| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.45947491A= | CA2366447774 | PCIF1 | c.1884-33A= (n.1884-33A=) c.792A= c.840-33A= (n.840-33A=) | |
| 20 | g.45947491A>G | CA9884631 | PCIF1 | c.1884-33A>G (n.1884-33A>G) c.792A>G c.840-33A>G (n.840-33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947493C>T | CA2653107368 | PCIF1 | c.1884-31C>T (n.1884-31C>T) c.794C>T c.840-31C>T (n.840-31C>T) | gnomAD v4 |
| 20 | g.45947495_45947500dup | CA2653107367 | PCIF1 | c.1884-29_1884-24dup (n.1884-29_1884-24dup) c.796_801dup c.840-29_840-24dup (n.840-29_840-24dup) | gnomAD v4 |
| 20 | g.45947495C>T | CA2577413330 | PCIF1 | c.1884-29C>T (n.1884-29C>T) c.796C>T c.840-29C>T (n.840-29C>T) | |
| 20 | g.45947496C>A | CA636176164 | PCIF1 | c.1884-28C>A (n.1884-28C>A) c.797C>A c.840-28C>A (n.840-28C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947496C= | CA2366447775 | PCIF1 | c.1884-28C= (n.1884-28C=) c.797C= c.840-28C= (n.840-28C=) | |
| 20 | g.45947496C>T | CA2653107369 | PCIF1 | c.1884-28C>T (n.1884-28C>T) c.797C>T c.840-28C>T (n.840-28C>T) | gnomAD v4 |
| 20 | g.45947497A= | CA2366447776 | PCIF1 | c.1884-27A= (n.1884-27A=) c.798A= c.840-27A= (n.840-27A=) | |
| 20 | g.45947497A>C | CA2366447777 | PCIF1 | c.1884-27A>C (n.1884-27A>C) c.798A>C c.840-27A>C (n.840-27A>C) | dbSNP |
| 20 | g.45947498C>A | CA2366447779 | PCIF1 | c.1884-26C>A (n.1884-26C>A) c.799C>A c.840-26C>A (n.840-26C>A) | dbSNP |
| 20 | g.45947498C= | CA2366447778 | PCIF1 | c.1884-26C= (n.1884-26C=) c.799C= c.840-26C= (n.840-26C=) | |
| 20 | g.45947498C>T | CA1017930055 | PCIF1 | c.1884-26C>T (n.1884-26C>T) c.799C>T c.840-26C>T (n.840-26C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947499C>A | CA2653107370 | PCIF1 | c.1884-25C>A (n.1884-25C>A) c.800C>A c.840-25C>A (n.840-25C>A) | gnomAD v4 |
| 20 | g.45947499C= | CA2366447780 | PCIF1 | c.1884-25C= (n.1884-25C=) c.800C= c.840-25C= (n.840-25C=) | |
| 20 | g.45947499C>T | CA9884632 | PCIF1 | c.1884-25C>T (n.1884-25C>T) c.800C>T c.840-25C>T (n.840-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947499_45947501delinsCCT | CA2366447781 | PCIF1 | c.1884-25_1884-23delinsCCT (n.1884-25_1884-23delinsCCT) c.800_802delinsCCT c.840-25_840-23delinsCCT (n.840-25_840-23delinsCCT) | |
| 20 | g.45947500C= | CA2366447782 | PCIF1 | c.1884-24C= (n.1884-24C=) c.801C= c.840-24C= (n.840-24C=) | |
| 20 | g.45947500C>G | CA1017930061 | PCIF1 | c.1884-24C>G (n.1884-24C>G) c.801C>G c.840-24C>G (n.840-24C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947500_45947501del | CA636176165 | PCIF1 | c.1884-24_1884-23del (n.1884-24_1884-23del) c.801_802del c.840-24_840-23del (n.840-24_840-23del) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947501T>C | CA315641005 | PCIF1 | c.1884-23T>C (n.1884-23T>C) c.802T>C c.840-23T>C (n.840-23T>C) | dbSNP |
| 20 | g.45947501T>G | CA2577413331 | PCIF1 | c.1884-23T>G (n.1884-23T>G) c.802T>G c.840-23T>G (n.840-23T>G) | |
| 20 | g.45947501T= | CA2366447783 | PCIF1 | c.1884-23T= (n.1884-23T=) c.802T= c.840-23T= (n.840-23T=) | |
| 20 | g.45947504G>A | CA9884633 | PCIF1 | c.1884-20G>A (n.1884-20G>A) c.805G>A c.840-20G>A (n.840-20G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947504G= | CA2366447784 | PCIF1 | c.1884-20G= (n.1884-20G=) c.805G= c.840-20G= (n.840-20G=) | |
| 20 | g.45947504G>T | CA1017930068 | PCIF1 | c.1884-20G>T (n.1884-20G>T) c.805G>T c.840-20G>T (n.840-20G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.45947507A>G | CA2577413332 | PCIF1 | c.1884-17A>G (n.1884-17A>G) c.808A>G c.840-17A>G (n.840-17A>G) | gnomAD v4 |
| 20 | g.45947508T>C | CA9884634 | PCIF1 | c.1884-16T>C (n.1884-16T>C) c.809T>C c.840-16T>C (n.840-16T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947508T= | CA2366447785 | PCIF1 | c.1884-16T= (n.1884-16T=) c.809T= c.840-16T= (n.840-16T=) | |
| 20 | g.45947511C>A | CA9884635 | PCIF1 | c.1884-13C>A (n.1884-13C>A) c.812C>A c.840-13C>A (n.840-13C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947511C= | CA2366447786 | PCIF1 | c.1884-13C= (n.1884-13C=) c.812C= c.840-13C= (n.840-13C=) | |
| 20 | g.45947511C>T | CA2653107371 | PCIF1 | c.1884-13C>T (n.1884-13C>T) c.812C>T c.840-13C>T (n.840-13C>T) | gnomAD v4 |
| 20 | g.45947512C>A | CA9884636 | PCIF1 | c.1884-12C>A (n.1884-12C>A) c.813C>A c.840-12C>A (n.840-12C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947512C= | CA2366447787 | PCIF1 | c.1884-12C= (n.1884-12C=) c.813C= c.840-12C= (n.840-12C=) | |
| 20 | g.45947512C>T | CA2366447788 | PCIF1 | c.1884-12C>T (n.1884-12C>T) c.813C>T c.840-12C>T (n.840-12C>T) | dbSNP gnomAD v4 |
| 20 | g.45947514T>G | CA2653107373 | PCIF1 | c.1884-10T>G (n.1884-10T>G) c.815T>G c.840-10T>G (n.840-10T>G) | gnomAD v4 |
| 20 | g.45947516G>T | CA2653107374 | PCIF1 | c.1884-8G>T (n.1884-8G>T) c.817G>T c.840-8G>T (n.840-8G>T) | gnomAD v4 |
| 20 | g.45947519C= | CA2366447789 | PCIF1 | c.1884-5C= (n.1884-5C=) c.820C= c.840-5C= (n.840-5C=) | |
| 20 | g.45947519C>T | CA9884637 | PCIF1 | c.1884-5C>T (n.1884-5C>T) c.820C>T c.840-5C>T (n.840-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947520G>A | CA9884638 | PCIF1 | c.1884-4G>A (n.1884-4G>A) c.821G>A c.840-4G>A (n.840-4G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947520G= | CA2366447790 | PCIF1 | c.1884-4G= (n.1884-4G=) c.821G= c.840-4G= (n.840-4G=) | |
| 20 | g.45947522A>C | CA409231091 | PCIF1 | c.1884-2A>C (n.1884-2A>C) c.823A>C c.840-2A>C (n.840-2A>C) | |
| 20 | g.45947522A>G | CA409231093 | PCIF1 | c.1884-2A>G (n.1884-2A>G) c.823A>G c.840-2A>G (n.840-2A>G) | |
| 20 | g.45947522A>T | CA409231095 | PCIF1 | c.1884-2A>T (n.1884-2A>T) c.823A>T c.840-2A>T (n.840-2A>T) | |
