| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.45947763del | CA2974733715 | PCIF1 | c.*8del (n.*8del) c.1064del | |
| 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>A | CA2974733717 | PCIF1 | c.*9G>A (n.*9G>A) c.1065G>A | |
| 20 | g.45947764G>C | CA2974733716 | PCIF1 | c.*9G>C (n.*9G>C) c.1065G>C | |
| 20 | g.45947764G>T | CA2653107628 | PCIF1 | c.*9G>T (n.*9G>T) c.1065G>T | gnomAD v4 |
| 20 | g.45947764_45947765insGGG | CA2974733718 | PCIF1 | c.*9_*10insGGG (n.*9_*10insGGG) c.1065_1066insGGG | |
| 20 | g.45947765del | CA2974733719 | PCIF1 | c.*10del (n.*10del) c.1066del | |
| 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.45947765_45947766insTCCTCCTCCCCGCAGGATATGTTAAGT | CA2974733720 | PCIF1 | c.*10_*11insTCCTCCTCCCCGCAGGATATGTTAAGT (n.*10_*11insTCCTCCTCCCCGCAGGATATGTTAAGT) c.1066_1067insTCCTCCTCCCCGCAGGATATGTTAAGT | |
| 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.45947769dup | CA2974733721 | PCIF1 | c.*14dup (n.*14dup) c.1070dup | |
| 20 | g.45947769del | CA2653107631 | PCIF1 | c.*14del (n.*14del) c.1070del | gnomAD v4 |
| 20 | g.45947768_45947769del | CA2974733722 | PCIF1 | c.*13_*14del (n.*13_*14del) c.1069_1070del | |
| 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>C | CA2974733723 | PCIF1 | c.*13G>C (n.*13G>C) c.1069G>C | |
| 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>C | CA2974733724 | PCIF1 | c.*14G>C (n.*14G>C) c.1070G>C | |
| 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>C | CA3039193906 | PCIF1 | c.*18A>C (n.*18A>C) c.1074A>C | |
| 20 | g.45947773A>G | CA2974733725 | PCIF1 | c.*18A>G (n.*18A>G) c.1074A>G | |
| 20 | g.45947773A>T | CA2842603141 | PCIF1 | c.*18A>T (n.*18A>T) c.1074A>T | |
| 20 | g.45947774G>A | CA2974733727 | PCIF1 | c.*19G>A (n.*19G>A) c.1075G>A | |
| 20 | g.45947774G>C | CA2974733726 | PCIF1 | c.*19G>C (n.*19G>C) c.1075G>C |