Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.160042457G>A | CA207249 | KCNJ10 | c.48C>T n.95-3109C>T c.76C>T (p.Arg26Ter) c.46C>T (p.Arg16Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042457G>C | CA343230527 | KCNJ10 | c.48C>G n.95-3109C>G c.76C>G (p.Arg26Gly) c.46C>G (p.Arg16Gly) | |
1 | g.160042457G= | CA1141649862 | KCNJ10 | c.48C= n.95-3109C= c.76C= (p.Arg26=) c.46C= (p.Arg16=) | |
1 | g.160042457G>T | CA421597882 | KCNJ10 | c.48C>A n.95-3109C>A c.76C>A (p.Arg26=) c.46C>A (p.Arg16=) | |
1 | g.160042458T>A | CA421597883 | KCNJ10 | c.47A>T n.95-3110A>T c.75A>T (p.Ile25=) c.45A>T (p.Ile15=) | |
1 | g.160042458T>C | CA343230531 | KCNJ10 | c.47A>G n.95-3110A>G c.75A>G (p.Ile25Met) c.45A>G (p.Ile15Met) | |
1 | g.160042458T>G | CA421597884 | KCNJ10 | c.47A>C n.95-3110A>C c.75A>C (p.Ile25=) c.45A>C (p.Ile15=) | |
1 | g.160042459A>C | CA343230551 | KCNJ10 | c.46T>G n.95-3111T>G c.74T>G (p.Ile25Arg) c.44T>G (p.Ile15Arg) | |
1 | g.160042459A>G | CA343230568 | KCNJ10 | c.46T>C n.95-3111T>C c.74T>C (p.Ile25Thr) c.44T>C (p.Ile15Thr) | gnomAD v4 |
1 | g.160042459A>T | CA343230556 | KCNJ10 | c.46T>A n.95-3111T>A c.74T>A (p.Ile25Lys) c.44T>A (p.Ile15Lys) | |
1 | g.160042460T>A | CA343230574 | KCNJ10 | c.45A>T n.95-3112A>T c.73A>T (p.Ile25Leu) c.43A>T (p.Ile15Leu) | |
1 | g.160042460T>C | CA343230576 | KCNJ10 | c.45A>G n.95-3112A>G c.73A>G (p.Ile25Val) c.43A>G (p.Ile15Val) | |
1 | g.160042460T>G | CA343230578 | KCNJ10 | c.45A>C n.95-3112A>C c.73A>C (p.Ile25Leu) c.43A>C (p.Ile15Leu) | |
1 | g.160042461C>A | CA421597889 | KCNJ10 | c.44G>T n.95-3113G>T c.72G>T (p.Gly24=) c.42G>T (p.Gly14=) | |
1 | g.160042461C>G | CA421597890 | KCNJ10 | c.44G>C n.95-3113G>C c.72G>C (p.Gly24=) c.42G>C (p.Gly14=) | |
1 | g.160042461C>T | CA421597891 | KCNJ10 | c.44G>A n.95-3113G>A c.72G>A (p.Gly24=) c.42G>A (p.Gly14=) | |
1 | g.160042462C>A | CA343230582 | KCNJ10 | c.43G>T n.95-3114G>T c.71G>T (p.Gly24Val) c.41G>T (p.Gly14Val) | |
1 | g.160042462C= | CA1143536979 | KCNJ10 | c.43G= n.95-3114G= c.71G= (p.Gly24=) c.41G= (p.Gly14=) | |
1 | g.160042462C>G | CA343230586 | KCNJ10 | c.43G>C n.95-3114G>C c.71G>C (p.Gly24Ala) c.41G>C (p.Gly14Ala) | |
1 | g.160042462C>T | CA31471520 | KCNJ10 | c.43G>A n.95-3114G>A c.71G>A (p.Gly24Glu) c.41G>A (p.Gly14Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.160042463C>A | CA343230592 | KCNJ10 | c.42G>T n.95-3115G>T c.70G>T (p.Gly24Trp) c.40G>T (p.Gly14Trp) | |
1 | g.160042463C>G | CA343230598 | KCNJ10 | c.42G>C n.95-3115G>C c.70G>C (p.Gly24Arg) c.40G>C (p.Gly14Arg) | gnomAD v4 |
1 | g.160042463C>T | CA343230601 | KCNJ10 | c.42G>A n.95-3115G>A c.70G>A (p.Gly24Arg) c.40G>A (p.Gly14Arg) | gnomAD v4 |
1 | g.160042464T>A | CA421597895 | KCNJ10 | c.41A>T n.95-3116A>T c.69A>T (p.Pro23=) c.39A>T (p.Pro13=) | COSMIC COSMIC |
1 | g.160042464T>C | CA421597893 | KCNJ10 | c.41A>G n.95-3116A>G c.69A>G (p.Pro23=) c.39A>G (p.Pro13=) | |
1 | g.160042464T>G | CA421597896 | KCNJ10 | c.41A>C n.95-3116A>C c.69A>C (p.Pro23=) c.39A>C (p.Pro13=) | |
1 | g.160042465G>A | CA343230605 | KCNJ10 | c.40C>T n.95-3117C>T c.68C>T (p.Pro23Leu) c.38C>T (p.Pro13Leu) | |
1 | g.160042465G>C | CA343230606 | KCNJ10 | c.40C>G n.95-3117C>G c.68C>G (p.Pro23Arg) c.38C>G (p.Pro13Arg) | |
1 | g.160042465G>T | CA343230608 | KCNJ10 | c.40C>A n.95-3117C>A c.68C>A (p.Pro23Gln) c.38C>A (p.Pro13Gln) | |
1 | g.160042467del | CA2573332605 | KCNJ10 | c.40del n.95-3117del c.68del (p.Pro23GlnfsTer9) c.38del (p.Pro13GlnfsTer9) | gnomAD v4 |
1 | g.160042466G>A | CA343230611 | KCNJ10 | c.39C>T n.95-3118C>T c.67C>T (p.Pro23Ser) c.37C>T (p.Pro13Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.160042466G>C | CA343230616 | KCNJ10 | c.39C>G n.95-3118C>G c.67C>G (p.Pro23Ala) c.37C>G (p.Pro13Ala) | |
1 | g.160042466G= | CA1202156958 | KCNJ10 | c.39C= n.95-3118C= c.67C= (p.Pro23=) c.37C= (p.Pro13=) | |
1 | g.160042466G>T | CA343230615 | KCNJ10 | c.39C>A n.95-3118C>A c.67C>A (p.Pro23Thr) c.37C>A (p.Pro13Thr) | ClinVar |
1 | g.160042467G>A | CA421597901 | KCNJ10 | c.38C>T n.95-3119C>T c.66C>T (p.Gly22=) c.36C>T (p.Gly12=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042467G>C | CA421597902 | KCNJ10 | c.38C>G n.95-3119C>G c.66C>G (p.Gly22=) c.36C>G (p.Gly12=) | |
1 | g.160042467G= | CA1202156959 | KCNJ10 | c.38C= n.95-3119C= c.66C= (p.Gly22=) c.36C= (p.Gly12=) | |
1 | g.160042467G>T | CA421597903 | KCNJ10 | c.38C>A n.95-3119C>A c.66C>A (p.Gly22=) c.36C>A (p.Gly12=) | |
1 | g.160042468C>A | CA343230617 | KCNJ10 | c.37G>T n.95-3120G>T c.65G>T (p.Gly22Val) c.35G>T (p.Gly12Val) | |
1 | g.160042468C= | CA1202156960 | KCNJ10 | c.37G= n.95-3120G= c.65G= (p.Gly22=) c.35G= (p.Gly12=) | |
1 | g.160042468C>G | CA343230618 | KCNJ10 | c.37G>C n.95-3120G>C c.65G>C (p.Gly22Ala) c.35G>C (p.Gly12Ala) | COSMIC COSMIC |
1 | g.160042468C>T | CA31471542 | KCNJ10 | c.37G>A n.95-3120G>A c.65G>A (p.Gly22Asp) c.35G>A (p.Gly12Asp) | dbSNP |
1 | g.160042469C>A | CA343230625 | KCNJ10 | c.36G>T n.95-3121G>T c.64G>T (p.Gly22Cys) c.34G>T (p.Gly12Cys) | |
1 | g.160042469C= | CA1202156961 | KCNJ10 | c.36G= n.95-3121G= c.64G= (p.Gly22=) c.34G= (p.Gly12=) | |
1 | g.160042469C>G | CA343230641 | KCNJ10 | c.36G>C n.95-3121G>C c.64G>C (p.Gly22Arg) c.34G>C (p.Gly12Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160042469C>T | CA343230647 | KCNJ10 | c.36G>A n.95-3121G>A c.64G>A (p.Gly22Ser) c.34G>A (p.Gly12Ser) | COSMIC COSMIC |
1 | g.160042470C>A | CA1193302 | KCNJ10 | c.35G>T n.95-3122G>T c.63G>T (p.Met21Ile) c.33G>T (p.Met11Ile) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.160042470C= | CA1148300378 | KCNJ10 | c.35G= n.95-3122G= c.63G= (p.Met21=) c.33G= (p.Met11=) | |
1 | g.160042470C>G | CA343230661 | KCNJ10 | c.35G>C n.95-3122G>C c.63G>C (p.Met21Ile) c.33G>C (p.Met11Ile) | gnomAD v4 |
1 | g.160042470C>T | CA1193301 | KCNJ10 | c.35G>A n.95-3122G>A c.63G>A (p.Met21Ile) c.33G>A (p.Met11Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |