| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 20 | g.45947785G>A | CA9884705 | PCIF1 | c.*30G>A (n.*30G>A) c.1086G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947785G= | CA2366447940 | PCIF1 | c.*30G= (n.*30G=) c.1086G= | |
| 20 | g.45947785G>T | CA2653107647 | PCIF1 | c.*30G>T (n.*30G>T) c.1086G>T | gnomAD v4 |
| 20 | g.45947786G>A | CA2577412988 | PCIF1 | c.*31G>A (n.*31G>A) c.1087G>A | gnomAD v4 |
| 20 | g.45947786G>C | CA2366447942 | PCIF1 | c.*31G>C (n.*31G>C) c.1087G>C | dbSNP |
| 20 | g.45947786G= | CA2366447941 | PCIF1 | c.*31G= (n.*31G=) c.1087G= | |
| 20 | g.45947786G>T | CA9884706 | PCIF1 | c.*31G>T (n.*31G>T) c.1087G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947787T>C | CA1017930150 | PCIF1 | c.*32T>C (n.*32T>C) c.1088T>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947787T= | CA2366447943 | PCIF1 | c.*32T= (n.*32T=) c.1088T= | |
| 20 | g.45947788G>A | CA9884707 | PCIF1 | c.*33G>A (n.*33G>A) c.1089G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947788G= | CA2366447944 | PCIF1 | c.*33G= (n.*33G=) c.1089G= | |
| 20 | g.45947789C>T | CA2577412989 | PCIF1 | c.*34C>T (n.*34C>T) c.1090C>T | gnomAD v4 |
| 20 | g.45947790T>C | CA2653107648 | PCIF1 | c.*35T>C (n.*35T>C) c.1091T>C | gnomAD v4 |
| 20 | g.45947791A= | CA2366447945 | PCIF1 | c.*36A= (n.*36A=) c.1092A= | |
| 20 | g.45947791A>G | CA2366447946 | PCIF1 | c.*36A>G (n.*36A>G) c.1092A>G | dbSNP |
| 20 | g.45947792G>A | CA2653107649 | PCIF1 | c.*37G>A (n.*37G>A) c.1093G>A | gnomAD v4 |
| 20 | g.45947792G= | CA2366447947 | PCIF1 | c.*37G= (n.*37G=) c.1093G= | |
| 20 | g.45947792G>T | CA9884708 | PCIF1 | c.*37G>T (n.*37G>T) c.1093G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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 |