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 |
|---|---|---|---|---|---|
| 12 | g.48966011C>A | CA2618596043 | WNT10B | c.*84G>T (n.*84G>T) c.*536G>T (n.*536G>T) | gnomAD v4 |
| 12 | g.48966011C= | CA2034911708 | WNT10B | c.*84G= (n.*84G=) c.*536G= (n.*536G=) | |
| 12 | g.48966011C>T | CA236626452 | WNT10B | c.*84G>A (n.*84G>A) c.*536G>A (n.*536G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.48966013T>G | CA2618596044 | WNT10B | c.*82A>C (n.*82A>C) c.*534A>C (n.*534A>C) | gnomAD v4 |
| 12 | g.48966014T>A | CA2618596045 | WNT10B | c.*81A>T (n.*81A>T) c.*533A>T (n.*533A>T) | gnomAD v4 |
| 12 | g.48966014T>C | CA2618596046 | WNT10B | c.*81A>G (n.*81A>G) c.*533A>G (n.*533A>G) | gnomAD v4 |
| 12 | g.48966015G>T | CA2575143602 | WNT10B | c.*80C>A (n.*80C>A) c.*532C>A (n.*532C>A) | gnomAD v4 |
| 12 | g.48966017_48966035dup | CA2618596047 | WNT10B | c.*62_*80dup (n.*62_*80dup) c.*514_*532dup (n.*514_*532dup) | gnomAD v4 |
| 12 | g.48966016G>C | CA236626454 | WNT10B | c.*79C>G (n.*79C>G) c.*531C>G (n.*531C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.48966016G= | CA2034911712 | WNT10B | c.*79C= (n.*79C=) c.*531C= (n.*531C=) | |
| 12 | g.48966016G>T | CA2618596048 | WNT10B | c.*79C>A (n.*79C>A) c.*531C>A (n.*531C>A) | gnomAD v4 |
| 12 | g.48966017A>G | CA2618596049 | WNT10B | c.*78T>C (n.*78T>C) c.*530T>C (n.*530T>C) | gnomAD v4 |
| 12 | g.48966018A= | CA2034911714 | WNT10B | c.*77T= (n.*77T=) c.*529T= (n.*529T=) | |
| 12 | g.48966018A>C | CA2034911715 | WNT10B | c.*77T>G (n.*77T>G) c.*529T>G (n.*529T>G) | dbSNP gnomAD v4 |
| 12 | g.48966019G>A | CA2034911717 | WNT10B | c.*76C>T (n.*76C>T) c.*528C>T (n.*528C>T) | dbSNP gnomAD v4 |
| 12 | g.48966019G= | CA2034911716 | WNT10B | c.*76C= (n.*76C=) c.*528C= (n.*528C=) | |
| 12 | g.48966019G>T | CA2575143603 | WNT10B | c.*76C>A (n.*76C>A) c.*528C>A (n.*528C>A) | gnomAD v4 |
| 12 | g.48966020G>A | CA2618596050 | WNT10B | c.*75C>T (n.*75C>T) c.*527C>T (n.*527C>T) | gnomAD v4 |
| 12 | g.48966020G>T | CA2618596051 | WNT10B | c.*75C>A (n.*75C>A) c.*527C>A (n.*527C>A) | gnomAD v4 |
| 12 | g.48966021A>G | CA2618596053 | WNT10B | c.*74T>C (n.*74T>C) c.*526T>C (n.*526T>C) | gnomAD v4 |
| 12 | g.48966021A>T | CA2618596052 | WNT10B | c.*74T>A (n.*74T>A) c.*526T>A (n.*526T>A) | gnomAD v4 |
| 12 | g.48966022A= | CA2034911718 | WNT10B | c.*73T= (n.*73T=) c.*525T= (n.*525T=) | |
| 12 | g.48966022A>T | CA2034911719 | WNT10B | c.*73T>A (n.*73T>A) c.*525T>A (n.*525T>A) | dbSNP gnomAD v4 |
| 12 | g.48966023A>G | CA2618596054 | WNT10B | c.*72T>C (n.*72T>C) c.*524T>C (n.*524T>C) | gnomAD v4 |
| 12 | g.48966024T>A | CA2618596055 | WNT10B | c.*71A>T (n.*71A>T) c.*523A>T (n.*523A>T) | gnomAD v4 |
| 12 | g.48966024T>G | CA2618596056 | WNT10B | c.*71A>C (n.*71A>C) c.*523A>C (n.*523A>C) | gnomAD v4 |
| 12 | g.48966025C>A | CA2618596057 | WNT10B | c.*70G>T (n.*70G>T) c.*522G>T (n.*522G>T) | gnomAD v4 |
| 12 | g.48966026A>C | CA2575143604 | WNT10B | c.*69T>G (n.*69T>G) c.*521T>G (n.*521T>G) | gnomAD v4 |
| 12 | g.48966026A>T | CA2618596058 | WNT10B | c.*69T>A (n.*69T>A) c.*521T>A (n.*521T>A) | gnomAD v4 |
| 12 | g.48966027G>A | CA2575143605 | WNT10B | c.*68C>T (n.*68C>T) c.*520C>T (n.*520C>T) | gnomAD v4 |
| 12 | g.48966027G>T | CA2618596059 | WNT10B | c.*68C>A (n.*68C>A) c.*520C>A (n.*520C>A) | gnomAD v4 |
| 12 | g.48966029G>T | CA2618596060 | WNT10B | c.*66C>A (n.*66C>A) c.*518C>A (n.*518C>A) | gnomAD v4 |
| 12 | g.48966030C>A | CA2618596061 | WNT10B | c.*65G>T (n.*65G>T) c.*517G>T (n.*517G>T) | gnomAD v4 |
| 12 | g.48966030C>T | CA2618596062 | WNT10B | c.*65G>A (n.*65G>A) c.*517G>A (n.*517G>A) | gnomAD v4 |
| 12 | g.48966031A= | CA2034911720 | WNT10B | c.*64T= (n.*64T=) c.*516T= (n.*516T=) | |
| 12 | g.48966031A>G | CA236626456 | WNT10B | c.*64T>C (n.*64T>C) c.*516T>C (n.*516T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.48966031A>T | CA2618596064 | WNT10B | c.*64T>A (n.*64T>A) c.*516T>A (n.*516T>A) | gnomAD v4 |
| 12 | g.48966033del | CA2618596063 | WNT10B | c.*64del (n.*64del) c.*516del (n.*516del) | gnomAD v4 |
| 12 | g.48966032A>C | CA2618596065 | WNT10B | c.*63T>G (n.*63T>G) c.*515T>G (n.*515T>G) | gnomAD v4 |
| 12 | g.48966033A>G | CA2618596066 | WNT10B | c.*62T>C (n.*62T>C) c.*514T>C (n.*514T>C) | gnomAD v4 |
| 12 | g.48966034G>T | CA2618596067 | WNT10B | c.*61C>A (n.*61C>A) c.*513C>A (n.*513C>A) | gnomAD v4 |
| 12 | g.48966035G>T | CA2618596068 | WNT10B | c.*60C>A (n.*60C>A) c.*512C>A (n.*512C>A) | gnomAD v4 |
| 12 | g.48966036G>T | CA2618596069 | WNT10B | c.*59C>A (n.*59C>A) c.*511C>A (n.*511C>A) | gnomAD v4 |
| 12 | g.48966037C>A | CA2618596070 | WNT10B | c.*58G>T (n.*58G>T) c.*510G>T (n.*510G>T) | gnomAD v4 |
| 12 | g.48966037C= | CA2034911722 | WNT10B | c.*58G= (n.*58G=) c.*510G= (n.*510G=) | |
| 12 | g.48966037C>T | CA2034911723 | WNT10B | c.*58G>A (n.*58G>A) c.*510G>A (n.*510G>A) | dbSNP gnomAD v4 |
| 12 | g.48966038T>C | CA2575143606 | WNT10B | c.*57A>G (n.*57A>G) c.*509A>G (n.*509A>G) | |
| 12 | g.48966039G>T | CA2618596071 | WNT10B | c.*56C>A (n.*56C>A) c.*508C>A (n.*508C>A) | gnomAD v4 |
| 12 | g.48966040A>G | CA2726308233 | WNT10B | c.*55T>C (n.*55T>C) c.*507T>C (n.*507T>C) | dbSNP |
| 12 | g.48966043del | CA2618596072 | WNT10B | c.*55del (n.*55del) c.*507del (n.*507del) | gnomAD v4 |
| 12 | g.48966043A>G | CA2618596073 | WNT10B | c.*52T>C (n.*52T>C) c.*504T>C (n.*504T>C) | gnomAD v4 |
| 12 | g.48966044G>T | CA2618596074 | WNT10B | c.*51C>A (n.*51C>A) c.*503C>A (n.*503C>A) | gnomAD v4 |
| 12 | g.48966045G>T | CA2618596075 | WNT10B | c.*50C>A (n.*50C>A) c.*502C>A (n.*502C>A) | gnomAD v4 |
| 12 | g.48966046C>A | CA2618596076 | WNT10B | c.*49G>T (n.*49G>T) c.*501G>T (n.*501G>T) | gnomAD v4 |
| 12 | g.48966046C= | CA2034911725 | WNT10B | c.*49G= (n.*49G=) c.*501G= (n.*501G=) | |
| 12 | g.48966046C>T | CA6544017 | WNT10B | c.*49G>A (n.*49G>A) c.*501G>A (n.*501G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.48966047G>A | CA6544018 | WNT10B | c.*48C>T (n.*48C>T) c.*500C>T (n.*500C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.48966047G>C | CA2618596077 | WNT10B | c.*48C>G (n.*48C>G) c.*500C>G (n.*500C>G) | gnomAD v4 |
| 12 | g.48966047G= | CA2034911727 | WNT10B | c.*48C= (n.*48C=) c.*500C= (n.*500C=) | |
| 12 | g.48966047G>T | CA2618596078 | WNT10B | c.*48C>A (n.*48C>A) c.*500C>A (n.*500C>A) | gnomAD v4 |
| 12 | g.48966048C>T | CA2618596079 | WNT10B | c.*47G>A (n.*47G>A) c.*499G>A (n.*499G>A) | gnomAD v4 |
| 12 | g.48966051del | CA2575143607 | WNT10B | c.*47del (n.*47del) c.*499del (n.*499del) | |
| 12 | g.48966049C>A | CA947437880 | WNT10B | c.*46G>T (n.*46G>T) c.*498G>T (n.*498G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.48966049C= | CA2034911728 | WNT10B | c.*46G= (n.*46G=) c.*498G= (n.*498G=) | |
| 12 | g.48966049C>T | CA2618596080 | WNT10B | c.*46G>A (n.*46G>A) c.*498G>A (n.*498G>A) | gnomAD v4 |
| 12 | g.48966050C>G | CA2618596081 | WNT10B | c.*45G>C (n.*45G>C) c.*497G>C (n.*497G>C) | gnomAD v4 |
| 12 | g.48966051C>T | CA2618596082 | WNT10B | c.*44G>A (n.*44G>A) c.*496G>A (n.*496G>A) | gnomAD v4 |
| 12 | g.48966054T>C | CA689532864 | WNT10B | c.*41A>G (n.*41A>G) c.*493A>G (n.*493A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.48966054T= | CA2034911731 | WNT10B | c.*41A= (n.*41A=) c.*493A= (n.*493A=) | |
| 12 | g.48966054_48966055delinsTC | CA2034911730 | WNT10B | c.*40_*41delinsGA (n.*40_*41delinsGA) c.*492_*493delinsGA (n.*492_*493delinsGA) | |
| 12 | g.48966055del | CA2034911732 | WNT10B | c.*40del (n.*40del) c.*492del (n.*492del) | dbSNP |
| 12 | g.48966055C>A | CA2618596084 | WNT10B | c.*40G>T (n.*40G>T) c.*492G>T (n.*492G>T) | gnomAD v4 |
| 12 | g.48966055C>G | CA2618596083 | WNT10B | c.*40G>C (n.*40G>C) c.*492G>C (n.*492G>C) | gnomAD v4 |
| 12 | g.48966056A= | CA2034911733 | WNT10B | c.*39T= (n.*39T=) c.*491T= (n.*491T=) | |
| 12 | g.48966056A>T | CA947437883 | WNT10B | c.*39T>A (n.*39T>A) c.*491T>A (n.*491T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.48966059C>T | CA2618596085 | WNT10B | c.*36G>A (n.*36G>A) c.*488G>A (n.*488G>A) | gnomAD v4 |
| 12 | g.48966060A= | CA2034911734 | WNT10B | c.*35T= (n.*35T=) c.*487T= (n.*487T=) | |
| 12 | g.48966060A>C | CA2034911735 | WNT10B | c.*35T>G (n.*35T>G) c.*487T>G (n.*487T>G) | dbSNP |
| 12 | g.48966060A>G | CA2618596086 | WNT10B | c.*35T>C (n.*35T>C) c.*487T>C (n.*487T>C) | gnomAD v4 |
| 12 | g.48966061G>A | CA2618596087 | WNT10B | c.*34C>T (n.*34C>T) c.*486C>T (n.*486C>T) | gnomAD v4 |
| 12 | g.48966061G>T | CA2618596088 | WNT10B | c.*34C>A (n.*34C>A) c.*486C>A (n.*486C>A) | gnomAD v4 |
| 12 | g.48966063C= | CA2034911736 | WNT10B | c.*32G= (n.*32G=) c.*484G= (n.*484G=) | |
| 12 | g.48966063C>G | CA2034911738 | WNT10B | c.*32G>C (n.*32G>C) c.*484G>C (n.*484G>C) | dbSNP gnomAD v4 |
| 12 | g.48966063C>T | CA2618596089 | WNT10B | c.*32G>A (n.*32G>A) c.*484G>A (n.*484G>A) | gnomAD v4 |
| 12 | g.48966064C= | CA2034911739 | WNT10B | c.*31G= (n.*31G=) c.*483G= (n.*483G=) | |
| 12 | g.48966064C>T | CA2034911740 | WNT10B | c.*31G>A (n.*31G>A) c.*483G>A (n.*483G>A) | dbSNP |
| 12 | g.48966066_48966067insG | CA654731926 | WNT10B | c.*28_*29insC (n.*28_*29insC) c.*480_*481insC (n.*480_*481insC) | COSMIC |
| 12 | g.48966067T>C | CA605233217 | WNT10B | c.*28A>G (n.*28A>G) c.*480A>G (n.*480A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.48966067T= | CA2034911741 | WNT10B | c.*28A= (n.*28A=) c.*480A= (n.*480A=) | |
| 12 | g.48966068T>C | CA2506928263 | WNT10B | c.*27A>G (n.*27A>G) c.*479A>G (n.*479A>G) | |
| 12 | g.48966069C>A | CA6544019 | WNT10B | c.*26G>T (n.*26G>T) c.*478G>T (n.*478G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.48966069C= | CA2034911744 | WNT10B | c.*26G= (n.*26G=) c.*478G= (n.*478G=) | |
| 12 | g.48966069C>T | CA2034911743 | WNT10B | c.*26G>A (n.*26G>A) c.*478G>A (n.*478G>A) | dbSNP gnomAD v4 |
| 12 | g.48966070C>A | CA2034911747 | WNT10B | c.*25G>T (n.*25G>T) c.*477G>T (n.*477G>T) | dbSNP gnomAD v4 |
| 12 | g.48966070C= | CA2034911745 | WNT10B | c.*25G= (n.*25G=) c.*477G= (n.*477G=) | |
| 12 | g.48966070C>T | CA605233218 | WNT10B | c.*25G>A (n.*25G>A) c.*477G>A (n.*477G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.48966071C>A | CA2618596090 | WNT10B | c.*24G>T (n.*24G>T) c.*476G>T (n.*476G>T) | gnomAD v4 |
| 12 | g.48966073A= | CA2034911748 | WNT10B | c.*22T= (n.*22T=) c.*474T= (n.*474T=) | |
| 12 | g.48966073A>G | CA6544020 | WNT10B | c.*22T>C (n.*22T>C) c.*474T>C (n.*474T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.48966074G>A | CA2575143608 | WNT10B | c.*21C>T (n.*21C>T) c.*473C>T (n.*473C>T) | |
| 12 | g.48966074G>T | CA2618596091 | WNT10B | c.*21C>A (n.*21C>A) c.*473C>A (n.*473C>A) | gnomAD v4 |
| 12 | g.48966075C>A | CA2618596092 | WNT10B | c.*20G>T (n.*20G>T) c.*472G>T (n.*472G>T) | gnomAD v4 |
| 12 | g.48966075C= | CA2034911750 | WNT10B | c.*20G= (n.*20G=) c.*472G= (n.*472G=) | |
| 12 | g.48966075C>T | CA605233219 | WNT10B | c.*20G>A (n.*20G>A) c.*472G>A (n.*472G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.48966078del | CA2618596093 | WNT10B | c.*20del (n.*20del) c.*472del (n.*472del) | gnomAD v4 |
| 12 | g.48966077C>A | CA6544021 | WNT10B | c.*18G>T (n.*18G>T) c.*470G>T (n.*470G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.48966077C= | CA2034911751 | WNT10B | c.*18G= (n.*18G=) c.*470G= (n.*470G=) | |
| 12 | g.48966077C>G | CA2618596094 | WNT10B | c.*18G>C (n.*18G>C) c.*470G>C (n.*470G>C) | gnomAD v4 |
| 12 | g.48966077C>T | CA2618596095 | WNT10B | c.*18G>A (n.*18G>A) c.*470G>A (n.*470G>A) | gnomAD v4 |
| 12 | g.48966078C>A | CA2526390634 | WNT10B | c.*17G>T (n.*17G>T) c.*469G>T (n.*469G>T) | |
| 12 | g.48966078C>T | CA2618596096 | WNT10B | c.*17G>A (n.*17G>A) c.*469G>A (n.*469G>A) | gnomAD v4 |
| 12 | g.48966080A= | CA2034911752 | WNT10B | c.*15T= (n.*15T=) c.*467T= (n.*467T=) | |
| 12 | g.48966080A>G | CA605233220 | WNT10B | c.*15T>C (n.*15T>C) c.*467T>C (n.*467T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.48966080A>T | CA2618596097 | WNT10B | c.*15T>A (n.*15T>A) c.*467T>A (n.*467T>A) | gnomAD v4 |
| 12 | g.48966081G>A | CA2034911755 | WNT10B | c.*14C>T (n.*14C>T) c.*466C>T (n.*466C>T) | dbSNP |
| 12 | g.48966081G= | CA2034911754 | WNT10B | c.*14C= (n.*14C=) c.*466C= (n.*466C=) | |
| 12 | g.48966082G>A | CA2618596098 | WNT10B | c.*13C>T (n.*13C>T) c.*465C>T (n.*465C>T) | gnomAD v4 |
| 12 | g.48966082G>C | CA2618596099 | WNT10B | c.*13C>G (n.*13C>G) c.*465C>G (n.*465C>G) | gnomAD v4 |
| 12 | g.48966082G>T | CA2596225406 | WNT10B | c.*13C>A (n.*13C>A) c.*465C>A (n.*465C>A) | gnomAD v3 gnomAD v4 |
| 12 | g.48966087G>A | CA2618596100 | WNT10B | c.*8C>T (n.*8C>T) c.*460C>T (n.*460C>T) | gnomAD v4 |
| 12 | g.48966087G>C | CA2034911757 | WNT10B | c.*8C>G (n.*8C>G) c.*460C>G (n.*460C>G) | dbSNP |
| 12 | g.48966087G= | CA2034911756 | WNT10B | c.*8C= (n.*8C=) c.*460C= (n.*460C=) | |
| 12 | g.48966087G>T | CA2618596101 | WNT10B | c.*8C>A (n.*8C>A) c.*460C>A (n.*460C>A) | gnomAD v4 |
| 12 | g.48966091A= | CA2034911758 | WNT10B | c.*4T= (n.*4T=) c.*456T= (n.*456T=) | |
| 12 | g.48966091A>G | CA6544022 | WNT10B | c.*4T>C (n.*4T>C) c.*456T>C (n.*456T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.48966092C= | CA2034911760 | WNT10B | c.*3G= (n.*3G=) c.*455G= (n.*455G=) | |
| 12 | g.48966092C>T | CA605233222 | WNT10B | c.*3G>A (n.*3G>A) c.*455G>A (n.*455G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.48966094dup | CA605233221 | WNT10B | c.*3dup (n.*3dup) c.*455dup (n.*455dup) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.48966093C>T | CA2618596102 | WNT10B | c.*2G>A (n.*2G>A) c.*454G>A (n.*454G>A) | gnomAD v4 |
| 12 | g.48966094C>T | CA2795900369 | WNT10B | c.*1G>A (n.*1G>A) c.*453G>A (n.*453G>A) | |
| 12 | g.48966095T>A | CA384670637 | WNT10B | c.1170A>T (p.Ter390Cys) c.*452A>T (n.*452A>T) c.804A>T (p.Ter268Cys) | |
| 12 | g.48966095T>C | CA384670634 | WNT10B | c.1170A>G (p.Ter390Trp) c.*452A>G (n.*452A>G) c.804A>G (p.Ter268Trp) | |
| 12 | g.48966095T>G | CA384670646 | WNT10B | c.1170A>C (p.Ter390Cys) c.*452A>C (n.*452A>C) c.804A>C (p.Ter268Cys) | gnomAD v4 |
| 12 | g.48966096C>A | CA384670651 | WNT10B | c.1169G>T (p.Ter390Leu) c.*451G>T (n.*451G>T) c.803G>T (p.Ter268Leu) | |
| 12 | g.48966096C= | CA2034911763 | WNT10B | c.1169G= (p.Ter390=) c.*451G= (n.*451G=) c.803G= (p.Ter268=) | |
| 12 | g.48966096C>G | CA384670654 | WNT10B | c.1169G>C (p.Ter390Ser) c.*451G>C (n.*451G>C) c.803G>C (p.Ter268Ser) | |
| 12 | g.48966096C>T | CA479703436 | WNT10B | c.1169G>A (p.Ter390=) c.*451G>A (n.*451G>A) c.803G>A (p.Ter268=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.48966096_48966100delinsCACTT | CA2034911762 | WNT10B | c.1165_1169delinsAAGTG (p.Lys389=) c.*447_*451delinsAAGTG (n.*447_*451delinsAAGTG) c.799_803delinsAAGTG (p.Lys267=) | |
| 12 | g.48966097A= | CA2034911765 | WNT10B | c.1168T= (p.Ter390=) c.*450T= (n.*450T=) c.802T= (p.Ter268=) | |
| 12 | g.48966097A>C | CA6544024 | WNT10B | c.1168T>G (p.Ter390Gly) c.*450T>G (n.*450T>G) c.802T>G (p.Ter268Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.48966097A>G | CA384670664 | WNT10B | c.1168T>C (p.Ter390Arg) c.*450T>C (n.*450T>C) c.802T>C (p.Ter268Arg) | |
| 12 | g.48966097A>T | CA384670666 | WNT10B | c.1168T>A (p.Ter390Arg) c.*450T>A (n.*450T>A) c.802T>A (p.Ter268Arg) | |
| 12 | g.48966099_48966102del | CA6544023 | WNT10B | c.1165_1168del (p.Lys389GlufsTer?) c.*447_*450del (n.*447_*450del) c.799_802del (p.Lys267GlufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.48966098C>A | CA384670670 | WNT10B | c.1167G>T (p.Lys389Asn) c.*449G>T (n.*449G>T) c.801G>T (p.Lys267Asn) | |
| 12 | g.48966098C= | CA2034911766 | WNT10B | c.1167G= (p.Lys389=) c.*449G= (n.*449G=) c.801G= (p.Lys267=) | |
| 12 | g.48966098C>G | CA236626505 | WNT10B | c.1167G>C (p.Lys389Asn) c.*449G>C (n.*449G>C) c.801G>C (p.Lys267Asn) | dbSNP gnomAD v2 |
| 12 | g.48966098C>T | CA479703438 | WNT10B | c.1167G>A (p.Lys389=) c.*449G>A (n.*449G>A) c.801G>A (p.Lys267=) | gnomAD v4 |
| 12 | g.48966099T>A | CA384670676 | WNT10B | c.1166A>T (p.Lys389Met) c.*448A>T (n.*448A>T) c.800A>T (p.Lys267Met) | |
| 12 | g.48966099T>C | CA384670679 | WNT10B | c.1166A>G (p.Lys389Arg) c.*448A>G (n.*448A>G) c.800A>G (p.Lys267Arg) | COSMIC |
| 12 | g.48966099T>G | CA384670683 | WNT10B | c.1166A>C (p.Lys389Thr) c.*448A>C (n.*448A>C) c.800A>C (p.Lys267Thr) | |
| 12 | g.48966100T>A | CA384670687 | WNT10B | c.1165A>T (p.Lys389Ter) c.*447A>T (n.*447A>T) c.799A>T (p.Lys267Ter) | |
| 12 | g.48966100T>C | CA384670690 | WNT10B | c.1165A>G (p.Lys389Glu) c.*447A>G (n.*447A>G) c.799A>G (p.Lys267Glu) | |
| 12 | g.48966100T>G | CA384670693 | WNT10B | c.1165A>C (p.Lys389Gln) c.*447A>C (n.*447A>C) c.799A>C (p.Lys267Gln) | |
| 12 | g.48966101A>C | CA384670696 | WNT10B | c.1164T>G (p.Cys388Trp) c.*446T>G (n.*446T>G) c.798T>G (p.Cys266Trp) | |
| 12 | g.48966101A>G | CA479703441 | WNT10B | c.1164T>C (p.Cys388=) c.*446T>C (n.*446T>C) c.798T>C (p.Cys266=) | |
| 12 | g.48966101A>T | CA384670698 | WNT10B | c.1164T>A (p.Cys388Ter) c.*446T>A (n.*446T>A) c.798T>A (p.Cys266Ter) | |
| 12 | g.48966102C>A | CA384670709 | WNT10B | c.1163G>T (p.Cys388Phe) c.*445G>T (n.*445G>T) c.797G>T (p.Cys266Phe) | |
| 12 | g.48966102C>G | CA384670706 | WNT10B | c.1163G>C (p.Cys388Ser) c.*445G>C (n.*445G>C) c.797G>C (p.Cys266Ser) | |
| 12 | g.48966102C>T | CA384670702 | WNT10B | c.1163G>A (p.Cys388Tyr) c.*445G>A (n.*445G>A) c.797G>A (p.Cys266Tyr) | |
| 12 | g.48966103A= | CA2034911768 | WNT10B | c.1162T= (p.Cys388=) c.*444T= (n.*444T=) c.796T= (p.Cys266=) | |
| 12 | g.48966103A>C | CA384670713 | WNT10B | c.1162T>G (p.Cys388Gly) c.*444T>G (n.*444T>G) c.796T>G (p.Cys266Gly) | |
| 12 | g.48966103A>G | CA384670714 | WNT10B | c.1162T>C (p.Cys388Arg) c.*444T>C (n.*444T>C) c.796T>C (p.Cys266Arg) | dbSNP |
| 12 | g.48966103A>T | CA384670717 | WNT10B | c.1162T>A (p.Cys388Ser) c.*444T>A (n.*444T>A) c.796T>A (p.Cys266Ser) | |
| 12 | g.48966104C>A | CA479703446 | WNT10B | c.1161G>T (p.Val387=) c.*443G>T (n.*443G>T) c.795G>T (p.Val265=) | |
| 12 | g.48966104C= | CA2034911770 | WNT10B | c.1161G= (p.Val387=) c.*443G= (n.*443G=) c.795G= (p.Val265=) | |
| 12 | g.48966104C>G | CA479703448 | WNT10B | c.1161G>C (p.Val387=) c.*443G>C (n.*443G>C) c.795G>C (p.Val265=) | dbSNP |
| 12 | g.48966104C>T | CA479703447 | WNT10B | c.1161G>A (p.Val387=) c.*443G>A (n.*443G>A) c.795G>A (p.Val265=) | dbSNP |
| 12 | g.48966105del | CA2618596103 | WNT10B | c.1160del (p.Val387GlyfsTer?) c.*442del (n.*442del) c.794del (p.Val265GlyfsTer?) | gnomAD v4 |
| 12 | g.48966105A>C | CA384670722 | WNT10B | c.1160T>G (p.Val387Gly) c.*442T>G (n.*442T>G) c.794T>G (p.Val265Gly) | |
| 12 | g.48966105A>G | CA384670724 | WNT10B | c.1160T>C (p.Val387Ala) c.*442T>C (n.*442T>C) c.794T>C (p.Val265Ala) | |
| 12 | g.48966105A>T | CA384670727 | WNT10B | c.1160T>A (p.Val387Glu) c.*442T>A (n.*442T>A) c.794T>A (p.Val265Glu) | |
| 12 | g.48966106C>A | CA384670731 | WNT10B | c.1159G>T (p.Val387Leu) c.*441G>T (n.*441G>T) c.793G>T (p.Val265Leu) | |
| 12 | g.48966106C>G | CA384670734 | WNT10B | c.1159G>C (p.Val387Leu) c.*441G>C (n.*441G>C) c.793G>C (p.Val265Leu) | |
| 12 | g.48966106C>T | CA384670738 | WNT10B | c.1159G>A (p.Val387Met) c.*441G>A (n.*441G>A) c.793G>A (p.Val265Met) | |
| 12 | g.48966107A>C | CA384670741 | WNT10B | c.1158T>G (p.Asn386Lys) c.*440T>G (n.*440T>G) c.792T>G (p.Asn264Lys) | |
| 12 | g.48966107A>G | CA479703451 | WNT10B | c.1158T>C (p.Asn386=) c.*440T>C (n.*440T>C) c.792T>C (p.Asn264=) | dbSNP |
| 12 | g.48966107A>T | CA384670744 | WNT10B | c.1158T>A (p.Asn386Lys) c.*440T>A (n.*440T>A) c.792T>A (p.Asn264Lys) | |
| 12 | g.48966108T>A | CA384670754 | WNT10B | c.1157A>T (p.Asn386Ile) c.*439A>T (n.*439A>T) c.791A>T (p.Asn264Ile) | dbSNP |
| 12 | g.48966108T>C | CA384670751 | WNT10B | c.1157A>G (p.Asn386Ser) c.*439A>G (n.*439A>G) c.791A>G (p.Asn264Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.48966108T>G | CA384670748 | WNT10B | c.1157A>C (p.Asn386Thr) c.*439A>C (n.*439A>C) c.791A>C (p.Asn264Thr) | |
| 12 | g.48966108T= | CA2034911772 | WNT10B | c.1157A= (p.Asn386=) c.*439A= (n.*439A=) c.791A= (p.Asn264=) | |
| 12 | g.48966109T>A | CA384670757 | WNT10B | c.1156A>T (p.Asn386Tyr) c.*438A>T (n.*438A>T) c.790A>T (p.Asn264Tyr) | |
| 12 | g.48966109T>C | CA384670759 | WNT10B | c.1156A>G (p.Asn386Asp) c.*438A>G (n.*438A>G) c.790A>G (p.Asn264Asp) | |
| 12 | g.48966109T>G | CA384670762 | WNT10B | c.1156A>C (p.Asn386His) c.*438A>C (n.*438A>C) c.790A>C (p.Asn264His) | |
| 12 | g.48966110C>A | CA479703455 | WNT10B | c.1155G>T (p.Val385=) c.*437G>T (n.*437G>T) c.789G>T (p.Val263=) | |
| 12 | g.48966110C= | CA2034911774 | WNT10B | c.1155G= (p.Val385=) c.*437G= (n.*437G=) c.789G= (p.Val263=) | |
| 12 | g.48966110C>G | CA6544026 | WNT10B | c.1155G>C (p.Val385=) c.*437G>C (n.*437G>C) c.789G>C (p.Val263=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.48966110C>T | CA6544025 | WNT10B | c.1155G>A (p.Val385=) c.*437G>A (n.*437G>A) c.789G>A (p.Val263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.48966111del | CA2795900370 | WNT10B | c.1154del (p.Val385GlyfsTer?) c.*436del (n.*436del) c.788del (p.Val263GlyfsTer?) | |
| 12 | g.48966111A>C | CA384670779 | WNT10B | c.1154T>G (p.Val385Gly) c.*436T>G (n.*436T>G) c.788T>G (p.Val263Gly) | |
| 12 | g.48966111A>G | CA384670776 | WNT10B | c.1154T>C (p.Val385Ala) c.*436T>C (n.*436T>C) c.788T>C (p.Val263Ala) | |
| 12 | g.48966111A>T | CA384670772 | WNT10B | c.1154T>A (p.Val385Glu) c.*436T>A (n.*436T>A) c.788T>A (p.Val263Glu) |