UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177994131G>A | CA362378991 | PROP1 | c.317C>T (p.Thr106Ile) | |
| 5 | g.177994131G>C | CA362378992 | PROP1 | c.317C>G (p.Thr106Ser) | |
| 5 | g.177994131G>T | CA362378990 | PROP1 | c.317C>A (p.Thr106Asn) | |
| 5 | g.177994132T>A | CA362378995 | PROP1 | c.316A>T (p.Thr106Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177994132T>C | CA362378993 | PROP1 | c.316A>G (p.Thr106Ala) | |
| 5 | g.177994132T>G | CA362378994 | PROP1 | c.316A>C (p.Thr106Pro) | |
| 5 | g.177994132T= | CA1603814525 | PROP1 | c.316A= (p.Thr106=) | |
| 5 | g.177994133G>A | CA447990695 | PROP1 | c.315C>T (p.Asp105=) | |
| 5 | g.177994133G>C | CA362378996 | PROP1 | c.315C>G (p.Asp105Glu) | |
| 5 | g.177994133G>T | CA362378997 | PROP1 | c.315C>A (p.Asp105Glu) | gnomAD v4 |
| 5 | g.177994134T>A | CA362378998 | PROP1 | c.314A>T (p.Asp105Val) | |
| 5 | g.177994134T>C | CA362378999 | PROP1 | c.314A>G (p.Asp105Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177994134T>G | CA362379000 | PROP1 | c.314A>C (p.Asp105Ala) | gnomAD v4 |
| 5 | g.177994134T= | CA1603814526 | PROP1 | c.314A= (p.Asp105=) | |
| 5 | g.177994135C>A | CA362379001 | PROP1 | c.313G>T (p.Asp105Tyr) | |
| 5 | g.177994135C>G | CA362379002 | PROP1 | c.313G>C (p.Asp105His) | |
| 5 | g.177994135C>T | CA362379003 | PROP1 | c.313G>A (p.Asp105Asn) | |
| 5 | g.177994136C>A | CA447990712 | PROP1 | c.312G>T (p.Arg104=) | |
| 5 | g.177994136C= | CA1603814527 | PROP1 | c.312G= (p.Arg104=) | |
| 5 | g.177994136C>G | CA3587560 | PROP1 | c.312G>C (p.Arg104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177994136C>T | CA447990709 | PROP1 | c.312G>A (p.Arg104=) | gnomAD v4 |
| 5 | g.177994137C>A | CA362379005 | PROP1 | c.311G>T (p.Arg104Leu) | |
| 5 | g.177994137C= | CA1603814528 | PROP1 | c.311G= (p.Arg104=) | |
| 5 | g.177994137C>G | CA362379004 | PROP1 | c.311G>C (p.Arg104Pro) | |
| 5 | g.177994137C>T | CA3587561 | PROP1 | c.311G>A (p.Arg104Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177994137_177994138delinsCG | CA1603814529 | PROP1 | c.310_311delinsCG (p.Arg104=) | |
| 5 | g.177994138G>A | CA3587562 | PROP1 | c.310C>T (p.Arg104Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177994138G>C | CA362379006 | PROP1 | c.310C>G (p.Arg104Gly) | |
| 5 | g.177994138G= | CA1603814530 | PROP1 | c.310C= (p.Arg104=) | |
| 5 | g.177994138G>T | CA447990720 | PROP1 | c.310C>A (p.Arg104=) | ClinVar |
| 5 | g.177994140del | CA346835 | PROP1 | c.310del (p.Arg104GlyfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177994139G>A | CA447990726 | PROP1 | c.309C>T (p.Ala103=) | ClinVar gnomAD v4 |
| 5 | g.177994139G>C | CA447990728 | PROP1 | c.309C>G (p.Ala103=) | |
| 5 | g.177994139G>T | CA447990730 | PROP1 | c.309C>A (p.Ala103=) | |
| 5 | g.177994140G>A | CA362379007 | PROP1 | c.308C>T (p.Ala103Val) | gnomAD v4 |
| 5 | g.177994140G>C | CA362379008 | PROP1 | c.308C>G (p.Ala103Gly) | |
| 5 | g.177994140G>T | CA362379009 | PROP1 | c.308C>A (p.Ala103Asp) | |
| 5 | g.177994141C>A | CA362379010 | PROP1 | c.307G>T (p.Ala103Ser) | |
| 5 | g.177994141C>G | CA362379011 | PROP1 | c.307G>C (p.Ala103Pro) | |
| 5 | g.177994141C>T | CA362379012 | PROP1 | c.307G>A (p.Ala103Thr) | |
| 5 | g.177994142A= | CA1603814531 | PROP1 | c.306T= (p.Leu102=) | |
| 5 | g.177994142A>C | CA3587563 | PROP1 | c.306T>G (p.Leu102=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177994142A>G | CA447990743 | PROP1 | c.306T>C (p.Leu102=) | ClinVar |
| 5 | g.177994142A>T | CA447990745 | PROP1 | c.306T>A (p.Leu102=) | |
| 5 | g.177994143A>C | CA362379013 | PROP1 | c.305T>G (p.Leu102Arg) | |
| 5 | g.177994143A>G | CA362379014 | PROP1 | c.305T>C (p.Leu102Pro) | COSMIC |
| 5 | g.177994143A>T | CA362379015 | PROP1 | c.305T>A (p.Leu102His) | |
| 5 | g.177994144G>A | CA362379017 | PROP1 | c.304C>T (p.Leu102Phe) | |
| 5 | g.177994144G>C | CA362379018 | PROP1 | c.304C>G (p.Leu102Val) | |
| 5 | g.177994144G>T | CA362379016 | PROP1 | c.304C>A (p.Leu102Ile) | |
| 5 | g.177994145A= | CA1603814532 | PROP1 | c.303T= (p.Ser101=) | |
| 5 | g.177994145A>C | CA362379019 | PROP1 | c.303T>G (p.Ser101Arg) | |
| 5 | g.177994145A>G | CA3587564 | PROP1 | c.303T>C (p.Ser101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177994145A>T | CA362379020 | PROP1 | c.303T>A (p.Ser101Arg) | |
| 5 | g.177994145_177994147delinsACT | CA1603814533 | PROP1 | c.301_303delinsAGT (p.Ser101=) | |
| 5 | g.177994146C>A | CA362379021 | PROP1 | c.302G>T (p.Ser101Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177994146C>G | CA362379022 | PROP1 | c.302G>C (p.Ser101Thr) | |
| 5 | g.177994146C>T | CA362379023 | PROP1 | c.302G>A (p.Ser101Asn) | |
| 5 | g.177994151_177994152del | CA214191 | PROP1 | c.301_302del (p.Leu102CysfsTer8) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177994147T>A | CA362379024 | PROP1 | c.301A>T (p.Ser101Cys) | |
| 5 | g.177994147T>C | CA362379025 | PROP1 | c.301A>G (p.Ser101Gly) | |
| 5 | g.177994147T>G | CA362379026 | PROP1 | c.301A>C (p.Ser101Arg) | |
| 5 | g.177994148C>A | CA362379027 | PROP1 | c.300G>T (p.Glu100Asp) | |
| 5 | g.177994148C>G | CA362379028 | PROP1 | c.300G>C (p.Glu100Asp) | |
| 5 | g.177994148C>T | CA447990772 | PROP1 | c.300G>A (p.Glu100=) | |
| 5 | g.177994149T>A | CA362379031 | PROP1 | c.299A>T (p.Glu100Val) | |
| 5 | g.177994149T>C | CA362379030 | PROP1 | c.299A>G (p.Glu100Gly) | |
| 5 | g.177994149T>G | CA362379029 | PROP1 | c.299A>C (p.Glu100Ala) | |
| 5 | g.177994150C>A | CA362379032 | PROP1 | c.298G>T (p.Glu100Ter) | |
| 5 | g.177994150C= | CA1603814534 | PROP1 | c.298G= (p.Glu100=) | |
| 5 | g.177994150C>G | CA3587565 | PROP1 | c.298G>C (p.Glu100Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177994150C>T | CA362379033 | PROP1 | c.298G>A (p.Glu100Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.177994151T>A | CA447990785 | PROP1 | c.297A>T (p.Arg99=) | |
| 5 | g.177994151T>C | CA447990782 | PROP1 | c.297A>G (p.Arg99=) | |
| 5 | g.177994151T>G | CA447990783 | PROP1 | c.297A>C (p.Arg99=) | |
| 5 | g.177994152C>A | CA362379034 | PROP1 | c.296G>T (p.Arg99Leu) | |
| 5 | g.177994152C= | CA1603814535 | PROP1 | c.296G= (p.Arg99=) | |
| 5 | g.177994152C>G | CA362379035 | PROP1 | c.296G>C (p.Arg99Pro) | |
| 5 | g.177994152C>T | CA340737 | PROP1 | c.296G>A (p.Arg99Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177994153G>A | CA340735 | PROP1 | c.295C>T (p.Arg99Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177994153G>C | CA362379036 | PROP1 | c.295C>G (p.Arg99Gly) | |
| 5 | g.177994153G= | CA1603814536 | PROP1 | c.295C= (p.Arg99=) | |
| 5 | g.177994153G>T | CA447990790 | PROP1 | c.295C>A (p.Arg99=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177994154G>A | CA447990793 | PROP1 | c.294C>T (p.Ala98=) | gnomAD v4 |
| 5 | g.177994154G>C | CA447990795 | PROP1 | c.294C>G (p.Ala98=) | |
| 5 | g.177994154G>T | CA447990796 | PROP1 | c.294C>A (p.Ala98=) | |
| 5 | g.177994155G>A | CA362379037 | PROP1 | c.293C>T (p.Ala98Val) | dbSNP |
| 5 | g.177994155G>C | CA362379038 | PROP1 | c.293C>G (p.Ala98Gly) | |
| 5 | g.177994155G= | CA1603814537 | PROP1 | c.293C= (p.Ala98=) | |
| 5 | g.177994155G>T | CA362379039 | PROP1 | c.293C>A (p.Ala98Asp) | gnomAD v4 |
| 5 | g.177994156C>A | CA362379040 | PROP1 | c.292G>T (p.Ala98Ser) | |
| 5 | g.177994156C= | CA1603814538 | PROP1 | c.292G= (p.Ala98=) | |
| 5 | g.177994156C>G | CA362379041 | PROP1 | c.292G>C (p.Ala98Pro) | |
| 5 | g.177994156C>T | CA362379042 | PROP1 | c.292G>A (p.Ala98Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177994157C>A | CA362379045 | PROP1 | c.291G>T (p.Trp97Cys) | |
| 5 | g.177994157C>G | CA362379044 | PROP1 | c.291G>C (p.Trp97Cys) | |
| 5 | g.177994157C>T | CA362379043 | PROP1 | c.291G>A (p.Trp97Ter) | |
| 5 | g.177994158C>A | CA362379047 | PROP1 | c.290G>T (p.Trp97Leu) | |
| 5 | g.177994158C>G | CA362379046 | PROP1 | c.290G>C (p.Trp97Ser) | |
| 5 | g.177994158C>T | CA362379048 | PROP1 | c.290G>A (p.Trp97Ter) | |
| 5 | g.177994158_177994160delinsCAG | CA1603814539 | PROP1 | c.288_290delinsCTG (p.Ile96=) | |
| 5 | g.177994159A>C | CA362379049 | PROP1 | c.289T>G (p.Trp97Gly) | |
| 5 | g.177994159A>G | CA362379050 | PROP1 | c.289T>C (p.Trp97Arg) | |
| 5 | g.177994159A>T | CA362379051 | PROP1 | c.289T>A (p.Trp97Arg) | |
| 5 | g.177994160_177994161del | CA16041004 | PROP1 | c.288_289del (p.Ile96MetfsTer14) | ClinVar dbSNP |
| 5 | g.177994160G>A | CA447991437 | PROP1 | c.288C>T (p.Ile96=) | |
| 5 | g.177994160G>C | CA362379052 | PROP1 | c.288C>G (p.Ile96Met) | |
| 5 | g.177994160G>T | CA447991436 | PROP1 | c.288C>A (p.Ile96=) | |
| 5 | g.177994161A>C | CA362379055 | PROP1 | c.287T>G (p.Ile96Ser) | |
| 5 | g.177994161A>G | CA362379054 | PROP1 | c.287T>C (p.Ile96Thr) | |
| 5 | g.177994161A>T | CA362379053 | PROP1 | c.287T>A (p.Ile96Asn) | |
| 5 | g.177994162T>A | CA362379056 | PROP1 | c.286A>T (p.Ile96Phe) | |
| 5 | g.177994162T>C | CA362379057 | PROP1 | c.286A>G (p.Ile96Val) | |
| 5 | g.177994162T>G | CA362379058 | PROP1 | c.286A>C (p.Ile96Leu) | gnomAD v4 |
| 5 | g.177994163G>A | CA3587566 | PROP1 | c.285C>T (p.Asp95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177994163G>C | CA362379059 | PROP1 | c.285C>G (p.Asp95Glu) | |
| 5 | g.177994163G= | CA1603814540 | PROP1 | c.285C= (p.Asp95=) | |
| 5 | g.177994163G>T | CA362379060 | PROP1 | c.285C>A (p.Asp95Glu) | |
| 5 | g.177994164T>A | CA362379063 | PROP1 | c.284A>T (p.Asp95Val) | |
| 5 | g.177994164T>C | CA362379061 | PROP1 | c.284A>G (p.Asp95Gly) | |
| 5 | g.177994164T>G | CA362379062 | PROP1 | c.284A>C (p.Asp95Ala) | |
| 5 | g.177994165C>A | CA362379064 | PROP1 | c.283G>T (p.Asp95Tyr) | |
| 5 | g.177994165C= | CA1603814541 | PROP1 | c.283G= (p.Asp95=) | |
| 5 | g.177994165C>G | CA362379065 | PROP1 | c.283G>C (p.Asp95His) | |
| 5 | g.177994165C>T | CA3587567 | PROP1 | c.283G>A (p.Asp95Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177994165_177994173delinsCGGGGTACT | CA1603814542 | PROP1 | c.275_283delinsAGTACCCCG (p.Gln92=) | |
| 5 | g.177994166G>A | CA3587568 | PROP1 | c.282C>T (p.Pro94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177994166G>C | CA447991438 | PROP1 | c.282C>G (p.Pro94=) | |
| 5 | g.177994166G= | CA1603814543 | PROP1 | c.282C= (p.Pro94=) | |
| 5 | g.177994166G>T | CA447991440 | PROP1 | c.282C>A (p.Pro94=) | |
| 5 | g.177994168_177994175del | CA1084892920 | PROP1 | c.275_282del (p.Gln92ArgfsTer16) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177994167G>A | CA362379066 | PROP1 | c.281C>T (p.Pro94Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177994167G>C | CA362379067 | PROP1 | c.281C>G (p.Pro94Arg) | |
| 5 | g.177994167G= | CA1603814544 | PROP1 | c.281C= (p.Pro94=) | |
| 5 | g.177994167G>T | CA362379068 | PROP1 | c.281C>A (p.Pro94His) | |
| 5 | g.177994168G>A | CA362379069 | PROP1 | c.280C>T (p.Pro94Ser) | |
| 5 | g.177994168G>C | CA362379070 | PROP1 | c.280C>G (p.Pro94Ala) | |
| 5 | g.177994168G>T | CA362379071 | PROP1 | c.280C>A (p.Pro94Thr) | |
| 5 | g.177994169G>A | CA447991448 | PROP1 | c.279C>T (p.Tyr93=) | ClinVar gnomAD v4 |
| 5 | g.177994169G>C | CA362379072 | PROP1 | c.279C>G (p.Tyr93Ter) | |
| 5 | g.177994169G>T | CA362379073 | PROP1 | c.279C>A (p.Tyr93Ter) | |
| 5 | g.177994170T>A | CA362379074 | PROP1 | c.278A>T (p.Tyr93Phe) | |
| 5 | g.177994170T>C | CA362379076 | PROP1 | c.278A>G (p.Tyr93Cys) | |
| 5 | g.177994170T>G | CA362379075 | PROP1 | c.278A>C (p.Tyr93Ser) | |
| 5 | g.177994171A= | CA1603814545 | PROP1 | c.277T= (p.Tyr93=) | |
| 5 | g.177994171A>C | CA362379077 | PROP1 | c.277T>G (p.Tyr93Asp) | |
| 5 | g.177994171A>G | CA362379078 | PROP1 | c.277T>C (p.Tyr93His) | dbSNP gnomAD v4 |
| 5 | g.177994171A>T | CA362379079 | PROP1 | c.277T>A (p.Tyr93Asn) | |
| 5 | g.177994172del | CA2578500663 | PROP1 | c.276del (p.Gln92HisfsTer?) | |
| 5 | g.177994172C>A | CA362379080 | PROP1 | c.276G>T (p.Gln92His) | |
| 5 | g.177994172C= | CA1603814546 | PROP1 | c.276G= (p.Gln92=) | |
| 5 | g.177994172C>G | CA3587569 | PROP1 | c.276G>C (p.Gln92His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177994172C>T | CA447991460 | PROP1 | c.276G>A (p.Gln92=) | ClinVar |
| 5 | g.177994173T>A | CA362379081 | PROP1 | c.275A>T (p.Gln92Leu) | |
| 5 | g.177994173T>C | CA3587570 | PROP1 | c.275A>G (p.Gln92Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177994173T>G | CA362379082 | PROP1 | c.275A>C (p.Gln92Pro) | |
| 5 | g.177994173T= | CA1603814547 | PROP1 | c.275A= (p.Gln92=) | |
| 5 | g.177994174G>A | CA346060 | PROP1 | c.274C>T (p.Gln92Ter) | ClinVar dbSNP |
| 5 | g.177994174G>C | CA362379083 | PROP1 | c.274C>G (p.Gln92Glu) | |
| 5 | g.177994174G= | CA1603814548 | PROP1 | c.274C= (p.Gln92=) | |
| 5 | g.177994174G>T | CA362379084 | PROP1 | c.274C>A (p.Gln92Lys) | gnomAD v4 |
| 5 | g.177994175G>A | CA447991469 | PROP1 | c.273C>T (p.Asn91=) | |
| 5 | g.177994175G>C | CA362379085 | PROP1 | c.273C>G (p.Asn91Lys) | |
| 5 | g.177994175G>T | CA362379086 | PROP1 | c.273C>A (p.Asn91Lys) | |
| 5 | g.177994176T>A | CA362379087 | PROP1 | c.272A>T (p.Asn91Ile) | |
| 5 | g.177994176T>C | CA362379089 | PROP1 | c.272A>G (p.Asn91Ser) | |
| 5 | g.177994176T>G | CA362379088 | PROP1 | c.272A>C (p.Asn91Thr) | |
| 5 | g.177994177T>A | CA362379090 | PROP1 | c.271A>T (p.Asn91Tyr) | |
| 5 | g.177994177T>C | CA362379091 | PROP1 | c.271A>G (p.Asn91Asp) | |
| 5 | g.177994177T>G | CA362379092 | PROP1 | c.271A>C (p.Asn91His) | |
| 5 | g.177994178C>A | CA362379093 | PROP1 | c.270G>T (p.Arg90Ser) | |
| 5 | g.177994178C>G | CA362379094 | PROP1 | c.270G>C (p.Arg90Ser) | |
| 5 | g.177994178C>T | CA447991480 | PROP1 | c.270G>A (p.Arg90=) | COSMIC |
| 5 | g.177994179del | CA2578500664 | PROP1 | c.270del (p.Asn91ThrfsTer?) | |
| 5 | g.177994179C>A | CA362379095 | PROP1 | c.269G>T (p.Arg90Met) | |
| 5 | g.177994179C>G | CA362379096 | PROP1 | c.269G>C (p.Arg90Thr) | |
| 5 | g.177994179C>T | CA362379097 | PROP1 | c.269G>A (p.Arg90Lys) | gnomAD v4 |
| 5 | g.177994180T>A | CA362379098 | PROP1 | c.268A>T (p.Arg90Trp) | |
| 5 | g.177994180T>C | CA362379099 | PROP1 | c.268A>G (p.Arg90Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177994180T>G | CA447991488 | PROP1 | c.268A>C (p.Arg90=) | |
| 5 | g.177994180T= | CA1603814549 | PROP1 | c.268A= (p.Arg90=) | |
| 5 | g.177994181C>A | CA447991490 | PROP1 | c.267G>T (p.Gly89=) | |
| 5 | g.177994181C>G | CA447991492 | PROP1 | c.267G>C (p.Gly89=) | |
| 5 | g.177994181C>T | CA447991493 | PROP1 | c.267G>A (p.Gly89=) | |
| 5 | g.177994182C>A | CA362379101 | PROP1 | c.266G>T (p.Gly89Val) | |
| 5 | g.177994182C>G | CA362379102 | PROP1 | c.266G>C (p.Gly89Ala) | |
| 5 | g.177994182C>T | CA362379100 | PROP1 | c.266G>A (p.Gly89Glu) | |
| 5 | g.177994183C>A | CA362379105 | PROP1 | c.265G>T (p.Gly89Trp) | |
| 5 | g.177994183C= | CA1603814550 | PROP1 | c.265G= (p.Gly89=) | |
| 5 | g.177994183C>G | CA362379103 | PROP1 | c.265G>C (p.Gly89Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177994183C>T | CA362379104 | PROP1 | c.265G>A (p.Gly89Arg) | gnomAD v4 |
| 5 | g.177994184A>C | CA362379106 | PROP1 | c.264T>G (p.Phe88Leu) | |
| 5 | g.177994184A>G | CA447991504 | PROP1 | c.264T>C (p.Phe88=) | |
| 5 | g.177994184A>T | CA362379107 | PROP1 | c.264T>A (p.Phe88Leu) | |
| 5 | g.177994185A= | CA1603814551 | PROP1 | c.263T= (p.Phe88=) | |
| 5 | g.177994185A>C | CA362379108 | PROP1 | c.263T>G (p.Phe88Cys) | |
| 5 | g.177994185A>G | CA340727 | PROP1 | c.263T>C (p.Phe88Ser) | ClinVar dbSNP |
| 5 | g.177994185A>T | CA362379109 | PROP1 | c.263T>A (p.Phe88Tyr) | |
| 5 | g.177994186A>C | CA362379110 | PROP1 | c.262T>G (p.Phe88Val) | |
| 5 | g.177994186A>G | CA362379111 | PROP1 | c.262T>C (p.Phe88Leu) | |
| 5 | g.177994186A>T | CA362379112 | PROP1 | c.262T>A (p.Phe88Ile) | |
| 5 | g.177994187G>A | CA447991515 | PROP1 | c.261C>T (p.Ala87=) | |
| 5 | g.177994187G>C | CA447991517 | PROP1 | c.261C>G (p.Ala87=) | |
| 5 | g.177994187G= | CA1603814552 | PROP1 | c.261C= (p.Ala87=) | |
| 5 | g.177994187G>T | CA132898118 | PROP1 | c.261C>A (p.Ala87=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177994188G>A | CA362379113 | PROP1 | c.260C>T (p.Ala87Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.177994188G>C | CA362379114 | PROP1 | c.260C>G (p.Ala87Gly) | dbSNP |
| 5 | g.177994188G= | CA1603814553 | PROP1 | c.260C= (p.Ala87=) | |
| 5 | g.177994188G>T | CA362379115 | PROP1 | c.260C>A (p.Ala87Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177994189C>A | CA362379116 | PROP1 | c.259G>T (p.Ala87Ser) | |
| 5 | g.177994189C>G | CA362379118 | PROP1 | c.259G>C (p.Ala87Pro) | |
| 5 | g.177994189C>T | CA362379117 | PROP1 | c.259G>A (p.Ala87Thr) | |
| 5 | g.177994190T>A | CA447991525 | PROP1 | c.258A>T (p.Ser86=) | |
| 5 | g.177994190T>C | CA447991527 | PROP1 | c.258A>G (p.Ser86=) | |
| 5 | g.177994190T>G | CA447991529 | PROP1 | c.258A>C (p.Ser86=) | |
| 5 | g.177994191G>A | CA362379119 | PROP1 | c.257C>T (p.Ser86Leu) | dbSNP gnomAD v4 |
| 5 | g.177994191G>C | CA362379120 | PROP1 | c.257C>G (p.Ser86Ter) | |
| 5 | g.177994191G= | CA1603814554 | PROP1 | c.257C= (p.Ser86=) | |
| 5 | g.177994191G>T | CA362379121 | PROP1 | c.257C>A (p.Ser86Ter) | |
| 5 | g.177994192A= | CA1603814555 | PROP1 | c.256T= (p.Ser86=) | |
| 5 | g.177994192A>C | CA362379122 | PROP1 | c.256T>G (p.Ser86Ala) | gnomAD v4 |
| 5 | g.177994192A>G | CA362379123 | PROP1 | c.256T>C (p.Ser86Pro) | |
| 5 | g.177994192A>T | CA3587571 | PROP1 | c.256T>A (p.Ser86Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.177994193C>A | CA362379124 | PROP1 | c.255G>T (p.Glu85Asp) | |
| 5 | g.177994193C>G | CA362379125 | PROP1 | c.255G>C (p.Glu85Asp) | |
| 5 | g.177994193C>T | CA447991539 | PROP1 | c.255G>A (p.Glu85=) | |
| 5 | g.177994194T>A | CA362379126 | PROP1 | c.254A>T (p.Glu85Val) | |
| 5 | g.177994194T>C | CA362379127 | PROP1 | c.254A>G (p.Glu85Gly) | |
| 5 | g.177994194T>G | CA362379128 | PROP1 | c.254A>C (p.Glu85Ala) | gnomAD v4 |
| 5 | g.177994195C>A | CA362379130 | PROP1 | c.253G>T (p.Glu85Ter) | |
| 5 | g.177994195C= | CA1603814556 | PROP1 | c.253G= (p.Glu85=) | |
| 5 | g.177994195C>G | CA362379131 | PROP1 | c.253G>C (p.Glu85Gln) | |
| 5 | g.177994195C>T | CA362379129 | PROP1 | c.253G>A (p.Glu85Lys) | dbSNP gnomAD v4 |
| 5 | g.177994196C>A | CA447991552 | PROP1 | c.252G>T (p.Leu84=) | |
| 5 | g.177994196C>G | CA447991550 | PROP1 | c.252G>C (p.Leu84=) | |
| 5 | g.177994196C>T | CA447991548 | PROP1 | c.252G>A (p.Leu84=) | |
| 5 | g.177994197A>C | CA362379132 | PROP1 | c.251T>G (p.Leu84Arg) | |
| 5 | g.177994197A>G | CA362379133 | PROP1 | c.251T>C (p.Leu84Pro) | |
| 5 | g.177994197A>T | CA362379134 | PROP1 | c.251T>A (p.Leu84Gln) | |
| 5 | g.177994198G>A | CA447991557 | PROP1 | c.250C>T (p.Leu84=) | |
| 5 | g.177994198G>C | CA362379135 | PROP1 | c.250C>G (p.Leu84Val) | |
| 5 | g.177994198G>T | CA362379136 | PROP1 | c.250C>A (p.Leu84Met) | |
| 5 | g.177994199C>A | CA362379137 | PROP1 | c.249G>T (p.Gln83His) | |
| 5 | g.177994199C= | CA1603814557 | PROP1 | c.249G= (p.Gln83=) | |
| 5 | g.177994199C>G | CA362379138 | PROP1 | c.249G>C (p.Gln83His) | |
| 5 | g.177994199C>T | CA3587572 | PROP1 | c.249G>A (p.Gln83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177994200T>A | CA362379139 | PROP1 | c.248A>T (p.Gln83Leu) | |
| 5 | g.177994200T>C | CA362379140 | PROP1 | c.248A>G (p.Gln83Arg) | |
| 5 | g.177994200T>G | CA362379141 | PROP1 | c.248A>C (p.Gln83Pro) | |
| 5 | g.177994201G>A | CA362379142 | PROP1 | c.247C>T (p.Gln83Ter) | dbSNP |
| 5 | g.177994201G>C | CA362379143 | PROP1 | c.247C>G (p.Gln83Glu) | dbSNP gnomAD v4 |
| 5 | g.177994201G= | CA1603814558 | PROP1 | c.247C= (p.Gln83=) | |
| 5 | g.177994201G>T | CA362379144 | PROP1 | c.247C>A (p.Gln83Lys) | gnomAD v4 |
| 5 | g.177994202T>A | CA362379146 | PROP1 | c.246A>T (p.Glu82Asp) | |
| 5 | g.177994202T>C | CA447991571 | PROP1 | c.246A>G (p.Glu82=) | |
| 5 | g.177994202T>G | CA362379145 | PROP1 | c.246A>C (p.Glu82Asp) | |
| 5 | g.177994203T>A | CA362379147 | PROP1 | c.245A>T (p.Glu82Val) | |
| 5 | g.177994203T>C | CA362379148 | PROP1 | c.245A>G (p.Glu82Gly) | |
| 5 | g.177994203T>G | CA362379149 | PROP1 | c.245A>C (p.Glu82Ala) | |
| 5 | g.177994204C>A | CA132898136 | PROP1 | c.244G>T (p.Glu82Ter) | dbSNP |
| 5 | g.177994204C= | CA1603814559 | PROP1 | c.244G= (p.Glu82=) | |
| 5 | g.177994204C>G | CA362379150 | PROP1 | c.244G>C (p.Glu82Gln) | |
| 5 | g.177994204C>T | CA362379151 | PROP1 | c.244G>A (p.Glu82Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177994205C>A | CA362379153 | PROP1 | c.243G>T (p.Leu81Phe) | |
| 5 | g.177994205C>G | CA362379152 | PROP1 | c.243G>C (p.Leu81Phe) | |
| 5 | g.177994205C>T | CA447991583 | PROP1 | c.243G>A (p.Leu81=) | gnomAD v4 |
| 5 | g.177994206A>C | CA362379154 | PROP1 | c.242T>G (p.Leu81Trp) | |
| 5 | g.177994206A>G | CA362379155 | PROP1 | c.242T>C (p.Leu81Ser) | |
| 5 | g.177994206A>T | CA362379156 | PROP1 | c.242T>A (p.Leu81Ter) | |
| 5 | g.177994207A>C | CA362379157 | PROP1 | c.241T>G (p.Leu81Val) | |
| 5 | g.177994207A>G | CA447991589 | PROP1 | c.241T>C (p.Leu81=) | |
| 5 | g.177994207A>T | CA362379158 | PROP1 | c.241T>A (p.Leu81Met) | |
| 5 | g.177994208C>A | CA362379159 | PROP1 | c.240G>T (p.Gln80His) | |
| 5 | g.177994208C>G | CA362379160 | PROP1 | c.240G>C (p.Gln80His) | |
| 5 | g.177994208C>T | CA447991595 | PROP1 | c.240G>A (p.Gln80=) | ClinVar dbSNP |
| 5 | g.177994209T>A | CA362379162 | PROP1 | c.239A>T (p.Gln80Leu) | |
| 5 | g.177994209T>C | CA362379163 | PROP1 | c.239A>G (p.Gln80Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177994209T>G | CA362379161 | PROP1 | c.239A>C (p.Gln80Pro) | |
| 5 | g.177994209T= | CA1603814560 | PROP1 | c.239A= (p.Gln80=) | |
| 5 | g.177994210G>A | CA362379164 | PROP1 | c.238C>T (p.Gln80Ter) | |
| 5 | g.177994210G>C | CA362379166 | PROP1 | c.238C>G (p.Gln80Glu) | |
| 5 | g.177994210G>T | CA362379165 | PROP1 | c.238C>A (p.Gln80Lys) | COSMIC |
| 5 | g.177994211C>A | CA447991603 | PROP1 | c.237G>T (p.Val79=) | |
| 5 | g.177994211C>G | CA447991605 | PROP1 | c.237G>C (p.Val79=) | |
| 5 | g.177994211C>T | CA447991607 | PROP1 | c.237G>A (p.Val79=) | |
| 5 | g.177994212A= | CA1603814561 | PROP1 | c.236T= (p.Val79=) | |
| 5 | g.177994212A>C | CA362379167 | PROP1 | c.236T>G (p.Val79Gly) | |
| 5 | g.177994212A>G | CA132898137 | PROP1 | c.236T>C (p.Val79Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177994212A>T | CA362379168 | PROP1 | c.236T>A (p.Val79Glu) | |
| 5 | g.177994213C>A | CA362379169 | PROP1 | c.235G>T (p.Val79Leu) | |
| 5 | g.177994213C= | CA1603814562 | PROP1 | c.235G= (p.Val79=) | |
| 5 | g.177994213C>G | CA3587573 | PROP1 | c.235G>C (p.Val79Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177994213C>T | CA362379170 | PROP1 | c.235G>A (p.Val79Met) | |
| 5 | g.177994214T>A | CA447991616 | PROP1 | c.234A>T (p.Pro78=) | |
| 5 | g.177994214T>C | CA3587574 | PROP1 | c.234A>G (p.Pro78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177994214T>G | CA447991618 | PROP1 | c.234A>C (p.Pro78=) | |
| 5 | g.177994214T= | CA1603814563 | PROP1 | c.234A= (p.Pro78=) | |
| 5 | g.177994215G>A | CA362379171 | PROP1 | c.233C>T (p.Pro78Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177994215G>C | CA362379172 | PROP1 | c.233C>G (p.Pro78Arg) | |
| 5 | g.177994215G= | CA1603814564 | PROP1 | c.233C= (p.Pro78=) | |
| 5 | g.177994215G>T | CA362379173 | PROP1 | c.233C>A (p.Pro78Gln) | |
| 5 | g.177994216G>A | CA132898143 | PROP1 | c.232C>T (p.Pro78Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177994216G>C | CA362379174 | PROP1 | c.232C>G (p.Pro78Ala) | |
| 5 | g.177994216G= | CA1603814565 | PROP1 | c.232C= (p.Pro78=) | |
| 5 | g.177994216G>T | CA362379175 | PROP1 | c.232C>A (p.Pro78Thr) | |
| 5 | g.177994217G>A | CA447991627 | PROP1 | c.231C>T (p.Ser77=) | COSMIC |
| 5 | g.177994217G>C | CA362379176 | PROP1 | c.231C>G (p.Ser77Arg) | |
| 5 | g.177994217G>T | CA362379177 | PROP1 | c.231C>A (p.Ser77Arg) | |
| 5 | g.177994218C>A | CA362379178 | PROP1 | c.230G>T (p.Ser77Ile) | |
| 5 | g.177994218C= | CA1603814566 | PROP1 | c.230G= (p.Ser77=) | |
| 5 | g.177994218C>G | CA362379179 | PROP1 | c.230G>C (p.Ser77Thr) | |
| 5 | g.177994218C>T | CA132898148 | PROP1 | c.230G>A (p.Ser77Asn) | dbSNP |
| 5 | g.177994219T>A | CA362379180 | PROP1 | c.229A>T (p.Ser77Cys) | |
| 5 | g.177994219T>C | CA362379182 | PROP1 | c.229A>G (p.Ser77Gly) | dbSNP |
| 5 | g.177994219T>G | CA362379181 | PROP1 | c.229A>C (p.Ser77Arg) | |
| 5 | g.177994219_177994222dup | CA2676775446 | PROP1 | c.226_229dup (p.Ser77IlefsTer?) | gnomAD v4 |
| 5 | g.177994220G>A | CA447991637 | PROP1 | c.228C>T (p.Phe76=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177994220G>C | CA362379183 | PROP1 | c.228C>G (p.Phe76Leu) | |
| 5 | g.177994220G>T | CA362379184 | PROP1 | c.228C>A (p.Phe76Leu) | |
| 5 | g.177994221A= | CA1603814567 | PROP1 | c.227T= (p.Phe76=) | |
| 5 | g.177994221A>C | CA362379185 | PROP1 | c.227T>G (p.Phe76Cys) | |
| 5 | g.177994221A>G | CA362379186 | PROP1 | c.227T>C (p.Phe76Ser) | dbSNP gnomAD v4 |
| 5 | g.177994221A>T | CA362379187 | PROP1 | c.227T>A (p.Phe76Tyr) | |
| 5 | g.177994222A= | CA1603814568 | PROP1 | c.226T= (p.Phe76=) | |
| 5 | g.177994222A>C | CA362379188 | PROP1 | c.226T>G (p.Phe76Val) | |
| 5 | g.177994222A>G | CA362379189 | PROP1 | c.226T>C (p.Phe76Leu) | |
| 5 | g.177994222A>T | CA3587575 | PROP1 | c.226T>A (p.Phe76Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177994223G>A | CA3587576 | PROP1 | c.225C>T (p.Thr75=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177994223G>C | CA447991649 | PROP1 | c.225C>G (p.Thr75=) | |
| 5 | g.177994223G= | CA1603814569 | PROP1 | c.225C= (p.Thr75=) | |
| 5 | g.177994223G>T | CA447991651 | PROP1 | c.225C>A (p.Thr75=) | |
| 5 | g.177994228_177994235del | CA2739272822 | PROP1 | c.218_225del (p.Arg73LeufsTer?) | ClinVar |
| 5 | g.177994224G>A | CA362379192 | PROP1 | c.224C>T (p.Thr75Ile) | ClinVar gnomAD v4 |
| 5 | g.177994224G>C | CA362379191 | PROP1 | c.224C>G (p.Thr75Ser) | |
| 5 | g.177994224G>T | CA362379190 | PROP1 | c.224C>A (p.Thr75Asn) | |
| 5 | g.177994225T>A | CA362379193 | PROP1 | c.223A>T (p.Thr75Ser) | |
| 5 | g.177994225T>C | CA362379194 | PROP1 | c.223A>G (p.Thr75Ala) | |
| 5 | g.177994225T>G | CA362379195 | PROP1 | c.223A>C (p.Thr75Pro) | |
| 5 | g.177994226G>A | CA447991661 | PROP1 | c.222C>T (p.Thr74=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177994226G>C | CA447991662 | PROP1 | c.222C>G (p.Thr74=) | |
| 5 | g.177994226G= | CA1603814570 | PROP1 | c.222C= (p.Thr74=) | |
| 5 | g.177994226G>T | CA447991665 | PROP1 | c.222C>A (p.Thr74=) | |
| 5 | g.177994227G>A | CA3587577 | PROP1 | c.221C>T (p.Thr74Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177994227G>C | CA362379196 | PROP1 | c.221C>G (p.Thr74Ser) | |
| 5 | g.177994227G= | CA1603814571 | PROP1 | c.221C= (p.Thr74=) | |
| 5 | g.177994227G>T | CA362379197 | PROP1 | c.221C>A (p.Thr74Asn) | dbSNP |
| 5 | g.177994228T>A | CA362379198 | PROP1 | c.220A>T (p.Thr74Ser) | ClinVar dbSNP |
| 5 | g.177994228T>C | CA362379199 | PROP1 | c.220A>G (p.Thr74Ala) | |
| 5 | g.177994228T>G | CA362379200 | PROP1 | c.220A>C (p.Thr74Pro) | |
| 5 | g.177994228T= | CA1603814572 | PROP1 | c.220A= (p.Thr74=) | |
| 5 | g.177994229G>A | CA447991673 | PROP1 | c.219C>T (p.Arg73=) | gnomAD v4 |
| 5 | g.177994229G>C | CA447991675 | PROP1 | c.219C>G (p.Arg73=) | dbSNP |
| 5 | g.177994229G>T | CA447991677 | PROP1 | c.219C>A (p.Arg73=) | |
| 5 | g.177994230C>A | CA362379201 | PROP1 | c.218G>T (p.Arg73Leu) | |
| 5 | g.177994230C= | CA1603814573 | PROP1 | c.218G= (p.Arg73=) | |
| 5 | g.177994230C>G | CA362379202 | PROP1 | c.218G>C (p.Arg73Pro) | |
| 5 | g.177994230C>T | CA340731 | PROP1 | c.218G>A (p.Arg73His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177994231G>A | CA340733 | PROP1 | c.217C>T (p.Arg73Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177994231G>C | CA362379203 | PROP1 | c.217C>G (p.Arg73Gly) | |
| 5 | g.177994231G= | CA1603814574 | PROP1 | c.217C= (p.Arg73=) | |
| 5 | g.177994231G>T | CA362379204 | PROP1 | c.217C>A (p.Arg73Ser) |