Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.160042183C>A | CA343228170 | KCNJ10 | c.322G>T n.95-2835G>T c.350G>T (p.Gly117Val) c.72G>T c.320G>T (p.Gly107Val) n.113G>T | |
1 | g.160042183C>G | CA343228171 | KCNJ10 | c.322G>C n.95-2835G>C c.350G>C (p.Gly117Ala) c.72G>C c.320G>C (p.Gly107Ala) n.113G>C | |
1 | g.160042183C>T | CA343228172 | KCNJ10 | c.322G>A n.95-2835G>A c.350G>A (p.Gly117Glu) c.72G>A c.320G>A (p.Gly107Glu) n.113G>A | gnomAD v4 COSMIC COSMIC |
1 | g.160042184C>A | CA343228216 | KCNJ10 | c.321G>T n.95-2836G>T c.349G>T (p.Gly117Ter) c.71G>T c.319G>T (p.Gly107Ter) n.112G>T | |
1 | g.160042184C>G | CA343228178 | KCNJ10 | c.321G>C n.95-2836G>C c.349G>C (p.Gly117Arg) c.71G>C c.319G>C (p.Gly107Arg) n.112G>C | |
1 | g.160042184C>T | CA343228183 | KCNJ10 | c.321G>A n.95-2836G>A c.349G>A (p.Gly117Arg) c.71G>A c.319G>A (p.Gly107Arg) n.112G>A | gnomAD v4 |
1 | g.160042185A>C | CA421597593 | KCNJ10 | c.320T>G n.95-2837T>G c.348T>G (p.Thr116=) c.70T>G c.318T>G (p.Thr106=) n.111T>G | |
1 | g.160042185A>G | CA421597594 | KCNJ10 | c.320T>C n.95-2837T>C c.348T>C (p.Thr116=) c.70T>C c.318T>C (p.Thr106=) n.111T>C | |
1 | g.160042185A>T | CA421597595 | KCNJ10 | c.320T>A n.95-2837T>A c.348T>A (p.Thr116=) c.70T>A c.318T>A (p.Thr106=) n.111T>A | dbSNP |
1 | g.160042186G>A | CA343228228 | KCNJ10 | c.319C>T n.95-2838C>T c.347C>T (p.Thr116Ile) c.69C>T c.317C>T (p.Thr106Ile) n.110C>T | |
1 | g.160042186G>C | CA343228233 | KCNJ10 | c.319C>G n.95-2838C>G c.347C>G (p.Thr116Ser) c.69C>G c.317C>G (p.Thr106Ser) n.110C>G | |
1 | g.160042186G>T | CA343228237 | KCNJ10 | c.319C>A n.95-2838C>A c.347C>A (p.Thr116Asn) c.69C>A c.317C>A (p.Thr106Asn) n.110C>A | |
1 | g.160042187T>A | CA343228249 | KCNJ10 | c.318A>T n.95-2839A>T c.346A>T (p.Thr116Ser) c.68A>T c.316A>T (p.Thr106Ser) n.109A>T | |
1 | g.160042187T>C | CA343228254 | KCNJ10 | c.318A>G n.95-2839A>G c.346A>G (p.Thr116Ala) c.68A>G c.316A>G (p.Thr106Ala) n.109A>G | |
1 | g.160042187T>G | CA343228256 | KCNJ10 | c.318A>C n.95-2839A>C c.346A>C (p.Thr116Pro) c.68A>C c.316A>C (p.Thr106Pro) n.109A>C | |
1 | g.160042188G>A | CA421597596 | KCNJ10 | c.317C>T n.95-2840C>T c.345C>T (p.Leu115=) c.67C>T c.315C>T (p.Leu105=) n.108C>T | dbSNP |
1 | g.160042188G>C | CA421597597 | KCNJ10 | c.317C>G n.95-2840C>G c.345C>G (p.Leu115=) c.67C>G c.315C>G (p.Leu105=) n.108C>G | |
1 | g.160042188G= | CA1202156871 | KCNJ10 | c.317C= n.95-2840C= c.345C= (p.Leu115=) c.67C= c.315C= (p.Leu105=) n.108C= | |
1 | g.160042188G>T | CA421597598 | KCNJ10 | c.317C>A n.95-2840C>A c.345C>A (p.Leu115=) c.67C>A c.315C>A (p.Leu105=) n.108C>A | |
1 | g.160042189A>C | CA343228257 | KCNJ10 | c.316T>G n.95-2841T>G c.344T>G (p.Leu115Arg) c.66T>G c.314T>G (p.Leu105Arg) n.107T>G | |
1 | g.160042189A>G | CA343228259 | KCNJ10 | c.316T>C n.95-2841T>C c.344T>C (p.Leu115Pro) c.66T>C c.314T>C (p.Leu105Pro) n.107T>C | gnomAD v4 |
1 | g.160042189A>T | CA343228258 | KCNJ10 | c.316T>A n.95-2841T>A c.344T>A (p.Leu115His) c.66T>A c.314T>A (p.Leu105His) n.107T>A | |
1 | g.160042190G>A | CA343228261 | KCNJ10 | c.315C>T n.95-2842C>T c.343C>T (p.Leu115Phe) c.65C>T c.313C>T (p.Leu105Phe) n.106C>T | gnomAD v4 |
1 | g.160042190G>C | CA343228273 | KCNJ10 | c.315C>G n.95-2842C>G c.343C>G (p.Leu115Val) c.65C>G c.313C>G (p.Leu105Val) n.106C>G | |
1 | g.160042190G>T | CA343228277 | KCNJ10 | c.315C>A n.95-2842C>A c.343C>A (p.Leu115Ile) c.65C>A c.313C>A (p.Leu105Ile) n.106C>A | gnomAD v4 |
1 | g.160042195_160042196del | CA645531319 | KCNJ10 | c.314_315del n.95-2843_95-2842del c.342_343del (p.Leu115HisfsTer9) c.64_65del c.312_313del (p.Leu105HisfsTer9) n.105_106del | COSMIC COSMIC |
1 | g.160042191T>A | CA421597599 | KCNJ10 | c.314A>T n.95-2843A>T c.342A>T (p.Thr114=) c.64A>T c.312A>T (p.Thr104=) n.105A>T | |
1 | g.160042191T>C | CA1193253 | KCNJ10 | c.314A>G n.95-2843A>G c.342A>G (p.Thr114=) c.64A>G c.312A>G (p.Thr104=) n.105A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.160042191T>G | CA421597600 | KCNJ10 | c.314A>C n.95-2843A>C c.342A>C (p.Thr114=) c.64A>C c.312A>C (p.Thr104=) n.105A>C | |
1 | g.160042191T= | CA1202156872 | KCNJ10 | c.314A= n.95-2843A= c.342A= (p.Thr114=) c.64A= c.312A= (p.Thr104=) n.105A= | |
1 | g.160042192G>A | CA343228298 | KCNJ10 | c.313C>T n.95-2844C>T c.341C>T (p.Thr114Ile) c.63C>T c.311C>T (p.Thr104Ile) n.104C>T | |
1 | g.160042192G>C | CA343228303 | KCNJ10 | c.313C>G n.95-2844C>G c.341C>G (p.Thr114Arg) c.63C>G c.311C>G (p.Thr104Arg) n.104C>G | COSMIC COSMIC |
1 | g.160042192G>T | CA343228306 | KCNJ10 | c.313C>A n.95-2844C>A c.341C>A (p.Thr114Lys) c.63C>A c.311C>A (p.Thr104Lys) n.104C>A | |
1 | g.160042193T>A | CA343228312 | KCNJ10 | c.312A>T n.95-2845A>T c.340A>T (p.Thr114Ser) c.62A>T c.310A>T (p.Thr104Ser) n.103A>T | |
1 | g.160042193T>C | CA343228322 | KCNJ10 | c.312A>G n.95-2845A>G c.340A>G (p.Thr114Ala) c.62A>G c.310A>G (p.Thr104Ala) n.103A>G | ClinVar dbSNP |
1 | g.160042193T>G | CA343228332 | KCNJ10 | c.312A>C n.95-2845A>C c.340A>C (p.Thr114Pro) c.62A>C c.310A>C (p.Thr104Pro) n.103A>C | |
1 | g.160042194G>A | CA421597601 | KCNJ10 | c.311C>T n.95-2846C>T c.339C>T (p.His113=) c.61C>T c.309C>T (p.His103=) n.102C>T | ClinVar dbSNP gnomAD v4 |
1 | g.160042194G>C | CA343228336 | KCNJ10 | c.311C>G n.95-2846C>G c.339C>G (p.His113Gln) c.61C>G c.309C>G (p.His103Gln) n.102C>G | |
1 | g.160042194G>T | CA343228343 | KCNJ10 | c.311C>A n.95-2846C>A c.339C>A (p.His113Gln) c.61C>A c.309C>A (p.His103Gln) n.102C>A | |
1 | g.160042195T>A | CA343228345 | KCNJ10 | c.310A>T n.95-2847A>T c.338A>T (p.His113Leu) c.60A>T c.308A>T (p.His103Leu) n.101A>T | |
1 | g.160042195T>C | CA343228347 | KCNJ10 | c.310A>G n.95-2847A>G c.338A>G (p.His113Arg) c.60A>G c.308A>G (p.His103Arg) n.101A>G | |
1 | g.160042195T>G | CA343228346 | KCNJ10 | c.310A>C n.95-2847A>C c.338A>C (p.His113Pro) c.60A>C c.308A>C (p.His103Pro) n.101A>C | |
1 | g.160042196G>A | CA343228348 | KCNJ10 | c.309C>T n.95-2848C>T c.337C>T (p.His113Tyr) c.59C>T c.307C>T (p.His103Tyr) n.100C>T | |
1 | g.160042196G>C | CA343228349 | KCNJ10 | c.309C>G n.95-2848C>G c.337C>G (p.His113Asp) c.59C>G c.307C>G (p.His103Asp) n.100C>G | |
1 | g.160042196G>T | CA343228351 | KCNJ10 | c.309C>A n.95-2848C>A c.337C>A (p.His113Asn) c.59C>A c.307C>A (p.His103Asn) n.100C>A | |
1 | g.160042197C>A | CA421597602 | KCNJ10 | c.308G>T n.95-2849G>T c.336G>T (p.Val112=) c.58G>T c.306G>T (p.Val102=) n.99G>T | gnomAD v4 |
1 | g.160042197C= | CA1202156873 | KCNJ10 | c.308G= n.95-2849G= c.336G= (p.Val112=) c.58G= c.306G= (p.Val102=) n.99G= | |
1 | g.160042197C>G | CA421597603 | KCNJ10 | c.308G>C n.95-2849G>C c.336G>C (p.Val112=) c.58G>C c.306G>C (p.Val102=) n.99G>C | |
1 | g.160042197C>T | CA1193254 | KCNJ10 | c.308G>A n.95-2849G>A c.336G>A (p.Val112=) c.58G>A c.306G>A (p.Val102=) n.99G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.160042198A= | CA1202156874 | KCNJ10 | c.307T= n.95-2850T= c.335T= (p.Val112=) c.57T= c.305T= (p.Val102=) n.98T= | |
1 | g.160042198A>C | CA343228381 | KCNJ10 | c.307T>G n.95-2850T>G c.335T>G (p.Val112Gly) c.57T>G c.305T>G (p.Val102Gly) n.98T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042198A>G | CA343228384 | KCNJ10 | c.307T>C n.95-2850T>C c.335T>C (p.Val112Ala) c.57T>C c.305T>C (p.Val102Ala) n.98T>C | |
1 | g.160042198A>T | CA343228385 | KCNJ10 | c.307T>A n.95-2850T>A c.335T>A (p.Val112Glu) c.57T>A c.305T>A (p.Val102Glu) n.98T>A | |
1 | g.160042199C>A | CA343228390 | KCNJ10 | c.306G>T n.95-2851G>T c.334G>T (p.Val112Leu) c.56G>T c.304G>T (p.Val102Leu) n.97G>T | ClinVar dbSNP gnomAD v4 |
1 | g.160042199C= | CA1202156875 | KCNJ10 | c.306G= n.95-2851G= c.334G= (p.Val112=) c.56G= c.304G= (p.Val102=) n.97G= | |
1 | g.160042199C>G | CA343228393 | KCNJ10 | c.306G>C n.95-2851G>C c.334G>C (p.Val112Leu) c.56G>C c.304G>C (p.Val102Leu) n.97G>C | |
1 | g.160042199C>T | CA31471069 | KCNJ10 | c.306G>A n.95-2851G>A c.334G>A (p.Val112Met) c.56G>A c.304G>A (p.Val102Met) n.97G>A | dbSNP |
1 | g.160042200C>A | CA343228396 | KCNJ10 | c.305G>T n.95-2852G>T c.333G>T (p.Gln111His) c.55G>T c.303G>T (p.Gln101His) n.96G>T | |
1 | g.160042200C>G | CA343228398 | KCNJ10 | c.305G>C n.95-2852G>C c.333G>C (p.Gln111His) c.55G>C c.303G>C (p.Gln101His) n.96G>C | |
1 | g.160042200C>T | CA421597604 | KCNJ10 | c.305G>A n.95-2852G>A c.333G>A (p.Gln111=) c.55G>A c.303G>A (p.Gln101=) n.96G>A | |
1 | g.160042201T>A | CA343228425 | KCNJ10 | c.304A>T n.95-2853A>T c.332A>T (p.Gln111Leu) c.54A>T c.302A>T (p.Gln101Leu) n.95A>T | |
1 | g.160042201T>C | CA343228410 | KCNJ10 | c.304A>G n.95-2853A>G c.332A>G (p.Gln111Arg) c.54A>G c.302A>G (p.Gln101Arg) n.95A>G | |
1 | g.160042201T>G | CA343228405 | KCNJ10 | c.304A>C n.95-2853A>C c.332A>C (p.Gln111Pro) c.54A>C c.302A>C (p.Gln101Pro) n.95A>C | |
1 | g.160042202G>A | CA343228436 | KCNJ10 | c.303C>T n.95-2854C>T c.331C>T (p.Gln111Ter) c.53C>T c.301C>T (p.Gln101Ter) n.94C>T | |
1 | g.160042202G>C | CA343228450 | KCNJ10 | c.303C>G n.95-2854C>G c.331C>G (p.Gln111Glu) c.53C>G c.301C>G (p.Gln101Glu) n.94C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.160042202G= | CA1202156876 | KCNJ10 | c.303C= n.95-2854C= c.331C= (p.Gln111=) c.53C= c.301C= (p.Gln101=) n.94C= | |
1 | g.160042202G>T | CA343228454 | KCNJ10 | c.303C>A n.95-2854C>A c.331C>A (p.Gln111Lys) c.53C>A c.301C>A (p.Gln101Lys) n.94C>A | |
1 | g.160042203T>A | CA421597607 | KCNJ10 | c.302A>T n.95-2855A>T c.330A>T (p.Val110=) c.52A>T c.300A>T (p.Val100=) n.93A>T | |
1 | g.160042203T>C | CA421597605 | KCNJ10 | c.302A>G n.95-2855A>G c.330A>G (p.Val110=) c.52A>G c.300A>G (p.Val100=) n.93A>G | |
1 | g.160042203T>G | CA421597606 | KCNJ10 | c.302A>C n.95-2855A>C c.330A>C (p.Val110=) c.52A>C c.300A>C (p.Val100=) n.93A>C | dbSNP |
1 | g.160042203T= | CA1202156877 | KCNJ10 | c.302A= n.95-2855A= c.330A= (p.Val110=) c.52A= c.300A= (p.Val100=) n.93A= | |
1 | g.160042204A>C | CA343228457 | KCNJ10 | c.301T>G n.95-2856T>G c.329T>G (p.Val110Gly) c.51T>G c.299T>G (p.Val100Gly) n.92T>G | |
1 | g.160042204A>G | CA343228458 | KCNJ10 | c.301T>C n.95-2856T>C c.329T>C (p.Val110Ala) c.51T>C c.299T>C (p.Val100Ala) n.92T>C | |
1 | g.160042204A>T | CA343228459 | KCNJ10 | c.301T>A n.95-2856T>A c.329T>A (p.Val110Glu) c.51T>A c.299T>A (p.Val100Glu) n.92T>A | |
1 | g.160042205C>A | CA343228464 | KCNJ10 | c.300G>T n.95-2857G>T c.328G>T (p.Val110Leu) c.50G>T c.298G>T (p.Val100Leu) n.91G>T | |
1 | g.160042205C>G | CA343228473 | KCNJ10 | c.300G>C n.95-2857G>C c.328G>C (p.Val110Leu) c.50G>C c.298G>C (p.Val100Leu) n.91G>C | |
1 | g.160042205C>T | CA343228477 | KCNJ10 | c.300G>A n.95-2857G>A c.328G>A (p.Val110Ile) c.50G>A c.298G>A (p.Val100Ile) n.91G>A | gnomAD v4 |
1 | g.160042206C>A | CA421597608 | KCNJ10 | c.299G>T n.95-2858G>T c.327G>T (p.Val109=) c.49G>T c.297G>T (p.Val99=) n.90G>T | |
1 | g.160042206C>G | CA421597609 | KCNJ10 | c.299G>C n.95-2858G>C c.327G>C (p.Val109=) c.49G>C c.297G>C (p.Val99=) n.90G>C | |
1 | g.160042206C>T | CA421597610 | KCNJ10 | c.299G>A n.95-2858G>A c.327G>A (p.Val109=) c.49G>A c.297G>A (p.Val99=) n.90G>A | gnomAD v4 |
1 | g.160042207A>C | CA343228480 | KCNJ10 | c.298T>G n.95-2859T>G c.326T>G (p.Val109Gly) c.48T>G c.296T>G (p.Val99Gly) n.89T>G | |
1 | g.160042207A>G | CA343228482 | KCNJ10 | c.298T>C n.95-2859T>C c.326T>C (p.Val109Ala) c.48T>C c.296T>C (p.Val99Ala) n.89T>C | |
1 | g.160042207A>T | CA343228486 | KCNJ10 | c.298T>A n.95-2859T>A c.326T>A (p.Val109Glu) c.48T>A c.296T>A (p.Val99Glu) n.89T>A | |
1 | g.160042208C>A | CA343228516 | KCNJ10 | c.297G>T n.95-2860G>T c.325G>T (p.Val109Leu) c.47G>T c.295G>T (p.Val99Leu) n.88G>T | |
1 | g.160042208C>G | CA343228513 | KCNJ10 | c.297G>C n.95-2860G>C c.325G>C (p.Val109Leu) c.47G>C c.295G>C (p.Val99Leu) n.88G>C | |
1 | g.160042208C>T | CA343228496 | KCNJ10 | c.297G>A n.95-2860G>A c.325G>A (p.Val109Met) c.47G>A c.295G>A (p.Val99Met) n.88G>A | |
1 | g.160042209A>C | CA343228529 | KCNJ10 | c.296T>G n.95-2861T>G c.324T>G (p.Cys108Trp) c.46T>G c.294T>G (p.Cys98Trp) n.87T>G | |
1 | g.160042209A>G | CA421597611 | KCNJ10 | c.296T>C n.95-2861T>C c.324T>C (p.Cys108=) c.46T>C c.294T>C (p.Cys98=) n.87T>C | gnomAD v4 |
1 | g.160042209A>T | CA343228545 | KCNJ10 | c.296T>A n.95-2861T>A c.324T>A (p.Cys108Ter) c.46T>A c.294T>A (p.Cys98Ter) n.87T>A | |
1 | g.160042210C>A | CA343228548 | KCNJ10 | c.295G>T n.95-2862G>T c.323G>T (p.Cys108Phe) c.45G>T c.293G>T (p.Cys98Phe) n.86G>T | |
1 | g.160042210C>G | CA343228551 | KCNJ10 | c.295G>C n.95-2862G>C c.323G>C (p.Cys108Ser) c.45G>C c.293G>C (p.Cys98Ser) n.86G>C | |
1 | g.160042210C>T | CA343228553 | KCNJ10 | c.295G>A n.95-2862G>A c.323G>A (p.Cys108Tyr) c.45G>A c.293G>A (p.Cys98Tyr) n.86G>A | |
1 | g.160042210_160042212delinsCAG | CA1202156878 | KCNJ10 | c.293_295delinsCTG n.95-2864_95-2862delinsCTG c.321_323delinsCTG (p.Pro107=) c.43_45delinsCTG c.291_293delinsCTG (p.Pro97=) n.84_86delinsCTG | |
1 | g.160042211A>C | CA343228564 | KCNJ10 | c.294T>G n.95-2863T>G c.322T>G (p.Cys108Gly) c.44T>G c.292T>G (p.Cys98Gly) n.85T>G | |
1 | g.160042211A>G | CA343228565 | KCNJ10 | c.294T>C n.95-2863T>C c.322T>C (p.Cys108Arg) c.44T>C c.292T>C (p.Cys98Arg) n.85T>C | |
1 | g.160042211A>T | CA343228566 | KCNJ10 | c.294T>A n.95-2863T>A c.322T>A (p.Cys108Ser) c.44T>A c.292T>A (p.Cys98Ser) n.85T>A | |
1 | g.160042211_160042212del | CA916082090 | KCNJ10 | c.293_294del n.95-2864_95-2863del c.321_322del (p.Val109GlyfsTer15) c.43_44del c.291_292del (p.Val99GlyfsTer15) n.84_85del | ClinVar dbSNP gnomAD v4 |
1 | g.160042212G>A | CA421597612 | KCNJ10 | c.293C>T n.95-2864C>T c.321C>T (p.Pro107=) c.43C>T c.291C>T (p.Pro97=) n.84C>T | gnomAD v4 |
1 | g.160042212G>C | CA421597613 | KCNJ10 | c.293C>G n.95-2864C>G c.321C>G (p.Pro107=) c.43C>G c.291C>G (p.Pro97=) n.84C>G | |
1 | g.160042212G>T | CA421597614 | KCNJ10 | c.293C>A n.95-2864C>A c.321C>A (p.Pro107=) c.43C>A c.291C>A (p.Pro97=) n.84C>A | |
1 | g.160042213G>A | CA343228591 | KCNJ10 | c.292C>T n.95-2865C>T c.320C>T (p.Pro107Leu) c.42C>T c.290C>T (p.Pro97Leu) n.83C>T | |
1 | g.160042213G>C | CA343228572 | KCNJ10 | c.292C>G n.95-2865C>G c.320C>G (p.Pro107Arg) c.42C>G c.290C>G (p.Pro97Arg) n.83C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042213G= | CA1202156879 | KCNJ10 | c.292C= n.95-2865C= c.320C= (p.Pro107=) c.42C= c.290C= (p.Pro97=) n.83C= | |
1 | g.160042213G>T | CA343228569 | KCNJ10 | c.292C>A n.95-2865C>A c.320C>A (p.Pro107His) c.42C>A c.290C>A (p.Pro97His) n.83C>A | |
1 | g.160042214G>A | CA343228596 | KCNJ10 | c.291C>T n.95-2866C>T c.319C>T (p.Pro107Ser) c.41C>T c.289C>T (p.Pro97Ser) n.82C>T | gnomAD v4 |
1 | g.160042214G>C | CA343228597 | KCNJ10 | c.291C>G n.95-2866C>G c.319C>G (p.Pro107Ala) c.41C>G c.289C>G (p.Pro97Ala) n.82C>G | dbSNP |
1 | g.160042214G= | CA1202156880 | KCNJ10 | c.291C= n.95-2866C= c.319C= (p.Pro107=) c.41C= c.289C= (p.Pro97=) n.82C= | |
1 | g.160042214G>T | CA343228603 | KCNJ10 | c.291C>A n.95-2866C>A c.319C>A (p.Pro107Thr) c.41C>A c.289C>A (p.Pro97Thr) n.82C>A | |
1 | g.160042215G>A | CA421597615 | KCNJ10 | c.290C>T n.95-2867C>T c.318C>T (p.Thr106=) c.40C>T c.288C>T (p.Thr96=) n.81C>T | gnomAD v4 |
1 | g.160042215G>C | CA421597616 | KCNJ10 | c.290C>G n.95-2867C>G c.318C>G (p.Thr106=) c.40C>G c.288C>G (p.Thr96=) n.81C>G | |
1 | g.160042215G>T | CA421597617 | KCNJ10 | c.290C>A n.95-2867C>A c.318C>A (p.Thr106=) c.40C>A c.288C>A (p.Thr96=) n.81C>A | dbSNP |
1 | g.160042216G>A | CA343228607 | KCNJ10 | c.289C>T n.95-2868C>T c.317C>T (p.Thr106Ile) c.39C>T c.287C>T (p.Thr96Ile) n.80C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.160042216G>C | CA343228611 | KCNJ10 | c.289C>G n.95-2868C>G c.317C>G (p.Thr106Ser) c.39C>G c.287C>G (p.Thr96Ser) n.80C>G | |
1 | g.160042216G= | CA1202156881 | KCNJ10 | c.289C= n.95-2868C= c.317C= (p.Thr106=) c.39C= c.287C= (p.Thr96=) n.80C= | |
1 | g.160042216G>T | CA343228612 | KCNJ10 | c.289C>A n.95-2868C>A c.317C>A (p.Thr106Asn) c.39C>A c.287C>A (p.Thr96Asn) n.80C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042217T>A | CA343228616 | KCNJ10 | c.288A>T n.95-2869A>T c.316A>T (p.Thr106Ser) c.38A>T c.286A>T (p.Thr96Ser) n.79A>T | |
1 | g.160042217T>C | CA343228620 | KCNJ10 | c.288A>G n.95-2869A>G c.316A>G (p.Thr106Ala) c.38A>G c.286A>G (p.Thr96Ala) n.79A>G | |
1 | g.160042217T>G | CA343228618 | KCNJ10 | c.288A>C n.95-2869A>C c.316A>C (p.Thr106Pro) c.38A>C c.286A>C (p.Thr96Pro) n.79A>C | |
1 | g.160042218G>A | CA421597618 | KCNJ10 | c.287C>T n.95-2870C>T c.315C>T (p.His105=) c.37C>T c.285C>T (p.His95=) n.78C>T | |
1 | g.160042218G>C | CA343228621 | KCNJ10 | c.287C>G n.95-2870C>G c.315C>G (p.His105Gln) c.37C>G c.285C>G (p.His95Gln) n.78C>G | |
1 | g.160042218G= | CA1202156882 | KCNJ10 | c.287C= n.95-2870C= c.315C= (p.His105=) c.37C= c.285C= (p.His95=) n.78C= | |
1 | g.160042218G>T | CA343228624 | KCNJ10 | c.287C>A n.95-2870C>A c.315C>A (p.His105Gln) c.37C>A c.285C>A (p.His95Gln) n.78C>A | dbSNP |
1 | g.160042219T>A | CA343228627 | KCNJ10 | c.286A>T n.95-2871A>T c.314A>T (p.His105Leu) c.36A>T c.284A>T (p.His95Leu) n.77A>T | |
1 | g.160042219T>C | CA343228632 | KCNJ10 | c.286A>G n.95-2871A>G c.314A>G (p.His105Arg) c.36A>G c.284A>G (p.His95Arg) n.77A>G | |
1 | g.160042219T>G | CA343228634 | KCNJ10 | c.286A>C n.95-2871A>C c.314A>C (p.His105Pro) c.36A>C c.284A>C (p.His95Pro) n.77A>C | |
1 | g.160042220G>A | CA343228642 | KCNJ10 | c.285C>T n.95-2872C>T c.313C>T (p.His105Tyr) c.35C>T c.283C>T (p.His95Tyr) n.76C>T | |
1 | g.160042220G>C | CA343228645 | KCNJ10 | c.285C>G n.95-2872C>G c.313C>G (p.His105Asp) c.35C>G c.283C>G (p.His95Asp) n.76C>G | |
1 | g.160042220G>T | CA343228649 | KCNJ10 | c.285C>A n.95-2872C>A c.313C>A (p.His105Asn) c.35C>A c.283C>A (p.His95Asn) n.76C>A | |
1 | g.160042221G>A | CA1193255 | KCNJ10 | c.284C>T n.95-2873C>T c.312C>T (p.Asn104=) c.34C>T c.282C>T (p.Asn94=) n.75C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.160042221G>C | CA343228670 | KCNJ10 | c.284C>G n.95-2873C>G c.312C>G (p.Asn104Lys) c.34C>G c.282C>G (p.Asn94Lys) n.75C>G | |
1 | g.160042221G= | CA1202156883 | KCNJ10 | c.284C= n.95-2873C= c.312C= (p.Asn104=) c.34C= c.282C= (p.Asn94=) n.75C= | |
1 | g.160042221G>T | CA343228684 | KCNJ10 | c.284C>A n.95-2873C>A c.312C>A (p.Asn104Lys) c.34C>A c.282C>A (p.Asn94Lys) n.75C>A | |
1 | g.160042222T>A | CA343228685 | KCNJ10 | c.283A>T n.95-2874A>T c.311A>T (p.Asn104Ile) c.33A>T c.281A>T (p.Asn94Ile) n.74A>T | |
1 | g.160042222T>C | CA343228687 | KCNJ10 | c.283A>G n.95-2874A>G c.311A>G (p.Asn104Ser) c.33A>G c.281A>G (p.Asn94Ser) n.74A>G | |
1 | g.160042222T>G | CA343228686 | KCNJ10 | c.283A>C n.95-2874A>C c.311A>C (p.Asn104Thr) c.33A>C c.281A>C (p.Asn94Thr) n.74A>C | |
1 | g.160042223T>A | CA343228690 | KCNJ10 | c.282A>T n.95-2875A>T c.310A>T (p.Asn104Tyr) c.32A>T c.280A>T (p.Asn94Tyr) n.73A>T | |
1 | g.160042223T>C | CA343228692 | KCNJ10 | c.282A>G n.95-2875A>G c.310A>G (p.Asn104Asp) c.32A>G c.280A>G (p.Asn94Asp) n.73A>G | |
1 | g.160042223T>G | CA343228696 | KCNJ10 | c.282A>C n.95-2875A>C c.310A>C (p.Asn104His) c.32A>C c.280A>C (p.Asn94His) n.73A>C | |
1 | g.160042224G>A | CA421597619 | KCNJ10 | c.281C>T n.95-2876C>T c.309C>T (p.Ala103=) c.31C>T c.279C>T (p.Ala93=) n.72C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.160042224G>C | CA421597620 | KCNJ10 | c.281C>G n.95-2876C>G c.309C>G (p.Ala103=) c.31C>G c.279C>G (p.Ala93=) n.72C>G | |
1 | g.160042224G= | CA1202156884 | KCNJ10 | c.281C= n.95-2876C= c.309C= (p.Ala103=) c.31C= c.279C= (p.Ala93=) n.72C= | |
1 | g.160042224G>T | CA421597621 | KCNJ10 | c.281C>A n.95-2876C>A c.309C>A (p.Ala103=) c.31C>A c.279C>A (p.Ala93=) n.72C>A | |
1 | g.160042225G>A | CA343228715 | KCNJ10 | c.280C>T n.95-2877C>T c.308C>T (p.Ala103Val) c.30C>T c.278C>T (p.Ala93Val) n.71C>T | |
1 | g.160042225G>C | CA343228719 | KCNJ10 | c.280C>G n.95-2877C>G c.308C>G (p.Ala103Gly) c.30C>G c.278C>G (p.Ala93Gly) n.71C>G | |
1 | g.160042225G>T | CA343228722 | KCNJ10 | c.280C>A n.95-2877C>A c.308C>A (p.Ala103Asp) c.30C>A c.278C>A (p.Ala93Asp) n.71C>A | |
1 | g.160042226C>A | CA343228723 | KCNJ10 | c.279G>T n.95-2878G>T c.307G>T (p.Ala103Ser) c.29G>T c.277G>T (p.Ala93Ser) n.70G>T | |
1 | g.160042226C>G | CA343228724 | KCNJ10 | c.279G>C n.95-2878G>C c.307G>C (p.Ala103Pro) c.29G>C c.277G>C (p.Ala93Pro) n.70G>C | |
1 | g.160042226C>T | CA343228725 | KCNJ10 | c.279G>A n.95-2878G>A c.307G>A (p.Ala103Thr) c.29G>A c.277G>A (p.Ala93Thr) n.70G>A | |
1 | g.160042227C>A | CA421597622 | KCNJ10 | c.278G>T n.95-2879G>T c.306G>T (p.Pro102=) c.28G>T c.276G>T (p.Pro92=) n.69G>T | |
1 | g.160042227C= | CA1146811990 | KCNJ10 | c.278G= n.95-2879G= c.306G= (p.Pro102=) c.28G= c.276G= (p.Pro92=) n.69G= | |
1 | g.160042227C>G | CA421597623 | KCNJ10 | c.278G>C n.95-2879G>C c.306G>C (p.Pro102=) c.28G>C c.276G>C (p.Pro92=) n.69G>C | |
1 | g.160042227C>T | CA1193256 | KCNJ10 | c.278G>A n.95-2879G>A c.306G>A (p.Pro102=) c.28G>A c.276G>A (p.Pro92=) n.69G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042227_160042228delinsCG | CA1202156885 | KCNJ10 | c.277_278delinsCG n.95-2880_95-2879delinsCG c.305_306delinsCG (p.Pro102=) c.27_28delinsCG c.275_276delinsCG (p.Pro92=) n.68_69delinsCG | |
1 | g.160042228G>A | CA1193258 | KCNJ10 | c.277C>T n.95-2880C>T c.305C>T (p.Pro102Leu) c.27C>T c.275C>T (p.Pro92Leu) n.68C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042228G>C | CA343228740 | KCNJ10 | c.277C>G n.95-2880C>G c.305C>G (p.Pro102Arg) c.27C>G c.275C>G (p.Pro92Arg) n.68C>G | ClinVar dbSNP gnomAD v4 |
1 | g.160042228G= | CA1143843636 | KCNJ10 | c.277C= n.95-2880C= c.305C= (p.Pro102=) c.27C= c.275C= (p.Pro92=) n.68C= | |
1 | g.160042228G>T | CA343228739 | KCNJ10 | c.277C>A n.95-2880C>A c.305C>A (p.Pro102Gln) c.27C>A c.275C>A (p.Pro92Gln) n.68C>A | |
1 | g.160042233dup | CA1202156886 | KCNJ10 | c.277dup n.95-2880dup c.305dup (p.Ala103GlyfsTer22) c.27dup c.275dup (p.Ala93GlyfsTer22) n.68dup | ClinVar dbSNP |
1 | g.160042233del | CA1193257 | KCNJ10 | c.277del n.95-2880del c.305del (p.Pro102ArgfsTer?) c.27del c.275del (p.Pro92ArgfsTer?) n.68del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.160042229G>A | CA343228746 | KCNJ10 | c.276C>T n.95-2881C>T c.304C>T (p.Pro102Ser) c.26C>T c.274C>T (p.Pro92Ser) n.67C>T | ClinVar dbSNP gnomAD v4 |
1 | g.160042229G>C | CA343228753 | KCNJ10 | c.276C>G n.95-2881C>G c.304C>G (p.Pro102Ala) c.26C>G c.274C>G (p.Pro92Ala) n.67C>G | |
1 | g.160042229G= | CA1202156887 | KCNJ10 | c.276C= n.95-2881C= c.304C= (p.Pro102=) c.26C= c.274C= (p.Pro92=) n.67C= | |
1 | g.160042229G>T | CA343228766 | KCNJ10 | c.276C>A n.95-2881C>A c.304C>A (p.Pro102Thr) c.26C>A c.274C>A (p.Pro92Thr) n.67C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042230G>A | CA421597626 | KCNJ10 | c.275C>T n.95-2882C>T c.303C>T (p.Pro101=) c.25C>T c.273C>T (p.Pro91=) n.66C>T | |
1 | g.160042230G>C | CA421597624 | KCNJ10 | c.275C>G n.95-2882C>G c.303C>G (p.Pro101=) c.25C>G c.273C>G (p.Pro91=) n.66C>G | |
1 | g.160042230G>T | CA421597625 | KCNJ10 | c.275C>A n.95-2882C>A c.303C>A (p.Pro101=) c.25C>A c.273C>A (p.Pro91=) n.66C>A | |
1 | g.160042231G>A | CA343228775 | KCNJ10 | c.274C>T n.95-2883C>T c.302C>T (p.Pro101Leu) c.24C>T c.272C>T (p.Pro91Leu) n.65C>T | ClinVar dbSNP |
1 | g.160042231G>C | CA343228799 | KCNJ10 | c.274C>G n.95-2883C>G c.302C>G (p.Pro101Arg) c.24C>G c.272C>G (p.Pro91Arg) n.65C>G | |
1 | g.160042231G= | CA1202156888 | KCNJ10 | c.274C= n.95-2883C= c.302C= (p.Pro101=) c.24C= c.272C= (p.Pro91=) n.65C= | |
1 | g.160042231G>T | CA343228812 | KCNJ10 | c.274C>A n.95-2883C>A c.302C>A (p.Pro101His) c.24C>A c.272C>A (p.Pro91His) n.65C>A | |
1 | g.160042232G>A | CA343228820 | KCNJ10 | c.273C>T n.95-2884C>T c.301C>T (p.Pro101Ser) c.23C>T c.271C>T (p.Pro91Ser) n.64C>T | ClinVar dbSNP gnomAD v4 |
1 | g.160042232G>C | CA343228825 | KCNJ10 | c.273C>G n.95-2884C>G c.301C>G (p.Pro101Ala) c.23C>G c.271C>G (p.Pro91Ala) n.64C>G | |
1 | g.160042232G= | CA1144055267 | KCNJ10 | c.273C= n.95-2884C= c.301C= (p.Pro101=) c.23C= c.271C= (p.Pro91=) n.64C= | |
1 | g.160042232G>T | CA315280 | KCNJ10 | c.273C>A n.95-2884C>A c.301C>A (p.Pro101Thr) c.23C>A c.271C>A (p.Pro91Thr) n.64C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042233G>A | CA1193260 | KCNJ10 | c.272C>T n.95-2885C>T c.300C>T (p.Asp100=) c.22C>T c.270C>T (p.Asp90=) n.63C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042233G>C | CA343228840 | KCNJ10 | c.272C>G n.95-2885C>G c.300C>G (p.Asp100Glu) c.22C>G c.270C>G (p.Asp90Glu) n.63C>G | |
1 | g.160042233G= | CA1141657745 | KCNJ10 | c.272C= n.95-2885C= c.300C= (p.Asp100=) c.22C= c.270C= (p.Asp90=) n.63C= | |
1 | g.160042233G>T | CA1193259 | KCNJ10 | c.272C>A n.95-2885C>A c.300C>A (p.Asp100Glu) c.22C>A c.270C>A (p.Asp90Glu) n.63C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042234T>A | CA343228853 | KCNJ10 | c.271A>T n.95-2886A>T c.299A>T (p.Asp100Val) c.21A>T c.269A>T (p.Asp90Val) n.62A>T | |
1 | g.160042234T>C | CA343228857 | KCNJ10 | c.271A>G n.95-2886A>G c.299A>G (p.Asp100Gly) c.21A>G c.269A>G (p.Asp90Gly) n.62A>G | gnomAD v4 |
1 | g.160042234T>G | CA343228852 | KCNJ10 | c.271A>C n.95-2886A>C c.299A>C (p.Asp100Ala) c.21A>C c.269A>C (p.Asp90Ala) n.62A>C | dbSNP |
1 | g.160042234T= | CA1202156889 | KCNJ10 | c.271A= n.95-2886A= c.299A= (p.Asp100=) c.21A= c.269A= (p.Asp90=) n.62A= | |
1 | g.160042235C>A | CA343228871 | KCNJ10 | c.270G>T n.95-2887G>T c.298G>T (p.Asp100Tyr) c.20G>T c.268G>T (p.Asp90Tyr) n.61G>T | |
1 | g.160042235C>G | CA343228860 | KCNJ10 | c.270G>C n.95-2887G>C c.298G>C (p.Asp100His) c.20G>C c.268G>C (p.Asp90His) n.61G>C | |
1 | g.160042235C>T | CA343228868 | KCNJ10 | c.270G>A n.95-2887G>A c.298G>A (p.Asp100Asn) c.20G>A c.268G>A (p.Asp90Asn) n.61G>A | |
1 | g.160042237_160042304del | CA2648632510 | KCNJ10 | c.203_270del n.95-2954_95-2887del c.231_298del (p.Thr78ProfsTer24) c.201_268del (p.Thr68ProfsTer24) | gnomAD v4 |
1 | g.160042236C>A | CA421597627 | KCNJ10 | c.269G>T n.95-2888G>T c.297G>T (p.Leu99=) c.19G>T c.267G>T (p.Leu89=) n.60G>T | |
1 | g.160042236C= | CA1202156890 | KCNJ10 | c.269G= n.95-2888G= c.297G= (p.Leu99=) c.19G= c.267G= (p.Leu89=) n.60G= | |
1 | g.160042236C>G | CA421597628 | KCNJ10 | c.269G>C n.95-2888G>C c.297G>C (p.Leu99=) c.19G>C c.267G>C (p.Leu89=) n.60G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.160042236C>T | CA421597629 | KCNJ10 | c.269G>A n.95-2888G>A c.297G>A (p.Leu99=) c.19G>A c.267G>A (p.Leu89=) n.60G>A | |
1 | g.160042237A= | CA1145232463 | KCNJ10 | c.268T= n.95-2889T= c.296T= (p.Leu99=) c.18T= c.266T= (p.Leu89=) n.59T= | |
1 | g.160042237A>C | CA343228878 | KCNJ10 | c.268T>G n.95-2889T>G c.296T>G (p.Leu99Arg) c.18T>G c.266T>G (p.Leu89Arg) n.59T>G | |
1 | g.160042237A>G | CA1193261 | KCNJ10 | c.268T>C n.95-2889T>C c.296T>C (p.Leu99Pro) c.18T>C c.266T>C (p.Leu89Pro) n.59T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042237A>T | CA343228888 | KCNJ10 | c.268T>A n.95-2889T>A c.296T>A (p.Leu99Gln) c.18T>A c.266T>A (p.Leu89Gln) n.59T>A | |
1 | g.160042238G>A | CA421597630 | KCNJ10 | c.267C>T n.95-2890C>T c.295C>T (p.Leu99=) c.17C>T c.265C>T (p.Leu89=) n.58C>T | |
1 | g.160042238G>C | CA343228896 | KCNJ10 | c.267C>G n.95-2890C>G c.295C>G (p.Leu99Val) c.17C>G c.265C>G (p.Leu89Val) n.58C>G | gnomAD v4 |
1 | g.160042238G= | CA1202156891 | KCNJ10 | c.267C= n.95-2890C= c.295C= (p.Leu99=) c.17C= c.265C= (p.Leu89=) n.58C= | |
1 | g.160042238G>T | CA343228899 | KCNJ10 | c.267C>A n.95-2890C>A c.295C>A (p.Leu99Met) c.17C>A c.265C>A (p.Leu89Met) n.58C>A | dbSNP gnomAD v4 |
1 | g.160042239C>A | CA343228902 | KCNJ10 | c.266G>T n.95-2891G>T c.294G>T (p.Glu98Asp) c.16G>T c.264G>T (p.Glu88Asp) n.57G>T | |
1 | g.160042239C>G | CA343228906 | KCNJ10 | c.266G>C n.95-2891G>C c.294G>C (p.Glu98Asp) c.16G>C c.264G>C (p.Glu88Asp) n.57G>C | |
1 | g.160042239C>T | CA421597631 | KCNJ10 | c.266G>A n.95-2891G>A c.294G>A (p.Glu98=) c.16G>A c.264G>A (p.Glu88=) n.57G>A | ClinVar |
1 | g.160042240T>A | CA343228907 | KCNJ10 | c.265A>T n.95-2892A>T c.293A>T (p.Glu98Val) c.15A>T c.263A>T (p.Glu88Val) n.56A>T | |
1 | g.160042240T>C | CA343228908 | KCNJ10 | c.265A>G n.95-2892A>G c.293A>G (p.Glu98Gly) c.15A>G c.263A>G (p.Glu88Gly) n.56A>G | |
1 | g.160042240T>G | CA343228909 | KCNJ10 | c.265A>C n.95-2892A>C c.293A>C (p.Glu98Ala) c.15A>C c.263A>C (p.Glu88Ala) n.56A>C | |
1 | g.160042241C>A | CA343228912 | KCNJ10 | c.264G>T n.95-2893G>T c.292G>T (p.Glu98Ter) c.14G>T c.262G>T (p.Glu88Ter) n.55G>T | |
1 | g.160042241C= | CA1143392616 | KCNJ10 | c.264G= n.95-2893G= c.292G= (p.Glu98=) c.14G= c.262G= (p.Glu88=) n.55G= | |
1 | g.160042241C>G | CA31471115 | KCNJ10 | c.264G>C n.95-2893G>C c.292G>C (p.Glu98Gln) c.14G>C c.262G>C (p.Glu88Gln) n.55G>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.160042241C>T | CA343228911 | KCNJ10 | c.264G>A n.95-2893G>A c.292G>A (p.Glu98Lys) c.14G>A c.262G>A (p.Glu88Lys) n.55G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042242C>A | CA421597632 | KCNJ10 | c.263G>T n.95-2894G>T c.291G>T (p.Leu97=) c.13G>T c.261G>T (p.Leu87=) n.54G>T | |
1 | g.160042242C>G | CA421597633 | KCNJ10 | c.263G>C n.95-2894G>C c.291G>C (p.Leu97=) c.13G>C c.261G>C (p.Leu87=) n.54G>C | |
1 | g.160042242C>T | CA421597634 | KCNJ10 | c.263G>A n.95-2894G>A c.291G>A (p.Leu97=) c.13G>A c.261G>A (p.Leu87=) n.54G>A | |
1 | g.160042243A= | CA1202156892 | KCNJ10 | c.262T= n.95-2895T= c.290T= (p.Leu97=) c.12T= c.260T= (p.Leu87=) n.53T= | |
1 | g.160042243A>C | CA343228915 | KCNJ10 | c.262T>G n.95-2895T>G c.290T>G (p.Leu97Arg) c.12T>G c.260T>G (p.Leu87Arg) n.53T>G | |
1 | g.160042243A>G | CA343228919 | KCNJ10 | c.262T>C n.95-2895T>C c.290T>C (p.Leu97Pro) c.12T>C c.260T>C (p.Leu87Pro) n.53T>C | |
1 | g.160042243A>T | CA343228923 | KCNJ10 | c.262T>A n.95-2895T>A c.290T>A (p.Leu97Gln) c.12T>A c.260T>A (p.Leu87Gln) n.53T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042244G>A | CA421597635 | KCNJ10 | c.261C>T n.95-2896C>T c.289C>T (p.Leu97=) c.11C>T c.259C>T (p.Leu87=) n.52C>T | gnomAD v4 |
1 | g.160042244G>C | CA343228927 | KCNJ10 | c.261C>G n.95-2896C>G c.289C>G (p.Leu97Val) c.11C>G c.259C>G (p.Leu87Val) n.52C>G | |
1 | g.160042244G>T | CA343228934 | KCNJ10 | c.261C>A n.95-2896C>A c.289C>A (p.Leu97Met) c.11C>A c.259C>A (p.Leu87Met) n.52C>A | |
1 | g.160042245C>A | CA421597636 | KCNJ10 | c.260G>T n.95-2897G>T c.288G>T (p.Leu96=) c.10G>T c.258G>T (p.Leu86=) n.51G>T | |
1 | g.160042245C>G | CA421597637 | KCNJ10 | c.260G>C n.95-2897G>C c.288G>C (p.Leu96=) c.10G>C c.258G>C (p.Leu86=) n.51G>C | gnomAD v4 |
1 | g.160042245C>T | CA421597638 | KCNJ10 | c.260G>A n.95-2897G>A c.288G>A (p.Leu96=) c.10G>A c.258G>A (p.Leu86=) n.51G>A | |
1 | g.160042246A>C | CA343228939 | KCNJ10 | c.259T>G n.95-2898T>G c.287T>G (p.Leu96Arg) c.9T>G c.257T>G (p.Leu86Arg) n.50T>G | |
1 | g.160042246A>G | CA343228945 | KCNJ10 | c.259T>C n.95-2898T>C c.287T>C (p.Leu96Pro) c.9T>C c.257T>C (p.Leu86Pro) n.50T>C | |
1 | g.160042246A>T | CA343228959 | KCNJ10 | c.259T>A n.95-2898T>A c.287T>A (p.Leu96Gln) c.9T>A c.257T>A (p.Leu86Gln) n.50T>A | |
1 | g.160042247G>A | CA421597639 | KCNJ10 | c.258C>T n.95-2899C>T c.286C>T (p.Leu96=) c.8C>T c.256C>T (p.Leu86=) n.49C>T | |
1 | g.160042247G>C | CA343228962 | KCNJ10 | c.258C>G n.95-2899C>G c.286C>G (p.Leu96Val) c.8C>G c.256C>G (p.Leu86Val) n.49C>G | |
1 | g.160042247G>T | CA343228963 | KCNJ10 | c.258C>A n.95-2899C>A c.286C>A (p.Leu96Met) c.8C>A c.256C>A (p.Leu86Met) n.49C>A | |
1 | g.160042248G>A | CA421597640 | KCNJ10 | c.257C>T n.95-2900C>T c.285C>T (p.Asp95=) c.7C>T c.255C>T (p.Asp85=) n.48C>T | COSMIC COSMIC |
1 | g.160042248G>C | CA343228969 | KCNJ10 | c.257C>G n.95-2900C>G c.285C>G (p.Asp95Glu) c.7C>G c.255C>G (p.Asp85Glu) n.48C>G | |
1 | g.160042248G>T | CA343228972 | KCNJ10 | c.257C>A n.95-2900C>A c.285C>A (p.Asp95Glu) c.7C>A c.255C>A (p.Asp85Glu) n.48C>A | gnomAD v4 |
1 | g.160042249T>A | CA343228980 | KCNJ10 | c.256A>T n.95-2901A>T c.284A>T (p.Asp95Val) c.6A>T c.254A>T (p.Asp85Val) n.47A>T | |
1 | g.160042249T>C | CA343228983 | KCNJ10 | c.256A>G n.95-2901A>G c.284A>G (p.Asp95Gly) c.6A>G c.254A>G (p.Asp85Gly) n.47A>G | |
1 | g.160042249T>G | CA343228978 | KCNJ10 | c.256A>C n.95-2901A>C c.284A>C (p.Asp95Ala) c.6A>C c.254A>C (p.Asp85Ala) n.47A>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.160042249T= | CA1202156893 | KCNJ10 | c.256A= n.95-2901A= c.284A= (p.Asp95=) c.6A= c.254A= (p.Asp85=) n.47A= | |
1 | g.160042250C>A | CA343228987 | KCNJ10 | c.255G>T n.95-2902G>T c.283G>T (p.Asp95Tyr) c.5G>T c.253G>T (p.Asp85Tyr) n.46G>T | |
1 | g.160042250C>G | CA343228988 | KCNJ10 | c.255G>C n.95-2902G>C c.283G>C (p.Asp95His) c.5G>C c.253G>C (p.Asp85His) n.46G>C | |
1 | g.160042250C>T | CA343228989 | KCNJ10 | c.255G>A n.95-2902G>A c.283G>A (p.Asp95Asn) c.5G>A c.253G>A (p.Asp85Asn) n.46G>A | |
1 | g.160042251C>A | CA421597643 | KCNJ10 | c.254G>T n.95-2903G>T c.282G>T (p.Gly94=) c.4G>T c.252G>T (p.Gly84=) n.45G>T | |
1 | g.160042251C= | CA1202156894 | KCNJ10 | c.254G= n.95-2903G= c.282G= (p.Gly94=) c.4G= c.252G= (p.Gly84=) n.45G= | |
1 | g.160042251C>G | CA421597641 | KCNJ10 | c.254G>C n.95-2903G>C c.282G>C (p.Gly94=) c.4G>C c.252G>C (p.Gly84=) n.45G>C | |
1 | g.160042251C>T | CA421597642 | KCNJ10 | c.254G>A n.95-2903G>A c.282G>A (p.Gly94=) c.4G>A c.252G>A (p.Gly84=) n.45G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.160042252C>A | CA343228991 | KCNJ10 | c.253G>T n.95-2904G>T c.281G>T (p.Gly94Val) c.3G>T c.251G>T (p.Gly84Val) n.44G>T | |
1 | g.160042252C>G | CA343228992 | KCNJ10 | c.253G>C n.95-2904G>C c.281G>C (p.Gly94Ala) c.3G>C c.251G>C (p.Gly84Ala) n.44G>C | |
1 | g.160042252C>T | CA343228994 | KCNJ10 | c.253G>A n.95-2904G>A c.281G>A (p.Gly94Glu) c.3G>A c.251G>A (p.Gly84Glu) n.44G>A | |
1 | g.160042253C>A | CA343228995 | KCNJ10 | c.252G>T n.95-2905G>T c.280G>T (p.Gly94Trp) c.2G>T c.250G>T (p.Gly84Trp) n.43G>T | |
1 | g.160042253C>G | CA343228996 | KCNJ10 | c.252G>C n.95-2905G>C c.280G>C (p.Gly94Arg) c.2G>C c.250G>C (p.Gly84Arg) n.43G>C | |
1 | g.160042253C>T | CA343228997 | KCNJ10 | c.252G>A n.95-2905G>A c.280G>A (p.Gly94Arg) c.2G>A c.250G>A (p.Gly84Arg) n.43G>A | gnomAD v4 |
1 | g.160042254A>C | CA343228999 | KCNJ10 | c.251T>G n.95-2906T>G c.279T>G (p.His93Gln) c.1T>G c.249T>G (p.His83Gln) n.42T>G | |
1 | g.160042254A>G | CA421597644 | KCNJ10 | c.251T>C n.95-2906T>C c.279T>C (p.His93=) c.1T>C c.249T>C (p.His83=) n.42T>C | COSMIC COSMIC |
1 | g.160042254A>T | CA343229000 | KCNJ10 | c.251T>A n.95-2906T>A c.279T>A (p.His93Gln) c.1T>A c.249T>A (p.His83Gln) n.42T>A | |
1 | g.160042255T>A | CA343229004 | KCNJ10 | c.250A>T n.95-2907A>T c.278A>T (p.His93Leu) c.248A>T (p.His83Leu) n.41A>T | ClinVar dbSNP |
1 | g.160042255T>C | CA343229007 | KCNJ10 | c.250A>G n.95-2907A>G c.278A>G (p.His93Arg) c.248A>G (p.His83Arg) n.41A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.160042255T>G | CA343229010 | KCNJ10 | c.250A>C n.95-2907A>C c.278A>C (p.His93Pro) c.248A>C (p.His83Pro) n.41A>C | |
1 | g.160042255T= | CA1202156895 | KCNJ10 | c.250A= n.95-2907A= c.278A= (p.His93=) c.248A= (p.His83=) n.41A= | |
1 | g.160042256G>A | CA343229028 | KCNJ10 | c.249C>T n.95-2908C>T c.277C>T (p.His93Tyr) c.247C>T (p.His83Tyr) n.40C>T | |
1 | g.160042256G>C | CA343229022 | KCNJ10 | c.249C>G n.95-2908C>G c.277C>G (p.His93Asp) c.247C>G (p.His83Asp) n.40C>G | |
