| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 20 | g.45947670G>A | CA409231433 | PCIF1 | c.2030G>A (p.Gly677Asp) c.971G>A c.986G>A (p.Gly329Asp) | |
| 20 | g.45947670G>C | CA9884671 | PCIF1 | c.2030G>C (p.Gly677Ala) c.971G>C c.986G>C (p.Gly329Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947670G= | CA2366447859 | PCIF1 | c.2030G= (p.Gly677=) c.971G= c.986G= (p.Gly329=) | |
| 20 | g.45947670G>T | CA9884672 | PCIF1 | c.2030G>T (p.Gly677Val) c.971G>T c.986G>T (p.Gly329Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.45947670_45947671del | CA2366447858 | PCIF1 | c.2030_2031del (p.Gly677ValfsTer17) c.971_972del c.986_987del (p.Gly329ValfsTer17) | dbSNP |
| 20 | g.45947671T>A | CA510753742 | PCIF1 | c.2031T>A (p.Gly677=) c.972T>A c.987T>A (p.Gly329=) | |
| 20 | g.45947671T>C | CA510753743 | PCIF1 | c.2031T>C (p.Gly677=) c.972T>C c.987T>C (p.Gly329=) | |
| 20 | g.45947671T>G | CA510753741 | PCIF1 | c.2031T>G (p.Gly677=) c.972T>G c.987T>G (p.Gly329=) | |
| 20 | g.45947672T>A | CA409231434 | PCIF1 | c.2032T>A (p.Ser678Thr) c.973T>A c.988T>A (p.Ser330Thr) | |
| 20 | g.45947672T>C | CA409231435 | PCIF1 | c.2032T>C (p.Ser678Pro) c.973T>C c.988T>C (p.Ser330Pro) | |
| 20 | g.45947672T>G | CA409231436 | PCIF1 | c.2032T>G (p.Ser678Ala) c.973T>G c.988T>G (p.Ser330Ala) | |
| 20 | g.45947673C>A | CA409231437 | PCIF1 | c.2033C>A (p.Ser678Tyr) c.974C>A c.989C>A (p.Ser330Tyr) | |
| 20 | g.45947673C= | CA2366447860 | PCIF1 | c.2033C= (p.Ser678=) c.974C= c.989C= (p.Ser330=) | |
| 20 | g.45947673C>G | CA409231438 | PCIF1 | c.2033C>G (p.Ser678Cys) c.974C>G c.989C>G (p.Ser330Cys) | |
| 20 | g.45947673C>T | CA409231439 | PCIF1 | c.2033C>T (p.Ser678Phe) c.974C>T c.989C>T (p.Ser330Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947673_45947674insGG | CA2366447861 | PCIF1 | c.2033_2034insGG (p.Ser679ValfsTer?) c.974_975insGG c.989_990insGG (p.Ser331ValfsTer?) | dbSNP |
| 20 | g.45947674T>A | CA510753747 | PCIF1 | c.2034T>A (p.Ser678=) c.975T>A c.990T>A (p.Ser330=) | |
| 20 | g.45947674T>C | CA510753746 | PCIF1 | c.2034T>C (p.Ser678=) c.975T>C c.990T>C (p.Ser330=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947674T>G | CA510753745 | PCIF1 | c.2034T>G (p.Ser678=) c.975T>G c.990T>G (p.Ser330=) | |
| 20 | g.45947674T= | CA2366447862 | PCIF1 | c.2034T= (p.Ser678=) c.975T= c.990T= (p.Ser330=) | |
| 20 | g.45947675T>A | CA409231440 | PCIF1 | c.2035T>A (p.Ser679Thr) c.976T>A c.991T>A (p.Ser331Thr) | |
| 20 | g.45947675T>C | CA409231441 | PCIF1 | c.2035T>C (p.Ser679Pro) c.976T>C c.991T>C (p.Ser331Pro) | |
| 20 | g.45947675T>G | CA409231442 | PCIF1 | c.2035T>G (p.Ser679Ala) c.976T>G c.991T>G (p.Ser331Ala) | |
| 20 | g.45947676C>A | CA409231445 | PCIF1 | c.2036C>A (p.Ser679Tyr) c.977C>A c.992C>A (p.Ser331Tyr) | |
| 20 | g.45947676C= | CA2366447863 | PCIF1 | c.2036C= (p.Ser679=) c.977C= c.992C= (p.Ser331=) | |
| 20 | g.45947676C>G | CA409231443 | PCIF1 | c.2036C>G (p.Ser679Cys) c.977C>G c.992C>G (p.Ser331Cys) | |
| 20 | g.45947676C>T | CA409231444 | PCIF1 | c.2036C>T (p.Ser679Phe) c.977C>T c.992C>T (p.Ser331Phe) | dbSNP |
| 20 | g.45947677C>A | CA510753749 | PCIF1 | c.2037C>A (p.Ser679=) c.978C>A c.993C>A (p.Ser331=) | |
| 20 | g.45947677C= | CA2366447864 | PCIF1 | c.2037C= (p.Ser679=) c.978C= c.993C= (p.Ser331=) | |
| 20 | g.45947677C>G | CA510753753 | PCIF1 | c.2037C>G (p.Ser679=) c.978C>G c.993C>G (p.Ser331=) | |
| 20 | g.45947677C>T | CA9884673 | PCIF1 | c.2037C>T (p.Ser679=) c.978C>T c.993C>T (p.Ser331=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.45947678T>A | CA409231446 | PCIF1 | c.2038T>A (p.Ser680Thr) c.979T>A c.994T>A (p.Ser332Thr) | |
| 20 | g.45947678T>C | CA409231447 | PCIF1 | c.2038T>C (p.Ser680Pro) c.979T>C c.994T>C (p.Ser332Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.45947678T>G | CA409231448 | PCIF1 | c.2038T>G (p.Ser680Ala) c.979T>G c.994T>G (p.Ser332Ala) | |
| 20 | g.45947678T= | CA2366447865 | PCIF1 | c.2038T= (p.Ser680=) c.979T= c.994T= (p.Ser332=) | |
| 20 | g.45947679C>A | CA409231449 | PCIF1 | c.2039C>A (p.Ser680Ter) c.980C>A c.995C>A (p.Ser332Ter) | |
| 20 | g.45947679C>G | CA409231450 | PCIF1 | c.2039C>G (p.Ser680Ter) c.980C>G c.995C>G (p.Ser332Ter) | |
| 20 | g.45947679C>T | CA409231451 | PCIF1 | c.2039C>T (p.Ser680Leu) c.980C>T c.995C>T (p.Ser332Leu) | |
| 20 | g.45947680A>C | CA510753754 | PCIF1 | c.2040A>C (p.Ser680=) c.981A>C c.996A>C (p.Ser332=) |