11 | g.2444550_2444662del | CA2611999006 | | | gnomAD v4 |
11 | g.2444566_2444678del | CA934454057 | | | 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.2444590_2444678del | CA934454115 | | | gnomAD v3 gnomAD v4 |
11 | g.2444599_2444658del | CA934454144 | | | gnomAD v3 gnomAD v4 |
11 | g.2444593_2444681del | CA934454152 | | | gnomAD v3 gnomAD v4 |
11 | g.2444599_2444659delinsGGGAGGGGGCGGGGCCAGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGA | CA1948159704 | | | |
11 | g.2444616_2444675del | CA934454187 | | | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444623_2444754del | CA934454210 | | | gnomAD v3 gnomAD v4 |
11 | g.2444616_2444676delinsGGCGGGGTAAATGCACACTGGAACGGGGCCAAACAGGTGGGCGAGGAGGGGGCGGGGCCAA | CA1948159729 | | | |
11 | g.2444622_2444681del | CA597098418 | | | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444622_2444675del | CA2790193591 | | | |
11 | g.2444638_2444694del | CA2790193597 | | | |
11 | g.2444645_2444701del | CA2611999084 | | | gnomAD v4 |
11 | g.2444648_2444832del | CA2611999089 | | | gnomAD v4 |
11 | g.2444646_2444673del | CA2611999092 | | | 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)
| |
11 | g.2444708G>A | CA379115640 | KCNQ1 | c.23G>A (p.Ser8Asn)
| |
11 | g.2444708G>C | CA379115642 | KCNQ1 | c.23G>C (p.Ser8Thr)
| |
11 | g.2444708G>T | CA379115643 | KCNQ1 | c.23G>T (p.Ser8Ile)
| |
11 | g.2444715_2444842del | CA934454380 | KCNQ1 | c.23+7_23+134del
| gnomAD v3 gnomAD v4 |
11 | g.2444709G>A | CA379115645 | KCNQ1 | c.23+1G>A (n.23+1G>A)
| |
11 | g.2444709G>C | CA379115647 | KCNQ1 | c.23+1G>C (n.23+1G>C)
| |
11 | g.2444709G>T | CA379115648 | KCNQ1 | c.23+1G>T (n.23+1G>T)
| |
11 | g.2444710T>A | CA379115649 | KCNQ1 | c.23+2T>A (n.23+2T>A)
| |
11 | g.2444710T>C | CA379115650 | KCNQ1 | c.23+2T>C (n.23+2T>C)
| |
11 | g.2444710T>G | CA379115651 | KCNQ1 | c.23+2T>G (n.23+2T>G)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444710T= | CA1948159888 | KCNQ1 | c.23+2T= (n.23+2T=)
| |
11 | g.2444710_2444711delinsTG | CA1948159887 | KCNQ1 | c.23+2_23+3delinsTG (n.23+2_23+3delinsTG)
| |
11 | g.2444710_2444740delinsTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGG | CA1948159890 | KCNQ1 | c.23+2_23+32delinsTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGG (n.23+2_23+32delinsTGGGCTCGGGCGGGGGTGGGGGTGGGGGCGG)
| |
11 | g.2444711G>A | CA1948159895 | KCNQ1 | c.23+3G>A (n.23+3G>A)
| dbSNP |
11 | g.2444711G= | CA1948159894 | KCNQ1 | c.23+3G= (n.23+3G=)
| |
11 | g.2444713del | CA1948159893 | KCNQ1 | c.23+5del (n.23+5del)
| dbSNP |
11 | g.2444715_2444744del | CA597098432 | KCNQ1 | c.23+7_23+36del (n.23+7_23+36del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444713G>A | CA1948159898 | KCNQ1 | c.23+5G>A (n.23+5G>A)
| dbSNP |
11 | g.2444713G= | CA1948159897 | KCNQ1 | c.23+5G= (n.23+5G=)
| |
11 | g.2444714C>A | CA1948159901 | KCNQ1 | c.23+6C>A (n.23+6C>A)
| dbSNP |
11 | g.2444714C= | CA1948159900 | KCNQ1 | c.23+6C= (n.23+6C=)
| |
11 | g.2444714C>G | CA079685 | KCNQ1 | c.23+6C>G (n.23+6C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444715T>G | CA934454404 | KCNQ1 | c.23+7T>G (n.23+7T>G)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444715T= | CA1948159906 | KCNQ1 | c.23+7T= (n.23+7T=)
| |
11 | g.2444715_2444716delinsTC | CA1948159905 | KCNQ1 | c.23+7_23+8delinsTC (n.23+7_23+8delinsTC)
