OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.16018410_16018411delinsAG | CA1440922166 | PROM1 | c.914_915delinsCT (p.Pro305=) c.*597_*598delinsCT (n.*597_*598delinsCT) c.887_888delinsCT (p.Pro296=) n.650_651delinsCT c.972_973delinsCT c.680_681delinsCT (p.Pro227=) c.707_708delinsCT (p.Pro236=) c.641_642delinsCT (p.Pro214=) | |
| 4 | g.16018411G>A | CA2866918 | PROM1 | c.914C>T (p.Pro305Leu) c.*597C>T (n.*597C>T) c.887C>T (p.Pro296Leu) n.650C>T c.972C>T c.680C>T (p.Pro227Leu) c.707C>T (p.Pro236Leu) c.641C>T (p.Pro214Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018411G>C | CA356419718 | PROM1 | c.914C>G (p.Pro305Arg) c.*597C>G (n.*597C>G) c.887C>G (p.Pro296Arg) n.650C>G c.972C>G c.680C>G (p.Pro227Arg) c.707C>G (p.Pro236Arg) c.641C>G (p.Pro214Arg) | |
| 4 | g.16018411G= | CA1440922167 | PROM1 | c.914C= (p.Pro305=) c.*597C= (n.*597C=) c.887C= (p.Pro296=) n.650C= c.972C= c.680C= (p.Pro227=) c.707C= (p.Pro236=) c.641C= (p.Pro214=) | |
| 4 | g.16018411G>T | CA356419721 | PROM1 | c.914C>A (p.Pro305His) c.*597C>A (n.*597C>A) c.887C>A (p.Pro296His) n.650C>A c.972C>A c.680C>A (p.Pro227His) c.707C>A (p.Pro236His) c.641C>A (p.Pro214His) | |
| 4 | g.16018413dup | CA2866917 | PROM1 | c.914dup (p.Leu306SerfsTer9) c.*597dup (n.*597dup) c.887dup (p.Leu297SerfsTer9) n.650dup c.972dup c.680dup (p.Leu228SerfsTer9) c.707dup (p.Leu237SerfsTer9) c.641dup (p.Leu215SerfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018413del | CA1059676883 | PROM1 | c.914del (p.Pro305LeufsTer19) c.*597del (n.*597del) c.887del (p.Pro296LeufsTer19) n.650del c.972del c.680del (p.Pro227LeufsTer19) c.707del (p.Pro236LeufsTer19) c.641del (p.Pro214LeufsTer19) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16018412G>A | CA356419725 | PROM1 | c.913C>T (p.Pro305Ser) c.*596C>T (n.*596C>T) c.886C>T (p.Pro296Ser) n.649C>T c.971C>T c.679C>T (p.Pro227Ser) c.706C>T (p.Pro236Ser) c.640C>T (p.Pro214Ser) | |
| 4 | g.16018412G>C | CA356419728 | PROM1 | c.913C>G (p.Pro305Ala) c.*596C>G (n.*596C>G) c.886C>G (p.Pro296Ala) n.649C>G c.971C>G c.679C>G (p.Pro227Ala) c.706C>G (p.Pro236Ala) c.640C>G (p.Pro214Ala) | |
| 4 | g.16018412G>T | CA356419730 | PROM1 | c.913C>A (p.Pro305Thr) c.*596C>A (n.*596C>A) c.886C>A (p.Pro296Thr) n.649C>A c.971C>A c.679C>A (p.Pro227Thr) c.706C>A (p.Pro236Thr) c.640C>A (p.Pro214Thr) | |
| 4 | g.16018413G>A | CA438381804 | PROM1 | c.912C>T (p.Asp304=) c.*595C>T (n.*595C>T) c.885C>T (p.Asp295=) n.648C>T c.970C>T c.678C>T (p.Asp226=) c.705C>T (p.Asp235=) c.639C>T (p.Asp213=) | |
| 4 | g.16018413G>C | CA356419740 | PROM1 | c.912C>G (p.Asp304Glu) c.*595C>G (n.*595C>G) c.885C>G (p.Asp295Glu) n.648C>G c.970C>G c.678C>G (p.Asp226Glu) c.705C>G (p.Asp235Glu) c.639C>G (p.Asp213Glu) | |
| 4 | g.16018413G= | CA1440922168 | PROM1 | c.912C= (p.Asp304=) c.*595C= (n.*595C=) c.885C= (p.Asp295=) n.648C= c.970C= c.678C= (p.Asp226=) c.705C= (p.Asp235=) c.639C= (p.Asp213=) | |
| 4 | g.16018413G>T | CA356419736 | PROM1 | c.912C>A (p.Asp304Glu) c.*595C>A (n.*595C>A) c.885C>A (p.Asp295Glu) n.648C>A c.970C>A c.678C>A (p.Asp226Glu) c.705C>A (p.Asp235Glu) c.639C>A (p.Asp213Glu) | dbSNP |
| 4 | g.16018414T>A | CA356419746 | PROM1 | c.911A>T (p.Asp304Val) c.*594A>T (n.*594A>T) c.884A>T (p.Asp295Val) n.647A>T c.969A>T c.677A>T (p.Asp226Val) c.704A>T (p.Asp235Val) c.638A>T (p.Asp213Val) | |
| 4 | g.16018414T>C | CA356419748 | PROM1 | c.911A>G (p.Asp304Gly) c.*594A>G (n.*594A>G) c.884A>G (p.Asp295Gly) n.647A>G c.969A>G c.677A>G (p.Asp226Gly) c.704A>G (p.Asp235Gly) c.638A>G (p.Asp213Gly) | |
| 4 | g.16018414T>G | CA356419751 | PROM1 | c.911A>C (p.Asp304Ala) c.*594A>C (n.*594A>C) c.884A>C (p.Asp295Ala) n.647A>C c.969A>C c.677A>C (p.Asp226Ala) c.704A>C (p.Asp235Ala) c.638A>C (p.Asp213Ala) | |
| 4 | g.16018415C>A | CA356419755 | PROM1 | c.910G>T (p.Asp304Tyr) c.*593G>T (n.*593G>T) c.883G>T (p.Asp295Tyr) n.646G>T c.968G>T c.676G>T (p.Asp226Tyr) c.703G>T (p.Asp235Tyr) c.637G>T (p.Asp213Tyr) | |
| 4 | g.16018415C= | CA1440922169 | PROM1 | c.910G= (p.Asp304=) c.*593G= (n.*593G=) c.883G= (p.Asp295=) n.646G= c.968G= c.676G= (p.Asp226=) c.703G= (p.Asp235=) c.637G= (p.Asp213=) | |
| 4 | g.16018415C>G | CA356419758 | PROM1 | c.910G>C (p.Asp304His) c.*593G>C (n.*593G>C) c.883G>C (p.Asp295His) n.646G>C c.968G>C c.676G>C (p.Asp226His) c.703G>C (p.Asp235His) c.637G>C (p.Asp213His) | |
| 4 | g.16018415C>T | CA92563013 | PROM1 | c.910G>A (p.Asp304Asn) c.*593G>A (n.*593G>A) c.883G>A (p.Asp295Asn) n.646G>A c.968G>A c.676G>A (p.Asp226Asn) c.703G>A (p.Asp235Asn) c.637G>A (p.Asp213Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018416A= | CA1440922170 | PROM1 | c.909T= (p.Asn303=) c.*592T= (n.*592T=) c.882T= (p.Asn294=) n.645T= c.967T= c.675T= (p.Asn225=) c.702T= (p.Asn234=) c.636T= (p.Asn212=) | |
| 4 | g.16018416A>C | CA356419763 | PROM1 | c.909T>G (p.Asn303Lys) c.*592T>G (n.*592T>G) c.882T>G (p.Asn294Lys) n.645T>G c.967T>G c.675T>G (p.Asn225Lys) c.702T>G (p.Asn234Lys) c.636T>G (p.Asn212Lys) | |
| 4 | g.16018416A>G | CA438381807 | PROM1 | c.909T>C (p.Asn303=) c.*592T>C (n.*592T>C) c.882T>C (p.Asn294=) n.645T>C c.967T>C c.675T>C (p.Asn225=) c.702T>C (p.Asn234=) c.636T>C (p.Asn212=) | |
| 4 | g.16018416A>T | CA356419767 | PROM1 | c.909T>A (p.Asn303Lys) c.*592T>A (n.*592T>A) c.882T>A (p.Asn294Lys) n.645T>A c.967T>A c.675T>A (p.Asn225Lys) c.702T>A (p.Asn234Lys) c.636T>A (p.Asn212Lys) | dbSNP gnomAD v4 |
| 4 | g.16018417T>A | CA356419770 | PROM1 | c.908A>T (p.Asn303Ile) c.*591A>T (n.*591A>T) c.881A>T (p.Asn294Ile) n.644A>T c.966A>T c.674A>T (p.Asn225Ile) c.701A>T (p.Asn234Ile) c.635A>T (p.Asn212Ile) | |
| 4 | g.16018417T>C | CA356419773 | PROM1 | c.908A>G (p.Asn303Ser) c.*591A>G (n.*591A>G) c.881A>G (p.Asn294Ser) n.644A>G c.966A>G c.674A>G (p.Asn225Ser) c.701A>G (p.Asn234Ser) c.635A>G (p.Asn212Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018417T>G | CA356419778 | PROM1 | c.908A>C (p.Asn303Thr) c.*591A>C (n.*591A>C) c.881A>C (p.Asn294Thr) n.644A>C c.966A>C c.674A>C (p.Asn225Thr) c.701A>C (p.Asn234Thr) c.635A>C (p.Asn212Thr) | |
| 4 | g.16018417T= | CA1440922171 | PROM1 | c.908A= (p.Asn303=) c.*591A= (n.*591A=) c.881A= (p.Asn294=) n.644A= c.966A= c.674A= (p.Asn225=) c.701A= (p.Asn234=) c.635A= (p.Asn212=) | |
| 4 | g.16018418T>A | CA356419783 | PROM1 | c.907A>T (p.Asn303Tyr) c.*590A>T (n.*590A>T) c.880A>T (p.Asn294Tyr) n.643A>T c.965A>T c.673A>T (p.Asn225Tyr) c.700A>T (p.Asn234Tyr) c.634A>T (p.Asn212Tyr) | |
| 4 | g.16018418T>C | CA356419782 | PROM1 | c.907A>G (p.Asn303Asp) c.*590A>G (n.*590A>G) c.880A>G (p.Asn294Asp) n.643A>G c.965A>G c.673A>G (p.Asn225Asp) c.700A>G (p.Asn234Asp) c.634A>G (p.Asn212Asp) | gnomAD v4 |
| 4 | g.16018418T>G | CA356419780 | PROM1 | c.907A>C (p.Asn303His) c.*590A>C (n.*590A>C) c.880A>C (p.Asn294His) n.643A>C c.965A>C c.673A>C (p.Asn225His) c.700A>C (p.Asn234His) c.634A>C (p.Asn212His) | |
| 4 | g.16018419del | CA2670101034 | PROM1 | c.906del (p.Asn303MetfsTer21) c.*589del (n.*589del) c.879del (p.Asn294MetfsTer21) n.642del c.964del c.672del (p.Asn225MetfsTer21) c.699del (p.Asn234MetfsTer21) c.633del (p.Asn212MetfsTer21) | gnomAD v4 |
| 4 | g.16018419G>A | CA438381814 | PROM1 | c.906C>T (p.Leu302=) c.*589C>T (n.*589C>T) c.879C>T (p.Leu293=) n.642C>T c.964C>T c.672C>T (p.Leu224=) c.699C>T (p.Leu233=) c.633C>T (p.Leu211=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.16018419G>C | CA438381818 | PROM1 | c.906C>G (p.Leu302=) c.*589C>G (n.*589C>G) c.879C>G (p.Leu293=) n.642C>G c.964C>G c.672C>G (p.Leu224=) c.699C>G (p.Leu233=) c.633C>G (p.Leu211=) | |
| 4 | g.16018419G= | CA1440922172 | PROM1 | c.906C= (p.Leu302=) c.*589C= (n.*589C=) c.879C= (p.Leu293=) n.642C= c.964C= c.672C= (p.Leu224=) c.699C= (p.Leu233=) c.633C= (p.Leu211=) | |
| 4 | g.16018419G>T | CA438381816 | PROM1 | c.906C>A (p.Leu302=) c.*589C>A (n.*589C>A) c.879C>A (p.Leu293=) n.642C>A c.964C>A c.672C>A (p.Leu224=) c.699C>A (p.Leu233=) c.633C>A (p.Leu211=) | |
| 4 | g.16018419dup | CA2670101033 | PROM1 | c.906dup (p.Asn303GlnfsTer2) c.*589dup (n.*589dup) c.879dup (p.Asn294GlnfsTer2) n.642dup c.964dup c.672dup (p.Asn225GlnfsTer2) c.699dup (p.Asn234GlnfsTer2) c.633dup (p.Asn212GlnfsTer2) | gnomAD v4 |
| 4 | g.16018420A>C | CA356419784 | PROM1 | c.905T>G (p.Leu302Arg) c.*588T>G (n.*588T>G) c.878T>G (p.Leu293Arg) n.641T>G c.963T>G c.671T>G (p.Leu224Arg) c.698T>G (p.Leu233Arg) c.632T>G (p.Leu211Arg) | |
| 4 | g.16018420A>G | CA356419785 | PROM1 | c.905T>C (p.Leu302Pro) c.*588T>C (n.*588T>C) c.878T>C (p.Leu293Pro) n.641T>C c.963T>C c.671T>C (p.Leu224Pro) c.698T>C (p.Leu233Pro) c.632T>C (p.Leu211Pro) | |
| 4 | g.16018420A>T | CA356419786 | PROM1 | c.905T>A (p.Leu302His) c.*588T>A (n.*588T>A) c.878T>A (p.Leu293His) n.641T>A c.963T>A c.671T>A (p.Leu224His) c.698T>A (p.Leu233His) c.632T>A (p.Leu211His) | |
| 4 | g.16018421G>A | CA356419787 | PROM1 | c.904C>T (p.Leu302Phe) c.*587C>T (n.*587C>T) c.877C>T (p.Leu293Phe) n.640C>T c.962C>T c.670C>T (p.Leu224Phe) c.697C>T (p.Leu233Phe) c.631C>T (p.Leu211Phe) | |
| 4 | g.16018421G>C | CA2866919 | PROM1 | c.904C>G (p.Leu302Val) c.*587C>G (n.*587C>G) c.877C>G (p.Leu293Val) n.640C>G c.962C>G c.670C>G (p.Leu224Val) c.697C>G (p.Leu233Val) c.631C>G (p.Leu211Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018421G= | CA1440922173 | PROM1 | c.904C= (p.Leu302=) c.*587C= (n.*587C=) c.877C= (p.Leu293=) n.640C= c.962C= c.670C= (p.Leu224=) c.697C= (p.Leu233=) c.631C= (p.Leu211=) | |
| 4 | g.16018421G>T | CA356419788 | PROM1 | c.904C>A (p.Leu302Ile) c.*587C>A (n.*587C>A) c.877C>A (p.Leu293Ile) n.640C>A c.962C>A c.670C>A (p.Leu224Ile) c.697C>A (p.Leu233Ile) c.631C>A (p.Leu211Ile) | |
| 4 | g.16018422A>C | CA438381822 | PROM1 | c.903T>G (p.Ser301=) c.*586T>G (n.*586T>G) c.876T>G (p.Ser292=) n.639T>G c.961T>G c.669T>G (p.Ser223=) c.696T>G (p.Ser232=) c.630T>G (p.Ser210=) | |
| 4 | g.16018422A>G | CA438381825 | PROM1 | c.903T>C (p.Ser301=) c.*586T>C (n.*586T>C) c.876T>C (p.Ser292=) n.639T>C c.961T>C c.669T>C (p.Ser223=) c.696T>C (p.Ser232=) c.630T>C (p.Ser210=) | |
| 4 | g.16018422A>T | CA438381830 | PROM1 | c.903T>A (p.Ser301=) c.*586T>A (n.*586T>A) c.876T>A (p.Ser292=) n.639T>A c.961T>A c.669T>A (p.Ser223=) c.696T>A (p.Ser232=) c.630T>A (p.Ser210=) | |
| 4 | g.16018423G>A | CA2866920 | PROM1 | c.902C>T (p.Ser301Phe) c.*585C>T (n.*585C>T) c.875C>T (p.Ser292Phe) n.638C>T c.960C>T c.668C>T (p.Ser223Phe) c.695C>T (p.Ser232Phe) c.629C>T (p.Ser210Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16018423G>C | CA356419789 | PROM1 | c.902C>G (p.Ser301Cys) c.*585C>G (n.*585C>G) c.875C>G (p.Ser292Cys) n.638C>G c.960C>G c.668C>G (p.Ser223Cys) c.695C>G (p.Ser232Cys) c.629C>G (p.Ser210Cys) | |
| 4 | g.16018423G= | CA1440922174 | PROM1 | c.902C= (p.Ser301=) c.*585C= (n.*585C=) c.875C= (p.Ser292=) n.638C= c.960C= c.668C= (p.Ser223=) c.695C= (p.Ser232=) c.629C= (p.Ser210=) | |
| 4 | g.16018423G>T | CA356419790 | PROM1 | c.902C>A (p.Ser301Tyr) c.*585C>A (n.*585C>A) c.875C>A (p.Ser292Tyr) n.638C>A c.960C>A c.668C>A (p.Ser223Tyr) c.695C>A (p.Ser232Tyr) c.629C>A (p.Ser210Tyr) | |
| 4 | g.16018424A= | CA1440922175 | PROM1 | c.901T= (p.Ser301=) c.*584T= (n.*584T=) c.874T= (p.Ser292=) n.637T= c.959T= c.667T= (p.Ser223=) c.694T= (p.Ser232=) c.628T= (p.Ser210=) | |
| 4 | g.16018424A>C | CA356419791 | PROM1 | c.901T>G (p.Ser301Ala) c.*584T>G (n.*584T>G) c.874T>G (p.Ser292Ala) n.637T>G c.959T>G c.667T>G (p.Ser223Ala) c.694T>G (p.Ser232Ala) c.628T>G (p.Ser210Ala) | |
| 4 | g.16018424A>G | CA2866921 | PROM1 | c.901T>C (p.Ser301Pro) c.*584T>C (n.*584T>C) c.874T>C (p.Ser292Pro) n.637T>C c.959T>C c.667T>C (p.Ser223Pro) c.694T>C (p.Ser232Pro) c.628T>C (p.Ser210Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018424A>T | CA356419792 | PROM1 | c.901T>A (p.Ser301Thr) c.*584T>A (n.*584T>A) c.874T>A (p.Ser292Thr) n.637T>A c.959T>A c.667T>A (p.Ser223Thr) c.694T>A (p.Ser232Thr) c.628T>A (p.Ser210Thr) | gnomAD v4 |
| 4 | g.16018425T>A | CA2866922 | PROM1 | c.900A>T (p.Ser300=) c.*583A>T (n.*583A>T) c.873A>T (p.Ser291=) n.636A>T c.958A>T c.666A>T (p.Ser222=) c.693A>T (p.Ser231=) c.627A>T (p.Ser209=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018425T>C | CA438381835 | PROM1 | c.900A>G (p.Ser300=) c.*583A>G (n.*583A>G) c.873A>G (p.Ser291=) n.636A>G c.958A>G c.666A>G (p.Ser222=) c.693A>G (p.Ser231=) c.627A>G (p.Ser209=) | gnomAD v4 |
| 4 | g.16018425T>G | CA438381836 | PROM1 | c.900A>C (p.Ser300=) c.*583A>C (n.*583A>C) c.873A>C (p.Ser291=) n.636A>C c.958A>C c.666A>C (p.Ser222=) c.693A>C (p.Ser231=) c.627A>C (p.Ser209=) | gnomAD v4 |
| 4 | g.16018425T= | CA1440922176 | PROM1 | c.900A= (p.Ser300=) c.*583A= (n.*583A=) c.873A= (p.Ser291=) n.636A= c.958A= c.666A= (p.Ser222=) c.693A= (p.Ser231=) c.627A= (p.Ser209=) | |
| 4 | g.16018426G>A | CA356419795 | PROM1 | c.899C>T (p.Ser300Leu) c.*582C>T (n.*582C>T) c.872C>T (p.Ser291Leu) n.635C>T c.957C>T c.665C>T (p.Ser222Leu) c.692C>T (p.Ser231Leu) c.626C>T (p.Ser209Leu) | COSMIC COSMIC |
| 4 | g.16018426G>C | CA356419793 | PROM1 | c.899C>G (p.Ser300Ter) c.*582C>G (n.*582C>G) c.872C>G (p.Ser291Ter) n.635C>G c.957C>G c.665C>G (p.Ser222Ter) c.692C>G (p.Ser231Ter) c.626C>G (p.Ser209Ter) | gnomAD v4 |
| 4 | g.16018426G>T | CA356419794 | PROM1 | c.899C>A (p.Ser300Ter) c.*582C>A (n.*582C>A) c.872C>A (p.Ser291Ter) n.635C>A c.957C>A c.665C>A (p.Ser222Ter) c.692C>A (p.Ser231Ter) c.626C>A (p.Ser209Ter) | gnomAD v4 |
| 4 | g.16018427A>C | CA356419796 | PROM1 | c.898T>G (p.Ser300Ala) c.*581T>G (n.*581T>G) c.871T>G (p.Ser291Ala) n.634T>G c.956T>G c.664T>G (p.Ser222Ala) c.691T>G (p.Ser231Ala) c.625T>G (p.Ser209Ala) | |
| 4 | g.16018427A>G | CA356419797 | PROM1 | c.898T>C (p.Ser300Pro) c.*581T>C (n.*581T>C) c.871T>C (p.Ser291Pro) n.634T>C c.956T>C c.664T>C (p.Ser222Pro) c.691T>C (p.Ser231Pro) c.625T>C (p.Ser209Pro) | |
| 4 | g.16018427A>T | CA356419798 | PROM1 | c.898T>A (p.Ser300Thr) c.*581T>A (n.*581T>A) c.871T>A (p.Ser291Thr) n.634T>A c.956T>A c.664T>A (p.Ser222Thr) c.691T>A (p.Ser231Thr) c.625T>A (p.Ser209Thr) | |
| 4 | g.16018428C>A | CA438381842 | PROM1 | c.897G>T (p.Arg299=) c.*580G>T (n.*580G>T) c.870G>T (p.Arg290=) n.633G>T c.955G>T c.663G>T (p.Arg221=) c.690G>T (p.Arg230=) c.624G>T (p.Arg208=) | dbSNP |
| 4 | g.16018428C= | CA1440922177 | PROM1 | c.897G= (p.Arg299=) c.*580G= (n.*580G=) c.870G= (p.Arg290=) n.633G= c.955G= c.663G= (p.Arg221=) c.690G= (p.Arg230=) c.624G= (p.Arg208=) | |
| 4 | g.16018428C>G | CA438381843 | PROM1 | c.897G>C (p.Arg299=) c.*580G>C (n.*580G>C) c.870G>C (p.Arg290=) n.633G>C c.955G>C c.663G>C (p.Arg221=) c.690G>C (p.Arg230=) c.624G>C (p.Arg208=) | |
| 4 | g.16018428C>T | CA438381844 | PROM1 | c.897G>A (p.Arg299=) c.*580G>A (n.*580G>A) c.870G>A (p.Arg290=) n.633G>A c.955G>A c.663G>A (p.Arg221=) c.690G>A (p.Arg230=) c.624G>A (p.Arg208=) | |
| 4 | g.16018429C>A | CA356419799 | PROM1 | c.896G>T (p.Arg299Leu) c.*579G>T (n.*579G>T) c.869G>T (p.Arg290Leu) n.632G>T c.954G>T c.662G>T (p.Arg221Leu) c.689G>T (p.Arg230Leu) c.623G>T (p.Arg208Leu) | gnomAD v4 |
| 4 | g.16018429C= | CA1440922178 | PROM1 | c.896G= (p.Arg299=) c.*579G= (n.*579G=) c.869G= (p.Arg290=) n.632G= c.954G= c.662G= (p.Arg221=) c.689G= (p.Arg230=) c.623G= (p.Arg208=) | |
| 4 | g.16018429C>G | CA356419800 | PROM1 | c.896G>C (p.Arg299Pro) c.*579G>C (n.*579G>C) c.869G>C (p.Arg290Pro) n.632G>C c.954G>C c.662G>C (p.Arg221Pro) c.689G>C (p.Arg230Pro) c.623G>C (p.Arg208Pro) | |
| 4 | g.16018429C>T | CA2866923 | PROM1 | c.896G>A (p.Arg299Gln) c.*579G>A (n.*579G>A) c.869G>A (p.Arg290Gln) n.632G>A c.954G>A c.662G>A (p.Arg221Gln) c.689G>A (p.Arg230Gln) c.623G>A (p.Arg208Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16018430G>A | CA2866924 | PROM1 | c.895C>T (p.Arg299Trp) c.*578C>T (n.*578C>T) c.868C>T (p.Arg290Trp) n.631C>T c.953C>T c.661C>T (p.Arg221Trp) c.688C>T (p.Arg230Trp) c.622C>T (p.Arg208Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018430G>C | CA356419801 | PROM1 | c.895C>G (p.Arg299Gly) c.*578C>G (n.*578C>G) c.868C>G (p.Arg290Gly) n.631C>G c.953C>G c.661C>G (p.Arg221Gly) c.688C>G (p.Arg230Gly) c.622C>G (p.Arg208Gly) | |
| 4 | g.16018430G= | CA1440922179 | PROM1 | c.895C= (p.Arg299=) c.*578C= (n.*578C=) c.868C= (p.Arg290=) n.631C= c.953C= c.661C= (p.Arg221=) c.688C= (p.Arg230=) c.622C= (p.Arg208=) | |
| 4 | g.16018430G>T | CA92563041 | PROM1 | c.895C>A (p.Arg299=) c.*578C>A (n.*578C>A) c.868C>A (p.Arg290=) n.631C>A c.953C>A c.661C>A (p.Arg221=) c.688C>A (p.Arg230=) c.622C>A (p.Arg208=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16018431C>A | CA438381851 | PROM1 | c.894G>T (p.Leu298=) c.*577G>T (n.*577G>T) c.867G>T (p.Leu289=) n.630G>T c.952G>T c.660G>T (p.Leu220=) c.687G>T (p.Leu229=) c.621G>T (p.Leu207=) | |
| 4 | g.16018431C>G | CA438381852 | PROM1 | c.894G>C (p.Leu298=) c.*577G>C (n.*577G>C) c.867G>C (p.Leu289=) n.630G>C c.952G>C c.660G>C (p.Leu220=) c.687G>C (p.Leu229=) c.621G>C (p.Leu207=) | |
| 4 | g.16018431C>T | CA438381856 | PROM1 | c.894G>A (p.Leu298=) c.*577G>A (n.*577G>A) c.867G>A (p.Leu289=) n.630G>A c.952G>A c.660G>A (p.Leu220=) c.687G>A (p.Leu229=) c.621G>A (p.Leu207=) | |
| 4 | g.16018432A= | CA1440922180 | PROM1 | c.893T= (p.Leu298=) c.*576T= (n.*576T=) c.866T= (p.Leu289=) n.629T= c.951T= c.659T= (p.Leu220=) c.686T= (p.Leu229=) c.620T= (p.Leu207=) | |
| 4 | g.16018432A>C | CA356419802 | PROM1 | c.893T>G (p.Leu298Arg) c.*576T>G (n.*576T>G) c.866T>G (p.Leu289Arg) n.629T>G c.951T>G c.659T>G (p.Leu220Arg) c.686T>G (p.Leu229Arg) c.620T>G (p.Leu207Arg) | |
| 4 | g.16018432A>G | CA356419803 | PROM1 | c.893T>C (p.Leu298Pro) c.*576T>C (n.*576T>C) c.866T>C (p.Leu289Pro) n.629T>C c.951T>C c.659T>C (p.Leu220Pro) c.686T>C (p.Leu229Pro) c.620T>C (p.Leu207Pro) | dbSNP |
| 4 | g.16018432A>T | CA2866925 | PROM1 | c.893T>A (p.Leu298Gln) c.*576T>A (n.*576T>A) c.866T>A (p.Leu289Gln) n.629T>A c.951T>A c.659T>A (p.Leu220Gln) c.686T>A (p.Leu229Gln) c.620T>A (p.Leu207Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018433G>A | CA438381859 | PROM1 | c.892C>T (p.Leu298=) c.*575C>T (n.*575C>T) c.865C>T (p.Leu289=) n.628C>T c.950C>T c.658C>T (p.Leu220=) c.685C>T (p.Leu229=) c.619C>T (p.Leu207=) | |
| 4 | g.16018433G>C | CA356419804 | PROM1 | c.892C>G (p.Leu298Val) c.*575C>G (n.*575C>G) c.865C>G (p.Leu289Val) n.628C>G c.950C>G c.658C>G (p.Leu220Val) c.685C>G (p.Leu229Val) c.619C>G (p.Leu207Val) | |
| 4 | g.16018433G>T | CA356419805 | PROM1 | c.892C>A (p.Leu298Met) c.*575C>A (n.*575C>A) c.865C>A (p.Leu289Met) n.628C>A c.950C>A c.658C>A (p.Leu220Met) c.685C>A (p.Leu229Met) c.619C>A (p.Leu207Met) | |
| 4 | g.16018434del | CA2578049827 | PROM1 | c.892del (p.Leu298CysfsTer26) c.*575del (n.*575del) c.865del (p.Leu289CysfsTer26) n.628del c.950del c.658del (p.Leu220CysfsTer26) c.685del (p.Leu229CysfsTer26) c.619del (p.Leu207CysfsTer26) | |
| 4 | g.16018434G>A | CA438381861 | PROM1 | c.891C>T (p.Ser297=) c.*574C>T (n.*574C>T) c.864C>T (p.Ser288=) n.627C>T c.949C>T c.657C>T (p.Ser219=) c.684C>T (p.Ser228=) c.618C>T (p.Ser206=) | ClinVar dbSNP |
| 4 | g.16018434G>C | CA356419806 | PROM1 | c.891C>G (p.Ser297Arg) c.*574C>G (n.*574C>G) c.864C>G (p.Ser288Arg) n.627C>G c.949C>G c.657C>G (p.Ser219Arg) c.684C>G (p.Ser228Arg) c.618C>G (p.Ser206Arg) | gnomAD v4 |
| 4 | g.16018434G>T | CA356419807 | PROM1 | c.891C>A (p.Ser297Arg) c.*574C>A (n.*574C>A) c.864C>A (p.Ser288Arg) n.627C>A c.949C>A c.657C>A (p.Ser219Arg) c.684C>A (p.Ser228Arg) c.618C>A (p.Ser206Arg) | |
| 4 | g.16018435C>A | CA356419808 | PROM1 | c.890G>T (p.Ser297Ile) c.*573G>T (n.*573G>T) c.863G>T (p.Ser288Ile) n.626G>T c.948G>T c.656G>T (p.Ser219Ile) c.683G>T (p.Ser228Ile) c.617G>T (p.Ser206Ile) | |
| 4 | g.16018435C>G | CA356419809 | PROM1 | c.890G>C (p.Ser297Thr) c.*573G>C (n.*573G>C) c.863G>C (p.Ser288Thr) n.626G>C c.948G>C c.656G>C (p.Ser219Thr) c.683G>C (p.Ser228Thr) c.617G>C (p.Ser206Thr) | |
| 4 | g.16018435C>T | CA356419810 | PROM1 | c.890G>A (p.Ser297Asn) c.*573G>A (n.*573G>A) c.863G>A (p.Ser288Asn) n.626G>A c.948G>A c.656G>A (p.Ser219Asn) c.683G>A (p.Ser228Asn) c.617G>A (p.Ser206Asn) | |
| 4 | g.16018436T>A | CA356419811 | PROM1 | c.889A>T (p.Ser297Cys) c.*572A>T (n.*572A>T) c.862A>T (p.Ser288Cys) n.625A>T c.947A>T c.655A>T (p.Ser219Cys) c.682A>T (p.Ser228Cys) c.616A>T (p.Ser206Cys) | |
| 4 | g.16018436T>C | CA2866926 | PROM1 | c.889A>G (p.Ser297Gly) c.*572A>G (n.*572A>G) c.862A>G (p.Ser288Gly) n.625A>G c.947A>G c.655A>G (p.Ser219Gly) c.682A>G (p.Ser228Gly) c.616A>G (p.Ser206Gly) | dbSNP ExAC gnomAD v2 |
| 4 | g.16018436T>G | CA356419812 | PROM1 | c.889A>C (p.Ser297Arg) c.*572A>C (n.*572A>C) c.862A>C (p.Ser288Arg) n.625A>C c.947A>C c.655A>C (p.Ser219Arg) c.682A>C (p.Ser228Arg) c.616A>C (p.Ser206Arg) | |
| 4 | g.16018436T= | CA1440922181 | PROM1 | c.889A= (p.Ser297=) c.*572A= (n.*572A=) c.862A= (p.Ser288=) n.625A= c.947A= c.655A= (p.Ser219=) c.682A= (p.Ser228=) c.616A= (p.Ser206=) | |
| 4 | g.16018437A>C | CA438381865 | PROM1 | c.888T>G (p.Thr296=) c.*571T>G (n.*571T>G) c.861T>G (p.Thr287=) n.624T>G c.946T>G c.654T>G (p.Thr218=) c.681T>G (p.Thr227=) c.615T>G (p.Thr205=) | |
| 4 | g.16018437A>G | CA438381867 | PROM1 | c.888T>C (p.Thr296=) c.*571T>C (n.*571T>C) c.861T>C (p.Thr287=) n.624T>C c.946T>C c.654T>C (p.Thr218=) c.681T>C (p.Thr227=) c.615T>C (p.Thr205=) | COSMIC COSMIC |
| 4 | g.16018437A>T | CA438381869 | PROM1 | c.888T>A (p.Thr296=) c.*571T>A (n.*571T>A) c.861T>A (p.Thr287=) n.624T>A c.946T>A c.654T>A (p.Thr218=) c.681T>A (p.Thr227=) c.615T>A (p.Thr205=) | ClinVar dbSNP |
| 4 | g.16018438G>A | CA356419818 | PROM1 | c.887C>T (p.Thr296Ile) c.*570C>T (n.*570C>T) c.860C>T (p.Thr287Ile) n.623C>T c.945C>T c.653C>T (p.Thr218Ile) c.680C>T (p.Thr227Ile) c.614C>T (p.Thr205Ile) | |
| 4 | g.16018438G>C | CA356419814 | PROM1 | c.887C>G (p.Thr296Ser) c.*570C>G (n.*570C>G) c.860C>G (p.Thr287Ser) n.623C>G c.945C>G c.653C>G (p.Thr218Ser) c.680C>G (p.Thr227Ser) c.614C>G (p.Thr205Ser) | dbSNP |
| 4 | g.16018438G= | CA1440922182 | PROM1 | c.887C= (p.Thr296=) c.*570C= (n.*570C=) c.860C= (p.Thr287=) n.623C= c.945C= c.653C= (p.Thr218=) c.680C= (p.Thr227=) c.614C= (p.Thr205=) | |
| 4 | g.16018438G>T | CA356419816 | PROM1 | c.887C>A (p.Thr296Asn) c.*570C>A (n.*570C>A) c.860C>A (p.Thr287Asn) n.623C>A c.945C>A c.653C>A (p.Thr218Asn) c.680C>A (p.Thr227Asn) c.614C>A (p.Thr205Asn) | |
| 4 | g.16018439T>A | CA356419820 | PROM1 | c.886A>T (p.Thr296Ser) c.*569A>T (n.*569A>T) c.859A>T (p.Thr287Ser) n.622A>T c.944A>T c.652A>T (p.Thr218Ser) c.679A>T (p.Thr227Ser) c.613A>T (p.Thr205Ser) | |
| 4 | g.16018439T>C | CA356419821 | PROM1 | c.886A>G (p.Thr296Ala) c.*569A>G (n.*569A>G) c.859A>G (p.Thr287Ala) n.622A>G c.944A>G c.652A>G (p.Thr218Ala) c.679A>G (p.Thr227Ala) c.613A>G (p.Thr205Ala) | |
| 4 | g.16018439T>G | CA356419822 | PROM1 | c.886A>C (p.Thr296Pro) c.*569A>C (n.*569A>C) c.859A>C (p.Thr287Pro) n.622A>C c.944A>C c.652A>C (p.Thr218Pro) c.679A>C (p.Thr227Pro) c.613A>C (p.Thr205Pro) | |
| 4 | g.16018440T>A | CA356419824 | PROM1 | c.885A>T (p.Lys295Asn) c.*568A>T (n.*568A>T) c.858A>T (p.Lys286Asn) n.621A>T c.943A>T c.651A>T (p.Lys217Asn) c.678A>T (p.Lys226Asn) c.612A>T (p.Lys204Asn) | |
| 4 | g.16018440T>C | CA438381871 | PROM1 | c.885A>G (p.Lys295=) c.*568A>G (n.*568A>G) c.858A>G (p.Lys286=) n.621A>G c.943A>G c.651A>G (p.Lys217=) c.678A>G (p.Lys226=) c.612A>G (p.Lys204=) | dbSNP |
| 4 | g.16018440T>G | CA356419826 | PROM1 | c.885A>C (p.Lys295Asn) c.*568A>C (n.*568A>C) c.858A>C (p.Lys286Asn) n.621A>C c.943A>C c.651A>C (p.Lys217Asn) c.678A>C (p.Lys226Asn) c.612A>C (p.Lys204Asn) | |
| 4 | g.16018440T= | CA1440922183 | PROM1 | c.885A= (p.Lys295=) c.*568A= (n.*568A=) c.858A= (p.Lys286=) n.621A= c.943A= c.651A= (p.Lys217=) c.678A= (p.Lys226=) c.612A= (p.Lys204=) | |
| 4 | g.16018441T>A | CA356419828 | PROM1 | c.884A>T (p.Lys295Ile) c.*567A>T (n.*567A>T) c.857A>T (p.Lys286Ile) n.620A>T c.942A>T c.650A>T (p.Lys217Ile) c.677A>T (p.Lys226Ile) c.611A>T (p.Lys204Ile) | |
| 4 | g.16018441T>C | CA356419833 | PROM1 | c.884A>G (p.Lys295Arg) c.*567A>G (n.*567A>G) c.857A>G (p.Lys286Arg) n.620A>G c.942A>G c.650A>G (p.Lys217Arg) c.677A>G (p.Lys226Arg) c.611A>G (p.Lys204Arg) | |
| 4 | g.16018441T>G | CA356419830 | PROM1 | c.884A>C (p.Lys295Thr) c.*567A>C (n.*567A>C) c.857A>C (p.Lys286Thr) n.620A>C c.942A>C c.650A>C (p.Lys217Thr) c.677A>C (p.Lys226Thr) c.611A>C (p.Lys204Thr) | |
| 4 | g.16018442T>A | CA356419835 | PROM1 | c.883A>T (p.Lys295Ter) c.*566A>T (n.*566A>T) c.856A>T (p.Lys286Ter) n.619A>T c.941A>T c.649A>T (p.Lys217Ter) c.676A>T (p.Lys226Ter) c.610A>T (p.Lys204Ter) | |
| 4 | g.16018442T>C | CA356419837 | PROM1 | c.883A>G (p.Lys295Glu) c.*566A>G (n.*566A>G) c.856A>G (p.Lys286Glu) n.619A>G c.941A>G c.649A>G (p.Lys217Glu) c.676A>G (p.Lys226Glu) c.610A>G (p.Lys204Glu) | |
| 4 | g.16018442T>G | CA356419838 | PROM1 | c.883A>C (p.Lys295Gln) c.*566A>C (n.*566A>C) c.856A>C (p.Lys286Gln) n.619A>C c.941A>C c.649A>C (p.Lys217Gln) c.676A>C (p.Lys226Gln) c.610A>C (p.Lys204Gln) | |
| 4 | g.16018443C>A | CA438381874 | PROM1 | c.882G>T (p.Val294=) c.*565G>T (n.*565G>T) c.855G>T (p.Val285=) n.618G>T c.940G>T c.648G>T (p.Val216=) c.675G>T (p.Val225=) c.609G>T (p.Val203=) | |
| 4 | g.16018443C= | CA1440922184 | PROM1 | c.882G= (p.Val294=) c.*565G= (n.*565G=) c.855G= (p.Val285=) n.618G= c.940G= c.648G= (p.Val216=) c.675G= (p.Val225=) c.609G= (p.Val203=) | |
| 4 | g.16018443C>G | CA438381875 | PROM1 | c.882G>C (p.Val294=) c.*565G>C (n.*565G>C) c.855G>C (p.Val285=) n.618G>C c.940G>C c.648G>C (p.Val216=) c.675G>C (p.Val225=) c.609G>C (p.Val203=) | |
| 4 | g.16018443C>T | CA2866927 | PROM1 | c.882G>A (p.Val294=) c.*565G>A (n.*565G>A) c.855G>A (p.Val285=) n.618G>A c.940G>A c.648G>A (p.Val216=) c.675G>A (p.Val225=) c.609G>A (p.Val203=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16018444A>C | CA356419840 | PROM1 | c.881T>G (p.Val294Gly) c.*564T>G (n.*564T>G) c.854T>G (p.Val285Gly) n.617T>G c.939T>G c.647T>G (p.Val216Gly) c.674T>G (p.Val225Gly) c.608T>G (p.Val203Gly) | |
| 4 | g.16018444A>G | CA356419842 | PROM1 | c.881T>C (p.Val294Ala) c.*564T>C (n.*564T>C) c.854T>C (p.Val285Ala) n.617T>C c.939T>C c.647T>C (p.Val216Ala) c.674T>C (p.Val225Ala) c.608T>C (p.Val203Ala) | |
| 4 | g.16018444A>T | CA356419845 | PROM1 | c.881T>A (p.Val294Glu) c.*564T>A (n.*564T>A) c.854T>A (p.Val285Glu) n.617T>A c.939T>A c.647T>A (p.Val216Glu) c.674T>A (p.Val225Glu) c.608T>A (p.Val203Glu) | |
| 4 | g.16018445C>A | CA356419848 | PROM1 | c.880G>T (p.Val294Leu) c.*563G>T (n.*563G>T) c.853G>T (p.Val285Leu) n.616G>T c.938G>T c.646G>T (p.Val216Leu) c.673G>T (p.Val225Leu) c.607G>T (p.Val203Leu) | |
| 4 | g.16018445C= | CA1440922185 | PROM1 | c.880G= (p.Val294=) c.*563G= (n.*563G=) c.853G= (p.Val285=) n.616G= c.938G= c.646G= (p.Val216=) c.673G= (p.Val225=) c.607G= (p.Val203=) | |
| 4 | g.16018445C>G | CA356419849 | PROM1 | c.880G>C (p.Val294Leu) c.*563G>C (n.*563G>C) c.853G>C (p.Val285Leu) n.616G>C c.938G>C c.646G>C (p.Val216Leu) c.673G>C (p.Val225Leu) c.607G>C (p.Val203Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018445C>T | CA2866928 | PROM1 | c.880G>A (p.Val294Met) c.*563G>A (n.*563G>A) c.853G>A (p.Val285Met) n.616G>A c.938G>A c.646G>A (p.Val216Met) c.673G>A (p.Val225Met) c.607G>A (p.Val203Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018446G>A | CA247679 | PROM1 | c.879C>T (p.Ser293=) c.*562C>T (n.*562C>T) c.852C>T (p.Ser284=) n.615C>T c.937C>T c.645C>T (p.Ser215=) c.672C>T (p.Ser224=) c.606C>T (p.Ser202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018446G>C | CA356419855 | PROM1 | c.879C>G (p.Ser293Arg) c.*562C>G (n.*562C>G) c.852C>G (p.Ser284Arg) n.615C>G c.937C>G c.645C>G (p.Ser215Arg) c.672C>G (p.Ser224Arg) c.606C>G (p.Ser202Arg) | gnomAD v4 |
| 4 | g.16018446G= | CA1440922186 | PROM1 | c.879C= (p.Ser293=) c.*562C= (n.*562C=) c.852C= (p.Ser284=) n.615C= c.937C= c.645C= (p.Ser215=) c.672C= (p.Ser224=) c.606C= (p.Ser202=) | |
| 4 | g.16018446G>T | CA2866929 | PROM1 | c.879C>A (p.Ser293Arg) c.*562C>A (n.*562C>A) c.852C>A (p.Ser284Arg) n.615C>A c.937C>A c.645C>A (p.Ser215Arg) c.672C>A (p.Ser224Arg) c.606C>A (p.Ser202Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018447C>A | CA356419858 | PROM1 | c.878G>T (p.Ser293Ile) c.*561G>T (n.*561G>T) c.851G>T (p.Ser284Ile) n.614G>T c.936G>T c.644G>T (p.Ser215Ile) c.671G>T (p.Ser224Ile) c.605G>T (p.Ser202Ile) | |
| 4 | g.16018447C>G | CA356419859 | PROM1 | c.878G>C (p.Ser293Thr) c.*561G>C (n.*561G>C) c.851G>C (p.Ser284Thr) n.614G>C c.936G>C c.644G>C (p.Ser215Thr) c.671G>C (p.Ser224Thr) c.605G>C (p.Ser202Thr) | |
| 4 | g.16018447C>T | CA356419861 | PROM1 | c.878G>A (p.Ser293Asn) c.*561G>A (n.*561G>A) c.851G>A (p.Ser284Asn) n.614G>A c.936G>A c.644G>A (p.Ser215Asn) c.671G>A (p.Ser224Asn) c.605G>A (p.Ser202Asn) | |
| 4 | g.16018448del | CA2670101035 | PROM1 | c.877del (p.Ser293AlafsTer2) c.*560del (n.*560del) c.850del (p.Ser284AlafsTer2) n.613del c.935del c.643del (p.Ser215AlafsTer2) c.670del (p.Ser224AlafsTer2) c.604del (p.Ser202AlafsTer2) | gnomAD v4 |
| 4 | g.16018448T>A | CA356419864 | PROM1 | c.877A>T (p.Ser293Cys) c.*560A>T (n.*560A>T) c.850A>T (p.Ser284Cys) n.613A>T c.935A>T c.643A>T (p.Ser215Cys) c.670A>T (p.Ser224Cys) c.604A>T (p.Ser202Cys) | |
| 4 | g.16018448T>C | CA356419866 | PROM1 | c.877A>G (p.Ser293Gly) c.*560A>G (n.*560A>G) c.850A>G (p.Ser284Gly) n.613A>G c.935A>G c.643A>G (p.Ser215Gly) c.670A>G (p.Ser224Gly) c.604A>G (p.Ser202Gly) | gnomAD v4 |
| 4 | g.16018448T>G | CA356419867 | PROM1 | c.877A>C (p.Ser293Arg) c.*560A>C (n.*560A>C) c.850A>C (p.Ser284Arg) n.613A>C c.935A>C c.643A>C (p.Ser215Arg) c.670A>C (p.Ser224Arg) c.604A>C (p.Ser202Arg) | |
| 4 | g.16018449G>A | CA438381888 | PROM1 | c.876C>T (p.Thr292=) c.*559C>T (n.*559C>T) c.849C>T (p.Thr283=) n.612C>T c.934C>T c.642C>T (p.Thr214=) c.669C>T (p.Thr223=) c.603C>T (p.Thr201=) | gnomAD v4 |
| 4 | g.16018449G>C | CA438381890 | PROM1 | c.876C>G (p.Thr292=) c.*559C>G (n.*559C>G) c.849C>G (p.Thr283=) n.612C>G c.934C>G c.642C>G (p.Thr214=) c.669C>G (p.Thr223=) c.603C>G (p.Thr201=) | |
| 4 | g.16018449G= | CA1440922187 | PROM1 | c.876C= (p.Thr292=) c.*559C= (n.*559C=) c.849C= (p.Thr283=) n.612C= c.934C= c.642C= (p.Thr214=) c.669C= (p.Thr223=) c.603C= (p.Thr201=) | |
| 4 | g.16018449G>T | CA2866930 | PROM1 | c.876C>A (p.Thr292=) c.*559C>A (n.*559C>A) c.849C>A (p.Thr283=) n.612C>A c.934C>A c.642C>A (p.Thr214=) c.669C>A (p.Thr223=) c.603C>A (p.Thr201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018450G>A | CA356419871 | PROM1 | c.875C>T (p.Thr292Ile) c.*558C>T (n.*558C>T) c.848C>T (p.Thr283Ile) n.611C>T c.933C>T c.641C>T (p.Thr214Ile) c.668C>T (p.Thr223Ile) c.602C>T (p.Thr201Ile) | |
| 4 | g.16018450G>C | CA356419872 | PROM1 | c.875C>G (p.Thr292Ser) c.*558C>G (n.*558C>G) c.848C>G (p.Thr283Ser) n.611C>G c.933C>G c.641C>G (p.Thr214Ser) c.668C>G (p.Thr223Ser) c.602C>G (p.Thr201Ser) | |
| 4 | g.16018450G>T | CA356419874 | PROM1 | c.875C>A (p.Thr292Asn) c.*558C>A (n.*558C>A) c.848C>A (p.Thr283Asn) n.611C>A c.933C>A c.641C>A (p.Thr214Asn) c.668C>A (p.Thr223Asn) c.602C>A (p.Thr201Asn) | |
| 4 | g.16018451T>A | CA356419877 | PROM1 | c.874A>T (p.Thr292Ser) c.*557A>T (n.*557A>T) c.847A>T (p.Thr283Ser) n.610A>T c.932A>T c.640A>T (p.Thr214Ser) c.667A>T (p.Thr223Ser) c.601A>T (p.Thr201Ser) | |
| 4 | g.16018451T>C | CA356419878 | PROM1 | c.874A>G (p.Thr292Ala) c.*557A>G (n.*557A>G) c.847A>G (p.Thr283Ala) n.610A>G c.932A>G c.640A>G (p.Thr214Ala) c.667A>G (p.Thr223Ala) c.601A>G (p.Thr201Ala) | |
| 4 | g.16018451T>G | CA356419880 | PROM1 | c.874A>C (p.Thr292Pro) c.*557A>C (n.*557A>C) c.847A>C (p.Thr283Pro) n.610A>C c.932A>C c.640A>C (p.Thr214Pro) c.667A>C (p.Thr223Pro) c.601A>C (p.Thr201Pro) | |
| 4 | g.16018452C>A | CA438381892 | PROM1 | c.873G>T (p.Leu291=) c.*556G>T (n.*556G>T) c.846G>T (p.Leu282=) n.609G>T c.931G>T c.639G>T (p.Leu213=) c.666G>T (p.Leu222=) c.600G>T (p.Leu200=) | |
| 4 | g.16018452C>G | CA438381896 | PROM1 | c.873G>C (p.Leu291=) c.*556G>C (n.*556G>C) c.846G>C (p.Leu282=) n.609G>C c.931G>C c.639G>C (p.Leu213=) c.666G>C (p.Leu222=) c.600G>C (p.Leu200=) | |
| 4 | g.16018452C>T | CA438381894 | PROM1 | c.873G>A (p.Leu291=) c.*556G>A (n.*556G>A) c.846G>A (p.Leu282=) n.609G>A c.931G>A c.639G>A (p.Leu213=) c.666G>A (p.Leu222=) c.600G>A (p.Leu200=) | |
| 4 | g.16018453A>C | CA356419886 | PROM1 | c.872T>G (p.Leu291Arg) c.*555T>G (n.*555T>G) c.845T>G (p.Leu282Arg) n.608T>G c.930T>G c.638T>G (p.Leu213Arg) c.665T>G (p.Leu222Arg) c.599T>G (p.Leu200Arg) | |
| 4 | g.16018453A>G | CA356419883 | PROM1 | c.872T>C (p.Leu291Pro) c.*555T>C (n.*555T>C) c.845T>C (p.Leu282Pro) n.608T>C c.930T>C c.638T>C (p.Leu213Pro) c.665T>C (p.Leu222Pro) c.599T>C (p.Leu200Pro) | |
| 4 | g.16018453A>T | CA356419885 | PROM1 | c.872T>A (p.Leu291Gln) c.*555T>A (n.*555T>A) c.845T>A (p.Leu282Gln) n.608T>A c.930T>A c.638T>A (p.Leu213Gln) c.665T>A (p.Leu222Gln) c.599T>A (p.Leu200Gln) | |
| 4 | g.16018454G>A | CA438381898 | PROM1 | c.871C>T (p.Leu291=) c.*554C>T (n.*554C>T) c.844C>T (p.Leu282=) n.607C>T c.929C>T c.637C>T (p.Leu213=) c.664C>T (p.Leu222=) c.598C>T (p.Leu200=) | |
| 4 | g.16018454G>C | CA356419888 | PROM1 | c.871C>G (p.Leu291Val) c.*554C>G (n.*554C>G) c.844C>G (p.Leu282Val) n.607C>G c.929C>G c.637C>G (p.Leu213Val) c.664C>G (p.Leu222Val) c.598C>G (p.Leu200Val) | |
| 4 | g.16018454G>T | CA356419891 | PROM1 | c.871C>A (p.Leu291Met) c.*554C>A (n.*554C>A) c.844C>A (p.Leu282Met) n.607C>A c.929C>A c.637C>A (p.Leu213Met) c.664C>A (p.Leu222Met) c.598C>A (p.Leu200Met) | |
| 4 | g.16018455A>C | CA356419893 | PROM1 | c.870T>G (p.Ser290Arg) c.*553T>G (n.*553T>G) c.843T>G (p.Ser281Arg) n.606T>G c.928T>G c.636T>G (p.Ser212Arg) c.663T>G (p.Ser221Arg) c.597T>G (p.Ser199Arg) | |
| 4 | g.16018455A>G | CA438381902 | PROM1 | c.870T>C (p.Ser290=) c.*553T>C (n.*553T>C) c.843T>C (p.Ser281=) n.606T>C c.928T>C c.636T>C (p.Ser212=) c.663T>C (p.Ser221=) c.597T>C (p.Ser199=) | |
| 4 | g.16018455A>T | CA356419894 | PROM1 | c.870T>A (p.Ser290Arg) c.*553T>A (n.*553T>A) c.843T>A (p.Ser281Arg) n.606T>A c.928T>A c.636T>A (p.Ser212Arg) c.663T>A (p.Ser221Arg) c.597T>A (p.Ser199Arg) | |
| 4 | g.16018455_16018456delinsAC | CA1440922188 | PROM1 | c.869_870delinsGT (p.Ser290=) c.*552_*553delinsGT (n.*552_*553delinsGT) c.842_843delinsGT (p.Ser281=) n.605_606delinsGT c.927_928delinsGT c.635_636delinsGT (p.Ser212=) c.662_663delinsGT (p.Ser221=) c.596_597delinsGT (p.Ser199=) | |
| 4 | g.16018456del | CA550187766 | PROM1 | c.869del (p.Ser290IlefsTer2) c.*552del (n.*552del) c.842del (p.Ser281IlefsTer2) n.605del c.927del c.635del (p.Ser212IlefsTer2) c.662del (p.Ser221IlefsTer2) c.596del (p.Ser199IlefsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16018456C>A | CA356419897 | PROM1 | c.869G>T (p.Ser290Ile) c.*552G>T (n.*552G>T) c.842G>T (p.Ser281Ile) n.605G>T c.927G>T c.635G>T (p.Ser212Ile) c.662G>T (p.Ser221Ile) c.596G>T (p.Ser199Ile) | |
| 4 | g.16018456C>G | CA356419899 | PROM1 | c.869G>C (p.Ser290Thr) c.*552G>C (n.*552G>C) c.842G>C (p.Ser281Thr) n.605G>C c.927G>C c.635G>C (p.Ser212Thr) c.662G>C (p.Ser221Thr) c.596G>C (p.Ser199Thr) | |
| 4 | g.16018456C>T | CA356419901 | PROM1 | c.869G>A (p.Ser290Asn) c.*552G>A (n.*552G>A) c.842G>A (p.Ser281Asn) n.605G>A c.927G>A c.635G>A (p.Ser212Asn) c.662G>A (p.Ser221Asn) c.596G>A (p.Ser199Asn) | |
| 4 | g.16018457T>A | CA356419903 | PROM1 | c.868A>T (p.Ser290Cys) c.*551A>T (n.*551A>T) c.841A>T (p.Ser281Cys) n.604A>T c.926A>T c.634A>T (p.Ser212Cys) c.661A>T (p.Ser221Cys) c.595A>T (p.Ser199Cys) | |
| 4 | g.16018457T>C | CA356419904 | PROM1 | c.868A>G (p.Ser290Gly) c.*551A>G (n.*551A>G) c.841A>G (p.Ser281Gly) n.604A>G c.926A>G c.634A>G (p.Ser212Gly) c.661A>G (p.Ser221Gly) c.595A>G (p.Ser199Gly) | |
| 4 | g.16018457T>G | CA2866931 | PROM1 | c.868A>C (p.Ser290Arg) c.*551A>C (n.*551A>C) c.841A>C (p.Ser281Arg) n.604A>C c.926A>C c.634A>C (p.Ser212Arg) c.661A>C (p.Ser221Arg) c.595A>C (p.Ser199Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018457T= | CA1440922189 | PROM1 | c.868A= (p.Ser290=) c.*551A= (n.*551A=) c.841A= (p.Ser281=) n.604A= c.926A= c.634A= (p.Ser212=) c.661A= (p.Ser221=) c.595A= (p.Ser199=) | |
| 4 | g.16018458G>A | CA438381905 | PROM1 | c.867C>T (p.Ser289=) c.*550C>T (n.*550C>T) c.840C>T (p.Ser280=) n.603C>T c.925C>T c.633C>T (p.Ser211=) c.660C>T (p.Ser220=) c.594C>T (p.Ser198=) | |
| 4 | g.16018458G>C | CA356419907 | PROM1 | c.867C>G (p.Ser289Arg) c.*550C>G (n.*550C>G) c.840C>G (p.Ser280Arg) n.603C>G c.925C>G c.633C>G (p.Ser211Arg) c.660C>G (p.Ser220Arg) c.594C>G (p.Ser198Arg) | |
| 4 | g.16018458G>T | CA356419909 | PROM1 | c.867C>A (p.Ser289Arg) c.*550C>A (n.*550C>A) c.840C>A (p.Ser280Arg) n.603C>A c.925C>A c.633C>A (p.Ser211Arg) c.660C>A (p.Ser220Arg) c.594C>A (p.Ser198Arg) | |
| 4 | g.16018459C>A | CA356419916 | PROM1 | c.866G>T (p.Ser289Ile) c.*549G>T (n.*549G>T) c.839G>T (p.Ser280Ile) n.602G>T c.924G>T c.632G>T (p.Ser211Ile) c.659G>T (p.Ser220Ile) c.593G>T (p.Ser198Ile) | gnomAD v4 |
| 4 | g.16018459C>G | CA356419913 | PROM1 | c.866G>C (p.Ser289Thr) c.*549G>C (n.*549G>C) c.839G>C (p.Ser280Thr) n.602G>C c.924G>C c.632G>C (p.Ser211Thr) c.659G>C (p.Ser220Thr) c.593G>C (p.Ser198Thr) | |
| 4 | g.16018459C>T | CA356419911 | PROM1 | c.866G>A (p.Ser289Asn) c.*549G>A (n.*549G>A) c.839G>A (p.Ser280Asn) n.602G>A c.924G>A c.632G>A (p.Ser211Asn) c.659G>A (p.Ser220Asn) c.593G>A (p.Ser198Asn) | |
| 4 | g.16018460T>A | CA356419919 | PROM1 | c.865A>T (p.Ser289Cys) c.*548A>T (n.*548A>T) c.838A>T (p.Ser280Cys) n.601A>T c.923A>T c.631A>T (p.Ser211Cys) c.658A>T (p.Ser220Cys) c.592A>T (p.Ser198Cys) | |
| 4 | g.16018460T>C | CA356419923 | PROM1 | c.865A>G (p.Ser289Gly) c.*548A>G (n.*548A>G) c.838A>G (p.Ser280Gly) n.601A>G c.923A>G c.631A>G (p.Ser211Gly) c.658A>G (p.Ser220Gly) c.592A>G (p.Ser198Gly) | |
| 4 | g.16018460T>G | CA356419921 | PROM1 | c.865A>C (p.Ser289Arg) c.*548A>C (n.*548A>C) c.838A>C (p.Ser280Arg) n.601A>C c.923A>C c.631A>C (p.Ser211Arg) c.658A>C (p.Ser220Arg) c.592A>C (p.Ser198Arg) | |
| 4 | g.16018461G>A | CA438381909 | PROM1 | c.864C>T (p.Ser288=) c.*547C>T (n.*547C>T) c.837C>T (p.Ser279=) n.600C>T c.922C>T c.630C>T (p.Ser210=) c.657C>T (p.Ser219=) c.591C>T (p.Ser197=) | |
| 4 | g.16018461G>C | CA92563092 | PROM1 | c.864C>G (p.Ser288Arg) c.*547C>G (n.*547C>G) c.837C>G (p.Ser279Arg) n.600C>G c.922C>G c.630C>G (p.Ser210Arg) c.657C>G (p.Ser219Arg) c.591C>G (p.Ser197Arg) | dbSNP gnomAD v4 |
| 4 | g.16018461G= | CA1440922190 | PROM1 | c.864C= (p.Ser288=) c.*547C= (n.*547C=) c.837C= (p.Ser279=) n.600C= c.922C= c.630C= (p.Ser210=) c.657C= (p.Ser219=) c.591C= (p.Ser197=) | |
| 4 | g.16018461G>T | CA356419947 | PROM1 | c.864C>A (p.Ser288Arg) c.*547C>A (n.*547C>A) c.837C>A (p.Ser279Arg) n.600C>A c.922C>A c.630C>A (p.Ser210Arg) c.657C>A (p.Ser219Arg) c.591C>A (p.Ser197Arg) | |
| 4 | g.16018462C>A | CA356419951 | PROM1 | c.863G>T (p.Ser288Ile) c.*546G>T (n.*546G>T) c.836G>T (p.Ser279Ile) n.599G>T c.921G>T c.629G>T (p.Ser210Ile) c.656G>T (p.Ser219Ile) c.590G>T (p.Ser197Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16018462C= | CA1440922191 | PROM1 | c.863G= (p.Ser288=) c.*546G= (n.*546G=) c.836G= (p.Ser279=) n.599G= c.921G= c.629G= (p.Ser210=) c.656G= (p.Ser219=) c.590G= (p.Ser197=) | |
| 4 | g.16018462C>G | CA356419958 | PROM1 | c.863G>C (p.Ser288Thr) c.*546G>C (n.*546G>C) c.836G>C (p.Ser279Thr) n.599G>C c.921G>C c.629G>C (p.Ser210Thr) c.656G>C (p.Ser219Thr) c.590G>C (p.Ser197Thr) | |
| 4 | g.16018462C>T | CA356419953 | PROM1 | c.863G>A (p.Ser288Asn) c.*546G>A (n.*546G>A) c.836G>A (p.Ser279Asn) n.599G>A c.921G>A c.629G>A (p.Ser210Asn) c.656G>A (p.Ser219Asn) c.590G>A (p.Ser197Asn) | dbSNP |
| 4 | g.16018463T>A | CA356419963 | PROM1 | c.862A>T (p.Ser288Cys) c.*545A>T (n.*545A>T) c.835A>T (p.Ser279Cys) n.598A>T c.920A>T c.628A>T (p.Ser210Cys) c.655A>T (p.Ser219Cys) c.589A>T (p.Ser197Cys) | |
| 4 | g.16018463T>C | CA356419965 | PROM1 | c.862A>G (p.Ser288Gly) c.*545A>G (n.*545A>G) c.835A>G (p.Ser279Gly) n.598A>G c.920A>G c.628A>G (p.Ser210Gly) c.655A>G (p.Ser219Gly) c.589A>G (p.Ser197Gly) | |
| 4 | g.16018463T>G | CA356419967 | PROM1 | c.862A>C (p.Ser288Arg) c.*545A>C (n.*545A>C) c.835A>C (p.Ser279Arg) n.598A>C c.920A>C c.628A>C (p.Ser210Arg) c.655A>C (p.Ser219Arg) c.589A>C (p.Ser197Arg) | |
| 4 | g.16018464A= | CA1440922192 | PROM1 | c.861T= (p.Leu287=) c.*544T= (n.*544T=) c.834T= (p.Leu278=) n.597T= c.919T= c.627T= (p.Leu209=) c.654T= (p.Leu218=) c.588T= (p.Leu196=) | |
| 4 | g.16018464A>C | CA438381914 | PROM1 | c.861T>G (p.Leu287=) c.*544T>G (n.*544T>G) c.834T>G (p.Leu278=) n.597T>G c.919T>G c.627T>G (p.Leu209=) c.654T>G (p.Leu218=) c.588T>G (p.Leu196=) | |
| 4 | g.16018464A>G | CA438381915 | PROM1 | c.861T>C (p.Leu287=) c.*544T>C (n.*544T>C) c.834T>C (p.Leu278=) n.597T>C c.919T>C c.627T>C (p.Leu209=) c.654T>C (p.Leu218=) c.588T>C (p.Leu196=) | |
| 4 | g.16018464A>T | CA92563097 | PROM1 | c.861T>A (p.Leu287=) c.*544T>A (n.*544T>A) c.834T>A (p.Leu278=) n.597T>A c.919T>A c.627T>A (p.Leu209=) c.654T>A (p.Leu218=) c.588T>A (p.Leu196=) | dbSNP |
| 4 | g.16018465A>C | CA356419971 | PROM1 | c.860T>G (p.Leu287Arg) c.*543T>G (n.*543T>G) c.833T>G (p.Leu278Arg) n.596T>G c.918T>G c.626T>G (p.Leu209Arg) c.653T>G (p.Leu218Arg) c.587T>G (p.Leu196Arg) | |
| 4 | g.16018465A>G | CA356419973 | PROM1 | c.860T>C (p.Leu287Pro) c.*543T>C (n.*543T>C) c.833T>C (p.Leu278Pro) n.596T>C c.918T>C c.626T>C (p.Leu209Pro) c.653T>C (p.Leu218Pro) c.587T>C (p.Leu196Pro) | |
| 4 | g.16018465A>T | CA356419976 | PROM1 | c.860T>A (p.Leu287His) c.*543T>A (n.*543T>A) c.833T>A (p.Leu278His) n.596T>A c.918T>A c.626T>A (p.Leu209His) c.653T>A (p.Leu218His) c.587T>A (p.Leu196His) | |
| 4 | g.16018466G>A | CA356419987 | PROM1 | c.859C>T (p.Leu287Phe) c.*542C>T (n.*542C>T) c.832C>T (p.Leu278Phe) n.595C>T c.917C>T c.625C>T (p.Leu209Phe) c.652C>T (p.Leu218Phe) c.586C>T (p.Leu196Phe) | ClinVar |
| 4 | g.16018466G>C | CA356419981 | PROM1 | c.859C>G (p.Leu287Val) c.*542C>G (n.*542C>G) c.832C>G (p.Leu278Val) n.595C>G c.917C>G c.625C>G (p.Leu209Val) c.652C>G (p.Leu218Val) c.586C>G (p.Leu196Val) | |
| 4 | g.16018466G= | CA1440922193 | PROM1 | c.859C= (p.Leu287=) c.*542C= (n.*542C=) c.832C= (p.Leu278=) n.595C= c.917C= c.625C= (p.Leu209=) c.652C= (p.Leu218=) c.586C= (p.Leu196=) | |
| 4 | g.16018466G>T | CA356419984 | PROM1 | c.859C>A (p.Leu287Ile) c.*542C>A (n.*542C>A) c.832C>A (p.Leu278Ile) n.595C>A c.917C>A c.625C>A (p.Leu209Ile) c.652C>A (p.Leu218Ile) c.586C>A (p.Leu196Ile) | dbSNP |
| 4 | g.16018467C>A | CA356419991 | PROM1 | c.858G>T (p.Gln286His) c.*541G>T (n.*541G>T) c.831G>T (p.Gln277His) n.594G>T c.916G>T c.624G>T (p.Gln208His) c.651G>T (p.Gln217His) c.585G>T (p.Gln195His) | |
| 4 | g.16018467C>G | CA356419994 | PROM1 | c.858G>C (p.Gln286His) c.*541G>C (n.*541G>C) c.831G>C (p.Gln277His) n.594G>C c.916G>C c.624G>C (p.Gln208His) c.651G>C (p.Gln217His) c.585G>C (p.Gln195His) | |
| 4 | g.16018467C>T | CA438381924 | PROM1 | c.858G>A (p.Gln286=) c.*541G>A (n.*541G>A) c.831G>A (p.Gln277=) n.594G>A c.916G>A c.624G>A (p.Gln208=) c.651G>A (p.Gln217=) c.585G>A (p.Gln195=) | |
| 4 | g.16018468T>A | CA356419997 | PROM1 | c.857A>T (p.Gln286Leu) c.*540A>T (n.*540A>T) c.830A>T (p.Gln277Leu) n.593A>T c.915A>T c.623A>T (p.Gln208Leu) c.650A>T (p.Gln217Leu) c.584A>T (p.Gln195Leu) | |
| 4 | g.16018468T>C | CA2866932 | PROM1 | c.857A>G (p.Gln286Arg) c.*540A>G (n.*540A>G) c.830A>G (p.Gln277Arg) n.593A>G c.915A>G c.623A>G (p.Gln208Arg) c.650A>G (p.Gln217Arg) c.584A>G (p.Gln195Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018468T>G | CA356420005 | PROM1 | c.857A>C (p.Gln286Pro) c.*540A>C (n.*540A>C) c.830A>C (p.Gln277Pro) n.593A>C c.915A>C c.623A>C (p.Gln208Pro) c.650A>C (p.Gln217Pro) c.584A>C (p.Gln195Pro) | COSMIC COSMIC |
| 4 | g.16018468T= | CA1440922194 | PROM1 | c.857A= (p.Gln286=) c.*540A= (n.*540A=) c.830A= (p.Gln277=) n.593A= c.915A= c.623A= (p.Gln208=) c.650A= (p.Gln217=) c.584A= (p.Gln195=) | |
| 4 | g.16018469G>A | CA356420009 | PROM1 | c.856C>T (p.Gln286Ter) c.*539C>T (n.*539C>T) c.829C>T (p.Gln277Ter) n.592C>T c.914C>T c.622C>T (p.Gln208Ter) c.649C>T (p.Gln217Ter) c.583C>T (p.Gln195Ter) | |
| 4 | g.16018469G>C | CA356420018 | PROM1 | c.856C>G (p.Gln286Glu) c.*539C>G (n.*539C>G) c.829C>G (p.Gln277Glu) n.592C>G c.914C>G c.622C>G (p.Gln208Glu) c.649C>G (p.Gln217Glu) c.583C>G (p.Gln195Glu) | |
| 4 | g.16018469G>T | CA356420011 | PROM1 | c.856C>A (p.Gln286Lys) c.*539C>A (n.*539C>A) c.829C>A (p.Gln277Lys) n.592C>A c.914C>A c.622C>A (p.Gln208Lys) c.649C>A (p.Gln217Lys) c.583C>A (p.Gln195Lys) | |
| 4 | g.16018470T>A | CA438381927 | PROM1 | c.855A>T (p.Thr285=) c.*538A>T (n.*538A>T) c.828A>T (p.Thr276=) n.591A>T c.913A>T c.621A>T (p.Thr207=) c.648A>T (p.Thr216=) c.582A>T (p.Thr194=) | dbSNP |
| 4 | g.16018470T>C | CA438381928 | PROM1 | c.855A>G (p.Thr285=) c.*538A>G (n.*538A>G) c.828A>G (p.Thr276=) n.591A>G c.913A>G c.621A>G (p.Thr207=) c.648A>G (p.Thr216=) c.582A>G (p.Thr194=) | |
| 4 | g.16018470T>G | CA438381929 | PROM1 | c.855A>C (p.Thr285=) c.*538A>C (n.*538A>C) c.828A>C (p.Thr276=) n.591A>C c.913A>C c.621A>C (p.Thr207=) c.648A>C (p.Thr216=) c.582A>C (p.Thr194=) | |
| 4 | g.16018471G>A | CA356420022 | PROM1 | c.854C>T (p.Thr285Ile) c.*537C>T (n.*537C>T) c.827C>T (p.Thr276Ile) n.590C>T c.912C>T c.620C>T (p.Thr207Ile) c.647C>T (p.Thr216Ile) c.581C>T (p.Thr194Ile) | |
| 4 | g.16018471G>C | CA356420023 | PROM1 | c.854C>G (p.Thr285Arg) c.*537C>G (n.*537C>G) c.827C>G (p.Thr276Arg) n.590C>G c.912C>G c.620C>G (p.Thr207Arg) c.647C>G (p.Thr216Arg) c.581C>G (p.Thr194Arg) | |
| 4 | g.16018471G>T | CA356420024 | PROM1 | c.854C>A (p.Thr285Lys) c.*537C>A (n.*537C>A) c.827C>A (p.Thr276Lys) n.590C>A c.912C>A c.620C>A (p.Thr207Lys) c.647C>A (p.Thr216Lys) c.581C>A (p.Thr194Lys) | |
| 4 | g.16018472T>A | CA356420025 | PROM1 | c.853A>T (p.Thr285Ser) c.*536A>T (n.*536A>T) c.826A>T (p.Thr276Ser) n.589A>T c.911A>T c.619A>T (p.Thr207Ser) c.646A>T (p.Thr216Ser) c.580A>T (p.Thr194Ser) | |
| 4 | g.16018472T>C | CA356420026 | PROM1 | c.853A>G (p.Thr285Ala) c.*536A>G (n.*536A>G) c.826A>G (p.Thr276Ala) n.589A>G c.911A>G c.619A>G (p.Thr207Ala) c.646A>G (p.Thr216Ala) c.580A>G (p.Thr194Ala) | |
| 4 | g.16018472T>G | CA356420029 | PROM1 | c.853A>C (p.Thr285Pro) c.*536A>C (n.*536A>C) c.826A>C (p.Thr276Pro) n.589A>C c.911A>C c.619A>C (p.Thr207Pro) c.646A>C (p.Thr216Pro) c.580A>C (p.Thr194Pro) | |
| 4 | g.16018473A>C | CA356420040 | PROM1 | c.852T>G (p.Ser284Arg) c.*535T>G (n.*535T>G) c.825T>G (p.Ser275Arg) n.588T>G c.910T>G c.618T>G (p.Ser206Arg) c.645T>G (p.Ser215Arg) c.579T>G (p.Ser193Arg) | |
| 4 | g.16018473A>G | CA438381933 | PROM1 | c.852T>C (p.Ser284=) c.*535T>C (n.*535T>C) c.825T>C (p.Ser275=) n.588T>C c.910T>C c.618T>C (p.Ser206=) c.645T>C (p.Ser215=) c.579T>C (p.Ser193=) | |
| 4 | g.16018473A>T | CA356420044 | PROM1 | c.852T>A (p.Ser284Arg) c.*535T>A (n.*535T>A) c.825T>A (p.Ser275Arg) n.588T>A c.910T>A c.618T>A (p.Ser206Arg) c.645T>A (p.Ser215Arg) c.579T>A (p.Ser193Arg) | |
| 4 | g.16018474C>A | CA356420045 | PROM1 | c.851G>T (p.Ser284Ile) c.*534G>T (n.*534G>T) c.824G>T (p.Ser275Ile) n.587G>T c.909G>T c.617G>T (p.Ser206Ile) c.644G>T (p.Ser215Ile) c.578G>T (p.Ser193Ile) | |
| 4 | g.16018474C= | CA1440922195 | PROM1 | c.851G= (p.Ser284=) c.*534G= (n.*534G=) c.824G= (p.Ser275=) n.587G= c.909G= c.617G= (p.Ser206=) c.644G= (p.Ser215=) c.578G= (p.Ser193=) | |
| 4 | g.16018474C>G | CA356420046 | PROM1 | c.851G>C (p.Ser284Thr) c.*534G>C (n.*534G>C) c.824G>C (p.Ser275Thr) n.587G>C c.909G>C c.617G>C (p.Ser206Thr) c.644G>C (p.Ser215Thr) c.578G>C (p.Ser193Thr) | |
| 4 | g.16018474C>T | CA356420047 | PROM1 | c.851G>A (p.Ser284Asn) c.*534G>A (n.*534G>A) c.824G>A (p.Ser275Asn) n.587G>A c.909G>A c.617G>A (p.Ser206Asn) c.644G>A (p.Ser215Asn) c.578G>A (p.Ser193Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16018475T>A | CA356420051 | PROM1 | c.850A>T (p.Ser284Cys) c.*533A>T (n.*533A>T) c.823A>T (p.Ser275Cys) n.586A>T c.908A>T c.616A>T (p.Ser206Cys) c.643A>T (p.Ser215Cys) c.577A>T (p.Ser193Cys) | |
| 4 | g.16018475T>C | CA356420052 | PROM1 | c.850A>G (p.Ser284Gly) c.*533A>G (n.*533A>G) c.823A>G (p.Ser275Gly) n.586A>G c.908A>G c.616A>G (p.Ser206Gly) c.643A>G (p.Ser215Gly) c.577A>G (p.Ser193Gly) | |
| 4 | g.16018475T>G | CA2866933 | PROM1 | c.850A>C (p.Ser284Arg) c.*533A>C (n.*533A>C) c.823A>C (p.Ser275Arg) n.586A>C c.908A>C c.616A>C (p.Ser206Arg) c.643A>C (p.Ser215Arg) c.577A>C (p.Ser193Arg) | dbSNP ExAC gnomAD v2 |
| 4 | g.16018475T= | CA1440922196 | PROM1 | c.850A= (p.Ser284=) c.*533A= (n.*533A=) c.823A= (p.Ser275=) n.586A= c.908A= c.616A= (p.Ser206=) c.643A= (p.Ser215=) c.577A= (p.Ser193=) | |
| 4 | g.16018476T>A | CA356420053 | PROM1 | c.849A>T (p.Gln283His) c.*532A>T (n.*532A>T) c.822A>T (p.Gln274His) n.585A>T c.907A>T c.615A>T (p.Gln205His) c.642A>T (p.Gln214His) c.576A>T (p.Gln192His) | |
| 4 | g.16018476T>C | CA438381939 | PROM1 | c.849A>G (p.Gln283=) c.*532A>G (n.*532A>G) c.822A>G (p.Gln274=) n.585A>G c.907A>G c.615A>G (p.Gln205=) c.642A>G (p.Gln214=) c.576A>G (p.Gln192=) | |
| 4 | g.16018476T>G | CA356420054 | PROM1 | c.849A>C (p.Gln283His) c.*532A>C (n.*532A>C) c.822A>C (p.Gln274His) n.585A>C c.907A>C c.615A>C (p.Gln205His) c.642A>C (p.Gln214His) c.576A>C (p.Gln192His) | |
| 4 | g.16018477T>A | CA356420057 | PROM1 | c.848A>T (p.Gln283Leu) c.*531A>T (n.*531A>T) c.821A>T (p.Gln274Leu) n.584A>T c.906A>T c.614A>T (p.Gln205Leu) c.641A>T (p.Gln214Leu) c.575A>T (p.Gln192Leu) | |
| 4 | g.16018477T>C | CA2866934 | PROM1 | c.848A>G (p.Gln283Arg) c.*531A>G (n.*531A>G) c.821A>G (p.Gln274Arg) n.584A>G c.906A>G c.614A>G (p.Gln205Arg) c.641A>G (p.Gln214Arg) c.575A>G (p.Gln192Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018477T>G | CA356420060 | PROM1 | c.848A>C (p.Gln283Pro) c.*531A>C (n.*531A>C) c.821A>C (p.Gln274Pro) n.584A>C c.906A>C c.614A>C (p.Gln205Pro) c.641A>C (p.Gln214Pro) c.575A>C (p.Gln192Pro) | |
| 4 | g.16018477T= | CA1440922197 | PROM1 | c.848A= (p.Gln283=) c.*531A= (n.*531A=) c.821A= (p.Gln274=) n.584A= c.906A= c.614A= (p.Gln205=) c.641A= (p.Gln214=) c.575A= (p.Gln192=) | |
| 4 | g.16018478G>A | CA356420061 | PROM1 | c.847C>T (p.Gln283Ter) c.*530C>T (n.*530C>T) c.820C>T (p.Gln274Ter) n.583C>T c.905C>T c.613C>T (p.Gln205Ter) c.640C>T (p.Gln214Ter) c.574C>T (p.Gln192Ter) | |
| 4 | g.16018478G>C | CA356420065 | PROM1 | c.847C>G (p.Gln283Glu) c.*530C>G (n.*530C>G) c.820C>G (p.Gln274Glu) n.583C>G c.905C>G c.613C>G (p.Gln205Glu) c.640C>G (p.Gln214Glu) c.574C>G (p.Gln192Glu) | |
| 4 | g.16018478G= | CA1440922198 | PROM1 | c.847C= (p.Gln283=) c.*530C= (n.*530C=) c.820C= (p.Gln274=) n.583C= c.905C= c.613C= (p.Gln205=) c.640C= (p.Gln214=) c.574C= (p.Gln192=) | |
| 4 | g.16018478G>T | CA356420068 | PROM1 | c.847C>A (p.Gln283Lys) c.*530C>A (n.*530C>A) c.820C>A (p.Gln274Lys) n.583C>A c.905C>A c.613C>A (p.Gln205Lys) c.640C>A (p.Gln214Lys) c.574C>A (p.Gln192Lys) | ClinVar dbSNP |
| 4 | g.16018479T>A | CA356420071 | PROM1 | c.846A>T (p.Gln282His) c.*529A>T (n.*529A>T) c.819A>T (p.Gln273His) n.582A>T c.904A>T c.612A>T (p.Gln204His) c.639A>T (p.Gln213His) c.573A>T (p.Gln191His) | |
| 4 | g.16018479T>C | CA2866935 | PROM1 | c.846A>G (p.Gln282=) c.*529A>G (n.*529A>G) c.819A>G (p.Gln273=) n.582A>G c.904A>G c.612A>G (p.Gln204=) c.639A>G (p.Gln213=) c.573A>G (p.Gln191=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018479T>G | CA356420073 | PROM1 | c.846A>C (p.Gln282His) c.*529A>C (n.*529A>C) c.819A>C (p.Gln273His) n.582A>C c.904A>C c.612A>C (p.Gln204His) c.639A>C (p.Gln213His) c.573A>C (p.Gln191His) | |
| 4 | g.16018479T= | CA1440922199 | PROM1 | c.846A= (p.Gln282=) c.*529A= (n.*529A=) c.819A= (p.Gln273=) n.582A= c.904A= c.612A= (p.Gln204=) c.639A= (p.Gln213=) c.573A= (p.Gln191=) | |
| 4 | g.16018480T>A | CA356420088 | PROM1 | c.845A>T (p.Gln282Leu) c.*528A>T (n.*528A>T) c.818A>T (p.Gln273Leu) n.581A>T c.903A>T c.611A>T (p.Gln204Leu) c.638A>T (p.Gln213Leu) c.572A>T (p.Gln191Leu) | |
| 4 | g.16018480T>C | CA356420084 | PROM1 | c.845A>G (p.Gln282Arg) c.*528A>G (n.*528A>G) c.818A>G (p.Gln273Arg) n.581A>G c.903A>G c.611A>G (p.Gln204Arg) c.638A>G (p.Gln213Arg) c.572A>G (p.Gln191Arg) | gnomAD v4 |
| 4 | g.16018480T>G | CA356420078 | PROM1 | c.845A>C (p.Gln282Pro) c.*528A>C (n.*528A>C) c.818A>C (p.Gln273Pro) n.581A>C c.903A>C c.611A>C (p.Gln204Pro) c.638A>C (p.Gln213Pro) c.572A>C (p.Gln191Pro) | |
| 4 | g.16018481G>A | CA356420092 | PROM1 | c.844C>T (p.Gln282Ter) c.*527C>T (n.*527C>T) c.817C>T (p.Gln273Ter) n.580C>T c.902C>T c.610C>T (p.Gln204Ter) c.637C>T (p.Gln213Ter) c.571C>T (p.Gln191Ter) | |
| 4 | g.16018481G>C | CA356420094 | PROM1 | c.844C>G (p.Gln282Glu) c.*527C>G (n.*527C>G) c.817C>G (p.Gln273Glu) n.580C>G c.902C>G c.610C>G (p.Gln204Glu) c.637C>G (p.Gln213Glu) c.571C>G (p.Gln191Glu) | |
| 4 | g.16018481G>T | CA356420097 | PROM1 | c.844C>A (p.Gln282Lys) c.*527C>A (n.*527C>A) c.817C>A (p.Gln273Lys) n.580C>A c.902C>A c.610C>A (p.Gln204Lys) c.637C>A (p.Gln213Lys) c.571C>A (p.Gln191Lys) | |
| 4 | g.16018482G>A | CA2866936 | PROM1 | c.843C>T (p.His281=) c.*526C>T (n.*526C>T) c.816C>T (p.His272=) n.579C>T c.901C>T c.609C>T (p.His203=) c.636C>T (p.His212=) c.570C>T (p.His190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.16018482G>C | CA356420098 | PROM1 | c.843C>G (p.His281Gln) c.*526C>G (n.*526C>G) c.816C>G (p.His272Gln) n.579C>G c.901C>G c.609C>G (p.His203Gln) c.636C>G (p.His212Gln) c.570C>G (p.His190Gln) | |
| 4 | g.16018482G= | CA1440922200 | PROM1 | c.843C= (p.His281=) c.*526C= (n.*526C=) c.816C= (p.His272=) n.579C= c.901C= c.609C= (p.His203=) c.636C= (p.His212=) c.570C= (p.His190=) | |
| 4 | g.16018482G>T | CA356420099 | PROM1 | c.843C>A (p.His281Gln) c.*526C>A (n.*526C>A) c.816C>A (p.His272Gln) n.579C>A c.901C>A c.609C>A (p.His203Gln) c.636C>A (p.His212Gln) c.570C>A (p.His190Gln) | |
| 4 | g.16018483T>A | CA356420104 | PROM1 | c.842A>T (p.His281Leu) c.*525A>T (n.*525A>T) c.815A>T (p.His272Leu) n.578A>T c.900A>T c.608A>T (p.His203Leu) c.635A>T (p.His212Leu) c.569A>T (p.His190Leu) | |
| 4 | g.16018483T>C | CA356420107 | PROM1 | c.842A>G (p.His281Arg) c.*525A>G (n.*525A>G) c.815A>G (p.His272Arg) n.578A>G c.900A>G c.608A>G (p.His203Arg) c.635A>G (p.His212Arg) c.569A>G (p.His190Arg) | |
| 4 | g.16018483T>G | CA356420110 | PROM1 | c.842A>C (p.His281Pro) c.*525A>C (n.*525A>C) c.815A>C (p.His272Pro) n.578A>C c.900A>C c.608A>C (p.His203Pro) c.635A>C (p.His212Pro) c.569A>C (p.His190Pro) | |
| 4 | g.16018484G>A | CA356420117 | PROM1 | c.841C>T (p.His281Tyr) c.*524C>T (n.*524C>T) c.814C>T (p.His272Tyr) n.577C>T c.899C>T c.607C>T (p.His203Tyr) c.634C>T (p.His212Tyr) c.568C>T (p.His190Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16018484G>C | CA356420120 | PROM1 | c.841C>G (p.His281Asp) c.*524C>G (n.*524C>G) c.814C>G (p.His272Asp) n.577C>G c.899C>G c.607C>G (p.His203Asp) c.634C>G (p.His212Asp) c.568C>G (p.His190Asp) | |
| 4 | g.16018484G= | CA1440922201 | PROM1 | c.841C= (p.His281=) c.*524C= (n.*524C=) c.814C= (p.His272=) n.577C= c.899C= c.607C= (p.His203=) c.634C= (p.His212=) c.568C= (p.His190=) | |
| 4 | g.16018484G>T | CA356420129 | PROM1 | c.841C>A (p.His281Asn) c.*524C>A (n.*524C>A) c.814C>A (p.His272Asn) n.577C>A c.899C>A c.607C>A (p.His203Asn) c.634C>A (p.His212Asn) c.568C>A (p.His190Asn) | |
| 4 | g.16018485C>A | CA356420138 | PROM1 | c.840G>T (p.Leu280Phe) c.*523G>T (n.*523G>T) c.813G>T (p.Leu271Phe) n.576G>T c.898G>T c.606G>T (p.Leu202Phe) c.633G>T (p.Leu211Phe) c.567G>T (p.Leu189Phe) | |
| 4 | g.16018485C>G | CA356420134 | PROM1 | c.840G>C (p.Leu280Phe) c.*523G>C (n.*523G>C) c.813G>C (p.Leu271Phe) n.576G>C c.898G>C c.606G>C (p.Leu202Phe) c.633G>C (p.Leu211Phe) c.567G>C (p.Leu189Phe) | |
| 4 | g.16018485C>T | CA438381959 | PROM1 | c.840G>A (p.Leu280=) c.*523G>A (n.*523G>A) c.813G>A (p.Leu271=) n.576G>A c.898G>A c.606G>A (p.Leu202=) c.633G>A (p.Leu211=) c.567G>A (p.Leu189=) | |
| 4 | g.16018486A>C | CA356420143 | PROM1 | c.839T>G (p.Leu280Trp) c.*522T>G (n.*522T>G) c.812T>G (p.Leu271Trp) n.575T>G c.897T>G c.605T>G (p.Leu202Trp) c.632T>G (p.Leu211Trp) c.566T>G (p.Leu189Trp) | |
| 4 | g.16018486A>G | CA356420149 | PROM1 | c.839T>C (p.Leu280Ser) c.*522T>C (n.*522T>C) c.812T>C (p.Leu271Ser) n.575T>C c.897T>C c.605T>C (p.Leu202Ser) c.632T>C (p.Leu211Ser) c.566T>C (p.Leu189Ser) | |
| 4 | g.16018486A>T | CA356420148 | PROM1 | c.839T>A (p.Leu280Ter) c.*522T>A (n.*522T>A) c.812T>A (p.Leu271Ter) n.575T>A c.897T>A c.605T>A (p.Leu202Ter) c.632T>A (p.Leu211Ter) c.566T>A (p.Leu189Ter) | |
| 4 | g.16018487A>C | CA356420150 | PROM1 | c.838T>G (p.Leu280Val) c.*521T>G (n.*521T>G) c.811T>G (p.Leu271Val) n.574T>G c.896T>G c.604T>G (p.Leu202Val) c.631T>G (p.Leu211Val) c.565T>G (p.Leu189Val) | |
| 4 | g.16018487A>G | CA438381969 | PROM1 | c.838T>C (p.Leu280=) c.*521T>C (n.*521T>C) c.811T>C (p.Leu271=) n.574T>C c.896T>C c.604T>C (p.Leu202=) c.631T>C (p.Leu211=) c.565T>C (p.Leu189=) | |
| 4 | g.16018487A>T | CA356420151 | PROM1 | c.838T>A (p.Leu280Met) c.*521T>A (n.*521T>A) c.811T>A (p.Leu271Met) n.574T>A c.896T>A c.604T>A (p.Leu202Met) c.631T>A (p.Leu211Met) c.565T>A (p.Leu189Met) | |
| 4 | g.16018488G>A | CA92563128 | PROM1 | c.837C>T (p.Ser279=) c.*520C>T (n.*520C>T) c.810C>T (p.Ser270=) n.573C>T c.895C>T c.603C>T (p.Ser201=) c.630C>T (p.Ser210=) c.564C>T (p.Ser188=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.16018488G>C | CA356420154 | PROM1 | c.837C>G (p.Ser279Arg) c.*520C>G (n.*520C>G) c.810C>G (p.Ser270Arg) n.573C>G c.895C>G c.603C>G (p.Ser201Arg) c.630C>G (p.Ser210Arg) c.564C>G (p.Ser188Arg) | |
| 4 | g.16018488G= | CA1440922202 | PROM1 | c.837C= (p.Ser279=) c.*520C= (n.*520C=) c.810C= (p.Ser270=) n.573C= c.895C= c.603C= (p.Ser201=) c.630C= (p.Ser210=) c.564C= (p.Ser188=) | |
| 4 | g.16018488G>T | CA356420158 | PROM1 | c.837C>A (p.Ser279Arg) c.*520C>A (n.*520C>A) c.810C>A (p.Ser270Arg) n.573C>A c.895C>A c.603C>A (p.Ser201Arg) c.630C>A (p.Ser210Arg) c.564C>A (p.Ser188Arg) | |
| 4 | g.16018489C>A | CA356420165 | PROM1 | c.836G>T (p.Ser279Ile) c.*519G>T (n.*519G>T) c.809G>T (p.Ser270Ile) n.572G>T c.894G>T c.602G>T (p.Ser201Ile) c.629G>T (p.Ser210Ile) c.563G>T (p.Ser188Ile) | gnomAD v4 |
| 4 | g.16018489C= | CA1440922203 | PROM1 | c.836G= (p.Ser279=) c.*519G= (n.*519G=) c.809G= (p.Ser270=) n.572G= c.894G= c.602G= (p.Ser201=) c.629G= (p.Ser210=) c.563G= (p.Ser188=) | |
| 4 | g.16018489C>G | CA356420180 | PROM1 | c.836G>C (p.Ser279Thr) c.*519G>C (n.*519G>C) c.809G>C (p.Ser270Thr) n.572G>C c.894G>C c.602G>C (p.Ser201Thr) c.629G>C (p.Ser210Thr) c.563G>C (p.Ser188Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16018489C>T | CA356420185 | PROM1 | c.836G>A (p.Ser279Asn) c.*519G>A (n.*519G>A) c.809G>A (p.Ser270Asn) n.572G>A c.894G>A c.602G>A (p.Ser201Asn) c.629G>A (p.Ser210Asn) c.563G>A (p.Ser188Asn) | |
| 4 | g.16018490T>A | CA356420191 | PROM1 | c.835A>T (p.Ser279Cys) c.*518A>T (n.*518A>T) c.808A>T (p.Ser270Cys) n.571A>T c.893A>T c.601A>T (p.Ser201Cys) c.628A>T (p.Ser210Cys) c.562A>T (p.Ser188Cys) | |
| 4 | g.16018490T>C | CA92563133 | PROM1 | c.835A>G (p.Ser279Gly) c.*518A>G (n.*518A>G) c.808A>G (p.Ser270Gly) n.571A>G c.893A>G c.601A>G (p.Ser201Gly) c.628A>G (p.Ser210Gly) c.562A>G (p.Ser188Gly) | ClinVar dbSNP gnomAD v4 |
| 4 | g.16018490T>G | CA356420194 | PROM1 | c.835A>C (p.Ser279Arg) c.*518A>C (n.*518A>C) c.808A>C (p.Ser270Arg) n.571A>C c.893A>C c.601A>C (p.Ser201Arg) c.628A>C (p.Ser210Arg) c.562A>C (p.Ser188Arg) | |
| 4 | g.16018490T= | CA1440922204 | PROM1 | c.835A= (p.Ser279=) c.*518A= (n.*518A=) c.808A= (p.Ser270=) n.571A= c.893A= c.601A= (p.Ser201=) c.628A= (p.Ser210=) c.562A= (p.Ser188=) | |
| 4 | g.16018491C>A | CA356420199 | PROM1 | c.834G>T (p.Lys278Asn) c.*517G>T (n.*517G>T) c.807G>T (p.Lys269Asn) n.570G>T c.892G>T c.600G>T (p.Lys200Asn) c.627G>T (p.Lys209Asn) c.561G>T (p.Lys187Asn) | |
| 4 | g.16018491C>G | CA356420201 | PROM1 | c.834G>C (p.Lys278Asn) c.*517G>C (n.*517G>C) c.807G>C (p.Lys269Asn) n.570G>C c.892G>C c.600G>C (p.Lys200Asn) c.627G>C (p.Lys209Asn) c.561G>C (p.Lys187Asn) | |
| 4 | g.16018491C>T | CA438381988 | PROM1 | c.834G>A (p.Lys278=) c.*517G>A (n.*517G>A) c.807G>A (p.Lys269=) n.570G>A c.892G>A c.600G>A (p.Lys200=) c.627G>A (p.Lys209=) c.561G>A (p.Lys187=) | |
| 4 | g.16018492T>A | CA356420205 | PROM1 | c.833A>T (p.Lys278Met) c.*516A>T (n.*516A>T) c.806A>T (p.Lys269Met) n.569A>T c.891A>T c.599A>T (p.Lys200Met) c.626A>T (p.Lys209Met) c.560A>T (p.Lys187Met) | |
| 4 | g.16018492T>C | CA356420207 | PROM1 | c.833A>G (p.Lys278Arg) c.*516A>G (n.*516A>G) c.806A>G (p.Lys269Arg) n.569A>G c.891A>G c.599A>G (p.Lys200Arg) c.626A>G (p.Lys209Arg) c.560A>G (p.Lys187Arg) | |
| 4 | g.16018492T>G | CA356420206 | PROM1 | c.833A>C (p.Lys278Thr) c.*516A>C (n.*516A>C) c.806A>C (p.Lys269Thr) n.569A>C c.891A>C c.599A>C (p.Lys200Thr) c.626A>C (p.Lys209Thr) c.560A>C (p.Lys187Thr) | |
| 4 | g.16018493T>A | CA356420209 | PROM1 | c.832A>T (p.Lys278Ter) c.*515A>T (n.*515A>T) c.805A>T (p.Lys269Ter) n.568A>T c.890A>T c.598A>T (p.Lys200Ter) c.625A>T (p.Lys209Ter) c.559A>T (p.Lys187Ter) | |
| 4 | g.16018493T>C | CA356420210 | PROM1 | c.832A>G (p.Lys278Glu) c.*515A>G (n.*515A>G) c.805A>G (p.Lys269Glu) n.568A>G c.890A>G c.598A>G (p.Lys200Glu) c.625A>G (p.Lys209Glu) c.559A>G (p.Lys187Glu) | |
| 4 | g.16018493T>G | CA356420213 | PROM1 | c.832A>C (p.Lys278Gln) c.*515A>C (n.*515A>C) c.805A>C (p.Lys269Gln) n.568A>C c.890A>C c.598A>C (p.Lys200Gln) c.625A>C (p.Lys209Gln) c.559A>C (p.Lys187Gln) | |
| 4 | g.16018494C>A | CA356420214 | PROM1 | c.831G>T (p.Leu277Phe) c.*514G>T (n.*514G>T) c.804G>T (p.Leu268Phe) n.567G>T c.889G>T c.597G>T (p.Leu199Phe) c.624G>T (p.Leu208Phe) c.558G>T (p.Leu186Phe) | |
| 4 | g.16018494C>G | CA356420215 | PROM1 | c.831G>C (p.Leu277Phe) c.*514G>C (n.*514G>C) c.804G>C (p.Leu268Phe) n.567G>C c.889G>C c.597G>C (p.Leu199Phe) c.624G>C (p.Leu208Phe) c.558G>C (p.Leu186Phe) | |
| 4 | g.16018494C>T | CA438381999 | PROM1 | c.831G>A (p.Leu277=) c.*514G>A (n.*514G>A) c.804G>A (p.Leu268=) n.567G>A c.889G>A c.597G>A (p.Leu199=) c.624G>A (p.Leu208=) c.558G>A (p.Leu186=) | |
| 4 | g.16018495A= | CA1440922205 | PROM1 | c.830T= (p.Leu277=) c.*513T= (n.*513T=) c.803T= (p.Leu268=) n.566T= c.888T= c.596T= (p.Leu199=) c.623T= (p.Leu208=) c.557T= (p.Leu186=) | |
| 4 | g.16018495A>C | CA356420219 | PROM1 | c.830T>G (p.Leu277Trp) c.*513T>G (n.*513T>G) c.803T>G (p.Leu268Trp) n.566T>G c.888T>G c.596T>G (p.Leu199Trp) c.623T>G (p.Leu208Trp) c.557T>G (p.Leu186Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.16018495A>G | CA356420221 | PROM1 | c.830T>C (p.Leu277Ser) c.*513T>C (n.*513T>C) c.803T>C (p.Leu268Ser) n.566T>C c.888T>C c.596T>C (p.Leu199Ser) c.623T>C (p.Leu208Ser) c.557T>C (p.Leu186Ser) | |
| 4 | g.16018495A>T | CA356420224 | PROM1 | c.830T>A (p.Leu277Ter) c.*513T>A (n.*513T>A) c.803T>A (p.Leu268Ter) n.566T>A c.888T>A c.596T>A (p.Leu199Ter) c.623T>A (p.Leu208Ter) c.557T>A (p.Leu186Ter) | |
| 4 | g.16018496A= | CA1440922206 | PROM1 | c.829T= (p.Leu277=) c.*512T= (n.*512T=) c.802T= (p.Leu268=) n.565T= c.887T= c.595T= (p.Leu199=) c.622T= (p.Leu208=) c.556T= (p.Leu186=) | |
| 4 | g.16018496A>C | CA356420228 | PROM1 | c.829T>G (p.Leu277Val) c.*512T>G (n.*512T>G) c.802T>G (p.Leu268Val) n.565T>G c.887T>G c.595T>G (p.Leu199Val) c.622T>G (p.Leu208Val) c.556T>G (p.Leu186Val) | |
| 4 | g.16018496A>G | CA438382007 | PROM1 | c.829T>C (p.Leu277=) c.*512T>C (n.*512T>C) c.802T>C (p.Leu268=) n.565T>C c.887T>C c.595T>C (p.Leu199=) c.622T>C (p.Leu208=) c.556T>C (p.Leu186=) | gnomAD v4 |
| 4 | g.16018496A>T | CA356420237 | PROM1 | c.829T>A (p.Leu277Met) c.*512T>A (n.*512T>A) c.802T>A (p.Leu268Met) n.565T>A c.887T>A c.595T>A (p.Leu199Met) c.622T>A (p.Leu208Met) c.556T>A (p.Leu186Met) | |
| 4 | g.16018497G>A | CA438382013 | PROM1 | c.828C>T (p.Thr276=) c.*511C>T (n.*511C>T) c.801C>T (p.Thr267=) n.564C>T c.886C>T c.594C>T (p.Thr198=) c.621C>T (p.Thr207=) c.555C>T (p.Thr185=) | dbSNP gnomAD v4 |
| 4 | g.16018497G>C | CA438382015 | PROM1 | c.828C>G (p.Thr276=) c.*511C>G (n.*511C>G) c.801C>G (p.Thr267=) n.564C>G c.886C>G c.594C>G (p.Thr198=) c.621C>G (p.Thr207=) c.555C>G (p.Thr185=) | |
| 4 | g.16018497G= | CA1440922207 | PROM1 | c.828C= (p.Thr276=) c.*511C= (n.*511C=) c.801C= (p.Thr267=) n.564C= c.886C= c.594C= (p.Thr198=) c.621C= (p.Thr207=) c.555C= (p.Thr185=) | |
| 4 | g.16018497G>T | CA438382016 | PROM1 | c.828C>A (p.Thr276=) c.*511C>A (n.*511C>A) c.801C>A (p.Thr267=) n.564C>A c.886C>A c.594C>A (p.Thr198=) c.621C>A (p.Thr207=) c.555C>A (p.Thr185=) | gnomAD v4 |
| 4 | g.16018497_16018498dup | CA438382010 | PROM1 | c.827_828dup (p.Leu277ProfsTer2) c.*510_*511dup (n.*510_*511dup) c.800_801dup (p.Leu268ProfsTer2) n.563_564dup c.885_886dup c.593_594dup (p.Leu199ProfsTer2) c.620_621dup (p.Leu208ProfsTer2) c.554_555dup (p.Leu186ProfsTer2) | dbSNP gnomAD v4 |
| 4 | g.16018498G>A | CA356420242 | PROM1 | c.827C>T (p.Thr276Ile) c.*510C>T (n.*510C>T) c.800C>T (p.Thr267Ile) n.563C>T c.885C>T c.593C>T (p.Thr198Ile) c.620C>T (p.Thr207Ile) c.554C>T (p.Thr185Ile) | |
| 4 | g.16018498G>C | CA356420244 | PROM1 | c.827C>G (p.Thr276Ser) c.*510C>G (n.*510C>G) c.800C>G (p.Thr267Ser) n.563C>G c.885C>G c.593C>G (p.Thr198Ser) c.620C>G (p.Thr207Ser) c.554C>G (p.Thr185Ser) | |
| 4 | g.16018498G>T | CA356420240 | PROM1 | c.827C>A (p.Thr276Asn) c.*510C>A (n.*510C>A) c.800C>A (p.Thr267Asn) n.563C>A c.885C>A c.593C>A (p.Thr198Asn) c.620C>A (p.Thr207Asn) c.554C>A (p.Thr185Asn) | |
| 4 | g.16018500_16018504del | CA2760554034 | PROM1 | c.823_827del (p.Ser275LeufsTer12) c.*506_*510del (n.*506_*510del) c.796_800del (p.Ser266LeufsTer12) n.559_563del c.881_885del c.589_593del (p.Ser197LeufsTer12) c.616_620del (p.Ser206LeufsTer12) c.550_554del (p.Ser184LeufsTer12) | |
| 4 | g.16018499T>A | CA356420247 | PROM1 | c.826A>T (p.Thr276Ser) c.*509A>T (n.*509A>T) c.799A>T (p.Thr267Ser) n.562A>T c.884A>T c.592A>T (p.Thr198Ser) c.619A>T (p.Thr207Ser) c.553A>T (p.Thr185Ser) | |
| 4 | g.16018499T>C | CA356420250 | PROM1 | c.826A>G (p.Thr276Ala) c.*509A>G (n.*509A>G) c.799A>G (p.Thr267Ala) n.562A>G c.884A>G c.592A>G (p.Thr198Ala) c.619A>G (p.Thr207Ala) c.553A>G (p.Thr185Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.16018499T>G | CA92563136 | PROM1 | c.826A>C (p.Thr276Pro) c.*509A>C (n.*509A>C) c.799A>C (p.Thr267Pro) n.562A>C c.884A>C c.592A>C (p.Thr198Pro) c.619A>C (p.Thr207Pro) c.553A>C (p.Thr185Pro) | dbSNP |
| 4 | g.16018499T= | CA1440922208 | PROM1 | c.826A= (p.Thr276=) c.*509A= (n.*509A=) c.799A= (p.Thr267=) n.562A= c.884A= c.592A= (p.Thr198=) c.619A= (p.Thr207=) c.553A= (p.Thr185=) | |
| 4 | g.16018500G>A | CA438382029 | PROM1 | c.825C>T (p.Ser275=) c.*508C>T (n.*508C>T) c.798C>T (p.Ser266=) n.561C>T c.883C>T c.591C>T (p.Ser197=) c.618C>T (p.Ser206=) c.552C>T (p.Ser184=) | |
| 4 | g.16018500G>C | CA356420270 | PROM1 | c.825C>G (p.Ser275Arg) c.*508C>G (n.*508C>G) c.798C>G (p.Ser266Arg) n.561C>G c.883C>G c.591C>G (p.Ser197Arg) c.618C>G (p.Ser206Arg) c.552C>G (p.Ser184Arg) | |
| 4 | g.16018500G>T | CA356420274 | PROM1 | c.825C>A (p.Ser275Arg) c.*508C>A (n.*508C>A) c.798C>A (p.Ser266Arg) n.561C>A c.883C>A c.591C>A (p.Ser197Arg) c.618C>A (p.Ser206Arg) c.552C>A (p.Ser184Arg) | |
| 4 | g.16018501C>A | CA356420292 | PROM1 | c.824G>T (p.Ser275Ile) c.*507G>T (n.*507G>T) c.797G>T (p.Ser266Ile) n.560G>T c.882G>T c.590G>T (p.Ser197Ile) c.617G>T (p.Ser206Ile) c.551G>T (p.Ser184Ile) | |
| 4 | g.16018501C>G | CA356420291 | PROM1 | c.824G>C (p.Ser275Thr) c.*507G>C (n.*507G>C) c.797G>C (p.Ser266Thr) n.560G>C c.882G>C c.590G>C (p.Ser197Thr) c.617G>C (p.Ser206Thr) c.551G>C (p.Ser184Thr) | |
| 4 | g.16018501C>T | CA356420290 | PROM1 | c.824G>A (p.Ser275Asn) c.*507G>A (n.*507G>A) c.797G>A (p.Ser266Asn) n.560G>A c.882G>A c.590G>A (p.Ser197Asn) c.617G>A (p.Ser206Asn) c.551G>A (p.Ser184Asn) | |
| 4 | g.16018502T>A | CA356420295 | PROM1 | c.823A>T (p.Ser275Cys) c.*506A>T (n.*506A>T) c.796A>T (p.Ser266Cys) n.559A>T c.881A>T c.589A>T (p.Ser197Cys) c.616A>T (p.Ser206Cys) c.550A>T (p.Ser184Cys) | |
| 4 | g.16018502T>C | CA356420297 | PROM1 | c.823A>G (p.Ser275Gly) c.*506A>G (n.*506A>G) c.796A>G (p.Ser266Gly) n.559A>G c.881A>G c.589A>G (p.Ser197Gly) c.616A>G (p.Ser206Gly) c.550A>G (p.Ser184Gly) | ClinVar dbSNP gnomAD v4 |
| 4 | g.16018502T>G | CA356420298 | PROM1 | c.823A>C (p.Ser275Arg) c.*506A>C (n.*506A>C) c.796A>C (p.Ser266Arg) n.559A>C c.881A>C c.589A>C (p.Ser197Arg) c.616A>C (p.Ser206Arg) c.550A>C (p.Ser184Arg) | |
| 4 | g.16018502T= | CA1440922209 | PROM1 | c.823A= (p.Ser275=) c.*506A= (n.*506A=) c.796A= (p.Ser266=) n.559A= c.881A= c.589A= (p.Ser197=) c.616A= (p.Ser206=) c.550A= (p.Ser184=) | |
| 4 | g.16018503G>A | CA2866937 | PROM1 | c.822C>T (p.Asn274=) c.*505C>T (n.*505C>T) c.795C>T (p.Asn265=) n.558C>T c.880C>T c.588C>T (p.Asn196=) c.615C>T (p.Asn205=) c.549C>T (p.Asn183=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16018503G>C | CA356420302 | PROM1 | c.822C>G (p.Asn274Lys) c.*505C>G (n.*505C>G) c.795C>G (p.Asn265Lys) n.558C>G c.880C>G c.588C>G (p.Asn196Lys) c.615C>G (p.Asn205Lys) c.549C>G (p.Asn183Lys) | |
| 4 | g.16018503G= | CA1440922210 | PROM1 | c.822C= (p.Asn274=) c.*505C= (n.*505C=) c.795C= (p.Asn265=) n.558C= c.880C= c.588C= (p.Asn196=) c.615C= (p.Asn205=) c.549C= (p.Asn183=) | |
| 4 | g.16018503G>T | CA356420308 | PROM1 | c.822C>A (p.Asn274Lys) c.*505C>A (n.*505C>A) c.795C>A (p.Asn265Lys) n.558C>A c.880C>A c.588C>A (p.Asn196Lys) c.615C>A (p.Asn205Lys) c.549C>A (p.Asn183Lys) | |
| 4 | g.16018504T>A | CA356420311 | PROM1 | c.821A>T (p.Asn274Ile) c.*504A>T (n.*504A>T) c.794A>T (p.Asn265Ile) n.557A>T c.879A>T c.587A>T (p.Asn196Ile) c.614A>T (p.Asn205Ile) c.548A>T (p.Asn183Ile) | gnomAD v4 |
| 4 | g.16018504T>C | CA356420323 | PROM1 | c.821A>G (p.Asn274Ser) c.*504A>G (n.*504A>G) c.794A>G (p.Asn265Ser) n.557A>G c.879A>G c.587A>G (p.Asn196Ser) c.614A>G (p.Asn205Ser) c.548A>G (p.Asn183Ser) | gnomAD v4 |
| 4 | g.16018504T>G | CA356420319 | PROM1 | c.821A>C (p.Asn274Thr) c.*504A>C (n.*504A>C) c.794A>C (p.Asn265Thr) n.557A>C c.879A>C c.587A>C (p.Asn196Thr) c.614A>C (p.Asn205Thr) c.548A>C (p.Asn183Thr) | |
| 4 | g.16018505T>A | CA356420328 | PROM1 | c.820A>T (p.Asn274Tyr) c.*503A>T (n.*503A>T) c.793A>T (p.Asn265Tyr) n.556A>T c.878A>T c.586A>T (p.Asn196Tyr) c.613A>T (p.Asn205Tyr) c.547A>T (p.Asn183Tyr) | |
| 4 | g.16018505T>C | CA2866938 | PROM1 | c.820A>G (p.Asn274Asp) c.*503A>G (n.*503A>G) c.793A>G (p.Asn265Asp) n.556A>G c.878A>G c.586A>G (p.Asn196Asp) c.613A>G (p.Asn205Asp) c.547A>G (p.Asn183Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16018505T>G | CA356420334 | PROM1 | c.820A>C (p.Asn274His) c.*503A>C (n.*503A>C) c.793A>C (p.Asn265His) n.556A>C c.878A>C c.586A>C (p.Asn196His) c.613A>C (p.Asn205His) c.547A>C (p.Asn183His) | |
| 4 | g.16018505T= | CA1440922211 | PROM1 | c.820A= (p.Asn274=) c.*503A= (n.*503A=) c.793A= (p.Asn265=) n.556A= c.878A= c.586A= (p.Asn196=) c.613A= (p.Asn205=) c.547A= (p.Asn183=) | |
| 4 | g.16018506C>A | CA356420337 | PROM1 | c.819G>T (p.Met273Ile) c.*502G>T (n.*502G>T) c.792G>T (p.Met264Ile) n.555G>T c.877G>T c.585G>T (p.Met195Ile) c.612G>T (p.Met204Ile) c.546G>T (p.Met182Ile) | gnomAD v4 |
| 4 | g.16018506C>G | CA356420342 | PROM1 | c.819G>C (p.Met273Ile) c.*502G>C (n.*502G>C) c.792G>C (p.Met264Ile) n.555G>C c.877G>C c.585G>C (p.Met195Ile) c.612G>C (p.Met204Ile) c.546G>C (p.Met182Ile) | |
| 4 | g.16018506C>T | CA356420345 | PROM1 | c.819G>A (p.Met273Ile) c.*502G>A (n.*502G>A) c.792G>A (p.Met264Ile) n.555G>A c.877G>A c.585G>A (p.Met195Ile) c.612G>A (p.Met204Ile) c.546G>A (p.Met182Ile) | |
| 4 | g.16018507A= | CA1440922212 | PROM1 | c.818T= (p.Met273=) c.*501T= (n.*501T=) c.791T= (p.Met264=) n.554T= c.876T= c.584T= (p.Met195=) c.611T= (p.Met204=) c.545T= (p.Met182=) | |
| 4 | g.16018507A>C | CA356420350 | PROM1 | c.818T>G (p.Met273Arg) c.*501T>G (n.*501T>G) c.791T>G (p.Met264Arg) n.554T>G c.876T>G c.584T>G (p.Met195Arg) c.611T>G (p.Met204Arg) c.545T>G (p.Met182Arg) | |
| 4 | g.16018507A>G | CA2866939 | PROM1 | c.818T>C (p.Met273Thr) c.*501T>C (n.*501T>C) c.791T>C (p.Met264Thr) n.554T>C c.876T>C c.584T>C (p.Met195Thr) c.611T>C (p.Met204Thr) c.545T>C (p.Met182Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16018507A>T | CA356420353 | PROM1 | c.818T>A (p.Met273Lys) c.*501T>A (n.*501T>A) c.791T>A (p.Met264Lys) n.554T>A c.876T>A c.584T>A (p.Met195Lys) c.611T>A (p.Met204Lys) c.545T>A (p.Met182Lys) | ClinVar dbSNP gnomAD v4 |
| 4 | g.16018508T>A | CA356420356 | PROM1 | c.817A>T (p.Met273Leu) c.*500A>T (n.*500A>T) c.790A>T (p.Met264Leu) n.553A>T c.875A>T c.583A>T (p.Met195Leu) c.610A>T (p.Met204Leu) c.544A>T (p.Met182Leu) | |
| 4 | g.16018508T>C | CA356420360 | PROM1 | c.817A>G (p.Met273Val) c.*500A>G (n.*500A>G) c.790A>G (p.Met264Val) n.553A>G c.875A>G c.583A>G (p.Met195Val) c.610A>G (p.Met204Val) c.544A>G (p.Met182Val) | ClinVar gnomAD v4 |
| 4 | g.16018508T>G | CA356420364 | PROM1 | c.817A>C (p.Met273Leu) c.*500A>C (n.*500A>C) c.790A>C (p.Met264Leu) n.553A>C c.875A>C c.583A>C (p.Met195Leu) c.610A>C (p.Met204Leu) c.544A>C (p.Met182Leu) | |
| 4 | g.16018509G>A | CA438382049 | PROM1 | c.816C>T (p.Asn272=) c.*499C>T (n.*499C>T) c.789C>T (p.Asn263=) n.552C>T c.874C>T c.582C>T (p.Asn194=) c.609C>T (p.Asn203=) c.543C>T (p.Asn181=) | |
| 4 | g.16018509G>C | CA356420369 | PROM1 | c.816C>G (p.Asn272Lys) c.*499C>G (n.*499C>G) c.789C>G (p.Asn263Lys) n.552C>G c.874C>G c.582C>G (p.Asn194Lys) c.609C>G (p.Asn203Lys) c.543C>G (p.Asn181Lys) | |
| 4 | g.16018509G= | CA1440922213 | PROM1 | c.816C= (p.Asn272=) c.*499C= (n.*499C=) c.789C= (p.Asn263=) n.552C= c.874C= c.582C= (p.Asn194=) c.609C= (p.Asn203=) c.543C= (p.Asn181=) | |
| 4 | g.16018509G>T | CA356420367 | PROM1 | c.816C>A (p.Asn272Lys) c.*499C>A (n.*499C>A) c.789C>A (p.Asn263Lys) n.552C>A c.874C>A c.582C>A (p.Asn194Lys) c.609C>A (p.Asn203Lys) c.543C>A (p.Asn181Lys) | COSMIC COSMIC |
| 4 | g.16018509_16018510insAGC | CA917137498 | PROM1 | c.815_816insGCT (p.Asn272delinsLysLeu) c.*498_*499insGCT (n.*498_*499insGCT) c.788_789insGCT (p.Asn263delinsLysLeu) n.551_552insGCT c.873_874insGCT c.581_582insGCT (p.Asn194delinsLysLeu) c.608_609insGCT (p.Asn203delinsLysLeu) c.542_543insGCT (p.Asn181delinsLysLeu) | dbSNP |
| 4 | g.16018510T>A | CA356420373 | PROM1 | c.815A>T (p.Asn272Ile) c.*498A>T (n.*498A>T) c.788A>T (p.Asn263Ile) n.551A>T c.873A>T c.581A>T (p.Asn194Ile) c.608A>T (p.Asn203Ile) c.542A>T (p.Asn181Ile) | |
| 4 | g.16018510T>C | CA2866940 | PROM1 | c.815A>G (p.Asn272Ser) c.*498A>G (n.*498A>G) c.788A>G (p.Asn263Ser) n.551A>G c.873A>G c.581A>G (p.Asn194Ser) c.608A>G (p.Asn203Ser) c.542A>G (p.Asn181Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.16018510T>G | CA356420374 | PROM1 | c.815A>C (p.Asn272Thr) c.*498A>C (n.*498A>C) c.788A>C (p.Asn263Thr) n.551A>C c.873A>C c.581A>C (p.Asn194Thr) c.608A>C (p.Asn203Thr) c.542A>C (p.Asn181Thr) | |
| 4 | g.16018510T= | CA1440922214 | PROM1 | c.815A= (p.Asn272=) c.*498A= (n.*498A=) c.788A= (p.Asn263=) n.551A= c.873A= c.581A= (p.Asn194=) c.608A= (p.Asn203=) c.542A= (p.Asn181=) | |
| 4 | g.16018511T>A | CA356420375 | PROM1 | c.814A>T (p.Asn272Tyr) c.*497A>T (n.*497A>T) c.787A>T (p.Asn263Tyr) n.550A>T c.872A>T c.580A>T (p.Asn194Tyr) c.607A>T (p.Asn203Tyr) c.541A>T (p.Asn181Tyr) | gnomAD v4 |
| 4 | g.16018511T>C | CA356420376 | PROM1 | c.814A>G (p.Asn272Asp) c.*497A>G (n.*497A>G) c.787A>G (p.Asn263Asp) n.550A>G c.872A>G c.580A>G (p.Asn194Asp) c.607A>G (p.Asn203Asp) c.541A>G (p.Asn181Asp) | gnomAD v4 |
| 4 | g.16018511T>G | CA356420379 | PROM1 | c.814A>C (p.Asn272His) c.*497A>C (n.*497A>C) c.787A>C (p.Asn263His) n.550A>C c.872A>C c.580A>C (p.Asn194His) c.607A>C (p.Asn203His) c.541A>C (p.Asn181His) |