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 |
|---|---|---|---|---|---|
| 19 | g.19219028C>A | CA404906887 | NCAN | c.187C>A (p.Leu63Met) | gnomAD v4 |
| 19 | g.19219028C>G | CA404906889 | NCAN | c.187C>G (p.Leu63Val) | |
| 19 | g.19219028C>T | CA506424836 | NCAN | c.187C>T (p.Leu63=) | |
| 19 | g.19219028_19219029delinsCT | CA2326737231 | NCAN | c.187_188delinsCT (p.Leu63=) | |
| 19 | g.19219029del | CA9323239 | NCAN | c.188del (p.Leu63ArgfsTer14) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19219029T>A | CA404906893 | NCAN | c.188T>A (p.Leu63Gln) | |
| 19 | g.19219029T>C | CA404906895 | NCAN | c.188T>C (p.Leu63Pro) | gnomAD v4 |
| 19 | g.19219029T>G | CA404906892 | NCAN | c.188T>G (p.Leu63Arg) | |
| 19 | g.19219030G>A | CA506424838 | NCAN | c.189G>A (p.Leu63=) | gnomAD v4 |
| 19 | g.19219030G>C | CA506424839 | NCAN | c.189G>C (p.Leu63=) | gnomAD v4 |
| 19 | g.19219030G>T | CA506424837 | NCAN | c.189G>T (p.Leu63=) | |
| 19 | g.19219031C>A | CA404906897 | NCAN | c.190C>A (p.Gln64Lys) | |
| 19 | g.19219031C>G | CA404906899 | NCAN | c.190C>G (p.Gln64Glu) | |
| 19 | g.19219031C>T | CA404906900 | NCAN | c.190C>T (p.Gln64Ter) | gnomAD v4 |
| 19 | g.19219032A>C | CA404906901 | NCAN | c.191A>C (p.Gln64Pro) | |
| 19 | g.19219032A>G | CA404906902 | NCAN | c.191A>G (p.Gln64Arg) | |
| 19 | g.19219032A>T | CA404906903 | NCAN | c.191A>T (p.Gln64Leu) | |
| 19 | g.19219033G>A | CA506424841 | NCAN | c.192G>A (p.Gln64=) | dbSNP gnomAD v2 |
| 19 | g.19219033G>C | CA404906905 | NCAN | c.192G>C (p.Gln64His) | |
| 19 | g.19219033G= | CA2326737232 | NCAN | c.192G= (p.Gln64=) | |
| 19 | g.19219033G>T | CA404906907 | NCAN | c.192G>T (p.Gln64His) | |
| 19 | g.19219034C>A | CA306284032 | NCAN | c.193C>A (p.Pro65Thr) | dbSNP |
| 19 | g.19219034C= | CA2326737234 | NCAN | c.193C= (p.Pro65=) | |
| 19 | g.19219034C>G | CA404906910 | NCAN | c.193C>G (p.Pro65Ala) | |
| 19 | g.19219034C>T | CA404906914 | NCAN | c.193C>T (p.Pro65Ser) | |
| 19 | g.19219035C>A | CA404906916 | NCAN | c.194C>A (p.Pro65Gln) | |
| 19 | g.19219035C= | CA2326737236 | NCAN | c.194C= (p.Pro65=) | |
| 19 | g.19219035C>G | CA404906917 | NCAN | c.194C>G (p.Pro65Arg) | |
| 19 | g.19219035C>T | CA404906919 | NCAN | c.194C>T (p.Pro65Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19219036A>C | CA506424845 | NCAN | c.195A>C (p.Pro65=) | |
| 19 | g.19219036A>G | CA506424846 | NCAN | c.195A>G (p.Pro65=) | |
| 19 | g.19219036A>T | CA506424847 | NCAN | c.195A>T (p.Pro65=) | |
| 19 | g.19219037C>A | CA506424848 | NCAN | c.196C>A (p.Arg66=) | |
| 19 | g.19219037C= | CA2326737239 | NCAN | c.196C= (p.Arg66=) | |
| 19 | g.19219037C>G | CA404906921 | NCAN | c.196C>G (p.Arg66Gly) | |
| 19 | g.19219037C>T | CA9323240 | NCAN | c.196C>T (p.Arg66Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.19219038G>A | CA9323241 | NCAN | c.197G>A (p.Arg66Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19219038G>C | CA404906924 | NCAN | c.197G>C (p.Arg66Pro) | gnomAD v4 |
| 19 | g.19219038G= | CA2326737242 | NCAN | c.197G= (p.Arg66=) | |
| 19 | g.19219038G>T | CA404906923 | NCAN | c.197G>T (p.Arg66Leu) | |
| 19 | g.19219039G>A | CA506424850 | NCAN | c.198G>A (p.Arg66=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19219039G>C | CA506424852 | NCAN | c.198G>C (p.Arg66=) | |
| 19 | g.19219039G= | CA2326737244 | NCAN | c.198G= (p.Arg66=) | |
| 19 | g.19219039G>T | CA506424853 | NCAN | c.198G>T (p.Arg66=) | |
| 19 | g.19219040C>A | CA404906925 | NCAN | c.199C>A (p.Pro67Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19219040C= | CA2326737247 | NCAN | c.199C= (p.Pro67=) | |
| 19 | g.19219040C>G | CA404906928 | NCAN | c.199C>G (p.Pro67Ala) | |
| 19 | g.19219040C>T | CA9323242 | NCAN | c.199C>T (p.Pro67Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19219041C>A | CA404906929 | NCAN | c.200C>A (p.Pro67Gln) | gnomAD v4 |
| 19 | g.19219041C>G | CA404906930 | NCAN | c.200C>G (p.Pro67Arg) | |
| 19 | g.19219041C>T | CA404906932 | NCAN | c.200C>T (p.Pro67Leu) | gnomAD v4 |
| 19 | g.19219042A>C | CA506424855 | NCAN | c.201A>C (p.Pro67=) | gnomAD v4 |
| 19 | g.19219042A>G | CA506424856 | NCAN | c.201A>G (p.Pro67=) | |
| 19 | g.19219042A>T | CA506424857 | NCAN | c.201A>T (p.Pro67=) | |
| 19 | g.19219043A= | CA2326737249 | NCAN | c.202A= (p.Ser68=) | |
| 19 | g.19219043A>C | CA404906934 | NCAN | c.202A>C (p.Ser68Arg) | gnomAD v4 |
| 19 | g.19219043A>G | CA404906936 | NCAN | c.202A>G (p.Ser68Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19219043A>T | CA404906938 | NCAN | c.202A>T (p.Ser68Cys) | |
| 19 | g.19219044G>A | CA404906939 | NCAN | c.203G>A (p.Ser68Asn) | |
| 19 | g.19219044G>C | CA404906940 | NCAN | c.203G>C (p.Ser68Thr) | |
| 19 | g.19219044G>T | CA404906941 | NCAN | c.203G>T (p.Ser68Ile) | |
| 19 | g.19219045C>A | CA404906942 | NCAN | c.204C>A (p.Ser68Arg) | dbSNP |
| 19 | g.19219045C= | CA2326737252 | NCAN | c.204C= (p.Ser68=) | |
| 19 | g.19219045C>G | CA404906944 | NCAN | c.204C>G (p.Ser68Arg) | |
| 19 | g.19219045C>T | CA9323243 | NCAN | c.204C>T (p.Ser68=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.19219046G>A | CA9323244 | NCAN | c.205G>A (p.Ala69Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.19219046G>C | CA404906948 | NCAN | c.205G>C (p.Ala69Pro) | |
| 19 | g.19219046G= | CA2326737255 | NCAN | c.205G= (p.Ala69=) | |
| 19 | g.19219046G>T | CA404906946 | NCAN | c.205G>T (p.Ala69Ser) | |
| 19 | g.19219047C>A | CA404906950 | NCAN | c.206C>A (p.Ala69Glu) | |
| 19 | g.19219047C>G | CA404906951 | NCAN | c.206C>G (p.Ala69Gly) | |
| 19 | g.19219047C>T | CA404906952 | NCAN | c.206C>T (p.Ala69Val) | gnomAD v4 |
| 19 | g.19219048A>C | CA506424859 | NCAN | c.207A>C (p.Ala69=) | |
| 19 | g.19219048A>G | CA506424860 | NCAN | c.207A>G (p.Ala69=) | |
| 19 | g.19219048A>T | CA506424861 | NCAN | c.207A>T (p.Ala69=) | gnomAD v4 |
| 19 | g.19219049G>A | CA306284033 | NCAN | c.208G>A (p.Ala70Thr) | dbSNP |
| 19 | g.19219049G>C | CA404906955 | NCAN | c.208G>C (p.Ala70Pro) | |
| 19 | g.19219049G= | CA2326737257 | NCAN | c.208G= (p.Ala70=) | |
| 19 | g.19219049G>T | CA404906957 | NCAN | c.208G>T (p.Ala70Ser) | |
| 19 | g.19219050C>A | CA404906958 | NCAN | c.209C>A (p.Ala70Asp) | |
| 19 | g.19219050C= | CA2326737260 | NCAN | c.209C= (p.Ala70=) | |
| 19 | g.19219050C>G | CA9323245 | NCAN | c.209C>G (p.Ala70Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19219050C>T | CA404906959 | NCAN | c.209C>T (p.Ala70Val) | |
| 19 | g.19219051C>A | CA506424863 | NCAN | c.210C>A (p.Ala70=) | |
| 19 | g.19219051C>G | CA506424862 | NCAN | c.210C>G (p.Ala70=) | |
| 19 | g.19219051C>T | CA506424864 | NCAN | c.210C>T (p.Ala70=) | |
| 19 | g.19219052C>A | CA506424866 | NCAN | c.211C>A (p.Arg71=) | |
| 19 | g.19219052C= | CA2326737263 | NCAN | c.211C= (p.Arg71=) | |
| 19 | g.19219052C>G | CA404906961 | NCAN | c.211C>G (p.Arg71Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19219052C>T | CA9323246 | NCAN | c.211C>T (p.Arg71Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19219053G>A | CA9323247 | NCAN | c.212G>A (p.Arg71Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.19219053G>C | CA404906962 | NCAN | c.212G>C (p.Arg71Pro) | |
| 19 | g.19219053G= | CA2326737265 | NCAN | c.212G= (p.Arg71=) | |
| 19 | g.19219053G>T | CA404906963 | NCAN | c.212G>T (p.Arg71Leu) | gnomAD v4 |
| 19 | g.19219054A>C | CA506424868 | NCAN | c.213A>C (p.Arg71=) | |
| 19 | g.19219054A>G | CA506424869 | NCAN | c.213A>G (p.Arg71=) | |
| 19 | g.19219054A>T | CA506424867 | NCAN | c.213A>T (p.Arg71=) | |
| 19 | g.19219055G>A | CA404906965 | NCAN | c.214G>A (p.Asp72Asn) | gnomAD v4 |
| 19 | g.19219055G>C | CA404906967 | NCAN | c.214G>C (p.Asp72His) | |
| 19 | g.19219055G>T | CA404906968 | NCAN | c.214G>T (p.Asp72Tyr) | |
| 19 | g.19219056A>C | CA404906972 | NCAN | c.215A>C (p.Asp72Ala) | |
| 19 | g.19219056A>G | CA404906969 | NCAN | c.215A>G (p.Asp72Gly) | |
| 19 | g.19219056A>T | CA404906970 | NCAN | c.215A>T (p.Asp72Val) | |
| 19 | g.19219057T>A | CA404906974 | NCAN | c.216T>A (p.Asp72Glu) | |
| 19 | g.19219057T>C | CA506424873 | NCAN | c.216T>C (p.Asp72=) | gnomAD v3 gnomAD v4 |
| 19 | g.19219057T>G | CA404906976 | NCAN | c.216T>G (p.Asp72Glu) | |
| 19 | g.19219058G>A | CA404906977 | NCAN | c.217G>A (p.Ala73Thr) | |
| 19 | g.19219058G>C | CA404906978 | NCAN | c.217G>C (p.Ala73Pro) | |
| 19 | g.19219058G>T | CA404906980 | NCAN | c.217G>T (p.Ala73Ser) | |
| 19 | g.19219059C>A | CA9323248 | NCAN | c.218C>A (p.Ala73Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19219059C= | CA2326737268 | NCAN | c.218C= (p.Ala73=) | |
| 19 | g.19219059C>G | CA404906986 | NCAN | c.218C>G (p.Ala73Gly) | gnomAD v4 |
| 19 | g.19219059C>T | CA404906985 | NCAN | c.218C>T (p.Ala73Val) | gnomAD v4 COSMIC COSMIC |
| 19 | g.19219062del | CA2583685476 | NCAN | c.221del (p.Pro74LeufsTer3) | gnomAD v4 |
| 19 | g.19219060C>A | CA506424877 | NCAN | c.219C>A (p.Ala73=) | |
| 19 | g.19219060C>G | CA506424875 | NCAN | c.219C>G (p.Ala73=) | |
| 19 | g.19219060C>T | CA506424879 | NCAN | c.219C>T (p.Ala73=) | |
| 19 | g.19219061C>A | CA404906987 | NCAN | c.220C>A (p.Pro74Thr) | |
| 19 | g.19219061C>G | CA404906989 | NCAN | c.220C>G (p.Pro74Ala) | |
| 19 | g.19219061C>T | CA404906991 | NCAN | c.220C>T (p.Pro74Ser) | gnomAD v4 |
| 19 | g.19219061_19219063delinsCCT | CA2326737270 | NCAN | c.220_222delinsCCT (p.Pro74=) | |
| 19 | g.19219062C>A | CA404906993 | NCAN | c.221C>A (p.Pro74His) | |
| 19 | g.19219062C>G | CA404906994 | NCAN | c.221C>G (p.Pro74Arg) | |
| 19 | g.19219062C>T | CA404906996 | NCAN | c.221C>T (p.Pro74Leu) | |
| 19 | g.19219063_19219064del | CA783989416 | NCAN | c.222_223del (p.Arg75AspfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19219063T>A | CA506424880 | NCAN | c.222T>A (p.Pro74=) | |
| 19 | g.19219063T>C | CA506424881 | NCAN | c.222T>C (p.Pro74=) | |
| 19 | g.19219063T>G | CA506424882 | NCAN | c.222T>G (p.Pro74=) | |
| 19 | g.19219064C>A | CA506424883 | NCAN | c.223C>A (p.Arg75=) | gnomAD v4 |
| 19 | g.19219064C= | CA2326737273 | NCAN | c.223C= (p.Arg75=) | |
| 19 | g.19219064C>G | CA404906998 | NCAN | c.223C>G (p.Arg75Gly) | |
| 19 | g.19219064C>T | CA9323249 | NCAN | c.223C>T (p.Arg75Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.19219065G>A | CA9323250 | NCAN | c.224G>A (p.Arg75Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.19219065G>C | CA306284034 | NCAN | c.224G>C (p.Arg75Pro) | dbSNP gnomAD v4 |
| 19 | g.19219065G= | CA2326737276 | NCAN | c.224G= (p.Arg75=) | |
| 19 | g.19219065G>T | CA404907002 | NCAN | c.224G>T (p.Arg75Leu) | COSMIC |
| 19 | g.19219066G>A | CA506424886 | NCAN | c.225G>A (p.Arg75=) | gnomAD v4 |
| 19 | g.19219066G>C | CA506424887 | NCAN | c.225G>C (p.Arg75=) | |
| 19 | g.19219066G>T | CA506424885 | NCAN | c.225G>T (p.Arg75=) | |
| 19 | g.19219067A>C | CA404907006 | NCAN | c.226A>C (p.Ile76Leu) | |
| 19 | g.19219067A>G | CA404907007 | NCAN | c.226A>G (p.Ile76Val) | |
| 19 | g.19219067A>T | CA404907004 | NCAN | c.226A>T (p.Ile76Leu) | |
| 19 | g.19219068T>A | CA404907011 | NCAN | c.227T>A (p.Ile76Lys) | |
| 19 | g.19219068T>C | CA404907008 | NCAN | c.227T>C (p.Ile76Thr) | |
| 19 | g.19219068T>G | CA404907009 | NCAN | c.227T>G (p.Ile76Arg) | |
| 19 | g.19219069A>C | CA506424890 | NCAN | c.228A>C (p.Ile76=) | |
| 19 | g.19219069A>G | CA404907012 | NCAN | c.228A>G (p.Ile76Met) | gnomAD v4 |
| 19 | g.19219069A>T | CA506424889 | NCAN | c.228A>T (p.Ile76=) | |
| 19 | g.19219070A>C | CA404907013 | NCAN | c.229A>C (p.Lys77Gln) | |
| 19 | g.19219070A>G | CA404907014 | NCAN | c.229A>G (p.Lys77Glu) | |
| 19 | g.19219070A>T | CA404907015 | NCAN | c.229A>T (p.Lys77Ter) | |
| 19 | g.19219071A>C | CA404907016 | NCAN | c.230A>C (p.Lys77Thr) | |
| 19 | g.19219071A>G | CA404907017 | NCAN | c.230A>G (p.Lys77Arg) | |
| 19 | g.19219071A>T | CA404907018 | NCAN | c.230A>T (p.Lys77Met) | |
| 19 | g.19219072G>A | CA506424892 | NCAN | c.231G>A (p.Lys77=) | |
| 19 | g.19219072G>C | CA404907022 | NCAN | c.231G>C (p.Lys77Asn) | |
| 19 | g.19219072G>T | CA404907024 | NCAN | c.231G>T (p.Lys77Asn) | |
| 19 | g.19219073T>A | CA404907027 | NCAN | c.232T>A (p.Trp78Arg) | |
| 19 | g.19219073T>C | CA404907026 | NCAN | c.232T>C (p.Trp78Arg) | |
| 19 | g.19219073T>G | CA404907025 | NCAN | c.232T>G (p.Trp78Gly) | |
| 19 | g.19219074G>A | CA404907029 | NCAN | c.233G>A (p.Trp78Ter) | |
| 19 | g.19219074G>C | CA404907031 | NCAN | c.233G>C (p.Trp78Ser) | |
| 19 | g.19219074G>T | CA404907033 | NCAN | c.233G>T (p.Trp78Leu) | |
| 19 | g.19219075G>A | CA404907034 | NCAN | c.234G>A (p.Trp78Ter) | |
| 19 | g.19219075G>C | CA404907036 | NCAN | c.234G>C (p.Trp78Cys) | |
| 19 | g.19219075G>T | CA404907037 | NCAN | c.234G>T (p.Trp78Cys) | COSMIC COSMIC |
| 19 | g.19219076A>C | CA404907039 | NCAN | c.235A>C (p.Thr79Pro) | |
| 19 | g.19219076A>G | CA404907041 | NCAN | c.235A>G (p.Thr79Ala) | |
| 19 | g.19219076A>T | CA404907042 | NCAN | c.235A>T (p.Thr79Ser) | |
| 19 | g.19219077C>A | CA404907044 | NCAN | c.236C>A (p.Thr79Asn) | gnomAD v4 |
| 19 | g.19219077C>G | CA404907046 | NCAN | c.236C>G (p.Thr79Ser) | |
| 19 | g.19219077C>T | CA404907049 | NCAN | c.236C>T (p.Thr79Ile) | |
| 19 | g.19219078C>A | CA9323251 | NCAN | c.237C>A (p.Thr79=) | dbSNP ExAC gnomAD v2 |
| 19 | g.19219078C= | CA2326737279 | NCAN | c.237C= (p.Thr79=) | |
| 19 | g.19219078C>G | CA506424895 | NCAN | c.237C>G (p.Thr79=) | |
| 19 | g.19219078C>T | CA506424894 | NCAN | c.237C>T (p.Thr79=) | gnomAD v4 |
