| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387518G>A | CA5902280 | KCNJ11 | c.313C>T (p.Arg105Cys) c.574C>T (p.Arg192Cys) n.732C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.17387518G>C | CA379772552 | KCNJ11 | c.313C>G (p.Arg105Gly) c.574C>G (p.Arg192Gly) n.732C>G | |
| 11 | g.17387518G= | CA1955119293 | KCNJ11 | c.313C= (p.Arg105=) c.574C= (p.Arg192=) n.732C= | |
| 11 | g.17387518G>T | CA379772555 | KCNJ11 | c.313C>A (p.Arg105Ser) c.574C>A (p.Arg192Ser) n.732C>A | gnomAD v4 |
| 11 | g.17387519C>A | CA473515450 | KCNJ11 | c.312G>T (p.Leu104=) c.573G>T (p.Leu191=) n.731G>T | |
| 11 | g.17387519C>G | CA473515451 | KCNJ11 | c.312G>C (p.Leu104=) c.573G>C (p.Leu191=) n.731G>C | |
| 11 | g.17387519C>T | CA473515452 | KCNJ11 | c.312G>A (p.Leu104=) c.573G>A (p.Leu191=) n.731G>A | gnomAD v4 |
| 11 | g.17387520A= | CA1955119294 | KCNJ11 | c.311T= (p.Leu104=) c.572T= (p.Leu191=) n.730T= | |
| 11 | g.17387520A>C | CA379772567 | KCNJ11 | c.311T>G (p.Leu104Arg) c.572T>G (p.Leu191Arg) n.730T>G | dbSNP |
| 11 | g.17387520A>G | CA379772566 | KCNJ11 | c.311T>C (p.Leu104Pro) c.572T>C (p.Leu191Pro) n.730T>C | |
| 11 | g.17387520A>T | CA379772562 | KCNJ11 | c.311T>A (p.Leu104Gln) c.572T>A (p.Leu191Gln) n.730T>A | |
| 11 | g.17387521G>A | CA473515453 | KCNJ11 | c.310C>T (p.Leu104=) c.571C>T (p.Leu191=) n.729C>T | |
| 11 | g.17387521G>C | CA379772568 | KCNJ11 | c.310C>G (p.Leu104Val) c.571C>G (p.Leu191Val) n.729C>G | gnomAD v4 |
| 11 | g.17387521G>T | CA379772569 | KCNJ11 | c.310C>A (p.Leu104Met) c.571C>A (p.Leu191Met) n.729C>A | |
| 11 | g.17387522G>A | CA172336 | KCNJ11 | c.309C>T (p.Ala103=) c.570C>T (p.Ala190=) n.728C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387522G>C | CA473515457 | KCNJ11 | c.309C>G (p.Ala103=) c.570C>G (p.Ala190=) n.728C>G | |
| 11 | g.17387522G= | CA1955119295 | KCNJ11 | c.309C= (p.Ala103=) c.570C= (p.Ala190=) n.728C= | |
| 11 | g.17387522G>T | CA5902281 | KCNJ11 | c.309C>A (p.Ala103=) c.570C>A (p.Ala190=) n.728C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387523G>A | CA379772578 | KCNJ11 | c.308C>T (p.Ala103Val) c.569C>T (p.Ala190Val) n.727C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387523G>C | CA379772582 | KCNJ11 | c.308C>G (p.Ala103Gly) c.569C>G (p.Ala190Gly) n.727C>G | |
| 11 | g.17387523G= | CA1955119296 | KCNJ11 | c.308C= (p.Ala103=) c.569C= (p.Ala190=) n.727C= | |
| 11 | g.17387523G>T | CA379772586 | KCNJ11 | c.308C>A (p.Ala103Asp) c.569C>A (p.Ala190Asp) n.727C>A | dbSNP gnomAD v4 |
| 11 | g.17387524C>A | CA379772592 | KCNJ11 | c.307G>T (p.Ala103Ser) c.568G>T (p.Ala190Ser) n.726G>T | gnomAD v4 |
| 11 | g.17387524C= | CA1955119297 | KCNJ11 | c.307G= (p.Ala103=) c.568G= (p.Ala190=) n.726G= | |
| 11 | g.17387524C>G | CA218399831 | KCNJ11 | c.307G>C (p.Ala103Pro) c.568G>C (p.Ala190Pro) n.726G>C | dbSNP |
