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