Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.132661513T>C | CA2622056660 | POLE | c.485+14A>G (n.485+14A>G) c.2718+14A>G c.2864+14A>G (n.2864+14A>G) c.*2366+14A>G (n.*2366+14A>G) c.2783+14A>G (n.2783+14A>G) c.*1911+14A>G (n.*1911+14A>G) c.2735+14A>G (n.2735+14A>G) c.1943+14A>G (n.1943+14A>G) c.1526+14A>G (n.1526+14A>G) n.3073+14A>G n.3068+14A>G | gnomAD v4 |
12 | g.132661514A>G | CA2575358832 | POLE | c.485+13T>C (n.485+13T>C) c.2718+13T>C c.2864+13T>C (n.2864+13T>C) c.*2366+13T>C (n.*2366+13T>C) c.2783+13T>C (n.2783+13T>C) c.*1911+13T>C (n.*1911+13T>C) c.2735+13T>C (n.2735+13T>C) c.1943+13T>C (n.1943+13T>C) c.1526+13T>C (n.1526+13T>C) n.3073+13T>C n.3068+13T>C | ClinVar |
12 | g.132661515T>A | CA2573148202 | POLE | c.485+12A>T (n.485+12A>T) c.2718+12A>T c.2864+12A>T (n.2864+12A>T) c.*2366+12A>T (n.*2366+12A>T) c.2783+12A>T (n.2783+12A>T) c.*1911+12A>T (n.*1911+12A>T) c.2735+12A>T (n.2735+12A>T) c.1943+12A>T (n.1943+12A>T) c.1526+12A>T (n.1526+12A>T) n.3073+12A>T n.3068+12A>T | ClinVar dbSNP |
12 | g.132661515T>C | CA2072995631 | POLE | c.485+12A>G (n.485+12A>G) c.2718+12A>G c.2864+12A>G (n.2864+12A>G) c.*2366+12A>G (n.*2366+12A>G) c.2783+12A>G (n.2783+12A>G) c.*1911+12A>G (n.*1911+12A>G) c.2735+12A>G (n.2735+12A>G) c.1943+12A>G (n.1943+12A>G) c.1526+12A>G (n.1526+12A>G) n.3073+12A>G n.3068+12A>G | ClinVar dbSNP gnomAD v4 |
12 | g.132661515T>G | CA2622056663 | POLE | c.485+12A>C (n.485+12A>C) c.2718+12A>C c.2864+12A>C (n.2864+12A>C) c.*2366+12A>C (n.*2366+12A>C) c.2783+12A>C (n.2783+12A>C) c.*1911+12A>C (n.*1911+12A>C) c.2735+12A>C (n.2735+12A>C) c.1943+12A>C (n.1943+12A>C) c.1526+12A>C (n.1526+12A>C) n.3073+12A>C n.3068+12A>C | gnomAD v4 |
12 | g.132661515T= | CA2072995630 | POLE | c.485+12A= (n.485+12A=) c.2718+12A= c.2864+12A= (n.2864+12A=) c.*2366+12A= (n.*2366+12A=) c.2783+12A= (n.2783+12A=) c.*1911+12A= (n.*1911+12A=) c.2735+12A= (n.2735+12A=) c.1943+12A= (n.1943+12A=) c.1526+12A= (n.1526+12A=) n.3073+12A= n.3068+12A= | |
12 | g.132661515_132661517delinsTGA | CA2072995629 | POLE | c.485+10_485+12delinsTCA (n.485+10_485+12delinsTCA) c.2718+10_2718+12delinsTCA c.2864+10_2864+12delinsTCA (n.2864+10_2864+12delinsTCA) c.*2366+10_*2366+12delinsTCA (n.*2366+10_*2366+12delinsTCA) c.2783+10_2783+12delinsTCA (n.2783+10_2783+12delinsTCA) c.*1911+10_*1911+12delinsTCA (n.*1911+10_*1911+12delinsTCA) c.2735+10_2735+12delinsTCA (n.2735+10_2735+12delinsTCA) c.1943+10_1943+12delinsTCA (n.1943+10_1943+12delinsTCA) c.1526+10_1526+12delinsTCA (n.1526+10_1526+12delinsTCA) n.3073+10_3073+12delinsTCA n.3068+10_3068+12delinsTCA | |
12 | g.132661516del | CA2580086169 | POLE | c.485+11del (n.485+11del) c.2718+11del c.2864+11del (n.2864+11del) c.*2366+11del (n.*2366+11del) c.2783+11del (n.2783+11del) c.*1911+11del (n.*1911+11del) c.2735+11del (n.2735+11del) c.1943+11del (n.1943+11del) c.1526+11del (n.1526+11del) n.3073+11del n.3068+11del | ClinVar gnomAD v4 |
12 | g.132661516G>A | CA2575358834 | POLE | c.485+11C>T (n.485+11C>T) c.2718+11C>T c.2864+11C>T (n.2864+11C>T) c.*2366+11C>T (n.*2366+11C>T) c.2783+11C>T (n.2783+11C>T) c.*1911+11C>T (n.*1911+11C>T) c.2735+11C>T (n.2735+11C>T) c.1943+11C>T (n.1943+11C>T) c.1526+11C>T (n.1526+11C>T) n.3073+11C>T n.3068+11C>T | ClinVar |
12 | g.132661516G= | CA2072995632 | POLE | c.485+11C= (n.485+11C=) c.2718+11C= c.2864+11C= (n.2864+11C=) c.*2366+11C= (n.*2366+11C=) c.2783+11C= (n.2783+11C=) c.*1911+11C= (n.*1911+11C=) c.2735+11C= (n.2735+11C=) c.1943+11C= (n.1943+11C=) c.1526+11C= (n.1526+11C=) n.3073+11C= n.3068+11C= | |
12 | g.132661516G>T | CA608270644 | POLE | c.485+11C>A (n.485+11C>A) c.2718+11C>A c.2864+11C>A (n.2864+11C>A) c.*2366+11C>A (n.*2366+11C>A) c.2783+11C>A (n.2783+11C>A) c.*1911+11C>A (n.*1911+11C>A) c.2735+11C>A (n.2735+11C>A) c.1943+11C>A (n.1943+11C>A) c.1526+11C>A (n.1526+11C>A) n.3073+11C>A n.3068+11C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.132661519_132661520del | CA658658193 | POLE | c.485+10_485+11del (n.485+10_485+11del) c.2718+10_2718+11del c.2864+10_2864+11del (n.2864+10_2864+11del) c.*2366+10_*2366+11del (n.*2366+10_*2366+11del) c.2783+10_2783+11del (n.2783+10_2783+11del) c.*1911+10_*1911+11del (n.*1911+10_*1911+11del) c.2735+10_2735+11del (n.2735+10_2735+11del) c.1943+10_1943+11del (n.1943+10_1943+11del) c.1526+10_1526+11del (n.1526+10_1526+11del) n.3073+10_3073+11del n.3068+10_3068+11del | ClinVar dbSNP gnomAD v4 |
12 | g.132661517A= | CA2072995633 | POLE | c.485+10T= (n.485+10T=) c.2718+10T= c.2864+10T= (n.2864+10T=) c.*2366+10T= (n.*2366+10T=) c.2783+10T= (n.2783+10T=) c.*1911+10T= (n.*1911+10T=) c.2735+10T= (n.2735+10T=) c.1943+10T= (n.1943+10T=) c.1526+10T= (n.1526+10T=) n.3073+10T= n.3068+10T= | |
12 | g.132661517A>C | CA2575358839 | POLE | c.485+10T>G (n.485+10T>G) c.2718+10T>G c.2864+10T>G (n.2864+10T>G) c.*2366+10T>G (n.*2366+10T>G) c.2783+10T>G (n.2783+10T>G) c.*1911+10T>G (n.*1911+10T>G) c.2735+10T>G (n.2735+10T>G) c.1943+10T>G (n.1943+10T>G) c.1526+10T>G (n.1526+10T>G) n.3073+10T>G n.3068+10T>G | |
12 | g.132661517A>G | CA608270645 | POLE | c.485+10T>C (n.485+10T>C) c.2718+10T>C c.2864+10T>C (n.2864+10T>C) c.*2366+10T>C (n.*2366+10T>C) c.2783+10T>C (n.2783+10T>C) c.*1911+10T>C (n.*1911+10T>C) c.2735+10T>C (n.2735+10T>C) c.1943+10T>C (n.1943+10T>C) c.1526+10T>C (n.1526+10T>C) n.3073+10T>C n.3068+10T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.132661517A>T | CA2727442875 | POLE | c.485+10T>A (n.485+10T>A) c.2718+10T>A c.2864+10T>A (n.2864+10T>A) c.*2366+10T>A (n.*2366+10T>A) c.2783+10T>A (n.2783+10T>A) c.*1911+10T>A (n.*1911+10T>A) c.2735+10T>A (n.2735+10T>A) c.1943+10T>A (n.1943+10T>A) c.1526+10T>A (n.1526+10T>A) n.3073+10T>A n.3068+10T>A | dbSNP |
12 | g.132661518G>A | CA6893437 | POLE | c.485+9C>T (n.485+9C>T) c.2718+9C>T c.2864+9C>T (n.2864+9C>T) c.*2366+9C>T (n.*2366+9C>T) c.2783+9C>T (n.2783+9C>T) c.*1911+9C>T (n.*1911+9C>T) c.2735+9C>T (n.2735+9C>T) c.1943+9C>T (n.1943+9C>T) c.1526+9C>T (n.1526+9C>T) n.3073+9C>T n.3068+9C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.132661518G>C | CA2072995635 | POLE | c.485+9C>G (n.485+9C>G) c.2718+9C>G c.2864+9C>G (n.2864+9C>G) c.*2366+9C>G (n.*2366+9C>G) c.2783+9C>G (n.2783+9C>G) c.*1911+9C>G (n.*1911+9C>G) c.2735+9C>G (n.2735+9C>G) c.1943+9C>G (n.1943+9C>G) c.1526+9C>G (n.1526+9C>G) n.3073+9C>G n.3068+9C>G | ClinVar dbSNP gnomAD v4 |
12 | g.132661518G= | CA2072995634 | POLE | c.485+9C= (n.485+9C=) c.2718+9C= c.2864+9C= (n.2864+9C=) c.*2366+9C= (n.*2366+9C=) c.2783+9C= (n.2783+9C=) c.*1911+9C= (n.*1911+9C=) c.2735+9C= (n.2735+9C=) c.1943+9C= (n.1943+9C=) c.1526+9C= (n.1526+9C=) n.3073+9C= n.3068+9C= | |
12 | g.132661518G>T | CA2727422311 | POLE | c.485+9C>A (n.485+9C>A) c.2718+9C>A c.2864+9C>A (n.2864+9C>A) c.*2366+9C>A (n.*2366+9C>A) c.2783+9C>A (n.2783+9C>A) c.*1911+9C>A (n.*1911+9C>A) c.2735+9C>A (n.2735+9C>A) c.1943+9C>A (n.1943+9C>A) c.1526+9C>A (n.1526+9C>A) n.3073+9C>A n.3068+9C>A | dbSNP |
12 | g.132661519A= | CA2072995636 | POLE | c.485+8T= (n.485+8T=) c.2718+8T= c.2864+8T= (n.2864+8T=) c.*2366+8T= (n.*2366+8T=) c.2783+8T= (n.2783+8T=) c.*1911+8T= (n.*1911+8T=) c.2735+8T= (n.2735+8T=) c.1943+8T= (n.1943+8T=) c.1526+8T= (n.1526+8T=) n.3073+8T= n.3068+8T= | |
12 | g.132661519A>G | CA10583007 | POLE | c.485+8T>C (n.485+8T>C) c.2718+8T>C c.2864+8T>C (n.2864+8T>C) c.*2366+8T>C (n.*2366+8T>C) c.2783+8T>C (n.2783+8T>C) c.*1911+8T>C (n.*1911+8T>C) c.2735+8T>C (n.2735+8T>C) c.1943+8T>C (n.1943+8T>C) c.1526+8T>C (n.1526+8T>C) n.3073+8T>C n.3068+8T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.132661520G>A | CA2573148204 | POLE | c.485+7C>T (n.485+7C>T) c.2718+7C>T c.2864+7C>T (n.2864+7C>T) c.*2366+7C>T (n.*2366+7C>T) c.2783+7C>T (n.2783+7C>T) c.*1911+7C>T (n.*1911+7C>T) c.2735+7C>T (n.2735+7C>T) c.1943+7C>T (n.1943+7C>T) c.1526+7C>T (n.1526+7C>T) n.3073+7C>T n.3068+7C>T | ClinVar dbSNP |
12 | g.132661520G>C | CA2727556806 | POLE | c.485+7C>G (n.485+7C>G) c.2718+7C>G c.2864+7C>G (n.2864+7C>G) c.*2366+7C>G (n.*2366+7C>G) c.2783+7C>G (n.2783+7C>G) c.*1911+7C>G (n.*1911+7C>G) c.2735+7C>G (n.2735+7C>G) c.1943+7C>G (n.1943+7C>G) c.1526+7C>G (n.1526+7C>G) n.3073+7C>G n.3068+7C>G | dbSNP |
12 | g.132661521T>C | CA2573148205 | POLE | c.485+6A>G (n.485+6A>G) c.2718+6A>G c.2864+6A>G (n.2864+6A>G) c.*2366+6A>G (n.*2366+6A>G) c.2783+6A>G (n.2783+6A>G) c.*1911+6A>G (n.*1911+6A>G) c.2735+6A>G (n.2735+6A>G) c.1943+6A>G (n.1943+6A>G) c.1526+6A>G (n.1526+6A>G) n.3073+6A>G n.3068+6A>G | ClinVar dbSNP |
12 | g.132661522C>A | CA2622056687 | POLE | c.485+5G>T (n.485+5G>T) c.2718+5G>T c.2864+5G>T (n.2864+5G>T) c.*2366+5G>T (n.*2366+5G>T) c.2783+5G>T (n.2783+5G>T) c.*1911+5G>T (n.*1911+5G>T) c.2735+5G>T (n.2735+5G>T) c.1943+5G>T (n.1943+5G>T) c.1526+5G>T (n.1526+5G>T) n.3073+5G>T n.3068+5G>T | gnomAD v4 |
12 | g.132661522C>T | CA2622056688 | POLE | c.485+5G>A (n.485+5G>A) c.2718+5G>A c.2864+5G>A (n.2864+5G>A) c.*2366+5G>A (n.*2366+5G>A) c.2783+5G>A (n.2783+5G>A) c.*1911+5G>A (n.*1911+5G>A) c.2735+5G>A (n.2735+5G>A) c.1943+5G>A (n.1943+5G>A) c.1526+5G>A (n.1526+5G>A) n.3073+5G>A n.3068+5G>A | gnomAD v4 |
12 | g.132661523C= | CA2072995637 | POLE | c.485+4G= (n.485+4G=) c.2718+4G= c.2864+4G= (n.2864+4G=) c.*2366+4G= (n.*2366+4G=) c.2783+4G= (n.2783+4G=) c.*1911+4G= (n.*1911+4G=) c.2735+4G= (n.2735+4G=) c.1943+4G= (n.1943+4G=) c.1526+4G= (n.1526+4G=) n.3073+4G= n.3068+4G= | |
12 | g.132661523C>T | CA1139662978 | POLE | c.485+4G>A (n.485+4G>A) c.2718+4G>A c.2864+4G>A (n.2864+4G>A) c.*2366+4G>A (n.*2366+4G>A) c.2783+4G>A (n.2783+4G>A) c.*1911+4G>A (n.*1911+4G>A) c.2735+4G>A (n.2735+4G>A) c.1943+4G>A (n.1943+4G>A) c.1526+4G>A (n.1526+4G>A) n.3073+4G>A n.3068+4G>A | ClinVar dbSNP |
12 | g.132661524C= | CA2072995638 | POLE | c.485+3G= (n.485+3G=) c.2718+3G= c.2864+3G= (n.2864+3G=) c.*2366+3G= (n.*2366+3G=) c.2783+3G= (n.2783+3G=) c.*1911+3G= (n.*1911+3G=) c.2735+3G= (n.2735+3G=) c.1943+3G= (n.1943+3G=) c.1526+3G= (n.1526+3G=) n.3073+3G= n.3068+3G= | |
12 | g.132661524C>T | CA16613682 | POLE | c.485+3G>A (n.485+3G>A) c.2718+3G>A c.2864+3G>A (n.2864+3G>A) c.*2366+3G>A (n.*2366+3G>A) c.2783+3G>A (n.2783+3G>A) c.*1911+3G>A (n.*1911+3G>A) c.2735+3G>A (n.2735+3G>A) c.1943+3G>A (n.1943+3G>A) c.1526+3G>A (n.1526+3G>A) n.3073+3G>A n.3068+3G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.132661525A>C | CA387393513 | POLE | c.485+2T>G (n.485+2T>G) c.2718+2T>G c.2864+2T>G (n.2864+2T>G) c.*2366+2T>G (n.*2366+2T>G) c.2783+2T>G (n.2783+2T>G) c.*1911+2T>G (n.*1911+2T>G) c.2735+2T>G (n.2735+2T>G) c.1943+2T>G (n.1943+2T>G) c.1526+2T>G (n.1526+2T>G) n.3073+2T>G n.3068+2T>G | |
12 | g.132661525A>G | CA387393514 | POLE | c.485+2T>C (n.485+2T>C) c.2718+2T>C c.2864+2T>C (n.2864+2T>C) c.*2366+2T>C (n.*2366+2T>C) c.2783+2T>C (n.2783+2T>C) c.*1911+2T>C (n.*1911+2T>C) c.2735+2T>C (n.2735+2T>C) c.1943+2T>C (n.1943+2T>C) c.1526+2T>C (n.1526+2T>C) n.3073+2T>C n.3068+2T>C | |
12 | g.132661525A>T | CA387393515 | POLE | c.485+2T>A (n.485+2T>A) c.2718+2T>A c.2864+2T>A (n.2864+2T>A) c.*2366+2T>A (n.*2366+2T>A) c.2783+2T>A (n.2783+2T>A) c.*1911+2T>A (n.*1911+2T>A) c.2735+2T>A (n.2735+2T>A) c.1943+2T>A (n.1943+2T>A) c.1526+2T>A (n.1526+2T>A) n.3073+2T>A n.3068+2T>A | dbSNP gnomAD v4 |
12 | g.132661526C>A | CA387393516 | POLE | c.485+1G>T (n.485+1G>T) c.2718+1G>T c.2864+1G>T (n.2864+1G>T) c.*2366+1G>T (n.*2366+1G>T) c.2783+1G>T (n.2783+1G>T) c.*1911+1G>T (n.*1911+1G>T) c.2735+1G>T (n.2735+1G>T) c.1943+1G>T (n.1943+1G>T) c.1526+1G>T (n.1526+1G>T) n.3073+1G>T n.3068+1G>T | ClinVar dbSNP |
12 | g.132661526C>G | CA387393517 | POLE | c.485+1G>C (n.485+1G>C) c.2718+1G>C c.2864+1G>C (n.2864+1G>C) c.*2366+1G>C (n.*2366+1G>C) c.2783+1G>C (n.2783+1G>C) c.*1911+1G>C (n.*1911+1G>C) c.2735+1G>C (n.2735+1G>C) c.1943+1G>C (n.1943+1G>C) c.1526+1G>C (n.1526+1G>C) n.3073+1G>C n.3068+1G>C | dbSNP gnomAD v4 |
12 | g.132661526C>T | CA387393518 | POLE | c.485+1G>A (n.485+1G>A) c.2718+1G>A c.2864+1G>A (n.2864+1G>A) c.*2366+1G>A (n.*2366+1G>A) c.2783+1G>A (n.2783+1G>A) c.*1911+1G>A (n.*1911+1G>A) c.2735+1G>A (n.2735+1G>A) c.1943+1G>A (n.1943+1G>A) c.1526+1G>A (n.1526+1G>A) n.3073+1G>A n.3068+1G>A | ClinVar dbSNP |
12 | g.132661527C>A | CA387393522 | POLE | c.485G>T (p.Arg162Met) c.2718G>T c.2864G>T (p.Arg955Met) c.*2366G>T (n.*2366G>T) c.2783G>T (p.Arg928Met) c.*1911G>T (n.*1911G>T) c.2735G>T (p.Arg912Met) c.1943G>T (p.Arg648Met) c.1526G>T (p.Arg509Met) n.3073G>T n.3068G>T | |
12 | g.132661527C>G | CA387393519 | POLE | c.485G>C (p.Arg162Thr) c.2718G>C c.2864G>C (p.Arg955Thr) c.*2366G>C (n.*2366G>C) c.2783G>C (p.Arg928Thr) c.*1911G>C (n.*1911G>C) c.2735G>C (p.Arg912Thr) c.1943G>C (p.Arg648Thr) c.1526G>C (p.Arg509Thr) n.3073G>C n.3068G>C | ClinVar gnomAD v4 |
12 | g.132661527C>T | CA387393520 | POLE | c.485G>A (p.Arg162Lys) c.2718G>A c.2864G>A (p.Arg955Lys) c.*2366G>A (n.*2366G>A) c.2783G>A (p.Arg928Lys) c.*1911G>A (n.*1911G>A) c.2735G>A (p.Arg912Lys) c.1943G>A (p.Arg648Lys) c.1526G>A (p.Arg509Lys) n.3073G>A n.3068G>A | |
12 | g.132661528T>A | CA387393523 | POLE | c.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 |
12 | g.132661528T>C | CA387393524 | POLE | c.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 |
12 | g.132661528T>G | CA482735492 | POLE | c.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 | |
12 | g.132661528T= | CA2072995639 | POLE | c.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= | |
12 | g.132661533_132661535del | CA2622056706 | POLE | c.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 |
12 | g.132661529C>A | CA387393525 | POLE | c.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 |
12 | g.132661529C>G | CA387393526 | POLE | c.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 |
12 | g.132661529C>T | CA482735493 | POLE | c.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 |
12 | g.132661530T>A | CA387393527 | POLE | c.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 | |
12 | g.132661530T>C | CA387393529 | POLE | c.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 |
12 | g.132661530T>G | CA387393531 | POLE | c.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 | |
12 | g.132661531T>A | CA387393535 | POLE | c.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 | |
12 | g.132661531T>C | CA387393537 | POLE | c.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 | |
12 | g.132661531T>G | CA387393538 | POLE | c.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 | |
12 | g.132661532C>A | CA387393540 | POLE | c.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 |
12 | g.132661532C>G | CA387393541 | POLE | c.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 |
12 | g.132661532C>T | CA482735496 | POLE | c.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 |
12 | g.132661533T>A | CA387393547 | POLE | c.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 | |
12 | g.132661533T>C | CA387393546 | POLE | c.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 |
12 | g.132661533T>G | CA387393545 | POLE | c.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 |
12 | g.132661534T>A | CA387393549 | POLE | c.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 |
12 | g.132661534T>C | CA387393551 | POLE | c.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 |
12 | g.132661534T>G | CA387393553 | POLE | c.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 | |
12 | g.132661535C>A | CA387393554 | POLE | c.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 |
12 | g.132661535C= | CA2072995640 | POLE | c.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= | |
12 | g.132661535C>G | CA387393555 | POLE | c.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 |
12 | g.132661535C>T | CA482735500 | POLE | c.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 |
12 | g.132661536A= | CA2072995641 | POLE | c.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= | |
12 | g.132661536A>C | CA387393556 | POLE | c.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 | |
12 | g.132661536A>G | CA387393557 | POLE | c.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 | |
12 | g.132661536A>T | CA6893438 | POLE | c.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 |
12 | g.132661537A>C | CA387393558 | POLE | c.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 | |
12 | g.132661537A>G | CA482735504 | POLE | c.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 | |
12 | g.132661537A>T | CA387393559 | POLE | c.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 |
12 | g.132661538T>A | CA387393560 | POLE | c.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 | |
12 | g.132661538T>C | CA6893439 | POLE | c.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 |
12 | g.132661538T>G | CA387393562 | POLE | c.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 | |
12 | g.132661538T= | CA2072995642 | POLE | c.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= | |
12 | g.132661539T>A | CA387393569 | POLE | c.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 | |
12 | g.132661539T>C | CA387393567 | POLE | c.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 | |
12 | g.132661539T>G | CA387393565 | POLE | c.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 |
12 | g.132661539T= | CA2072995643 | POLE | c.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= | |
12 | g.132661540T>A | CA387393570 | POLE | c.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 |
12 | g.132661540T>C | CA387393572 | POLE | c.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 | |
12 | g.132661540T>G | CA387393573 | POLE | c.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 | |
12 | g.132661541C>A | CA387393575 | POLE | c.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 |
12 | g.132661541C>G | CA387393577 | POLE | c.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 |
12 | g.132661541C>T | CA482735514 | POLE | c.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 |
12 | g.132661542T>A | CA387393578 | POLE | c.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 | |
12 | g.132661542T>C | CA387393580 | POLE | c.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 |
12 | g.132661542T>G | CA387393581 | POLE | c.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 | |
12 | g.132661543T>A | CA387393582 | POLE | c.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 | |
12 | g.132661543T>C | CA387393583 | POLE | c.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 | |
12 | g.132661543T>G | CA387393585 | POLE | c.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 | |
12 | g.132661544G>A | CA482735518 | POLE | c.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 |
12 | g.132661544G>C | CA482735519 | POLE | c.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 |
12 | g.132661544G= | CA2072995644 | POLE | c.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= | |
12 | g.132661544G>T | CA482735521 | POLE | c.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 |
12 | g.132661545C>A | CA387393587 | POLE | c.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 |
12 | g.132661545C= | CA2072995645 | POLE | c.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= | |
12 | g.132661545C>G | CA387393588 | POLE | c.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 |
12 | g.132661545C>T | CA387393590 | POLE | c.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 |
12 | g.132661546C>A | CA387393593 | POLE | c.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 |
12 | g.132661546C= | CA2072995646 | POLE | c.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= | |
12 | g.132661546C>G | CA387393595 | POLE | c.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 | |
12 | g.132661546C>T | CA387393592 | POLE | c.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 |
12 | g.132661547T>A | CA387393596 | POLE | c.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 | |
12 | g.132661547T>C | CA482735526 | POLE | c.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 |
12 | g.132661547T>G | CA387393597 | POLE | c.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 |
12 | g.132661547T= | CA2072995647 | POLE | c.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= | |
12 | g.132661548T>A | CA387393599 | POLE | c.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 | |
12 | g.132661548T>C | CA387393601 | POLE | c.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 | |
12 | g.132661548T>G | CA387393603 | POLE | c.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 | |
12 | g.132661549C>A | CA387393604 | POLE | c.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 |
12 | g.132661549C>G | CA387393605 | POLE | c.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 |
12 | g.132661549C>T | CA387393607 | POLE | c.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 |
12 | g.132661550T>A | CA387393609 | POLE | c.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 | |
12 | g.132661550T>C | CA482735528 | POLE | c.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 |
12 | g.132661550T>G | CA387393610 | POLE | c.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 | |
12 | g.132661551T>A | CA387393612 | POLE | c.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 | |
12 | g.132661551T>C | CA387393614 | POLE | c.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 | |
12 | g.132661551T>G | CA387393615 | POLE | c.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 | |
12 | g.132661552C>A | CA387393621 | POLE | c.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 | |
12 | g.132661552C>G | CA387393617 | POLE | c.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 | |
12 | g.132661552C>T | CA387393619 | POLE | c.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 | |
12 | g.132661553del | CA2739277369 | POLE | c.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 |
12 | g.132661553C>A | CA387393622 | POLE | c.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 |
12 | g.132661553C>G | CA387393623 | POLE | c.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 |
12 | g.132661553C>T | CA482735536 | POLE | c.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 |
12 | g.132661554T>A | CA387393625 | POLE | c.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 | |
12 | g.132661554T>C | CA387393627 | POLE | c.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 |
12 | g.132661554T>G | CA387393628 | POLE | c.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 | |
12 | g.132661555T>A | CA387393630 | POLE | c.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 | |
12 | g.132661555T>C | CA387393632 | POLE | c.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 |
12 | g.132661555T>G | CA387393634 | POLE | c.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 | |
12 | g.132661556G>A | CA482735540 | POLE | c.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 |
12 | g.132661556G>C | CA482735541 | POLE | c.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 | |
12 | g.132661556G>T | CA482735539 | POLE | c.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 |
12 | g.132661557del | CA2727557082 | POLE | c.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 |
12 | g.132661557G>A | CA387393635 | POLE | c.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 |
12 | g.132661557G>C | CA387393636 | POLE | c.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 | |
12 | g.132661557G>T | CA387393637 | POLE | c.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 | |
12 | g.132661558A= | CA2072995648 | POLE | c.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= | |
12 | g.132661558A>C | CA387393644 | POLE | c.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 |
12 | g.132661558A>G | CA387393642 | POLE | c.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 |
12 | g.132661558A>T | CA387393640 | POLE | c.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 |
12 | g.132661559G>A | CA482735544 | POLE | c.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 |
12 | g.132661559G>C | CA482735543 | POLE | c.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 | |
12 | g.132661559G= | CA2072995649 | POLE | c.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= | |
12 | g.132661559G>T | CA482735542 | POLE | c.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 |
12 | g.132661560G>A | CA387393646 | POLE | c.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 |
12 | g.132661560G>C | CA387393648 | POLE | c.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 |
12 | g.132661560G>T | CA387393647 | POLE | c.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 |
12 | g.132661561C>A | CA387393650 | POLE | c.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 |
12 | g.132661561C= | CA2072995650 | POLE | c.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= | |
12 | g.132661561C>G | CA387393654 | POLE | c.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 |
12 | g.132661561C>T | CA387393652 | POLE | c.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 |
12 | g.132661562T>A | CA482735547 | POLE | c.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 | |
12 | g.132661562T>C | CA482735552 | POLE | c.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 | |
12 | g.132661562T>G | CA482735549 | POLE | c.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 |
12 | g.132661563G>A | CA387393655 | POLE | c.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 |
12 | g.132661563G>C | CA387393658 | POLE | c.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 |
12 | g.132661563G>T | CA387393657 | POLE | c.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 |
12 | g.132661564G>A | CA387393660 | POLE | c.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 | |
12 | g.132661564G>C | CA387393663 | POLE | c.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 | |
12 | g.132661564G>T | CA387393662 | POLE | c.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 |
12 | g.132661565A>C | CA482735556 | POLE | c.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 |
12 | g.132661565A>G | CA482735557 | POLE | c.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 | |
12 | g.132661565A>T | CA482735558 | POLE | c.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 |
12 | g.132661566A= | CA2072995651 | POLE | c.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= | |
12 | g.132661566A>C | CA387393665 | POLE | c.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 | |
12 | g.132661566A>G | CA387393667 | POLE | c.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 |
12 | g.132661566A>T | CA387393668 | POLE | c.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 | |
12 | g.132661567G>A | CA387393669 | POLE | c.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 |
12 | g.132661567G>C | CA387393670 | POLE | c.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 |
12 | g.132661567G= | CA2072995652 | POLE | c.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= | |
12 | g.132661567G>T | CA387393672 | POLE | c.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 | |
12 | g.132661568A>C | CA387393674 | POLE | c.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 | |
12 | g.132661568A>G | CA482735561 | POLE | c.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 | |
12 | g.132661568A>T | CA482735562 | POLE | c.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 |
12 | g.132661569A>C | CA387393676 | POLE | c.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 | |
12 | g.132661569A>G | CA387393677 | POLE | c.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 | |
12 | g.132661569A>T | CA387393679 | POLE | c.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 | |
12 | g.132661570T>A | CA387393683 | POLE | c.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 |
12 | g.132661570T>C | CA16613904 | POLE | c.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 |
12 | g.132661570T>G | CA387393681 | POLE | c.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 | |
12 | g.132661570T= | CA2072995653 | POLE | c.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= | |
12 | g.132661571C>A | CA387393685 | POLE | c.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 |
12 | g.132661571C= | CA2072995654 | POLE | c.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= | |
12 | g.132661571C>G | CA387393687 | POLE | c.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 |
12 | g.132661571C>T | CA6893440 | POLE | c.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 |
12 | g.132661572A>C | CA387393690 | POLE | c.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 | |
12 | g.132661572A>G | CA387393691 | POLE | c.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 |
12 | g.132661572A>T | CA387393693 | POLE | c.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 |
12 | g.132661573T>A | CA387393695 | POLE | c.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 | |
12 | g.132661573T>C | CA6893441 | POLE | c.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 |
12 | g.132661573T>G | CA387393696 | POLE | c.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 | |
12 | g.132661573T= | CA2072995655 | POLE | c.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= | |
12 | g.132661574G>A | CA482735569 | POLE | c.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 |
12 | g.132661574G>C | CA482735570 | POLE | c.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 |
12 | g.132661574G>T | CA482735571 | POLE | c.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 | |
12 | g.132661575G>A | CA6893442 | POLE | c.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 |
12 | g.132661575G>C | CA387393699 | POLE | c.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 |
12 | g.132661575G= | CA2072995656 | POLE | c.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= | |
12 | g.132661575G>T | CA387393700 | POLE | c.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 |
12 | g.132661576C>A | CA387393703 | POLE | c.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 |
12 | g.132661576C>G | CA387393702 | POLE | c.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 |
12 | g.132661576C>T | CA387393701 | POLE | c.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 |
12 | g.132661576_132661577delinsCA | CA2072995657 | POLE | c.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 | |
12 | g.132661577A>C | CA482735575 | POLE | c.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 | |
12 | g.132661577A>G | CA482735578 | POLE | c.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 | |
12 | g.132661577A>T | CA482735577 | POLE | c.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 | |
12 | g.132661578del | CA608270646 | POLE | c.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 |
12 | g.132661578A>C | CA387393706 | POLE | c.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 | |
12 | g.132661578A>G | CA387393704 | POLE | c.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 |
12 | g.132661578A>T | CA387393705 | POLE | c.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 |
12 | g.132661581_132661584del | CA2622056749 | POLE | c.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 |
12 | g.132661578_132661585del | CA2727557439 | POLE | c.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 |
12 | g.132661579G>A | CA6893443 | POLE | c.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 |
12 | g.132661579G>C | CA387393708 | POLE | c.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 |
12 | g.132661579G= | CA2072995658 | POLE | c.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= | |
12 | g.132661579G>T | CA387393710 | POLE | c.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 | |
12 | g.132661580G>A | CA482735580 | POLE | c.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 |
12 | g.132661580G>C | CA387393711 | POLE | c.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 |
12 | g.132661580G= | CA2072995659 | POLE | c.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= | |
12 | g.132661580G>T | CA387393712 | POLE | c.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 |
12 | g.132661580_132661582delinsCT | CA2739277370 | POLE | c.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 |
12 | g.132661581T>A | CA387393713 | POLE | c.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 |
12 | g.132661581T>C | CA246317376 | POLE | c.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 |
12 | g.132661581T>G | CA387393715 | POLE | c.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 |
12 | g.132661581T= | CA2072995660 | POLE | c.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= | |
12 | g.132661581dup | CA2573148207 | POLE | c.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 |
12 | g.132661582del | CA2499221528 | POLE | c.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 |
12 | g.132661582A>C | CA387393718 | POLE | c.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 | |
12 | g.132661582A>G | CA387393719 | POLE | c.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 |
12 | g.132661582A>T | CA387393720 | POLE | c.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 |
12 | g.132661583G>A | CA6893444 | POLE | c.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 |
12 | g.132661583G>C | CA482735583 | POLE | c.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 |
12 | g.132661583G= | CA2072995661 | POLE | c.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= | |
12 | g.132661583G>T | CA482735584 | POLE | c.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 |
12 | g.132661584G>A | CA387393723 | POLE | c.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 |
12 | g.132661584G>C | CA387393725 | POLE | c.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 |
12 | g.132661584G= | CA2072995662 | POLE | c.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= | |
12 | g.132661584G>T | CA387393724 | POLE | c.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 |
12 | g.132661585G>A | CA387393726 | POLE | c.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 |
12 | g.132661585G>C | CA387393728 | POLE | c.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 | |
12 | g.132661585G>T | CA387393730 | POLE | c.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 | |
12 | g.132661586C>A | CA482735586 | POLE | c.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 |
12 | g.132661586C= | CA2072995663 | POLE | c.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= | |
12 | g.132661586C>G | CA482735587 | POLE | c.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 |
12 | g.132661586C>T | CA482735588 | POLE | c.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 |
12 | g.132661587C>A | CA387393731 | POLE | c.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 |
12 | g.132661587C>G | CA387393732 | POLE | c.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 |
12 | g.132661587C>T | CA387393734 | POLE | c.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 |
12 | g.132661588C>A | CA387393735 | POLE | c.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 | |
12 | g.132661588C>G | CA387393737 | POLE | c.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 | |
12 | g.132661588C>T | CA387393738 | POLE | c.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 |
12 | g.132661589A= | CA2072995664 | POLE | c.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= | |
12 | g.132661589A>C | CA387393740 | POLE | c.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 | |
12 | g.132661589A>G | CA482735591 | POLE | c.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 |
12 | g.132661589A>T | CA387393742 | POLE | c.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 |
12 | g.132661590T>A | CA387393746 | POLE | c.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 |
12 | g.132661590T>C | CA387393748 | POLE | c.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 |
12 | g.132661590T>G | CA387393744 | POLE | c.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 | |
12 | g.132661590T= | CA2072995665 | POLE | c.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= | |
12 | g.132661591C>A | CA387393750 | POLE | c.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 |
12 | g.132661591C>G | CA387393752 | POLE | c.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 |
12 | g.132661591C>T | CA387393751 | POLE | c.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 |
12 | g.132661592A>C | CA482735595 | POLE | c.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 | |
12 | g.132661592A>G | CA482735596 | POLE | c.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 | |
12 | g.132661592A>T | CA482735597 | POLE | c.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 |
12 | g.132661593A>C | CA387393754 | POLE | c.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 | |
12 | g.132661593A>G | CA387393755 | POLE | c.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 |
12 | g.132661593A>T | CA387393757 | POLE | c.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 |
12 | g.132661594C>A | CA387393759 | POLE | c.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 | |
12 | g.132661594C= | CA2072995666 | POLE | c.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= | |
12 | g.132661594C>G | CA387393760 | POLE | c.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 |
12 | g.132661594C>T | CA387393762 | POLE | c.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 |
12 | g.132661595C>A | CA387393764 | POLE | c.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 |
12 | g.132661595C>G | CA387393765 | POLE | c.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 |
12 | g.132661595C>T | CA482735598 | POLE | c.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 |
12 | g.132661596T>A | CA387393767 | POLE | c.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 |
12 | g.132661596T>C | CA387393768 | POLE | c.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 |
12 | g.132661596T>G | CA387393771 | POLE | c.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 | |
12 | g.132661597C>A | CA387393775 | POLE | c.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 | |
12 | g.132661597C>G | CA387393773 | POLE | c.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 | |
12 | g.132661597C>T | CA387393774 | POLE | c.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 |
12 | g.132661598A>C | CA387393776 | POLE | c.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 |
12 | g.132661598A>G | CA482735600 | POLE | c.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 |
12 | g.132661598A>T | CA387393777 | POLE | c.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 | |
12 | g.132661603dup | CA2727557676 | POLE | c.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 |
12 | g.132661599A= | CA2072995667 | POLE | c.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= | |
12 | g.132661599A>C | CA387393778 | POLE | c.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 | |
12 | g.132661599A>G | CA6893445 | POLE | c.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 |
12 | g.132661599A>T | CA387393781 | POLE | c.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 |
12 | g.132661600A>C | CA387393783 | POLE | c.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 | |
12 | g.132661600A>G | CA387393784 | POLE | c.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 |
12 | g.132661600A>T | CA387393786 | POLE | c.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 | |
12 | g.132661601A>C | CA387393787 | POLE | c.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 | |
12 | g.132661601A>G | CA482735603 | POLE | c.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 |
12 | g.132661601A>T | CA387393788 | POLE | c.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 | |
12 | g.132661602A= | CA2072995668 | POLE | c.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= | |
12 | g.132661602A>C | CA387393793 | POLE | c.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 | |
12 | g.132661602A>G | CA387393791 | POLE | c.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 |
12 | g.132661602A>T | CA387393789 | POLE | c.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 |
12 | g.132661603A>C | CA387393794 | POLE | c.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 | |
12 | g.132661603A>G | CA387393796 | POLE | c.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 |
12 | g.132661603A>T | CA387393798 | POLE | c.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 | |
12 | g.132661604G>A | CA482735608 | POLE | c.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 |
12 | g.132661604G>C | CA387393800 | POLE | c.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 |
12 | g.132661604G>T | CA482735609 | POLE | c.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 | |
12 | g.132661605A>C | CA387393801 | POLE | c.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 | |
12 | g.132661605A>G | CA387393803 | POLE | c.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 | |
12 | g.132661605A>T | CA387393805 | POLE | c.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 |
12 | g.132661606T>A | CA387393806 | POLE | c.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 |
12 | g.132661606T>C | CA246317390 | POLE | c.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 |
12 | g.132661606T>G | CA387393808 | POLE | c.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 |
12 | g.132661606T= | CA2072995669 | POLE | c.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= | |
12 | g.132661607G>A | CA482735612 | POLE | c.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 |
12 | g.132661607G>C | CA387393810 | POLE | c.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 |
12 | g.132661607G= | CA2072995670 | POLE | c.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= | |
12 | g.132661607G>T | CA246317393 | POLE | c.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 |
12 | g.132661608C>A | CA387393815 | POLE | c.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 | |
12 | g.132661608C= | CA2072995671 | POLE | c.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= | |
12 | g.132661608C>G | CA387393812 | POLE | c.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 |
12 | g.132661608C>T | CA387393814 | POLE | c.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 | ClinVar dbSNP |
12 | g.132661609T>A | CA387393817 | POLE | c.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 | |
12 | g.132661609T>C | CA387393818 | POLE | c.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 |
12 | g.132661609T>G | CA387393819 | POLE | c.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 | |
12 | g.132661609T= | CA2072995672 | POLE | c.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= | |
12 | g.132661610G>A | CA6893446 | POLE | c.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 |
12 | g.132661610G>C | CA387393821 | POLE | c.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 |
12 | g.132661610G= | CA2072995673 | POLE | c.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= | |
12 | g.132661610G>T | CA387393823 | POLE | c.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 |
12 | g.132661611T>A | CA387393825 | POLE | c.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 |
12 | g.132661611T>C | CA387393826 | POLE | c.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 | |
12 | g.132661611T>G | CA387393828 | POLE | c.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 |
12 | g.132661612T>A | CA387393830 | POLE | c.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 |
12 | g.132661612T>C | CA387393831 | POLE | c.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 | |
12 | g.132661612T>G | CA387393833 | POLE | c.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 | |
12 | g.132661613C>A | CA387393836 | POLE | c.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 |
12 | g.132661613C>G | CA387393834 | POLE | c.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 | ClinVar dbSNP |
12 | g.132661613C>T | CA482735618 | POLE | c.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 |