| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.108210246A= | CA2117794559 | LIG4 | c.822T= (p.Thr274=) c.1023T= (p.Thr341=) c.1059T= (p.Thr353=) c.1035T= (p.Thr345=) | |
| 13 | g.108210246A>C | CA484975425 | LIG4 | c.822T>G (p.Thr274=) c.1023T>G (p.Thr341=) c.1059T>G (p.Thr353=) c.1035T>G (p.Thr345=) | |
| 13 | g.108210246A>G | CA484975426 | LIG4 | c.822T>C (p.Thr274=) c.1023T>C (p.Thr341=) c.1059T>C (p.Thr353=) c.1035T>C (p.Thr345=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.108210246A>T | CA484975427 | LIG4 | c.822T>A (p.Thr274=) c.1023T>A (p.Thr341=) c.1059T>A (p.Thr353=) c.1035T>A (p.Thr345=) | |
| 13 | g.108210247G>A | CA388618712 | LIG4 | c.821C>T (p.Thr274Ile) c.1022C>T (p.Thr341Ile) c.1058C>T (p.Thr353Ile) c.1034C>T (p.Thr345Ile) | |
| 13 | g.108210247G>C | CA388618713 | LIG4 | c.821C>G (p.Thr274Ser) c.1022C>G (p.Thr341Ser) c.1058C>G (p.Thr353Ser) c.1034C>G (p.Thr345Ser) | gnomAD v4 |
| 13 | g.108210247G>T | CA388618714 | LIG4 | c.821C>A (p.Thr274Asn) c.1022C>A (p.Thr341Asn) c.1058C>A (p.Thr353Asn) c.1034C>A (p.Thr345Asn) | |
| 13 | g.108210248T>A | CA388618717 | LIG4 | c.820A>T (p.Thr274Ser) c.1021A>T (p.Thr341Ser) c.1057A>T (p.Thr353Ser) c.1033A>T (p.Thr345Ser) | |
| 13 | g.108210248T>C | CA388618718 | LIG4 | c.820A>G (p.Thr274Ala) c.1021A>G (p.Thr341Ala) c.1057A>G (p.Thr353Ala) c.1033A>G (p.Thr345Ala) | |
| 13 | g.108210248T>G | CA388618720 | LIG4 | c.820A>C (p.Thr274Pro) c.1021A>C (p.Thr341Pro) c.1057A>C (p.Thr353Pro) c.1033A>C (p.Thr345Pro) | |
| 13 | g.108210249T>A | CA256182047 | LIG4 | c.819A>T (p.Gln273His) c.1020A>T (p.Gln340His) c.1056A>T (p.Gln352His) c.1032A>T (p.Gln344His) | dbSNP |
| 13 | g.108210249T>C | CA7043762 | LIG4 | c.819A>G (p.Gln273=) c.1020A>G (p.Gln340=) c.1056A>G (p.Gln352=) c.1032A>G (p.Gln344=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108210249T>G | CA388618724 | LIG4 | c.819A>C (p.Gln273His) c.1020A>C (p.Gln340His) c.1056A>C (p.Gln352His) c.1032A>C (p.Gln344His) | |
| 13 | g.108210249T= | CA2117794560 | LIG4 | c.819A= (p.Gln273=) c.1020A= (p.Gln340=) c.1056A= (p.Gln352=) c.1032A= (p.Gln344=) | |
| 13 | g.108210250T>A | CA388618729 | LIG4 | c.818A>T (p.Gln273Leu) c.1019A>T (p.Gln340Leu) c.1055A>T (p.Gln352Leu) c.1031A>T (p.Gln344Leu) | |
| 13 | g.108210250T>C | CA388618731 | LIG4 | c.818A>G (p.Gln273Arg) c.1019A>G (p.Gln340Arg) c.1055A>G (p.Gln352Arg) c.1031A>G (p.Gln344Arg) | |
| 13 | g.108210250T>G | CA388618735 | LIG4 | c.818A>C (p.Gln273Pro) c.1019A>C (p.Gln340Pro) c.1055A>C (p.Gln352Pro) c.1031A>C (p.Gln344Pro) | dbSNP |
| 13 | g.108210250T= | CA2117794561 | LIG4 | c.818A= (p.Gln273=) c.1019A= (p.Gln340=) c.1055A= (p.Gln352=) c.1031A= (p.Gln344=) | |
| 13 | g.108210251G>A | CA388618738 | LIG4 | c.817C>T (p.Gln273Ter) c.1018C>T (p.Gln340Ter) c.1054C>T (p.Gln352Ter) c.1030C>T (p.Gln344Ter) | |
| 13 | g.108210251G>C | CA388618741 | LIG4 | c.817C>G (p.Gln273Glu) c.1018C>G (p.Gln340Glu) c.1054C>G (p.Gln352Glu) c.1030C>G (p.Gln344Glu) | |
| 13 | g.108210251G>T | CA388618750 | LIG4 | c.817C>A (p.Gln273Lys) c.1018C>A (p.Gln340Lys) c.1054C>A (p.Gln352Lys) c.1030C>A (p.Gln344Lys) | |
| 13 | g.108210252T>A | CA484975445 | LIG4 | c.816A>T (p.Thr272=) c.1017A>T (p.Thr339=) c.1053A>T (p.Thr351=) c.1029A>T (p.Thr343=) | |
| 13 | g.108210252T>C | CA484975447 | LIG4 | c.816A>G (p.Thr272=) c.1017A>G (p.Thr339=) c.1053A>G (p.Thr351=) c.1029A>G (p.Thr343=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108210252T>G | CA484975450 | LIG4 | c.816A>C (p.Thr272=) c.1017A>C (p.Thr339=) c.1053A>C (p.Thr351=) c.1029A>C (p.Thr343=) | ClinVar dbSNP |
| 13 | g.108210252T= | CA2117794562 | LIG4 | c.816A= (p.Thr272=) c.1017A= (p.Thr339=) c.1053A= (p.Thr351=) c.1029A= (p.Thr343=) | |
| 13 | g.108210253G>A | CA7043763 | LIG4 | c.815C>T (p.Thr272Ile) c.1016C>T (p.Thr339Ile) c.1052C>T (p.Thr351Ile) c.1028C>T (p.Thr343Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108210253G>C | CA388618761 | LIG4 | c.815C>G (p.Thr272Arg) c.1016C>G (p.Thr339Arg) c.1052C>G (p.Thr351Arg) c.1028C>G (p.Thr343Arg) | |
| 13 | g.108210253G= | CA2117794563 | LIG4 | c.815C= (p.Thr272=) c.1016C= (p.Thr339=) c.1052C= (p.Thr351=) c.1028C= (p.Thr343=) | |
| 13 | g.108210253G>T | CA388618759 | LIG4 | c.815C>A (p.Thr272Lys) c.1016C>A (p.Thr339Lys) c.1052C>A (p.Thr351Lys) c.1028C>A (p.Thr343Lys) | |
| 13 | g.108210254T>A | CA388618764 | LIG4 | c.814A>T (p.Thr272Ser) c.1015A>T (p.Thr339Ser) c.1051A>T (p.Thr351Ser) c.1027A>T (p.Thr343Ser) | |
| 13 | g.108210254T>C | CA388618765 | LIG4 | c.814A>G (p.Thr272Ala) c.1015A>G (p.Thr339Ala) c.1051A>G (p.Thr351Ala) c.1027A>G (p.Thr343Ala) | dbSNP gnomAD v4 |
| 13 | g.108210254T>G | CA388618766 | LIG4 | c.814A>C (p.Thr272Pro) c.1015A>C (p.Thr339Pro) c.1051A>C (p.Thr351Pro) c.1027A>C (p.Thr343Pro) | |
| 13 | g.108210254T= | CA2117794564 | LIG4 | c.814A= (p.Thr272=) c.1015A= (p.Thr339=) c.1051A= (p.Thr351=) c.1027A= (p.Thr343=) | |
| 13 | g.108210255A>C | CA388618767 | LIG4 | c.813T>G (p.Asn271Lys) c.1014T>G (p.Asn338Lys) c.1050T>G (p.Asn350Lys) c.1026T>G (p.Asn342Lys) | |
| 13 | g.108210255A>G | CA484975454 | LIG4 | c.813T>C (p.Asn271=) c.1014T>C (p.Asn338=) c.1050T>C (p.Asn350=) c.1026T>C (p.Asn342=) | |
| 13 | g.108210255A>T | CA388618769 | LIG4 | c.813T>A (p.Asn271Lys) c.1014T>A (p.Asn338Lys) c.1050T>A (p.Asn350Lys) c.1026T>A (p.Asn342Lys) | gnomAD v4 |
| 13 | g.108210256T>A | CA388618772 | LIG4 | c.812A>T (p.Asn271Ile) c.1013A>T (p.Asn338Ile) c.1049A>T (p.Asn350Ile) c.1025A>T (p.Asn342Ile) | |
| 13 | g.108210256T>C | CA388618773 | LIG4 | c.812A>G (p.Asn271Ser) c.1013A>G (p.Asn338Ser) c.1049A>G (p.Asn350Ser) c.1025A>G (p.Asn342Ser) | gnomAD v4 |
| 13 | g.108210256T>G | CA388618775 | LIG4 | c.812A>C (p.Asn271Thr) c.1013A>C (p.Asn338Thr) c.1049A>C (p.Asn350Thr) c.1025A>C (p.Asn342Thr) | |
| 13 | g.108210257T>A | CA388618785 | LIG4 | c.811A>T (p.Asn271Tyr) c.1012A>T (p.Asn338Tyr) c.1048A>T (p.Asn350Tyr) c.1024A>T (p.Asn342Tyr) | |
| 13 | g.108210257T>C | CA388618787 | LIG4 | c.811A>G (p.Asn271Asp) c.1012A>G (p.Asn338Asp) c.1048A>G (p.Asn350Asp) c.1024A>G (p.Asn342Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108210257T>G | CA388618791 | LIG4 | c.811A>C (p.Asn271His) c.1012A>C (p.Asn338His) c.1048A>C (p.Asn350His) c.1024A>C (p.Asn342His) | |
| 13 | g.108210257T= | CA2117794565 | LIG4 | c.811A= (p.Asn271=) c.1012A= (p.Asn338=) c.1048A= (p.Asn350=) c.1024A= (p.Asn342=) | |