| |
11 | g.2444716del | CA1948159909 | KCNQ1 | c.23+8del (n.23+8del)
| dbSNP |
11 | g.2444716C= | CA1948159913 | KCNQ1 | c.23+8C= (n.23+8C=)
| |
11 | g.2444716C>T | CA934454413 | KCNQ1 | c.23+8C>T (n.23+8C>T)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444716_2444717delinsCG | CA1948159911 | KCNQ1 | c.23+8_23+9delinsCG (n.23+8_23+9delinsCG)
| |
11 | g.2444716_2444734delinsCGGGCGGGGGTGGGGGTGG | CA1948159910 | KCNQ1 | c.23+8_23+26delinsCGGGCGGGGGTGGGGGTGG (n.23+8_23+26delinsCGGGCGGGGGTGGGGGTGG)
| |
11 | g.2444721_2444848del | CA934454411 | KCNQ1 | c.23+13_23+140del (n.23+13_23+140del)
| gnomAD v3 gnomAD v4 |
11 | g.2444717G>A | CA1948159921 | KCNQ1 | c.23+9G>A (n.23+9G>A)
| dbSNP |
11 | g.2444717G>C | CA2557624258 | KCNQ1 | c.23+9G>C (n.23+9G>C)
| |
11 | g.2444717G= | CA1948159925 | KCNQ1 | c.23+9G= (n.23+9G=)
| |
11 | g.2444717G>T | CA1948159923 | KCNQ1 | c.23+9G>T (n.23+9G>T)
| dbSNP |
11 | g.2444719del | CA597098434 | KCNQ1 | c.23+11del (n.23+11del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444720_2444725dup | CA597098435 | KCNQ1 | c.23+12_23+17dup (n.23+12_23+17dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444720_2444731dup | CA934454421 | KCNQ1 | c.23+12_23+23dup (n.23+12_23+23dup)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444726_2444743del | CA597098433 | KCNQ1 | c.23+18_23+35del (n.23+18_23+35del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444726_2444761del | CA934454426 | KCNQ1 | c.23+18_23+53del (n.23+18_23+53del)
| gnomAD v3 gnomAD v4 |
11 | g.2444726_2444755del | CA2723194405 | KCNQ1 | c.23+18_23+47del (n.23+18_23+47del)
| dbSNP |
11 | g.2444723_2444792del | CA2790193628 | KCNQ1 | c.23+15_23+84del (n.23+15_23+84del)
| |
11 | g.2444726_2444881del | CA934454434 | KCNQ1 | c.23+18_23+173del (n.23+18_23+173del)
| gnomAD v3 gnomAD v4 |
11 | g.2444720C= | CA1948159932 | KCNQ1 | c.23+12C= (n.23+12C=)
| |
11 | g.2444720C>G | CA1948159935 | KCNQ1 | c.23+12C>G (n.23+12C>G)
| dbSNP gnomAD v4 |
11 | g.2444720_2444721delinsCG | CA1948159931 | KCNQ1 | c.23+12_23+13delinsCG (n.23+12_23+13delinsCG)
| |
11 | g.2444720_2444726delinsCGGGGGT | CA1948159929 | KCNQ1 | c.23+12_23+18delinsCGGGGGT (n.23+12_23+18delinsCGGGGGT)
| |
11 | g.2444721G>A | CA1948159946 | KCNQ1 | c.23+13G>A (n.23+13G>A)
| dbSNP |
11 | g.2444721G= | CA1948159945 | KCNQ1 | c.23+13G= (n.23+13G=)
| |
11 | g.2444725_2444726insGGGGGG | CA934454474 | KCNQ1 | c.23+17_23+18insGGGGGG (n.23+17_23+18insGGGGGG)
| gnomAD v3 gnomAD v4 |
11 | g.2444725del | CA674857590 | KCNQ1 | c.23+17del (n.23+17del)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444732_2444737dup | CA597098436 | KCNQ1 | c.23+24_23+29dup (n.23+24_23+29dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444732_2444737del | CA597098437 | KCNQ1 | c.23+24_23+29del (n.23+24_23+29del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444725_2444852del | CA934454482 | KCNQ1 | c.23+17_23+144del (n.23+17_23+144del)
| gnomAD v3 gnomAD v4 |
11 | g.2444723G= | CA1948159948 | KCNQ1 | c.23+15G= (n.23+15G=)
| |
11 | g.2444723G>T | CA674857593 | KCNQ1 | c.23+15G>T (n.23+15G>T)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444724G>A | CA2790193629 | KCNQ1 | c.23+16G>A (n.23+16G>A)
| |
11 | g.2444725G>A | CA2723194407 | KCNQ1 | c.23+17G>A (n.23+17G>A)
| dbSNP |
11 | g.2444726T>A | CA934454490 | KCNQ1 | c.23+18T>A (n.23+18T>A)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444726T>C | CA597098438 | KCNQ1 | c.23+18T>C (n.23+18T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444726T>G | CA597098439 | KCNQ1 | c.23+18T>G (n.23+18T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444726T= | CA1948159952 | KCNQ1 | c.23+18T= (n.23+18T=)
| |
11 | g.2444726_2444738delinsTGGGGGTGGGGGC | CA1948159955 | KCNQ1 | c.23+18_23+30delinsTGGGGGTGGGGGC (n.23+18_23+30delinsTGGGGGTGGGGGC)
| |
11 | g.2444726_2444756delinsTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGC | CA1948159957 | KCNQ1 | c.23+18_23+48delinsTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGC (n.23+18_23+48delinsTGGGGGTGGGGGCGGGGGCGCAGGCGGGGGC)
| |
11 | g.2444727G>A | CA934454507 | KCNQ1 | c.23+19G>A (n.23+19G>A)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444727G= | CA1948159961 | KCNQ1 | c.23+19G= (n.23+19G=)
| |
11 | g.2444727G>T | CA597098440 | KCNQ1 | c.23+19G>T (n.23+19G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444731_2444732insGGGGGG | CA934454495 | KCNQ1 | c.23+23_23+24insGGGGGG (n.23+23_23+24insGGGGGG)
| gnomAD v3 gnomAD v4 |
11 | g.2444732_2444743del | CA934454498 | KCNQ1 | c.23+24_23+35del (n.23+24_23+35del)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444732_2444761del | CA934454503 | KCNQ1 | c.23+24_23+53del (n.23+24_23+53del)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444732_2444818del | CA2611999226 | KCNQ1 | c.23+24_23+110del (n.23+24_23+110del)
| gnomAD v4 |
11 | g.2444730G>A | CA934454521 | KCNQ1 | c.23+22G>A (n.23+22G>A)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444730G= | CA1948159968 | KCNQ1 | c.23+22G= (n.23+22G=)
| |
11 | g.2444730G>T | CA2790193632 | KCNQ1 | c.23+22G>T (n.23+22G>T)
| |
11 | g.2444732_2444875del | CA934454513 | KCNQ1 | c.23+24_23+167del (n.23+24_23+167del)
| gnomAD v3 gnomAD v4 |
11 | g.2444730_2444731insC | CA2509794821 | KCNQ1 | c.23+22_23+23insC (n.23+22_23+23insC)
| |
11 | g.2444731G>A | CA674857597 | KCNQ1 | c.23+23G>A (n.23+23G>A)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444731G>C | CA674857598 | KCNQ1 | c.23+23G>C (n.23+23G>C)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444731G= | CA1948159970 | KCNQ1 | c.23+23G= (n.23+23G=)
| |
11 | g.2444731G>T | CA1948159971 | KCNQ1 | c.23+23G>T (n.23+23G>T)
| dbSNP |
11 | g.2444732T>A | CA934454530 | KCNQ1 | c.23+24T>A (n.23+24T>A)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444732T>C | CA674857606 | KCNQ1 | c.23+24T>C (n.23+24T>C)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444732T>G | CA674857604 | KCNQ1 | c.23+24T>G (n.23+24T>G)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444732T= | CA1948159976 | KCNQ1 | c.23+24T= (n.23+24T=)
| |
11 | g.2444732_2444750delinsTGGGGGCGGGGGCGCAGGC | CA1948159980 | KCNQ1 | c.23+24_23+42delinsTGGGGGCGGGGGCGCAGGC (n.23+24_23+42delinsTGGGGGCGGGGGCGCAGGC)
| |
11 | g.2444732_2444756delinsTGGGGGCGGGGGCGCAGGCGGGGGC | CA1948159978 | KCNQ1 | c.23+24_23+48delinsTGGGGGCGGGGGCGCAGGCGGGGGC (n.23+24_23+48delinsTGGGGGCGGGGGCGCAGGCGGGGGC)
| |
11 | g.2444740_2444745dup | CA674857609 | KCNQ1 | c.23+32_23+37dup (n.23+32_23+37dup)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444740_2444745del | CA2564148899 | KCNQ1 | c.23+32_23+37del (n.23+32_23+37del)
| |