| 20 | g.45947523G>A | CA409231101 | PCIF1 | c.1884-1G>A (n.1884-1G>A) c.824G>A c.840-1G>A (n.840-1G>A) | |
| 20 | g.45947523G>C | CA409231097 | PCIF1 | c.1884-1G>C (n.1884-1G>C) c.824G>C c.840-1G>C (n.840-1G>C) | |
| 20 | g.45947523G>T | CA409231099 | PCIF1 | c.1884-1G>T (n.1884-1G>T) c.824G>T c.840-1G>T (n.840-1G>T) | |
| 20 | g.45947524G>A | CA510753577 | PCIF1 | c.1884G>A (p.Lys628=) c.825G>A c.840G>A (p.Lys280=) | gnomAD v4 |
| 20 | g.45947524G>C | CA409231104 | PCIF1 | c.1884G>C (p.Lys628Asn) c.825G>C c.840G>C (p.Lys280Asn) | |
| 20 | g.45947524G>T | CA409231105 | PCIF1 | c.1884G>T (p.Lys628Asn) c.825G>T c.840G>T (p.Lys280Asn) | |
| 20 | g.45947525G>A | CA409231107 | PCIF1 | c.1885G>A (p.Glu629Lys) c.826G>A c.841G>A (p.Glu281Lys) | |
| 20 | g.45947525G>C | CA409231109 | PCIF1 | c.1885G>C (p.Glu629Gln) c.826G>C c.841G>C (p.Glu281Gln) | |
| 20 | g.45947525G>T | CA409231112 | PCIF1 | c.1885G>T (p.Glu629Ter) c.826G>T c.841G>T (p.Glu281Ter) | |
| 20 | g.45947526A>C | CA409231118 | PCIF1 | c.1886A>C (p.Glu629Ala) c.827A>C c.842A>C (p.Glu281Ala) | |
| 20 | g.45947526A>G | CA409231115 | PCIF1 | c.1886A>G (p.Glu629Gly) c.827A>G c.842A>G (p.Glu281Gly) | |
| 20 | g.45947526A>T | CA409231116 | PCIF1 | c.1886A>T (p.Glu629Val) c.827A>T c.842A>T (p.Glu281Val) | |
| 20 | g.45947527G>A | CA510753578 | PCIF1 | c.1887G>A (p.Glu629=) c.828G>A c.843G>A (p.Glu281=) | |
| 20 | g.45947527G>C | CA409231121 | PCIF1 | c.1887G>C (p.Glu629Asp) c.828G>C c.843G>C (p.Glu281Asp) | |
| 20 | g.45947527G>T | CA409231122 | PCIF1 | c.1887G>T (p.Glu629Asp) c.828G>T c.843G>T (p.Glu281Asp) | |
| 20 | g.45947528G>A | CA409231125 | PCIF1 | c.1888G>A (p.Glu630Lys) c.829G>A c.844G>A (p.Glu282Lys) | |
| 20 | g.45947528G>C | CA409231126 | PCIF1 | c.1888G>C (p.Glu630Gln) c.829G>C c.844G>C (p.Glu282Gln) | |
| 20 | g.45947528G>T | CA409231128 | PCIF1 | c.1888G>T (p.Glu630Ter) c.829G>T c.844G>T (p.Glu282Ter) | |
| 20 | g.45947529A>C | CA409231131 | PCIF1 | c.1889A>C (p.Glu630Ala) c.830A>C c.845A>C (p.Glu282Ala) | |
| 20 | g.45947529A>G | CA409231132 | PCIF1 | c.1889A>G (p.Glu630Gly) c.830A>G c.845A>G (p.Glu282Gly) | |
| 20 | g.45947529A>T | CA409231133 | PCIF1 | c.1889A>T (p.Glu630Val) c.830A>T c.845A>T (p.Glu282Val) | |
| 20 | g.45947530A>C | CA409231134 | PCIF1 | c.1890A>C (p.Glu630Asp) c.831A>C c.846A>C (p.Glu282Asp) | |
| 20 | g.45947530A>G | CA510753581 | PCIF1 | c.1890A>G (p.Glu630=) c.831A>G c.846A>G (p.Glu282=) | |
| 20 | g.45947530A>T | CA409231135 | PCIF1 | c.1890A>T (p.Glu630Asp) c.831A>T c.846A>T (p.Glu282Asp) | |
| 20 | g.45947531A>C | CA409231136 | PCIF1 | c.1891A>C (p.Met631Leu) c.832A>C c.847A>C (p.Met283Leu) | |
| 20 | g.45947531A>G | CA409231137 | PCIF1 | c.1891A>G (p.Met631Val) c.832A>G c.847A>G (p.Met283Val) | |
| 20 | g.45947531A>T | CA409231138 | PCIF1 | c.1891A>T (p.Met631Leu) c.832A>T c.847A>T (p.Met283Leu) | |
| 20 | g.45947532T>A | CA409231139 | PCIF1 | c.1892T>A (p.Met631Lys) c.833T>A c.848T>A (p.Met283Lys) | |
| 20 | g.45947532T>C | CA409231141 | PCIF1 | c.1892T>C (p.Met631Thr) c.833T>C c.848T>C (p.Met283Thr) | |
| 20 | g.45947532T>G | CA409231140 | PCIF1 | c.1892T>G (p.Met631Arg) c.833T>G c.848T>G (p.Met283Arg) | |
| 20 | g.45947533G>A | CA409231142 | PCIF1 | c.1893G>A (p.Met631Ile) c.834G>A c.849G>A (p.Met283Ile) | dbSNP gnomAD v4 |
| 20 | g.45947533G>C | CA409231143 | PCIF1 | c.1893G>C (p.Met631Ile) c.834G>C c.849G>C (p.Met283Ile) | |
| 20 | g.45947533G= | CA2366447791 | PCIF1 | c.1893G= (p.Met631=) c.834G= c.849G= (p.Met283=) | |
| 20 | g.45947533G>T | CA409231144 | PCIF1 | c.1893G>T (p.Met631Ile) c.834G>T c.849G>T (p.Met283Ile) | |
| 20 | g.45947534C>A | CA409231145 | PCIF1 | c.1894C>A (p.His632Asn) c.835C>A c.850C>A (p.His284Asn) | |
| 20 | g.45947534C= | CA2366447792 | PCIF1 | c.1894C= (p.His632=) c.835C= c.850C= (p.His284=) | |
| 20 | g.45947534C>G | CA409231146 | PCIF1 | c.1894C>G (p.His632Asp) c.835C>G c.850C>G (p.His284Asp) | |
| 20 | g.45947534C>T | CA409231147 | PCIF1 | c.1894C>T (p.His632Tyr) c.835C>T c.850C>T (p.His284Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947535A= | CA2366447793 | PCIF1 | c.1895A= (p.His632=) c.836A= c.851A= (p.His284=) | |
| 20 | g.45947535A>C | CA409231148 | PCIF1 | c.1895A>C (p.His632Pro) c.836A>C c.851A>C (p.His284Pro) | |
| 20 | g.45947535A>G | CA409231149 | PCIF1 | c.1895A>G (p.His632Arg) c.836A>G c.851A>G (p.His284Arg) | dbSNP |
| 20 | g.45947535A>T | CA409231150 | PCIF1 | c.1895A>T (p.His632Leu) c.836A>T c.851A>T (p.His284Leu) | |
| 20 | g.45947536C>A | CA409231151 | PCIF1 | c.1896C>A (p.His632Gln) c.837C>A c.852C>A (p.His284Gln) | |
| 20 | g.45947536C= | CA2366447794 | PCIF1 | c.1896C= (p.His632=) c.837C= c.852C= (p.His284=) | |
| 20 | g.45947536C>G | CA409231152 | PCIF1 | c.1896C>G (p.His632Gln) c.837C>G c.852C>G (p.His284Gln) | |
| 20 | g.45947536C>T | CA315641017 | PCIF1 | c.1896C>T (p.His632=) c.837C>T c.852C>T (p.His284=) | dbSNP |
| 20 | g.45947537T>A | CA409231155 | PCIF1 | c.1897T>A (p.Tyr633Asn) c.838T>A c.853T>A (p.Tyr285Asn) | |
| 20 | g.45947537T>C | CA409231154 | PCIF1 | c.1897T>C (p.Tyr633His) c.838T>C c.853T>C (p.Tyr285His) | dbSNP |
| 20 | g.45947537T>G | CA409231153 | PCIF1 | c.1897T>G (p.Tyr633Asp) c.838T>G c.853T>G (p.Tyr285Asp) | |
| 20 | g.45947537T= | CA2366447795 | PCIF1 | c.1897T= (p.Tyr633=) c.838T= c.853T= (p.Tyr285=) | |
| 20 | g.45947538A= | CA2366447796 | PCIF1 | c.1898A= (p.Tyr633=) c.839A= c.854A= (p.Tyr285=) | |
| 20 | g.45947538A>C | CA409231156 | PCIF1 | c.1898A>C (p.Tyr633Ser) c.839A>C c.854A>C (p.Tyr285Ser) | dbSNP |
| 20 | g.45947538A>G | CA409231157 | PCIF1 | c.1898A>G (p.Tyr633Cys) c.839A>G c.854A>G (p.Tyr285Cys) | |
| 20 | g.45947538A>T | CA409231158 | PCIF1 | c.1898A>T (p.Tyr633Phe) c.839A>T c.854A>T (p.Tyr285Phe) | |
| 20 | g.45947539C>A | CA409231159 | PCIF1 | c.1899C>A (p.Tyr633Ter) c.840C>A c.855C>A (p.Tyr285Ter) | |
| 20 | g.45947539C>G | CA409231160 | PCIF1 | c.1899C>G (p.Tyr633Ter) c.840C>G c.855C>G (p.Tyr285Ter) | |
| 20 | g.45947539C>T | CA510753585 | PCIF1 | c.1899C>T (p.Tyr633=) c.840C>T c.855C>T (p.Tyr285=) | |
| 20 | g.45947540A>C | CA409231161 | PCIF1 | c.1900A>C (p.Lys634Gln) c.841A>C c.856A>C (p.Lys286Gln) | |
| 20 | g.45947540A>G | CA409231162 | PCIF1 | c.1900A>G (p.Lys634Glu) c.841A>G c.856A>G (p.Lys286Glu) | gnomAD v4 |
| 20 | g.45947540A>T | CA409231163 | PCIF1 | c.1900A>T (p.Lys634Ter) c.841A>T c.856A>T (p.Lys286Ter) | |
| 20 | g.45947541A>C | CA409231164 | PCIF1 | c.1901A>C (p.Lys634Thr) c.842A>C c.857A>C (p.Lys286Thr) | |
| 20 | g.45947541A>G | CA409231165 | PCIF1 | c.1901A>G (p.Lys634Arg) c.842A>G c.857A>G (p.Lys286Arg) | |
| 20 | g.45947541A>T | CA409231166 | PCIF1 | c.1901A>T (p.Lys634Met) c.842A>T c.857A>T (p.Lys286Met) | |
| 20 | g.45947542G>A | CA510753587 | PCIF1 | c.1902G>A (p.Lys634=) c.843G>A c.858G>A (p.Lys286=) | gnomAD v4 |
| 20 | g.45947542G>C | CA409231167 | PCIF1 | c.1902G>C (p.Lys634Asn) c.843G>C c.858G>C (p.Lys286Asn) | |
| 20 | g.45947542G>T | CA409231168 | PCIF1 | c.1902G>T (p.Lys634Asn) c.843G>T c.858G>T (p.Lys286Asn) | |
| 20 | g.45947543G>A | CA409231171 | PCIF1 | c.1903G>A (p.Ala635Thr) c.844G>A c.859G>A (p.Ala287Thr) | |
| 20 | g.45947543G>C | CA409231170 | PCIF1 | c.1903G>C (p.Ala635Pro) c.844G>C c.859G>C (p.Ala287Pro) | |
| 20 | g.45947543G>T | CA409231169 | PCIF1 | c.1903G>T (p.Ala635Ser) c.844G>T c.859G>T (p.Ala287Ser) | |
| 20 | g.45947544C>A | CA409231173 | PCIF1 | c.1904C>A (p.Ala635Asp) c.845C>A c.860C>A (p.Ala287Asp) | |
| 20 | g.45947544C>G | CA409231172 | PCIF1 | c.1904C>G (p.Ala635Gly) c.845C>G c.860C>G (p.Ala287Gly) | gnomAD v4 |
| 20 | g.45947544C>T | CA409231174 | PCIF1 | c.1904C>T (p.Ala635Val) c.845C>T c.860C>T (p.Ala287Val) | |
| 20 | g.45947545C>A | CA510753588 | PCIF1 | c.1905C>A (p.Ala635=) c.846C>A c.861C>A (p.Ala287=) | |
| 20 | g.45947545C= | CA2366447797 | PCIF1 | c.1905C= (p.Ala635=) c.846C= c.861C= (p.Ala287=) | |
| 20 | g.45947545C>G | CA510753589 | PCIF1 | c.1905C>G (p.Ala635=) c.846C>G c.861C>G (p.Ala287=) | |
| 20 | g.45947545C>T | CA9884639 | PCIF1 | c.1905C>T (p.Ala635=) c.846C>T c.861C>T (p.Ala287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947546G>A | CA9884640 | PCIF1 | c.1906G>A (p.Val636Ile) c.847G>A c.862G>A (p.Val288Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947546G>C | CA409231175 | PCIF1 | c.1906G>C (p.Val636Leu) c.847G>C c.862G>C (p.Val288Leu) | |
| 20 | g.45947546G= | CA2366447798 | PCIF1 | c.1906G= (p.Val636=) c.847G= c.862G= (p.Val288=) | |
