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 |
|---|---|---|---|---|---|
| 3 | g.87259955A>C | CA353698076 | POU1F1 | c.893T>G (p.Val298Gly) c.815T>G (p.Val272Gly) c.589T>G (n.589T>G) c.590T>G (p.Val197Gly) | |
| 3 | g.87259955A>G | CA353698077 | POU1F1 | c.893T>C (p.Val298Ala) c.815T>C (p.Val272Ala) c.589T>C (n.589T>C) c.590T>C (p.Val197Ala) | |
| 3 | g.87259955A>T | CA353698078 | POU1F1 | c.893T>A (p.Val298Glu) c.815T>A (p.Val272Glu) c.589T>A (n.589T>A) c.590T>A (p.Val197Glu) | |
| 3 | g.87259956C>A | CA353698081 | POU1F1 | c.892G>T (p.Val298Leu) c.814G>T (p.Val272Leu) c.588G>T (n.588G>T) c.589G>T (p.Val197Leu) | |
| 3 | g.87259956C>G | CA353698080 | POU1F1 | c.892G>C (p.Val298Leu) c.814G>C (p.Val272Leu) c.588G>C (n.588G>C) c.589G>C (p.Val197Leu) | |
| 3 | g.87259956C>T | CA353698079 | POU1F1 | c.892G>A (p.Val298Met) c.814G>A (p.Val272Met) c.588G>A (n.588G>A) c.589G>A (p.Val197Met) | COSMIC COSMIC |
| 3 | g.87259958del | CA2586972584 | POU1F1 | c.892del (p.Val298Ter) c.814del (p.Val272Ter) c.588del (n.588del) c.589del (p.Val197Ter) | |
| 3 | g.87259957C>A | CA434579347 | POU1F1 | c.891G>T (p.Arg297=) c.813G>T (p.Arg271=) c.587G>T (n.587G>T) c.588G>T (p.Arg196=) | |
| 3 | g.87259957C>G | CA434579348 | POU1F1 | c.891G>C (p.Arg297=) c.813G>C (p.Arg271=) c.587G>C (n.587G>C) c.588G>C (p.Arg196=) | |
| 3 | g.87259957C>T | CA434579350 | POU1F1 | c.891G>A (p.Arg297=) c.813G>A (p.Arg271=) c.587G>A (n.587G>A) c.588G>A (p.Arg196=) | |
| 3 | g.87259958C>A | CA353698082 | POU1F1 | c.890G>T (p.Arg297Leu) c.812G>T (p.Arg271Leu) c.586G>T (n.586G>T) c.587G>T (p.Arg196Leu) | |
| 3 | g.87259958C= | CA1381563993 | POU1F1 | c.890G= (p.Arg297=) c.812G= (p.Arg271=) c.586G= (n.586G=) c.587G= (p.Arg196=) | |
| 3 | g.87259958C>G | CA353698083 | POU1F1 | c.890G>C (p.Arg297Pro) c.812G>C (p.Arg271Pro) c.586G>C (n.586G>C) c.587G>C (p.Arg196Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.87259958C>T | CA353698084 | POU1F1 | c.890G>A (p.Arg297Gln) c.812G>A (p.Arg271Gln) c.586G>A (n.586G>A) c.587G>A (p.Arg196Gln) | gnomAD v4 |
| 3 | g.87259959G>A | CA250603 | POU1F1 | c.889C>T (p.Arg297Trp) c.811C>T (p.Arg271Trp) c.585C>T (n.585C>T) c.586C>T (p.Arg196Trp) | ClinVar dbSNP COSMIC |
| 3 | g.87259959G>C | CA353698085 | POU1F1 | c.889C>G (p.Arg297Gly) c.811C>G (p.Arg271Gly) c.585C>G (n.585C>G) c.586C>G (p.Arg196Gly) | |
| 3 | g.87259959G= | CA1381564000 | POU1F1 | c.889C= (p.Arg297=) c.811C= (p.Arg271=) c.585C= (n.585C=) c.586C= (p.Arg196=) | |
| 3 | g.87259959G>T | CA434579359 | POU1F1 | c.889C>A (p.Arg297=) c.811C>A (p.Arg271=) c.585C>A (n.585C>A) c.586C>A (p.Arg196=) | gnomAD v4 |
| 3 | g.87259960T>A | CA353698086 | POU1F1 | c.888A>T (p.Lys296Asn) c.810A>T (p.Lys270Asn) c.584A>T (n.584A>T) c.585A>T (p.Lys195Asn) | |
| 3 | g.87259960T>C | CA434579363 | POU1F1 | c.888A>G (p.Lys296=) c.810A>G (p.Lys270=) c.584A>G (n.584A>G) c.585A>G (p.Lys195=) | |
| 3 | g.87259960T>G | CA353698087 | POU1F1 | c.888A>C (p.Lys296Asn) c.810A>C (p.Lys270Asn) c.584A>C (n.584A>C) c.585A>C (p.Lys195Asn) | COSMIC COSMIC |
| 3 | g.87259961T>A | CA353698088 | POU1F1 | c.887A>T (p.Lys296Ile) c.809A>T (p.Lys270Ile) c.583A>T (n.583A>T) c.584A>T (p.Lys195Ile) | |
| 3 | g.87259961T>C | CA353698089 | POU1F1 | c.887A>G (p.Lys296Arg) c.809A>G (p.Lys270Arg) c.583A>G (n.583A>G) c.584A>G (p.Lys195Arg) | |
| 3 | g.87259961T>G | CA353698090 | POU1F1 | c.887A>C (p.Lys296Thr) c.809A>C (p.Lys270Thr) c.583A>C (n.583A>C) c.584A>C (p.Lys195Thr) | |
| 3 | g.87259962T>A | CA353698091 | POU1F1 | c.886A>T (p.Lys296Ter) c.808A>T (p.Lys270Ter) c.582A>T (n.582A>T) c.583A>T (p.Lys195Ter) | |
| 3 | g.87259962T>C | CA353698092 | POU1F1 | c.886A>G (p.Lys296Glu) c.808A>G (p.Lys270Glu) c.582A>G (n.582A>G) c.583A>G (p.Lys195Glu) | |
| 3 | g.87259962T>G | CA353698093 | POU1F1 | c.886A>C (p.Lys296Gln) c.808A>C (p.Lys270Gln) c.582A>C (n.582A>C) c.583A>C (p.Lys195Gln) | |
| 3 | g.87259963T>A | CA353698095 | POU1F1 | c.885A>T (p.Glu295Asp) c.807A>T (p.Glu269Asp) c.581A>T (n.581A>T) c.582A>T (p.Glu194Asp) | |
| 3 | g.87259963T>C | CA434579377 | POU1F1 | c.885A>G (p.Glu295=) c.807A>G (p.Glu269=) c.581A>G (n.581A>G) c.582A>G (p.Glu194=) | |
| 3 | g.87259963T>G | CA353698094 | POU1F1 | c.885A>C (p.Glu295Asp) c.807A>C (p.Glu269Asp) c.581A>C (n.581A>C) c.582A>C (p.Glu194Asp) | |
| 3 | g.87259964T>A | CA353698096 | POU1F1 | c.884A>T (p.Glu295Val) c.806A>T (p.Glu269Val) c.580A>T (n.580A>T) c.581A>T (p.Glu194Val) | |
| 3 | g.87259964T>C | CA353698097 | POU1F1 | c.884A>G (p.Glu295Gly) c.806A>G (p.Glu269Gly) c.580A>G (n.580A>G) c.581A>G (p.Glu194Gly) | gnomAD v4 |
| 3 | g.87259964T>G | CA353698098 | POU1F1 | c.884A>C (p.Glu295Ala) c.806A>C (p.Glu269Ala) c.580A>C (n.580A>C) c.581A>C (p.Glu194Ala) | |
| 3 | g.87259965C>A | CA353698099 | POU1F1 | c.883G>T (p.Glu295Ter) c.805G>T (p.Glu269Ter) c.579G>T (n.579G>T) c.580G>T (p.Glu194Ter) | |
| 3 | g.87259965C>G | CA353698100 | POU1F1 | c.883G>C (p.Glu295Gln) c.805G>C (p.Glu269Gln) c.579G>C (n.579G>C) c.580G>C (p.Glu194Gln) | |
| 3 | g.87259965C>T | CA353698101 | POU1F1 | c.883G>A (p.Glu295Lys) c.805G>A (p.Glu269Lys) c.579G>A (n.579G>A) c.580G>A (p.Glu194Lys) | |
| 3 | g.87259966T>A | CA2501072 | POU1F1 | c.882A>T (p.Arg294Ser) c.804A>T (p.Arg268Ser) c.578A>T (n.578A>T) c.579A>T (p.Arg193Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87259966T>C | CA434579393 | POU1F1 | c.882A>G (p.Arg294=) c.804A>G (p.Arg268=) c.578A>G (n.578A>G) c.579A>G (p.Arg193=) | gnomAD v4 |
| 3 | g.87259966T>G | CA353698102 | POU1F1 | c.882A>C (p.Arg294Ser) c.804A>C (p.Arg268Ser) c.578A>C (n.578A>C) c.579A>C (p.Arg193Ser) | |
| 3 | g.87259966T= | CA1381564007 | POU1F1 | c.882A= (p.Arg294=) c.804A= (p.Arg268=) c.578A= (n.578A=) c.579A= (p.Arg193=) | |
| 3 | g.87259967C>A | CA353698103 | POU1F1 | c.881G>T (p.Arg294Ile) c.803G>T (p.Arg268Ile) c.577G>T (n.577G>T) c.578G>T (p.Arg193Ile) | |
| 3 | g.87259967C>G | CA353698104 | POU1F1 | c.881G>C (p.Arg294Thr) c.803G>C (p.Arg268Thr) c.577G>C (n.577G>C) c.578G>C (p.Arg193Thr) | |
| 3 | g.87259967C>T | CA353698105 | POU1F1 | c.881G>A (p.Arg294Lys) c.803G>A (p.Arg268Lys) c.577G>A (n.577G>A) c.578G>A (p.Arg193Lys) | |
