OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.74457363T>A | CA475888019 | KCNE3 | c.201A>T (p.Leu67=) c.333A>T (p.Leu111=) | |
| 11 | g.74457363T>C | CA475888020 | KCNE3 | c.201A>G (p.Leu67=) c.333A>G (p.Leu111=) | |
| 11 | g.74457363T>G | CA475888022 | KCNE3 | c.201A>C (p.Leu67=) c.333A>C (p.Leu111=) | |
| 11 | g.74457364A>C | CA381973859 | KCNE3 | c.200T>G (p.Leu67Arg) c.332T>G (p.Leu111Arg) | |
| 11 | g.74457364A>G | CA381973860 | KCNE3 | c.200T>C (p.Leu67Pro) c.332T>C (p.Leu111Pro) | |
| 11 | g.74457364A>T | CA381973861 | KCNE3 | c.200T>A (p.Leu67Gln) c.332T>A (p.Leu111Gln) | |
| 11 | g.74457365G>A | CA475888025 | KCNE3 | c.199C>T (p.Leu67=) c.331C>T (p.Leu111=) | |
| 11 | g.74457365G>C | CA381973862 | KCNE3 | c.199C>G (p.Leu67Val) c.331C>G (p.Leu111Val) | gnomAD v4 |
| 11 | g.74457365G>T | CA381973863 | KCNE3 | c.199C>A (p.Leu67Ile) c.331C>A (p.Leu111Ile) | |
| 11 | g.74457366A= | CA1982893275 | KCNE3 | c.198T= (p.Phe66=) c.330T= (p.Phe110=) | |
| 11 | g.74457366A>C | CA381973864 | KCNE3 | c.198T>G (p.Phe66Leu) c.330T>G (p.Phe110Leu) | |
| 11 | g.74457366A>G | CA6184832 | KCNE3 | c.198T>C (p.Phe66=) c.330T>C (p.Phe110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457366A>T | CA381973865 | KCNE3 | c.198T>A (p.Phe66Leu) c.330T>A (p.Phe110Leu) | |
| 11 | g.74457367A>C | CA381973866 | KCNE3 | c.197T>G (p.Phe66Cys) c.329T>G (p.Phe110Cys) | |
| 11 | g.74457367A>G | CA381973868 | KCNE3 | c.197T>C (p.Phe66Ser) c.329T>C (p.Phe110Ser) | gnomAD v4 |
| 11 | g.74457367A>T | CA381973867 | KCNE3 | c.197T>A (p.Phe66Tyr) c.329T>A (p.Phe110Tyr) | |
| 11 | g.74457368A= | CA1982893276 | KCNE3 | c.196T= (p.Phe66=) c.328T= (p.Phe110=) | |
| 11 | g.74457368A>C | CA381973869 | KCNE3 | c.196T>G (p.Phe66Val) c.328T>G (p.Phe110Val) | |
| 11 | g.74457368A>G | CA6184833 | KCNE3 | c.196T>C (p.Phe66Leu) c.328T>C (p.Phe110Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.74457368A>T | CA381973870 | KCNE3 | c.196T>A (p.Phe66Ile) c.328T>A (p.Phe110Ile) | |
| 11 | g.74457369C>A | CA381973871 | KCNE3 | c.195G>T (p.Met65Ile) c.327G>T (p.Met109Ile) | |
| 11 | g.74457369C= | CA1982893277 | KCNE3 | c.195G= (p.Met65=) c.327G= (p.Met109=) | |
| 11 | g.74457369C>G | CA381973872 | KCNE3 | c.195G>C (p.Met65Ile) c.327G>C (p.Met109Ile) | |
| 11 | g.74457369C>T | CA6184834 | KCNE3 | c.195G>A (p.Met65Ile) c.327G>A (p.Met109Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457370A= | CA1982893278 | KCNE3 | c.194T= (p.Met65=) c.326T= (p.Met109=) | |
| 11 | g.74457370A>C | CA381973873 | KCNE3 | c.194T>G (p.Met65Arg) c.326T>G (p.Met109Arg) | |
| 11 | g.74457370A>G | CA381973874 | KCNE3 | c.194T>C (p.Met65Thr) c.326T>C (p.Met109Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457370A>T | CA381973875 | KCNE3 | c.194T>A (p.Met65Lys) c.326T>A (p.Met109Lys) | |
| 11 | g.74457371T>A | CA381973876 | KCNE3 | c.193A>T (p.Met65Leu) c.325A>T (p.Met109Leu) | |
| 11 | g.74457371T>C | CA381973877 | KCNE3 | c.193A>G (p.Met65Val) c.325A>G (p.Met109Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.74457371T>G | CA381973878 | KCNE3 | c.193A>C (p.Met65Leu) c.325A>C (p.Met109Leu) | gnomAD v4 |
| 11 | g.74457371T= | CA1982893279 | KCNE3 | c.193A= (p.Met65=) c.325A= (p.Met109=) | |
| 11 | g.74457372G>A | CA475888029 | KCNE3 | c.192C>T (p.Val64=) c.324C>T (p.Val108=) | |
| 11 | g.74457372G>C | CA475888033 | KCNE3 | c.192C>G (p.Val64=) c.324C>G (p.Val108=) | |
| 11 | g.74457372G>T | CA475888031 | KCNE3 | c.192C>A (p.Val64=) c.324C>A (p.Val108=) | |
| 11 | g.74457373A= | CA1982893280 | KCNE3 | c.191T= (p.Val64=) c.323T= (p.Val108=) | |
| 11 | g.74457373A>C | CA381973880 | KCNE3 | c.191T>G (p.Val64Gly) c.323T>G (p.Val108Gly) | |
| 11 | g.74457373A>G | CA6184835 | KCNE3 | c.191T>C (p.Val64Ala) c.323T>C (p.Val108Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.74457373A>T | CA381973879 | KCNE3 | c.191T>A (p.Val64Asp) c.323T>A (p.Val108Asp) | |
| 11 | g.74457374_74457375del | CA2615094116 | KCNE3 | c.190_191del (p.Val64HisfsTer25) c.322_323del (p.Val108HisfsTer25) | gnomAD v4 |
| 11 | g.74457374C>A | CA381973881 | KCNE3 | c.190G>T (p.Val64Phe) c.322G>T (p.Val108Phe) | |
| 11 | g.74457374C>G | CA381973882 | KCNE3 | c.190G>C (p.Val64Leu) c.322G>C (p.Val108Leu) | |
| 11 | g.74457374C>T | CA381973883 | KCNE3 | c.190G>A (p.Val64Ile) c.322G>A (p.Val108Ile) | |
| 11 | g.74457375A>C | CA381973884 | KCNE3 | c.189T>G (p.Phe63Leu) c.321T>G (p.Phe107Leu) | |
| 11 | g.74457375A>G | CA475888036 | KCNE3 | c.189T>C (p.Phe63=) c.321T>C (p.Phe107=) | |
| 11 | g.74457375A>T | CA381973885 | KCNE3 | c.189T>A (p.Phe63Leu) c.321T>A (p.Phe107Leu) | |
| 11 | g.74457376A>C | CA381973886 | KCNE3 | c.188T>G (p.Phe63Cys) c.320T>G (p.Phe107Cys) | |
| 11 | g.74457376A>G | CA381973887 | KCNE3 | c.188T>C (p.Phe63Ser) c.320T>C (p.Phe107Ser) | |
| 11 | g.74457376A>T | CA381973888 | KCNE3 | c.188T>A (p.Phe63Tyr) c.320T>A (p.Phe107Tyr) | |
| 11 | g.74457377A>C | CA381973889 | KCNE3 | c.187T>G (p.Phe63Val) c.319T>G (p.Phe107Val) | |
| 11 | g.74457377A>G | CA381973890 | KCNE3 | c.187T>C (p.Phe63Leu) c.319T>C (p.Phe107Leu) | |
| 11 | g.74457377A>T | CA381973891 | KCNE3 | c.187T>A (p.Phe63Ile) c.319T>A (p.Phe107Ile) | |
| 11 | g.74457378G>A | CA475888039 | KCNE3 | c.186C>T (p.Leu62=) c.318C>T (p.Leu106=) | |
| 11 | g.74457378G>C | CA475888040 | KCNE3 | c.186C>G (p.Leu62=) c.318C>G (p.Leu106=) | dbSNP |
| 11 | g.74457378G= | CA1982893281 | KCNE3 | c.186C= (p.Leu62=) c.318C= (p.Leu106=) | |
| 11 | g.74457378G>T | CA475888041 | KCNE3 | c.186C>A (p.Leu62=) c.318C>A (p.Leu106=) | |
| 11 | g.74457379A>C | CA381973893 | KCNE3 | c.185T>G (p.Leu62Arg) c.317T>G (p.Leu106Arg) | |
| 11 | g.74457379A>G | CA381973894 | KCNE3 | c.185T>C (p.Leu62Pro) c.317T>C (p.Leu106Pro) | gnomAD v4 |
| 11 | g.74457379A>T | CA381973892 | KCNE3 | c.185T>A (p.Leu62His) c.317T>A (p.Leu106His) | |
| 11 | g.74457380G>A | CA381973896 | KCNE3 | c.184C>T (p.Leu62Phe) c.316C>T (p.Leu106Phe) | |
| 11 | g.74457380G>C | CA381973895 | KCNE3 | c.184C>G (p.Leu62Val) c.316C>G (p.Leu106Val) | COSMIC |
| 11 | g.74457380G>T | CA381973897 | KCNE3 | c.184C>A (p.Leu62Ile) c.316C>A (p.Leu106Ile) | |
| 11 | g.74457381A= | CA1982893282 | KCNE3 | c.183T= (p.Ile61=) c.315T= (p.Ile105=) | |
| 11 | g.74457381A>C | CA381973898 | KCNE3 | c.183T>G (p.Ile61Met) c.315T>G (p.Ile105Met) | |
| 11 | g.74457381A>G | CA475888045 | KCNE3 | c.183T>C (p.Ile61=) c.315T>C (p.Ile105=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.74457381A>T | CA475888046 | KCNE3 | c.183T>A (p.Ile61=) c.315T>A (p.Ile105=) | gnomAD v4 |
| 11 | g.74457382A= | CA1982893283 | KCNE3 | c.182T= (p.Ile61=) c.314T= (p.Ile105=) | |
| 11 | g.74457382A>C | CA381973899 | KCNE3 | c.182T>G (p.Ile61Ser) c.314T>G (p.Ile105Ser) | |
| 11 | g.74457382A>G | CA6184836 | KCNE3 | c.182T>C (p.Ile61Thr) c.314T>C (p.Ile105Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457382A>T | CA381973900 | KCNE3 | c.182T>A (p.Ile61Asn) c.314T>A (p.Ile105Asn) | |
| 11 | g.74457383T>A | CA381973901 | KCNE3 | c.181A>T (p.Ile61Phe) c.313A>T (p.Ile105Phe) | |
| 11 | g.74457383T>C | CA381973902 | KCNE3 | c.181A>G (p.Ile61Val) c.313A>G (p.Ile105Val) | |
| 11 | g.74457383T>G | CA6184837 | KCNE3 | c.181A>C (p.Ile61Leu) c.313A>C (p.Ile105Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.74457383T= | CA1982893284 | KCNE3 | c.181A= (p.Ile61=) c.313A= (p.Ile105=) | |
| 11 | g.74457383_74457384insA | CA2792710371 | KCNE3 | c.180_181insT (p.Ile61TyrfsTer29) c.312_313insT (p.Ile105TyrfsTer29) | |
| 11 | g.74457384G>A | CA475888051 | KCNE3 | c.180C>T (p.Tyr60=) c.312C>T (p.Tyr104=) | gnomAD v4 |
| 11 | g.74457384G>C | CA381973903 | KCNE3 | c.180C>G (p.Tyr60Ter) c.312C>G (p.Tyr104Ter) | |
| 11 | g.74457384G>T | CA381973904 | KCNE3 | c.180C>A (p.Tyr60Ter) c.312C>A (p.Tyr104Ter) | |
| 11 | g.74457385T>A | CA381973905 | KCNE3 | c.179A>T (p.Tyr60Phe) c.311A>T (p.Tyr104Phe) | |
| 11 | g.74457385T>C | CA224975655 | KCNE3 | c.179A>G (p.Tyr60Cys) c.311A>G (p.Tyr104Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.74457385T>G | CA381973906 | KCNE3 | c.179A>C (p.Tyr60Ser) c.311A>C (p.Tyr104Ser) | |
| 11 | g.74457385T= | CA1982893285 | KCNE3 | c.179A= (p.Tyr60=) c.311A= (p.Tyr104=) | |
| 11 | g.74457386A= | CA1982893286 | KCNE3 | c.178T= (p.Tyr60=) c.310T= (p.Tyr104=) | |
| 11 | g.74457386A>C | CA381973909 | KCNE3 | c.178T>G (p.Tyr60Asp) c.310T>G (p.Tyr104Asp) | gnomAD v4 |
| 11 | g.74457386A>G | CA381973907 | KCNE3 | c.178T>C (p.Tyr60His) c.310T>C (p.Tyr104His) | dbSNP gnomAD v4 |
| 11 | g.74457386A>T | CA381973908 | KCNE3 | c.178T>A (p.Tyr60Asn) c.310T>A (p.Tyr104Asn) | |
| 11 | g.74457387C>A | CA381973910 | KCNE3 | c.177G>T (p.Met59Ile) c.309G>T (p.Met103Ile) | |
| 11 | g.74457387C= | CA1982893287 | KCNE3 | c.177G= (p.Met59=) c.309G= (p.Met103=) | |
| 11 | g.74457387C>G | CA381973911 | KCNE3 | c.177G>C (p.Met59Ile) c.309G>C (p.Met103Ile) | |
| 11 | g.74457387C>T | CA381973912 | KCNE3 | c.177G>A (p.Met59Ile) c.309G>A (p.Met103Ile) | ClinVar dbSNP gnomAD v4 |
| 11 | g.74457388A>C | CA381973913 | KCNE3 | c.176T>G (p.Met59Arg) c.308T>G (p.Met103Arg) | |
