Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175096G>A | CA400859763 | KCNJ2 | c.57G>A (p.Met19Ile) | gnomAD v4 |
17 | g.70175096G>C | CA400859764 | KCNJ2 | c.57G>C (p.Met19Ile) | |
17 | g.70175096G>T | CA400859762 | KCNJ2 | c.57G>T (p.Met19Ile) | |
17 | g.70175097A>C | CA400859765 | KCNJ2 | c.58A>C (p.Lys20Gln) | |
17 | g.70175097A>G | CA400859766 | KCNJ2 | c.58A>G (p.Lys20Glu) | |
17 | g.70175097A>T | CA400859767 | KCNJ2 | c.58A>T (p.Lys20Ter) | |
17 | g.70175098A>C | CA400859768 | KCNJ2 | c.59A>C (p.Lys20Thr) | |
17 | g.70175098A>G | CA400859769 | KCNJ2 | c.59A>G (p.Lys20Arg) | |
17 | g.70175098A>T | CA400859770 | KCNJ2 | c.59A>T (p.Lys20Met) | |
17 | g.70175099G>A | CA8738686 | KCNJ2 | c.60G>A (p.Lys20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175099G>C | CA400859772 | KCNJ2 | c.60G>C (p.Lys20Asn) | |
17 | g.70175099G= | CA2272996428 | KCNJ2 | c.60G= (p.Lys20=) | |
17 | g.70175099G>T | CA400859771 | KCNJ2 | c.60G>T (p.Lys20Asn) | |
17 | g.70175100T>A | CA400859773 | KCNJ2 | c.61T>A (p.Leu21Met) | |
17 | g.70175100T>C | CA501700145 | KCNJ2 | c.61T>C (p.Leu21=) | |
17 | g.70175100T>G | CA400859774 | KCNJ2 | c.61T>G (p.Leu21Val) | |
17 | g.70175101T>A | CA400859775 | KCNJ2 | c.62T>A (p.Leu21Ter) | |
17 | g.70175101T>C | CA400859776 | KCNJ2 | c.62T>C (p.Leu21Ser) | |
17 | g.70175101T>G | CA400859777 | KCNJ2 | c.62T>G (p.Leu21Trp) | |
17 | g.70175102G>A | CA501700149 | KCNJ2 | c.63G>A (p.Leu21=) | |
17 | g.70175102G>C | CA400859779 | KCNJ2 | c.63G>C (p.Leu21Phe) | |
17 | g.70175102G>T | CA400859778 | KCNJ2 | c.63G>T (p.Leu21Phe) | dbSNP |
17 | g.70175103G>A | CA400859780 | KCNJ2 | c.64G>A (p.Ala22Thr) | gnomAD v4 |
17 | g.70175103G>C | CA400859782 | KCNJ2 | c.64G>C (p.Ala22Pro) | |
17 | g.70175103G>T | CA400859781 | KCNJ2 | c.64G>T (p.Ala22Ser) | |
17 | g.70175104C>A | CA400859783 | KCNJ2 | c.65C>A (p.Ala22Asp) | |
17 | g.70175104C>G | CA400859785 | KCNJ2 | c.65C>G (p.Ala22Gly) | |
17 | g.70175104C>T | CA400859784 | KCNJ2 | c.65C>T (p.Ala22Val) | |
17 | g.70175105C>A | CA501700153 | KCNJ2 | c.66C>A (p.Ala22=) | |
17 | g.70175105C>G | CA501700154 | KCNJ2 | c.66C>G (p.Ala22=) | |
17 | g.70175105C>T | CA501700155 | KCNJ2 | c.66C>T (p.Ala22=) | COSMIC |
17 | g.70175106A>C | CA400859786 | KCNJ2 | c.67A>C (p.Thr23Pro) | |
17 | g.70175106A>G | CA400859788 | KCNJ2 | c.67A>G (p.Thr23Ala) | |
17 | g.70175106A>T | CA400859787 | KCNJ2 | c.67A>T (p.Thr23Ser) | |
17 | g.70175107C>A | CA400859789 | KCNJ2 | c.68C>A (p.Thr23Asn) | |
17 | g.70175107C>G | CA400859791 | KCNJ2 | c.68C>G (p.Thr23Ser) | |
17 | g.70175107C>T | CA400859790 | KCNJ2 | c.68C>T (p.Thr23Ile) | |
17 | g.70175108C>A | CA501700157 | KCNJ2 | c.69C>A (p.Thr23=) | |
17 | g.70175108C>G | CA501700158 | KCNJ2 | c.69C>G (p.Thr23=) | |
17 | g.70175108C>T | CA501700159 | KCNJ2 | c.69C>T (p.Thr23=) | gnomAD v4 |
17 | g.70175109A= | CA2272996429 | KCNJ2 | c.70A= (p.Met24=) | |
17 | g.70175109A>C | CA400859792 | KCNJ2 | c.70A>C (p.Met24Leu) | |
17 | g.70175109A>G | CA400859793 | KCNJ2 | c.70A>G (p.Met24Val) | ClinVar dbSNP gnomAD v4 |
17 | g.70175109A>T | CA400859794 | KCNJ2 | c.70A>T (p.Met24Leu) | |
17 | g.70175110T>A | CA400859795 | KCNJ2 | c.71T>A (p.Met24Lys) | gnomAD v4 |
17 | g.70175110T>C | CA400859796 | KCNJ2 | c.71T>C (p.Met24Thr) | dbSNP |
17 | g.70175110T>G | CA400859797 | KCNJ2 | c.71T>G (p.Met24Arg) | |
17 | g.70175110T= | CA2272996430 | KCNJ2 | c.71T= (p.Met24=) | |
17 | g.70175111G>A | CA400859798 | KCNJ2 | c.72G>A (p.Met24Ile) | |
17 | g.70175111G>C | CA400859799 | KCNJ2 | c.72G>C (p.Met24Ile) | |
17 | g.70175111G>T | CA400859800 | KCNJ2 | c.72G>T (p.Met24Ile) | |
17 | g.70175112G>A | CA400859801 | KCNJ2 | c.73G>A (p.Ala25Thr) | COSMIC |
17 | g.70175112G>C | CA400859802 | KCNJ2 | c.73G>C (p.Ala25Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175112G= | CA2272996431 | KCNJ2 | c.73G= (p.Ala25=) | |
17 | g.70175112G>T | CA400859803 | KCNJ2 | c.73G>T (p.Ala25Ser) | |
17 | g.70175113C>A | CA400859806 | KCNJ2 | c.74C>A (p.Ala25Glu) | |
17 | g.70175113C>G | CA400859805 | KCNJ2 | c.74C>G (p.Ala25Gly) | |
17 | g.70175113C>T | CA400859804 | KCNJ2 | c.74C>T (p.Ala25Val) | gnomAD v4 |
17 | g.70175114A= | CA2272996432 | KCNJ2 | c.75A= (p.Ala25=) | |
17 | g.70175114A>C | CA501700163 | KCNJ2 | c.75A>C (p.Ala25=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175114A>G | CA501700164 | KCNJ2 | c.75A>G (p.Ala25=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175114A>T | CA501700165 | KCNJ2 | c.75A>T (p.Ala25=) | |
17 | g.70175115G>A | CA400859807 | KCNJ2 | c.76G>A (p.Val26Ile) | dbSNP |
17 | g.70175115G>C | CA400859808 | KCNJ2 | c.76G>C (p.Val26Leu) | |
17 | g.70175115G= | CA2272996433 | KCNJ2 | c.76G= (p.Val26=) | |
17 | g.70175115G>T | CA400859809 | KCNJ2 | c.76G>T (p.Val26Phe) | gnomAD v4 |
17 | g.70175116T>A | CA400859810 | KCNJ2 | c.77T>A (p.Val26Asp) | |
17 | g.70175116T>C | CA400859811 | KCNJ2 | c.77T>C (p.Val26Ala) | |
17 | g.70175116T>G | CA400859812 | KCNJ2 | c.77T>G (p.Val26Gly) | |
17 | g.70175117T>A | CA501700168 | KCNJ2 | c.78T>A (p.Val26=) | |
17 | g.70175117T>C | CA501700169 | KCNJ2 | c.78T>C (p.Val26=) | |
17 | g.70175117T>G | CA8738687 | KCNJ2 | c.78T>G (p.Val26=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175117T= | CA2272996434 | KCNJ2 | c.78T= (p.Val26=) | |
17 | g.70175118G>A | CA400859813 | KCNJ2 | c.79G>A (p.Ala27Thr) | |
17 | g.70175118G>C | CA400859814 | KCNJ2 | c.79G>C (p.Ala27Pro) | |
17 | g.70175118G>T | CA400859815 | KCNJ2 | c.79G>T (p.Ala27Ser) | |
17 | g.70175119C>A | CA400859816 | KCNJ2 | c.80C>A (p.Ala27Glu) | |
17 | g.70175119C>G | CA400859817 | KCNJ2 | c.80C>G (p.Ala27Gly) | |
17 | g.70175119C>T | CA400859818 | KCNJ2 | c.80C>T (p.Ala27Val) | |
17 | g.70175120A= | CA2272996435 | KCNJ2 | c.81A= (p.Ala27=) | |
17 | g.70175120A>C | CA501700175 | KCNJ2 | c.81A>C (p.Ala27=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175120A>G | CA501700177 | KCNJ2 | c.81A>G (p.Ala27=) | |
17 | g.70175120A>T | CA501700178 | KCNJ2 | c.81A>T (p.Ala27=) | |
17 | g.70175122dup | CA501700179 | KCNJ2 | c.83dup (p.Asn28LysfsTer9) | |
17 | g.70175121A>C | CA400859820 | KCNJ2 | c.82A>C (p.Asn28His) | |
17 | g.70175121A>G | CA400859821 | KCNJ2 | c.82A>G (p.Asn28Asp) | |
17 | g.70175121A>T | CA400859819 | KCNJ2 | c.82A>T (p.Asn28Tyr) | |
17 | g.70175122A= | CA2272996436 | KCNJ2 | c.83A= (p.Asn28=) | |
17 | g.70175122A>C | CA400859822 | KCNJ2 | c.83A>C (p.Asn28Thr) | |
17 | g.70175122A>G | CA400859823 | KCNJ2 | c.83A>G (p.Asn28Ser) | ClinVar dbSNP |
17 | g.70175122A>T | CA400859824 | KCNJ2 | c.83A>T (p.Asn28Ile) | |
17 | g.70175123T>A | CA400859825 | KCNJ2 | c.84T>A (p.Asn28Lys) | |
17 | g.70175123T>C | CA501700183 | KCNJ2 | c.84T>C (p.Asn28=) | |
17 | g.70175123T>G | CA400859826 | KCNJ2 | c.84T>G (p.Asn28Lys) | |
17 | g.70175124G>A | CA400859827 | KCNJ2 | c.85G>A (p.Gly29Ser) | |
17 | g.70175124G>C | CA400859828 | KCNJ2 | c.85G>C (p.Gly29Arg) | |
17 | g.70175124G>T | CA400859829 | KCNJ2 | c.85G>T (p.Gly29Cys) | |
17 | g.70175125G>A | CA400859830 | KCNJ2 | c.86G>A (p.Gly29Asp) | COSMIC |
17 | g.70175125G>C | CA400859831 | KCNJ2 | c.86G>C (p.Gly29Ala) | gnomAD v4 |
17 | g.70175125G>T | CA400859832 | KCNJ2 | c.86G>T (p.Gly29Val) | gnomAD v4 |
17 | g.70175126C>A | CA501700194 | KCNJ2 | c.87C>A (p.Gly29=) | ClinVar dbSNP |
17 | g.70175126C= | CA2272996437 | KCNJ2 | c.87C= (p.Gly29=) | |
17 | g.70175126C>G | CA501700192 | KCNJ2 | c.87C>G (p.Gly29=) | |
17 | g.70175126C>T | CA293702898 | KCNJ2 | c.87C>T (p.Gly29=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175127T>A | CA400859835 | KCNJ2 | c.88T>A (p.Phe30Ile) | |
17 | g.70175127T>C | CA400859833 | KCNJ2 | c.88T>C (p.Phe30Leu) | |
17 | g.70175127T>G | CA400859834 | KCNJ2 | c.88T>G (p.Phe30Val) | |
17 | g.70175128T>A | CA400859836 | KCNJ2 | c.89T>A (p.Phe30Tyr) | gnomAD v4 |
17 | g.70175128T>C | CA400859837 | KCNJ2 | c.89T>C (p.Phe30Ser) | ClinVar gnomAD v4 |
17 | g.70175128T>G | CA400859838 | KCNJ2 | c.89T>G (p.Phe30Cys) | |
17 | g.70175129T>A | CA400859839 | KCNJ2 | c.90T>A (p.Phe30Leu) | |
17 | g.70175129T>C | CA501700195 | KCNJ2 | c.90T>C (p.Phe30=) | |
17 | g.70175129T>G | CA400859840 | KCNJ2 | c.90T>G (p.Phe30Leu) | gnomAD v4 |
17 | g.70175130G>A | CA400859841 | KCNJ2 | c.91G>A (p.Gly31Arg) | |
17 | g.70175130G>C | CA400859842 | KCNJ2 | c.91G>C (p.Gly31Arg) | |
17 | g.70175130G>T | CA400859843 | KCNJ2 | c.91G>T (p.Gly31Trp) | |
17 | g.70175131G>A | CA400859844 | KCNJ2 | c.92G>A (p.Gly31Glu) | gnomAD v4 |
17 | g.70175131G>C | CA400859845 | KCNJ2 | c.92G>C (p.Gly31Ala) | |
17 | g.70175131G>T | CA400859846 | KCNJ2 | c.92G>T (p.Gly31Val) | dbSNP COSMIC |
17 | g.70175132G>A | CA501700197 | KCNJ2 | c.93G>A (p.Gly31=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175132G>C | CA501700198 | KCNJ2 | c.93G>C (p.Gly31=) | gnomAD v4 |
17 | g.70175132G= | CA2272996438 | KCNJ2 | c.93G= (p.Gly31=) | |
17 | g.70175132G>T | CA501700199 | KCNJ2 | c.93G>T (p.Gly31=) | |
17 | g.70175133A>C | CA400859848 | KCNJ2 | c.94A>C (p.Asn32His) | |
17 | g.70175133A>G | CA400859849 | KCNJ2 | c.94A>G (p.Asn32Asp) | |
17 | g.70175133A>T | CA400859847 | KCNJ2 | c.94A>T (p.Asn32Tyr) | |
17 | g.70175134A>C | CA400859850 | KCNJ2 | c.95A>C (p.Asn32Thr) | |
17 | g.70175134A>G | CA400859851 | KCNJ2 | c.95A>G (p.Asn32Ser) | gnomAD v4 |
17 | g.70175134A>T | CA400859852 | KCNJ2 | c.95A>T (p.Asn32Ile) | |
17 | g.70175134_70175137del | CA2695226993 | KCNJ2 | c.95_98del (p.Asn32ArgfsTer16) | |
17 | g.70175135C>A | CA400859853 | KCNJ2 | c.96C>A (p.Asn32Lys) | gnomAD v4 |
17 | g.70175135C= | CA2272996439 | KCNJ2 | c.96C= (p.Asn32=) | |
17 | g.70175135C>G | CA400859854 | KCNJ2 | c.96C>G (p.Asn32Lys) | ClinVar |
17 | g.70175135C>T | CA8738688 | KCNJ2 | c.96C>T (p.Asn32=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175136G>A | CA400859855 | KCNJ2 | c.97G>A (p.Gly33Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175136G>C | CA293702899 | KCNJ2 | c.97G>C (p.Gly33Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.70175136G= | CA2272996440 | KCNJ2 | c.97G= (p.Gly33=) | |
17 | g.70175136G>T | CA400859856 | KCNJ2 | c.97G>T (p.Gly33Trp) | |
17 | g.70175137G>A | CA400859857 | KCNJ2 | c.98G>A (p.Gly33Glu) | |
17 | g.70175137G>C | CA400859858 | KCNJ2 | c.98G>C (p.Gly33Ala) | |
17 | g.70175137G>T | CA400859859 | KCNJ2 | c.98G>T (p.Gly33Val) | |
17 | g.70175138G>A | CA8738689 | KCNJ2 | c.99G>A (p.Gly33=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175138G>C | CA501700201 | KCNJ2 | c.99G>C (p.Gly33=) | |
17 | g.70175138G= | CA2272996441 | KCNJ2 | c.99G= (p.Gly33=) | |
17 | g.70175138G>T | CA501700203 | KCNJ2 | c.99G>T (p.Gly33=) | |
17 | g.70175139A>C | CA400859862 | KCNJ2 | c.100A>C (p.Lys34Gln) | |
17 | g.70175139A>G | CA400859860 | KCNJ2 | c.100A>G (p.Lys34Glu) | |
17 | g.70175139A>T | CA400859861 | KCNJ2 | c.100A>T (p.Lys34Ter) | |
17 | g.70175140A= | CA2272996442 | KCNJ2 | c.101A= (p.Lys34=) | |
17 | g.70175140A>C | CA400859863 | KCNJ2 | c.101A>C (p.Lys34Thr) | gnomAD v4 |
17 | g.70175140A>G | CA8738690 | KCNJ2 | c.101A>G (p.Lys34Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175140A>T | CA400859864 | KCNJ2 | c.101A>T (p.Lys34Met) | |
17 | g.70175141G>A | CA501700205 | KCNJ2 | c.102G>A (p.Lys34=) | ClinVar dbSNP |
17 | g.70175141G>C | CA400859865 | KCNJ2 | c.102G>C (p.Lys34Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175141G= | CA2272996443 | KCNJ2 | c.102G= (p.Lys34=) | |
17 | g.70175141G>T | CA400859866 | KCNJ2 | c.102G>T (p.Lys34Asn) | ClinVar dbSNP COSMIC |
17 | g.70175142A= | CA2272996444 | KCNJ2 | c.103A= (p.Ser35=) | |
17 | g.70175142A>C | CA400859867 | KCNJ2 | c.103A>C (p.Ser35Arg) | |
17 | g.70175142A>G | CA400859868 | KCNJ2 | c.103A>G (p.Ser35Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175142A>T | CA400859869 | KCNJ2 | c.103A>T (p.Ser35Cys) | |
17 | g.70175143G>A | CA400859870 | KCNJ2 | c.104G>A (p.Ser35Asn) | |
17 | g.70175143G>C | CA8738691 | KCNJ2 | c.104G>C (p.Ser35Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175143G= | CA2272996445 | KCNJ2 | c.104G= (p.Ser35=) | |
17 | g.70175143G>T | CA400859871 | KCNJ2 | c.104G>T (p.Ser35Ile) | |
17 | g.70175144T>A | CA400859872 | KCNJ2 | c.105T>A (p.Ser35Arg) | |
17 | g.70175144T>C | CA501700209 | KCNJ2 | c.105T>C (p.Ser35=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175144T>G | CA400859873 | KCNJ2 | c.105T>G (p.Ser35Arg) | |
17 | g.70175144T= | CA2272996446 | KCNJ2 | c.105T= (p.Ser35=) | |
17 | g.70175145A>C | CA400859874 | KCNJ2 | c.106A>C (p.Lys36Gln) | |
17 | g.70175145A>G | CA400859876 | KCNJ2 | c.106A>G (p.Lys36Glu) | ClinVar gnomAD v4 |
17 | g.70175145A>T | CA400859875 | KCNJ2 | c.106A>T (p.Lys36Ter) | |
17 | g.70175146A>C | CA400859877 | KCNJ2 | c.107A>C (p.Lys36Thr) | gnomAD v4 |
17 | g.70175146A>G | CA400859878 | KCNJ2 | c.107A>G (p.Lys36Arg) | |
17 | g.70175146A>T | CA400859879 | KCNJ2 | c.107A>T (p.Lys36Ile) | |
17 | g.70175147A>C | CA400859880 | KCNJ2 | c.108A>C (p.Lys36Asn) | |
17 | g.70175147A>G | CA501700214 | KCNJ2 | c.108A>G (p.Lys36=) | |
17 | g.70175147A>T | CA400859881 | KCNJ2 | c.108A>T (p.Lys36Asn) | |
17 | g.70175148del | CA2639594070 | KCNJ2 | c.109del (p.Val37SerfsTer12) | gnomAD v4 |
17 | g.70175148G>A | CA400859884 | KCNJ2 | c.109G>A (p.Val37Ile) | ClinVar |
17 | g.70175148G>C | CA400859883 | KCNJ2 | c.109G>C (p.Val37Leu) | |
17 | g.70175148G>T | CA400859882 | KCNJ2 | c.109G>T (p.Val37Phe) | |
17 | g.70175149T>A | CA400859885 | KCNJ2 | c.110T>A (p.Val37Asp) | |
17 | g.70175149T>C | CA400859886 | KCNJ2 | c.110T>C (p.Val37Ala) | |
17 | g.70175149T>G | CA400859887 | KCNJ2 | c.110T>G (p.Val37Gly) | |
17 | g.70175150C>A | CA501700222 | KCNJ2 | c.111C>A (p.Val37=) | |
17 | g.70175150C>G | CA501700217 | KCNJ2 | c.111C>G (p.Val37=) | |
17 | g.70175150C>T | CA501700219 | KCNJ2 | c.111C>T (p.Val37=) | gnomAD v4 |
17 | g.70175151C>A | CA400859888 | KCNJ2 | c.112C>A (p.His38Asn) | |
17 | g.70175151C= | CA2272996447 | KCNJ2 | c.112C= (p.His38=) | |
17 | g.70175151C>G | CA400859889 | KCNJ2 | c.112C>G (p.His38Asp) | |
17 | g.70175151C>T | CA400859890 | KCNJ2 | c.112C>T (p.His38Tyr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175152A>C | CA400859891 | KCNJ2 | c.113A>C (p.His38Pro) | |
17 | g.70175152A>G | CA400859893 | KCNJ2 | c.113A>G (p.His38Arg) | |
17 | g.70175152A>T | CA400859892 | KCNJ2 | c.113A>T (p.His38Leu) | |
17 | g.70175153C>A | CA400859894 | KCNJ2 | c.114C>A (p.His38Gln) | |
17 | g.70175153C>G | CA400859895 | KCNJ2 | c.114C>G (p.His38Gln) | |
17 | g.70175153C>T | CA501700227 | KCNJ2 | c.114C>T (p.His38=) | ClinVar gnomAD v4 |
17 | g.70175154A= | CA2272996448 | KCNJ2 | c.115A= (p.Thr39=) | |
17 | g.70175154A>C | CA400859896 | KCNJ2 | c.115A>C (p.Thr39Pro) | dbSNP |
17 | g.70175154A>G | CA400859897 | KCNJ2 | c.115A>G (p.Thr39Ala) | gnomAD v4 |
17 | g.70175154A>T | CA400859898 | KCNJ2 | c.115A>T (p.Thr39Ser) | |
17 | g.70175155C>A | CA400859899 | KCNJ2 | c.116C>A (p.Thr39Asn) | |
17 | g.70175155C= | CA2272996449 | KCNJ2 | c.116C= (p.Thr39=) | |
17 | g.70175155C>G | CA400859900 | KCNJ2 | c.116C>G (p.Thr39Ser) | |
17 | g.70175155C>T | CA400859901 | KCNJ2 | c.116C>T (p.Thr39Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175156C>A | CA501700231 | KCNJ2 | c.117C>A (p.Thr39=) | |
17 | g.70175156C>G | CA501700234 | KCNJ2 | c.117C>G (p.Thr39=) | |
17 | g.70175156C>T | CA501700237 | KCNJ2 | c.117C>T (p.Thr39=) | |
17 | g.70175157C>A | CA501700238 | KCNJ2 | c.118C>A (p.Arg40=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175157C= | CA2272996450 | KCNJ2 | c.118C= (p.Arg40=) | |
17 | g.70175157C>G | CA400859902 | KCNJ2 | c.118C>G (p.Arg40Gly) | |
17 | g.70175157C>T | CA302012 | KCNJ2 | c.118C>T (p.Arg40Ter) | ClinVar dbSNP |
17 | g.70175158G>A | CA8738692 | KCNJ2 | c.119G>A (p.Arg40Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175158G>C | CA16615669 | KCNJ2 | c.119G>C (p.Arg40Pro) | ClinVar dbSNP |
17 | g.70175158G= | CA2272996451 | KCNJ2 | c.119G= (p.Arg40=) | |
17 | g.70175158G>T | CA400859903 | KCNJ2 | c.119G>T (p.Arg40Leu) | ClinVar gnomAD v4 |
17 | g.70175158_70175161delinsGACA | CA2272996452 | KCNJ2 | c.119_122delinsGACA (p.Arg40=) | |
17 | g.70175159A= | CA2272996453 | KCNJ2 | c.120A= (p.Arg40=) | |
17 | g.70175159A>C | CA501700242 | KCNJ2 | c.120A>C (p.Arg40=) | |
17 | g.70175159A>G | CA501700244 | KCNJ2 | c.120A>G (p.Arg40=) | dbSNP gnomAD v4 |
17 | g.70175159A>T | CA501700245 | KCNJ2 | c.120A>T (p.Arg40=) | |
17 | g.70175162_70175164del | CA627589830 | KCNJ2 | c.123_125del (p.Gln42del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175160C>A | CA400859904 | KCNJ2 | c.121C>A (p.Gln41Lys) | gnomAD v4 |
17 | g.70175160C>G | CA400859906 | KCNJ2 | c.121C>G (p.Gln41Glu) | |
17 | g.70175160C>T | CA400859905 | KCNJ2 | c.121C>T (p.Gln41Ter) | COSMIC |
17 | g.70175161A= | CA2272996454 | KCNJ2 | c.122A= (p.Gln41=) | |
17 | g.70175161A>C | CA400859907 | KCNJ2 | c.122A>C (p.Gln41Pro) | |
17 | g.70175161A>G | CA400859908 | KCNJ2 | c.122A>G (p.Gln41Arg) | dbSNP gnomAD v4 |
17 | g.70175161A>T | CA400859909 | KCNJ2 | c.122A>T (p.Gln41Leu) | |
17 | g.70175162A>C | CA400859910 | KCNJ2 | c.123A>C (p.Gln41His) | |
17 | g.70175162A>G | CA501700250 | KCNJ2 | c.123A>G (p.Gln41=) | |
17 | g.70175162A>T | CA400859911 | KCNJ2 | c.123A>T (p.Gln41His) | |
17 | g.70175163C>A | CA400859912 | KCNJ2 | c.124C>A (p.Gln42Lys) | |
17 | g.70175163C>G | CA400859913 | KCNJ2 | c.124C>G (p.Gln42Glu) | |
17 | g.70175163C>T | CA400859914 | KCNJ2 | c.124C>T (p.Gln42Ter) | |
17 | g.70175164A>C | CA400859915 | KCNJ2 | c.125A>C (p.Gln42Pro) | |
17 | g.70175164A>G | CA400859916 | KCNJ2 | c.125A>G (p.Gln42Arg) | |
17 | g.70175164A>T | CA400859917 | KCNJ2 | c.125A>T (p.Gln42Leu) | |
17 | g.70175165G>A | CA501700254 | KCNJ2 | c.126G>A (p.Gln42=) | ClinVar dbSNP |
17 | g.70175165G>C | CA400859918 | KCNJ2 | c.126G>C (p.Gln42His) | |
17 | g.70175165G>T | CA400859919 | KCNJ2 | c.126G>T (p.Gln42His) | |
17 | g.70175166T>A | CA400859922 | KCNJ2 | c.127T>A (p.Cys43Ser) | |
17 | g.70175166T>C | CA400859921 | KCNJ2 | c.127T>C (p.Cys43Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.70175166T>G | CA400859920 | KCNJ2 | c.127T>G (p.Cys43Gly) | |
17 | g.70175166T= | CA2272996455 | KCNJ2 | c.127T= (p.Cys43=) | |
17 | g.70175167G>A | CA8738693 | KCNJ2 | c.128G>A (p.Cys43Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175167G>C | CA400859923 | KCNJ2 | c.128G>C (p.Cys43Ser) | |
17 | g.70175167G= | CA2272996456 | KCNJ2 | c.128G= (p.Cys43=) | |
17 | g.70175167G>T | CA293702900 | KCNJ2 | c.128G>T (p.Cys43Phe) | dbSNP |
17 | g.70175168C>A | CA400859924 | KCNJ2 | c.129C>A (p.Cys43Ter) | |
17 | g.70175168C>G | CA400859925 | KCNJ2 | c.129C>G (p.Cys43Trp) | |
17 | g.70175168C>T | CA501700258 | KCNJ2 | c.129C>T (p.Cys43=) | |
17 | g.70175169A>C | CA501700260 | KCNJ2 | c.130A>C (p.Arg44=) | |
17 | g.70175169A>G | CA400859926 | KCNJ2 | c.130A>G (p.Arg44Gly) | |
17 | g.70175169A>T | CA400859927 | KCNJ2 | c.130A>T (p.Arg44Trp) | |
17 | g.70175170G>A | CA400859928 | KCNJ2 | c.131G>A (p.Arg44Lys) | ClinVar dbSNP |
17 | g.70175170G>C | CA400859929 | KCNJ2 | c.131G>C (p.Arg44Thr) | |
17 | g.70175170G>T | CA400859930 | KCNJ2 | c.131G>T (p.Arg44Met) | |
17 | g.70175171G>A | CA8738694 | KCNJ2 | c.132G>A (p.Arg44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175171G>C | CA400859931 | KCNJ2 | c.132G>C (p.Arg44Ser) | |
17 | g.70175171G= | CA2272996457 | KCNJ2 | c.132G= (p.Arg44=) | |
17 | g.70175171G>T | CA400859932 | KCNJ2 | c.132G>T (p.Arg44Ser) | |
17 | g.70175172A>C | CA400859934 | KCNJ2 | c.133A>C (p.Ser45Arg) | |
17 | g.70175172A>G | CA400859935 | KCNJ2 | c.133A>G (p.Ser45Gly) | |
17 | g.70175172A>T | CA400859933 | KCNJ2 | c.133A>T (p.Ser45Cys) | gnomAD v4 |
17 | g.70175173G>A | CA400859936 | KCNJ2 | c.134G>A (p.Ser45Asn) | |
17 | g.70175173G>C | CA400859937 | KCNJ2 | c.134G>C (p.Ser45Thr) | |
17 | g.70175173G>T | CA400859938 | KCNJ2 | c.134G>T (p.Ser45Ile) | |
17 | g.70175174C>A | CA400859939 | KCNJ2 | c.135C>A (p.Ser45Arg) | gnomAD v4 |
17 | g.70175174C= | CA2272996458 | KCNJ2 | c.135C= (p.Ser45=) | |
17 | g.70175174C>G | CA400859940 | KCNJ2 | c.135C>G (p.Ser45Arg) | |
17 | g.70175174C>T | CA501700268 | KCNJ2 | c.135C>T (p.Ser45=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175175C>A | CA400859941 | KCNJ2 | c.136C>A (p.Arg46Ser) | dbSNP |
17 | g.70175175C= | CA2272996459 | KCNJ2 | c.136C= (p.Arg46=) | |
17 | g.70175175C>G | CA400859942 | KCNJ2 | c.136C>G (p.Arg46Gly) | ClinVar dbSNP |
17 | g.70175175C>T | CA400859943 | KCNJ2 | c.136C>T (p.Arg46Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.70175176G>A | CA400859944 | KCNJ2 | c.137G>A (p.Arg46His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175176G>C | CA400859945 | KCNJ2 | c.137G>C (p.Arg46Pro) | gnomAD v4 |
17 | g.70175176G= | CA2272996460 | KCNJ2 | c.137G= (p.Arg46=) | |
17 | g.70175176G>T | CA400859946 | KCNJ2 | c.137G>T (p.Arg46Leu) | |
17 | g.70175177C>A | CA501700273 | KCNJ2 | c.138C>A (p.Arg46=) | |
17 | g.70175177C= | CA2272996461 | KCNJ2 | c.138C= (p.Arg46=) | |
17 | g.70175177C>G | CA501700274 | KCNJ2 | c.138C>G (p.Arg46=) | |
17 | g.70175177C>T | CA293702901 | KCNJ2 | c.138C>T (p.Arg46=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175178T>A | CA400859949 | KCNJ2 | c.139T>A (p.Phe47Ile) | |
17 | g.70175178T>C | CA400859948 | KCNJ2 | c.139T>C (p.Phe47Leu) | |
17 | g.70175178T>G | CA400859947 | KCNJ2 | c.139T>G (p.Phe47Val) | |
17 | g.70175179T>A | CA400859950 | KCNJ2 | c.140T>A (p.Phe47Tyr) | |
17 | g.70175179T>C | CA400859951 | KCNJ2 | c.140T>C (p.Phe47Ser) | |
17 | g.70175179T>G | CA400859952 | KCNJ2 | c.140T>G (p.Phe47Cys) | |
17 | g.70175180T>A | CA400859953 | KCNJ2 | c.141T>A (p.Phe47Leu) | |
17 | g.70175180T>C | CA501700278 | KCNJ2 | c.141T>C (p.Phe47=) | |
17 | g.70175180T>G | CA400859954 | KCNJ2 | c.141T>G (p.Phe47Leu) | |
17 | g.70175181G>A | CA400859955 | KCNJ2 | c.142G>A (p.Val48Met) | ClinVar |
17 | g.70175181G>C | CA400859956 | KCNJ2 | c.142G>C (p.Val48Leu) | |
17 | g.70175181G>T | CA400859957 | KCNJ2 | c.142G>T (p.Val48Leu) | |
17 | g.70175182T>A | CA400859958 | KCNJ2 | c.143T>A (p.Val48Glu) | |
17 | g.70175182T>C | CA400859959 | KCNJ2 | c.143T>C (p.Val48Ala) | |
17 | g.70175182T>G | CA400859960 | KCNJ2 | c.143T>G (p.Val48Gly) | |
17 | g.70175183G>A | CA501700284 | KCNJ2 | c.144G>A (p.Val48=) | |
