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 |
|---|---|---|---|---|---|
| 1 | g.214657181C>A | CA344857014 | CENPF | c.8557C>A (p.Pro2853Thr) n.833C>A c.8734C>A (p.Pro2912Thr) n.505C>A c.7669C>A (p.Pro2557Thr) | |
| 1 | g.214657181C= | CA2486377653 | CENPF | c.8557C= (p.Pro2853=) n.833C= c.8734C= (p.Pro2912=) n.505C= c.7669C= (p.Pro2557=) | |
| 1 | g.214657181C>G | CA344857015 | CENPF | c.8557C>G (p.Pro2853Ala) n.833C>G c.8734C>G (p.Pro2912Ala) n.505C>G c.7669C>G (p.Pro2557Ala) | gnomAD v4 |
| 1 | g.214657181C>T | CA1391483 | CENPF | c.8557C>T (p.Pro2853Ser) n.833C>T c.8734C>T (p.Pro2912Ser) n.505C>T c.7669C>T (p.Pro2557Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657182C>A | CA344857016 | CENPF | c.8558C>A (p.Pro2853Gln) n.834C>A c.8735C>A (p.Pro2912Gln) n.506C>A c.7670C>A (p.Pro2557Gln) | |
| 1 | g.214657182C>G | CA344857018 | CENPF | c.8558C>G (p.Pro2853Arg) n.834C>G c.8735C>G (p.Pro2912Arg) n.506C>G c.7670C>G (p.Pro2557Arg) | |
| 1 | g.214657182C>T | CA344857017 | CENPF | c.8558C>T (p.Pro2853Leu) n.834C>T c.8735C>T (p.Pro2912Leu) n.506C>T c.7670C>T (p.Pro2557Leu) | |
| 1 | g.214657183A= | CA1141770945 | CENPF | c.8559A= (p.Pro2853=) n.835A= c.8736A= (p.Pro2912=) n.507A= c.7671A= (p.Pro2557=) | |
| 1 | g.214657183A>C | CA1391484 | CENPF | c.8559A>C (p.Pro2853=) n.835A>C c.8736A>C (p.Pro2912=) n.507A>C c.7671A>C (p.Pro2557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657183A>G | CA423429734 | CENPF | c.8559A>G (p.Pro2853=) n.835A>G c.8736A>G (p.Pro2912=) n.507A>G c.7671A>G (p.Pro2557=) | |
| 1 | g.214657183A>T | CA423429735 | CENPF | c.8559A>T (p.Pro2853=) n.835A>T c.8736A>T (p.Pro2912=) n.507A>T c.7671A>T (p.Pro2557=) | |
| 1 | g.214657184A= | CA2486377654 | CENPF | c.8560A= (p.Ile2854=) n.836A= c.8737A= (p.Ile2913=) n.508A= c.7672A= (p.Ile2558=) | |
| 1 | g.214657184A>C | CA344857020 | CENPF | c.8560A>C (p.Ile2854Leu) n.836A>C c.8737A>C (p.Ile2913Leu) n.508A>C c.7672A>C (p.Ile2558Leu) | gnomAD v4 |
| 1 | g.214657184A>G | CA1391485 | CENPF | c.8560A>G (p.Ile2854Val) n.836A>G c.8737A>G (p.Ile2913Val) n.508A>G c.7672A>G (p.Ile2558Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657184A>T | CA344857019 | CENPF | c.8560A>T (p.Ile2854Phe) n.836A>T c.8737A>T (p.Ile2913Phe) n.508A>T c.7672A>T (p.Ile2558Phe) | |
| 1 | g.214657185T>A | CA344857021 | CENPF | c.8561T>A (p.Ile2854Asn) n.837T>A c.8738T>A (p.Ile2913Asn) n.509T>A c.7673T>A (p.Ile2558Asn) | |
| 1 | g.214657185T>C | CA344857022 | CENPF | c.8561T>C (p.Ile2854Thr) n.837T>C c.8738T>C (p.Ile2913Thr) n.509T>C c.7673T>C (p.Ile2558Thr) | |
| 1 | g.214657185T>G | CA344857023 | CENPF | c.8561T>G (p.Ile2854Ser) n.837T>G c.8738T>G (p.Ile2913Ser) n.509T>G c.7673T>G (p.Ile2558Ser) | |
| 1 | g.214657186C>A | CA423429743 | CENPF | c.8562C>A (p.Ile2854=) n.838C>A c.8739C>A (p.Ile2913=) n.510C>A c.7674C>A (p.Ile2558=) | dbSNP gnomAD v4 |
| 1 | g.214657186C= | CA2486377655 | CENPF | c.8562C= (p.Ile2854=) n.838C= c.8739C= (p.Ile2913=) n.510C= c.7674C= (p.Ile2558=) | |
| 1 | g.214657186C>G | CA344857024 | CENPF | c.8562C>G (p.Ile2854Met) n.838C>G c.8739C>G (p.Ile2913Met) n.510C>G c.7674C>G (p.Ile2558Met) | gnomAD v4 |
| 1 | g.214657186C>T | CA423429746 | CENPF | c.8562C>T (p.Ile2854=) n.838C>T c.8739C>T (p.Ile2913=) n.510C>T c.7674C>T (p.Ile2558=) | |
| 1 | g.214657187C>A | CA344857025 | CENPF | c.8563C>A (p.Pro2855Thr) n.839C>A c.8740C>A (p.Pro2914Thr) n.511C>A c.7675C>A (p.Pro2559Thr) | |
| 1 | g.214657187C= | CA2486377656 | CENPF | c.8563C= (p.Pro2855=) n.839C= c.8740C= (p.Pro2914=) n.511C= c.7675C= (p.Pro2559=) | |
| 1 | g.214657187C>G | CA344857026 | CENPF | c.8563C>G (p.Pro2855Ala) n.839C>G c.8740C>G (p.Pro2914Ala) n.511C>G c.7675C>G (p.Pro2559Ala) | |
| 1 | g.214657187C>T | CA344857027 | CENPF | c.8563C>T (p.Pro2855Ser) n.839C>T c.8740C>T (p.Pro2914Ser) n.511C>T c.7675C>T (p.Pro2559Ser) | dbSNP gnomAD v4 |
| 1 | g.214657188C>A | CA344857028 | CENPF | c.8564C>A (p.Pro2855His) n.840C>A c.8741C>A (p.Pro2914His) n.512C>A c.7676C>A (p.Pro2559His) | |
| 1 | g.214657188C= | CA2486377657 | CENPF | c.8564C= (p.Pro2855=) n.840C= c.8741C= (p.Pro2914=) n.512C= c.7676C= (p.Pro2559=) | |
| 1 | g.214657188C>G | CA344857029 | CENPF | c.8564C>G (p.Pro2855Arg) n.840C>G c.8741C>G (p.Pro2914Arg) n.512C>G c.7676C>G (p.Pro2559Arg) | |
| 1 | g.214657188C>T | CA344857030 | CENPF | c.8564C>T (p.Pro2855Leu) n.840C>T c.8741C>T (p.Pro2914Leu) n.512C>T c.7676C>T (p.Pro2559Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.214657189T>A | CA423429752 | CENPF | c.8565T>A (p.Pro2855=) n.841T>A c.8742T>A (p.Pro2914=) n.513T>A c.7677T>A (p.Pro2559=) | |
| 1 | g.214657189T>C | CA423429753 | CENPF | c.8565T>C (p.Pro2855=) n.841T>C c.8742T>C (p.Pro2914=) n.513T>C c.7677T>C (p.Pro2559=) | COSMIC |
| 1 | g.214657189T>G | CA423429755 | CENPF | c.8565T>G (p.Pro2855=) n.841T>G c.8742T>G (p.Pro2914=) n.513T>G c.7677T>G (p.Pro2559=) | |
| 1 | g.214657190T>A | CA344857033 | CENPF | c.8566T>A (p.Ser2856Thr) n.842T>A c.8743T>A (p.Ser2915Thr) n.514T>A c.7678T>A (p.Ser2560Thr) | |
| 1 | g.214657190T>C | CA344857032 | CENPF | c.8566T>C (p.Ser2856Pro) n.842T>C c.8743T>C (p.Ser2915Pro) n.514T>C c.7678T>C (p.Ser2560Pro) | |
| 1 | g.214657190T>G | CA344857031 | CENPF | c.8566T>G (p.Ser2856Ala) n.842T>G c.8743T>G (p.Ser2915Ala) n.514T>G c.7678T>G (p.Ser2560Ala) | |
| 1 | g.214657191C>A | CA344857034 | CENPF | c.8567C>A (p.Ser2856Tyr) n.843C>A c.8744C>A (p.Ser2915Tyr) n.515C>A c.7679C>A (p.Ser2560Tyr) | |
| 1 | g.214657191C>G | CA344857035 | CENPF | c.8567C>G (p.Ser2856Cys) n.843C>G c.8744C>G (p.Ser2915Cys) n.515C>G c.7679C>G (p.Ser2560Cys) | |
| 1 | g.214657191C>T | CA344857036 | CENPF | c.8567C>T (p.Ser2856Phe) n.843C>T c.8744C>T (p.Ser2915Phe) n.515C>T c.7679C>T (p.Ser2560Phe) | gnomAD v4 |
| 1 | g.214657192T>A | CA1391486 | CENPF | c.8568T>A (p.Ser2856=) n.844T>A c.8745T>A (p.Ser2915=) n.516T>A c.7680T>A (p.Ser2560=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657192T>C | CA423429760 | CENPF | c.8568T>C (p.Ser2856=) n.844T>C c.8745T>C (p.Ser2915=) n.516T>C c.7680T>C (p.Ser2560=) | |
| 1 | g.214657192T>G | CA423429759 | CENPF | c.8568T>G (p.Ser2856=) n.844T>G c.8745T>G (p.Ser2915=) n.516T>G c.7680T>G (p.Ser2560=) | |
| 1 | g.214657192T= | CA2486377658 | CENPF | c.8568T= (p.Ser2856=) n.844T= c.8745T= (p.Ser2915=) n.516T= c.7680T= (p.Ser2560=) | |
| 1 | g.214657193G>A | CA344857037 | CENPF | c.8569G>A (p.Val2857Ile) n.845G>A c.8746G>A (p.Val2916Ile) n.517G>A c.7681G>A (p.Val2561Ile) | gnomAD v4 |
| 1 | g.214657193G>C | CA344857038 | CENPF | c.8569G>C (p.Val2857Leu) n.845G>C c.8746G>C (p.Val2916Leu) n.517G>C c.7681G>C (p.Val2561Leu) | gnomAD v4 |
| 1 | g.214657193G>T | CA344857039 | CENPF | c.8569G>T (p.Val2857Phe) n.845G>T c.8746G>T (p.Val2916Phe) n.517G>T c.7681G>T (p.Val2561Phe) | |
| 1 | g.214657194T>A | CA344857040 | CENPF | c.8570T>A (p.Val2857Asp) n.846T>A c.8747T>A (p.Val2916Asp) n.518T>A c.7682T>A (p.Val2561Asp) | |
| 1 | g.214657194T>C | CA344857041 | CENPF | c.8570T>C (p.Val2857Ala) n.846T>C c.8747T>C (p.Val2916Ala) n.518T>C c.7682T>C (p.Val2561Ala) | |
| 1 | g.214657194T>G | CA344857042 | CENPF | c.8570T>G (p.Val2857Gly) n.846T>G c.8747T>G (p.Val2916Gly) n.518T>G c.7682T>G (p.Val2561Gly) | |
| 1 | g.214657195T>A | CA423429767 | CENPF | c.8571T>A (p.Val2857=) n.847T>A c.8748T>A (p.Val2916=) n.519T>A c.7683T>A (p.Val2561=) | |
| 1 | g.214657195T>C | CA423429768 | CENPF | c.8571T>C (p.Val2857=) n.847T>C c.8748T>C (p.Val2916=) n.519T>C c.7683T>C (p.Val2561=) | |
| 1 | g.214657195T>G | CA423429774 | CENPF | c.8571T>G (p.Val2857=) n.847T>G c.8748T>G (p.Val2916=) n.519T>G c.7683T>G (p.Val2561=) | |
| 1 | g.214657196A>C | CA344857043 | CENPF | c.8572A>C (p.Thr2858Pro) n.848A>C c.8749A>C (p.Thr2917Pro) n.520A>C c.7684A>C (p.Thr2562Pro) | |
| 1 | g.214657196A>G | CA344857044 | CENPF | c.8572A>G (p.Thr2858Ala) n.848A>G c.8749A>G (p.Thr2917Ala) n.520A>G c.7684A>G (p.Thr2562Ala) | |
| 1 | g.214657196A>T | CA344857045 | CENPF | c.8572A>T (p.Thr2858Ser) n.848A>T c.8749A>T (p.Thr2917Ser) n.520A>T c.7684A>T (p.Thr2562Ser) | COSMIC |
| 1 | g.214657197C>A | CA1391487 | CENPF | c.8573C>A (p.Thr2858Asn) n.849C>A c.8750C>A (p.Thr2917Asn) n.521C>A c.7685C>A (p.Thr2562Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657197C= | CA1143846880 | CENPF | c.8573C= (p.Thr2858=) n.849C= c.8750C= (p.Thr2917=) n.521C= c.7685C= (p.Thr2562=) | |
| 1 | g.214657197C>G | CA344857047 | CENPF | c.8573C>G (p.Thr2858Ser) n.849C>G c.8750C>G (p.Thr2917Ser) n.521C>G c.7685C>G (p.Thr2562Ser) | |
| 1 | g.214657197C>T | CA344857046 | CENPF | c.8573C>T (p.Thr2858Ile) n.849C>T c.8750C>T (p.Thr2917Ile) n.521C>T c.7685C>T (p.Thr2562Ile) | gnomAD v4 |
| 1 | g.214657198T>A | CA423429780 | CENPF | c.8574T>A (p.Thr2858=) n.850T>A c.8751T>A (p.Thr2917=) n.522T>A c.7686T>A (p.Thr2562=) | |
| 1 | g.214657198T>C | CA423429781 | CENPF | c.8574T>C (p.Thr2858=) n.850T>C c.8751T>C (p.Thr2917=) n.522T>C c.7686T>C (p.Thr2562=) | gnomAD v4 |
| 1 | g.214657198T>G | CA423429783 | CENPF | c.8574T>G (p.Thr2858=) n.850T>G c.8751T>G (p.Thr2917=) n.522T>G c.7686T>G (p.Thr2562=) | |
| 1 | g.214657199G>A | CA344857048 | CENPF | c.8575G>A (p.Glu2859Lys) n.851G>A c.8752G>A (p.Glu2918Lys) n.523G>A c.7687G>A (p.Glu2563Lys) | COSMIC |
| 1 | g.214657199G>C | CA344857049 | CENPF | c.8575G>C (p.Glu2859Gln) n.851G>C c.8752G>C (p.Glu2918Gln) n.523G>C c.7687G>C (p.Glu2563Gln) | |
| 1 | g.214657199G>T | CA344857050 | CENPF | c.8575G>T (p.Glu2859Ter) n.851G>T c.8752G>T (p.Glu2918Ter) n.523G>T c.7687G>T (p.Glu2563Ter) | |
| 1 | g.214657200A>C | CA344857051 | CENPF | c.8576A>C (p.Glu2859Ala) n.852A>C c.8753A>C (p.Glu2918Ala) n.524A>C c.7688A>C (p.Glu2563Ala) | |
| 1 | g.214657200A>G | CA344857052 | CENPF | c.8576A>G (p.Glu2859Gly) n.852A>G c.8753A>G (p.Glu2918Gly) n.524A>G c.7688A>G (p.Glu2563Gly) | |
| 1 | g.214657200A>T | CA344857053 | CENPF | c.8576A>T (p.Glu2859Val) n.852A>T c.8753A>T (p.Glu2918Val) n.524A>T c.7688A>T (p.Glu2563Val) | |
| 1 | g.214657201A= | CA2486377659 | CENPF | c.8577A= (p.Glu2859=) n.853A= c.8754A= (p.Glu2918=) n.525A= c.7689A= (p.Glu2563=) | |
| 1 | g.214657201A>C | CA344857054 | CENPF | c.8577A>C (p.Glu2859Asp) n.853A>C c.8754A>C (p.Glu2918Asp) n.525A>C c.7689A>C (p.Glu2563Asp) | gnomAD v4 |
| 1 | g.214657201A>G | CA423429788 | CENPF | c.8577A>G (p.Glu2859=) n.853A>G c.8754A>G (p.Glu2918=) n.525A>G c.7689A>G (p.Glu2563=) | dbSNP |
| 1 | g.214657201A>T | CA344857055 | CENPF | c.8577A>T (p.Glu2859Asp) n.853A>T c.8754A>T (p.Glu2918Asp) n.525A>T c.7689A>T (p.Glu2563Asp) | |
| 1 | g.214657202A>C | CA344857056 | CENPF | c.8578A>C (p.Lys2860Gln) n.854A>C c.8755A>C (p.Lys2919Gln) n.526A>C c.7690A>C (p.Lys2564Gln) | |
| 1 | g.214657202A>G | CA344857057 | CENPF | c.8578A>G (p.Lys2860Glu) n.854A>G c.8755A>G (p.Lys2919Glu) n.526A>G c.7690A>G (p.Lys2564Glu) | |
| 1 | g.214657202A>T | CA344857058 | CENPF | c.8578A>T (p.Lys2860Ter) n.854A>T c.8755A>T (p.Lys2919Ter) n.526A>T c.7690A>T (p.Lys2564Ter) | |
| 1 | g.214657203A>C | CA344857061 | CENPF | c.8579A>C (p.Lys2860Thr) n.855A>C c.8756A>C (p.Lys2919Thr) n.527A>C c.7691A>C (p.Lys2564Thr) | |
| 1 | g.214657203A>G | CA344857059 | CENPF | c.8579A>G (p.Lys2860Arg) n.855A>G c.8756A>G (p.Lys2919Arg) n.527A>G c.7691A>G (p.Lys2564Arg) | |
| 1 | g.214657203A>T | CA344857060 | CENPF | c.8579A>T (p.Lys2860Met) n.855A>T c.8756A>T (p.Lys2919Met) n.527A>T c.7691A>T (p.Lys2564Met) | |
| 1 | g.214657205_214657206del | CA2650488282 | CENPF | c.8581_8582del (p.Arg2861ValfsTer7) n.857_858del c.8758_8759del (p.Arg2920ValfsTer7) n.529_530del c.7693_7694del (p.Arg2565ValfsTer7) | gnomAD v4 |
| 1 | g.214657204G>A | CA423429796 | CENPF | c.8580G>A (p.Lys2860=) n.856G>A c.8757G>A (p.Lys2919=) n.528G>A c.7692G>A (p.Lys2564=) | gnomAD v4 COSMIC |
| 1 | g.214657204G>C | CA344857062 | CENPF | c.8580G>C (p.Lys2860Asn) n.856G>C c.8757G>C (p.Lys2919Asn) n.528G>C c.7692G>C (p.Lys2564Asn) | dbSNP gnomAD v4 |
| 1 | g.214657204G= | CA2486377660 | CENPF | c.8580G= (p.Lys2860=) n.856G= c.8757G= (p.Lys2919=) n.528G= c.7692G= (p.Lys2564=) | |
| 1 | g.214657204G>T | CA344857063 | CENPF | c.8580G>T (p.Lys2860Asn) n.856G>T c.8757G>T (p.Lys2919Asn) n.528G>T c.7692G>T (p.Lys2564Asn) | |
| 1 | g.214657205A= | CA2486377661 | CENPF | c.8581A= (p.Arg2861=) n.857A= c.8758A= (p.Arg2920=) n.529A= c.7693A= (p.Arg2565=) | |
| 1 | g.214657205A>C | CA423429797 | CENPF | c.8581A>C (p.Arg2861=) n.857A>C c.8758A>C (p.Arg2920=) n.529A>C c.7693A>C (p.Arg2565=) | |
| 1 | g.214657205A>G | CA344857064 | CENPF | c.8581A>G (p.Arg2861Gly) n.857A>G c.8758A>G (p.Arg2920Gly) n.529A>G c.7693A>G (p.Arg2565Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.214657205A>T | CA344857065 | CENPF | c.8581A>T (p.Arg2861Trp) n.857A>T c.8758A>T (p.Arg2920Trp) n.529A>T c.7693A>T (p.Arg2565Trp) | |
| 1 | g.214657206G>A | CA1391488 | CENPF | c.8582G>A (p.Arg2861Lys) n.858G>A c.8759G>A (p.Arg2920Lys) n.530G>A c.7694G>A (p.Arg2565Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657206G>C | CA344857066 | CENPF | c.8582G>C (p.Arg2861Thr) n.858G>C c.8759G>C (p.Arg2920Thr) n.530G>C c.7694G>C (p.Arg2565Thr) | gnomAD v4 |
| 1 | g.214657206G= | CA2486377662 | CENPF | c.8582G= (p.Arg2861=) n.858G= c.8759G= (p.Arg2920=) n.530G= c.7694G= (p.Arg2565=) | |
| 1 | g.214657206G>T | CA344857067 | CENPF | c.8582G>T (p.Arg2861Met) n.858G>T c.8759G>T (p.Arg2920Met) n.530G>T c.7694G>T (p.Arg2565Met) | |
| 1 | g.214657207G>A | CA423429799 | CENPF | c.8583G>A (p.Arg2861=) n.859G>A c.8760G>A (p.Arg2920=) n.531G>A c.7695G>A (p.Arg2565=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657207G>C | CA344857068 | CENPF | c.8583G>C (p.Arg2861Ser) n.859G>C c.8760G>C (p.Arg2920Ser) n.531G>C c.7695G>C (p.Arg2565Ser) | gnomAD v4 |
| 1 | g.214657207G= | CA1148440323 | CENPF | c.8583G= (p.Arg2861=) n.859G= c.8760G= (p.Arg2920=) n.531G= c.7695G= (p.Arg2565=) | |
| 1 | g.214657207G>T | CA1391489 | CENPF | c.8583G>T (p.Arg2861Ser) n.859G>T c.8760G>T (p.Arg2920Ser) n.531G>T c.7695G>T (p.Arg2565Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657208T>A | CA344857069 | CENPF | c.8584T>A (p.Leu2862Ile) n.860T>A c.8761T>A (p.Leu2921Ile) n.532T>A c.7696T>A (p.Leu2566Ile) | |
| 1 | g.214657208T>C | CA423429802 | CENPF | c.8584T>C (p.Leu2862=) n.860T>C c.8761T>C (p.Leu2921=) n.532T>C c.7696T>C (p.Leu2566=) | |
| 1 | g.214657208T>G | CA344857070 | CENPF | c.8584T>G (p.Leu2862Val) n.860T>G c.8761T>G (p.Leu2921Val) n.532T>G c.7696T>G (p.Leu2566Val) | |
| 1 | g.214657209T>A | CA344857072 | CENPF | c.8585T>A (p.Leu2862Ter) n.861T>A c.8762T>A (p.Leu2921Ter) n.533T>A c.7697T>A (p.Leu2566Ter) | |
| 1 | g.214657209T>C | CA344857073 | CENPF | c.8585T>C (p.Leu2862Ser) n.861T>C c.8762T>C (p.Leu2921Ser) n.533T>C c.7697T>C (p.Leu2566Ser) | |
| 1 | g.214657209T>G | CA344857071 | CENPF | c.8585T>G (p.Leu2862Ter) n.861T>G c.8762T>G (p.Leu2921Ter) n.533T>G c.7697T>G (p.Leu2566Ter) | |
| 1 | g.214657210A= | CA2486377663 | CENPF | c.8586A= (p.Leu2862=) n.862A= c.8763A= (p.Leu2921=) n.534A= c.7698A= (p.Leu2566=) | |
| 1 | g.214657210A>C | CA1391490 | CENPF | c.8586A>C (p.Leu2862Phe) n.862A>C c.8763A>C (p.Leu2921Phe) n.534A>C c.7698A>C (p.Leu2566Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657210A>G | CA423429803 | CENPF | c.8586A>G (p.Leu2862=) n.862A>G c.8763A>G (p.Leu2921=) n.534A>G c.7698A>G (p.Leu2566=) | |
| 1 | g.214657210A>T | CA344857074 | CENPF | c.8586A>T (p.Leu2862Phe) n.862A>T c.8763A>T (p.Leu2921Phe) n.534A>T c.7698A>T (p.Leu2566Phe) | |
| 1 | g.214657211T>A | CA344857075 | CENPF | c.8587T>A (p.Ser2863Thr) n.863T>A c.8764T>A (p.Ser2922Thr) n.535T>A c.7699T>A (p.Ser2567Thr) | |
| 1 | g.214657211T>C | CA344857076 | CENPF | c.8587T>C (p.Ser2863Pro) n.863T>C c.8764T>C (p.Ser2922Pro) n.535T>C c.7699T>C (p.Ser2567Pro) | |
| 1 | g.214657211T>G | CA344857077 | CENPF | c.8587T>G (p.Ser2863Ala) n.863T>G c.8764T>G (p.Ser2922Ala) n.535T>G c.7699T>G (p.Ser2567Ala) | |
| 1 | g.214657212C>A | CA344857079 | CENPF | c.8588C>A (p.Ser2863Ter) n.864C>A c.8765C>A (p.Ser2922Ter) n.536C>A c.7700C>A (p.Ser2567Ter) | |
| 1 | g.214657212C= | CA2486377664 | CENPF | c.8588C= (p.Ser2863=) n.864C= c.8765C= (p.Ser2922=) n.536C= c.7700C= (p.Ser2567=) | |
| 1 | g.214657212C>G | CA344857081 | CENPF | c.8588C>G (p.Ser2863Ter) n.864C>G c.8765C>G (p.Ser2922Ter) n.536C>G c.7700C>G (p.Ser2567Ter) | |
| 1 | g.214657212C>T | CA344857082 | CENPF | c.8588C>T (p.Ser2863Leu) n.864C>T c.8765C>T (p.Ser2922Leu) n.536C>T c.7700C>T (p.Ser2567Leu) | dbSNP |
| 1 | g.214657213A= | CA2486377665 | CENPF | c.8589A= (p.Ser2863=) n.865A= c.8766A= (p.Ser2922=) n.537A= c.7701A= (p.Ser2567=) | |
| 1 | g.214657213A>C | CA423429805 | CENPF | c.8589A>C (p.Ser2863=) n.865A>C c.8766A>C (p.Ser2922=) n.537A>C c.7701A>C (p.Ser2567=) | |
| 1 | g.214657213A>G | CA423429806 | CENPF | c.8589A>G (p.Ser2863=) n.865A>G c.8766A>G (p.Ser2922=) n.537A>G c.7701A>G (p.Ser2567=) | gnomAD v4 |
| 1 | g.214657213A>T | CA1391491 | CENPF | c.8589A>T (p.Ser2863=) n.865A>T c.8766A>T (p.Ser2922=) n.537A>T c.7701A>T (p.Ser2567=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657214T>A | CA344857084 | CENPF | c.8590T>A (p.Ser2864Thr) n.866T>A c.8767T>A (p.Ser2923Thr) n.538T>A c.7702T>A (p.Ser2568Thr) | |
| 1 | g.214657214T>C | CA344857085 | CENPF | c.8590T>C (p.Ser2864Pro) n.866T>C c.8767T>C (p.Ser2923Pro) n.538T>C c.7702T>C (p.Ser2568Pro) | |
| 1 | g.214657214T>G | CA344857087 | CENPF | c.8590T>G (p.Ser2864Ala) n.866T>G c.8767T>G (p.Ser2923Ala) n.538T>G c.7702T>G (p.Ser2568Ala) | |
| 1 | g.214657215C>A | CA344857091 | CENPF | c.8591C>A (p.Ser2864Tyr) n.867C>A c.8768C>A (p.Ser2923Tyr) n.539C>A c.7703C>A (p.Ser2568Tyr) | |
| 1 | g.214657215C= | CA1144080914 | CENPF | c.8591C= (p.Ser2864=) n.867C= c.8768C= (p.Ser2923=) n.539C= c.7703C= (p.Ser2568=) | |
| 1 | g.214657215C>G | CA344857089 | CENPF | c.8591C>G (p.Ser2864Cys) n.867C>G c.8768C>G (p.Ser2923Cys) n.539C>G c.7703C>G (p.Ser2568Cys) | |
| 1 | g.214657215C>T | CA1391492 | CENPF | c.8591C>T (p.Ser2864Phe) n.867C>T c.8768C>T (p.Ser2923Phe) n.539C>T c.7703C>T (p.Ser2568Phe) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.214657216T>A | CA423429808 | CENPF | c.8592T>A (p.Ser2864=) n.868T>A c.8769T>A (p.Ser2923=) n.540T>A c.7704T>A (p.Ser2568=) | |
| 1 | g.214657216T>C | CA423429809 | CENPF | c.8592T>C (p.Ser2864=) n.868T>C c.8769T>C (p.Ser2923=) n.540T>C c.7704T>C (p.Ser2568=) | dbSNP gnomAD v2 |
| 1 | g.214657216T>G | CA423429810 | CENPF | c.8592T>G (p.Ser2864=) n.868T>G c.8769T>G (p.Ser2923=) n.540T>G c.7704T>G (p.Ser2568=) | |
| 1 | g.214657216T= | CA2486377666 | CENPF | c.8592T= (p.Ser2864=) n.868T= c.8769T= (p.Ser2923=) n.540T= c.7704T= (p.Ser2568=) | |
| 1 | g.214657217G>A | CA1391493 | CENPF | c.8593G>A (p.Gly2865Ser) n.869G>A c.8770G>A (p.Gly2924Ser) n.541G>A c.7705G>A (p.Gly2569Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657217G>C | CA344857093 | CENPF | c.8593G>C (p.Gly2865Arg) n.869G>C c.8770G>C (p.Gly2924Arg) n.541G>C c.7705G>C (p.Gly2569Arg) | |
| 1 | g.214657217G= | CA2486377667 | CENPF | c.8593G= (p.Gly2865=) n.869G= c.8770G= (p.Gly2924=) n.541G= c.7705G= (p.Gly2569=) | |
| 1 | g.214657217G>T | CA37381268 | CENPF | c.8593G>T (p.Gly2865Cys) n.869G>T c.8770G>T (p.Gly2924Cys) n.541G>T c.7705G>T (p.Gly2569Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657218dup | CA2574132261 | CENPF | c.8594dup (p.Gln2866ProfsTer3) n.870dup c.8771dup (p.Gln2925ProfsTer3) n.542dup c.7706dup (p.Gln2570ProfsTer3) | |
| 1 | g.214657218G>A | CA344857096 | CENPF | c.8594G>A (p.Gly2865Asp) n.870G>A c.8771G>A (p.Gly2924Asp) n.542G>A c.7706G>A (p.Gly2569Asp) | |
| 1 | g.214657218G>C | CA344857097 | CENPF | c.8594G>C (p.Gly2865Ala) n.870G>C c.8771G>C (p.Gly2924Ala) n.542G>C c.7706G>C (p.Gly2569Ala) | |
| 1 | g.214657218G>T | CA344857098 | CENPF | c.8594G>T (p.Gly2865Val) n.870G>T c.8771G>T (p.Gly2924Val) n.542G>T c.7706G>T (p.Gly2569Val) | |
| 1 | g.214657219C>A | CA423429814 | CENPF | c.8595C>A (p.Gly2865=) n.871C>A c.8772C>A (p.Gly2924=) n.543C>A c.7707C>A (p.Gly2569=) | |
| 1 | g.214657219C>G | CA423429813 | CENPF | c.8595C>G (p.Gly2865=) n.871C>G c.8772C>G (p.Gly2924=) n.543C>G c.7707C>G (p.Gly2569=) | |
| 1 | g.214657219C>T | CA423429812 | CENPF | c.8595C>T (p.Gly2865=) n.871C>T c.8772C>T (p.Gly2924=) n.543C>T c.7707C>T (p.Gly2569=) | |
| 1 | g.214657220C>A | CA344857100 | CENPF | c.8596C>A (p.Gln2866Lys) n.872C>A c.8773C>A (p.Gln2925Lys) n.544C>A c.7708C>A (p.Gln2570Lys) | |
| 1 | g.214657220C>G | CA344857102 | CENPF | c.8596C>G (p.Gln2866Glu) n.872C>G c.8773C>G (p.Gln2925Glu) n.544C>G c.7708C>G (p.Gln2570Glu) | gnomAD v4 |
| 1 | g.214657220C>T | CA344857104 | CENPF | c.8596C>T (p.Gln2866Ter) n.872C>T c.8773C>T (p.Gln2925Ter) n.544C>T c.7708C>T (p.Gln2570Ter) | |
| 1 | g.214657221A>C | CA344857105 | CENPF | c.8597A>C (p.Gln2866Pro) n.873A>C c.8774A>C (p.Gln2925Pro) n.545A>C c.7709A>C (p.Gln2570Pro) | |
| 1 | g.214657221A>G | CA344857106 | CENPF | c.8597A>G (p.Gln2866Arg) n.873A>G c.8774A>G (p.Gln2925Arg) n.545A>G c.7709A>G (p.Gln2570Arg) | gnomAD v4 |
| 1 | g.214657221A>T | CA344857107 | CENPF | c.8597A>T (p.Gln2866Leu) n.873A>T c.8774A>T (p.Gln2925Leu) n.545A>T c.7709A>T (p.Gln2570Leu) | |
| 1 | g.214657224_214657228del | CA2574132262 | CENPF | c.8600_8604del (p.Asn2867SerfsTer16) n.876_880del c.8777_8781del (p.Asn2926SerfsTer16) n.548_552del c.7712_7716del (p.Asn2571SerfsTer16) | |
| 1 | g.214657222A>C | CA344857109 | CENPF | c.8598A>C (p.Gln2866His) n.874A>C c.8775A>C (p.Gln2925His) n.546A>C c.7710A>C (p.Gln2570His) | |
| 1 | g.214657222A>G | CA423429817 | CENPF | c.8598A>G (p.Gln2866=) n.874A>G c.8775A>G (p.Gln2925=) n.546A>G c.7710A>G (p.Gln2570=) | |
| 1 | g.214657222A>T | CA344857110 | CENPF | c.8598A>T (p.Gln2866His) n.874A>T c.8775A>T (p.Gln2925His) n.546A>T c.7710A>T (p.Gln2570His) | |
| 1 | g.214657223A>C | CA344857114 | CENPF | c.8599A>C (p.Asn2867His) n.875A>C c.8776A>C (p.Asn2926His) n.547A>C c.7711A>C (p.Asn2571His) | |
| 1 | g.214657223A>G | CA344857115 | CENPF | c.8599A>G (p.Asn2867Asp) n.875A>G c.8776A>G (p.Asn2926Asp) n.547A>G c.7711A>G (p.Asn2571Asp) | |
| 1 | g.214657223A>T | CA344857112 | CENPF | c.8599A>T (p.Asn2867Tyr) n.875A>T c.8776A>T (p.Asn2926Tyr) n.547A>T c.7711A>T (p.Asn2571Tyr) | |
| 1 | g.214657224A= | CA2486377668 | CENPF | c.8600A= (p.Asn2867=) n.876A= c.8777A= (p.Asn2926=) n.548A= c.7712A= (p.Asn2571=) | |
| 1 | g.214657224A>C | CA344857116 | CENPF | c.8600A>C (p.Asn2867Thr) n.876A>C c.8777A>C (p.Asn2926Thr) n.548A>C c.7712A>C (p.Asn2571Thr) | |
| 1 | g.214657224A>G | CA1391494 | CENPF | c.8600A>G (p.Asn2867Ser) n.876A>G c.8777A>G (p.Asn2926Ser) n.548A>G c.7712A>G (p.Asn2571Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657224A>T | CA344857119 | CENPF | c.8600A>T (p.Asn2867Ile) n.876A>T c.8777A>T (p.Asn2926Ile) n.548A>T c.7712A>T (p.Asn2571Ile) | |
| 1 | g.214657225T>A | CA344857121 | CENPF | c.8601T>A (p.Asn2867Lys) n.877T>A c.8778T>A (p.Asn2926Lys) n.549T>A c.7713T>A (p.Asn2571Lys) | |
| 1 | g.214657225T>C | CA423429819 | CENPF | c.8601T>C (p.Asn2867=) n.877T>C c.8778T>C (p.Asn2926=) n.549T>C c.7713T>C (p.Asn2571=) | |
| 1 | g.214657225T>G | CA344857122 | CENPF | c.8601T>G (p.Asn2867Lys) n.877T>G c.8778T>G (p.Asn2926Lys) n.549T>G c.7713T>G (p.Asn2571Lys) | |
| 1 | g.214657226A= | CA1149044124 | CENPF | c.8602A= (p.Lys2868=) n.878A= c.8779A= (p.Lys2927=) n.550A= c.7714A= (p.Lys2572=) | |
| 1 | g.214657226A>C | CA344857124 | CENPF | c.8602A>C (p.Lys2868Gln) n.878A>C c.8779A>C (p.Lys2927Gln) n.550A>C c.7714A>C (p.Lys2572Gln) | |
| 1 | g.214657226A>G | CA1391495 | CENPF | c.8602A>G (p.Lys2868Glu) n.878A>G c.8779A>G (p.Lys2927Glu) n.550A>G c.7714A>G (p.Lys2572Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657226A>T | CA344857127 | CENPF | c.8602A>T (p.Lys2868Ter) n.878A>T c.8779A>T (p.Lys2927Ter) n.550A>T c.7714A>T (p.Lys2572Ter) | |
| 1 | g.214657227A>C | CA344857128 | CENPF | c.8603A>C (p.Lys2868Thr) n.879A>C c.8780A>C (p.Lys2927Thr) n.551A>C c.7715A>C (p.Lys2572Thr) | |
| 1 | g.214657227A>G | CA344857129 | CENPF | c.8603A>G (p.Lys2868Arg) n.879A>G c.8780A>G (p.Lys2927Arg) n.551A>G c.7715A>G (p.Lys2572Arg) | |
| 1 | g.214657227A>T | CA344857130 | CENPF | c.8603A>T (p.Lys2868Ile) n.879A>T c.8780A>T (p.Lys2927Ile) n.551A>T c.7715A>T (p.Lys2572Ile) | |
| 1 | g.214657228A>C | CA344857132 | CENPF | c.8604A>C (p.Lys2868Asn) n.880A>C c.8781A>C (p.Lys2927Asn) n.552A>C c.7716A>C (p.Lys2572Asn) | |
| 1 | g.214657228A>G | CA423429821 | CENPF | c.8604A>G (p.Lys2868=) n.880A>G c.8781A>G (p.Lys2927=) n.552A>G c.7716A>G (p.Lys2572=) | |
| 1 | g.214657228A>T | CA344857134 | CENPF | c.8604A>T (p.Lys2868Asn) n.880A>T c.8781A>T (p.Lys2927Asn) n.552A>T c.7716A>T (p.Lys2572Asn) | |
| 1 | g.214657229G>A | CA344857138 | CENPF | c.8605G>A (p.Ala2869Thr) n.881G>A c.8782G>A (p.Ala2928Thr) n.553G>A c.7717G>A (p.Ala2573Thr) | |
| 1 | g.214657229G>C | CA344857136 | CENPF | c.8605G>C (p.Ala2869Pro) n.881G>C c.8782G>C (p.Ala2928Pro) n.553G>C c.7717G>C (p.Ala2573Pro) | |
| 1 | g.214657229G>T | CA344857137 | CENPF | c.8605G>T (p.Ala2869Ser) n.881G>T c.8782G>T (p.Ala2928Ser) n.553G>T c.7717G>T (p.Ala2573Ser) | |
| 1 | g.214657230C>A | CA344857139 | CENPF | c.8606C>A (p.Ala2869Asp) n.882C>A c.8783C>A (p.Ala2928Asp) n.554C>A c.7718C>A (p.Ala2573Asp) | |
| 1 | g.214657230C>G | CA344857141 | CENPF | c.8606C>G (p.Ala2869Gly) n.882C>G c.8783C>G (p.Ala2928Gly) n.554C>G c.7718C>G (p.Ala2573Gly) | |
| 1 | g.214657230C>T | CA344857142 | CENPF | c.8606C>T (p.Ala2869Val) n.882C>T c.8783C>T (p.Ala2928Val) n.554C>T c.7718C>T (p.Ala2573Val) | gnomAD v4 |
| 1 | g.214657231T>A | CA423429825 | CENPF | c.8607T>A (p.Ala2869=) n.883T>A c.8784T>A (p.Ala2928=) n.555T>A c.7719T>A (p.Ala2573=) | |
| 1 | g.214657231T>C | CA423429827 | CENPF | c.8607T>C (p.Ala2869=) n.883T>C c.8784T>C (p.Ala2928=) n.555T>C c.7719T>C (p.Ala2573=) | |
| 1 | g.214657231T>G | CA423429828 | CENPF | c.8607T>G (p.Ala2869=) n.883T>G c.8784T>G (p.Ala2928=) n.555T>G c.7719T>G (p.Ala2573=) | dbSNP |
| 1 | g.214657231T= | CA2486377669 | CENPF | c.8607T= (p.Ala2869=) n.883T= c.8784T= (p.Ala2928=) n.555T= c.7719T= (p.Ala2573=) | |
| 1 | g.214657232T>A | CA344857144 | CENPF | c.8608T>A (p.Ser2870Thr) n.884T>A c.8785T>A (p.Ser2929Thr) n.556T>A c.7720T>A (p.Ser2574Thr) | |
| 1 | g.214657232T>C | CA344857145 | CENPF | c.8608T>C (p.Ser2870Pro) n.884T>C c.8785T>C (p.Ser2929Pro) n.556T>C c.7720T>C (p.Ser2574Pro) | |
| 1 | g.214657232T>G | CA344857147 | CENPF | c.8608T>G (p.Ser2870Ala) n.884T>G c.8785T>G (p.Ser2929Ala) n.556T>G c.7720T>G (p.Ser2574Ala) | |
| 1 | g.214657233C>A | CA344857149 | CENPF | c.8609C>A (p.Ser2870Ter) n.885C>A c.8786C>A (p.Ser2929Ter) n.557C>A c.7721C>A (p.Ser2574Ter) | |
| 1 | g.214657233C>G | CA344857150 | CENPF | c.8609C>G (p.Ser2870Ter) n.885C>G c.8786C>G (p.Ser2929Ter) n.557C>G c.7721C>G (p.Ser2574Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.214657233C>T | CA344857152 | CENPF | c.8609C>T (p.Ser2870Leu) n.885C>T c.8786C>T (p.Ser2929Leu) n.557C>T c.7721C>T (p.Ser2574Leu) | |
| 1 | g.214657234A>C | CA423429833 | CENPF | c.8610A>C (p.Ser2870=) n.886A>C c.8787A>C (p.Ser2929=) n.558A>C c.7722A>C (p.Ser2574=) | |
| 1 | g.214657234A>G | CA423429832 | CENPF | c.8610A>G (p.Ser2870=) n.886A>G c.8787A>G (p.Ser2929=) n.558A>G c.7722A>G (p.Ser2574=) | |
| 1 | g.214657234A>T | CA423429831 | CENPF | c.8610A>T (p.Ser2870=) n.886A>T c.8787A>T (p.Ser2929=) n.558A>T c.7722A>T (p.Ser2574=) | |
| 1 | g.214657234_214657235insAGA | CA2569066369 | CENPF | c.8610_8611insAGA (p.Ser2870_Gly2871insArg) n.886_887insAGA c.8787_8788insAGA (p.Ser2929_Gly2930insArg) n.558_559insAGA c.7722_7723insAGA (p.Ser2574_Gly2575insArg) | |
| 1 | g.214657235G>A | CA344857153 | CENPF | c.8611G>A (p.Gly2871Ser) n.887G>A c.8788G>A (p.Gly2930Ser) n.559G>A c.7723G>A (p.Gly2575Ser) | |
| 1 | g.214657235G>C | CA344857154 | CENPF | c.8611G>C (p.Gly2871Arg) n.887G>C c.8788G>C (p.Gly2930Arg) n.559G>C c.7723G>C (p.Gly2575Arg) | |
| 1 | g.214657235G>T | CA344857156 | CENPF | c.8611G>T (p.Gly2871Cys) n.887G>T c.8788G>T (p.Gly2930Cys) n.559G>T c.7723G>T (p.Gly2575Cys) | |
| 1 | g.214657236G>A | CA344857159 | CENPF | c.8612G>A (p.Gly2871Asp) n.888G>A c.8789G>A (p.Gly2930Asp) n.560G>A c.7724G>A (p.Gly2575Asp) | gnomAD v4 |
| 1 | g.214657236G>C | CA344857160 | CENPF | c.8612G>C (p.Gly2871Ala) n.888G>C c.8789G>C (p.Gly2930Ala) n.560G>C c.7724G>C (p.Gly2575Ala) | |
| 1 | g.214657236G= | CA2486377670 | CENPF | c.8612G= (p.Gly2871=) n.888G= c.8789G= (p.Gly2930=) n.560G= c.7724G= (p.Gly2575=) | |
| 1 | g.214657236G>T | CA1391496 | CENPF | c.8612G>T (p.Gly2871Val) n.888G>T c.8789G>T (p.Gly2930Val) n.560G>T c.7724G>T (p.Gly2575Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657237C>A | CA423429836 | CENPF | c.8613C>A (p.Gly2871=) n.889C>A c.8790C>A (p.Gly2930=) n.561C>A c.7725C>A (p.Gly2575=) | |
| 1 | g.214657237C= | CA1143072094 | CENPF | c.8613C= (p.Gly2871=) n.889C= c.8790C= (p.Gly2930=) n.561C= c.7725C= (p.Gly2575=) | |
| 1 | g.214657237C>G | CA423429837 | CENPF | c.8613C>G (p.Gly2871=) n.889C>G c.8790C>G (p.Gly2930=) n.561C>G c.7725C>G (p.Gly2575=) | |
| 1 | g.214657237C>T | CA1391497 | CENPF | c.8613C>T (p.Gly2871=) n.889C>T c.8790C>T (p.Gly2930=) n.561C>T c.7725C>T (p.Gly2575=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657238A>C | CA344857163 | CENPF | c.8614A>C (p.Lys2872Gln) n.890A>C c.8791A>C (p.Lys2931Gln) n.562A>C c.7726A>C (p.Lys2576Gln) | |
| 1 | g.214657238A>G | CA344857164 | CENPF | c.8614A>G (p.Lys2872Glu) n.890A>G c.8791A>G (p.Lys2931Glu) n.562A>G c.7726A>G (p.Lys2576Glu) | |
| 1 | g.214657238A>T | CA344857166 | CENPF | c.8614A>T (p.Lys2872Ter) n.890A>T c.8791A>T (p.Lys2931Ter) n.562A>T c.7726A>T (p.Lys2576Ter) | |
| 1 | g.214657239A= | CA2486377671 | CENPF | c.8615A= (p.Lys2872=) n.891A= c.8792A= (p.Lys2931=) n.563A= c.7727A= (p.Lys2576=) | |
| 1 | g.214657239A>C | CA344857167 | CENPF | c.8615A>C (p.Lys2872Thr) n.891A>C c.8792A>C (p.Lys2931Thr) n.563A>C c.7727A>C (p.Lys2576Thr) | |
| 1 | g.214657239A>G | CA344857169 | CENPF | c.8615A>G (p.Lys2872Arg) n.891A>G c.8792A>G (p.Lys2931Arg) n.563A>G c.7727A>G (p.Lys2576Arg) | dbSNP |
| 1 | g.214657239A>T | CA344857171 | CENPF | c.8615A>T (p.Lys2872Met) n.891A>T c.8792A>T (p.Lys2931Met) n.563A>T c.7727A>T (p.Lys2576Met) | |
| 1 | g.214657240G>A | CA423429840 | CENPF | c.8616G>A (p.Lys2872=) n.892G>A c.8793G>A (p.Lys2931=) n.564G>A c.7728G>A (p.Lys2576=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657240G>C | CA37381299 | CENPF | c.8616G>C (p.Lys2872Asn) n.892G>C c.8793G>C (p.Lys2931Asn) n.564G>C c.7728G>C (p.Lys2576Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.214657240G= | CA2486377672 | CENPF | c.8616G= (p.Lys2872=) n.892G= c.8793G= (p.Lys2931=) n.564G= c.7728G= (p.Lys2576=) | |
| 1 | g.214657240G>T | CA344857173 | CENPF | c.8616G>T (p.Lys2872Asn) n.892G>T c.8793G>T (p.Lys2931Asn) n.564G>T c.7728G>T (p.Lys2576Asn) | |
| 1 | g.214657241A>C | CA423429841 | CENPF | c.8617A>C (p.Arg2873=) n.893A>C c.8794A>C (p.Arg2932=) n.565A>C c.7729A>C (p.Arg2577=) | |
| 1 | g.214657241A>G | CA344857175 | CENPF | c.8617A>G (p.Arg2873Gly) n.893A>G c.8794A>G (p.Arg2932Gly) n.565A>G c.7729A>G (p.Arg2577Gly) | |
| 1 | g.214657241A>T | CA344857177 | CENPF | c.8617A>T (p.Arg2873Trp) n.893A>T c.8794A>T (p.Arg2932Trp) n.565A>T c.7729A>T (p.Arg2577Trp) | |
| 1 | g.214657242G>A | CA344857178 | CENPF | c.8618G>A (p.Arg2873Lys) n.894G>A c.8795G>A (p.Arg2932Lys) n.566G>A c.7730G>A (p.Arg2577Lys) | gnomAD v4 |
| 1 | g.214657242G>C | CA344857180 | CENPF | c.8618G>C (p.Arg2873Thr) n.894G>C c.8795G>C (p.Arg2932Thr) n.566G>C c.7730G>C (p.Arg2577Thr) | |
| 1 | g.214657242G>T | CA344857181 | CENPF | c.8618G>T (p.Arg2873Met) n.894G>T c.8795G>T (p.Arg2932Met) n.566G>T c.7730G>T (p.Arg2577Met) | |
| 1 | g.214657243dup | CA2747692470 | CENPF | c.8619dup (p.Gln2874AlafsTer11) n.895dup c.8796dup (p.Gln2933AlafsTer11) n.567dup c.7731dup (p.Gln2578AlafsTer11) | |
| 1 | g.214657243G>A | CA423429843 | CENPF | c.8619G>A (p.Arg2873=) n.895G>A c.8796G>A (p.Arg2932=) n.567G>A c.7731G>A (p.Arg2577=) | |
| 1 | g.214657243G>C | CA344857184 | CENPF | c.8619G>C (p.Arg2873Ser) n.895G>C c.8796G>C (p.Arg2932Ser) n.567G>C c.7731G>C (p.Arg2577Ser) | |
| 1 | g.214657243G>T | CA344857183 | CENPF | c.8619G>T (p.Arg2873Ser) n.895G>T c.8796G>T (p.Arg2932Ser) n.567G>T c.7731G>T (p.Arg2577Ser) | |
| 1 | g.214657244C>A | CA344857185 | CENPF | c.8620C>A (p.Gln2874Lys) n.896C>A c.8797C>A (p.Gln2933Lys) n.568C>A c.7732C>A (p.Gln2578Lys) | |
| 1 | g.214657244C>G | CA344857186 | CENPF | c.8620C>G (p.Gln2874Glu) n.896C>G c.8797C>G (p.Gln2933Glu) n.568C>G c.7732C>G (p.Gln2578Glu) | |
| 1 | g.214657244C>T | CA344857187 | CENPF | c.8620C>T (p.Gln2874Ter) n.896C>T c.8797C>T (p.Gln2933Ter) n.568C>T c.7732C>T (p.Gln2578Ter) | |
| 1 | g.214657245A= | CA2486377673 | CENPF | c.8621A= (p.Gln2874=) n.897A= c.8798A= (p.Gln2933=) n.569A= c.7733A= (p.Gln2578=) | |
| 1 | g.214657245A>C | CA1391498 | CENPF | c.8621A>C (p.Gln2874Pro) n.897A>C c.8798A>C (p.Gln2933Pro) n.569A>C c.7733A>C (p.Gln2578Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.214657245A>G | CA344857190 | CENPF | c.8621A>G (p.Gln2874Arg) n.897A>G c.8798A>G (p.Gln2933Arg) n.569A>G c.7733A>G (p.Gln2578Arg) | |
| 1 | g.214657245A>T | CA344857192 | CENPF | c.8621A>T (p.Gln2874Leu) n.897A>T c.8798A>T (p.Gln2933Leu) n.569A>T c.7733A>T (p.Gln2578Leu) | |
| 1 | g.214657246A= | CA2486377674 | CENPF | c.8622A= (p.Gln2874=) n.898A= c.8799A= (p.Gln2933=) n.570A= c.7734A= (p.Gln2578=) | |
| 1 | g.214657246A>C | CA344857193 | CENPF | c.8622A>C (p.Gln2874His) n.898A>C c.8799A>C (p.Gln2933His) n.570A>C c.7734A>C (p.Gln2578His) | |
| 1 | g.214657246A>G | CA423429846 | CENPF | c.8622A>G (p.Gln2874=) n.898A>G c.8799A>G (p.Gln2933=) n.570A>G c.7734A>G (p.Gln2578=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.214657246A>T | CA344857194 | CENPF | c.8622A>T (p.Gln2874His) n.898A>T c.8799A>T (p.Gln2933His) n.570A>T c.7734A>T (p.Gln2578His) | |
| 1 | g.214657247A= | CA2486377675 | CENPF | c.8623A= (p.Arg2875=) n.899A= c.8800A= (p.Arg2934=) n.571A= c.7735A= (p.Arg2579=) | |
| 1 | g.214657247A>C | CA423429847 | CENPF | c.8623A>C (p.Arg2875=) n.899A>C c.8800A>C (p.Arg2934=) n.571A>C c.7735A>C (p.Arg2579=) | dbSNP |
| 1 | g.214657247A>G | CA344857196 | CENPF | c.8623A>G (p.Arg2875Gly) n.899A>G c.8800A>G (p.Arg2934Gly) n.571A>G c.7735A>G (p.Arg2579Gly) | |
| 1 | g.214657247A>T | CA344857198 | CENPF | c.8623A>T (p.Arg2875Ter) n.899A>T c.8800A>T (p.Arg2934Ter) n.571A>T c.7735A>T (p.Arg2579Ter) | |
| 1 | g.214657248G>A | CA344857200 | CENPF | c.8624G>A (p.Arg2875Lys) n.900G>A c.8801G>A (p.Arg2934Lys) n.572G>A c.7736G>A (p.Arg2579Lys) | |
| 1 | g.214657248G>C | CA344857201 | CENPF | c.8624G>C (p.Arg2875Thr) n.900G>C c.8801G>C (p.Arg2934Thr) n.572G>C c.7736G>C (p.Arg2579Thr) | |
| 1 | g.214657248G= | CA1142396358 | CENPF | c.8624G= (p.Arg2875=) n.900G= c.8801G= (p.Arg2934=) n.572G= c.7736G= (p.Arg2579=) | |
| 1 | g.214657248G>T | CA1391499 | CENPF | c.8624G>T (p.Arg2875Ile) n.900G>T c.8801G>T (p.Arg2934Ile) n.572G>T c.7736G>T (p.Arg2579Ile) | dbSNP ExAC |
| 1 | g.214657249A= | CA1140825405 | CENPF | c.8625A= (p.Arg2875=) n.901A= c.8802A= (p.Arg2934=) n.573A= c.7737A= (p.Arg2579=) | |
| 1 | g.214657249A>C | CA344857206 | CENPF | c.8625A>C (p.Arg2875Ser) n.901A>C c.8802A>C (p.Arg2934Ser) n.573A>C c.7737A>C (p.Arg2579Ser) | gnomAD v4 |
| 1 | g.214657249A>G | CA1391500 | CENPF | c.8625A>G (p.Arg2875=) n.901A>G c.8802A>G (p.Arg2934=) n.573A>G c.7737A>G (p.Arg2579=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657249A>T | CA344857204 | CENPF | c.8625A>T (p.Arg2875Ser) n.901A>T c.8802A>T (p.Arg2934Ser) n.573A>T c.7737A>T (p.Arg2579Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.214657250T>A | CA344857211 | CENPF | c.8626T>A (p.Ser2876Thr) n.902T>A c.8803T>A (p.Ser2935Thr) n.574T>A c.7738T>A (p.Ser2580Thr) | |
| 1 | g.214657250T>C | CA344857208 | CENPF | c.8626T>C (p.Ser2876Pro) n.902T>C c.8803T>C (p.Ser2935Pro) n.574T>C c.7738T>C (p.Ser2580Pro) | |
| 1 | g.214657250T>G | CA344857209 | CENPF | c.8626T>G (p.Ser2876Ala) n.902T>G c.8803T>G (p.Ser2935Ala) n.574T>G c.7738T>G (p.Ser2580Ala) | gnomAD v4 |
| 1 | g.214657251C>A | CA344857212 | CENPF | c.8627C>A (p.Ser2876Tyr) n.903C>A c.8804C>A (p.Ser2935Tyr) n.575C>A c.7739C>A (p.Ser2580Tyr) | |
| 1 | g.214657251C>G | CA344857214 | CENPF | c.8627C>G (p.Ser2876Cys) n.903C>G c.8804C>G (p.Ser2935Cys) n.575C>G c.7739C>G (p.Ser2580Cys) | |
| 1 | g.214657251C>T | CA344857216 | CENPF | c.8627C>T (p.Ser2876Phe) n.903C>T c.8804C>T (p.Ser2935Phe) n.575C>T c.7739C>T (p.Ser2580Phe) | |
| 1 | g.214657252C>A | CA423429851 | CENPF | c.8628C>A (p.Ser2876=) n.904C>A c.8805C>A (p.Ser2935=) n.576C>A c.7740C>A (p.Ser2580=) | |
| 1 | g.214657252C>G | CA423429852 | CENPF | c.8628C>G (p.Ser2876=) n.904C>G c.8805C>G (p.Ser2935=) n.576C>G c.7740C>G (p.Ser2580=) | |
| 1 | g.214657252C>T | CA423429853 | CENPF | c.8628C>T (p.Ser2876=) n.904C>T c.8805C>T (p.Ser2935=) n.576C>T c.7740C>T (p.Ser2580=) | |
| 1 | g.214657253A>C | CA344857219 | CENPF | c.8629A>C (p.Ser2877Arg) n.905A>C c.8806A>C (p.Ser2936Arg) n.577A>C c.7741A>C (p.Ser2581Arg) | |
| 1 | g.214657253A>G | CA344857220 | CENPF | c.8629A>G (p.Ser2877Gly) n.905A>G c.8806A>G (p.Ser2936Gly) n.577A>G c.7741A>G (p.Ser2581Gly) | |
| 1 | g.214657253A>T | CA344857221 | CENPF | c.8629A>T (p.Ser2877Cys) n.905A>T c.8806A>T (p.Ser2936Cys) n.577A>T c.7741A>T (p.Ser2581Cys) | |
| 1 | g.214657254G>A | CA344857222 | CENPF | c.8630G>A (p.Ser2877Asn) n.906G>A c.8807G>A (p.Ser2936Asn) n.578G>A c.7742G>A (p.Ser2581Asn) | gnomAD v4 |
| 1 | g.214657254G>C | CA344857223 | CENPF | c.8630G>C (p.Ser2877Thr) n.906G>C c.8807G>C (p.Ser2936Thr) n.578G>C c.7742G>C (p.Ser2581Thr) | dbSNP |
| 1 | g.214657254G= | CA2486377676 | CENPF | c.8630G= (p.Ser2877=) n.906G= c.8807G= (p.Ser2936=) n.578G= c.7742G= (p.Ser2581=) | |
| 1 | g.214657254G>T | CA344857225 | CENPF | c.8630G>T (p.Ser2877Ile) n.906G>T c.8807G>T (p.Ser2936Ile) n.578G>T c.7742G>T (p.Ser2581Ile) | |
| 1 | g.214657255T>A | CA344857226 | CENPF | c.8631T>A (p.Ser2877Arg) n.907T>A c.8808T>A (p.Ser2936Arg) n.579T>A c.7743T>A (p.Ser2581Arg) | |
| 1 | g.214657255T>C | CA423429859 | CENPF | c.8631T>C (p.Ser2877=) n.907T>C c.8808T>C (p.Ser2936=) n.579T>C c.7743T>C (p.Ser2581=) | |
| 1 | g.214657255T>G | CA344857227 | CENPF | c.8631T>G (p.Ser2877Arg) n.907T>G c.8808T>G (p.Ser2936Arg) n.579T>G c.7743T>G (p.Ser2581Arg) | |
| 1 | g.214657256G>A | CA344857231 | CENPF | c.8632G>A (p.Gly2878Arg) n.908G>A c.8809G>A (p.Gly2937Arg) n.580G>A c.7744G>A (p.Gly2582Arg) | |
| 1 | g.214657256G>C | CA344857229 | CENPF | c.8632G>C (p.Gly2878Arg) n.908G>C c.8809G>C (p.Gly2937Arg) n.580G>C c.7744G>C (p.Gly2582Arg) | |
| 1 | g.214657256G>T | CA344857230 | CENPF | c.8632G>T (p.Gly2878Ter) n.908G>T c.8809G>T (p.Gly2937Ter) n.580G>T c.7744G>T (p.Gly2582Ter) | |
| 1 | g.214657257G>A | CA344857232 | CENPF | c.8633G>A (p.Gly2878Glu) n.909G>A c.8810G>A (p.Gly2937Glu) n.581G>A c.7745G>A (p.Gly2582Glu) | |
| 1 | g.214657257G>C | CA344857233 | CENPF | c.8633G>C (p.Gly2878Ala) n.909G>C c.8810G>C (p.Gly2937Ala) n.581G>C c.7745G>C (p.Gly2582Ala) | |
| 1 | g.214657257G>T | CA344857235 | CENPF | c.8633G>T (p.Gly2878Val) n.909G>T c.8810G>T (p.Gly2937Val) n.581G>T c.7745G>T (p.Gly2582Val) | |
| 1 | g.214657258A>C | CA423429864 | CENPF | c.8634A>C (p.Gly2878=) n.910A>C c.8811A>C (p.Gly2937=) n.582A>C c.7746A>C (p.Gly2582=) | |
| 1 | g.214657258A>G | CA423429865 | CENPF | c.8634A>G (p.Gly2878=) n.910A>G c.8811A>G (p.Gly2937=) n.582A>G c.7746A>G (p.Gly2582=) | |
| 1 | g.214657258A>T | CA423429866 | CENPF | c.8634A>T (p.Gly2878=) n.910A>T c.8811A>T (p.Gly2937=) n.582A>T c.7746A>T (p.Gly2582=) | |
| 1 | g.214657259del | CA2574132263 | CENPF | c.8635del (p.Ile2879TyrfsTer25) n.911del c.8812del (p.Ile2938TyrfsTer25) n.583del c.7747del (p.Ile2583TyrfsTer25) | gnomAD v4 |
| 1 | g.214657259A>C | CA344857236 | CENPF | c.8635A>C (p.Ile2879Leu) n.911A>C c.8812A>C (p.Ile2938Leu) n.583A>C c.7747A>C (p.Ile2583Leu) | gnomAD v4 |
| 1 | g.214657259A>G | CA344857238 | CENPF | c.8635A>G (p.Ile2879Val) n.911A>G c.8812A>G (p.Ile2938Val) n.583A>G c.7747A>G (p.Ile2583Val) | |
| 1 | g.214657259A>T | CA344857240 | CENPF | c.8635A>T (p.Ile2879Leu) n.911A>T c.8812A>T (p.Ile2938Leu) n.583A>T c.7747A>T (p.Ile2583Leu) | |
| 1 | g.214657260T>A | CA344857241 | CENPF | c.8636T>A (p.Ile2879Lys) n.912T>A c.8813T>A (p.Ile2938Lys) n.584T>A c.7748T>A (p.Ile2583Lys) | |
| 1 | g.214657260T>C | CA344857242 | CENPF | c.8636T>C (p.Ile2879Thr) n.912T>C c.8813T>C (p.Ile2938Thr) n.584T>C c.7748T>C (p.Ile2583Thr) | |
| 1 | g.214657260T>G | CA344857244 | CENPF | c.8636T>G (p.Ile2879Arg) n.912T>G c.8813T>G (p.Ile2938Arg) n.584T>G c.7748T>G (p.Ile2583Arg) | |
| 1 | g.214657261A>C | CA423429868 | CENPF | c.8637A>C (p.Ile2879=) n.913A>C c.8814A>C (p.Ile2938=) n.585A>C c.7749A>C (p.Ile2583=) | |
| 1 | g.214657261A>G | CA344857246 | CENPF | c.8637A>G (p.Ile2879Met) n.913A>G c.8814A>G (p.Ile2938Met) n.585A>G c.7749A>G (p.Ile2583Met) | |
| 1 | g.214657261A>T | CA423429869 | CENPF | c.8637A>T (p.Ile2879=) n.913A>T c.8814A>T (p.Ile2938=) n.585A>T c.7749A>T (p.Ile2583=) | |
| 1 | g.214657262T>A | CA344857248 | CENPF | c.8638T>A (p.Trp2880Arg) n.914T>A c.8815T>A (p.Trp2939Arg) n.586T>A c.7750T>A (p.Trp2584Arg) | gnomAD v4 |
| 1 | g.214657262T>C | CA344857249 | CENPF | c.8638T>C (p.Trp2880Arg) n.914T>C c.8815T>C (p.Trp2939Arg) n.586T>C c.7750T>C (p.Trp2584Arg) | |
| 1 | g.214657262T>G | CA344857250 | CENPF | c.8638T>G (p.Trp2880Gly) n.914T>G c.8815T>G (p.Trp2939Gly) n.586T>G c.7750T>G (p.Trp2584Gly) | |
| 1 | g.214657263G>A | CA344857253 | CENPF | c.8639G>A (p.Trp2880Ter) n.915G>A c.8816G>A (p.Trp2939Ter) n.587G>A c.7751G>A (p.Trp2584Ter) | |
| 1 | g.214657263G>C | CA344857255 | CENPF | c.8639G>C (p.Trp2880Ser) n.915G>C c.8816G>C (p.Trp2939Ser) n.587G>C c.7751G>C (p.Trp2584Ser) | |
| 1 | g.214657263G>T | CA344857251 | CENPF | c.8639G>T (p.Trp2880Leu) n.915G>T c.8816G>T (p.Trp2939Leu) n.587G>T c.7751G>T (p.Trp2584Leu) | |
| 1 | g.214657264G>A | CA344857257 | CENPF | c.8640G>A (p.Trp2880Ter) n.916G>A c.8817G>A (p.Trp2939Ter) n.588G>A c.7752G>A (p.Trp2584Ter) | gnomAD v4 |
| 1 | g.214657264G>C | CA344857261 | CENPF | c.8640G>C (p.Trp2880Cys) n.916G>C c.8817G>C (p.Trp2939Cys) n.588G>C c.7752G>C (p.Trp2584Cys) | |
| 1 | g.214657264G>T | CA344857259 | CENPF | c.8640G>T (p.Trp2880Cys) n.916G>T c.8817G>T (p.Trp2939Cys) n.588G>T c.7752G>T (p.Trp2584Cys) | |
| 1 | g.214657265G>A | CA344857263 | CENPF | c.8641G>A (p.Glu2881Lys) n.917G>A c.8818G>A (p.Glu2940Lys) n.589G>A c.7753G>A (p.Glu2585Lys) | |
| 1 | g.214657265G>C | CA1391501 | CENPF | c.8641G>C (p.Glu2881Gln) n.917G>C c.8818G>C (p.Glu2940Gln) n.589G>C c.7753G>C (p.Glu2585Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657265G= | CA1144880928 | CENPF | c.8641G= (p.Glu2881=) n.917G= c.8818G= (p.Glu2940=) n.589G= c.7753G= (p.Glu2585=) | |
| 1 | g.214657265G>T | CA344857266 | CENPF | c.8641G>T (p.Glu2881Ter) n.917G>T c.8818G>T (p.Glu2940Ter) n.589G>T c.7753G>T (p.Glu2585Ter) | |
| 1 | g.214657266A>C | CA344857267 | CENPF | c.8642A>C (p.Glu2881Ala) n.918A>C c.8819A>C (p.Glu2940Ala) n.590A>C c.7754A>C (p.Glu2585Ala) | |
| 1 | g.214657266A>G | CA344857269 | CENPF | c.8642A>G (p.Glu2881Gly) n.918A>G c.8819A>G (p.Glu2940Gly) n.590A>G c.7754A>G (p.Glu2585Gly) | gnomAD v4 |
| 1 | g.214657266A>T | CA344857272 | CENPF | c.8642A>T (p.Glu2881Val) n.918A>T c.8819A>T (p.Glu2940Val) n.590A>T c.7754A>T (p.Glu2585Val) | |
| 1 | g.214657267G>A | CA423429876 | CENPF | c.8643G>A (p.Glu2881=) n.919G>A c.8820G>A (p.Glu2940=) n.591G>A c.7755G>A (p.Glu2585=) | |
| 1 | g.214657267G>C | CA344857275 | CENPF | c.8643G>C (p.Glu2881Asp) n.919G>C c.8820G>C (p.Glu2940Asp) n.591G>C c.7755G>C (p.Glu2585Asp) | |
| 1 | g.214657267G>T | CA344857277 | CENPF | c.8643G>T (p.Glu2881Asp) n.919G>T c.8820G>T (p.Glu2940Asp) n.591G>T c.7755G>T (p.Glu2585Asp) | COSMIC |
| 1 | g.214657268A>C | CA344857279 | CENPF | c.8644A>C (p.Asn2882His) n.920A>C c.8821A>C (p.Asn2941His) n.592A>C c.7756A>C (p.Asn2586His) | |
| 1 | g.214657268A>G | CA344857280 | CENPF | c.8644A>G (p.Asn2882Asp) n.920A>G c.8821A>G (p.Asn2941Asp) n.592A>G c.7756A>G (p.Asn2586Asp) | |
| 1 | g.214657268A>T | CA344857281 | CENPF | c.8644A>T (p.Asn2882Tyr) n.920A>T c.8821A>T (p.Asn2941Tyr) n.592A>T c.7756A>T (p.Asn2586Tyr) | |
| 1 | g.214657269A= | CA1143412619 | CENPF | c.8645A= (p.Asn2882=) n.921A= c.8822A= (p.Asn2941=) n.593A= c.7757A= (p.Asn2586=) | |
| 1 | g.214657269A>C | CA344857286 | CENPF | c.8645A>C (p.Asn2882Thr) n.921A>C c.8822A>C (p.Asn2941Thr) n.593A>C c.7757A>C (p.Asn2586Thr) | |
| 1 | g.214657269A>G | CA1391502 | CENPF | c.8645A>G (p.Asn2882Ser) n.921A>G c.8822A>G (p.Asn2941Ser) n.593A>G c.7757A>G (p.Asn2586Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657269A>T | CA344857283 | CENPF | c.8645A>T (p.Asn2882Ile) n.921A>T c.8822A>T (p.Asn2941Ile) n.593A>T c.7757A>T (p.Asn2586Ile) | |
| 1 | g.214657270T>A | CA344857288 | CENPF | c.8646T>A (p.Asn2882Lys) n.922T>A c.8823T>A (p.Asn2941Lys) n.594T>A c.7758T>A (p.Asn2586Lys) | |
| 1 | g.214657270T>C | CA423429881 | CENPF | c.8646T>C (p.Asn2882=) n.922T>C c.8823T>C (p.Asn2941=) n.594T>C c.7758T>C (p.Asn2586=) | |
| 1 | g.214657270T>G | CA344857290 | CENPF | c.8646T>G (p.Asn2882Lys) n.922T>G c.8823T>G (p.Asn2941Lys) n.594T>G c.7758T>G (p.Asn2586Lys) | |
| 1 | g.214657271G>A | CA344857292 | CENPF | c.8647G>A (p.Gly2883Ser) n.923G>A c.8824G>A (p.Gly2942Ser) n.595G>A c.7759G>A (p.Gly2587Ser) | |
| 1 | g.214657271G>C | CA344857294 | CENPF | c.8647G>C (p.Gly2883Arg) n.923G>C c.8824G>C (p.Gly2942Arg) n.595G>C c.7759G>C (p.Gly2587Arg) | |
| 1 | g.214657271G>T | CA344857295 | CENPF | c.8647G>T (p.Gly2883Cys) n.923G>T c.8824G>T (p.Gly2942Cys) n.595G>T c.7759G>T (p.Gly2587Cys) | |
| 1 | g.214657272G>A | CA344857297 | CENPF | c.8648G>A (p.Gly2883Asp) n.924G>A c.8825G>A (p.Gly2942Asp) n.596G>A c.7760G>A (p.Gly2587Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.214657272G>C | CA1391503 | CENPF | c.8648G>C (p.Gly2883Ala) n.924G>C c.8825G>C (p.Gly2942Ala) n.596G>C c.7760G>C (p.Gly2587Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657272G= | CA2486377677 | CENPF | c.8648G= (p.Gly2883=) n.924G= c.8825G= (p.Gly2942=) n.596G= c.7760G= (p.Gly2587=) | |
| 1 | g.214657272G>T | CA344857298 | CENPF | c.8648G>T (p.Gly2883Val) n.924G>T c.8825G>T (p.Gly2942Val) n.596G>T c.7760G>T (p.Gly2587Val) | |
| 1 | g.214657273T>A | CA423429887 | CENPF | c.8649T>A (p.Gly2883=) n.925T>A c.8826T>A (p.Gly2942=) n.597T>A c.7761T>A (p.Gly2587=) | |
| 1 | g.214657273T>C | CA423429888 | CENPF | c.8649T>C (p.Gly2883=) n.925T>C c.8826T>C (p.Gly2942=) n.597T>C c.7761T>C (p.Gly2587=) | gnomAD v4 |
| 1 | g.214657273T>G | CA423429889 | CENPF | c.8649T>G (p.Gly2883=) n.925T>G c.8826T>G (p.Gly2942=) n.597T>G c.7761T>G (p.Gly2587=) | |
| 1 | g.214657274A= | CA1139796882 | CENPF | c.8650A= (p.Arg2884=) n.926A= c.8827A= (p.Arg2943=) n.598A= c.7762A= (p.Arg2588=) | |
| 1 | g.214657274A>C | CA423429891 | CENPF | c.8650A>C (p.Arg2884=) n.926A>C c.8827A>C (p.Arg2943=) n.598A>C c.7762A>C (p.Arg2588=) | dbSNP |
| 1 | g.214657274A>G | CA1391504 | CENPF | c.8650A>G (p.Arg2884Gly) n.926A>G c.8827A>G (p.Arg2943Gly) n.598A>G c.7762A>G (p.Arg2588Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.214657274A>T | CA344857301 | CENPF | c.8650A>T (p.Arg2884Ter) n.926A>T c.8827A>T (p.Arg2943Ter) n.598A>T c.7762A>T (p.Arg2588Ter) | dbSNP |
| 1 | g.214657275G>A | CA344857303 | CENPF | c.8651G>A (p.Arg2884Lys) n.927G>A c.8828G>A (p.Arg2943Lys) n.599G>A c.7763G>A (p.Arg2588Lys) | |
| 1 | g.214657275G>C | CA344857305 | CENPF | c.8651G>C (p.Arg2884Thr) n.927G>C c.8828G>C (p.Arg2943Thr) n.599G>C c.7763G>C (p.Arg2588Thr) | |
| 1 | g.214657275G>T | CA344857307 | CENPF | c.8651G>T (p.Arg2884Ile) n.927G>T c.8828G>T (p.Arg2943Ile) n.599G>T c.7763G>T (p.Arg2588Ile) | |
| 1 | g.214657276A>C | CA344857309 | CENPF | c.8652A>C (p.Arg2884Ser) n.928A>C c.8829A>C (p.Arg2943Ser) n.600A>C c.7764A>C (p.Arg2588Ser) | gnomAD v4 |
| 1 | g.214657276A>G | CA423429897 | CENPF | c.8652A>G (p.Arg2884=) n.928A>G c.8829A>G (p.Arg2943=) n.600A>G c.7764A>G (p.Arg2588=) | |
| 1 | g.214657276A>T | CA344857310 | CENPF | c.8652A>T (p.Arg2884Ser) n.928A>T c.8829A>T (p.Arg2943Ser) n.600A>T c.7764A>T (p.Arg2588Ser) | |
| 1 | g.214657277G>A | CA344857314 | CENPF | c.8653G>A (p.Gly2885Arg) n.929G>A c.8830G>A (p.Gly2944Arg) n.601G>A c.7765G>A (p.Gly2589Arg) | |
| 1 | g.214657277G>C | CA344857316 | CENPF | c.8653G>C (p.Gly2885Arg) n.929G>C c.8830G>C (p.Gly2944Arg) n.601G>C c.7765G>C (p.Gly2589Arg) | |
| 1 | g.214657277G>T | CA344857317 | CENPF | c.8653G>T (p.Gly2885Ter) n.929G>T c.8830G>T (p.Gly2944Ter) n.601G>T c.7765G>T (p.Gly2589Ter) | |
| 1 | g.214657278G>A | CA344857319 | CENPF | c.8654G>A (p.Gly2885Glu) n.930G>A c.8831G>A (p.Gly2944Glu) n.602G>A c.7766G>A (p.Gly2589Glu) | |
| 1 | g.214657278G>C | CA344857320 | CENPF | c.8654G>C (p.Gly2885Ala) n.930G>C c.8831G>C (p.Gly2944Ala) n.602G>C c.7766G>C (p.Gly2589Ala) | |
| 1 | g.214657278G>T | CA344857322 | CENPF | c.8654G>T (p.Gly2885Val) n.930G>T c.8831G>T (p.Gly2944Val) n.602G>T c.7766G>T (p.Gly2589Val) | |
| 1 | g.214657279A>C | CA423429901 | CENPF | c.8655A>C (p.Gly2885=) n.931A>C c.8832A>C (p.Gly2944=) n.603A>C c.7767A>C (p.Gly2589=) | |
| 1 | g.214657279A>G | CA423429902 | CENPF | c.8655A>G (p.Gly2885=) n.931A>G c.8832A>G (p.Gly2944=) n.603A>G c.7767A>G (p.Gly2589=) | |
| 1 | g.214657279A>T | CA423429903 | CENPF | c.8655A>T (p.Gly2885=) n.931A>T c.8832A>T (p.Gly2944=) n.603A>T c.7767A>T (p.Gly2589=) | |
| 1 | g.214657280C>A | CA344857323 | CENPF | c.8656C>A (p.Pro2886Thr) n.932C>A c.8833C>A (p.Pro2945Thr) n.604C>A c.7768C>A (p.Pro2590Thr) | |
| 1 | g.214657280C>G | CA344857324 | CENPF | c.8656C>G (p.Pro2886Ala) n.932C>G c.8833C>G (p.Pro2945Ala) n.604C>G c.7768C>G (p.Pro2590Ala) | |
| 1 | g.214657280C>T | CA344857325 | CENPF | c.8656C>T (p.Pro2886Ser) n.932C>T c.8833C>T (p.Pro2945Ser) n.604C>T c.7768C>T (p.Pro2590Ser) | gnomAD v4 |
| 1 | g.214657281C>A | CA37381331 | CENPF | c.8657C>A (p.Pro2886Gln) n.933C>A c.8834C>A (p.Pro2945Gln) n.605C>A c.7769C>A (p.Pro2590Gln) | dbSNP gnomAD v4 |
| 1 | g.214657281C= | CA2486377678 | CENPF | c.8657C= (p.Pro2886=) n.933C= c.8834C= (p.Pro2945=) n.605C= c.7769C= (p.Pro2590=) | |
| 1 | g.214657281C>G | CA344857326 | CENPF | c.8657C>G (p.Pro2886Arg) n.933C>G c.8834C>G (p.Pro2945Arg) n.605C>G c.7769C>G (p.Pro2590Arg) | |
| 1 | g.214657281C>T | CA344857327 | CENPF | c.8657C>T (p.Pro2886Leu) n.933C>T c.8834C>T (p.Pro2945Leu) n.605C>T c.7769C>T (p.Pro2590Leu) |