| 11 | g.74457388A>G | CA381973914 | KCNE3 | c.176T>C (p.Met59Thr) c.308T>C (p.Met103Thr) | |
| 11 | g.74457388A>T | CA381973915 | KCNE3 | c.176T>A (p.Met59Lys) c.308T>A (p.Met103Lys) | |
| 11 | g.74457389T>A | CA381973916 | KCNE3 | c.175A>T (p.Met59Leu) c.307A>T (p.Met103Leu) | |
| 11 | g.74457389T>C | CA381973917 | KCNE3 | c.175A>G (p.Met59Val) c.307A>G (p.Met103Val) | ClinVar gnomAD v4 |
| 11 | g.74457389T>G | CA381973918 | KCNE3 | c.175A>C (p.Met59Leu) c.307A>C (p.Met103Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.74457389T= | CA1982893288 | KCNE3 | c.175A= (p.Met59=) c.307A= (p.Met103=) | |
| 11 | g.74457390G>A | CA475888058 | KCNE3 | c.174C>T (p.Tyr58=) c.306C>T (p.Tyr102=) | gnomAD v4 |
| 11 | g.74457390G>C | CA381973919 | KCNE3 | c.174C>G (p.Tyr58Ter) c.306C>G (p.Tyr102Ter) | |
| 11 | g.74457390G>T | CA381973920 | KCNE3 | c.174C>A (p.Tyr58Ter) c.306C>A (p.Tyr102Ter) | |
| 11 | g.74457391T>A | CA381973922 | KCNE3 | c.173A>T (p.Tyr58Phe) c.305A>T (p.Tyr102Phe) | |
| 11 | g.74457391T>C | CA6184838 | KCNE3 | c.173A>G (p.Tyr58Cys) c.305A>G (p.Tyr102Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457391T>G | CA381973921 | KCNE3 | c.173A>C (p.Tyr58Ser) c.305A>C (p.Tyr102Ser) | |
| 11 | g.74457391T= | CA1982893289 | KCNE3 | c.173A= (p.Tyr58=) c.305A= (p.Tyr102=) | |
| 11 | g.74457392A>C | CA381973923 | KCNE3 | c.172T>G (p.Tyr58Asp) c.304T>G (p.Tyr102Asp) | |
| 11 | g.74457392A>G | CA381973924 | KCNE3 | c.172T>C (p.Tyr58His) c.304T>C (p.Tyr102His) | |
| 11 | g.74457392A>T | CA381973925 | KCNE3 | c.172T>A (p.Tyr58Asn) c.304T>A (p.Tyr102Asn) | |
| 11 | g.74457393G>A | CA475888060 | KCNE3 | c.171C>T (p.Ser57=) c.303C>T (p.Ser101=) | |
| 11 | g.74457393G>C | CA475888061 | KCNE3 | c.171C>G (p.Ser57=) c.303C>G (p.Ser101=) | |
| 11 | g.74457393G>T | CA475888062 | KCNE3 | c.171C>A (p.Ser57=) c.303C>A (p.Ser101=) | |
| 11 | g.74457394G>A | CA381973926 | KCNE3 | c.170C>T (p.Ser57Phe) c.302C>T (p.Ser101Phe) | COSMIC |
| 11 | g.74457394G>C | CA381973927 | KCNE3 | c.170C>G (p.Ser57Cys) c.302C>G (p.Ser101Cys) | |
| 11 | g.74457394G= | CA1982893290 | KCNE3 | c.170C= (p.Ser57=) c.302C= (p.Ser101=) | |
| 11 | g.74457394G>T | CA381973928 | KCNE3 | c.170C>A (p.Ser57Tyr) c.302C>A (p.Ser101Tyr) | dbSNP |
| 11 | g.74457395A>C | CA381973929 | KCNE3 | c.169T>G (p.Ser57Ala) c.301T>G (p.Ser101Ala) | |
| 11 | g.74457395A>G | CA381973930 | KCNE3 | c.169T>C (p.Ser57Pro) c.301T>C (p.Ser101Pro) | |
| 11 | g.74457395A>T | CA381973931 | KCNE3 | c.169T>A (p.Ser57Thr) c.301T>A (p.Ser101Thr) | |
| 11 | g.74457396G>A | CA6184839 | KCNE3 | c.168C>T (p.Asn56=) c.300C>T (p.Asn100=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457396G>C | CA381973932 | KCNE3 | c.168C>G (p.Asn56Lys) c.300C>G (p.Asn100Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.74457396G= | CA1982893291 | KCNE3 | c.168C= (p.Asn56=) c.300C= (p.Asn100=) | |
| 11 | g.74457396G>T | CA381973933 | KCNE3 | c.168C>A (p.Asn56Lys) c.300C>A (p.Asn100Lys) | |
| 11 | g.74457397T>A | CA381973935 | KCNE3 | c.167A>T (p.Asn56Ile) c.299A>T (p.Asn100Ile) | COSMIC |
| 11 | g.74457397T>C | CA6184840 | KCNE3 | c.167A>G (p.Asn56Ser) c.299A>G (p.Asn100Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.74457397T>G | CA381973934 | KCNE3 | c.167A>C (p.Asn56Thr) c.299A>C (p.Asn100Thr) | |
| 11 | g.74457397T= | CA1982893292 | KCNE3 | c.167A= (p.Asn56=) c.299A= (p.Asn100=) | |
| 11 | g.74457398T>A | CA381973936 | KCNE3 | c.166A>T (p.Asn56Tyr) c.298A>T (p.Asn100Tyr) | |
| 11 | g.74457398T>C | CA381973937 | KCNE3 | c.166A>G (p.Asn56Asp) c.298A>G (p.Asn100Asp) | |
| 11 | g.74457398T>G | CA381973938 | KCNE3 | c.166A>C (p.Asn56His) c.298A>C (p.Asn100His) | |
| 11 | g.74457399G>A | CA475888065 | KCNE3 | c.165C>T (p.Asp55=) c.297C>T (p.Asp99=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.74457399G>C | CA381973939 | KCNE3 | c.165C>G (p.Asp55Glu) c.297C>G (p.Asp99Glu) | gnomAD v4 |
| 11 | g.74457399G= | CA1982893293 | KCNE3 | c.165C= (p.Asp55=) c.297C= (p.Asp99=) | |
| 11 | g.74457399G>T | CA6184841 | KCNE3 | c.165C>A (p.Asp55Glu) c.297C>A (p.Asp99Glu) | dbSNP ExAC gnomAD v4 |
| 11 | g.74457400T>A | CA381973942 | KCNE3 | c.164A>T (p.Asp55Val) c.296A>T (p.Asp99Val) | |
| 11 | g.74457400T>C | CA381973941 | KCNE3 | c.164A>G (p.Asp55Gly) c.296A>G (p.Asp99Gly) | |
| 11 | g.74457400T>G | CA381973940 | KCNE3 | c.164A>C (p.Asp55Ala) c.296A>C (p.Asp99Ala) | |
| 11 | g.74457401C>A | CA381973943 | KCNE3 | c.163G>T (p.Asp55Tyr) c.295G>T (p.Asp99Tyr) | |
| 11 | g.74457401C>G | CA381973944 | KCNE3 | c.163G>C (p.Asp55His) c.295G>C (p.Asp99His) | |
| 11 | g.74457401C>T | CA381973945 | KCNE3 | c.163G>A (p.Asp55Asn) c.295G>A (p.Asp99Asn) | |
| 11 | g.74457402A= | CA1982893294 | KCNE3 | c.162T= (p.Asp54=) c.294T= (p.Asp98=) | |
| 11 | g.74457402A>C | CA381973946 | KCNE3 | c.162T>G (p.Asp54Glu) c.294T>G (p.Asp98Glu) | |
| 11 | g.74457402A>G | CA6184842 | KCNE3 | c.162T>C (p.Asp54=) c.294T>C (p.Asp98=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457402A>T | CA381973947 | KCNE3 | c.162T>A (p.Asp54Glu) c.294T>A (p.Asp98Glu) | |
| 11 | g.74457403T>A | CA381973950 | KCNE3 | c.161A>T (p.Asp54Val) c.293A>T (p.Asp98Val) | |
| 11 | g.74457403T>C | CA381973949 | KCNE3 | c.161A>G (p.Asp54Gly) c.293A>G (p.Asp98Gly) | |
| 11 | g.74457403T>G | CA381973948 | KCNE3 | c.161A>C (p.Asp54Ala) c.293A>C (p.Asp98Ala) | |
| 11 | g.74457404C>A | CA381973951 | KCNE3 | c.160G>T (p.Asp54Tyr) c.292G>T (p.Asp98Tyr) | |
| 11 | g.74457404C= | CA1982893295 | KCNE3 | c.160G= (p.Asp54=) c.292G= (p.Asp98=) | |
| 11 | g.74457404C>G | CA381973953 | KCNE3 | c.160G>C (p.Asp54His) c.292G>C (p.Asp98His) | |
| 11 | g.74457404C>T | CA381973952 | KCNE3 | c.160G>A (p.Asp54Asn) c.292G>A (p.Asp98Asn) | dbSNP gnomAD v4 |
| 11 | g.74457405A>C | CA475888067 | KCNE3 | c.159T>G (p.Arg53=) c.291T>G (p.Arg97=) | gnomAD v4 |
| 11 | g.74457405A>G | CA475888069 | KCNE3 | c.159T>C (p.Arg53=) c.291T>C (p.Arg97=) | ClinVar dbSNP |
| 11 | g.74457405A>T | CA475888068 | KCNE3 | c.159T>A (p.Arg53=) c.291T>A (p.Arg97=) | |
| 11 | g.74457406C>A | CA381973954 | KCNE3 | c.158G>T (p.Arg53Leu) c.158G>T c.290G>T (p.Arg97Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.74457406C= | CA1982893296 | KCNE3 | c.158G= (p.Arg53=) c.158G= c.290G= (p.Arg97=) | |
| 11 | g.74457406C>G | CA381973955 | KCNE3 | c.158G>C (p.Arg53Pro) c.158G>C c.290G>C (p.Arg97Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.74457406C>T | CA6184843 | KCNE3 | c.158G>A (p.Arg53His) c.158G>A c.290G>A (p.Arg97His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.74457407G>A | CA6184844 | KCNE3 | c.157C>T (p.Arg53Cys) c.157C>T c.289C>T (p.Arg97Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457407G>C | CA381973956 | KCNE3 | c.157C>G (p.Arg53Gly) c.157C>G c.289C>G (p.Arg97Gly) | |
| 11 | g.74457407G= | CA1982893297 | KCNE3 | c.157C= (p.Arg53=) c.157C= c.289C= (p.Arg97=) | |
| 11 | g.74457407G>T | CA381973957 | KCNE3 | c.157C>A (p.Arg53Ser) c.157C>A c.289C>A (p.Arg97Ser) | dbSNP |
| 11 | g.74457408G>A | CA475888070 | KCNE3 | c.156C>T (p.Gly52=) c.288C>T (p.Gly96=) | |
| 11 | g.74457408G>C | CA475888072 | KCNE3 | c.156C>G (p.Gly52=) c.288C>G (p.Gly96=) | |
| 11 | g.74457408G>T | CA475888073 | KCNE3 | c.156C>A (p.Gly52=) c.288C>A (p.Gly96=) | |
| 11 | g.74457409C>A | CA381973958 | KCNE3 | c.155G>T (p.Gly52Val) c.287G>T (p.Gly96Val) | |
| 11 | g.74457409C>G | CA381973959 | KCNE3 | c.155G>C (p.Gly52Ala) c.287G>C (p.Gly96Ala) | |
| 11 | g.74457409C>T | CA381973960 | KCNE3 | c.155G>A (p.Gly52Asp) c.287G>A (p.Gly96Asp) | |
| 11 | g.74457410C>A | CA381973961 | KCNE3 | c.154G>T (p.Gly52Cys) c.286G>T (p.Gly96Cys) | |
| 11 | g.74457410C>G | CA381973962 | KCNE3 | c.154G>C (p.Gly52Arg) c.286G>C (p.Gly96Arg) | |
| 11 | g.74457410C>T | CA381973963 | KCNE3 | c.154G>A (p.Gly52Ser) c.286G>A (p.Gly96Ser) | |
| 11 | g.74457411A>C | CA475888074 | KCNE3 | c.153T>G (p.Pro51=) c.285T>G (p.Pro95=) | |
| 11 | g.74457411A>G | CA475888075 | KCNE3 | c.153T>C (p.Pro51=) c.285T>C (p.Pro95=) | |
| 11 | g.74457411A>T | CA475888076 | KCNE3 | c.153T>A (p.Pro51=) c.285T>A (p.Pro95=) | |
| 11 | g.74457412G>A | CA381973966 | KCNE3 | c.152C>T (p.Pro51Leu) c.284C>T (p.Pro95Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.74457412G>C | CA381973964 | KCNE3 | c.152C>G (p.Pro51Arg) c.284C>G (p.Pro95Arg) | |
| 11 | g.74457412G= | CA1982893298 | KCNE3 | c.152C= (p.Pro51=) c.284C= (p.Pro95=) | |
| 11 | g.74457412G>T | CA381973965 | KCNE3 | c.152C>A (p.Pro51His) c.284C>A (p.Pro95His) | |
| 11 | g.74457413G>A | CA381973967 | KCNE3 | c.151C>T (p.Pro51Ser) c.283C>T (p.Pro95Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457413G>C | CA381973968 | KCNE3 | c.151C>G (p.Pro51Ala) c.283C>G (p.Pro95Ala) | |
| 11 | g.74457413G= | CA1982893299 | KCNE3 | c.151C= (p.Pro51=) c.283C= (p.Pro95=) | |
| 11 | g.74457413G>T | CA381973969 | KCNE3 | c.151C>A (p.Pro51Thr) c.283C>A (p.Pro95Thr) | |
| 11 | g.74457414T>A | CA6184845 | KCNE3 | c.150A>T (p.Leu50=) c.282A>T (p.Leu94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457414T>C | CA475888081 | KCNE3 | c.150A>G (p.Leu50=) c.282A>G (p.Leu94=) | |
| 11 | g.74457414T>G | CA475888080 | KCNE3 | c.150A>C (p.Leu50=) c.282A>C (p.Leu94=) | dbSNP |
| 11 | g.74457414T= | CA1982893300 | KCNE3 | c.150A= (p.Leu50=) c.282A= (p.Leu94=) | |
| 11 | g.74457415A= | CA1982893301 | KCNE3 | c.149T= (p.Leu50=) c.149T= c.281T= (p.Leu94=) | |
| 11 | g.74457415A>C | CA381973970 | KCNE3 | c.149T>G (p.Leu50Arg) c.149T>G c.281T>G (p.Leu94Arg) | |
| 11 | g.74457415A>G | CA224975656 | KCNE3 | c.149T>C (p.Leu50Pro) c.149T>C c.281T>C (p.Leu94Pro) | dbSNP |
| 11 | g.74457415A>T | CA381973971 | KCNE3 | c.149T>A (p.Leu50Gln) c.149T>A c.281T>A (p.Leu94Gln) | |
| 11 | g.74457416G>A | CA475888082 | KCNE3 | c.148C>T (p.Leu50=) c.148C>T c.280C>T (p.Leu94=) | |
| 11 | g.74457416G>C | CA381973972 | KCNE3 | c.148C>G (p.Leu50Val) c.148C>G c.280C>G (p.Leu94Val) | |
| 11 | g.74457416G>T | CA381973973 | KCNE3 | c.148C>A (p.Leu50Ile) c.148C>A c.280C>A (p.Leu94Ile) | |
| 11 | g.74457417G>A | CA475888084 | KCNE3 | c.147C>T (p.Ser49=) c.279C>T (p.Ser93=) | |
| 11 | g.74457417G>C | CA381973974 | KCNE3 | c.147C>G (p.Ser49Arg) c.279C>G (p.Ser93Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.74457417G= | CA1982893302 | KCNE3 | c.147C= (p.Ser49=) c.279C= (p.Ser93=) | |
| 11 | g.74457417G>T | CA381973975 | KCNE3 | c.147C>A (p.Ser49Arg) c.279C>A (p.Ser93Arg) | |
| 11 | g.74457418C>A | CA381973978 | KCNE3 | c.146G>T (p.Ser49Ile) c.278G>T (p.Ser93Ile) | |
| 11 | g.74457418C>G | CA381973977 | KCNE3 | c.146G>C (p.Ser49Thr) c.278G>C (p.Ser93Thr) | |
| 11 | g.74457418C>T | CA381973976 | KCNE3 | c.146G>A (p.Ser49Asn) c.278G>A (p.Ser93Asn) | |
| 11 | g.74457419T>A | CA381973979 | KCNE3 | c.145A>T (p.Ser49Cys) c.277A>T (p.Ser93Cys) | |
| 11 | g.74457419T>C | CA381973980 | KCNE3 | c.145A>G (p.Ser49Gly) c.277A>G (p.Ser93Gly) | |
| 11 | g.74457419T>G | CA224975657 | KCNE3 | c.145A>C (p.Ser49Arg) c.277A>C (p.Ser93Arg) | dbSNP |
| 11 | g.74457419T= | CA1982893303 | KCNE3 | c.145A= (p.Ser49=) c.277A= (p.Ser93=) | |
| 11 | g.74457420G>A | CA475888085 | KCNE3 | c.144C>T (p.Ala48=) c.276C>T (p.Ala92=) | |
| 11 | g.74457420G>C | CA475888086 | KCNE3 | c.144C>G (p.Ala48=) c.276C>G (p.Ala92=) | |
| 11 | g.74457420G>T | CA475888087 | KCNE3 | c.144C>A (p.Ala48=) c.276C>A (p.Ala92=) | |
| 11 | g.74457421G>A | CA381973981 | KCNE3 | c.143C>T (p.Ala48Val) c.275C>T (p.Ala92Val) | |
| 11 | g.74457421G>C | CA381973982 | KCNE3 | c.143C>G (p.Ala48Gly) c.275C>G (p.Ala92Gly) | |
| 11 | g.74457421G= | CA1982893304 | KCNE3 | c.143C= (p.Ala48=) c.275C= (p.Ala92=) | |
| 11 | g.74457421G>T | CA6184846 | KCNE3 | c.143C>A (p.Ala48Asp) c.275C>A (p.Ala92Asp) | dbSNP ExAC gnomAD v2 |
| 11 | g.74457422C>A | CA381973983 | KCNE3 | c.142G>T (p.Ala48Ser) c.274G>T (p.Ala92Ser) | |
| 11 | g.74457422C>G | CA381973984 | KCNE3 | c.142G>C (p.Ala48Pro) c.274G>C (p.Ala92Pro) | |
| 11 | g.74457422C>T | CA381973985 | KCNE3 | c.142G>A (p.Ala48Thr) c.274G>A (p.Ala92Thr) | gnomAD v4 |
| 11 | g.74457423C>A | CA475888091 | KCNE3 | c.141G>T (p.Arg47=) c.273G>T (p.Arg91=) | |
| 11 | g.74457423C>G | CA475888092 | KCNE3 | c.141G>C (p.Arg47=) c.273G>C (p.Arg91=) | |
| 11 | g.74457423C>T | CA475888093 | KCNE3 | c.141G>A (p.Arg47=) c.273G>A (p.Arg91=) | COSMIC |
| 11 | g.74457424C>A | CA381973986 | KCNE3 | c.140G>T (p.Arg47Leu) c.272G>T (p.Arg91Leu) | |
| 11 | g.74457424C= | CA1982893305 | KCNE3 | c.140G= (p.Arg47=) c.272G= (p.Arg91=) | |
| 11 | g.74457424C>G | CA381973987 | KCNE3 | c.140G>C (p.Arg47Pro) c.272G>C (p.Arg91Pro) | |
| 11 | g.74457424C>T | CA6184847 | KCNE3 | c.140G>A (p.Arg47Gln) c.272G>A (p.Arg91Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457425G>A | CA6184848 | KCNE3 | c.139C>T (p.Arg47Trp) c.271C>T (p.Arg91Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457425G>C | CA224975658 | KCNE3 | c.139C>G (p.Arg47Gly) c.271C>G (p.Arg91Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.74457425G= | CA1982893306 | KCNE3 | c.139C= (p.Arg47=) c.271C= (p.Arg91=) | |
| 11 | g.74457425G>T | CA475888094 | KCNE3 | c.139C>A (p.Arg47=) c.271C>A (p.Arg91=) | dbSNP gnomAD v4 |
| 11 | g.74457426C>A | CA381973988 | KCNE3 | c.138G>T (p.Arg46Ser) c.270G>T (p.Arg90Ser) | |
| 11 | g.74457426C= | CA1982893307 | KCNE3 | c.138G= (p.Arg46=) c.270G= (p.Arg90=) | |
| 11 | g.74457426C>G | CA381973989 | KCNE3 | c.138G>C (p.Arg46Ser) c.270G>C (p.Arg90Ser) | |
| 11 | g.74457426C>T | CA475888095 | KCNE3 | c.138G>A (p.Arg46=) c.270G>A (p.Arg90=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.74457427C>A | CA381973990 | KCNE3 | c.137G>T (p.Arg46Met) c.269G>T (p.Arg90Met) | |
| 11 | g.74457427C= | CA1982893308 | KCNE3 | c.137G= (p.Arg46=) c.269G= (p.Arg90=) | |
