159762 | | | |
11 | g.2444631C>G | CA597098421 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444631C>T | CA1948159764 | | | dbSNP |
11 | g.2444632A= | CA1948159765 | | | |
11 | g.2444632A>C | CA2790193596 | | | |
11 | g.2444632A>G | CA674857457 | | | dbSNP |
11 | g.2444633C>A | CA2611999076 | | | gnomAD v4 |
11 | g.2444634T>A | CA2723106075 | | | dbSNP |
11 | g.2444634T>C | CA597098422 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444634T>G | CA934454248 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444634T= | CA1948159767 | | | |
11 | g.2444636G>C | CA674857464 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444636G= | CA1948159770 | | | |
11 | g.2444636G>T | CA2611999081 | | | gnomAD v4 |
11 | g.2444638_2444694del | CA2790193597 | | | |
11 | g.2444638A>C | CA2590530706 | | | gnomAD v3 gnomAD v4 |
11 | g.2444638A>T | CA2790193598 | | | |
11 | g.2444639C>A | CA934454250 | | | gnomAD v3 gnomAD v4 |
11 | g.2444639C= | CA1948159774 | | | |
11 | g.2444639C>G | CA1948159775 | | | dbSNP |
11 | g.2444645_2444701del | CA2611999084 | | | gnomAD v4 |
11 | g.2444640G>A | CA2611999086 | | | gnomAD v4 |
11 | g.2444640G>C | CA216292260 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444640G= | CA1948159777 | | | |
11 | g.2444640G>T | CA2611999087 | | | gnomAD v4 |
11 | g.2444641G>A | CA934454256 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444641G= | CA1948159779 | | | |
11 | g.2444648_2444832del | CA2611999089 | | | gnomAD v4 |
11 | g.2444642G>A | CA2543829787 | | | |
11 | g.2444643G>A | CA2611999090 | | | gnomAD v4 |
11 | g.2444643G>C | CA2611999091 | | | gnomAD v4 |
11 | g.2444644C>A | CA934454266 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444644C= | CA1948159782 | | | |
11 | g.2444644C>T | CA674857468 | | | dbSNP gnomAD v4 |
11 | g.2444645C>A | CA2611999093 | | | gnomAD v4 |
11 | g.2444645C>T | CA2611999094 | | | gnomAD v4 |
11 | g.2444646_2444673del | CA2611999092 | | | gnomAD v4 |
11 | g.2444646A>C | CA2790193599 | | | |
11 | g.2444648A= | CA1948159786 | | | |
11 | g.2444648A>C | CA2611999096 | | | gnomAD v4 |
11 | g.2444648A>G | CA674857470 | | | dbSNP gnomAD v4 |
11 | g.2444649C>A | CA597098423 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444649C= | CA1948159790 | | | |
11 | g.2444649_2444650delinsCA | CA1948159792 | | | |
11 | g.2444650del | CA674857475 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444650A>C | CA2790193601 | | | |
11 | g.2444650A>T | CA2590530707 | | | gnomAD v3 gnomAD v4 |
11 | g.2444651G>A | CA216292274 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444651G= | CA1948159798 | | | |
11 | g.2444653T>A | CA1948159804 | | | dbSNP |
11 | g.2444653T>C | CA674857479 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444653T>G | CA216292275 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444653T= | CA1948159805 | | | |
11 | g.2444654G>A | CA216292277 | KCNQ1 | c.-32G>A (n.-32G>A)
| dbSNP gnomAD v4 |
11 | g.2444654G= | CA1948159807 | KCNQ1 | c.-32G= (n.-32G=)
| |
11 | g.2444654G>T | CA2611999108 | KCNQ1 | c.-32G>T (n.-32G>T)
| gnomAD v4 |
11 | g.2444655G>T | CA2611999109 | KCNQ1 | c.-31G>T (n.-31G>T)
| gnomAD v4 |
11 | g.2444656G>A | CA2611999110 | KCNQ1 | c.-30G>A (n.-30G>A)
| gnomAD v4 |
11 | g.2444656G>C | CA2611999111 | KCNQ1 | c.-30G>C (n.-30G>C)
| gnomAD v4 |
11 | g.2444656G>T | CA2611999112 | KCNQ1 | c.-30G>T (n.-30G>T)
| gnomAD v4 |
11 | g.2444657C>A | CA2611999115 | KCNQ1 | c.-29C>A (n.-29C>A)
| gnomAD v4 |
11 | g.2444657C>G | CA2611999116 | KCNQ1 | c.-29C>G (n.-29C>G)
| gnomAD v4 |
11 | g.2444657C>T | CA2611999117 | KCNQ1 | c.-29C>T (n.-29C>T)
| gnomAD v4 |
11 | g.2444658G>A | CA2611999119 | KCNQ1 | c.-28G>A (n.-28G>A)
| gnomAD v4 |
11 | g.2444658G>T | CA2611999120 | KCNQ1 | c.-28G>T (n.-28G>T)
| gnomAD v4 |
11 | g.2444658_2444659delinsGA | CA1948159808 | KCNQ1 | c.-28_-27delinsGA (n.-28_-27delinsGA)
| |
11 | g.2444659del | CA674857484 | KCNQ1 | c.-27del (n.-27del)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444659A= | CA1948159810 | KCNQ1 | c.-27A= (n.-27A=)
| |
11 | g.2444659A>G | CA597098424 | KCNQ1 | c.-27A>G (n.-27A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444659A>T | CA1948159812 | KCNQ1 | c.-27A>T (n.-27A>T)
| dbSNP |
11 | g.2444660G>A | CA2590530708 | KCNQ1 | c.-26G>A (n.-26G>A)
| gnomAD v3 gnomAD v4 |
11 | g.2444660G>T | CA2790193605 | KCNQ1 | c.-26G>T (n.-26G>T)
| |
11 | g.2444662A= | CA1948159813 | KCNQ1 | c.-24A= (n.-24A=)
| |
11 | g.2444662A>G | CA934454291 | KCNQ1 | c.-24A>G (n.-24A>G)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444662A>T | CA2611999124 | KCNQ1 | c.-24A>T (n.-24A>T)
| gnomAD v4 |
11 | g.2444663G>T | CA2611999128 | KCNQ1 | c.-23G>T (n.-23G>T)
| gnomAD v4 |
11 | g.2444667del | CA2611999127 | KCNQ1 | c.-19del (n.-19del)
| gnomAD v4 |
11 | g.2444673_2444742del | CA2611999130 | KCNQ1 | c.-13_23+34del
| gnomAD v4 |
11 | g.2444673_2444760del | CA2611999131 | KCNQ1 | c.-13_23+52del
| gnomAD v4 |
11 | g.2444670_2444763del | CA2611999129 | KCNQ1 | c.-16_23+55del
| gnomAD v4 |
11 | g.2444674_2444906del | CA934454294 | KCNQ1 | c.-12_23+198del
| gnomAD v3 gnomAD v4 |
11 | g.2444664G>A | CA2611999132 | KCNQ1 | c.-22G>A (n.-22G>A)
| gnomAD v4 |
11 | g.2444664G>T | CA2790193607 | KCNQ1 | c.-22G>T (n.-22G>T)
| |
11 | g.2444665G>A | CA2611999138 | KCNQ1 | c.-21G>A (n.-21G>A)
| gnomAD v4 |
11 | g.2444665G>C | CA2611999140 | KCNQ1 | c.-21G>C (n.-21G>C)
| gnomAD v4 |
11 | g.2444668_2444723del | CA2611999137 | KCNQ1 | c.-18_23+15del
| gnomAD v4 |
11 | g.2444666G>A | CA2790193608 | KCNQ1 | c.-20G>A (n.-20G>A)
| |
11 | g.2444666G>C | CA2611999141 | KCNQ1 | c.-20G>C (n.-20G>C)
| gnomAD v4 |
11 | g.2444667G>A | CA2611999144 | KCNQ1 | c.-19G>A (n.-19G>A)
| gnomAD v4 |
11 | g.2444667G>C | CA2611999145 | KCNQ1 | c.-19G>C (n.-19G>C)
| gnomAD v4 |
11 | g.2444667G= | CA1948159816 | KCNQ1 | c.-19G= (n.-19G=)
| |
11 | g.2444667G>T | CA1948159815 | KCNQ1 | c.-19G>T (n.-19G>T)
| dbSNP gnomAD v4 |
11 | g.2444668C>A | CA2611999147 | KCNQ1 | c.-18C>A (n.-18C>A)
| gnomAD v4 |
11 | g.2444668C= | CA1948159817 | KCNQ1 | c.-18C= (n.-18C=)
| |
11 | g.2444668C>G | CA2611999148 | KCNQ1 | c.-18C>G (n.-18C>G)
| gnomAD v4 |
11 | g.2444668C>T | CA674857490 | KCNQ1 | c.-18C>T (n.-18C>T)
| dbSNP gnomAD v4 |
11 | g.2444669G>A | CA2611999153 | KCNQ1 | c.-17G>A (n.-17G>A)
| gnomAD v4 |
11 | g.2444669G>T | CA2611999152 | KCNQ1 | c.-17G>T (n.-17G>T)
| gnomAD v4 |
11 | g.2444672dup | CA674857492 | KCNQ1 | c.-14dup (n.-14dup)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444669_2444682del | CA2611999155 | KCNQ1 | c.-17_-4del (n.-17_-4del)
| gnomAD v4 |
11 | g.2444674_2444762del | CA2611999154 | KCNQ1 | c.-12_23+54del
| gnomAD v4 |
11 | g.2444670G>A | CA2611999157 | KCNQ1 | c.-16G>A (n.-16G>A)
| gnomAD v4 |
11 | g.2444670G>C | CA597098425 | KCNQ1 | c.-16G>C (n.-16G>C)
| dbSNP gnomAD v2 |
11 | g.2444670G= | CA1948159822 | KCNQ1 | c.-16G= (n.-16G=)
| |
11 | g.2444670G>T | CA2611999158 | KCNQ1 | c.-16G>T (n.-16G>T)
| gnomAD v4 |
11 | g.2444671G>A | CA674857499 | KCNQ1 | c.-15G>A (n.-15G>A)
| dbSNP gnomAD v4 |
11 | g.2444671G= | CA1948159825 | KCNQ1 | c.-15G= (n.-15G=)
| |
11 | g.2444672G>A | CA597098426 | KCNQ1 | c.-14G>A (n.-14G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444672G>C | CA2611999161 | KCNQ1 | c.-14G>C (n.-14G>C)
| gnomAD v4 |
11 | g.2444672G= | CA1948159827 | KCNQ1 | c.-14G= (n.-14G=)
| |
11 | g.2444673C>A | CA597098427 | KCNQ1 | c.-13C>A (n.-13C>A)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.2444673C= | CA1948159832 | KCNQ1 | c.-13C= (n.-13C=)
| |
11 | g.2444673C>T | CA2611999164 | KCNQ1 | c.-13C>T (n.-13C>T)
| gnomAD v4 |
11 | g.2444674del | CA934454298 | KCNQ1 | c.-12del (n.-12del)
| gnomAD v3 gnomAD v4 |
11 | g.2444673_2444674insGTG | CA934454303 | KCNQ1 | c.-13_-12insGTG (n.-13_-12insGTG)
| gnomAD v3 gnomAD v4 |
11 | g.2444674C>A | CA2611999166 | KCNQ1 | c.-12C>A (n.-12C>A)
| gnomAD v4 |
11 | g.2444675A>C | CA2723194339 | KCNQ1 | c.-11A>C (n.-11A>C)
| dbSNP |
11 | g.2444676A= | CA1948159834 | KCNQ1 | c.-10A= (n.-10A=)
| |
11 | g.2444676A>C | CA934454311 | KCNQ1 | c.-10A>C (n.-10A>C)
| gnomAD v3 gnomAD v4 |
11 | g.2444676A>G | CA674857510 | KCNQ1 | c.-10A>G (n.-10A>G)
| dbSNP |
11 | g.2444677G>A | CA674857514 | KCNQ1 | c.-9G>A (n.-9G>A)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444677G= | CA1948159836 | KCNQ1 | c.-9G= (n.-9G=)
| |
11 | g.2444677G>T | CA2611999172 | KCNQ1 | c.-9G>T (n.-9G>T)
| gnomAD v4 |
11 | g.2444677_2444705del | CA2611999168 | KCNQ1 | c.-9_20del
| gnomAD v4 |
11 | g.2444682_2444753del | CA2611999170 | KCNQ1 | c.-4_23+45del
| gnomAD v4 |
11 | g.2444678C>A | CA2611999174 | KCNQ1 | c.-8C>A (n.-8C>A)
| gnomAD v4 |
11 | g.2444678C= | CA1948159838 | KCNQ1 | c.-8C= (n.-8C=)
| |
11 | g.2444678C>T | CA597098428 | KCNQ1 | c.-8C>T (n.-8C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444679G>A | CA2611999177 | KCNQ1 | c.-7G>A (n.-7G>A)
| gnomAD v4 |
11 | g.2444679G>C | CA2790193613 | KCNQ1 | c.-7G>C (n.-7G>C)
| |
11 | g.2444679G>T | CA2611999178 | KCNQ1 | c.-7G>T (n.-7G>T)
| gnomAD v4 |
11 | g.2444679_2444691delinsGGGATAGATGACA | CA1948159840 | KCNQ1 | c.-7_6delinsGGGATAGATGACA
| |
11 | g.2444680_2444691del | CA597098429 | KCNQ1 | c.-6_6del
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444681G>A | CA674857523 | KCNQ1 | c.-5G>A (n.-5G>A)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444681G= | CA1948159842 | KCNQ1 | c.-5G= (n.-5G=)
| |
11 | g.2444681G>T | CA216292292 | KCNQ1 | c.-5G>T (n.-5G>T)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444682A>C | CA2590530710 | KCNQ1 | c.-4A>C (n.-4A>C)
| gnomAD v3 gnomAD v4 |
11 | g.2444683T>C | CA2611999180 | KCNQ1 | c.-3T>C (n.-3T>C)
| gnomAD v4 |
11 | g.2444683T>G | CA934454329 | KCNQ1 | c.-3T>G (n.-3T>G)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444683T= | CA1948159846 | KCNQ1 | c.-3T= (n.-3T=)
| |
11 | g.2444683_2444753del | CA2538383780 | KCNQ1 | c.-3_23+45del
| |
11 | g.2444684A= | CA1948159849 | KCNQ1 | c.-2A= (n.-2A=)
| |
11 | g.2444684A>C | CA2790193617 | KCNQ1 | c.-2A>C (n.-2A>C)
| |
11 | g.2444684A>G | CA1948159847 | KCNQ1 | c.-2A>G (n.-2A>G)
| dbSNP |
11 | g.2444684_2444757del | CA2611999182 | KCNQ1 | c.-2_23+49del
| gnomAD v4 |
11 | g.2444686A= | CA1948159851 | KCNQ1 | c.1A= (p.Met1=)
| |
11 | g.2444686A>C | CA379115563 | KCNQ1 | c.1A>C (p.Met1Leu)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444686A>G | CA379115565 | KCNQ1 | c.1A>G (p.Met1Val)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444686A>T | CA379115566 | KCNQ1 | c.1A>T (p.Met1Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444687T>A | CA379115567 | KCNQ1 | c.2T>A (p.Met1Lys)
| |
11 | g.2444687T>C | CA379115570 | KCNQ1 | c.2T>C (p.Met1Thr)
| |
11 | g.2444687T>G | CA379115571 | KCNQ1 | c.2T>G (p.Met1Arg)
| |
11 | g.2444688G>A | CA379115573 | KCNQ1 | c.3G>A (p.Met1Ile)
| |
11 | g.2444688G>C | CA379115574 | KCNQ1 | c.3G>C (p.Met1Ile)
| |
11 | g.2444688G>T | CA379115576 | KCNQ1 | c.3G>T (p.Met1Ile)
| gnomAD v4 |
11 | g.2444689A= | CA1948159854 | KCNQ1 | c.4A= (p.Thr2=)
| |
11 | g.2444689A>C | CA379115581 | KCNQ1 | c.4A>C (p.Thr2Pro)
| |
11 | g.2444689A>G | CA379115579 | KCNQ1 | c.4A>G (p.Thr2Ala)
| gnomAD v4 |
11 | g.2444689A>T | CA379115578 | KCNQ1 | c.4A>T (p.Thr2Ser)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444690C>A | CA379115582 | KCNQ1 | c.5C>A (p.Thr2Lys)
| |
11 | g.2444690C>G | CA379115583 | KCNQ1 | c.5C>G (p.Thr2Arg)
| |
11 | g.2444690C>T | CA379115585 | KCNQ1 | c.5C>T (p.Thr2Ile)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444691A= | CA1948159857 | KCNQ1 | c.6A= (p.Thr2=)
| |
11 | g.2444691A>T | CA597098430 | KCNQ1 | c.6A>T (p.Thr2=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444692C>A | CA2611999189 | KCNQ1 | c.7C>A (p.Arg3=)
| gnomAD v4 |
11 | g.2444692C= | CA1948159859 | KCNQ1 | c.7C= (p.Arg3=)
| |
11 | g.2444692C>G | CA379115586 | KCNQ1 | c.7C>G (p.Arg3Gly)
| dbSNP |
11 | g.2444692C>T | CA379115587 | KCNQ1 | c.7C>T (p.Arg3Ter)
| gnomAD v4 |
11 | g.2444693G>A | CA379115593 | KCNQ1 | c.8G>A (p.Arg3Gln)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444693G>C | CA379115591 | KCNQ1 | c.8G>C (p.Arg3Pro)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444693G= | CA1948159861 | KCNQ1 | c.8G= (p.Arg3=)
| |
11 | g.2444693G>T | CA379115589 | KCNQ1 | c.8G>T (p.Arg3Leu)
| gnomAD v4 |
11 | g.2444694A>C | CA2611999192 | KCNQ1 | c.9A>C (p.Arg3=)
| gnomAD v4 |
11 | g.2444695G>A | CA379115595 | KCNQ1 | c.10G>A (p.Ala4Thr)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444695G>C | CA379115596 | KCNQ1 | c.10G>C (p.Ala4Pro)
| dbSNP |
11 | g.2444695G= | CA1948159865 | KCNQ1 | c.10G= (p.Ala4=)
| |
11 | g.2444695G>T | CA379115597 | KCNQ1 | c.10G>T (p.Ala4Ser)
| |
11 | g.2444700_2444828del | CA934454346 | KCNQ1 | c.15_23+120del
| gnomAD v3 gnomAD v4 |
11 | g.2444696C>A | CA379115599 | KCNQ1 | c.11C>A (p.Ala4Glu)
| dbSNP gnomAD v4 |
11 | g.2444696C= | CA1948159870 | KCNQ1 | c.11C= (p.Ala4=)
| |
11 | g.2444696C>G | CA379115601 | KCNQ1 | c.11C>G (p.Ala4Gly)
| |
11 | g.2444696C>T | CA379115602 | KCNQ1 | c.11C>T (p.Ala4Val)
| gnomAD v4 |
11 | g.2444696_2444697delinsCG | CA1948159871 | KCNQ1 | c.11_12delinsCG (p.Ala4=)
| |
11 | g.2444697G>A | CA1948159877 | KCNQ1 | c.12G>A (p.Ala4=)
| dbSNP |
11 | g.2444697G= | CA1948159876 | KCNQ1 | c.12G= (p.Ala4=)
| |
11 | g.2444697G>T | CA597098431 | KCNQ1 | c.12G>T (p.Ala4=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444700del | CA1948159874 | KCNQ1 | c.15del (p.Leu6Ter)
| dbSNP |
11 | g.2444698G>A | CA379115605 | KCNQ1 | c.13G>A (p.Gly5Arg)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444698G>C | CA379115608 | KCNQ1 | c.13G>C (p.Gly5Arg)
| dbSNP |
11 | g.2444698G= | CA1948159879 | KCNQ1 | c.13G= (p.Gly5=)
| |
11 | g.2444698G>T | CA379115607 | KCNQ1 | c.13G>T (p.Gly5Trp)
| gnomAD v4 |
11 | g.2444699G>A | CA379115609 | KCNQ1 | c.14G>A (p.Gly5Glu)
| |
11 | g.2444699G>C | CA379115611 | KCNQ1 | c.14G>C (p.Gly5Ala)
| dbSNP |
11 | g.2444699G= | CA1948159881 | KCNQ1 | c.14G= (p.Gly5=)
| |
11 | g.2444699G>T | CA379115613 | KCNQ1 | c.14G>T (p.Gly5Val)
| |
11 | g.2444700G>A | CA2611999195 | KCNQ1 | c.15G>A (p.Gly5=)
| gnomAD v4 |
11 | g.2444701C>A | CA379115614 | KCNQ1 | c.16C>A (p.Leu6Ile)
| gnomAD v3 gnomAD v4 |
11 | g.2444701C>G | CA379115616 | KCNQ1 | c.16C>G (p.Leu6Val)
| |
11 | g.2444702T>A | CA379115617 | KCNQ1 | c.17T>A (p.Leu6Gln)
| |
11 | g.2444702T>C | CA379115618 | KCNQ1 | c.17T>C (p.Leu6Pro)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444702T>G | CA379115620 | KCNQ1 | c.17T>G (p.Leu6Arg)
| |
11 | g.2444702T= | CA1948159883 | KCNQ1 | c.17T= (p.Leu6=)
| |
11 | g.2444703A= | CA1948159886 | KCNQ1 | c.18A= (p.Leu6=)
| |
11 | g.2444703A>C | CA934454360 | KCNQ1 | c.18A>C (p.Leu6=)
| gnomAD v3 gnomAD v4 |
11 | g.2444703A>G | CA934454365 | KCNQ1 | c.18A>G (p.Leu6=)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444704A>C | CA379115621 | KCNQ1 | c.19A>C (p.Ser7Arg)
| gnomAD v3 gnomAD v4 |
11 | g.2444704A>G | CA379115623 | KCNQ1 | c.19A>G (p.Ser7Gly)
| |
11 | g.2444704A>T | CA379115625 | KCNQ1 | c.19A>T (p.Ser7Cys)
| |
11 | g.2444705G>A | CA379115627 | KCNQ1 | c.20G>A (p.Ser7Asn)
| |
11 | g.2444705G>C | CA379115631 | KCNQ1 | c.20G>C (p.Ser7Thr)
| |
11 | g.2444705G>T | CA379115629 | KCNQ1 | c.20G>T (p.Ser7Ile)
| |
11 | g.2444710_2444749del | CA2611999200 | KCNQ1 | c.23+2_23+41del
| gnomAD v4 |
11 | g.2444706C>A | CA379115632 | KCNQ1 | c.21C>A (p.Ser7Arg)
| gnomAD v4 |
11 | g.2444706C>G | CA379115634 | KCNQ1 | c.21C>G (p.Ser7Arg)
| |
11 | g.2444707A>C | CA379115636 | KCNQ1 | c.22A>C (p.Ser8Arg)
| gnomAD v3 gnomAD v4 |
11 | g.2444707A>G | CA379115638 | KCNQ1 | c.22A>G (p.Ser8Gly)
| |
11 | g.2444707A>T | CA379115637 | KCNQ1 | c.22A>T (p.Ser8Cys)
| |