Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.155294677G>A | CA1144216 | PKLR | c.770C>T (p.Ala257Val) c.677C>T (p.Ala226Val) c.929C>T (p.Ala310Val) c.578C>T (p.Ala193Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294677G>C | CA342754507 | PKLR | c.770C>G (p.Ala257Gly) c.677C>G (p.Ala226Gly) c.929C>G (p.Ala310Gly) c.578C>G (p.Ala193Gly) | |
1 | g.155294677G= | CA1200112256 | PKLR | c.770C= (p.Ala257=) c.677C= (p.Ala226=) c.929C= (p.Ala310=) c.578C= (p.Ala193=) | |
1 | g.155294677G>T | CA342754509 | PKLR | c.770C>A (p.Ala257Asp) c.677C>A (p.Ala226Asp) c.929C>A (p.Ala310Asp) c.578C>A (p.Ala193Asp) | |
1 | g.155294678C>A | CA342754515 | PKLR | c.769G>T (p.Ala257Ser) c.676G>T (p.Ala226Ser) c.928G>T (p.Ala310Ser) c.577G>T (p.Ala193Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294678C= | CA1200112257 | PKLR | c.769G= (p.Ala257=) c.676G= (p.Ala226=) c.928G= (p.Ala310=) c.577G= (p.Ala193=) | |
1 | g.155294678C>G | CA342754513 | PKLR | c.769G>C (p.Ala257Pro) c.676G>C (p.Ala226Pro) c.928G>C (p.Ala310Pro) c.577G>C (p.Ala193Pro) | |
1 | g.155294678C>T | CA1144217 | PKLR | c.769G>A (p.Ala257Thr) c.676G>A (p.Ala226Thr) c.928G>A (p.Ala310Thr) c.577G>A (p.Ala193Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294679C>A | CA421245745 | PKLR | c.768G>T (p.Gly256=) c.675G>T (p.Gly225=) c.927G>T (p.Gly309=) c.576G>T (p.Gly192=) | |
1 | g.155294679C>G | CA421245743 | PKLR | c.768G>C (p.Gly256=) c.675G>C (p.Gly225=) c.927G>C (p.Gly309=) c.576G>C (p.Gly192=) | |
1 | g.155294679C>T | CA421245744 | PKLR | c.768G>A (p.Gly256=) c.675G>A (p.Gly225=) c.927G>A (p.Gly309=) c.576G>A (p.Gly192=) | |
1 | g.155294680C>A | CA342754520 | PKLR | c.767G>T (p.Gly256Val) c.674G>T (p.Gly225Val) c.926G>T (p.Gly309Val) c.575G>T (p.Gly192Val) | |
1 | g.155294680C= | CA1200112258 | PKLR | c.767G= (p.Gly256=) c.674G= (p.Gly225=) c.926G= (p.Gly309=) c.575G= (p.Gly192=) | |
1 | g.155294680C>G | CA342754517 | PKLR | c.767G>C (p.Gly256Ala) c.674G>C (p.Gly225Ala) c.926G>C (p.Gly309Ala) c.575G>C (p.Gly192Ala) | |
1 | g.155294680C>T | CA342754519 | PKLR | c.767G>A (p.Gly256Glu) c.674G>A (p.Gly225Glu) c.926G>A (p.Gly309Glu) c.575G>A (p.Gly192Glu) | ClinVar dbSNP gnomAD v4 |
1 | g.155294681C>A | CA342754523 | PKLR | c.766G>T (p.Gly256Trp) c.673G>T (p.Gly225Trp) c.925G>T (p.Gly309Trp) c.574G>T (p.Gly192Trp) | |
1 | g.155294681C>G | CA342754524 | PKLR | c.766G>C (p.Gly256Arg) c.673G>C (p.Gly225Arg) c.925G>C (p.Gly309Arg) c.574G>C (p.Gly192Arg) | |
1 | g.155294681C>T | CA342754526 | PKLR | c.766G>A (p.Gly256Arg) c.673G>A (p.Gly225Arg) c.925G>A (p.Gly309Arg) c.574G>A (p.Gly192Arg) | |
1 | g.155294682T>A | CA421245748 | PKLR | c.765A>T (p.Pro255=) c.672A>T (p.Pro224=) c.924A>T (p.Pro308=) c.573A>T (p.Pro191=) | |
1 | g.155294682T>C | CA1144218 | PKLR | c.765A>G (p.Pro255=) c.672A>G (p.Pro224=) c.924A>G (p.Pro308=) c.573A>G (p.Pro191=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294682T>G | CA421245750 | PKLR | c.765A>C (p.Pro255=) c.672A>C (p.Pro224=) c.924A>C (p.Pro308=) c.573A>C (p.Pro191=) | |
1 | g.155294682T= | CA1200112259 | PKLR | c.765A= (p.Pro255=) c.672A= (p.Pro224=) c.924A= (p.Pro308=) c.573A= (p.Pro191=) | |
1 | g.155294683G>A | CA342754536 | PKLR | c.764C>T (p.Pro255Leu) c.671C>T (p.Pro224Leu) c.923C>T (p.Pro308Leu) c.572C>T (p.Pro191Leu) | |
1 | g.155294683G>C | CA342754531 | PKLR | c.764C>G (p.Pro255Arg) c.671C>G (p.Pro224Arg) c.923C>G (p.Pro308Arg) c.572C>G (p.Pro191Arg) | |
1 | g.155294683G= | CA1200112260 | PKLR | c.764C= (p.Pro255=) c.671C= (p.Pro224=) c.923C= (p.Pro308=) c.572C= (p.Pro191=) | |
1 | g.155294683G>T | CA342754534 | PKLR | c.764C>A (p.Pro255Gln) c.671C>A (p.Pro224Gln) c.923C>A (p.Pro308Gln) c.572C>A (p.Pro191Gln) | dbSNP |
1 | g.155294684G>A | CA342754538 | PKLR | c.763C>T (p.Pro255Ser) c.670C>T (p.Pro224Ser) c.922C>T (p.Pro308Ser) c.571C>T (p.Pro191Ser) | |
1 | g.155294684G>C | CA342754540 | PKLR | c.763C>G (p.Pro255Ala) c.670C>G (p.Pro224Ala) c.922C>G (p.Pro308Ala) c.571C>G (p.Pro191Ala) | |
1 | g.155294684G>T | CA342754541 | PKLR | c.763C>A (p.Pro255Thr) c.670C>A (p.Pro224Thr) c.922C>A (p.Pro308Thr) c.571C>A (p.Pro191Thr) | |
1 | g.155294685C>A | CA342754543 | PKLR | c.762G>T (p.Leu254Phe) c.669G>T (p.Leu223Phe) c.921G>T (p.Leu307Phe) c.570G>T (p.Leu190Phe) | |
1 | g.155294685C= | CA1200112261 | PKLR | c.762G= (p.Leu254=) c.669G= (p.Leu223=) c.921G= (p.Leu307=) c.570G= (p.Leu190=) | |
1 | g.155294685C>G | CA342754544 | PKLR | c.762G>C (p.Leu254Phe) c.669G>C (p.Leu223Phe) c.921G>C (p.Leu307Phe) c.570G>C (p.Leu190Phe) | ClinVar dbSNP |
1 | g.155294685C>T | CA30903412 | PKLR | c.762G>A (p.Leu254=) c.669G>A (p.Leu223=) c.921G>A (p.Leu307=) c.570G>A (p.Leu190=) | dbSNP |
1 | g.155294686A>C | CA342754546 | PKLR | c.761T>G (p.Leu254Trp) c.668T>G (p.Leu223Trp) c.920T>G (p.Leu307Trp) c.569T>G (p.Leu190Trp) | |
1 | g.155294686A>G | CA342754549 | PKLR | c.761T>C (p.Leu254Ser) c.668T>C (p.Leu223Ser) c.920T>C (p.Leu307Ser) c.569T>C (p.Leu190Ser) | |
1 | g.155294686A>T | CA342754548 | PKLR | c.761T>A (p.Leu254Ter) c.668T>A (p.Leu223Ter) c.920T>A (p.Leu307Ter) c.569T>A (p.Leu190Ter) | |
1 | g.155294687A>C | CA342754552 | PKLR | c.760T>G (p.Leu254Val) c.667T>G (p.Leu223Val) c.919T>G (p.Leu307Val) c.568T>G (p.Leu190Val) | |
1 | g.155294687A>G | CA421245757 | PKLR | c.760T>C (p.Leu254=) c.667T>C (p.Leu223=) c.919T>C (p.Leu307=) c.568T>C (p.Leu190=) | |
1 | g.155294687A>T | CA342754554 | PKLR | c.760T>A (p.Leu254Met) c.667T>A (p.Leu223Met) c.919T>A (p.Leu307Met) c.568T>A (p.Leu190Met) | |
1 | g.155294688G>A | CA1144219 | PKLR | c.759C>T (p.Asn253=) c.666C>T (p.Asn222=) c.918C>T (p.Asn306=) c.567C>T (p.Asn189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294688G>C | CA342754557 | PKLR | c.759C>G (p.Asn253Lys) c.666C>G (p.Asn222Lys) c.918C>G (p.Asn306Lys) c.567C>G (p.Asn189Lys) | |
