Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.132661528T>ACA387393523POLEc.484A>T (p.Arg162Trp)
c.2717A>T
c.2863A>T (p.Arg955Trp)
c.*2365A>T (n.*2365A>T)
c.2782A>T (p.Arg928Trp)
c.*1910A>T (n.*1910A>T)
c.2734A>T (p.Arg912Trp)
c.1942A>T (p.Arg648Trp)
c.1525A>T (p.Arg509Trp)
n.3072A>T
n.3067A>T
 dbSNP
12g.132661528T>CCA387393524POLEc.484A>G (p.Arg162Gly)
c.2717A>G
c.2863A>G (p.Arg955Gly)
c.*2365A>G (n.*2365A>G)
c.2782A>G (p.Arg928Gly)
c.*1910A>G (n.*1910A>G)
c.2734A>G (p.Arg912Gly)
c.1942A>G (p.Arg648Gly)
c.1525A>G (p.Arg509Gly)
n.3072A>G
n.3067A>G
 ClinVar dbSNP
12g.132661528T>GCA482735492POLEc.484A>C (p.Arg162=)
c.2717A>C
c.2863A>C (p.Arg955=)
c.*2365A>C (n.*2365A>C)
c.2782A>C (p.Arg928=)
c.*1910A>C (n.*1910A>C)
c.2734A>C (p.Arg912=)
c.1942A>C (p.Arg648=)
c.1525A>C (p.Arg509=)
n.3072A>C
n.3067A>C
12g.132661528T=CA2072995639POLEc.484A= (p.Arg162=)
c.2717A=
c.2863A= (p.Arg955=)
c.*2365A= (n.*2365A=)
c.2782A= (p.Arg928=)
c.*1910A= (n.*1910A=)
c.2734A= (p.Arg912=)
c.1942A= (p.Arg648=)
c.1525A= (p.Arg509=)
n.3072A=
n.3067A=
12g.132661533_132661535delCA2622056706POLEc.482_484del (p.Lys161del)
c.2715_2717del
c.2861_2863del (p.Lys954del)
c.*2363_*2365del (n.*2363_*2365del)
c.2780_2782del (p.Lys927del)
c.*1908_*1910del (n.*1908_*1910del)
c.2732_2734del (p.Lys911del)
c.1940_1942del (p.Lys647del)
c.1523_1525del (p.Lys508del)
n.3070_3072del
n.3065_3067del
 gnomAD v4
12g.132661529C>ACA387393525POLEc.483G>T (p.Lys161Asn)
c.2716G>T
c.2862G>T (p.Lys954Asn)
c.*2364G>T (n.*2364G>T)
c.2781G>T (p.Lys927Asn)
c.*1909G>T (n.*1909G>T)
c.2733G>T (p.Lys911Asn)
c.1941G>T (p.Lys647Asn)
c.1524G>T (p.Lys508Asn)
n.3071G>T
n.3066G>T
 dbSNP
12g.132661529C>GCA387393526POLEc.483G>C (p.Lys161Asn)
c.2716G>C
c.2862G>C (p.Lys954Asn)
c.*2364G>C (n.*2364G>C)
c.2781G>C (p.Lys927Asn)
c.*1909G>C (n.*1909G>C)
c.2733G>C (p.Lys911Asn)
c.1941G>C (p.Lys647Asn)
c.1524G>C (p.Lys508Asn)
n.3071G>C
n.3066G>C
 dbSNP
12g.132661529C>TCA482735493POLEc.483G>A (p.Lys161=)
c.2716G>A
c.2862G>A (p.Lys954=)
c.*2364G>A (n.*2364G>A)
c.2781G>A (p.Lys927=)
c.*1909G>A (n.*1909G>A)
c.2733G>A (p.Lys911=)
c.1941G>A (p.Lys647=)
c.1524G>A (p.Lys508=)
n.3071G>A
n.3066G>A
 dbSNP
12g.132661530T>ACA387393527POLEc.482A>T (p.Lys161Met)
c.2715A>T
c.2861A>T (p.Lys954Met)
c.*2363A>T (n.*2363A>T)
c.2780A>T (p.Lys927Met)
c.*1908A>T (n.*1908A>T)
c.2732A>T (p.Lys911Met)
c.1940A>T (p.Lys647Met)
c.1523A>T (p.Lys508Met)
n.3070A>T
n.3065A>T
12g.132661530T>CCA387393529POLEc.482A>G (p.Lys161Arg)
c.2715A>G
c.2861A>G (p.Lys954Arg)
c.*2363A>G (n.*2363A>G)
c.2780A>G (p.Lys927Arg)
c.*1908A>G (n.*1908A>G)
c.2732A>G (p.Lys911Arg)
c.1940A>G (p.Lys647Arg)
c.1523A>G (p.Lys508Arg)
n.3070A>G
n.3065A>G
 dbSNP
12g.132661530T>GCA387393531POLEc.482A>C (p.Lys161Thr)
c.2715A>C
c.2861A>C (p.Lys954Thr)
c.*2363A>C (n.*2363A>C)
c.2780A>C (p.Lys927Thr)
c.*1908A>C (n.*1908A>C)
c.2732A>C (p.Lys911Thr)
c.1940A>C (p.Lys647Thr)
c.1523A>C (p.Lys508Thr)
n.3070A>C
n.3065A>C
12g.132661531T>ACA387393535POLEc.481A>T (p.Lys161Ter)
c.2714A>T
c.2860A>T (p.Lys954Ter)
c.*2362A>T (n.*2362A>T)
c.2779A>T (p.Lys927Ter)
c.*1907A>T (n.*1907A>T)
c.2731A>T (p.Lys911Ter)
c.1939A>T (p.Lys647Ter)
c.1522A>T (p.Lys508Ter)
n.3069A>T
n.3064A>T
12g.132661531T>CCA387393537POLEc.481A>G (p.Lys161Glu)
c.2714A>G
c.2860A>G (p.Lys954Glu)
c.*2362A>G (n.*2362A>G)
c.2779A>G (p.Lys927Glu)
c.*1907A>G (n.*1907A>G)
c.2731A>G (p.Lys911Glu)
c.1939A>G (p.Lys647Glu)
c.1522A>G (p.Lys508Glu)
n.3069A>G
n.3064A>G
12g.132661531T>GCA387393538POLEc.481A>C (p.Lys161Gln)
c.2714A>C
c.2860A>C (p.Lys954Gln)
c.*2362A>C (n.*2362A>C)
c.2779A>C (p.Lys927Gln)
c.*1907A>C (n.*1907A>C)
c.2731A>C (p.Lys911Gln)
c.1939A>C (p.Lys647Gln)
c.1522A>C (p.Lys508Gln)
n.3069A>C
n.3064A>C
12g.132661532C>ACA387393540POLEc.480G>T (p.Lys160Asn)
c.2713G>T
c.2859G>T (p.Lys953Asn)
c.*2361G>T (n.*2361G>T)
c.2778G>T (p.Lys926Asn)
c.*1906G>T (n.*1906G>T)
c.2730G>T (p.Lys910Asn)
c.1938G>T (p.Lys646Asn)
c.1521G>T (p.Lys507Asn)
n.3068G>T
n.3063G>T
 dbSNP
12g.132661532C>GCA387393541POLEc.480G>C (p.Lys160Asn)
c.2713G>C
c.2859G>C (p.Lys953Asn)
c.*2361G>C (n.*2361G>C)
c.2778G>C (p.Lys926Asn)
c.*1906G>C (n.*1906G>C)
c.2730G>C (p.Lys910Asn)
c.1938G>C (p.Lys646Asn)
c.1521G>C (p.Lys507Asn)
n.3068G>C
n.3063G>C
 dbSNP
12g.132661532C>TCA482735496POLEc.480G>A (p.Lys160=)
c.2713G>A
c.2859G>A (p.Lys953=)
c.*2361G>A (n.*2361G>A)
c.2778G>A (p.Lys926=)
c.*1906G>A (n.*1906G>A)
c.2730G>A (p.Lys910=)
c.1938G>A (p.Lys646=)
c.1521G>A (p.Lys507=)
n.3068G>A
n.3063G>A
 ClinVar dbSNP
12g.132661533T>ACA387393547POLEc.479A>T (p.Lys160Met)
c.2712A>T
c.2858A>T (p.Lys953Met)
c.*2360A>T (n.*2360A>T)
c.2777A>T (p.Lys926Met)
c.*1905A>T (n.*1905A>T)
c.2729A>T (p.Lys910Met)
c.1937A>T (p.Lys646Met)
c.1520A>T (p.Lys507Met)
n.3067A>T
n.3062A>T
12g.132661533T>CCA387393546POLEc.479A>G (p.Lys160Arg)
c.2712A>G
c.2858A>G (p.Lys953Arg)
c.*2360A>G (n.*2360A>G)
c.2777A>G (p.Lys926Arg)
c.*1905A>G (n.*1905A>G)
c.2729A>G (p.Lys910Arg)
c.1937A>G (p.Lys646Arg)
c.1520A>G (p.Lys507Arg)
n.3067A>G
n.3062A>G
 ClinVar
12g.132661533T>GCA387393545POLEc.479A>C (p.Lys160Thr)
c.2712A>C
c.2858A>C (p.Lys953Thr)
c.*2360A>C (n.*2360A>C)
c.2777A>C (p.Lys926Thr)
c.*1905A>C (n.*1905A>C)
c.2729A>C (p.Lys910Thr)
c.1937A>C (p.Lys646Thr)
c.1520A>C (p.Lys507Thr)
n.3067A>C
n.3062A>C
 gnomAD v4
12g.132661534T>ACA387393549POLEc.478A>T (p.Lys160Ter)
c.2711A>T
c.2857A>T (p.Lys953Ter)
c.*2359A>T (n.*2359A>T)
c.2776A>T (p.Lys926Ter)
c.*1904A>T (n.*1904A>T)
c.2728A>T (p.Lys910Ter)
c.1936A>T (p.Lys646Ter)
c.1519A>T (p.Lys507Ter)
n.3066A>T
n.3061A>T
 dbSNP
12g.132661534T>CCA387393551POLEc.478A>G (p.Lys160Glu)
c.2711A>G
c.2857A>G (p.Lys953Glu)
c.*2359A>G (n.*2359A>G)
c.2776A>G (p.Lys926Glu)
c.*1904A>G (n.*1904A>G)
c.2728A>G (p.Lys910Glu)
c.1936A>G (p.Lys646Glu)
c.1519A>G (p.Lys507Glu)
n.3066A>G
n.3061A>G
 dbSNP
12g.132661534T>GCA387393553POLEc.478A>C (p.Lys160Gln)
c.2711A>C
c.2857A>C (p.Lys953Gln)
c.*2359A>C (n.*2359A>C)
c.2776A>C (p.Lys926Gln)
c.*1904A>C (n.*1904A>C)
c.2728A>C (p.Lys910Gln)
c.1936A>C (p.Lys646Gln)
c.1519A>C (p.Lys507Gln)
n.3066A>C
n.3061A>C
12g.132661535C>ACA387393554POLEc.477G>T (p.Leu159Phe)
c.2710G>T
c.2856G>T (p.Leu952Phe)
c.*2358G>T (n.*2358G>T)
c.2775G>T (p.Leu925Phe)
c.*1903G>T (n.*1903G>T)
c.2727G>T (p.Leu909Phe)
c.1935G>T (p.Leu645Phe)
c.1518G>T (p.Leu506Phe)
n.3065G>T
n.3060G>T
 dbSNP
12g.132661535C=CA2072995640POLEc.477G= (p.Leu159=)
c.2710G=
c.2856G= (p.Leu952=)
c.*2358G= (n.*2358G=)
c.2775G= (p.Leu925=)
c.*1903G= (n.*1903G=)
c.2727G= (p.Leu909=)
c.1935G= (p.Leu645=)
c.1518G= (p.Leu506=)
n.3065G=
n.3060G=
12g.132661535C>GCA387393555POLEc.477G>C (p.Leu159Phe)
c.2710G>C
c.2856G>C (p.Leu952Phe)
c.*2358G>C (n.*2358G>C)
c.2775G>C (p.Leu925Phe)
c.*1903G>C (n.*1903G>C)
c.2727G>C (p.Leu909Phe)
c.1935G>C (p.Leu645Phe)
c.1518G>C (p.Leu506Phe)
n.3065G>C
n.3060G>C
 dbSNP
12g.132661535C>TCA482735500POLEc.477G>A (p.Leu159=)
c.2710G>A
c.2856G>A (p.Leu952=)
c.*2358G>A (n.*2358G>A)
c.2775G>A (p.Leu925=)
c.*1903G>A (n.*1903G>A)
c.2727G>A (p.Leu909=)
c.1935G>A (p.Leu645=)
c.1518G>A (p.Leu506=)
n.3065G>A
n.3060G>A
 dbSNP
12g.132661536A=CA2072995641POLEc.476T= (p.Leu159=)
c.2709T=
c.2855T= (p.Leu952=)
c.*2357T= (n.*2357T=)
c.2774T= (p.Leu925=)
c.*1902T= (n.*1902T=)
c.2726T= (p.Leu909=)
c.1934T= (p.Leu645=)
c.1517T= (p.Leu506=)
n.3064T=
n.3059T=
12g.132661536A>CCA387393556POLEc.476T>G (p.Leu159Trp)
c.2709T>G
c.2855T>G (p.Leu952Trp)
c.*2357T>G (n.*2357T>G)
c.2774T>G (p.Leu925Trp)
c.*1902T>G (n.*1902T>G)
c.2726T>G (p.Leu909Trp)
c.1934T>G (p.Leu645Trp)
c.1517T>G (p.Leu506Trp)
n.3064T>G
n.3059T>G
12g.132661536A>GCA387393557POLEc.476T>C (p.Leu159Ser)
c.2709T>C
c.2855T>C (p.Leu952Ser)
c.*2357T>C (n.*2357T>C)
c.2774T>C (p.Leu925Ser)
c.*1902T>C (n.*1902T>C)
c.2726T>C (p.Leu909Ser)
c.1934T>C (p.Leu645Ser)
c.1517T>C (p.Leu506Ser)
n.3064T>C
n.3059T>C
12g.132661536A>TCA6893438POLEc.476T>A (p.Leu159Ter)
c.2709T>A
c.2855T>A (p.Leu952Ter)
c.*2357T>A (n.*2357T>A)
c.2774T>A (p.Leu925Ter)
c.*1902T>A (n.*1902T>A)
c.2726T>A (p.Leu909Ter)
c.1934T>A (p.Leu645Ter)
c.1517T>A (p.Leu506Ter)
n.3064T>A
n.3059T>A
 dbSNP ExAC gnomAD v2
12g.132661537A>CCA387393558POLEc.475T>G (p.Leu159Val)
c.2708T>G
c.2854T>G (p.Leu952Val)
c.*2356T>G (n.*2356T>G)
c.2773T>G (p.Leu925Val)
c.*1901T>G (n.*1901T>G)
c.2725T>G (p.Leu909Val)
c.1933T>G (p.Leu645Val)
c.1516T>G (p.Leu506Val)
n.3063T>G
n.3058T>G
12g.132661537A>GCA482735504POLEc.475T>C (p.Leu159=)
c.2708T>C
c.2854T>C (p.Leu952=)
c.*2356T>C (n.*2356T>C)
c.2773T>C (p.Leu925=)
c.*1901T>C (n.*1901T>C)
c.2725T>C (p.Leu909=)
c.1933T>C (p.Leu645=)
c.1516T>C (p.Leu506=)
n.3063T>C
n.3058T>C
12g.132661537A>TCA387393559POLEc.475T>A (p.Leu159Met)
c.2708T>A
c.2854T>A (p.Leu952Met)
c.*2356T>A (n.*2356T>A)
c.2773T>A (p.Leu925Met)
c.*1901T>A (n.*1901T>A)
c.2725T>A (p.Leu909Met)
c.1933T>A (p.Leu645Met)
c.1516T>A (p.Leu506Met)
n.3063T>A
n.3058T>A
 dbSNP
12g.132661538T>ACA387393560POLEc.474A>T (p.Lys158Asn)
c.2707A>T
c.2853A>T (p.Lys951Asn)
c.*2355A>T (n.*2355A>T)
c.2772A>T (p.Lys924Asn)
c.*1900A>T (n.*1900A>T)
c.2724A>T (p.Lys908Asn)
c.1932A>T (p.Lys644Asn)
c.1515A>T (p.Lys505Asn)
n.3062A>T
n.3057A>T
12g.132661538T>CCA6893439POLEc.474A>G (p.Lys158=)
c.2707A>G
c.2853A>G (p.Lys951=)
c.*2355A>G (n.*2355A>G)
c.2772A>G (p.Lys924=)
c.*1900A>G (n.*1900A>G)
c.2724A>G (p.Lys908=)
c.1932A>G (p.Lys644=)
c.1515A>G (p.Lys505=)
n.3062A>G
n.3057A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.132661538T>GCA387393562POLEc.474A>C (p.Lys158Asn)
c.2707A>C
c.2853A>C (p.Lys951Asn)
c.*2355A>C (n.*2355A>C)
c.2772A>C (p.Lys924Asn)
c.*1900A>C (n.*1900A>C)
c.2724A>C (p.Lys908Asn)
c.1932A>C (p.Lys644Asn)
c.1515A>C (p.Lys505Asn)
n.3062A>C
n.3057A>C
12g.132661538T=CA2072995642POLEc.474A= (p.Lys158=)
c.2707A=
c.2853A= (p.Lys951=)
c.*2355A= (n.*2355A=)
c.2772A= (p.Lys924=)
c.*1900A= (n.*1900A=)
c.2724A= (p.Lys908=)
c.1932A= (p.Lys644=)
c.1515A= (p.Lys505=)
n.3062A=
n.3057A=
12g.132661539T>ACA387393569POLEc.473A>T (p.Lys158Ile)
c.2706A>T
c.2852A>T (p.Lys951Ile)
c.*2354A>T (n.*2354A>T)
c.2771A>T (p.Lys924Ile)
c.*1899A>T (n.*1899A>T)
c.2723A>T (p.Lys908Ile)
c.1931A>T (p.Lys644Ile)
c.1514A>T (p.Lys505Ile)
n.3061A>T
n.3056A>T
12g.132661539T>CCA387393567POLEc.473A>G (p.Lys158Arg)
c.2706A>G
c.2852A>G (p.Lys951Arg)
c.*2354A>G (n.*2354A>G)
c.2771A>G (p.Lys924Arg)
c.*1899A>G (n.*1899A>G)
c.2723A>G (p.Lys908Arg)
c.1931A>G (p.Lys644Arg)
c.1514A>G (p.Lys505Arg)
n.3061A>G
n.3056A>G
12g.132661539T>GCA387393565POLEc.473A>C (p.Lys158Thr)
c.2706A>C
c.2852A>C (p.Lys951Thr)
c.*2354A>C (n.*2354A>C)
c.2771A>C (p.Lys924Thr)
c.*1899A>C (n.*1899A>C)
c.2723A>C (p.Lys908Thr)
c.1931A>C (p.Lys644Thr)
c.1514A>C (p.Lys505Thr)
n.3061A>C
n.3056A>C
 ClinVar dbSNP gnomAD v4
12g.132661539T=CA2072995643POLEc.473A= (p.Lys158=)
c.2706A=
c.2852A= (p.Lys951=)
c.*2354A= (n.*2354A=)
c.2771A= (p.Lys924=)
c.*1899A= (n.*1899A=)
c.2723A= (p.Lys908=)
c.1931A= (p.Lys644=)
c.1514A= (p.Lys505=)
n.3061A=
n.3056A=
12g.132661540T>ACA387393570POLEc.472A>T (p.Lys158Ter)
c.2705A>T
c.2851A>T (p.Lys951Ter)
c.*2353A>T (n.*2353A>T)
c.2770A>T (p.Lys924Ter)
c.*1898A>T (n.*1898A>T)
c.2722A>T (p.Lys908Ter)
c.1930A>T (p.Lys644Ter)
c.1513A>T (p.Lys505Ter)
n.3060A>T
n.3055A>T
 dbSNP
12g.132661540T>CCA387393572POLEc.472A>G (p.Lys158Glu)
c.2705A>G
c.2851A>G (p.Lys951Glu)
c.*2353A>G (n.*2353A>G)
c.2770A>G (p.Lys924Glu)
c.*1898A>G (n.*1898A>G)
c.2722A>G (p.Lys908Glu)
c.1930A>G (p.Lys644Glu)
c.1513A>G (p.Lys505Glu)
n.3060A>G
n.3055A>G
12g.132661540T>GCA387393573POLEc.472A>C (p.Lys158Gln)
c.2705A>C
c.2851A>C (p.Lys951Gln)
c.*2353A>C (n.*2353A>C)
c.2770A>C (p.Lys924Gln)
c.*1898A>C (n.*1898A>C)
c.2722A>C (p.Lys908Gln)
c.1930A>C (p.Lys644Gln)
c.1513A>C (p.Lys505Gln)
n.3060A>C
n.3055A>C
12g.132661541C>ACA387393575POLEc.471G>T (p.Lys157Asn)
c.2704G>T
c.2850G>T (p.Lys950Asn)
c.*2352G>T (n.*2352G>T)
c.2769G>T (p.Lys923Asn)
c.*1897G>T (n.*1897G>T)
c.2721G>T (p.Lys907Asn)
c.1929G>T (p.Lys643Asn)
c.1512G>T (p.Lys504Asn)
n.3059G>T
n.3054G>T
 dbSNP
12g.132661541C>GCA387393577POLEc.471G>C (p.Lys157Asn)
c.2704G>C
c.2850G>C (p.Lys950Asn)
c.*2352G>C (n.*2352G>C)
c.2769G>C (p.Lys923Asn)
c.*1897G>C (n.*1897G>C)
c.2721G>C (p.Lys907Asn)
c.1929G>C (p.Lys643Asn)
c.1512G>C (p.Lys504Asn)
n.3059G>C
n.3054G>C
 dbSNP
12g.132661541C>TCA482735514POLEc.471G>A (p.Lys157=)
c.2704G>A
c.2850G>A (p.Lys950=)
c.*2352G>A (n.*2352G>A)
c.2769G>A (p.Lys923=)
c.*1897G>A (n.*1897G>A)
c.2721G>A (p.Lys907=)
c.1929G>A (p.Lys643=)
c.1512G>A (p.Lys504=)
n.3059G>A
n.3054G>A
 dbSNP
12g.132661542T>ACA387393578POLEc.470A>T (p.Lys157Met)
c.2703A>T
c.2849A>T (p.Lys950Met)
c.*2351A>T (n.*2351A>T)
c.2768A>T (p.Lys923Met)
c.*1896A>T (n.*1896A>T)
c.2720A>T (p.Lys907Met)
c.1928A>T (p.Lys643Met)
c.1511A>T (p.Lys504Met)
n.3058A>T
n.3053A>T
12g.132661542T>CCA387393580POLEc.470A>G (p.Lys157Arg)
c.2703A>G
c.2849A>G (p.Lys950Arg)
c.*2351A>G (n.*2351A>G)
c.2768A>G (p.Lys923Arg)
c.*1896A>G (n.*1896A>G)
c.2720A>G (p.Lys907Arg)
c.1928A>G (p.Lys643Arg)
c.1511A>G (p.Lys504Arg)
n.3058A>G
n.3053A>G
 ClinVar dbSNP
12g.132661542T>GCA387393581POLEc.470A>C (p.Lys157Thr)
c.2703A>C
c.2849A>C (p.Lys950Thr)
c.*2351A>C (n.*2351A>C)
c.2768A>C (p.Lys923Thr)
c.*1896A>C (n.*1896A>C)
c.2720A>C (p.Lys907Thr)
c.1928A>C (p.Lys643Thr)
c.1511A>C (p.Lys504Thr)
n.3058A>C
n.3053A>C
12g.132661543T>ACA387393582POLEc.469A>T (p.Lys157Ter)
c.2702A>T
c.2848A>T (p.Lys950Ter)
c.*2350A>T (n.*2350A>T)
c.2767A>T (p.Lys923Ter)
c.*1895A>T (n.*1895A>T)
c.2719A>T (p.Lys907Ter)
c.1927A>T (p.Lys643Ter)
c.1510A>T (p.Lys504Ter)
n.3057A>T
n.3052A>T
12g.132661543T>CCA387393583POLEc.469A>G (p.Lys157Glu)
c.2702A>G
c.2848A>G (p.Lys950Glu)
c.*2350A>G (n.*2350A>G)
c.2767A>G (p.Lys923Glu)
c.*1895A>G (n.*1895A>G)
c.2719A>G (p.Lys907Glu)
c.1927A>G (p.Lys643Glu)
c.1510A>G (p.Lys504Glu)
n.3057A>G
n.3052A>G
12g.132661543T>GCA387393585POLEc.469A>C (p.Lys157Gln)
c.2702A>C
c.2848A>C (p.Lys950Gln)
c.*2350A>C (n.*2350A>C)
c.2767A>C (p.Lys923Gln)
c.*1895A>C (n.*1895A>C)
c.2719A>C (p.Lys907Gln)
c.1927A>C (p.Lys643Gln)
c.1510A>C (p.Lys504Gln)
n.3057A>C
n.3052A>C
12g.132661544G>ACA482735518POLEc.468C>T (p.Gly156=)
c.2701C>T
c.2847C>T (p.Gly949=)
c.*2349C>T (n.*2349C>T)
c.2766C>T (p.Gly922=)
c.*1894C>T (n.*1894C>T)
c.2718C>T (p.Gly906=)
c.1926C>T (p.Gly642=)
c.1509C>T (p.Gly503=)
n.3056C>T
n.3051C>T
 ClinVar dbSNP gnomAD v4
12g.132661544G>CCA482735519POLEc.468C>G (p.Gly156=)
c.2701C>G
c.2847C>G (p.Gly949=)
c.*2349C>G (n.*2349C>G)
c.2766C>G (p.Gly922=)
c.*1894C>G (n.*1894C>G)
c.2718C>G (p.Gly906=)
c.1926C>G (p.Gly642=)
c.1509C>G (p.Gly503=)
n.3056C>G
n.3051C>G
 ClinVar dbSNP
12g.132661544G=CA2072995644POLEc.468C= (p.Gly156=)
c.2701C=
c.2847C= (p.Gly949=)
c.*2349C= (n.*2349C=)
c.2766C= (p.Gly922=)
c.*1894C= (n.*1894C=)
c.2718C= (p.Gly906=)
c.1926C= (p.Gly642=)
c.1509C= (p.Gly503=)
n.3056C=
n.3051C=
12g.132661544G>TCA482735521POLEc.468C>A (p.Gly156=)
c.2701C>A
c.2847C>A (p.Gly949=)
c.*2349C>A (n.*2349C>A)
c.2766C>A (p.Gly922=)
c.*1894C>A (n.*1894C>A)
c.2718C>A (p.Gly906=)
c.1926C>A (p.Gly642=)
c.1509C>A (p.Gly503=)
n.3056C>A
n.3051C>A
 dbSNP
12g.132661545C>ACA387393587POLEc.467G>T (p.Gly156Val)
c.2700G>T
c.2846G>T (p.Gly949Val)
c.*2348G>T (n.*2348G>T)
c.2765G>T (p.Gly922Val)
c.*1893G>T (n.*1893G>T)
c.2717G>T (p.Gly906Val)
c.1925G>T (p.Gly642Val)
c.1508G>T (p.Gly503Val)
n.3055G>T
n.3050G>T
 dbSNP
12g.132661545C=CA2072995645POLEc.467G= (p.Gly156=)
c.2700G=
c.2846G= (p.Gly949=)
c.*2348G= (n.*2348G=)
c.2765G= (p.Gly922=)
c.*1893G= (n.*1893G=)
c.2717G= (p.Gly906=)
c.1925G= (p.Gly642=)
c.1508G= (p.Gly503=)
n.3055G=
n.3050G=
12g.132661545C>GCA387393588POLEc.467G>C (p.Gly156Ala)
c.2700G>C
c.2846G>C (p.Gly949Ala)
c.*2348G>C (n.*2348G>C)
c.2765G>C (p.Gly922Ala)
c.*1893G>C (n.*1893G>C)
c.2717G>C (p.Gly906Ala)
c.1925G>C (p.Gly642Ala)
c.1508G>C (p.Gly503Ala)
n.3055G>C
n.3050G>C
 dbSNP
12g.132661545C>TCA387393590POLEc.467G>A (p.Gly156Asp)
c.2700G>A
c.2846G>A (p.Gly949Asp)
c.*2348G>A (n.*2348G>A)
c.2765G>A (p.Gly922Asp)
c.*1893G>A (n.*1893G>A)
c.2717G>A (p.Gly906Asp)
c.1925G>A (p.Gly642Asp)
c.1508G>A (p.Gly503Asp)
n.3055G>A
n.3050G>A
 dbSNP gnomAD v4
12g.132661546C>ACA387393593POLEc.466G>T (p.Gly156Cys)
c.2699G>T
c.2845G>T (p.Gly949Cys)
c.*2347G>T (n.*2347G>T)
c.2764G>T (p.Gly922Cys)
c.*1892G>T (n.*1892G>T)
c.2716G>T (p.Gly906Cys)
c.1924G>T (p.Gly642Cys)
c.1507G>T (p.Gly503Cys)
n.3054G>T
n.3049G>T
 dbSNP
12g.132661546C=CA2072995646POLEc.466G= (p.Gly156=)
c.2699G=
c.2845G= (p.Gly949=)
c.*2347G= (n.*2347G=)
c.2764G= (p.Gly922=)
c.*1892G= (n.*1892G=)
c.2716G= (p.Gly906=)
c.1924G= (p.Gly642=)
c.1507G= (p.Gly503=)
n.3054G=
n.3049G=
12g.132661546C>GCA387393595POLEc.466G>C (p.Gly156Arg)
c.2699G>C
c.2845G>C (p.Gly949Arg)
c.*2347G>C (n.*2347G>C)
c.2764G>C (p.Gly922Arg)
c.*1892G>C (n.*1892G>C)
c.2716G>C (p.Gly906Arg)
c.1924G>C (p.Gly642Arg)
c.1507G>C (p.Gly503Arg)
n.3054G>C
n.3049G>C
12g.132661546C>TCA387393592POLEc.466G>A (p.Gly156Ser)
c.2699G>A
c.2845G>A (p.Gly949Ser)
c.*2347G>A (n.*2347G>A)
c.2764G>A (p.Gly922Ser)
c.*1892G>A (n.*1892G>A)
c.2716G>A (p.Gly906Ser)
c.1924G>A (p.Gly642Ser)
c.1507G>A (p.Gly503Ser)
n.3054G>A
n.3049G>A
 ClinVar dbSNP
12g.132661547T>ACA387393596POLEc.465A>T (p.Glu155Asp)
c.2698A>T
c.2844A>T (p.Glu948Asp)
c.*2346A>T (n.*2346A>T)
c.2763A>T (p.Glu921Asp)
c.*1891A>T (n.*1891A>T)
c.2715A>T (p.Glu905Asp)
c.1923A>T (p.Glu641Asp)
c.1506A>T (p.Glu502Asp)
n.3053A>T
n.3048A>T
12g.132661547T>CCA482735526POLEc.465A>G (p.Glu155=)
c.2698A>G
c.2844A>G (p.Glu948=)
c.*2346A>G (n.*2346A>G)
c.2763A>G (p.Glu921=)
c.*1891A>G (n.*1891A>G)
c.2715A>G (p.Glu905=)
c.1923A>G (p.Glu641=)
c.1506A>G (p.Glu502=)
n.3053A>G
n.3048A>G
 dbSNP
12g.132661547T>GCA387393597POLEc.465A>C (p.Glu155Asp)
c.2698A>C
c.2844A>C (p.Glu948Asp)
c.*2346A>C (n.*2346A>C)
c.2763A>C (p.Glu921Asp)
c.*1891A>C (n.*1891A>C)
c.2715A>C (p.Glu905Asp)
c.1923A>C (p.Glu641Asp)
c.1506A>C (p.Glu502Asp)
n.3053A>C
n.3048A>C
 dbSNP gnomAD v2
12g.132661547T=CA2072995647POLEc.465A= (p.Glu155=)
c.2698A=
c.2844A= (p.Glu948=)
c.*2346A= (n.*2346A=)
c.2763A= (p.Glu921=)
c.*1891A= (n.*1891A=)
c.2715A= (p.Glu905=)
c.1923A= (p.Glu641=)
c.1506A= (p.Glu502=)
n.3053A=
n.3048A=
12g.132661548T>ACA387393599POLEc.464A>T (p.Glu155Val)
c.2697A>T
c.2843A>T (p.Glu948Val)
c.*2345A>T (n.*2345A>T)
c.2762A>T (p.Glu921Val)
c.*1890A>T (n.*1890A>T)
c.2714A>T (p.Glu905Val)
c.1922A>T (p.Glu641Val)
c.1505A>T (p.Glu502Val)
n.3052A>T
n.3047A>T
12g.132661548T>CCA387393601POLEc.464A>G (p.Glu155Gly)
c.2697A>G
c.2843A>G (p.Glu948Gly)
c.*2345A>G (n.*2345A>G)
c.2762A>G (p.Glu921Gly)
c.*1890A>G (n.*1890A>G)
c.2714A>G (p.Glu905Gly)
c.1922A>G (p.Glu641Gly)
c.1505A>G (p.Glu502Gly)
n.3052A>G
n.3047A>G
12g.132661548T>GCA387393603POLEc.464A>C (p.Glu155Ala)
c.2697A>C
c.2843A>C (p.Glu948Ala)
c.*2345A>C (n.*2345A>C)
c.2762A>C (p.Glu921Ala)
c.*1890A>C (n.*1890A>C)
c.2714A>C (p.Glu905Ala)
c.1922A>C (p.Glu641Ala)
c.1505A>C (p.Glu502Ala)
n.3052A>C
n.3047A>C
12g.132661549C>ACA387393604POLEc.463G>T (p.Glu155Ter)
c.2696G>T
c.2842G>T (p.Glu948Ter)
c.*2344G>T (n.*2344G>T)
c.2761G>T (p.Glu921Ter)
c.*1889G>T (n.*1889G>T)
c.2713G>T (p.Glu905Ter)
c.1921G>T (p.Glu641Ter)
c.1504G>T (p.Glu502Ter)
n.3051G>T
n.3046G>T
 dbSNP
12g.132661549C>GCA387393605POLEc.463G>C (p.Glu155Gln)
c.2696G>C
c.2842G>C (p.Glu948Gln)
c.*2344G>C (n.*2344G>C)
c.2761G>C (p.Glu921Gln)
c.*1889G>C (n.*1889G>C)
c.2713G>C (p.Glu905Gln)
c.1921G>C (p.Glu641Gln)
c.1504G>C (p.Glu502Gln)
n.3051G>C
n.3046G>C
 dbSNP
12g.132661549C>TCA387393607POLEc.463G>A (p.Glu155Lys)
c.2696G>A
c.2842G>A (p.Glu948Lys)
c.*2344G>A (n.*2344G>A)
c.2761G>A (p.Glu921Lys)
c.*1889G>A (n.*1889G>A)
c.2713G>A (p.Glu905Lys)
c.1921G>A (p.Glu641Lys)
c.1504G>A (p.Glu502Lys)
n.3051G>A
n.3046G>A
 dbSNP
12g.132661550T>ACA387393609POLEc.462A>T (p.Glu154Asp)
c.2695A>T
c.2841A>T (p.Glu947Asp)
c.*2343A>T (n.*2343A>T)
c.2760A>T (p.Glu920Asp)
c.*1888A>T (n.*1888A>T)
c.2712A>T (p.Glu904Asp)
c.1920A>T (p.Glu640Asp)
c.1503A>T (p.Glu501Asp)
n.3050A>T
n.3045A>T
12g.132661550T>CCA482735528POLEc.462A>G (p.Glu154=)
c.2695A>G
c.2841A>G (p.Glu947=)
c.*2343A>G (n.*2343A>G)
c.2760A>G (p.Glu920=)
c.*1888A>G (n.*1888A>G)
c.2712A>G (p.Glu904=)
c.1920A>G (p.Glu640=)
c.1503A>G (p.Glu501=)
n.3050A>G
n.3045A>G
 ClinVar
12g.132661550T>GCA387393610POLEc.462A>C (p.Glu154Asp)
c.2695A>C
c.2841A>C (p.Glu947Asp)
c.*2343A>C (n.*2343A>C)
c.2760A>C (p.Glu920Asp)
c.*1888A>C (n.*1888A>C)
c.2712A>C (p.Glu904Asp)
c.1920A>C (p.Glu640Asp)
c.1503A>C (p.Glu501Asp)
n.3050A>C
n.3045A>C
12g.132661551T>ACA387393612POLEc.461A>T (p.Glu154Val)
c.2694A>T
c.2840A>T (p.Glu947Val)
c.*2342A>T (n.*2342A>T)
c.2759A>T (p.Glu920Val)
c.*1887A>T (n.*1887A>T)
c.2711A>T (p.Glu904Val)
c.1919A>T (p.Glu640Val)
c.1502A>T (p.Glu501Val)
n.3049A>T
n.3044A>T
12g.132661551T>CCA387393614POLEc.461A>G (p.Glu154Gly)
c.2694A>G
c.2840A>G (p.Glu947Gly)
c.*2342A>G (n.*2342A>G)
c.2759A>G (p.Glu920Gly)
c.*1887A>G (n.*1887A>G)
c.2711A>G (p.Glu904Gly)
c.1919A>G (p.Glu640Gly)
c.1502A>G (p.Glu501Gly)
n.3049A>G
n.3044A>G
12g.132661551T>GCA387393615POLEc.461A>C (p.Glu154Ala)
c.2694A>C
c.2840A>C (p.Glu947Ala)
c.*2342A>C (n.*2342A>C)
c.2759A>C (p.Glu920Ala)
c.*1887A>C (n.*1887A>C)
c.2711A>C (p.Glu904Ala)
c.1919A>C (p.Glu640Ala)
c.1502A>C (p.Glu501Ala)
n.3049A>C
n.3044A>C
12g.132661552C>ACA387393621POLEc.460G>T (p.Glu154Ter)
c.2693G>T
c.2839G>T (p.Glu947Ter)
c.*2341G>T (n.*2341G>T)
c.2758G>T (p.Glu920Ter)
c.*1886G>T (n.*1886G>T)
c.2710G>T (p.Glu904Ter)
c.1918G>T (p.Glu640Ter)
c.1501G>T (p.Glu501Ter)
n.3048G>T
n.3043G>T
12g.132661552C>GCA387393617POLEc.460G>C (p.Glu154Gln)
c.2693G>C
c.2839G>C (p.Glu947Gln)
c.*2341G>C (n.*2341G>C)
c.2758G>C (p.Glu920Gln)
c.*1886G>C (n.*1886G>C)
c.2710G>C (p.Glu904Gln)
c.1918G>C (p.Glu640Gln)
c.1501G>C (p.Glu501Gln)
n.3048G>C
n.3043G>C
12g.132661552C>TCA387393619POLEc.460G>A (p.Glu154Lys)
c.2693G>A
c.2839G>A (p.Glu947Lys)
c.*2341G>A (n.*2341G>A)
c.2758G>A (p.Glu920Lys)
c.*1886G>A (n.*1886G>A)
c.2710G>A (p.Glu904Lys)
c.1918G>A (p.Glu640Lys)
c.1501G>A (p.Glu501Lys)
n.3048G>A
n.3043G>A
12g.132661553delCA2739277369POLEc.460del (p.Glu154LysfsTer6)
c.2693del
c.2839del (p.Glu947LysfsTer6)
c.*2341del (n.*2341del)
c.2758del (p.Glu920LysfsTer6)
c.*1886del (n.*1886del)
c.2710del (p.Glu904LysfsTer6)
c.1918del (p.Glu640LysfsTer6)
c.1501del (p.Glu501LysfsTer6)
n.3048del
n.3043del
 ClinVar
12g.132661553C>ACA387393622POLEc.459G>T (p.Lys153Asn)
c.2692G>T
c.2838G>T (p.Lys946Asn)
c.*2340G>T (n.*2340G>T)
c.2757G>T (p.Lys919Asn)
c.*1885G>T (n.*1885G>T)
c.2709G>T (p.Lys903Asn)
c.1917G>T (p.Lys639Asn)
c.1500G>T (p.Lys500Asn)
n.3047G>T
n.3042G>T
 dbSNP
12g.132661553C>GCA387393623POLEc.459G>C (p.Lys153Asn)
c.2692G>C
c.2838G>C (p.Lys946Asn)
c.*2340G>C (n.*2340G>C)
c.2757G>C (p.Lys919Asn)
c.*1885G>C (n.*1885G>C)
c.2709G>C (p.Lys903Asn)
c.1917G>C (p.Lys639Asn)
c.1500G>C (p.Lys500Asn)
n.3047G>C
n.3042G>C
 dbSNP
12g.132661553C>TCA482735536POLEc.459G>A (p.Lys153=)
c.2692G>A
c.2838G>A (p.Lys946=)
c.*2340G>A (n.*2340G>A)
c.2757G>A (p.Lys919=)
c.*1885G>A (n.*1885G>A)
c.2709G>A (p.Lys903=)
c.1917G>A (p.Lys639=)
c.1500G>A (p.Lys500=)
n.3047G>A
n.3042G>A
 ClinVar dbSNP gnomAD v4
12g.132661554T>ACA387393625POLEc.458A>T (p.Lys153Met)
c.2691A>T
c.2837A>T (p.Lys946Met)
c.*2339A>T (n.*2339A>T)
c.2756A>T (p.Lys919Met)
c.*1884A>T (n.*1884A>T)
c.2708A>T (p.Lys903Met)
c.1916A>T (p.Lys639Met)
c.1499A>T (p.Lys500Met)
n.3046A>T
n.3041A>T
12g.132661554T>CCA387393627POLEc.458A>G (p.Lys153Arg)
c.2691A>G
c.2837A>G (p.Lys946Arg)
c.*2339A>G (n.*2339A>G)
c.2756A>G (p.Lys919Arg)
c.*1884A>G (n.*1884A>G)
c.2708A>G (p.Lys903Arg)
c.1916A>G (p.Lys639Arg)
c.1499A>G (p.Lys500Arg)
n.3046A>G
n.3041A>G
 ClinVar dbSNP
12g.132661554T>GCA387393628POLEc.458A>C (p.Lys153Thr)
c.2691A>C
c.2837A>C (p.Lys946Thr)
c.*2339A>C (n.*2339A>C)
c.2756A>C (p.Lys919Thr)
c.*1884A>C (n.*1884A>C)
c.2708A>C (p.Lys903Thr)
c.1916A>C (p.Lys639Thr)
c.1499A>C (p.Lys500Thr)
n.3046A>C
n.3041A>C
12g.132661555T>ACA387393630POLEc.457A>T (p.Lys153Ter)
c.2690A>T
c.2836A>T (p.Lys946Ter)
c.*2338A>T (n.*2338A>T)
c.2755A>T (p.Lys919Ter)
c.*1883A>T (n.*1883A>T)
c.2707A>T (p.Lys903Ter)
c.1915A>T (p.Lys639Ter)
c.1498A>T (p.Lys500Ter)
n.3045A>T
n.3040A>T
12g.132661555T>CCA387393632POLEc.457A>G (p.Lys153Glu)
c.2690A>G
c.2836A>G (p.Lys946Glu)
c.*2338A>G (n.*2338A>G)
c.2755A>G (p.Lys919Glu)
c.*1883A>G (n.*1883A>G)
c.2707A>G (p.Lys903Glu)
c.1915A>G (p.Lys639Glu)
c.1498A>G (p.Lys500Glu)
n.3045A>G
n.3040A>G
 ClinVar dbSNP
12g.132661555T>GCA387393634POLEc.457A>C (p.Lys153Gln)
c.2690A>C
c.2836A>C (p.Lys946Gln)
c.*2338A>C (n.*2338A>C)
c.2755A>C (p.Lys919Gln)
c.*1883A>C (n.*1883A>C)
c.2707A>C (p.Lys903Gln)
c.1915A>C (p.Lys639Gln)
c.1498A>C (p.Lys500Gln)
n.3045A>C
n.3040A>C
12g.132661556G>ACA482735540POLEc.456C>T (p.Ser152=)
c.2689C>T
c.2835C>T (p.Ser945=)
c.*2337C>T (n.*2337C>T)
c.2754C>T (p.Ser918=)
c.*1882C>T (n.*1882C>T)
c.2706C>T (p.Ser902=)
c.1914C>T (p.Ser638=)
c.1497C>T (p.Ser499=)
n.3044C>T
n.3039C>T
 ClinVar
12g.132661556G>CCA482735541POLEc.456C>G (p.Ser152=)
c.2689C>G
c.2835C>G (p.Ser945=)
c.*2337C>G (n.*2337C>G)
c.2754C>G (p.Ser918=)
c.*1882C>G (n.*1882C>G)
c.2706C>G (p.Ser902=)
c.1914C>G (p.Ser638=)
c.1497C>G (p.Ser499=)
n.3044C>G
n.3039C>G
12g.132661556G>TCA482735539POLEc.456C>A (p.Ser152=)
c.2689C>A
c.2835C>A (p.Ser945=)
c.*2337C>A (n.*2337C>A)
c.2754C>A (p.Ser918=)
c.*1882C>A (n.*1882C>A)
c.2706C>A (p.Ser902=)
c.1914C>A (p.Ser638=)
c.1497C>A (p.Ser499=)
n.3044C>A
n.3039C>A
 dbSNP
12g.132661557delCA2727557082POLEc.456del (p.Lys153ArgfsTer7)
c.2689del
c.2835del (p.Lys946ArgfsTer7)
c.*2337del (n.*2337del)
c.2754del (p.Lys919ArgfsTer7)
c.*1882del (n.*1882del)
c.2706del (p.Lys903ArgfsTer7)
c.1914del (p.Lys639ArgfsTer7)
c.1497del (p.Lys500ArgfsTer7)
n.3044del
n.3039del
 dbSNP
12g.132661557G>ACA387393635POLEc.455C>T (p.Ser152Phe)
c.2688C>T
c.2834C>T (p.Ser945Phe)
c.*2336C>T (n.*2336C>T)
c.2753C>T (p.Ser918Phe)
c.*1881C>T (n.*1881C>T)
c.2705C>T (p.Ser902Phe)
c.1913C>T (p.Ser638Phe)
c.1496C>T (p.Ser499Phe)
n.3043C>T
n.3038C>T
 ClinVar
12g.132661557G>CCA387393636POLEc.455C>G (p.Ser152Cys)
c.2688C>G
c.2834C>G (p.Ser945Cys)
c.*2336C>G (n.*2336C>G)
c.2753C>G (p.Ser918Cys)
c.*1881C>G (n.*1881C>G)
c.2705C>G (p.Ser902Cys)
c.1913C>G (p.Ser638Cys)
c.1496C>G (p.Ser499Cys)
n.3043C>G
n.3038C>G
12g.132661557G>TCA387393637POLEc.455C>A (p.Ser152Tyr)
c.2688C>A
c.2834C>A (p.Ser945Tyr)
c.*2336C>A (n.*2336C>A)
c.2753C>A (p.Ser918Tyr)
c.*1881C>A (n.*1881C>A)
c.2705C>A (p.Ser902Tyr)
c.1913C>A (p.Ser638Tyr)
c.1496C>A (p.Ser499Tyr)
n.3043C>A
n.3038C>A
12g.132661558A=CA2072995648POLEc.454T= (p.Ser152=)
c.2687T=
c.2833T= (p.Ser945=)
c.*2335T= (n.*2335T=)
c.2752T= (p.Ser918=)
c.*1880T= (n.*1880T=)
c.2704T= (p.Ser902=)
c.1912T= (p.Ser638=)
c.1495T= (p.Ser499=)
n.3042T=
n.3037T=
12g.132661558A>CCA387393644POLEc.454T>G (p.Ser152Ala)
c.2687T>G
c.2833T>G (p.Ser945Ala)
c.*2335T>G (n.*2335T>G)
c.2752T>G (p.Ser918Ala)
c.*1880T>G (n.*1880T>G)
c.2704T>G (p.Ser902Ala)
c.1912T>G (p.Ser638Ala)
c.1495T>G (p.Ser499Ala)
n.3042T>G
n.3037T>G
 ClinVar dbSNP
12g.132661558A>GCA387393642POLEc.454T>C (p.Ser152Pro)
c.2687T>C
c.2833T>C (p.Ser945Pro)
c.*2335T>C (n.*2335T>C)
c.2752T>C (p.Ser918Pro)
c.*1880T>C (n.*1880T>C)
c.2704T>C (p.Ser902Pro)
c.1912T>C (p.Ser638Pro)
c.1495T>C (p.Ser499Pro)
n.3042T>C
n.3037T>C
 dbSNP
12g.132661558A>TCA387393640POLEc.454T>A (p.Ser152Thr)
c.2687T>A
c.2833T>A (p.Ser945Thr)
c.*2335T>A (n.*2335T>A)
c.2752T>A (p.Ser918Thr)
c.*1880T>A (n.*1880T>A)
c.2704T>A (p.Ser902Thr)
c.1912T>A (p.Ser638Thr)
c.1495T>A (p.Ser499Thr)
n.3042T>A
n.3037T>A
 ClinVar dbSNP
12g.132661559G>ACA482735544POLEc.453C>T (p.Ala151=)
c.2686C>T
c.2832C>T (p.Ala944=)
c.*2334C>T (n.*2334C>T)
c.2751C>T (p.Ala917=)
c.*1879C>T (n.*1879C>T)
c.2703C>T (p.Ala901=)
c.1911C>T (p.Ala637=)
c.1494C>T (p.Ala498=)
n.3041C>T
n.3036C>T
 ClinVar dbSNP
12g.132661559G>CCA482735543POLEc.453C>G (p.Ala151=)
c.2686C>G
c.2832C>G (p.Ala944=)
c.*2334C>G (n.*2334C>G)
c.2751C>G (p.Ala917=)
c.*1879C>G (n.*1879C>G)
c.2703C>G (p.Ala901=)
c.1911C>G (p.Ala637=)
c.1494C>G (p.Ala498=)
n.3041C>G
n.3036C>G
12g.132661559G=CA2072995649POLEc.453C= (p.Ala151=)
c.2686C=
c.2832C= (p.Ala944=)
c.*2334C= (n.*2334C=)
c.2751C= (p.Ala917=)
c.*1879C= (n.*1879C=)
c.2703C= (p.Ala901=)
c.1911C= (p.Ala637=)
c.1494C= (p.Ala498=)
n.3041C=
n.3036C=
12g.132661559G>TCA482735542POLEc.453C>A (p.Ala151=)
c.2686C>A
c.2832C>A (p.Ala944=)
c.*2334C>A (n.*2334C>A)
c.2751C>A (p.Ala917=)
c.*1879C>A (n.*1879C>A)
c.2703C>A (p.Ala901=)
c.1911C>A (p.Ala637=)
c.1494C>A (p.Ala498=)
n.3041C>A
n.3036C>A
 dbSNP
12g.132661560G>ACA387393646POLEc.452C>T (p.Ala151Val)
c.2685C>T
c.2831C>T (p.Ala944Val)
c.*2333C>T (n.*2333C>T)
c.2750C>T (p.Ala917Val)
c.*1878C>T (n.*1878C>T)
c.2702C>T (p.Ala901Val)
c.1910C>T (p.Ala637Val)
c.1493C>T (p.Ala498Val)
n.3040C>T
n.3035C>T
 dbSNP
12g.132661560G>CCA387393648POLEc.452C>G (p.Ala151Gly)
c.2685C>G
c.2831C>G (p.Ala944Gly)
c.*2333C>G (n.*2333C>G)
c.2750C>G (p.Ala917Gly)
c.*1878C>G (n.*1878C>G)
c.2702C>G (p.Ala901Gly)
c.1910C>G (p.Ala637Gly)
c.1493C>G (p.Ala498Gly)
n.3040C>G
n.3035C>G
 dbSNP
12g.132661560G>TCA387393647POLEc.452C>A (p.Ala151Asp)
c.2685C>A
c.2831C>A (p.Ala944Asp)
c.*2333C>A (n.*2333C>A)
c.2750C>A (p.Ala917Asp)
c.*1878C>A (n.*1878C>A)
c.2702C>A (p.Ala901Asp)
c.1910C>A (p.Ala637Asp)
c.1493C>A (p.Ala498Asp)
n.3040C>A
n.3035C>A
 dbSNP
12g.132661561C>ACA387393650POLEc.451G>T (p.Ala151Ser)
c.2684G>T
c.2830G>T (p.Ala944Ser)
c.*2332G>T (n.*2332G>T)
c.2749G>T (p.Ala917Ser)
c.*1877G>T (n.*1877G>T)
c.2701G>T (p.Ala901Ser)
c.1909G>T (p.Ala637Ser)
c.1492G>T (p.Ala498Ser)
n.3039G>T
n.3034G>T
 ClinVar dbSNP
12g.132661561C=CA2072995650POLEc.451G= (p.Ala151=)
c.2684G=
c.2830G= (p.Ala944=)
c.*2332G= (n.*2332G=)
c.2749G= (p.Ala917=)
c.*1877G= (n.*1877G=)
c.2701G= (p.Ala901=)
c.1909G= (p.Ala637=)
c.1492G= (p.Ala498=)
n.3039G=
n.3034G=
12g.132661561C>GCA387393654POLEc.451G>C (p.Ala151Pro)
c.2684G>C
c.2830G>C (p.Ala944Pro)
c.*2332G>C (n.*2332G>C)
c.2749G>C (p.Ala917Pro)
c.*1877G>C (n.*1877G>C)
c.2701G>C (p.Ala901Pro)
c.1909G>C (p.Ala637Pro)
c.1492G>C (p.Ala498Pro)
n.3039G>C
n.3034G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.132661561C>TCA387393652POLEc.451G>A (p.Ala151Thr)
c.2684G>A
c.2830G>A (p.Ala944Thr)
c.*2332G>A (n.*2332G>A)
c.2749G>A (p.Ala917Thr)
c.*1877G>A (n.*1877G>A)
c.2701G>A (p.Ala901Thr)
c.1909G>A (p.Ala637Thr)
c.1492G>A (p.Ala498Thr)
n.3039G>A
n.3034G>A
 ClinVar
12g.132661562T>ACA482735547POLEc.450A>T (p.Pro150=)
c.2683A>T
c.2829A>T (p.Pro943=)
c.*2331A>T (n.*2331A>T)
c.2748A>T (p.Pro916=)
c.*1876A>T (n.*1876A>T)
c.2700A>T (p.Pro900=)
c.1908A>T (p.Pro636=)
c.1491A>T (p.Pro497=)
n.3038A>T
n.3033A>T
12g.132661562T>CCA482735552POLEc.450A>G (p.Pro150=)
c.2683A>G
c.2829A>G (p.Pro943=)
c.*2331A>G (n.*2331A>G)
c.2748A>G (p.Pro916=)
c.*1876A>G (n.*1876A>G)
c.2700A>G (p.Pro900=)
c.1908A>G (p.Pro636=)
c.1491A>G (p.Pro497=)
n.3038A>G
n.3033A>G
12g.132661562T>GCA482735549POLEc.450A>C (p.Pro150=)
c.2683A>C
c.2829A>C (p.Pro943=)
c.*2331A>C (n.*2331A>C)
c.2748A>C (p.Pro916=)
c.*1876A>C (n.*1876A>C)
c.2700A>C (p.Pro900=)
c.1908A>C (p.Pro636=)
c.1491A>C (p.Pro497=)
n.3038A>C
n.3033A>C
 gnomAD v4
12g.132661563G>ACA387393655POLEc.449C>T (p.Pro150Leu)
c.2682C>T
c.2828C>T (p.Pro943Leu)
c.*2330C>T (n.*2330C>T)
c.2747C>T (p.Pro916Leu)
c.*1875C>T (n.*1875C>T)
c.2699C>T (p.Pro900Leu)
c.1907C>T (p.Pro636Leu)
c.1490C>T (p.Pro497Leu)
n.3037C>T
n.3032C>T
 ClinVar dbSNP
12g.132661563G>CCA387393658POLEc.449C>G (p.Pro150Arg)
c.2682C>G
c.2828C>G (p.Pro943Arg)
c.*2330C>G (n.*2330C>G)
c.2747C>G (p.Pro916Arg)
c.*1875C>G (n.*1875C>G)
c.2699C>G (p.Pro900Arg)
c.1907C>G (p.Pro636Arg)
c.1490C>G (p.Pro497Arg)
n.3037C>G
n.3032C>G
 dbSNP
12g.132661563G>TCA387393657POLEc.449C>A (p.Pro150Gln)
c.2682C>A
c.2828C>A (p.Pro943Gln)
c.*2330C>A (n.*2330C>A)
c.2747C>A (p.Pro916Gln)
c.*1875C>A (n.*1875C>A)
c.2699C>A (p.Pro900Gln)
c.1907C>A (p.Pro636Gln)
c.1490C>A (p.Pro497Gln)
n.3037C>A
n.3032C>A
 dbSNP
12g.132661564G>ACA387393660POLEc.448C>T (p.Pro150Ser)
c.2681C>T
c.2827C>T (p.Pro943Ser)
c.*2329C>T (n.*2329C>T)
c.2746C>T (p.Pro916Ser)
c.*1874C>T (n.*1874C>T)
c.2698C>T (p.Pro900Ser)
c.1906C>T (p.Pro636Ser)
c.1489C>T (p.Pro497Ser)
n.3036C>T
n.3031C>T
12g.132661564G>CCA387393663POLEc.448C>G (p.Pro150Ala)
c.2681C>G
c.2827C>G (p.Pro943Ala)
c.*2329C>G (n.*2329C>G)
c.2746C>G (p.Pro916Ala)
c.*1874C>G (n.*1874C>G)
c.2698C>G (p.Pro900Ala)
c.1906C>G (p.Pro636Ala)
c.1489C>G (p.Pro497Ala)
n.3036C>G
n.3031C>G
12g.132661564G>TCA387393662POLEc.448C>A (p.Pro150Thr)
c.2681C>A
c.2827C>A (p.Pro943Thr)
c.*2329C>A (n.*2329C>A)
c.2746C>A (p.Pro916Thr)
c.*1874C>A (n.*1874C>A)
c.2698C>A (p.Pro900Thr)
c.1906C>A (p.Pro636Thr)
c.1489C>A (p.Pro497Thr)
n.3036C>A
n.3031C>A
 gnomAD v4
12g.132661565A>CCA482735556POLEc.447T>G (p.Leu149=)
c.2680T>G
c.2826T>G (p.Leu942=)
c.*2328T>G (n.*2328T>G)
c.2745T>G (p.Leu915=)
c.*1873T>G (n.*1873T>G)
c.2697T>G (p.Leu899=)
c.1905T>G (p.Leu635=)
c.1488T>G (p.Leu496=)
n.3035T>G
n.3030T>G
 dbSNP
12g.132661565A>GCA482735557POLEc.447T>C (p.Leu149=)
c.2680T>C
c.2826T>C (p.Leu942=)
c.*2328T>C (n.*2328T>C)
c.2745T>C (p.Leu915=)
c.*1873T>C (n.*1873T>C)
c.2697T>C (p.Leu899=)
c.1905T>C (p.Leu635=)
c.1488T>C (p.Leu496=)
n.3035T>C
n.3030T>C
12g.132661565A>TCA482735558POLEc.447T>A (p.Leu149=)
c.2680T>A
c.2826T>A (p.Leu942=)
c.*2328T>A (n.*2328T>A)
c.2745T>A (p.Leu915=)
c.*1873T>A (n.*1873T>A)
c.2697T>A (p.Leu899=)
c.1905T>A (p.Leu635=)
c.1488T>A (p.Leu496=)
n.3035T>A
n.3030T>A
 dbSNP
12g.132661566A=CA2072995651POLEc.446T= (p.Leu149=)
c.2679T=
c.2825T= (p.Leu942=)
c.*2327T= (n.*2327T=)
c.2744T= (p.Leu915=)
c.*1872T= (n.*1872T=)
c.2696T= (p.Leu899=)
c.1904T= (p.Leu635=)
c.1487T= (p.Leu496=)
n.3034T=
n.3029T=
12g.132661566A>CCA387393665POLEc.446T>G (p.Leu149Arg)
c.2679T>G
c.2825T>G (p.Leu942Arg)
c.*2327T>G (n.*2327T>G)
c.2744T>G (p.Leu915Arg)
c.*1872T>G (n.*1872T>G)
c.2696T>G (p.Leu899Arg)
c.1904T>G (p.Leu635Arg)
c.1487T>G (p.Leu496Arg)
n.3034T>G
n.3029T>G
12g.132661566A>GCA387393667POLEc.446T>C (p.Leu149Pro)
c.2679T>C
c.2825T>C (p.Leu942Pro)
c.*2327T>C (n.*2327T>C)
c.2744T>C (p.Leu915Pro)
c.*1872T>C (n.*1872T>C)
c.2696T>C (p.Leu899Pro)
c.1904T>C (p.Leu635Pro)
c.1487T>C (p.Leu496Pro)
n.3034T>C
n.3029T>C
 dbSNP
12g.132661566A>TCA387393668POLEc.446T>A (p.Leu149His)
c.2679T>A
c.2825T>A (p.Leu942His)
c.*2327T>A (n.*2327T>A)
c.2744T>A (p.Leu915His)
c.*1872T>A (n.*1872T>A)
c.2696T>A (p.Leu899His)
c.1904T>A (p.Leu635His)
c.1487T>A (p.Leu496His)
n.3034T>A
n.3029T>A
12g.132661567G>ACA387393669POLEc.445C>T (p.Leu149Phe)
c.2678C>T
c.2824C>T (p.Leu942Phe)
c.*2326C>T (n.*2326C>T)
c.2743C>T (p.Leu915Phe)
c.*1871C>T (n.*1871C>T)
c.2695C>T (p.Leu899Phe)
c.1903C>T (p.Leu635Phe)
c.1486C>T (p.Leu496Phe)
n.3033C>T
n.3028C>T
 ClinVar dbSNP
12g.132661567G>CCA387393670POLEc.445C>G (p.Leu149Val)
c.2678C>G
c.2824C>G (p.Leu942Val)
c.*2326C>G (n.*2326C>G)
c.2743C>G (p.Leu915Val)
c.*1871C>G (n.*1871C>G)
c.2695C>G (p.Leu899Val)
c.1903C>G (p.Leu635Val)
c.1486C>G (p.Leu496Val)
n.3033C>G
n.3028C>G
 dbSNP
12g.132661567G=CA2072995652POLEc.445C= (p.Leu149=)
c.2678C=
c.2824C= (p.Leu942=)
c.*2326C= (n.*2326C=)
c.2743C= (p.Leu915=)
c.*1871C= (n.*1871C=)
c.2695C= (p.Leu899=)
c.1903C= (p.Leu635=)
c.1486C= (p.Leu496=)
n.3033C=
n.3028C=
12g.132661567G>TCA387393672POLEc.445C>A (p.Leu149Ile)
c.2678C>A
c.2824C>A (p.Leu942Ile)
c.*2326C>A (n.*2326C>A)
c.2743C>A (p.Leu915Ile)
c.*1871C>A (n.*1871C>A)
c.2695C>A (p.Leu899Ile)
c.1903C>A (p.Leu635Ile)
c.1486C>A (p.Leu496Ile)
n.3033C>A
n.3028C>A
12g.132661568A>CCA387393674POLEc.444T>G (p.Ile148Met)
c.2677T>G
c.2823T>G (p.Ile941Met)
c.*2325T>G (n.*2325T>G)
c.2742T>G (p.Ile914Met)
c.*1870T>G (n.*1870T>G)
c.2694T>G (p.Ile898Met)
c.1902T>G (p.Ile634Met)
c.1485T>G (p.Ile495Met)
n.3032T>G
n.3027T>G
12g.132661568A>GCA482735561POLEc.444T>C (p.Ile148=)
c.2677T>C
c.2823T>C (p.Ile941=)
c.*2325T>C (n.*2325T>C)
c.2742T>C (p.Ile914=)
c.*1870T>C (n.*1870T>C)
c.2694T>C (p.Ile898=)
c.1902T>C (p.Ile634=)
c.1485T>C (p.Ile495=)
n.3032T>C
n.3027T>C
12g.132661568A>TCA482735562POLEc.444T>A (p.Ile148=)
c.2677T>A
c.2823T>A (p.Ile941=)
c.*2325T>A (n.*2325T>A)
c.2742T>A (p.Ile914=)
c.*1870T>A (n.*1870T>A)
c.2694T>A (p.Ile898=)
c.1902T>A (p.Ile634=)
c.1485T>A (p.Ile495=)
n.3032T>A
n.3027T>A
 dbSNP
12g.132661569A>CCA387393676POLEc.443T>G (p.Ile148Ser)
c.2676T>G
c.2822T>G (p.Ile941Ser)
c.*2324T>G (n.*2324T>G)
c.2741T>G (p.Ile914Ser)
c.*1869T>G (n.*1869T>G)
c.2693T>G (p.Ile898Ser)
c.1901T>G (p.Ile634Ser)
c.1484T>G (p.Ile495Ser)
n.3031T>G
n.3026T>G
12g.132661569A>GCA387393677POLEc.443T>C (p.Ile148Thr)
c.2676T>C
c.2822T>C (p.Ile941Thr)
c.*2324T>C (n.*2324T>C)
c.2741T>C (p.Ile914Thr)
c.*1869T>C (n.*1869T>C)
c.2693T>C (p.Ile898Thr)
c.1901T>C (p.Ile634Thr)
c.1484T>C (p.Ile495Thr)
n.3031T>C
n.3026T>C
12g.132661569A>TCA387393679POLEc.443T>A (p.Ile148Asn)
c.2676T>A
c.2822T>A (p.Ile941Asn)
c.*2324T>A (n.*2324T>A)
c.2741T>A (p.Ile914Asn)
c.*1869T>A (n.*1869T>A)
c.2693T>A (p.Ile898Asn)
c.1901T>A (p.Ile634Asn)
c.1484T>A (p.Ile495Asn)
n.3031T>A
n.3026T>A
12g.132661570T>ACA387393683POLEc.442A>T (p.Ile148Phe)
c.2675A>T
c.2821A>T (p.Ile941Phe)
c.*2323A>T (n.*2323A>T)
c.2740A>T (p.Ile914Phe)
c.*1868A>T (n.*1868A>T)
c.2692A>T (p.Ile898Phe)
c.1900A>T (p.Ile634Phe)
c.1483A>T (p.Ile495Phe)
n.3030A>T
n.3025A>T
 dbSNP
12g.132661570T>CCA16613904POLEc.442A>G (p.Ile148Val)
c.2675A>G
c.2821A>G (p.Ile941Val)
c.*2323A>G (n.*2323A>G)
c.2740A>G (p.Ile914Val)
c.*1868A>G (n.*1868A>G)
c.2692A>G (p.Ile898Val)
c.1900A>G (p.Ile634Val)
c.1483A>G (p.Ile495Val)
n.3030A>G
n.3025A>G
 ClinVar dbSNP
12g.132661570T>GCA387393681POLEc.442A>C (p.Ile148Leu)
c.2675A>C
c.2821A>C (p.Ile941Leu)
c.*2323A>C (n.*2323A>C)
c.2740A>C (p.Ile914Leu)
c.*1868A>C (n.*1868A>C)
c.2692A>C (p.Ile898Leu)
c.1900A>C (p.Ile634Leu)
c.1483A>C (p.Ile495Leu)
n.3030A>C
n.3025A>C
12g.132661570T=CA2072995653POLEc.442A= (p.Ile148=)
c.2675A=
c.2821A= (p.Ile941=)
c.*2323A= (n.*2323A=)
c.2740A= (p.Ile914=)
c.*1868A= (n.*1868A=)
c.2692A= (p.Ile898=)
c.1900A= (p.Ile634=)
c.1483A= (p.Ile495=)
n.3030A=
n.3025A=
12g.132661571C>ACA387393685POLEc.441G>T (p.Met147Ile)
c.2674G>T
c.2820G>T (p.Met940Ile)
c.*2322G>T (n.*2322G>T)
c.2739G>T (p.Met913Ile)
c.*1867G>T (n.*1867G>T)
c.2691G>T (p.Met897Ile)
c.1899G>T (p.Met633Ile)
c.1482G>T (p.Met494Ile)
n.3029G>T
n.3024G>T
 dbSNP
12g.132661571C=CA2072995654POLEc.441G= (p.Met147=)
c.2674G=
c.2820G= (p.Met940=)
c.*2322G= (n.*2322G=)
c.2739G= (p.Met913=)
c.*1867G= (n.*1867G=)
c.2691G= (p.Met897=)
c.1899G= (p.Met633=)
c.1482G= (p.Met494=)
n.3029G=
n.3024G=
12g.132661571C>GCA387393687POLEc.441G>C (p.Met147Ile)
c.2674G>C
c.2820G>C (p.Met940Ile)
c.*2322G>C (n.*2322G>C)
c.2739G>C (p.Met913Ile)
c.*1867G>C (n.*1867G>C)
c.2691G>C (p.Met897Ile)
c.1899G>C (p.Met633Ile)
c.1482G>C (p.Met494Ile)
n.3029G>C
n.3024G>C
 dbSNP
12g.132661571C>TCA6893440POLEc.441G>A (p.Met147Ile)
c.2674G>A
c.2820G>A (p.Met940Ile)
c.*2322G>A (n.*2322G>A)
c.2739G>A (p.Met913Ile)
c.*1867G>A (n.*1867G>A)
c.2691G>A (p.Met897Ile)
c.1899G>A (p.Met633Ile)
c.1482G>A (p.Met494Ile)
n.3029G>A
n.3024G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.132661572A>CCA387393690POLEc.440T>G (p.Met147Arg)
c.2673T>G
c.2819T>G (p.Met940Arg)
c.*2321T>G (n.*2321T>G)
c.2738T>G (p.Met913Arg)
c.*1866T>G (n.*1866T>G)
c.2690T>G (p.Met897Arg)
c.1898T>G (p.Met633Arg)
c.1481T>G (p.Met494Arg)
n.3028T>G
n.3023T>G
12g.132661572A>GCA387393691POLEc.440T>C (p.Met147Thr)
c.2673T>C
c.2819T>C (p.Met940Thr)
c.*2321T>C (n.*2321T>C)
c.2738T>C (p.Met913Thr)
c.*1866T>C (n.*1866T>C)
c.2690T>C (p.Met897Thr)
c.1898T>C (p.Met633Thr)
c.1481T>C (p.Met494Thr)
n.3028T>C
n.3023T>C
 dbSNP
12g.132661572A>TCA387393693POLEc.440T>A (p.Met147Lys)
c.2673T>A
c.2819T>A (p.Met940Lys)
c.*2321T>A (n.*2321T>A)
c.2738T>A (p.Met913Lys)
c.*1866T>A (n.*1866T>A)
c.2690T>A (p.Met897Lys)
c.1898T>A (p.Met633Lys)
c.1481T>A (p.Met494Lys)
n.3028T>A
n.3023T>A
 dbSNP
12g.132661573T>ACA387393695POLEc.439A>T (p.Met147Leu)
c.2672A>T
c.2818A>T (p.Met940Leu)
c.*2320A>T (n.*2320A>T)
c.2737A>T (p.Met913Leu)
c.*1865A>T (n.*1865A>T)
c.2689A>T (p.Met897Leu)
c.1897A>T (p.Met633Leu)
c.1480A>T (p.Met494Leu)
n.3027A>T
n.3022A>T
12g.132661573T>CCA6893441POLEc.439A>G (p.Met147Val)
c.2672A>G
c.2818A>G (p.Met940Val)
c.*2320A>G (n.*2320A>G)
c.2737A>G (p.Met913Val)
c.*1865A>G (n.*1865A>G)
c.2689A>G (p.Met897Val)
c.1897A>G (p.Met633Val)
c.1480A>G (p.Met494Val)
n.3027A>G
n.3022A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.132661573T>GCA387393696POLEc.439A>C (p.Met147Leu)
c.2672A>C
c.2818A>C (p.Met940Leu)
c.*2320A>C (n.*2320A>C)
c.2737A>C (p.Met913Leu)
c.*1865A>C (n.*1865A>C)
c.2689A>C (p.Met897Leu)
c.1897A>C (p.Met633Leu)
c.1480A>C (p.Met494Leu)
n.3027A>C
n.3022A>C
12g.132661573T=CA2072995655POLEc.439A= (p.Met147=)
c.2672A=
c.2818A= (p.Met940=)
c.*2320A= (n.*2320A=)
c.2737A= (p.Met913=)
c.*1865A= (n.*1865A=)
c.2689A= (p.Met897=)
c.1897A= (p.Met633=)
c.1480A= (p.Met494=)
n.3027A=
n.3022A=
12g.132661574G>ACA482735569POLEc.438C>T (p.Ala146=)
c.2671C>T
c.2817C>T (p.Ala939=)
c.*2319C>T (n.*2319C>T)
c.2736C>T (p.Ala912=)
c.*1864C>T (n.*1864C>T)
c.2688C>T (p.Ala896=)
c.1896C>T (p.Ala632=)
c.1479C>T (p.Ala493=)
n.3026C>T
n.3021C>T
 dbSNP
12g.132661574G>CCA482735570POLEc.438C>G (p.Ala146=)
c.2671C>G
c.2817C>G (p.Ala939=)
c.*2319C>G (n.*2319C>G)
c.2736C>G (p.Ala912=)
c.*1864C>G (n.*1864C>G)
c.2688C>G (p.Ala896=)
c.1896C>G (p.Ala632=)
c.1479C>G (p.Ala493=)
n.3026C>G
n.3021C>G
 dbSNP
12g.132661574G>TCA482735571POLEc.438C>A (p.Ala146=)
c.2671C>A
c.2817C>A (p.Ala939=)
c.*2319C>A (n.*2319C>A)
c.2736C>A (p.Ala912=)
c.*1864C>A (n.*1864C>A)
c.2688C>A (p.Ala896=)
c.1896C>A (p.Ala632=)
c.1479C>A (p.Ala493=)
n.3026C>A
n.3021C>A
12g.132661575G>ACA6893442POLEc.437C>T (p.Ala146Val)
c.2670C>T
c.2816C>T (p.Ala939Val)
c.*2318C>T (n.*2318C>T)
c.2735C>T (p.Ala912Val)
c.*1863C>T (n.*1863C>T)
c.2687C>T (p.Ala896Val)
c.1895C>T (p.Ala632Val)
c.1478C>T (p.Ala493Val)
n.3025C>T
n.3020C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.132661575G>CCA387393699POLEc.437C>G (p.Ala146Gly)
c.2670C>G
c.2816C>G (p.Ala939Gly)
c.*2318C>G (n.*2318C>G)
c.2735C>G (p.Ala912Gly)
c.*1863C>G (n.*1863C>G)
c.2687C>G (p.Ala896Gly)
c.1895C>G (p.Ala632Gly)
c.1478C>G (p.Ala493Gly)
n.3025C>G
n.3020C>G
 dbSNP
12g.132661575G=CA2072995656POLEc.437C= (p.Ala146=)
c.2670C=
c.2816C= (p.Ala939=)
c.*2318C= (n.*2318C=)
c.2735C= (p.Ala912=)
c.*1863C= (n.*1863C=)
c.2687C= (p.Ala896=)
c.1895C= (p.Ala632=)
c.1478C= (p.Ala493=)
n.3025C=
n.3020C=
12g.132661575G>TCA387393700POLEc.437C>A (p.Ala146Asp)
c.2670C>A
c.2816C>A (p.Ala939Asp)
c.*2318C>A (n.*2318C>A)
c.2735C>A (p.Ala912Asp)
c.*1863C>A (n.*1863C>A)
c.2687C>A (p.Ala896Asp)
c.1895C>A (p.Ala632Asp)
c.1478C>A (p.Ala493Asp)
n.3025C>A
n.3020C>A
 dbSNP
12g.132661576C>ACA387393703POLEc.436G>T (p.Ala146Ser)
c.2669G>T
c.2815G>T (p.Ala939Ser)
c.*2317G>T (n.*2317G>T)
c.2734G>T (p.Ala912Ser)
c.*1862G>T (n.*1862G>T)
c.2686G>T (p.Ala896Ser)
c.1894G>T (p.Ala632Ser)
c.1477G>T (p.Ala493Ser)
n.3024G>T
n.3019G>T
 dbSNP
12g.132661576C>GCA387393702POLEc.436G>C (p.Ala146Pro)
c.2669G>C
c.2815G>C (p.Ala939Pro)
c.*2317G>C (n.*2317G>C)
c.2734G>C (p.Ala912Pro)
c.*1862G>C (n.*1862G>C)
c.2686G>C (p.Ala896Pro)
c.1894G>C (p.Ala632Pro)
c.1477G>C (p.Ala493Pro)
n.3024G>C
n.3019G>C
 dbSNP
12g.132661576C>TCA387393701POLEc.436G>A (p.Ala146Thr)
c.2669G>A
c.2815G>A (p.Ala939Thr)
c.*2317G>A (n.*2317G>A)
c.2734G>A (p.Ala912Thr)
c.*1862G>A (n.*1862G>A)
c.2686G>A (p.Ala896Thr)
c.1894G>A (p.Ala632Thr)
c.1477G>A (p.Ala493Thr)
n.3024G>A
n.3019G>A
 dbSNP
12g.132661576_132661577delinsCACA2072995657POLEc.435_436delinsTG (p.Leu145=)
c.2668_2669delinsTG
c.2814_2815delinsTG (p.Leu938=)
c.*2316_*2317delinsTG (n.*2316_*2317delinsTG)
c.2733_2734delinsTG (p.Leu911=)
c.*1861_*1862delinsTG (n.*1861_*1862delinsTG)
c.2685_2686delinsTG (p.Leu895=)
c.1893_1894delinsTG (p.Leu631=)
c.1476_1477delinsTG (p.Leu492=)
n.3023_3024delinsTG
n.3018_3019delinsTG
12g.132661577A>CCA482735575POLEc.435T>G (p.Leu145=)
c.2668T>G
c.2814T>G (p.Leu938=)
c.*2316T>G (n.*2316T>G)
c.2733T>G (p.Leu911=)
c.*1861T>G (n.*1861T>G)
c.2685T>G (p.Leu895=)
c.1893T>G (p.Leu631=)
c.1476T>G (p.Leu492=)
n.3023T>G
n.3018T>G
12g.132661577A>GCA482735578POLEc.435T>C (p.Leu145=)
c.2668T>C
c.2814T>C (p.Leu938=)
c.*2316T>C (n.*2316T>C)
c.2733T>C (p.Leu911=)
c.*1861T>C (n.*1861T>C)
c.2685T>C (p.Leu895=)
c.1893T>C (p.Leu631=)
c.1476T>C (p.Leu492=)
n.3023T>C
n.3018T>C
12g.132661577A>TCA482735577POLEc.435T>A (p.Leu145=)
c.2668T>A
c.2814T>A (p.Leu938=)
c.*2316T>A (n.*2316T>A)
c.2733T>A (p.Leu911=)
c.*1861T>A (n.*1861T>A)
c.2685T>A (p.Leu895=)
c.1893T>A (p.Leu631=)
c.1476T>A (p.Leu492=)
n.3023T>A
n.3018T>A
12g.132661578delCA608270646POLEc.435del (p.Ala146ProfsTer2)
c.2668del
c.2814del (p.Ala939ProfsTer2)
c.*2316del (n.*2316del)
c.2733del (p.Ala912ProfsTer2)
c.*1861del (n.*1861del)
c.2685del (p.Ala896ProfsTer2)
c.1893del (p.Ala632ProfsTer2)
c.1476del (p.Ala493ProfsTer2)
n.3023del
n.3018del
 dbSNP gnomAD v2
12g.132661578A>CCA387393706POLEc.434T>G (p.Leu145Arg)
c.2667T>G
c.2813T>G (p.Leu938Arg)
c.*2315T>G (n.*2315T>G)
c.2732T>G (p.Leu911Arg)
c.*1860T>G (n.*1860T>G)
c.2684T>G (p.Leu895Arg)
c.1892T>G (p.Leu631Arg)
c.1475T>G (p.Leu492Arg)
n.3022T>G
n.3017T>G
12g.132661578A>GCA387393704POLEc.434T>C (p.Leu145Pro)
c.2667T>C
c.2813T>C (p.Leu938Pro)
c.*2315T>C (n.*2315T>C)
c.2732T>C (p.Leu911Pro)
c.*1860T>C (n.*1860T>C)
c.2684T>C (p.Leu895Pro)
c.1892T>C (p.Leu631Pro)
c.1475T>C (p.Leu492Pro)
n.3022T>C
n.3017T>C
 ClinVar
12g.132661578A>TCA387393705POLEc.434T>A (p.Leu145His)
c.2667T>A
c.2813T>A (p.Leu938His)
c.*2315T>A (n.*2315T>A)
c.2732T>A (p.Leu911His)
c.*1860T>A (n.*1860T>A)
c.2684T>A (p.Leu895His)
c.1892T>A (p.Leu631His)
c.1475T>A (p.Leu492His)
n.3022T>A
n.3017T>A
 dbSNP
12g.132661581_132661584delCA2622056749POLEc.431_434del (p.Tyr144LeufsTer3)
c.2664_2667del
c.2810_2813del (p.Tyr937LeufsTer3)
c.*2312_*2315del (n.*2312_*2315del)
c.2729_2732del (p.Tyr910LeufsTer3)
c.*1857_*1860del (n.*1857_*1860del)
c.2681_2684del (p.Tyr894LeufsTer3)
c.1889_1892del (p.Tyr630LeufsTer3)
c.1472_1475del (p.Tyr491LeufsTer3)
n.3019_3022del
n.3014_3017del
 ClinVar gnomAD v4
12g.132661578_132661585delCA2727557439POLEc.427_434del (p.Pro143CysfsTer23)
c.2660_2667del
c.2806_2813del (p.Pro936CysfsTer23)
c.*2308_*2315del (n.*2308_*2315del)
c.2725_2732del (p.Pro909CysfsTer23)
c.*1853_*1860del (n.*1853_*1860del)
c.2677_2684del (p.Pro893CysfsTer23)
c.1885_1892del (p.Pro629CysfsTer23)
c.1468_1475del (p.Pro490CysfsTer23)
n.3015_3022del
n.3010_3017del
 dbSNP
12g.132661579G>ACA6893443POLEc.433C>T (p.Leu145Phe)
c.2666C>T
c.2812C>T (p.Leu938Phe)
c.*2314C>T (n.*2314C>T)
c.2731C>T (p.Leu911Phe)
c.*1859C>T (n.*1859C>T)
c.2683C>T (p.Leu895Phe)
c.1891C>T (p.Leu631Phe)
c.1474C>T (p.Leu492Phe)
n.3021C>T
n.3016C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.132661579G>CCA387393708POLEc.433C>G (p.Leu145Val)
c.2666C>G
c.2812C>G (p.Leu938Val)
c.*2314C>G (n.*2314C>G)
c.2731C>G (p.Leu911Val)
c.*1859C>G (n.*1859C>G)
c.2683C>G (p.Leu895Val)
c.1891C>G (p.Leu631Val)
c.1474C>G (p.Leu492Val)
n.3021C>G
n.3016C>G
 ClinVar dbSNP
12g.132661579G=CA2072995658POLEc.433C= (p.Leu145=)
c.2666C=
c.2812C= (p.Leu938=)
c.*2314C= (n.*2314C=)
c.2731C= (p.Leu911=)
c.*1859C= (n.*1859C=)
c.2683C= (p.Leu895=)
c.1891C= (p.Leu631=)
c.1474C= (p.Leu492=)
n.3021C=
n.3016C=
12g.132661579G>TCA387393710POLEc.433C>A (p.Leu145Ile)
c.2666C>A
c.2812C>A (p.Leu938Ile)
c.*2314C>A (n.*2314C>A)
c.2731C>A (p.Leu911Ile)
c.*1859C>A (n.*1859C>A)
c.2683C>A (p.Leu895Ile)
c.1891C>A (p.Leu631Ile)
c.1474C>A (p.Leu492Ile)
n.3021C>A
n.3016C>A
12g.132661580G>ACA482735580POLEc.432C>T (p.Tyr144=)
c.2665C>T
c.2811C>T (p.Tyr937=)
c.*2313C>T (n.*2313C>T)
c.2730C>T (p.Tyr910=)
c.*1858C>T (n.*1858C>T)
c.2682C>T (p.Tyr894=)
c.1890C>T (p.Tyr630=)
c.1473C>T (p.Tyr491=)
n.3020C>T
n.3015C>T
 ClinVar dbSNP
12g.132661580G>CCA387393711POLEc.432C>G (p.Tyr144Ter)
c.2665C>G
c.2811C>G (p.Tyr937Ter)
c.*2313C>G (n.*2313C>G)
c.2730C>G (p.Tyr910Ter)
c.*1858C>G (n.*1858C>G)
c.2682C>G (p.Tyr894Ter)
c.1890C>G (p.Tyr630Ter)
c.1473C>G (p.Tyr491Ter)
n.3020C>G
n.3015C>G
 ClinVar dbSNP gnomAD v4
12g.132661580G=CA2072995659POLEc.432C= (p.Tyr144=)
c.2665C=
c.2811C= (p.Tyr937=)
c.*2313C= (n.*2313C=)
c.2730C= (p.Tyr910=)
c.*1858C= (n.*1858C=)
c.2682C= (p.Tyr894=)
c.1890C= (p.Tyr630=)
c.1473C= (p.Tyr491=)
n.3020C=
n.3015C=
12g.132661580G>TCA387393712POLEc.432C>A (p.Tyr144Ter)
c.2665C>A
c.2811C>A (p.Tyr937Ter)
c.*2313C>A (n.*2313C>A)
c.2730C>A (p.Tyr910Ter)
c.*1858C>A (n.*1858C>A)
c.2682C>A (p.Tyr894Ter)
c.1890C>A (p.Tyr630Ter)
c.1473C>A (p.Tyr491Ter)
n.3020C>A
n.3015C>A
 ClinVar dbSNP
12g.132661580_132661582delinsCTCA2739277370POLEc.430_432delinsAG (p.Tyr144SerfsTer4)
c.2663_2665delinsAG
c.2809_2811delinsAG (p.Tyr937SerfsTer4)
c.*2311_*2313delinsAG (n.*2311_*2313delinsAG)
c.2728_2730delinsAG (p.Tyr910SerfsTer4)
c.*1856_*1858delinsAG (n.*1856_*1858delinsAG)
c.2680_2682delinsAG (p.Tyr894SerfsTer4)
c.1888_1890delinsAG (p.Tyr630SerfsTer4)
c.1471_1473delinsAG (p.Tyr491SerfsTer4)
n.3018_3020delinsAG
n.3013_3015delinsAG
 ClinVar
12g.132661581T>ACA387393713POLEc.431A>T (p.Tyr144Phe)
c.2664A>T
c.2810A>T (p.Tyr937Phe)
c.*2312A>T (n.*2312A>T)
c.2729A>T (p.Tyr910Phe)
c.*1857A>T (n.*1857A>T)
c.2681A>T (p.Tyr894Phe)
c.1889A>T (p.Tyr630Phe)
c.1472A>T (p.Tyr491Phe)
n.3019A>T
n.3014A>T
 ClinVar
12g.132661581T>CCA246317376POLEc.431A>G (p.Tyr144Cys)
c.2664A>G
c.2810A>G (p.Tyr937Cys)
c.*2312A>G (n.*2312A>G)
c.2729A>G (p.Tyr910Cys)
c.*1857A>G (n.*1857A>G)
c.2681A>G (p.Tyr894Cys)
c.1889A>G (p.Tyr630Cys)
c.1472A>G (p.Tyr491Cys)
n.3019A>G
n.3014A>G
 ClinVar dbSNP
12g.132661581T>GCA387393715POLEc.431A>C (p.Tyr144Ser)
c.2664A>C
c.2810A>C (p.Tyr937Ser)
c.*2312A>C (n.*2312A>C)
c.2729A>C (p.Tyr910Ser)
c.*1857A>C (n.*1857A>C)
c.2681A>C (p.Tyr894Ser)
c.1889A>C (p.Tyr630Ser)
c.1472A>C (p.Tyr491Ser)
n.3019A>C
n.3014A>C
 ClinVar dbSNP
12g.132661581T=CA2072995660POLEc.431A= (p.Tyr144=)
c.2664A=
c.2810A= (p.Tyr937=)
c.*2312A= (n.*2312A=)
c.2729A= (p.Tyr910=)
c.*1857A= (n.*1857A=)
c.2681A= (p.Tyr894=)
c.1889A= (p.Tyr630=)
c.1472A= (p.Tyr491=)
n.3019A=
n.3014A=
12g.132661581dupCA2573148207POLEc.431dup (p.Tyr144Ter)
c.2664dup
c.2810dup (p.Tyr937Ter)
c.*2312dup (n.*2312dup)
c.2729dup (p.Tyr910Ter)
c.*1857dup (n.*1857dup)
c.2681dup (p.Tyr894Ter)
c.1889dup (p.Tyr630Ter)
c.1472dup (p.Tyr491Ter)
n.3019dup
n.3014dup
 ClinVar dbSNP
12g.132661582delCA2499221528POLEc.430del (p.Tyr144ThrfsTer4)
c.2663del
c.2809del (p.Tyr937ThrfsTer4)
c.*2311del (n.*2311del)
c.2728del (p.Tyr910ThrfsTer4)
c.*1856del (n.*1856del)
c.2680del (p.Tyr894ThrfsTer4)
c.1888del (p.Tyr630ThrfsTer4)
c.1471del (p.Tyr491ThrfsTer4)
n.3018del
n.3013del
 dbSNP
12g.132661582A>CCA387393718POLEc.430T>G (p.Tyr144Asp)
c.2663T>G
c.2809T>G (p.Tyr937Asp)
c.*2311T>G (n.*2311T>G)
c.2728T>G (p.Tyr910Asp)
c.*1856T>G (n.*1856T>G)
c.2680T>G (p.Tyr894Asp)
c.1888T>G (p.Tyr630Asp)
c.1471T>G (p.Tyr491Asp)
n.3018T>G
n.3013T>G
12g.132661582A>GCA387393719POLEc.430T>C (p.Tyr144His)
c.2663T>C
c.2809T>C (p.Tyr937His)
c.*2311T>C (n.*2311T>C)
c.2728T>C (p.Tyr910His)
c.*1856T>C (n.*1856T>C)
c.2680T>C (p.Tyr894His)
c.1888T>C (p.Tyr630His)
c.1471T>C (p.Tyr491His)
n.3018T>C
n.3013T>C
 dbSNP
12g.132661582A>TCA387393720POLEc.430T>A (p.Tyr144Asn)
c.2663T>A
c.2809T>A (p.Tyr937Asn)
c.*2311T>A (n.*2311T>A)
c.2728T>A (p.Tyr910Asn)
c.*1856T>A (n.*1856T>A)
c.2680T>A (p.Tyr894Asn)
c.1888T>A (p.Tyr630Asn)
c.1471T>A (p.Tyr491Asn)
n.3018T>A
n.3013T>A
 dbSNP
12g.132661583G>ACA6893444POLEc.429C>T (p.Pro143=)
c.2662C>T
c.2808C>T (p.Pro936=)
c.*2310C>T (n.*2310C>T)
c.2727C>T (p.Pro909=)
c.*1855C>T (n.*1855C>T)
c.2679C>T (p.Pro893=)
c.1887C>T (p.Pro629=)
c.1470C>T (p.Pro490=)
n.3017C>T
n.3012C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.132661583G>CCA482735583POLEc.429C>G (p.Pro143=)
c.2662C>G
c.2808C>G (p.Pro936=)
c.*2310C>G (n.*2310C>G)
c.2727C>G (p.Pro909=)
c.*1855C>G (n.*1855C>G)
c.2679C>G (p.Pro893=)
c.1887C>G (p.Pro629=)
c.1470C>G (p.Pro490=)
n.3017C>G
n.3012C>G
 dbSNP
12g.132661583G=CA2072995661POLEc.429C= (p.Pro143=)
c.2662C=
c.2808C= (p.Pro936=)
c.*2310C= (n.*2310C=)
c.2727C= (p.Pro909=)
c.*1855C= (n.*1855C=)
c.2679C= (p.Pro893=)
c.1887C= (p.Pro629=)
c.1470C= (p.Pro490=)
n.3017C=
n.3012C=
12g.132661583G>TCA482735584POLEc.429C>A (p.Pro143=)
c.2662C>A
c.2808C>A (p.Pro936=)
c.*2310C>A (n.*2310C>A)
c.2727C>A (p.Pro909=)
c.*1855C>A (n.*1855C>A)
c.2679C>A (p.Pro893=)
c.1887C>A (p.Pro629=)
c.1470C>A (p.Pro490=)
n.3017C>A
n.3012C>A
 ClinVar dbSNP gnomAD v4
12g.132661584G>ACA387393723POLEc.428C>T (p.Pro143Leu)
c.2661C>T
c.2807C>T (p.Pro936Leu)
c.*2309C>T (n.*2309C>T)
c.2726C>T (p.Pro909Leu)
c.*1854C>T (n.*1854C>T)
c.2678C>T (p.Pro893Leu)
c.1886C>T (p.Pro629Leu)
c.1469C>T (p.Pro490Leu)
n.3016C>T
n.3011C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.132661584G>CCA387393725POLEc.428C>G (p.Pro143Arg)
c.2661C>G
c.2807C>G (p.Pro936Arg)
c.*2309C>G (n.*2309C>G)
c.2726C>G (p.Pro909Arg)
c.*1854C>G (n.*1854C>G)
c.2678C>G (p.Pro893Arg)
c.1886C>G (p.Pro629Arg)
c.1469C>G (p.Pro490Arg)
n.3016C>G
n.3011C>G
 ClinVar dbSNP
12g.132661584G=CA2072995662POLEc.428C= (p.Pro143=)
c.2661C=
c.2807C= (p.Pro936=)
c.*2309C= (n.*2309C=)
c.2726C= (p.Pro909=)
c.*1854C= (n.*1854C=)
c.2678C= (p.Pro893=)
c.1886C= (p.Pro629=)
c.1469C= (p.Pro490=)
n.3016C=
n.3011C=
12g.132661584G>TCA387393724POLEc.428C>A (p.Pro143His)
c.2661C>A
c.2807C>A (p.Pro936His)
c.*2309C>A (n.*2309C>A)
c.2726C>A (p.Pro909His)
c.*1854C>A (n.*1854C>A)
c.2678C>A (p.Pro893His)
c.1886C>A (p.Pro629His)
c.1469C>A (p.Pro490His)
n.3016C>A
n.3011C>A
 dbSNP
12g.132661585G>ACA387393726POLEc.427C>T (p.Pro143Ser)
c.2660C>T
c.2806C>T (p.Pro936Ser)
c.*2308C>T (n.*2308C>T)
c.2725C>T (p.Pro909Ser)
c.*1853C>T (n.*1853C>T)
c.2677C>T (p.Pro893Ser)
c.1885C>T (p.Pro629Ser)
c.1468C>T (p.Pro490Ser)
n.3015C>T
n.3010C>T
 ClinVar dbSNP
12g.132661585G>CCA387393728POLEc.427C>G (p.Pro143Ala)
c.2660C>G
c.2806C>G (p.Pro936Ala)
c.*2308C>G (n.*2308C>G)
c.2725C>G (p.Pro909Ala)
c.*1853C>G (n.*1853C>G)
c.2677C>G (p.Pro893Ala)
c.1885C>G (p.Pro629Ala)
c.1468C>G (p.Pro490Ala)
n.3015C>G
n.3010C>G
12g.132661585G>TCA387393730POLEc.427C>A (p.Pro143Thr)
c.2660C>A
c.2806C>A (p.Pro936Thr)
c.*2308C>A (n.*2308C>A)
c.2725C>A (p.Pro909Thr)
c.*1853C>A (n.*1853C>A)
c.2677C>A (p.Pro893Thr)
c.1885C>A (p.Pro629Thr)
c.1468C>A (p.Pro490Thr)
n.3015C>A
n.3010C>A
12g.132661586C>ACA482735586POLEc.426G>T (p.Gly142=)
c.2659G>T
c.2805G>T (p.Gly935=)
c.*2307G>T (n.*2307G>T)
c.2724G>T (p.Gly908=)
c.*1852G>T (n.*1852G>T)
c.2676G>T (p.Gly892=)
c.1884G>T (p.Gly628=)
c.1467G>T (p.Gly489=)
n.3014G>T
n.3009G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.132661586C=CA2072995663POLEc.426G= (p.Gly142=)
c.2659G=
c.2805G= (p.Gly935=)
c.*2307G= (n.*2307G=)
c.2724G= (p.Gly908=)
c.*1852G= (n.*1852G=)
c.2676G= (p.Gly892=)
c.1884G= (p.Gly628=)
c.1467G= (p.Gly489=)
n.3014G=
n.3009G=
12g.132661586C>GCA482735587POLEc.426G>C (p.Gly142=)
c.2659G>C
c.2805G>C (p.Gly935=)
c.*2307G>C (n.*2307G>C)
c.2724G>C (p.Gly908=)
c.*1852G>C (n.*1852G>C)
c.2676G>C (p.Gly892=)
c.1884G>C (p.Gly628=)
c.1467G>C (p.Gly489=)
n.3014G>C
n.3009G>C
 dbSNP
12g.132661586C>TCA482735588POLEc.426G>A (p.Gly142=)
c.2659G>A
c.2805G>A (p.Gly935=)
c.*2307G>A (n.*2307G>A)
c.2724G>A (p.Gly908=)
c.*1852G>A (n.*1852G>A)
c.2676G>A (p.Gly892=)
c.1884G>A (p.Gly628=)
c.1467G>A (p.Gly489=)
n.3014G>A
n.3009G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.132661587C>ACA387393731POLEc.425G>T (p.Gly142Val)
c.2658G>T
c.2804G>T (p.Gly935Val)
c.*2306G>T (n.*2306G>T)
c.2723G>T (p.Gly908Val)
c.*1851G>T (n.*1851G>T)
c.2675G>T (p.Gly892Val)
c.1883G>T (p.Gly628Val)
c.1466G>T (p.Gly489Val)
n.3013G>T
n.3008G>T
 dbSNP
12g.132661587C>GCA387393732POLEc.425G>C (p.Gly142Ala)
c.2658G>C
c.2804G>C (p.Gly935Ala)
c.*2306G>C (n.*2306G>C)
c.2723G>C (p.Gly908Ala)
c.*1851G>C (n.*1851G>C)
c.2675G>C (p.Gly892Ala)
c.1883G>C (p.Gly628Ala)
c.1466G>C (p.Gly489Ala)
n.3013G>C
n.3008G>C
 dbSNP
12g.132661587C>TCA387393734POLEc.425G>A (p.Gly142Glu)
c.2658G>A
c.2804G>A (p.Gly935Glu)
c.*2306G>A (n.*2306G>A)
c.2723G>A (p.Gly908Glu)
c.*1851G>A (n.*1851G>A)
c.2675G>A (p.Gly892Glu)
c.1883G>A (p.Gly628Glu)
c.1466G>A (p.Gly489Glu)
n.3013G>A
n.3008G>A
 ClinVar dbSNP gnomAD v4
12g.132661588C>ACA387393735POLEc.424G>T (p.Gly142Trp)
c.2657G>T
c.2803G>T (p.Gly935Trp)
c.*2305G>T (n.*2305G>T)
c.2722G>T (p.Gly908Trp)
c.*1850G>T (n.*1850G>T)
c.2674G>T (p.Gly892Trp)
c.1882G>T (p.Gly628Trp)
c.1465G>T (p.Gly489Trp)
n.3012G>T
n.3007G>T
12g.132661588C>GCA387393737POLEc.424G>C (p.Gly142Arg)
c.2657G>C
c.2803G>C (p.Gly935Arg)
c.*2305G>C (n.*2305G>C)
c.2722G>C (p.Gly908Arg)
c.*1850G>C (n.*1850G>C)
c.2674G>C (p.Gly892Arg)
c.1882G>C (p.Gly628Arg)
c.1465G>C (p.Gly489Arg)
n.3012G>C
n.3007G>C
12g.132661588C>TCA387393738POLEc.424G>A (p.Gly142Arg)
c.2657G>A
c.2803G>A (p.Gly935Arg)
c.*2305G>A (n.*2305G>A)
c.2722G>A (p.Gly908Arg)
c.*1850G>A (n.*1850G>A)
c.2674G>A (p.Gly892Arg)
c.1882G>A (p.Gly628Arg)
c.1465G>A (p.Gly489Arg)
n.3012G>A
n.3007G>A
 dbSNP
12g.132661589A=CA2072995664POLEc.423T= (p.Asp141=)
c.2656T=
c.2802T= (p.Asp934=)
c.*2304T= (n.*2304T=)
c.2721T= (p.Asp907=)
c.*1849T= (n.*1849T=)
c.2673T= (p.Asp891=)
c.1881T= (p.Asp627=)
c.1464T= (p.Asp488=)
n.3011T=
n.3006T=
12g.132661589A>CCA387393740POLEc.423T>G (p.Asp141Glu)
c.2656T>G
c.2802T>G (p.Asp934Glu)
c.*2304T>G (n.*2304T>G)
c.2721T>G (p.Asp907Glu)
c.*1849T>G (n.*1849T>G)
c.2673T>G (p.Asp891Glu)
c.1881T>G (p.Asp627Glu)
c.1464T>G (p.Asp488Glu)
n.3011T>G
n.3006T>G
12g.132661589A>GCA482735591POLEc.423T>C (p.Asp141=)
c.2656T>C
c.2802T>C (p.Asp934=)
c.*2304T>C (n.*2304T>C)
c.2721T>C (p.Asp907=)
c.*1849T>C (n.*1849T>C)
c.2673T>C (p.Asp891=)
c.1881T>C (p.Asp627=)
c.1464T>C (p.Asp488=)
n.3011T>C
n.3006T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.132661589A>TCA387393742POLEc.423T>A (p.Asp141Glu)
c.2656T>A
c.2802T>A (p.Asp934Glu)
c.*2304T>A (n.*2304T>A)
c.2721T>A (p.Asp907Glu)
c.*1849T>A (n.*1849T>A)
c.2673T>A (p.Asp891Glu)
c.1881T>A (p.Asp627Glu)
c.1464T>A (p.Asp488Glu)
n.3011T>A
n.3006T>A
 dbSNP
12g.132661590T>ACA387393746POLEc.422A>T (p.Asp141Val)
c.2655A>T
c.2801A>T (p.Asp934Val)
c.*2303A>T (n.*2303A>T)
c.2720A>T (p.Asp907Val)
c.*1848A>T (n.*1848A>T)
c.2672A>T (p.Asp891Val)
c.1880A>T (p.Asp627Val)
c.1463A>T (p.Asp488Val)
n.3010A>T
n.3005A>T
 dbSNP gnomAD v2 gnomAD v4
12g.132661590T>CCA387393748POLEc.422A>G (p.Asp141Gly)
c.2655A>G
c.2801A>G (p.Asp934Gly)
c.*2303A>G (n.*2303A>G)
c.2720A>G (p.Asp907Gly)
c.*1848A>G (n.*1848A>G)
c.2672A>G (p.Asp891Gly)
c.1880A>G (p.Asp627Gly)
c.1463A>G (p.Asp488Gly)
n.3010A>G
n.3005A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.132661590T>GCA387393744POLEc.422A>C (p.Asp141Ala)
c.2655A>C
c.2801A>C (p.Asp934Ala)
c.*2303A>C (n.*2303A>C)
c.2720A>C (p.Asp907Ala)
c.*1848A>C (n.*1848A>C)
c.2672A>C (p.Asp891Ala)
c.1880A>C (p.Asp627Ala)
c.1463A>C (p.Asp488Ala)
n.3010A>C
n.3005A>C
12g.132661590T=CA2072995665POLEc.422A= (p.Asp141=)
c.2655A=
c.2801A= (p.Asp934=)
c.*2303A= (n.*2303A=)
c.2720A= (p.Asp907=)
c.*1848A= (n.*1848A=)
c.2672A= (p.Asp891=)
c.1880A= (p.Asp627=)
c.1463A= (p.Asp488=)
n.3010A=
n.3005A=
12g.132661591C>ACA387393750POLEc.421G>T (p.Asp141Tyr)
c.2654G>T
c.2800G>T (p.Asp934Tyr)
c.*2302G>T (n.*2302G>T)
c.2719G>T (p.Asp907Tyr)
c.*1847G>T (n.*1847G>T)
c.2671G>T (p.Asp891Tyr)
c.1879G>T (p.Asp627Tyr)
c.1462G>T (p.Asp488Tyr)
n.3009G>T
n.3004G>T
 dbSNP
12g.132661591C>GCA387393752POLEc.421G>C (p.Asp141His)
c.2654G>C
c.2800G>C (p.Asp934His)
c.*2302G>C (n.*2302G>C)
c.2719G>C (p.Asp907His)
c.*1847G>C (n.*1847G>C)
c.2671G>C (p.Asp891His)
c.1879G>C (p.Asp627His)
c.1462G>C (p.Asp488His)
n.3009G>C
n.3004G>C
 dbSNP
12g.132661591C>TCA387393751POLEc.421G>A (p.Asp141Asn)
c.2654G>A
c.2800G>A (p.Asp934Asn)
c.*2302G>A (n.*2302G>A)
c.2719G>A (p.Asp907Asn)
c.*1847G>A (n.*1847G>A)
c.2671G>A (p.Asp891Asn)
c.1879G>A (p.Asp627Asn)
c.1462G>A (p.Asp488Asn)
n.3009G>A
n.3004G>A
 dbSNP
12g.132661592A>CCA482735595POLEc.420T>G (p.Val140=)
c.2653T>G
c.2799T>G (p.Val933=)
c.*2301T>G (n.*2301T>G)
c.2718T>G (p.Val906=)
c.*1846T>G (n.*1846T>G)
c.2670T>G (p.Val890=)
c.1878T>G (p.Val626=)
c.1461T>G (p.Val487=)
n.3008T>G
n.3003T>G
12g.132661592A>GCA482735596POLEc.420T>C (p.Val140=)
c.2653T>C
c.2799T>C (p.Val933=)
c.*2301T>C (n.*2301T>C)
c.2718T>C (p.Val906=)
c.*1846T>C (n.*1846T>C)
c.2670T>C (p.Val890=)
c.1878T>C (p.Val626=)
c.1461T>C (p.Val487=)
n.3008T>C
n.3003T>C
12g.132661592A>TCA482735597POLEc.420T>A (p.Val140=)
c.2653T>A
c.2799T>A (p.Val933=)
c.*2301T>A (n.*2301T>A)
c.2718T>A (p.Val906=)
c.*1846T>A (n.*1846T>A)
c.2670T>A (p.Val890=)
c.1878T>A (p.Val626=)
c.1461T>A (p.Val487=)
n.3008T>A
n.3003T>A
 dbSNP
12g.132661593A>CCA387393754POLEc.419T>G (p.Val140Gly)
c.2652T>G
c.2798T>G (p.Val933Gly)
c.*2300T>G (n.*2300T>G)
c.2717T>G (p.Val906Gly)
c.*1845T>G (n.*1845T>G)
c.2669T>G (p.Val890Gly)
c.1877T>G (p.Val626Gly)
c.1460T>G (p.Val487Gly)
n.3007T>G
n.3002T>G
12g.132661593A>GCA387393755POLEc.419T>C (p.Val140Ala)
c.2652T>C
c.2798T>C (p.Val933Ala)
c.*2300T>C (n.*2300T>C)
c.2717T>C (p.Val906Ala)
c.*1845T>C (n.*1845T>C)
c.2669T>C (p.Val890Ala)
c.1877T>C (p.Val626Ala)
c.1460T>C (p.Val487Ala)
n.3007T>C
n.3002T>C
 dbSNP
12g.132661593A>TCA387393757POLEc.419T>A (p.Val140Asp)
c.2652T>A
c.2798T>A (p.Val933Asp)
c.*2300T>A (n.*2300T>A)
c.2717T>A (p.Val906Asp)
c.*1845T>A (n.*1845T>A)
c.2669T>A (p.Val890Asp)
c.1877T>A (p.Val626Asp)
c.1460T>A (p.Val487Asp)
n.3007T>A
n.3002T>A
 ClinVar dbSNP
12g.132661594C>ACA387393759POLEc.418G>T (p.Val140Phe)
c.2651G>T
c.2797G>T (p.Val933Phe)
c.*2299G>T (n.*2299G>T)
c.2716G>T (p.Val906Phe)
c.*1844G>T (n.*1844G>T)
c.2668G>T (p.Val890Phe)
c.1876G>T (p.Val626Phe)
c.1459G>T (p.Val487Phe)
n.3006G>T
n.3001G>T
12g.132661594C=CA2072995666POLEc.418G= (p.Val140=)
c.2651G=
c.2797G= (p.Val933=)
c.*2299G= (n.*2299G=)
c.2716G= (p.Val906=)
c.*1844G= (n.*1844G=)
c.2668G= (p.Val890=)
c.1876G= (p.Val626=)
c.1459G= (p.Val487=)
n.3006G=
n.3001G=
12g.132661594C>GCA387393760POLEc.418G>C (p.Val140Leu)
c.2651G>C
c.2797G>C (p.Val933Leu)
c.*2299G>C (n.*2299G>C)
c.2716G>C (p.Val906Leu)
c.*1844G>C (n.*1844G>C)
c.2668G>C (p.Val890Leu)
c.1876G>C (p.Val626Leu)
c.1459G>C (p.Val487Leu)
n.3006G>C
n.3001G>C
 dbSNP
12g.132661594C>TCA387393762POLEc.418G>A (p.Val140Ile)
c.2651G>A
c.2797G>A (p.Val933Ile)
c.*2299G>A (n.*2299G>A)
c.2716G>A (p.Val906Ile)
c.*1844G>A (n.*1844G>A)
c.2668G>A (p.Val890Ile)
c.1876G>A (p.Val626Ile)
c.1459G>A (p.Val487Ile)
n.3006G>A
n.3001G>A
 ClinVar dbSNP gnomAD v2
12g.132661595C>ACA387393764POLEc.417G>T (p.Glu139Asp)
c.2650G>T
c.2796G>T (p.Glu932Asp)
c.*2298G>T (n.*2298G>T)
c.2715G>T (p.Glu905Asp)
c.*1843G>T (n.*1843G>T)
c.2667G>T (p.Glu889Asp)
c.1875G>T (p.Glu625Asp)
c.1458G>T (p.Glu486Asp)
n.3005G>T
n.3000G>T
 dbSNP
12g.132661595C>GCA387393765POLEc.417G>C (p.Glu139Asp)
c.2650G>C
c.2796G>C (p.Glu932Asp)
c.*2298G>C (n.*2298G>C)
c.2715G>C (p.Glu905Asp)
c.*1843G>C (n.*1843G>C)
c.2667G>C (p.Glu889Asp)
c.1875G>C (p.Glu625Asp)
c.1458G>C (p.Glu486Asp)
n.3005G>C
n.3000G>C
 dbSNP
12g.132661595C>TCA482735598POLEc.417G>A (p.Glu139=)
c.2650G>A
c.2796G>A (p.Glu932=)
c.*2298G>A (n.*2298G>A)
c.2715G>A (p.Glu905=)
c.*1843G>A (n.*1843G>A)
c.2667G>A (p.Glu889=)
c.1875G>A (p.Glu625=)
c.1458G>A (p.Glu486=)
n.3005G>A
n.3000G>A
 dbSNP
12g.132661596T>ACA387393767POLEc.416A>T (p.Glu139Val)
c.2649A>T
c.2795A>T (p.Glu932Val)
c.*2297A>T (n.*2297A>T)
c.2714A>T (p.Glu905Val)
c.*1842A>T (n.*1842A>T)
c.2666A>T (p.Glu889Val)
c.1874A>T (p.Glu625Val)
c.1457A>T (p.Glu486Val)
n.3004A>T
n.2999A>T
 dbSNP
12g.132661596T>CCA387393768POLEc.416A>G (p.Glu139Gly)
c.2649A>G
c.2795A>G (p.Glu932Gly)
c.*2297A>G (n.*2297A>G)
c.2714A>G (p.Glu905Gly)
c.*1842A>G (n.*1842A>G)
c.2666A>G (p.Glu889Gly)
c.1874A>G (p.Glu625Gly)
c.1457A>G (p.Glu486Gly)
n.3004A>G
n.2999A>G
 dbSNP
12g.132661596T>GCA387393771POLEc.416A>C (p.Glu139Ala)
c.2649A>C
c.2795A>C (p.Glu932Ala)
c.*2297A>C (n.*2297A>C)
c.2714A>C (p.Glu905Ala)
c.*1842A>C (n.*1842A>C)
c.2666A>C (p.Glu889Ala)
c.1874A>C (p.Glu625Ala)
c.1457A>C (p.Glu486Ala)
n.3004A>C
n.2999A>C
12g.132661597C>ACA387393775POLEc.415G>T (p.Glu139Ter)
c.2648G>T
c.2794G>T (p.Glu932Ter)
c.*2296G>T (n.*2296G>T)
c.2713G>T (p.Glu905Ter)
c.*1841G>T (n.*1841G>T)
c.2665G>T (p.Glu889Ter)
c.1873G>T (p.Glu625Ter)
c.1456G>T (p.Glu486Ter)
n.3003G>T
n.2998G>T
12g.132661597C>GCA387393773POLEc.415G>C (p.Glu139Gln)
c.2648G>C
c.2794G>C (p.Glu932Gln)
c.*2296G>C (n.*2296G>C)
c.2713G>C (p.Glu905Gln)
c.*1841G>C (n.*1841G>C)
c.2665G>C (p.Glu889Gln)
c.1873G>C (p.Glu625Gln)
c.1456G>C (p.Glu486Gln)
n.3003G>C
n.2998G>C
12g.132661597C>TCA387393774POLEc.415G>A (p.Glu139Lys)
c.2648G>A
c.2794G>A (p.Glu932Lys)
c.*2296G>A (n.*2296G>A)
c.2713G>A (p.Glu905Lys)
c.*1841G>A (n.*1841G>A)
c.2665G>A (p.Glu889Lys)
c.1873G>A (p.Glu625Lys)
c.1456G>A (p.Glu486Lys)
n.3003G>A
n.2998G>A
 COSMIC COSMIC
12g.132661598A>CCA387393776POLEc.414T>G (p.Phe138Leu)
c.2647T>G
c.2793T>G (p.Phe931Leu)
c.*2295T>G (n.*2295T>G)
c.2712T>G (p.Phe904Leu)
c.*1840T>G (n.*1840T>G)
c.2664T>G (p.Phe888Leu)
c.1872T>G (p.Phe624Leu)
c.1455T>G (p.Phe485Leu)
n.3002T>G
n.2997T>G
 dbSNP
12g.132661598A>GCA482735600POLEc.414T>C (p.Phe138=)
c.2647T>C
c.2793T>C (p.Phe931=)
c.*2295T>C (n.*2295T>C)
c.2712T>C (p.Phe904=)
c.*1840T>C (n.*1840T>C)
c.2664T>C (p.Phe888=)
c.1872T>C (p.Phe624=)
c.1455T>C (p.Phe485=)
n.3002T>C
n.2997T>C
 gnomAD v4
12g.132661598A>TCA387393777POLEc.414T>A (p.Phe138Leu)
c.2647T>A
c.2793T>A (p.Phe931Leu)
c.*2295T>A (n.*2295T>A)
c.2712T>A (p.Phe904Leu)
c.*1840T>A (n.*1840T>A)
c.2664T>A (p.Phe888Leu)
c.1872T>A (p.Phe624Leu)
c.1455T>A (p.Phe485Leu)
n.3002T>A
n.2997T>A
12g.132661603dupCA2727557676POLEc.414dup (p.Glu139Ter)
c.2647dup
c.2793dup (p.Glu932Ter)
c.*2295dup (n.*2295dup)
c.2712dup (p.Glu905Ter)
c.*1840dup (n.*1840dup)
c.2664dup (p.Glu889Ter)
c.1872dup (p.Glu625Ter)
c.1455dup (p.Glu486Ter)
n.3002dup
n.2997dup
 dbSNP
12g.132661599A=CA2072995667POLEc.413T= (p.Phe138=)
c.2646T=
c.2792T= (p.Phe931=)
c.*2294T= (n.*2294T=)
c.2711T= (p.Phe904=)
c.*1839T= (n.*1839T=)
c.2663T= (p.Phe888=)
c.1871T= (p.Phe624=)
c.1454T= (p.Phe485=)
n.3001T=
n.2996T=
12g.132661599A>CCA387393778POLEc.413T>G (p.Phe138Cys)
c.2646T>G
c.2792T>G (p.Phe931Cys)
c.*2294T>G (n.*2294T>G)
c.2711T>G (p.Phe904Cys)
c.*1839T>G (n.*1839T>G)
c.2663T>G (p.Phe888Cys)
c.1871T>G (p.Phe624Cys)
c.1454T>G (p.Phe485Cys)
n.3001T>G
n.2996T>G
12g.132661599A>GCA6893445POLEc.413T>C (p.Phe138Ser)
c.2646T>C
c.2792T>C (p.Phe931Ser)
c.*2294T>C (n.*2294T>C)
c.2711T>C (p.Phe904Ser)
c.*1839T>C (n.*1839T>C)
c.2663T>C (p.Phe888Ser)
c.1871T>C (p.Phe624Ser)
c.1454T>C (p.Phe485Ser)
n.3001T>C
n.2996T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.132661599A>TCA387393781POLEc.413T>A (p.Phe138Tyr)
c.2646T>A
c.2792T>A (p.Phe931Tyr)
c.*2294T>A (n.*2294T>A)
c.2711T>A (p.Phe904Tyr)
c.*1839T>A (n.*1839T>A)
c.2663T>A (p.Phe888Tyr)
c.1871T>A (p.Phe624Tyr)
c.1454T>A (p.Phe485Tyr)
n.3001T>A
n.2996T>A
 dbSNP
12g.132661600A>CCA387393783POLEc.412T>G (p.Phe138Val)
c.2645T>G
c.2791T>G (p.Phe931Val)
c.*2293T>G (n.*2293T>G)
c.2710T>G (p.Phe904Val)
c.*1838T>G (n.*1838T>G)
c.2662T>G (p.Phe888Val)
c.1870T>G (p.Phe624Val)
c.1453T>G (p.Phe485Val)
n.3000T>G
n.2995T>G
12g.132661600A>GCA387393784POLEc.412T>C (p.Phe138Leu)
c.2645T>C
c.2791T>C (p.Phe931Leu)
c.*2293T>C (n.*2293T>C)
c.2710T>C (p.Phe904Leu)
c.*1838T>C (n.*1838T>C)
c.2662T>C (p.Phe888Leu)
c.1870T>C (p.Phe624Leu)
c.1453T>C (p.Phe485Leu)
n.3000T>C
n.2995T>C
 dbSNP
12g.132661600A>TCA387393786POLEc.412T>A (p.Phe138Ile)
c.2645T>A
c.2791T>A (p.Phe931Ile)
c.*2293T>A (n.*2293T>A)
c.2710T>A (p.Phe904Ile)
c.*1838T>A (n.*1838T>A)
c.2662T>A (p.Phe888Ile)
c.1870T>A (p.Phe624Ile)
c.1453T>A (p.Phe485Ile)
n.3000T>A
n.2995T>A
12g.132661601A>CCA387393787POLEc.411T>G (p.Phe137Leu)
c.2644T>G
c.2790T>G (p.Phe930Leu)
c.*2292T>G (n.*2292T>G)
c.2709T>G (p.Phe903Leu)
c.*1837T>G (n.*1837T>G)
c.2661T>G (p.Phe887Leu)
c.1869T>G (p.Phe623Leu)
c.1452T>G (p.Phe484Leu)
n.2999T>G
n.2994T>G
12g.132661601A>GCA482735603POLEc.411T>C (p.Phe137=)
c.2644T>C
c.2790T>C (p.Phe930=)
c.*2292T>C (n.*2292T>C)
c.2709T>C (p.Phe903=)
c.*1837T>C (n.*1837T>C)
c.2661T>C (p.Phe887=)
c.1869T>C (p.Phe623=)
c.1452T>C (p.Phe484=)
n.2999T>C
n.2994T>C
 gnomAD v4
12g.132661601A>TCA387393788POLEc.411T>A (p.Phe137Leu)
c.2644T>A
c.2790T>A (p.Phe930Leu)
c.*2292T>A (n.*2292T>A)
c.2709T>A (p.Phe903Leu)
c.*1837T>A (n.*1837T>A)
c.2661T>A (p.Phe887Leu)
c.1869T>A (p.Phe623Leu)
c.1452T>A (p.Phe484Leu)
n.2999T>A
n.2994T>A
12g.132661602A=CA2072995668POLEc.410T= (p.Phe137=)
c.2643T=
c.2789T= (p.Phe930=)
c.*2291T= (n.*2291T=)
c.2708T= (p.Phe903=)
c.*1836T= (n.*1836T=)
c.2660T= (p.Phe887=)
c.1868T= (p.Phe623=)
c.1451T= (p.Phe484=)
n.2998T=
n.2993T=
12g.132661602A>CCA387393793POLEc.410T>G (p.Phe137Cys)
c.2643T>G
c.2789T>G (p.Phe930Cys)
c.*2291T>G (n.*2291T>G)
c.2708T>G (p.Phe903Cys)
c.*1836T>G (n.*1836T>G)
c.2660T>G (p.Phe887Cys)
c.1868T>G (p.Phe623Cys)
c.1451T>G (p.Phe484Cys)
n.2998T>G
n.2993T>G
12g.132661602A>GCA387393791POLEc.410T>C (p.Phe137Ser)
c.2643T>C
c.2789T>C (p.Phe930Ser)
c.*2291T>C (n.*2291T>C)
c.2708T>C (p.Phe903Ser)
c.*1836T>C (n.*1836T>C)
c.2660T>C (p.Phe887Ser)
c.1868T>C (p.Phe623Ser)
c.1451T>C (p.Phe484Ser)
n.2998T>C
n.2993T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.132661602A>TCA387393789POLEc.410T>A (p.Phe137Tyr)
c.2643T>A
c.2789T>A (p.Phe930Tyr)
c.*2291T>A (n.*2291T>A)
c.2708T>A (p.Phe903Tyr)
c.*1836T>A (n.*1836T>A)
c.2660T>A (p.Phe887Tyr)
c.1868T>A (p.Phe623Tyr)
c.1451T>A (p.Phe484Tyr)
n.2998T>A
n.2993T>A
 dbSNP
12g.132661603A>CCA387393794POLEc.409T>G (p.Phe137Val)
c.2642T>G
c.2788T>G (p.Phe930Val)
c.*2290T>G (n.*2290T>G)
c.2707T>G (p.Phe903Val)
c.*1835T>G (n.*1835T>G)
c.2659T>G (p.Phe887Val)
c.1867T>G (p.Phe623Val)
c.1450T>G (p.Phe484Val)
n.2997T>G
n.2992T>G
12g.132661603A>GCA387393796POLEc.409T>C (p.Phe137Leu)
c.2642T>C
c.2788T>C (p.Phe930Leu)
c.*2290T>C (n.*2290T>C)
c.2707T>C (p.Phe903Leu)
c.*1835T>C (n.*1835T>C)
c.2659T>C (p.Phe887Leu)
c.1867T>C (p.Phe623Leu)
c.1450T>C (p.Phe484Leu)
n.2997T>C
n.2992T>C
 dbSNP
12g.132661603A>TCA387393798POLEc.409T>A (p.Phe137Ile)
c.2642T>A
c.2788T>A (p.Phe930Ile)
c.*2290T>A (n.*2290T>A)
c.2707T>A (p.Phe903Ile)
c.*1835T>A (n.*1835T>A)
c.2659T>A (p.Phe887Ile)
c.1867T>A (p.Phe623Ile)
c.1450T>A (p.Phe484Ile)
n.2997T>A
n.2992T>A
12g.132661604G>ACA482735608POLEc.408C>T (p.Ile136=)
c.2641C>T
c.2787C>T (p.Ile929=)
c.*2289C>T (n.*2289C>T)
c.2706C>T (p.Ile902=)
c.*1834C>T (n.*1834C>T)
c.2658C>T (p.Ile886=)
c.1866C>T (p.Ile622=)
c.1449C>T (p.Ile483=)
n.2996C>T
n.2991C>T
 dbSNP
12g.132661604G>CCA387393800POLEc.408C>G (p.Ile136Met)
c.2641C>G
c.2787C>G (p.Ile929Met)
c.*2289C>G (n.*2289C>G)
c.2706C>G (p.Ile902Met)
c.*1834C>G (n.*1834C>G)
c.2658C>G (p.Ile886Met)
c.1866C>G (p.Ile622Met)
c.1449C>G (p.Ile483Met)
n.2996C>G
n.2991C>G
 dbSNP
12g.132661604G>TCA482735609POLEc.408C>A (p.Ile136=)
c.2641C>A
c.2787C>A (p.Ile929=)
c.*2289C>A (n.*2289C>A)
c.2706C>A (p.Ile902=)
c.*1834C>A (n.*1834C>A)
c.2658C>A (p.Ile886=)
c.1866C>A (p.Ile622=)
c.1449C>A (p.Ile483=)
n.2996C>A
n.2991C>A
12g.132661605A>CCA387393801POLEc.407T>G (p.Ile136Ser)
c.2640T>G
c.2786T>G (p.Ile929Ser)
c.*2288T>G (n.*2288T>G)
c.2705T>G (p.Ile902Ser)
c.*1833T>G (n.*1833T>G)
c.2657T>G (p.Ile886Ser)
c.1865T>G (p.Ile622Ser)
c.1448T>G (p.Ile483Ser)
n.2995T>G
n.2990T>G
12g.132661605A>GCA387393803POLEc.407T>C (p.Ile136Thr)
c.2640T>C
c.2786T>C (p.Ile929Thr)
c.*2288T>C (n.*2288T>C)
c.2705T>C (p.Ile902Thr)
c.*1833T>C (n.*1833T>C)
c.2657T>C (p.Ile886Thr)
c.1865T>C (p.Ile622Thr)
c.1448T>C (p.Ile483Thr)
n.2995T>C
n.2990T>C
12g.132661605A>TCA387393805POLEc.407T>A (p.Ile136Asn)
c.2640T>A
c.2786T>A (p.Ile929Asn)
c.*2288T>A (n.*2288T>A)
c.2705T>A (p.Ile902Asn)
c.*1833T>A (n.*1833T>A)
c.2657T>A (p.Ile886Asn)
c.1865T>A (p.Ile622Asn)
c.1448T>A (p.Ile483Asn)
n.2995T>A
n.2990T>A
 ClinVar dbSNP
12g.132661606T>ACA387393806POLEc.406A>T (p.Ile136Phe)
c.2639A>T
c.2785A>T (p.Ile929Phe)
c.*2287A>T (n.*2287A>T)
c.2704A>T (p.Ile902Phe)
c.*1832A>T (n.*1832A>T)
c.2656A>T (p.Ile886Phe)
c.1864A>T (p.Ile622Phe)
c.1447A>T (p.Ile483Phe)
n.2994A>T
n.2989A>T
 dbSNP gnomAD v4
12g.132661606T>CCA246317390POLEc.406A>G (p.Ile136Val)
c.2639A>G
c.2785A>G (p.Ile929Val)
c.*2287A>G (n.*2287A>G)
c.2704A>G (p.Ile902Val)
c.*1832A>G (n.*1832A>G)
c.2656A>G (p.Ile886Val)
c.1864A>G (p.Ile622Val)
c.1447A>G (p.Ile483Val)
n.2994A>G
n.2989A>G
 ClinVar dbSNP gnomAD v4
12g.132661606T>GCA387393808POLEc.406A>C (p.Ile136Leu)
c.2639A>C
c.2785A>C (p.Ile929Leu)
c.*2287A>C (n.*2287A>C)
c.2704A>C (p.Ile902Leu)
c.*1832A>C (n.*1832A>C)
c.2656A>C (p.Ile886Leu)
c.1864A>C (p.Ile622Leu)
c.1447A>C (p.Ile483Leu)
n.2994A>C
n.2989A>C
 ClinVar gnomAD v4
12g.132661606T=CA2072995669POLEc.406A= (p.Ile136=)
c.2639A=
c.2785A= (p.Ile929=)
c.*2287A= (n.*2287A=)
c.2704A= (p.Ile902=)
c.*1832A= (n.*1832A=)
c.2656A= (p.Ile886=)
c.1864A= (p.Ile622=)
c.1447A= (p.Ile483=)
n.2994A=
n.2989A=
12g.132661607G>ACA482735612POLEc.405C>T (p.Ser135=)
c.2638C>T
c.2784C>T (p.Ser928=)
c.*2286C>T (n.*2286C>T)
c.2703C>T (p.Ser901=)
c.*1831C>T (n.*1831C>T)
c.2655C>T (p.Ser885=)
c.1863C>T (p.Ser621=)
c.1446C>T (p.Ser482=)
n.2993C>T
n.2988C>T
 ClinVar dbSNP gnomAD v4
12g.132661607G>CCA387393810POLEc.405C>G (p.Ser135Arg)
c.2638C>G
c.2784C>G (p.Ser928Arg)
c.*2286C>G (n.*2286C>G)
c.2703C>G (p.Ser901Arg)
c.*1831C>G (n.*1831C>G)
c.2655C>G (p.Ser885Arg)
c.1863C>G (p.Ser621Arg)
c.1446C>G (p.Ser482Arg)
n.2993C>G
n.2988C>G
 dbSNP
12g.132661607G=CA2072995670POLEc.405C= (p.Ser135=)
c.2638C=
c.2784C= (p.Ser928=)
c.*2286C= (n.*2286C=)
c.2703C= (p.Ser901=)
c.*1831C= (n.*1831C=)
c.2655C= (p.Ser885=)
c.1863C= (p.Ser621=)
c.1446C= (p.Ser482=)
n.2993C=
n.2988C=
12g.132661607G>TCA246317393POLEc.405C>A (p.Ser135Arg)
c.2638C>A
c.2784C>A (p.Ser928Arg)
c.*2286C>A (n.*2286C>A)
c.2703C>A (p.Ser901Arg)
c.*1831C>A (n.*1831C>A)
c.2655C>A (p.Ser885Arg)
c.1863C>A (p.Ser621Arg)
c.1446C>A (p.Ser482Arg)
n.2993C>A
n.2988C>A
 ClinVar dbSNP gnomAD v4
12g.132661608C>ACA387393815POLEc.404G>T (p.Ser135Ile)
c.2637G>T
c.2783G>T (p.Ser928Ile)
c.*2285G>T (n.*2285G>T)
c.2702G>T (p.Ser901Ile)
c.*1830G>T (n.*1830G>T)
c.2654G>T (p.Ser885Ile)
c.1862G>T (p.Ser621Ile)
c.1445G>T (p.Ser482Ile)
n.2992G>T
n.2987G>T
12g.132661608C=CA2072995671POLEc.404G= (p.Ser135=)
c.2637G=
c.2783G= (p.Ser928=)
c.*2285G= (n.*2285G=)
c.2702G= (p.Ser901=)
c.*1830G= (n.*1830G=)
c.2654G= (p.Ser885=)
c.1862G= (p.Ser621=)
c.1445G= (p.Ser482=)
n.2992G=
n.2987G=
12g.132661608C>GCA387393812POLEc.404G>C (p.Ser135Thr)
c.2637G>C
c.2783G>C (p.Ser928Thr)
c.*2285G>C (n.*2285G>C)
c.2702G>C (p.Ser901Thr)
c.*1830G>C (n.*1830G>C)
c.2654G>C (p.Ser885Thr)
c.1862G>C (p.Ser621Thr)
c.1445G>C (p.Ser482Thr)
n.2992G>C
n.2987G>C
 ClinVar dbSNP
12g.132661608C>TCA387393814POLEc.404G>A (p.Ser135Asn)
c.2637G>A
c.2783G>A (p.Ser928Asn)
c.*2285G>A (n.*2285G>A)
c.2702G>A (p.Ser901Asn)
c.*1830G>A (n.*1830G>A)
c.2654G>A (p.Ser885Asn)
c.1862G>A (p.Ser621Asn)
c.1445G>A (p.Ser482Asn)
n.2992G>A
n.2987G>A
 dbSNP
12g.132661609T>ACA387393817POLEc.403A>T (p.Ser135Cys)
c.2636A>T
c.2782A>T (p.Ser928Cys)
c.*2284A>T (n.*2284A>T)
c.2701A>T (p.Ser901Cys)
c.*1829A>T (n.*1829A>T)
c.2653A>T (p.Ser885Cys)
c.1861A>T (p.Ser621Cys)
c.1444A>T (p.Ser482Cys)
n.2991A>T
n.2986A>T
12g.132661609T>CCA387393818POLEc.403A>G (p.Ser135Gly)
c.2636A>G
c.2782A>G (p.Ser928Gly)
c.*2284A>G (n.*2284A>G)
c.2701A>G (p.Ser901Gly)
c.*1829A>G (n.*1829A>G)
c.2653A>G (p.Ser885Gly)
c.1861A>G (p.Ser621Gly)
c.1444A>G (p.Ser482Gly)
n.2991A>G
n.2986A>G
 ClinVar dbSNP gnomAD v4
12g.132661609T>GCA387393819POLEc.403A>C (p.Ser135Arg)
c.2636A>C
c.2782A>C (p.Ser928Arg)
c.*2284A>C (n.*2284A>C)
c.2701A>C (p.Ser901Arg)
c.*1829A>C (n.*1829A>C)
c.2653A>C (p.Ser885Arg)
c.1861A>C (p.Ser621Arg)
c.1444A>C (p.Ser482Arg)
n.2991A>C
n.2986A>C
12g.132661609T=CA2072995672POLEc.403A= (p.Ser135=)
c.2636A=
c.2782A= (p.Ser928=)
c.*2284A= (n.*2284A=)
c.2701A= (p.Ser901=)
c.*1829A= (n.*1829A=)
c.2653A= (p.Ser885=)
c.1861A= (p.Ser621=)
c.1444A= (p.Ser482=)
n.2991A=
n.2986A=
12g.132661610G>ACA6893446POLEc.402C>T (p.Asn134=)
c.2635C>T
c.2781C>T (p.Asn927=)
c.*2283C>T (n.*2283C>T)
c.2700C>T (p.Asn900=)
c.*1828C>T (n.*1828C>T)
c.2652C>T (p.Asn884=)
c.1860C>T (p.Asn620=)
c.1443C>T (p.Asn481=)
n.2990C>T
n.2985C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.132661610G>CCA387393821POLEc.402C>G (p.Asn134Lys)
c.2635C>G
c.2781C>G (p.Asn927Lys)
c.*2283C>G (n.*2283C>G)
c.2700C>G (p.Asn900Lys)
c.*1828C>G (n.*1828C>G)
c.2652C>G (p.Asn884Lys)
c.1860C>G (p.Asn620Lys)
c.1443C>G (p.Asn481Lys)
n.2990C>G
n.2985C>G
 dbSNP
12g.132661610G=CA2072995673POLEc.402C= (p.Asn134=)
c.2635C=
c.2781C= (p.Asn927=)
c.*2283C= (n.*2283C=)
c.2700C= (p.Asn900=)
c.*1828C= (n.*1828C=)
c.2652C= (p.Asn884=)
c.1860C= (p.Asn620=)
c.1443C= (p.Asn481=)
n.2990C=
n.2985C=
12g.132661610G>TCA387393823POLEc.402C>A (p.Asn134Lys)
c.2635C>A
c.2781C>A (p.Asn927Lys)
c.*2283C>A (n.*2283C>A)
c.2700C>A (p.Asn900Lys)
c.*1828C>A (n.*1828C>A)
c.2652C>A (p.Asn884Lys)
c.1860C>A (p.Asn620Lys)
c.1443C>A (p.Asn481Lys)
n.2990C>A
n.2985C>A
 dbSNP
12g.132661611T>ACA387393825POLEc.401A>T (p.Asn134Ile)
c.2634A>T
c.2780A>T (p.Asn927Ile)
c.*2282A>T (n.*2282A>T)
c.2699A>T (p.Asn900Ile)
c.*1827A>T (n.*1827A>T)
c.2651A>T (p.Asn884Ile)
c.1859A>T (p.Asn620Ile)
c.1442A>T (p.Asn481Ile)
n.2989A>T
n.2984A>T
 dbSNP
12g.132661611T>CCA387393826POLEc.401A>G (p.Asn134Ser)
c.2634A>G
c.2780A>G (p.Asn927Ser)
c.*2282A>G (n.*2282A>G)
c.2699A>G (p.Asn900Ser)
c.*1827A>G (n.*1827A>G)
c.2651A>G (p.Asn884Ser)
c.1859A>G (p.Asn620Ser)
c.1442A>G (p.Asn481Ser)
n.2989A>G
n.2984A>G
12g.132661611T>GCA387393828POLEc.401A>C (p.Asn134Thr)
c.2634A>C
c.2780A>C (p.Asn927Thr)
c.*2282A>C (n.*2282A>C)
c.2699A>C (p.Asn900Thr)
c.*1827A>C (n.*1827A>C)
c.2651A>C (p.Asn884Thr)
c.1859A>C (p.Asn620Thr)
c.1442A>C (p.Asn481Thr)
n.2989A>C
n.2984A>C
 dbSNP
12g.132661612T>ACA387393830POLEc.400A>T (p.Asn134Tyr)
c.2633A>T
c.2779A>T (p.Asn927Tyr)
c.*2281A>T (n.*2281A>T)
c.2698A>T (p.Asn900Tyr)
c.*1826A>T (n.*1826A>T)
c.2650A>T (p.Asn884Tyr)
c.1858A>T (p.Asn620Tyr)
c.1441A>T (p.Asn481Tyr)
n.2988A>T
n.2983A>T
 dbSNP
12g.132661612T>CCA387393831POLEc.400A>G (p.Asn134Asp)
c.2633A>G
c.2779A>G (p.Asn927Asp)
c.*2281A>G (n.*2281A>G)
c.2698A>G (p.Asn900Asp)
c.*1826A>G (n.*1826A>G)
c.2650A>G (p.Asn884Asp)
c.1858A>G (p.Asn620Asp)
c.1441A>G (p.Asn481Asp)
n.2988A>G
n.2983A>G
12g.132661612T>GCA387393833POLEc.400A>C (p.Asn134His)
c.2633A>C
c.2779A>C (p.Asn927His)
c.*2281A>C (n.*2281A>C)
c.2698A>C (p.Asn900His)
c.*1826A>C (n.*1826A>C)
c.2650A>C (p.Asn884His)
c.1858A>C (p.Asn620His)
c.1441A>C (p.Asn481His)
n.2988A>C
n.2983A>C
12g.132661613C>ACA387393836POLEc.399G>T (p.Glu133Asp)
c.2632G>T
c.2778G>T (p.Glu926Asp)
c.*2280G>T (n.*2280G>T)
c.2697G>T (p.Glu899Asp)
c.*1825G>T (n.*1825G>T)
c.2649G>T (p.Glu883Asp)
c.1857G>T (p.Glu619Asp)
c.1440G>T (p.Glu480Asp)
n.2987G>T
n.2982G>T
 dbSNP gnomAD v4
12g.132661613C>GCA387393834POLEc.399G>C (p.Glu133Asp)
c.2632G>C
c.2778G>C (p.Glu926Asp)
c.*2280G>C (n.*2280G>C)
c.2697G>C (p.Glu899Asp)
c.*1825G>C (n.*1825G>C)
c.2649G>C (p.Glu883Asp)
c.1857G>C (p.Glu619Asp)
c.1440G>C (p.Glu480Asp)
n.2987G>C
n.2982G>C
 dbSNP
12g.132661613C>TCA482735618POLEc.399G>A (p.Glu133=)
c.2632G>A
c.2778G>A (p.Glu926=)
c.*2280G>A (n.*2280G>A)
c.2697G>A (p.Glu899=)
c.*1825G>A (n.*1825G>A)
c.2649G>A (p.Glu883=)
c.1857G>A (p.Glu619=)
c.1440G>A (p.Glu480=)
n.2987G>A
n.2982G>A
 dbSNP
12g.132661614T>ACA387393838POLEc.398A>T (p.Glu133Val)
c.2631A>T
c.2777A>T (p.Glu926Val)
c.*2279A>T (n.*2279A>T)
c.2696A>T (p.Glu899Val)
c.*1824A>T (n.*1824A>T)
c.2648A>T (p.Glu883Val)
c.1856A>T (p.Glu619Val)
c.1439A>T (p.Glu480Val)
n.2986A>T
n.2981A>T
 dbSNP
12g.132661614T>CCA387393841POLEc.398A>G (p.Glu133Gly)
c.2631A>G
c.2777A>G (p.Glu926Gly)
c.*2279A>G (n.*2279A>G)
c.2696A>G (p.Glu899Gly)
c.*1824A>G (n.*1824A>G)
c.2648A>G (p.Glu883Gly)
c.1856A>G (p.Glu619Gly)
c.1439A>G (p.Glu480Gly)
n.2986A>G
n.2981A>G
12g.132661614T>GCA387393839POLEc.398A>C (p.Glu133Ala)
c.2631A>C
c.2777A>C (p.Glu926Ala)
c.*2279A>C (n.*2279A>C)
c.2696A>C (p.Glu899Ala)
c.*1824A>C (n.*1824A>C)
c.2648A>C (p.Glu883Ala)
c.1856A>C (p.Glu619Ala)
c.1439A>C (p.Glu480Ala)
n.2986A>C
n.2981A>C
12g.132661615C>ACA387393843POLEc.397G>T (p.Glu133Ter)
c.2630G>T
c.2776G>T (p.Glu926Ter)
c.*2278G>T (n.*2278G>T)
c.2695G>T (p.Glu899Ter)
c.*1823G>T (n.*1823G>T)
c.2647G>T (p.Glu883Ter)
c.1855G>T (p.Glu619Ter)
c.1438G>T (p.Glu480Ter)
n.2985G>T
n.2980G>T
 dbSNP
12g.132661615C=CA2072995674POLEc.397G= (p.Glu133=)
c.2630G=
c.2776G= (p.Glu926=)
c.*2278G= (n.*2278G=)
c.2695G= (p.Glu899=)
c.*1823G= (n.*1823G=)
c.2647G= (p.Glu883=)
c.1855G= (p.Glu619=)
c.1438G= (p.Glu480=)
n.2985G=
n.2980G=
12g.132661615C>GCA387393846POLEc.397G>C (p.Glu133Gln)
c.2630G>C
c.2776G>C (p.Glu926Gln)
c.*2278G>C (n.*2278G>C)
c.2695G>C (p.Glu899Gln)
c.*1823G>C (n.*1823G>C)
c.2647G>C (p.Glu883Gln)
c.1855G>C (p.Glu619Gln)
c.1438G>C (p.Glu480Gln)
n.2985G>C
n.2980G>C
 dbSNP gnomAD v4
12g.132661615C>TCA387393844POLEc.397G>A (p.Glu133Lys)
c.2630G>A
c.2776G>A (p.Glu926Lys)
c.*2278G>A (n.*2278G>A)
c.2695G>A (p.Glu899Lys)
c.*1823G>A (n.*1823G>A)
c.2647G>A (p.Glu883Lys)
c.1855G>A (p.Glu619Lys)
c.1438G>A (p.Glu480Lys)
n.2985G>A
n.2980G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.132661616T>ACA482735619POLEc.396A>T (p.Ser132=)
c.2629A>T
c.2775A>T (p.Ser925=)
c.*2277A>T (n.*2277A>T)
c.2694A>T (p.Ser898=)
c.*1822A>T (n.*1822A>T)
c.2646A>T (p.Ser882=)
c.1854A>T (p.Ser618=)
c.1437A>T (p.Ser479=)
n.2984A>T
n.2979A>T
 dbSNP
12g.132661616T>CCA482735621POLEc.396A>G (p.Ser132=)
c.2629A>G
c.2775A>G (p.Ser925=)
c.*2277A>G (n.*2277A>G)
c.2694A>G (p.Ser898=)
c.*1822A>G (n.*1822A>G)
c.2646A>G (p.Ser882=)
c.1854A>G (p.Ser618=)
c.1437A>G (p.Ser479=)
n.2984A>G
n.2979A>G
 ClinVar dbSNP
12g.132661616T>GCA482735623POLEc.396A>C (p.Ser132=)
c.2629A>C
c.2775A>C (p.Ser925=)
c.*2277A>C (n.*2277A>C)
c.2694A>C (p.Ser898=)
c.*1822A>C (n.*1822A>C)
c.2646A>C (p.Ser882=)
c.1854A>C (p.Ser618=)
c.1437A>C (p.Ser479=)
n.2984A>C
n.2979A>C
 gnomAD v4
12g.132661617G>ACA246317402POLEc.395C>T (p.Ser132Leu)
c.2628C>T
c.2774C>T (p.Ser925Leu)
c.*2276C>T (n.*2276C>T)
c.2693C>T (p.Ser898Leu)
c.*1821C>T (n.*1821C>T)
c.2645C>T (p.Ser882Leu)
c.1853C>T (p.Ser618Leu)
c.1436C>T (p.Ser479Leu)
n.2983C>T
n.2978C>T
 ClinVar dbSNP gnomAD v4
12g.132661617G>CCA387393848POLEc.395C>G (p.Ser132Ter)
c.2628C>G
c.2774C>G (p.Ser925Ter)
c.*2276C>G (n.*2276C>G)
c.2693C>G (p.Ser898Ter)
c.*1821C>G (n.*1821C>G)
c.2645C>G (p.Ser882Ter)
c.1853C>G (p.Ser618Ter)
c.1436C>G (p.Ser479Ter)
n.2983C>G
n.2978C>G
 ClinVar dbSNP
12g.132661617G=CA2072995675POLEc.395C= (p.Ser132=)
c.2628C=
c.2774C= (p.Ser925=)
c.*2276C= (n.*2276C=)
c.2693C= (p.Ser898=)
c.*1821C= (n.*1821C=)
c.2645C= (p.Ser882=)
c.1853C= (p.Ser618=)
c.1436C= (p.Ser479=)
n.2983C=
n.2978C=
12g.132661617G>TCA387393850POLEc.395C>A (p.Ser132Ter)
c.2628C>A
c.2774C>A (p.Ser925Ter)
c.*2276C>A (n.*2276C>A)
c.2693C>A (p.Ser898Ter)
c.*1821C>A (n.*1821C>A)
c.2645C>A (p.Ser882Ter)
c.1853C>A (p.Ser618Ter)
c.1436C>A (p.Ser479Ter)
n.2983C>A
n.2978C>A
12g.132661618A=CA2072995676POLEc.394T= (p.Ser132=)
c.2627T=
c.2773T= (p.Ser925=)
c.*2275T= (n.*2275T=)
c.2692T= (p.Ser898=)
c.*1820T= (n.*1820T=)
c.2644T= (p.Ser882=)
c.1852T= (p.Ser618=)
c.1435T= (p.Ser479=)
n.2982T=
n.2977T=
12g.132661618A>CCA387393852POLEc.394T>G (p.Ser132Ala)
c.2627T>G
c.2773T>G (p.Ser925Ala)
c.*2275T>G (n.*2275T>G)
c.2692T>G (p.Ser898Ala)
c.*1820T>G (n.*1820T>G)
c.2644T>G (p.Ser882Ala)
c.1852T>G (p.Ser618Ala)
c.1435T>G (p.Ser479Ala)
n.2982T>G
n.2977T>G
12g.132661618A>GCA6893447POLEc.394T>C (p.Ser132Pro)
c.2627T>C
c.2773T>C (p.Ser925Pro)
c.*2275T>C (n.*2275T>C)
c.2692T>C (p.Ser898Pro)
c.*1820T>C (n.*1820T>C)
c.2644T>C (p.Ser882Pro)
c.1852T>C (p.Ser618Pro)
c.1435T>C (p.Ser479Pro)
n.2982T>C
n.2977T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.132661618A>TCA387393853POLEc.394T>A (p.Ser132Thr)
c.2627T>A
c.2773T>A (p.Ser925Thr)
c.*2275T>A (n.*2275T>A)
c.2692T>A (p.Ser898Thr)
c.*1820T>A (n.*1820T>A)
c.2644T>A (p.Ser882Thr)
c.1852T>A (p.Ser618Thr)
c.1435T>A (p.Ser479Thr)
n.2982T>A
n.2977T>A
 dbSNP
12g.132661619G>ACA482735627POLEc.393C>T (p.Arg131=)
c.2626C>T
c.2772C>T (p.Arg924=)
c.*2274C>T (n.*2274C>T)
c.2691C>T (p.Arg897=)
c.*1819C>T (n.*1819C>T)
c.2643C>T (p.Arg881=)
c.1851C>T (p.Arg617=)
c.1434C>T (p.Arg478=)
n.2981C>T
n.2976C>T
12g.132661619G>CCA482735630POLEc.393C>G (p.Arg131=)
c.2626C>G
c.2772C>G (p.Arg924=)
c.*2274C>G (n.*2274C>G)
c.2691C>G (p.Arg897=)
c.*1819C>G (n.*1819C>G)
c.2643C>G (p.Arg881=)
c.1851C>G (p.Arg617=)
c.1434C>G (p.Arg478=)
n.2981C>G
n.2976C>G
 dbSNP
12g.132661619G>TCA482735629POLEc.393C>A (p.Arg131=)
c.2626C>A
c.2772C>A (p.Arg924=)
c.*2274C>A (n.*2274C>A)
c.2691C>A (p.Arg897=)
c.*1819C>A (n.*1819C>A)
c.2643C>A (p.Arg881=)
c.1851C>A (p.Arg617=)
c.1434C>A (p.Arg478=)
n.2981C>A
n.2976C>A
12g.132661620C>ACA387393855POLEc.392G>T (p.Arg131Leu)
c.2625G>T
c.2771G>T (p.Arg924Leu)
c.*2273G>T (n.*2273G>T)
c.2690G>T (p.Arg897Leu)
c.*1818G>T (n.*1818G>T)
c.2642G>T (p.Arg881Leu)
c.1850G>T (p.Arg617Leu)
c.1433G>T (p.Arg478Leu)
n.2980G>T
n.2975G>T
 ClinVar dbSNP
12g.132661620C=CA2072995677POLEc.392G= (p.Arg131=)
c.2625G=
c.2771G= (p.Arg924=)
c.*2273G= (n.*2273G=)
c.2690G= (p.Arg897=)
c.*1818G= (n.*1818G=)
c.2642G= (p.Arg881=)
c.1850G= (p.Arg617=)
c.1433G= (p.Arg478=)
n.2980G=
n.2975G=
12g.132661620C>GCA387393857POLEc.392G>C (p.Arg131Pro)
c.2625G>C
c.2771G>C (p.Arg924Pro)
c.*2273G>C (n.*2273G>C)
c.2690G>C (p.Arg897Pro)
c.*1818G>C (n.*1818G>C)
c.2642G>C (p.Arg881Pro)
c.1850G>C (p.Arg617Pro)
c.1433G>C (p.Arg478Pro)
n.2980G>C
n.2975G>C
 dbSNP
12g.132661620C>TCA6893448POLEc.392G>A (p.Arg131His)
c.2625G>A
c.2771G>A (p.Arg924His)
c.*2273G>A (n.*2273G>A)
c.2690G>A (p.Arg897His)
c.*1818G>A (n.*1818G>A)
c.2642G>A (p.Arg881His)
c.1850G>A (p.Arg617His)
c.1433G>A (p.Arg478His)
n.2980G>A
n.2975G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.132661621G>ACA6893449POLEc.391C>T (p.Arg131Cys)
c.2624C>T
c.2770C>T (p.Arg924Cys)
c.*2272C>T (n.*2272C>T)
c.2689C>T (p.Arg897Cys)
c.*1817C>T (n.*1817C>T)
c.2641C>T (p.Arg881Cys)
c.1849C>T (p.Arg617Cys)
c.1432C>T (p.Arg478Cys)
n.2979C>T
n.2974C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.132661621G>CCA387393860POLEc.391C>G (p.Arg131Gly)
c.2624C>G
c.2770C>G (p.Arg924Gly)
c.*2272C>G (n.*2272C>G)
c.2689C>G (p.Arg897Gly)
c.*1817C>G (n.*1817C>G)
c.2641C>G (p.Arg881Gly)
c.1849C>G (p.Arg617Gly)
c.1432C>G (p.Arg478Gly)
n.2979C>G
n.2974C>G
 ClinVar dbSNP gnomAD v4
12g.132661621G=CA2072995678POLEc.391C= (p.Arg131=)
c.2624C=
c.2770C= (p.Arg924=)
c.*2272C= (n.*2272C=)
c.2689C= (p.Arg897=)
c.*1817C= (n.*1817C=)
c.2641C= (p.Arg881=)
c.1849C= (p.Arg617=)
c.1432C= (p.Arg478=)
n.2979C=
n.2974C=
12g.132661621G>TCA387393862POLEc.391C>A (p.Arg131Ser)
c.2624C>A
c.2770C>A (p.Arg924Ser)
c.*2272C>A (n.*2272C>A)
c.2689C>A (p.Arg897Ser)
c.*1817C>A (n.*1817C>A)
c.2641C>A (p.Arg881Ser)
c.1849C>A (p.Arg617Ser)
c.1432C>A (p.Arg478Ser)
n.2979C>A
n.2974C>A
 ClinVar dbSNP gnomAD v4
12g.132661622G>ACA482735633POLEc.390C>T (p.Thr130=)
c.2623C>T
c.2769C>T (p.Thr923=)
c.*2271C>T (n.*2271C>T)
c.2688C>T (p.Thr896=)
c.*1816C>T (n.*1816C>T)
c.2640C>T (p.Thr880=)
c.1848C>T (p.Thr616=)
c.1431C>T (p.Thr477=)
n.2978C>T
n.2973C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.132661622G>CCA482735637POLEc.390C>G (p.Thr130=)
c.2623C>G
c.2769C>G (p.Thr923=)
c.*2271C>G (n.*2271C>G)
c.2688C>G (p.Thr896=)
c.*1816C>G (n.*1816C>G)
c.2640C>G (p.Thr880=)
c.1848C>G (p.Thr616=)
c.1431C>G (p.Thr477=)
n.2978C>G
n.2973C>G
 dbSNP
12g.132661622G>TCA482735635POLEc.390C>A (p.Thr130=)
c.2623C>A
c.2769C>A (p.Thr923=)
c.*2271C>A (n.*2271C>A)
c.2688C>A (p.Thr896=)
c.*1816C>A (n.*1816C>A)
c.2640C>A (p.Thr880=)
c.1848C>A (p.Thr616=)
c.1431C>A (p.Thr477=)
n.2978C>A
n.2973C>A
 dbSNP
12g.132661623G>ACA387393864POLEc.389C>T (p.Thr130Ile)
c.2622C>T
c.2768C>T (p.Thr923Ile)
c.*2270C>T (n.*2270C>T)
c.2687C>T (p.Thr896Ile)
c.*1815C>T (n.*1815C>T)
c.2639C>T (p.Thr880Ile)
c.1847C>T (p.Thr616Ile)
c.1430C>T (p.Thr477Ile)
n.2977C>T
n.2972C>T
 dbSNP
12g.132661623G>CCA387393868POLEc.389C>G (p.Thr130Ser)
c.2622C>G
c.2768C>G (p.Thr923Ser)
c.*2270C>G (n.*2270C>G)
c.2687C>G (p.Thr896Ser)
c.*1815C>G (n.*1815C>G)
c.2639C>G (p.Thr880Ser)
c.1847C>G (p.Thr616Ser)
c.1430C>G (p.Thr477Ser)
n.2977C>G
n.2972C>G
 ClinVar dbSNP
12g.132661623G>TCA387393866POLEc.389C>A (p.Thr130Asn)
c.2622C>A
c.2768C>A (p.Thr923Asn)
c.*2270C>A (n.*2270C>A)
c.2687C>A (p.Thr896Asn)
c.*1815C>A (n.*1815C>A)
c.2639C>A (p.Thr880Asn)
c.1847C>A (p.Thr616Asn)
c.1430C>A (p.Thr477Asn)
n.2977C>A
n.2972C>A
12g.132661624T>ACA387393869POLEc.388A>T (p.Thr130Ser)
c.2621A>T
c.2767A>T (p.Thr923Ser)
c.*2269A>T (n.*2269A>T)
c.2686A>T (p.Thr896Ser)
c.*1814A>T (n.*1814A>T)
c.2638A>T (p.Thr880Ser)
c.1846A>T (p.Thr616Ser)
c.1429A>T (p.Thr477Ser)
n.2976A>T
n.2971A>T
 dbSNP
12g.132661624T>CCA387393870POLEc.388A>G (p.Thr130Ala)
c.2621A>G
c.2767A>G (p.Thr923Ala)
c.*2269A>G (n.*2269A>G)
c.2686A>G (p.Thr896Ala)
c.*1814A>G (n.*1814A>G)
c.2638A>G (p.Thr880Ala)
c.1846A>G (p.Thr616Ala)
c.1429A>G (p.Thr477Ala)
n.2976A>G
n.2971A>G
 dbSNP
12g.132661624T>GCA387393871POLEc.388A>C (p.Thr130Pro)
c.2621A>C
c.2767A>C (p.Thr923Pro)
c.*2269A>C (n.*2269A>C)
c.2686A>C (p.Thr896Pro)
c.*1814A>C (n.*1814A>C)
c.2638A>C (p.Thr880Pro)
c.1846A>C (p.Thr616Pro)
c.1429A>C (p.Thr477Pro)
n.2976A>C
n.2971A>C
 dbSNP
12g.132661625G>ACA482735640POLEc.387C>T (p.Val129=)
c.2620C>T
c.2766C>T (p.Val922=)
c.*2268C>T (n.*2268C>T)
c.2685C>T (p.Val895=)
c.*1813C>T (n.*1813C>T)
c.2637C>T (p.Val879=)
c.1845C>T (p.Val615=)
c.1428C>T (p.Val476=)
n.2975C>T
n.2970C>T
 ClinVar dbSNP
12g.132661625G>CCA482735639POLEc.387C>G (p.Val129=)
c.2620C>G
c.2766C>G (p.Val922=)
c.*2268C>G (n.*2268C>G)
c.2685C>G (p.Val895=)
c.*1813C>G (n.*1813C>G)
c.2637C>G (p.Val879=)
c.1845C>G (p.Val615=)
c.1428C>G (p.Val476=)
n.2975C>G
n.2970C>G
 dbSNP
12g.132661625G>TCA482735638POLEc.387C>A (p.Val129=)
c.2620C>A
c.2766C>A (p.Val922=)
c.*2268C>A (n.*2268C>A)
c.2685C>A (p.Val895=)
c.*1813C>A (n.*1813C>A)
c.2637C>A (p.Val879=)
c.1845C>A (p.Val615=)
c.1428C>A (p.Val476=)
n.2975C>A
n.2970C>A
 dbSNP
12g.132661626A>CCA387393872POLEc.386T>G (p.Val129Gly)
c.2619T>G
c.2765T>G (p.Val922Gly)
c.*2267T>G (n.*2267T>G)
c.2684T>G (p.Val895Gly)
c.*1812T>G (n.*1812T>G)
c.2636T>G (p.Val879Gly)
c.1844T>G (p.Val615Gly)
c.1427T>G (p.Val476Gly)
n.2974T>G
n.2969T>G
12g.132661626A>GCA387393874POLEc.386T>C (p.Val129Ala)
c.2619T>C
c.2765T>C (p.Val922Ala)
c.*2267T>C (n.*2267T>C)
c.2684T>C (p.Val895Ala)
c.*1812T>C (n.*1812T>C)
c.2636T>C (p.Val879Ala)
c.1844T>C (p.Val615Ala)
c.1427T>C (p.Val476Ala)
n.2974T>C
n.2969T>C
 dbSNP
12g.132661626A>TCA387393876POLEc.386T>A (p.Val129Asp)
c.2619T>A
c.2765T>A (p.Val922Asp)
c.*2267T>A (n.*2267T>A)
c.2684T>A (p.Val895Asp)
c.*1812T>A (n.*1812T>A)
c.2636T>A (p.Val879Asp)
c.1844T>A (p.Val615Asp)
c.1427T>A (p.Val476Asp)
n.2974T>A
n.2969T>A
 dbSNP
12g.132661627C>ACA387393877POLEc.385G>T (p.Val129Phe)
c.2618G>T
c.2764G>T (p.Val922Phe)
c.*2266G>T (n.*2266G>T)
c.2683G>T (p.Val895Phe)
c.*1811G>T (n.*1811G>T)
c.2635G>T (p.Val879Phe)
c.1843G>T (p.Val615Phe)
c.1426G>T (p.Val476Phe)
n.2973G>T
n.2968G>T
 dbSNP
12g.132661627C=CA2072995679POLEc.385G= (p.Val129=)
c.2618G=
c.2764G= (p.Val922=)
c.*2266G= (n.*2266G=)
c.2683G= (p.Val895=)
c.*1811G= (n.*1811G=)
c.2635G= (p.Val879=)
c.1843G= (p.Val615=)
c.1426G= (p.Val476=)
n.2973G=
n.2968G=
12g.132661627C>GCA387393879POLEc.385G>C (p.Val129Leu)
c.2618G>C
c.2764G>C (p.Val922Leu)
c.*2266G>C (n.*2266G>C)
c.2683G>C (p.Val895Leu)
c.*1811G>C (n.*1811G>C)
c.2635G>C (p.Val879Leu)
c.1843G>C (p.Val615Leu)
c.1426G>C (p.Val476Leu)
n.2973G>C
n.2968G>C
 dbSNP
12g.132661627C>TCA6893450POLEc.385G>A (p.Val129Ile)
c.2618G>A
c.2764G>A (p.Val922Ile)
c.*2266G>A (n.*2266G>A)
c.2683G>A (p.Val895Ile)
c.*1811G>A (n.*1811G>A)
c.2635G>A (p.Val879Ile)
c.1843G>A (p.Val615Ile)
c.1426G>A (p.Val476Ile)
n.2973G>A
n.2968G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.132661628G>ACA6893451POLEc.384C>T (p.Tyr128=)
c.2617C>T
c.2763C>T (p.Tyr921=)
c.*2265C>T (n.*2265C>T)
c.2682C>T (p.Tyr894=)
c.*1810C>T (n.*1810C>T)
c.2634C>T (p.Tyr878=)
c.1842C>T (p.Tyr614=)
c.1425C>T (p.Tyr475=)
n.2972C>T
n.2967C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.132661628G>CCA387393884POLEc.384C>G (p.Tyr128Ter)
c.2617C>G
c.2763C>G (p.Tyr921Ter)
c.*2265C>G (n.*2265C>G)
c.2682C>G (p.Tyr894Ter)
c.*1810C>G (n.*1810C>G)
c.2634C>G (p.Tyr878Ter)
c.1842C>G (p.Tyr614Ter)
c.1425C>G (p.Tyr475Ter)
n.2972C>G
n.2967C>G
 ClinVar dbSNP
12g.132661628G=CA2072995680POLEc.384C= (p.Tyr128=)
c.2617C=
c.2763C= (p.Tyr921=)
c.*2265C= (n.*2265C=)
c.2682C= (p.Tyr894=)
c.*1810C= (n.*1810C=)
c.2634C= (p.Tyr878=)
c.1842C= (p.Tyr614=)
c.1425C= (p.Tyr475=)
n.2972C=
n.2967C=
12g.132661628G>TCA387393882POLEc.384C>A (p.Tyr128Ter)
c.2617C>A
c.2763C>A (p.Tyr921Ter)
c.*2265C>A (n.*2265C>A)
c.2682C>A (p.Tyr894Ter)
c.*1810C>A (n.*1810C>A)
c.2634C>A (p.Tyr878Ter)
c.1842C>A (p.Tyr614Ter)
c.1425C>A (p.Tyr475Ter)
n.2972C>A
n.2967C>A
 gnomAD v4

Number of alleles fetched