| 19 | g.19219079A= | CA2326737296 | NCAN | c.238A= (p.Lys80=) | |
| 19 | g.19219079A>C | CA404907056 | NCAN | c.238A>C (p.Lys80Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19219079A>G | CA404907059 | NCAN | c.238A>G (p.Lys80Glu) | |
| 19 | g.19219079A>T | CA404907054 | NCAN | c.238A>T (p.Lys80Ter) | |
| 19 | g.19219080A>C | CA404907061 | NCAN | c.239A>C (p.Lys80Thr) | |
| 19 | g.19219080A>G | CA404907064 | NCAN | c.239A>G (p.Lys80Arg) | |
| 19 | g.19219080A>T | CA404907065 | NCAN | c.239A>T (p.Lys80Met) | |
| 19 | g.19219081G>A | CA506424898 | NCAN | c.240G>A (p.Lys80=) | |
| 19 | g.19219081G>C | CA404907068 | NCAN | c.240G>C (p.Lys80Asn) | |
| 19 | g.19219081G>T | CA404907071 | NCAN | c.240G>T (p.Lys80Asn) | COSMIC |
| 19 | g.19219082G>A | CA404907074 | NCAN | c.241G>A (p.Val81Met) | dbSNP COSMIC COSMIC |
| 19 | g.19219082G>C | CA404907077 | NCAN | c.241G>C (p.Val81Leu) | |
| 19 | g.19219082G= | CA2326737299 | NCAN | c.241G= (p.Val81=) | |
| 19 | g.19219082G>T | CA404907078 | NCAN | c.241G>T (p.Val81Leu) | |
| 19 | g.19219083T>A | CA404907081 | NCAN | c.242T>A (p.Val81Glu) | |
| 19 | g.19219083T>C | CA404907084 | NCAN | c.242T>C (p.Val81Ala) | |
| 19 | g.19219083T>G | CA404907085 | NCAN | c.242T>G (p.Val81Gly) | |
| 19 | g.19219084G>A | CA506424902 | NCAN | c.243G>A (p.Val81=) | COSMIC COSMIC |
| 19 | g.19219084G>C | CA506424900 | NCAN | c.243G>C (p.Val81=) | |
| 19 | g.19219084G>T | CA506424901 | NCAN | c.243G>T (p.Val81=) | |
| 19 | g.19219085C>A | CA506424904 | NCAN | c.244C>A (p.Arg82=) | gnomAD v4 |
| 19 | g.19219085C= | CA2326737302 | NCAN | c.244C= (p.Arg82=) | |
| 19 | g.19219085C>G | CA404907087 | NCAN | c.244C>G (p.Arg82Gly) | |
| 19 | g.19219085C>T | CA9323252 | NCAN | c.244C>T (p.Arg82Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.19219086G>A | CA9323254 | NCAN | c.245G>A (p.Arg82Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.19219086G>C | CA404907094 | NCAN | c.245G>C (p.Arg82Pro) | |
| 19 | g.19219086G= | CA2326737304 | NCAN | c.245G= (p.Arg82=) | |
| 19 | g.19219086G>T | CA9323253 | NCAN | c.245G>T (p.Arg82Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19219087G>A | CA9323255 | NCAN | c.246G>A (p.Arg82=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19219087G>C | CA506424908 | NCAN | c.246G>C (p.Arg82=) | |
| 19 | g.19219087G= | CA2326737306 | NCAN | c.246G= (p.Arg82=) | |
| 19 | g.19219087G>T | CA506424907 | NCAN | c.246G>T (p.Arg82=) | gnomAD v4 |
| 19 | g.19219088A= | CA2326737157 | NCAN | c.247A= (p.Thr83=) | |
| 19 | g.19219088A>C | CA404907099 | NCAN | c.247A>C (p.Thr83Pro) | |
| 19 | g.19219088A>G | CA404907101 | NCAN | c.247A>G (p.Thr83Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19219088A>T | CA404907104 | NCAN | c.247A>T (p.Thr83Ser) | gnomAD v4 |
| 19 | g.19219089C>A | CA404907106 | NCAN | c.248C>A (p.Thr83Asn) | |
| 19 | g.19219089C>G | CA404907109 | NCAN | c.248C>G (p.Thr83Ser) | |
| 19 | g.19219089C>T | CA404907110 | NCAN | c.248C>T (p.Thr83Ile) | |
| 19 | g.19219090T>A | CA506424911 | NCAN | c.249T>A (p.Thr83=) | |
| 19 | g.19219090T>C | CA506424910 | NCAN | c.249T>C (p.Thr83=) | |
| 19 | g.19219090T>G | CA506424909 | NCAN | c.249T>G (p.Thr83=) | |
| 19 | g.19219091G>A | CA404907113 | NCAN | c.250G>A (p.Ala84Thr) | |
| 19 | g.19219091G>C | CA404907115 | NCAN | c.250G>C (p.Ala84Pro) | |
| 19 | g.19219091G>T | CA404907117 | NCAN | c.250G>T (p.Ala84Ser) | |
| 19 | g.19219092C>A | CA404907120 | NCAN | c.251C>A (p.Ala84Glu) | |
| 19 | g.19219092C= | CA2326737158 | NCAN | c.251C= (p.Ala84=) | |
| 19 | g.19219092C>G | CA404907121 | NCAN | c.251C>G (p.Ala84Gly) | |
| 19 | g.19219092C>T | CA9323256 | NCAN | c.251C>T (p.Ala84Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19219093G>A | CA9323257 | NCAN | c.252G>A (p.Ala84=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19219093G>C | CA506424914 | NCAN | c.252G>C (p.Ala84=) | |
| 19 | g.19219093G= | CA2326737159 | NCAN | c.252G= (p.Ala84=) | |
| 19 | g.19219093G>T | CA506424913 | NCAN | c.252G>T (p.Ala84=) | gnomAD v4 |
| 19 | g.19219094T>A | CA404907129 | NCAN | c.253T>A (p.Ser85Thr) | |
| 19 | g.19219094T>C | CA404907131 | NCAN | c.253T>C (p.Ser85Pro) | gnomAD v4 |
| 19 | g.19219094T>G | CA404907128 | NCAN | c.253T>G (p.Ser85Ala) | |
| 19 | g.19219095C>A | CA404907136 | NCAN | c.254C>A (p.Ser85Ter) | dbSNP |
| 19 | g.19219095C= | CA2326737160 | NCAN | c.254C= (p.Ser85=) | |
| 19 | g.19219095C>G | CA404907133 | NCAN | c.254C>G (p.Ser85Trp) | gnomAD v4 |
| 19 | g.19219095C>T | CA9323258 | NCAN | c.254C>T (p.Ser85Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.19219096G>A | CA506424919 | NCAN | c.255G>A (p.Ser85=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19219096G>C | CA506424918 | NCAN | c.255G>C (p.Ser85=) | |
| 19 | g.19219096G= | CA2326737161 | NCAN | c.255G= (p.Ser85=) | |
| 19 | g.19219096G>T | CA506424917 | NCAN | c.255G>T (p.Ser85=) | |
| 19 | g.19219097G>A | CA404907140 | NCAN | c.256G>A (p.Gly86Ser) | |
| 19 | g.19219097G>C | CA404907141 | NCAN | c.256G>C (p.Gly86Arg) | |
| 19 | g.19219097G>T | CA404907143 | NCAN | c.256G>T (p.Gly86Cys) | gnomAD v4 |
| 19 | g.19219098G>A | CA306284036 | NCAN | c.257G>A (p.Gly86Asp) | dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.19219098G>C | CA404907146 | NCAN | c.257G>C (p.Gly86Ala) | |
| 19 | g.19219098G= | CA2326737162 | NCAN | c.257G= (p.Gly86=) | |
| 19 | g.19219098G>T | CA404907148 | NCAN | c.257G>T (p.Gly86Val) | dbSNP |
| 19 | g.19219099C>A | CA506424925 | NCAN | c.258C>A (p.Gly86=) | |
| 19 | g.19219099C>G | CA506424924 | NCAN | c.258C>G (p.Gly86=) | |
| 19 | g.19219099C>T | CA506424923 | NCAN | c.258C>T (p.Gly86=) | |
| 19 | g.19219100C>A | CA404907150 | NCAN | c.259C>A (p.Gln87Lys) | |
| 19 | g.19219100C>G | CA404907153 | NCAN | c.259C>G (p.Gln87Glu) | |
| 19 | g.19219100C>T | CA404907155 | NCAN | c.259C>T (p.Gln87Ter) | |
| 19 | g.19219101A>C | CA404907158 | NCAN | c.260A>C (p.Gln87Pro) | |
| 19 | g.19219101A>G | CA404907160 | NCAN | c.260A>G (p.Gln87Arg) | gnomAD v4 |
| 19 | g.19219101A>T | CA404907163 | NCAN | c.260A>T (p.Gln87Leu) | |
| 19 | g.19219102G>A | CA506424926 | NCAN | c.261G>A (p.Gln87=) | |
| 19 | g.19219102G>C | CA306284037 | NCAN | c.261G>C (p.Gln87His) | dbSNP |
| 19 | g.19219102G= | CA2326737163 | NCAN | c.261G= (p.Gln87=) | |
| 19 | g.19219102G>T | CA404907165 | NCAN | c.261G>T (p.Gln87His) | |
| 19 | g.19219103C>A | CA506424928 | NCAN | c.262C>A (p.Arg88=) | |
| 19 | g.19219103C= | CA2326737164 | NCAN | c.262C= (p.Arg88=) | |
| 19 | g.19219103C>G | CA404907171 | NCAN | c.262C>G (p.Arg88Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19219103C>T | CA404907168 | NCAN | c.262C>T (p.Arg88Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19219104G>A | CA9323259 | NCAN | c.263G>A (p.Arg88Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19219104G>C | CA404907172 | NCAN | c.263G>C (p.Arg88Pro) | |
| 19 | g.19219104G= | CA2326737165 | NCAN | c.263G= (p.Arg88=) | |
| 19 | g.19219104G>T | CA404907174 | NCAN | c.263G>T (p.Arg88Leu) | gnomAD v4 |
| 19 | g.19219105A>C | CA506424929 | NCAN | c.264A>C (p.Arg88=) | |
| 19 | g.19219105A>G | CA506424931 | NCAN | c.264A>G (p.Arg88=) | |
| 19 | g.19219105A>T | CA506424930 | NCAN | c.264A>T (p.Arg88=) | |
| 19 | g.19219106C>A | CA404907176 | NCAN | c.265C>A (p.Gln89Lys) | |
| 19 | g.19219106C>G | CA404907178 | NCAN | c.265C>G (p.Gln89Glu) | |
| 19 | g.19219106C>T | CA404907180 | NCAN | c.265C>T (p.Gln89Ter) | |
| 19 | g.19219107A>C | CA404907189 | NCAN | c.266A>C (p.Gln89Pro) | |
| 19 | g.19219107A>G | CA404907186 | NCAN | c.266A>G (p.Gln89Arg) | |
| 19 | g.19219107A>T | CA404907187 | NCAN | c.266A>T (p.Gln89Leu) | |
| 19 | g.19219108G>A | CA306284038 | NCAN | c.267G>A (p.Gln89=) | dbSNP gnomAD v4 |
| 19 | g.19219108G>C | CA404907191 | NCAN | c.267G>C (p.Gln89His) | |
| 19 | g.19219108G= | CA2326737166 | NCAN | c.267G= (p.Gln89=) | |
| 19 | g.19219108G>T | CA404907193 | NCAN | c.267G>T (p.Gln89His) | |
| 19 | g.19219109G>A | CA404907195 | NCAN | c.268G>A (p.Asp90Asn) | gnomAD v4 |
| 19 | g.19219109G>C | CA404907198 | NCAN | c.268G>C (p.Asp90His) | |
| 19 | g.19219109G>T | CA404907199 | NCAN | c.268G>T (p.Asp90Tyr) | |
| 19 | g.19219110A>C | CA404907201 | NCAN | c.269A>C (p.Asp90Ala) | |
| 19 | g.19219110A>G | CA404907204 | NCAN | c.269A>G (p.Asp90Gly) | |
| 19 | g.19219110A>T | CA404907203 | NCAN | c.269A>T (p.Asp90Val) | gnomAD v4 |
| 19 | g.19219111C>A | CA404907206 | NCAN | c.270C>A (p.Asp90Glu) | |
| 19 | g.19219111C= | CA2326737167 | NCAN | c.270C= (p.Asp90=) | |
| 19 | g.19219111C>G | CA404907208 | NCAN | c.270C>G (p.Asp90Glu) | |
| 19 | g.19219111C>T | CA506424935 | NCAN | c.270C>T (p.Asp90=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19219112T>A | CA404907210 | NCAN | c.271T>A (p.Leu91Met) | |
| 19 | g.19219112T>C | CA506424936 | NCAN | c.271T>C (p.Leu91=) | |
| 19 | g.19219112T>G | CA404907211 | NCAN | c.271T>G (p.Leu91Val) | |
| 19 | g.19219113T>A | CA404907214 | NCAN | c.272T>A (p.Leu91Ter) | |
| 19 | g.19219113T>C | CA404907216 | NCAN | c.272T>C (p.Leu91Ser) | gnomAD v4 |
| 19 | g.19219113T>G | CA404907218 | NCAN | c.272T>G (p.Leu91Trp) | |
| 19 | g.19219114del | CA2522539162 | NCAN | c.273del (p.Leu91PhefsTer11) | |
| 19 | g.19219114G>A | CA306284040 | NCAN | c.273G>A (p.Leu91=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19219114G>C | CA404907220 | NCAN | c.273G>C (p.Leu91Phe) | |
| 19 | g.19219114G= | CA2326737168 | NCAN | c.273G= (p.Leu91=) | |
| 19 | g.19219114G>T | CA404907223 | NCAN | c.273G>T (p.Leu91Phe) | |
| 19 | g.19219115C>A | CA9323261 | NCAN | c.274C>A (p.Pro92Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19219115C= | CA2326737169 | NCAN | c.274C= (p.Pro92=) | |
| 19 | g.19219115C>G | CA404907226 | NCAN | c.274C>G (p.Pro92Ala) | |
| 19 | g.19219115C>T | CA9323260 | NCAN | c.274C>T (p.Pro92Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.19219116C>A | CA404907236 | NCAN | c.275C>A (p.Pro92His) | gnomAD v4 |
| 19 | g.19219116C>G | CA404907231 | NCAN | c.275C>G (p.Pro92Arg) | |
| 19 | g.19219116C>T | CA404907233 | NCAN | c.275C>T (p.Pro92Leu) | gnomAD v4 |
| 19 | g.19219117C>A | CA506424939 | NCAN | c.276C>A (p.Pro92=) | |
| 19 | g.19219117C= | CA2326737170 | NCAN | c.276C= (p.Pro92=) | |
| 19 | g.19219117C>G | CA506424938 | NCAN | c.276C>G (p.Pro92=) | |
| 19 | g.19219117C>T | CA506424937 | NCAN | c.276C>T (p.Pro92=) | dbSNP |
| 19 | g.19219118A= | CA2326737171 | NCAN | c.277A= (p.Ile93=) | |
| 19 | g.19219118A>C | CA404907238 | NCAN | c.277A>C (p.Ile93Leu) | |
| 19 | g.19219118A>G | CA9323262 | NCAN | c.277A>G (p.Ile93Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.19219118A>T | CA404907243 | NCAN | c.277A>T (p.Ile93Phe) | |
| 19 | g.19219119T>A | CA404907245 | NCAN | c.278T>A (p.Ile93Asn) | |
| 19 | g.19219119T>C | CA404907247 | NCAN | c.278T>C (p.Ile93Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19219119T>G | CA404907250 | NCAN | c.278T>G (p.Ile93Ser) | |
| 19 | g.19219119T= | CA2326737172 | NCAN | c.278T= (p.Ile93=) | |
| 19 | g.19219120C>A | CA506424941 | NCAN | c.279C>A (p.Ile93=) | gnomAD v4 |
| 19 | g.19219120C= | CA2326737173 | NCAN | c.279C= (p.Ile93=) | |
| 19 | g.19219120C>G | CA404907253 | NCAN | c.279C>G (p.Ile93Met) | |
| 19 | g.19219120C>T | CA506424940 | NCAN | c.279C>T (p.Ile93=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.19219121C>A | CA404907255 | NCAN | c.280C>A (p.Leu94Met) | gnomAD v4 |
| 19 | g.19219121C= | CA2326737174 | NCAN | c.280C= (p.Leu94=) | |
| 19 | g.19219121C>G | CA404907258 | NCAN | c.280C>G (p.Leu94Val) | |
| 19 | g.19219121C>T | CA506424942 | NCAN | c.280C>T (p.Leu94=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.19219122T>A | CA404907261 | NCAN | c.281T>A (p.Leu94Gln) | |
| 19 | g.19219122T>C | CA404907263 | NCAN | c.281T>C (p.Leu94Pro) | |
| 19 | g.19219122T>G | CA404907265 | NCAN | c.281T>G (p.Leu94Arg) | |
| 19 | g.19219123G>A | CA506424944 | NCAN | c.282G>A (p.Leu94=) | |
| 19 | g.19219123G>C | CA9323263 | NCAN | c.282G>C (p.Leu94=) | dbSNP ExAC gnomAD v4 |
| 19 | g.19219123G= | CA2326737175 | NCAN | c.282G= (p.Leu94=) | |
| 19 | g.19219123G>T | CA506424943 | NCAN | c.282G>T (p.Leu94=) | gnomAD v4 |
| 19 | g.19219124G>A | CA404907274 | NCAN | c.283G>A (p.Val95Met) | |
| 19 | g.19219124G>C | CA404907269 | NCAN | c.283G>C (p.Val95Leu) | |
| 19 | g.19219124G>T | CA404907271 | NCAN | c.283G>T (p.Val95Leu) | |
| 19 | g.19219125T>A | CA404907275 | NCAN | c.284T>A (p.Val95Glu) | |
| 19 | g.19219125T>C | CA404907278 | NCAN | c.284T>C (p.Val95Ala) | |
| 19 | g.19219125T>G | CA404907281 | NCAN | c.284T>G (p.Val95Gly) | gnomAD v4 |
| 19 | g.19219126G>A | CA506424945 | NCAN | c.285G>A (p.Val95=) | gnomAD v4 |
| 19 | g.19219126G>C | CA506424946 | NCAN | c.285G>C (p.Val95=) | |
| 19 | g.19219126G>T | CA506424947 | NCAN | c.285G>T (p.Val95=) | |
| 19 | g.19219127G>A | CA404907287 | NCAN | c.286G>A (p.Ala96Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.19219127G>C | CA404907285 | NCAN | c.286G>C (p.Ala96Pro) | |
| 19 | g.19219127G= | CA2326737176 | NCAN | c.286G= (p.Ala96=) | |
| 19 | g.19219127G>T | CA404907284 | NCAN | c.286G>T (p.Ala96Ser) | |
| 19 | g.19219128C>A | CA404907291 | NCAN | c.287C>A (p.Ala96Asp) | |
| 19 | g.19219128C>G | CA404907293 | NCAN | c.287C>G (p.Ala96Gly) | |
| 19 | g.19219128C>T | CA404907295 | NCAN | c.287C>T (p.Ala96Val) | gnomAD v4 |