UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.45947569C>A | CA409231220 | PCIF1 | c.1929C>A (p.Phe643Leu) c.870C>A c.885C>A (p.Phe295Leu) | |
| 20 | g.45947569C>G | CA409231221 | PCIF1 | c.1929C>G (p.Phe643Leu) c.870C>G c.885C>G (p.Phe295Leu) | |
| 20 | g.45947569C>T | CA510753605 | PCIF1 | c.1929C>T (p.Phe643=) c.870C>T c.885C>T (p.Phe295=) | dbSNP |
| 20 | g.45947570C>A | CA409231222 | PCIF1 | c.1930C>A (p.Leu644Ile) c.871C>A c.886C>A (p.Leu296Ile) | |
| 20 | g.45947570C= | CA2366447809 | PCIF1 | c.1930C= (p.Leu644=) c.871C= c.886C= (p.Leu296=) | |
| 20 | g.45947570C>G | CA409231223 | PCIF1 | c.1930C>G (p.Leu644Val) c.871C>G c.886C>G (p.Leu296Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947570C>T | CA510753606 | PCIF1 | c.1930C>T (p.Leu644=) c.871C>T c.886C>T (p.Leu296=) | dbSNP gnomAD v4 |
| 20 | g.45947571T>A | CA409231226 | PCIF1 | c.1931T>A (p.Leu644Gln) c.872T>A c.887T>A (p.Leu296Gln) | |
| 20 | g.45947571T>C | CA409231225 | PCIF1 | c.1931T>C (p.Leu644Pro) c.872T>C c.887T>C (p.Leu296Pro) | |
| 20 | g.45947571T>G | CA409231224 | PCIF1 | c.1931T>G (p.Leu644Arg) c.872T>G c.887T>G (p.Leu296Arg) | |
| 20 | g.45947572A>C | CA510753607 | PCIF1 | c.1932A>C (p.Leu644=) c.873A>C c.888A>C (p.Leu296=) | gnomAD v4 |
| 20 | g.45947572A>G | CA510753608 | PCIF1 | c.1932A>G (p.Leu644=) c.873A>G c.888A>G (p.Leu296=) | |
| 20 | g.45947572A>T | CA510753609 | PCIF1 | c.1932A>T (p.Leu644=) c.873A>T c.888A>T (p.Leu296=) | |
| 20 | g.45947573C>A | CA409231228 | PCIF1 | c.1933C>A (p.Gln645Lys) c.874C>A c.889C>A (p.Gln297Lys) | |
| 20 | g.45947573C>G | CA409231227 | PCIF1 | c.1933C>G (p.Gln645Glu) c.874C>G c.889C>G (p.Gln297Glu) | |
| 20 | g.45947573C>T | CA409231229 | PCIF1 | c.1933C>T (p.Gln645Ter) c.874C>T c.889C>T (p.Gln297Ter) | |
| 20 | g.45947574A>C | CA409231230 | PCIF1 | c.1934A>C (p.Gln645Pro) c.875A>C c.890A>C (p.Gln297Pro) | |
| 20 | g.45947574A>G | CA409231231 | PCIF1 | c.1934A>G (p.Gln645Arg) c.875A>G c.890A>G (p.Gln297Arg) | |
| 20 | g.45947574A>T | CA409231232 | PCIF1 | c.1934A>T (p.Gln645Leu) c.875A>T c.890A>T (p.Gln297Leu) | |
| 20 | g.45947575G>A | CA510753610 | PCIF1 | c.1935G>A (p.Gln645=) c.876G>A c.891G>A (p.Gln297=) | dbSNP |
| 20 | g.45947575G>C | CA409231233 | PCIF1 | c.1935G>C (p.Gln645His) c.876G>C c.891G>C (p.Gln297His) | |
| 20 | g.45947575G= | CA2366447810 | PCIF1 | c.1935G= (p.Gln645=) c.876G= c.891G= (p.Gln297=) | |
| 20 | g.45947575G>T | CA409231234 | PCIF1 | c.1935G>T (p.Gln645His) c.876G>T c.891G>T (p.Gln297His) | |
| 20 | g.45947576A>C | CA409231235 | PCIF1 | c.1936A>C (p.Asn646His) c.877A>C c.892A>C (p.Asn298His) | |
| 20 | g.45947576A>G | CA409231236 | PCIF1 | c.1936A>G (p.Asn646Asp) c.877A>G c.892A>G (p.Asn298Asp) | |
| 20 | g.45947576A>T | CA409231237 | PCIF1 | c.1936A>T (p.Asn646Tyr) c.877A>T c.892A>T (p.Asn298Tyr) | |
| 20 | g.45947577A>C | CA409231238 | PCIF1 | c.1937A>C (p.Asn646Thr) c.878A>C c.893A>C (p.Asn298Thr) | |
| 20 | g.45947577A>G | CA409231239 | PCIF1 | c.1937A>G (p.Asn646Ser) c.878A>G c.893A>G (p.Asn298Ser) | |
| 20 | g.45947577A>T | CA409231240 | PCIF1 | c.1937A>T (p.Asn646Ile) c.878A>T c.893A>T (p.Asn298Ile) | |
| 20 | g.45947578C>A | CA409231242 | PCIF1 | c.1938C>A (p.Asn646Lys) c.879C>A c.894C>A (p.Asn298Lys) | |
| 20 | g.45947578C= | CA2366447811 | PCIF1 | c.1938C= (p.Asn646=) c.879C= c.894C= (p.Asn298=) | |
| 20 | g.45947578C>G | CA409231241 | PCIF1 | c.1938C>G (p.Asn646Lys) c.879C>G c.894C>G (p.Asn298Lys) | |
| 20 | g.45947578C>T | CA9884647 | PCIF1 | c.1938C>T (p.Asn646=) c.879C>T c.894C>T (p.Asn298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947579G>A | CA9884648 | PCIF1 | c.1939G>A (p.Asp647Asn) c.880G>A c.895G>A (p.Asp299Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947579G>C | CA409231243 | PCIF1 | c.1939G>C (p.Asp647His) c.880G>C c.895G>C (p.Asp299His) | |
| 20 | g.45947579G= | CA2366447812 | PCIF1 | c.1939G= (p.Asp647=) c.880G= c.895G= (p.Asp299=) | |
| 20 | g.45947579G>T | CA409231244 | PCIF1 | c.1939G>T (p.Asp647Tyr) c.880G>T c.895G>T (p.Asp299Tyr) | gnomAD v4 |
| 20 | g.45947580A>C | CA409231245 | PCIF1 | c.1940A>C (p.Asp647Ala) c.881A>C c.896A>C (p.Asp299Ala) | |
| 20 | g.45947580A>G | CA409231246 | PCIF1 | c.1940A>G (p.Asp647Gly) c.881A>G c.896A>G (p.Asp299Gly) | |
| 20 | g.45947580A>T | CA409231247 | PCIF1 | c.1940A>T (p.Asp647Val) c.881A>T c.896A>T (p.Asp299Val) | |
| 20 | g.45947581C>A | CA409231248 | PCIF1 | c.1941C>A (p.Asp647Glu) c.882C>A c.897C>A (p.Asp299Glu) | dbSNP gnomAD v2 |
| 20 | g.45947581C= | CA2366447813 | PCIF1 | c.1941C= (p.Asp647=) c.882C= c.897C= (p.Asp299=) | |
| 20 | g.45947581C>G | CA409231249 | PCIF1 | c.1941C>G (p.Asp647Glu) c.882C>G c.897C>G (p.Asp299Glu) | |
| 20 | g.45947581C>T | CA9884649 | PCIF1 | c.1941C>T (p.Asp647=) c.882C>T c.897C>T (p.Asp299=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947582C>A | CA409231250 | PCIF1 | c.1942C>A (p.Pro648Thr) c.883C>A c.898C>A (p.Pro300Thr) | |
| 20 | g.45947582C= | CA2366447814 | PCIF1 | c.1942C= (p.Pro648=) c.883C= c.898C= (p.Pro300=) | |
| 20 | g.45947582C>G | CA409231251 | PCIF1 | c.1942C>G (p.Pro648Ala) c.883C>G c.898C>G (p.Pro300Ala) | |
| 20 | g.45947582C>T | CA409231252 | PCIF1 | c.1942C>T (p.Pro648Ser) c.883C>T c.898C>T (p.Pro300Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947583C>A | CA409231254 | PCIF1 | c.1943C>A (p.Pro648His) c.884C>A c.899C>A (p.Pro300His) | |
| 20 | g.45947583C>G | CA409231255 | PCIF1 | c.1943C>G (p.Pro648Arg) c.884C>G c.899C>G (p.Pro300Arg) | |
| 20 | g.45947583C>T | CA409231253 | PCIF1 | c.1943C>T (p.Pro648Leu) c.884C>T c.899C>T (p.Pro300Leu) | |
| 20 | g.45947584T>A | CA510753611 | PCIF1 | c.1944T>A (p.Pro648=) c.885T>A c.900T>A (p.Pro300=) | |
| 20 | g.45947584T>C | CA9884650 | PCIF1 | c.1944T>C (p.Pro648=) c.885T>C c.900T>C (p.Pro300=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947584T>G | CA510753612 | PCIF1 | c.1944T>G (p.Pro648=) c.885T>G c.900T>G (p.Pro300=) | |
| 20 | g.45947584T= | CA2366447815 | PCIF1 | c.1944T= (p.Pro648=) c.885T= c.900T= (p.Pro300=) | |
| 20 | g.45947585G>A | CA409231256 | PCIF1 | c.1945G>A (p.Gly649Ser) c.886G>A c.901G>A (p.Gly301Ser) | |
| 20 | g.45947585G>C | CA409231257 | PCIF1 | c.1945G>C (p.Gly649Arg) c.886G>C c.901G>C (p.Gly301Arg) | |
| 20 | g.45947585G>T | CA409231258 | PCIF1 | c.1945G>T (p.Gly649Cys) c.886G>T c.901G>T (p.Gly301Cys) | |
| 20 | g.45947586G>A | CA409231259 | PCIF1 | c.1946G>A (p.Gly649Asp) c.887G>A c.902G>A (p.Gly301Asp) | dbSNP gnomAD v2 |
| 20 | g.45947586G>C | CA409231260 | PCIF1 | c.1946G>C (p.Gly649Ala) c.887G>C c.902G>C (p.Gly301Ala) | |
| 20 | g.45947586G= | CA2366447816 | PCIF1 | c.1946G= (p.Gly649=) c.887G= c.902G= (p.Gly301=) | |
| 20 | g.45947586G>T | CA409231261 | PCIF1 | c.1946G>T (p.Gly649Val) c.887G>T c.902G>T (p.Gly301Val) | |
| 20 | g.45947587C>A | CA510753615 | PCIF1 | c.1947C>A (p.Gly649=) c.888C>A c.903C>A (p.Gly301=) | dbSNP |
| 20 | g.45947587C= | CA2366447817 | PCIF1 | c.1947C= (p.Gly649=) c.888C= c.903C= (p.Gly301=) | |
| 20 | g.45947587C>G | CA510753616 | PCIF1 | c.1947C>G (p.Gly649=) c.888C>G c.903C>G (p.Gly301=) | |
| 20 | g.45947587C>T | CA9884651 | PCIF1 | c.1947C>T (p.Gly649=) c.888C>T c.903C>T (p.Gly301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947588T>A | CA409231262 | PCIF1 | c.1948T>A (p.Phe650Ile) c.889T>A c.904T>A (p.Phe302Ile) | |
| 20 | g.45947588T>C | CA409231263 | PCIF1 | c.1948T>C (p.Phe650Leu) c.889T>C c.904T>C (p.Phe302Leu) | |
| 20 | g.45947588T>G | CA409231264 | PCIF1 | c.1948T>G (p.Phe650Val) c.889T>G c.904T>G (p.Phe302Val) | |
| 20 | g.45947589T>A | CA409231265 | PCIF1 | c.1949T>A (p.Phe650Tyr) c.890T>A c.905T>A (p.Phe302Tyr) | |
| 20 | g.45947589T>C | CA409231266 | PCIF1 | c.1949T>C (p.Phe650Ser) c.890T>C c.905T>C (p.Phe302Ser) | |
| 20 | g.45947589T>G | CA409231267 | PCIF1 | c.1949T>G (p.Phe650Cys) c.890T>G c.905T>G (p.Phe302Cys) | |
| 20 | g.45947590T>A | CA409231268 | PCIF1 | c.1950T>A (p.Phe650Leu) c.891T>A c.906T>A (p.Phe302Leu) | |
| 20 | g.45947590T>C | CA510753621 | PCIF1 | c.1950T>C (p.Phe650=) c.891T>C c.906T>C (p.Phe302=) | |
| 20 | g.45947590T>G | CA409231269 | PCIF1 | c.1950T>G (p.Phe650Leu) c.891T>G c.906T>G (p.Phe302Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947590T= | CA2366447818 | PCIF1 | c.1950T= (p.Phe650=) c.891T= c.906T= (p.Phe302=) | |
| 20 | g.45947591G>A | CA409231270 | PCIF1 | c.1951G>A (p.Ala651Thr) c.892G>A c.907G>A (p.Ala303Thr) | dbSNP gnomAD v2 |
| 20 | g.45947591G>C | CA409231271 | PCIF1 | c.1951G>C (p.Ala651Pro) c.892G>C c.907G>C (p.Ala303Pro) | |
| 20 | g.45947591G= | CA2366447819 | PCIF1 | c.1951G= (p.Ala651=) c.892G= c.907G= (p.Ala303=) | |
| 20 | g.45947591G>T | CA409231272 | PCIF1 | c.1951G>T (p.Ala651Ser) c.892G>T c.907G>T (p.Ala303Ser) | |
| 20 | g.45947592C>A | CA409231273 | PCIF1 | c.1952C>A (p.Ala651Asp) c.893C>A c.908C>A (p.Ala303Asp) | |
| 20 | g.45947592C>G | CA409231274 | PCIF1 | c.1952C>G (p.Ala651Gly) c.893C>G c.908C>G (p.Ala303Gly) | |
| 20 | g.45947592C>T | CA409231275 | PCIF1 | c.1952C>T (p.Ala651Val) c.893C>T c.908C>T (p.Ala303Val) | |
| 20 | g.45947593C>A | CA510753626 | PCIF1 | c.1953C>A (p.Ala651=) c.894C>A c.909C>A (p.Ala303=) | |
| 20 | g.45947593C>G | CA510753627 | PCIF1 | c.1953C>G (p.Ala651=) c.894C>G c.909C>G (p.Ala303=) | |
| 20 | g.45947593C>T | CA510753628 | PCIF1 | c.1953C>T (p.Ala651=) c.894C>T c.909C>T (p.Ala303=) | |
| 20 | g.45947594A>C | CA409231276 | PCIF1 | c.1954A>C (p.Lys652Gln) c.895A>C c.910A>C (p.Lys304Gln) | |
| 20 | g.45947594A>G | CA409231277 | PCIF1 | c.1954A>G (p.Lys652Glu) c.895A>G c.910A>G (p.Lys304Glu) | |
| 20 | g.45947594A>T | CA409231278 | PCIF1 | c.1954A>T (p.Lys652Ter) c.895A>T c.910A>T (p.Lys304Ter) | |
| 20 | g.45947595A>C | CA409231279 | PCIF1 | c.1955A>C (p.Lys652Thr) c.896A>C c.911A>C (p.Lys304Thr) | |
| 20 | g.45947595A>G | CA409231280 | PCIF1 | c.1955A>G (p.Lys652Arg) c.896A>G c.911A>G (p.Lys304Arg) | |
| 20 | g.45947595A>T | CA409231281 | PCIF1 | c.1955A>T (p.Lys652Met) c.896A>T c.911A>T (p.Lys304Met) | |
| 20 | g.45947596G>A | CA510753630 | PCIF1 | c.1956G>A (p.Lys652=) c.897G>A c.912G>A (p.Lys304=) | |
| 20 | g.45947596G>C | CA409231282 | PCIF1 | c.1956G>C (p.Lys652Asn) c.897G>C c.912G>C (p.Lys304Asn) | |
| 20 | g.45947596G>T | CA409231283 | PCIF1 | c.1956G>T (p.Lys652Asn) c.897G>T c.912G>T (p.Lys304Asn) | |
| 20 | g.45947597T>A | CA409231285 | PCIF1 | c.1957T>A (p.Trp653Arg) c.898T>A c.913T>A (p.Trp305Arg) | |
| 20 | g.45947597T>C | CA409231286 | PCIF1 | c.1957T>C (p.Trp653Arg) c.898T>C c.913T>C (p.Trp305Arg) | |
| 20 | g.45947597T>G | CA409231284 | PCIF1 | c.1957T>G (p.Trp653Gly) c.898T>G c.913T>G (p.Trp305Gly) | |
| 20 | g.45947598G>A | CA409231287 | PCIF1 | c.1958G>A (p.Trp653Ter) c.899G>A c.914G>A (p.Trp305Ter) | |
| 20 | g.45947598G>C | CA409231289 | PCIF1 | c.1958G>C (p.Trp653Ser) c.899G>C c.914G>C (p.Trp305Ser) | |
| 20 | g.45947598G>T | CA409231288 | PCIF1 | c.1958G>T (p.Trp653Leu) c.899G>T c.914G>T (p.Trp305Leu) | |
| 20 | g.45947599G>A | CA409231290 | PCIF1 | c.1959G>A (p.Trp653Ter) c.900G>A c.915G>A (p.Trp305Ter) | |
| 20 | g.45947599G>C | CA409231291 | PCIF1 | c.1959G>C (p.Trp653Cys) c.900G>C c.915G>C (p.Trp305Cys) | |
| 20 | g.45947599G>T | CA409231292 | PCIF1 | c.1959G>T (p.Trp653Cys) c.900G>T c.915G>T (p.Trp305Cys) | |
| 20 | g.45947600G>A | CA409231293 | PCIF1 | c.1960G>A (p.Ala654Thr) c.901G>A c.916G>A (p.Ala306Thr) | |
| 20 | g.45947600G>C | CA409231294 | PCIF1 | c.1960G>C (p.Ala654Pro) c.901G>C c.916G>C (p.Ala306Pro) | |
| 20 | g.45947600G>T | CA409231295 | PCIF1 | c.1960G>T (p.Ala654Ser) c.901G>T c.916G>T (p.Ala306Ser) | dbSNP |
| 20 | g.45947601C>A | CA409231296 | PCIF1 | c.1961C>A (p.Ala654Glu) c.902C>A c.917C>A (p.Ala306Glu) | |
| 20 | g.45947601C= | CA2366447820 | PCIF1 | c.1961C= (p.Ala654=) c.902C= c.917C= (p.Ala306=) | |
| 20 | g.45947601C>G | CA409231297 | PCIF1 | c.1961C>G (p.Ala654Gly) c.902C>G c.917C>G (p.Ala306Gly) | |
| 20 | g.45947601C>T | CA9884652 | PCIF1 | c.1961C>T (p.Ala654Val) c.902C>T c.917C>T (p.Ala306Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.45947602G>A | CA9884653 | PCIF1 | c.1962G>A (p.Ala654=) c.903G>A c.918G>A (p.Ala306=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947602G>C | CA510753637 | PCIF1 | c.1962G>C (p.Ala654=) c.903G>C c.918G>C (p.Ala306=) | |
| 20 | g.45947602G= | CA2366447821 | PCIF1 | c.1962G= (p.Ala654=) c.903G= c.918G= (p.Ala306=) | |
| 20 | g.45947602G>T | CA510753638 | PCIF1 | c.1962G>T (p.Ala654=) c.903G>T c.918G>T (p.Ala306=) | |
| 20 | g.45947603C>A | CA409231298 | PCIF1 | c.1963C>A (p.Pro655Thr) c.904C>A c.919C>A (p.Pro307Thr) | |
| 20 | g.45947603C= | CA2366447822 | PCIF1 | c.1963C= (p.Pro655=) c.904C= c.919C= (p.Pro307=) | |
| 20 | g.45947603C>G | CA409231299 | PCIF1 | c.1963C>G (p.Pro655Ala) c.904C>G c.919C>G (p.Pro307Ala) | dbSNP |
| 20 | g.45947603C>T | CA409231300 | PCIF1 | c.1963C>T (p.Pro655Ser) c.904C>T c.919C>T (p.Pro307Ser) | |
| 20 | g.45947604C>A | CA409231303 | PCIF1 | c.1964C>A (p.Pro655Gln) c.905C>A c.920C>A (p.Pro307Gln) | |
| 20 | g.45947604C= | CA2366447823 | PCIF1 | c.1964C= (p.Pro655=) c.905C= c.920C= (p.Pro307=) | |
| 20 | g.45947604C>G | CA409231302 | PCIF1 | c.1964C>G (p.Pro655Arg) c.905C>G c.920C>G (p.Pro307Arg) | |
| 20 | g.45947604C>T | CA409231301 | PCIF1 | c.1964C>T (p.Pro655Leu) c.905C>T c.920C>T (p.Pro307Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947605G>A | CA9884655 | PCIF1 | c.1965G>A (p.Pro655=) c.906G>A c.921G>A (p.Pro307=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.45947605G>C | CA510753640 | PCIF1 | c.1965G>C (p.Pro655=) c.906G>C c.921G>C (p.Pro307=) | gnomAD v4 |
| 20 | g.45947605G= | CA2366447824 | PCIF1 | c.1965G= (p.Pro655=) c.906G= c.921G= (p.Pro307=) | |
| 20 | g.45947605G>T | CA9884654 | PCIF1 | c.1965G>T (p.Pro655=) c.906G>T c.921G>T (p.Pro307=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947606A>C | CA409231304 | PCIF1 | c.1966A>C (p.Thr656Pro) c.907A>C c.922A>C (p.Thr308Pro) | |
| 20 | g.45947606A>G | CA409231305 | PCIF1 | c.1966A>G (p.Thr656Ala) c.907A>G c.922A>G (p.Thr308Ala) | |
| 20 | g.45947606A>T | CA409231306 | PCIF1 | c.1966A>T (p.Thr656Ser) c.907A>T c.922A>T (p.Thr308Ser) | |
| 20 | g.45947607C>A | CA409231307 | PCIF1 | c.1967C>A (p.Thr656Lys) c.908C>A c.923C>A (p.Thr308Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947607C= | CA2366447825 | PCIF1 | c.1967C= (p.Thr656=) c.908C= c.923C= (p.Thr308=) | |
| 20 | g.45947607C>G | CA409231308 | PCIF1 | c.1967C>G (p.Thr656Arg) c.908C>G c.923C>G (p.Thr308Arg) | |
| 20 | g.45947607C>T | CA9884656 | PCIF1 | c.1967C>T (p.Thr656Met) c.908C>T c.923C>T (p.Thr308Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947608G>A | CA9884657 | PCIF1 | c.1968G>A (p.Thr656=) c.909G>A c.924G>A (p.Thr308=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947608G>C | CA9884658 | PCIF1 | c.1968G>C (p.Thr656=) c.909G>C c.924G>C (p.Thr308=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947608G= | CA2366447826 | PCIF1 | c.1968G= (p.Thr656=) c.909G= c.924G= (p.Thr308=) | |
| 20 | g.45947608G>T | CA510753644 | PCIF1 | c.1968G>T (p.Thr656=) c.909G>T c.924G>T (p.Thr308=) | |
| 20 | g.45947609C>A | CA409231309 | PCIF1 | c.1969C>A (p.Pro657Thr) c.910C>A c.925C>A (p.Pro309Thr) | gnomAD v4 |
| 20 | g.45947609C>G | CA409231310 | PCIF1 | c.1969C>G (p.Pro657Ala) c.910C>G c.925C>G (p.Pro309Ala) | |
| 20 | g.45947609C>T | CA409231311 | PCIF1 | c.1969C>T (p.Pro657Ser) c.910C>T c.925C>T (p.Pro309Ser) | gnomAD v4 COSMIC |
| 20 | g.45947610C>A | CA409231312 | PCIF1 | c.1970C>A (p.Pro657His) c.911C>A c.926C>A (p.Pro309His) | |
| 20 | g.45947610C= | CA2366447827 | PCIF1 | c.1970C= (p.Pro657=) c.911C= c.926C= (p.Pro309=) | |
| 20 | g.45947610C>G | CA9884660 | PCIF1 | c.1970C>G (p.Pro657Arg) c.911C>G c.926C>G (p.Pro309Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947610C>T | CA9884659 | PCIF1 | c.1970C>T (p.Pro657Leu) c.911C>T c.926C>T (p.Pro309Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947611T>A | CA510753646 | PCIF1 | c.1971T>A (p.Pro657=) c.912T>A c.927T>A (p.Pro309=) | |
| 20 | g.45947611T>C | CA510753647 | PCIF1 | c.1971T>C (p.Pro657=) c.912T>C c.927T>C (p.Pro309=) | gnomAD v4 |
| 20 | g.45947611T>G | CA510753649 | PCIF1 | c.1971T>G (p.Pro657=) c.912T>G c.927T>G (p.Pro309=) | |
| 20 | g.45947612G>A | CA409231313 | PCIF1 | c.1972G>A (p.Glu658Lys) c.913G>A c.928G>A (p.Glu310Lys) | gnomAD v4 |
| 20 | g.45947612G>C | CA409231314 | PCIF1 | c.1972G>C (p.Glu658Gln) c.913G>C c.928G>C (p.Glu310Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947612G= | CA2366447828 | PCIF1 | c.1972G= (p.Glu658=) c.913G= c.928G= (p.Glu310=) | |
| 20 | g.45947612G>T | CA409231315 | PCIF1 | c.1972G>T (p.Glu658Ter) c.913G>T c.928G>T (p.Glu310Ter) | |
| 20 | g.45947613A>C | CA409231316 | PCIF1 | c.1973A>C (p.Glu658Ala) c.914A>C c.929A>C (p.Glu310Ala) | |
| 20 | g.45947613A>G | CA409231317 | PCIF1 | c.1973A>G (p.Glu658Gly) c.914A>G c.929A>G (p.Glu310Gly) | |
| 20 | g.45947613A>T | CA409231318 | PCIF1 | c.1973A>T (p.Glu658Val) c.914A>T c.929A>T (p.Glu310Val) | |
| 20 | g.45947614A>C | CA409231319 | PCIF1 | c.1974A>C (p.Glu658Asp) c.915A>C c.930A>C (p.Glu310Asp) | |
| 20 | g.45947614A>G | CA510753655 | PCIF1 | c.1974A>G (p.Glu658=) c.915A>G c.930A>G (p.Glu310=) | |
| 20 | g.45947614A>T | CA409231320 | PCIF1 | c.1974A>T (p.Glu658Asp) c.915A>T c.930A>T (p.Glu310Asp) | |
| 20 | g.45947615C>A | CA510753656 | PCIF1 | c.1975C>A (p.Arg659=) c.916C>A c.931C>A (p.Arg311=) | |
| 20 | g.45947615C= | CA2366447829 | PCIF1 | c.1975C= (p.Arg659=) c.916C= c.931C= (p.Arg311=) | |
| 20 | g.45947615C>G | CA409231321 | PCIF1 | c.1975C>G (p.Arg659Gly) c.916C>G c.931C>G (p.Arg311Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947615C>T | CA409231322 | PCIF1 | c.1975C>T (p.Arg659Trp) c.916C>T c.931C>T (p.Arg311Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947616G>A | CA409231323 | PCIF1 | c.1976G>A (p.Arg659Gln) c.917G>A c.932G>A (p.Arg311Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947616G>C | CA409231324 | PCIF1 | c.1976G>C (p.Arg659Pro) c.917G>C c.932G>C (p.Arg311Pro) | |
| 20 | g.45947616G= | CA2366447830 | PCIF1 | c.1976G= (p.Arg659=) c.917G= c.932G= (p.Arg311=) | |
| 20 | g.45947616G>T | CA409231325 | PCIF1 | c.1976G>T (p.Arg659Leu) c.917G>T c.932G>T (p.Arg311Leu) | |
| 20 | g.45947617G>A | CA510753662 | PCIF1 | c.1977G>A (p.Arg659=) c.918G>A c.933G>A (p.Arg311=) | |
| 20 | g.45947617G>C | CA510753660 | PCIF1 | c.1977G>C (p.Arg659=) c.918G>C c.933G>C (p.Arg311=) | |
| 20 | g.45947617G>T | CA510753659 | PCIF1 | c.1977G>T (p.Arg659=) c.918G>T c.933G>T (p.Arg311=) | gnomAD v4 |
| 20 | g.45947618C>A | CA409231326 | PCIF1 | c.1978C>A (p.Leu660Met) c.919C>A c.934C>A (p.Leu312Met) | |
| 20 | g.45947618C>G | CA409231327 | PCIF1 | c.1978C>G (p.Leu660Val) c.919C>G c.934C>G (p.Leu312Val) | |
| 20 | g.45947618C>T | CA510753663 | PCIF1 | c.1978C>T (p.Leu660=) c.919C>T c.934C>T (p.Leu312=) | |
| 20 | g.45947619T>A | CA409231328 | PCIF1 | c.1979T>A (p.Leu660Gln) c.920T>A c.935T>A (p.Leu312Gln) | |
| 20 | g.45947619T>C | CA409231329 | PCIF1 | c.1979T>C (p.Leu660Pro) c.920T>C c.935T>C (p.Leu312Pro) | |
| 20 | g.45947619T>G | CA409231330 | PCIF1 | c.1979T>G (p.Leu660Arg) c.920T>G c.935T>G (p.Leu312Arg) | |
| 20 | g.45947620G>A | CA315641097 | PCIF1 | c.1980G>A (p.Leu660=) c.921G>A c.936G>A (p.Leu312=) | dbSNP gnomAD v4 |
| 20 | g.45947620G>C | CA510753667 | PCIF1 | c.1980G>C (p.Leu660=) c.921G>C c.936G>C (p.Leu312=) | |
| 20 | g.45947620G= | CA2366447831 | PCIF1 | c.1980G= (p.Leu660=) c.921G= c.936G= (p.Leu312=) | |
| 20 | g.45947620G>T | CA510753665 | PCIF1 | c.1980G>T (p.Leu660=) c.921G>T c.936G>T (p.Leu312=) | |
| 20 | g.45947621C>A | CA409231331 | PCIF1 | c.1981C>A (p.Gln661Lys) c.922C>A c.937C>A (p.Gln313Lys) | |
| 20 | g.45947621C= | CA2366447832 | PCIF1 | c.1981C= (p.Gln661=) c.922C= c.937C= (p.Gln313=) | |
| 20 | g.45947621C>G | CA409231332 | PCIF1 | c.1981C>G (p.Gln661Glu) c.922C>G c.937C>G (p.Gln313Glu) | |
| 20 | g.45947621C>T | CA409231333 | PCIF1 | c.1981C>T (p.Gln661Ter) c.922C>T c.937C>T (p.Gln313Ter) | dbSNP gnomAD v4 |
| 20 | g.45947622A= | CA2366447833 | PCIF1 | c.1982A= (p.Gln661=) c.923A= c.938A= (p.Gln313=) | |
| 20 | g.45947622A>C | CA409231334 | PCIF1 | c.1982A>C (p.Gln661Pro) c.923A>C c.938A>C (p.Gln313Pro) | |
| 20 | g.45947622A>G | CA409231335 | PCIF1 | c.1982A>G (p.Gln661Arg) c.923A>G c.938A>G (p.Gln313Arg) | dbSNP |
| 20 | g.45947622A>T | CA409231336 | PCIF1 | c.1982A>T (p.Gln661Leu) c.923A>T c.938A>T (p.Gln313Leu) | |
| 20 | g.45947623G>A | CA510753669 | PCIF1 | c.1983G>A (p.Gln661=) c.924G>A c.939G>A (p.Gln313=) | |
| 20 | g.45947623G>C | CA409231337 | PCIF1 | c.1983G>C (p.Gln661His) c.924G>C c.939G>C (p.Gln313His) | |
| 20 | g.45947623G>T | CA409231338 | PCIF1 | c.1983G>T (p.Gln661His) c.924G>T c.939G>T (p.Gln313His) | gnomAD v4 |
| 20 | g.45947624G>A | CA409231341 | PCIF1 | c.1984G>A (p.Glu662Lys) c.925G>A c.940G>A (p.Glu314Lys) | dbSNP gnomAD v4 |
| 20 | g.45947624G>C | CA409231340 | PCIF1 | c.1984G>C (p.Glu662Gln) c.925G>C c.940G>C (p.Glu314Gln) | |
| 20 | g.45947624G= | CA2366447834 | PCIF1 | c.1984G= (p.Glu662=) c.925G= c.940G= (p.Glu314=) | |
| 20 | g.45947624G>T | CA409231339 | PCIF1 | c.1984G>T (p.Glu662Ter) c.925G>T c.940G>T (p.Glu314Ter) | |
| 20 | g.45947625A= | CA2366447835 | PCIF1 | c.1985A= (p.Glu662=) c.926A= c.941A= (p.Glu314=) | |
| 20 | g.45947625A>C | CA409231342 | PCIF1 | c.1985A>C (p.Glu662Ala) c.926A>C c.941A>C (p.Glu314Ala) | dbSNP |
| 20 | g.45947625A>G | CA409231343 | PCIF1 | c.1985A>G (p.Glu662Gly) c.926A>G c.941A>G (p.Glu314Gly) | dbSNP |
| 20 | g.45947625A>T | CA409231344 | PCIF1 | c.1985A>T (p.Glu662Val) c.926A>T c.941A>T (p.Glu314Val) | |
| 20 | g.45947626G>A | CA510753672 | PCIF1 | c.1986G>A (p.Glu662=) c.927G>A c.942G>A (p.Glu314=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947626G>C | CA409231345 | PCIF1 | c.1986G>C (p.Glu662Asp) c.927G>C c.942G>C (p.Glu314Asp) | |
| 20 | g.45947626G= | CA2366447836 | PCIF1 | c.1986G= (p.Glu662=) c.927G= c.942G= (p.Glu314=) | |
| 20 | g.45947626G>T | CA409231346 | PCIF1 | c.1986G>T (p.Glu662Asp) c.927G>T c.942G>T (p.Glu314Asp) | |
| 20 | g.45947627C>A | CA409231347 | PCIF1 | c.1987C>A (p.Leu663Met) c.928C>A c.943C>A (p.Leu315Met) | |
| 20 | g.45947627C= | CA2366447837 | PCIF1 | c.1987C= (p.Leu663=) c.928C= c.943C= (p.Leu315=) | |
| 20 | g.45947627C>G | CA409231348 | PCIF1 | c.1987C>G (p.Leu663Val) c.928C>G c.943C>G (p.Leu315Val) | |
| 20 | g.45947627C>T | CA510753676 | PCIF1 | c.1987C>T (p.Leu663=) c.928C>T c.943C>T (p.Leu315=) | dbSNP |
| 20 | g.45947628T>A | CA409231349 | PCIF1 | c.1988T>A (p.Leu663Gln) c.929T>A c.944T>A (p.Leu315Gln) | |
| 20 | g.45947628T>C | CA409231350 | PCIF1 | c.1988T>C (p.Leu663Pro) c.929T>C c.944T>C (p.Leu315Pro) | |
| 20 | g.45947628T>G | CA409231351 | PCIF1 | c.1988T>G (p.Leu663Arg) c.929T>G c.944T>G (p.Leu315Arg) | |
| 20 | g.45947629G>A | CA510753678 | PCIF1 | c.1989G>A (p.Leu663=) c.930G>A c.945G>A (p.Leu315=) | |
| 20 | g.45947629G>C | CA510753680 | PCIF1 | c.1989G>C (p.Leu663=) c.930G>C c.945G>C (p.Leu315=) | |
| 20 | g.45947629G>T | CA510753681 | PCIF1 | c.1989G>T (p.Leu663=) c.930G>T c.945G>T (p.Leu315=) | |
| 20 | g.45947630A>C | CA409231352 | PCIF1 | c.1990A>C (p.Ser664Arg) c.931A>C c.946A>C (p.Ser316Arg) | |
| 20 | g.45947630A>G | CA409231353 | PCIF1 | c.1990A>G (p.Ser664Gly) c.931A>G c.946A>G (p.Ser316Gly) | |
| 20 | g.45947630A>T | CA409231354 | PCIF1 | c.1990A>T (p.Ser664Cys) c.931A>T c.946A>T (p.Ser316Cys) | |
| 20 | g.45947631G>A | CA409231356 | PCIF1 | c.1991G>A (p.Ser664Asn) c.932G>A c.947G>A (p.Ser316Asn) | |
| 20 | g.45947631G>C | CA409231355 | PCIF1 | c.1991G>C (p.Ser664Thr) c.932G>C c.947G>C (p.Ser316Thr) | |
| 20 | g.45947631G= | CA2366447838 | PCIF1 | c.1991G= (p.Ser664=) c.932G= c.947G= (p.Ser316=) | |
| 20 | g.45947631G>T | CA9884661 | PCIF1 | c.1991G>T (p.Ser664Ile) c.932G>T c.947G>T (p.Ser316Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947632T>A | CA409231357 | PCIF1 | c.1992T>A (p.Ser664Arg) c.933T>A c.948T>A (p.Ser316Arg) | |
| 20 | g.45947632T>C | CA510753683 | PCIF1 | c.1992T>C (p.Ser664=) c.933T>C c.948T>C (p.Ser316=) | gnomAD v4 |
| 20 | g.45947632T>G | CA409231358 | PCIF1 | c.1992T>G (p.Ser664Arg) c.933T>G c.948T>G (p.Ser316Arg) | |
| 20 | g.45947633G>A | CA409231359 | PCIF1 | c.1993G>A (p.Ala665Thr) c.934G>A c.949G>A (p.Ala317Thr) | |
| 20 | g.45947633G>C | CA409231360 | PCIF1 | c.1993G>C (p.Ala665Pro) c.934G>C c.949G>C (p.Ala317Pro) | |
| 20 | g.45947633G>T | CA409231361 | PCIF1 | c.1993G>T (p.Ala665Ser) c.934G>T c.949G>T (p.Ala317Ser) | gnomAD v4 |
| 20 | g.45947634C>A | CA409231362 | PCIF1 | c.1994C>A (p.Ala665Asp) c.935C>A c.950C>A (p.Ala317Asp) | |
| 20 | g.45947634C>G | CA409231363 | PCIF1 | c.1994C>G (p.Ala665Gly) c.935C>G c.950C>G (p.Ala317Gly) | |
| 20 | g.45947634C>T | CA409231364 | PCIF1 | c.1994C>T (p.Ala665Val) c.935C>T c.950C>T (p.Ala317Val) | gnomAD v4 |
| 20 | g.45947635T>A | CA510753687 | PCIF1 | c.1995T>A (p.Ala665=) c.936T>A c.951T>A (p.Ala317=) | |
| 20 | g.45947635T>C | CA510753688 | PCIF1 | c.1995T>C (p.Ala665=) c.936T>C c.951T>C (p.Ala317=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947635T>G | CA510753689 | PCIF1 | c.1995T>G (p.Ala665=) c.936T>G c.951T>G (p.Ala317=) | |
| 20 | g.45947635T= | CA2366447839 | PCIF1 | c.1995T= (p.Ala665=) c.936T= c.951T= (p.Ala317=) | |
| 20 | g.45947636G>A | CA409231365 | PCIF1 | c.1996G>A (p.Ala666Thr) c.937G>A c.952G>A (p.Ala318Thr) | gnomAD v4 |
| 20 | g.45947636G>C | CA409231366 | PCIF1 | c.1996G>C (p.Ala666Pro) c.937G>C c.952G>C (p.Ala318Pro) | |
| 20 | g.45947636G>T | CA409231367 | PCIF1 | c.1996G>T (p.Ala666Ser) c.937G>T c.952G>T (p.Ala318Ser) | |
| 20 | g.45947637C>A | CA409231368 | PCIF1 | c.1997C>A (p.Ala666Asp) c.938C>A c.953C>A (p.Ala318Asp) | gnomAD v4 |
| 20 | g.45947637C>G | CA409231369 | PCIF1 | c.1997C>G (p.Ala666Gly) c.938C>G c.953C>G (p.Ala318Gly) | |
| 20 | g.45947637C>T | CA409231370 | PCIF1 | c.1997C>T (p.Ala666Val) c.938C>T c.953C>T (p.Ala318Val) | |
| 20 | g.45947638C>A | CA510753690 | PCIF1 | c.1998C>A (p.Ala666=) c.939C>A c.954C>A (p.Ala318=) | |
| 20 | g.45947638C= | CA2366447840 | PCIF1 | c.1998C= (p.Ala666=) c.939C= c.954C= (p.Ala318=) | |
| 20 | g.45947638C>G | CA510753691 | PCIF1 | c.1998C>G (p.Ala666=) c.939C>G c.954C>G (p.Ala318=) | |
| 20 | g.45947638C>T | CA315641112 | PCIF1 | c.1998C>T (p.Ala666=) c.939C>T c.954C>T (p.Ala318=) | dbSNP gnomAD v4 |
| 20 | g.45947639T>A | CA409231372 | PCIF1 | c.1999T>A (p.Tyr667Asn) c.940T>A c.955T>A (p.Tyr319Asn) | |
| 20 | g.45947639T>C | CA409231373 | PCIF1 | c.1999T>C (p.Tyr667His) c.940T>C c.955T>C (p.Tyr319His) | dbSNP |
| 20 | g.45947639T>G | CA409231371 | PCIF1 | c.1999T>G (p.Tyr667Asp) c.940T>G c.955T>G (p.Tyr319Asp) | |
| 20 | g.45947639T= | CA2366447841 | PCIF1 | c.1999T= (p.Tyr667=) c.940T= c.955T= (p.Tyr319=) | |
| 20 | g.45947640A= | CA2366447842 | PCIF1 | c.2000A= (p.Tyr667=) c.941A= c.956A= (p.Tyr319=) | |
| 20 | g.45947640A>C | CA315641117 | PCIF1 | c.2000A>C (p.Tyr667Ser) c.941A>C c.956A>C (p.Tyr319Ser) | dbSNP gnomAD v4 |
| 20 | g.45947640A>G | CA409231374 | PCIF1 | c.2000A>G (p.Tyr667Cys) c.941A>G c.956A>G (p.Tyr319Cys) | gnomAD v4 |
| 20 | g.45947640A>T | CA409231375 | PCIF1 | c.2000A>T (p.Tyr667Phe) c.941A>T c.956A>T (p.Tyr319Phe) | |
| 20 | g.45947641C>A | CA409231376 | PCIF1 | c.2001C>A (p.Tyr667Ter) c.942C>A c.957C>A (p.Tyr319Ter) | |
| 20 | g.45947641C>G | CA409231377 | PCIF1 | c.2001C>G (p.Tyr667Ter) c.942C>G c.957C>G (p.Tyr319Ter) | |
| 20 | g.45947641C>T | CA510753693 | PCIF1 | c.2001C>T (p.Tyr667=) c.942C>T c.957C>T (p.Tyr319=) | |
| 20 | g.45947642C>A | CA510753694 | PCIF1 | c.2002C>A (p.Arg668=) c.943C>A c.958C>A (p.Arg320=) | gnomAD v4 |
| 20 | g.45947642C= | CA2366447843 | PCIF1 | c.2002C= (p.Arg668=) c.943C= c.958C= (p.Arg320=) | |
| 20 | g.45947642C>G | CA409231378 | PCIF1 | c.2002C>G (p.Arg668Gly) c.943C>G c.958C>G (p.Arg320Gly) | |
| 20 | g.45947642C>T | CA9884662 | PCIF1 | c.2002C>T (p.Arg668Trp) c.943C>T c.958C>T (p.Arg320Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947643G>A | CA9884664 | PCIF1 | c.2003G>A (p.Arg668Gln) c.944G>A c.959G>A (p.Arg320Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947643G>C | CA409231379 | PCIF1 | c.2003G>C (p.Arg668Pro) c.944G>C c.959G>C (p.Arg320Pro) | |
| 20 | g.45947643G= | CA2366447844 | PCIF1 | c.2003G= (p.Arg668=) c.944G= c.959G= (p.Arg320=) | |
| 20 | g.45947643G>T | CA9884663 | PCIF1 | c.2003G>T (p.Arg668Leu) c.944G>T c.959G>T (p.Arg320Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947644G>A | CA510753699 | PCIF1 | c.2004G>A (p.Arg668=) c.945G>A c.960G>A (p.Arg320=) | |
| 20 | g.45947644G>C | CA510753697 | PCIF1 | c.2004G>C (p.Arg668=) c.945G>C c.960G>C (p.Arg320=) | |
| 20 | g.45947644G>T | CA510753698 | PCIF1 | c.2004G>T (p.Arg668=) c.945G>T c.960G>T (p.Arg320=) | |
| 20 | g.45947645C>A | CA409231380 | PCIF1 | c.2005C>A (p.Gln669Lys) c.946C>A c.961C>A (p.Gln321Lys) | |
| 20 | g.45947645C>G | CA409231381 | PCIF1 | c.2005C>G (p.Gln669Glu) c.946C>G c.961C>G (p.Gln321Glu) | |
| 20 | g.45947645C>T | CA409231382 | PCIF1 | c.2005C>T (p.Gln669Ter) c.946C>T c.961C>T (p.Gln321Ter) | |
| 20 | g.45947646A>C | CA409231383 | PCIF1 | c.2006A>C (p.Gln669Pro) c.947A>C c.962A>C (p.Gln321Pro) | |
| 20 | g.45947646A>G | CA409231385 | PCIF1 | c.2006A>G (p.Gln669Arg) c.947A>G c.962A>G (p.Gln321Arg) | |
| 20 | g.45947646A>T | CA409231384 | PCIF1 | c.2006A>T (p.Gln669Leu) c.947A>T c.962A>T (p.Gln321Leu) | |
| 20 | g.45947647G>A | CA510753703 | PCIF1 | c.2007G>A (p.Gln669=) c.948G>A c.963G>A (p.Gln321=) | |
| 20 | g.45947647G>C | CA409231386 | PCIF1 | c.2007G>C (p.Gln669His) c.948G>C c.963G>C (p.Gln321His) | |
| 20 | g.45947647G>T | CA409231387 | PCIF1 | c.2007G>T (p.Gln669His) c.948G>T c.963G>T (p.Gln321His) | |
| 20 | g.45947648T>A | CA409231388 | PCIF1 | c.2008T>A (p.Ser670Thr) c.949T>A c.964T>A (p.Ser322Thr) | |
| 20 | g.45947648T>C | CA409231389 | PCIF1 | c.2008T>C (p.Ser670Pro) c.949T>C c.964T>C (p.Ser322Pro) | |
| 20 | g.45947648T>G | CA409231390 | PCIF1 | c.2008T>G (p.Ser670Ala) c.949T>G c.964T>G (p.Ser322Ala) | gnomAD v4 |
| 20 | g.45947649C>A | CA409231391 | PCIF1 | c.2009C>A (p.Ser670Ter) c.950C>A c.965C>A (p.Ser322Ter) | |
| 20 | g.45947649C= | CA2366447845 | PCIF1 | c.2009C= (p.Ser670=) c.950C= c.965C= (p.Ser322=) | |
| 20 | g.45947649C>G | CA409231392 | PCIF1 | c.2009C>G (p.Ser670Ter) c.950C>G c.965C>G (p.Ser322Ter) | COSMIC |
| 20 | g.45947649C>T | CA409231393 | PCIF1 | c.2009C>T (p.Ser670Leu) c.950C>T c.965C>T (p.Ser322Leu) | dbSNP |
| 20 | g.45947650A= | CA2366447846 | PCIF1 | c.2010A= (p.Ser670=) c.951A= c.966A= (p.Ser322=) | |
| 20 | g.45947650A>C | CA510753707 | PCIF1 | c.2010A>C (p.Ser670=) c.951A>C c.966A>C (p.Ser322=) | |
| 20 | g.45947650A>G | CA510753709 | PCIF1 | c.2010A>G (p.Ser670=) c.951A>G c.966A>G (p.Ser322=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947650A>T | CA510753708 | PCIF1 | c.2010A>T (p.Ser670=) c.951A>T c.966A>T (p.Ser322=) | |
| 20 | g.45947651G>A | CA409231394 | PCIF1 | c.2011G>A (p.Gly671Ser) c.952G>A c.967G>A (p.Gly323Ser) | gnomAD v4 |
| 20 | g.45947651G>C | CA409231395 | PCIF1 | c.2011G>C (p.Gly671Arg) c.952G>C c.967G>C (p.Gly323Arg) | |
| 20 | g.45947651G>T | CA409231396 | PCIF1 | c.2011G>T (p.Gly671Cys) c.952G>T c.967G>T (p.Gly323Cys) | |
| 20 | g.45947652G>A | CA9884665 | PCIF1 | c.2012G>A (p.Gly671Asp) c.953G>A c.968G>A (p.Gly323Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947652G>C | CA409231398 | PCIF1 | c.2012G>C (p.Gly671Ala) c.953G>C c.968G>C (p.Gly323Ala) | |
| 20 | g.45947652G= | CA2366447847 | PCIF1 | c.2012G= (p.Gly671=) c.953G= c.968G= (p.Gly323=) | |
| 20 | g.45947652G>T | CA409231397 | PCIF1 | c.2012G>T (p.Gly671Val) c.953G>T c.968G>T (p.Gly323Val) | gnomAD v4 |
| 20 | g.45947653C>A | CA510753711 | PCIF1 | c.2013C>A (p.Gly671=) c.954C>A c.969C>A (p.Gly323=) | |
| 20 | g.45947653C= | CA2366447848 | PCIF1 | c.2013C= (p.Gly671=) c.954C= c.969C= (p.Gly323=) | |
| 20 | g.45947653C>G | CA510753712 | PCIF1 | c.2013C>G (p.Gly671=) c.954C>G c.969C>G (p.Gly323=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947653C>T | CA510753713 | PCIF1 | c.2013C>T (p.Gly671=) c.954C>T c.969C>T (p.Gly323=) | gnomAD v4 |
| 20 | g.45947654C>A | CA409231399 | PCIF1 | c.2014C>A (p.Arg672Ser) c.955C>A c.970C>A (p.Arg324Ser) | |
| 20 | g.45947654C= | CA2366447849 | PCIF1 | c.2014C= (p.Arg672=) c.955C= c.970C= (p.Arg324=) | |
| 20 | g.45947654C>G | CA409231400 | PCIF1 | c.2014C>G (p.Arg672Gly) c.955C>G c.970C>G (p.Arg324Gly) | dbSNP |
| 20 | g.45947654C>T | CA9884666 | PCIF1 | c.2014C>T (p.Arg672Cys) c.955C>T c.970C>T (p.Arg324Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947655G>A | CA9884667 | PCIF1 | c.2015G>A (p.Arg672His) c.956G>A c.971G>A (p.Arg324His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.45947655G>C | CA409231402 | PCIF1 | c.2015G>C (p.Arg672Pro) c.956G>C c.971G>C (p.Arg324Pro) | |
| 20 | g.45947655G= | CA2366447850 | PCIF1 | c.2015G= (p.Arg672=) c.956G= c.971G= (p.Arg324=) | |
| 20 | g.45947655G>T | CA409231401 | PCIF1 | c.2015G>T (p.Arg672Leu) c.956G>T c.971G>T (p.Arg324Leu) | gnomAD v4 |
| 20 | g.45947656C>A | CA510753714 | PCIF1 | c.2016C>A (p.Arg672=) c.957C>A c.972C>A (p.Arg324=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947656C= | CA2366447851 | PCIF1 | c.2016C= (p.Arg672=) c.957C= c.972C= (p.Arg324=) | |
| 20 | g.45947656C>G | CA510753715 | PCIF1 | c.2016C>G (p.Arg672=) c.957C>G c.972C>G (p.Arg324=) | |
| 20 | g.45947656C>T | CA510753716 | PCIF1 | c.2016C>T (p.Arg672=) c.957C>T c.972C>T (p.Arg324=) | gnomAD v4 |
| 20 | g.45947660_45947665dup | CA2653107420 | PCIF1 | c.2020_2025dup (p.Ser675_Ser676insHisSer) c.961_966dup c.976_981dup (p.Ser327_Ser328insHisSer) | gnomAD v4 |
| 20 | g.45947657A>C | CA409231403 | PCIF1 | c.2017A>C (p.Ser673Arg) c.958A>C c.973A>C (p.Ser325Arg) | |
| 20 | g.45947657A>G | CA409231405 | PCIF1 | c.2017A>G (p.Ser673Gly) c.958A>G c.973A>G (p.Ser325Gly) | COSMIC |
| 20 | g.45947657A>T | CA409231404 | PCIF1 | c.2017A>T (p.Ser673Cys) c.958A>T c.973A>T (p.Ser325Cys) | |
| 20 | g.45947658G>A | CA9884668 | PCIF1 | c.2018G>A (p.Ser673Asn) c.959G>A c.974G>A (p.Ser325Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947658G>C | CA9884669 | PCIF1 | c.2018G>C (p.Ser673Thr) c.959G>C c.974G>C (p.Ser325Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947658G= | CA2366447852 | PCIF1 | c.2018G= (p.Ser673=) c.959G= c.974G= (p.Ser325=) | |
| 20 | g.45947658G>T | CA409231406 | PCIF1 | c.2018G>T (p.Ser673Ile) c.959G>T c.974G>T (p.Ser325Ile) | |
| 20 | g.45947659C>A | CA409231407 | PCIF1 | c.2019C>A (p.Ser673Arg) c.960C>A c.975C>A (p.Ser325Arg) | |
| 20 | g.45947659C= | CA2366447853 | PCIF1 | c.2019C= (p.Ser673=) c.960C= c.975C= (p.Ser325=) | |
| 20 | g.45947659C>G | CA409231408 | PCIF1 | c.2019C>G (p.Ser673Arg) c.960C>G c.975C>G (p.Ser325Arg) | |
| 20 | g.45947659C>T | CA510753720 | PCIF1 | c.2019C>T (p.Ser673=) c.960C>T c.975C>T (p.Ser325=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947660C>A | CA409231409 | PCIF1 | c.2020C>A (p.His674Asn) c.961C>A c.976C>A (p.His326Asn) | |
| 20 | g.45947660C= | CA2366447854 | PCIF1 | c.2020C= (p.His674=) c.961C= c.976C= (p.His326=) | |
| 20 | g.45947660C>G | CA409231410 | PCIF1 | c.2020C>G (p.His674Asp) c.961C>G c.976C>G (p.His326Asp) | |
| 20 | g.45947660C>T | CA409231411 | PCIF1 | c.2020C>T (p.His674Tyr) c.961C>T c.976C>T (p.His326Tyr) | dbSNP |
| 20 | g.45947661A>C | CA409231412 | PCIF1 | c.2021A>C (p.His674Pro) c.962A>C c.977A>C (p.His326Pro) | |
| 20 | g.45947661A>G | CA409231413 | PCIF1 | c.2021A>G (p.His674Arg) c.962A>G c.977A>G (p.His326Arg) | |
| 20 | g.45947661A>T | CA409231414 | PCIF1 | c.2021A>T (p.His674Leu) c.962A>T c.977A>T (p.His326Leu) | |
| 20 | g.45947661_45947666dup | CA2653107438 | PCIF1 | c.2021_2026dup (p.Ser675_Ser676insTyrSer) c.962_967dup c.977_982dup (p.Ser327_Ser328insTyrSer) | gnomAD v4 |
| 20 | g.45947662C>A | CA409231415 | PCIF1 | c.2022C>A (p.His674Gln) c.963C>A c.978C>A (p.His326Gln) | |
| 20 | g.45947662C>G | CA409231416 | PCIF1 | c.2022C>G (p.His674Gln) c.963C>G c.978C>G (p.His326Gln) | |
| 20 | g.45947662C>T | CA510753724 | PCIF1 | c.2022C>T (p.His674=) c.963C>T c.978C>T (p.His326=) | |
| 20 | g.45947663A>C | CA409231419 | PCIF1 | c.2023A>C (p.Ser675Arg) c.964A>C c.979A>C (p.Ser327Arg) | gnomAD v4 |
| 20 | g.45947663A>G | CA409231418 | PCIF1 | c.2023A>G (p.Ser675Gly) c.964A>G c.979A>G (p.Ser327Gly) | |
| 20 | g.45947663A>T | CA409231417 | PCIF1 | c.2023A>T (p.Ser675Cys) c.964A>T c.979A>T (p.Ser327Cys) | |
| 20 | g.45947664G>A | CA409231420 | PCIF1 | c.2024G>A (p.Ser675Asn) c.965G>A c.980G>A (p.Ser327Asn) | |
| 20 | g.45947664G>C | CA409231421 | PCIF1 | c.2024G>C (p.Ser675Thr) c.965G>C c.980G>C (p.Ser327Thr) | |
| 20 | g.45947664G>T | CA409231422 | PCIF1 | c.2024G>T (p.Ser675Ile) c.965G>T c.980G>T (p.Ser327Ile) | |
| 20 | g.45947665C>A | CA409231423 | PCIF1 | c.2025C>A (p.Ser675Arg) c.966C>A c.981C>A (p.Ser327Arg) | |
| 20 | g.45947665C= | CA2366447855 | PCIF1 | c.2025C= (p.Ser675=) c.966C= c.981C= (p.Ser327=) | |
| 20 | g.45947665C>G | CA409231424 | PCIF1 | c.2025C>G (p.Ser675Arg) c.966C>G c.981C>G (p.Ser327Arg) | |
| 20 | g.45947665C>T | CA510753726 | PCIF1 | c.2025C>T (p.Ser675=) c.966C>T c.981C>T (p.Ser327=) | dbSNP gnomAD v4 |
| 20 | g.45947666T>A | CA409231425 | PCIF1 | c.2026T>A (p.Ser676Thr) c.967T>A c.982T>A (p.Ser328Thr) | |
| 20 | g.45947666T>C | CA409231426 | PCIF1 | c.2026T>C (p.Ser676Pro) c.967T>C c.982T>C (p.Ser328Pro) | |
| 20 | g.45947666T>G | CA409231427 | PCIF1 | c.2026T>G (p.Ser676Ala) c.967T>G c.982T>G (p.Ser328Ala) | |
| 20 | g.45947667C>A | CA409231428 | PCIF1 | c.2027C>A (p.Ser676Tyr) c.968C>A c.983C>A (p.Ser328Tyr) | |
| 20 | g.45947667C>G | CA409231429 | PCIF1 | c.2027C>G (p.Ser676Cys) c.968C>G c.983C>G (p.Ser328Cys) | gnomAD v4 |
| 20 | g.45947667C>T | CA409231430 | PCIF1 | c.2027C>T (p.Ser676Phe) c.968C>T c.983C>T (p.Ser328Phe) | |
| 20 | g.45947668T>A | CA510753732 | PCIF1 | c.2028T>A (p.Ser676=) c.969T>A c.984T>A (p.Ser328=) | |
| 20 | g.45947668T>C | CA510753733 | PCIF1 | c.2028T>C (p.Ser676=) c.969T>C c.984T>C (p.Ser328=) | |
| 20 | g.45947668T>G | CA510753734 | PCIF1 | c.2028T>G (p.Ser676=) c.969T>G c.984T>G (p.Ser328=) | |
| 20 | g.45947669G>A | CA409231431 | PCIF1 | c.2029G>A (p.Gly677Ser) c.970G>A c.985G>A (p.Gly329Ser) | |
| 20 | g.45947669G>C | CA409231432 | PCIF1 | c.2029G>C (p.Gly677Arg) c.970G>C c.985G>C (p.Gly329Arg) | |
| 20 | g.45947669G= | CA2366447856 | PCIF1 | c.2029G= (p.Gly677=) c.970G= c.985G= (p.Gly329=) | |
| 20 | g.45947669G>T | CA9884670 | PCIF1 | c.2029G>T (p.Gly677Cys) c.970G>T c.985G>T (p.Gly329Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947669_45947671delinsGGT | CA2366447857 | PCIF1 | c.2029_2031delinsGGT (p.Gly677=) c.970_972delinsGGT c.985_987delinsGGT (p.Gly329=) |