1 | g.160042256G>T | CA343229012 | KCNJ10 | c.249C>A n.95-2908C>A c.277C>A (p.His93Asn) c.247C>A (p.His83Asn) n.40C>A | |
1 | g.160042257T>A | CA421597645 | KCNJ10 | c.248A>T n.95-2909A>T c.276A>T (p.Ala92=) c.246A>T (p.Ala82=) n.39A>T | |
1 | g.160042257T>C | CA421597646 | KCNJ10 | c.248A>G n.95-2909A>G c.276A>G (p.Ala92=) c.246A>G (p.Ala82=) n.39A>G | |
1 | g.160042257T>G | CA421597647 | KCNJ10 | c.248A>C n.95-2909A>C c.276A>C (p.Ala92=) c.246A>C (p.Ala82=) n.39A>C | |
1 | g.160042258G>A | CA343229031 | KCNJ10 | c.247C>T n.95-2910C>T c.275C>T (p.Ala92Val) c.245C>T (p.Ala82Val) n.38C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.160042258G>C | CA343229033 | KCNJ10 | c.247C>G n.95-2910C>G c.275C>G (p.Ala92Gly) c.245C>G (p.Ala82Gly) n.38C>G | |
1 | g.160042258G= | CA1202156896 | KCNJ10 | c.247C= n.95-2910C= c.275C= (p.Ala92=) c.245C= (p.Ala82=) n.38C= | |
1 | g.160042258G>T | CA343229038 | KCNJ10 | c.247C>A n.95-2910C>A c.275C>A (p.Ala92Glu) c.245C>A (p.Ala82Glu) n.38C>A | |
1 | g.160042259C>A | CA343229039 | KCNJ10 | c.246G>T n.95-2911G>T c.274G>T (p.Ala92Ser) c.244G>T (p.Ala82Ser) n.37G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042259C= | CA1202156897 | KCNJ10 | c.246G= n.95-2911G= c.274G= (p.Ala92=) c.244G= (p.Ala82=) n.37G= | |
1 | g.160042259C>G | CA343229040 | KCNJ10 | c.246G>C n.95-2911G>C c.274G>C (p.Ala92Pro) c.244G>C (p.Ala82Pro) n.37G>C | |
1 | g.160042259C>T | CA343229041 | KCNJ10 | c.246G>A n.95-2911G>A c.274G>A (p.Ala92Thr) c.244G>A (p.Ala82Thr) n.37G>A | |
1 | g.160042260C>A | CA421597648 | KCNJ10 | c.245G>T n.95-2912G>T c.273G>T (p.Val91=) c.243G>T (p.Val81=) n.36G>T | |
1 | g.160042260C= | CA1148227829 | KCNJ10 | c.245G= n.95-2912G= c.273G= (p.Val91=) c.243G= (p.Val81=) n.36G= | |
1 | g.160042260C>G | CA421597649 | KCNJ10 | c.245G>C n.95-2912G>C c.273G>C (p.Val91=) c.243G>C (p.Val81=) n.36G>C | |
1 | g.160042260C>T | CA1193262 | KCNJ10 | c.245G>A n.95-2912G>A c.273G>A (p.Val91=) c.243G>A (p.Val81=) n.36G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042261del | CA2573332901 | KCNJ10 | c.244del n.95-2913del c.272del (p.Val91GlyfsTer?) c.242del (p.Val81GlyfsTer?) n.35del | |
1 | g.160042261A>C | CA343229048 | KCNJ10 | c.244T>G n.95-2913T>G c.272T>G (p.Val91Gly) c.242T>G (p.Val81Gly) n.35T>G | |
1 | g.160042261A>G | CA343229055 | KCNJ10 | c.244T>C n.95-2913T>C c.272T>C (p.Val91Ala) c.242T>C (p.Val81Ala) n.35T>C | |
1 | g.160042261A>T | CA343229061 | KCNJ10 | c.244T>A n.95-2913T>A c.272T>A (p.Val91Glu) c.242T>A (p.Val81Glu) n.35T>A | |
1 | g.160042262C>A | CA343229065 | KCNJ10 | c.243G>T n.95-2914G>T c.271G>T (p.Val91Leu) c.241G>T (p.Val81Leu) n.34G>T | |
1 | g.160042262C>G | CA343229067 | KCNJ10 | c.243G>C n.95-2914G>C c.271G>C (p.Val91Leu) c.241G>C (p.Val81Leu) n.34G>C | gnomAD v4 |
1 | g.160042262C>T | CA343229068 | KCNJ10 | c.243G>A n.95-2914G>A c.271G>A (p.Val91Met) c.241G>A (p.Val81Met) n.34G>A | |
1 | g.160042263A>C | CA421597650 | KCNJ10 | c.242T>G n.95-2915T>G c.270T>G (p.Ala90=) c.240T>G (p.Ala80=) n.33T>G | |
1 | g.160042263A>G | CA421597651 | KCNJ10 | c.242T>C n.95-2915T>C c.270T>C (p.Ala90=) c.240T>C (p.Ala80=) n.33T>C | |
1 | g.160042263A>T | CA421597652 | KCNJ10 | c.242T>A n.95-2915T>A c.270T>A (p.Ala90=) c.240T>A (p.Ala80=) n.33T>A | |
1 | g.160042264G>A | CA1193263 | KCNJ10 | c.241C>T n.95-2916C>T c.269C>T (p.Ala90Val) c.239C>T (p.Ala80Val) n.32C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.160042264G>C | CA343229075 | KCNJ10 | c.241C>G n.95-2916C>G c.269C>G (p.Ala90Gly) c.239C>G (p.Ala80Gly) n.32C>G | |
1 | g.160042264G= | CA1202156898 | KCNJ10 | c.241C= n.95-2916C= c.269C= (p.Ala90=) c.239C= (p.Ala80=) n.32C= | |
1 | g.160042264G>T | CA343229072 | KCNJ10 | c.241C>A n.95-2916C>A c.269C>A (p.Ala90Asp) c.239C>A (p.Ala80Asp) n.32C>A | |
1 | g.160042265C>A | CA343229078 | KCNJ10 | c.240G>T n.95-2917G>T c.268G>T (p.Ala90Ser) c.238G>T (p.Ala80Ser) n.31G>T | |
1 | g.160042265C>G | CA343229081 | KCNJ10 | c.240G>C n.95-2917G>C c.268G>C (p.Ala90Pro) c.238G>C (p.Ala80Pro) n.31G>C | |
1 | g.160042265C>T | CA343229079 | KCNJ10 | c.240G>A n.95-2917G>A c.268G>A (p.Ala90Thr) c.238G>A (p.Ala80Thr) n.31G>A | |
1 | g.160042266T>A | CA421597655 | KCNJ10 | c.239A>T n.95-2918A>T c.267A>T (p.Val89=) c.237A>T (p.Val79=) n.30A>T | |
1 | g.160042266T>C | CA421597653 | KCNJ10 | c.239A>G n.95-2918A>G c.267A>G (p.Val89=) c.237A>G (p.Val79=) n.30A>G | |
1 | g.160042266T>G | CA421597654 | KCNJ10 | c.239A>C n.95-2918A>C c.267A>C (p.Val89=) c.237A>C (p.Val79=) n.30A>C | |
1 | g.160042267A>C | CA343229083 | KCNJ10 | c.238T>G n.95-2919T>G c.266T>G (p.Val89Gly) c.236T>G (p.Val79Gly) n.29T>G | |
1 | g.160042267A>G | CA343229087 | KCNJ10 | c.238T>C n.95-2919T>C c.266T>C (p.Val89Ala) c.236T>C (p.Val79Ala) n.29T>C | gnomAD v4 |
1 | g.160042267A>T | CA343229091 | KCNJ10 | c.238T>A n.95-2919T>A c.266T>A (p.Val89Glu) c.236T>A (p.Val79Glu) n.29T>A | |
1 | g.160042268C>A | CA343229095 | KCNJ10 | c.237G>T n.95-2920G>T c.265G>T (p.Val89Leu) c.235G>T (p.Val79Leu) n.28G>T | |
1 | g.160042268C>G | CA343229103 | KCNJ10 | c.237G>C n.95-2920G>C c.265G>C (p.Val89Leu) c.235G>C (p.Val79Leu) n.28G>C | |
1 | g.160042268C>T | CA343229106 | KCNJ10 | c.237G>A n.95-2920G>A c.265G>A (p.Val89Ile) c.235G>A (p.Val79Ile) n.28G>A | ClinVar gnomAD v4 |
1 | g.160042269C>A | CA421597656 | KCNJ10 | c.236G>T n.95-2921G>T c.264G>T (p.Leu88=) c.234G>T (p.Leu78=) n.27G>T | |
1 | g.160042269C= | CA1202156899 | KCNJ10 | c.236G= n.95-2921G= c.264G= (p.Leu88=) c.234G= (p.Leu78=) n.27G= | |
1 | g.160042269C>G | CA421597657 | KCNJ10 | c.236G>C n.95-2921G>C c.264G>C (p.Leu88=) c.234G>C (p.Leu78=) n.27G>C | gnomAD v4 |
1 | g.160042269C>T | CA421597658 | KCNJ10 | c.236G>A n.95-2921G>A c.264G>A (p.Leu88=) c.234G>A (p.Leu78=) n.27G>A | ClinVar dbSNP |
1 | g.160042270A>C | CA343229129 | KCNJ10 | c.235T>G n.95-2922T>G c.263T>G (p.Leu88Arg) c.233T>G (p.Leu78Arg) n.26T>G | |
