Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.45947739A= | CA2366447900 | PCIF1 | c.2099A= (p.Glu700=) c.1040A= c.1055A= (p.Glu352=) | |
20 | g.45947739A>C | CA409231677 | PCIF1 | c.2099A>C (p.Glu700Ala) c.1040A>C c.1055A>C (p.Glu352Ala) | |
20 | g.45947739A>G | CA9884693 | PCIF1 | c.2099A>G (p.Glu700Gly) c.1040A>G c.1055A>G (p.Glu352Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947739A>T | CA409231680 | PCIF1 | c.2099A>T (p.Glu700Val) c.1040A>T c.1055A>T (p.Glu352Val) | |
20 | g.45947740G>A | CA510753546 | PCIF1 | c.2100G>A (p.Glu700=) c.1041G>A c.1056G>A (p.Glu352=) | gnomAD v4 |
20 | g.45947740G>C | CA409231681 | PCIF1 | c.2100G>C (p.Glu700Asp) c.1041G>C c.1056G>C (p.Glu352Asp) | |
20 | g.45947740G>T | CA409231682 | PCIF1 | c.2100G>T (p.Glu700Asp) c.1041G>T c.1056G>T (p.Glu352Asp) | gnomAD v4 |
20 | g.45947741C>A | CA409231683 | PCIF1 | c.2101C>A (p.Pro701Thr) c.1042C>A c.1057C>A (p.Pro353Thr) | gnomAD v4 |
20 | g.45947741C>G | CA409231685 | PCIF1 | c.2101C>G (p.Pro701Ala) c.1042C>G c.1057C>G (p.Pro353Ala) | |
20 | g.45947741C>T | CA409231686 | PCIF1 | c.2101C>T (p.Pro701Ser) c.1042C>T c.1057C>T (p.Pro353Ser) | gnomAD v4 |
20 | g.45947742C>A | CA409231688 | PCIF1 | c.2102C>A (p.Pro701His) c.1043C>A c.1058C>A (p.Pro353His) | |
20 | g.45947742C= | CA2366447901 | PCIF1 | c.2102C= (p.Pro701=) c.1043C= c.1058C= (p.Pro353=) | |
20 | g.45947742C>G | CA409231691 | PCIF1 | c.2102C>G (p.Pro701Arg) c.1043C>G c.1058C>G (p.Pro353Arg) | gnomAD v4 |
20 | g.45947742C>T | CA409231693 | PCIF1 | c.2102C>T (p.Pro701Leu) c.1043C>T c.1058C>T (p.Pro353Leu) | dbSNP gnomAD v2 |
20 | g.45947743T>A | CA510753550 | PCIF1 | c.2103T>A (p.Pro701=) c.1044T>A c.1059T>A (p.Pro353=) | |
20 | g.45947743T>C | CA510753551 | PCIF1 | c.2103T>C (p.Pro701=) c.1044T>C c.1059T>C (p.Pro353=) | gnomAD v4 |
20 | g.45947743T>G | CA510753553 | PCIF1 | c.2103T>G (p.Pro701=) c.1044T>G c.1059T>G (p.Pro353=) | |
20 | g.45947744C>A | CA409231698 | PCIF1 | c.2104C>A (p.His702Asn) c.1045C>A c.1060C>A (p.His354Asn) | |
20 | g.45947744C>G | CA409231694 | PCIF1 | c.2104C>G (p.His702Asp) c.1045C>G c.1060C>G (p.His354Asp) | |
20 | g.45947744C>T | CA409231696 | PCIF1 | c.2104C>T (p.His702Tyr) c.1045C>T c.1060C>T (p.His354Tyr) | |
20 | g.45947745A= | CA2366447902 | PCIF1 | c.2105A= (p.His702=) c.1046A= c.1061A= (p.His354=) | |
20 | g.45947745A>C | CA409231701 | PCIF1 | c.2105A>C (p.His702Pro) c.1046A>C c.1061A>C (p.His354Pro) | |
20 | g.45947745A>G | CA409231703 | PCIF1 | c.2105A>G (p.His702Arg) c.1046A>G c.1061A>G (p.His354Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947745A>T | CA409231705 | PCIF1 | c.2105A>T (p.His702Leu) c.1046A>T c.1061A>T (p.His354Leu) | |
20 | g.45947746C>A | CA409231707 | PCIF1 | c.2106C>A (p.His702Gln) c.1047C>A c.1062C>A (p.His354Gln) | |
20 | g.45947746C= | CA2366447903 | PCIF1 | c.2106C= (p.His702=) c.1047C= c.1062C= (p.His354=) | |
20 | g.45947746C>G | CA409231710 | PCIF1 | c.2106C>G (p.His702Gln) c.1047C>G c.1062C>G (p.His354Gln) | |
20 | g.45947746C>T | CA9884694 | PCIF1 | c.2106C>T (p.His702=) c.1047C>T c.1062C>T (p.His354=) | dbSNP ExAC gnomAD v4 |
20 | g.45947749del | CA2653107597 | PCIF1 | c.2109del (p.Thr704LeufsTer14) c.1050del c.1065del (p.Thr356LeufsTer14) | gnomAD v4 |
20 | g.45947747C>A | CA409231712 | PCIF1 | c.2107C>A (p.Pro703Thr) c.1048C>A c.1063C>A (p.Pro355Thr) | gnomAD v4 |
20 | g.45947747C= | CA2366447904 | PCIF1 | c.2107C= (p.Pro703=) c.1048C= c.1063C= (p.Pro355=) | |
20 | g.45947747C>G | CA409231713 | PCIF1 | c.2107C>G (p.Pro703Ala) c.1048C>G c.1063C>G (p.Pro355Ala) | gnomAD v4 |
20 | g.45947747C>T | CA409231714 | PCIF1 | c.2107C>T (p.Pro703Ser) c.1048C>T c.1063C>T (p.Pro355Ser) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947748C>A | CA409231715 | PCIF1 | c.2108C>A (p.Pro703His) c.1049C>A c.1064C>A (p.Pro355His) | gnomAD v4 |
20 | g.45947748C= | CA2366447905 | PCIF1 | c.2108C= (p.Pro703=) c.1049C= c.1064C= (p.Pro355=) | |
20 | g.45947748C>G | CA409231717 | PCIF1 | c.2108C>G (p.Pro703Arg) c.1049C>G c.1064C>G (p.Pro355Arg) | |
20 | g.45947748C>T | CA315641285 | PCIF1 | c.2108C>T (p.Pro703Leu) c.1049C>T c.1064C>T (p.Pro355Leu) | dbSNP |
20 | g.45947749C>A | CA510753559 | PCIF1 | c.2109C>A (p.Pro703=) c.1050C>A c.1065C>A (p.Pro355=) | gnomAD v4 |
20 | g.45947749C= | CA2366447906 | PCIF1 | c.2109C= (p.Pro703=) c.1050C= c.1065C= (p.Pro355=) | |
20 | g.45947749C>G | CA510753561 | PCIF1 | c.2109C>G (p.Pro703=) c.1050C>G c.1065C>G (p.Pro355=) | |
20 | g.45947749C>T | CA9884695 | PCIF1 | c.2109C>T (p.Pro703=) c.1050C>T c.1065C>T (p.Pro355=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947750A>C | CA409231726 | PCIF1 | c.2110A>C (p.Thr704Pro) c.1051A>C c.1066A>C (p.Thr356Pro) | |
20 | g.45947750A>G | CA409231723 | PCIF1 | c.2110A>G (p.Thr704Ala) c.1051A>G c.1066A>G (p.Thr356Ala) | |
20 | g.45947750A>T | CA409231724 | PCIF1 | c.2110A>T (p.Thr704Ser) c.1051A>T c.1066A>T (p.Thr356Ser) | |
20 | g.45947751C>A | CA409231732 | PCIF1 | c.2111C>A (p.Thr704Asn) c.1052C>A c.1067C>A (p.Thr356Asn) | |
20 | g.45947751C= | CA2366447907 | PCIF1 | c.2111C= (p.Thr704=) c.1052C= c.1067C= (p.Thr356=) | |
20 | g.45947751C>G | CA409231735 | PCIF1 | c.2111C>G (p.Thr704Ser) c.1052C>G c.1067C>G (p.Thr356Ser) | |
20 | g.45947751C>T | CA409231741 | PCIF1 | c.2111C>T (p.Thr704Ile) c.1052C>T c.1067C>T (p.Thr356Ile) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947752T>A | CA510753562 | PCIF1 | c.2112T>A (p.Thr704=) c.1053T>A c.1068T>A (p.Thr356=) | |
20 | g.45947752T>C | CA510753563 | PCIF1 | c.2112T>C (p.Thr704=) c.1053T>C c.1068T>C (p.Thr356=) | |
20 | g.45947752T>G | CA510753564 | PCIF1 | c.2112T>G (p.Thr704=) c.1053T>G c.1068T>G (p.Thr356=) | |
20 | g.45947753T>A | CA409231742 | PCIF1 | c.2113T>A (p.Ter705Lys) c.1054T>A c.1069T>A (p.Ter357Lys) | |
20 | g.45947753T>C | CA409231744 | PCIF1 | c.2113T>C (p.Ter705Gln) c.1054T>C c.1069T>C (p.Ter357Gln) | |
20 | g.45947753T>G | CA409231746 | PCIF1 | c.2113T>G (p.Ter705Glu) c.1054T>G c.1069T>G (p.Ter357Glu) | |
20 | g.45947754A>C | CA409231749 | PCIF1 | c.2114A>C (p.Ter705Ser) c.1055A>C c.1070A>C (p.Ter357Ser) | |
20 | g.45947754A>G | CA510753566 | PCIF1 | c.2114A>G (p.Ter705=) c.1055A>G c.1070A>G (p.Ter357=) | gnomAD v4 |
20 | g.45947754A>T | CA409231754 | PCIF1 | c.2114A>T (p.Ter705Leu) c.1055A>T c.1070A>T (p.Ter357Leu) | |
20 | g.45947755A>C | CA409231757 | PCIF1 | c.2115A>C (p.Ter705Tyr) c.1056A>C c.1071A>C (p.Ter357Tyr) | |
20 | g.45947755A>G | CA510753567 | PCIF1 | c.2115A>G (p.Ter705=) c.1056A>G c.1071A>G (p.Ter357=) | |
20 | g.45947755A>T | CA409231758 | PCIF1 | c.2115A>T (p.Ter705Tyr) c.1056A>T c.1071A>T (p.Ter357Tyr) | |
20 | g.45947756C>A | CA2838782816 | PCIF1 | c.*1C>A (n.*1C>A) c.1057C>A | |
20 | g.45947756C= | CA2366447908 | PCIF1 | c.*1C= (n.*1C=) c.1057C= | |
20 | g.45947756C>G | CA636176166 | PCIF1 | c.*1C>G (n.*1C>G) c.1057C>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947756C>T | CA636176167 | PCIF1 | c.*1C>T (n.*1C>T) c.1057C>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947757A= | CA2366447909 | PCIF1 | c.*2A= (n.*2A=) c.1058A= | |
20 | g.45947757A>G | CA636176168 | PCIF1 | c.*2A>G (n.*2A>G) c.1058A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947758T>C | CA1017930134 | PCIF1 | c.*3T>C (n.*3T>C) c.1059T>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947758T= | CA2366447910 | PCIF1 | c.*3T= (n.*3T=) c.1059T= | |
20 | g.45947759A= | CA2366447911 | PCIF1 | c.*4A= (n.*4A=) c.1060A= | |
20 | g.45947759A>G | CA636176169 | PCIF1 | c.*4A>G (n.*4A>G) c.1060A>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947760T>C | CA9884696 | PCIF1 | c.*5T>C (n.*5T>C) c.1061T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947760T= | CA2366447912 | PCIF1 | c.*5T= (n.*5T=) c.1061T= | |
20 | g.45947761C>A | CA2577412975 | PCIF1 | c.*6C>A (n.*6C>A) c.1062C>A | gnomAD v4 |
20 | g.45947761C= | CA2366447913 | PCIF1 | c.*6C= (n.*6C=) c.1062C= | |
20 | g.45947761C>T | CA9884697 | PCIF1 | c.*6C>T (n.*6C>T) c.1062C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947762C>A | CA2653107624 | PCIF1 | c.*7C>A (n.*7C>A) c.1063C>A | gnomAD v4 |
20 | g.45947762C= | CA2366447914 | PCIF1 | c.*7C= (n.*7C=) c.1063C= | |
20 | g.45947762C>G | CA2736847882 | PCIF1 | c.*7C>G (n.*7C>G) c.1063C>G | dbSNP |
20 | g.45947762C>T | CA744845196 | PCIF1 | c.*7C>T (n.*7C>T) c.1063C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947763T>A | CA636176170 | PCIF1 | c.*8T>A (n.*8T>A) c.1064T>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947763T>C | CA2653107627 | PCIF1 | c.*8T>C (n.*8T>C) c.1064T>C | gnomAD v4 |
20 | g.45947763T= | CA2366447915 | PCIF1 | c.*8T= (n.*8T=) c.1064T= | |
20 | g.45947764G>T | CA2653107628 | PCIF1 | c.*9G>T (n.*9G>T) c.1065G>T | gnomAD v4 |
20 | g.45947765C>A | CA2653107629 | PCIF1 | c.*10C>A (n.*10C>A) c.1066C>A | gnomAD v4 |
20 | g.45947765C= | CA2366447916 | PCIF1 | c.*10C= (n.*10C=) c.1066C= | |
20 | g.45947765C>T | CA9884698 | PCIF1 | c.*10C>T (n.*10C>T) c.1066C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947766G>A | CA9884699 | PCIF1 | c.*11G>A (n.*11G>A) c.1067G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947766G>C | CA1017930140 | PCIF1 | c.*11G>C (n.*11G>C) c.1067G>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947766G= | CA2366447917 | PCIF1 | c.*11G= (n.*11G=) c.1067G= | |
20 | g.45947766G>T | CA2653107633 | PCIF1 | c.*11G>T (n.*11G>T) c.1067G>T | gnomAD v4 |
20 | g.45947769del | CA2653107631 | PCIF1 | c.*14del (n.*14del) c.1070del | gnomAD v4 |
20 | g.45947767G>A | CA636176171 | PCIF1 | c.*12G>A (n.*12G>A) c.1068G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947767G= | CA2366447918 | PCIF1 | c.*12G= (n.*12G=) c.1068G= | |
20 | g.45947767G>T | CA2577412980 | PCIF1 | c.*12G>T (n.*12G>T) c.1068G>T | gnomAD v4 |
20 | g.45947767_45947770delinsGGGA | CA2366447919 | PCIF1 | c.*12_*15delinsGGGA (n.*12_*15delinsGGGA) c.1068_1071delinsGGGA | |
20 | g.45947768G>A | CA2366447921 | PCIF1 | c.*13G>A (n.*13G>A) c.1069G>A | dbSNP |
20 | g.45947768G= | CA2366447920 | PCIF1 | c.*13G= (n.*13G=) c.1069G= | |
20 | g.45947768G>T | CA2653107637 | PCIF1 | c.*13G>T (n.*13G>T) c.1069G>T | gnomAD v4 |
20 | g.45947775_45947777dup | CA2653107636 | PCIF1 | c.*20_*22dup (n.*20_*22dup) c.1076_1078dup | gnomAD v4 |
20 | g.45947775_45947777del | CA9884700 | PCIF1 | c.*20_*22del (n.*20_*22del) c.1076_1078del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947769G>A | CA636176172 | PCIF1 | c.*14G>A (n.*14G>A) c.1070G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947769G= | CA2366447922 | PCIF1 | c.*14G= (n.*14G=) c.1070G= | |
20 | g.45947769G>T | CA2653107639 | PCIF1 | c.*14G>T (n.*14G>T) c.1070G>T | gnomAD v4 |
20 | g.45947770A= | CA2366447923 | PCIF1 | c.*15A= (n.*15A=) c.1071A= | |
20 | g.45947770A>C | CA2839648360 | PCIF1 | c.*15A>C (n.*15A>C) c.1071A>C | |
20 | g.45947770A>G | CA636176173 | PCIF1 | c.*15A>G (n.*15A>G) c.1071A>G | dbSNP gnomAD v2 |
20 | g.45947770A>T | CA2842603140 | PCIF1 | c.*15A>T (n.*15A>T) c.1071A>T | |
20 | g.45947771G>A | CA315641310 | PCIF1 | c.*16G>A (n.*16G>A) c.1072G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947771G>C | CA2653107641 | PCIF1 | c.*16G>C (n.*16G>C) c.1072G>C | gnomAD v4 |
20 | g.45947771G= | CA2366447924 | PCIF1 | c.*16G= (n.*16G=) c.1072G= | |
20 | g.45947771G>T | CA2653107642 | PCIF1 | c.*16G>T (n.*16G>T) c.1072G>T | gnomAD v4 |
20 | g.45947772G>A | CA2577412982 | PCIF1 | c.*17G>A (n.*17G>A) c.1073G>A | |
20 | g.45947772G>C | CA2577412983 | PCIF1 | c.*17G>C (n.*17G>C) c.1073G>C | |
20 | g.45947772G>T | CA2653107643 | PCIF1 | c.*17G>T (n.*17G>T) c.1073G>T | gnomAD v4 |
20 | g.45947773A>T | CA2842603141 | PCIF1 | c.*18A>T (n.*18A>T) c.1074A>T | |
20 | g.45947774G>T | CA2842603142 | PCIF1 | c.*19G>T (n.*19G>T) c.1075G>T | |
20 | g.45947775G>A | CA636176174 | PCIF1 | c.*20G>A (n.*20G>A) c.1076G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947775G>C | CA9884701 | PCIF1 | c.*20G>C (n.*20G>C) c.1076G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947775G= | CA2366447925 | PCIF1 | c.*20G= (n.*20G=) c.1076G= | |
20 | g.45947776A= | CA2366447926 | PCIF1 | c.*21A= (n.*21A=) c.1077A= | |
20 | g.45947776A>C | CA2366447927 | PCIF1 | c.*21A>C (n.*21A>C) c.1077A>C | dbSNP gnomAD v4 |
20 | g.45947777G>A | CA9884703 | PCIF1 | c.*22G>A (n.*22G>A) c.1078G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947777G= | CA2366447928 | PCIF1 | c.*22G= (n.*22G=) c.1078G= | |
20 | g.45947777G>T | CA9884702 | PCIF1 | c.*22G>T (n.*22G>T) c.1078G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947777_45947778delinsGC | CA2366447929 | PCIF1 | c.*22_*23delinsGC (n.*22_*23delinsGC) c.1078_1079delinsGC | |
20 | g.45947778C>A | CA2366447932 | PCIF1 | c.*23C>A (n.*23C>A) c.1079C>A | dbSNP |
20 | g.45947778C= | CA2366447931 | PCIF1 | c.*23C= (n.*23C=) c.1079C= | |
20 | g.45947778C>T | CA2577412986 | PCIF1 | c.*23C>T (n.*23C>T) c.1079C>T | gnomAD v4 |
20 | g.45947781del | CA2366447930 | PCIF1 | c.*26del (n.*26del) c.1082del | dbSNP gnomAD v4 |
20 | g.45947779C= | CA2366447933 | PCIF1 | c.*24C= (n.*24C=) c.1080C= | |
20 | g.45947779C>T | CA9884704 | PCIF1 | c.*24C>T (n.*24C>T) c.1080C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947780C>A | CA2577412987 | PCIF1 | c.*25C>A (n.*25C>A) c.1081C>A | |
20 | g.45947780C= | CA2366447934 | PCIF1 | c.*25C= (n.*25C=) c.1081C= | |
20 | g.45947780C>T | CA636176175 | PCIF1 | c.*25C>T (n.*25C>T) c.1081C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947781C>A | CA2838782833 | PCIF1 | c.*26C>A (n.*26C>A) c.1082C>A | |
20 | g.45947781C= | CA2366447935 | PCIF1 | c.*26C= (n.*26C=) c.1082C= | |
20 | g.45947781C>G | CA744845224 | PCIF1 | c.*26C>G (n.*26C>G) c.1082C>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947781C>T | CA744845223 | PCIF1 | c.*26C>T (n.*26C>T) c.1082C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947781_45947782delinsCA | CA2366447936 | PCIF1 | c.*26_*27delinsCA (n.*26_*27delinsCA) c.1082_1083delinsCA | |
20 | g.45947782del | CA2366447937 | PCIF1 | c.*27del (n.*27del) c.1083del | dbSNP |
20 | g.45947782A>G | CA2842603143 | PCIF1 | c.*27A>G (n.*27A>G) c.1083A>G | |
20 | g.45947782A>T | CA2653107644 | PCIF1 | c.*27A>T (n.*27A>T) c.1083A>T | gnomAD v4 |
20 | g.45947782_45947783delinsAG | CA2366447938 | PCIF1 | c.*27_*28delinsAG (n.*27_*28delinsAG) c.1083_1084delinsAG | |
20 | g.45947783G>T | CA2653107645 | PCIF1 | c.*28G>T (n.*28G>T) c.1084G>T | gnomAD v4 |
20 | g.45947786del | CA2366447939 | PCIF1 | c.*31del (n.*31del) c.1087del | dbSNP |
20 | g.45947784G>T | CA2653107646 | PCIF1 | c.*29G>T (n.*29G>T) c.1085G>T | gnomAD v4 |
20 | g.45947785G>A | CA9884705 | PCIF1 | c.*30G>A (n.*30G>A) c.1086G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947785G= | CA2366447940 | PCIF1 | c.*30G= (n.*30G=) c.1086G= | |
20 | g.45947785G>T | CA2653107647 | PCIF1 | c.*30G>T (n.*30G>T) c.1086G>T | gnomAD v4 |
20 | g.45947786G>A | CA2577412988 | PCIF1 | c.*31G>A (n.*31G>A) c.1087G>A | gnomAD v4 |
20 | g.45947786G>C | CA2366447942 | PCIF1 | c.*31G>C (n.*31G>C) c.1087G>C | dbSNP |
20 | g.45947786G= | CA2366447941 | PCIF1 | c.*31G= (n.*31G=) c.1087G= | |
20 | g.45947786G>T | CA9884706 | PCIF1 | c.*31G>T (n.*31G>T) c.1087G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947787T>C | CA1017930150 | PCIF1 | c.*32T>C (n.*32T>C) c.1088T>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947787T= | CA2366447943 | PCIF1 | c.*32T= (n.*32T=) c.1088T= | |
20 | g.45947788G>A | CA9884707 | PCIF1 | c.*33G>A (n.*33G>A) c.1089G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947788G= | CA2366447944 | PCIF1 | c.*33G= (n.*33G=) c.1089G= | |
20 | g.45947788G>T | CA2839648361 | PCIF1 | c.*33G>T (n.*33G>T) c.1089G>T | |
20 | g.45947789C>T | CA2577412989 | PCIF1 | c.*34C>T (n.*34C>T) c.1090C>T | gnomAD v4 |
20 | g.45947790T>C | CA2653107648 | PCIF1 | c.*35T>C (n.*35T>C) c.1091T>C | gnomAD v4 |
20 | g.45947791A= | CA2366447945 | PCIF1 | c.*36A= (n.*36A=) c.1092A= | |
20 | g.45947791A>G | CA2366447946 | PCIF1 | c.*36A>G (n.*36A>G) c.1092A>G | dbSNP |
20 | g.45947792G>A | CA2653107649 | PCIF1 | c.*37G>A (n.*37G>A) c.1093G>A | gnomAD v4 |
20 | g.45947792G= | CA2366447947 | PCIF1 | c.*37G= (n.*37G=) c.1093G= | |
20 | g.45947792G>T | CA9884708 | PCIF1 | c.*37G>T (n.*37G>T) c.1093G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.45947793T>C | CA2842603144 | PCIF1 | c.*38T>C (n.*38T>C) c.1094T>C | |
20 | g.45947794C>A | CA2842603145 | PCIF1 | c.*39C>A (n.*39C>A) c.1095C>A | |
20 | g.45947794C= | CA2366447949 | PCIF1 | c.*39C= (n.*39C=) c.1095C= | |
20 | g.45947794C>T | CA2366447948 | PCIF1 | c.*39C>T (n.*39C>T) c.1095C>T | dbSNP |
20 | g.45947795T>C | CA2816513972 | PCIF1 | c.*40T>C (n.*40T>C) c.1096T>C | |
20 | g.45947795_45947796del | CA2653107650 | PCIF1 | c.*40_*41del (n.*40_*41del) c.1096_1097del | gnomAD v4 |
20 | g.45947796G>A | CA1017930151 | PCIF1 | c.*41G>A (n.*41G>A) c.1097G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947796G>C | CA2653107651 | PCIF1 | c.*41G>C (n.*41G>C) c.1097G>C | gnomAD v4 |
20 | g.45947796G= | CA2366447950 | PCIF1 | c.*41G= (n.*41G=) c.1097G= | |
20 | g.45947796G>T | CA2653107652 | PCIF1 | c.*41G>T (n.*41G>T) c.1097G>T | gnomAD v4 |
20 | g.45947797G>A | CA2653107653 | PCIF1 | c.*42G>A (n.*42G>A) c.1098G>A | gnomAD v4 |
20 | g.45947797G>C | CA657646555 | PCIF1 | c.*42G>C (n.*42G>C) c.1098G>C | COSMIC |
20 | g.45947797G>T | CA2653107654 | PCIF1 | c.*42G>T (n.*42G>T) c.1098G>T | gnomAD v4 |
20 | g.45947799C>A | CA2653107655 | PCIF1 | c.*44C>A (n.*44C>A) c.1100C>A | gnomAD v4 |
20 | g.45947799C= | CA2366447951 | PCIF1 | c.*44C= (n.*44C=) c.1100C= | |
20 | g.45947799C>G | CA2842603146 | PCIF1 | c.*44C>G (n.*44C>G) c.1100C>G | |
20 | g.45947799C>T | CA315641353 | PCIF1 | c.*44C>T (n.*44C>T) c.1100C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947800T>A | CA315641354 | PCIF1 | c.*45T>A (n.*45T>A) c.1101T>A | dbSNP |
20 | g.45947800T= | CA2366447952 | PCIF1 | c.*45T= (n.*45T=) c.1101T= | |
20 | g.45947801G>A | CA2653107657 | PCIF1 | c.*46G>A (n.*46G>A) c.1102G>A | gnomAD v4 |
20 | g.45947801G>C | CA2366447954 | PCIF1 | c.*46G>C (n.*46G>C) c.1102G>C | dbSNP |
20 | g.45947801G= | CA2366447953 | PCIF1 | c.*46G= (n.*46G=) c.1102G= | |
20 | g.45947801G>T | CA2653107658 | PCIF1 | c.*46G>T (n.*46G>T) c.1102G>T | gnomAD v4 |
20 | g.45947802C= | CA2366447955 | PCIF1 | c.*47C= (n.*47C=) c.1103C= | |
20 | g.45947803T>C | CA2653107659 | PCIF1 | c.*48T>C (n.*48T>C) c.1104T>C | gnomAD v4 |
20 | g.45947803dup | CA2366447956 | PCIF1 | c.*48dup (n.*48dup) c.1104dup | dbSNP |
20 | g.45947804G>A | CA2653107661 | PCIF1 | c.*49G>A (n.*49G>A) c.1105G>A | gnomAD v4 |
20 | g.45947804G>T | CA2653107662 | PCIF1 | c.*49G>T (n.*49G>T) c.1105G>T | gnomAD v4 |
20 | g.45947806del | CA2653107660 | PCIF1 | c.*51del (n.*51del) c.1107del | gnomAD v4 |
20 | g.45947805G>A | CA636176176 | PCIF1 | c.*50G>A (n.*50G>A) c.1106G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947805G>C | CA315641356 | PCIF1 | c.*50G>C (n.*50G>C) c.1106G>C | dbSNP |
20 | g.45947805G= | CA2366447957 | PCIF1 | c.*50G= (n.*50G=) c.1106G= | |
20 | g.45947805G>T | CA2653107663 | PCIF1 | c.*50G>T (n.*50G>T) c.1106G>T | gnomAD v4 |
20 | g.45947806G>A | CA636176177 | PCIF1 | c.*51G>A (n.*51G>A) c.1107G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45947806G= | CA2366447958 | PCIF1 | c.*51G= (n.*51G=) c.1107G= | |
20 | g.45947806G>T | CA2653107664 | PCIF1 | c.*51G>T (n.*51G>T) c.1107G>T | gnomAD v4 |
20 | g.45947808C= | CA2366447960 | PCIF1 | c.*53C= (n.*53C=) c.1109C= | |
20 | g.45947808C>T | CA1017930152 | PCIF1 | c.*53C>T (n.*53C>T) c.1109C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947808_45947828delinsCTCGGGCCCCTGGGGCCTCAG | CA2366447959 | PCIF1 | c.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG (n.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG) c.1109_1129delinsCTCGGGCCCCTGGGGCCTCAG | |
20 | g.45947809T>C | CA2577412991 | PCIF1 | c.*54T>C (n.*54T>C) c.1110T>C | |
20 | g.45947809_45947828del | CA315641360 | PCIF1 | c.*54_*73del (n.*54_*73del) c.1110_1129del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947810C= | CA2366447961 | PCIF1 | c.*55C= (n.*55C=) c.1111C= | |
20 | g.45947810C>T | CA315641365 | PCIF1 | c.*55C>T (n.*55C>T) c.1111C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947811G>A | CA315641369 | PCIF1 | c.*56G>A (n.*56G>A) c.1112G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947811G= | CA2366447962 | PCIF1 | c.*56G= (n.*56G=) c.1112G= | |
20 | g.45947811G>T | CA2653107665 | PCIF1 | c.*56G>T (n.*56G>T) c.1112G>T | gnomAD v4 |
20 | g.45947813G>A | CA2653107666 | PCIF1 | c.*58G>A (n.*58G>A) c.1114G>A | gnomAD v4 |
20 | g.45947813G>T | CA2653107667 | PCIF1 | c.*58G>T (n.*58G>T) c.1114G>T | gnomAD v4 |
20 | g.45947814C>A | CA2653107668 | PCIF1 | c.*59C>A (n.*59C>A) c.1115C>A | gnomAD v4 |
20 | g.45947814C>T | CA2653107669 | PCIF1 | c.*59C>T (n.*59C>T) c.1115C>T | gnomAD v4 |
20 | g.45947816C>A | CA2653107670 | PCIF1 | c.*61C>A (n.*61C>A) c.1117C>A | gnomAD v4 |
20 | g.45947816C>T | CA2653107671 | PCIF1 | c.*61C>T (n.*61C>T) c.1117C>T | gnomAD v4 |
20 | g.45947817C>A | CA2653107672 | PCIF1 | c.*62C>A (n.*62C>A) c.1118C>A | gnomAD v4 |
20 | g.45947817C= | CA2366447963 | PCIF1 | c.*62C= (n.*62C=) c.1118C= | |
20 | g.45947817C>T | CA1017930159 | PCIF1 | c.*62C>T (n.*62C>T) c.1118C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947818T>C | CA2653107673 | PCIF1 | c.*63T>C (n.*63T>C) c.1119T>C | gnomAD v4 |
20 | g.45947819G>A | CA315641379 | PCIF1 | c.*64G>A (n.*64G>A) c.1120G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947819G= | CA2366447964 | PCIF1 | c.*64G= (n.*64G=) c.1120G= | |
20 | g.45947819G>T | CA2653107674 | PCIF1 | c.*64G>T (n.*64G>T) c.1120G>T | gnomAD v4 |
20 | g.45947820G>T | CA2653107675 | PCIF1 | c.*65G>T (n.*65G>T) c.1121G>T | gnomAD v4 |
20 | g.45947821G= | CA2366447965 | PCIF1 | c.*66G= (n.*66G=) c.1122G= | |
20 | g.45947821G>T | CA2366447966 | PCIF1 | c.*66G>T (n.*66G>T) c.1122G>T | dbSNP gnomAD v4 |
20 | g.45947822G>C | CA1017930161 | PCIF1 | c.*67G>C (n.*67G>C) c.1123G>C | gnomAD v3 gnomAD v4 |
20 | g.45947823C>A | CA2536701280 | PCIF1 | c.*68C>A (n.*68C>A) c.1124C>A | |
20 | g.45947823C= | CA2366447967 | PCIF1 | c.*68C= (n.*68C=) c.1124C= | |
20 | g.45947823C>T | CA636176178 | PCIF1 | c.*68C>T (n.*68C>T) c.1124C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947824C= | CA2366447968 | PCIF1 | c.*69C= (n.*69C=) c.1125C= | |
20 | g.45947824C>G | CA315641384 | PCIF1 | c.*69C>G (n.*69C>G) c.1125C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947824C>T | CA2366447969 | PCIF1 | c.*69C>T (n.*69C>T) c.1125C>T | dbSNP gnomAD v4 |
20 | g.45947825T>C | CA2736988073 | PCIF1 | c.*70T>C (n.*70T>C) c.1126T>C | dbSNP |
20 | g.45947825T>G | CA2653107676 | PCIF1 | c.*70T>G (n.*70T>G) c.1126T>G | gnomAD v4 |
20 | g.45947826C= | CA2366447970 | PCIF1 | c.*71C= (n.*71C=) c.1127C= | |
20 | g.45947826C>T | CA1017930165 | PCIF1 | c.*71C>T (n.*71C>T) c.1127C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947827A= | CA2366447971 | PCIF1 | c.*72A= (n.*72A=) c.1128A= | |
20 | g.45947827A>G | CA636176179 | PCIF1 | c.*72A>G (n.*72A>G) c.1128A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947827A>T | CA744845237 | PCIF1 | c.*72A>T (n.*72A>T) c.1128A>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947827dup | CA2577412994 | PCIF1 | c.*72dup (n.*72dup) c.1128dup | gnomAD v4 |
20 | g.45947828G>T | CA2816513975 | PCIF1 | c.*73G>T (n.*73G>T) c.1129G>T | |
20 | g.45947829A>G | CA2653107677 | PCIF1 | c.*74A>G (n.*74A>G) c.1130A>G | gnomAD v4 |
20 | g.45947830G>T | CA2653107678 | PCIF1 | c.*75G>T (n.*75G>T) c.1131G>T | gnomAD v4 |
20 | g.45947832del | CA2577412996 | PCIF1 | c.*77del (n.*77del) c.1133del | gnomAD v4 |
20 | g.45947832G>A | CA2366447973 | PCIF1 | c.*77G>A (n.*77G>A) c.1133G>A | dbSNP |
20 | g.45947832G= | CA2366447972 | PCIF1 | c.*77G= (n.*77G=) c.1133G= | |
20 | g.45947833A= | CA2366447974 | PCIF1 | c.*78A= (n.*78A=) c.1134A= | |
20 | g.45947833A>C | CA315641399 | PCIF1 | c.*78A>C (n.*78A>C) c.1134A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947833A>G | CA1017930181 | PCIF1 | c.*78A>G (n.*78A>G) c.1134A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947833A>T | CA315641404 | PCIF1 | c.*78A>T (n.*78A>T) c.1134A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947834C>A | CA2653107679 | PCIF1 | c.*79C>A (n.*79C>A) c.1135C>A | gnomAD v4 |
20 | g.45947834C>T | CA2653107680 | PCIF1 | c.*79C>T (n.*79C>T) c.1135C>T | gnomAD v4 |
20 | g.45947837C>A | CA2653107681 | PCIF1 | c.*82C>A (n.*82C>A) c.1138C>A | gnomAD v4 |
20 | g.45947837C= | CA2366447975 | PCIF1 | c.*82C= (n.*82C=) c.1138C= | |
20 | g.45947837C>G | CA2653107682 | PCIF1 | c.*82C>G (n.*82C>G) c.1138C>G | gnomAD v4 |
20 | g.45947837C>T | CA315641407 | PCIF1 | c.*82C>T (n.*82C>T) c.1138C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947838G>A | CA315641411 | PCIF1 | c.*83G>A (n.*83G>A) c.1139G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947838G= | CA2366447976 | PCIF1 | c.*83G= (n.*83G=) c.1139G= | |
20 | g.45947839G>A | CA2653107683 | PCIF1 | c.*84G>A (n.*84G>A) c.1140G>A | gnomAD v4 |
20 | g.45947839G>C | CA315641415 | PCIF1 | c.*84G>C (n.*84G>C) c.1140G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947839G= | CA2366447977 | PCIF1 | c.*84G= (n.*84G=) c.1140G= | |
20 | g.45947839G>T | CA2653107684 | PCIF1 | c.*84G>T (n.*84G>T) c.1140G>T | gnomAD v4 |
20 | g.45947839_45947840delinsGC | CA2366447978 | PCIF1 | c.*84_*85delinsGC (n.*84_*85delinsGC) c.1140_1141delinsGC |