11 | g.2444740_2444763del | CA597098442 | KCNQ1 | c.23+32_23+55del (n.23+32_23+55del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444747_2444764dup | CA597098443 | KCNQ1 | c.23+39_23+56dup (n.23+39_23+56dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444747_2444764del | CA674857608 | KCNQ1 | c.23+39_23+56del (n.23+39_23+56del)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444743_2444886del | CA934454550 | KCNQ1 | c.23+35_23+178del (n.23+35_23+178del)
| gnomAD v3 gnomAD v4 |
11 | g.2444743_2444905del | CA934454569 | KCNQ1 | c.23+35_23+197del (n.23+35_23+197del)
| gnomAD v3 gnomAD v4 |
11 | g.2444734G>A | CA1948159987 | KCNQ1 | c.23+26G>A (n.23+26G>A)
| dbSNP |
11 | g.2444734G>C | CA2529572166 | KCNQ1 | c.23+26G>C (n.23+26G>C)
| gnomAD v3 gnomAD v4 |
11 | g.2444734G= | CA1948159989 | KCNQ1 | c.23+26G= (n.23+26G=)
| |
11 | g.2444735G>A | CA2518174163 | KCNQ1 | c.23+27G>A (n.23+27G>A)
| |
11 | g.2444735G>C | CA674857612 | KCNQ1 | c.23+27G>C (n.23+27G>C)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444735G= | CA1948159992 | KCNQ1 | c.23+27G= (n.23+27G=)
| |
11 | g.2444735G>T | CA1948159994 | KCNQ1 | c.23+27G>T (n.23+27G>T)
| dbSNP |
11 | g.2444735_2444747delinsGGGCGGGGGCGCA | CA1948159991 | KCNQ1 | c.23+27_23+39delinsGGGCGGGGGCGCA (n.23+27_23+39delinsGGGCGGGGGCGCA)
| |
11 | g.2444746_2444757del | CA674857613 | KCNQ1 | c.23+38_23+49del (n.23+38_23+49del)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444746_2444883del | CA2590530718 | KCNQ1 | c.23+38_23+175del (n.23+38_23+175del)
| gnomAD v3 gnomAD v4 |
11 | g.2444746_2444902del | CA934454576 | KCNQ1 | c.23+38_23+194del (n.23+38_23+194del)
| gnomAD v3 gnomAD v4 |
11 | g.2444737G>A | CA674857614 | KCNQ1 | c.23+29G>A (n.23+29G>A)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444737G= | CA1948159996 | KCNQ1 | c.23+29G= (n.23+29G=)
| |
11 | g.2444738C= | CA1948159999 | KCNQ1 | c.23+30C= (n.23+30C=)
| |
11 | g.2444738C>G | CA1948160002 | KCNQ1 | c.23+30C>G (n.23+30C>G)
| dbSNP |
11 | g.2444738_2444739delinsCG | CA1948159998 | KCNQ1 | c.23+30_23+31delinsCG (n.23+30_23+31delinsCG)
| |
11 | g.2444739G>A | CA674857616 | KCNQ1 | c.23+31G>A (n.23+31G>A)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444739G= | CA1948160007 | KCNQ1 | c.23+31G= (n.23+31G=)
| |
11 | g.2444743dup | CA1948160009 | KCNQ1 | c.23+35dup (n.23+35dup)
| dbSNP |
11 | g.2444743del | CA216292296 | KCNQ1 | c.23+35del (n.23+35del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444742_2444886del | CA934454588 | KCNQ1 | c.23+34_23+178del (n.23+34_23+178del)
| gnomAD v3 gnomAD v4 |
11 | g.2444741G= | CA1948160010 | KCNQ1 | c.23+33G= (n.23+33G=)
| |
11 | g.2444741G>T | CA674857621 | KCNQ1 | c.23+33G>T (n.23+33G>T)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444741_2444746del | CA2539999892 | KCNQ1 | c.23+33_23+38del (n.23+33_23+38del)
| |
11 | g.2444741_2444747delinsGGGCGCA | CA1948160012 | KCNQ1 | c.23+33_23+39delinsGGGCGCA (n.23+33_23+39delinsGGGCGCA)
| |
11 | g.2444743_2444749del | CA2790193636 | KCNQ1 | c.23+35_23+41del (n.23+35_23+41del)
| |
11 | g.2444746_2444751del | CA597098446 | KCNQ1 | c.23+38_23+43del (n.23+38_23+43del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444742_2444743insC | CA2790193637 | KCNQ1 | c.23+34_23+35insC (n.23+34_23+35insC)
| |
11 | g.2444744C>A | CA674857622 | KCNQ1 | c.23+36C>A (n.23+36C>A)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444744C= | CA1948160016 | KCNQ1 | c.23+36C= (n.23+36C=)
| |
11 | g.2444744C>G | CA1948160014 | KCNQ1 | c.23+36C>G (n.23+36C>G)
| dbSNP |
11 | g.2444744C>T | CA2611999233 | KCNQ1 | c.23+36C>T (n.23+36C>T)
| gnomAD v4 |
11 | g.2444761_2444905del | CA934454615 | KCNQ1 | c.23+53_23+197del (n.23+53_23+197del)
| gnomAD v3 gnomAD v4 |
11 | g.2444746C= | CA1948160019 | KCNQ1 | c.23+38C= (n.23+38C=)
| |
11 | g.2444746C>G | CA1948160021 | KCNQ1 | c.23+38C>G (n.23+38C>G)
| dbSNP |
11 | g.2444746_2444758delinsCAGGCGGGGGCGG | CA1948160022 | KCNQ1 | c.23+38_23+50delinsCAGGCGGGGGCGG (n.23+38_23+50delinsCAGGCGGGGGCGG)
| |
11 | g.2444747A= | CA1948160024 | KCNQ1 | c.23+39A= (n.23+39A=)
| |
11 | g.2444747A>C | CA934454619 | KCNQ1 | c.23+39A>C (n.23+39A>C)
| gnomAD v3 gnomAD v4 |
11 | g.2444747A>G | CA597098447 | KCNQ1 | c.23+39A>G (n.23+39A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444747A>T | CA934454621 | KCNQ1 | c.23+39A>T (n.23+39A>T)
| gnomAD v3 gnomAD v4 |
11 | g.2444747_2444753delinsAGGCGGG | CA1948160025 | KCNQ1 | c.23+39_23+45delinsAGGCGGG (n.23+39_23+45delinsAGGCGGG)
| |
11 | g.2444747_2444758del | CA1948160026 | KCNQ1 | c.23+39_23+50del (n.23+39_23+50del)
| dbSNP |
11 | g.2444758_2444763dup | CA674857624 | KCNQ1 | c.23+50_23+55dup (n.23+50_23+55dup)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444758_2444763del | CA934454627 | KCNQ1 | c.23+50_23+55del (n.23+50_23+55del)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444750C= | CA1948160032 | KCNQ1 | c.23+42C= (n.23+42C=)
| |
11 | g.2444750C>G | CA674857635 | KCNQ1 | c.23+42C>G (n.23+42C>G)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444750C>T | CA1948160033 | KCNQ1 | c.23+42C>T (n.23+42C>T)
| dbSNP |
11 | g.2444751G>A | CA934454630 | KCNQ1 | c.23+43G>A (n.23+43G>A)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444751G= | CA1948160035 | KCNQ1 | c.23+43G= (n.23+43G=)
| |
11 | g.2444752G>A | CA934454639 | KCNQ1 | c.23+44G>A (n.23+44G>A)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444752G= | CA1948160036 | KCNQ1 | c.23+44G= (n.23+44G=)
| |
11 | g.2444756_2444783del | CA2790193641 | KCNQ1 | c.23+48_23+75del (n.23+48_23+75del)
| |
11 | g.2444753G>A | CA597098449 | KCNQ1 | c.23+45G>A (n.23+45G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2444753G= | CA1948160038 | KCNQ1 | c.23+45G= (n.23+45G=)
| |
11 | g.2444753G>T | CA2611999236 | KCNQ1 | c.23+45G>T (n.23+45G>T)
| gnomAD v4 |
11 | g.2444754G>C | CA934454647 | KCNQ1 | c.23+46G>C (n.23+46G>C)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444754G= | CA1948160040 | KCNQ1 | c.23+46G= (n.23+46G=)
| |
11 | g.2444764_2444883del | CA2553206987 | KCNQ1 | c.23+56_23+175del (n.23+56_23+175del)
| |
11 | g.2444764_2444902del | CA2790193642 | KCNQ1 | c.23+56_23+194del (n.23+56_23+194del)
| |
11 | g.2444755G= | CA1948160042 | KCNQ1 | c.23+47G= (n.23+47G=)
| |
11 | g.2444755G>T | CA1948160044 | KCNQ1 | c.23+47G>T (n.23+47G>T)
| dbSNP |
11 | g.2444756del | CA934454651 | KCNQ1 | c.23+48del (n.23+48del)
| gnomAD v3 gnomAD v4 |
11 | g.2444756C= | CA1948160047 | KCNQ1 | c.23+48C= (n.23+48C=)
| |
11 | g.2444756C>G | CA216292297 | KCNQ1 | c.23+48C>G (n.23+48C>G)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.2444756C>T | CA674857643 | KCNQ1 | c.23+48C>T (n.23+48C>T)
| dbSNP |