| 11 | g.74457427C>G | CA381973991 | KCNE3 | c.137G>C (p.Arg46Thr) c.269G>C (p.Arg90Thr) | |
| 11 | g.74457427C>T | CA6184849 | KCNE3 | c.137G>A (p.Arg46Lys) c.269G>A (p.Arg90Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457428T>A | CA381973992 | KCNE3 | c.136A>T (p.Arg46Trp) c.268A>T (p.Arg90Trp) | |
| 11 | g.74457428T>C | CA6184850 | KCNE3 | c.136A>G (p.Arg46Gly) c.268A>G (p.Arg90Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.74457428T>G | CA475888099 | KCNE3 | c.136A>C (p.Arg46=) c.268A>C (p.Arg90=) | |
| 11 | g.74457428T= | CA1982893309 | KCNE3 | c.136A= (p.Arg46=) c.268A= (p.Arg90=) | |
| 11 | g.74457429C>A | CA381973993 | KCNE3 | c.135G>T (p.Glu45Asp) c.267G>T (p.Glu89Asp) | |
| 11 | g.74457429C= | CA1982893310 | KCNE3 | c.135G= (p.Glu45=) c.267G= (p.Glu89=) | |
| 11 | g.74457429C>G | CA381973994 | KCNE3 | c.135G>C (p.Glu45Asp) c.267G>C (p.Glu89Asp) | dbSNP |
| 11 | g.74457429C>T | CA475888100 | KCNE3 | c.135G>A (p.Glu45=) c.267G>A (p.Glu89=) | |
| 11 | g.74457430T>A | CA381973995 | KCNE3 | c.134A>T (p.Glu45Val) c.266A>T (p.Glu89Val) | |
| 11 | g.74457430T>C | CA381973996 | KCNE3 | c.134A>G (p.Glu45Gly) c.266A>G (p.Glu89Gly) | |
| 11 | g.74457430T>G | CA6184851 | KCNE3 | c.134A>C (p.Glu45Ala) c.266A>C (p.Glu89Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.74457430T= | CA1982893311 | KCNE3 | c.134A= (p.Glu45=) c.266A= (p.Glu89=) | |
| 11 | g.74457431C>A | CA381973997 | KCNE3 | c.133G>T (p.Glu45Ter) c.265G>T (p.Glu89Ter) | dbSNP |
| 11 | g.74457431C>G | CA381973998 | KCNE3 | c.133G>C (p.Glu45Gln) c.265G>C (p.Glu89Gln) | |
| 11 | g.74457431C>T | CA381973999 | KCNE3 | c.133G>A (p.Glu45Lys) c.265G>A (p.Glu89Lys) | |
| 11 | g.74457432T>A | CA381974000 | KCNE3 | c.132A>T (p.Glu44Asp) c.264A>T (p.Glu88Asp) | |
| 11 | g.74457432T>C | CA475888102 | KCNE3 | c.132A>G (p.Glu44=) c.264A>G (p.Glu88=) | |
| 11 | g.74457432T>G | CA381974001 | KCNE3 | c.132A>C (p.Glu44Asp) c.264A>C (p.Glu88Asp) | gnomAD v4 |
| 11 | g.74457433del | CA2615094117 | KCNE3 | c.132del (p.Glu45ArgfsTer26) c.132del (p.Glu45ArgfsTer?) c.264del (p.Glu89ArgfsTer26) | gnomAD v4 |
| 11 | g.74457433T>A | CA381974002 | KCNE3 | c.131A>T (p.Glu44Val) c.263A>T (p.Glu88Val) | |
| 11 | g.74457433T>C | CA381974004 | KCNE3 | c.131A>G (p.Glu44Gly) c.263A>G (p.Glu88Gly) | |
| 11 | g.74457433T>G | CA381974003 | KCNE3 | c.131A>C (p.Glu44Ala) c.263A>C (p.Glu88Ala) | |
| 11 | g.74457434C>A | CA381974005 | KCNE3 | c.130G>T (p.Glu44Ter) c.262G>T (p.Glu88Ter) | |
| 11 | g.74457434C>G | CA381974007 | KCNE3 | c.130G>C (p.Glu44Gln) c.262G>C (p.Glu88Gln) | |
| 11 | g.74457434C>T | CA381974006 | KCNE3 | c.130G>A (p.Glu44Lys) c.262G>A (p.Glu88Lys) | ClinVar |
| 11 | g.74457435A= | CA1982893312 | KCNE3 | c.129T= (p.Thr43=) c.261T= (p.Thr87=) | |
| 11 | g.74457435A>C | CA475888104 | KCNE3 | c.129T>G (p.Thr43=) c.261T>G (p.Thr87=) | |
| 11 | g.74457435A>G | CA475888106 | KCNE3 | c.129T>C (p.Thr43=) c.261T>C (p.Thr87=) | dbSNP |
| 11 | g.74457435A>T | CA475888105 | KCNE3 | c.129T>A (p.Thr43=) c.261T>A (p.Thr87=) | |
| 11 | g.74457436G>A | CA381974008 | KCNE3 | c.128C>T (p.Thr43Ile) c.260C>T (p.Thr87Ile) | dbSNP gnomAD v4 |
| 11 | g.74457436G>C | CA381974010 | KCNE3 | c.128C>G (p.Thr43Ser) c.260C>G (p.Thr87Ser) | gnomAD v4 |
| 11 | g.74457436G= | CA1982893313 | KCNE3 | c.128C= (p.Thr43=) c.260C= (p.Thr87=) | |
| 11 | g.74457436G>T | CA381974009 | KCNE3 | c.128C>A (p.Thr43Asn) c.260C>A (p.Thr87Asn) | |
| 11 | g.74457437T>A | CA381974011 | KCNE3 | c.127A>T (p.Thr43Ser) c.259A>T (p.Thr87Ser) | |
| 11 | g.74457437T>C | CA381974012 | KCNE3 | c.127A>G (p.Thr43Ala) c.259A>G (p.Thr87Ala) | gnomAD v4 |
| 11 | g.74457437T>G | CA381974013 | KCNE3 | c.127A>C (p.Thr43Pro) c.259A>C (p.Thr87Pro) | |
| 11 | g.74457438C>A | CA6184852 | KCNE3 | c.126G>T (p.Gln42His) c.258G>T (p.Gln86His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.74457438C= | CA1982893314 | KCNE3 | c.126G= (p.Gln42=) c.258G= (p.Gln86=) | |
| 11 | g.74457438C>G | CA381974014 | KCNE3 | c.126G>C (p.Gln42His) c.258G>C (p.Gln86His) | dbSNP gnomAD v4 |
| 11 | g.74457438C>T | CA475888107 | KCNE3 | c.126G>A (p.Gln42=) c.258G>A (p.Gln86=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.74457439T>A | CA381974015 | KCNE3 | c.125A>T (p.Gln42Leu) c.257A>T (p.Gln86Leu) | |
| 11 | g.74457439T>C | CA381974016 | KCNE3 | c.125A>G (p.Gln42Arg) c.257A>G (p.Gln86Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.74457439T>G | CA381974017 | KCNE3 | c.125A>C (p.Gln42Pro) c.257A>C (p.Gln86Pro) | |
| 11 | g.74457439T= | CA1982893315 | KCNE3 | c.125A= (p.Gln42=) c.257A= (p.Gln86=) | |
| 11 | g.74457440G>A | CA381974018 | KCNE3 | c.124C>T (p.Gln42Ter) c.256C>T (p.Gln86Ter) | |
| 11 | g.74457440G>C | CA381974019 | KCNE3 | c.124C>G (p.Gln42Glu) c.256C>G (p.Gln86Glu) | |
| 11 | g.74457440G>T | CA381974020 | KCNE3 | c.124C>A (p.Gln42Lys) c.256C>A (p.Gln86Lys) | |
| 11 | g.74457441G>A | CA475888108 | KCNE3 | c.123C>T (p.Asn41=) c.255C>T (p.Asn85=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.74457441G>C | CA381974022 | KCNE3 | c.123C>G (p.Asn41Lys) c.255C>G (p.Asn85Lys) | |
| 11 | g.74457441G= | CA1982893316 | KCNE3 | c.123C= (p.Asn41=) c.255C= (p.Asn85=) | |
| 11 | g.74457441G>T | CA381974021 | KCNE3 | c.123C>A (p.Asn41Lys) c.255C>A (p.Asn85Lys) | |
| 11 | g.74457442T>A | CA381974023 | KCNE3 | c.122A>T (p.Asn41Ile) c.254A>T (p.Asn85Ile) | |
| 11 | g.74457442T>C | CA381974024 | KCNE3 | c.122A>G (p.Asn41Ser) c.254A>G (p.Asn85Ser) | |
| 11 | g.74457442T>G | CA6184853 | KCNE3 | c.122A>C (p.Asn41Thr) c.254A>C (p.Asn85Thr) | dbSNP ExAC gnomAD v2 |
| 11 | g.74457442T= | CA1982893317 | KCNE3 | c.122A= (p.Asn41=) c.254A= (p.Asn85=) | |
| 11 | g.74457443T>A | CA381974025 | KCNE3 | c.121A>T (p.Asn41Tyr) c.253A>T (p.Asn85Tyr) | |
| 11 | g.74457443T>C | CA381974026 | KCNE3 | c.121A>G (p.Asn41Asp) c.253A>G (p.Asn85Asp) | gnomAD v4 |
| 11 | g.74457443T>G | CA381974027 | KCNE3 | c.121A>C (p.Asn41His) c.253A>C (p.Asn85His) | |
| 11 | g.74457444G>A | CA475888110 | KCNE3 | c.120C>T (p.Asp40=) c.252C>T (p.Asp84=) | |
| 11 | g.74457444G>C | CA6184854 | KCNE3 | c.120C>G (p.Asp40Glu) c.252C>G (p.Asp84Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457444G= | CA1982893318 | KCNE3 | c.120C= (p.Asp40=) c.252C= (p.Asp84=) | |
| 11 | g.74457444G>T | CA381974028 | KCNE3 | c.120C>A (p.Asp40Glu) c.252C>A (p.Asp84Glu) | gnomAD v4 |
| 11 | g.74457445T>A | CA381974029 | KCNE3 | c.119A>T (p.Asp40Val) c.251A>T (p.Asp84Val) | |
| 11 | g.74457445T>C | CA381974030 | KCNE3 | c.119A>G (p.Asp40Gly) c.251A>G (p.Asp84Gly) | |
| 11 | g.74457445T>G | CA381974031 | KCNE3 | c.119A>C (p.Asp40Ala) c.251A>C (p.Asp84Ala) | |
| 11 | g.74457445_74457457delinsTCTGGCCCCAGCC | CA1982893319 | KCNE3 | c.107_119delinsGGCTGGGGCCAGA (p.Gly36=) c.239_251delinsGGCTGGGGCCAGA (p.Gly80=) | |
| 11 | g.74457446C>A | CA381974033 | KCNE3 | c.118G>T (p.Asp40Tyr) c.250G>T (p.Asp84Tyr) | |
| 11 | g.74457446C>G | CA381974034 | KCNE3 | c.118G>C (p.Asp40His) c.250G>C (p.Asp84His) | gnomAD v4 |
| 11 | g.74457446C>T | CA381974032 | KCNE3 | c.118G>A (p.Asp40Asn) c.250G>A (p.Asp84Asn) | |
| 11 | g.74457446_74457448delinsCTG | CA1982893321 | KCNE3 | c.116_118delinsCAG (p.Pro39=) c.248_250delinsCAG (p.Pro83=) | |
| 11 | g.74457453_74457464del | CA1982893320 | KCNE3 | c.107_118del (p.Gly36_Pro39del) c.239_250del (p.Gly80_Pro83del) | dbSNP |
| 11 | g.74457447T>A | CA475888112 | KCNE3 | c.117A>T (p.Pro39=) c.249A>T (p.Pro83=) | |
| 11 | g.74457447T>C | CA475888113 | KCNE3 | c.117A>G (p.Pro39=) c.249A>G (p.Pro83=) | ClinVar dbSNP |
| 11 | g.74457447T>G | CA475888114 | KCNE3 | c.117A>C (p.Pro39=) c.249A>C (p.Pro83=) | |
| 11 | g.74457447T= | CA1982893323 | KCNE3 | c.117A= (p.Pro39=) c.249A= (p.Pro83=) | |
| 11 | g.74457447_74457448del | CA1982893322 | KCNE3 | c.116_117del (p.Pro39ArgfsTer5) c.248_249del (p.Pro83ArgfsTer5) | dbSNP |
| 11 | g.74457448G>A | CA381974035 | KCNE3 | c.116C>T (p.Pro39Leu) c.248C>T (p.Pro83Leu) | |
| 11 | g.74457448G>C | CA6184855 | KCNE3 | c.116C>G (p.Pro39Arg) c.248C>G (p.Pro83Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457448G= | CA1982893324 | KCNE3 | c.116C= (p.Pro39=) c.248C= (p.Pro83=) | |
| 11 | g.74457448G>T | CA381974036 | KCNE3 | c.116C>A (p.Pro39Gln) c.248C>A (p.Pro83Gln) | |
| 11 | g.74457449G>A | CA381974037 | KCNE3 | c.115C>T (p.Pro39Ser) c.247C>T (p.Pro83Ser) | ClinVar dbSNP |
| 11 | g.74457449G>C | CA381974038 | KCNE3 | c.115C>G (p.Pro39Ala) c.247C>G (p.Pro83Ala) | |
| 11 | g.74457449G= | CA1982893325 | KCNE3 | c.115C= (p.Pro39=) c.247C= (p.Pro83=) | |
| 11 | g.74457449G>T | CA381974039 | KCNE3 | c.115C>A (p.Pro39Thr) c.247C>A (p.Pro83Thr) | |
| 11 | g.74457450C>A | CA475888120 | KCNE3 | c.114G>T (p.Gly38=) c.246G>T (p.Gly82=) | |
| 11 | g.74457450C>G | CA475888116 | KCNE3 | c.114G>C (p.Gly38=) c.246G>C (p.Gly82=) | |
| 11 | g.74457450C>T | CA475888118 | KCNE3 | c.114G>A (p.Gly38=) c.246G>A (p.Gly82=) | |
| 11 | g.74457453dup | CA6184856 | KCNE3 | c.114dup (p.Pro39AlafsTer6) c.246dup (p.Pro83AlafsTer6) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.74457451C>A | CA381974040 | KCNE3 | c.113G>T (p.Gly38Val) c.245G>T (p.Gly82Val) | |
| 11 | g.74457451C= | CA1982893326 | KCNE3 | c.113G= (p.Gly38=) c.245G= (p.Gly82=) | |
| 11 | g.74457451C>G | CA381974041 | KCNE3 | c.113G>C (p.Gly38Ala) c.245G>C (p.Gly82Ala) | |
| 11 | g.74457451C>T | CA6184857 | KCNE3 | c.113G>A (p.Gly38Glu) c.245G>A (p.Gly82Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457452C>A | CA381974042 | KCNE3 | c.112G>T (p.Gly38Trp) c.244G>T (p.Gly82Trp) | |
| 11 | g.74457452C>G | CA381974043 | KCNE3 | c.112G>C (p.Gly38Arg) c.244G>C (p.Gly82Arg) | |
| 11 | g.74457452C>T | CA381974044 | KCNE3 | c.112G>A (p.Gly38Arg) c.244G>A (p.Gly82Arg) | gnomAD v4 |
| 11 | g.74457453C>A | CA475888122 | KCNE3 | c.111G>T (p.Leu37=) c.243G>T (p.Leu81=) | |
| 11 | g.74457453C= | CA1982893327 | KCNE3 | c.111G= (p.Leu37=) c.243G= (p.Leu81=) | |
| 11 | g.74457453C>G | CA475888123 | KCNE3 | c.111G>C (p.Leu37=) c.243G>C (p.Leu81=) | dbSNP |
| 11 | g.74457453C>T | CA475888124 | KCNE3 | c.111G>A (p.Leu37=) c.243G>A (p.Leu81=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.74457454A= | CA1982893328 | KCNE3 | c.110T= (p.Leu37=) c.242T= (p.Leu81=) | |
| 11 | g.74457454A>C | CA381974045 | KCNE3 | c.110T>G (p.Leu37Arg) c.242T>G (p.Leu81Arg) | dbSNP |
| 11 | g.74457454A>G | CA381974047 | KCNE3 | c.110T>C (p.Leu37Pro) c.242T>C (p.Leu81Pro) | |
| 11 | g.74457454A>T | CA381974046 | KCNE3 | c.110T>A (p.Leu37Gln) c.242T>A (p.Leu81Gln) | |
| 11 | g.74457455G>A | CA475888128 | KCNE3 | c.109C>T (p.Leu37=) c.241C>T (p.Leu81=) | |
| 11 | g.74457455G>C | CA381974048 | KCNE3 | c.109C>G (p.Leu37Val) c.241C>G (p.Leu81Val) | |
| 11 | g.74457455G>T | CA381974049 | KCNE3 | c.109C>A (p.Leu37Met) c.241C>A (p.Leu81Met) | |
| 11 | g.74457456C>A | CA475888129 | KCNE3 | c.108G>T (p.Gly36=) c.240G>T (p.Gly80=) | |
| 11 | g.74457456C= | CA1982893329 | KCNE3 | c.108G= (p.Gly36=) c.240G= (p.Gly80=) | |
| 11 | g.74457456C>G | CA475888130 | KCNE3 | c.108G>C (p.Gly36=) c.240G>C (p.Gly80=) | |
| 11 | g.74457456C>T | CA475888131 | KCNE3 | c.108G>A (p.Gly36=) c.240G>A (p.Gly80=) | dbSNP |
| 11 | g.74457457C>A | CA381974050 | KCNE3 | c.107G>T (p.Gly36Val) c.239G>T (p.Gly80Val) | |
| 11 | g.74457457C= | CA1982893330 | KCNE3 | c.107G= (p.Gly36=) c.239G= (p.Gly80=) | |
| 11 | g.74457457C>G | CA381974051 | KCNE3 | c.107G>C (p.Gly36Ala) c.239G>C (p.Gly80Ala) | |
| 11 | g.74457457C>T | CA381974052 | KCNE3 | c.107G>A (p.Gly36Glu) c.239G>A (p.Gly80Glu) | dbSNP gnomAD v4 |
| 11 | g.74457458C>A | CA381974053 | KCNE3 | c.106G>T (p.Gly36Trp) c.238G>T (p.Gly80Trp) | |
| 11 | g.74457458C>G | CA381974054 | KCNE3 | c.106G>C (p.Gly36Arg) c.238G>C (p.Gly80Arg) | |
| 11 | g.74457458C>T | CA381974055 | KCNE3 | c.106G>A (p.Gly36Arg) c.238G>A (p.Gly80Arg) | |
| 11 | g.74457459T>A | CA475888132 | KCNE3 | c.105A>T (p.Pro35=) c.237A>T (p.Pro79=) | |
| 11 | g.74457459T>C | CA475888134 | KCNE3 | c.105A>G (p.Pro35=) c.237A>G (p.Pro79=) | dbSNP |
| 11 | g.74457459T>G | CA475888135 | KCNE3 | c.105A>C (p.Pro35=) c.237A>C (p.Pro79=) | |
| 11 | g.74457459T= | CA1982893331 | KCNE3 | c.105A= (p.Pro35=) c.237A= (p.Pro79=) | |
| 11 | g.74457460G>A | CA6184858 | KCNE3 | c.104C>T (p.Pro35Leu) c.236C>T (p.Pro79Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.74457460G>C | CA381974056 | KCNE3 | c.104C>G (p.Pro35Arg) c.236C>G (p.Pro79Arg) | |
| 11 | g.74457460G= | CA1982893332 | KCNE3 | c.104C= (p.Pro35=) c.236C= (p.Pro79=) | |
| 11 | g.74457460G>T | CA381974057 | KCNE3 | c.104C>A (p.Pro35Gln) c.236C>A (p.Pro79Gln) | |
| 11 | g.74457461del | CA2825002043 | KCNE3 | c.104del (p.Pro35GlnfsTer?) c.236del (p.Pro79GlnfsTer?) | ClinVar |
| 11 | g.74457461G>A | CA381974060 | KCNE3 | c.103C>T (p.Pro35Ser) c.235C>T (p.Pro79Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.74457461G>C | CA381974059 | KCNE3 | c.103C>G (p.Pro35Ala) c.235C>G (p.Pro79Ala) | |
| 11 | g.74457461G= | CA1982893333 | KCNE3 | c.103C= (p.Pro35=) c.235C= (p.Pro79=) | |
| 11 | g.74457461G>T | CA381974058 | KCNE3 | c.103C>A (p.Pro35Thr) c.235C>A (p.Pro79Thr) | |
| 11 | g.74457462C>A | CA475888137 | KCNE3 | c.102G>T (p.Gly34=) c.234G>T (p.Gly78=) | |
| 11 | g.74457462C>G | CA475888138 | KCNE3 | c.102G>C (p.Gly34=) c.234G>C (p.Gly78=) | |
| 11 | g.74457462C>T | CA475888139 | KCNE3 | c.102G>A (p.Gly34=) c.234G>A (p.Gly78=) | |
| 11 | g.74457463C>A | CA381974061 | KCNE3 | c.101G>T (p.Gly34Val) c.233G>T (p.Gly78Val) | |
| 11 | g.74457463C>G | CA381974063 | KCNE3 | c.101G>C (p.Gly34Ala) c.233G>C (p.Gly78Ala) | |
| 11 | g.74457463C>T | CA381974062 | KCNE3 | c.101G>A (p.Gly34Glu) c.233G>A (p.Gly78Glu) | gnomAD v4 |