Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.45947855_45947866del | CA2653107694 | PCIF1 | c.*100_*111del (n.*100_*111del) c.1156_1167del | gnomAD v4 |
20 | g.45947855_45947867del | CA2653107695 | PCIF1 | c.*100_*112del (n.*100_*112del) c.1156_1168del | gnomAD v4 |
20 | g.45947858_45947866dup | CA1017930225 | PCIF1 | c.*103_*111dup (n.*103_*111dup) c.1159_1167dup | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947863T>A | CA2580576422 | PCIF1 | c.*108T>A (n.*108T>A) c.1164T>A | |
20 | g.45947863T>C | CA14776170 | PCIF1 | c.*108T>C (n.*108T>C) c.1164T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947863T>G | CA2580576423 | PCIF1 | c.*108T>G (n.*108T>G) c.1164T>G | |
20 | g.45947863T= | CA2366447988 | PCIF1 | c.*108T= (n.*108T=) c.1164T= | |
20 | g.45947864G>A | CA636176181 | PCIF1 | c.*109G>A (n.*109G>A) c.1165G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947864G= | CA2366447989 | PCIF1 | c.*109G= (n.*109G=) c.1165G= | |
20 | g.45947865G>A | CA1017930228 | PCIF1 | c.*110G>A (n.*110G>A) c.1166G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947865G= | CA2366447990 | PCIF1 | c.*110G= (n.*110G=) c.1166G= | |
20 | g.45947867T>G | CA315641477 | PCIF1 | c.*112T>G (n.*112T>G) c.1168T>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947867T= | CA2366447991 | PCIF1 | c.*112T= (n.*112T=) c.1168T= | |
20 | g.45947868C>A | CA2653107697 | PCIF1 | c.*113C>A (n.*113C>A) c.1169C>A | gnomAD v4 |
20 | g.45947868C>T | CA2653107698 | PCIF1 | c.*113C>T (n.*113C>T) c.1169C>T | gnomAD v4 |
20 | g.45947870G>A | CA2653107699 | PCIF1 | c.*115G>A (n.*115G>A) c.1171G>A | gnomAD v4 |
20 | g.45947870G>T | CA2741670522 | PCIF1 | c.*115G>T (n.*115G>T) c.1171G>T | |
20 | g.45947871C= | CA2366447992 | PCIF1 | c.*116C= (n.*116C=) c.1172C= | |
20 | g.45947871C>T | CA315641492 | PCIF1 | c.*116C>T (n.*116C>T) c.1172C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947872C>T | CA2653107700 | PCIF1 | c.*117C>T (n.*117C>T) c.1173C>T | gnomAD v4 |
20 | g.45947873A>G | CA2653107701 | PCIF1 | c.*118A>G (n.*118A>G) c.1174A>G | gnomAD v4 |
20 | g.45947874G>A | CA2653107702 | PCIF1 | c.*119G>A (n.*119G>A) c.1175G>A | gnomAD v4 |
20 | g.45947875G>A | CA2577413003 | PCIF1 | c.*120G>A (n.*120G>A) c.1176G>A | |
20 | g.45947876G>A | CA2653107703 | PCIF1 | c.*121G>A (n.*121G>A) c.1177G>A | gnomAD v4 |
20 | g.45947876G= | CA2366447993 | PCIF1 | c.*121G= (n.*121G=) c.1177G= | |
20 | g.45947876G>T | CA744845275 | PCIF1 | c.*121G>T (n.*121G>T) c.1177G>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947877C>A | CA2653107704 | PCIF1 | c.*122C>A (n.*122C>A) c.1178C>A | gnomAD v4 |
20 | g.45947877C= | CA2366447994 | PCIF1 | c.*122C= (n.*122C=) c.1178C= | |
20 | g.45947877C>G | CA2653107705 | PCIF1 | c.*122C>G (n.*122C>G) c.1178C>G | gnomAD v4 |
20 | g.45947877C>T | CA744845277 | PCIF1 | c.*122C>T (n.*122C>T) c.1178C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45947878T>C | CA2653107706 | PCIF1 | c.*123T>C (n.*123T>C) c.1179T>C | gnomAD v4 |
20 | g.45947879C>T | CA2653107708 | PCIF1 | c.*124C>T (n.*124C>T) c.1180C>T | gnomAD v4 |
20 | g.45947882del | CA2653107707 | PCIF1 | c.*127del (n.*127del) c.1183del | gnomAD v4 |
20 | g.45947880C>A | CA2653107709 | PCIF1 | c.*125C>A (n.*125C>A) c.1181C>A | gnomAD v4 |
20 | g.45947882C>A | CA2653107710 | PCIF1 | c.*127C>A (n.*127C>A) c.1183C>A | gnomAD v4 |
20 | g.45947883T>C | CA2653107711 | PCIF1 | c.*128T>C (n.*128T>C) c.1184T>C | gnomAD v4 |
20 | g.45947884C>A | CA2653107712 | PCIF1 | c.*129C>A (n.*129C>A) c.1185C>A | gnomAD v4 |
20 | g.45947884C= | CA2366447995 | PCIF1 | c.*129C= (n.*129C=) c.1185C= | |
20 | g.45947884C>T | CA2366447996 | PCIF1 | c.*129C>T (n.*129C>T) c.1185C>T | dbSNP gnomAD v4 |
20 | g.45947885C>A | CA2653107713 | PCIF1 | c.*130C>A (n.*130C>A) c.1186C>A | gnomAD v4 |
20 | g.45947885C= | CA2366447997 | PCIF1 | c.*130C= (n.*130C=) c.1186C= | |
20 | g.45947885C>T | CA315641497 | PCIF1 | c.*130C>T (n.*130C>T) c.1186C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45947886C>A | CA2653107714 | PCIF1 | c.*131C>A (n.*131C>A) c.1187C>A | gnomAD v4 |
20 | g.45947886C>G | CA2653107715 | PCIF1 | c.*131C>G (n.*131C>G) c.1187C>G | gnomAD v4 |
20 | g.45947887T>A | CA2653107716 | PCIF1 | c.*132T>A (n.*132T>A) c.1188T>A | gnomAD v4 |
20 | g.45947888G>A | CA2653107717 | PCIF1 | c.*133G>A (n.*133G>A) c.1189G>A | gnomAD v4 |
20 | g.45947888G>C | CA2577413004 | PCIF1 | c.*133G>C (n.*133G>C) c.1189G>C | gnomAD v4 |
20 | g.45947888G>T | CA2653107718 | PCIF1 | c.*133G>T (n.*133G>T) c.1189G>T | gnomAD v4 |
20 | g.45947889C= | CA2366447998 | PCIF1 | c.*134C= (n.*134C=) c.1190C= | |
20 | g.45947889C>T | CA315641501 | PCIF1 | c.*134C>T (n.*134C>T) c.1190C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |