| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155290514_155290545del | CA2648266852 | PKLR | c.*31_*62del (n.*31_*62del) | gnomAD v4 |
| 1 | g.155290529_155290566del | CA2648266866 | PKLR | c.*10_*47del (n.*10_*47del) | gnomAD v4 |
| 1 | g.155290526_155290543dup | CA526429608 | PKLR | c.*29_*46dup (n.*29_*46dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290530T>G | CA1007984767 | PKLR | c.*42A>C (n.*42A>C) | gnomAD v3 gnomAD v4 |
| 1 | g.155290531G>A | CA2573915512 | PKLR | c.*41C>T (n.*41C>T) | |
| 1 | g.155290531G>T | CA2648266875 | PKLR | c.*41C>A (n.*41C>A) | gnomAD v4 |
| 1 | g.155290534del | CA2573915478 | PKLR | c.*41del (n.*41del) | gnomAD v4 |
| 1 | g.155290535_155290567del | CA2648266873 | PKLR | c.*9_*41del (n.*9_*41del) | gnomAD v4 |
| 1 | g.155290534_155290567del | CA2648266874 | PKLR | c.*8_*41del (n.*8_*41del) | gnomAD v4 |
| 1 | g.155290532G>C | CA2697498057 | PKLR | c.*40C>G (n.*40C>G) | dbSNP |
| 1 | g.155290532G>T | CA2573915622 | PKLR | c.*40C>A (n.*40C>A) | gnomAD v4 |
| 1 | g.155290533G>A | CA526429610 | PKLR | c.*39C>T (n.*39C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155290533G= | CA2481224787 | PKLR | c.*39C= (n.*39C=) | |
| 1 | g.155290534G>A | CA1143903 | PKLR | c.*38C>T (n.*38C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290534G= | CA2481224788 | PKLR | c.*38C= (n.*38C=) | |
| 1 | g.155290534G>T | CA1007984769 | PKLR | c.*38C>A (n.*38C>A) | gnomAD v3 gnomAD v4 |
| 1 | g.155290535T>G | CA1007984771 | PKLR | c.*37A>C (n.*37A>C) | gnomAD v3 gnomAD v4 |
| 1 | g.155290536A>C | CA2648266880 | PKLR | c.*36T>G (n.*36T>G) | gnomAD v4 |
| 1 | g.155290536A>T | CA2648266879 | PKLR | c.*36T>A (n.*36T>A) | gnomAD v4 |
| 1 | g.155290538A= | CA1149105354 | PKLR | c.*34T= (n.*34T=) | |
| 1 | g.155290538A>G | CA1143904 | PKLR | c.*34T>C (n.*34T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155290540G>A | CA526429611 | PKLR | c.*32C>T (n.*32C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155290540G= | CA2481224789 | PKLR | c.*32C= (n.*32C=) | |
| 1 | g.155290540G>T | CA2648266881 | PKLR | c.*32C>A (n.*32C>A) | gnomAD v4 |
| 1 | g.155290541G>A | CA889655154 | PKLR | c.*31C>T (n.*31C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155290541G= | CA2481224790 | PKLR | c.*31C= (n.*31C=) | |
| 1 | g.155290541G>T | CA2648266882 | PKLR | c.*31C>A (n.*31C>A) | gnomAD v4 |
| 1 | g.155290542G>T | CA2648266884 | PKLR | c.*30C>A (n.*30C>A) | gnomAD v4 |
| 1 | g.155290543T>C | CA2648266885 | PKLR | c.*29A>G (n.*29A>G) | gnomAD v4 |
| 1 | g.155290543T>G | CA1007984775 | PKLR | c.*29A>C (n.*29A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155290543T= | CA2481224791 | PKLR | c.*29A= (n.*29A=) | |
| 1 | g.155290544A>G | CA1007984777 | PKLR | c.*28T>C (n.*28T>C) | gnomAD v3 gnomAD v4 |
| 1 | g.155290545G>T | CA2573915631 | PKLR | c.*27C>A (n.*27C>A) | gnomAD v4 |
| 1 | g.155290546G>A | CA526429612 | PKLR | c.*26C>T (n.*26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290546G= | CA2481224792 | PKLR | c.*26C= (n.*26C=) | |
| 1 | g.155290546G>T | CA2648266886 | PKLR | c.*26C>A (n.*26C>A) | gnomAD v4 |
| 1 | g.155290547C>T | CA2573915776 | PKLR | c.*25G>A (n.*25G>A) | gnomAD v4 |
| 1 | g.155290548T>C | CA2648266887 | PKLR | c.*24A>G (n.*24A>G) | gnomAD v4 |
| 1 | g.155290548T>G | CA1007984779 | PKLR | c.*24A>C (n.*24A>C) | gnomAD v3 gnomAD v4 |
| 1 | g.155290549G>A | CA2648266888 | PKLR | c.*23C>T (n.*23C>T) | gnomAD v4 |
| 1 | g.155290549G>C | CA1007984781 | PKLR | c.*23C>G (n.*23C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155290549G= | CA2481224793 | PKLR | c.*23C= (n.*23C=) | |
| 1 | g.155290549G>T | CA2573915837 | PKLR | c.*23C>A (n.*23C>A) | gnomAD v4 |
| 1 | g.155290551del | CA2573915784 | PKLR | c.*23del (n.*23del) | gnomAD v4 |
| 1 | g.155290550G>A | CA2648266889 | PKLR | c.*22C>T (n.*22C>T) | gnomAD v4 |
| 1 | g.155290550G= | CA2481224794 | PKLR | c.*22C= (n.*22C=) | |
| 1 | g.155290550G>T | CA1143905 | PKLR | c.*22C>A (n.*22C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155290551G>A | CA2648266890 | PKLR | c.*21C>T (n.*21C>T) | gnomAD v4 |
| 1 | g.155290551G>T | CA2573915844 | PKLR | c.*21C>A (n.*21C>A) | gnomAD v4 |
| 1 | g.155290552C= | CA2481224795 | PKLR | c.*20G= (n.*20G=) | |
| 1 | g.155290552C>G | CA2573568231 | PKLR | c.*20G>C (n.*20G>C) | |
| 1 | g.155290552C>T | CA1143906 | PKLR | c.*20G>A (n.*20G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155290553C= | CA2481224796 | PKLR | c.*19G= (n.*19G=) | |
| 1 | g.155290553C>G | CA526429613 | PKLR | c.*19G>C (n.*19G>C) | dbSNP gnomAD v2 |
| 1 | g.155290553C>T | CA2648266893 | PKLR | c.*19G>A (n.*19G>A) | gnomAD v4 |
| 1 | g.155290554A>C | CA2648266894 | PKLR | c.*18T>G (n.*18T>G) | gnomAD v4 |
| 1 | g.155290554A>G | CA2648266895 | PKLR | c.*18T>C (n.*18T>C) | gnomAD v4 |
| 1 | g.155290554A>T | CA2648266896 | PKLR | c.*18T>A (n.*18T>A) | gnomAD v4 |
| 1 | g.155290555G>A | CA2648266898 | PKLR | c.*17C>T (n.*17C>T) | gnomAD v4 |
| 1 | g.155290555G>T | CA2533559721 | PKLR | c.*17C>A (n.*17C>A) | dbSNP gnomAD v4 |
| 1 | g.155290556A>C | CA2746210342 | PKLR | c.*16T>G (n.*16T>G) | |
| 1 | g.155290556A>G | CA1007984791 | PKLR | c.*16T>C (n.*16T>C) | gnomAD v3 gnomAD v4 |
| 1 | g.155290557G>A | CA1143907 | PKLR | c.*15C>T (n.*15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290557G>C | CA1143908 | PKLR | c.*15C>G (n.*15C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155290557G= | CA1144015503 | PKLR | c.*15C= (n.*15C=) | |
| 1 | g.155290557G>T | CA2648266900 | PKLR | c.*15C>A (n.*15C>A) | gnomAD v4 |
| 1 | g.155290558dup | CA2648266902 | PKLR | c.*15dup (n.*15dup) | gnomAD v4 |
| 1 | g.155290563_155290566del | CA2648266901 | PKLR | c.*12_*15del (n.*12_*15del) | gnomAD v4 |
| 1 | g.155290558G>A | CA1143909 | PKLR | c.*14C>T (n.*14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290558G>C | CA1143910 | PKLR | c.*14C>G (n.*14C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290558G= | CA1140162998 | PKLR | c.*14C= (n.*14C=) | |
| 1 | g.155290558G>T | CA421019101 | PKLR | c.*14C>A (n.*14C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290558_155290559delinsTG | CA2499214195 | PKLR | c.*13_*14delinsCA (n.*13_*14delinsCA) | ClinVar dbSNP |
| 1 | g.155290559del | CA2648266906 | PKLR | c.*13del (n.*13del) | gnomAD v4 |
| 1 | g.155290559A= | CA1139849344 | PKLR | c.*13T= (n.*13T=) | |
| 1 | g.155290559A>C | CA1143912 | PKLR | c.*13T>G (n.*13T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290559A>G | CA1143911 | PKLR | c.*13T>C (n.*13T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290559A>T | CA526429614 | PKLR | c.*13T>A (n.*13T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290560G>A | CA2481224798 | PKLR | c.*12C>T (n.*12C>T) | dbSNP gnomAD v4 |
| 1 | g.155290560G= | CA2481224797 | PKLR | c.*12C= (n.*12C=) | |
| 1 | g.155290560G>T | CA1143913 | PKLR | c.*12C>A (n.*12C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155290562del | CA2648266907 | PKLR | c.*12del (n.*12del) | gnomAD v4 |
| 1 | g.155290561G>A | CA2648266908 | PKLR | c.*11C>T (n.*11C>T) | gnomAD v4 |
| 1 | g.155290561G>T | CA2648266909 | PKLR | c.*11C>A (n.*11C>A) | gnomAD v4 |
| 1 | g.155290562G>A | CA2648266910 | PKLR | c.*10C>T (n.*10C>T) | gnomAD v4 |
| 1 | g.155290562G>T | CA2648266911 | PKLR | c.*10C>A (n.*10C>A) | gnomAD v4 |
| 1 | g.155290563del | CA2648266912 | PKLR | c.*9del (n.*9del) | gnomAD v4 |
| 1 | g.155290563A>G | CA2648266913 | PKLR | c.*9T>C (n.*9T>C) | gnomAD v4 |
| 1 | g.155290563A>T | CA2648266914 | PKLR | c.*9T>A (n.*9T>A) | gnomAD v4 |
| 1 | g.155290564G>A | CA889655176 | PKLR | c.*8C>T (n.*8C>T) | dbSNP gnomAD v4 |
| 1 | g.155290564G= | CA2481224799 | PKLR | c.*8C= (n.*8C=) | |
| 1 | g.155290564G>T | CA2648266916 | PKLR | c.*8C>A (n.*8C>A) | gnomAD v4 |
| 1 | g.155290567del | CA2648266915 | PKLR | c.*8del (n.*8del) | gnomAD v4 |
| 1 | g.155290565G>A | CA2648266917 | PKLR | c.*7C>T (n.*7C>T) | gnomAD v4 |
| 1 | g.155290565G>T | CA2648266918 | PKLR | c.*7C>A (n.*7C>A) | gnomAD v4 |
| 1 | g.155290566G>C | CA2648266919 | PKLR | c.*6C>G (n.*6C>G) | gnomAD v4 |
| 1 | g.155290566G>T | CA2648266920 | PKLR | c.*6C>A (n.*6C>A) | gnomAD v4 |
| 1 | g.155290567G>A | CA2648266921 | PKLR | c.*5C>T (n.*5C>T) | gnomAD v4 |
| 1 | g.155290567G>C | CA2648266922 | PKLR | c.*5C>G (n.*5C>G) | gnomAD v4 |
| 1 | g.155290567G>T | CA2648266923 | PKLR | c.*5C>A (n.*5C>A) | dbSNP gnomAD v4 |
| 1 | g.155290568C= | CA2481224800 | PKLR | c.*4G= (n.*4G=) | |
| 1 | g.155290568C>G | CA2648266924 | PKLR | c.*4G>C (n.*4G>C) | gnomAD v4 |
| 1 | g.155290568C>T | CA1143914 | PKLR | c.*4G>A (n.*4G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155290569G>A | CA1143915 | PKLR | c.*3C>T (n.*3C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290569G= | CA1143579143 | PKLR | c.*3C= (n.*3C=) | |
| 1 | g.155290569G>T | CA1143916 | PKLR | c.*3C>A (n.*3C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290571C= | CA2481224801 | PKLR | c.*1G= (n.*1G=) | |
| 1 | g.155290571C>G | CA2697255720 | PKLR | c.*1G>C (n.*1G>C) | dbSNP |
| 1 | g.155290571C>T | CA526429615 | PKLR | c.*1G>A (n.*1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155290572T>A | CA342748073 | PKLR | c.1725A>T (p.Ter575Cys) c.1632A>T (p.Ter544Cys) c.1884A>T (p.Ter628Cys) c.1533A>T (p.Ter511Cys) | |
| 1 | g.155290572T>C | CA342748074 | PKLR | c.1725A>G (p.Ter575Trp) c.1632A>G (p.Ter544Trp) c.1884A>G (p.Ter628Trp) c.1533A>G (p.Ter511Trp) | gnomAD v4 |
| 1 | g.155290572T>G | CA342748075 | PKLR | c.1725A>C (p.Ter575Cys) c.1632A>C (p.Ter544Cys) c.1884A>C (p.Ter628Cys) c.1533A>C (p.Ter511Cys) | |
| 1 | g.155290573C>A | CA342748077 | PKLR | c.1724G>T (p.Ter575Leu) c.1631G>T (p.Ter544Leu) c.1883G>T (p.Ter628Leu) c.1532G>T (p.Ter511Leu) | |
| 1 | g.155290573C>G | CA342748078 | PKLR | c.1724G>C (p.Ter575Ser) c.1631G>C (p.Ter544Ser) c.1883G>C (p.Ter628Ser) c.1532G>C (p.Ter511Ser) | gnomAD v4 |
| 1 | g.155290573C>T | CA421019122 | PKLR | c.1724G>A (p.Ter575=) c.1631G>A (p.Ter544=) c.1883G>A (p.Ter628=) c.1532G>A (p.Ter511=) | dbSNP gnomAD v4 |
| 1 | g.155290573_155290596del | CA2648266926 | PKLR | c.1701_1724del (p.Met568_Ter575del) c.1608_1631del (p.Met537_Ter544del) c.1860_1883del (p.Met621_Ter628del) c.1509_1532del (p.Met504_Ter511del) | gnomAD v4 |
| 1 | g.155290574A>C | CA342748081 | PKLR | c.1723T>G (p.Ter575Gly) c.1630T>G (p.Ter544Gly) c.1882T>G (p.Ter628Gly) c.1531T>G (p.Ter511Gly) | |
| 1 | g.155290574A>G | CA342748083 | PKLR | c.1723T>C (p.Ter575Arg) c.1630T>C (p.Ter544Arg) c.1882T>C (p.Ter628Arg) c.1531T>C (p.Ter511Arg) | gnomAD v4 |
| 1 | g.155290574A>T | CA342748084 | PKLR | c.1723T>A (p.Ter575Arg) c.1630T>A (p.Ter544Arg) c.1882T>A (p.Ter628Arg) c.1531T>A (p.Ter511Arg) | |
| 1 | g.155290575G>A | CA421019131 | PKLR | c.1722C>T (p.Ser574=) c.1629C>T (p.Ser543=) c.1881C>T (p.Ser627=) c.1530C>T (p.Ser510=) | gnomAD v4 |
| 1 | g.155290575G>C | CA421019129 | PKLR | c.1722C>G (p.Ser574=) c.1629C>G (p.Ser543=) c.1881C>G (p.Ser627=) c.1530C>G (p.Ser510=) | |
| 1 | g.155290575G>T | CA421019127 | PKLR | c.1722C>A (p.Ser574=) c.1629C>A (p.Ser543=) c.1881C>A (p.Ser627=) c.1530C>A (p.Ser510=) | gnomAD v4 |
| 1 | g.155290576G>A | CA342748087 | PKLR | c.1721C>T (p.Ser574Phe) c.1628C>T (p.Ser543Phe) c.1880C>T (p.Ser627Phe) c.1529C>T (p.Ser510Phe) | dbSNP gnomAD v4 |
| 1 | g.155290576G>C | CA342748090 | PKLR | c.1721C>G (p.Ser574Cys) c.1628C>G (p.Ser543Cys) c.1880C>G (p.Ser627Cys) c.1529C>G (p.Ser510Cys) | |
| 1 | g.155290576G= | CA2481224802 | PKLR | c.1721C= (p.Ser574=) c.1628C= (p.Ser543=) c.1880C= (p.Ser627=) c.1529C= (p.Ser510=) | |
| 1 | g.155290576G>T | CA342748089 | PKLR | c.1721C>A (p.Ser574Tyr) c.1628C>A (p.Ser543Tyr) c.1880C>A (p.Ser627Tyr) c.1529C>A (p.Ser510Tyr) | gnomAD v4 |
| 1 | g.155290577A>C | CA342748093 | PKLR | c.1720T>G (p.Ser574Ala) c.1627T>G (p.Ser543Ala) c.1879T>G (p.Ser627Ala) c.1528T>G (p.Ser510Ala) | |
| 1 | g.155290577A>G | CA342748095 | PKLR | c.1720T>C (p.Ser574Pro) c.1627T>C (p.Ser543Pro) c.1879T>C (p.Ser627Pro) c.1528T>C (p.Ser510Pro) | gnomAD v4 |
| 1 | g.155290577A>T | CA342748096 | PKLR | c.1720T>A (p.Ser574Thr) c.1627T>A (p.Ser543Thr) c.1879T>A (p.Ser627Thr) c.1528T>A (p.Ser510Thr) | |
| 1 | g.155290578T>A | CA421019142 | PKLR | c.1719A>T (p.Ile573=) c.1626A>T (p.Ile542=) c.1878A>T (p.Ile626=) c.1527A>T (p.Ile509=) | |
| 1 | g.155290578T>C | CA342748098 | PKLR | c.1719A>G (p.Ile573Met) c.1626A>G (p.Ile542Met) c.1878A>G (p.Ile626Met) c.1527A>G (p.Ile509Met) | gnomAD v4 |
| 1 | g.155290578T>G | CA421019144 | PKLR | c.1719A>C (p.Ile573=) c.1626A>C (p.Ile542=) c.1878A>C (p.Ile626=) c.1527A>C (p.Ile509=) | |
| 1 | g.155290579A>C | CA342748101 | PKLR | c.1718T>G (p.Ile573Arg) c.1625T>G (p.Ile542Arg) c.1877T>G (p.Ile626Arg) c.1526T>G (p.Ile509Arg) | |
| 1 | g.155290579A>G | CA342748103 | PKLR | c.1718T>C (p.Ile573Thr) c.1625T>C (p.Ile542Thr) c.1877T>C (p.Ile626Thr) c.1526T>C (p.Ile509Thr) | |
| 1 | g.155290579A>T | CA342748102 | PKLR | c.1718T>A (p.Ile573Lys) c.1625T>A (p.Ile542Lys) c.1877T>A (p.Ile626Lys) c.1526T>A (p.Ile509Lys) | |
| 1 | g.155290580T>A | CA342748105 | PKLR | c.1717A>T (p.Ile573Leu) c.1624A>T (p.Ile542Leu) c.1876A>T (p.Ile626Leu) c.1525A>T (p.Ile509Leu) | |
| 1 | g.155290580T>C | CA342748107 | PKLR | c.1717A>G (p.Ile573Val) c.1624A>G (p.Ile542Val) c.1876A>G (p.Ile626Val) c.1525A>G (p.Ile509Val) | gnomAD v4 |
| 1 | g.155290580T>G | CA342748109 | PKLR | c.1717A>C (p.Ile573Leu) c.1624A>C (p.Ile542Leu) c.1876A>C (p.Ile626Leu) c.1525A>C (p.Ile509Leu) | |
| 1 | g.155290581G>A | CA421019155 | PKLR | c.1716C>T (p.Ser572=) c.1623C>T (p.Ser541=) c.1875C>T (p.Ser625=) c.1524C>T (p.Ser508=) | |
| 1 | g.155290581G>C | CA342748111 | PKLR | c.1716C>G (p.Ser572Arg) c.1623C>G (p.Ser541Arg) c.1875C>G (p.Ser625Arg) c.1524C>G (p.Ser508Arg) | |
| 1 | g.155290581G>T | CA342748113 | PKLR | c.1716C>A (p.Ser572Arg) c.1623C>A (p.Ser541Arg) c.1875C>A (p.Ser625Arg) c.1524C>A (p.Ser508Arg) | gnomAD v4 |
| 1 | g.155290582C>A | CA342748115 | PKLR | c.1715G>T (p.Ser572Ile) c.1622G>T (p.Ser541Ile) c.1874G>T (p.Ser625Ile) c.1523G>T (p.Ser508Ile) | |
| 1 | g.155290582C>G | CA342748117 | PKLR | c.1715G>C (p.Ser572Thr) c.1622G>C (p.Ser541Thr) c.1874G>C (p.Ser625Thr) c.1523G>C (p.Ser508Thr) | |
| 1 | g.155290582C>T | CA342748118 | PKLR | c.1715G>A (p.Ser572Asn) c.1622G>A (p.Ser541Asn) c.1874G>A (p.Ser625Asn) c.1523G>A (p.Ser508Asn) | |
| 1 | g.155290583T>A | CA342748119 | PKLR | c.1714A>T (p.Ser572Cys) c.1621A>T (p.Ser541Cys) c.1873A>T (p.Ser625Cys) c.1522A>T (p.Ser508Cys) | |
| 1 | g.155290583T>C | CA342748120 | PKLR | c.1714A>G (p.Ser572Gly) c.1621A>G (p.Ser541Gly) c.1873A>G (p.Ser625Gly) c.1522A>G (p.Ser508Gly) | gnomAD v4 |
| 1 | g.155290583T>G | CA342748122 | PKLR | c.1714A>C (p.Ser572Arg) c.1621A>C (p.Ser541Arg) c.1873A>C (p.Ser625Arg) c.1522A>C (p.Ser508Arg) | |
| 1 | g.155290584del | CA2648266931 | PKLR | c.1714del (p.Ser572AlafsTer?) c.1621del (p.Ser541AlafsTer?) c.1873del (p.Ser625AlafsTer?) c.1522del (p.Ser508AlafsTer?) | gnomAD v4 |
| 1 | g.155290584T>A | CA421019168 | PKLR | c.1713A>T (p.Leu571=) c.1620A>T (p.Leu540=) c.1872A>T (p.Leu624=) c.1521A>T (p.Leu507=) | |
| 1 | g.155290584T>C | CA30899299 | PKLR | c.1713A>G (p.Leu571=) c.1620A>G (p.Leu540=) c.1872A>G (p.Leu624=) c.1521A>G (p.Leu507=) | dbSNP gnomAD v4 |
| 1 | g.155290584T>G | CA421019172 | PKLR | c.1713A>C (p.Leu571=) c.1620A>C (p.Leu540=) c.1872A>C (p.Leu624=) c.1521A>C (p.Leu507=) | |
| 1 | g.155290584T= | CA2481224803 | PKLR | c.1713A= (p.Leu571=) c.1620A= (p.Leu540=) c.1872A= (p.Leu624=) c.1521A= (p.Leu507=) | |
| 1 | g.155290585A>C | CA342748125 | PKLR | c.1712T>G (p.Leu571Arg) c.1619T>G (p.Leu540Arg) c.1871T>G (p.Leu624Arg) c.1520T>G (p.Leu507Arg) | |
| 1 | g.155290585A>G | CA342748129 | PKLR | c.1712T>C (p.Leu571Pro) c.1619T>C (p.Leu540Pro) c.1871T>C (p.Leu624Pro) c.1520T>C (p.Leu507Pro) | gnomAD v4 |
| 1 | g.155290585A>T | CA342748127 | PKLR | c.1712T>A (p.Leu571Gln) c.1619T>A (p.Leu540Gln) c.1871T>A (p.Leu624Gln) c.1520T>A (p.Leu507Gln) | |
| 1 | g.155290586G>A | CA421019178 | PKLR | c.1711C>T (p.Leu571=) c.1618C>T (p.Leu540=) c.1870C>T (p.Leu624=) c.1519C>T (p.Leu507=) | gnomAD v4 |
| 1 | g.155290586G>C | CA342748131 | PKLR | c.1711C>G (p.Leu571Val) c.1618C>G (p.Leu540Val) c.1870C>G (p.Leu624Val) c.1519C>G (p.Leu507Val) | |
| 1 | g.155290586G>T | CA342748133 | PKLR | c.1711C>A (p.Leu571Ile) c.1618C>A (p.Leu540Ile) c.1870C>A (p.Leu624Ile) c.1519C>A (p.Leu507Ile) | gnomAD v4 |
| 1 | g.155290587C>A | CA421019183 | PKLR | c.1710G>T (p.Val570=) c.1617G>T (p.Val539=) c.1869G>T (p.Val623=) c.1518G>T (p.Val506=) | |
| 1 | g.155290587C= | CA1146137371 | PKLR | c.1710G= (p.Val570=) c.1617G= (p.Val539=) c.1869G= (p.Val623=) c.1518G= (p.Val506=) | |
| 1 | g.155290587C>G | CA30899302 | PKLR | c.1710G>C (p.Val570=) c.1617G>C (p.Val539=) c.1869G>C (p.Val623=) c.1518G>C (p.Val506=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155290587C>T | CA421019186 | PKLR | c.1710G>A (p.Val570=) c.1617G>A (p.Val539=) c.1869G>A (p.Val623=) c.1518G>A (p.Val506=) | gnomAD v4 |
| 1 | g.155290588A>C | CA342748137 | PKLR | c.1709T>G (p.Val570Gly) c.1616T>G (p.Val539Gly) c.1868T>G (p.Val623Gly) c.1517T>G (p.Val506Gly) | |
| 1 | g.155290588A>G | CA342748139 | PKLR | c.1709T>C (p.Val570Ala) c.1616T>C (p.Val539Ala) c.1868T>C (p.Val623Ala) c.1517T>C (p.Val506Ala) | |
| 1 | g.155290588A>T | CA342748141 | PKLR | c.1709T>A (p.Val570Glu) c.1616T>A (p.Val539Glu) c.1868T>A (p.Val623Glu) c.1517T>A (p.Val506Glu) | |
| 1 | g.155290589C>A | CA342748142 | PKLR | c.1708G>T (p.Val570Leu) c.1615G>T (p.Val539Leu) c.1867G>T (p.Val623Leu) c.1516G>T (p.Val506Leu) | |
| 1 | g.155290589C= | CA2481224804 | PKLR | c.1708G= (p.Val570=) c.1615G= (p.Val539=) c.1867G= (p.Val623=) c.1516G= (p.Val506=) | |
| 1 | g.155290589C>G | CA342748144 | PKLR | c.1708G>C (p.Val570Leu) c.1615G>C (p.Val539Leu) c.1867G>C (p.Val623Leu) c.1516G>C (p.Val506Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155290589C>T | CA342748145 | PKLR | c.1708G>A (p.Val570Met) c.1615G>A (p.Val539Met) c.1867G>A (p.Val623Met) c.1516G>A (p.Val506Met) | gnomAD v4 |
| 1 | g.155290591del | CA2648266941 | PKLR | c.1708del (p.Val570CysfsTer2) c.1615del (p.Val539CysfsTer2) c.1867del (p.Val623CysfsTer2) c.1516del (p.Val506CysfsTer2) | gnomAD v4 |
| 1 | g.155290590C>A | CA421019198 | PKLR | c.1707G>T (p.Arg569=) c.1614G>T (p.Arg538=) c.1866G>T (p.Arg622=) c.1515G>T (p.Arg505=) | |
| 1 | g.155290590C>G | CA421019200 | PKLR | c.1707G>C (p.Arg569=) c.1614G>C (p.Arg538=) c.1866G>C (p.Arg622=) c.1515G>C (p.Arg505=) | |
| 1 | g.155290590C>T | CA421019202 | PKLR | c.1707G>A (p.Arg569=) c.1614G>A (p.Arg538=) c.1866G>A (p.Arg622=) c.1515G>A (p.Arg505=) | gnomAD v4 COSMIC |
| 1 | g.155290591C>A | CA342748147 | PKLR | c.1706G>T (p.Arg569Leu) c.1613G>T (p.Arg538Leu) c.1865G>T (p.Arg622Leu) c.1514G>T (p.Arg505Leu) | gnomAD v4 |
| 1 | g.155290591C= | CA1140726270 | PKLR | c.1706G= (p.Arg569=) c.1613G= (p.Arg538=) c.1865G= (p.Arg622=) c.1514G= (p.Arg505=) | |
| 1 | g.155290591C>G | CA342748149 | PKLR | c.1706G>C (p.Arg569Pro) c.1613G>C (p.Arg538Pro) c.1865G>C (p.Arg622Pro) c.1514G>C (p.Arg505Pro) | |
| 1 | g.155290591C>T | CA1143917 | PKLR | c.1706G>A (p.Arg569Gln) c.1613G>A (p.Arg538Gln) c.1865G>A (p.Arg622Gln) c.1514G>A (p.Arg505Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290592G>A | CA1143919 | PKLR | c.1705C>T (p.Arg569Trp) c.1612C>T (p.Arg538Trp) c.1864C>T (p.Arg622Trp) c.1513C>T (p.Arg505Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155290592G>C | CA342748152 | PKLR | c.1705C>G (p.Arg569Gly) c.1612C>G (p.Arg538Gly) c.1864C>G (p.Arg622Gly) c.1513C>G (p.Arg505Gly) | gnomAD v4 |
| 1 | g.155290592G= | CA1139849345 | PKLR | c.1705C= (p.Arg569=) c.1612C= (p.Arg538=) c.1864C= (p.Arg622=) c.1513C= (p.Arg505=) | |
| 1 | g.155290592G>T | CA1143918 | PKLR | c.1705C>A (p.Arg569=) c.1612C>A (p.Arg538=) c.1864C>A (p.Arg622=) c.1513C>A (p.Arg505=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290593C>A | CA342748155 | PKLR | c.1704G>T (p.Met568Ile) c.1611G>T (p.Met537Ile) c.1863G>T (p.Met621Ile) c.1512G>T (p.Met504Ile) | |
| 1 | g.155290593C= | CA2481224805 | PKLR | c.1704G= (p.Met568=) c.1611G= (p.Met537=) c.1863G= (p.Met621=) c.1512G= (p.Met504=) | |
| 1 | g.155290593C>G | CA342748156 | PKLR | c.1704G>C (p.Met568Ile) c.1611G>C (p.Met537Ile) c.1863G>C (p.Met621Ile) c.1512G>C (p.Met504Ile) | |
| 1 | g.155290593C>T | CA1143920 | PKLR | c.1704G>A (p.Met568Ile) c.1611G>A (p.Met537Ile) c.1863G>A (p.Met621Ile) c.1512G>A (p.Met504Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155290594A= | CA1149071779 | PKLR | c.1703T= (p.Met568=) c.1610T= (p.Met537=) c.1862T= (p.Met621=) c.1511T= (p.Met504=) | |
| 1 | g.155290594A>C | CA342748160 | PKLR | c.1703T>G (p.Met568Arg) c.1610T>G (p.Met537Arg) c.1862T>G (p.Met621Arg) c.1511T>G (p.Met504Arg) | |
| 1 | g.155290594A>G | CA1143921 | PKLR | c.1703T>C (p.Met568Thr) c.1610T>C (p.Met537Thr) c.1862T>C (p.Met621Thr) c.1511T>C (p.Met504Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155290594A>T | CA342748163 | PKLR | c.1703T>A (p.Met568Lys) c.1610T>A (p.Met537Lys) c.1862T>A (p.Met621Lys) c.1511T>A (p.Met504Lys) | |
| 1 | g.155290595T>A | CA342748165 | PKLR | c.1702A>T (p.Met568Leu) c.1609A>T (p.Met537Leu) c.1861A>T (p.Met621Leu) c.1510A>T (p.Met504Leu) | |
| 1 | g.155290595T>C | CA342748167 | PKLR | c.1702A>G (p.Met568Val) c.1609A>G (p.Met537Val) c.1861A>G (p.Met621Val) c.1510A>G (p.Met504Val) | |
| 1 | g.155290595T>G | CA342748169 | PKLR | c.1702A>C (p.Met568Leu) c.1609A>C (p.Met537Leu) c.1861A>C (p.Met621Leu) c.1510A>C (p.Met504Leu) | |
| 1 | g.155290596G>A | CA1143922 | PKLR | c.1701C>T (p.Ile567=) c.1608C>T (p.Ile536=) c.1860C>T (p.Ile620=) c.1509C>T (p.Ile503=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155290596G>C | CA342748171 | PKLR | c.1701C>G (p.Ile567Met) c.1608C>G (p.Ile536Met) c.1860C>G (p.Ile620Met) c.1509C>G (p.Ile503Met) | |
| 1 | g.155290596G= | CA2481224806 | PKLR | c.1701C= (p.Ile567=) c.1608C= (p.Ile536=) c.1860C= (p.Ile620=) c.1509C= (p.Ile503=) | |
| 1 | g.155290596G>T | CA421019227 | PKLR | c.1701C>A (p.Ile567=) c.1608C>A (p.Ile536=) c.1860C>A (p.Ile620=) c.1509C>A (p.Ile503=) | gnomAD v4 |
| 1 | g.155290597A>C | CA342748174 | PKLR | c.1700T>G (p.Ile567Ser) c.1607T>G (p.Ile536Ser) c.1859T>G (p.Ile620Ser) c.1508T>G (p.Ile503Ser) | |
| 1 | g.155290597A>G | CA342748178 | PKLR | c.1700T>C (p.Ile567Thr) c.1607T>C (p.Ile536Thr) c.1859T>C (p.Ile620Thr) c.1508T>C (p.Ile503Thr) | |
| 1 | g.155290597A>T | CA342748175 | PKLR | c.1700T>A (p.Ile567Asn) c.1607T>A (p.Ile536Asn) c.1859T>A (p.Ile620Asn) c.1508T>A (p.Ile503Asn) | |
| 1 | g.155290598T>A | CA1143923 | PKLR | c.1699A>T (p.Ile567Phe) c.1606A>T (p.Ile536Phe) c.1858A>T (p.Ile620Phe) c.1507A>T (p.Ile503Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155290598T>C | CA342748183 | PKLR | c.1699A>G (p.Ile567Val) c.1606A>G (p.Ile536Val) c.1858A>G (p.Ile620Val) c.1507A>G (p.Ile503Val) | |
| 1 | g.155290598T>G | CA342748181 | PKLR | c.1699A>C (p.Ile567Leu) c.1606A>C (p.Ile536Leu) c.1858A>C (p.Ile620Leu) c.1507A>C (p.Ile503Leu) | |
| 1 | g.155290598T= | CA2481224807 | PKLR | c.1699A= (p.Ile567=) c.1606A= (p.Ile536=) c.1858A= (p.Ile620=) c.1507A= (p.Ile503=) | |
| 1 | g.155290599G>A | CA421019239 | PKLR | c.1698C>T (p.Asn566=) c.1605C>T (p.Asn535=) c.1857C>T (p.Asn619=) c.1506C>T (p.Asn502=) | dbSNP |
| 1 | g.155290599G>C | CA342748185 | PKLR | c.1698C>G (p.Asn566Lys) c.1605C>G (p.Asn535Lys) c.1857C>G (p.Asn619Lys) c.1506C>G (p.Asn502Lys) | |
| 1 | g.155290599G= | CA2481224808 | PKLR | c.1698C= (p.Asn566=) c.1605C= (p.Asn535=) c.1857C= (p.Asn619=) c.1506C= (p.Asn502=) | |
| 1 | g.155290599G>T | CA342748186 | PKLR | c.1698C>A (p.Asn566Lys) c.1605C>A (p.Asn535Lys) c.1857C>A (p.Asn619Lys) c.1506C>A (p.Asn502Lys) | gnomAD v4 |
| 1 | g.155290600T>A | CA342748189 | PKLR | c.1697A>T (p.Asn566Ile) c.1604A>T (p.Asn535Ile) c.1856A>T (p.Asn619Ile) c.1505A>T (p.Asn502Ile) | |
| 1 | g.155290600T>C | CA342748192 | PKLR | c.1697A>G (p.Asn566Ser) c.1604A>G (p.Asn535Ser) c.1856A>G (p.Asn619Ser) c.1505A>G (p.Asn502Ser) | gnomAD v4 |
| 1 | g.155290600T>G | CA342748191 | PKLR | c.1697A>C (p.Asn566Thr) c.1604A>C (p.Asn535Thr) c.1856A>C (p.Asn619Thr) c.1505A>C (p.Asn502Thr) | |
| 1 | g.155290601T>A | CA342748195 | PKLR | c.1696A>T (p.Asn566Tyr) c.1603A>T (p.Asn535Tyr) c.1855A>T (p.Asn619Tyr) c.1504A>T (p.Asn502Tyr) | |
| 1 | g.155290601T>C | CA342748199 | PKLR | c.1696A>G (p.Asn566Asp) c.1603A>G (p.Asn535Asp) c.1855A>G (p.Asn619Asp) c.1504A>G (p.Asn502Asp) | |
| 1 | g.155290601T>G | CA342748197 | PKLR | c.1696A>C (p.Asn566His) c.1603A>C (p.Asn535His) c.1855A>C (p.Asn619His) c.1504A>C (p.Asn502His) | |
| 1 | g.155290602G>A | CA421019252 | PKLR | c.1695C>T (p.Thr565=) c.1602C>T (p.Thr534=) c.1854C>T (p.Thr618=) c.1503C>T (p.Thr501=) | |
| 1 | g.155290602G>C | CA421019254 | PKLR | c.1695C>G (p.Thr565=) c.1602C>G (p.Thr534=) c.1854C>G (p.Thr618=) c.1503C>G (p.Thr501=) | gnomAD v4 |
| 1 | g.155290602G>T | CA421019256 | PKLR | c.1695C>A (p.Thr565=) c.1602C>A (p.Thr534=) c.1854C>A (p.Thr618=) c.1503C>A (p.Thr501=) | gnomAD v4 |
| 1 | g.155290603G>A | CA342748200 | PKLR | c.1694C>T (p.Thr565Ile) c.1601C>T (p.Thr534Ile) c.1853C>T (p.Thr618Ile) c.1502C>T (p.Thr501Ile) | |
| 1 | g.155290603G>C | CA342748202 | PKLR | c.1694C>G (p.Thr565Ser) c.1601C>G (p.Thr534Ser) c.1853C>G (p.Thr618Ser) c.1502C>G (p.Thr501Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155290603G= | CA2481224809 | PKLR | c.1694C= (p.Thr565=) c.1601C= (p.Thr534=) c.1853C= (p.Thr618=) c.1502C= (p.Thr501=) | |
| 1 | g.155290603G>T | CA342748201 | PKLR | c.1694C>A (p.Thr565Asn) c.1601C>A (p.Thr534Asn) c.1853C>A (p.Thr618Asn) c.1502C>A (p.Thr501Asn) | gnomAD v4 |
| 1 | g.155290604T>A | CA342748204 | PKLR | c.1693A>T (p.Thr565Ser) c.1600A>T (p.Thr534Ser) c.1852A>T (p.Thr618Ser) c.1501A>T (p.Thr501Ser) | |
| 1 | g.155290604T>C | CA342748209 | PKLR | c.1693A>G (p.Thr565Ala) c.1600A>G (p.Thr534Ala) c.1852A>G (p.Thr618Ala) c.1501A>G (p.Thr501Ala) | |
| 1 | g.155290604T>G | CA342748207 | PKLR | c.1693A>C (p.Thr565Pro) c.1600A>C (p.Thr534Pro) c.1852A>C (p.Thr618Pro) c.1501A>C (p.Thr501Pro) | |
| 1 | g.155290605G>A | CA421019270 | PKLR | c.1692C>T (p.Tyr564=) c.1599C>T (p.Tyr533=) c.1851C>T (p.Tyr617=) c.1500C>T (p.Tyr500=) | |
| 1 | g.155290605G>C | CA342748212 | PKLR | c.1692C>G (p.Tyr564Ter) c.1599C>G (p.Tyr533Ter) c.1851C>G (p.Tyr617Ter) c.1500C>G (p.Tyr500Ter) | |
| 1 | g.155290605G>T | CA342748215 | PKLR | c.1692C>A (p.Tyr564Ter) c.1599C>A (p.Tyr533Ter) c.1851C>A (p.Tyr617Ter) c.1500C>A (p.Tyr500Ter) | |
| 1 | g.155290606T>A | CA342748216 | PKLR | c.1691A>T (p.Tyr564Phe) c.1598A>T (p.Tyr533Phe) c.1850A>T (p.Tyr617Phe) c.1499A>T (p.Tyr500Phe) | |
| 1 | g.155290606T>C | CA342748218 | PKLR | c.1691A>G (p.Tyr564Cys) c.1598A>G (p.Tyr533Cys) c.1850A>G (p.Tyr617Cys) c.1499A>G (p.Tyr500Cys) | |
| 1 | g.155290606T>G | CA342748220 | PKLR | c.1691A>C (p.Tyr564Ser) c.1598A>C (p.Tyr533Ser) c.1850A>C (p.Tyr617Ser) c.1499A>C (p.Tyr500Ser) | |
| 1 | g.155290606_155290612delinsTAGCCGG | CA2481224810 | PKLR | c.1685_1691delinsCCGGCTA (p.Ser562=) c.1592_1598delinsCCGGCTA (p.Ser531=) c.1844_1850delinsCCGGCTA (p.Ser615=) c.1493_1499delinsCCGGCTA (p.Ser498=) | |
| 1 | g.155290607A>C | CA342748223 | PKLR | c.1690T>G (p.Tyr564Asp) c.1597T>G (p.Tyr533Asp) c.1849T>G (p.Tyr617Asp) c.1498T>G (p.Tyr500Asp) | |
| 1 | g.155290607A>G | CA342748225 | PKLR | c.1690T>C (p.Tyr564His) c.1597T>C (p.Tyr533His) c.1849T>C (p.Tyr617His) c.1498T>C (p.Tyr500His) | |
| 1 | g.155290607A>T | CA342748228 | PKLR | c.1690T>A (p.Tyr564Asn) c.1597T>A (p.Tyr533Asn) c.1849T>A (p.Tyr617Asn) c.1498T>A (p.Tyr500Asn) | |
| 1 | g.155290611_155290616del | CA889655239 | PKLR | c.1685_1690del (p.Ser562_Gly563del) c.1592_1597del (p.Ser531_Gly532del) c.1844_1849del (p.Ser615_Gly616del) c.1493_1498del (p.Ser498_Gly499del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155290608G>A | CA421019279 | PKLR | c.1689C>T (p.Gly563=) c.1596C>T (p.Gly532=) c.1848C>T (p.Gly616=) c.1497C>T (p.Gly499=) | |
| 1 | g.155290608G>C | CA421019281 | PKLR | c.1689C>G (p.Gly563=) c.1596C>G (p.Gly532=) c.1848C>G (p.Gly616=) c.1497C>G (p.Gly499=) | gnomAD v4 |
| 1 | g.155290608G>T | CA421019283 | PKLR | c.1689C>A (p.Gly563=) c.1596C>A (p.Gly532=) c.1848C>A (p.Gly616=) c.1497C>A (p.Gly499=) | |
| 1 | g.155290608_155290609insAT | CA2527308621 | PKLR | c.1688_1689insAT (p.Tyr564SerfsTer9) c.1595_1596insAT (p.Tyr533SerfsTer9) c.1847_1848insAT (p.Tyr617SerfsTer9) c.1496_1497insAT (p.Tyr500SerfsTer9) | |
| 1 | g.155290609C>A | CA342748230 | PKLR | c.1688G>T (p.Gly563Val) c.1595G>T (p.Gly532Val) c.1847G>T (p.Gly616Val) c.1496G>T (p.Gly499Val) | |
| 1 | g.155290609C= | CA2481224811 | PKLR | c.1688G= (p.Gly563=) c.1595G= (p.Gly532=) c.1847G= (p.Gly616=) c.1496G= (p.Gly499=) | |
| 1 | g.155290609C>G | CA342748232 | PKLR | c.1688G>C (p.Gly563Ala) c.1595G>C (p.Gly532Ala) c.1847G>C (p.Gly616Ala) c.1496G>C (p.Gly499Ala) | |
| 1 | g.155290609C>T | CA342748234 | PKLR | c.1688G>A (p.Gly563Asp) c.1595G>A (p.Gly532Asp) c.1847G>A (p.Gly616Asp) c.1496G>A (p.Gly499Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155290609_155290610insT | CA2514204456 | PKLR | c.1687_1688insA (p.Gly563GlufsTer?) c.1594_1595insA (p.Gly532GlufsTer?) c.1846_1847insA (p.Gly616GlufsTer?) c.1495_1496insA (p.Gly499GlufsTer?) | |
| 1 | g.155290610C>A | CA342748245 | PKLR | c.1687G>T (p.Gly563Cys) c.1594G>T (p.Gly532Cys) c.1846G>T (p.Gly616Cys) c.1495G>T (p.Gly499Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290610C= | CA2481224812 | PKLR | c.1687G= (p.Gly563=) c.1594G= (p.Gly532=) c.1846G= (p.Gly616=) c.1495G= (p.Gly499=) | |
| 1 | g.155290610C>G | CA342748240 | PKLR | c.1687G>C (p.Gly563Arg) c.1594G>C (p.Gly532Arg) c.1846G>C (p.Gly616Arg) c.1495G>C (p.Gly499Arg) | |
| 1 | g.155290610C>T | CA30899330 | PKLR | c.1687G>A (p.Gly563Ser) c.1594G>A (p.Gly532Ser) c.1846G>A (p.Gly616Ser) c.1495G>A (p.Gly499Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.155290611G>A | CA1143924 | PKLR | c.1686C>T (p.Ser562=) c.1593C>T (p.Ser531=) c.1845C>T (p.Ser615=) c.1494C>T (p.Ser498=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290611G>C | CA421019296 | PKLR | c.1686C>G (p.Ser562=) c.1593C>G (p.Ser531=) c.1845C>G (p.Ser615=) c.1494C>G (p.Ser498=) | |
| 1 | g.155290611G= | CA1141768795 | PKLR | c.1686C= (p.Ser562=) c.1593C= (p.Ser531=) c.1845C= (p.Ser615=) c.1494C= (p.Ser498=) | |
| 1 | g.155290611G>T | CA1143925 | PKLR | c.1686C>A (p.Ser562=) c.1593C>A (p.Ser531=) c.1845C>A (p.Ser615=) c.1494C>A (p.Ser498=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155290612G>A | CA342748256 | PKLR | c.1685C>T (p.Ser562Phe) c.1592C>T (p.Ser531Phe) c.1844C>T (p.Ser615Phe) c.1493C>T (p.Ser498Phe) | |
| 1 | g.155290612G>C | CA342748259 | PKLR | c.1685C>G (p.Ser562Cys) c.1592C>G (p.Ser531Cys) c.1844C>G (p.Ser615Cys) c.1493C>G (p.Ser498Cys) | |
| 1 | g.155290612G>T | CA342748260 | PKLR | c.1685C>A (p.Ser562Tyr) c.1592C>A (p.Ser531Tyr) c.1844C>A (p.Ser615Tyr) c.1493C>A (p.Ser498Tyr) | gnomAD v4 |
| 1 | g.155290613A>C | CA342748262 | PKLR | c.1684T>G (p.Ser562Ala) c.1591T>G (p.Ser531Ala) c.1843T>G (p.Ser615Ala) c.1492T>G (p.Ser498Ala) | |
| 1 | g.155290613A>G | CA342748265 | PKLR | c.1684T>C (p.Ser562Pro) c.1591T>C (p.Ser531Pro) c.1843T>C (p.Ser615Pro) c.1492T>C (p.Ser498Pro) | |
| 1 | g.155290613A>T | CA342748270 | PKLR | c.1684T>A (p.Ser562Thr) c.1591T>A (p.Ser531Thr) c.1843T>A (p.Ser615Thr) c.1492T>A (p.Ser498Thr) | |
| 1 | g.155290615_155290618del | CA2510661402 | PKLR | c.1681_1684del (p.Gly561ProfsTer10) c.1588_1591del (p.Gly530ProfsTer10) c.1840_1843del (p.Gly614ProfsTer10) c.1489_1492del (p.Gly497ProfsTer10) | |
| 1 | g.155290613_155290621delinsAGCCAGGTC | CA2481224813 | PKLR | c.1676_1684delinsGACCTGGCT (p.Arg559=) c.1583_1591delinsGACCTGGCT (p.Arg528=) c.1835_1843delinsGACCTGGCT (p.Arg612=) c.1484_1492delinsGACCTGGCT (p.Arg495=) | |
| 1 | g.155290614G>A | CA421019305 | PKLR | c.1683C>T (p.Gly561=) c.1590C>T (p.Gly530=) c.1842C>T (p.Gly614=) c.1491C>T (p.Gly497=) | |
| 1 | g.155290614G>C | CA421019307 | PKLR | c.1683C>G (p.Gly561=) c.1590C>G (p.Gly530=) c.1842C>G (p.Gly614=) c.1491C>G (p.Gly497=) | |
| 1 | g.155290614G>T | CA421019309 | PKLR | c.1683C>A (p.Gly561=) c.1590C>A (p.Gly530=) c.1842C>A (p.Gly614=) c.1491C>A (p.Gly497=) | |
| 1 | g.155290619_155290626del | CA1143926 | PKLR | c.1676_1683del (p.Arg559LeufsTer?) c.1583_1590del (p.Arg528LeufsTer?) c.1835_1842del (p.Arg612LeufsTer?) c.1484_1491del (p.Arg495LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290615C>A | CA342748287 | PKLR | c.1682G>T (p.Gly561Val) c.1589G>T (p.Gly530Val) c.1841G>T (p.Gly614Val) c.1490G>T (p.Gly497Val) | |
| 1 | g.155290615C>G | CA342748285 | PKLR | c.1682G>C (p.Gly561Ala) c.1589G>C (p.Gly530Ala) c.1841G>C (p.Gly614Ala) c.1490G>C (p.Gly497Ala) | |
| 1 | g.155290615C>T | CA342748283 | PKLR | c.1682G>A (p.Gly561Asp) c.1589G>A (p.Gly530Asp) c.1841G>A (p.Gly614Asp) c.1490G>A (p.Gly497Asp) | |
| 1 | g.155290616C>A | CA342748291 | PKLR | c.1681G>T (p.Gly561Cys) c.1588G>T (p.Gly530Cys) c.1840G>T (p.Gly614Cys) c.1489G>T (p.Gly497Cys) | |
| 1 | g.155290616C>G | CA342748294 | PKLR | c.1681G>C (p.Gly561Arg) c.1588G>C (p.Gly530Arg) c.1840G>C (p.Gly614Arg) c.1489G>C (p.Gly497Arg) | |
| 1 | g.155290616C>T | CA342748296 | PKLR | c.1681G>A (p.Gly561Ser) c.1588G>A (p.Gly530Ser) c.1840G>A (p.Gly614Ser) c.1489G>A (p.Gly497Ser) | |
| 1 | g.155290617A= | CA2481224814 | PKLR | c.1680T= (p.Pro560=) c.1587T= (p.Pro529=) c.1839T= (p.Pro613=) c.1488T= (p.Pro496=) | |
| 1 | g.155290617A>C | CA421019320 | PKLR | c.1680T>G (p.Pro560=) c.1587T>G (p.Pro529=) c.1839T>G (p.Pro613=) c.1488T>G (p.Pro496=) | |
| 1 | g.155290617A>G | CA421019322 | PKLR | c.1680T>C (p.Pro560=) c.1587T>C (p.Pro529=) c.1839T>C (p.Pro613=) c.1488T>C (p.Pro496=) | dbSNP |
| 1 | g.155290617A>T | CA421019324 | PKLR | c.1680T>A (p.Pro560=) c.1587T>A (p.Pro529=) c.1839T>A (p.Pro613=) c.1488T>A (p.Pro496=) | gnomAD v3 gnomAD v4 |
| 1 | g.155290618G>A | CA342748304 | PKLR | c.1679C>T (p.Pro560Leu) c.1586C>T (p.Pro529Leu) c.1838C>T (p.Pro613Leu) c.1487C>T (p.Pro496Leu) | |
| 1 | g.155290618G>C | CA342748306 | PKLR | c.1679C>G (p.Pro560Arg) c.1586C>G (p.Pro529Arg) c.1838C>G (p.Pro613Arg) c.1487C>G (p.Pro496Arg) | |
| 1 | g.155290618G>T | CA342748317 | PKLR | c.1679C>A (p.Pro560His) c.1586C>A (p.Pro529His) c.1838C>A (p.Pro613His) c.1487C>A (p.Pro496His) | |
| 1 | g.155290619G>A | CA342748320 | PKLR | c.1678C>T (p.Pro560Ser) c.1585C>T (p.Pro529Ser) c.1837C>T (p.Pro613Ser) c.1486C>T (p.Pro496Ser) | |
| 1 | g.155290619G>C | CA342748326 | PKLR | c.1678C>G (p.Pro560Ala) c.1585C>G (p.Pro529Ala) c.1837C>G (p.Pro613Ala) c.1486C>G (p.Pro496Ala) | |
| 1 | g.155290619G>T | CA342748329 | PKLR | c.1678C>A (p.Pro560Thr) c.1585C>A (p.Pro529Thr) c.1837C>A (p.Pro613Thr) c.1486C>A (p.Pro496Thr) | gnomAD v4 |
| 1 | g.155290620T>A | CA421019331 | PKLR | c.1677A>T (p.Arg559=) c.1584A>T (p.Arg528=) c.1836A>T (p.Arg612=) c.1485A>T (p.Arg495=) | |
| 1 | g.155290620T>C | CA421019334 | PKLR | c.1677A>G (p.Arg559=) c.1584A>G (p.Arg528=) c.1836A>G (p.Arg612=) c.1485A>G (p.Arg495=) | |
| 1 | g.155290620T>G | CA421019336 | PKLR | c.1677A>C (p.Arg559=) c.1584A>C (p.Arg528=) c.1836A>C (p.Arg612=) c.1485A>C (p.Arg495=) | |
| 1 | g.155290621C>A | CA342748333 | PKLR | c.1676G>T (p.Arg559Leu) c.1583G>T (p.Arg528Leu) c.1835G>T (p.Arg612Leu) c.1484G>T (p.Arg495Leu) | |
| 1 | g.155290621C= | CA2481224815 | PKLR | c.1676G= (p.Arg559=) c.1583G= (p.Arg528=) c.1835G= (p.Arg612=) c.1484G= (p.Arg495=) | |
| 1 | g.155290621C>G | CA342748335 | PKLR | c.1676G>C (p.Arg559Pro) c.1583G>C (p.Arg528Pro) c.1835G>C (p.Arg612Pro) c.1484G>C (p.Arg495Pro) | ClinVar |
| 1 | g.155290621C>T | CA342748336 | PKLR | c.1676G>A (p.Arg559Gln) c.1583G>A (p.Arg528Gln) c.1835G>A (p.Arg612Gln) c.1484G>A (p.Arg495Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155290622G>A | CA1143927 | PKLR | c.1675C>T (p.Arg559Ter) c.1582C>T (p.Arg528Ter) c.1834C>T (p.Arg612Ter) c.1483C>T (p.Arg495Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155290622G>C | CA342748341 | PKLR | c.1675C>G (p.Arg559Gly) c.1582C>G (p.Arg528Gly) c.1834C>G (p.Arg612Gly) c.1483C>G (p.Arg495Gly) | ClinVar |
| 1 | g.155290622G= | CA1144613757 | PKLR | c.1675C= (p.Arg559=) c.1582C= (p.Arg528=) c.1834C= (p.Arg612=) c.1483C= (p.Arg495=) | |
| 1 | g.155290622G>T | CA421019345 | PKLR | c.1675C>A (p.Arg559=) c.1582C>A (p.Arg528=) c.1834C>A (p.Arg612=) c.1483C>A (p.Arg495=) | gnomAD v4 |
| 1 | g.155290623C>A | CA342748347 | PKLR | c.1674G>T (p.Trp558Cys) c.1581G>T (p.Trp527Cys) c.1833G>T (p.Trp611Cys) c.1482G>T (p.Trp494Cys) | |
| 1 | g.155290623C>G | CA342748351 | PKLR | c.1674G>C (p.Trp558Cys) c.1581G>C (p.Trp527Cys) c.1833G>C (p.Trp611Cys) c.1482G>C (p.Trp494Cys) | |
| 1 | g.155290623C>T | CA342748352 | PKLR | c.1674G>A (p.Trp558Ter) c.1581G>A (p.Trp527Ter) c.1833G>A (p.Trp611Ter) c.1482G>A (p.Trp494Ter) | |
| 1 | g.155290624C>A | CA342748353 | PKLR | c.1673G>T (p.Trp558Leu) c.1580G>T (p.Trp527Leu) c.1832G>T (p.Trp611Leu) c.1481G>T (p.Trp494Leu) | |
| 1 | g.155290624C= | CA1143762595 | PKLR | c.1673G= (p.Trp558=) c.1580G= (p.Trp527=) c.1832G= (p.Trp611=) c.1481G= (p.Trp494=) | |
| 1 | g.155290624C>G | CA342748354 | PKLR | c.1673G>C (p.Trp558Ser) c.1580G>C (p.Trp527Ser) c.1832G>C (p.Trp611Ser) c.1481G>C (p.Trp494Ser) | |
| 1 | g.155290624C>T | CA1143928 | PKLR | c.1673G>A (p.Trp558Ter) c.1580G>A (p.Trp527Ter) c.1832G>A (p.Trp611Ter) c.1481G>A (p.Trp494Ter) | dbSNP ExAC gnomAD v2 |
| 1 | g.155290625A>C | CA342748359 | PKLR | c.1672T>G (p.Trp558Gly) c.1579T>G (p.Trp527Gly) c.1831T>G (p.Trp611Gly) c.1480T>G (p.Trp494Gly) | |
| 1 | g.155290625A>G | CA342748361 | PKLR | c.1672T>C (p.Trp558Arg) c.1579T>C (p.Trp527Arg) c.1831T>C (p.Trp611Arg) c.1480T>C (p.Trp494Arg) | |
| 1 | g.155290625A>T | CA342748364 | PKLR | c.1672T>A (p.Trp558Arg) c.1579T>A (p.Trp527Arg) c.1831T>A (p.Trp611Arg) c.1480T>A (p.Trp494Arg) | |
| 1 | g.155290625_155290629del | CA2525498094 | PKLR | c.1668_1672del (p.Gly557AlafsTer?) c.1575_1579del (p.Gly526AlafsTer?) c.1827_1831del (p.Gly610AlafsTer?) c.1476_1480del (p.Gly493AlafsTer?) | |
| 1 | g.155290626G>A | CA421019361 | PKLR | c.1671C>T (p.Gly557=) c.1578C>T (p.Gly526=) c.1830C>T (p.Gly610=) c.1479C>T (p.Gly493=) | |
| 1 | g.155290626G>C | CA421019363 | PKLR | c.1671C>G (p.Gly557=) c.1578C>G (p.Gly526=) c.1830C>G (p.Gly610=) c.1479C>G (p.Gly493=) | |
| 1 | g.155290626G= | CA2481224816 | PKLR | c.1671C= (p.Gly557=) c.1578C= (p.Gly526=) c.1830C= (p.Gly610=) c.1479C= (p.Gly493=) | |
| 1 | g.155290626G>T | CA421019365 | PKLR | c.1671C>A (p.Gly557=) c.1578C>A (p.Gly526=) c.1830C>A (p.Gly610=) c.1479C>A (p.Gly493=) | dbSNP gnomAD v2 |
| 1 | g.155290627C>A | CA342748370 | PKLR | c.1670G>T (p.Gly557Val) c.1577G>T (p.Gly526Val) c.1829G>T (p.Gly610Val) c.1478G>T (p.Gly493Val) | |
| 1 | g.155290627C= | CA2481224817 | PKLR | c.1670G= (p.Gly557=) c.1577G= (p.Gly526=) c.1829G= (p.Gly610=) c.1478G= (p.Gly493=) | |
| 1 | g.155290627C>G | CA342748374 | PKLR | c.1670G>C (p.Gly557Ala) c.1577G>C (p.Gly526Ala) c.1829G>C (p.Gly610Ala) c.1478G>C (p.Gly493Ala) | ClinVar dbSNP gnomAD v4 |
| 1 | g.155290627C>T | CA342748379 | PKLR | c.1670G>A (p.Gly557Asp) c.1577G>A (p.Gly526Asp) c.1829G>A (p.Gly610Asp) c.1478G>A (p.Gly493Asp) | gnomAD v4 |
| 1 | g.155290628C>A | CA342748384 | PKLR | c.1669G>T (p.Gly557Cys) c.1576G>T (p.Gly526Cys) c.1828G>T (p.Gly610Cys) c.1477G>T (p.Gly493Cys) | |
| 1 | g.155290628C= | CA2481224818 | PKLR | c.1669G= (p.Gly557=) c.1576G= (p.Gly526=) c.1828G= (p.Gly610=) c.1477G= (p.Gly493=) | |
| 1 | g.155290628C>G | CA342748387 | PKLR | c.1669G>C (p.Gly557Arg) c.1576G>C (p.Gly526Arg) c.1828G>C (p.Gly610Arg) c.1477G>C (p.Gly493Arg) | |
| 1 | g.155290628C>T | CA342748381 | PKLR | c.1669G>A (p.Gly557Ser) c.1576G>A (p.Gly526Ser) c.1828G>A (p.Gly610Ser) c.1477G>A (p.Gly493Ser) | dbSNP |
| 1 | g.155290629T>A | CA421019375 | PKLR | c.1668A>T (p.Thr556=) c.1575A>T (p.Thr525=) c.1827A>T (p.Thr609=) c.1476A>T (p.Thr492=) | |
| 1 | g.155290629T>C | CA421019377 | PKLR | c.1668A>G (p.Thr556=) c.1575A>G (p.Thr525=) c.1827A>G (p.Thr609=) c.1476A>G (p.Thr492=) | |
| 1 | g.155290629T>G | CA421019380 | PKLR | c.1668A>C (p.Thr556=) c.1575A>C (p.Thr525=) c.1827A>C (p.Thr609=) c.1476A>C (p.Thr492=) | |
| 1 | g.155290630G>A | CA342748401 | PKLR | c.1667C>T (p.Thr556Ile) c.1574C>T (p.Thr525Ile) c.1826C>T (p.Thr609Ile) c.1475C>T (p.Thr492Ile) | |
| 1 | g.155290630G>C | CA342748389 | PKLR | c.1667C>G (p.Thr556Arg) c.1574C>G (p.Thr525Arg) c.1826C>G (p.Thr609Arg) c.1475C>G (p.Thr492Arg) | |
| 1 | g.155290630G>T | CA342748399 | PKLR | c.1667C>A (p.Thr556Lys) c.1574C>A (p.Thr525Lys) c.1826C>A (p.Thr609Lys) c.1475C>A (p.Thr492Lys) |