| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.45947769del | CA2653107631 | PCIF1 | c.*14del (n.*14del) c.1070del | gnomAD v4 |
| 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= | 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= | 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>G | CA636176173 | PCIF1 | c.*15A>G (n.*15A>G) c.1071A>G | dbSNP gnomAD v2 |
| 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.45947775G>A | CA636176174 | PCIF1 | c.*20G>A (n.*20G>A) c.1076G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947775G>C | CA9884701 | PCIF1 | c.*20G>C (n.*20G>C) c.1076G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947775G= | CA2366447925 | PCIF1 | c.*20G= (n.*20G=) c.1076G= | |
| 20 | g.45947776A= | CA2366447926 | PCIF1 | c.*21A= (n.*21A=) c.1077A= | |
| 20 | g.45947776A>C | CA2366447927 | PCIF1 | c.*21A>C (n.*21A>C) c.1077A>C | dbSNP gnomAD v4 |
| 20 | g.45947777G>A | CA9884703 | PCIF1 | c.*22G>A (n.*22G>A) c.1078G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947777G= | CA2366447928 | PCIF1 | c.*22G= (n.*22G=) c.1078G= | |
| 20 | g.45947777G>T | CA9884702 | PCIF1 | c.*22G>T (n.*22G>T) c.1078G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947777_45947778delinsGC | CA2366447929 | PCIF1 | c.*22_*23delinsGC (n.*22_*23delinsGC) c.1078_1079delinsGC | |
| 20 | g.45947778C>A | CA2366447932 | PCIF1 | c.*23C>A (n.*23C>A) c.1079C>A | dbSNP |
| 20 | g.45947778C= | CA2366447931 | PCIF1 | c.*23C= (n.*23C=) c.1079C= | |
| 20 | g.45947778C>T | CA2577412986 | PCIF1 | c.*23C>T (n.*23C>T) c.1079C>T | gnomAD v4 |
| 20 | g.45947781del | CA2366447930 | PCIF1 | c.*26del (n.*26del) c.1082del | dbSNP gnomAD v4 |
| 20 | g.45947779C= | CA2366447933 | PCIF1 | c.*24C= (n.*24C=) c.1080C= | |
| 20 | g.45947779C>T | CA9884704 | PCIF1 | c.*24C>T (n.*24C>T) c.1080C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947780C>A | CA2577412987 | PCIF1 | c.*25C>A (n.*25C>A) c.1081C>A | |
| 20 | g.45947780C= | CA2366447934 | PCIF1 | c.*25C= (n.*25C=) c.1081C= | |
| 20 | g.45947780C>T | CA636176175 | PCIF1 | c.*25C>T (n.*25C>T) c.1081C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947781C= | CA2366447935 | PCIF1 | c.*26C= (n.*26C=) c.1082C= | |
| 20 | g.45947781C>G | CA744845224 | PCIF1 | c.*26C>G (n.*26C>G) c.1082C>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947781C>T | CA744845223 | PCIF1 | c.*26C>T (n.*26C>T) c.1082C>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947781_45947782delinsCA | CA2366447936 | PCIF1 | c.*26_*27delinsCA (n.*26_*27delinsCA) c.1082_1083delinsCA | |
| 20 | g.45947782del | CA2366447937 | PCIF1 | c.*27del (n.*27del) c.1083del | dbSNP |
| 20 | g.45947782A>T | CA2653107644 | PCIF1 | c.*27A>T (n.*27A>T) c.1083A>T | gnomAD v4 |
| 20 | g.45947782_45947783delinsAG | CA2366447938 | PCIF1 | c.*27_*28delinsAG (n.*27_*28delinsAG) c.1083_1084delinsAG | |
| 20 | g.45947783G>T | CA2653107645 | PCIF1 | c.*28G>T (n.*28G>T) c.1084G>T | gnomAD v4 |
| 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 |