| 13 | g.108210258A= | CA2117794566 | LIG4 | c.810T= (p.Pro270=) c.1011T= (p.Pro337=) c.1047T= (p.Pro349=) c.1023T= (p.Pro341=) | |
| 13 | g.108210258A>C | CA484975467 | LIG4 | c.810T>G (p.Pro270=) c.1011T>G (p.Pro337=) c.1047T>G (p.Pro349=) c.1023T>G (p.Pro341=) | |
| 13 | g.108210258A>G | CA484975468 | LIG4 | c.810T>C (p.Pro270=) c.1011T>C (p.Pro337=) c.1047T>C (p.Pro349=) c.1023T>C (p.Pro341=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108210258A>T | CA484975470 | LIG4 | c.810T>A (p.Pro270=) c.1011T>A (p.Pro337=) c.1047T>A (p.Pro349=) c.1023T>A (p.Pro341=) | |
| 13 | g.108210259G>A | CA388618794 | LIG4 | c.809C>T (p.Pro270Leu) c.1010C>T (p.Pro337Leu) c.1046C>T (p.Pro349Leu) c.1022C>T (p.Pro341Leu) | |
| 13 | g.108210259G>C | CA388618799 | LIG4 | c.809C>G (p.Pro270Arg) c.1010C>G (p.Pro337Arg) c.1046C>G (p.Pro349Arg) c.1022C>G (p.Pro341Arg) | gnomAD v4 |
| 13 | g.108210259G>T | CA388618796 | LIG4 | c.809C>A (p.Pro270His) c.1010C>A (p.Pro337His) c.1046C>A (p.Pro349His) c.1022C>A (p.Pro341His) | |
| 13 | g.108210260G>A | CA388618800 | LIG4 | c.808C>T (p.Pro270Ser) c.1009C>T (p.Pro337Ser) c.1045C>T (p.Pro349Ser) c.1021C>T (p.Pro341Ser) | |
| 13 | g.108210260G>C | CA388618802 | LIG4 | c.808C>G (p.Pro270Ala) c.1009C>G (p.Pro337Ala) c.1045C>G (p.Pro349Ala) c.1021C>G (p.Pro341Ala) | |
| 13 | g.108210260G>T | CA388618804 | LIG4 | c.808C>A (p.Pro270Thr) c.1009C>A (p.Pro337Thr) c.1045C>A (p.Pro349Thr) c.1021C>A (p.Pro341Thr) | |
| 13 | g.108210261A>C | CA388618807 | LIG4 | c.807T>G (p.Asn269Lys) c.1008T>G (p.Asn336Lys) c.1044T>G (p.Asn348Lys) c.1020T>G (p.Asn340Lys) | |
| 13 | g.108210261A>G | CA484975474 | LIG4 | c.807T>C (p.Asn269=) c.1008T>C (p.Asn336=) c.1044T>C (p.Asn348=) c.1020T>C (p.Asn340=) | gnomAD v4 |
| 13 | g.108210261A>T | CA388618809 | LIG4 | c.807T>A (p.Asn269Lys) c.1008T>A (p.Asn336Lys) c.1044T>A (p.Asn348Lys) c.1020T>A (p.Asn340Lys) | |
| 13 | g.108210262T>A | CA388618812 | LIG4 | c.806A>T (p.Asn269Ile) c.1007A>T (p.Asn336Ile) c.1043A>T (p.Asn348Ile) c.1019A>T (p.Asn340Ile) | |
| 13 | g.108210262T>C | CA388618817 | LIG4 | c.806A>G (p.Asn269Ser) c.1007A>G (p.Asn336Ser) c.1043A>G (p.Asn348Ser) c.1019A>G (p.Asn340Ser) | |
| 13 | g.108210262T>G | CA388618819 | LIG4 | c.806A>C (p.Asn269Thr) c.1007A>C (p.Asn336Thr) c.1043A>C (p.Asn348Thr) c.1019A>C (p.Asn340Thr) | |
| 13 | g.108210263T>A | CA388618821 | LIG4 | c.805A>T (p.Asn269Tyr) c.1006A>T (p.Asn336Tyr) c.1042A>T (p.Asn348Tyr) c.1018A>T (p.Asn340Tyr) | |
| 13 | g.108210263T>C | CA388618822 | LIG4 | c.805A>G (p.Asn269Asp) c.1006A>G (p.Asn336Asp) c.1042A>G (p.Asn348Asp) c.1018A>G (p.Asn340Asp) | |
| 13 | g.108210263T>G | CA388618825 | LIG4 | c.805A>C (p.Asn269His) c.1006A>C (p.Asn336His) c.1042A>C (p.Asn348His) c.1018A>C (p.Asn340His) | |
| 13 | g.108210264A>C | CA388618827 | LIG4 | c.804T>G (p.Tyr268Ter) c.1005T>G (p.Tyr335Ter) c.1041T>G (p.Tyr347Ter) c.1017T>G (p.Tyr339Ter) | |
| 13 | g.108210264A>G | CA484975482 | LIG4 | c.804T>C (p.Tyr268=) c.1005T>C (p.Tyr335=) c.1041T>C (p.Tyr347=) c.1017T>C (p.Tyr339=) | ClinVar |
| 13 | g.108210264A>T | CA388618828 | LIG4 | c.804T>A (p.Tyr268Ter) c.1005T>A (p.Tyr335Ter) c.1041T>A (p.Tyr347Ter) c.1017T>A (p.Tyr339Ter) | |
| 13 | g.108210265T>A | CA388618829 | LIG4 | c.803A>T (p.Tyr268Phe) c.1004A>T (p.Tyr335Phe) c.1040A>T (p.Tyr347Phe) c.1016A>T (p.Tyr339Phe) | |
| 13 | g.108210265T>C | CA7043764 | LIG4 | c.803A>G (p.Tyr268Cys) c.1004A>G (p.Tyr335Cys) c.1040A>G (p.Tyr347Cys) c.1016A>G (p.Tyr339Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108210265T>G | CA388618831 | LIG4 | c.803A>C (p.Tyr268Ser) c.1004A>C (p.Tyr335Ser) c.1040A>C (p.Tyr347Ser) c.1016A>C (p.Tyr339Ser) | |
| 13 | g.108210265T= | CA2117794567 | LIG4 | c.803A= (p.Tyr268=) c.1004A= (p.Tyr335=) c.1040A= (p.Tyr347=) c.1016A= (p.Tyr339=) | |
| 13 | g.108210266A>C | CA388618836 | LIG4 | c.802T>G (p.Tyr268Asp) c.1003T>G (p.Tyr335Asp) c.1039T>G (p.Tyr347Asp) c.1015T>G (p.Tyr339Asp) | |
| 13 | g.108210266A>G | CA388618837 | LIG4 | c.802T>C (p.Tyr268His) c.1003T>C (p.Tyr335His) c.1039T>C (p.Tyr347His) c.1015T>C (p.Tyr339His) | |
| 13 | g.108210266A>T | CA388618839 | LIG4 | c.802T>A (p.Tyr268Asn) c.1003T>A (p.Tyr335Asn) c.1039T>A (p.Tyr347Asn) c.1015T>A (p.Tyr339Asn) | |
| 13 | g.108210267G>A | CA484975488 | LIG4 | c.801C>T (p.Ala267=) c.1002C>T (p.Ala334=) c.1038C>T (p.Ala346=) c.1014C>T (p.Ala338=) | |
| 13 | g.108210267G>C | CA484975490 | LIG4 | c.801C>G (p.Ala267=) c.1002C>G (p.Ala334=) c.1038C>G (p.Ala346=) c.1014C>G (p.Ala338=) | dbSNP |
| 13 | g.108210267G= | CA2117794568 | LIG4 | c.801C= (p.Ala267=) c.1002C= (p.Ala334=) c.1038C= (p.Ala346=) c.1014C= (p.Ala338=) | |
| 13 | g.108210267G>T | CA484975492 | LIG4 | c.801C>A (p.Ala267=) c.1002C>A (p.Ala334=) c.1038C>A (p.Ala346=) c.1014C>A (p.Ala338=) | |
| 13 | g.108210268G>A | CA388618847 | LIG4 | c.800C>T (p.Ala267Val) c.1001C>T (p.Ala334Val) c.1037C>T (p.Ala346Val) c.1013C>T (p.Ala338Val) | |
| 13 | g.108210268G>C | CA388618849 | LIG4 | c.800C>G (p.Ala267Gly) c.1001C>G (p.Ala334Gly) c.1037C>G (p.Ala346Gly) c.1013C>G (p.Ala338Gly) | |
| 13 | g.108210268G>T | CA388618850 | LIG4 | c.800C>A (p.Ala267Asp) c.1001C>A (p.Ala334Asp) c.1037C>A (p.Ala346Asp) c.1013C>A (p.Ala338Asp) | |
| 13 | g.108210269C>A | CA388618852 | LIG4 | c.799G>T (p.Ala267Ser) c.1000G>T (p.Ala334Ser) c.1036G>T (p.Ala346Ser) c.1012G>T (p.Ala338Ser) | |
| 13 | g.108210269C= | CA2117794569 | LIG4 | c.799G= (p.Ala267=) c.1000G= (p.Ala334=) c.1036G= (p.Ala346=) c.1012G= (p.Ala338=) | |
| 13 | g.108210269C>G | CA388618855 | LIG4 | c.799G>C (p.Ala267Pro) c.1000G>C (p.Ala334Pro) c.1036G>C (p.Ala346Pro) c.1012G>C (p.Ala338Pro) | |
| 13 | g.108210269C>T | CA7043765 | LIG4 | c.799G>A (p.Ala267Thr) c.1000G>A (p.Ala334Thr) c.1036G>A (p.Ala346Thr) c.1012G>A (p.Ala338Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108210270C>A | CA388618862 | LIG4 | c.798G>T (p.Met266Ile) c.999G>T (p.Met333Ile) c.1035G>T (p.Met345Ile) c.1011G>T (p.Met337Ile) | |
| 13 | g.108210270C>G | CA388618860 | LIG4 | c.798G>C (p.Met266Ile) c.999G>C (p.Met333Ile) c.1035G>C (p.Met345Ile) c.1011G>C (p.Met337Ile) | |
| 13 | g.108210270C>T | CA388618859 | LIG4 | c.798G>A (p.Met266Ile) c.999G>A (p.Met333Ile) c.1035G>A (p.Met345Ile) c.1011G>A (p.Met337Ile) | gnomAD v4 |
| 13 | g.108210271A>C | CA388618865 | LIG4 | c.797T>G (p.Met266Arg) c.998T>G (p.Met333Arg) c.1034T>G (p.Met345Arg) c.1010T>G (p.Met337Arg) | |
| 13 | g.108210271A>G | CA388618867 | LIG4 | c.797T>C (p.Met266Thr) c.998T>C (p.Met333Thr) c.1034T>C (p.Met345Thr) c.1010T>C (p.Met337Thr) | gnomAD v4 |
| 13 | g.108210271A>T | CA388618866 | LIG4 | c.797T>A (p.Met266Lys) c.998T>A (p.Met333Lys) c.1034T>A (p.Met345Lys) c.1010T>A (p.Met337Lys) | |
| 13 | g.108210272T>A | CA388618868 | LIG4 | c.796A>T (p.Met266Leu) c.997A>T (p.Met333Leu) c.1033A>T (p.Met345Leu) c.1009A>T (p.Met337Leu) | |
| 13 | g.108210272T>C | CA388618869 | LIG4 | c.796A>G (p.Met266Val) c.997A>G (p.Met333Val) c.1033A>G (p.Met345Val) c.1009A>G (p.Met337Val) | |
| 13 | g.108210272T>G | CA388618870 | LIG4 | c.796A>C (p.Met266Leu) c.997A>C (p.Met333Leu) c.1033A>C (p.Met345Leu) c.1009A>C (p.Met337Leu) | |
| 13 | g.108210273C>A | CA388618872 | LIG4 | c.795G>T (p.Met265Ile) c.996G>T (p.Met332Ile) c.1032G>T (p.Met344Ile) c.1008G>T (p.Met336Ile) | |
| 13 | g.108210273C>G | CA388618873 | LIG4 | c.795G>C (p.Met265Ile) c.996G>C (p.Met332Ile) c.1032G>C (p.Met344Ile) c.1008G>C (p.Met336Ile) | |
| 13 | g.108210273C>T | CA388618875 | LIG4 | c.795G>A (p.Met265Ile) c.996G>A (p.Met332Ile) c.1032G>A (p.Met344Ile) c.1008G>A (p.Met336Ile) | |
| 13 | g.108210274A= | CA2117794570 | LIG4 | c.794T= (p.Met265=) c.995T= (p.Met332=) c.1031T= (p.Met344=) c.1007T= (p.Met336=) | |
| 13 | g.108210274A>C | CA388618878 | LIG4 | c.794T>G (p.Met265Arg) c.995T>G (p.Met332Arg) c.1031T>G (p.Met344Arg) c.1007T>G (p.Met336Arg) | |
| 13 | g.108210274A>G | CA388618880 | LIG4 | c.794T>C (p.Met265Thr) c.995T>C (p.Met332Thr) c.1031T>C (p.Met344Thr) c.1007T>C (p.Met336Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108210274A>T | CA388618881 | LIG4 | c.794T>A (p.Met265Lys) c.995T>A (p.Met332Lys) c.1031T>A (p.Met344Lys) c.1007T>A (p.Met336Lys) | |
| 13 | g.108210275T>A | CA388618883 | LIG4 | c.793A>T (p.Met265Leu) c.994A>T (p.Met332Leu) c.1030A>T (p.Met344Leu) c.1006A>T (p.Met336Leu) | gnomAD v4 |
| 13 | g.108210275T>C | CA388618885 | LIG4 | c.793A>G (p.Met265Val) c.994A>G (p.Met332Val) c.1030A>G (p.Met344Val) c.1006A>G (p.Met336Val) | gnomAD v4 |
| 13 | g.108210275T>G | CA388618886 | LIG4 | c.793A>C (p.Met265Leu) c.994A>C (p.Met332Leu) c.1030A>C (p.Met344Leu) c.1006A>C (p.Met336Leu) | |
| 13 | g.108210276C>A | CA388618890 | LIG4 | c.792G>T (p.Glu264Asp) c.993G>T (p.Glu331Asp) c.1029G>T (p.Glu343Asp) c.1005G>T (p.Glu335Asp) | |
| 13 | g.108210276C>G | CA388618889 | LIG4 | c.792G>C (p.Glu264Asp) c.993G>C (p.Glu331Asp) c.1029G>C (p.Glu343Asp) c.1005G>C (p.Glu335Asp) | |
| 13 | g.108210276C>T | CA484975507 | LIG4 | c.792G>A (p.Glu264=) c.993G>A (p.Glu331=) c.1029G>A (p.Glu343=) c.1005G>A (p.Glu335=) | |
| 13 | g.108210277T>A | CA388618893 | LIG4 | c.791A>T (p.Glu264Val) c.992A>T (p.Glu331Val) c.1028A>T (p.Glu343Val) c.1004A>T (p.Glu335Val) | |
| 13 | g.108210277T>C | CA388618895 | LIG4 | c.791A>G (p.Glu264Gly) c.992A>G (p.Glu331Gly) c.1028A>G (p.Glu343Gly) c.1004A>G (p.Glu335Gly) | |
| 13 | g.108210277T>G | CA388618901 | LIG4 | c.791A>C (p.Glu264Ala) c.992A>C (p.Glu331Ala) c.1028A>C (p.Glu343Ala) c.1004A>C (p.Glu335Ala) | |
| 13 | g.108210278C>A | CA388618905 | LIG4 | c.790G>T (p.Glu264Ter) c.991G>T (p.Glu331Ter) c.1027G>T (p.Glu343Ter) c.1003G>T (p.Glu335Ter) | |
| 13 | g.108210278C>G | CA388618914 | LIG4 | c.790G>C (p.Glu264Gln) c.991G>C (p.Glu331Gln) c.1027G>C (p.Glu343Gln) c.1003G>C (p.Glu335Gln) | |
| 13 | g.108210278C>T | CA388618916 | LIG4 | c.790G>A (p.Glu264Lys) c.991G>A (p.Glu331Lys) c.1027G>A (p.Glu343Lys) c.1003G>A (p.Glu335Lys) | gnomAD v4 |
| 13 | g.108210279A>C | CA484975511 | LIG4 | c.789T>G (p.Gly263=) c.990T>G (p.Gly330=) c.1026T>G (p.Gly342=) c.1002T>G (p.Gly334=) | gnomAD v4 |
| 13 | g.108210279A>G | CA484975512 | LIG4 | c.789T>C (p.Gly263=) c.990T>C (p.Gly330=) c.1026T>C (p.Gly342=) c.1002T>C (p.Gly334=) | |
| 13 | g.108210279A>T | CA484975513 | LIG4 | c.789T>A (p.Gly263=) c.990T>A (p.Gly330=) c.1026T>A (p.Gly342=) c.1002T>A (p.Gly334=) | |
| 13 | g.108210280C>A | CA388618919 | LIG4 | c.788G>T (p.Gly263Val) c.989G>T (p.Gly330Val) c.1025G>T (p.Gly342Val) c.1001G>T (p.Gly334Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108210280C= | CA2117794571 | LIG4 | c.788G= (p.Gly263=) c.989G= (p.Gly330=) c.1025G= (p.Gly342=) c.1001G= (p.Gly334=) | |
| 13 | g.108210280C>G | CA388618921 | LIG4 | c.788G>C (p.Gly263Ala) c.989G>C (p.Gly330Ala) c.1025G>C (p.Gly342Ala) c.1001G>C (p.Gly334Ala) | |
| 13 | g.108210280C>T | CA388618922 | LIG4 | c.788G>A (p.Gly263Asp) c.989G>A (p.Gly330Asp) c.1025G>A (p.Gly342Asp) c.1001G>A (p.Gly334Asp) | dbSNP |
| 13 | g.108210281C>A | CA388618924 | LIG4 | c.787G>T (p.Gly263Cys) c.988G>T (p.Gly330Cys) c.1024G>T (p.Gly342Cys) c.1000G>T (p.Gly334Cys) | |
| 13 | g.108210281C>G | CA388618925 | LIG4 | c.787G>C (p.Gly263Arg) c.988G>C (p.Gly330Arg) c.1024G>C (p.Gly342Arg) c.1000G>C (p.Gly334Arg) | |
| 13 | g.108210281C>T | CA388618926 | LIG4 | c.787G>A (p.Gly263Ser) c.988G>A (p.Gly330Ser) c.1024G>A (p.Gly342Ser) c.1000G>A (p.Gly334Ser) | |
| 13 | g.108210282A>C | CA388618928 | LIG4 | c.786T>G (p.Asp262Glu) c.987T>G (p.Asp329Glu) c.1023T>G (p.Asp341Glu) c.999T>G (p.Asp333Glu) | |
| 13 | g.108210282A>G | CA484975514 | LIG4 | c.786T>C (p.Asp262=) c.987T>C (p.Asp329=) c.1023T>C (p.Asp341=) c.999T>C (p.Asp333=) | |
| 13 | g.108210282A>T | CA388618930 | LIG4 | c.786T>A (p.Asp262Glu) c.987T>A (p.Asp329Glu) c.1023T>A (p.Asp341Glu) c.999T>A (p.Asp333Glu) | |
| 13 | g.108210283T>A | CA388618932 | LIG4 | c.785A>T (p.Asp262Val) c.986A>T (p.Asp329Val) c.1022A>T (p.Asp341Val) c.998A>T (p.Asp333Val) | |
| 13 | g.108210283T>C | CA388618934 | LIG4 | c.785A>G (p.Asp262Gly) c.986A>G (p.Asp329Gly) c.1022A>G (p.Asp341Gly) c.998A>G (p.Asp333Gly) | |
| 13 | g.108210283T>G | CA388618937 | LIG4 | c.785A>C (p.Asp262Ala) c.986A>C (p.Asp329Ala) c.1022A>C (p.Asp341Ala) c.998A>C (p.Asp333Ala) | |
| 13 | g.108210284C>A | CA388618939 | LIG4 | c.784G>T (p.Asp262Tyr) c.985G>T (p.Asp329Tyr) c.1021G>T (p.Asp341Tyr) c.997G>T (p.Asp333Tyr) | |
| 13 | g.108210284C>G | CA388618942 | LIG4 | c.784G>C (p.Asp262His) c.985G>C (p.Asp329His) c.1021G>C (p.Asp341His) c.997G>C (p.Asp333His) | |
| 13 | g.108210284C>T | CA388618945 | LIG4 | c.784G>A (p.Asp262Asn) c.985G>A (p.Asp329Asn) c.1021G>A (p.Asp341Asn) c.997G>A (p.Asp333Asn) | |
| 13 | g.108210285A>C | CA484975521 | LIG4 | c.783T>G (p.Leu261=) c.984T>G (p.Leu328=) c.1020T>G (p.Leu340=) c.996T>G (p.Leu332=) | |
| 13 | g.108210285A>G | CA484975519 | LIG4 | c.783T>C (p.Leu261=) c.984T>C (p.Leu328=) c.1020T>C (p.Leu340=) c.996T>C (p.Leu332=) | |
| 13 | g.108210285A>T | CA484975518 | LIG4 | c.783T>A (p.Leu261=) c.984T>A (p.Leu328=) c.1020T>A (p.Leu340=) c.996T>A (p.Leu332=) | |
| 13 | g.108210287_108210289del | CA2623644151 | LIG4 | c.781_783del (p.Leu261del) c.982_984del (p.Leu328del) c.1018_1020del (p.Leu340del) c.994_996del (p.Leu332del) | gnomAD v4 |
| 13 | g.108210286A>C | CA388618948 | LIG4 | c.782T>G (p.Leu261Arg) c.983T>G (p.Leu328Arg) c.1019T>G (p.Leu340Arg) c.995T>G (p.Leu332Arg) | |
| 13 | g.108210286A>G | CA388618949 | LIG4 | c.782T>C (p.Leu261Pro) c.983T>C (p.Leu328Pro) c.1019T>C (p.Leu340Pro) c.995T>C (p.Leu332Pro) | gnomAD v4 |
| 13 | g.108210286A>T | CA388618951 | LIG4 | c.782T>A (p.Leu261His) c.983T>A (p.Leu328His) c.1019T>A (p.Leu340His) c.995T>A (p.Leu332His) | |
| 13 | g.108210287G>A | CA388618954 | LIG4 | c.781C>T (p.Leu261Phe) c.982C>T (p.Leu328Phe) c.1018C>T (p.Leu340Phe) c.994C>T (p.Leu332Phe) | gnomAD v4 |
| 13 | g.108210287G>C | CA388618956 | LIG4 | c.781C>G (p.Leu261Val) c.982C>G (p.Leu328Val) c.1018C>G (p.Leu340Val) c.994C>G (p.Leu332Val) | |
| 13 | g.108210287G>T | CA388618959 | LIG4 | c.781C>A (p.Leu261Ile) c.982C>A (p.Leu328Ile) c.1018C>A (p.Leu340Ile) c.994C>A (p.Leu332Ile) | COSMIC |
| 13 | g.108210288A>C | CA388618964 | LIG4 | c.780T>G (p.Ile260Met) c.981T>G (p.Ile327Met) c.1017T>G (p.Ile339Met) c.993T>G (p.Ile331Met) | gnomAD v4 |
| 13 | g.108210288A>G | CA484975533 | LIG4 | c.780T>C (p.Ile260=) c.981T>C (p.Ile327=) c.1017T>C (p.Ile339=) c.993T>C (p.Ile331=) | |
| 13 | g.108210288A>T | CA484975532 | LIG4 | c.780T>A (p.Ile260=) c.981T>A (p.Ile327=) c.1017T>A (p.Ile339=) c.993T>A (p.Ile331=) | |
| 13 | g.108210289A= | CA2117794572 | LIG4 | c.779T= (p.Ile260=) c.980T= (p.Ile327=) c.1016T= (p.Ile339=) c.992T= (p.Ile331=) | |
| 13 | g.108210289A>C | CA388618968 | LIG4 | c.779T>G (p.Ile260Ser) c.980T>G (p.Ile327Ser) c.1016T>G (p.Ile339Ser) c.992T>G (p.Ile331Ser) | |
| 13 | g.108210289A>G | CA388618965 | LIG4 | c.779T>C (p.Ile260Thr) c.980T>C (p.Ile327Thr) c.1016T>C (p.Ile339Thr) c.992T>C (p.Ile331Thr) | dbSNP |
| 13 | g.108210289A>T | CA388618967 | LIG4 | c.779T>A (p.Ile260Asn) c.980T>A (p.Ile327Asn) c.1016T>A (p.Ile339Asn) c.992T>A (p.Ile331Asn) | |
| 13 | g.108210290T>A | CA388618971 | LIG4 | c.778A>T (p.Ile260Phe) c.979A>T (p.Ile327Phe) c.1015A>T (p.Ile339Phe) c.991A>T (p.Ile331Phe) | |
| 13 | g.108210290T>C | CA388618974 | LIG4 | c.778A>G (p.Ile260Val) c.979A>G (p.Ile327Val) c.1015A>G (p.Ile339Val) c.991A>G (p.Ile331Val) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108210290T>G | CA388618977 | LIG4 | c.778A>C (p.Ile260Leu) c.979A>C (p.Ile327Leu) c.1015A>C (p.Ile339Leu) c.991A>C (p.Ile331Leu) | |
| 13 | g.108210290T= | CA2117794573 | LIG4 | c.778A= (p.Ile260=) c.979A= (p.Ile327=) c.1015A= (p.Ile339=) c.991A= (p.Ile331=) | |
| 13 | g.108210291A>C | CA388618983 | LIG4 | c.777T>G (p.Cys259Trp) c.978T>G (p.Cys326Trp) c.1014T>G (p.Cys338Trp) c.990T>G (p.Cys330Trp) | |
| 13 | g.108210291A>G | CA484975537 | LIG4 | c.777T>C (p.Cys259=) c.978T>C (p.Cys326=) c.1014T>C (p.Cys338=) c.990T>C (p.Cys330=) | |
| 13 | g.108210291A>T | CA388618988 | LIG4 | c.777T>A (p.Cys259Ter) c.978T>A (p.Cys326Ter) c.1014T>A (p.Cys338Ter) c.990T>A (p.Cys330Ter) | |
| 13 | g.108210292C>A | CA388618992 | LIG4 | c.776G>T (p.Cys259Phe) c.977G>T (p.Cys326Phe) c.1013G>T (p.Cys338Phe) c.989G>T (p.Cys330Phe) | |
| 13 | g.108210292C>G | CA388618993 | LIG4 | c.776G>C (p.Cys259Ser) c.977G>C (p.Cys326Ser) c.1013G>C (p.Cys338Ser) c.989G>C (p.Cys330Ser) | |
| 13 | g.108210292C>T | CA388618995 | LIG4 | c.776G>A (p.Cys259Tyr) c.977G>A (p.Cys326Tyr) c.1013G>A (p.Cys338Tyr) c.989G>A (p.Cys330Tyr) | |
| 13 | g.108210293A= | CA2117794574 | LIG4 | c.775T= (p.Cys259=) c.976T= (p.Cys326=) c.1012T= (p.Cys338=) c.988T= (p.Cys330=) | |
| 13 | g.108210293A>C | CA388619004 | LIG4 | c.775T>G (p.Cys259Gly) c.976T>G (p.Cys326Gly) c.1012T>G (p.Cys338Gly) c.988T>G (p.Cys330Gly) | |
| 13 | g.108210293A>G | CA388619007 | LIG4 | c.775T>C (p.Cys259Arg) c.976T>C (p.Cys326Arg) c.1012T>C (p.Cys338Arg) c.988T>C (p.Cys330Arg) | |
| 13 | g.108210293A>T | CA388619008 | LIG4 | c.775T>A (p.Cys259Ser) c.976T>A (p.Cys326Ser) c.1012T>A (p.Cys338Ser) c.988T>A (p.Cys330Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108210294G>A | CA484975544 | LIG4 | c.774C>T (p.Ile258=) c.975C>T (p.Ile325=) c.1011C>T (p.Ile337=) c.987C>T (p.Ile329=) | |
| 13 | g.108210294G>C | CA388619011 | LIG4 | c.774C>G (p.Ile258Met) c.975C>G (p.Ile325Met) c.1011C>G (p.Ile337Met) c.987C>G (p.Ile329Met) | |
| 13 | g.108210294G>T | CA484975545 | LIG4 | c.774C>A (p.Ile258=) c.975C>A (p.Ile325=) c.1011C>A (p.Ile337=) c.987C>A (p.Ile329=) | |
| 13 | g.108210295A>C | CA388619015 | LIG4 | c.773T>G (p.Ile258Ser) c.974T>G (p.Ile325Ser) c.1010T>G (p.Ile337Ser) c.986T>G (p.Ile329Ser) | |
| 13 | g.108210295A>G | CA388619018 | LIG4 | c.773T>C (p.Ile258Thr) c.974T>C (p.Ile325Thr) c.1010T>C (p.Ile337Thr) c.986T>C (p.Ile329Thr) | |
| 13 | g.108210295A>T | CA388619014 | LIG4 | c.773T>A (p.Ile258Asn) c.974T>A (p.Ile325Asn) c.1010T>A (p.Ile337Asn) c.986T>A (p.Ile329Asn) | |
| 13 | g.108210296T>A | CA388619022 | LIG4 | c.772A>T (p.Ile258Phe) c.973A>T (p.Ile325Phe) c.1009A>T (p.Ile337Phe) c.985A>T (p.Ile329Phe) | |
| 13 | g.108210296T>C | CA388619020 | LIG4 | c.772A>G (p.Ile258Val) c.973A>G (p.Ile325Val) c.1009A>G (p.Ile337Val) c.985A>G (p.Ile329Val) | dbSNP COSMIC |
| 13 | g.108210296T>G | CA388619024 | LIG4 | c.772A>C (p.Ile258Leu) c.973A>C (p.Ile325Leu) c.1009A>C (p.Ile337Leu) c.985A>C (p.Ile329Leu) | gnomAD v4 |
| 13 | g.108210296T= | CA2117794575 | LIG4 | c.772A= (p.Ile258=) c.973A= (p.Ile325=) c.1009A= (p.Ile337=) c.985A= (p.Ile329=) | |
| 13 | g.108210297_108210298dup | CA2623644162 | LIG4 | c.771_772dup (p.Ile258LysfsTer9) c.972_973dup (p.Ile325LysfsTer9) c.1008_1009dup (p.Ile337LysfsTer9) c.984_985dup (p.Ile329LysfsTer9) | gnomAD v4 |
| 13 | g.108210297T>A | CA388619027 | LIG4 | c.771A>T (p.Gln257His) c.972A>T (p.Gln324His) c.1008A>T (p.Gln336His) c.984A>T (p.Gln328His) | |
| 13 | g.108210297T>C | CA484975550 | LIG4 | c.771A>G (p.Gln257=) c.972A>G (p.Gln324=) c.1008A>G (p.Gln336=) c.984A>G (p.Gln328=) | COSMIC |
| 13 | g.108210297T>G | CA388619029 | LIG4 | c.771A>C (p.Gln257His) c.972A>C (p.Gln324His) c.1008A>C (p.Gln336His) c.984A>C (p.Gln328His) | gnomAD v4 |
| 13 | g.108210298T>A | CA388619031 | LIG4 | c.770A>T (p.Gln257Leu) c.971A>T (p.Gln324Leu) c.1007A>T (p.Gln336Leu) c.983A>T (p.Gln328Leu) | |
| 13 | g.108210298T>C | CA388619033 | LIG4 | c.770A>G (p.Gln257Arg) c.971A>G (p.Gln324Arg) c.1007A>G (p.Gln336Arg) c.983A>G (p.Gln328Arg) | ClinVar dbSNP |
| 13 | g.108210298T>G | CA388619034 | LIG4 | c.770A>C (p.Gln257Pro) c.971A>C (p.Gln324Pro) c.1007A>C (p.Gln336Pro) c.983A>C (p.Gln328Pro) | |
| 13 | g.108210298T= | CA2117794576 | LIG4 | c.770A= (p.Gln257=) c.971A= (p.Gln324=) c.1007A= (p.Gln336=) c.983A= (p.Gln328=) | |
| 13 | g.108210299G>A | CA388619037 | LIG4 | c.769C>T (p.Gln257Ter) c.970C>T (p.Gln324Ter) c.1006C>T (p.Gln336Ter) c.982C>T (p.Gln328Ter) | gnomAD v4 |
| 13 | g.108210299G>C | CA388619039 | LIG4 | c.769C>G (p.Gln257Glu) c.970C>G (p.Gln324Glu) c.1006C>G (p.Gln336Glu) c.982C>G (p.Gln328Glu) | |
| 13 | g.108210299G>T | CA388619040 | LIG4 | c.769C>A (p.Gln257Lys) c.970C>A (p.Gln324Lys) c.1006C>A (p.Gln336Lys) c.982C>A (p.Gln328Lys) | gnomAD v4 |
| 13 | g.108210300T>A | CA7043766 | LIG4 | c.768A>T (p.Ile256=) c.969A>T (p.Ile323=) c.1005A>T (p.Ile335=) c.981A>T (p.Ile327=) | dbSNP ExAC |
| 13 | g.108210300T>C | CA388619043 | LIG4 | c.768A>G (p.Ile256Met) c.969A>G (p.Ile323Met) c.1005A>G (p.Ile335Met) c.981A>G (p.Ile327Met) | |
| 13 | g.108210300T>G | CA484975555 | LIG4 | c.768A>C (p.Ile256=) c.969A>C (p.Ile323=) c.1005A>C (p.Ile335=) c.981A>C (p.Ile327=) | |
| 13 | g.108210300T= | CA2117794577 | LIG4 | c.768A= (p.Ile256=) c.969A= (p.Ile323=) c.1005A= (p.Ile335=) c.981A= (p.Ile327=) | |
| 13 | g.108210301A= | CA2117794578 | LIG4 | c.767T= (p.Ile256=) c.968T= (p.Ile323=) c.1004T= (p.Ile335=) c.980T= (p.Ile327=) | |
| 13 | g.108210301A>C | CA388619046 | LIG4 | c.767T>G (p.Ile256Arg) c.968T>G (p.Ile323Arg) c.1004T>G (p.Ile335Arg) c.980T>G (p.Ile327Arg) | gnomAD v4 |
| 13 | g.108210301A>G | CA7043767 | LIG4 | c.767T>C (p.Ile256Thr) c.968T>C (p.Ile323Thr) c.1004T>C (p.Ile335Thr) c.980T>C (p.Ile327Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108210301A>T | CA388619050 | LIG4 | c.767T>A (p.Ile256Lys) c.968T>A (p.Ile323Lys) c.1004T>A (p.Ile335Lys) c.980T>A (p.Ile327Lys) | gnomAD v4 |
| 13 | g.108210302T>A | CA7043768 | LIG4 | c.766A>T (p.Ile256Leu) c.967A>T (p.Ile323Leu) c.1003A>T (p.Ile335Leu) c.979A>T (p.Ile327Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108210302T>C | CA388619056 | LIG4 | c.766A>G (p.Ile256Val) c.967A>G (p.Ile323Val) c.1003A>G (p.Ile335Val) c.979A>G (p.Ile327Val) | |
| 13 | g.108210302T>G | CA388619053 | LIG4 | c.766A>C (p.Ile256Leu) c.967A>C (p.Ile323Leu) c.1003A>C (p.Ile335Leu) c.979A>C (p.Ile327Leu) | |
| 13 | g.108210302T= | CA2117794579 | LIG4 | c.766A= (p.Ile256=) c.967A= (p.Ile323=) c.1003A= (p.Ile335=) c.979A= (p.Ile327=) | |
| 13 | g.108210303A>C | CA388619058 | LIG4 | c.765T>G (p.Asp255Glu) c.966T>G (p.Asp322Glu) c.1002T>G (p.Asp334Glu) c.978T>G (p.Asp326Glu) | |
| 13 | g.108210303A>G | CA484975560 | LIG4 | c.765T>C (p.Asp255=) c.966T>C (p.Asp322=) c.1002T>C (p.Asp334=) c.978T>C (p.Asp326=) | COSMIC |
| 13 | g.108210303A>T | CA388619060 | LIG4 | c.765T>A (p.Asp255Glu) c.966T>A (p.Asp322Glu) c.1002T>A (p.Asp334Glu) c.978T>A (p.Asp326Glu) | |
| 13 | g.108210304T>A | CA7043769 | LIG4 | c.764A>T (p.Asp255Val) c.965A>T (p.Asp322Val) c.1001A>T (p.Asp334Val) c.977A>T (p.Asp326Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108210304T>C | CA388619065 | LIG4 | c.764A>G (p.Asp255Gly) c.965A>G (p.Asp322Gly) c.1001A>G (p.Asp334Gly) c.977A>G (p.Asp326Gly) | gnomAD v4 |
| 13 | g.108210304T>G | CA388619067 | LIG4 | c.764A>C (p.Asp255Ala) c.965A>C (p.Asp322Ala) c.1001A>C (p.Asp334Ala) c.977A>C (p.Asp326Ala) | |
| 13 | g.108210304T= | CA2117794580 | LIG4 | c.764A= (p.Asp255=) c.965A= (p.Asp322=) c.1001A= (p.Asp334=) c.977A= (p.Asp326=) | |
| 13 | g.108210305C>A | CA388619070 | LIG4 | c.763G>T (p.Asp255Tyr) c.964G>T (p.Asp322Tyr) c.1000G>T (p.Asp334Tyr) c.976G>T (p.Asp326Tyr) | gnomAD v4 |
| 13 | g.108210305C= | CA2117794581 | LIG4 | c.763G= (p.Asp255=) c.964G= (p.Asp322=) c.1000G= (p.Asp334=) c.976G= (p.Asp326=) | |
| 13 | g.108210305C>G | CA388619072 | LIG4 | c.763G>C (p.Asp255His) c.964G>C (p.Asp322His) c.1000G>C (p.Asp334His) c.976G>C (p.Asp326His) | dbSNP |
| 13 | g.108210305C>T | CA388619073 | LIG4 | c.763G>A (p.Asp255Asn) c.964G>A (p.Asp322Asn) c.1000G>A (p.Asp334Asn) c.976G>A (p.Asp326Asn) | ClinVar dbSNP |
| 13 | g.108210306T>A | CA484975567 | LIG4 | c.762A>T (p.Ala254=) c.963A>T (p.Ala321=) c.999A>T (p.Ala333=) c.975A>T (p.Ala325=) | |
| 13 | g.108210306T>C | CA484975569 | LIG4 | c.762A>G (p.Ala254=) c.963A>G (p.Ala321=) c.999A>G (p.Ala333=) c.975A>G (p.Ala325=) | gnomAD v4 |
| 13 | g.108210306T>G | CA484975570 | LIG4 | c.762A>C (p.Ala254=) c.963A>C (p.Ala321=) c.999A>C (p.Ala333=) c.975A>C (p.Ala325=) | |
| 13 | g.108210307G>A | CA388619076 | LIG4 | c.761C>T (p.Ala254Val) c.962C>T (p.Ala321Val) c.998C>T (p.Ala333Val) c.974C>T (p.Ala325Val) | gnomAD v4 |
| 13 | g.108210307G>C | CA388619078 | LIG4 | c.761C>G (p.Ala254Gly) c.962C>G (p.Ala321Gly) c.998C>G (p.Ala333Gly) c.974C>G (p.Ala325Gly) | |
| 13 | g.108210307G>T | CA388619081 | LIG4 | c.761C>A (p.Ala254Glu) c.962C>A (p.Ala321Glu) c.998C>A (p.Ala333Glu) c.974C>A (p.Ala325Glu) | |
| 13 | g.108210308C>A | CA388619085 | LIG4 | c.760G>T (p.Ala254Ser) c.961G>T (p.Ala321Ser) c.997G>T (p.Ala333Ser) c.973G>T (p.Ala325Ser) | |
| 13 | g.108210308C= | CA2117794582 | LIG4 | c.760G= (p.Ala254=) c.961G= (p.Ala321=) c.997G= (p.Ala333=) c.973G= (p.Ala325=) | |
| 13 | g.108210308C>G | CA388619087 | LIG4 | c.760G>C (p.Ala254Pro) c.961G>C (p.Ala321Pro) c.997G>C (p.Ala333Pro) c.973G>C (p.Ala325Pro) | |
| 13 | g.108210308C>T | CA7043770 | LIG4 | c.760G>A (p.Ala254Thr) c.961G>A (p.Ala321Thr) c.997G>A (p.Ala333Thr) c.973G>A (p.Ala325Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108210309T>A | CA388619088 | LIG4 | c.759A>T (p.Lys253Asn) c.960A>T (p.Lys320Asn) c.996A>T (p.Lys332Asn) c.972A>T (p.Lys324Asn) | |
| 13 | g.108210309T>C | CA484975573 | LIG4 | c.759A>G (p.Lys253=) c.960A>G (p.Lys320=) c.996A>G (p.Lys332=) c.972A>G (p.Lys324=) | |
| 13 | g.108210309T>G | CA388619089 | LIG4 | c.759A>C (p.Lys253Asn) c.960A>C (p.Lys320Asn) c.996A>C (p.Lys332Asn) c.972A>C (p.Lys324Asn) | |
| 13 | g.108210310T>A | CA388619090 | LIG4 | c.758A>T (p.Lys253Ile) c.959A>T (p.Lys320Ile) c.995A>T (p.Lys332Ile) c.971A>T (p.Lys324Ile) | |
| 13 | g.108210310T>C | CA7043771 | LIG4 | c.758A>G (p.Lys253Arg) c.959A>G (p.Lys320Arg) c.995A>G (p.Lys332Arg) c.971A>G (p.Lys324Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108210310T>G | CA388619091 | LIG4 | c.758A>C (p.Lys253Thr) c.959A>C (p.Lys320Thr) c.995A>C (p.Lys332Thr) c.971A>C (p.Lys324Thr) | |
| 13 | g.108210310T= | CA2117794583 | LIG4 | c.758A= (p.Lys253=) c.959A= (p.Lys320=) c.995A= (p.Lys332=) c.971A= (p.Lys324=) | |
| 13 | g.108210311T>A | CA388619093 | LIG4 | c.757A>T (p.Lys253Ter) c.958A>T (p.Lys320Ter) c.994A>T (p.Lys332Ter) c.970A>T (p.Lys324Ter) | COSMIC |
| 13 | g.108210311T>C | CA388619095 | LIG4 | c.757A>G (p.Lys253Glu) c.958A>G (p.Lys320Glu) c.994A>G (p.Lys332Glu) c.970A>G (p.Lys324Glu) | |
| 13 | g.108210311T>G | CA388619098 | LIG4 | c.757A>C (p.Lys253Gln) c.958A>C (p.Lys320Gln) c.994A>C (p.Lys332Gln) c.970A>C (p.Lys324Gln) | |
| 13 | g.108210312G>A | CA484975578 | LIG4 | c.756C>T (p.Phe252=) c.957C>T (p.Phe319=) c.993C>T (p.Phe331=) c.969C>T (p.Phe323=) | |
| 13 | g.108210312G>C | CA388619099 | LIG4 | c.756C>G (p.Phe252Leu) c.957C>G (p.Phe319Leu) c.993C>G (p.Phe331Leu) c.969C>G (p.Phe323Leu) | |
| 13 | g.108210312G>T | CA388619101 | LIG4 | c.756C>A (p.Phe252Leu) c.957C>A (p.Phe319Leu) c.993C>A (p.Phe331Leu) c.969C>A (p.Phe323Leu) | |
| 13 | g.108210313A>C | CA388619104 | LIG4 | c.755T>G (p.Phe252Cys) c.956T>G (p.Phe319Cys) c.992T>G (p.Phe331Cys) c.968T>G (p.Phe323Cys) | |
| 13 | g.108210313A>G | CA388619106 | LIG4 | c.755T>C (p.Phe252Ser) c.956T>C (p.Phe319Ser) c.992T>C (p.Phe331Ser) c.968T>C (p.Phe323Ser) | |
| 13 | g.108210313A>T | CA388619109 | LIG4 | c.755T>A (p.Phe252Tyr) c.956T>A (p.Phe319Tyr) c.992T>A (p.Phe331Tyr) c.968T>A (p.Phe323Tyr) | |
| 13 | g.108210314A>C | CA388619123 | LIG4 | c.754T>G (p.Phe252Val) c.955T>G (p.Phe319Val) c.991T>G (p.Phe331Val) c.967T>G (p.Phe323Val) | |
| 13 | g.108210314A>G | CA388619118 | LIG4 | c.754T>C (p.Phe252Leu) c.955T>C (p.Phe319Leu) c.991T>C (p.Phe331Leu) c.967T>C (p.Phe323Leu) | |
| 13 | g.108210314A>T | CA388619116 | LIG4 | c.754T>A (p.Phe252Ile) c.955T>A (p.Phe319Ile) c.991T>A (p.Phe331Ile) c.967T>A (p.Phe323Ile) | COSMIC |
| 13 | g.108210315T>A | CA484975583 | LIG4 | c.753A>T (p.Ala251=) c.954A>T (p.Ala318=) c.990A>T (p.Ala330=) c.966A>T (p.Ala322=) | |
| 13 | g.108210315T>C | CA484975581 | LIG4 | c.753A>G (p.Ala251=) c.954A>G (p.Ala318=) c.990A>G (p.Ala330=) c.966A>G (p.Ala322=) | |
| 13 | g.108210315T>G | CA484975582 | LIG4 | c.753A>C (p.Ala251=) c.954A>C (p.Ala318=) c.990A>C (p.Ala330=) c.966A>C (p.Ala322=) | gnomAD v4 |
| 13 | g.108210316G>A | CA388619125 | LIG4 | c.752C>T (p.Ala251Val) c.953C>T (p.Ala318Val) c.989C>T (p.Ala330Val) c.965C>T (p.Ala322Val) | |
| 13 | g.108210316G>C | CA388619127 | LIG4 | c.752C>G (p.Ala251Gly) c.953C>G (p.Ala318Gly) c.989C>G (p.Ala330Gly) c.965C>G (p.Ala322Gly) | |
| 13 | g.108210316G>T | CA388619129 | LIG4 | c.752C>A (p.Ala251Glu) c.953C>A (p.Ala318Glu) c.989C>A (p.Ala330Glu) c.965C>A (p.Ala322Glu) | |
| 13 | g.108210317C>A | CA388619132 | LIG4 | c.751G>T (p.Ala251Ser) c.952G>T (p.Ala318Ser) c.988G>T (p.Ala330Ser) c.964G>T (p.Ala322Ser) | |
| 13 | g.108210317C>G | CA388619134 | LIG4 | c.751G>C (p.Ala251Pro) c.952G>C (p.Ala318Pro) c.988G>C (p.Ala330Pro) c.964G>C (p.Ala322Pro) | gnomAD v4 |
| 13 | g.108210317C>T | CA388619136 | LIG4 | c.751G>A (p.Ala251Thr) c.952G>A (p.Ala318Thr) c.988G>A (p.Ala330Thr) c.964G>A (p.Ala322Thr) | |
| 13 | g.108210318A>C | CA388619137 | LIG4 | c.750T>G (p.Asn250Lys) c.951T>G (p.Asn317Lys) c.987T>G (p.Asn329Lys) c.963T>G (p.Asn321Lys) | |
| 13 | g.108210318A>G | CA484975585 | LIG4 | c.750T>C (p.Asn250=) c.951T>C (p.Asn317=) c.987T>C (p.Asn329=) c.963T>C (p.Asn321=) | |
| 13 | g.108210318A>T | CA388619139 | LIG4 | c.750T>A (p.Asn250Lys) c.951T>A (p.Asn317Lys) c.987T>A (p.Asn329Lys) c.963T>A (p.Asn321Lys) | |
| 13 | g.108210319T>A | CA388619142 | LIG4 | c.749A>T (p.Asn250Ile) c.950A>T (p.Asn317Ile) c.986A>T (p.Asn329Ile) c.962A>T (p.Asn321Ile) | |
| 13 | g.108210319T>C | CA388619144 | LIG4 | c.749A>G (p.Asn250Ser) c.950A>G (p.Asn317Ser) c.986A>G (p.Asn329Ser) c.962A>G (p.Asn321Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108210319T>G | CA388619146 | LIG4 | c.749A>C (p.Asn250Thr) c.950A>C (p.Asn317Thr) c.986A>C (p.Asn329Thr) c.962A>C (p.Asn321Thr) | |
| 13 | g.108210319T= | CA2117794584 | LIG4 | c.749A= (p.Asn250=) c.950A= (p.Asn317=) c.986A= (p.Asn329=) c.962A= (p.Asn321=) | |
| 13 | g.108210320T>A | CA388619151 | LIG4 | c.748A>T (p.Asn250Tyr) c.949A>T (p.Asn317Tyr) c.985A>T (p.Asn329Tyr) c.961A>T (p.Asn321Tyr) | |
| 13 | g.108210320T>C | CA388619152 | LIG4 | c.748A>G (p.Asn250Asp) c.949A>G (p.Asn317Asp) c.985A>G (p.Asn329Asp) c.961A>G (p.Asn321Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108210320T>G | CA388619154 | LIG4 | c.748A>C (p.Asn250His) c.949A>C (p.Asn317His) c.985A>C (p.Asn329His) c.961A>C (p.Asn321His) | |
| 13 | g.108210320T= | CA2117794585 | LIG4 | c.748A= (p.Asn250=) c.949A= (p.Asn317=) c.985A= (p.Asn329=) c.961A= (p.Asn321=) | |
| 13 | g.108210320_108210324delinsTATGA | CA2117794586 | LIG4 | c.744_748delinsTCATA (p.Ile248=) c.945_949delinsTCATA (p.Ile315=) c.981_985delinsTCATA (p.Ile327=) c.957_961delinsTCATA (p.Ile319=) | |
| 13 | g.108210321A= | CA2117794587 | LIG4 | c.747T= (p.His249=) c.948T= (p.His316=) c.984T= (p.His328=) c.960T= (p.His320=) | |
| 13 | g.108210321A>C | CA388619156 | LIG4 | c.747T>G (p.His249Gln) c.948T>G (p.His316Gln) c.984T>G (p.His328Gln) c.960T>G (p.His320Gln) | |
| 13 | g.108210321A>G | CA484975590 | LIG4 | c.747T>C (p.His249=) c.948T>C (p.His316=) c.984T>C (p.His328=) c.960T>C (p.His320=) | gnomAD v4 |
| 13 | g.108210321A>T | CA388619158 | LIG4 | c.747T>A (p.His249Gln) c.948T>A (p.His316Gln) c.984T>A (p.His328Gln) c.960T>A (p.His320Gln) | dbSNP |
| 13 | g.108210328_108210331del | CA612360452 | LIG4 | c.744_747del (p.His249MetfsTer16) c.945_948del (p.His316MetfsTer16) c.981_984del (p.His328MetfsTer16) c.957_960del (p.His320MetfsTer16) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108210322T>A | CA388619162 | LIG4 | c.746A>T (p.His249Leu) c.947A>T (p.His316Leu) c.983A>T (p.His328Leu) c.959A>T (p.His320Leu) | |
| 13 | g.108210322T>C | CA388619166 | LIG4 | c.746A>G (p.His249Arg) c.947A>G (p.His316Arg) c.983A>G (p.His328Arg) c.959A>G (p.His320Arg) | gnomAD v4 |
| 13 | g.108210322T>G | CA388619163 | LIG4 | c.746A>C (p.His249Pro) c.947A>C (p.His316Pro) c.983A>C (p.His328Pro) c.959A>C (p.His320Pro) | |
| 13 | g.108210323del | CA2623644206 | LIG4 | c.745del (p.His249IlefsTer17) c.946del (p.His316IlefsTer17) c.982del (p.His328IlefsTer17) c.958del (p.His320IlefsTer17) | gnomAD v4 |
| 13 | g.108210323G>A | CA388619168 | LIG4 | c.745C>T (p.His249Tyr) c.946C>T (p.His316Tyr) c.982C>T (p.His328Tyr) c.958C>T (p.His320Tyr) | |
| 13 | g.108210323G>C | CA388619174 | LIG4 | c.745C>G (p.His249Asp) c.946C>G (p.His316Asp) c.982C>G (p.His328Asp) c.958C>G (p.His320Asp) | gnomAD v4 |
| 13 | g.108210323G>T | CA388619176 | LIG4 | c.745C>A (p.His249Asn) c.946C>A (p.His316Asn) c.982C>A (p.His328Asn) c.958C>A (p.His320Asn) | |
| 13 | g.108210324A>C | CA388619178 | LIG4 | c.744T>G (p.Ile248Met) c.945T>G (p.Ile315Met) c.981T>G (p.Ile327Met) c.957T>G (p.Ile319Met) | gnomAD v4 |
| 13 | g.108210324A>G | CA484975594 | LIG4 | c.744T>C (p.Ile248=) c.945T>C (p.Ile315=) c.981T>C (p.Ile327=) c.957T>C (p.Ile319=) | |
| 13 | g.108210324A>T | CA484975596 | LIG4 | c.744T>A (p.Ile248=) c.945T>A (p.Ile315=) c.981T>A (p.Ile327=) c.957T>A (p.Ile319=) | |
| 13 | g.108210325A= | CA2117794588 | LIG4 | c.743T= (p.Ile248=) c.944T= (p.Ile315=) c.980T= (p.Ile327=) c.956T= (p.Ile319=) | |
| 13 | g.108210325A>C | CA388619180 | LIG4 | c.743T>G (p.Ile248Ser) c.944T>G (p.Ile315Ser) c.980T>G (p.Ile327Ser) c.956T>G (p.Ile319Ser) | |
| 13 | g.108210325A>G | CA388619182 | LIG4 | c.743T>C (p.Ile248Thr) c.944T>C (p.Ile315Thr) c.980T>C (p.Ile327Thr) c.956T>C (p.Ile319Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108210325A>T | CA388619184 | LIG4 | c.743T>A (p.Ile248Asn) c.944T>A (p.Ile315Asn) c.980T>A (p.Ile327Asn) c.956T>A (p.Ile319Asn) | |
| 13 | g.108210326T>A | CA388619185 | LIG4 | c.742A>T (p.Ile248Phe) c.943A>T (p.Ile315Phe) c.979A>T (p.Ile327Phe) c.955A>T (p.Ile319Phe) | |
| 13 | g.108210326T>C | CA388619188 | LIG4 | c.742A>G (p.Ile248Val) c.943A>G (p.Ile315Val) c.979A>G (p.Ile327Val) c.955A>G (p.Ile319Val) | gnomAD v4 |
| 13 | g.108210326T>G | CA388619190 | LIG4 | c.742A>C (p.Ile248Leu) c.943A>C (p.Ile315Leu) c.979A>C (p.Ile327Leu) c.955A>C (p.Ile319Leu) | |
| 13 | g.108210327G>A | CA484975600 | LIG4 | c.741C>T (p.Phe247=) c.942C>T (p.Phe314=) c.978C>T (p.Phe326=) c.954C>T (p.Phe318=) | |
| 13 | g.108210327G>C | CA388619197 | LIG4 | c.741C>G (p.Phe247Leu) c.942C>G (p.Phe314Leu) c.978C>G (p.Phe326Leu) c.954C>G (p.Phe318Leu) | |
| 13 | g.108210327G>T | CA388619198 | LIG4 | c.741C>A (p.Phe247Leu) c.942C>A (p.Phe314Leu) c.978C>A (p.Phe326Leu) c.954C>A (p.Phe318Leu) | gnomAD v4 |
| 13 | g.108210328A>C | CA388619205 | LIG4 | c.740T>G (p.Phe247Cys) c.941T>G (p.Phe314Cys) c.977T>G (p.Phe326Cys) c.953T>G (p.Phe318Cys) | |
| 13 | g.108210328A>G | CA388619204 | LIG4 | c.740T>C (p.Phe247Ser) c.941T>C (p.Phe314Ser) c.977T>C (p.Phe326Ser) c.953T>C (p.Phe318Ser) | |
| 13 | g.108210328A>T | CA388619200 | LIG4 | c.740T>A (p.Phe247Tyr) c.941T>A (p.Phe314Tyr) c.977T>A (p.Phe326Tyr) c.953T>A (p.Phe318Tyr) | |
| 13 | g.108210329A>C | CA388619215 | LIG4 | c.739T>G (p.Phe247Val) c.940T>G (p.Phe314Val) c.976T>G (p.Phe326Val) c.952T>G (p.Phe318Val) | |
| 13 | g.108210329A>G | CA388619217 | LIG4 | c.739T>C (p.Phe247Leu) c.940T>C (p.Phe314Leu) c.976T>C (p.Phe326Leu) c.952T>C (p.Phe318Leu) | |
| 13 | g.108210329A>T | CA388619220 | LIG4 | c.739T>A (p.Phe247Ile) c.940T>A (p.Phe314Ile) c.976T>A (p.Phe326Ile) c.952T>A (p.Phe318Ile) | |
| 13 | g.108210330T>A | CA484975606 | LIG4 | c.738A>T (p.Pro246=) c.939A>T (p.Pro313=) c.975A>T (p.Pro325=) c.951A>T (p.Pro317=) | |
| 13 | g.108210330T>C | CA484975608 | LIG4 | c.738A>G (p.Pro246=) c.939A>G (p.Pro313=) c.975A>G (p.Pro325=) c.951A>G (p.Pro317=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.108210330T>G | CA484975609 | LIG4 | c.738A>C (p.Pro246=) c.939A>C (p.Pro313=) c.975A>C (p.Pro325=) c.951A>C (p.Pro317=) | |
| 13 | g.108210330T= | CA2117794590 | LIG4 | c.738A= (p.Pro246=) c.939A= (p.Pro313=) c.975A= (p.Pro325=) c.951A= (p.Pro317=) | |
| 13 | g.108210330_108210331delinsTG | CA2117794589 | LIG4 | c.737_738delinsCA (p.Pro246=) c.938_939delinsCA (p.Pro313=) c.974_975delinsCA (p.Pro325=) c.950_951delinsCA (p.Pro317=) | |
| 13 | g.108210331G>A | CA388619224 | LIG4 | c.737C>T (p.Pro246Leu) c.938C>T (p.Pro313Leu) c.974C>T (p.Pro325Leu) c.950C>T (p.Pro317Leu) | ClinVar dbSNP |
| 13 | g.108210331G>C | CA388619225 | LIG4 | c.737C>G (p.Pro246Arg) c.938C>G (p.Pro313Arg) c.974C>G (p.Pro325Arg) c.950C>G (p.Pro317Arg) | |
| 13 | g.108210331G>T | CA388619228 | LIG4 | c.737C>A (p.Pro246Gln) c.938C>A (p.Pro313Gln) c.974C>A (p.Pro325Gln) c.950C>A (p.Pro317Gln) | |
| 13 | g.108210334del | CA612360453 | LIG4 | c.737del (p.Pro246HisfsTer20) c.938del (p.Pro313HisfsTer20) c.974del (p.Pro325HisfsTer20) c.950del (p.Pro317HisfsTer20) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.108210332G>A | CA388619230 | LIG4 | c.736C>T (p.Pro246Ser) c.937C>T (p.Pro313Ser) c.973C>T (p.Pro325Ser) c.949C>T (p.Pro317Ser) | |
| 13 | g.108210332G>C | CA388619232 | LIG4 | c.736C>G (p.Pro246Ala) c.937C>G (p.Pro313Ala) c.973C>G (p.Pro325Ala) c.949C>G (p.Pro317Ala) | gnomAD v4 |
| 13 | g.108210332G>T | CA388619235 | LIG4 | c.736C>A (p.Pro246Thr) c.937C>A (p.Pro313Thr) c.973C>A (p.Pro325Thr) c.949C>A (p.Pro317Thr) | |
| 13 | g.108210333G>A | CA484975616 | LIG4 | c.735C>T (p.Thr245=) c.936C>T (p.Thr312=) c.972C>T (p.Thr324=) c.948C>T (p.Thr316=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 13 | g.108210333G>C | CA484975617 | LIG4 | c.735C>G (p.Thr245=) c.936C>G (p.Thr312=) c.972C>G (p.Thr324=) c.948C>G (p.Thr316=) | gnomAD v4 |
| 13 | g.108210333G= | CA2117794591 | LIG4 | c.735C= (p.Thr245=) c.936C= (p.Thr312=) c.972C= (p.Thr324=) c.948C= (p.Thr316=) | |
| 13 | g.108210333G>T | CA484975618 | LIG4 | c.735C>A (p.Thr245=) c.936C>A (p.Thr312=) c.972C>A (p.Thr324=) c.948C>A (p.Thr316=) | |
| 13 | g.108210334G>A | CA7043772 | LIG4 | c.734C>T (p.Thr245Ile) c.935C>T (p.Thr312Ile) c.971C>T (p.Thr324Ile) c.947C>T (p.Thr316Ile) | dbSNP ExAC gnomAD v2 |
| 13 | g.108210334G>C | CA388619238 | LIG4 | c.734C>G (p.Thr245Ser) c.935C>G (p.Thr312Ser) c.971C>G (p.Thr324Ser) c.947C>G (p.Thr316Ser) | |
| 13 | g.108210334G= | CA2117794592 | LIG4 | c.734C= (p.Thr245=) c.935C= (p.Thr312=) c.971C= (p.Thr324=) c.947C= (p.Thr316=) | |
| 13 | g.108210334G>T | CA7043773 | LIG4 | c.734C>A (p.Thr245Asn) c.935C>A (p.Thr312Asn) c.971C>A (p.Thr324Asn) c.947C>A (p.Thr316Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.108210335T>A | CA388619256 | LIG4 | c.733A>T (p.Thr245Ser) c.934A>T (p.Thr312Ser) c.970A>T (p.Thr324Ser) c.946A>T (p.Thr316Ser) | |
| 13 | g.108210335T>C | CA388619252 | LIG4 | c.733A>G (p.Thr245Ala) c.934A>G (p.Thr312Ala) c.970A>G (p.Thr324Ala) c.946A>G (p.Thr316Ala) | |
| 13 | g.108210335T>G | CA388619243 | LIG4 | c.733A>C (p.Thr245Pro) c.934A>C (p.Thr312Pro) c.970A>C (p.Thr324Pro) c.946A>C (p.Thr316Pro) | |
| 13 | g.108210335T= | CA2117794593 | LIG4 | c.733A= (p.Thr245=) c.934A= (p.Thr312=) c.970A= (p.Thr324=) c.946A= (p.Thr316=) | |
| 13 | g.108210336A= | CA2117794594 | LIG4 | c.732T= (p.Leu244=) c.933T= (p.Leu311=) c.969T= (p.Leu323=) c.945T= (p.Leu315=) | |
| 13 | g.108210336A>C | CA484975622 | LIG4 | c.732T>G (p.Leu244=) c.933T>G (p.Leu311=) c.969T>G (p.Leu323=) c.945T>G (p.Leu315=) | |
| 13 | g.108210336A>G | CA484975626 | LIG4 | c.732T>C (p.Leu244=) c.933T>C (p.Leu311=) c.969T>C (p.Leu323=) c.945T>C (p.Leu315=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.108210336A>T | CA484975624 | LIG4 | c.732T>A (p.Leu244=) c.933T>A (p.Leu311=) c.969T>A (p.Leu323=) c.945T>A (p.Leu315=) | |
| 13 | g.108210336_108210339dup | CA7043774 | LIG4 | c.729_732dup (p.Thr245SerfsTer7) c.930_933dup (p.Thr312SerfsTer7) c.966_969dup (p.Thr324SerfsTer7) c.942_945dup (p.Thr316SerfsTer7) | dbSNP ExAC gnomAD v2 |
| 13 | g.108210337A>C | CA388619258 | LIG4 | c.731T>G (p.Leu244Arg) c.932T>G (p.Leu311Arg) c.968T>G (p.Leu323Arg) c.944T>G (p.Leu315Arg) | |
| 13 | g.108210337A>G | CA388619260 | LIG4 | c.731T>C (p.Leu244Pro) c.932T>C (p.Leu311Pro) c.968T>C (p.Leu323Pro) c.944T>C (p.Leu315Pro) | |
| 13 | g.108210337A>T | CA388619261 | LIG4 | c.731T>A (p.Leu244His) c.932T>A (p.Leu311His) c.968T>A (p.Leu323His) c.944T>A (p.Leu315His) | |
| 13 | g.108210338G>A | CA388619262 | LIG4 | c.730C>T (p.Leu244Phe) c.931C>T (p.Leu311Phe) c.967C>T (p.Leu323Phe) c.943C>T (p.Leu315Phe) | |
| 13 | g.108210338G>C | CA388619263 | LIG4 | c.730C>G (p.Leu244Val) c.931C>G (p.Leu311Val) c.967C>G (p.Leu323Val) c.943C>G (p.Leu315Val) | |
| 13 | g.108210338G>T | CA388619264 | LIG4 | c.730C>A (p.Leu244Ile) c.931C>A (p.Leu311Ile) c.967C>A (p.Leu323Ile) c.943C>A (p.Leu315Ile) | gnomAD v4 |
| 13 | g.108210339A>C | CA484975633 | LIG4 | c.729T>G (p.Ser243=) c.930T>G (p.Ser310=) c.966T>G (p.Ser322=) c.942T>G (p.Ser314=) | |
| 13 | g.108210339A>G | CA484975634 | LIG4 | c.729T>C (p.Ser243=) c.930T>C (p.Ser310=) c.966T>C (p.Ser322=) c.942T>C (p.Ser314=) | |
| 13 | g.108210339A>T | CA484975635 | LIG4 | c.729T>A (p.Ser243=) c.930T>A (p.Ser310=) c.966T>A (p.Ser322=) c.942T>A (p.Ser314=) | |
| 13 | g.108210340G>A | CA388619265 | LIG4 | c.728C>T (p.Ser243Phe) c.929C>T (p.Ser310Phe) c.965C>T (p.Ser322Phe) c.941C>T (p.Ser314Phe) | |
| 13 | g.108210340G>C | CA388619267 | LIG4 | c.728C>G (p.Ser243Cys) c.929C>G (p.Ser310Cys) c.965C>G (p.Ser322Cys) c.941C>G (p.Ser314Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.108210340G= | CA2117794595 | LIG4 | c.728C= (p.Ser243=) c.929C= (p.Ser310=) c.965C= (p.Ser322=) c.941C= (p.Ser314=) | |
| 13 | g.108210340G>T | CA388619268 | LIG4 | c.728C>A (p.Ser243Tyr) c.929C>A (p.Ser310Tyr) c.965C>A (p.Ser322Tyr) c.941C>A (p.Ser314Tyr) | |
| 13 | g.108210341A>C | CA388619270 | LIG4 | c.727T>G (p.Ser243Ala) c.928T>G (p.Ser310Ala) c.964T>G (p.Ser322Ala) c.940T>G (p.Ser314Ala) | |
| 13 | g.108210341A>G | CA388619275 | LIG4 | c.727T>C (p.Ser243Pro) c.928T>C (p.Ser310Pro) c.964T>C (p.Ser322Pro) c.940T>C (p.Ser314Pro) | |
| 13 | g.108210341A>T | CA388619276 | LIG4 | c.727T>A (p.Ser243Thr) c.928T>A (p.Ser310Thr) c.964T>A (p.Ser322Thr) c.940T>A (p.Ser314Thr) | |
| 13 | g.108210342A= | CA2117794596 | LIG4 | c.726T= (p.Gly242=) c.927T= (p.Gly309=) c.963T= (p.Gly321=) c.939T= (p.Gly313=) | |
| 13 | g.108210342A>C | CA484975637 | LIG4 | c.726T>G (p.Gly242=) c.927T>G (p.Gly309=) c.963T>G (p.Gly321=) c.939T>G (p.Gly313=) | |
| 13 | g.108210342A>G | CA484975638 | LIG4 | c.726T>C (p.Gly242=) c.927T>C (p.Gly309=) c.963T>C (p.Gly321=) c.939T>C (p.Gly313=) | |
| 13 | g.108210342A>T | CA484975639 | LIG4 | c.726T>A (p.Gly242=) c.927T>A (p.Gly309=) c.963T>A (p.Gly321=) c.939T>A (p.Gly313=) | dbSNP gnomAD v2 |
| 13 | g.108210343C>A | CA388619280 | LIG4 | c.725G>T (p.Gly242Val) c.926G>T (p.Gly309Val) c.962G>T (p.Gly321Val) c.938G>T (p.Gly313Val) | COSMIC |
| 13 | g.108210343C>G | CA388619277 | LIG4 | c.725G>C (p.Gly242Ala) c.926G>C (p.Gly309Ala) c.962G>C (p.Gly321Ala) c.938G>C (p.Gly313Ala) | |
| 13 | g.108210343C>T | CA388619278 | LIG4 | c.725G>A (p.Gly242Asp) c.926G>A (p.Gly309Asp) c.962G>A (p.Gly321Asp) c.938G>A (p.Gly313Asp) | |
| 13 | g.108210344C>A | CA388619281 | LIG4 | c.724G>T (p.Gly242Cys) c.925G>T (p.Gly309Cys) c.961G>T (p.Gly321Cys) c.937G>T (p.Gly313Cys) | |
| 13 | g.108210344C>G | CA388619283 | LIG4 | c.724G>C (p.Gly242Arg) c.925G>C (p.Gly309Arg) c.961G>C (p.Gly321Arg) c.937G>C (p.Gly313Arg) | |
| 13 | g.108210344C>T | CA388619285 | LIG4 | c.724G>A (p.Gly242Ser) c.925G>A (p.Gly309Ser) c.961G>A (p.Gly321Ser) c.937G>A (p.Gly313Ser) | |
| 13 | g.108210345T>A | CA388619286 | LIG4 | c.723A>T (p.Glu241Asp) c.924A>T (p.Glu308Asp) c.960A>T (p.Glu320Asp) c.936A>T (p.Glu312Asp) | |
| 13 | g.108210345T>C | CA484975642 | LIG4 | c.723A>G (p.Glu241=) c.924A>G (p.Glu308=) c.960A>G (p.Glu320=) c.936A>G (p.Glu312=) | |
| 13 | g.108210345T>G | CA388619287 | LIG4 | c.723A>C (p.Glu241Asp) c.924A>C (p.Glu308Asp) c.960A>C (p.Glu320Asp) c.936A>C (p.Glu312Asp) | |
| 13 | g.108210346T>A | CA388619288 | LIG4 | c.722A>T (p.Glu241Val) c.923A>T (p.Glu308Val) c.959A>T (p.Glu320Val) c.935A>T (p.Glu312Val) | |
| 13 | g.108210346T>C | CA388619289 | LIG4 | c.722A>G (p.Glu241Gly) c.923A>G (p.Glu308Gly) c.959A>G (p.Glu320Gly) c.935A>G (p.Glu312Gly) | |
| 13 | g.108210346T>G | CA388619291 | LIG4 | c.722A>C (p.Glu241Ala) c.923A>C (p.Glu308Ala) c.959A>C (p.Glu320Ala) c.935A>C (p.Glu312Ala) |