| 20 | g.45947546G>T | CA409231176 | PCIF1 | c.1906G>T (p.Val636Phe) c.847G>T c.862G>T (p.Val288Phe) | dbSNP |
| 20 | g.45947547T>A | CA409231177 | PCIF1 | c.1907T>A (p.Val636Asp) c.848T>A c.863T>A (p.Val288Asp) | |
| 20 | g.45947547T>C | CA409231178 | PCIF1 | c.1907T>C (p.Val636Ala) c.848T>C c.863T>C (p.Val288Ala) | |
| 20 | g.45947547T>G | CA409231179 | PCIF1 | c.1907T>G (p.Val636Gly) c.848T>G c.863T>G (p.Val288Gly) | |
| 20 | g.45947548C>A | CA510753590 | PCIF1 | c.1908C>A (p.Val636=) c.849C>A c.864C>A (p.Val288=) | |
| 20 | g.45947548C= | CA2366447799 | PCIF1 | c.1908C= (p.Val636=) c.849C= c.864C= (p.Val288=) | |
| 20 | g.45947548C>G | CA510753591 | PCIF1 | c.1908C>G (p.Val636=) c.849C>G c.864C>G (p.Val288=) | COSMIC |
| 20 | g.45947548C>T | CA510753592 | PCIF1 | c.1908C>T (p.Val636=) c.849C>T c.864C>T (p.Val288=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947549C>A | CA409231180 | PCIF1 | c.1909C>A (p.His637Asn) c.850C>A c.865C>A (p.His289Asn) | |
| 20 | g.45947549C>G | CA409231181 | PCIF1 | c.1909C>G (p.His637Asp) c.850C>G c.865C>G (p.His289Asp) | |
| 20 | g.45947549C>T | CA409231182 | PCIF1 | c.1909C>T (p.His637Tyr) c.850C>T c.865C>T (p.His289Tyr) | gnomAD v4 |
| 20 | g.45947550A>C | CA409231183 | PCIF1 | c.1910A>C (p.His637Pro) c.851A>C c.866A>C (p.His289Pro) | |
| 20 | g.45947550A>G | CA409231184 | PCIF1 | c.1910A>G (p.His637Arg) c.851A>G c.866A>G (p.His289Arg) | |
| 20 | g.45947550A>T | CA409231185 | PCIF1 | c.1910A>T (p.His637Leu) c.851A>T c.866A>T (p.His289Leu) | |
| 20 | g.45947551C>A | CA409231186 | PCIF1 | c.1911C>A (p.His637Gln) c.852C>A c.867C>A (p.His289Gln) | |
| 20 | g.45947551C>G | CA409231187 | PCIF1 | c.1911C>G (p.His637Gln) c.852C>G c.867C>G (p.His289Gln) | |
| 20 | g.45947551C>T | CA510753593 | PCIF1 | c.1911C>T (p.His637=) c.852C>T c.867C>T (p.His289=) | gnomAD v4 |
| 20 | g.45947552A= | CA2366447800 | PCIF1 | c.1912A= (p.Asn638=) c.853A= c.868A= (p.Asn290=) | |
| 20 | g.45947552A>C | CA409231188 | PCIF1 | c.1912A>C (p.Asn638His) c.853A>C c.868A>C (p.Asn290His) | |
| 20 | g.45947552A>G | CA9884641 | PCIF1 | c.1912A>G (p.Asn638Asp) c.853A>G c.868A>G (p.Asn290Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947552A>T | CA409231189 | PCIF1 | c.1912A>T (p.Asn638Tyr) c.853A>T c.868A>T (p.Asn290Tyr) | |
| 20 | g.45947553A= | CA2366447801 | PCIF1 | c.1913A= (p.Asn638=) c.854A= c.869A= (p.Asn290=) | |
| 20 | g.45947553A>C | CA409231190 | PCIF1 | c.1913A>C (p.Asn638Thr) c.854A>C c.869A>C (p.Asn290Thr) | |
| 20 | g.45947553A>G | CA9884642 | PCIF1 | c.1913A>G (p.Asn638Ser) c.854A>G c.869A>G (p.Asn290Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947553A>T | CA409231191 | PCIF1 | c.1913A>T (p.Asn638Ile) c.854A>T c.869A>T (p.Asn290Ile) | |
| 20 | g.45947554C>A | CA409231192 | PCIF1 | c.1914C>A (p.Asn638Lys) c.855C>A c.870C>A (p.Asn290Lys) | |
| 20 | g.45947554C>G | CA409231193 | PCIF1 | c.1914C>G (p.Asn638Lys) c.855C>G c.870C>G (p.Asn290Lys) | |
| 20 | g.45947554C>T | CA510753594 | PCIF1 | c.1914C>T (p.Asn638=) c.855C>T c.870C>T (p.Asn290=) | |
| 20 | g.45947555A>C | CA409231194 | PCIF1 | c.1915A>C (p.Thr639Pro) c.856A>C c.871A>C (p.Thr291Pro) | |
| 20 | g.45947555A>G | CA409231195 | PCIF1 | c.1915A>G (p.Thr639Ala) c.856A>G c.871A>G (p.Thr291Ala) | |
| 20 | g.45947555A>T | CA409231196 | PCIF1 | c.1915A>T (p.Thr639Ser) c.856A>T c.871A>T (p.Thr291Ser) | |
| 20 | g.45947556C>A | CA409231197 | PCIF1 | c.1916C>A (p.Thr639Lys) c.857C>A c.872C>A (p.Thr291Lys) | |
| 20 | g.45947556C= | CA2366447802 | PCIF1 | c.1916C= (p.Thr639=) c.857C= c.872C= (p.Thr291=) | |
| 20 | g.45947556C>G | CA409231198 | PCIF1 | c.1916C>G (p.Thr639Arg) c.857C>G c.872C>G (p.Thr291Arg) | |
| 20 | g.45947556C>T | CA315641031 | PCIF1 | c.1916C>T (p.Thr639Met) c.857C>T c.872C>T (p.Thr291Met) | dbSNP gnomAD v4 |
| 20 | g.45947557G>A | CA315641041 | PCIF1 | c.1917G>A (p.Thr639=) c.858G>A c.873G>A (p.Thr291=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947557G>C | CA510753596 | PCIF1 | c.1917G>C (p.Thr639=) c.858G>C c.873G>C (p.Thr291=) | gnomAD v4 |
| 20 | g.45947557G= | CA2366447803 | PCIF1 | c.1917G= (p.Thr639=) c.858G= c.873G= (p.Thr291=) | |
| 20 | g.45947557G>T | CA510753595 | PCIF1 | c.1917G>T (p.Thr639=) c.858G>T c.873G>T (p.Thr291=) | gnomAD v4 |
| 20 | g.45947558G>A | CA409231200 | PCIF1 | c.1918G>A (p.Ala640Thr) c.859G>A c.874G>A (p.Ala292Thr) | |
| 20 | g.45947558G>C | CA9884643 | PCIF1 | c.1918G>C (p.Ala640Pro) c.859G>C c.874G>C (p.Ala292Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947558G= | CA2366447804 | PCIF1 | c.1918G= (p.Ala640=) c.859G= c.874G= (p.Ala292=) | |
| 20 | g.45947558G>T | CA409231199 | PCIF1 | c.1918G>T (p.Ala640Ser) c.859G>T c.874G>T (p.Ala292Ser) | |
| 20 | g.45947559C>A | CA409231201 | PCIF1 | c.1919C>A (p.Ala640Asp) c.860C>A c.875C>A (p.Ala292Asp) | |
| 20 | g.45947559C>G | CA409231202 | PCIF1 | c.1919C>G (p.Ala640Gly) c.860C>G c.875C>G (p.Ala292Gly) | |
| 20 | g.45947559C>T | CA409231203 | PCIF1 | c.1919C>T (p.Ala640Val) c.860C>T c.875C>T (p.Ala292Val) | |
| 20 | g.45947560T>A | CA510753597 | PCIF1 | c.1920T>A (p.Ala640=) c.861T>A c.876T>A (p.Ala292=) | |
| 20 | g.45947560T>C | CA9884644 | PCIF1 | c.1920T>C (p.Ala640=) c.861T>C c.876T>C (p.Ala292=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.45947560T>G | CA510753598 | PCIF1 | c.1920T>G (p.Ala640=) c.861T>G c.876T>G (p.Ala292=) | |
| 20 | g.45947560T= | CA2366447805 | PCIF1 | c.1920T= (p.Ala640=) c.861T= c.876T= (p.Ala292=) | |
| 20 | g.45947561G>A | CA409231204 | PCIF1 | c.1921G>A (p.Val641Met) c.862G>A c.877G>A (p.Val293Met) | |
| 20 | g.45947561G>C | CA409231205 | PCIF1 | c.1921G>C (p.Val641Leu) c.862G>C c.877G>C (p.Val293Leu) | |
| 20 | g.45947561G>T | CA409231206 | PCIF1 | c.1921G>T (p.Val641Leu) c.862G>T c.877G>T (p.Val293Leu) | |
| 20 | g.45947562T>A | CA409231207 | PCIF1 | c.1922T>A (p.Val641Glu) c.863T>A c.878T>A (p.Val293Glu) | |
| 20 | g.45947562T>C | CA409231208 | PCIF1 | c.1922T>C (p.Val641Ala) c.863T>C c.878T>C (p.Val293Ala) | |
| 20 | g.45947562T>G | CA9884645 | PCIF1 | c.1922T>G (p.Val641Gly) c.863T>G c.878T>G (p.Val293Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947562T= | CA2366447806 | PCIF1 | c.1922T= (p.Val641=) c.863T= c.878T= (p.Val293=) | |
| 20 | g.45947563G>A | CA510753599 | PCIF1 | c.1923G>A (p.Val641=) c.864G>A c.879G>A (p.Val293=) | |
| 20 | g.45947563G>C | CA510753601 | PCIF1 | c.1923G>C (p.Val641=) c.864G>C c.879G>C (p.Val293=) | gnomAD v4 |
| 20 | g.45947563G>T | CA510753600 | PCIF1 | c.1923G>T (p.Val641=) c.864G>T c.879G>T (p.Val293=) | |
| 20 | g.45947564C>A | CA409231210 | PCIF1 | c.1924C>A (p.Leu642Ile) c.865C>A c.880C>A (p.Leu294Ile) | |
| 20 | g.45947564C= | CA2366447807 | PCIF1 | c.1924C= (p.Leu642=) c.865C= c.880C= (p.Leu294=) | |
| 20 | g.45947564C>G | CA9884646 | PCIF1 | c.1924C>G (p.Leu642Val) c.865C>G c.880C>G (p.Leu294Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947564C>T | CA409231209 | PCIF1 | c.1924C>T (p.Leu642Phe) c.865C>T c.880C>T (p.Leu294Phe) | gnomAD v4 |
| 20 | g.45947565T>A | CA409231211 | PCIF1 | c.1925T>A (p.Leu642His) c.866T>A c.881T>A (p.Leu294His) | |
| 20 | g.45947565T>C | CA409231212 | PCIF1 | c.1925T>C (p.Leu642Pro) c.866T>C c.881T>C (p.Leu294Pro) | |
| 20 | g.45947565T>G | CA409231213 | PCIF1 | c.1925T>G (p.Leu642Arg) c.866T>G c.881T>G (p.Leu294Arg) | |
| 20 | g.45947566C>A | CA510753602 | PCIF1 | c.1926C>A (p.Leu642=) c.867C>A c.882C>A (p.Leu294=) | |
| 20 | g.45947566C= | CA2366447808 | PCIF1 | c.1926C= (p.Leu642=) c.867C= c.882C= (p.Leu294=) | |
| 20 | g.45947566C>G | CA510753604 | PCIF1 | c.1926C>G (p.Leu642=) c.867C>G c.882C>G (p.Leu294=) | dbSNP |
| 20 | g.45947566C>T | CA510753603 | PCIF1 | c.1926C>T (p.Leu642=) c.867C>T c.882C>T (p.Leu294=) | |
| 20 | g.45947567T>A | CA409231214 | PCIF1 | c.1927T>A (p.Phe643Ile) c.868T>A c.883T>A (p.Phe295Ile) | |
| 20 | g.45947567T>C | CA409231215 | PCIF1 | c.1927T>C (p.Phe643Leu) c.868T>C c.883T>C (p.Phe295Leu) | |
| 20 | g.45947567T>G | CA409231216 | PCIF1 | c.1927T>G (p.Phe643Val) c.868T>G c.883T>G (p.Phe295Val) | |
| 20 | g.45947568T>A | CA409231217 | PCIF1 | c.1928T>A (p.Phe643Tyr) c.869T>A c.884T>A (p.Phe295Tyr) | |
| 20 | g.45947568T>C | CA409231218 | PCIF1 | c.1928T>C (p.Phe643Ser) c.869T>C c.884T>C (p.Phe295Ser) | |
| 20 | g.45947568T>G | CA409231219 | PCIF1 | c.1928T>G (p.Phe643Cys) c.869T>G c.884T>G (p.Phe295Cys) | |
| 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) |