Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
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= |