1 | g.160042270A>G | CA343229115 | KCNJ10 | c.235T>C n.95-2922T>C c.263T>C (p.Leu88Pro) c.233T>C (p.Leu78Pro) n.26T>C | |
1 | g.160042270A>T | CA343229111 | KCNJ10 | c.235T>A n.95-2922T>A c.263T>A (p.Leu88Gln) c.233T>A (p.Leu78Gln) n.26T>A | |
1 | g.160042271G>A | CA421597659 | KCNJ10 | c.234C>T n.95-2923C>T c.262C>T (p.Leu88=) c.232C>T (p.Leu78=) n.25C>T | |
1 | g.160042271G>C | CA343229133 | KCNJ10 | c.234C>G n.95-2923C>G c.262C>G (p.Leu88Val) c.232C>G (p.Leu78Val) n.25C>G | |
1 | g.160042271G>T | CA343229135 | KCNJ10 | c.234C>A n.95-2923C>A c.262C>A (p.Leu88Met) c.232C>A (p.Leu78Met) n.25C>A | |
1 | g.160042272A>C | CA343229136 | KCNJ10 | c.233T>G n.95-2924T>G c.261T>G (p.Tyr87Ter) c.231T>G (p.Tyr77Ter) n.24T>G | |
1 | g.160042272A>G | CA421597660 | KCNJ10 | c.233T>C n.95-2924T>C c.261T>C (p.Tyr87=) c.231T>C (p.Tyr77=) n.24T>C | |
1 | g.160042272A>T | CA343229137 | KCNJ10 | c.233T>A n.95-2924T>A c.261T>A (p.Tyr87Ter) c.231T>A (p.Tyr77Ter) n.24T>A | |
1 | g.160042273T>A | CA343229140 | KCNJ10 | c.232A>T n.95-2925A>T c.260A>T (p.Tyr87Phe) c.230A>T (p.Tyr77Phe) n.23A>T | |
1 | g.160042273T>C | CA343229142 | KCNJ10 | c.232A>G n.95-2925A>G c.260A>G (p.Tyr87Cys) c.230A>G (p.Tyr77Cys) n.23A>G | COSMIC COSMIC |
1 | g.160042273T>G | CA343229144 | KCNJ10 | c.232A>C n.95-2925A>C c.260A>C (p.Tyr87Ser) c.230A>C (p.Tyr77Ser) n.23A>C | |
1 | g.160042274A>C | CA343229154 | KCNJ10 | c.231T>G n.95-2926T>G c.259T>G (p.Tyr87Asp) c.229T>G (p.Tyr77Asp) n.22T>G | |
1 | g.160042274A>G | CA343229158 | KCNJ10 | c.231T>C n.95-2926T>C c.259T>C (p.Tyr87His) c.229T>C (p.Tyr77His) n.22T>C | |
1 | g.160042274A>T | CA343229155 | KCNJ10 | c.231T>A n.95-2926T>A c.259T>A (p.Tyr87Asn) c.229T>A (p.Tyr77Asn) n.22T>A | |
1 | g.160042275C>A | CA343229162 | KCNJ10 | c.230G>T n.95-2927G>T c.258G>T (p.Trp86Cys) c.228G>T (p.Trp76Cys) n.21G>T | |
1 | g.160042275C= | CA1202156900 | KCNJ10 | c.230G= n.95-2927G= c.258G= (p.Trp86=) c.228G= (p.Trp76=) n.21G= | |
1 | g.160042275C>G | CA343229164 | KCNJ10 | c.230G>C n.95-2927G>C c.258G>C (p.Trp86Cys) c.228G>C (p.Trp76Cys) n.21G>C | |
1 | g.160042275C>T | CA343229166 | KCNJ10 | c.230G>A n.95-2927G>A c.258G>A (p.Trp86Ter) c.228G>A (p.Trp76Ter) n.21G>A | dbSNP gnomAD v2 |
1 | g.160042276C>A | CA343229170 | KCNJ10 | c.229G>T n.95-2928G>T c.257G>T (p.Trp86Leu) c.227G>T (p.Trp76Leu) n.20G>T | |
1 | g.160042276C>G | CA343229173 | KCNJ10 | c.229G>C n.95-2928G>C c.257G>C (p.Trp86Ser) c.227G>C (p.Trp76Ser) n.20G>C | |
1 | g.160042276C>T | CA343229176 | KCNJ10 | c.229G>A n.95-2928G>A c.257G>A (p.Trp86Ter) c.227G>A (p.Trp76Ter) n.20G>A | gnomAD v4 |
1 | g.160042277A>C | CA343229188 | KCNJ10 | c.228T>G n.95-2929T>G c.256T>G (p.Trp86Gly) c.226T>G (p.Trp76Gly) n.19T>G | |
1 | g.160042277A>G | CA343229190 | KCNJ10 | c.228T>C n.95-2929T>C c.256T>C (p.Trp86Arg) c.226T>C (p.Trp76Arg) n.19T>C | |
1 | g.160042277A>T | CA343229193 | KCNJ10 | c.228T>A n.95-2929T>A c.256T>A (p.Trp86Arg) c.226T>A (p.Trp76Arg) n.19T>A | |
1 | g.160042278C>A | CA421597661 | KCNJ10 | c.227G>T n.95-2930G>T c.255G>T (p.Val85=) c.225G>T (p.Val75=) n.18G>T | |
1 | g.160042278C>G | CA421597662 | KCNJ10 | c.227G>C n.95-2930G>C c.255G>C (p.Val85=) c.225G>C (p.Val75=) n.18G>C | |
1 | g.160042278C>T | CA421597663 | KCNJ10 | c.227G>A n.95-2930G>A c.255G>A (p.Val85=) c.225G>A (p.Val75=) n.18G>A | |
1 | g.160042279A>C | CA343229197 | KCNJ10 | c.226T>G n.95-2931T>G c.254T>G (p.Val85Gly) c.224T>G (p.Val75Gly) n.17T>G | |
1 | g.160042279A>G | CA343229199 | KCNJ10 | c.226T>C n.95-2931T>C c.254T>C (p.Val85Ala) c.224T>C (p.Val75Ala) n.17T>C | |
1 | g.160042279A>T | CA343229202 | KCNJ10 | c.226T>A n.95-2931T>A c.254T>A (p.Val85Glu) c.224T>A (p.Val75Glu) n.17T>A | |
1 | g.160042280C>A | CA343229204 | KCNJ10 | c.225G>T n.95-2932G>T c.253G>T (p.Val85Leu) c.223G>T (p.Val75Leu) n.16G>T | gnomAD v4 |
1 | g.160042280C>G | CA343229212 | KCNJ10 | c.225G>C n.95-2932G>C c.253G>C (p.Val85Leu) c.223G>C (p.Val75Leu) n.16G>C | gnomAD v4 |
1 | g.160042280C>T | CA343229210 | KCNJ10 | c.225G>A n.95-2932G>A c.253G>A (p.Val85Met) c.223G>A (p.Val75Met) n.16G>A | gnomAD v4 |
1 | g.160042281C>A | CA421597664 | KCNJ10 | c.224G>T n.95-2933G>T c.252G>T (p.Val84=) c.222G>T (p.Val74=) n.15G>T | gnomAD v4 |
1 | g.160042281C= | CA1202156901 | KCNJ10 | c.224G= n.95-2933G= c.252G= (p.Val84=) c.222G= (p.Val74=) n.15G= | |
1 | g.160042281C>G | CA31471163 | KCNJ10 | c.224G>C n.95-2933G>C c.252G>C (p.Val84=) c.222G>C (p.Val74=) n.15G>C | dbSNP gnomAD v4 |
1 | g.160042281C>T | CA421597665 | KCNJ10 | c.224G>A n.95-2933G>A c.252G>A (p.Val84=) c.222G>A (p.Val74=) n.15G>A | |
1 | g.160042282A= | CA1202156902 | KCNJ10 | c.223T= n.95-2934T= c.251T= (p.Val84=) c.221T= (p.Val74=) n.14T= | |
1 | g.160042282A>C | CA343229215 | KCNJ10 | c.223T>G n.95-2934T>G c.251T>G (p.Val84Gly) c.221T>G (p.Val74Gly) n.14T>G | |
1 | g.160042282A>G | CA1193264 | KCNJ10 | c.223T>C n.95-2934T>C c.251T>C (p.Val84Ala) c.221T>C (p.Val74Ala) n.14T>C | dbSNP ExAC |
1 | g.160042282A>T | CA343229219 | KCNJ10 | c.223T>A n.95-2934T>A c.251T>A (p.Val84Glu) c.221T>A (p.Val74Glu) n.14T>A | |
1 | g.160042282_160042283insAA | CA2746335995 | KCNJ10 | c.223_224insTT n.95-2934_95-2933insTT c.251_252insTT (p.Val85TrpfsTer6) c.221_222insTT (p.Val75TrpfsTer6) n.14_15insTT | |
1 | g.160042283C>A | CA343229223 | KCNJ10 | c.222G>T n.95-2935G>T c.250G>T (p.Val84Leu) c.220G>T (p.Val74Leu) n.13G>T | |
1 | g.160042283C= | CA1141755887 | KCNJ10 | c.222G= n.95-2935G= c.250G= (p.Val84=) c.220G= (p.Val74=) n.13G= | |
1 | g.160042283C>G | CA343229226 | KCNJ10 | c.222G>C n.95-2935G>C c.250G>C (p.Val84Leu) c.220G>C (p.Val74Leu) n.13G>C | |
1 | g.160042283C>T | CA315265 | KCNJ10 | c.222G>A n.95-2935G>A c.250G>A (p.Val84Met) c.220G>A (p.Val74Met) n.13G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |