Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155294450A>GCA2648269166PKLRc.965+32T>C (n.965+32T>C)
c.872+32T>C (n.872+32T>C)
c.1124+32T>C (n.1124+32T>C)
c.773+32T>C (n.773+32T>C)
 gnomAD v4
1g.155294451G>ACA2573568425PKLRc.965+31C>T (n.965+31C>T)
c.872+31C>T (n.872+31C>T)
c.1124+31C>T (n.1124+31C>T)
c.773+31C>T (n.773+31C>T)
1g.155294451G>CCA2648269167PKLRc.965+31C>G (n.965+31C>G)
c.872+31C>G (n.872+31C>G)
c.1124+31C>G (n.1124+31C>G)
c.773+31C>G (n.773+31C>G)
 gnomAD v4
1g.155294453G>TCA2746213710PKLRc.965+29C>A (n.965+29C>A)
c.872+29C>A (n.872+29C>A)
c.1124+29C>A (n.1124+29C>A)
c.773+29C>A (n.773+29C>A)
1g.155294454C=CA1200112157PKLRc.965+28G= (n.965+28G=)
c.872+28G= (n.872+28G=)
c.1124+28G= (n.1124+28G=)
c.773+28G= (n.773+28G=)
1g.155294454C>GCA2648269168PKLRc.965+28G>C (n.965+28G>C)
c.872+28G>C (n.872+28G>C)
c.1124+28G>C (n.1124+28G>C)
c.773+28G>C (n.773+28G>C)
 gnomAD v4
1g.155294454C>TCA1200112158PKLRc.965+28G>A (n.965+28G>A)
c.872+28G>A (n.872+28G>A)
c.1124+28G>A (n.1124+28G>A)
c.773+28G>A (n.773+28G>A)
 dbSNP
1g.155294455C>ACA1200112160PKLRc.965+27G>T (n.965+27G>T)
c.872+27G>T (n.872+27G>T)
c.1124+27G>T (n.1124+27G>T)
c.773+27G>T (n.773+27G>T)
 dbSNP
1g.155294455C=CA1200112159PKLRc.965+27G= (n.965+27G=)
c.872+27G= (n.872+27G=)
c.1124+27G= (n.1124+27G=)
c.773+27G= (n.773+27G=)
1g.155294455C>GCA1200112161PKLRc.965+27G>C (n.965+27G>C)
c.872+27G>C (n.872+27G>C)
c.1124+27G>C (n.1124+27G>C)
c.773+27G>C (n.773+27G>C)
 dbSNP
1g.155294455C>TCA30903133PKLRc.965+27G>A (n.965+27G>A)
c.872+27G>A (n.872+27G>A)
c.1124+27G>A (n.1124+27G>A)
c.773+27G>A (n.773+27G>A)
 dbSNP gnomAD v4
1g.155294456G>ACA30903137PKLRc.965+26C>T (n.965+26C>T)
c.872+26C>T (n.872+26C>T)
c.1124+26C>T (n.1124+26C>T)
c.773+26C>T (n.773+26C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294456G>CCA1144161PKLRc.965+26C>G (n.965+26C>G)
c.872+26C>G (n.872+26C>G)
c.1124+26C>G (n.1124+26C>G)
c.773+26C>G (n.773+26C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294456G=CA1148307543PKLRc.965+26C= (n.965+26C=)
c.872+26C= (n.872+26C=)
c.1124+26C= (n.1124+26C=)
c.773+26C= (n.773+26C=)
1g.155294457A=CA1200112162PKLRc.965+25T= (n.965+25T=)
c.872+25T= (n.872+25T=)
c.1124+25T= (n.1124+25T=)
c.773+25T= (n.773+25T=)
1g.155294457A>GCA526668565PKLRc.965+25T>C (n.965+25T>C)
c.872+25T>C (n.872+25T>C)
c.1124+25T>C (n.1124+25T>C)
c.773+25T>C (n.773+25T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.155294458_155294460delinsAGGCA1200112163PKLRc.965+22_965+24delinsCCT (n.965+22_965+24delinsCCT)
c.872+22_872+24delinsCCT (n.872+22_872+24delinsCCT)
c.1124+22_1124+24delinsCCT (n.1124+22_1124+24delinsCCT)
c.773+22_773+24delinsCCT (n.773+22_773+24delinsCCT)
1g.155294462delCA889657729PKLRc.965+23del (n.965+23del)
c.872+23del (n.872+23del)
c.1124+23del (n.1124+23del)
c.773+23del (n.773+23del)
 dbSNP
1g.155294461_155294462delCA889657725PKLRc.965+22_965+23del (n.965+22_965+23del)
c.872+22_872+23del (n.872+22_872+23del)
c.1124+22_1124+23del (n.1124+22_1124+23del)
c.773+22_773+23del (n.773+22_773+23del)
 dbSNP gnomAD v3 gnomAD v4
1g.155294460G>ACA2505250575PKLRc.965+22C>T (n.965+22C>T)
c.872+22C>T (n.872+22C>T)
c.1124+22C>T (n.1124+22C>T)
c.773+22C>T (n.773+22C>T)
1g.155294461G>CCA1200112165PKLRc.965+21C>G (n.965+21C>G)
c.872+21C>G (n.872+21C>G)
c.1124+21C>G (n.1124+21C>G)
c.773+21C>G (n.773+21C>G)
 dbSNP
1g.155294461G=CA1200112164PKLRc.965+21C= (n.965+21C=)
c.872+21C= (n.872+21C=)
c.1124+21C= (n.1124+21C=)
c.773+21C= (n.773+21C=)
1g.155294462G>ACA1200112167PKLRc.965+20C>T (n.965+20C>T)
c.872+20C>T (n.872+20C>T)
c.1124+20C>T (n.1124+20C>T)
c.773+20C>T (n.773+20C>T)
 dbSNP
1g.155294462G>CCA1200112168PKLRc.965+20C>G (n.965+20C>G)
c.872+20C>G (n.872+20C>G)
c.1124+20C>G (n.1124+20C>G)
c.773+20C>G (n.773+20C>G)
 dbSNP gnomAD v4
1g.155294462G=CA1200112166PKLRc.965+20C= (n.965+20C=)
c.872+20C= (n.872+20C=)
c.1124+20C= (n.1124+20C=)
c.773+20C= (n.773+20C=)
1g.155294462G>TCA2648269182PKLRc.965+20C>A (n.965+20C>A)
c.872+20C>A (n.872+20C>A)
c.1124+20C>A (n.1124+20C>A)
c.773+20C>A (n.773+20C>A)
 gnomAD v4
1g.155294464A=CA1200112169PKLRc.965+18T= (n.965+18T=)
c.872+18T= (n.872+18T=)
c.1124+18T= (n.1124+18T=)
c.773+18T= (n.773+18T=)
1g.155294464A>CCA1144162PKLRc.965+18T>G (n.965+18T>G)
c.872+18T>G (n.872+18T>G)
c.1124+18T>G (n.1124+18T>G)
c.773+18T>G (n.773+18T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294464A>GCA1144163PKLRc.965+18T>C (n.965+18T>C)
c.872+18T>C (n.872+18T>C)
c.1124+18T>C (n.1124+18T>C)
c.773+18T>C (n.773+18T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294465C>ACA1144164PKLRc.965+17G>T (n.965+17G>T)
c.872+17G>T (n.872+17G>T)
c.1124+17G>T (n.1124+17G>T)
c.773+17G>T (n.773+17G>T)
 dbSNP ExAC gnomAD v2
1g.155294465C=CA1200112170PKLRc.965+17G= (n.965+17G=)
c.872+17G= (n.872+17G=)
c.1124+17G= (n.1124+17G=)
c.773+17G= (n.773+17G=)
1g.155294465C>TCA2648269189PKLRc.965+17G>A (n.965+17G>A)
c.872+17G>A (n.872+17G>A)
c.1124+17G>A (n.1124+17G>A)
c.773+17G>A (n.773+17G>A)
 gnomAD v4
1g.155294467G>CCA1007986952PKLRc.965+15C>G (n.965+15C>G)
c.872+15C>G (n.872+15C>G)
c.1124+15C>G (n.1124+15C>G)
c.773+15C>G (n.773+15C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.155294467G=CA1200112171PKLRc.965+15C= (n.965+15C=)
c.872+15C= (n.872+15C=)
c.1124+15C= (n.1124+15C=)
c.773+15C= (n.773+15C=)
1g.155294468A=CA1200112172PKLRc.965+14T= (n.965+14T=)
c.872+14T= (n.872+14T=)
c.1124+14T= (n.1124+14T=)
c.773+14T= (n.773+14T=)
1g.155294468A>GCA889657733PKLRc.965+14T>C (n.965+14T>C)
c.872+14T>C (n.872+14T>C)
c.1124+14T>C (n.1124+14T>C)
c.773+14T>C (n.773+14T>C)
 dbSNP
1g.155294469G>ACA526668566PKLRc.965+13C>T (n.965+13C>T)
c.872+13C>T (n.872+13C>T)
c.1124+13C>T (n.1124+13C>T)
c.773+13C>T (n.773+13C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.155294469G=CA1200112173PKLRc.965+13C= (n.965+13C=)
c.872+13C= (n.872+13C=)
c.1124+13C= (n.1124+13C=)
c.773+13C= (n.773+13C=)
1g.155294470C=CA1143391596PKLRc.965+12G= (n.965+12G=)
c.872+12G= (n.872+12G=)
c.1124+12G= (n.1124+12G=)
c.773+12G= (n.773+12G=)
1g.155294470C>TCA1144165PKLRc.965+12G>A (n.965+12G>A)
c.872+12G>A (n.872+12G>A)
c.1124+12G>A (n.1124+12G>A)
c.773+12G>A (n.773+12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294471C>GCA2648269194PKLRc.965+11G>C (n.965+11G>C)
c.872+11G>C (n.872+11G>C)
c.1124+11G>C (n.1124+11G>C)
c.773+11G>C (n.773+11G>C)
 gnomAD v4
1g.155294471C>TCA2573568426PKLRc.965+11G>A (n.965+11G>A)
c.872+11G>A (n.872+11G>A)
c.1124+11G>A (n.1124+11G>A)
c.773+11G>A (n.773+11G>A)
 gnomAD v4
1g.155294473A>GCA2573918273PKLRc.965+9T>C (n.965+9T>C)
c.872+9T>C (n.872+9T>C)
c.1124+9T>C (n.1124+9T>C)
c.773+9T>C (n.773+9T>C)
1g.155294476C>ACA1144166PKLRc.965+6G>T (n.965+6G>T)
c.872+6G>T (n.872+6G>T)
c.1124+6G>T (n.1124+6G>T)
c.773+6G>T (n.773+6G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294476C=CA1200112174PKLRc.965+6G= (n.965+6G=)
c.872+6G= (n.872+6G=)
c.1124+6G= (n.1124+6G=)
c.773+6G= (n.773+6G=)
1g.155294476C>GCA889657757PKLRc.965+6G>C (n.965+6G>C)
c.872+6G>C (n.872+6G>C)
c.1124+6G>C (n.1124+6G>C)
c.773+6G>C (n.773+6G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.155294476C>TCA1200112175PKLRc.965+6G>A (n.965+6G>A)
c.872+6G>A (n.872+6G>A)
c.1124+6G>A (n.1124+6G>A)
c.773+6G>A (n.773+6G>A)
 dbSNP
1g.155294477C=CA1200112176PKLRc.965+5G= (n.965+5G=)
c.872+5G= (n.872+5G=)
c.1124+5G= (n.1124+5G=)
c.773+5G= (n.773+5G=)
1g.155294477C>TCA526668567PKLRc.965+5G>A (n.965+5G>A)
c.872+5G>A (n.872+5G>A)
c.1124+5G>A (n.1124+5G>A)
c.773+5G>A (n.773+5G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.155294478T>CCA1144167PKLRc.965+4A>G (n.965+4A>G)
c.872+4A>G (n.872+4A>G)
c.1124+4A>G (n.1124+4A>G)
c.773+4A>G (n.773+4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294478T=CA1200112177PKLRc.965+4A= (n.965+4A=)
c.872+4A= (n.872+4A=)
c.1124+4A= (n.1124+4A=)
c.773+4A= (n.773+4A=)
1g.155294479C=CA1200112178PKLRc.965+3G= (n.965+3G=)
c.872+3G= (n.872+3G=)
c.1124+3G= (n.1124+3G=)
c.773+3G= (n.773+3G=)
1g.155294479C>TCA1200112179PKLRc.965+3G>A (n.965+3G>A)
c.872+3G>A (n.872+3G>A)
c.1124+3G>A (n.1124+3G>A)
c.773+3G>A (n.773+3G>A)
 dbSNP gnomAD v4
1g.155294480A>CCA342753627PKLRc.965+2T>G (n.965+2T>G)
c.872+2T>G (n.872+2T>G)
c.1124+2T>G (n.1124+2T>G)
c.773+2T>G (n.773+2T>G)
1g.155294480A>GCA342753631PKLRc.965+2T>C (n.965+2T>C)
c.872+2T>C (n.872+2T>C)
c.1124+2T>C (n.1124+2T>C)
c.773+2T>C (n.773+2T>C)
 ClinVar gnomAD v4
1g.155294480A>TCA342753629PKLRc.965+2T>A (n.965+2T>A)
c.872+2T>A (n.872+2T>A)
c.1124+2T>A (n.1124+2T>A)
c.773+2T>A (n.773+2T>A)
1g.155294481C>ACA342753634PKLRc.965+1G>T (n.965+1G>T)
c.872+1G>T (n.872+1G>T)
c.1124+1G>T (n.1124+1G>T)
c.773+1G>T (n.773+1G>T)
1g.155294481C=CA1200112180PKLRc.965+1G= (n.965+1G=)
c.872+1G= (n.872+1G=)
c.1124+1G= (n.1124+1G=)
c.773+1G= (n.773+1G=)
1g.155294481C>GCA342753636PKLRc.965+1G>C (n.965+1G>C)
c.872+1G>C (n.872+1G>C)
c.1124+1G>C (n.1124+1G>C)
c.773+1G>C (n.773+1G>C)
1g.155294481C>TCA1144168PKLRc.965+1G>A (n.965+1G>A)
c.872+1G>A (n.872+1G>A)
c.1124+1G>A (n.1124+1G>A)
c.773+1G>A (n.773+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294482C>ACA342753640PKLRc.965G>T (p.Arg322Met)
c.872G>T (p.Arg291Met)
c.1124G>T (p.Arg375Met)
c.773G>T (p.Arg258Met)
 dbSNP gnomAD v2 gnomAD v4
1g.155294482C=CA1200112181PKLRc.965G= (p.Arg322=)
c.872G= (p.Arg291=)
c.1124G= (p.Arg375=)
c.773G= (p.Arg258=)
1g.155294482C>GCA342753642PKLRc.965G>C (p.Arg322Thr)
c.872G>C (p.Arg291Thr)
c.1124G>C (p.Arg375Thr)
c.773G>C (p.Arg258Thr)
1g.155294482C>TCA342753644PKLRc.965G>A (p.Arg322Lys)
c.872G>A (p.Arg291Lys)
c.1124G>A (p.Arg375Lys)
c.773G>A (p.Arg258Lys)
 COSMIC
1g.155294482_155294483delinsCTCA1200112182PKLRc.964_965delinsAG (p.Arg322=)
c.871_872delinsAG (p.Arg291=)
c.1123_1124delinsAG (p.Arg375=)
c.772_773delinsAG (p.Arg258=)
1g.155294483delCA1200112183PKLRc.964del (p.Arg322GlyfsTer8)
c.871del (p.Arg291GlyfsTer8)
c.1123del (p.Arg375GlyfsTer8)
c.772del (p.Arg258GlyfsTer8)
 dbSNP
1g.155294483T>ACA342753647PKLRc.964A>T (p.Arg322Trp)
c.871A>T (p.Arg291Trp)
c.1123A>T (p.Arg375Trp)
c.772A>T (p.Arg258Trp)
1g.155294483T>CCA342753649PKLRc.964A>G (p.Arg322Gly)
c.871A>G (p.Arg291Gly)
c.1123A>G (p.Arg375Gly)
c.772A>G (p.Arg258Gly)
1g.155294483T>GCA421245508PKLRc.964A>C (p.Arg322=)