1 | g.155294688G= | CA1200112262 | PKLR | c.759C= (p.Asn253=) c.666C= (p.Asn222=) c.918C= (p.Asn306=) c.567C= (p.Asn189=) | |
1 | g.155294688G>T | CA342754559 | PKLR | c.759C>A (p.Asn253Lys) c.666C>A (p.Asn222Lys) c.918C>A (p.Asn306Lys) c.567C>A (p.Asn189Lys) | gnomAD v4 |
1 | g.155294689T>A | CA342754561 | PKLR | c.758A>T (p.Asn253Ile) c.665A>T (p.Asn222Ile) c.917A>T (p.Asn306Ile) c.566A>T (p.Asn189Ile) | |
1 | g.155294689T>C | CA342754563 | PKLR | c.758A>G (p.Asn253Ser) c.665A>G (p.Asn222Ser) c.917A>G (p.Asn306Ser) c.566A>G (p.Asn189Ser) | |
1 | g.155294689T>G | CA342754564 | PKLR | c.758A>C (p.Asn253Thr) c.665A>C (p.Asn222Thr) c.917A>C (p.Asn306Thr) c.566A>C (p.Asn189Thr) | |
1 | g.155294689_155294690del | CA2648269434 | PKLR | c.757_758del (p.Asn253LeufsTer?) c.664_665del (p.Asn222LeufsTer?) c.916_917del (p.Asn306LeufsTer?) c.565_566del (p.Asn189LeufsTer?) | gnomAD v4 |
1 | g.155294690T>A | CA342754567 | PKLR | c.757A>T (p.Asn253Tyr) c.664A>T (p.Asn222Tyr) c.916A>T (p.Asn306Tyr) c.565A>T (p.Asn189Tyr) | dbSNP |
1 | g.155294690T>C | CA342754569 | PKLR | c.757A>G (p.Asn253Asp) c.664A>G (p.Asn222Asp) c.916A>G (p.Asn306Asp) c.565A>G (p.Asn189Asp) | |
1 | g.155294690T>G | CA342754570 | PKLR | c.757A>C (p.Asn253His) c.664A>C (p.Asn222His) c.916A>C (p.Asn306His) c.565A>C (p.Asn189His) | |
1 | g.155294690T= | CA1200112263 | PKLR | c.757A= (p.Asn253=) c.664A= (p.Asn222=) c.916A= (p.Asn306=) c.565A= (p.Asn189=) | |
1 | g.155294691C>A | CA421245761 | PKLR | c.756G>T (p.Val252=) c.663G>T (p.Val221=) c.915G>T (p.Val305=) c.564G>T (p.Val188=) | |
1 | g.155294691C= | CA1148559084 | PKLR | c.756G= (p.Val252=) c.663G= (p.Val221=) c.915G= (p.Val305=) c.564G= (p.Val188=) | |
1 | g.155294691C>G | CA1144220 | PKLR | c.756G>C (p.Val252=) c.663G>C (p.Val221=) c.915G>C (p.Val305=) c.564G>C (p.Val188=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294691C>T | CA421245762 | PKLR | c.756G>A (p.Val252=) c.663G>A (p.Val221=) c.915G>A (p.Val305=) c.564G>A (p.Val188=) | |
1 | g.155294692A>C | CA342754575 | PKLR | c.755T>G (p.Val252Gly) c.662T>G (p.Val221Gly) c.914T>G (p.Val305Gly) c.563T>G (p.Val188Gly) | |
1 | g.155294692A>G | CA342754578 | PKLR | c.755T>C (p.Val252Ala) c.662T>C (p.Val221Ala) c.914T>C (p.Val305Ala) c.563T>C (p.Val188Ala) | |
1 | g.155294692A>T | CA342754574 | PKLR | c.755T>A (p.Val252Glu) c.662T>A (p.Val221Glu) c.914T>A (p.Val305Glu) c.563T>A (p.Val188Glu) | |
1 | g.155294693C>A | CA342754581 | PKLR | c.754G>T (p.Val252Leu) c.661G>T (p.Val221Leu) c.913G>T (p.Val305Leu) c.562G>T (p.Val188Leu) | |
1 | g.155294693C= | CA1200112264 | PKLR | c.754G= (p.Val252=) c.661G= (p.Val221=) c.913G= (p.Val305=) c.562G= (p.Val188=) | |
1 | g.155294693C>G | CA342754584 | PKLR | c.754G>C (p.Val252Leu) c.661G>C (p.Val221Leu) c.913G>C (p.Val305Leu) c.562G>C (p.Val188Leu) | |
1 | g.155294693C>T | CA342754583 | PKLR | c.754G>A (p.Val252Met) c.661G>A (p.Val221Met) c.913G>A (p.Val305Met) c.562G>A (p.Val188Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294694G>A | CA421245769 | PKLR | c.753C>T (p.Gly251=) c.660C>T (p.Gly220=) c.912C>T (p.Gly304=) c.561C>T (p.Gly187=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155294694G>C | CA421245770 | PKLR | c.753C>G (p.Gly251=) c.660C>G (p.Gly220=) c.912C>G (p.Gly304=) c.561C>G (p.Gly187=) | |
1 | g.155294694G= | CA1200112265 | PKLR | c.753C= (p.Gly251=) c.660C= (p.Gly220=) c.912C= (p.Gly304=) c.561C= (p.Gly187=) | |
1 | g.155294694G>T | CA421245771 | PKLR | c.753C>A (p.Gly251=) c.660C>A (p.Gly220=) c.912C>A (p.Gly304=) c.561C>A (p.Gly187=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294695C>A | CA342754588 | PKLR | c.752G>T (p.Gly251Val) c.659G>T (p.Gly220Val) c.911G>T (p.Gly304Val) c.560G>T (p.Gly187Val) | |
1 | g.155294695C>G | CA342754589 | PKLR | c.752G>C (p.Gly251Ala) c.659G>C (p.Gly220Ala) c.911G>C (p.Gly304Ala) c.560G>C (p.Gly187Ala) | |
1 | g.155294695C>T | CA342754590 | PKLR | c.752G>A (p.Gly251Asp) c.659G>A (p.Gly220Asp) c.911G>A (p.Gly304Asp) c.560G>A (p.Gly187Asp) | |
1 | g.155294697dup | CA2838437881 | PKLR | c.752dup (p.Val252ArgfsTer?) c.659dup (p.Val221ArgfsTer?) c.911dup (p.Val305ArgfsTer?) c.560dup (p.Val188ArgfsTer?) | |
1 | g.155294696C>A | CA30903450 | PKLR | c.751G>T (p.Gly251Cys) c.658G>T (p.Gly220Cys) c.910G>T (p.Gly304Cys) c.559G>T (p.Gly187Cys) | dbSNP gnomAD v2 |
1 | g.155294696C= | CA1143536925 | PKLR | c.751G= (p.Gly251=) c.658G= (p.Gly220=) c.910G= (p.Gly304=) c.559G= (p.Gly187=) | |
1 | g.155294696C>G | CA342754593 | PKLR | c.751G>C (p.Gly251Arg) c.658G>C (p.Gly220Arg) c.910G>C (p.Gly304Arg) c.559G>C (p.Gly187Arg) | |
1 | g.155294696C>T | CA30903451 | PKLR | c.751G>A (p.Gly251Ser) c.658G>A (p.Gly220Ser) c.910G>A (p.Gly304Ser) c.559G>A (p.Gly187Ser) | dbSNP COSMIC |
1 | g.155294697C>A | CA342754596 | PKLR | c.750G>T (p.Lys250Asn) c.657G>T (p.Lys219Asn) c.909G>T (p.Lys303Asn) c.558G>T (p.Lys186Asn) | |
1 | g.155294697C>G | CA342754598 | PKLR | c.750G>C (p.Lys250Asn) c.657G>C (p.Lys219Asn) c.909G>C (p.Lys303Asn) c.558G>C (p.Lys186Asn) | |
1 | g.155294697C>T | CA421245777 | PKLR | c.750G>A (p.Lys250=) c.657G>A (p.Lys219=) c.909G>A (p.Lys303=) c.558G>A (p.Lys186=) | dbSNP |
1 | g.155294698T>A | CA342754600 | PKLR | c.749A>T (p.Lys250Met) c.656A>T (p.Lys219Met) c.908A>T (p.Lys303Met) c.557A>T (p.Lys186Met) | |
1 | g.155294698T>C | CA342754602 | PKLR | c.749A>G (p.Lys250Arg) c.656A>G (p.Lys219Arg) c.908A>G (p.Lys303Arg) c.557A>G (p.Lys186Arg) | |
1 | g.155294698T>G | CA342754603 | PKLR | c.749A>C (p.Lys250Thr) c.656A>C (p.Lys219Thr) c.908A>C (p.Lys303Thr) c.557A>C (p.Lys186Thr) | |
1 | g.155294699T>A | CA342754609 | PKLR | c.748A>T (p.Lys250Ter) c.655A>T (p.Lys219Ter) c.907A>T (p.Lys303Ter) c.556A>T (p.Lys186Ter) | |
1 | g.155294699T>C | CA342754606 | PKLR | c.748A>G (p.Lys250Glu) c.655A>G (p.Lys219Glu) c.907A>G (p.Lys303Glu) c.556A>G (p.Lys186Glu) | gnomAD v4 |
1 | g.155294699T>G | CA342754607 | PKLR | c.748A>C (p.Lys250Gln) c.655A>C (p.Lys219Gln) c.907A>C (p.Lys303Gln) c.556A>C (p.Lys186Gln) | gnomAD v4 |
1 | g.155294700C>A | CA421245784 | PKLR | c.747G>T (p.Arg249=) c.654G>T (p.Arg218=) c.906G>T (p.Arg302=) c.555G>T (p.Arg185=) | dbSNP |
1 | g.155294700C= | CA1200112266 | PKLR | c.747G= (p.Arg249=) c.654G= (p.Arg218=) c.906G= (p.Arg302=) c.555G= (p.Arg185=) | |
1 | g.155294700C>G | CA421245779 | PKLR | c.747G>C (p.Arg249=) c.654G>C (p.Arg218=) c.906G>C (p.Arg302=) c.555G>C (p.Arg185=) | |
1 | g.155294700C>T | CA1144221 | PKLR | c.747G>A (p.Arg249=) c.654G>A (p.Arg218=) c.906G>A (p.Arg302=) c.555G>A (p.Arg185=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294701C>A | CA342754612 | PKLR | c.746G>T (p.Arg249Leu) c.653G>T (p.Arg218Leu) c.905G>T (p.Arg302Leu) c.554G>T (p.Arg185Leu) | |
1 | g.155294701C= | CA1143623448 | PKLR | c.746G= (p.Arg249=) c.653G= (p.Arg218=) c.905G= (p.Arg302=) c.554G= (p.Arg185=) | |
1 | g.155294701C>G | CA342754614 | PKLR | c.746G>C (p.Arg249Pro) c.653G>C (p.Arg218Pro) c.905G>C (p.Arg302Pro) c.554G>C (p.Arg185Pro) | |
1 | g.155294701C>T | CA1144222 | PKLR | c.746G>A (p.Arg249Gln) c.653G>A (p.Arg218Gln) c.905G>A (p.Arg302Gln) c.554G>A (p.Arg185Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294702G>A | CA1144223 | PKLR | c.745C>T (p.Arg249Trp) c.652C>T (p.Arg218Trp) c.904C>T (p.Arg302Trp) c.553C>T (p.Arg185Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294702G>C | CA342754618 | PKLR | c.745C>G (p.Arg249Gly) c.652C>G (p.Arg218Gly) c.904C>G (p.Arg302Gly) c.553C>G (p.Arg185Gly) | |
1 | g.155294702G= | CA1149054015 | PKLR | c.745C= (p.Arg249=) c.652C= (p.Arg218=) c.904C= (p.Arg302=) c.553C= (p.Arg185=) | |
1 | g.155294702G>T | CA421245788 | PKLR | c.745C>A (p.Arg249=) c.652C>A (p.Arg218=) c.904C>A (p.Arg302=) c.553C>A (p.Arg185=) | |
1 | g.155294703G>A | CA30903476 | PKLR | c.744C>T (p.Ser248=) c.651C>T (p.Ser217=) c.903C>T (p.Ser301=) c.552C>T (p.Ser184=) | dbSNP |
1 | g.155294703G>C | CA342754619 | PKLR | c.744C>G (p.Ser248Arg) c.651C>G (p.Ser217Arg) c.903C>G (p.Ser301Arg) c.552C>G (p.Ser184Arg) | gnomAD v4 |
1 | g.155294703G= | CA1200112267 | PKLR | c.744C= (p.Ser248=) c.651C= (p.Ser217=) c.903C= (p.Ser301=) c.552C= (p.Ser184=) | |
1 | g.155294703G>T | CA342754621 | PKLR | c.744C>A (p.Ser248Arg) c.651C>A (p.Ser217Arg) c.903C>A (p.Ser301Arg) c.552C>A (p.Ser184Arg) | |
1 | g.155294704C>A | CA342754623 | PKLR | c.743G>T (p.Ser248Ile) c.650G>T (p.Ser217Ile) c.902G>T (p.Ser301Ile) c.551G>T (p.Ser184Ile) | |
1 | g.155294704C>G | CA342754625 | PKLR | c.743G>C (p.Ser248Thr) c.650G>C (p.Ser217Thr) c.902G>C (p.Ser301Thr) c.551G>C (p.Ser184Thr) | |
1 | g.155294704C>T | CA342754627 | PKLR | c.743G>A (p.Ser248Asn) c.650G>A (p.Ser217Asn) c.902G>A (p.Ser301Asn) c.551G>A (p.Ser184Asn) | |
1 | g.155294705T>A | CA342754631 | PKLR | c.742A>T (p.Ser248Cys) c.649A>T (p.Ser217Cys) c.901A>T (p.Ser301Cys) c.550A>T (p.Ser184Cys) | |
1 | g.155294705T>C | CA342754633 | PKLR | c.742A>G (p.Ser248Gly) c.649A>G (p.Ser217Gly) c.901A>G (p.Ser301Gly) c.550A>G (p.Ser184Gly) | |
1 | g.155294705T>G | CA342754629 | PKLR | c.742A>C (p.Ser248Arg) c.649A>C (p.Ser217Arg) c.901A>C (p.Ser301Arg) c.550A>C (p.Ser184Arg) | |
1 | g.155294706G>A | CA421245791 | PKLR | c.741C>T (p.Gly247=) c.648C>T (p.Gly216=) c.900C>T (p.Gly300=) c.549C>T (p.Gly183=) | dbSNP gnomAD v2 |
1 | g.155294706G>C | CA421245793 | PKLR | c.741C>G (p.Gly247=) c.648C>G (p.Gly216=) c.900C>G (p.Gly300=) c.549C>G (p.Gly183=) | |
1 | g.155294706G= | CA1200112268 | PKLR | c.741C= (p.Gly247=) c.648C= (p.Gly216=) c.900C= (p.Gly300=) c.549C= (p.Gly183=) | |
1 | g.155294706G>T | CA421245796 | PKLR | c.741C>A (p.Gly247=) c.648C>A (p.Gly216=) c.900C>A (p.Gly300=) c.549C>A (p.Gly183=) | |
1 | g.155294707C>A | CA342754636 | PKLR | c.740G>T (p.Gly247Val) c.647G>T (p.Gly216Val) c.899G>T (p.Gly300Val) c.548G>T (p.Gly183Val) | |
1 | g.155294707C= | CA1200112269 | PKLR | c.740G= (p.Gly247=) c.647G= (p.Gly216=) c.899G= (p.Gly300=) c.548G= (p.Gly183=) | |
1 | g.155294707C>G | CA342754637 | PKLR | c.740G>C (p.Gly247Ala) c.647G>C (p.Gly216Ala) c.899G>C (p.Gly300Ala) c.548G>C (p.Gly183Ala) | |
1 | g.155294707C>T | CA342754639 | PKLR | c.740G>A (p.Gly247Asp) c.647G>A (p.Gly216Asp) c.899G>A (p.Gly300Asp) c.548G>A (p.Gly183Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.155294708C>A | CA342754641 | PKLR | c.739G>T (p.Gly247Cys) c.646G>T (p.Gly216Cys) c.898G>T (p.Gly300Cys) c.547G>T (p.Gly183Cys) | |
1 | g.155294708C= | CA1200112270 | PKLR | c.739G= (p.Gly247=) c.646G= (p.Gly216=) c.898G= (p.Gly300=) c.547G= (p.Gly183=) | |
1 | g.155294708C>G | CA342754643 | PKLR | c.739G>C (p.Gly247Arg) c.646G>C (p.Gly216Arg) c.898G>C (p.Gly300Arg) c.547G>C (p.Gly183Arg) | gnomAD v4 |
1 | g.155294708C>T | CA342754645 | PKLR | c.739G>A (p.Gly247Ser) c.646G>A (p.Gly216Ser) c.898G>A (p.Gly300Ser) c.547G>A (p.Gly183Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294709C>A | CA421245799 | PKLR | c.738G>T (p.Leu246=) c.645G>T (p.Leu215=) c.897G>T (p.Leu299=) c.546G>T (p.Leu182=) | |
1 | g.155294709C>G | CA421245801 | PKLR | c.738G>C (p.Leu246=) c.645G>C (p.Leu215=) c.897G>C (p.Leu299=) c.546G>C (p.Leu182=) | |
1 | g.155294709C>T | CA421245803 | PKLR | c.738G>A (p.Leu246=) c.645G>A (p.Leu215=) c.897G>A (p.Leu299=) c.546G>A (p.Leu182=) | |
1 | g.155294710A>C | CA342754651 | PKLR | c.737T>G (p.Leu246Arg) c.644T>G (p.Leu215Arg) c.896T>G (p.Leu299Arg) c.545T>G (p.Leu182Arg) | |
1 | g.155294710A>G | CA342754647 | PKLR | c.737T>C (p.Leu246Pro) c.644T>C (p.Leu215Pro) c.896T>C (p.Leu299Pro) c.545T>C (p.Leu182Pro) | |
1 | g.155294710A>T | CA342754649 | PKLR | c.737T>A (p.Leu246Gln) c.644T>A (p.Leu215Gln) c.896T>A (p.Leu299Gln) c.545T>A (p.Leu182Gln) | |
1 | g.155294711G>A | CA421245807 | PKLR | c.736C>T (p.Leu246=) c.643C>T (p.Leu215=) c.895C>T (p.Leu299=) c.544C>T (p.Leu182=) | |
1 | g.155294711G>C | CA342754652 | PKLR | c.736C>G (p.Leu246Val) c.643C>G (p.Leu215Val) c.895C>G (p.Leu299Val) c.544C>G (p.Leu182Val) | |
1 | g.155294711G>T | CA342754653 | PKLR | c.736C>A (p.Leu246Met) c.643C>A (p.Leu215Met) c.895C>A (p.Leu299Met) c.544C>A (p.Leu182Met) | |
1 | g.155294712G>A | CA421245808 | PKLR | c.735C>T (p.Val245=) c.642C>T (p.Val214=) c.894C>T (p.Val298=) c.543C>T (p.Val181=) | |
1 | g.155294712G>C | CA421245810 | PKLR | c.735C>G (p.Val245=) c.642C>G (p.Val214=) c.894C>G (p.Val298=) c.543C>G (p.Val181=) | |
1 | g.155294712G>T | CA421245813 | PKLR | c.735C>A (p.Val245=) c.642C>A (p.Val214=) c.894C>A (p.Val298=) c.543C>A (p.Val181=) | |
1 | g.155294713A>C | CA342754656 | PKLR | c.734T>G (p.Val245Gly) c.641T>G (p.Val214Gly) c.893T>G (p.Val298Gly) c.542T>G (p.Val181Gly) | |
1 | g.155294713A>G | CA342754657 | PKLR | c.734T>C (p.Val245Ala) c.641T>C (p.Val214Ala) c.893T>C (p.Val298Ala) c.542T>C (p.Val181Ala) | |
1 | g.155294713A>T | CA342754659 | PKLR | c.734T>A (p.Val245Asp) c.641T>A (p.Val214Asp) c.893T>A (p.Val298Asp) c.542T>A (p.Val181Asp) | |
1 | g.155294714C>A | CA342754661 | PKLR | c.733G>T (p.Val245Phe) c.640G>T (p.Val214Phe) c.892G>T (p.Val298Phe) c.541G>T (p.Val181Phe) | |
1 | g.155294714C= | CA1146403765 | PKLR | c.733G= (p.Val245=) c.640G= (p.Val214=) c.892G= (p.Val298=) c.541G= (p.Val181=) | |
1 | g.155294714C>G | CA342754664 | PKLR | c.733G>C (p.Val245Leu) c.640G>C (p.Val214Leu) c.892G>C (p.Val298Leu) c.541G>C (p.Val181Leu) | |
1 | g.155294714C>T | CA1144224 | PKLR | c.733G>A (p.Val245Ile) c.640G>A (p.Val214Ile) c.892G>A (p.Val298Ile) c.541G>A (p.Val181Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294715_155294724del | CA2586967540 | PKLR | c.724_733del (p.Asn242SerfsTer8) c.631_640del (p.Asn211SerfsTer8) c.883_892del (p.Asn295SerfsTer8) c.532_541del (p.Asn178SerfsTer8) | |
1 | g.155294715G>A | CA421245821 | PKLR | c.732C>T (p.Gly244=) c.639C>T (p.Gly213=) c.891C>T (p.Gly297=) c.540C>T (p.Gly180=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294715G>C | CA421245818 | PKLR | c.732C>G (p.Gly244=) c.639C>G (p.Gly213=) c.891C>G (p.Gly297=) c.540C>G (p.Gly180=) | |
1 | g.155294715G= | CA1200112271 | PKLR | c.732C= (p.Gly244=) c.639C= (p.Gly213=) c.891C= (p.Gly297=) c.540C= (p.Gly180=) | |
1 | g.155294715G>T | CA421245819 | PKLR | c.732C>A (p.Gly244=) c.639C>A (p.Gly213=) c.891C>A (p.Gly297=) c.540C>A (p.Gly180=) | gnomAD v4 |
1 | g.155294716C>A | CA342754666 | PKLR | c.731G>T (p.Gly244Val) c.638G>T (p.Gly213Val) c.890G>T (p.Gly297Val) c.539G>T (p.Gly180Val) | |
1 | g.155294716C= | CA1200112272 | PKLR | c.731G= (p.Gly244=) c.638G= (p.Gly213=) c.890G= (p.Gly297=) c.539G= (p.Gly180=) | |
1 | g.155294716C>G | CA342754668 | PKLR | c.731G>C (p.Gly244Ala) c.638G>C (p.Gly213Ala) c.890G>C (p.Gly297Ala) c.539G>C (p.Gly180Ala) | |
1 | g.155294716C>T | CA1144225 | PKLR | c.731G>A (p.Gly244Asp) c.638G>A (p.Gly213Asp) c.890G>A (p.Gly297Asp) c.539G>A (p.Gly180Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155294717C>A | CA342754671 | PKLR | c.730G>T (p.Gly244Cys) c.637G>T (p.Gly213Cys) c.889G>T (p.Gly297Cys) c.538G>T (p.Gly180Cys) | gnomAD v4 |
1 | g.155294717C= | CA1200112273 | PKLR | c.730G= (p.Gly244=) c.637G= (p.Gly213=) c.889G= (p.Gly297=) c.538G= (p.Gly180=) | |
1 | g.155294717C>G | CA342754673 | PKLR | c.730G>C (p.Gly244Arg) c.637G>C (p.Gly213Arg) c.889G>C (p.Gly297Arg) c.538G>C (p.Gly180Arg) | |
1 | g.155294717C>T | CA30903497 | PKLR | c.730G>A (p.Gly244Ser) c.637G>A (p.Gly213Ser) c.889G>A (p.Gly297Ser) c.538G>A (p.Gly180Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294718G>A | CA421245824 | PKLR | c.729C>T (p.Gly243=) c.636C>T (p.Gly212=) c.888C>T (p.Gly296=) c.537C>T (p.Gly179=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.155294718G>C | CA421245826 | PKLR | c.729C>G (p.Gly243=) c.636C>G (p.Gly212=) c.888C>G (p.Gly296=) c.537C>G (p.Gly179=) | |
1 | g.155294718G= | CA1200112274 | PKLR | c.729C= (p.Gly243=) c.636C= (p.Gly212=) c.888C= (p.Gly296=) c.537C= (p.Gly179=) | |
1 | g.155294718G>T | CA421245828 | PKLR | c.729C>A (p.Gly243=) c.636C>A (p.Gly212=) c.888C>A (p.Gly296=) c.537C>A (p.Gly179=) | |
1 | g.155294719C>A | CA342754677 | PKLR | c.728G>T (p.Gly243Val) c.635G>T (p.Gly212Val) c.887G>T (p.Gly296Val) c.536G>T (p.Gly179Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294719C= | CA1200112275 | PKLR | c.728G= (p.Gly243=) c.635G= (p.Gly212=) c.887G= (p.Gly296=) c.536G= (p.Gly179=) | |
1 | g.155294719C>G | CA342754679 | PKLR | c.728G>C (p.Gly243Ala) c.635G>C (p.Gly212Ala) c.887G>C (p.Gly296Ala) c.536G>C (p.Gly179Ala) | |
1 | g.155294719C>T | CA342754681 | PKLR | c.728G>A (p.Gly243Asp) c.635G>A (p.Gly212Asp) c.887G>A (p.Gly296Asp) c.536G>A (p.Gly179Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294720C>A | CA342754685 | PKLR | c.727G>T (p.Gly243Cys) c.634G>T (p.Gly212Cys) c.886G>T (p.Gly296Cys) c.535G>T (p.Gly179Cys) | ClinVar |
1 | g.155294720C= | CA1148262846 | PKLR | c.727G= (p.Gly243=) c.634G= (p.Gly212=) c.886G= (p.Gly296=) c.535G= (p.Gly179=) | |
1 | g.155294720C>G | CA342754688 | PKLR | c.727G>C (p.Gly243Arg) c.634G>C (p.Gly212Arg) c.886G>C (p.Gly296Arg) c.535G>C (p.Gly179Arg) | ClinVar gnomAD v4 |
1 | g.155294720C>T | CA1144226 | PKLR | c.727G>A (p.Gly243Ser) c.634G>A (p.Gly212Ser) c.886G>A (p.Gly296Ser) c.535G>A (p.Gly179Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155294721G>A | CA1144227 | PKLR | c.726C>T (p.Asn242=) c.633C>T (p.Asn211=) c.885C>T (p.Asn295=) c.534C>T (p.Asn178=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294721G>C | CA342754693 | PKLR | c.726C>G (p.Asn242Lys) c.633C>G (p.Asn211Lys) c.885C>G (p.Asn295Lys) c.534C>G (p.Asn178Lys) | |