| 11 | g.17387524C>T | CA5902282 | KCNJ11 | c.307G>A (p.Ala103Thr) c.568G>A (p.Ala190Thr) n.726G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387525G>A | CA207806 | KCNJ11 | c.306C>T (p.Ile102=) c.567C>T (p.Ile189=) n.725C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387525G>C | CA379772599 | KCNJ11 | c.306C>G (p.Ile102Met) c.567C>G (p.Ile189Met) n.725C>G | dbSNP |
| 11 | g.17387525G= | CA1955119298 | KCNJ11 | c.306C= (p.Ile102=) c.567C= (p.Ile189=) n.725C= | |
| 11 | g.17387525G>T | CA5902283 | KCNJ11 | c.306C>A (p.Ile102=) c.567C>A (p.Ile189=) n.725C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387526A>C | CA379772618 | KCNJ11 | c.305T>G (p.Ile102Ser) c.566T>G (p.Ile189Ser) n.724T>G | |
| 11 | g.17387526A>G | CA379772612 | KCNJ11 | c.305T>C (p.Ile102Thr) c.566T>C (p.Ile189Thr) n.724T>C | |
| 11 | g.17387526A>T | CA379772608 | KCNJ11 | c.305T>A (p.Ile102Asn) c.566T>A (p.Ile189Asn) n.724T>A | |
| 11 | g.17387527T>A | CA379772621 | KCNJ11 | c.304A>T (p.Ile102Phe) c.565A>T (p.Ile189Phe) n.723A>T | |
| 11 | g.17387527T>C | CA379772626 | KCNJ11 | c.304A>G (p.Ile102Val) c.565A>G (p.Ile189Val) n.723A>G | |
| 11 | g.17387527T>G | CA379772631 | KCNJ11 | c.304A>C (p.Ile102Leu) c.565A>C (p.Ile189Leu) n.723A>C | |
| 11 | g.17387528C>A | CA473515462 | KCNJ11 | c.303G>T (p.Val101=) c.564G>T (p.Val188=) n.722G>T | |
| 11 | g.17387528C= | CA1955119299 | KCNJ11 | c.303G= (p.Val101=) c.564G= (p.Val188=) n.722G= | |
| 11 | g.17387528C>G | CA473515463 | KCNJ11 | c.303G>C (p.Val101=) c.564G>C (p.Val188=) n.722G>C | |
| 11 | g.17387528C>T | CA473515464 | KCNJ11 | c.303G>A (p.Val101=) c.564G>A (p.Val188=) n.722G>A | dbSNP gnomAD v2 |
| 11 | g.17387529A>C | CA379772636 | KCNJ11 | c.302T>G (p.Val101Gly) c.563T>G (p.Val188Gly) n.721T>G | |
| 11 | g.17387529A>G | CA379772639 | KCNJ11 | c.302T>C (p.Val101Ala) c.563T>C (p.Val188Ala) n.721T>C | |
| 11 | g.17387529A>T | CA379772646 | KCNJ11 | c.302T>A (p.Val101Glu) c.563T>A (p.Val188Glu) n.721T>A | |
| 11 | g.17387530C>A | CA379772649 | KCNJ11 | c.301G>T (p.Val101Leu) c.562G>T (p.Val188Leu) n.720G>T | gnomAD v4 |
| 11 | g.17387530C>G | CA379772654 | KCNJ11 | c.301G>C (p.Val101Leu) c.562G>C (p.Val188Leu) n.720G>C | |
| 11 | g.17387530C>T | CA379772657 | KCNJ11 | c.301G>A (p.Val101Met) c.562G>A (p.Val188Met) n.720G>A | gnomAD v4 |
| 11 | g.17387531C>A | CA473515467 | KCNJ11 | c.300G>T (p.Ala100=) c.561G>T (p.Ala187=) n.719G>T | |
| 11 | g.17387531C= | CA1955119300 | KCNJ11 | c.300G= (p.Ala100=) c.561G= (p.Ala187=) n.719G= | |
| 11 | g.17387531C>G | CA473515469 | KCNJ11 | c.300G>C (p.Ala100=) c.561G>C (p.Ala187=) n.719G>C | |
| 11 | g.17387531C>T | CA473515468 | KCNJ11 | c.300G>A (p.Ala100=) c.561G>A (p.Ala187=) n.719G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |