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.168293135C= | CA1205614121 | TBX19 | c.469-9C= (n.469-9C=) c.266-9C= | |
| 1 | g.168293135C>T | CA1205614122 | TBX19 | c.469-9C>T (n.469-9C>T) c.266-9C>T | dbSNP |
| 1 | g.168293137T>A | CA1230508 | TBX19 | c.469-7T>A (n.469-7T>A) c.266-7T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293137T= | CA1143841682 | TBX19 | c.469-7T= (n.469-7T=) c.266-7T= | |
| 1 | g.168293138C= | CA1143958450 | TBX19 | c.469-6C= (n.469-6C=) c.266-6C= | |
| 1 | g.168293138C>G | CA2574084055 | TBX19 | c.469-6C>G (n.469-6C>G) c.266-6C>G | gnomAD v4 |
| 1 | g.168293138C>T | CA31493262 | TBX19 | c.469-6C>T (n.469-6C>T) c.266-6C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293139G>A | CA1230509 | TBX19 | c.469-5G>A (n.469-5G>A) c.266-5G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.168293139G>C | CA2574084056 | TBX19 | c.469-5G>C (n.469-5G>C) c.266-5G>C | |
| 1 | g.168293139G= | CA1205614123 | TBX19 | c.469-5G= (n.469-5G=) c.266-5G= | |
| 1 | g.168293139G>T | CA2649007502 | TBX19 | c.469-5G>T (n.469-5G>T) c.266-5G>T | gnomAD v4 |
| 1 | g.168293140A= | CA1205614124 | TBX19 | c.469-4A= (n.469-4A=) c.266-4A= | |
| 1 | g.168293140A>G | CA527130755 | TBX19 | c.469-4A>G (n.469-4A>G) c.266-4A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293141C>A | CA645520094 | TBX19 | c.469-3C>A (n.469-3C>A) c.266-3C>A | gnomAD v4 COSMIC |
| 1 | g.168293141C>T | CA2574084057 | TBX19 | c.469-3C>T (n.469-3C>T) c.266-3C>T | gnomAD v4 |
| 1 | g.168293142A>C | CA343106828 | TBX19 | c.469-2A>C (n.469-2A>C) c.266-2A>C | |
| 1 | g.168293142A>G | CA343106829 | TBX19 | c.469-2A>G (n.469-2A>G) c.266-2A>G | |
| 1 | g.168293142A>T | CA343106830 | TBX19 | c.469-2A>T (n.469-2A>T) c.266-2A>T | |
| 1 | g.168293143G>A | CA1230510 | TBX19 | c.469-1G>A (n.469-1G>A) c.266-1G>A | dbSNP ExAC gnomAD v2 |
| 1 | g.168293143G>C | CA343106831 | TBX19 | c.469-1G>C (n.469-1G>C) c.266-1G>C | COSMIC |
| 1 | g.168293143G= | CA1205614125 | TBX19 | c.469-1G= (n.469-1G=) c.266-1G= | |
| 1 | g.168293143G>T | CA343106832 | TBX19 | c.469-1G>T (n.469-1G>T) c.266-1G>T | |
| 1 | g.168293144A>C | CA343106834 | TBX19 | c.469A>C (p.Ile157Leu) c.266A>C | |
| 1 | g.168293144A>G | CA343106835 | TBX19 | c.469A>G (p.Ile157Val) c.266A>G | |
| 1 | g.168293144A>T | CA343106833 | TBX19 | c.469A>T (p.Ile157Leu) c.266A>T | |
| 1 | g.168293145T>A | CA343106837 | TBX19 | c.470T>A (p.Ile157Lys) c.267T>A | |
| 1 | g.168293145T>C | CA343106836 | TBX19 | c.470T>C (p.Ile157Thr) c.267T>C | gnomAD v4 |
| 1 | g.168293145T>G | CA343106838 | TBX19 | c.470T>G (p.Ile157Arg) c.267T>G | |
| 1 | g.168293146A>C | CA421716345 | TBX19 | c.471A>C (p.Ile157=) c.268A>C | |
| 1 | g.168293146A>G | CA343106839 | TBX19 | c.471A>G (p.Ile157Met) c.268A>G | |
| 1 | g.168293146A>T | CA421716346 | TBX19 | c.471A>T (p.Ile157=) c.268A>T | |
| 1 | g.168293147A= | CA1205614126 | TBX19 | c.472A= (p.Met158=) c.269A= | |
| 1 | g.168293147A>C | CA343106841 | TBX19 | c.472A>C (p.Met158Leu) c.269A>C | |
| 1 | g.168293147A>G | CA343106840 | TBX19 | c.472A>G (p.Met158Val) c.269A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293147A>T | CA343106842 | TBX19 | c.472A>T (p.Met158Leu) c.269A>T | |
| 1 | g.168293148T>A | CA343106843 | TBX19 | c.473T>A (p.Met158Lys) c.270T>A | |
| 1 | g.168293148T>C | CA31493281 | TBX19 | c.473T>C (p.Met158Thr) c.270T>C | dbSNP gnomAD v4 |
| 1 | g.168293148T>G | CA343106844 | TBX19 | c.473T>G (p.Met158Arg) c.270T>G | |
| 1 | g.168293148T= | CA1205614127 | TBX19 | c.473T= (p.Met158=) c.270T= | |
| 1 | g.168293149G>A | CA1230511 | TBX19 | c.474G>A (p.Met158Ile) c.271G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293149G>C | CA343106845 | TBX19 | c.474G>C (p.Met158Ile) c.271G>C | |
| 1 | g.168293149G= | CA1205614128 | TBX19 | c.474G= (p.Met158=) c.271G= | |
| 1 | g.168293149G>T | CA343106846 | TBX19 | c.474G>T (p.Met158Ile) c.271G>T | |
| 1 | g.168293150T>A | CA343106847 | TBX19 | c.475T>A (p.Leu159Met) c.272T>A | dbSNP |
| 1 | g.168293150T>C | CA421716350 | TBX19 | c.475T>C (p.Leu159=) c.272T>C | |
| 1 | g.168293150T>G | CA343106848 | TBX19 | c.475T>G (p.Leu159Val) c.272T>G | |
| 1 | g.168293150T= | CA1205614129 | TBX19 | c.475T= (p.Leu159=) c.272T= | |
| 1 | g.168293151T>A | CA343106849 | TBX19 | c.476T>A (p.Leu159Ter) c.273T>A | |
| 1 | g.168293151T>C | CA343106850 | TBX19 | c.476T>C (p.Leu159Ser) c.273T>C | |
| 1 | g.168293151T>G | CA343106851 | TBX19 | c.476T>G (p.Leu159Trp) c.273T>G | |
| 1 | g.168293152G>A | CA421716351 | TBX19 | c.477G>A (p.Leu159=) c.274G>A | |
| 1 | g.168293152G>C | CA343106852 | TBX19 | c.477G>C (p.Leu159Phe) c.274G>C | ClinVar dbSNP |
| 1 | g.168293152G= | CA1205614130 | TBX19 | c.477G= (p.Leu159=) c.274G= | |
| 1 | g.168293152G>T | CA343106853 | TBX19 | c.477G>T (p.Leu159Phe) c.274G>T | |
| 1 | g.168293153A>C | CA343106854 | TBX19 | c.478A>C (p.Asn160His) c.275A>C | |
| 1 | g.168293153A>G | CA343106856 | TBX19 | c.478A>G (p.Asn160Asp) c.275A>G | |
| 1 | g.168293153A>T | CA343106855 | TBX19 | c.478A>T (p.Asn160Tyr) c.275A>T | |
| 1 | g.168293154A>C | CA343106857 | TBX19 | c.479A>C (p.Asn160Thr) c.276A>C | |
| 1 | g.168293154A>G | CA343106858 | TBX19 | c.479A>G (p.Asn160Ser) c.276A>G | |
| 1 | g.168293154A>T | CA343106859 | TBX19 | c.479A>T (p.Asn160Ile) c.276A>T | |
| 1 | g.168293155T>A | CA343106860 | TBX19 | c.480T>A (p.Asn160Lys) c.277T>A | |
| 1 | g.168293155T>C | CA421716354 | TBX19 | c.480T>C (p.Asn160=) c.277T>C | |
| 1 | g.168293155T>G | CA343106861 | TBX19 | c.480T>G (p.Asn160Lys) c.277T>G | |
| 1 | g.168293156T>A | CA343106862 | TBX19 | c.481T>A (p.Ser161Thr) c.278T>A | |
| 1 | g.168293156T>C | CA343106863 | TBX19 | c.481T>C (p.Ser161Pro) c.278T>C | |
| 1 | g.168293156T>G | CA343106864 | TBX19 | c.481T>G (p.Ser161Ala) c.278T>G | |
| 1 | g.168293157C>A | CA343106865 | TBX19 | c.482C>A (p.Ser161Tyr) c.279C>A | gnomAD v4 COSMIC |
| 1 | g.168293157C>G | CA343106866 | TBX19 | c.482C>G (p.Ser161Cys) c.279C>G | gnomAD v4 |
| 1 | g.168293157C>T | CA343106867 | TBX19 | c.482C>T (p.Ser161Phe) c.279C>T | |
| 1 | g.168293158T>A | CA421716356 | TBX19 | c.483T>A (p.Ser161=) c.280T>A | |
| 1 | g.168293158T>C | CA421716357 | TBX19 | c.483T>C (p.Ser161=) c.280T>C | |
| 1 | g.168293158T>G | CA1230512 | TBX19 | c.483T>G (p.Ser161=) c.280T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293158T= | CA1143360414 | TBX19 | c.483T= (p.Ser161=) c.280T= | |
| 1 | g.168293159C>A | CA343106869 | TBX19 | c.484C>A (p.Leu162Met) c.281C>A | |
| 1 | g.168293159C= | CA1143611398 | TBX19 | c.484C= (p.Leu162=) c.281C= | |
| 1 | g.168293159C>G | CA343106868 | TBX19 | c.484C>G (p.Leu162Val) c.281C>G | |
| 1 | g.168293159C>T | CA1230513 | TBX19 | c.484C>T (p.Leu162=) c.281C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293160T>A | CA343106870 | TBX19 | c.485T>A (p.Leu162Gln) c.282T>A | |
| 1 | g.168293160T>C | CA343106871 | TBX19 | c.485T>C (p.Leu162Pro) c.282T>C | |
| 1 | g.168293160T>G | CA343106872 | TBX19 | c.485T>G (p.Leu162Arg) c.282T>G | |
| 1 | g.168293162_168293171del | CA2574084058 | TBX19 | c.487_496del (p.His163AsnfsTer6) c.284_293del | |
| 1 | g.168293161G>A | CA421716359 | TBX19 | c.486G>A (p.Leu162=) c.283G>A | |
| 1 | g.168293161G>C | CA421716360 | TBX19 | c.486G>C (p.Leu162=) c.283G>C | |
| 1 | g.168293161G>T | CA421716361 | TBX19 | c.486G>T (p.Leu162=) c.283G>T | |
| 1 | g.168293162C>A | CA343106873 | TBX19 | c.487C>A (p.His163Asn) c.284C>A | dbSNP COSMIC |
| 1 | g.168293162C= | CA1205614131 | TBX19 | c.487C= (p.His163=) c.284C= | |
| 1 | g.168293162C>G | CA343106874 | TBX19 | c.487C>G (p.His163Asp) c.284C>G | |
| 1 | g.168293162C>T | CA343106875 | TBX19 | c.487C>T (p.His163Tyr) c.284C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293163A= | CA1205614132 | TBX19 | c.488A= (p.His163=) c.285A= | |
| 1 | g.168293163A>C | CA343106876 | TBX19 | c.488A>C (p.His163Pro) c.285A>C | |
| 1 | g.168293163A>G | CA343106877 | TBX19 | c.488A>G (p.His163Arg) c.285A>G | |
| 1 | g.168293163A>T | CA1230514 | TBX19 | c.488A>T (p.His163Leu) c.285A>T | dbSNP ExAC gnomAD v2 |
| 1 | g.168293164T>A | CA343106878 | TBX19 | c.489T>A (p.His163Gln) c.286T>A | gnomAD v4 |
| 1 | g.168293164T>C | CA421716362 | TBX19 | c.489T>C (p.His163=) c.286T>C | |
| 1 | g.168293164T>G | CA343106879 | TBX19 | c.489T>G (p.His163Gln) c.286T>G | |
| 1 | g.168293165A= | CA1205614133 | TBX19 | c.490A= (p.Lys164=) c.287A= | |
| 1 | g.168293165A>C | CA343106880 | TBX19 | c.490A>C (p.Lys164Gln) c.287A>C | |
| 1 | g.168293165A>G | CA343106882 | TBX19 | c.490A>G (p.Lys164Glu) c.287A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293165A>T | CA343106881 | TBX19 | c.490A>T (p.Lys164Ter) c.287A>T | gnomAD v4 |
| 1 | g.168293166A>C | CA343106883 | TBX19 | c.491A>C (p.Lys164Thr) c.288A>C | |
| 1 | g.168293166A>G | CA343106884 | TBX19 | c.491A>G (p.Lys164Arg) c.288A>G | |
| 1 | g.168293166A>T | CA343106885 | TBX19 | c.491A>T (p.Lys164Ile) c.288A>T | |
| 1 | g.168293167A>C | CA343106886 | TBX19 | c.492A>C (p.Lys164Asn) c.289A>C | |
| 1 | g.168293167A>G | CA421716364 | TBX19 | c.492A>G (p.Lys164=) c.289A>G | |
| 1 | g.168293167A>T | CA343106887 | TBX19 | c.492A>T (p.Lys164Asn) c.289A>T | |
| 1 | g.168293168T>A | CA343106888 | TBX19 | c.493T>A (p.Tyr165Asn) c.290T>A | |
| 1 | g.168293168T>C | CA343106889 | TBX19 | c.493T>C (p.Tyr165His) c.290T>C | |
| 1 | g.168293168T>G | CA343106890 | TBX19 | c.493T>G (p.Tyr165Asp) c.290T>G | |
| 1 | g.168293169A= | CA1205614134 | TBX19 | c.494A= (p.Tyr165=) c.291A= | |
| 1 | g.168293169A>C | CA343106891 | TBX19 | c.494A>C (p.Tyr165Ser) c.291A>C | |
| 1 | g.168293169A>G | CA343106892 | TBX19 | c.494A>G (p.Tyr165Cys) c.291A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293169A>T | CA343106893 | TBX19 | c.494A>T (p.Tyr165Phe) c.291A>T | |
| 1 | g.168293170T>A | CA343106895 | TBX19 | c.495T>A (p.Tyr165Ter) c.292T>A | |
| 1 | g.168293170T>C | CA421716365 | TBX19 | c.495T>C (p.Tyr165=) c.292T>C | COSMIC |
| 1 | g.168293170T>G | CA343106894 | TBX19 | c.495T>G (p.Tyr165Ter) c.292T>G | |
| 1 | g.168293171G>A | CA343106896 | TBX19 | c.496G>A (p.Glu166Lys) c.293G>A | |
| 1 | g.168293171G>C | CA343106898 | TBX19 | c.496G>C (p.Glu166Gln) c.293G>C | |
| 1 | g.168293171G>T | CA343106897 | TBX19 | c.496G>T (p.Glu166Ter) c.293G>T | COSMIC |
| 1 | g.168293172A>C | CA343106899 | TBX19 | c.497A>C (p.Glu166Ala) c.294A>C | |
| 1 | g.168293172A>G | CA343106900 | TBX19 | c.497A>G (p.Glu166Gly) c.294A>G | |
| 1 | g.168293172A>T | CA343106901 | TBX19 | c.497A>T (p.Glu166Val) c.294A>T | |
| 1 | g.168293173A= | CA1205614135 | TBX19 | c.498A= (p.Glu166=) c.295A= | |
| 1 | g.168293173A>C | CA343106902 | TBX19 | c.498A>C (p.Glu166Asp) c.295A>C | |
| 1 | g.168293173A>G | CA421716366 | TBX19 | c.498A>G (p.Glu166=) c.295A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293173A>T | CA343106903 | TBX19 | c.498A>T (p.Glu166Asp) c.295A>T | |
| 1 | g.168293174C>A | CA343106904 | TBX19 | c.499C>A (p.Pro167Thr) c.296C>A | gnomAD v4 |
| 1 | g.168293174C>G | CA343106905 | TBX19 | c.499C>G (p.Pro167Ala) c.296C>G | |
| 1 | g.168293174C>T | CA343106906 | TBX19 | c.499C>T (p.Pro167Ser) c.296C>T | |
| 1 | g.168293177del | CA2574084059 | TBX19 | c.502del (p.Gln168ArgfsTer4) c.299del | |
| 1 | g.168293175C>A | CA343106907 | TBX19 | c.500C>A (p.Pro167His) c.297C>A | |
| 1 | g.168293175C= | CA1205614136 | TBX19 | c.500C= (p.Pro167=) c.297C= | |
| 1 | g.168293175C>G | CA343106908 | TBX19 | c.500C>G (p.Pro167Arg) c.297C>G | |
| 1 | g.168293175C>T | CA343106909 | TBX19 | c.500C>T (p.Pro167Leu) c.297C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293176C>A | CA421716367 | TBX19 | c.501C>A (p.Pro167=) c.298C>A | |
| 1 | g.168293176C>G | CA421716368 | TBX19 | c.501C>G (p.Pro167=) c.298C>G | |
| 1 | g.168293176C>T | CA421716369 | TBX19 | c.501C>T (p.Pro167=) c.298C>T | gnomAD v4 |
| 1 | g.168293177C>A | CA343106912 | TBX19 | c.502C>A (p.Gln168Lys) c.299C>A | |
| 1 | g.168293177C>G | CA343106910 | TBX19 | c.502C>G (p.Gln168Glu) c.299C>G | gnomAD v4 |
| 1 | g.168293177C>T | CA343106911 | TBX19 | c.502C>T (p.Gln168Ter) c.299C>T | |
| 1 | g.168293178A= | CA1205614137 | TBX19 | c.503A= (p.Gln168=) c.300A= | |
| 1 | g.168293178A>C | CA343106913 | TBX19 | c.503A>C (p.Gln168Pro) c.300A>C | |
| 1 | g.168293178A>G | CA31493290 | TBX19 | c.503A>G (p.Gln168Arg) c.300A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293178A>T | CA343106914 | TBX19 | c.503A>T (p.Gln168Leu) c.300A>T | |
| 1 | g.168293179G>A | CA421716370 | TBX19 | c.504G>A (p.Gln168=) c.301G>A | |
| 1 | g.168293179G>C | CA343106915 | TBX19 | c.504G>C (p.Gln168His) c.301G>C | |
| 1 | g.168293179G>T | CA343106916 | TBX19 | c.504G>T (p.Gln168His) c.301G>T | |
| 1 | g.168293180G>A | CA343106917 | TBX19 | c.505G>A (p.Val169Ile) c.302G>A | dbSNP |
| 1 | g.168293180G>C | CA343106918 | TBX19 | c.505G>C (p.Val169Leu) c.302G>C | |
| 1 | g.168293180G= | CA1205614138 | TBX19 | c.505G= (p.Val169=) c.302G= | |
| 1 | g.168293180G>T | CA343106919 | TBX19 | c.505G>T (p.Val169Phe) c.302G>T | gnomAD v4 |
| 1 | g.168293181T>A | CA343106920 | TBX19 | c.506T>A (p.Val169Asp) c.303T>A | |
| 1 | g.168293181T>C | CA343106921 | TBX19 | c.506T>C (p.Val169Ala) c.303T>C | |
| 1 | g.168293181T>G | CA343106922 | TBX19 | c.506T>G (p.Val169Gly) c.303T>G | |
| 1 | g.168293182T>A | CA31493291 | TBX19 | c.507T>A (p.Val169=) c.304T>A | dbSNP |
| 1 | g.168293182T>C | CA421716371 | TBX19 | c.507T>C (p.Val169=) c.304T>C | |
| 1 | g.168293182T>G | CA421716372 | TBX19 | c.507T>G (p.Val169=) c.304T>G | |
| 1 | g.168293182T= | CA1205614139 | TBX19 | c.507T= (p.Val169=) c.304T= | |
| 1 | g.168293183C>A | CA343106924 | TBX19 | c.508C>A (p.His170Asn) c.305C>A | |
| 1 | g.168293183C= | CA1205614140 | TBX19 | c.508C= (p.His170=) c.305C= | |
| 1 | g.168293183C>G | CA343106925 | TBX19 | c.508C>G (p.His170Asp) c.305C>G | |
| 1 | g.168293183C>T | CA343106923 | TBX19 | c.508C>T (p.His170Tyr) c.305C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293184A>C | CA343106926 | TBX19 | c.509A>C (p.His170Pro) c.306A>C | |
| 1 | g.168293184A>G | CA343106927 | TBX19 | c.509A>G (p.His170Arg) c.306A>G | |
| 1 | g.168293184A>T | CA343106928 | TBX19 | c.509A>T (p.His170Leu) c.306A>T | |
| 1 | g.168293185C>A | CA343106929 | TBX19 | c.510C>A (p.His170Gln) c.307C>A | |
| 1 | g.168293185C>G | CA343106930 | TBX19 | c.510C>G (p.His170Gln) c.307C>G | |
| 1 | g.168293185C>T | CA421716373 | TBX19 | c.510C>T (p.His170=) c.307C>T | |
| 1 | g.168293186A= | CA1205614141 | TBX19 | c.511A= (p.Ile171=) c.308A= | |
| 1 | g.168293186A>C | CA343106931 | TBX19 | c.511A>C (p.Ile171Leu) c.308A>C | |
| 1 | g.168293186A>G | CA1230515 | TBX19 | c.511A>G (p.Ile171Val) c.308A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.168293186A>T | CA343106932 | TBX19 | c.511A>T (p.Ile171Leu) c.308A>T | |
| 1 | g.168293187T>A | CA343106933 | TBX19 | c.512T>A (p.Ile171Lys) c.309T>A | |
| 1 | g.168293187T>C | CA343106934 | TBX19 | c.512T>C (p.Ile171Thr) c.309T>C | gnomAD v4 |
| 1 | g.168293187T>G | CA343106935 | TBX19 | c.512T>G (p.Ile171Arg) c.309T>G | |
| 1 | g.168293188A>C | CA421716374 | TBX19 | c.513A>C (p.Ile171=) c.310A>C | |
| 1 | g.168293188A>G | CA343106936 | TBX19 | c.513A>G (p.Ile171Met) c.310A>G | gnomAD v4 |
| 1 | g.168293188A>T | CA421716375 | TBX19 | c.513A>T (p.Ile171=) c.310A>T | |
| 1 | g.168293189G>A | CA343106938 | TBX19 | c.514G>A (p.Val172Met) c.311G>A | gnomAD v4 |
| 1 | g.168293189G>C | CA343106939 | TBX19 | c.514G>C (p.Val172Leu) c.311G>C | |
| 1 | g.168293189G= | CA1205614142 | TBX19 | c.514G= (p.Val172=) c.311G= | |
| 1 | g.168293189G>T | CA343106937 | TBX19 | c.514G>T (p.Val172Leu) c.311G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293190T>A | CA343106940 | TBX19 | c.515T>A (p.Val172Glu) c.312T>A | |
| 1 | g.168293190T>C | CA343106941 | TBX19 | c.515T>C (p.Val172Ala) c.312T>C | gnomAD v4 |
| 1 | g.168293190T>G | CA343106942 | TBX19 | c.515T>G (p.Val172Gly) c.312T>G | |
| 1 | g.168293191G>A | CA1230516 | TBX19 | c.516G>A (p.Val172=) c.313G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.168293191G>C | CA421716376 | TBX19 | c.516G>C (p.Val172=) c.313G>C | |
| 1 | g.168293191G= | CA1205614143 | TBX19 | c.516G= (p.Val172=) c.313G= | |
| 1 | g.168293191G>T | CA421716377 | TBX19 | c.516G>T (p.Val172=) c.313G>T | |
| 1 | g.168293192C>A | CA343106943 | TBX19 | c.517C>A (p.Arg173Ser) c.314C>A | gnomAD v4 COSMIC |
| 1 | g.168293192C= | CA1143829019 | TBX19 | c.517C= (p.Arg173=) c.314C= | |
| 1 | g.168293192C>G | CA1230518 | TBX19 | c.517C>G (p.Arg173Gly) c.314C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.168293192C>T | CA1230517 | TBX19 | c.517C>T (p.Arg173Cys) c.314C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293193G>A | CA1230519 | TBX19 | c.518G>A (p.Arg173His) c.315G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293193G>C | CA343106944 | TBX19 | c.518G>C (p.Arg173Pro) c.315G>C | |
| 1 | g.168293193G= | CA1205614144 | TBX19 | c.518G= (p.Arg173=) c.315G= | |
| 1 | g.168293193G>T | CA343106945 | TBX19 | c.518G>T (p.Arg173Leu) c.315G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293194T>A | CA421716378 | TBX19 | c.519T>A (p.Arg173=) c.316T>A | dbSNP gnomAD v4 |
| 1 | g.168293194T>C | CA421716379 | TBX19 | c.519T>C (p.Arg173=) c.316T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293194T>G | CA1230520 | TBX19 | c.519T>G (p.Arg173=) c.316T>G | dbSNP ExAC |
| 1 | g.168293194T= | CA1205614145 | TBX19 | c.519T= (p.Arg173=) c.316T= | |
| 1 | g.168293195G>A | CA343106946 | TBX19 | c.520G>A (p.Val174Ile) c.317G>A | |
| 1 | g.168293195G>C | CA343106947 | TBX19 | c.520G>C (p.Val174Leu) c.317G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293195G= | CA1205614146 | TBX19 | c.520G= (p.Val174=) c.317G= | |
| 1 | g.168293195G>T | CA343106948 | TBX19 | c.520G>T (p.Val174Phe) c.317G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293196T>A | CA343106950 | TBX19 | c.521T>A (p.Val174Asp) c.318T>A | |
| 1 | g.168293196T>C | CA343106951 | TBX19 | c.521T>C (p.Val174Ala) c.318T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293196T>G | CA343106949 | TBX19 | c.521T>G (p.Val174Gly) c.318T>G | |
| 1 | g.168293196T= | CA1205614147 | TBX19 | c.521T= (p.Val174=) c.318T= | |
| 1 | g.168293197T>A | CA421716380 | TBX19 | c.522T>A (p.Val174=) c.319T>A | |
| 1 | g.168293197T>C | CA421716381 | TBX19 | c.522T>C (p.Val174=) c.319T>C | |
| 1 | g.168293197T>G | CA421716382 | TBX19 | c.522T>G (p.Val174=) c.319T>G | |
| 1 | g.168293198G>A | CA343106954 | TBX19 | c.523G>A (p.Gly175Arg) c.320G>A | |
| 1 | g.168293198G>C | CA343106952 | TBX19 | c.523G>C (p.Gly175Arg) c.320G>C | |
| 1 | g.168293198G>T | CA343106953 | TBX19 | c.523G>T (p.Gly175Ter) c.320G>T | |
| 1 | g.168293199G>A | CA343106955 | TBX19 | c.524G>A (p.Gly175Glu) c.321G>A | gnomAD v4 COSMIC |
| 1 | g.168293199G>C | CA343106956 | TBX19 | c.524G>C (p.Gly175Ala) c.321G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293199G= | CA1205614148 | TBX19 | c.524G= (p.Gly175=) c.321G= | |
| 1 | g.168293199G>T | CA343106957 | TBX19 | c.524G>T (p.Gly175Val) c.321G>T | ClinVar dbSNP |
| 1 | g.168293200A= | CA1148426359 | TBX19 | c.525A= (p.Gly175=) c.322A= | |
| 1 | g.168293200A>C | CA1230521 | TBX19 | c.525A>C (p.Gly175=) c.322A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.168293200A>G | CA421716383 | TBX19 | c.525A>G (p.Gly175=) c.322A>G | |
| 1 | g.168293200A>T | CA421716384 | TBX19 | c.525A>T (p.Gly175=) c.322A>T | |
| 1 | g.168293201_168293202insAACCCACCTTTCATCTAAAA | CA2746547400 | TBX19 | c.526_527insAACCCACCTTTCATCTAAAA (p.Ser176LysfsTer13) c.323_324insAACCCACCTTTCATCTAAAA | |
| 1 | g.168293201A>C | CA343106960 | TBX19 | c.526A>C (p.Ser176Arg) c.323A>C | |
| 1 | g.168293201A>G | CA343106958 | TBX19 | c.526A>G (p.Ser176Gly) c.323A>G | |
| 1 | g.168293201A>T | CA343106959 | TBX19 | c.526A>T (p.Ser176Cys) c.323A>T | |
| 1 | g.168293202G>A | CA343106961 | TBX19 | c.527G>A (p.Ser176Asn) c.324G>A | |
| 1 | g.168293202G>C | CA343106962 | TBX19 | c.527G>C (p.Ser176Thr) c.324G>C | |
| 1 | g.168293202G>T | CA343106963 | TBX19 | c.527G>T (p.Ser176Ile) c.324G>T | |
| 1 | g.168293203T>A | CA343106964 | TBX19 | c.528T>A (p.Ser176Arg) c.325T>A | |
| 1 | g.168293203T>C | CA421716385 | TBX19 | c.528T>C (p.Ser176=) c.325T>C | |
| 1 | g.168293203T>G | CA343106965 | TBX19 | c.528T>G (p.Ser176Arg) c.325T>G | |
| 1 | g.168293204G>A | CA343106967 | TBX19 | c.529G>A (p.Ala177Thr) c.326G>A | dbSNP gnomAD v4 |
| 1 | g.168293204G>C | CA343106966 | TBX19 | c.529G>C (p.Ala177Pro) c.326G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.168293204G= | CA1205614149 | TBX19 | c.529G= (p.Ala177=) c.326G= | |
| 1 | g.168293204G>T | CA1230522 | TBX19 | c.529G>T (p.Ala177Ser) c.326G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293205C>A | CA343106968 | TBX19 | c.530C>A (p.Ala177Asp) c.327C>A | |
| 1 | g.168293205C= | CA1205614150 | TBX19 | c.530C= (p.Ala177=) c.327C= | |
| 1 | g.168293205C>G | CA343106969 | TBX19 | c.530C>G (p.Ala177Gly) c.327C>G | dbSNP gnomAD v4 |
| 1 | g.168293205C>T | CA343106970 | TBX19 | c.530C>T (p.Ala177Val) c.327C>T | gnomAD v4 COSMIC |
| 1 | g.168293206C>A | CA421716388 | TBX19 | c.531C>A (p.Ala177=) c.328C>A | |
| 1 | g.168293206C>G | CA421716387 | TBX19 | c.531C>G (p.Ala177=) c.328C>G | |
| 1 | g.168293206C>T | CA421716386 | TBX19 | c.531C>T (p.Ala177=) c.328C>T | gnomAD v4 |
| 1 | g.168293207C>A | CA343106971 | TBX19 | c.532C>A (p.His178Asn) c.329C>A | |
| 1 | g.168293207C>G | CA343106972 | TBX19 | c.532C>G (p.His178Asp) c.329C>G | |
| 1 | g.168293207C>T | CA343106973 | TBX19 | c.532C>T (p.His178Tyr) c.329C>T | |
| 1 | g.168293208A>C | CA343106974 | TBX19 | c.533A>C (p.His178Pro) c.330A>C | |
| 1 | g.168293208A>G | CA343106975 | TBX19 | c.533A>G (p.His178Arg) c.330A>G | COSMIC |
| 1 | g.168293208A>T | CA343106976 | TBX19 | c.533A>T (p.His178Leu) c.330A>T | |
| 1 | g.168293209T>A | CA343106977 | TBX19 | c.534T>A (p.His178Gln) c.331T>A | |
| 1 | g.168293209T>C | CA421716389 | TBX19 | c.534T>C (p.His178=) c.331T>C | |
| 1 | g.168293209T>G | CA343106978 | TBX19 | c.534T>G (p.His178Gln) c.331T>G | |
| 1 | g.168293210C>A | CA421716390 | TBX19 | c.535C>A (p.Arg179=) c.332C>A | |
| 1 | g.168293210C= | CA1143401981 | TBX19 | c.535C= (p.Arg179=) c.332C= | |
| 1 | g.168293210C>G | CA343106979 | TBX19 | c.535C>G (p.Arg179Gly) c.332C>G | |
| 1 | g.168293210C>T | CA1230523 | TBX19 | c.535C>T (p.Arg179Ter) c.332C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293211G>A | CA1230524 | TBX19 | c.536G>A (p.Arg179Gln) c.333G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.168293211G>C | CA343106981 | TBX19 | c.536G>C (p.Arg179Pro) c.333G>C | |
| 1 | g.168293211G= | CA1141713285 | TBX19 | c.536G= (p.Arg179=) c.333G= | |
| 1 | g.168293211G>T | CA343106980 | TBX19 | c.536G>T (p.Arg179Leu) c.333G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293212A>C | CA421716391 | TBX19 | c.537A>C (p.Arg179=) c.334A>C | |
| 1 | g.168293212A>G | CA421716393 | TBX19 | c.537A>G (p.Arg179=) c.334A>G | |
| 1 | g.168293212A>T | CA421716392 | TBX19 | c.537A>T (p.Arg179=) c.334A>T | |
| 1 | g.168293213A>C | CA343106982 | TBX19 | c.538A>C (p.Met180Leu) c.335A>C | |
| 1 | g.168293213A>G | CA343106983 | TBX19 | c.538A>G (p.Met180Val) c.335A>G | gnomAD v4 |
| 1 | g.168293213A>T | CA343106984 | TBX19 | c.538A>T (p.Met180Leu) c.335A>T | |
| 1 | g.168293214T>A | CA343106985 | TBX19 | c.539T>A (p.Met180Lys) c.336T>A | |
| 1 | g.168293214T>C | CA343106986 | TBX19 | c.539T>C (p.Met180Thr) c.336T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293214T>G | CA343106987 | TBX19 | c.539T>G (p.Met180Arg) c.336T>G | |
| 1 | g.168293214T= | CA1205614151 | TBX19 | c.539T= (p.Met180=) c.336T= | |
| 1 | g.168293215G>A | CA343106988 | TBX19 | c.540G>A (p.Met180Ile) c.337G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293215G>C | CA343106989 | TBX19 | c.540G>C (p.Met180Ile) c.337G>C | |
| 1 | g.168293215G= | CA1205614152 | TBX19 | c.540G= (p.Met180=) c.337G= | |
| 1 | g.168293215G>T | CA343106990 | TBX19 | c.540G>T (p.Met180Ile) c.337G>T | |
| 1 | g.168293216G>A | CA1230525 | TBX19 | c.541G>A (p.Val181Ile) c.338G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293216G>C | CA343106991 | TBX19 | c.541G>C (p.Val181Leu) c.338G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.168293216G= | CA1205614153 | TBX19 | c.541G= (p.Val181=) c.338G= | |
| 1 | g.168293216G>T | CA343106992 | TBX19 | c.541G>T (p.Val181Leu) c.338G>T | |
| 1 | g.168293217T>A | CA343106995 | TBX19 | c.542T>A (p.Val181Glu) c.339T>A | |
| 1 | g.168293217T>C | CA343106993 | TBX19 | c.542T>C (p.Val181Ala) c.339T>C | |
| 1 | g.168293217T>G | CA343106994 | TBX19 | c.542T>G (p.Val181Gly) c.339T>G | |
| 1 | g.168293218A>C | CA421716394 | TBX19 | c.543A>C (p.Val181=) c.340A>C | |
| 1 | g.168293218A>G | CA421716395 | TBX19 | c.543A>G (p.Val181=) c.340A>G | gnomAD v4 |
| 1 | g.168293218A>T | CA421716396 | TBX19 | c.543A>T (p.Val181=) c.340A>T | |
| 1 | g.168293219A>C | CA343106996 | TBX19 | c.544A>C (p.Thr182Pro) c.341A>C | |
| 1 | g.168293219A>G | CA343106997 | TBX19 | c.544A>G (p.Thr182Ala) c.341A>G | gnomAD v4 |
| 1 | g.168293219A>T | CA343106998 | TBX19 | c.544A>T (p.Thr182Ser) c.341A>T | |
| 1 | g.168293220C>A | CA343106999 | TBX19 | c.545C>A (p.Thr182Lys) c.342C>A | |
| 1 | g.168293220C>G | CA343107000 | TBX19 | c.545C>G (p.Thr182Arg) c.342C>G | |
| 1 | g.168293220C>T | CA343107001 | TBX19 | c.545C>T (p.Thr182Ile) c.342C>T | |
| 1 | g.168293221A>C | CA421716397 | TBX19 | c.546A>C (p.Thr182=) c.343A>C | COSMIC |
| 1 | g.168293221A>G | CA421716398 | TBX19 | c.546A>G (p.Thr182=) c.343A>G | gnomAD v4 |
| 1 | g.168293221A>T | CA421716399 | TBX19 | c.546A>T (p.Thr182=) c.343A>T | |
| 1 | g.168293222A= | CA1205614154 | TBX19 | c.547A= (p.Asn183=) c.344A= | |
| 1 | g.168293222A>C | CA343107002 | TBX19 | c.547A>C (p.Asn183His) c.344A>C | |
| 1 | g.168293222A>G | CA1230526 | TBX19 | c.547A>G (p.Asn183Asp) c.344A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.168293222A>T | CA343107003 | TBX19 | c.547A>T (p.Asn183Tyr) c.344A>T | |
| 1 | g.168293223A>C | CA343107004 | TBX19 | c.548A>C (p.Asn183Thr) c.345A>C | |
| 1 | g.168293223A>G | CA343107005 | TBX19 | c.548A>G (p.Asn183Ser) c.345A>G | |
| 1 | g.168293223A>T | CA343107006 | TBX19 | c.548A>T (p.Asn183Ile) c.345A>T | |
| 1 | g.168293224C>A | CA343107008 | TBX19 | c.549C>A (p.Asn183Lys) c.346C>A | |
| 1 | g.168293224C>G | CA343107007 | TBX19 | c.549C>G (p.Asn183Lys) c.346C>G | |
| 1 | g.168293224C>T | CA421716400 | TBX19 | c.549C>T (p.Asn183=) c.346C>T | |
| 1 | g.168293225T>A | CA343107009 | TBX19 | c.550T>A (p.Cys184Ser) c.347T>A | COSMIC |
| 1 | g.168293225T>C | CA343107011 | TBX19 | c.550T>C (p.Cys184Arg) c.347T>C | |
| 1 | g.168293225T>G | CA343107010 | TBX19 | c.550T>G (p.Cys184Gly) c.347T>G | |
| 1 | g.168293226G>A | CA343107012 | TBX19 | c.551G>A (p.Cys184Tyr) c.348G>A | |
| 1 | g.168293226G>C | CA343107013 | TBX19 | c.551G>C (p.Cys184Ser) c.348G>C | |
| 1 | g.168293226G>T | CA343107014 | TBX19 | c.551G>T (p.Cys184Phe) c.348G>T | |
| 1 | g.168293227C>A | CA343107015 | TBX19 | c.552C>A (p.Cys184Ter) c.349C>A | |
| 1 | g.168293227C= | CA1205614155 | TBX19 | c.552C= (p.Cys184=) c.349C= | |
| 1 | g.168293227C>G | CA343107016 | TBX19 | c.552C>G (p.Cys184Trp) c.349C>G | |
| 1 | g.168293227C>T | CA421716401 | TBX19 | c.552C>T (p.Cys184=) c.349C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.168293228T>A | CA343107017 | TBX19 | c.553T>A (p.Ser185Thr) c.350T>A | gnomAD v4 |
| 1 | g.168293228T>C | CA343107018 | TBX19 | c.553T>C (p.Ser185Pro) c.350T>C | |
| 1 | g.168293228T>G | CA343107019 | TBX19 | c.553T>G (p.Ser185Ala) c.350T>G | |
| 1 | g.168293229C>A | CA343107020 | TBX19 | c.554C>A (p.Ser185Tyr) c.351C>A | |
| 1 | g.168293229C>G | CA343107021 | TBX19 | c.554C>G (p.Ser185Cys) c.351C>G | |
| 1 | g.168293229C>T | CA343107022 | TBX19 | c.554C>T (p.Ser185Phe) c.351C>T | COSMIC |
| 1 | g.168293230C>A | CA421716402 | TBX19 | c.555C>A (p.Ser185=) c.352C>A | |
| 1 | g.168293230C= | CA1149043322 | TBX19 | c.555C= (p.Ser185=) c.352C= | |
| 1 | g.168293230C>G | CA1230527 | TBX19 | c.555C>G (p.Ser185=) c.352C>G | dbSNP ExAC |
| 1 | g.168293230C>T | CA421716403 | TBX19 | c.555C>T (p.Ser185=) c.352C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.168293231T>A | CA343107025 | TBX19 | c.556T>A (p.Phe186Ile) c.353T>A | |
| 1 | g.168293231T>C | CA343107023 | TBX19 | c.556T>C (p.Phe186Leu) c.353T>C | |
| 1 | g.168293231T>G | CA343107024 | TBX19 | c.556T>G (p.Phe186Val) c.353T>G | |
| 1 | g.168293232T>A | CA343107026 | TBX19 | c.557T>A (p.Phe186Tyr) c.354T>A | |
| 1 | g.168293232T>C | CA343107027 | TBX19 | c.557T>C (p.Phe186Ser) c.354T>C | |
| 1 | g.168293232T>G | CA343107028 | TBX19 | c.557T>G (p.Phe186Cys) c.354T>G | |
| 1 | g.168293233C>A | CA343107029 | TBX19 | c.558C>A (p.Phe186Leu) c.355C>A | |
| 1 | g.168293233C>G | CA343107030 | TBX19 | c.558C>G (p.Phe186Leu) c.355C>G | |
| 1 | g.168293233C>T | CA421716404 | TBX19 | c.558C>T (p.Phe186=) c.355C>T | |
| 1 | g.168293234C>A | CA343107031 | TBX19 | c.559C>A (p.Pro187Thr) c.356C>A | |
| 1 | g.168293234C>G | CA343107032 | TBX19 | c.559C>G (p.Pro187Ala) c.356C>G | |
| 1 | g.168293234C>T | CA343107033 | TBX19 | c.559C>T (p.Pro187Ser) c.356C>T | |
| 1 | g.168293235C>A | CA343107034 | TBX19 | c.560C>A (p.Pro187His) c.357C>A | |
| 1 | g.168293235C>G | CA343107035 | TBX19 | c.560C>G (p.Pro187Arg) c.357C>G | |
| 1 | g.168293235C>T | CA343107036 | TBX19 | c.560C>T (p.Pro187Leu) c.357C>T |