Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175069C>A | CA400859703 | KCNJ2 | c.30C>A (p.Ser10Arg) | |
17 | g.70175069C>G | CA400859704 | KCNJ2 | c.30C>G (p.Ser10Arg) | |
17 | g.70175069C>T | CA501700105 | KCNJ2 | c.30C>T (p.Ser10=) | |
17 | g.70175070A= | CA2272996415 | KCNJ2 | c.31A= (p.Ile11=) | |
17 | g.70175070A>C | CA400859706 | KCNJ2 | c.31A>C (p.Ile11Leu) | |
17 | g.70175070A>G | CA293702896 | KCNJ2 | c.31A>G (p.Ile11Val) | ClinVar dbSNP |
17 | g.70175070A>T | CA400859705 | KCNJ2 | c.31A>T (p.Ile11Phe) | |
17 | g.70175071T>A | CA400859707 | KCNJ2 | c.32T>A (p.Ile11Asn) | |
17 | g.70175071T>C | CA400859708 | KCNJ2 | c.32T>C (p.Ile11Thr) | |
17 | g.70175071T>G | CA400859709 | KCNJ2 | c.32T>G (p.Ile11Ser) | |
17 | g.70175072C>A | CA501700109 | KCNJ2 | c.33C>A (p.Ile11=) | |
17 | g.70175072C= | CA2272996416 | KCNJ2 | c.33C= (p.Ile11=) | |
17 | g.70175072C>G | CA400859710 | KCNJ2 | c.33C>G (p.Ile11Met) | |
17 | g.70175072C>T | CA501700110 | KCNJ2 | c.33C>T (p.Ile11=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.70175073G>A | CA400859711 | KCNJ2 | c.34G>A (p.Val12Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175073G>C | CA400859712 | KCNJ2 | c.34G>C (p.Val12Leu) | |
17 | g.70175073G= | CA2272996417 | KCNJ2 | c.34G= (p.Val12=) | |
17 | g.70175073G>T | CA400859713 | KCNJ2 | c.34G>T (p.Val12Phe) | |
17 | g.70175074T>A | CA400859714 | KCNJ2 | c.35T>A (p.Val12Asp) | |
17 | g.70175074T>C | CA400859715 | KCNJ2 | c.35T>C (p.Val12Ala) | gnomAD v4 |
17 | g.70175074T>G | CA400859716 | KCNJ2 | c.35T>G (p.Val12Gly) | |
17 | g.70175075C>A | CA501700113 | KCNJ2 | c.36C>A (p.Val12=) | |
17 | g.70175075C= | CA2272996418 | KCNJ2 | c.36C= (p.Val12=) | |
17 | g.70175075C>G | CA501700114 | KCNJ2 | c.36C>G (p.Val12=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175075C>T | CA501700115 | KCNJ2 | c.36C>T (p.Val12=) | gnomAD v4 |
17 | g.70175076T>A | CA400859717 | KCNJ2 | c.37T>A (p.Ser13Thr) | |
17 | g.70175076T>C | CA400859718 | KCNJ2 | c.37T>C (p.Ser13Pro) | |
17 | g.70175076T>G | CA400859719 | KCNJ2 | c.37T>G (p.Ser13Ala) | |
17 | g.70175077C>A | CA400859721 | KCNJ2 | c.38C>A (p.Ser13Tyr) | |
17 | g.70175077C>G | CA400859722 | KCNJ2 | c.38C>G (p.Ser13Cys) | |
17 | g.70175077C>T | CA400859720 | KCNJ2 | c.38C>T (p.Ser13Phe) | |
17 | g.70175078T>A | CA501700118 | KCNJ2 | c.39T>A (p.Ser13=) | |
17 | g.70175078T>C | CA501700119 | KCNJ2 | c.39T>C (p.Ser13=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175078T>G | CA501700120 | KCNJ2 | c.39T>G (p.Ser13=) | |
17 | g.70175078T= | CA2272996419 | KCNJ2 | c.39T= (p.Ser13=) | |
17 | g.70175079T>A | CA400859723 | KCNJ2 | c.40T>A (p.Ser14Thr) | |
17 | g.70175079T>C | CA400859725 | KCNJ2 | c.40T>C (p.Ser14Pro) | |
17 | g.70175079T>G | CA400859724 | KCNJ2 | c.40T>G (p.Ser14Ala) | |
17 | g.70175080C>A | CA400859726 | KCNJ2 | c.41C>A (p.Ser14Ter) | |
17 | g.70175080C>G | CA400859727 | KCNJ2 | c.41C>G (p.Ser14Ter) | |
17 | g.70175080C>T | CA400859728 | KCNJ2 | c.41C>T (p.Ser14Leu) | gnomAD v4 COSMIC |
17 | g.70175081A>C | CA501700124 | KCNJ2 | c.42A>C (p.Ser14=) | |
17 | g.70175081A>G | CA501700125 | KCNJ2 | c.42A>G (p.Ser14=) | ClinVar dbSNP gnomAD v4 |
17 | g.70175081A>T | CA501700126 | KCNJ2 | c.42A>T (p.Ser14=) | |
17 | g.70175087_70175089del | CA2576374381 | KCNJ2 | c.48_50del (p.Glu16del) | |
17 | g.70175082G>A | CA400859729 | KCNJ2 | c.43G>A (p.Glu15Lys) | |
17 | g.70175082G>C | CA400859730 | KCNJ2 | c.43G>C (p.Glu15Gln) | |
17 | g.70175082G>T | CA400859731 | KCNJ2 | c.43G>T (p.Glu15Ter) | COSMIC |
17 | g.70175083A>C | CA400859732 | KCNJ2 | c.44A>C (p.Glu15Ala) | |
17 | g.70175083A>G | CA400859733 | KCNJ2 | c.44A>G (p.Glu15Gly) | |
17 | g.70175083A>T | CA400859734 | KCNJ2 | c.44A>T (p.Glu15Val) | |
17 | g.70175084A= | CA2272996420 | KCNJ2 | c.45A= (p.Glu15=) | |
17 | g.70175084A>C | CA400859735 | KCNJ2 | c.45A>C (p.Glu15Asp) | |
17 | g.70175084A>G | CA501700130 | KCNJ2 | c.45A>G (p.Glu15=) | dbSNP |
17 | g.70175084A>T | CA400859736 | KCNJ2 | c.45A>T (p.Glu15Asp) | COSMIC |
17 | g.70175085G>A | CA400859739 | KCNJ2 | c.46G>A (p.Glu16Lys) | COSMIC |
17 | g.70175085G>C | CA400859737 | KCNJ2 | c.46G>C (p.Glu16Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175085G= | CA2272996421 | KCNJ2 | c.46G= (p.Glu16=) | |
17 | g.70175085G>T | CA400859738 | KCNJ2 | c.46G>T (p.Glu16Ter) | |
17 | g.70175086A= | CA2272996422 | KCNJ2 | c.47A= (p.Glu16=) | |
17 | g.70175086A>C | CA400859740 | KCNJ2 | c.47A>C (p.Glu16Ala) | |
17 | g.70175086A>G | CA8738683 | KCNJ2 | c.47A>G (p.Glu16Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175086A>T | CA400859741 | KCNJ2 | c.47A>T (p.Glu16Val) | |
17 | g.70175087A= | CA2272996423 | KCNJ2 | c.48A= (p.Glu16=) | |
17 | g.70175087A>C | CA400859742 | KCNJ2 | c.48A>C (p.Glu16Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175087A>G | CA501700134 | KCNJ2 | c.48A>G (p.Glu16=) | ClinVar dbSNP gnomAD v4 |
17 | g.70175087A>T | CA400859743 | KCNJ2 | c.48A>T (p.Glu16Asp) | |
17 | g.70175088G>A | CA400859744 | KCNJ2 | c.49G>A (p.Asp17Asn) | ClinVar dbSNP |
17 | g.70175088G>C | CA400859745 | KCNJ2 | c.49G>C (p.Asp17His) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175088G= | CA2272996424 | KCNJ2 | c.49G= (p.Asp17=) | |
17 | g.70175088G>T | CA400859746 | KCNJ2 | c.49G>T (p.Asp17Tyr) | |
17 | g.70175089A= | CA2272996425 | KCNJ2 | c.50A= (p.Asp17=) | |
17 | g.70175089A>C | CA400859747 | KCNJ2 | c.50A>C (p.Asp17Ala) | |
17 | g.70175089A>G | CA8738684 | KCNJ2 | c.50A>G (p.Asp17Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175089A>T | CA400859748 | KCNJ2 | c.50A>T (p.Asp17Val) | |
17 | g.70175090C>A | CA400859749 | KCNJ2 | c.51C>A (p.Asp17Glu) | |
17 | g.70175090C= | CA2272996426 | KCNJ2 | c.51C= (p.Asp17=) | |
17 | g.70175090C>G | CA400859750 | KCNJ2 | c.51C>G (p.Asp17Glu) | |
17 | g.70175090C>T | CA8738685 | KCNJ2 | c.51C>T (p.Asp17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175091G>A | CA293702897 | KCNJ2 | c.52G>A (p.Gly18Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175091G>C | CA400859751 | KCNJ2 | c.52G>C (p.Gly18Arg) | ClinVar |
17 | g.70175091G= | CA2272996427 | KCNJ2 | c.52G= (p.Gly18=) | |
17 | g.70175091G>T | CA400859752 | KCNJ2 | c.52G>T (p.Gly18Cys) | gnomAD v4 COSMIC |
17 | g.70175092G>A | CA400859753 | KCNJ2 | c.53G>A (p.Gly18Asp) | |
17 | g.70175092G>C | CA400859754 | KCNJ2 | c.53G>C (p.Gly18Ala) | |
17 | g.70175092G>T | CA400859755 | KCNJ2 | c.53G>T (p.Gly18Val) | |
17 | g.70175093T>A | CA501700138 | KCNJ2 | c.54T>A (p.Gly18=) | |
17 | g.70175093T>C | CA501700139 | KCNJ2 | c.54T>C (p.Gly18=) | gnomAD v4 |
17 | g.70175093T>G | CA501700140 | KCNJ2 | c.54T>G (p.Gly18=) | |
17 | g.70175094A>C | CA400859756 | KCNJ2 | c.55A>C (p.Met19Leu) | |
17 | g.70175094A>G | CA400859757 | KCNJ2 | c.55A>G (p.Met19Val) | gnomAD v4 |
17 | g.70175094A>T | CA400859758 | KCNJ2 | c.55A>T (p.Met19Leu) | |
17 | g.70175095T>A | CA400859759 | KCNJ2 | c.56T>A (p.Met19Lys) | |
17 | g.70175095T>C | CA400859760 | KCNJ2 | c.56T>C (p.Met19Thr) | |
17 | g.70175095T>G | CA400859761 | KCNJ2 | c.56T>G (p.Met19Arg) | |
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) |