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 |
|---|---|---|---|---|---|
| 5 | g.146340130_146340131del | CA2580613685 | POU4F3 | c.703_704del (p.Thr235SerfsTer?) | ClinVar |
| 5 | g.146340131C>A | CA361621976 | POU4F3 | c.704C>A (p.Thr235Asn) | |
| 5 | g.146340131C>G | CA361621978 | POU4F3 | c.704C>G (p.Thr235Ser) | |
| 5 | g.146340131C>T | CA361621977 | POU4F3 | c.704C>T (p.Thr235Ile) | |
| 5 | g.146340136_146340137del | CA2695205586 | POU4F3 | c.709_710del (p.Ser237AlafsTer?) | |
| 5 | g.146340132del | CA2695205587 | POU4F3 | c.705del (p.Leu236SerfsTer6) | |
| 5 | g.146340132T>A | CA447097948 | POU4F3 | c.705T>A (p.Thr235=) | |
| 5 | g.146340132T>C | CA447097949 | POU4F3 | c.705T>C (p.Thr235=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340132T>G | CA447097951 | POU4F3 | c.705T>G (p.Thr235=) | |
| 5 | g.146340132T= | CA1589086793 | POU4F3 | c.705T= (p.Thr235=) | |
| 5 | g.146340133C>A | CA361621981 | POU4F3 | c.706C>A (p.Leu236Ile) | |
| 5 | g.146340133C>G | CA361621984 | POU4F3 | c.706C>G (p.Leu236Val) | |
| 5 | g.146340133C>T | CA361621986 | POU4F3 | c.706C>T (p.Leu236Phe) | |
| 5 | g.146340134T>A | CA361621988 | POU4F3 | c.707T>A (p.Leu236His) | |
| 5 | g.146340134T>C | CA361621991 | POU4F3 | c.707T>C (p.Leu236Pro) | |
| 5 | g.146340134T>G | CA361621992 | POU4F3 | c.707T>G (p.Leu236Arg) | |
| 5 | g.146340135C>A | CA447097956 | POU4F3 | c.708C>A (p.Leu236=) | |
| 5 | g.146340135C= | CA1589086794 | POU4F3 | c.708C= (p.Leu236=) | |
| 5 | g.146340135C>G | CA447097957 | POU4F3 | c.708C>G (p.Leu236=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340135C>T | CA447097958 | POU4F3 | c.708C>T (p.Leu236=) | dbSNP gnomAD v4 |
| 5 | g.146340136T>A | CA361621996 | POU4F3 | c.709T>A (p.Ser237Thr) | |
| 5 | g.146340136T>C | CA361621997 | POU4F3 | c.709T>C (p.Ser237Pro) | gnomAD v4 |
| 5 | g.146340136T>G | CA10576654 | POU4F3 | c.709T>G (p.Ser237Ala) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340136T= | CA1589086795 | POU4F3 | c.709T= (p.Ser237=) | |
| 5 | g.146340137C>A | CA361622000 | POU4F3 | c.710C>A (p.Ser237Ter) | |
| 5 | g.146340137C= | CA1589086796 | POU4F3 | c.710C= (p.Ser237=) | |
| 5 | g.146340137C>G | CA361622001 | POU4F3 | c.710C>G (p.Ser237Trp) | |
| 5 | g.146340137C>T | CA361622003 | POU4F3 | c.710C>T (p.Ser237Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340138G>A | CA447097963 | POU4F3 | c.711G>A (p.Ser237=) | |
| 5 | g.146340138G>C | CA447097960 | POU4F3 | c.711G>C (p.Ser237=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340138G= | CA1589086797 | POU4F3 | c.711G= (p.Ser237=) | |
| 5 | g.146340138G>T | CA447097961 | POU4F3 | c.711G>T (p.Ser237=) | gnomAD v4 |
| 5 | g.146340139C>A | CA361622009 | POU4F3 | c.712C>A (p.His238Asn) | |
| 5 | g.146340139C>G | CA361622005 | POU4F3 | c.712C>G (p.His238Asp) | |
| 5 | g.146340139C>T | CA361622007 | POU4F3 | c.712C>T (p.His238Tyr) | gnomAD v4 |
| 5 | g.146340140A= | CA1589086798 | POU4F3 | c.713A= (p.His238=) | |
| 5 | g.146340140A>C | CA361622011 | POU4F3 | c.713A>C (p.His238Pro) | |
| 5 | g.146340140A>G | CA3491184 | POU4F3 | c.713A>G (p.His238Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340140A>T | CA361622017 | POU4F3 | c.713A>T (p.His238Leu) | |
| 5 | g.146340146_146340148del | CA2578641132 | POU4F3 | c.719_721del (p.Asn240del) | |
| 5 | g.146340141C>A | CA361622019 | POU4F3 | c.714C>A (p.His238Gln) | |
| 5 | g.146340141C>G | CA361622020 | POU4F3 | c.714C>G (p.His238Gln) | |
| 5 | g.146340141C>T | CA447097965 | POU4F3 | c.714C>T (p.His238=) | |
| 5 | g.146340142A>C | CA361622022 | POU4F3 | c.715A>C (p.Asn239His) | |
| 5 | g.146340142A>G | CA361622024 | POU4F3 | c.715A>G (p.Asn239Asp) | gnomAD v4 |
| 5 | g.146340142A>T | CA361622026 | POU4F3 | c.715A>T (p.Asn239Tyr) | |
| 5 | g.146340143A>C | CA361622027 | POU4F3 | c.716A>C (p.Asn239Thr) | |
| 5 | g.146340143A>G | CA361622028 | POU4F3 | c.716A>G (p.Asn239Ser) | ClinVar |
| 5 | g.146340143A>T | CA361622029 | POU4F3 | c.716A>T (p.Asn239Ile) | |
| 5 | g.146340144C>A | CA361622033 | POU4F3 | c.717C>A (p.Asn239Lys) | |
| 5 | g.146340144C>G | CA361622032 | POU4F3 | c.717C>G (p.Asn239Lys) | |
| 5 | g.146340144C>T | CA447097971 | POU4F3 | c.717C>T (p.Asn239=) | |
| 5 | g.146340145A>C | CA361622035 | POU4F3 | c.718A>C (p.Asn240His) | |
| 5 | g.146340145A>G | CA361622036 | POU4F3 | c.718A>G (p.Asn240Asp) | |
| 5 | g.146340145A>T | CA361622038 | POU4F3 | c.718A>T (p.Asn240Tyr) | |
| 5 | g.146340146A>C | CA361622039 | POU4F3 | c.719A>C (p.Asn240Thr) | |
| 5 | g.146340146A>G | CA361622040 | POU4F3 | c.719A>G (p.Asn240Ser) | |
| 5 | g.146340146A>T | CA361622041 | POU4F3 | c.719A>T (p.Asn240Ile) | |
| 5 | g.146340147C>A | CA361622044 | POU4F3 | c.720C>A (p.Asn240Lys) | |
| 5 | g.146340147C= | CA1589086799 | POU4F3 | c.720C= (p.Asn240=) | |
| 5 | g.146340147C>G | CA361622043 | POU4F3 | c.720C>G (p.Asn240Lys) | |
| 5 | g.146340147C>T | CA447097976 | POU4F3 | c.720C>T (p.Asn240=) | ClinVar dbSNP |
| 5 | g.146340148A>C | CA361622045 | POU4F3 | c.721A>C (p.Met241Leu) | |
| 5 | g.146340148A>G | CA361622046 | POU4F3 | c.721A>G (p.Met241Val) | |
| 5 | g.146340148A>T | CA361622047 | POU4F3 | c.721A>T (p.Met241Leu) | |
| 5 | g.146340149T>A | CA361622048 | POU4F3 | c.722T>A (p.Met241Lys) | |
| 5 | g.146340149T>C | CA361622050 | POU4F3 | c.722T>C (p.Met241Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340149T>G | CA361622052 | POU4F3 | c.722T>G (p.Met241Arg) | |
| 5 | g.146340149T= | CA1589086800 | POU4F3 | c.722T= (p.Met241=) | |
| 5 | g.146340150G>A | CA3491185 | POU4F3 | c.723G>A (p.Met241Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340150G>C | CA361622056 | POU4F3 | c.723G>C (p.Met241Ile) | |
| 5 | g.146340150G= | CA1589086801 | POU4F3 | c.723G= (p.Met241=) | |
| 5 | g.146340150G>T | CA361622055 | POU4F3 | c.723G>T (p.Met241Ile) | |
| 5 | g.146340151A= | CA1589086802 | POU4F3 | c.724A= (p.Ile242=) | |
| 5 | g.146340151A>C | CA361622058 | POU4F3 | c.724A>C (p.Ile242Leu) | |
| 5 | g.146340151A>G | CA361622059 | POU4F3 | c.724A>G (p.Ile242Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340151A>T | CA361622062 | POU4F3 | c.724A>T (p.Ile242Phe) | |
| 5 | g.146340152T>A | CA361622063 | POU4F3 | c.725T>A (p.Ile242Asn) | |
| 5 | g.146340152T>C | CA361622064 | POU4F3 | c.725T>C (p.Ile242Thr) | |
| 5 | g.146340152T>G | CA361622065 | POU4F3 | c.725T>G (p.Ile242Ser) | |
| 5 | g.146340153C>A | CA128861134 | POU4F3 | c.726C>A (p.Ile242=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340153C= | CA1589086803 | POU4F3 | c.726C= (p.Ile242=) | |
| 5 | g.146340153C>G | CA361622068 | POU4F3 | c.726C>G (p.Ile242Met) | gnomAD v4 |
| 5 | g.146340153C>T | CA447097985 | POU4F3 | c.726C>T (p.Ile242=) | gnomAD v4 |
| 5 | g.146340154G>A | CA361622070 | POU4F3 | c.727G>A (p.Ala243Thr) | gnomAD v4 |
| 5 | g.146340154G>C | CA361622071 | POU4F3 | c.727G>C (p.Ala243Pro) | |
| 5 | g.146340154G= | CA1589086804 | POU4F3 | c.727G= (p.Ala243=) | |
| 5 | g.146340154G>T | CA361622072 | POU4F3 | c.727G>T (p.Ala243Ser) | dbSNP gnomAD v4 |
| 5 | g.146340155C>A | CA361622075 | POU4F3 | c.728C>A (p.Ala243Asp) | |
| 5 | g.146340155C= | CA1589086805 | POU4F3 | c.728C= (p.Ala243=) | |
| 5 | g.146340155C>G | CA361622073 | POU4F3 | c.728C>G (p.Ala243Gly) | gnomAD v4 |
| 5 | g.146340155C>T | CA128861137 | POU4F3 | c.728C>T (p.Ala243Val) | dbSNP gnomAD v4 |
| 5 | g.146340156T>A | CA447097986 | POU4F3 | c.729T>A (p.Ala243=) | |
| 5 | g.146340156T>C | CA447097988 | POU4F3 | c.729T>C (p.Ala243=) | dbSNP |
| 5 | g.146340156T>G | CA447097989 | POU4F3 | c.729T>G (p.Ala243=) | |
| 5 | g.146340156T= | CA1589086806 | POU4F3 | c.729T= (p.Ala243=) | |
| 5 | g.146340157C>A | CA361622078 | POU4F3 | c.730C>A (p.Leu244Ile) | |
| 5 | g.146340157C>G | CA361622080 | POU4F3 | c.730C>G (p.Leu244Val) | ClinVar dbSNP |
| 5 | g.146340157C>T | CA361622079 | POU4F3 | c.730C>T (p.Leu244Phe) | |
| 5 | g.146340158T>A | CA361622081 | POU4F3 | c.731T>A (p.Leu244His) | |
| 5 | g.146340158T>C | CA361622082 | POU4F3 | c.731T>C (p.Leu244Pro) | |
| 5 | g.146340158T>G | CA361622084 | POU4F3 | c.731T>G (p.Leu244Arg) | ClinVar |
| 5 | g.146340159C>A | CA447097994 | POU4F3 | c.732C>A (p.Leu244=) | |
| 5 | g.146340159C= | CA1589086807 | POU4F3 | c.732C= (p.Leu244=) | |
| 5 | g.146340159C>G | CA3491186 | POU4F3 | c.732C>G (p.Leu244=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340159C>T | CA447097993 | POU4F3 | c.732C>T (p.Leu244=) | |
| 5 | g.146340160A= | CA1589086808 | POU4F3 | c.733A= (p.Lys245=) | |
| 5 | g.146340160A>C | CA361622087 | POU4F3 | c.733A>C (p.Lys245Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340160A>G | CA361622088 | POU4F3 | c.733A>G (p.Lys245Glu) | |
| 5 | g.146340160A>T | CA361622089 | POU4F3 | c.733A>T (p.Lys245Ter) | |
| 5 | g.146340161A>C | CA361622090 | POU4F3 | c.734A>C (p.Lys245Thr) | |
| 5 | g.146340161A>G | CA361622091 | POU4F3 | c.734A>G (p.Lys245Arg) | |
| 5 | g.146340161A>T | CA361622092 | POU4F3 | c.734A>T (p.Lys245Met) | |
| 5 | g.146340162G>A | CA447097996 | POU4F3 | c.735G>A (p.Lys245=) | |
| 5 | g.146340162G>C | CA361622093 | POU4F3 | c.735G>C (p.Lys245Asn) | |
| 5 | g.146340162G>T | CA361622094 | POU4F3 | c.735G>T (p.Lys245Asn) | |
| 5 | g.146340163C>A | CA361622099 | POU4F3 | c.736C>A (p.Pro246Thr) | dbSNP |
| 5 | g.146340163C>G | CA361622096 | POU4F3 | c.736C>G (p.Pro246Ala) | |
| 5 | g.146340163C>T | CA361622098 | POU4F3 | c.736C>T (p.Pro246Ser) | gnomAD v4 |
| 5 | g.146340164C>A | CA361622100 | POU4F3 | c.737C>A (p.Pro246Gln) | |
| 5 | g.146340164C= | CA1589086809 | POU4F3 | c.737C= (p.Pro246=) | |
| 5 | g.146340164C>G | CA361622102 | POU4F3 | c.737C>G (p.Pro246Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340164C>T | CA361622104 | POU4F3 | c.737C>T (p.Pro246Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340165G>A | CA447097998 | POU4F3 | c.738G>A (p.Pro246=) | dbSNP gnomAD v4 COSMIC |
| 5 | g.146340165G>C | CA447097999 | POU4F3 | c.738G>C (p.Pro246=) | |
| 5 | g.146340165G= | CA1589086810 | POU4F3 | c.738G= (p.Pro246=) | |
| 5 | g.146340165G>T | CA128861147 | POU4F3 | c.738G>T (p.Pro246=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340166G>A | CA361622108 | POU4F3 | c.739G>A (p.Val247Met) | |
| 5 | g.146340166G>C | CA361622110 | POU4F3 | c.739G>C (p.Val247Leu) | |
| 5 | g.146340166G>T | CA361622111 | POU4F3 | c.739G>T (p.Val247Leu) | |
| 5 | g.146340167T>A | CA361622113 | POU4F3 | c.740T>A (p.Val247Glu) | gnomAD v4 |
| 5 | g.146340167T>C | CA361622114 | POU4F3 | c.740T>C (p.Val247Ala) | |
| 5 | g.146340167T>G | CA361622115 | POU4F3 | c.740T>G (p.Val247Gly) | |
| 5 | g.146340168G>A | CA447098004 | POU4F3 | c.741G>A (p.Val247=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340168G>C | CA3491187 | POU4F3 | c.741G>C (p.Val247=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340168G= | CA1589086811 | POU4F3 | c.741G= (p.Val247=) | |
| 5 | g.146340168G>T | CA447098005 | POU4F3 | c.741G>T (p.Val247=) | gnomAD v4 |
| 5 | g.146340169C>A | CA361622122 | POU4F3 | c.742C>A (p.Leu248Ile) | |
| 5 | g.146340169C= | CA1589086812 | POU4F3 | c.742C= (p.Leu248=) | |
| 5 | g.146340169C>G | CA361622121 | POU4F3 | c.742C>G (p.Leu248Val) | |
| 5 | g.146340169C>T | CA3491188 | POU4F3 | c.742C>T (p.Leu248Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340170T>A | CA361622125 | POU4F3 | c.743T>A (p.Leu248His) | |
| 5 | g.146340170T>C | CA361622126 | POU4F3 | c.743T>C (p.Leu248Pro) | ClinVar |
| 5 | g.146340170T>G | CA361622127 | POU4F3 | c.743T>G (p.Leu248Arg) | |
| 5 | g.146340171C>A | CA447098007 | POU4F3 | c.744C>A (p.Leu248=) | |
| 5 | g.146340171C>G | CA447098008 | POU4F3 | c.744C>G (p.Leu248=) | |
| 5 | g.146340171C>T | CA447098009 | POU4F3 | c.744C>T (p.Leu248=) | |
| 5 | g.146340172C>A | CA361622128 | POU4F3 | c.745C>A (p.Gln249Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340172C= | CA1589086813 | POU4F3 | c.745C= (p.Gln249=) | |
| 5 | g.146340172C>G | CA361622129 | POU4F3 | c.745C>G (p.Gln249Glu) | |
| 5 | g.146340172C>T | CA361622131 | POU4F3 | c.745C>T (p.Gln249Ter) | |
| 5 | g.146340173A>C | CA361622137 | POU4F3 | c.746A>C (p.Gln249Pro) | ClinVar dbSNP |
| 5 | g.146340173A>G | CA361622134 | POU4F3 | c.746A>G (p.Gln249Arg) | |
| 5 | g.146340173A>T | CA361622136 | POU4F3 | c.746A>T (p.Gln249Leu) | |
| 5 | g.146340174G>A | CA447098012 | POU4F3 | c.747G>A (p.Gln249=) | |
| 5 | g.146340174G>C | CA361622138 | POU4F3 | c.747G>C (p.Gln249His) | |
| 5 | g.146340174G>T | CA361622140 | POU4F3 | c.747G>T (p.Gln249His) | |
| 5 | g.146340175G>A | CA361622142 | POU4F3 | c.748G>A (p.Ala250Thr) | gnomAD v4 COSMIC |
| 5 | g.146340175G>C | CA361622144 | POU4F3 | c.748G>C (p.Ala250Pro) | |
| 5 | g.146340175G>T | CA361622146 | POU4F3 | c.748G>T (p.Ala250Ser) | |
| 5 | g.146340176C>A | CA361622148 | POU4F3 | c.749C>A (p.Ala250Asp) | gnomAD v4 |
| 5 | g.146340176C= | CA1589086814 | POU4F3 | c.749C= (p.Ala250=) | |
| 5 | g.146340176C>G | CA361622152 | POU4F3 | c.749C>G (p.Ala250Gly) | |
| 5 | g.146340176C>T | CA3491189 | POU4F3 | c.749C>T (p.Ala250Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340177C>A | CA447098015 | POU4F3 | c.750C>A (p.Ala250=) | |
| 5 | g.146340177C>G | CA447098016 | POU4F3 | c.750C>G (p.Ala250=) | |
| 5 | g.146340177C>T | CA447098018 | POU4F3 | c.750C>T (p.Ala250=) | |
| 5 | g.146340178T>A | CA361622154 | POU4F3 | c.751T>A (p.Trp251Arg) | |
| 5 | g.146340178T>C | CA361622155 | POU4F3 | c.751T>C (p.Trp251Arg) | |
| 5 | g.146340178T>G | CA361622157 | POU4F3 | c.751T>G (p.Trp251Gly) | |
| 5 | g.146340179G>A | CA361622158 | POU4F3 | c.752G>A (p.Trp251Ter) | |
| 5 | g.146340179G>C | CA361622160 | POU4F3 | c.752G>C (p.Trp251Ser) | |
| 5 | g.146340179G>T | CA361622162 | POU4F3 | c.752G>T (p.Trp251Leu) | |
| 5 | g.146340180G>A | CA361622165 | POU4F3 | c.753G>A (p.Trp251Ter) | |
| 5 | g.146340180G>C | CA361622168 | POU4F3 | c.753G>C (p.Trp251Cys) | |
| 5 | g.146340180G>T | CA361622170 | POU4F3 | c.753G>T (p.Trp251Cys) | |
| 5 | g.146340181T>A | CA361622173 | POU4F3 | c.754T>A (p.Leu252Met) | |
| 5 | g.146340181T>C | CA447098021 | POU4F3 | c.754T>C (p.Leu252=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340181T>G | CA361622176 | POU4F3 | c.754T>G (p.Leu252Val) | |
| 5 | g.146340181T= | CA1589086815 | POU4F3 | c.754T= (p.Leu252=) | |
| 5 | g.146340182T>A | CA361622179 | POU4F3 | c.755T>A (p.Leu252Ter) | |
| 5 | g.146340182T>C | CA361622184 | POU4F3 | c.755T>C (p.Leu252Ser) | |
| 5 | g.146340182T>G | CA361622181 | POU4F3 | c.755T>G (p.Leu252Trp) | |
| 5 | g.146340183G>A | CA3491190 | POU4F3 | c.756G>A (p.Leu252=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340183G>C | CA361622189 | POU4F3 | c.756G>C (p.Leu252Phe) | |
| 5 | g.146340183G= | CA1589086816 | POU4F3 | c.756G= (p.Leu252=) | |
| 5 | g.146340183G>T | CA361622187 | POU4F3 | c.756G>T (p.Leu252Phe) | |
| 5 | g.146340184G>A | CA361622192 | POU4F3 | c.757G>A (p.Glu253Lys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340184G>C | CA361622194 | POU4F3 | c.757G>C (p.Glu253Gln) | gnomAD v4 |
| 5 | g.146340184G= | CA1589086817 | POU4F3 | c.757G= (p.Glu253=) | |
| 5 | g.146340184G>T | CA361622195 | POU4F3 | c.757G>T (p.Glu253Ter) | |
| 5 | g.146340185A>C | CA361622198 | POU4F3 | c.758A>C (p.Glu253Ala) | |
| 5 | g.146340185A>G | CA361622200 | POU4F3 | c.758A>G (p.Glu253Gly) | |
| 5 | g.146340185A>T | CA361622201 | POU4F3 | c.758A>T (p.Glu253Val) | |
| 5 | g.146340186G>A | CA447098025 | POU4F3 | c.759G>A (p.Glu253=) | |
| 5 | g.146340186G>C | CA361622204 | POU4F3 | c.759G>C (p.Glu253Asp) | |
| 5 | g.146340186G>T | CA361622207 | POU4F3 | c.759G>T (p.Glu253Asp) | |
| 5 | g.146340187G>A | CA3491191 | POU4F3 | c.760G>A (p.Glu254Lys) | dbSNP ExAC gnomAD v2 |
| 5 | g.146340187G>C | CA361622210 | POU4F3 | c.760G>C (p.Glu254Gln) | COSMIC |
| 5 | g.146340187G= | CA1589086818 | POU4F3 | c.760G= (p.Glu254=) | |
| 5 | g.146340187G>T | CA361622212 | POU4F3 | c.760G>T (p.Glu254Ter) | |
| 5 | g.146340188A= | CA1589086819 | POU4F3 | c.761A= (p.Glu254=) | |
| 5 | g.146340188A>C | CA361622215 | POU4F3 | c.761A>C (p.Glu254Ala) | |
| 5 | g.146340188A>G | CA361622219 | POU4F3 | c.761A>G (p.Glu254Gly) | |
| 5 | g.146340188A>T | CA361622221 | POU4F3 | c.761A>T (p.Glu254Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340189G>A | CA447098028 | POU4F3 | c.762G>A (p.Glu254=) | dbSNP |
| 5 | g.146340189G>C | CA361622224 | POU4F3 | c.762G>C (p.Glu254Asp) | |
| 5 | g.146340189G= | CA1589086820 | POU4F3 | c.762G= (p.Glu254=) | |
| 5 | g.146340189G>T | CA128861198 | POU4F3 | c.762G>T (p.Glu254Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340190G>A | CA361622228 | POU4F3 | c.763G>A (p.Ala255Thr) | |
| 5 | g.146340190G>C | CA361622229 | POU4F3 | c.763G>C (p.Ala255Pro) | |
| 5 | g.146340190G>T | CA361622233 | POU4F3 | c.763G>T (p.Ala255Ser) | |
| 5 | g.146340191C>A | CA361622235 | POU4F3 | c.764C>A (p.Ala255Asp) | |
| 5 | g.146340191C= | CA1589086821 | POU4F3 | c.764C= (p.Ala255=) | |
| 5 | g.146340191C>G | CA361622237 | POU4F3 | c.764C>G (p.Ala255Gly) | |
| 5 | g.146340191C>T | CA361622239 | POU4F3 | c.764C>T (p.Ala255Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340192C>A | CA447098033 | POU4F3 | c.765C>A (p.Ala255=) | |
| 5 | g.146340192C= | CA1589086822 | POU4F3 | c.765C= (p.Ala255=) | |
| 5 | g.146340192C>G | CA447098035 | POU4F3 | c.765C>G (p.Ala255=) | dbSNP |
| 5 | g.146340192C>T | CA447098034 | POU4F3 | c.765C>T (p.Ala255=) | gnomAD v4 |
| 5 | g.146340193G>A | CA128861202 | POU4F3 | c.766G>A (p.Glu256Lys) | dbSNP |
| 5 | g.146340193G>C | CA361622243 | POU4F3 | c.766G>C (p.Glu256Gln) | |
| 5 | g.146340193G= | CA1589086823 | POU4F3 | c.766G= (p.Glu256=) | |
| 5 | g.146340193G>T | CA128861212 | POU4F3 | c.766G>T (p.Glu256Ter) | dbSNP |
| 5 | g.146340194A>C | CA361622252 | POU4F3 | c.767A>C (p.Glu256Ala) | |
| 5 | g.146340194A>G | CA361622254 | POU4F3 | c.767A>G (p.Glu256Gly) | |
| 5 | g.146340194A>T | CA361622255 | POU4F3 | c.767A>T (p.Glu256Val) | |
| 5 | g.146340195G>A | CA447098039 | POU4F3 | c.768G>A (p.Glu256=) | |
| 5 | g.146340195G>C | CA361622260 | POU4F3 | c.768G>C (p.Glu256Asp) | |
| 5 | g.146340195G>T | CA361622257 | POU4F3 | c.768G>T (p.Glu256Asp) | |
| 5 | g.146340196G>A | CA3491192 | POU4F3 | c.769G>A (p.Ala257Thr) | dbSNP ExAC gnomAD v2 |
| 5 | g.146340196G>C | CA361622265 | POU4F3 | c.769G>C (p.Ala257Pro) | |
| 5 | g.146340196G= | CA1589086824 | POU4F3 | c.769G= (p.Ala257=) | |
| 5 | g.146340196G>T | CA361622266 | POU4F3 | c.769G>T (p.Ala257Ser) | |
| 5 | g.146340197C>A | CA361622269 | POU4F3 | c.770C>A (p.Ala257Asp) | |
| 5 | g.146340197C= | CA1589086825 | POU4F3 | c.770C= (p.Ala257=) | |
| 5 | g.146340197C>G | CA3491193 | POU4F3 | c.770C>G (p.Ala257Gly) | dbSNP ExAC |
| 5 | g.146340197C>T | CA361622274 | POU4F3 | c.770C>T (p.Ala257Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340198C>A | CA447098042 | POU4F3 | c.771C>A (p.Ala257=) | |
| 5 | g.146340198C>G | CA447098043 | POU4F3 | c.771C>G (p.Ala257=) | gnomAD v4 |
| 5 | g.146340198C>T | CA447098044 | POU4F3 | c.771C>T (p.Ala257=) | |
| 5 | g.146340199G>A | CA128861235 | POU4F3 | c.772G>A (p.Ala258Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340199G>C | CA361622279 | POU4F3 | c.772G>C (p.Ala258Pro) | |
| 5 | g.146340199G= | CA1589086826 | POU4F3 | c.772G= (p.Ala258=) | |
| 5 | g.146340199G>T | CA361622277 | POU4F3 | c.772G>T (p.Ala258Ser) | |
| 5 | g.146340200C>A | CA361622283 | POU4F3 | c.773C>A (p.Ala258Asp) | dbSNP |
| 5 | g.146340200C= | CA1589086827 | POU4F3 | c.773C= (p.Ala258=) | |
| 5 | g.146340200C>G | CA361622286 | POU4F3 | c.773C>G (p.Ala258Gly) | |
| 5 | g.146340200C>T | CA361622289 | POU4F3 | c.773C>T (p.Ala258Val) | |
| 5 | g.146340201C>A | CA447098047 | POU4F3 | c.774C>A (p.Ala258=) | |
| 5 | g.146340201C>G | CA447098049 | POU4F3 | c.774C>G (p.Ala258=) | |
| 5 | g.146340201C>T | CA447098052 | POU4F3 | c.774C>T (p.Ala258=) | |
| 5 | g.146340202T>A | CA361622292 | POU4F3 | c.775T>A (p.Tyr259Asn) | |
| 5 | g.146340202T>C | CA361622294 | POU4F3 | c.775T>C (p.Tyr259His) | gnomAD v4 COSMIC |
| 5 | g.146340202T>G | CA361622297 | POU4F3 | c.775T>G (p.Tyr259Asp) | |
| 5 | g.146340203A>C | CA361622300 | POU4F3 | c.776A>C (p.Tyr259Ser) | |
| 5 | g.146340203A>G | CA361622304 | POU4F3 | c.776A>G (p.Tyr259Cys) | gnomAD v4 |
| 5 | g.146340203A>T | CA361622301 | POU4F3 | c.776A>T (p.Tyr259Phe) | |
| 5 | g.146340204C>A | CA361622308 | POU4F3 | c.777C>A (p.Tyr259Ter) | |
| 5 | g.146340204C>G | CA361622310 | POU4F3 | c.777C>G (p.Tyr259Ter) | |
| 5 | g.146340204C>T | CA447098056 | POU4F3 | c.777C>T (p.Tyr259=) | |
| 5 | g.146340205C>A | CA3491194 | POU4F3 | c.778C>A (p.Arg260=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340205C= | CA1589086828 | POU4F3 | c.778C= (p.Arg260=) | |
| 5 | g.146340205C>G | CA361622312 | POU4F3 | c.778C>G (p.Arg260Gly) | |
| 5 | g.146340205C>T | CA361622314 | POU4F3 | c.778C>T (p.Arg260Ter) | |
| 5 | g.146340206G>A | CA3491196 | POU4F3 | c.779G>A (p.Arg260Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340206G>C | CA361622319 | POU4F3 | c.779G>C (p.Arg260Pro) | |
| 5 | g.146340206G= | CA1589086829 | POU4F3 | c.779G= (p.Arg260=) | |
| 5 | g.146340206G>T | CA3491195 | POU4F3 | c.779G>T (p.Arg260Leu) | dbSNP ExAC gnomAD v2 |
| 5 | g.146340207A>C | CA447098059 | POU4F3 | c.780A>C (p.Arg260=) | |
| 5 | g.146340207A>G | CA447098063 | POU4F3 | c.780A>G (p.Arg260=) | |
| 5 | g.146340207A>T | CA447098061 | POU4F3 | c.780A>T (p.Arg260=) | |
| 5 | g.146340208G>A | CA3491197 | POU4F3 | c.781G>A (p.Glu261Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340208G>C | CA361622323 | POU4F3 | c.781G>C (p.Glu261Gln) | |
| 5 | g.146340208G= | CA1589086831 | POU4F3 | c.781G= (p.Glu261=) | |
| 5 | g.146340208G>T | CA361622326 | POU4F3 | c.781G>T (p.Glu261Ter) | |
| 5 | g.146340208_146340211delinsGAGA | CA1589086830 | POU4F3 | c.781_784delinsGAGA (p.Glu261=) | |
| 5 | g.146340209A>C | CA361622339 | POU4F3 | c.782A>C (p.Glu261Ala) | |
| 5 | g.146340209A>G | CA361622331 | POU4F3 | c.782A>G (p.Glu261Gly) | |
| 5 | g.146340209A>T | CA361622337 | POU4F3 | c.782A>T (p.Glu261Val) | |
| 5 | g.146340213_146340215del | CA3491198 | POU4F3 | c.786_788del (p.Lys262del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340210G>A | CA3491199 | POU4F3 | c.783G>A (p.Glu261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340210G>C | CA128861284 | POU4F3 | c.783G>C (p.Glu261Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340210G= | CA1589086832 | POU4F3 | c.783G= (p.Glu261=) | |
| 5 | g.146340210G>T | CA361622344 | POU4F3 | c.783G>T (p.Glu261Asp) | |
| 5 | g.146340211A>C | CA361622347 | POU4F3 | c.784A>C (p.Lys262Gln) | |
| 5 | g.146340211A>G | CA361622349 | POU4F3 | c.784A>G (p.Lys262Glu) | |
| 5 | g.146340211A>T | CA361622352 | POU4F3 | c.784A>T (p.Lys262Ter) | |
| 5 | g.146340212A= | CA1589086833 | POU4F3 | c.785A= (p.Lys262=) | |
| 5 | g.146340212A>C | CA3491200 | POU4F3 | c.785A>C (p.Lys262Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340212A>G | CA361622358 | POU4F3 | c.785A>G (p.Lys262Arg) | |
| 5 | g.146340212A>T | CA361622359 | POU4F3 | c.785A>T (p.Lys262Met) | |
| 5 | g.146340213G>A | CA447098070 | POU4F3 | c.786G>A (p.Lys262=) | |
| 5 | g.146340213G>C | CA361622362 | POU4F3 | c.786G>C (p.Lys262Asn) | |
| 5 | g.146340213G>T | CA361622364 | POU4F3 | c.786G>T (p.Lys262Asn) | |
| 5 | g.146340214A>C | CA361622365 | POU4F3 | c.787A>C (p.Asn263His) | |
| 5 | g.146340214A>G | CA361622366 | POU4F3 | c.787A>G (p.Asn263Asp) | |
| 5 | g.146340214A>T | CA361622369 | POU4F3 | c.787A>T (p.Asn263Tyr) | |
| 5 | g.146340215A>C | CA361622377 | POU4F3 | c.788A>C (p.Asn263Thr) | |
| 5 | g.146340215A>G | CA361622372 | POU4F3 | c.788A>G (p.Asn263Ser) | |
| 5 | g.146340215A>T | CA361622375 | POU4F3 | c.788A>T (p.Asn263Ile) | |
| 5 | g.146340216C>A | CA361622380 | POU4F3 | c.789C>A (p.Asn263Lys) | |
| 5 | g.146340216C= | CA1589086834 | POU4F3 | c.789C= (p.Asn263=) | |
| 5 | g.146340216C>G | CA361622382 | POU4F3 | c.789C>G (p.Asn263Lys) | |
| 5 | g.146340216C>T | CA447098074 | POU4F3 | c.789C>T (p.Asn263=) | dbSNP gnomAD v4 |
| 5 | g.146340217A>C | CA361622386 | POU4F3 | c.790A>C (p.Ser264Arg) | |
| 5 | g.146340217A>G | CA361622387 | POU4F3 | c.790A>G (p.Ser264Gly) | |
| 5 | g.146340217A>T | CA361622390 | POU4F3 | c.790A>T (p.Ser264Cys) | |
| 5 | g.146340218G>A | CA3491201 | POU4F3 | c.791G>A (p.Ser264Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340218G>C | CA361622393 | POU4F3 | c.791G>C (p.Ser264Thr) | |
| 5 | g.146340218G= | CA1589086835 | POU4F3 | c.791G= (p.Ser264=) | |
| 5 | g.146340218G>T | CA361622395 | POU4F3 | c.791G>T (p.Ser264Ile) | |
| 5 | g.146340219C>A | CA3491203 | POU4F3 | c.792C>A (p.Ser264Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340219C= | CA1589086836 | POU4F3 | c.792C= (p.Ser264=) | |
| 5 | g.146340219C>G | CA361622401 | POU4F3 | c.792C>G (p.Ser264Arg) | |
| 5 | g.146340219C>T | CA3491202 | POU4F3 | c.792C>T (p.Ser264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340220A= | CA1589086837 | POU4F3 | c.793A= (p.Lys265=) | |
| 5 | g.146340220A>C | CA361622410 | POU4F3 | c.793A>C (p.Lys265Gln) | |
| 5 | g.146340220A>G | CA361622407 | POU4F3 | c.793A>G (p.Lys265Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340220A>T | CA361622405 | POU4F3 | c.793A>T (p.Lys265Ter) | |
| 5 | g.146340221A>C | CA361622413 | POU4F3 | c.794A>C (p.Lys265Thr) | |
| 5 | g.146340221A>G | CA361622415 | POU4F3 | c.794A>G (p.Lys265Arg) | |
| 5 | g.146340221A>T | CA361622417 | POU4F3 | c.794A>T (p.Lys265Met) | |
| 5 | g.146340222G>A | CA447098087 | POU4F3 | c.795G>A (p.Lys265=) | |
| 5 | g.146340222G>C | CA361622420 | POU4F3 | c.795G>C (p.Lys265Asn) | gnomAD v4 |
| 5 | g.146340222G>T | CA361622422 | POU4F3 | c.795G>T (p.Lys265Asn) | |
| 5 | g.146340223C>A | CA361622425 | POU4F3 | c.796C>A (p.Pro266Thr) | |
| 5 | g.146340223C= | CA1589086838 | POU4F3 | c.796C= (p.Pro266=) | |
| 5 | g.146340223C>G | CA361622428 | POU4F3 | c.796C>G (p.Pro266Ala) | |
| 5 | g.146340223C>T | CA361622430 | POU4F3 | c.796C>T (p.Pro266Ser) | dbSNP gnomAD v4 |
| 5 | g.146340224C>A | CA361622434 | POU4F3 | c.797C>A (p.Pro266Gln) | dbSNP gnomAD v2 |
| 5 | g.146340224C= | CA1589086839 | POU4F3 | c.797C= (p.Pro266=) | |
| 5 | g.146340224C>G | CA361622437 | POU4F3 | c.797C>G (p.Pro266Arg) | |
| 5 | g.146340224C>T | CA361622439 | POU4F3 | c.797C>T (p.Pro266Leu) | |
| 5 | g.146340225A= | CA1589086840 | POU4F3 | c.798A= (p.Pro266=) | |
| 5 | g.146340225A>C | CA447098093 | POU4F3 | c.798A>C (p.Pro266=) | |
| 5 | g.146340225A>G | CA3491204 | POU4F3 | c.798A>G (p.Pro266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340225A>T | CA447098095 | POU4F3 | c.798A>T (p.Pro266=) | |
| 5 | g.146340226G>A | CA361622447 | POU4F3 | c.799G>A (p.Glu267Lys) | |
| 5 | g.146340226G>C | CA3491205 | POU4F3 | c.799G>C (p.Glu267Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340226G= | CA1589086841 | POU4F3 | c.799G= (p.Glu267=) | |
| 5 | g.146340226G>T | CA361622445 | POU4F3 | c.799G>T (p.Glu267Ter) | |
| 5 | g.146340227A>C | CA361622449 | POU4F3 | c.800A>C (p.Glu267Ala) | |
| 5 | g.146340227A>G | CA361622450 | POU4F3 | c.800A>G (p.Glu267Gly) | |
| 5 | g.146340227A>T | CA361622451 | POU4F3 | c.800A>T (p.Glu267Val) | |
| 5 | g.146340228G>A | CA3491206 | POU4F3 | c.801G>A (p.Glu267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340228G>C | CA361622453 | POU4F3 | c.801G>C (p.Glu267Asp) | |
| 5 | g.146340228G= | CA1589086842 | POU4F3 | c.801G= (p.Glu267=) | |
| 5 | g.146340228G>T | CA361622456 | POU4F3 | c.801G>T (p.Glu267Asp) | |
| 5 | g.146340229C>A | CA361622460 | POU4F3 | c.802C>A (p.Leu268Ile) | COSMIC |
| 5 | g.146340229C= | CA1589086843 | POU4F3 | c.802C= (p.Leu268=) | |
| 5 | g.146340229C>G | CA361622462 | POU4F3 | c.802C>G (p.Leu268Val) | |
| 5 | g.146340229C>T | CA361622465 | POU4F3 | c.802C>T (p.Leu268Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340230T>A | CA361622468 | POU4F3 | c.803T>A (p.Leu268His) | |
| 5 | g.146340230T>C | CA361622470 | POU4F3 | c.803T>C (p.Leu268Pro) | |
| 5 | g.146340230T>G | CA361622472 | POU4F3 | c.803T>G (p.Leu268Arg) | |
| 5 | g.146340231C>A | CA447098101 | POU4F3 | c.804C>A (p.Leu268=) | |
| 5 | g.146340231C>G | CA447098100 | POU4F3 | c.804C>G (p.Leu268=) | |
| 5 | g.146340231C>T | CA447098099 | POU4F3 | c.804C>T (p.Leu268=) | COSMIC |