17 | g.70175183G>C | CA501700285 | KCNJ2 | c.144G>C (p.Val48=) | |
17 | g.70175183G>T | CA501700286 | KCNJ2 | c.144G>T (p.Val48=) | |
17 | g.70175184A>C | CA400859963 | KCNJ2 | c.145A>C (p.Lys49Gln) | |
17 | g.70175184A>G | CA400859962 | KCNJ2 | c.145A>G (p.Lys49Glu) | |
17 | g.70175184A>T | CA400859961 | KCNJ2 | c.145A>T (p.Lys49Ter) | |
17 | g.70175185A>C | CA400859964 | KCNJ2 | c.146A>C (p.Lys49Thr) | |
17 | g.70175185A>G | CA400859966 | KCNJ2 | c.146A>G (p.Lys49Arg) | gnomAD v4 |
17 | g.70175185A>T | CA400859965 | KCNJ2 | c.146A>T (p.Lys49Met) | |
17 | g.70175186G>A | CA8738695 | KCNJ2 | c.147G>A (p.Lys49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175186G>C | CA400859967 | KCNJ2 | c.147G>C (p.Lys49Asn) | |
17 | g.70175186G= | CA2272996462 | KCNJ2 | c.147G= (p.Lys49=) | |
17 | g.70175186G>T | CA400859968 | KCNJ2 | c.147G>T (p.Lys49Asn) | |
17 | g.70175187A>C | CA400859969 | KCNJ2 | c.148A>C (p.Lys50Gln) | gnomAD v4 |
17 | g.70175187A>G | CA400859970 | KCNJ2 | c.148A>G (p.Lys50Glu) | |
17 | g.70175187A>T | CA400859971 | KCNJ2 | c.148A>T (p.Lys50Ter) | |
17 | g.70175188A>C | CA400859972 | KCNJ2 | c.149A>C (p.Lys50Thr) | |
17 | g.70175188A>G | CA400859973 | KCNJ2 | c.149A>G (p.Lys50Arg) | ClinVar dbSNP |
17 | g.70175188A>T | CA400859974 | KCNJ2 | c.149A>T (p.Lys50Ile) | |
17 | g.70175189A>C | CA400859975 | KCNJ2 | c.150A>C (p.Lys50Asn) | |
17 | g.70175189A>G | CA501700297 | KCNJ2 | c.150A>G (p.Lys50=) | gnomAD v4 |
17 | g.70175189A>T | CA400859976 | KCNJ2 | c.150A>T (p.Lys50Asn) | |
17 | g.70175190G>A | CA400859979 | KCNJ2 | c.151G>A (p.Asp51Asn) | |
17 | g.70175190G>C | CA400859977 | KCNJ2 | c.151G>C (p.Asp51His) | COSMIC |
17 | g.70175190G>T | CA400859978 | KCNJ2 | c.151G>T (p.Asp51Tyr) | |
17 | g.70175191A= | CA2272996463 | KCNJ2 | c.152A= (p.Asp51=) | |
17 | g.70175191A>C | CA400859980 | KCNJ2 | c.152A>C (p.Asp51Ala) | |
17 | g.70175191A>G | CA400859981 | KCNJ2 | c.152A>G (p.Asp51Gly) | dbSNP |
17 | g.70175191A>T | CA400859982 | KCNJ2 | c.152A>T (p.Asp51Val) | |
17 | g.70175192T>A | CA400859983 | KCNJ2 | c.153T>A (p.Asp51Glu) | |
17 | g.70175192T>C | CA501700299 | KCNJ2 | c.153T>C (p.Asp51=) | gnomAD v4 |
17 | g.70175192T>G | CA400859984 | KCNJ2 | c.153T>G (p.Asp51Glu) | |
17 | g.70175193G>A | CA400859985 | KCNJ2 | c.154G>A (p.Gly52Ser) | |
17 | g.70175193G>C | CA400859986 | KCNJ2 | c.154G>C (p.Gly52Arg) | |
17 | g.70175193G>T | CA400859987 | KCNJ2 | c.154G>T (p.Gly52Cys) | |
17 | g.70175194G>A | CA400859988 | KCNJ2 | c.155G>A (p.Gly52Asp) | |
17 | g.70175194G>C | CA400859989 | KCNJ2 | c.155G>C (p.Gly52Ala) | |
17 | g.70175194G= | CA2272996464 | KCNJ2 | c.155G= (p.Gly52=) | |
17 | g.70175194G>T | CA400859990 | KCNJ2 | c.155G>T (p.Gly52Val) | ClinVar dbSNP |
17 | g.70175195C>A | CA501700302 | KCNJ2 | c.156C>A (p.Gly52=) | |
17 | g.70175195C>G | CA501700303 | KCNJ2 | c.156C>G (p.Gly52=) | |
17 | g.70175195C>T | CA501700304 | KCNJ2 | c.156C>T (p.Gly52=) | |
17 | g.70175196C>A | CA400859992 | KCNJ2 | c.157C>A (p.His53Asn) | |
17 | g.70175196C>G | CA400859993 | KCNJ2 | c.157C>G (p.His53Asp) | |
17 | g.70175196C>T | CA400859991 | KCNJ2 | c.157C>T (p.His53Tyr) |