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