1 | g.155294721G= | CA1200112276 | PKLR | c.726C= (p.Asn242=) c.633C= (p.Asn211=) c.885C= (p.Asn295=) c.534C= (p.Asn178=) | |
1 | g.155294721G>T | CA342754691 | PKLR | c.726C>A (p.Asn242Lys) c.633C>A (p.Asn211Lys) c.885C>A (p.Asn295Lys) c.534C>A (p.Asn178Lys) | |
1 | g.155294722T>A | CA342754694 | PKLR | c.725A>T (p.Asn242Ile) c.632A>T (p.Asn211Ile) c.884A>T (p.Asn295Ile) c.533A>T (p.Asn178Ile) | |
1 | g.155294722T>C | CA342754695 | PKLR | c.725A>G (p.Asn242Ser) c.632A>G (p.Asn211Ser) c.884A>G (p.Asn295Ser) c.533A>G (p.Asn178Ser) | |
1 | g.155294722T>G | CA342754696 | PKLR | c.725A>C (p.Asn242Thr) c.632A>C (p.Asn211Thr) c.884A>C (p.Asn295Thr) c.533A>C (p.Asn178Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294722T= | CA1200112277 | PKLR | c.725A= (p.Asn242=) c.632A= (p.Asn211=) c.884A= (p.Asn295=) c.533A= (p.Asn178=) | |
1 | g.155294723T>A | CA342754699 | PKLR | c.724A>T (p.Asn242Tyr) c.631A>T (p.Asn211Tyr) c.883A>T (p.Asn295Tyr) c.532A>T (p.Asn178Tyr) | |
1 | g.155294723T>C | CA342754701 | PKLR | c.724A>G (p.Asn242Asp) c.631A>G (p.Asn211Asp) c.883A>G (p.Asn295Asp) c.532A>G (p.Asn178Asp) | |
1 | g.155294723T>G | CA342754702 | PKLR | c.724A>C (p.Asn242His) c.631A>C (p.Asn211His) c.883A>C (p.Asn295His) c.532A>C (p.Asn178His) | |
1 | g.155294724C>A | CA342754704 | PKLR | c.723G>T (p.Glu241Asp) c.630G>T (p.Glu210Asp) c.882G>T (p.Glu294Asp) c.531G>T (p.Glu177Asp) | |
1 | g.155294724C>G | CA342754706 | PKLR | c.723G>C (p.Glu241Asp) c.630G>C (p.Glu210Asp) c.882G>C (p.Glu294Asp) c.531G>C (p.Glu177Asp) | |
1 | g.155294724C>T | CA421020441 | PKLR | c.723G>A (p.Glu241=) c.630G>A (p.Glu210=) c.882G>A (p.Glu294=) c.531G>A (p.Glu177=) | |
1 | g.155294725T>A | CA1144228 | PKLR | c.722A>T (p.Glu241Val) c.629A>T (p.Glu210Val) c.881A>T (p.Glu294Val) c.530A>T (p.Glu177Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294725T>C | CA342754710 | PKLR | c.722A>G (p.Glu241Gly) c.629A>G (p.Glu210Gly) c.881A>G (p.Glu294Gly) c.530A>G (p.Glu177Gly) | gnomAD v4 |
1 | g.155294725T>G | CA342754712 | PKLR | c.722A>C (p.Glu241Ala) c.629A>C (p.Glu210Ala) c.881A>C (p.Glu294Ala) c.530A>C (p.Glu177Ala) | |
1 | g.155294725T= | CA1200112278 | PKLR | c.722A= (p.Glu241=) c.629A= (p.Glu210=) c.881A= (p.Glu294=) c.530A= (p.Glu177=) | |
1 | g.155294726C>A | CA1144229 | PKLR | c.721G>T (p.Glu241Ter) c.628G>T (p.Glu210Ter) c.880G>T (p.Glu294Ter) c.529G>T (p.Glu177Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294726C= | CA1143516348 | PKLR | c.721G= (p.Glu241=) c.628G= (p.Glu210=) c.880G= (p.Glu294=) c.529G= (p.Glu177=) | |
1 | g.155294726C>G | CA342754715 | PKLR | c.721G>C (p.Glu241Gln) c.628G>C (p.Glu210Gln) c.880G>C (p.Glu294Gln) c.529G>C (p.Glu177Gln) | |
1 | g.155294726C>T | CA342754717 | PKLR | c.721G>A (p.Glu241Lys) c.628G>A (p.Glu210Lys) c.880G>A (p.Glu294Lys) c.529G>A (p.Glu177Lys) | |
1 | g.155294727C>A | CA421020442 | PKLR | c.720G>T (p.Val240=) c.627G>T (p.Val209=) c.879G>T (p.Val293=) c.528G>T (p.Val176=) | |
1 | g.155294727C>G | CA421020443 | PKLR | c.720G>C (p.Val240=) c.627G>C (p.Val209=) c.879G>C (p.Val293=) c.528G>C (p.Val176=) | |
1 | g.155294727C>T | CA421020444 | PKLR | c.720G>A (p.Val240=) c.627G>A (p.Val209=) c.879G>A (p.Val293=) c.528G>A (p.Val176=) | gnomAD v4 |
1 | g.155294728del | CA2648269458 | PKLR | c.719del (p.Val240GlyfsTer13) c.626del (p.Val209GlyfsTer13) c.878del (p.Val293GlyfsTer13) c.527del (p.Val176GlyfsTer13) | gnomAD v4 |
1 | g.155294728A>C | CA342754721 | PKLR | c.719T>G (p.Val240Gly) c.626T>G (p.Val209Gly) c.878T>G (p.Val293Gly) c.527T>G (p.Val176Gly) | |
1 | g.155294728A>G | CA342754720 | PKLR | c.719T>C (p.Val240Ala) c.626T>C (p.Val209Ala) c.878T>C (p.Val293Ala) c.527T>C (p.Val176Ala) | |
1 | g.155294728A>T | CA342754718 | PKLR | c.719T>A (p.Val240Glu) c.626T>A (p.Val209Glu) c.878T>A (p.Val293Glu) c.527T>A (p.Val176Glu) | |
1 | g.155294729C>A | CA342754723 | PKLR | c.718G>T (p.Val240Leu) c.625G>T (p.Val209Leu) c.877G>T (p.Val293Leu) c.526G>T (p.Val176Leu) | |
1 | g.155294729C>G | CA342754724 | PKLR | c.718G>C (p.Val240Leu) c.625G>C (p.Val209Leu) c.877G>C (p.Val293Leu) c.526G>C (p.Val176Leu) | |
1 | g.155294729C>T | CA342754726 | PKLR | c.718G>A (p.Val240Met) c.625G>A (p.Val209Met) c.877G>A (p.Val293Met) c.526G>A (p.Val176Met) | gnomAD v4 |
1 | g.155294730T>A | CA342754772 | PKLR | c.717A>T (p.Gln239His) c.624A>T (p.Gln208His) c.876A>T (p.Gln292His) c.525A>T (p.Gln175His) | |
1 | g.155294730T>C | CA30903519 | PKLR | c.717A>G (p.Gln239=) c.624A>G (p.Gln208=) c.876A>G (p.Gln292=) c.525A>G (p.Gln175=) | dbSNP |
1 | g.155294730T>G | CA342754773 | PKLR | c.717A>C (p.Gln239His) c.624A>C (p.Gln208His) c.876A>C (p.Gln292His) c.525A>C (p.Gln175His) | |
1 | g.155294730T= | CA1200112279 | PKLR | c.717A= (p.Gln239=) c.624A= (p.Gln208=) c.876A= (p.Gln292=) c.525A= (p.Gln175=) | |
1 | g.155294731T>A | CA342754776 | PKLR | c.716A>T (p.Gln239Leu) c.623A>T (p.Gln208Leu) c.875A>T (p.Gln292Leu) c.524A>T (p.Gln175Leu) | |
1 | g.155294731T>C | CA342754777 | PKLR | c.716A>G (p.Gln239Arg) c.623A>G (p.Gln208Arg) c.875A>G (p.Gln292Arg) c.524A>G (p.Gln175Arg) | |
1 | g.155294731T>G | CA342754779 | PKLR | c.716A>C (p.Gln239Pro) c.623A>C (p.Gln208Pro) c.875A>C (p.Gln292Pro) c.524A>C (p.Gln175Pro) | ClinVar |
1 | g.155294731T= | CA1200112280 | PKLR | c.716A= (p.Gln239=) c.623A= (p.Gln208=) c.875A= (p.Gln292=) c.524A= (p.Gln175=) | |
1 | g.155294732G>A | CA342754781 | PKLR | c.715C>T (p.Gln239Ter) c.622C>T (p.Gln208Ter) c.874C>T (p.Gln292Ter) c.523C>T (p.Gln175Ter) | gnomAD v4 |
1 | g.155294732G>C | CA342754783 | PKLR | c.715C>G (p.Gln239Glu) c.622C>G (p.Gln208Glu) c.874C>G (p.Gln292Glu) c.523C>G (p.Gln175Glu) | |
1 | g.155294732G>T | CA342754785 | PKLR | c.715C>A (p.Gln239Lys) c.622C>A (p.Gln208Lys) c.874C>A (p.Gln292Lys) c.523C>A (p.Gln175Lys) | gnomAD v4 |
1 | g.155294733_155294734dup | CA526668871 | PKLR | c.714_715dup (p.Gln239ProfsTer15) c.621_622dup (p.Gln208ProfsTer15) c.873_874dup (p.Gln292ProfsTer15) c.522_523dup (p.Gln175ProfsTer15) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294733G>A | CA421020445 | PKLR | c.714C>T (p.Thr238=) c.621C>T (p.Thr207=) c.873C>T (p.Thr291=) c.522C>T (p.Thr174=) | |
1 | g.155294733G>C | CA421020446 | PKLR | c.714C>G (p.Thr238=) c.621C>G (p.Thr207=) c.873C>G (p.Thr291=) c.522C>G (p.Thr174=) | |
1 | g.155294733G>T | CA421020447 | PKLR | c.714C>A (p.Thr238=) c.621C>A (p.Thr207=) c.873C>A (p.Thr291=) c.522C>A (p.Thr174=) | |
1 | g.155294734G>A | CA342754787 | PKLR | c.713C>T (p.Thr238Ile) c.620C>T (p.Thr207Ile) c.872C>T (p.Thr291Ile) c.521C>T (p.Thr174Ile) | |
1 | g.155294734G>C | CA342754789 | PKLR | c.713C>G (p.Thr238Ser) c.620C>G (p.Thr207Ser) c.872C>G (p.Thr291Ser) c.521C>G (p.Thr174Ser) | |
1 | g.155294734G>T | CA342754802 | PKLR | c.713C>A (p.Thr238Asn) c.620C>A (p.Thr207Asn) c.872C>A (p.Thr291Asn) c.521C>A (p.Thr174Asn) | gnomAD v4 |
1 | g.155294735T>A | CA342754807 | PKLR | c.712A>T (p.Thr238Ser) c.619A>T (p.Thr207Ser) c.871A>T (p.Thr291Ser) c.520A>T (p.Thr174Ser) | |
1 | g.155294735T>C | CA342754806 | PKLR | c.712A>G (p.Thr238Ala) c.619A>G (p.Thr207Ala) c.871A>G (p.Thr291Ala) c.520A>G (p.Thr174Ala) | |
1 | g.155294735T>G | CA342754804 | PKLR | c.712A>C (p.Thr238Pro) c.619A>C (p.Thr207Pro) c.871A>C (p.Thr291Pro) c.520A>C (p.Thr174Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294735T= | CA1200112281 | PKLR | c.712A= (p.Thr238=) c.619A= (p.Thr207=) c.871A= (p.Thr291=) c.520A= (p.Thr174=) | |
1 | g.155294736C>A | CA421020448 | PKLR | c.711G>T (p.Val237=) c.618G>T (p.Val206=) c.870G>T (p.Val290=) c.519G>T (p.Val173=) | |
1 | g.155294736C>G | CA421020449 | PKLR | c.711G>C (p.Val237=) c.618G>C (p.Val206=) c.870G>C (p.Val290=) c.519G>C (p.Val173=) | |
1 | g.155294736C>T | CA421020450 | PKLR | c.711G>A (p.Val237=) c.618G>A (p.Val206=) c.870G>A (p.Val290=) c.519G>A (p.Val173=) | |
1 | g.155294737A>C | CA342754811 | PKLR | c.710T>G (p.Val237Gly) c.617T>G (p.Val206Gly) c.869T>G (p.Val290Gly) c.518T>G (p.Val173Gly) | |
1 | g.155294737A>G | CA342754812 | PKLR | c.710T>C (p.Val237Ala) c.617T>C (p.Val206Ala) c.869T>C (p.Val290Ala) c.518T>C (p.Val173Ala) | |
1 | g.155294737A>T | CA342754814 | PKLR | c.710T>A (p.Val237Glu) c.617T>A (p.Val206Glu) c.869T>A (p.Val290Glu) c.518T>A (p.Val173Glu) | |
1 | g.155294738C>A | CA342754816 | PKLR | c.709G>T (p.Val237Leu) c.616G>T (p.Val206Leu) c.868G>T (p.Val290Leu) c.517G>T (p.Val173Leu) | |
1 | g.155294738C= | CA1200112282 | PKLR | c.709G= (p.Val237=) c.616G= (p.Val206=) c.868G= (p.Val290=) c.517G= (p.Val173=) | |
1 | g.155294738C>G | CA342754818 | PKLR | c.709G>C (p.Val237Leu) c.616G>C (p.Val206Leu) c.868G>C (p.Val290Leu) c.517G>C (p.Val173Leu) | |
1 | g.155294738C>T | CA342754820 | PKLR | c.709G>A (p.Val237Met) c.616G>A (p.Val206Met) c.868G>A (p.Val290Met) c.517G>A (p.Val173Met) | dbSNP |
1 | g.155294739C>A | CA421020451 | PKLR | c.708G>T (p.Leu236=) c.615G>T (p.Leu205=) c.867G>T (p.Leu289=) c.516G>T (p.Leu172=) | |
1 | g.155294739C= | CA1200112283 | PKLR | c.708G= (p.Leu236=) c.615G= (p.Leu205=) c.867G= (p.Leu289=) c.516G= (p.Leu172=) | |
1 | g.155294739C>G | CA30903523 | PKLR | c.708G>C (p.Leu236=) c.615G>C (p.Leu205=) c.867G>C (p.Leu289=) c.516G>C (p.Leu172=) | dbSNP gnomAD v4 |
1 | g.155294739C>T | CA421020452 | PKLR | c.708G>A (p.Leu236=) c.615G>A (p.Leu205=) c.867G>A (p.Leu289=) c.516G>A (p.Leu172=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294740A= | CA1200112284 | PKLR | c.707T= (p.Leu236=) c.614T= (p.Leu205=) c.866T= (p.Leu289=) c.515T= (p.Leu172=) | |
1 | g.155294740A>C | CA342754826 | PKLR | c.707T>G (p.Leu236Arg) c.614T>G (p.Leu205Arg) c.866T>G (p.Leu289Arg) c.515T>G (p.Leu172Arg) | |
1 | g.155294740A>G | CA30903524 | PKLR | c.707T>C (p.Leu236Pro) c.614T>C (p.Leu205Pro) c.866T>C (p.Leu289Pro) c.515T>C (p.Leu172Pro) | dbSNP |
1 | g.155294740A>T | CA342754824 | PKLR | c.707T>A (p.Leu236Gln) c.614T>A (p.Leu205Gln) c.866T>A (p.Leu289Gln) c.515T>A (p.Leu172Gln) | |
1 | g.155294741G>A | CA421020453 | PKLR | c.706C>T (p.Leu236=) c.613C>T (p.Leu205=) c.865C>T (p.Leu289=) c.514C>T (p.Leu172=) | |
1 | g.155294741G>C | CA342754828 | PKLR | c.706C>G (p.Leu236Val) c.613C>G (p.Leu205Val) c.865C>G (p.Leu289Val) c.514C>G (p.Leu172Val) | |
1 | g.155294741G>T | CA342754830 | PKLR | c.706C>A (p.Leu236Met) c.613C>A (p.Leu205Met) c.865C>A (p.Leu289Met) c.514C>A (p.Leu172Met) | |
1 | g.155294742T>A | CA421020456 | PKLR | c.705A>T (p.Gly235=) c.612A>T (p.Gly204=) c.864A>T (p.Gly288=) c.513A>T (p.Gly171=) | gnomAD v4 |
1 | g.155294742T>C | CA421020455 | PKLR | c.705A>G (p.Gly235=) c.612A>G (p.Gly204=) c.864A>G (p.Gly288=) c.513A>G (p.Gly171=) | |
1 | g.155294742T>G | CA421020454 | PKLR | c.705A>C (p.Gly235=) c.612A>C (p.Gly204=) c.864A>C (p.Gly288=) c.513A>C (p.Gly171=) | gnomAD v4 |
1 | g.155294743C>A | CA30903525 | PKLR | c.704G>T (p.Gly235Val) c.611G>T (p.Gly204Val) c.863G>T (p.Gly288Val) c.512G>T (p.Gly171Val) | dbSNP gnomAD v4 |
1 | g.155294743C= | CA1200112285 | PKLR | c.704G= (p.Gly235=) c.611G= (p.Gly204=) c.863G= (p.Gly288=) c.512G= (p.Gly171=) | |
1 | g.155294743C>G | CA342754833 | PKLR | c.704G>C (p.Gly235Ala) c.611G>C (p.Gly204Ala) c.863G>C (p.Gly288Ala) c.512G>C (p.Gly171Ala) | |
1 | g.155294743C>T | CA342754835 | PKLR | c.704G>A (p.Gly235Glu) c.611G>A (p.Gly204Glu) c.863G>A (p.Gly288Glu) c.512G>A (p.Gly171Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294744C>A | CA342754841 | PKLR | c.703G>T (p.Gly235Ter) c.610G>T (p.Gly204Ter) c.862G>T (p.Gly288Ter) c.511G>T (p.Gly171Ter) | |
1 | g.155294744C>G | CA342754838 | PKLR | c.703G>C (p.Gly235Arg) c.610G>C (p.Gly204Arg) c.862G>C (p.Gly288Arg) c.511G>C (p.Gly171Arg) | |
1 | g.155294744C>T | CA342754839 | PKLR | c.703G>A (p.Gly235Arg) c.610G>A (p.Gly204Arg) c.862G>A (p.Gly288Arg) c.511G>A (p.Gly171Arg) | gnomAD v4 |
1 | g.155294745C>A | CA342754844 | PKLR | c.702G>T (p.Glu234Asp) c.609G>T (p.Glu203Asp) c.861G>T (p.Glu287Asp) c.510G>T (p.Glu170Asp) | |
1 | g.155294745C>G | CA342754845 | PKLR | c.702G>C (p.Glu234Asp) c.609G>C (p.Glu203Asp) c.861G>C (p.Glu287Asp) c.510G>C (p.Glu170Asp) | gnomAD v4 |
1 | g.155294745C>T | CA421020457 | PKLR | c.702G>A (p.Glu234=) c.609G>A (p.Glu203=) c.861G>A (p.Glu287=) c.510G>A (p.Glu170=) | gnomAD v4 |
1 | g.155294746T>A | CA342754847 | PKLR | c.701A>T (p.Glu234Val) c.608A>T (p.Glu203Val) c.860A>T (p.Glu287Val) c.509A>T (p.Glu170Val) | |
1 | g.155294746T>C | CA342754849 | PKLR | c.701A>G (p.Glu234Gly) c.608A>G (p.Glu203Gly) c.860A>G (p.Glu287Gly) c.509A>G (p.Glu170Gly) | gnomAD v4 |
1 | g.155294746T>G | CA342754851 | PKLR | c.701A>C (p.Glu234Ala) c.608A>C (p.Glu203Ala) c.860A>C (p.Glu287Ala) c.509A>C (p.Glu170Ala) | |
1 | g.155294747C>A | CA342754853 | PKLR | c.700G>T (p.Glu234Ter) c.607G>T (p.Glu203Ter) c.859G>T (p.Glu287Ter) c.508G>T (p.Glu170Ter) | |
1 | g.155294747C>G | CA342754855 | PKLR | c.700G>C (p.Glu234Gln) c.607G>C (p.Glu203Gln) c.859G>C (p.Glu287Gln) c.508G>C (p.Glu170Gln) | |
1 | g.155294747C>T | CA342754857 | PKLR | c.700G>A (p.Glu234Lys) c.607G>A (p.Glu203Lys) c.859G>A (p.Glu287Lys) c.508G>A (p.Glu170Lys) | |
1 | g.155294748T>A | CA421020458 | PKLR | c.699A>T (p.Pro233=) c.606A>T (p.Pro202=) c.858A>T (p.Pro286=) c.507A>T (p.Pro169=) | |
1 | g.155294748T>C | CA1144230 | PKLR | c.699A>G (p.Pro233=) c.606A>G (p.Pro202=) c.858A>G (p.Pro286=) c.507A>G (p.Pro169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294748T>G | CA421020459 | PKLR | c.699A>C (p.Pro233=) c.606A>C (p.Pro202=) c.858A>C (p.Pro286=) c.507A>C (p.Pro169=) | |
1 | g.155294748T= | CA1200112286 | PKLR | c.699A= (p.Pro233=) c.606A= (p.Pro202=) c.858A= (p.Pro286=) c.507A= (p.Pro169=) | |
1 | g.155294749G>A | CA342754861 | PKLR | c.698C>T (p.Pro233Leu) c.605C>T (p.Pro202Leu) c.857C>T (p.Pro286Leu) c.506C>T (p.Pro169Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294749G>C | CA342754863 | PKLR | c.698C>G (p.Pro233Arg) c.605C>G (p.Pro202Arg) c.857C>G (p.Pro286Arg) c.506C>G (p.Pro169Arg) | |
1 | g.155294749G= | CA1200112287 | PKLR | c.698C= (p.Pro233=) c.605C= (p.Pro202=) c.857C= (p.Pro286=) c.506C= (p.Pro169=) | |
1 | g.155294749G>T | CA342754865 | PKLR | c.698C>A (p.Pro233Gln) c.605C>A (p.Pro202Gln) c.857C>A (p.Pro286Gln) c.506C>A (p.Pro169Gln) | |
1 | g.155294750G>A | CA342754870 | PKLR | c.697C>T (p.Pro233Ser) c.604C>T (p.Pro202Ser) c.856C>T (p.Pro286Ser) c.505C>T (p.Pro169Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294750G>C | CA342754867 | PKLR | c.697C>G (p.Pro233Ala) c.604C>G (p.Pro202Ala) c.856C>G (p.Pro286Ala) c.505C>G (p.Pro169Ala) | |
1 | g.155294750G= | CA1200112288 | PKLR | c.697C= (p.Pro233=) c.604C= (p.Pro202=) c.856C= (p.Pro286=) c.505C= (p.Pro169=) | |
1 | g.155294750G>T | CA342754868 | PKLR | c.697C>A (p.Pro233Thr) c.604C>A (p.Pro202Thr) c.856C>A (p.Pro286Thr) c.505C>A (p.Pro169Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294751G>A | CA421020461 | PKLR | c.696C>T (p.Gly232=) c.603C>T (p.Gly201=) c.855C>T (p.Gly285=) c.504C>T (p.Gly168=) | dbSNP |
1 | g.155294751G>C | CA421020462 | PKLR | c.696C>G (p.Gly232=) c.603C>G (p.Gly201=) c.855C>G (p.Gly285=) c.504C>G (p.Gly168=) | |
1 | g.155294751G= | CA1200112289 | PKLR | c.696C= (p.Gly232=) c.603C= (p.Gly201=) c.855C= (p.Gly285=) c.504C= (p.Gly168=) | |
1 | g.155294751G>T | CA421020463 | PKLR | c.696C>A (p.Gly232=) c.603C>A (p.Gly201=) c.855C>A (p.Gly285=) c.504C>A (p.Gly168=) | gnomAD v4 |
1 | g.155294752C>A | CA342754873 | PKLR | c.695G>T (p.Gly232Val) c.602G>T (p.Gly201Val) c.854G>T (p.Gly285Val) c.503G>T (p.Gly168Val) | |
1 | g.155294752C= | CA1200112290 | PKLR | c.695G= (p.Gly232=) c.602G= (p.Gly201=) c.854G= (p.Gly285=) c.503G= (p.Gly168=) | |
1 | g.155294752C>G | CA342754876 | PKLR | c.695G>C (p.Gly232Ala) c.602G>C (p.Gly201Ala) c.854G>C (p.Gly285Ala) c.503G>C (p.Gly168Ala) | |
1 | g.155294752C>T | CA342754875 | PKLR | c.695G>A (p.Gly232Asp) c.602G>A (p.Gly201Asp) c.854G>A (p.Gly285Asp) c.503G>A (p.Gly168Asp) | dbSNP gnomAD v2 |
1 | g.155294753C>A | CA342754879 | PKLR | c.695-1G>T (n.695-1G>T) c.602-1G>T (n.602-1G>T) c.854-1G>T (n.854-1G>T) c.503-1G>T (n.503-1G>T) | |
1 | g.155294753C>G | CA342754881 | PKLR | c.695-1G>C (n.695-1G>C) c.602-1G>C (n.602-1G>C) c.854-1G>C (n.854-1G>C) c.503-1G>C (n.503-1G>C) | gnomAD v4 |
1 | g.155294753C>T | CA342754882 | PKLR | c.695-1G>A (n.695-1G>A) c.602-1G>A (n.602-1G>A) c.854-1G>A (n.854-1G>A) c.503-1G>A (n.503-1G>A) | ClinVar |
1 | g.155294754T>A | CA30903533 | PKLR | c.695-2A>T (n.695-2A>T) c.602-2A>T (n.602-2A>T) c.854-2A>T (n.854-2A>T) c.503-2A>T (n.503-2A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294754T>C | CA342754886 | PKLR | c.695-2A>G (n.695-2A>G) c.602-2A>G (n.602-2A>G) c.854-2A>G (n.854-2A>G) c.503-2A>G (n.503-2A>G) | |
1 | g.155294754T>G | CA342754887 | PKLR | c.695-2A>C (n.695-2A>C) c.602-2A>C (n.602-2A>C) c.854-2A>C (n.854-2A>C) c.503-2A>C (n.503-2A>C) | |
1 | g.155294754T= | CA1149107127 | PKLR | c.695-2A= (n.695-2A=) c.602-2A= (n.602-2A=) c.854-2A= (n.854-2A=) c.503-2A= (n.503-2A=) | |
1 | g.155294755G>C | CA30903539 | PKLR | c.695-3C>G (n.695-3C>G) c.602-3C>G (n.602-3C>G) c.854-3C>G (n.854-3C>G) c.503-3C>G (n.503-3C>G) | ClinVar dbSNP gnomAD v4 |
1 | g.155294755G= | CA1200112291 | PKLR | c.695-3C= (n.695-3C=) c.602-3C= (n.602-3C=) c.854-3C= (n.854-3C=) c.503-3C= (n.503-3C=) | |
1 | g.155294756C>A | CA1144231 | PKLR | c.695-4G>T (n.695-4G>T) c.602-4G>T (n.602-4G>T) c.854-4G>T (n.854-4G>T) c.503-4G>T (n.503-4G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294756C= | CA1147760318 | PKLR | c.695-4G= (n.695-4G=) c.602-4G= (n.602-4G=) c.854-4G= (n.854-4G=) c.503-4G= (n.503-4G=) | |
1 | g.155294756C>T | CA526668872 | PKLR | c.695-4G>A (n.695-4G>A) c.602-4G>A (n.602-4G>A) c.854-4G>A (n.854-4G>A) c.503-4G>A (n.503-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294757G>A | CA2648269501 | PKLR | c.695-5C>T (n.695-5C>T) c.602-5C>T (n.602-5C>T) c.854-5C>T (n.854-5C>T) c.503-5C>T (n.503-5C>T) | gnomAD v4 |
1 | g.155294757G>C | CA2648269502 | PKLR | c.695-5C>G (n.695-5C>G) c.602-5C>G (n.602-5C>G) c.854-5C>G (n.854-5C>G) c.503-5C>G (n.503-5C>G) | gnomAD v4 |
1 | g.155294757G= | CA1200112292 | PKLR | c.695-5C= (n.695-5C=) c.602-5C= (n.602-5C=) c.854-5C= (n.854-5C=) c.503-5C= (n.503-5C=) | |
1 | g.155294757G>T | CA526668873 | PKLR | c.695-5C>A (n.695-5C>A) c.602-5C>A (n.602-5C>A) c.854-5C>A (n.854-5C>A) c.503-5C>A (n.503-5C>A) | dbSNP gnomAD v2 |
1 | g.155294758G>A | CA2746213719 | PKLR | c.695-6C>T (n.695-6C>T) c.602-6C>T (n.602-6C>T) c.854-6C>T (n.854-6C>T) c.503-6C>T (n.503-6C>T) | |
1 | g.155294760C= | CA1200112293 | PKLR | c.695-8G= (n.695-8G=) c.602-8G= (n.602-8G=) c.854-8G= (n.854-8G=) c.503-8G= (n.503-8G=) | |
1 | g.155294760C>G | CA2648269505 | PKLR | c.695-8G>C (n.695-8G>C) c.602-8G>C (n.602-8G>C) c.854-8G>C (n.854-8G>C) c.503-8G>C (n.503-8G>C) | gnomAD v4 |
1 | g.155294760C>T | CA1144232 | PKLR | c.695-8G>A (n.695-8G>A) c.602-8G>A (n.602-8G>A) c.854-8G>A (n.854-8G>A) c.503-8G>A (n.503-8G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294761A>G | CA2573918401 | PKLR | c.695-9T>C (n.695-9T>C) c.602-9T>C (n.602-9T>C) c.854-9T>C (n.854-9T>C) c.503-9T>C (n.503-9T>C) | gnomAD v4 |
1 | g.155294762_155294790delinsTGGAAAGAGCCAGCTGCGGTCAGGGGTGA | CA1200112294 | PKLR | c.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA) c.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA) c.854-38_854-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.854-38_854-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA) c.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA) | |
1 | g.155294766_155294793del | CA1144233 | PKLR | c.695-38_695-11del (n.695-38_695-11del) c.602-38_602-11del (n.602-38_602-11del) c.854-38_854-11del (n.854-38_854-11del) c.503-38_503-11del (n.503-38_503-11del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294764G>A | CA2648269509 | PKLR | c.695-12C>T (n.695-12C>T) c.602-12C>T (n.602-12C>T) c.854-12C>T (n.854-12C>T) c.503-12C>T (n.503-12C>T) | gnomAD v4 |
1 | g.155294764G>T | CA2648269510 | PKLR | c.695-12C>A (n.695-12C>A) c.602-12C>A (n.602-12C>A) c.854-12C>A (n.854-12C>A) c.503-12C>A (n.503-12C>A) | gnomAD v4 |
1 | g.155294764_155294765delinsGA | CA1200112295 | PKLR | c.695-13_695-12delinsTC (n.695-13_695-12delinsTC) c.602-13_602-12delinsTC (n.602-13_602-12delinsTC) c.854-13_854-12delinsTC (n.854-13_854-12delinsTC) c.503-13_503-12delinsTC (n.503-13_503-12delinsTC) | |
1 | g.155294765A= | CA1200112296 | PKLR | c.695-13T= (n.695-13T=) c.602-13T= (n.602-13T=) c.854-13T= (n.854-13T=) c.503-13T= (n.503-13T=) | |
1 | g.155294765A>G | CA30903558 | PKLR | c.695-13T>C (n.695-13T>C) c.602-13T>C (n.602-13T>C) c.854-13T>C (n.854-13T>C) c.503-13T>C (n.503-13T>C) | dbSNP |
1 | g.155294765A>T | CA2648269516 | PKLR | c.695-13T>A (n.695-13T>A) c.602-13T>A (n.602-13T>A) c.854-13T>A (n.854-13T>A) c.503-13T>A (n.503-13T>A) | gnomAD v4 |
1 | g.155294767del | CA1144234 | PKLR | c.695-13del (n.695-13del) c.602-13del (n.602-13del) c.854-13del (n.854-13del) c.503-13del (n.503-13del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294767A>G | CA2573568427 | PKLR | c.695-15T>C (n.695-15T>C) c.602-15T>C (n.602-15T>C) c.854-15T>C (n.854-15T>C) c.503-15T>C (n.503-15T>C) | |
1 | g.155294768G>A | CA2573568428 | PKLR | c.695-16C>T (n.695-16C>T) c.602-16C>T (n.602-16C>T) c.854-16C>T (n.854-16C>T) c.503-16C>T (n.503-16C>T) | gnomAD v4 |
1 | g.155294768_155294772delinsGAGCC | CA1200112297 | PKLR | c.695-20_695-16delinsGGCTC (n.695-20_695-16delinsGGCTC) c.602-20_602-16delinsGGCTC (n.602-20_602-16delinsGGCTC) c.854-20_854-16delinsGGCTC (n.854-20_854-16delinsGGCTC) c.503-20_503-16delinsGGCTC (n.503-20_503-16delinsGGCTC) | |
1 | g.155294772_155294775del | CA526668874 | PKLR | c.695-20_695-17del (n.695-20_695-17del) c.602-20_602-17del (n.602-20_602-17del) c.854-20_854-17del (n.854-20_854-17del) c.503-20_503-17del (n.503-20_503-17del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294771C= | CA1200112299 | PKLR | c.695-19G= (n.695-19G=) c.602-19G= (n.602-19G=) c.854-19G= (n.854-19G=) c.503-19G= (n.503-19G=) | |
1 | g.155294771C>T | CA1200112298 | PKLR | c.695-19G>A (n.695-19G>A) c.602-19G>A (n.602-19G>A) c.854-19G>A (n.854-19G>A) c.503-19G>A (n.503-19G>A) | dbSNP |
1 | g.155294774G>A | CA1144235 | PKLR | c.695-22C>T (n.695-22C>T) c.602-22C>T (n.602-22C>T) c.854-22C>T (n.854-22C>T) c.503-22C>T (n.503-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294774G>C | CA2648269523 | PKLR | c.695-22C>G (n.695-22C>G) c.602-22C>G (n.602-22C>G) c.854-22C>G (n.854-22C>G) c.503-22C>G (n.503-22C>G) | gnomAD v4 |
1 | g.155294774G= | CA1200112300 | PKLR | c.695-22C= (n.695-22C=) c.602-22C= (n.602-22C=) c.854-22C= (n.854-22C=) c.503-22C= (n.503-22C=) | |
1 | g.155294774G>T | CA2573918405 | PKLR | c.695-22C>A (n.695-22C>A) c.602-22C>A (n.602-22C>A) c.854-22C>A (n.854-22C>A) c.503-22C>A (n.503-22C>A) | |
1 | g.155294775C>A | CA2648269524 | PKLR | c.695-23G>T (n.695-23G>T) c.602-23G>T (n.602-23G>T) c.854-23G>T (n.854-23G>T) c.503-23G>T (n.503-23G>T) | gnomAD v4 |
1 | g.155294777G>A | CA2573568429 | PKLR | c.695-25C>T (n.695-25C>T) c.602-25C>T (n.602-25C>T) c.854-25C>T (n.854-25C>T) c.503-25C>T (n.503-25C>T) |