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.128839739G>A | CA6357505 | KCNJ1 | c.505C>T (p.Arg169Cys) c.562C>T (p.Arg188Cys) c.556C>T (p.Arg186Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839739G>C | CA383244870 | KCNJ1 | c.505C>G (p.Arg169Gly) c.562C>G (p.Arg188Gly) c.556C>G (p.Arg186Gly) | |
| 11 | g.128839739G= | CA2008250977 | KCNJ1 | c.505C= (p.Arg169=) c.562C= (p.Arg188=) c.556C= (p.Arg186=) | |
| 11 | g.128839739G>T | CA6357506 | KCNJ1 | c.505C>A (p.Arg169Ser) c.562C>A (p.Arg188Ser) c.556C>A (p.Arg186Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839739_128839740delinsGT | CA2008250980 | KCNJ1 | c.504_505delinsAC (p.Lys168=) c.561_562delinsAC (p.Lys187=) c.555_556delinsAC (p.Lys185=) | |
| 11 | g.128839740T>A | CA383244871 | KCNJ1 | c.504A>T (p.Lys168Asn) c.561A>T (p.Lys187Asn) c.555A>T (p.Lys185Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839740T>C | CA477703356 | KCNJ1 | c.504A>G (p.Lys168=) c.561A>G (p.Lys187=) c.555A>G (p.Lys185=) | |
| 11 | g.128839740T>G | CA383244872 | KCNJ1 | c.504A>C (p.Lys168Asn) c.561A>C (p.Lys187Asn) c.555A>C (p.Lys185Asn) | |
| 11 | g.128839740T= | CA2008250991 | KCNJ1 | c.504A= (p.Lys168=) c.561A= (p.Lys187=) c.555A= (p.Lys185=) | |
| 11 | g.128839745dup | CA6357507 | KCNJ1 | c.504dup (p.Arg169ThrfsTer28) c.561dup (p.Arg188ThrfsTer28) c.555dup (p.Arg186ThrfsTer28) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839745del | CA673266863 | KCNJ1 | c.504del (p.Lys168AsnfsTer13) c.561del (p.Lys187AsnfsTer13) c.555del (p.Lys185AsnfsTer13) | ClinVar dbSNP gnomAD v4 |
| 11 | g.128839741T>A | CA383244875 | KCNJ1 | c.503A>T (p.Lys168Ile) c.560A>T (p.Lys187Ile) c.554A>T (p.Lys185Ile) | |
| 11 | g.128839741T>C | CA383244874 | KCNJ1 | c.503A>G (p.Lys168Arg) c.560A>G (p.Lys187Arg) c.554A>G (p.Lys185Arg) | |
| 11 | g.128839741T>G | CA383244873 | KCNJ1 | c.503A>C (p.Lys168Thr) c.560A>C (p.Lys187Thr) c.554A>C (p.Lys185Thr) | |
| 11 | g.128839742T>A | CA383244876 | KCNJ1 | c.502A>T (p.Lys168Ter) c.559A>T (p.Lys187Ter) c.553A>T (p.Lys185Ter) | |
| 11 | g.128839742T>C | CA383244877 | KCNJ1 | c.502A>G (p.Lys168Glu) c.559A>G (p.Lys187Glu) c.553A>G (p.Lys185Glu) | gnomAD v4 |
| 11 | g.128839742T>G | CA383244878 | KCNJ1 | c.502A>C (p.Lys168Gln) c.559A>C (p.Lys187Gln) c.553A>C (p.Lys185Gln) | |
| 11 | g.128839743T>A | CA6357508 | KCNJ1 | c.501A>T (p.Lys167Asn) c.558A>T (p.Lys186Asn) c.552A>T (p.Lys184Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839743T>C | CA477703359 | KCNJ1 | c.501A>G (p.Lys167=) c.558A>G (p.Lys186=) c.552A>G (p.Lys184=) | |
| 11 | g.128839743T>G | CA383244879 | KCNJ1 | c.501A>C (p.Lys167Asn) c.558A>C (p.Lys186Asn) c.552A>C (p.Lys184Asn) | |
| 11 | g.128839743T= | CA2008251003 | KCNJ1 | c.501A= (p.Lys167=) c.558A= (p.Lys186=) c.552A= (p.Lys184=) | |
| 11 | g.128839744T>A | CA383244880 | KCNJ1 | c.500A>T (p.Lys167Ile) c.557A>T (p.Lys186Ile) c.551A>T (p.Lys184Ile) | |
| 11 | g.128839744T>C | CA383244881 | KCNJ1 | c.500A>G (p.Lys167Arg) c.557A>G (p.Lys186Arg) c.551A>G (p.Lys184Arg) | |
| 11 | g.128839744T>G | CA383244882 | KCNJ1 | c.500A>C (p.Lys167Thr) c.557A>C (p.Lys186Thr) c.551A>C (p.Lys184Thr) | |
| 11 | g.128839745T>A | CA383244883 | KCNJ1 | c.499A>T (p.Lys167Ter) c.556A>T (p.Lys186Ter) c.550A>T (p.Lys184Ter) | ClinVar |
| 11 | g.128839745T>C | CA6357509 | KCNJ1 | c.499A>G (p.Lys167Glu) c.556A>G (p.Lys186Glu) c.550A>G (p.Lys184Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839745T>G | CA383244884 | KCNJ1 | c.499A>C (p.Lys167Gln) c.556A>C (p.Lys186Gln) c.550A>C (p.Lys184Gln) | |
| 11 | g.128839745T= | CA2008251004 | KCNJ1 | c.499A= (p.Lys167=) c.556A= (p.Lys186=) c.550A= (p.Lys184=) | |
| 11 | g.128839746G>A | CA477703362 | KCNJ1 | c.498C>T (p.Pro166=) c.555C>T (p.Pro185=) c.549C>T (p.Pro183=) | |
| 11 | g.128839746G>C | CA6357510 | KCNJ1 | c.498C>G (p.Pro166=) c.555C>G (p.Pro185=) c.549C>G (p.Pro183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839746G= | CA2008251009 | KCNJ1 | c.498C= (p.Pro166=) c.555C= (p.Pro185=) c.549C= (p.Pro183=) | |
| 11 | g.128839746G>T | CA477703360 | KCNJ1 | c.498C>A (p.Pro166=) c.555C>A (p.Pro185=) c.549C>A (p.Pro183=) | |
| 11 | g.128839747G>A | CA383244886 | KCNJ1 | c.497C>T (p.Pro166Leu) c.554C>T (p.Pro185Leu) c.548C>T (p.Pro183Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.128839747G>C | CA383244887 | KCNJ1 | c.497C>G (p.Pro166Arg) c.554C>G (p.Pro185Arg) c.548C>G (p.Pro183Arg) | |
| 11 | g.128839747G= | CA2008251014 | KCNJ1 | c.497C= (p.Pro166=) c.554C= (p.Pro185=) c.548C= (p.Pro183=) | |
| 11 | g.128839747G>T | CA383244885 | KCNJ1 | c.497C>A (p.Pro166His) c.554C>A (p.Pro185His) c.548C>A (p.Pro183His) | |
| 11 | g.128839748G>A | CA6357511 | KCNJ1 | c.496C>T (p.Pro166Ser) c.553C>T (p.Pro185Ser) c.547C>T (p.Pro183Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839748G>C | CA383244888 | KCNJ1 | c.496C>G (p.Pro166Ala) c.553C>G (p.Pro185Ala) c.547C>G (p.Pro183Ala) | |
| 11 | g.128839748G= | CA2008251017 | KCNJ1 | c.496C= (p.Pro166=) c.553C= (p.Pro185=) c.547C= (p.Pro183=) | |
| 11 | g.128839748G>T | CA383244889 | KCNJ1 | c.496C>A (p.Pro166Thr) c.553C>A (p.Pro185Thr) c.547C>A (p.Pro183Thr) | |
| 11 | g.128839749C>A | CA383244890 | KCNJ1 | c.495G>T (p.Arg165Ser) c.552G>T (p.Arg184Ser) c.546G>T (p.Arg182Ser) | |
| 11 | g.128839749C= | CA2008251019 | KCNJ1 | c.495G= (p.Arg165=) c.552G= (p.Arg184=) c.546G= (p.Arg182=) | |
| 11 | g.128839749C>G | CA230628611 | KCNJ1 | c.495G>C (p.Arg165Ser) c.552G>C (p.Arg184Ser) c.546G>C (p.Arg182Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839749C>T | CA477703364 | KCNJ1 | c.495G>A (p.Arg165=) c.552G>A (p.Arg184=) c.546G>A (p.Arg182=) | |
| 11 | g.128839750C>A | CA383244891 | KCNJ1 | c.494G>T (p.Arg165Met) c.551G>T (p.Arg184Met) c.545G>T (p.Arg182Met) | |
