Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.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>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 |