Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
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 |