c.871A>C (p.Arg291=)
c.1123A>C (p.Arg375=)
c.772A>C (p.Arg258=)
1g.155294484C>ACA342753650PKLRc.963G>T (p.Lys321Asn)
c.870G>T (p.Lys290Asn)
c.1122G>T (p.Lys374Asn)
c.771G>T (p.Lys257Asn)
1g.155294484C>GCA342753652PKLRc.963G>C (p.Lys321Asn)
c.870G>C (p.Lys290Asn)
c.1122G>C (p.Lys374Asn)
c.771G>C (p.Lys257Asn)
1g.155294484C>TCA421245509PKLRc.963G>A (p.Lys321=)
c.870G>A (p.Lys290=)
c.1122G>A (p.Lys374=)
c.771G>A (p.Lys257=)
1g.155294485T>ACA342753658PKLRc.962A>T (p.Lys321Met)
c.869A>T (p.Lys290Met)
c.1121A>T (p.Lys374Met)
c.770A>T (p.Lys257Met)
1g.155294485T>CCA342753656PKLRc.962A>G (p.Lys321Arg)
c.869A>G (p.Lys290Arg)
c.1121A>G (p.Lys374Arg)
c.770A>G (p.Lys257Arg)
1g.155294485T>GCA342753655PKLRc.962A>C (p.Lys321Thr)
c.869A>C (p.Lys290Thr)
c.1121A>C (p.Lys374Thr)
c.770A>C (p.Lys257Thr)
1g.155294486T>ACA342753661PKLRc.961A>T (p.Lys321Ter)
c.868A>T (p.Lys290Ter)
c.1120A>T (p.Lys374Ter)
c.769A>T (p.Lys257Ter)
1g.155294486T>CCA342753663PKLRc.961A>G (p.Lys321Glu)
c.868A>G (p.Lys290Glu)
c.1120A>G (p.Lys374Glu)
c.769A>G (p.Lys257Glu)
1g.155294486T>GCA342753665PKLRc.961A>C (p.Lys321Gln)
c.868A>C (p.Lys290Gln)
c.1120A>C (p.Lys374Gln)
c.769A>C (p.Lys257Gln)
1g.155294487C>ACA421245510PKLRc.960G>T (p.Val320=)
c.867G>T (p.Val289=)
c.1119G>T (p.Val373=)
c.768G>T (p.Val256=)
 gnomAD v4
1g.155294487C=CA1200112184PKLRc.960G= (p.Val320=)
c.867G= (p.Val289=)
c.1119G= (p.Val373=)
c.768G= (p.Val256=)
1g.155294487C>GCA421245512PKLRc.960G>C (p.Val320=)
c.867G>C (p.Val289=)
c.1119G>C (p.Val373=)
c.768G>C (p.Val256=)
1g.155294487C>TCA421245511PKLRc.960G>A (p.Val320=)
c.867G>A (p.Val289=)
c.1119G>A (p.Val373=)
c.768G>A (p.Val256=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294488A>CCA342753668PKLRc.959T>G (p.Val320Gly)
c.866T>G (p.Val289Gly)
c.1118T>G (p.Val373Gly)
c.767T>G (p.Val256Gly)
1g.155294488A>GCA342753669PKLRc.959T>C (p.Val320Ala)
c.866T>C (p.Val289Ala)
c.1118T>C (p.Val373Ala)
c.767T>C (p.Val256Ala)
 gnomAD v4
1g.155294488A>TCA342753671PKLRc.959T>A (p.Val320Glu)
c.866T>A (p.Val289Glu)
c.1118T>A (p.Val373Glu)
c.767T>A (p.Val256Glu)
1g.155294489C>ACA342753673PKLRc.958G>T (p.Val320Leu)
c.865G>T (p.Val289Leu)
c.1117G>T (p.Val373Leu)
c.766G>T (p.Val256Leu)
1g.155294489C=CA1145916229PKLRc.958G= (p.Val320=)
c.865G= (p.Val289=)
c.1117G= (p.Val373=)
c.766G= (p.Val256=)
1g.155294489C>GCA1144169PKLRc.958G>C (p.Val320Leu)
c.865G>C (p.Val289Leu)
c.1117G>C (p.Val373Leu)
c.766G>C (p.Val256Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294489C>TCA342753676PKLRc.958G>A (p.Val320Met)
c.865G>A (p.Val289Met)
c.1117G>A (p.Val373Met)
c.766G>A (p.Val256Met)
1g.155294490delCA2499214201PKLRc.957del (p.Val320Ter)
c.864del (p.Val289Ter)
c.1116del (p.Val373Ter)
c.765del (p.Val256Ter)
 ClinVar dbSNP
1g.155294490G>ACA421245513PKLRc.957C>T (p.Gly319=)
c.864C>T (p.Gly288=)
c.1116C>T (p.Gly372=)
c.765C>T (p.Gly255=)
 dbSNP gnomAD v4
1g.155294490G>CCA421245514PKLRc.957C>G (p.Gly319=)
c.864C>G (p.Gly288=)
c.1116C>G (p.Gly372=)
c.765C>G (p.Gly255=)
1g.155294490G=CA1200112185PKLRc.957C= (p.Gly319=)
c.864C= (p.Gly288=)
c.1116C= (p.Gly372=)
c.765C= (p.Gly255=)
1g.155294490G>TCA421245515PKLRc.957C>A (p.Gly319=)
c.864C>A (p.Gly288=)
c.1116C>A (p.Gly372=)
c.765C>A (p.Gly255=)
1g.155294491C>ACA342753678PKLRc.956G>T (p.Gly319Val)
c.863G>T (p.Gly288Val)
c.1115G>T (p.Gly372Val)
c.764G>T (p.Gly255Val)
1g.155294491C=CA1200112186PKLRc.956G= (p.Gly319=)
c.863G= (p.Gly288=)
c.1115G= (p.Gly372=)
c.764G= (p.Gly255=)
1g.155294491C>GCA342753679PKLRc.956G>C (p.Gly319Ala)
c.863G>C (p.Gly288Ala)
c.1115G>C (p.Gly372Ala)
c.764G>C (p.Gly255Ala)
1g.155294491C>TCA1144170PKLRc.956G>A (p.Gly319Asp)
c.863G>A (p.Gly288Asp)
c.1115G>A (p.Gly372Asp)
c.764G>A (p.Gly255Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294492C>ACA342753685PKLRc.955G>T (p.Gly319Cys)
c.862G>T (p.Gly288Cys)
c.1114G>T (p.Gly372Cys)
c.763G>T (p.Gly255Cys)
1g.155294492C=CA1200112187PKLRc.955G= (p.Gly319=)
c.862G= (p.Gly288=)
c.1114G= (p.Gly372=)
c.763G= (p.Gly255=)
1g.155294492C>GCA342753686PKLRc.955G>C (p.Gly319Arg)
c.862G>C (p.Gly288Arg)
c.1114G>C (p.Gly372Arg)
c.763G>C (p.Gly255Arg)
1g.155294492C>TCA342753683PKLRc.955G>A (p.Gly319Ser)
c.862G>A (p.Gly288Ser)
c.1114G>A (p.Gly372Ser)
c.763G>A (p.Gly255Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294493_155294495delCA2586967534PKLRc.953_955del (p.Glu318del)
c.860_862del (p.Glu287del)
c.1112_1114del (p.Glu371del)
c.761_763del (p.Glu254del)
 gnomAD v4
1g.155294493T>ACA342753688PKLRc.954A>T (p.Glu318Asp)
c.861A>T (p.Glu287Asp)
c.1113A>T (p.Glu371Asp)
c.762A>T (p.Glu254Asp)
1g.155294493T>CCA421245516PKLRc.954A>G (p.Glu318=)
c.861A>G (p.Glu287=)
c.1113A>G (p.Glu371=)
c.762A>G (p.Glu254=)
1g.155294493T>GCA342753690PKLRc.954A>C (p.Glu318Asp)
c.861A>C (p.Glu287Asp)
c.1113A>C (p.Glu371Asp)
c.762A>C (p.Glu254Asp)
1g.155294494T>ACA342753692PKLRc.953A>T (p.Glu318Val)
c.860A>T (p.Glu287Val)
c.1112A>T (p.Glu371Val)
c.761A>T (p.Glu254Val)
1g.155294494T>CCA1144171PKLRc.953A>G (p.Glu318Gly)
c.860A>G (p.Glu287Gly)
c.1112A>G (p.Glu371Gly)
c.761A>G (p.Glu254Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294494T>GCA342753695PKLRc.953A>C (p.Glu318Ala)
c.860A>C (p.Glu287Ala)
c.1112A>C (p.Glu371Ala)
c.761A>C (p.Glu254Ala)
1g.155294494T=CA1200112188PKLRc.953A= (p.Glu318=)
c.860A= (p.Glu287=)
c.1112A= (p.Glu371=)
c.761A= (p.Glu254=)
1g.155294495C>ACA342753701PKLRc.952G>T (p.Glu318Ter)
c.859G>T (p.Glu287Ter)
c.1111G>T (p.Glu371Ter)
c.760G>T (p.Glu254Ter)
1g.155294495C>GCA342753697PKLRc.952G>C (p.Glu318Gln)
c.859G>C (p.Glu287Gln)
c.1111G>C (p.Glu371Gln)
c.760G>C (p.Glu254Gln)
 gnomAD v4
1g.155294495C>TCA342753699PKLRc.952G>A (p.Glu318Lys)
c.859G>A (p.Glu287Lys)
c.1111G>A (p.Glu371Lys)
c.760G>A (p.Glu254Lys)
 gnomAD v4 COSMIC
1g.155294496G>ACA1144172PKLRc.951C>T (p.His317=)
c.858C>T (p.His286=)
c.1110C>T (p.His370=)
c.759C>T (p.His253=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294496G>CCA342753703PKLRc.951C>G (p.His317Gln)
c.858C>G (p.His286Gln)
c.1110C>G (p.His370Gln)
c.759C>G (p.His253Gln)
 dbSNP gnomAD v4 COSMIC
1g.155294496G=CA1148252806PKLRc.951C= (p.His317=)
c.858C= (p.His286=)
c.1110C= (p.His370=)
c.759C= (p.His253=)
1g.155294496G>TCA30903179PKLRc.951C>A (p.His317Gln)
c.858C>A (p.His286Gln)
c.1110C>A (p.His370Gln)
c.759C>A (p.His253Gln)
 dbSNP
1g.155294497T>ACA342753708PKLRc.950A>T (p.His317Leu)
c.857A>T (p.His286Leu)
c.1109A>T (p.His370Leu)
c.758A>T (p.His253Leu)
1g.155294497T>CCA342753710PKLRc.950A>G (p.His317Arg)
c.857A>G (p.His286Arg)
c.1109A>G (p.His370Arg)
c.758A>G (p.His253Arg)
1g.155294497T>GCA342753712PKLRc.950A>C (p.His317Pro)
c.857A>C (p.His286Pro)
c.1109A>C (p.His370Pro)
c.758A>C (p.His253Pro)
 gnomAD v4
1g.155294498G>ACA342753717PKLRc.949C>T (p.His317Tyr)
c.856C>T (p.His286Tyr)
c.1108C>T (p.His370Tyr)
c.757C>T (p.His253Tyr)
1g.155294498G>CCA342753719PKLRc.949C>G (p.His317Asp)
c.856C>G (p.His286Asp)
c.1108C>G (p.His370Asp)
c.757C>G (p.His253Asp)
1g.155294498G>TCA342753715PKLRc.949C>A (p.His317Asn)
c.856C>A (p.His286Asn)
c.1108C>A (p.His370Asn)
c.757C>A (p.His253Asn)
1g.155294499G>ACA421245517PKLRc.948C>T (p.Asn316=)
c.855C>T (p.Asn285=)
c.1107C>T (p.Asn369=)
c.756C>T (p.Asn252=)
1g.155294499G>CCA342753724PKLRc.948C>G (p.Asn316Lys)
c.855C>G (p.Asn285Lys)
c.1107C>G (p.Asn369Lys)
c.756C>G (p.Asn252Lys)
1g.155294499G>TCA342753722PKLRc.948C>A (p.Asn316Lys)
c.855C>A (p.Asn285Lys)
c.1107C>A (p.Asn369Lys)
c.756C>A (p.Asn252Lys)
1g.155294500T>ACA342753728PKLRc.947A>T (p.Asn316Ile)
c.854A>T (p.Asn285Ile)
c.1106A>T (p.Asn369Ile)
c.755A>T (p.Asn252Ile)
1g.155294500T>CCA342753726PKLRc.947A>G (p.Asn316Ser)
c.854A>G (p.Asn285Ser)
c.1106A>G (p.Asn369Ser)
c.755A>G (p.Asn252Ser)
 gnomAD v4
1g.155294500T>GCA342753730PKLRc.947A>C (p.Asn316Thr)
c.854A>C (p.Asn285Thr)
c.1106A>C (p.Asn369Thr)
c.755A>C (p.Asn252Thr)
1g.155294501T>ACA342753733PKLRc.946A>T (p.Asn316Tyr)
c.853A>T (p.Asn285Tyr)
c.1105A>T (p.Asn369Tyr)
c.754A>T (p.Asn252Tyr)
1g.155294501T>CCA342753737PKLRc.946A>G (p.Asn316Asp)
c.853A>G (p.Asn285Asp)
c.1105A>G (p.Asn369Asp)
c.754A>G (p.Asn252Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.155294501T>GCA342753735PKLRc.946A>C (p.Asn316His)
c.853A>C (p.Asn285His)
c.1105A>C (p.Asn369His)
c.754A>C (p.Asn252His)
1g.155294501T=CA1200112189PKLRc.946A= (p.Asn316=)
c.853A= (p.Asn285=)
c.1105A= (p.Asn369=)
c.754A= (p.Asn252=)
1g.155294502C>ACA342753739PKLRc.945G>T (p.Glu315Asp)
c.852G>T (p.Glu284Asp)
c.1104G>T (p.Glu368Asp)
c.753G>T (p.Glu251Asp)
1g.155294502C>GCA342753741PKLRc.945G>C (p.Glu315Asp)
c.852G>C (p.Glu284Asp)
c.1104G>C (p.Glu368Asp)
c.753G>C (p.Glu251Asp)
 ClinVar dbSNP
1g.155294502C>TCA421245518PKLRc.945G>A (p.Glu315=)
c.852G>A (p.Glu284=)
c.1104G>A (p.Glu368=)
c.753G>A (p.Glu251=)
 gnomAD v4
1g.155294503T>ACA342753743PKLRc.944A>T (p.Glu315Val)
c.851A>T (p.Glu284Val)
c.1103A>T (p.Glu368Val)
c.752A>T (p.Glu251Val)
1g.155294503T>CCA342753746PKLRc.944A>G (p.Glu315Gly)
c.851A>G (p.Glu284Gly)
c.1103A>G (p.Glu368Gly)
c.752A>G (p.Glu251Gly)
1g.155294503T>GCA342753748PKLRc.944A>C (p.Glu315Ala)
c.851A>C (p.Glu284Ala)
c.1103A>C (p.Glu368Ala)
c.752A>C (p.Glu251Ala)
1g.155294504C>ACA342753750PKLRc.943G>T (p.Glu315Ter)
c.850G>T (p.Glu284Ter)
c.1102G>T (p.Glu368Ter)
c.751G>T (p.Glu251Ter)
1g.155294504C=CA1200112190PKLRc.943G= (p.Glu315=)
c.850G= (p.Glu284=)
c.1102G= (p.Glu368=)
c.751G= (p.Glu251=)
1g.155294504C>GCA342753752PKLRc.943G>C (p.Glu315Gln)
c.850G>C (p.Glu284Gln)
c.1102G>C (p.Glu368Gln)
c.751G>C (p.Glu251Gln)
1g.155294504C>TCA342753754PKLRc.943G>A (p.Glu315Lys)
c.850G>A (p.Glu284Lys)
c.1102G>A (p.Glu368Lys)
c.751G>A (p.Glu251Lys)
 ClinVar dbSNP gnomAD v4
1g.155294505A=CA1200112191PKLRc.942T= (p.Ile314=)
c.849T= (p.Ile283=)
c.1101T= (p.Ile367=)
c.750T= (p.Ile250=)
1g.155294505A>CCA342753756PKLRc.942T>G (p.Ile314Met)
c.849T>G (p.Ile283Met)
c.1101T>G (p.Ile367Met)
c.750T>G (p.Ile250Met)
1g.155294505A>GCA421245519PKLRc.942T>C (p.Ile314=)
c.849T>C (p.Ile283=)
c.1101T>C (p.Ile367=)
c.750T>C (p.Ile250=)
 gnomAD v4
1g.155294505A>TCA30903186PKLRc.942T>A (p.Ile314=)
c.849T>A (p.Ile283=)
c.1101T>A (p.Ile367=)
c.750T>A (p.Ile250=)
 dbSNP
1g.155294506A=CA1200112192PKLRc.941T= (p.Ile314=)
c.848T= (p.Ile283=)
c.1100T= (p.Ile367=)
c.749T= (p.Ile250=)
1g.155294506A>CCA342753759PKLRc.941T>G (p.Ile314Ser)
c.848T>G (p.Ile283Ser)
c.1100T>G (p.Ile367Ser)
c.749T>G (p.Ile250Ser)
1g.155294506A>GCA30903193PKLRc.941T>C (p.Ile314Thr)
c.848T>C (p.Ile283Thr)
c.1100T>C (p.Ile367Thr)
c.749T>C (p.Ile250Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294506A>TCA342753764PKLRc.941T>A (p.Ile314Asn)
c.848T>A (p.Ile283Asn)
c.1100T>A (p.Ile367Asn)
c.749T>A (p.Ile250Asn)
1g.155294507T>ACA342753766PKLRc.940A>T (p.Ile314Phe)
c.847A>T (p.Ile283Phe)
c.1099A>T (p.Ile367Phe)
c.748A>T (p.Ile250Phe)
1g.155294507T>CCA342753768PKLRc.940A>G (p.Ile314Val)
c.847A>G (p.Ile283Val)
c.1099A>G (p.Ile367Val)
c.748A>G (p.Ile250Val)
1g.155294507T>GCA342753770PKLRc.940A>C (p.Ile314Leu)
c.847A>C (p.Ile283Leu)
c.1099A>C (p.Ile367Leu)
c.748A>C (p.Ile250Leu)
1g.155294508T>ACA342753773PKLRc.939A>T (p.Lys313Asn)
c.846A>T (p.Lys282Asn)
c.1098A>T (p.Lys366Asn)
c.747A>T (p.Lys249Asn)
1g.155294508T>CCA1144173PKLRc.939A>G (p.Lys313=)
c.846A>G (p.Lys282=)
c.1098A>G (p.Lys366=)
c.747A>G (p.Lys249=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294508T>GCA342753774PKLRc.939A>C (p.Lys313Asn)
c.846A>C (p.Lys282Asn)
c.1098A>C (p.Lys366Asn)
c.747A>C (p.Lys249Asn)
1g.155294508T=CA1200112193PKLRc.939A= (p.Lys313=)
c.846A= (p.Lys282=)
c.1098A= (p.Lys366=)
c.747A= (p.Lys249=)
1g.155294509T>ACA342753780PKLRc.938A>T (p.Lys313Ile)
c.845A>T (p.Lys282Ile)
c.1097A>T (p.Lys366Ile)
c.746A>T (p.Lys249Ile)
1g.155294509T>CCA342753782PKLRc.938A>G (p.Lys313Arg)
c.845A>G (p.Lys282Arg)
c.1097A>G (p.Lys366Arg)
c.746A>G (p.Lys249Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.155294509T>GCA342753784PKLRc.938A>C (p.Lys313Thr)
c.845A>C (p.Lys282Thr)
c.1097A>C (p.Lys366Thr)
c.746A>C (p.Lys249Thr)
1g.155294509T=CA1200112194PKLRc.938A= (p.Lys313=)
c.845A= (p.Lys282=)
c.1097A= (p.Lys366=)
c.746A= (p.Lys249=)
1g.155294510T>ACA342753787PKLRc.937A>T (p.Lys313Ter)
c.844A>T (p.Lys282Ter)
c.1096A>T (p.Lys366Ter)
c.745A>T (p.Lys249Ter)
1g.155294510T>CCA342753789PKLRc.937A>G (p.Lys313Glu)
c.844A>G (p.Lys282Glu)
c.1096A>G (p.Lys366Glu)
c.745A>G (p.Lys249Glu)
1g.155294510T>GCA1144174PKLRc.937A>C (p.Lys313Gln)
c.844A>C (p.Lys282Gln)
c.1096A>C (p.Lys366Gln)
c.745A>C (p.Lys249Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294510T=CA1200112195PKLRc.937A= (p.Lys313=)
c.844A= (p.Lys282=)
c.1096A= (p.Lys366=)
c.745A= (p.Lys249=)
1g.155294511G>ACA421245520PKLRc.936C>T (p.Ser312=)
c.843C>T (p.Ser281=)
c.1095C>T (p.Ser365=)
c.744C>T (p.Ser248=)
1g.155294511G>CCA342753791PKLRc.936C>G (p.Ser312Arg)
c.843C>G (p.Ser281Arg)
c.1095C>G (p.Ser365Arg)
c.744C>G (p.Ser248Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294511G=CA1200112196PKLRc.936C= (p.Ser312=)
c.843C= (p.Ser281=)
c.1095C= (p.Ser365=)
c.744C= (p.Ser248=)
1g.155294511G>TCA342753793PKLRc.936C>A (p.Ser312Arg)
c.843C>A (p.Ser281Arg)
c.1095C>A (p.Ser365Arg)
c.744C>A (p.Ser248Arg)
1g.155294512C>ACA342753795PKLRc.935G>T (p.Ser312Ile)
c.842G>T (p.Ser281Ile)
c.1094G>T (p.Ser365Ile)
c.743G>T (p.Ser248Ile)
1g.155294512C>GCA342753797PKLRc.935G>C (p.Ser312Thr)
c.842G>C (p.Ser281Thr)
c.1094G>C (p.Ser365Thr)
c.743G>C (p.Ser248Thr)
1g.155294512C>TCA342753799PKLRc.935G>A (p.Ser312Asn)
c.842G>A (p.Ser281Asn)
c.1094G>A (p.Ser365Asn)
c.743G>A (p.Ser248Asn)
 gnomAD v4
1g.155294513T>ACA342753805PKLRc.934A>T (p.Ser312Cys)
c.841A>T (p.Ser281Cys)
c.1093A>T (p.Ser365Cys)
c.742A>T (p.Ser248Cys)
1g.155294513T>CCA342753803PKLRc.934A>G (p.Ser312Gly)
c.841A>G (p.Ser281Gly)
c.1093A>G (p.Ser365Gly)
c.742A>G (p.Ser248Gly)
 dbSNP
1g.155294513T>GCA342753801PKLRc.934A>C (p.Ser312Arg)
c.841A>C (p.Ser281Arg)
c.1093A>C (p.Ser365Arg)
c.742A>C (p.Ser248Arg)
1g.155294513T=CA1200112197PKLRc.934A= (p.Ser312=)
c.841A= (p.Ser281=)
c.1093A= (p.Ser365=)
c.742A= (p.Ser248=)
1g.155294517_155294519delCA2648269277PKLRc.932_934del (p.Ile311del)
c.839_841del (p.Ile280del)
c.1091_1093del (p.Ile364del)
c.740_742del (p.Ile247del)
 gnomAD v4
1g.155294514G>ACA421245521PKLRc.933C>T (p.Ile311=)
c.840C>T (p.Ile280=)
c.1092C>T (p.Ile364=)
c.741C>T (p.Ile247=)
 gnomAD v4
1g.155294514G>CCA342753806PKLRc.933C>G (p.Ile311Met)
c.840C>G (p.Ile280Met)
c.1092C>G (p.Ile364Met)
c.741C>G (p.Ile247Met)
1g.155294514G=CA1200112198PKLRc.933C= (p.Ile311=)
c.840C= (p.Ile280=)
c.1092C= (p.Ile364=)
c.741C= (p.Ile247=)
1g.155294514G>TCA421245522PKLRc.933C>A (p.Ile311=)
c.840C>A (p.Ile280=)
c.1092C>A (p.Ile364=)
c.741C>A (p.Ile247=)
 dbSNP
1g.155294515A>CCA342753808PKLRc.932T>G (p.Ile311Ser)
c.839T>G (p.Ile280Ser)
c.1091T>G (p.Ile364Ser)
c.740T>G (p.Ile247Ser)
1g.155294515A>GCA342753810PKLRc.932T>C (p.Ile311Thr)
c.839T>C (p.Ile280Thr)
c.1091T>C (p.Ile364Thr)
c.740T>C (p.Ile247Thr)
 gnomAD v4
1g.155294515A>TCA342753812PKLRc.932T>A (p.Ile311Asn)
c.839T>A (p.Ile280Asn)
c.1091T>A (p.Ile364Asn)
c.740T>A (p.Ile247Asn)
1g.155294516T>ACA342753815PKLRc.931A>T (p.Ile311Phe)
c.838A>T (p.Ile280Phe)
c.1090A>T (p.Ile364Phe)
c.739A>T (p.Ile247Phe)
1g.155294516T>CCA342753817PKLRc.931A>G (p.Ile311Val)
c.838A>G (p.Ile280Val)
c.1090A>G (p.Ile364Val)
c.739A>G (p.Ile247Val)
1g.155294516T>GCA342753818PKLRc.931A>C (p.Ile311Leu)
c.838A>C (p.Ile280Leu)
c.1090A>C (p.Ile364Leu)
c.739A>C (p.Ile247Leu)
1g.155294517G>ACA421245523PKLRc.930C>T (p.Ile310=)
c.837C>T (p.Ile279=)
c.1089C>T (p.Ile363=)
c.738C>T (p.Ile246=)
 dbSNP gnomAD v3 gnomAD v4
1g.155294517G>CCA342753820PKLRc.930C>G (p.Ile310Met)
c.837C>G (p.Ile279Met)
c.1089C>G (p.Ile363Met)
c.738C>G (p.Ile246Met)
 dbSNP gnomAD v3 gnomAD v4
1g.155294517G=CA1200112199PKLRc.930C= (p.Ile310=)
c.837C= (p.Ile279=)
c.1089C= (p.Ile363=)
c.738C= (p.Ile246=)
1g.155294517G>TCA421245524PKLRc.930C>A (p.Ile310=)
c.837C>A (p.Ile279=)
c.1089C>A (p.Ile363=)
c.738C>A (p.Ile246=)
1g.155294518A>CCA342753822PKLRc.929T>G (p.Ile310Ser)
c.836T>G (p.Ile279Ser)
c.1088T>G (p.Ile363Ser)
c.737T>G (p.Ile246Ser)
1g.155294518A>GCA342753824PKLRc.929T>C (p.Ile310Thr)
c.836T>C (p.Ile279Thr)
c.1088T>C (p.Ile363Thr)
c.737T>C (p.Ile246Thr)
1g.155294518A>TCA342753826PKLRc.929T>A (p.Ile310Asn)
c.836T>A (p.Ile279Asn)
c.1088T>A (p.Ile363Asn)
c.737T>A (p.Ile246Asn)
1g.155294519T>ACA342753828PKLRc.928A>T (p.Ile310Phe)
c.835A>T (p.Ile279Phe)
c.1087A>T (p.Ile363Phe)
c.736A>T (p.Ile246Phe)
1g.155294519T>CCA342753830PKLRc.928A>G (p.Ile310Val)
c.835A>G (p.Ile279Val)
c.1087A>G (p.Ile363Val)
c.736A>G (p.Ile246Val)
1g.155294519T>GCA342753832PKLRc.928A>C (p.Ile310Leu)
c.835A>C (p.Ile279Leu)
c.1087A>C (p.Ile363Leu)
c.736A>C (p.Ile246Leu)
1g.155294520C>ACA342753837PKLRc.927G>T (p.Lys309Asn)
c.834G>T (p.Lys278Asn)
c.1086G>T (p.Lys362Asn)
c.735G>T (p.Lys245Asn)
1g.155294520C>GCA342753834PKLRc.927G>C (p.Lys309Asn)
c.834G>C (p.Lys278Asn)
c.1086G>C (p.Lys362Asn)
c.735G>C (p.Lys245Asn)
1g.155294520C>TCA421245525PKLRc.927G>A (p.Lys309=)
c.834G>A (p.Lys278=)
c.1086G>A (p.Lys362=)
c.735G>A (p.Lys245=)
 gnomAD v4
1g.155294521T>ACA342753841PKLRc.926A>T (p.Lys309Met)
c.833A>T (p.Lys278Met)
c.1085A>T (p.Lys362Met)
c.734A>T (p.Lys245Met)
1g.155294521T>CCA342753842PKLRc.926A>G (p.Lys309Arg)
c.833A>G (p.Lys278Arg)
c.1085A>G (p.Lys362Arg)
c.734A>G (p.Lys245Arg)
1g.155294521T>GCA342753844PKLRc.926A>C (p.Lys309Thr)
c.833A>C (p.Lys278Thr)
c.1085A>C (p.Lys362Thr)
c.734A>C (p.Lys245Thr)
1g.155294522T>ACA342753846PKLRc.925A>T (p.Lys309Ter)
c.832A>T (p.Lys278Ter)
c.1084A>T (p.Lys362Ter)
c.733A>T (p.Lys245Ter)
1g.155294522T>CCA342753848PKLRc.925A>G (p.Lys309Glu)
c.832A>G (p.Lys278Glu)
c.1084A>G (p.Lys362Glu)
c.733A>G (p.Lys245Glu)
1g.155294522T>GCA342753849PKLRc.925A>C (p.Lys309Gln)
c.832A>C (p.Lys278Gln)
c.1084A>C (p.Lys362Gln)
c.733A>C (p.Lys245Gln)
 gnomAD v4
1g.155294523G>ACA421245526PKLRc.924C>T (p.Ile308=)
c.831C>T (p.Ile277=)
c.1083C>T (p.Ile361=)
c.732C>T (p.Ile244=)
1g.155294523G>CCA342753852PKLRc.924C>G (p.Ile308Met)
c.831C>G (p.Ile277Met)
c.1083C>G (p.Ile361Met)
c.732C>G (p.Ile244Met)
1g.155294523G>TCA421245527PKLRc.924C>A (p.Ile308=)
c.831C>A (p.Ile277=)
c.1083C>A (p.Ile361=)
c.732C>A (p.Ile244=)
1g.155294524A>CCA342753854PKLRc.923T>G (p.Ile308Ser)
c.830T>G (p.Ile277Ser)
c.1082T>G (p.Ile361Ser)
c.731T>G (p.Ile244Ser)
1g.155294524A>GCA342753856PKLRc.923T>C (p.Ile308Thr)
c.830T>C (p.Ile277Thr)
c.1082T>C (p.Ile361Thr)
c.731T>C (p.Ile244Thr)
1g.155294524A>TCA342753858PKLRc.923T>A (p.Ile308Asn)
c.830T>A (p.Ile277Asn)
c.1082T>A (p.Ile361Asn)
c.731T>A (p.Ile244Asn)
 gnomAD v4
1g.155294525T>ACA342753860PKLRc.922A>T (p.Ile308Phe)
c.829A>T (p.Ile277Phe)
c.1081A>T (p.Ile361Phe)
c.730A>T (p.Ile244Phe)
1g.155294525T>CCA342753861PKLRc.922A>G (p.Ile308Val)
c.829A>G (p.Ile277Val)
c.1081A>G (p.Ile361Val)
c.730A>G (p.Ile244Val)
1g.155294525T>GCA342753864PKLRc.922A>C (p.Ile308Leu)
c.829A>C (p.Ile277Leu)
c.1081A>C (p.Ile361Leu)
c.730A>C (p.Ile244Leu)
1g.155294526G>ACA421245528PKLRc.921C>T (p.Gly307=)
c.828C>T (p.Gly276=)
c.1080C>T (p.Gly360=)
c.729C>T (p.Gly243=)
 gnomAD v4
1g.155294526G>CCA421245529PKLRc.921C>G (p.Gly307=)
c.828C>G (p.Gly276=)
c.1080C>G (p.Gly360=)
c.729C>G (p.Gly243=)
1g.155294526G>TCA421245530PKLRc.921C>A (p.Gly307=)
c.828C>A (p.Gly276=)
c.1080C>A (p.Gly360=)
c.729C>A (p.Gly243=)
1g.155294527C>ACA1144175PKLRc.920G>T (p.Gly307Val)
c.827G>T (p.Gly276Val)
c.1079G>T (p.Gly360Val)
c.728G>T (p.Gly243Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294527C=CA1200112200PKLRc.920G= (p.Gly307=)
c.827G= (p.Gly276=)
c.1079G= (p.Gly360=)
c.728G= (p.Gly243=)
1g.155294527C>GCA342753870PKLRc.920G>C (p.Gly307Ala)
c.827G>C (p.Gly276Ala)
c.1079G>C (p.Gly360Ala)
c.728G>C (p.Gly243Ala)
1g.155294527C>TCA342753866PKLRc.920G>A (p.Gly307Asp)
c.827G>A (p.Gly276Asp)
c.1079G>A (p.Gly360Asp)
c.728G>A (p.Gly243Asp)
1g.155294528C>ACA342753873PKLRc.919G>T (p.Gly307Cys)
c.826G>T (p.Gly276Cys)
c.1078G>T (p.Gly360Cys)
c.727G>T (p.Gly243Cys)
1g.155294528C=CA1143965198PKLRc.919G= (p.Gly307=)
c.826G= (p.Gly276=)
c.1078G= (p.Gly360=)
c.727G= (p.Gly243=)
1g.155294528C>GCA1144177PKLRc.919G>C (p.Gly307Arg)
c.826G>C (p.Gly276Arg)
c.1078G>C (p.Gly360Arg)
c.727G>C (p.Gly243Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294528C>TCA1144176PKLRc.919G>A (p.Gly307Ser)
c.826G>A (p.Gly276Ser)
c.1078G>A (p.Gly360Ser)
c.727G>A (p.Gly243Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294529G>ACA1144179PKLRc.918C>T (p.His306=)
c.825C>T (p.His275=)
c.1077C>T (p.His359=)
c.726C>T (p.His242=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155294529G>CCA342753878PKLRc.918C>G (p.His306Gln)
c.825C>G (p.His275Gln)
c.1077C>G (p.His359Gln)
c.726C>G (p.His242Gln)
 gnomAD v4
1g.155294529G=CA1141813668PKLRc.918C= (p.His306=)
c.825C= (p.His275=)
c.1077C= (p.His359=)
c.726C= (p.His242=)
1g.155294529G>TCA1144178PKLRc.918C>A (p.His306Gln)
c.825C>A (p.His275Gln)
c.1077C>A (p.His359Gln)
c.726C>A (p.His242Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294530T>ACA342753882PKLRc.917A>T (p.His306Leu)
c.824A>T (p.His275Leu)
c.1076A>T (p.His359Leu)
c.725A>T (p.His242Leu)
1g.155294530T>CCA342753883PKLRc.917A>G (p.His306Arg)
c.824A>G (p.His275Arg)
c.1076A>G (p.His359Arg)
c.725A>G (p.His242Arg)
 dbSNP
1g.155294530T>GCA342753885PKLRc.917A>C (p.His306Pro)
c.824A>C (p.His275Pro)
c.1076A>C (p.His359Pro)
c.725A>C (p.His242Pro)
1g.155294530T=CA1200112201PKLRc.917A= (p.His306=)
c.824A= (p.His275=)
c.1076A= (p.His359=)
c.725A= (p.His242=)
1g.155294531G>ACA342753888PKLRc.916C>T (p.His306Tyr)
c.823C>T (p.His275Tyr)
c.1075C>T (p.His359Tyr)
c.724C>T (p.His242Tyr)
1g.155294531G>CCA342753889PKLRc.916C>G (p.His306Asp)
c.823C>G (p.His275Asp)
c.1075C>G (p.His359Asp)
c.724C>G (p.His242Asp)
1g.155294531G>TCA342753891PKLRc.916C>A (p.His306Asn)
c.823C>A (p.His275Asn)
c.1075C>A (p.His359Asn)
c.724C>A (p.His242Asn)
1g.155294532_155294539delCA2586967535PKLRc.909_916del (p.Glu304ArgfsTer9)
c.816_823del (p.Glu273ArgfsTer9)
c.1068_1075del (p.Glu357ArgfsTer9)
c.717_724del (p.Glu240ArgfsTer9)
1g.155294532T>ACA421245531PKLRc.915A>T (p.Gly305=)
c.822A>T (p.Gly274=)
c.1074A>T (p.Gly358=)
c.723A>T (p.Gly241=)
 gnomAD v4
1g.155294532T>CCA421245532PKLRc.915A>G (p.Gly305=)
c.822A>G (p.Gly274=)
c.1074A>G (p.Gly358=)
c.723A>G (p.Gly241=)
1g.155294532T>GCA421245533PKLRc.915A>C (p.Gly305=)
c.822A>C (p.Gly274=)
c.1074A>C (p.Gly358=)
c.723A>C (p.Gly241=)
1g.155294533C>ACA342753894PKLRc.914G>T (p.Gly305Val)
c.821G>T (p.Gly274Val)
c.1073G>T (p.Gly358Val)
c.722G>T (p.Gly241Val)
1g.155294533C>GCA342753895PKLRc.914G>C (p.Gly305Ala)
c.821G>C (p.Gly274Ala)
c.1073G>C (p.Gly358Ala)
c.722G>C (p.Gly241Ala)
 dbSNP
1g.155294533C>TCA342753897PKLRc.914G>A (p.Gly305Glu)
c.821G>A (p.Gly274Glu)
c.1073G>A (p.Gly358Glu)
c.722G>A (p.Gly241Glu)
 ClinVar dbSNP COSMIC
1g.155294534_155294558delCA2648269318PKLRc.890_914del (p.Val297AspfsTer16)
c.797_821del (p.Val266AspfsTer16)
c.1049_1073del (p.Val350AspfsTer16)
c.698_722del (p.Val233AspfsTer16)
 gnomAD v4
1g.155294534C>ACA342753900PKLRc.913G>T (p.Gly305Ter)
c.820G>T (p.Gly274Ter)
c.1072G>T (p.Gly358Ter)
c.721G>T (p.Gly241Ter)
1g.155294534C>GCA342753904PKLRc.913G>C (p.Gly305Arg)
c.820G>C (p.Gly274Arg)
c.1072G>C (p.Gly358Arg)
c.721G>C (p.Gly241Arg)
1g.155294534C>TCA342753902PKLRc.913G>A (p.Gly305Arg)
c.820G>A (p.Gly274Arg)
c.1072G>A (p.Gly358Arg)
c.721G>A (p.Gly241Arg)
 dbSNP
1g.155294535T>ACA342753906PKLRc.912A>T (p.Glu304Asp)
c.819A>T (p.Glu273Asp)
c.1071A>T (p.Glu357Asp)
c.720A>T (p.Glu240Asp)
1g.155294535T>CCA421245534PKLRc.912A>G (p.Glu304=)
c.819A>G (p.Glu273=)
c.1071A>G (p.Glu357=)
c.720A>G (p.Glu240=)
1g.155294535T>GCA342753908PKLRc.912A>C (p.Glu304Asp)
c.819A>C (p.Glu273Asp)
c.1071A>C (p.Glu357Asp)
c.720A>C (p.Glu240Asp)
 COSMIC
1g.155294536T>ACA342753911PKLRc.911A>T (p.Glu304Val)
c.818A>T (p.Glu273Val)
c.1070A>T (p.Glu357Val)
c.719A>T (p.Glu240Val)
1g.155294536T>CCA342753913PKLRc.911A>G (p.Glu304Gly)
c.818A>G (p.Glu273Gly)
c.1070A>G (p.Glu357Gly)
c.719A>G (p.Glu240Gly)
1g.155294536T>GCA342753914PKLRc.911A>C (p.Glu304Ala)
c.818A>C (p.Glu273Ala)
c.1070A>C (p.Glu357Ala)
c.719A>C (p.Glu240Ala)
1g.155294537C>ACA342753917PKLRc.910G>T (p.Glu304Ter)
c.817G>T (p.Glu273Ter)
c.1069G>T (p.Glu357Ter)
c.718G>T (p.Glu240Ter)
1g.155294537C>GCA342753919PKLRc.910G>C (p.Glu304Gln)
c.817G>C (p.Glu273Gln)
c.1069G>C (p.Glu357Gln)
c.718G>C (p.Glu240Gln)
1g.155294537C>TCA342753920PKLRc.910G>A (p.Glu304Lys)
c.817G>A (p.Glu273Lys)
c.1069G>A (p.Glu357Lys)
c.718G>A (p.Glu240Lys)
1g.155294538C>ACA421245538PKLRc.909G>T (p.Pro303=)
c.816G>T (p.Pro272=)
c.1068G>T (p.Pro356=)
c.717G>T (p.Pro239=)
1g.155294538C=CA1143443726PKLRc.909G= (p.Pro303=)
c.816G= (p.Pro272=)
c.1068G= (p.Pro356=)
c.717G= (p.Pro239=)
1g.155294538C>GCA1144180PKLRc.909G>C (p.Pro303=)
c.816G>C (p.Pro272=)
c.1068G>C (p.Pro356=)
c.717G>C (p.Pro239=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294538C>TCA421245539PKLRc.909G>A (p.Pro303=)
c.816G>A (p.Pro272=)
c.1068G>A (p.Pro356=)
c.717G>A (p.Pro239=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294539G>ACA1144181PKLRc.908C>T (p.Pro303Leu)
c.815C>T (p.Pro272Leu)
c.1067C>T (p.Pro356Leu)
c.716C>T (p.Pro239Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155294539G>CCA342753928PKLRc.908C>G (p.Pro303Arg)
c.815C>G (p.Pro272Arg)
c.1067C>G (p.Pro356Arg)
c.716C>G (p.Pro239Arg)
1g.155294539G=CA1148396536PKLRc.908C= (p.Pro303=)
c.815C= (p.Pro272=)
c.1067C= (p.Pro356=)
c.716C= (p.Pro239=)
1g.155294539G>TCA342753925PKLRc.908C>A (p.Pro303Gln)
c.815C>A (p.Pro272Gln)
c.1067C>A (p.Pro356Gln)
c.716C>A (p.Pro239Gln)
 dbSNP
1g.155294539_155294540delCA2586967536PKLRc.907_908del (p.Pro303GlyfsTer12)
c.814_815del (p.Pro272GlyfsTer12)
c.1066_1067del (p.Pro356GlyfsTer12)
c.715_716del (p.Pro239GlyfsTer12)
1g.155294540G>ACA342753930PKLRc.907C>T (p.Pro303Ser)
c.814C>T (p.Pro272Ser)
c.1066C>T (p.Pro356Ser)
c.715C>T (p.Pro239Ser)
 dbSNP
1g.155294540G>CCA1144182PKLRc.907C>G (p.Pro303Ala)
c.814C>G (p.Pro272Ala)
c.1066C>G (p.Pro356Ala)
c.715C>G (p.Pro239Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294540G=CA1143518247PKLRc.907C= (p.Pro303=)
c.814C= (p.Pro272=)
c.1066C= (p.Pro356=)
c.715C= (p.Pro239=)
1g.155294540G>TCA342753933PKLRc.907C>A (p.Pro303Thr)
c.814C>A (p.Pro272Thr)
c.1066C>A (p.Pro356Thr)
c.715C>A (p.Pro239Thr)
1g.155294541A=CA1200112202PKLRc.906T= (p.Gly302=)
c.813T= (p.Gly271=)
c.1065T= (p.Gly355=)
c.714T= (p.Gly238=)
1g.155294541A>CCA421245542PKLRc.906T>G (p.Gly302=)
c.813T>G (p.Gly271=)
c.1065T>G (p.Gly355=)
c.714T>G (p.Gly238=)
1g.155294541A>GCA1144183PKLRc.906T>C (p.Gly302=)
c.813T>C (p.Gly271=)
c.1065T>C (p.Gly355=)
c.714T>C (p.Gly238=)
 dbSNP ExAC gnomAD v2
1g.155294541A>TCA421245543PKLRc.906T>A (p.Gly302=)
c.813T>A (p.Gly271=)
c.1065T>A (p.Gly355=)
c.714T>A (p.Gly238=)
1g.155294542C>ACA342753937PKLRc.905G>T (p.Gly302Val)
c.812G>T (p.Gly271Val)
c.1064G>T (p.Gly355Val)
c.713G>T (p.Gly238Val)
1g.155294542C=CA1200112203PKLRc.905G= (p.Gly302=)
c.812G= (p.Gly271=)
c.1064G= (p.Gly355=)
c.713G= (p.Gly238=)
1g.155294542C>GCA342753939PKLRc.905G>C (p.Gly302Ala)
c.812G>C (p.Gly271Ala)
c.1064G>C (p.Gly355Ala)
c.713G>C (p.Gly238Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.155294542C>TCA342753940PKLRc.905G>A (p.Gly302Asp)
c.812G>A (p.Gly271Asp)
c.1064G>A (p.Gly355Asp)
c.713G>A (p.Gly238Asp)
 gnomAD v4
1g.155294543C>ACA342753943PKLRc.904G>T (p.Gly302Cys)
c.811G>T (p.Gly271Cys)
c.1063G>T (p.Gly355Cys)
c.712G>T (p.Gly238Cys)
1g.155294543C>GCA342753945PKLRc.904G>C (p.Gly302Arg)
c.811G>C (p.Gly271Arg)
c.1063G>C (p.Gly355Arg)
c.712G>C (p.Gly238Arg)
1g.155294543C>TCA342753946PKLRc.904G>A (p.Gly302Ser)
c.811G>A (p.Gly271Ser)
c.1063G>A (p.Gly355Ser)
c.712G>A (p.Gly238Ser)
1g.155294544C>ACA421245545PKLRc.903G>T (p.Leu301=)
c.810G>T (p.Leu270=)
c.1062G>T (p.Leu354=)
c.711G>T (p.Leu237=)
1g.155294544C=CA1200112204PKLRc.903G= (p.Leu301=)
c.810G= (p.Leu270=)
c.1062G= (p.Leu354=)
c.711G= (p.Leu237=)
1g.155294544C>GCA421245546PKLRc.903G>C (p.Leu301=)
c.810G>C (p.Leu270=)
c.1062G>C (p.Leu354=)
c.711G>C (p.Leu237=)
 gnomAD v4
1g.155294544C>TCA1144184PKLRc.903G>A (p.Leu301=)
c.810G>A (p.Leu270=)
c.1062G>A (p.Leu354=)
c.711G>A (p.Leu237=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294545A>CCA342753953PKLRc.902T>G (p.Leu301Arg)
c.809T>G (p.Leu270Arg)
c.1061T>G (p.Leu354Arg)
c.710T>G (p.Leu237Arg)
1g.155294545A>GCA342753955PKLRc.902T>C (p.Leu301Pro)
c.809T>C (p.Leu270Pro)
c.1061T>C (p.Leu354Pro)
c.710T>C (p.Leu237Pro)
 COSMIC
1g.155294545A>TCA342753951PKLRc.902T>A (p.Leu301Gln)
c.809T>A (p.Leu270Gln)
c.1061T>A (p.Leu354Gln)
c.710T>A (p.Leu237Gln)
1g.155294546G>ACA421245549PKLRc.901C>T (p.Leu301=)
c.808C>T (p.Leu270=)
c.1060C>T (p.Leu354=)
c.709C>T (p.Leu237=)
1g.155294546G>CCA342753957PKLRc.901C>G (p.Leu301Val)
c.808C>G (p.Leu270Val)
c.1060C>G (p.Leu354Val)
c.709C>G (p.Leu237Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294546G=CA1200112205PKLRc.901C= (p.Leu301=)
c.808C= (p.Leu270=)
c.1060C= (p.Leu354=)
c.709C= (p.Leu237=)
1g.155294546G>TCA342753959PKLRc.901C>A (p.Leu301Met)
c.808C>A (p.Leu270Met)
c.1060C>A (p.Leu354Met)
c.709C>A (p.Leu237Met)
1g.155294547A>CCA421245551PKLRc.900T>G (p.Ala300=)
c.807T>G (p.Ala269=)
c.1059T>G (p.Ala353=)
c.708T>G (p.Ala236=)
1g.155294547A>GCA421245552PKLRc.900T>C (p.Ala300=)
c.807T>C (p.Ala269=)
c.1059T>C (p.Ala353=)
c.708T>C (p.Ala236=)
1g.155294547A>TCA421245553PKLRc.900T>A (p.Ala300=)
c.807T>A (p.Ala269=)
c.1059T>A (p.Ala353=)
c.708T>A (p.Ala236=)
1g.155294548G>ACA342753961PKLRc.899C>T (p.Ala300Val)
c.806C>T (p.Ala269Val)
c.1058C>T (p.Ala353Val)
c.707C>T (p.Ala236Val)
1g.155294548G>CCA342753963PKLRc.899C>G (p.Ala300Gly)
c.806C>G (p.Ala269Gly)
c.1058C>G (p.Ala353Gly)
c.707C>G (p.Ala236Gly)
1g.155294548G>TCA342753965PKLRc.899C>A (p.Ala300Asp)
c.806C>A (p.Ala269Asp)
c.1058C>A (p.Ala353Asp)
c.707C>A (p.Ala236Asp)
1g.155294549C>ACA342753971PKLRc.898G>T (p.Ala300Ser)
c.805G>T (p.Ala269Ser)
c.1057G>T (p.Ala353Ser)
c.706G>T (p.Ala236Ser)
1g.155294549C>GCA342753967PKLRc.898G>C (p.Ala300Pro)
c.805G>C (p.Ala269Pro)
c.1057G>C (p.Ala353Pro)
c.706G>C (p.Ala236Pro)
1g.155294549C>TCA342753969PKLRc.898G>A (p.Ala300Thr)
c.805G>A (p.Ala269Thr)
c.1057G>A (p.Ala353Thr)
c.706G>A (p.Ala236Thr)
1g.155294550A>CCA421245556PKLRc.897T>G (p.Ala299=)
c.804T>G (p.Ala268=)
c.1056T>G (p.Ala352=)
c.705T>G (p.Ala235=)
1g.155294550A>GCA421245557PKLRc.897T>C (p.Ala299=)
c.804T>C (p.Ala268=)
c.1056T>C (p.Ala352=)
c.705T>C (p.Ala235=)
1g.155294550A>TCA421245554PKLRc.897T>A (p.Ala299=)
c.804T>A (p.Ala268=)
c.1056T>A (p.Ala352=)
c.705T>A (p.Ala235=)

Number of alleles fetched