| 3 | g.87259968T>A | CA353698106 | POU1F1 | c.880A>T (p.Arg294Ter) c.802A>T (p.Arg268Ter) c.576A>T (n.576A>T) c.577A>T (p.Arg193Ter) | |
| 3 | g.87259968T>C | CA353698107 | POU1F1 | c.880A>G (p.Arg294Gly) c.802A>G (p.Arg268Gly) c.576A>G (n.576A>G) c.577A>G (p.Arg193Gly) | |
| 3 | g.87259968T>G | CA434579410 | POU1F1 | c.880A>C (p.Arg294=) c.802A>C (p.Arg268=) c.576A>C (n.576A>C) c.577A>C (p.Arg193=) | |
| 3 | g.87259969C>A | CA353698109 | POU1F1 | c.879G>T (p.Gln293His) c.801G>T (p.Gln267His) c.575G>T (n.575G>T) c.576G>T (p.Gln192His) | |
| 3 | g.87259969C= | CA1381564012 | POU1F1 | c.879G= (p.Gln293=) c.801G= (p.Gln267=) c.575G= (n.575G=) c.576G= (p.Gln192=) | |
| 3 | g.87259969C>G | CA353698108 | POU1F1 | c.879G>C (p.Gln293His) c.801G>C (p.Gln267His) c.575G>C (n.575G>C) c.576G>C (p.Gln192His) | |
| 3 | g.87259969C>T | CA2501073 | POU1F1 | c.879G>A (p.Gln293=) c.801G>A (p.Gln267=) c.575G>A (n.575G>A) c.576G>A (p.Gln192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87259970T>A | CA353698110 | POU1F1 | c.878A>T (p.Gln293Leu) c.800A>T (p.Gln267Leu) c.574A>T (n.574A>T) c.575A>T (p.Gln192Leu) | |
| 3 | g.87259970T>C | CA353698111 | POU1F1 | c.878A>G (p.Gln293Arg) c.800A>G (p.Gln267Arg) c.574A>G (n.574A>G) c.575A>G (p.Gln192Arg) | gnomAD v4 |
| 3 | g.87259970T>G | CA353698112 | POU1F1 | c.878A>C (p.Gln293Pro) c.800A>C (p.Gln267Pro) c.574A>C (n.574A>C) c.575A>C (p.Gln192Pro) | |
| 3 | g.87259971G>A | CA353698113 | POU1F1 | c.877C>T (p.Gln293Ter) c.799C>T (p.Gln267Ter) c.573C>T (n.573C>T) c.574C>T (p.Gln192Ter) | |
| 3 | g.87259971G>C | CA353698114 | POU1F1 | c.877C>G (p.Gln293Glu) c.799C>G (p.Gln267Glu) c.573C>G (n.573C>G) c.574C>G (p.Gln192Glu) | |
| 3 | g.87259971G>T | CA353698115 | POU1F1 | c.877C>A (p.Gln293Lys) c.799C>A (p.Gln267Lys) c.573C>A (n.573C>A) c.574C>A (p.Gln192Lys) | |
| 3 | g.87259972C>A | CA353698116 | POU1F1 | c.876G>T (p.Arg292Ser) c.798G>T (p.Arg266Ser) c.572G>T (n.572G>T) c.573G>T (p.Arg191Ser) | |
| 3 | g.87259972C>G | CA353698117 | POU1F1 | c.876G>C (p.Arg292Ser) c.798G>C (p.Arg266Ser) c.572G>C (n.572G>C) c.573G>C (p.Arg191Ser) | |
| 3 | g.87259972C>T | CA434579427 | POU1F1 | c.876G>A (p.Arg292=) c.798G>A (p.Arg266=) c.572G>A (n.572G>A) c.573G>A (p.Arg191=) | |
| 3 | g.87259973C>A | CA353698118 | POU1F1 | c.875G>T (p.Arg292Met) c.797G>T (p.Arg266Met) c.571G>T (n.571G>T) c.572G>T (p.Arg191Met) | |
| 3 | g.87259973C= | CA1381564016 | POU1F1 | c.875G= (p.Arg292=) c.797G= (p.Arg266=) c.571G= (n.571G=) c.572G= (p.Arg191=) | |
| 3 | g.87259973C>G | CA353698119 | POU1F1 | c.875G>C (p.Arg292Thr) c.797G>C (p.Arg266Thr) c.571G>C (n.571G>C) c.572G>C (p.Arg191Thr) | ClinVar dbSNP |
| 3 | g.87259973C>T | CA353698120 | POU1F1 | c.875G>A (p.Arg292Lys) c.797G>A (p.Arg266Lys) c.571G>A (n.571G>A) c.572G>A (p.Arg191Lys) | |
| 3 | g.87259974T>A | CA353698121 | POU1F1 | c.874A>T (p.Arg292Trp) c.796A>T (p.Arg266Trp) c.570A>T (n.570A>T) c.571A>T (p.Arg191Trp) | |
| 3 | g.87259974T>C | CA353698122 | POU1F1 | c.874A>G (p.Arg292Gly) c.796A>G (p.Arg266Gly) c.570A>G (n.570A>G) c.571A>G (p.Arg191Gly) | gnomAD v4 |
| 3 | g.87259974T>G | CA434579433 | POU1F1 | c.874A>C (p.Arg292=) c.796A>C (p.Arg266=) c.570A>C (n.570A>C) c.571A>C (p.Arg191=) | |
| 3 | g.87259975C>A | CA434579437 | POU1F1 | c.873G>T (p.Arg291=) c.795G>T (p.Arg265=) c.569G>T (n.569G>T) c.570G>T (p.Arg190=) | |
| 3 | g.87259975C= | CA1381564018 | POU1F1 | c.873G= (p.Arg291=) c.795G= (p.Arg265=) c.569G= (n.569G=) c.570G= (p.Arg190=) | |
| 3 | g.87259975C>G | CA434579438 | POU1F1 | c.873G>C (p.Arg291=) c.795G>C (p.Arg265=) c.569G>C (n.569G>C) c.570G>C (p.Arg190=) | dbSNP |
| 3 | g.87259975C>T | CA434579440 | POU1F1 | c.873G>A (p.Arg291=) c.795G>A (p.Arg265=) c.569G>A (n.569G>A) c.570G>A (p.Arg190=) | gnomAD v4 |
| 3 | g.87259976del | CA2757123229 | POU1F1 | c.873del (p.Arg292GlyfsTer7) c.795del (p.Arg266GlyfsTer7) c.569del (n.569del) c.570del (p.Arg191GlyfsTer7) | |
| 3 | g.87259976C>A | CA353698124 | POU1F1 | c.872G>T (p.Arg291Leu) c.794G>T (p.Arg265Leu) c.568G>T (n.568G>T) c.569G>T (p.Arg190Leu) | |
| 3 | g.87259976C= | CA1381564020 | POU1F1 | c.872G= (p.Arg291=) c.794G= (p.Arg265=) c.568G= (n.568G=) c.569G= (p.Arg190=) | |
| 3 | g.87259976C>G | CA353698123 | POU1F1 | c.872G>C (p.Arg291Pro) c.794G>C (p.Arg265Pro) c.568G>C (n.568G>C) c.569G>C (p.Arg190Pro) | |
| 3 | g.87259976C>T | CA79036445 | POU1F1 | c.872G>A (p.Arg291Gln) c.794G>A (p.Arg265Gln) c.568G>A (n.568G>A) c.569G>A (p.Arg190Gln) | dbSNP gnomAD v4 |
| 3 | g.87259977G>A | CA2501074 | POU1F1 | c.871C>T (p.Arg291Trp) c.793C>T (p.Arg265Trp) c.567C>T (n.567C>T) c.568C>T (p.Arg190Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87259977G>C | CA353698125 | POU1F1 | c.871C>G (p.Arg291Gly) c.793C>G (p.Arg265Gly) c.567C>G (n.567C>G) c.568C>G (p.Arg190Gly) | |
| 3 | g.87259977G= | CA1381564021 | POU1F1 | c.871C= (p.Arg291=) c.793C= (p.Arg265=) c.567C= (n.567C=) c.568C= (p.Arg190=) | |
| 3 | g.87259977G>T | CA434579443 | POU1F1 | c.871C>A (p.Arg291=) c.793C>A (p.Arg265=) c.567C>A (n.567C>A) c.568C>A (p.Arg190=) | dbSNP COSMIC COSMIC |
| 3 | g.87259978G>A | CA2501075 | POU1F1 | c.870C>T (p.Asn290=) c.792C>T (p.Asn264=) c.566C>T (n.566C>T) c.567C>T (p.Asn189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87259978G>C | CA353698126 | POU1F1 | c.870C>G (p.Asn290Lys) c.792C>G (p.Asn264Lys) c.566C>G (n.566C>G) c.567C>G (p.Asn189Lys) | |
| 3 | g.87259978G= | CA1381564022 | POU1F1 | c.870C= (p.Asn290=) c.792C= (p.Asn264=) c.566C= (n.566C=) c.567C= (p.Asn189=) | |
| 3 | g.87259978G>T | CA353698127 | POU1F1 | c.870C>A (p.Asn290Lys) c.792C>A (p.Asn264Lys) c.566C>A (n.566C>A) c.567C>A (p.Asn189Lys) | |
| 3 | g.87259979T>A | CA353698128 | POU1F1 | c.869A>T (p.Asn290Ile) c.791A>T (p.Asn264Ile) c.565A>T (n.565A>T) c.566A>T (p.Asn189Ile) | |
| 3 | g.87259979T>C | CA353698129 | POU1F1 | c.869A>G (p.Asn290Ser) c.791A>G (p.Asn264Ser) c.565A>G (n.565A>G) c.566A>G (p.Asn189Ser) | |
| 3 | g.87259979T>G | CA353698130 | POU1F1 | c.869A>C (p.Asn290Thr) c.791A>C (p.Asn264Thr) c.565A>C (n.565A>C) c.566A>C (p.Asn189Thr) | |
| 3 | g.87259980T>A | CA353698131 | POU1F1 | c.868A>T (p.Asn290Tyr) c.790A>T (p.Asn264Tyr) c.564A>T (n.564A>T) c.565A>T (p.Asn189Tyr) | |
| 3 | g.87259980T>C | CA353698133 | POU1F1 | c.868A>G (p.Asn290Asp) c.790A>G (p.Asn264Asp) c.564A>G (n.564A>G) c.565A>G (p.Asn189Asp) | |
| 3 | g.87259980T>G | CA353698132 | POU1F1 | c.868A>C (p.Asn290His) c.790A>C (p.Asn264His) c.564A>C (n.564A>C) c.565A>C (p.Asn189His) | |
| 3 | g.87259981G>A | CA434579455 | POU1F1 | c.867C>T (p.Cys289=) c.789C>T (p.Cys263=) c.563C>T (n.563C>T) c.564C>T (p.Cys188=) | gnomAD v4 |
| 3 | g.87259981G>C | CA353698134 | POU1F1 | c.867C>G (p.Cys289Trp) c.789C>G (p.Cys263Trp) c.563C>G (n.563C>G) c.564C>G (p.Cys188Trp) | |
| 3 | g.87259981G>T | CA353698135 | POU1F1 | c.867C>A (p.Cys289Ter) c.789C>A (p.Cys263Ter) c.563C>A (n.563C>A) c.564C>A (p.Cys188Ter) | |
| 3 | g.87259982C>A | CA353698136 | POU1F1 | c.866G>T (p.Cys289Phe) c.788G>T (p.Cys263Phe) c.562G>T (n.562G>T) c.563G>T (p.Cys188Phe) | |
| 3 | g.87259982C>G | CA353698137 | POU1F1 | c.866G>C (p.Cys289Ser) c.788G>C (p.Cys263Ser) c.562G>C (n.562G>C) c.563G>C (p.Cys188Ser) | |
| 3 | g.87259982C>T | CA353698138 | POU1F1 | c.866G>A (p.Cys289Tyr) c.788G>A (p.Cys263Tyr) c.562G>A (n.562G>A) c.563G>A (p.Cys188Tyr) | |
| 3 | g.87259983A>C | CA353698139 | POU1F1 | c.865T>G (p.Cys289Gly) c.787T>G (p.Cys263Gly) c.561T>G (n.561T>G) c.562T>G (p.Cys188Gly) | |
| 3 | g.87259983A>G | CA353698141 | POU1F1 | c.865T>C (p.Cys289Arg) c.787T>C (p.Cys263Arg) c.561T>C (n.561T>C) c.562T>C (p.Cys188Arg) | |
| 3 | g.87259983A>T | CA353698140 | POU1F1 | c.865T>A (p.Cys289Ser) c.787T>A (p.Cys263Ser) c.561T>A (n.561T>A) c.562T>A (p.Cys188Ser) | |
| 3 | g.87259986del | CA2739279977 | POU1F1 | c.865del (p.Cys289AlafsTer10) c.787del (p.Cys263AlafsTer10) c.561del (n.561del) c.562del (p.Cys188AlafsTer10) | ClinVar |
| 3 | g.87259984A= | CA1381564024 | POU1F1 | c.864T= (p.Phe288=) c.786T= (p.Phe262=) c.560T= (n.560T=) c.561T= (p.Phe187=) | |
| 3 | g.87259984A>C | CA353698142 | POU1F1 | c.864T>G (p.Phe288Leu) c.786T>G (p.Phe262Leu) c.560T>G (n.560T>G) c.561T>G (p.Phe187Leu) | |
| 3 | g.87259984A>G | CA2501076 | POU1F1 | c.864T>C (p.Phe288=) c.786T>C (p.Phe262=) c.560T>C (n.560T>C) c.561T>C (p.Phe187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87259984A>T | CA353698143 | POU1F1 | c.864T>A (p.Phe288Leu) c.786T>A (p.Phe262Leu) c.560T>A (n.560T>A) c.561T>A (p.Phe187Leu) | |
| 3 | g.87259985A>C | CA353698144 | POU1F1 | c.863T>G (p.Phe288Cys) c.785T>G (p.Phe262Cys) c.559T>G (n.559T>G) c.560T>G (p.Phe187Cys) | |
| 3 | g.87259985A>G | CA353698145 | POU1F1 | c.863T>C (p.Phe288Ser) c.785T>C (p.Phe262Ser) c.559T>C (n.559T>C) c.560T>C (p.Phe187Ser) | |
| 3 | g.87259985A>T | CA353698146 | POU1F1 | c.863T>A (p.Phe288Tyr) c.785T>A (p.Phe262Tyr) c.559T>A (n.559T>A) c.560T>A (p.Phe187Tyr) | |
| 3 | g.87259986A>C | CA353698147 | POU1F1 | c.862T>G (p.Phe288Val) c.784T>G (p.Phe262Val) c.558T>G (n.558T>G) c.559T>G (p.Phe187Val) | |
| 3 | g.87259986A>G | CA353698148 | POU1F1 | c.862T>C (p.Phe288Leu) c.784T>C (p.Phe262Leu) c.558T>C (n.558T>C) c.559T>C (p.Phe187Leu) | |
| 3 | g.87259986A>T | CA353698149 | POU1F1 | c.862T>A (p.Phe288Ile) c.784T>A (p.Phe262Ile) c.558T>A (n.558T>A) c.559T>A (p.Phe187Ile) | |
| 3 | g.87259987C>A | CA353698150 | POU1F1 | c.861G>T (p.Trp287Cys) c.783G>T (p.Trp261Cys) c.557G>T (n.557G>T) c.558G>T (p.Trp186Cys) | |
| 3 | g.87259987C>G | CA353698151 | POU1F1 | c.861G>C (p.Trp287Cys) c.783G>C (p.Trp261Cys) c.557G>C (n.557G>C) c.558G>C (p.Trp186Cys) | |
| 3 | g.87259987C>T | CA353698152 | POU1F1 | c.861G>A (p.Trp287Ter) c.783G>A (p.Trp261Ter) c.557G>A (n.557G>A) c.558G>A (p.Trp186Ter) | ClinVar |
| 3 | g.87259988C>A | CA353698153 | POU1F1 | c.860G>T (p.Trp287Leu) c.782G>T (p.Trp261Leu) c.556G>T (n.556G>T) c.557G>T (p.Trp186Leu) | |
| 3 | g.87259988C>G | CA353698155 | POU1F1 | c.860G>C (p.Trp287Ser) c.782G>C (p.Trp261Ser) c.556G>C (n.556G>C) c.557G>C (p.Trp186Ser) | |
| 3 | g.87259988C>T | CA353698154 | POU1F1 | c.860G>A (p.Trp287Ter) c.782G>A (p.Trp261Ter) c.556G>A (n.556G>A) c.557G>A (p.Trp186Ter) | |
| 3 | g.87259989A>C | CA353698156 | POU1F1 | c.859T>G (p.Trp287Gly) c.781T>G (p.Trp261Gly) c.555T>G (n.555T>G) c.556T>G (p.Trp186Gly) | |
| 3 | g.87259989A>G | CA353698157 | POU1F1 | c.859T>C (p.Trp287Arg) c.781T>C (p.Trp261Arg) c.555T>C (n.555T>C) c.556T>C (p.Trp186Arg) | gnomAD v4 |
| 3 | g.87259989A>T | CA353698158 | POU1F1 | c.859T>A (p.Trp287Arg) c.781T>A (p.Trp261Arg) c.555T>A (n.555T>A) c.556T>A (p.Trp186Arg) | |
| 3 | g.87259990A= | CA1381564029 | POU1F1 | c.858T= (p.Val286=) c.780T= (p.Val260=) c.554T= (n.554T=) c.555T= (p.Val185=) | |
| 3 | g.87259990A>C | CA434579491 | POU1F1 | c.858T>G (p.Val286=) c.780T>G (p.Val260=) c.554T>G (n.554T>G) c.555T>G (p.Val185=) | |
| 3 | g.87259990A>G | CA434579496 | POU1F1 | c.858T>C (p.Val286=) c.780T>C (p.Val260=) c.554T>C (n.554T>C) c.555T>C (p.Val185=) | dbSNP |
| 3 | g.87259990A>T | CA434579494 | POU1F1 | c.858T>A (p.Val286=) c.780T>A (p.Val260=) c.554T>A (n.554T>A) c.555T>A (p.Val185=) | |
| 3 | g.87259991A>C | CA353698159 | POU1F1 | c.857T>G (p.Val286Gly) c.779T>G (p.Val260Gly) c.553T>G (n.553T>G) c.554T>G (p.Val185Gly) | |
| 3 | g.87259991A>G | CA353698160 | POU1F1 | c.857T>C (p.Val286Ala) c.779T>C (p.Val260Ala) c.553T>C (n.553T>C) c.554T>C (p.Val185Ala) | |
| 3 | g.87259991A>T | CA353698161 | POU1F1 | c.857T>A (p.Val286Asp) c.779T>A (p.Val260Asp) c.553T>A (n.553T>A) c.554T>A (p.Val185Asp) | |
| 3 | g.87259991_87259993delinsACT | CA1381564031 | POU1F1 | c.855_857delinsAGT (p.Arg285=) c.777_779delinsAGT (p.Arg259=) c.551_553delinsAGT (n.551_553delinsAGT) c.552_554delinsAGT (p.Arg184=) | |
| 3 | g.87259992C>A | CA353698162 | POU1F1 | c.856G>T (p.Val286Phe) c.778G>T (p.Val260Phe) c.552G>T (n.552G>T) c.553G>T (p.Val185Phe) | |
| 3 | g.87259992C= | CA1381564037 | POU1F1 | c.856G= (p.Val286=) c.778G= (p.Val260=) c.552G= (n.552G=) c.553G= (p.Val185=) | |
| 3 | g.87259992C>G | CA353698163 | POU1F1 | c.856G>C (p.Val286Leu) c.778G>C (p.Val260Leu) c.552G>C (n.552G>C) c.553G>C (p.Val185Leu) | |
| 3 | g.87259992C>T | CA2501078 | POU1F1 | c.856G>A (p.Val286Ile) c.778G>A (p.Val260Ile) c.552G>A (n.552G>A) c.553G>A (p.Val185Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87259994_87259995del | CA2501077 | POU1F1 | c.855_856del (p.Arg285SerfsTer26) c.777_778del (p.Arg259SerfsTer26) c.551_552del (n.551_552del) c.552_553del (p.Arg184SerfsTer26) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87259993T>A | CA353698164 | POU1F1 | c.855A>T (p.Arg285Ser) c.777A>T (p.Arg259Ser) c.551A>T (n.551A>T) c.552A>T (p.Arg184Ser) | |
| 3 | g.87259993T>C | CA434579508 | POU1F1 | c.855A>G (p.Arg285=) c.777A>G (p.Arg259=) c.551A>G (n.551A>G) c.552A>G (p.Arg184=) | dbSNP |
| 3 | g.87259993T>G | CA353698165 | POU1F1 | c.855A>C (p.Arg285Ser) c.777A>C (p.Arg259Ser) c.551A>C (n.551A>C) c.552A>C (p.Arg184Ser) | |
| 3 | g.87259994C>A | CA353698168 | POU1F1 | c.854G>T (p.Arg285Ile) c.776G>T (p.Arg259Ile) c.550G>T (n.550G>T) c.551G>T (p.Arg184Ile) | |
| 3 | g.87259994C= | CA1381564039 | POU1F1 | c.854G= (p.Arg285=) c.776G= (p.Arg259=) c.550G= (n.550G=) c.551G= (p.Arg184=) | |
| 3 | g.87259994C>G | CA353698166 | POU1F1 | c.854G>C (p.Arg285Thr) c.776G>C (p.Arg259Thr) c.550G>C (n.550G>C) c.551G>C (p.Arg184Thr) | |
| 3 | g.87259994C>T | CA353698167 | POU1F1 | c.854G>A (p.Arg285Lys) c.776G>A (p.Arg259Lys) c.550G>A (n.550G>A) c.551G>A (p.Arg184Lys) | |
| 3 | g.87259995T>A | CA353698169 | POU1F1 | c.853A>T (p.Arg285Ter) c.775A>T (p.Arg259Ter) c.549A>T (n.549A>T) c.550A>T (p.Arg184Ter) | |
| 3 | g.87259995T>C | CA2501079 | POU1F1 | c.853A>G (p.Arg285Gly) c.775A>G (p.Arg259Gly) c.549A>G (n.549A>G) c.550A>G (p.Arg184Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87259995T>G | CA434579519 | POU1F1 | c.853A>C (p.Arg285=) c.775A>C (p.Arg259=) c.549A>C (n.549A>C) c.550A>C (p.Arg184=) | |
| 3 | g.87259995T= | CA1381564042 | POU1F1 | c.853A= (p.Arg285=) c.775A= (p.Arg259=) c.549A= (n.549A=) c.550A= (p.Arg184=) | |
| 3 | g.87259996dup | CA250628 | POU1F1 | c.853dup (p.Arg285LysfsTer27) c.775dup (p.Arg259LysfsTer27) c.549dup (n.549dup) c.550dup (p.Arg184LysfsTer27) | ClinVar dbSNP gnomAD v4 |
| 3 | g.87259996T>A | CA434579522 | POU1F1 | c.852A>T (p.Val284=) c.774A>T (p.Val258=) c.548A>T (n.548A>T) c.549A>T (p.Val183=) | |
| 3 | g.87259996T>C | CA434579525 | POU1F1 | c.852A>G (p.Val284=) c.774A>G (p.Val258=) c.548A>G (n.548A>G) c.549A>G (p.Val183=) | |
| 3 | g.87259996T>G | CA434579523 | POU1F1 | c.852A>C (p.Val284=) c.774A>C (p.Val258=) c.548A>C (n.548A>C) c.549A>C (p.Val183=) | |
| 3 | g.87259997del | CA2666629391 | POU1F1 | c.851del (p.Val284GlufsTer15) c.773del (p.Val258GlufsTer15) c.547del (n.547del) c.548del (p.Val183GlufsTer15) | gnomAD v4 |
| 3 | g.87259997A>C | CA353698170 | POU1F1 | c.851T>G (p.Val284Gly) c.773T>G (p.Val258Gly) c.547T>G (n.547T>G) c.548T>G (p.Val183Gly) | |
| 3 | g.87259997A>G | CA353698171 | POU1F1 | c.851T>C (p.Val284Ala) c.773T>C (p.Val258Ala) c.547T>C (n.547T>C) c.548T>C (p.Val183Ala) | |
| 3 | g.87259997A>T | CA353698172 | POU1F1 | c.851T>A (p.Val284Glu) c.773T>A (p.Val258Glu) c.547T>A (n.547T>A) c.548T>A (p.Val183Glu) | |
| 3 | g.87259997dup | CA2586972585 | POU1F1 | c.851dup (p.Arg285LysfsTer27) c.773dup (p.Arg259LysfsTer27) c.547dup (n.547dup) c.548dup (p.Arg184LysfsTer27) | gnomAD v4 |
| 3 | g.87259998C>A | CA353698173 | POU1F1 | c.850G>T (p.Val284Leu) c.772G>T (p.Val258Leu) c.546G>T (n.546G>T) c.547G>T (p.Val183Leu) | |
| 3 | g.87259998C>G | CA353698174 | POU1F1 | c.850G>C (p.Val284Leu) c.772G>C (p.Val258Leu) c.546G>C (n.546G>C) c.547G>C (p.Val183Leu) | |
| 3 | g.87259998C>T | CA353698175 | POU1F1 | c.850G>A (p.Val284Ile) c.772G>A (p.Val258Ile) c.546G>A (n.546G>A) c.547G>A (p.Val183Ile) | |
| 3 | g.87259999T>A | CA434579534 | POU1F1 | c.849A>T (p.Val283=) c.771A>T (p.Val257=) c.545A>T (n.545A>T) c.546A>T (p.Val182=) | |
| 3 | g.87259999T>C | CA2501080 | POU1F1 | c.849A>G (p.Val283=) c.771A>G (p.Val257=) c.545A>G (n.545A>G) c.546A>G (p.Val182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87259999T>G | CA434579537 | POU1F1 | c.849A>C (p.Val283=) c.771A>C (p.Val257=) c.545A>C (n.545A>C) c.546A>C (p.Val182=) | |
| 3 | g.87259999T= | CA1381564046 | POU1F1 | c.849A= (p.Val283=) c.771A= (p.Val257=) c.545A= (n.545A=) c.546A= (p.Val182=) | |
| 3 | g.87260000A>C | CA353698176 | POU1F1 | c.848T>G (p.Val283Gly) c.770T>G (p.Val257Gly) c.544T>G (n.544T>G) c.545T>G (p.Val182Gly) | |
| 3 | g.87260000A>G | CA353698177 | POU1F1 | c.848T>C (p.Val283Ala) c.770T>C (p.Val257Ala) c.544T>C (n.544T>C) c.545T>C (p.Val182Ala) | |
| 3 | g.87260000A>T | CA353698178 | POU1F1 | c.848T>A (p.Val283Glu) c.770T>A (p.Val257Glu) c.544T>A (n.544T>A) c.545T>A (p.Val182Glu) | |
| 3 | g.87260001C>A | CA353698181 | POU1F1 | c.847G>T (p.Val283Leu) c.769G>T (p.Val257Leu) c.543G>T (n.543G>T) c.544G>T (p.Val182Leu) | |
| 3 | g.87260001C>G | CA353698179 | POU1F1 | c.847G>C (p.Val283Leu) c.769G>C (p.Val257Leu) c.543G>C (n.543G>C) c.544G>C (p.Val182Leu) | |
| 3 | g.87260001C>T | CA353698180 | POU1F1 | c.847G>A (p.Val283Ile) c.769G>A (p.Val257Ile) c.543G>A (n.543G>A) c.544G>A (p.Val182Ile) | |
| 3 | g.87260004_87260006del | CA645523202 | POU1F1 | c.845_847del (p.Glu282del) c.767_769del (p.Glu256del) c.541_543del (n.541_543del) c.542_544del (p.Glu181del) | COSMIC COSMIC |
| 3 | g.87260002T>A | CA353698182 | POU1F1 | c.846A>T (p.Glu282Asp) c.768A>T (p.Glu256Asp) c.542A>T (n.542A>T) c.543A>T (p.Glu181Asp) | |
| 3 | g.87260002T>C | CA434579550 | POU1F1 | c.846A>G (p.Glu282=) c.768A>G (p.Glu256=) c.542A>G (n.542A>G) c.543A>G (p.Glu181=) | |
| 3 | g.87260002T>G | CA353698183 | POU1F1 | c.846A>C (p.Glu282Asp) c.768A>C (p.Glu256Asp) c.542A>C (n.542A>C) c.543A>C (p.Glu181Asp) | |
| 3 | g.87260003T>A | CA2501081 | POU1F1 | c.845A>T (p.Glu282Val) c.767A>T (p.Glu256Val) c.541A>T (n.541A>T) c.542A>T (p.Glu181Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87260003T>C | CA353698184 | POU1F1 | c.845A>G (p.Glu282Gly) c.767A>G (p.Glu256Gly) c.541A>G (n.541A>G) c.542A>G (p.Glu181Gly) | |
| 3 | g.87260003T>G | CA353698185 | POU1F1 | c.845A>C (p.Glu282Ala) c.767A>C (p.Glu256Ala) c.541A>C (n.541A>C) c.542A>C (p.Glu181Ala) | |
| 3 | g.87260003T= | CA1381564054 | POU1F1 | c.845A= (p.Glu282=) c.767A= (p.Glu256=) c.541A= (n.541A=) c.542A= (p.Glu181=) | |
| 3 | g.87260004C>A | CA353698186 | POU1F1 | c.844G>T (p.Glu282Ter) c.766G>T (p.Glu256Ter) c.540G>T (n.540G>T) c.541G>T (p.Glu181Ter) | |
| 3 | g.87260004C>G | CA353698187 | POU1F1 | c.844G>C (p.Glu282Gln) c.766G>C (p.Glu256Gln) c.540G>C (n.540G>C) c.541G>C (p.Glu181Gln) | |
| 3 | g.87260004C>T | CA353698188 | POU1F1 | c.844G>A (p.Glu282Lys) c.766G>A (p.Glu256Lys) c.540G>A (n.540G>A) c.541G>A (p.Glu181Lys) | |
| 3 | g.87260005T>A | CA353698189 | POU1F1 | c.843A>T (p.Lys281Asn) c.765A>T (p.Lys255Asn) c.539A>T (n.539A>T) c.540A>T (p.Lys180Asn) | |
| 3 | g.87260005T>C | CA434579562 | POU1F1 | c.843A>G (p.Lys281=) c.765A>G (p.Lys255=) c.539A>G (n.539A>G) c.540A>G (p.Lys180=) | |
| 3 | g.87260005T>G | CA353698190 | POU1F1 | c.843A>C (p.Lys281Asn) c.765A>C (p.Lys255Asn) c.539A>C (n.539A>C) c.540A>C (p.Lys180Asn) | |
| 3 | g.87260006T>A | CA353698191 | POU1F1 | c.842A>T (p.Lys281Ile) c.764A>T (p.Lys255Ile) c.538A>T (n.538A>T) c.539A>T (p.Lys180Ile) | |
| 3 | g.87260006T>C | CA353698192 | POU1F1 | c.842A>G (p.Lys281Arg) c.764A>G (p.Lys255Arg) c.538A>G (n.538A>G) c.539A>G (p.Lys180Arg) | |
| 3 | g.87260006T>G | CA353698193 | POU1F1 | c.842A>C (p.Lys281Thr) c.764A>C (p.Lys255Thr) c.538A>C (n.538A>C) c.539A>C (p.Lys180Thr) | |
| 3 | g.87260007T>A | CA353698196 | POU1F1 | c.841A>T (p.Lys281Ter) c.763A>T (p.Lys255Ter) c.537A>T (n.537A>T) c.538A>T (p.Lys180Ter) | |
| 3 | g.87260007T>C | CA353698195 | POU1F1 | c.841A>G (p.Lys281Glu) c.763A>G (p.Lys255Glu) c.537A>G (n.537A>G) c.538A>G (p.Lys180Glu) | |
| 3 | g.87260007T>G | CA353698194 | POU1F1 | c.841A>C (p.Lys281Gln) c.763A>C (p.Lys255Gln) c.537A>C (n.537A>C) c.538A>C (p.Lys180Gln) | |
| 3 | g.87260008C>A | CA353698197 | POU1F1 | c.840G>T (p.Glu280Asp) c.762G>T (p.Glu254Asp) c.536G>T (n.536G>T) c.537G>T (p.Glu179Asp) | |
| 3 | g.87260008C>G | CA353698198 | POU1F1 | c.840G>C (p.Glu280Asp) c.762G>C (p.Glu254Asp) c.536G>C (n.536G>C) c.537G>C (p.Glu179Asp) | |
| 3 | g.87260008C>T | CA434579573 | POU1F1 | c.840G>A (p.Glu280=) c.762G>A (p.Glu254=) c.536G>A (n.536G>A) c.537G>A (p.Glu179=) | |
| 3 | g.87260009T>A | CA353698199 | POU1F1 | c.839A>T (p.Glu280Val) c.761A>T (p.Glu254Val) c.535A>T (n.535A>T) c.536A>T (p.Glu179Val) | |
| 3 | g.87260009T>C | CA353698200 | POU1F1 | c.839A>G (p.Glu280Gly) c.761A>G (p.Glu254Gly) c.535A>G (n.535A>G) c.536A>G (p.Glu179Gly) | gnomAD v4 |
| 3 | g.87260009T>G | CA353698201 | POU1F1 | c.839A>C (p.Glu280Ala) c.761A>C (p.Glu254Ala) c.535A>C (n.535A>C) c.536A>C (p.Glu179Ala) | |
| 3 | g.87260010C>A | CA353698202 | POU1F1 | c.838G>T (p.Glu280Ter) c.760G>T (p.Glu254Ter) c.534G>T (n.534G>T) c.535G>T (p.Glu179Ter) | |
| 3 | g.87260010C= | CA1381564055 | POU1F1 | c.838G= (p.Glu280=) c.760G= (p.Glu254=) c.534G= (n.534G=) c.535G= (p.Glu179=) | |
| 3 | g.87260010C>G | CA353698203 | POU1F1 | c.838G>C (p.Glu280Gln) c.760G>C (p.Glu254Gln) c.534G>C (n.534G>C) c.535G>C (p.Glu179Gln) | dbSNP |
| 3 | g.87260010C>T | CA2501082 | POU1F1 | c.838G>A (p.Glu280Lys) c.760G>A (p.Glu254Lys) c.534G>A (n.534G>A) c.535G>A (p.Glu179Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87260011C>A | CA434579582 | POU1F1 | c.837G>T (p.Leu279=) c.759G>T (p.Leu253=) c.533G>T (n.533G>T) c.534G>T (p.Leu178=) | |
| 3 | g.87260011C= | CA1381564057 | POU1F1 | c.837G= (p.Leu279=) c.759G= (p.Leu253=) c.533G= (n.533G=) c.534G= (p.Leu178=) | |
| 3 | g.87260011C>G | CA434579583 | POU1F1 | c.837G>C (p.Leu279=) c.759G>C (p.Leu253=) c.533G>C (n.533G>C) c.534G>C (p.Leu178=) | |
| 3 | g.87260011C>T | CA79036446 | POU1F1 | c.837G>A (p.Leu279=) c.759G>A (p.Leu253=) c.533G>A (n.533G>A) c.534G>A (p.Leu178=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87260012A>C | CA353698204 | POU1F1 | c.836T>G (p.Leu279Arg) c.758T>G (p.Leu253Arg) c.532T>G (n.532T>G) c.533T>G (p.Leu178Arg) | |
| 3 | g.87260012A>G | CA353698205 | POU1F1 | c.836T>C (p.Leu279Pro) c.758T>C (p.Leu253Pro) c.532T>C (n.532T>C) c.533T>C (p.Leu178Pro) | gnomAD v4 |
| 3 | g.87260012A>T | CA353698206 | POU1F1 | c.836T>A (p.Leu279Gln) c.758T>A (p.Leu253Gln) c.532T>A (n.532T>A) c.533T>A (p.Leu178Gln) | |
| 3 | g.87260013G>A | CA434579596 | POU1F1 | c.835C>T (p.Leu279=) c.757C>T (p.Leu253=) c.531C>T (n.531C>T) c.532C>T (p.Leu178=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.87260013G>C | CA2501083 | POU1F1 | c.835C>G (p.Leu279Val) c.757C>G (p.Leu253Val) c.531C>G (n.531C>G) c.532C>G (p.Leu178Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.87260013G= | CA1381564060 | POU1F1 | c.835C= (p.Leu279=) c.757C= (p.Leu253=) c.531C= (n.531C=) c.532C= (p.Leu178=) | |
| 3 | g.87260013G>T | CA353698207 | POU1F1 | c.835C>A (p.Leu279Met) c.757C>A (p.Leu253Met) c.531C>A (n.531C>A) c.532C>A (p.Leu178Met) | |
| 3 | g.87260014A>C | CA353698209 | POU1F1 | c.834T>G (p.Asn278Lys) c.756T>G (p.Asn252Lys) c.530T>G (n.530T>G) c.531T>G (p.Asn177Lys) | |
| 3 | g.87260014A>G | CA434579603 | POU1F1 | c.834T>C (p.Asn278=) c.756T>C (p.Asn252=) c.530T>C (n.530T>C) c.531T>C (p.Asn177=) | |
| 3 | g.87260014A>T | CA353698208 | POU1F1 | c.834T>A (p.Asn278Lys) c.756T>A (p.Asn252Lys) c.530T>A (n.530T>A) c.531T>A (p.Asn177Lys) | |
| 3 | g.87260015T>A | CA353698210 | POU1F1 | c.833A>T (p.Asn278Ile) c.755A>T (p.Asn252Ile) c.529A>T (n.529A>T) c.530A>T (p.Asn177Ile) | |
| 3 | g.87260015T>C | CA353698211 | POU1F1 | c.833A>G (p.Asn278Ser) c.755A>G (p.Asn252Ser) c.529A>G (n.529A>G) c.530A>G (p.Asn177Ser) | |
| 3 | g.87260015T>G | CA353698212 | POU1F1 | c.833A>C (p.Asn278Thr) c.755A>C (p.Asn252Thr) c.529A>C (n.529A>C) c.530A>C (p.Asn177Thr) | |
| 3 | g.87260016T>A | CA2501084 | POU1F1 | c.832A>T (p.Asn278Tyr) c.754A>T (p.Asn252Tyr) c.528A>T (n.528A>T) c.529A>T (p.Asn177Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87260016T>C | CA353698213 | POU1F1 | c.832A>G (p.Asn278Asp) c.754A>G (p.Asn252Asp) c.528A>G (n.528A>G) c.529A>G (p.Asn177Asp) | |
| 3 | g.87260016T>G | CA353698214 | POU1F1 | c.832A>C (p.Asn278His) c.754A>C (p.Asn252His) c.528A>C (n.528A>C) c.529A>C (p.Asn177His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.87260016T= | CA1381564065 | POU1F1 | c.832A= (p.Asn278=) c.754A= (p.Asn252=) c.528A= (n.528A=) c.529A= (p.Asn177=) | |
| 3 | g.87260017C>A | CA2501085 | POU1F1 | c.831G>T (p.Leu277=) c.753G>T (p.Leu251=) c.527G>T (n.527G>T) c.528G>T (p.Leu176=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87260017C= | CA1381564068 | POU1F1 | c.831G= (p.Leu277=) c.753G= (p.Leu251=) c.527G= (n.527G=) c.528G= (p.Leu176=) | |
| 3 | g.87260017C>G | CA434579625 | POU1F1 | c.831G>C (p.Leu277=) c.753G>C (p.Leu251=) c.527G>C (n.527G>C) c.528G>C (p.Leu176=) | |
| 3 | g.87260017C>T | CA434579623 | POU1F1 | c.831G>A (p.Leu277=) c.753G>A (p.Leu251=) c.527G>A (n.527G>A) c.528G>A (p.Leu176=) | |
| 3 | g.87260018A>C | CA353698215 | POU1F1 | c.830T>G (p.Leu277Arg) c.752T>G (p.Leu251Arg) c.526T>G (n.526T>G) c.527T>G (p.Leu176Arg) | |
| 3 | g.87260018A>G | CA353698217 | POU1F1 | c.830T>C (p.Leu277Pro) c.752T>C (p.Leu251Pro) c.526T>C (n.526T>C) c.527T>C (p.Leu176Pro) | |
| 3 | g.87260018A>T | CA353698216 | POU1F1 | c.830T>A (p.Leu277Gln) c.752T>A (p.Leu251Gln) c.526T>A (n.526T>A) c.527T>A (p.Leu176Gln) | |
| 3 | g.87260019G>A | CA434579633 | POU1F1 | c.829C>T (p.Leu277=) c.751C>T (p.Leu251=) c.525C>T (n.525C>T) c.526C>T (p.Leu176=) | |
| 3 | g.87260019G>C | CA353698218 | POU1F1 | c.829C>G (p.Leu277Val) c.751C>G (p.Leu251Val) c.525C>G (n.525C>G) c.526C>G (p.Leu176Val) | |
| 3 | g.87260019G>T | CA353698219 | POU1F1 | c.829C>A (p.Leu277Met) c.751C>A (p.Leu251Met) c.525C>A (n.525C>A) c.526C>A (p.Leu176Met) | |
| 3 | g.87260020T>A | CA353698220 | POU1F1 | c.828A>T (p.Glu276Asp) c.750A>T (p.Glu250Asp) c.524A>T (n.524A>T) c.525A>T (p.Glu175Asp) | |
| 3 | g.87260020T>C | CA434579638 | POU1F1 | c.828A>G (p.Glu276=) c.750A>G (p.Glu250=) c.524A>G (n.524A>G) c.525A>G (p.Glu175=) | |
| 3 | g.87260020T>G | CA353698221 | POU1F1 | c.828A>C (p.Glu276Asp) c.750A>C (p.Glu250Asp) c.524A>C (n.524A>C) c.525A>C (p.Glu175Asp) | |
| 3 | g.87260021T>A | CA353698224 | POU1F1 | c.827A>T (p.Glu276Val) c.749A>T (p.Glu250Val) c.523A>T (n.523A>T) c.524A>T (p.Glu175Val) | |
| 3 | g.87260021T>C | CA353698222 | POU1F1 | c.827A>G (p.Glu276Gly) c.749A>G (p.Glu250Gly) c.523A>G (n.523A>G) c.524A>G (p.Glu175Gly) | |
| 3 | g.87260021T>G | CA353698223 | POU1F1 | c.827A>C (p.Glu276Ala) c.749A>C (p.Glu250Ala) c.523A>C (n.523A>C) c.524A>C (p.Glu175Ala) | |
| 3 | g.87260022C>A | CA250611 | POU1F1 | c.826G>T (p.Glu276Ter) c.748G>T (p.Glu250Ter) c.522G>T (n.522G>T) c.523G>T (p.Glu175Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.87260022C= | CA1381564072 | POU1F1 | c.826G= (p.Glu276=) c.748G= (p.Glu250=) c.522G= (n.522G=) c.523G= (p.Glu175=) | |
| 3 | g.87260022C>G | CA353698225 | POU1F1 | c.826G>C (p.Glu276Gln) c.748G>C (p.Glu250Gln) c.522G>C (n.522G>C) c.523G>C (p.Glu175Gln) | |
| 3 | g.87260022C>T | CA353698226 | POU1F1 | c.826G>A (p.Glu276Lys) c.748G>A (p.Glu250Lys) c.522G>A (n.522G>A) c.523G>A (p.Glu175Lys) | |
| 3 | g.87260022_87260023delinsCT | CA1381564074 | POU1F1 | c.825_826delinsAG (p.Glu275=) c.747_748delinsAG (p.Glu249=) c.521_522delinsAG (n.521_522delinsAG) c.522_523delinsAG (p.Glu174=) | |
| 3 | g.87260023T>A | CA353698227 | POU1F1 | c.825A>T (p.Glu275Asp) c.747A>T (p.Glu249Asp) c.521A>T (n.521A>T) c.522A>T (p.Glu174Asp) | |
| 3 | g.87260023T>C | CA434579649 | POU1F1 | c.825A>G (p.Glu275=) c.747A>G (p.Glu249=) c.521A>G (n.521A>G) c.522A>G (p.Glu174=) | |
| 3 | g.87260023T>G | CA353698228 | POU1F1 | c.825A>C (p.Glu275Asp) c.747A>C (p.Glu249Asp) c.521A>C (n.521A>C) c.522A>C (p.Glu174Asp) | |
| 3 | g.87260024del | CA250618 | POU1F1 | c.825del (p.Glu276AsnfsTer2) c.747del (p.Glu250AsnfsTer2) c.521del (n.521del) c.522del (p.Glu175AsnfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87260024T>A | CA353698229 | POU1F1 | c.824A>T (p.Glu275Val) c.746A>T (p.Glu249Val) c.520A>T (n.520A>T) c.521A>T (p.Glu174Val) | |
| 3 | g.87260024T>C | CA353698230 | POU1F1 | c.824A>G (p.Glu275Gly) c.746A>G (p.Glu249Gly) c.520A>G (n.520A>G) c.521A>G (p.Glu174Gly) | |
| 3 | g.87260024T>G | CA353698231 | POU1F1 | c.824A>C (p.Glu275Ala) c.746A>C (p.Glu249Ala) c.520A>C (n.520A>C) c.521A>C (p.Glu174Ala) | |
| 3 | g.87260025C>A | CA353698232 | POU1F1 | c.823G>T (p.Glu275Ter) c.745G>T (p.Glu249Ter) c.519G>T (n.519G>T) c.520G>T (p.Glu174Ter) | |
| 3 | g.87260025C>G | CA353698233 | POU1F1 | c.823G>C (p.Glu275Gln) c.745G>C (p.Glu249Gln) c.519G>C (n.519G>C) c.520G>C (p.Glu174Gln) | |
| 3 | g.87260025C>T | CA353698234 | POU1F1 | c.823G>A (p.Glu275Lys) c.745G>A (p.Glu249Lys) c.519G>A (n.519G>A) c.520G>A (p.Glu174Lys) | |
| 3 | g.87260026A>C | CA434579661 | POU1F1 | c.822T>G (p.Ala274=) c.744T>G (p.Ala248=) c.518T>G (n.518T>G) c.519T>G (p.Ala173=) | |
| 3 | g.87260026A>G | CA434579665 | POU1F1 | c.822T>C (p.Ala274=) c.744T>C (p.Ala248=) c.518T>C (n.518T>C) c.519T>C (p.Ala173=) | COSMIC COSMIC |
| 3 | g.87260026A>T | CA434579663 | POU1F1 | c.822T>A (p.Ala274=) c.744T>A (p.Ala248=) c.518T>A (n.518T>A) c.519T>A (p.Ala173=) | |
| 3 | g.87260027G>A | CA353698235 | POU1F1 | c.821C>T (p.Ala274Val) c.743C>T (p.Ala248Val) c.517C>T (n.517C>T) c.518C>T (p.Ala173Val) | dbSNP gnomAD v4 |
| 3 | g.87260027G>C | CA353698237 | POU1F1 | c.821C>G (p.Ala274Gly) c.743C>G (p.Ala248Gly) c.517C>G (n.517C>G) c.518C>G (p.Ala173Gly) | |
| 3 | g.87260027G= | CA1381564083 | POU1F1 | c.821C= (p.Ala274=) c.743C= (p.Ala248=) c.517C= (n.517C=) c.518C= (p.Ala173=) | |
| 3 | g.87260027G>T | CA353698236 | POU1F1 | c.821C>A (p.Ala274Asp) c.743C>A (p.Ala248Asp) c.517C>A (n.517C>A) c.518C>A (p.Ala173Asp) | |
| 3 | g.87260028C>A | CA353698238 | POU1F1 | c.820G>T (p.Ala274Ser) c.742G>T (p.Ala248Ser) c.516G>T (n.516G>T) c.517G>T (p.Ala173Ser) | |
| 3 | g.87260028C= | CA1381564085 | POU1F1 | c.820G= (p.Ala274=) c.742G= (p.Ala248=) c.516G= (n.516G=) c.517G= (p.Ala173=) | |
| 3 | g.87260028C>G | CA353698240 | POU1F1 | c.820G>C (p.Ala274Pro) c.742G>C (p.Ala248Pro) c.516G>C (n.516G>C) c.517G>C (p.Ala173Pro) | |
| 3 | g.87260028C>T | CA353698239 | POU1F1 | c.820G>A (p.Ala274Thr) c.742G>A (p.Ala248Thr) c.516G>A (n.516G>A) c.517G>A (p.Ala173Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.87260029C>A | CA353698241 | POU1F1 | c.819G>T (p.Met273Ile) c.741G>T (p.Met247Ile) c.515G>T (n.515G>T) c.516G>T (p.Met172Ile) | |
| 3 | g.87260029C>G | CA353698243 | POU1F1 | c.819G>C (p.Met273Ile) c.741G>C (p.Met247Ile) c.515G>C (n.515G>C) c.516G>C (p.Met172Ile) | |
| 3 | g.87260029C>T | CA353698242 | POU1F1 | c.819G>A (p.Met273Ile) c.741G>A (p.Met247Ile) c.515G>A (n.515G>A) c.516G>A (p.Met172Ile) | |
| 3 | g.87260030A>C | CA353698244 | POU1F1 | c.818T>G (p.Met273Arg) c.740T>G (p.Met247Arg) c.514T>G (n.514T>G) c.515T>G (p.Met172Arg) | |
| 3 | g.87260030A>G | CA353698246 | POU1F1 | c.818T>C (p.Met273Thr) c.740T>C (p.Met247Thr) c.514T>C (n.514T>C) c.515T>C (p.Met172Thr) | |
| 3 | g.87260030A>T | CA353698245 | POU1F1 | c.818T>A (p.Met273Lys) c.740T>A (p.Met247Lys) c.514T>A (n.514T>A) c.515T>A (p.Met172Lys) | |
| 3 | g.87260031T>A | CA353698247 | POU1F1 | c.817A>T (p.Met273Leu) c.739A>T (p.Met247Leu) c.513A>T (n.513A>T) c.514A>T (p.Met172Leu) | |
| 3 | g.87260031T>C | CA353698248 | POU1F1 | c.817A>G (p.Met273Val) c.739A>G (p.Met247Val) c.513A>G (n.513A>G) c.514A>G (p.Met172Val) | |
| 3 | g.87260031T>G | CA353698249 | POU1F1 | c.817A>C (p.Met273Leu) c.739A>C (p.Met247Leu) c.513A>C (n.513A>C) c.514A>C (p.Met172Leu) | |
| 3 | g.87260032C>A | CA353698250 | POU1F1 | c.816G>T (p.Arg272Ser) c.738G>T (p.Arg246Ser) c.512G>T (n.512G>T) c.513G>T (p.Arg171Ser) | |
| 3 | g.87260032C>G | CA353698251 | POU1F1 | c.816G>C (p.Arg272Ser) c.738G>C (p.Arg246Ser) c.512G>C (n.512G>C) c.513G>C (p.Arg171Ser) | |
| 3 | g.87260032C>T | CA434579688 | POU1F1 | c.816G>A (p.Arg272=) c.738G>A (p.Arg246=) c.512G>A (n.512G>A) c.513G>A (p.Arg171=) | gnomAD v4 |
| 3 | g.87260033C>A | CA353698252 | POU1F1 | c.815G>T (p.Arg272Met) c.737G>T (p.Arg246Met) c.511G>T (n.511G>T) c.512G>T (p.Arg171Met) | |
| 3 | g.87260033C= | CA1381564087 | POU1F1 | c.815G= (p.Arg272=) c.737G= (p.Arg246=) c.511G= (n.511G=) c.512G= (p.Arg171=) | |
| 3 | g.87260033C>G | CA353698253 | POU1F1 | c.815G>C (p.Arg272Thr) c.737G>C (p.Arg246Thr) c.511G>C (n.511G>C) c.512G>C (p.Arg171Thr) | |
| 3 | g.87260033C>T | CA2501086 | POU1F1 | c.815G>A (p.Arg272Lys) c.737G>A (p.Arg246Lys) c.511G>A (n.511G>A) c.512G>A (p.Arg171Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87260034T>A | CA353698254 | POU1F1 | c.814A>T (p.Arg272Trp) c.736A>T (p.Arg246Trp) c.510A>T (p.Ter170Cys) c.511A>T (p.Arg171Trp) | |
| 3 | g.87260034T>C | CA353698255 | POU1F1 | c.814A>G (p.Arg272Gly) c.736A>G (p.Arg246Gly) c.510A>G (p.Ter170Trp) c.511A>G (p.Arg171Gly) | |
| 3 | g.87260034T>G | CA353698256 | POU1F1 | c.814A>C (p.Arg272=) c.736A>C (p.Arg246=) c.510A>C (p.Ter170Cys) c.511A>C (p.Arg171=) | |
| 3 | g.87260035C>A | CA353698257 | POU1F1 | c.813G>T (p.Met271Ile) c.735G>T (p.Met245Ile) c.509G>T (p.Ter170Leu) c.510G>T (p.Met170Ile) | |
| 3 | g.87260035C>G | CA353698259 | POU1F1 | c.813G>C (p.Met271Ile) c.735G>C (p.Met245Ile) c.509G>C (p.Ter170Ser) c.510G>C (p.Met170Ile) | |
| 3 | g.87260035C>T | CA353698258 | POU1F1 | c.813G>A (p.Met271Ile) c.735G>A (p.Met245Ile) c.509G>A (p.Ter170=) c.510G>A (p.Met170Ile) | COSMIC COSMIC |
| 3 | g.87260036A= | CA1381564089 | POU1F1 | c.812T= (p.Met271=) c.734T= (p.Met245=) c.508T= (p.Ter170=) c.509T= (p.Met170=) | |
| 3 | g.87260036A>C | CA353698260 | POU1F1 | c.812T>G (p.Met271Arg) c.734T>G (p.Met245Arg) c.508T>G (p.Ter170Gly) c.509T>G (p.Met170Arg) | |
| 3 | g.87260036A>G | CA353698261 | POU1F1 | c.812T>C (p.Met271Thr) c.734T>C (p.Met245Thr) c.508T>C (p.Ter170Arg) c.509T>C (p.Met170Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.87260036A>T | CA353698262 | POU1F1 | c.812T>A (p.Met271Lys) c.734T>A (p.Met245Lys) c.508T>A (p.Ter170Arg) c.509T>A (p.Met170Lys) | |
| 3 | g.87260037T>A | CA353698263 | POU1F1 | c.811A>T (p.Met271Leu) c.733A>T (p.Met245Leu) c.507A>T (p.Ser169=) c.508A>T (p.Met170Leu) | |
| 3 | g.87260037T>C | CA353698264 | POU1F1 | c.811A>G (p.Met271Val) c.733A>G (p.Met245Val) c.507A>G (p.Ser169=) c.508A>G (p.Met170Val) | |
| 3 | g.87260037T>G | CA353698265 | POU1F1 | c.811A>C (p.Met271Leu) c.733A>C (p.Met245Leu) c.507A>C (p.Ser169=) c.508A>C (p.Met170Leu) | |
| 3 | g.87260038G>A | CA353698266 | POU1F1 | c.810C>T (p.Ile270=) c.732C>T (p.Ile244=) c.506C>T (p.Ser169Leu) c.507C>T (p.Ile169=) | gnomAD v4 |
| 3 | g.87260038G>C | CA353698267 | POU1F1 | c.810C>G (p.Ile270Met) c.732C>G (p.Ile244Met) c.506C>G (p.Ser169Ter) c.507C>G (p.Ile169Met) | |
| 3 | g.87260038G>T | CA353698268 | POU1F1 | c.810C>A (p.Ile270=) c.732C>A (p.Ile244=) c.506C>A (p.Ser169Ter) c.507C>A (p.Ile169=) | |
| 3 | g.87260039A= | CA1381564092 | POU1F1 | c.809T= (p.Ile270=) c.731T= (p.Ile244=) c.505T= (p.Ser169=) c.506T= (p.Ile169=) | |
| 3 | g.87260039A>C | CA353698270 | POU1F1 | c.809T>G (p.Ile270Ser) c.731T>G (p.Ile244Ser) c.505T>G (p.Ser169Ala) c.506T>G (p.Ile169Ser) | gnomAD v4 |
| 3 | g.87260039A>G | CA2501087 | POU1F1 | c.809T>C (p.Ile270Thr) c.731T>C (p.Ile244Thr) c.505T>C (p.Ser169Pro) c.506T>C (p.Ile169Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87260039A>T | CA353698269 | POU1F1 | c.809T>A (p.Ile270Asn) c.731T>A (p.Ile244Asn) c.505T>A (p.Ser169Thr) c.506T>A (p.Ile169Asn) | |
| 3 | g.87260040T>A | CA353698271 | POU1F1 | c.808A>T (p.Ile270Phe) c.730A>T (p.Ile244Phe) c.504A>T (p.Arg168Ser) c.505A>T (p.Ile169Phe) | |
| 3 | g.87260040T>C | CA353698272 | POU1F1 | c.808A>G (p.Ile270Val) c.730A>G (p.Ile244Val) c.504A>G (p.Arg168=) c.505A>G (p.Ile169Val) | |
| 3 | g.87260040T>G | CA353698273 | POU1F1 | c.808A>C (p.Ile270Leu) c.730A>C (p.Ile244Leu) c.504A>C (p.Arg168Ser) c.505A>C (p.Ile169Leu) | |
| 3 | g.87260041C>A | CA353698274 | POU1F1 | c.807G>T (p.Glu269Asp) c.729G>T (p.Glu243Asp) c.503G>T (p.Arg168Ile) c.504G>T (p.Glu168Asp) | |
| 3 | g.87260041C= | CA1381564096 | POU1F1 | c.807G= (p.Glu269=) c.729G= (p.Glu243=) c.503G= (p.Arg168=) c.504G= (p.Glu168=) | |
| 3 | g.87260041C>G | CA353698275 | POU1F1 | c.807G>C (p.Glu269Asp) c.729G>C (p.Glu243Asp) c.503G>C (p.Arg168Thr) c.504G>C (p.Glu168Asp) | dbSNP gnomAD v4 |
| 3 | g.87260041C>T | CA353698276 | POU1F1 | c.807G>A (p.Glu269=) c.729G>A (p.Glu243=) c.503G>A (p.Arg168Lys) c.504G>A (p.Glu168=) | |
| 3 | g.87260042T>A | CA353698277 | POU1F1 | c.806A>T (p.Glu269Val) c.728A>T (p.Glu243Val) c.502A>T (p.Arg168Ter) c.503A>T (p.Glu168Val) | |
| 3 | g.87260042T>C | CA353698278 | POU1F1 | c.806A>G (p.Glu269Gly) c.728A>G (p.Glu243Gly) c.502A>G (p.Arg168Gly) c.503A>G (p.Glu168Gly) | gnomAD v4 |
| 3 | g.87260042T>G | CA353698279 | POU1F1 | c.806A>C (p.Glu269Ala) c.728A>C (p.Glu243Ala) c.502A>C (p.Arg168=) c.503A>C (p.Glu168Ala) | |
| 3 | g.87260043C>A | CA353698280 | POU1F1 | c.805G>T (p.Glu269Ter) c.727G>T (p.Glu243Ter) c.501G>T (p.Lys167Asn) c.502G>T (p.Glu168Ter) | COSMIC COSMIC |
| 3 | g.87260043C>G | CA353698281 | POU1F1 | c.805G>C (p.Glu269Gln) c.727G>C (p.Glu243Gln) c.501G>C (p.Lys167Asn) c.502G>C (p.Glu168Gln) | |
| 3 | g.87260043C>T | CA353698282 | POU1F1 | c.805G>A (p.Glu269Lys) c.727G>A (p.Glu243Lys) c.501G>A (p.Lys167=) c.502G>A (p.Glu168Lys) | |
| 3 | g.87260044T>A | CA353698285 | POU1F1 | c.804A>T (p.Gln268His) c.726A>T (p.Gln242His) c.500A>T (p.Lys167Met) c.501A>T (p.Gln167His) | |
| 3 | g.87260044T>C | CA353698283 | POU1F1 | c.804A>G (p.Gln268=) c.726A>G (p.Gln242=) c.500A>G (p.Lys167Arg) c.501A>G (p.Gln167=) | |
| 3 | g.87260044T>G | CA353698284 | POU1F1 | c.804A>C (p.Gln268His) c.726A>C (p.Gln242His) c.500A>C (p.Lys167Thr) c.501A>C (p.Gln167His) | gnomAD v4 |
| 3 | g.87260044_87260045del | CA2586972586 | POU1F1 | c.803_804del (p.Gln268ArgfsTer7) c.725_726del (p.Gln242ArgfsTer7) c.499_500del (p.Lys167GlufsTer?) c.500_501del (p.Gln167ArgfsTer7) | |
| 3 | g.87260045T>A | CA353698286 | POU1F1 | c.803A>T (p.Gln268Leu) c.725A>T (p.Gln242Leu) c.499A>T (p.Lys167Ter) c.500A>T (p.Gln167Leu) | |
| 3 | g.87260045T>C | CA353698287 | POU1F1 | c.803A>G (p.Gln268Arg) c.725A>G (p.Gln242Arg) c.499A>G (p.Lys167Glu) c.500A>G (p.Gln167Arg) | |
| 3 | g.87260045T>G | CA353698288 | POU1F1 | c.803A>C (p.Gln268Pro) c.725A>C (p.Gln242Pro) c.499A>C (p.Lys167Gln) c.500A>C (p.Gln167Pro) | |
| 3 | g.87260046G>A | CA353698289 | POU1F1 | c.802C>T (p.Gln268Ter) c.724C>T (p.Gln242Ter) c.498C>T (p.Leu166=) c.499C>T (p.Gln167Ter) | |
| 3 | g.87260046G>C | CA353698290 | POU1F1 | c.802C>G (p.Gln268Glu) c.724C>G (p.Gln242Glu) c.498C>G (p.Leu166=) c.499C>G (p.Gln167Glu) | COSMIC COSMIC |
| 3 | g.87260046G>T | CA353698291 | POU1F1 | c.802C>A (p.Gln268Lys) c.724C>A (p.Gln242Lys) c.498C>A (p.Leu166=) c.499C>A (p.Gln167Lys) | |
| 3 | g.87260046_87260049delinsGAGA | CA1381564100 | POU1F1 | c.799_802delinsTCTC (p.Ser267=) c.721_724delinsTCTC (p.Ser241=) c.495_498delinsTCTC (p.Leu165=) c.496_499delinsTCTC (p.Ser166=) | |
| 3 | g.87260047A>C | CA353698292 | POU1F1 | c.801T>G (p.Ser267=) c.723T>G (p.Ser241=) c.497T>G (p.Leu166Arg) c.498T>G (p.Ser166=) | ClinVar |
| 3 | g.87260047A>G | CA353698293 | POU1F1 | c.801T>C (p.Ser267=) c.723T>C (p.Ser241=) c.497T>C (p.Leu166Pro) c.498T>C (p.Ser166=) | |
| 3 | g.87260047A>T | CA353698294 | POU1F1 | c.801T>A (p.Ser267=) c.723T>A (p.Ser241=) c.497T>A (p.Leu166His) c.498T>A (p.Ser166=) | |
| 3 | g.87260052_87260054del | CA544801186 | POU1F1 | c.799_801del (p.Ser267del) c.721_723del (p.Ser241del) c.495_497del (p.Leu166del) c.496_498del (p.Ser166del) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.87260048G>A | CA353698295 | POU1F1 | c.800C>T (p.Ser267Phe) c.722C>T (p.Ser241Phe) c.496C>T (p.Leu166Phe) c.497C>T (p.Ser166Phe) | |
| 3 | g.87260048G>C | CA353698296 | POU1F1 | c.800C>G (p.Ser267Cys) c.722C>G (p.Ser241Cys) c.496C>G (p.Leu166Val) c.497C>G (p.Ser166Cys) | |
| 3 | g.87260048G>T | CA353698297 | POU1F1 | c.800C>A (p.Ser267Tyr) c.722C>A (p.Ser241Tyr) c.496C>A (p.Leu166Ile) c.497C>A (p.Ser166Tyr) | |
| 3 | g.87260049A>C | CA353698299 | POU1F1 | c.799T>G (p.Ser267Ala) c.721T>G (p.Ser241Ala) c.495T>G (p.Leu165=) c.496T>G (p.Ser166Ala) | |
| 3 | g.87260049A>G | CA353698300 | POU1F1 | c.799T>C (p.Ser267Pro) c.721T>C (p.Ser241Pro) c.495T>C (p.Leu165=) c.496T>C (p.Ser166Pro) | |
| 3 | g.87260049A>T | CA353698298 | POU1F1 | c.799T>A (p.Ser267Thr) c.721T>A (p.Ser241Thr) c.495T>A (p.Leu165=) c.496T>A (p.Ser166Thr) | |
| 3 | g.87260050A>C | CA353698301 | POU1F1 | c.798T>G (p.Ser266=) c.720T>G (p.Ser240=) c.494T>G (p.Leu165Arg) c.495T>G (p.Ser165=) | |
| 3 | g.87260050A>G | CA353698302 | POU1F1 | c.798T>C (p.Ser266=) c.720T>C (p.Ser240=) c.494T>C (p.Leu165Pro) c.495T>C (p.Ser165=) | |
| 3 | g.87260050A>T | CA353698303 | POU1F1 | c.798T>A (p.Ser266=) c.720T>A (p.Ser240=) c.494T>A (p.Leu165His) c.495T>A (p.Ser165=) | |
| 3 | g.87260051G>A | CA353698304 | POU1F1 | c.797C>T (p.Ser266Phe) c.719C>T (p.Ser240Phe) c.493C>T (p.Leu165Phe) c.494C>T (p.Ser165Phe) | |
| 3 | g.87260051G>C | CA353698305 | POU1F1 | c.797C>G (p.Ser266Cys) c.719C>G (p.Ser240Cys) c.493C>G (p.Leu165Val) c.494C>G (p.Ser165Cys) | |
| 3 | g.87260051G>T | CA353698306 | POU1F1 | c.797C>A (p.Ser266Tyr) c.719C>A (p.Ser240Tyr) c.493C>A (p.Leu165Ile) c.494C>A (p.Ser165Tyr) | |
| 3 | g.87260052A>C | CA353698309 | POU1F1 | c.796T>G (p.Ser266Ala) c.718T>G (p.Ser240Ala) c.492T>G (p.Leu164=) c.493T>G (p.Ser165Ala) | |
| 3 | g.87260052A>G | CA353698307 | POU1F1 | c.796T>C (p.Ser266Pro) c.718T>C (p.Ser240Pro) c.492T>C (p.Leu164=) c.493T>C (p.Ser165Pro) | |
| 3 | g.87260052A>T | CA353698308 | POU1F1 | c.796T>A (p.Ser266Thr) c.718T>A (p.Ser240Thr) c.492T>A (p.Leu164=) c.493T>A (p.Ser165Thr) | |
| 3 | g.87260053A>C | CA353698310 | POU1F1 | c.795T>G (p.Pro265=) c.717T>G (p.Pro239=) c.491T>G (p.Leu164Arg) c.492T>G (p.Pro164=) | |
| 3 | g.87260053A>G | CA353698311 | POU1F1 | c.795T>C (p.Pro265=) c.717T>C (p.Pro239=) c.491T>C (p.Leu164Pro) c.492T>C (p.Pro164=) | gnomAD v4 |
| 3 | g.87260053A>T | CA353698312 | POU1F1 | c.795T>A (p.Pro265=) c.717T>A (p.Pro239=) c.491T>A (p.Leu164His) c.492T>A (p.Pro164=) | |
| 3 | g.87260054G>A | CA353698313 | POU1F1 | c.794C>T (p.Pro265Leu) c.716C>T (p.Pro239Leu) c.490C>T (p.Leu164Phe) c.491C>T (p.Pro164Leu) | |
| 3 | g.87260054G>C | CA353698314 | POU1F1 | c.794C>G (p.Pro265Arg) c.716C>G (p.Pro239Arg) c.490C>G (p.Leu164Val) c.491C>G (p.Pro164Arg) | |
| 3 | g.87260054G>T | CA353698315 | POU1F1 | c.794C>A (p.Pro265His) c.716C>A (p.Pro239His) c.490C>A (p.Leu164Ile) c.491C>A (p.Pro164His) | gnomAD v4 |
| 3 | g.87260055G>A | CA250616 | POU1F1 | c.793C>T (p.Pro265Ser) c.715C>T (p.Pro239Ser) c.489C>T (p.Asn163=) c.490C>T (p.Pro164Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.87260055G>C | CA353698317 | POU1F1 | c.793C>G (p.Pro265Ala) c.715C>G (p.Pro239Ala) c.489C>G (p.Asn163Lys) c.490C>G (p.Pro164Ala) | |
| 3 | g.87260055G= | CA1381564106 | POU1F1 | c.793C= (p.Pro265=) c.715C= (p.Pro239=) c.489C= (p.Asn163=) c.490C= (p.Pro164=) | |
| 3 | g.87260055G>T | CA353698316 | POU1F1 | c.793C>A (p.Pro265Thr) c.715C>A (p.Pro239Thr) c.489C>A (p.Asn163Lys) c.490C>A (p.Pro164Thr) |