| 11 | g.128839750C>G | CA383244892 | KCNJ1 | c.494G>C (p.Arg165Thr) c.551G>C (p.Arg184Thr) c.545G>C (p.Arg182Thr) | |
| 11 | g.128839750C>T | CA383244893 | KCNJ1 | c.494G>A (p.Arg165Lys) c.551G>A (p.Arg184Lys) c.545G>A (p.Arg182Lys) | |
| 11 | g.128839751del | CA2573130334 | KCNJ1 | c.493del (p.Arg165GlyfsTer16) c.550del (p.Arg184GlyfsTer16) c.544del (p.Arg182GlyfsTer16) | |
| 11 | g.128839751T>A | CA383244894 | KCNJ1 | c.493A>T (p.Arg165Trp) c.550A>T (p.Arg184Trp) c.544A>T (p.Arg182Trp) | |
| 11 | g.128839751T>C | CA6357512 | KCNJ1 | c.493A>G (p.Arg165Gly) c.550A>G (p.Arg184Gly) c.544A>G (p.Arg182Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839751T>G | CA477703365 | KCNJ1 | c.493A>C (p.Arg165=) c.550A>C (p.Arg184=) c.544A>C (p.Arg182=) | |
| 11 | g.128839751T= | CA2008251023 | KCNJ1 | c.493A= (p.Arg165=) c.550A= (p.Arg184=) c.544A= (p.Arg182=) | |
| 11 | g.128839752G>A | CA477703369 | KCNJ1 | c.492C>T (p.Ser164=) c.549C>T (p.Ser183=) c.543C>T (p.Ser181=) | |
| 11 | g.128839752G>C | CA477703370 | KCNJ1 | c.492C>G (p.Ser164=) c.549C>G (p.Ser183=) c.543C>G (p.Ser181=) | |
| 11 | g.128839752G>T | CA477703372 | KCNJ1 | c.492C>A (p.Ser164=) c.549C>A (p.Ser183=) c.543C>A (p.Ser181=) | |
| 11 | g.128839752_128839756del | CA2794083166 | KCNJ1 | c.488_492del (p.Ile163LysfsTer?) c.545_549del (p.Ile182LysfsTer?) c.539_543del (p.Ile180LysfsTer?) | |
| 11 | g.128839753G>A | CA383244895 | KCNJ1 | c.491C>T (p.Ser164Phe) c.548C>T (p.Ser183Phe) c.542C>T (p.Ser181Phe) | |
| 11 | g.128839753G>C | CA383244896 | KCNJ1 | c.491C>G (p.Ser164Cys) c.548C>G (p.Ser183Cys) c.542C>G (p.Ser181Cys) | gnomAD v4 COSMIC |
| 11 | g.128839753G>T | CA383244897 | KCNJ1 | c.491C>A (p.Ser164Tyr) c.548C>A (p.Ser183Tyr) c.542C>A (p.Ser181Tyr) | |
| 11 | g.128839754A>C | CA383244900 | KCNJ1 | c.490T>G (p.Ser164Ala) c.547T>G (p.Ser183Ala) c.541T>G (p.Ser181Ala) | |
| 11 | g.128839754A>G | CA383244899 | KCNJ1 | c.490T>C (p.Ser164Pro) c.547T>C (p.Ser183Pro) c.541T>C (p.Ser181Pro) | |
| 11 | g.128839754A>T | CA383244898 | KCNJ1 | c.490T>A (p.Ser164Thr) c.547T>A (p.Ser183Thr) c.541T>A (p.Ser181Thr) | |
| 11 | g.128839755G>A | CA477703373 | KCNJ1 | c.489C>T (p.Ile163=) c.546C>T (p.Ile182=) c.540C>T (p.Ile180=) | |
| 11 | g.128839755G>C | CA383244901 | KCNJ1 | c.489C>G (p.Ile163Met) c.546C>G (p.Ile182Met) c.540C>G (p.Ile180Met) | |
| 11 | g.128839755G>T | CA477703375 | KCNJ1 | c.489C>A (p.Ile163=) c.546C>A (p.Ile182=) c.540C>A (p.Ile180=) | |
| 11 | g.128839756A>C | CA383244902 | KCNJ1 | c.488T>G (p.Ile163Ser) c.545T>G (p.Ile182Ser) c.539T>G (p.Ile180Ser) | |
| 11 | g.128839756A>G | CA383244903 | KCNJ1 | c.488T>C (p.Ile163Thr) c.545T>C (p.Ile182Thr) c.539T>C (p.Ile180Thr) | |
| 11 | g.128839756A>T | CA383244904 | KCNJ1 | c.488T>A (p.Ile163Asn) c.545T>A (p.Ile182Asn) c.539T>A (p.Ile180Asn) | gnomAD v4 |
| 11 | g.128839757T>A | CA383244905 | KCNJ1 | c.487A>T (p.Ile163Phe) c.544A>T (p.Ile182Phe) c.538A>T (p.Ile180Phe) | |
| 11 | g.128839757T>C | CA383244906 | KCNJ1 | c.487A>G (p.Ile163Val) c.544A>G (p.Ile182Val) c.538A>G (p.Ile180Val) | |
| 11 | g.128839757T>G | CA383244907 | KCNJ1 | c.487A>C (p.Ile163Leu) c.544A>C (p.Ile182Leu) c.538A>C (p.Ile180Leu) | dbSNP |
| 11 | g.128839757T= | CA2008251030 | KCNJ1 | c.487A= (p.Ile163=) c.544A= (p.Ile182=) c.538A= (p.Ile180=) | |
| 11 | g.128839758C>A | CA383244908 | KCNJ1 | c.486G>T (p.Lys162Asn) c.543G>T (p.Lys181Asn) c.537G>T (p.Lys179Asn) | |
| 11 | g.128839758C>G | CA383244909 | KCNJ1 | c.486G>C (p.Lys162Asn) c.543G>C (p.Lys181Asn) c.537G>C (p.Lys179Asn) | |
| 11 | g.128839758C>T | CA477703379 | KCNJ1 | c.486G>A (p.Lys162=) c.543G>A (p.Lys181=) c.537G>A (p.Lys179=) | ClinVar |
| 11 | g.128839758_128839759delinsCT | CA2008251033 | KCNJ1 | c.485_486delinsAG (p.Lys162=) c.542_543delinsAG (p.Lys181=) c.536_537delinsAG (p.Lys179=) | |
| 11 | g.128839759T>A | CA383244910 | KCNJ1 | c.485A>T (p.Lys162Met) c.542A>T (p.Lys181Met) c.536A>T (p.Lys179Met) | |
| 11 | g.128839759T>C | CA383244911 | KCNJ1 | c.485A>G (p.Lys162Arg) c.542A>G (p.Lys181Arg) c.536A>G (p.Lys179Arg) | |
| 11 | g.128839759T>G | CA383244912 | KCNJ1 | c.485A>C (p.Lys162Thr) c.542A>C (p.Lys181Thr) c.536A>C (p.Lys179Thr) | |
| 11 | g.128839760del | CA6357513 | KCNJ1 | c.485del (p.Lys162ArgfsTer19) c.542del (p.Lys181ArgfsTer19) c.536del (p.Lys179ArgfsTer19) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839760T>A | CA383244915 | KCNJ1 | c.484A>T (p.Lys162Ter) c.541A>T (p.Lys181Ter) c.535A>T (p.Lys179Ter) | |
| 11 | g.128839760T>C | CA383244914 | KCNJ1 | c.484A>G (p.Lys162Glu) c.541A>G (p.Lys181Glu) c.535A>G (p.Lys179Glu) | |
| 11 | g.128839760T>G | CA383244913 | KCNJ1 | c.484A>C (p.Lys162Gln) c.541A>C (p.Lys181Gln) c.535A>C (p.Lys179Gln) | gnomAD v4 |
| 11 | g.128839761G>A | CA477703384 | KCNJ1 | c.483C>T (p.Ala161=) c.540C>T (p.Ala180=) c.534C>T (p.Ala178=) | |
| 11 | g.128839761G>C | CA477703382 | KCNJ1 | c.483C>G (p.Ala161=) c.540C>G (p.Ala180=) c.534C>G (p.Ala178=) | |
| 11 | g.128839761G>T | CA477703383 | KCNJ1 | c.483C>A (p.Ala161=) c.540C>A (p.Ala180=) c.534C>A (p.Ala178=) | |
| 11 | g.128839762G>A | CA383244916 | KCNJ1 | c.482C>T (p.Ala161Val) c.539C>T (p.Ala180Val) c.533C>T (p.Ala178Val) | dbSNP |
| 11 | g.128839762G>C | CA383244918 | KCNJ1 | c.482C>G (p.Ala161Gly) c.539C>G (p.Ala180Gly) c.533C>G (p.Ala178Gly) | |
| 11 | g.128839762G= | CA2008251040 | KCNJ1 | c.482C= (p.Ala161=) c.539C= (p.Ala180=) c.533C= (p.Ala178=) | |
| 11 | g.128839762G>T | CA383244917 | KCNJ1 | c.482C>A (p.Ala161Asp) c.539C>A (p.Ala180Asp) c.533C>A (p.Ala178Asp) | |
| 11 | g.128839763C>A | CA383244919 | KCNJ1 | c.481G>T (p.Ala161Ser) c.538G>T (p.Ala180Ser) c.532G>T (p.Ala178Ser) | |
| 11 | g.128839763C= | CA2008251044 | KCNJ1 | c.481G= (p.Ala161=) c.538G= (p.Ala180=) c.532G= (p.Ala178=) | |
| 11 | g.128839763C>G | CA383244920 | KCNJ1 | c.481G>C (p.Ala161Pro) c.538G>C (p.Ala180Pro) c.532G>C (p.Ala178Pro) | |
| 11 | g.128839763C>T | CA6357514 | KCNJ1 | c.481G>A (p.Ala161Thr) c.538G>A (p.Ala180Thr) c.532G>A (p.Ala178Thr) | dbSNP ExAC gnomAD v2 |
| 11 | g.128839764T>A | CA383244921 | KCNJ1 | c.480A>T (p.Leu160Phe) c.537A>T (p.Leu179Phe) c.531A>T (p.Leu177Phe) | gnomAD v4 |
| 11 | g.128839764T>C | CA477703387 | KCNJ1 | c.480A>G (p.Leu160=) c.537A>G (p.Leu179=) c.531A>G (p.Leu177=) | |
| 11 | g.128839764T>G | CA383244922 | KCNJ1 | c.480A>C (p.Leu160Phe) c.537A>C (p.Leu179Phe) c.531A>C (p.Leu177Phe) | |
| 11 | g.128839765A>C | CA383244923 | KCNJ1 | c.479T>G (p.Leu160Ter) c.536T>G (p.Leu179Ter) c.530T>G (p.Leu177Ter) | |
| 11 | g.128839765A>G | CA383244924 | KCNJ1 | c.479T>C (p.Leu160Ser) c.536T>C (p.Leu179Ser) c.530T>C (p.Leu177Ser) | |
| 11 | g.128839765A>T | CA383244925 | KCNJ1 | c.479T>A (p.Leu160Ter) c.536T>A (p.Leu179Ter) c.530T>A (p.Leu177Ter) | |
| 11 | g.128839766A>C | CA383244926 | KCNJ1 | c.478T>G (p.Leu160Val) c.535T>G (p.Leu179Val) c.529T>G (p.Leu177Val) | |
| 11 | g.128839766A>G | CA477703389 | KCNJ1 | c.478T>C (p.Leu160=) c.535T>C (p.Leu179=) c.529T>C (p.Leu177=) | |
| 11 | g.128839766A>T | CA383244927 | KCNJ1 | c.478T>A (p.Leu160Ile) c.535T>A (p.Leu179Ile) c.529T>A (p.Leu177Ile) | |
| 11 | g.128839767G>A | CA477703390 | KCNJ1 | c.477C>T (p.Ile159=) c.534C>T (p.Ile178=) c.528C>T (p.Ile176=) | |
| 11 | g.128839767G>C | CA383244928 | KCNJ1 | c.477C>G (p.Ile159Met) c.534C>G (p.Ile178Met) c.528C>G (p.Ile176Met) | |
| 11 | g.128839767G>T | CA477703391 | KCNJ1 | c.477C>A (p.Ile159=) c.534C>A (p.Ile178=) c.528C>A (p.Ile176=) | |
| 11 | g.128839768A>C | CA383244929 | KCNJ1 | c.476T>G (p.Ile159Ser) c.533T>G (p.Ile178Ser) c.527T>G (p.Ile176Ser) | |
| 11 | g.128839768A>G | CA383244930 | KCNJ1 | c.476T>C (p.Ile159Thr) c.533T>C (p.Ile178Thr) c.527T>C (p.Ile176Thr) | |
| 11 | g.128839768A>T | CA383244931 | KCNJ1 | c.476T>A (p.Ile159Asn) c.533T>A (p.Ile178Asn) c.527T>A (p.Ile176Asn) | |
| 11 | g.128839769T>A | CA383244934 | KCNJ1 | c.475A>T (p.Ile159Phe) c.532A>T (p.Ile178Phe) c.526A>T (p.Ile176Phe) | |
| 11 | g.128839769T>C | CA383244933 | KCNJ1 | c.475A>G (p.Ile159Val) c.532A>G (p.Ile178Val) c.526A>G (p.Ile176Val) | dbSNP gnomAD v4 |
| 11 | g.128839769T>G | CA383244932 | KCNJ1 | c.475A>C (p.Ile159Leu) c.532A>C (p.Ile178Leu) c.526A>C (p.Ile176Leu) | |
| 11 | g.128839769T= | CA2008251047 | KCNJ1 | c.475A= (p.Ile159=) c.532A= (p.Ile178=) c.526A= (p.Ile176=) | |
| 11 | g.128839769_128839770del | CA2794083167 | KCNJ1 | c.474_475del (p.Ile159LeufsTer?) c.531_532del (p.Ile178LeufsTer?) c.525_526del (p.Ile176LeufsTer?) | |
| 11 | g.128839770G>A | CA477703396 | KCNJ1 | c.474C>T (p.Ala158=) c.531C>T (p.Ala177=) c.525C>T (p.Ala175=) | gnomAD v4 |
| 11 | g.128839770G>C | CA477703398 | KCNJ1 | c.474C>G (p.Ala158=) c.531C>G (p.Ala177=) c.525C>G (p.Ala175=) | |
| 11 | g.128839770G= | CA2008251050 | KCNJ1 | c.474C= (p.Ala158=) c.531C= (p.Ala177=) c.525C= (p.Ala175=) | |
| 11 | g.128839770G>T | CA477703399 | KCNJ1 | c.474C>A (p.Ala158=) c.531C>A (p.Ala177=) c.525C>A (p.Ala175=) | dbSNP |
| 11 | g.128839771G>A | CA383244935 | KCNJ1 | c.473C>T (p.Ala158Val) c.530C>T (p.Ala177Val) c.524C>T (p.Ala175Val) | |
| 11 | g.128839771G>C | CA383244936 | KCNJ1 | c.473C>G (p.Ala158Gly) c.530C>G (p.Ala177Gly) c.524C>G (p.Ala175Gly) | |
| 11 | g.128839771G>T | CA383244937 | KCNJ1 | c.473C>A (p.Ala158Asp) c.530C>A (p.Ala177Asp) c.524C>A (p.Ala175Asp) | |
| 11 | g.128839772C>A | CA6357515 | KCNJ1 | c.472G>T (p.Ala158Ser) c.529G>T (p.Ala177Ser) c.523G>T (p.Ala175Ser) | dbSNP ExAC gnomAD v2 COSMIC |
| 11 | g.128839772C= | CA2008251053 | KCNJ1 | c.472G= (p.Ala158=) c.529G= (p.Ala177=) c.523G= (p.Ala175=) | |
| 11 | g.128839772C>G | CA383244939 | KCNJ1 | c.472G>C (p.Ala158Pro) c.529G>C (p.Ala177Pro) c.523G>C (p.Ala175Pro) | |
| 11 | g.128839772C>T | CA383244941 | KCNJ1 | c.472G>A (p.Ala158Thr) c.529G>A (p.Ala177Thr) c.523G>A (p.Ala175Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.128839775dup | CA2575025049 | KCNJ1 | c.472dup (p.Ala158GlyfsTer?) c.529dup (p.Ala177GlyfsTer?) c.523dup (p.Ala175GlyfsTer?) | |
| 11 | g.128839773C>A | CA477703403 | KCNJ1 | c.471G>T (p.Gly157=) c.528G>T (p.Gly176=) c.522G>T (p.Gly174=) | |
| 11 | g.128839773C>G | CA477703404 | KCNJ1 | c.471G>C (p.Gly157=) c.528G>C (p.Gly176=) c.522G>C (p.Gly174=) | |
| 11 | g.128839773C>T | CA477703405 | KCNJ1 | c.471G>A (p.Gly157=) c.528G>A (p.Gly176=) c.522G>A (p.Gly174=) | gnomAD v4 COSMIC |
| 11 | g.128839773_128839783del | CA2794083168 | KCNJ1 | c.461_471del (p.Phe154CysfsTer?) c.518_528del (p.Phe173CysfsTer?) c.512_522del (p.Phe171CysfsTer?) | |
| 11 | g.128839774C>A | CA383244943 | KCNJ1 | c.470G>T (p.Gly157Val) c.527G>T (p.Gly176Val) c.521G>T (p.Gly174Val) | |
| 11 | g.128839774C>G | CA383244945 | KCNJ1 | c.470G>C (p.Gly157Ala) c.527G>C (p.Gly176Ala) c.521G>C (p.Gly174Ala) | |
| 11 | g.128839774C>T | CA383244946 | KCNJ1 | c.470G>A (p.Gly157Glu) c.527G>A (p.Gly176Glu) c.521G>A (p.Gly174Glu) | |
| 11 | g.128839775C>A | CA383244949 | KCNJ1 | c.469G>T (p.Gly157Trp) c.526G>T (p.Gly176Trp) c.520G>T (p.Gly174Trp) | |
| 11 | g.128839775C>G | CA383244950 | KCNJ1 | c.469G>C (p.Gly157Arg) c.526G>C (p.Gly176Arg) c.520G>C (p.Gly174Arg) | |
| 11 | g.128839775C>T | CA383244951 | KCNJ1 | c.469G>A (p.Gly157Arg) c.526G>A (p.Gly176Arg) c.520G>A (p.Gly174Arg) | |
| 11 | g.128839776A>C | CA383244954 | KCNJ1 | c.468T>G (p.Cys156Trp) c.525T>G (p.Cys175Trp) c.519T>G (p.Cys173Trp) | |
| 11 | g.128839776A>G | CA477703407 | KCNJ1 | c.468T>C (p.Cys156=) c.525T>C (p.Cys175=) c.519T>C (p.Cys173=) | gnomAD v4 |
| 11 | g.128839776A>T | CA383244955 | KCNJ1 | c.468T>A (p.Cys156Ter) c.525T>A (p.Cys175Ter) c.519T>A (p.Cys173Ter) | |
| 11 | g.128839777C>A | CA383244957 | KCNJ1 | c.467G>T (p.Cys156Phe) c.524G>T (p.Cys175Phe) c.518G>T (p.Cys173Phe) | |
| 11 | g.128839777C>G | CA383244959 | KCNJ1 | c.467G>C (p.Cys156Ser) c.524G>C (p.Cys175Ser) c.518G>C (p.Cys173Ser) | |
| 11 | g.128839777C>T | CA383244960 | KCNJ1 | c.467G>A (p.Cys156Tyr) c.524G>A (p.Cys175Tyr) c.518G>A (p.Cys173Tyr) | |
| 11 | g.128839778A>C | CA383244962 | KCNJ1 | c.466T>G (p.Cys156Gly) c.523T>G (p.Cys175Gly) c.517T>G (p.Cys173Gly) | |
| 11 | g.128839778A>G | CA383244964 | KCNJ1 | c.466T>C (p.Cys156Arg) c.523T>C (p.Cys175Arg) c.517T>C (p.Cys173Arg) | |
| 11 | g.128839778A>T | CA383244965 | KCNJ1 | c.466T>A (p.Cys156Ser) c.523T>A (p.Cys175Ser) c.517T>A (p.Cys173Ser) | |
| 11 | g.128839779C>A | CA6357516 | KCNJ1 | c.465G>T (p.Met155Ile) c.522G>T (p.Met174Ile) c.516G>T (p.Met172Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839779C= | CA2008251061 | KCNJ1 | c.465G= (p.Met155=) c.522G= (p.Met174=) c.516G= (p.Met172=) | |
| 11 | g.128839779C>G | CA383244969 | KCNJ1 | c.465G>C (p.Met155Ile) c.522G>C (p.Met174Ile) c.516G>C (p.Met172Ile) | |
| 11 | g.128839779C>T | CA6357517 | KCNJ1 | c.465G>A (p.Met155Ile) c.522G>A (p.Met174Ile) c.516G>A (p.Met172Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839780A= | CA2008251065 | KCNJ1 | c.464T= (p.Met155=) c.521T= (p.Met174=) c.515T= (p.Met172=) | |
| 11 | g.128839780A>C | CA383244971 | KCNJ1 | c.464T>G (p.Met155Arg) c.521T>G (p.Met174Arg) c.515T>G (p.Met172Arg) | |
| 11 | g.128839780A>G | CA230628631 | KCNJ1 | c.464T>C (p.Met155Thr) c.521T>C (p.Met174Thr) c.515T>C (p.Met172Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839780A>T | CA383244973 | KCNJ1 | c.464T>A (p.Met155Lys) c.521T>A (p.Met174Lys) c.515T>A (p.Met172Lys) | |
| 11 | g.128839781T>A | CA383244979 | KCNJ1 | c.463A>T (p.Met155Leu) c.520A>T (p.Met174Leu) c.514A>T (p.Met172Leu) | |
| 11 | g.128839781T>C | CA383244976 | KCNJ1 | c.463A>G (p.Met155Val) c.520A>G (p.Met174Val) c.514A>G (p.Met172Val) | dbSNP |
| 11 | g.128839781T>G | CA383244978 | KCNJ1 | c.463A>C (p.Met155Leu) c.520A>C (p.Met174Leu) c.514A>C (p.Met172Leu) | gnomAD v4 |
| 11 | g.128839781T= | CA2008251067 | KCNJ1 | c.463A= (p.Met155=) c.520A= (p.Met174=) c.514A= (p.Met172=) | |
| 11 | g.128839782G>A | CA477703413 | KCNJ1 | c.462C>T (p.Phe154=) c.519C>T (p.Phe173=) c.513C>T (p.Phe171=) | COSMIC |
| 11 | g.128839782G>C | CA383244981 | KCNJ1 | c.462C>G (p.Phe154Leu) c.519C>G (p.Phe173Leu) c.513C>G (p.Phe171Leu) | COSMIC |
| 11 | g.128839782G= | CA2008251073 | KCNJ1 | c.462C= (p.Phe154=) c.519C= (p.Phe173=) c.513C= (p.Phe171=) | |
| 11 | g.128839782G>T | CA6357518 | KCNJ1 | c.462C>A (p.Phe154Leu) c.519C>A (p.Phe173Leu) c.513C>A (p.Phe171Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839783A>C | CA383244984 | KCNJ1 | c.461T>G (p.Phe154Cys) c.518T>G (p.Phe173Cys) c.512T>G (p.Phe171Cys) | |
| 11 | g.128839783A>G | CA383244986 | KCNJ1 | c.461T>C (p.Phe154Ser) c.518T>C (p.Phe173Ser) c.512T>C (p.Phe171Ser) | |
| 11 | g.128839783A>T | CA383244988 | KCNJ1 | c.461T>A (p.Phe154Tyr) c.518T>A (p.Phe173Tyr) c.512T>A (p.Phe171Tyr) | |
| 11 | g.128839784A>C | CA383244990 | KCNJ1 | c.460T>G (p.Phe154Val) c.517T>G (p.Phe173Val) c.511T>G (p.Phe171Val) | COSMIC |
| 11 | g.128839784A>G | CA383244992 | KCNJ1 | c.460T>C (p.Phe154Leu) c.517T>C (p.Phe173Leu) c.511T>C (p.Phe171Leu) | |
| 11 | g.128839784A>T | CA383244993 | KCNJ1 | c.460T>A (p.Phe154Ile) c.517T>A (p.Phe173Ile) c.511T>A (p.Phe171Ile) | |
| 11 | g.128839785A>C | CA477703415 | KCNJ1 | c.459T>G (p.Ser153=) c.516T>G (p.Ser172=) c.510T>G (p.Ser170=) | |
| 11 | g.128839785A>G | CA477703416 | KCNJ1 | c.459T>C (p.Ser153=) c.516T>C (p.Ser172=) c.510T>C (p.Ser170=) | |
| 11 | g.128839785A>T | CA477703418 | KCNJ1 | c.459T>A (p.Ser153=) c.516T>A (p.Ser172=) c.510T>A (p.Ser170=) | |
| 11 | g.128839786G>A | CA383244995 | KCNJ1 | c.458C>T (p.Ser153Phe) c.515C>T (p.Ser172Phe) c.509C>T (p.Ser170Phe) | |
| 11 | g.128839786G>C | CA383244997 | KCNJ1 | c.458C>G (p.Ser153Cys) c.515C>G (p.Ser172Cys) c.509C>G (p.Ser170Cys) | |
| 11 | g.128839786G>T | CA383244999 | KCNJ1 | c.458C>A (p.Ser153Tyr) c.515C>A (p.Ser172Tyr) c.509C>A (p.Ser170Tyr) | gnomAD v4 COSMIC |
| 11 | g.128839786_128839787insGCT | CA2794083169 | KCNJ1 | c.457_458insAGC (p.Ser153Ter) c.514_515insAGC (p.Ser172Ter) c.508_509insAGC (p.Ser170Ter) | |
| 11 | g.128839787A>C | CA383245005 | KCNJ1 | c.457T>G (p.Ser153Ala) c.514T>G (p.Ser172Ala) c.508T>G (p.Ser170Ala) | |
| 11 | g.128839787A>G | CA383245004 | KCNJ1 | c.457T>C (p.Ser153Pro) c.514T>C (p.Ser172Pro) c.508T>C (p.Ser170Pro) | |
| 11 | g.128839787A>T | CA383245002 | KCNJ1 | c.457T>A (p.Ser153Thr) c.514T>A (p.Ser172Thr) c.508T>A (p.Ser170Thr) | |
| 11 | g.128839788A>C | CA383245006 | KCNJ1 | c.456T>G (p.Asn152Lys) c.513T>G (p.Asn171Lys) c.507T>G (p.Asn169Lys) | |
| 11 | g.128839788A>G | CA477703424 | KCNJ1 | c.456T>C (p.Asn152=) c.513T>C (p.Asn171=) c.507T>C (p.Asn169=) | |
| 11 | g.128839788A>T | CA383245008 | KCNJ1 | c.456T>A (p.Asn152Lys) c.513T>A (p.Asn171Lys) c.507T>A (p.Asn169Lys) | |
| 11 | g.128839789T>A | CA383245010 | KCNJ1 | c.455A>T (p.Asn152Ile) c.512A>T (p.Asn171Ile) c.506A>T (p.Asn169Ile) | |
| 11 | g.128839789T>C | CA383245011 | KCNJ1 | c.455A>G (p.Asn152Ser) c.512A>G (p.Asn171Ser) c.506A>G (p.Asn169Ser) | |
| 11 | g.128839789T>G | CA383245012 | KCNJ1 | c.455A>C (p.Asn152Thr) c.512A>C (p.Asn171Thr) c.506A>C (p.Asn169Thr) | |
| 11 | g.128839790T>A | CA383245014 | KCNJ1 | c.454A>T (p.Asn152Tyr) c.511A>T (p.Asn171Tyr) c.505A>T (p.Asn169Tyr) | |
| 11 | g.128839790T>C | CA383245016 | KCNJ1 | c.454A>G (p.Asn152Asp) c.511A>G (p.Asn171Asp) c.505A>G (p.Asn169Asp) | |
| 11 | g.128839790T>G | CA383245017 | KCNJ1 | c.454A>C (p.Asn152His) c.511A>C (p.Asn171His) c.505A>C (p.Asn169His) | |
| 11 | g.128839790_128839798del | CA2794083170 | KCNJ1 | c.446_454del (p.Val149_Asn152delinsAsp) c.503_511del (p.Val168_Asn171delinsAsp) c.497_505del (p.Val166_Asn169delinsAsp) | |
| 11 | g.128839791G>A | CA477703430 | KCNJ1 | c.453C>T (p.Ile151=) c.510C>T (p.Ile170=) c.504C>T (p.Ile168=) | |
| 11 | g.128839791G>C | CA383245019 | KCNJ1 | c.453C>G (p.Ile151Met) c.510C>G (p.Ile170Met) c.504C>G (p.Ile168Met) | gnomAD v4 |
| 11 | g.128839791G= | CA2008251077 | KCNJ1 | c.453C= (p.Ile151=) c.510C= (p.Ile170=) c.504C= (p.Ile168=) | |
| 11 | g.128839791G>T | CA477703428 | KCNJ1 | c.453C>A (p.Ile151=) c.510C>A (p.Ile170=) c.504C>A (p.Ile168=) | dbSNP |
| 11 | g.128839792A>C | CA383245020 | KCNJ1 | c.452T>G (p.Ile151Ser) c.509T>G (p.Ile170Ser) c.503T>G (p.Ile168Ser) | |
| 11 | g.128839792A>G | CA383245022 | KCNJ1 | c.452T>C (p.Ile151Thr) c.509T>C (p.Ile170Thr) c.503T>C (p.Ile168Thr) | |
| 11 | g.128839792A>T | CA383245023 | KCNJ1 | c.452T>A (p.Ile151Asn) c.509T>A (p.Ile170Asn) c.503T>A (p.Ile168Asn) | |
| 11 | g.128839793T>A | CA383245025 | KCNJ1 | c.451A>T (p.Ile151Phe) c.508A>T (p.Ile170Phe) c.502A>T (p.Ile168Phe) | |
| 11 | g.128839793T>C | CA6357519 | KCNJ1 | c.451A>G (p.Ile151Val) c.508A>G (p.Ile170Val) c.502A>G (p.Ile168Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839793T>G | CA383245027 | KCNJ1 | c.451A>C (p.Ile151Leu) c.508A>C (p.Ile170Leu) c.502A>C (p.Ile168Leu) | |
| 11 | g.128839793T= | CA2008251082 | KCNJ1 | c.451A= (p.Ile151=) c.508A= (p.Ile170=) c.502A= (p.Ile168=) | |
| 11 | g.128839794T>A | CA477703433 | KCNJ1 | c.450A>T (p.Ile150=) c.507A>T (p.Ile169=) c.501A>T (p.Ile167=) | |
| 11 | g.128839794T>C | CA383245029 | KCNJ1 | c.450A>G (p.Ile150Met) c.507A>G (p.Ile169Met) c.501A>G (p.Ile167Met) | |
| 11 | g.128839794T>G | CA477703434 | KCNJ1 | c.450A>C (p.Ile150=) c.507A>C (p.Ile169=) c.501A>C (p.Ile167=) | gnomAD v4 |
| 11 | g.128839795A= | CA2008251087 | KCNJ1 | c.449T= (p.Ile150=) c.506T= (p.Ile169=) c.500T= (p.Ile167=) | |
| 11 | g.128839795A>C | CA383245032 | KCNJ1 | c.449T>G (p.Ile150Arg) c.506T>G (p.Ile169Arg) c.500T>G (p.Ile167Arg) | |
| 11 | g.128839795A>G | CA383245033 | KCNJ1 | c.449T>C (p.Ile150Thr) c.506T>C (p.Ile169Thr) c.500T>C (p.Ile167Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.128839795A>T | CA383245034 | KCNJ1 | c.449T>A (p.Ile150Lys) c.506T>A (p.Ile169Lys) c.500T>A (p.Ile167Lys) | |
| 11 | g.128839796T>A | CA383245037 | KCNJ1 | c.448A>T (p.Ile150Leu) c.505A>T (p.Ile169Leu) c.499A>T (p.Ile167Leu) | |
| 11 | g.128839796T>C | CA6357520 | KCNJ1 | c.448A>G (p.Ile150Val) c.505A>G (p.Ile169Val) c.499A>G (p.Ile167Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839796T>G | CA383245039 | KCNJ1 | c.448A>C (p.Ile150Leu) c.505A>C (p.Ile169Leu) c.499A>C (p.Ile167Leu) | |
| 11 | g.128839796T= | CA2008251092 | KCNJ1 | c.448A= (p.Ile150=) c.505A= (p.Ile169=) c.499A= (p.Ile167=) | |
| 11 | g.128839797A= | CA2008251095 | KCNJ1 | c.447T= (p.Val149=) c.504T= (p.Val168=) c.498T= (p.Val166=) | |
| 11 | g.128839797A>C | CA477703443 | KCNJ1 | c.447T>G (p.Val149=) c.504T>G (p.Val168=) c.498T>G (p.Val166=) | dbSNP |
| 11 | g.128839797A>G | CA477703444 | KCNJ1 | c.447T>C (p.Val149=) c.504T>C (p.Val168=) c.498T>C (p.Val166=) | |
| 11 | g.128839797A>T | CA477703445 | KCNJ1 | c.447T>A (p.Val149=) c.504T>A (p.Val168=) c.498T>A (p.Val166=) | |
| 11 | g.128839798A>C | CA383245041 | KCNJ1 | c.446T>G (p.Val149Gly) c.503T>G (p.Val168Gly) c.497T>G (p.Val166Gly) | |
| 11 | g.128839798A>G | CA383245043 | KCNJ1 | c.446T>C (p.Val149Ala) c.503T>C (p.Val168Ala) c.497T>C (p.Val166Ala) | |
| 11 | g.128839798A>T | CA383245044 | KCNJ1 | c.446T>A (p.Val149Asp) c.503T>A (p.Val168Asp) c.497T>A (p.Val166Asp) | |
| 11 | g.128839799C>A | CA383245045 | KCNJ1 | c.445G>T (p.Val149Phe) c.502G>T (p.Val168Phe) c.496G>T (p.Val166Phe) | |
| 11 | g.128839799C= | CA2008251097 | KCNJ1 | c.445G= (p.Val149=) c.502G= (p.Val168=) c.496G= (p.Val166=) | |
| 11 | g.128839799C>G | CA383245046 | KCNJ1 | c.445G>C (p.Val149Leu) c.502G>C (p.Val168Leu) c.496G>C (p.Val166Leu) | |
| 11 | g.128839799C>T | CA383245047 | KCNJ1 | c.445G>A (p.Val149Ile) c.502G>A (p.Val168Ile) c.496G>A (p.Val166Ile) | dbSNP COSMIC |
| 11 | g.128839800T>A | CA477703447 | KCNJ1 | c.444A>T (p.Gly148=) c.501A>T (p.Gly167=) c.495A>T (p.Gly165=) | |
| 11 | g.128839800T>C | CA477703449 | KCNJ1 | c.444A>G (p.Gly148=) c.501A>G (p.Gly167=) c.495A>G (p.Gly165=) | |
| 11 | g.128839800T>G | CA477703450 | KCNJ1 | c.444A>C (p.Gly148=) c.501A>C (p.Gly167=) c.495A>C (p.Gly165=) | |
| 11 | g.128839801C>A | CA383245052 | KCNJ1 | c.443G>T (p.Gly148Val) c.500G>T (p.Gly167Val) c.494G>T (p.Gly165Val) | |
| 11 | g.128839801C= | CA2008251103 | KCNJ1 | c.443G= (p.Gly148=) c.500G= (p.Gly167=) c.494G= (p.Gly165=) | |
| 11 | g.128839801C>G | CA383245050 | KCNJ1 | c.443G>C (p.Gly148Ala) c.500G>C (p.Gly167Ala) c.494G>C (p.Gly165Ala) | |
| 11 | g.128839801C>T | CA120160 | KCNJ1 | c.443G>A (p.Gly148Glu) c.500G>A (p.Gly167Glu) c.494G>A (p.Gly165Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839802C>A | CA383245053 | KCNJ1 | c.442G>T (p.Gly148Ter) c.499G>T (p.Gly167Ter) c.493G>T (p.Gly165Ter) | |
| 11 | g.128839802C>G | CA383245054 | KCNJ1 | c.442G>C (p.Gly148Arg) c.499G>C (p.Gly167Arg) c.493G>C (p.Gly165Arg) | |
| 11 | g.128839802C>T | CA383245056 | KCNJ1 | c.442G>A (p.Gly148Arg) c.499G>A (p.Gly167Arg) c.493G>A (p.Gly165Arg) | COSMIC |
| 11 | g.128839802_128839814delinsCAAGTATAGACTG | CA2008251107 | KCNJ1 | c.430_442delinsCAGTCTATACTTG (p.Gln144=) c.487_499delinsCAGTCTATACTTG (p.Gln163=) c.481_493delinsCAGTCTATACTTG (p.Gln161=) | |
| 11 | g.128839803A>C | CA477703453 | KCNJ1 | c.441T>G (p.Leu147=) c.498T>G (p.Leu166=) c.492T>G (p.Leu164=) | |
| 11 | g.128839803A>G | CA477703454 | KCNJ1 | c.441T>C (p.Leu147=) c.498T>C (p.Leu166=) c.492T>C (p.Leu164=) | |
| 11 | g.128839803A>T | CA477703456 | KCNJ1 | c.441T>A (p.Leu147=) c.498T>A (p.Leu166=) c.492T>A (p.Leu164=) | |
| 11 | g.128839805_128839816del | CA602585820 | KCNJ1 | c.430_441del (p.Gln144_Leu147del) c.487_498del (p.Gln163_Leu166del) c.481_492del (p.Gln161_Leu164del) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839804A>C | CA383245058 | KCNJ1 | c.440T>G (p.Leu147Arg) c.497T>G (p.Leu166Arg) c.491T>G (p.Leu164Arg) | |
| 11 | g.128839804A>G | CA383245060 | KCNJ1 | c.440T>C (p.Leu147Pro) c.497T>C (p.Leu166Pro) c.491T>C (p.Leu164Pro) | |
| 11 | g.128839804A>T | CA383245061 | KCNJ1 | c.440T>A (p.Leu147His) c.497T>A (p.Leu166His) c.491T>A (p.Leu164His) | |
| 11 | g.128839805G>A | CA6357521 | KCNJ1 | c.439C>T (p.Leu147Phe) c.496C>T (p.Leu166Phe) c.490C>T (p.Leu164Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839805G>C | CA383245064 | KCNJ1 | c.439C>G (p.Leu147Val) c.496C>G (p.Leu166Val) c.490C>G (p.Leu164Val) | |
| 11 | g.128839805G= | CA2008251115 | KCNJ1 | c.439C= (p.Leu147=) c.496C= (p.Leu166=) c.490C= (p.Leu164=) | |
| 11 | g.128839805G>T | CA383245066 | KCNJ1 | c.439C>A (p.Leu147Ile) c.496C>A (p.Leu166Ile) c.490C>A (p.Leu164Ile) | |
| 11 | g.128839806T>A | CA477703460 | KCNJ1 | c.438A>T (p.Ile146=) c.495A>T (p.Ile165=) c.489A>T (p.Ile163=) | gnomAD v4 |
| 11 | g.128839806T>C | CA383245068 | KCNJ1 | c.438A>G (p.Ile146Met) c.495A>G (p.Ile165Met) c.489A>G (p.Ile163Met) | gnomAD v4 |
| 11 | g.128839806T>G | CA477703461 | KCNJ1 | c.438A>C (p.Ile146=) c.495A>C (p.Ile165=) c.489A>C (p.Ile163=) | |
| 11 | g.128839807A= | CA2008251120 | KCNJ1 | c.437T= (p.Ile146=) c.494T= (p.Ile165=) c.488T= (p.Ile163=) | |
| 11 | g.128839807A>C | CA383245073 | KCNJ1 | c.437T>G (p.Ile146Arg) c.494T>G (p.Ile165Arg) c.488T>G (p.Ile163Arg) | |
| 11 | g.128839807A>G | CA383245074 | KCNJ1 | c.437T>C (p.Ile146Thr) c.494T>C (p.Ile165Thr) c.488T>C (p.Ile163Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839807A>T | CA383245075 | KCNJ1 | c.437T>A (p.Ile146Lys) c.494T>A (p.Ile165Lys) c.488T>A (p.Ile163Lys) | |
| 11 | g.128839808T>A | CA383245080 | KCNJ1 | c.436A>T (p.Ile146Leu) c.493A>T (p.Ile165Leu) c.487A>T (p.Ile163Leu) | |
| 11 | g.128839808T>C | CA383245076 | KCNJ1 | c.436A>G (p.Ile146Val) c.493A>G (p.Ile165Val) c.487A>G (p.Ile163Val) | gnomAD v4 |
| 11 | g.128839808T>G | CA383245078 | KCNJ1 | c.436A>C (p.Ile146Leu) c.493A>C (p.Ile165Leu) c.487A>C (p.Ile163Leu) | |
| 11 | g.128839809A= | CA2008251125 | KCNJ1 | c.435T= (p.Ser145=) c.492T= (p.Ser164=) c.486T= (p.Ser162=) | |
| 11 | g.128839809A>C | CA477703464 | KCNJ1 | c.435T>G (p.Ser145=) c.492T>G (p.Ser164=) c.486T>G (p.Ser162=) | |
| 11 | g.128839809A>G | CA477703465 | KCNJ1 | c.435T>C (p.Ser145=) c.492T>C (p.Ser164=) c.486T>C (p.Ser162=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839809A>T | CA477703466 | KCNJ1 | c.435T>A (p.Ser145=) c.492T>A (p.Ser164=) c.486T>A (p.Ser162=) | |
| 11 | g.128839810G>A | CA383245082 | KCNJ1 | c.434C>T (p.Ser145Phe) c.491C>T (p.Ser164Phe) c.485C>T (p.Ser162Phe) | dbSNP |
| 11 | g.128839810G>C | CA383245084 | KCNJ1 | c.434C>G (p.Ser145Cys) c.491C>G (p.Ser164Cys) c.485C>G (p.Ser162Cys) | |
| 11 | g.128839810G= | CA2008251131 | KCNJ1 | c.434C= (p.Ser145=) c.491C= (p.Ser164=) c.485C= (p.Ser162=) | |
| 11 | g.128839810G>T | CA383245090 | KCNJ1 | c.434C>A (p.Ser145Tyr) c.491C>A (p.Ser164Tyr) c.485C>A (p.Ser162Tyr) | |
| 11 | g.128839811A= | CA2008251134 | KCNJ1 | c.433T= (p.Ser145=) c.490T= (p.Ser164=) c.484T= (p.Ser162=) | |
| 11 | g.128839811A>C | CA383245094 | KCNJ1 | c.433T>G (p.Ser145Ala) c.490T>G (p.Ser164Ala) c.484T>G (p.Ser162Ala) | |
| 11 | g.128839811A>G | CA230628677 | KCNJ1 | c.433T>C (p.Ser145Pro) c.490T>C (p.Ser164Pro) c.484T>C (p.Ser162Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839811A>T | CA383245102 | KCNJ1 | c.433T>A (p.Ser145Thr) c.490T>A (p.Ser164Thr) c.484T>A (p.Ser162Thr) | |
| 11 | g.128839812C>A | CA230628690 | KCNJ1 | c.432G>T (p.Gln144His) c.489G>T (p.Gln163His) c.483G>T (p.Gln161His) | dbSNP gnomAD v4 |
| 11 | g.128839812C= | CA2008251139 | KCNJ1 | c.432G= (p.Gln144=) c.489G= (p.Gln163=) c.483G= (p.Gln161=) | |
| 11 | g.128839812C>G | CA383245106 | KCNJ1 | c.432G>C (p.Gln144His) c.489G>C (p.Gln163His) c.483G>C (p.Gln161His) | |
| 11 | g.128839812C>T | CA6357522 | KCNJ1 | c.432G>A (p.Gln144=) c.489G>A (p.Gln163=) c.483G>A (p.Gln161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839813T>A | CA383245116 | KCNJ1 | c.431A>T (p.Gln144Leu) c.488A>T (p.Gln163Leu) c.482A>T (p.Gln161Leu) | |
| 11 | g.128839813T>C | CA383245119 | KCNJ1 | c.431A>G (p.Gln144Arg) c.488A>G (p.Gln163Arg) c.482A>G (p.Gln161Arg) | |
| 11 | g.128839813T>G | CA383245121 | KCNJ1 | c.431A>C (p.Gln144Pro) c.488A>C (p.Gln163Pro) c.482A>C (p.Gln161Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839813T= | CA2008251143 | KCNJ1 | c.431A= (p.Gln144=) c.488A= (p.Gln163=) c.482A= (p.Gln161=) | |
| 11 | g.128839814G>A | CA383245128 | KCNJ1 | c.430C>T (p.Gln144Ter) c.487C>T (p.Gln163Ter) c.481C>T (p.Gln161Ter) | |
| 11 | g.128839814G>C | CA383245134 | KCNJ1 | c.430C>G (p.Gln144Glu) c.487C>G (p.Gln163Glu) c.481C>G (p.Gln161Glu) | |
| 11 | g.128839814G>T | CA383245126 | KCNJ1 | c.430C>A (p.Gln144Lys) c.487C>A (p.Gln163Lys) c.481C>A (p.Gln161Lys) | |
| 11 | g.128839815A= | CA2008251147 | KCNJ1 | c.429T= (p.Phe143=) c.486T= (p.Phe162=) c.480T= (p.Phe160=) | |
| 11 | g.128839815A>C | CA383245140 | KCNJ1 | c.429T>G (p.Phe143Leu) c.486T>G (p.Phe162Leu) c.480T>G (p.Phe160Leu) | |
| 11 | g.128839815A>G | CA6357523 | KCNJ1 | c.429T>C (p.Phe143=) c.486T>C (p.Phe162=) c.480T>C (p.Phe160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839815A>T | CA383245142 | KCNJ1 | c.429T>A (p.Phe143Leu) c.486T>A (p.Phe162Leu) c.480T>A (p.Phe160Leu) | |
| 11 | g.128839815_128839820delinsAAAGAT | CA2008251151 | KCNJ1 | c.424_429delinsATCTTT (p.Ile142=) c.481_486delinsATCTTT (p.Ile161=) c.475_480delinsATCTTT (p.Ile159=) | |
| 11 | g.128839816A>C | CA383245148 | KCNJ1 | c.428T>G (p.Phe143Cys) c.485T>G (p.Phe162Cys) c.479T>G (p.Phe160Cys) | |
| 11 | g.128839816A>G | CA383245150 | KCNJ1 | c.428T>C (p.Phe143Ser) c.485T>C (p.Phe162Ser) c.479T>C (p.Phe160Ser) | |
| 11 | g.128839816A>T | CA383245152 | KCNJ1 | c.428T>A (p.Phe143Tyr) c.485T>A (p.Phe162Tyr) c.479T>A (p.Phe160Tyr) | |
| 11 | g.128839816_128839820delinsAAGAT | CA2008251158 | KCNJ1 | c.424_428delinsATCTT (p.Ile142=) c.481_485delinsATCTT (p.Ile161=) c.475_479delinsATCTT (p.Ile159=) | |
| 11 | g.128839819_128839823del | CA602585821 | KCNJ1 | c.424_428del (p.Ile142SerfsTer?) c.481_485del (p.Ile161SerfsTer?) c.475_479del (p.Ile159SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839817A>C | CA383245154 | KCNJ1 | c.427T>G (p.Phe143Val) c.484T>G (p.Phe162Val) c.478T>G (p.Phe160Val) | |
| 11 | g.128839817A>G | CA383245158 | KCNJ1 | c.427T>C (p.Phe143Leu) c.484T>C (p.Phe162Leu) c.478T>C (p.Phe160Leu) | |
| 11 | g.128839817A>T | CA383245160 | KCNJ1 | c.427T>A (p.Phe143Ile) c.484T>A (p.Phe162Ile) c.478T>A (p.Phe160Ile) | |
| 11 | g.128839818_128839821del | CA645596350 | KCNJ1 | c.424_427del (p.Ile142PhefsTer8) c.481_484del (p.Ile161PhefsTer8) c.475_478del (p.Ile159PhefsTer8) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.128839818G>A | CA477703478 | KCNJ1 | c.426C>T (p.Ile142=) c.483C>T (p.Ile161=) c.477C>T (p.Ile159=) | |
| 11 | g.128839818G>C | CA383245164 | KCNJ1 | c.426C>G (p.Ile142Met) c.483C>G (p.Ile161Met) c.477C>G (p.Ile159Met) | |
| 11 | g.128839818G>T | CA477703481 | KCNJ1 | c.426C>A (p.Ile142=) c.483C>A (p.Ile161=) c.477C>A (p.Ile159=) | |
| 11 | g.128839819A>C | CA383245170 | KCNJ1 | c.425T>G (p.Ile142Ser) c.482T>G (p.Ile161Ser) c.476T>G (p.Ile159Ser) | |
| 11 | g.128839819A>G | CA383245173 | KCNJ1 | c.425T>C (p.Ile142Thr) c.482T>C (p.Ile161Thr) c.476T>C (p.Ile159Thr) | |
| 11 | g.128839819A>T | CA383245176 | KCNJ1 | c.425T>A (p.Ile142Asn) c.482T>A (p.Ile161Asn) c.476T>A (p.Ile159Asn) | |
| 11 | g.128839820T>A | CA383245191 | KCNJ1 | c.424A>T (p.Ile142Phe) c.481A>T (p.Ile161Phe) c.475A>T (p.Ile159Phe) | |
| 11 | g.128839820T>C | CA383245188 | KCNJ1 | c.424A>G (p.Ile142Val) c.481A>G (p.Ile161Val) c.475A>G (p.Ile159Val) | |
| 11 | g.128839820T>G | CA383245179 | KCNJ1 | c.424A>C (p.Ile142Leu) c.481A>C (p.Ile161Leu) c.475A>C (p.Ile159Leu) | |
| 11 | g.128839821A>C | CA477703485 | KCNJ1 | c.423T>G (p.Leu141=) c.480T>G (p.Leu160=) c.474T>G (p.Leu158=) | |
| 11 | g.128839821A>G | CA477703487 | KCNJ1 | c.423T>C (p.Leu141=) c.480T>C (p.Leu160=) c.474T>C (p.Leu158=) | |
| 11 | g.128839821A>T | CA477703486 | KCNJ1 | c.423T>A (p.Leu141=) c.480T>A (p.Leu160=) c.474T>A (p.Leu158=) | |
| 11 | g.128839822A>C | CA383245192 | KCNJ1 | c.422T>G (p.Leu141Arg) c.479T>G (p.Leu160Arg) c.473T>G (p.Leu158Arg) | |
| 11 | g.128839822A>G | CA383245194 | KCNJ1 | c.422T>C (p.Leu141Pro) c.479T>C (p.Leu160Pro) c.473T>C (p.Leu158Pro) | |
| 11 | g.128839822A>T | CA383245196 | KCNJ1 | c.422T>A (p.Leu141His) c.479T>A (p.Leu160His) c.473T>A (p.Leu158His) | |
| 11 | g.128839823G>A | CA383245198 | KCNJ1 | c.421C>T (p.Leu141Phe) c.478C>T (p.Leu160Phe) c.472C>T (p.Leu158Phe) | |
| 11 | g.128839823G>C | CA383245200 | KCNJ1 | c.421C>G (p.Leu141Val) c.478C>G (p.Leu160Val) c.472C>G (p.Leu158Val) | |
| 11 | g.128839823G>T | CA383245203 | KCNJ1 | c.421C>A (p.Leu141Ile) c.478C>A (p.Leu160Ile) c.472C>A (p.Leu158Ile) | |
| 11 | g.128839824C>A | CA477703488 | KCNJ1 | c.420G>T (p.Leu140=) c.477G>T (p.Leu159=) c.471G>T (p.Leu157=) | COSMIC |
| 11 | g.128839824C>G | CA477703490 | KCNJ1 | c.420G>C (p.Leu140=) c.477G>C (p.Leu159=) c.471G>C (p.Leu157=) | |
| 11 | g.128839824C>T | CA477703492 | KCNJ1 | c.420G>A (p.Leu140=) c.477G>A (p.Leu159=) c.471G>A (p.Leu157=) | |
| 11 | g.128839825A>C | CA383245207 | KCNJ1 | c.419T>G (p.Leu140Arg) c.476T>G (p.Leu159Arg) c.470T>G (p.Leu157Arg) | |
| 11 | g.128839825A>G | CA383245209 | KCNJ1 | c.419T>C (p.Leu140Pro) c.476T>C (p.Leu159Pro) c.470T>C (p.Leu157Pro) | |
| 11 | g.128839825A>T | CA383245211 | KCNJ1 | c.419T>A (p.Leu140Gln) c.476T>A (p.Leu159Gln) c.470T>A (p.Leu157Gln) | |
| 11 | g.128839826G>A | CA6357524 | KCNJ1 | c.418C>T (p.Leu140=) c.418C>T c.475C>T (p.Leu159=) c.469C>T (p.Leu157=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.128839826G>C | CA383245214 | KCNJ1 | c.418C>G (p.Leu140Val) c.418C>G c.475C>G (p.Leu159Val) c.469C>G (p.Leu157Val) | |
| 11 | g.128839826G= | CA2008251165 | KCNJ1 | c.418C= (p.Leu140=) c.418C= c.475C= (p.Leu159=) c.469C= (p.Leu157=) | |
| 11 | g.128839826G>T | CA6357525 | KCNJ1 | c.418C>A (p.Leu140Met) c.418C>A c.475C>A (p.Leu159Met) c.469C>A (p.Leu157Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.128839826_128839828delinsGAA | CA2008251164 | KCNJ1 | c.416_418delinsTTC (p.Phe139=) c.473_475delinsTTC (p.Phe158=) c.467_469delinsTTC (p.Phe156=) | |
| 11 | g.128839827A>C | CA383245229 | KCNJ1 | c.417T>G (p.Phe139Leu) c.474T>G (p.Phe158Leu) c.468T>G (p.Phe156Leu) | |
| 11 | g.128839827A>G | CA477703495 | KCNJ1 | c.417T>C (p.Phe139=) c.474T>C (p.Phe158=) c.468T>C (p.Phe156=) | |
| 11 | g.128839827A>T | CA383245227 | KCNJ1 | c.417T>A (p.Phe139Leu) c.474T>A (p.Phe158Leu) c.468T>A (p.Phe156Leu) | |
| 11 | g.128839830_128839831del | CA6357526 | KCNJ1 | c.416_417del (p.Phe139SerfsTer?) c.416_417del (p.Phe139=) c.473_474del (p.Phe158SerfsTer?) c.467_468del (p.Phe156SerfsTer?) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.128839828A>C | CA383245234 | KCNJ1 | c.416T>G (p.Phe139Cys) c.473T>G (p.Phe158Cys) c.467T>G (p.Phe156Cys) | |
| 11 | g.128839828A>G | CA383245238 | KCNJ1 | c.416T>C (p.Phe139Ser) c.473T>C (p.Phe158Ser) c.467T>C (p.Phe156Ser) | |
| 11 | g.128839828A>T | CA383245236 | KCNJ1 | c.416T>A (p.Phe139Tyr) c.473T>A (p.Phe158Tyr) c.467T>A (p.Phe156Tyr) | |
| 11 | g.128839829A>C | CA383245240 | KCNJ1 | c.415T>G (p.Phe139Val) c.472T>G (p.Phe158Val) c.466T>G (p.Phe156Val) | |
| 11 | g.128839829A>G | CA383245241 | KCNJ1 | c.415T>C (p.Phe139Leu) c.472T>C (p.Phe158Leu) c.466T>C (p.Phe156Leu) | |
| 11 | g.128839829A>T | CA383245242 | KCNJ1 | c.415T>A (p.Phe139Ile) c.472T>A (p.Phe158Ile) c.466T>A (p.Phe156Ile) | |
| 11 | g.128839830A>C | CA383245243 | KCNJ1 | c.414T>G (p.Ile138Met) c.471T>G (p.Ile157Met) c.465T>G (p.Ile155Met) | gnomAD v4 |
| 11 | g.128839830A>G | CA477703500 | KCNJ1 | c.414T>C (p.Ile138=) c.471T>C (p.Ile157=) c.465T>C (p.Ile155=) | |
| 11 | g.128839830A>T | CA477703499 | KCNJ1 | c.414T>A (p.Ile138=) c.471T>A (p.Ile157=) c.465T>A (p.Ile155=) | |
| 11 | g.128839831A= | CA2008251176 | KCNJ1 | c.413T= (p.Ile138=) c.470T= (p.Ile157=) c.464T= (p.Ile155=) | |
| 11 | g.128839831A>C | CA383245244 | KCNJ1 | c.413T>G (p.Ile138Ser) c.470T>G (p.Ile157Ser) c.464T>G (p.Ile155Ser) | |
| 11 | g.128839831A>G | CA383245245 | KCNJ1 | c.413T>C (p.Ile138Thr) c.470T>C (p.Ile157Thr) c.464T>C (p.Ile155Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.128839831A>T | CA383245246 | KCNJ1 | c.413T>A (p.Ile138Asn) c.470T>A (p.Ile157Asn) c.464T>A (p.Ile155Asn) | dbSNP |
| 11 | g.128839832T>A | CA383245247 | KCNJ1 | c.412A>T (p.Ile138Phe) c.469A>T (p.Ile157Phe) c.463A>T (p.Ile155Phe) | |
| 11 | g.128839832T>C | CA383245249 | KCNJ1 | c.412A>G (p.Ile138Val) c.469A>G (p.Ile157Val) c.463A>G (p.Ile155Val) | dbSNP gnomAD v4 |
| 11 | g.128839832T>G | CA383245251 | KCNJ1 | c.412A>C (p.Ile138Leu) c.469A>C (p.Ile157Leu) c.463A>C (p.Ile155Leu) | |
| 11 | g.128839832T= | CA2008251181 | KCNJ1 | c.412A= (p.Ile138=) c.469A= (p.Ile157=) c.463A= (p.Ile155=) | |
| 11 | g.128839833G>A | CA6357527 | KCNJ1 | c.411C>T (p.Ala137=) c.468C>T (p.Ala156=) c.462C>T (p.Ala154=) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.128839833G>C | CA477703504 | KCNJ1 | c.411C>G (p.Ala137=) c.468C>G (p.Ala156=) c.462C>G (p.Ala154=) | |
| 11 | g.128839833G= | CA2008251189 | KCNJ1 | c.411C= (p.Ala137=) c.468C= (p.Ala156=) c.462C= (p.Ala154=) | |
| 11 | g.128839833G>T | CA477703505 | KCNJ1 | c.411C>A (p.Ala137=) c.468C>A (p.Ala156=) c.462C>A (p.Ala154=) | |
| 11 | g.128839834G>A | CA383245262 | KCNJ1 | c.410C>T (p.Ala137Val) c.467C>T (p.Ala156Val) c.461C>T (p.Ala154Val) | |
| 11 | g.128839834G>C | CA383245259 | KCNJ1 | c.410C>G (p.Ala137Gly) c.467C>G (p.Ala156Gly) c.461C>G (p.Ala154Gly) | |
| 11 | g.128839834G= | CA2008251192 | KCNJ1 | c.410C= (p.Ala137=) c.467C= (p.Ala156=) c.461C= (p.Ala154=) | |
| 11 | g.128839834G>T | CA383245258 | KCNJ1 | c.410C>A (p.Ala137Asp) c.467C>A (p.Ala156Asp) c.461C>A (p.Ala154Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.128839835C>A | CA383245268 | KCNJ1 | c.409G>T (p.Ala137Ser) c.466G>T (p.Ala156Ser) c.460G>T (p.Ala154Ser) | gnomAD v4 |
| 11 | g.128839835C>G | CA383245271 | KCNJ1 | c.409G>C (p.Ala137Pro) c.466G>C (p.Ala156Pro) c.460G>C (p.Ala154Pro) | |
| 11 | g.128839835C>T | CA383245274 | KCNJ1 | c.409G>A (p.Ala137Thr) c.466G>A (p.Ala156Thr) c.460G>A (p.Ala154Thr) | gnomAD v4 |
| 11 | g.128839836A>C | CA477703509 | KCNJ1 | c.408T>G (p.Thr136=) c.465T>G (p.Thr155=) c.459T>G (p.Thr153=) | |
| 11 | g.128839836A>G | CA477703510 | KCNJ1 | c.408T>C (p.Thr136=) c.465T>C (p.Thr155=) c.459T>C (p.Thr153=) | |
| 11 | g.128839836A>T | CA477703511 | KCNJ1 | c.408T>A (p.Thr136=) c.465T>A (p.Thr155=) c.459T>A (p.Thr153=) | |
| 11 | g.128839837G>A | CA383245276 | KCNJ1 | c.407C>T (p.Thr136Ile) c.464C>T (p.Thr155Ile) c.458C>T (p.Thr153Ile) | dbSNP |
| 11 | g.128839837G>C | CA383245277 | KCNJ1 | c.407C>G (p.Thr136Ser) c.464C>G (p.Thr155Ser) c.458C>G (p.Thr153Ser) | |
| 11 | g.128839837G= | CA2008251194 | KCNJ1 | c.407C= (p.Thr136=) c.464C= (p.Thr155=) c.458C= (p.Thr153=) | |
| 11 | g.128839837G>T | CA383245278 | KCNJ1 | c.407C>A (p.Thr136Asn) c.464C>A (p.Thr155Asn) c.458C>A (p.Thr153Asn) | |
| 11 | g.128839837_128839850delinsGTGGCACACTGTTC | CA2008251196 | KCNJ1 | c.394_407delinsGAACAGTGTGCCAC (p.Glu132=) c.451_464delinsGAACAGTGTGCCAC (p.Glu151=) c.445_458delinsGAACAGTGTGCCAC (p.Glu149=) | |
| 11 | g.128839838T>A | CA383245287 | KCNJ1 | c.406A>T (p.Thr136Ser) c.463A>T (p.Thr155Ser) c.457A>T (p.Thr153Ser) | |
| 11 | g.128839838T>C | CA383245281 | KCNJ1 | c.406A>G (p.Thr136Ala) c.463A>G (p.Thr155Ala) c.457A>G (p.Thr153Ala) | |
| 11 | g.128839838T>G | CA383245284 | KCNJ1 | c.406A>C (p.Thr136Pro) c.463A>C (p.Thr155Pro) c.457A>C (p.Thr153Pro) | gnomAD v4 |
| 11 | g.128839840_128839852del | CA2008251197 | KCNJ1 | c.394_406del (p.Glu132LeufsTer15) c.394_406del (p.Glu132LeufsTer?) c.451_463del (p.Glu151LeufsTer15) c.445_457del (p.Glu149LeufsTer15) | dbSNP |
| 11 | g.128839839G>A | CA477703512 | KCNJ1 | c.405C>T (p.Ala135=) c.462C>T (p.Ala154=) c.456C>T (p.Ala152=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.128839839G>C | CA477703513 | KCNJ1 | c.405C>G (p.Ala135=) c.462C>G (p.Ala154=) c.456C>G (p.Ala152=) | |
| 11 | g.128839839G= | CA2008251198 | KCNJ1 | c.405C= (p.Ala135=) c.462C= (p.Ala154=) c.456C= (p.Ala152=) | |
| 11 | g.128839839G>T | CA477703514 | KCNJ1 | c.405C>A (p.Ala135=) c.462C>A (p.Ala154=) c.456C>A (p.Ala152=) |