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 |
|---|---|---|---|---|---|
| 15 | g.96332259_96332270del | CA2630531610 | NR2F2 | c.154_165del (p.Pro52_Thr55del) c.44-1817_44-1806del (n.44-1817_44-1806del) | gnomAD v4 |
| 15 | g.96332258G>A | CA7750660 | NR2F2 | c.153G>A (p.Thr51=) c.44-1818G>A (n.44-1818G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.96332258G>C | CA492689399 | NR2F2 | c.153G>C (p.Thr51=) c.44-1818G>C (n.44-1818G>C) | |
| 15 | g.96332258G= | CA2198009432 | NR2F2 | c.153G= (p.Thr51=) c.44-1818G= (n.44-1818G=) | |
| 15 | g.96332258G>T | CA492689400 | NR2F2 | c.153G>T (p.Thr51=) c.44-1818G>T (n.44-1818G>T) | dbSNP |
| 15 | g.96332259C>A | CA393929717 | NR2F2 | c.154C>A (p.Pro52Thr) c.44-1817C>A (n.44-1817C>A) | gnomAD v4 |
| 15 | g.96332259C>G | CA393929718 | NR2F2 | c.154C>G (p.Pro52Ala) c.44-1817C>G (n.44-1817C>G) | |
| 15 | g.96332259C>T | CA393929719 | NR2F2 | c.154C>T (p.Pro52Ser) c.44-1817C>T (n.44-1817C>T) | gnomAD v4 |
| 15 | g.96332260C>A | CA393929720 | NR2F2 | c.155C>A (p.Pro52Gln) c.44-1816C>A (n.44-1816C>A) | |
| 15 | g.96332260C>G | CA393929721 | NR2F2 | c.155C>G (p.Pro52Arg) c.44-1816C>G (n.44-1816C>G) | |
| 15 | g.96332260C>T | CA393929722 | NR2F2 | c.155C>T (p.Pro52Leu) c.44-1816C>T (n.44-1816C>T) | |
| 15 | g.96332261A= | CA2198009434 | NR2F2 | c.156A= (p.Pro52=) c.44-1815A= (n.44-1815A=) | |
| 15 | g.96332261A>C | CA492689404 | NR2F2 | c.156A>C (p.Pro52=) c.44-1815A>C (n.44-1815A>C) | dbSNP gnomAD v4 |
| 15 | g.96332261A>G | CA492689405 | NR2F2 | c.156A>G (p.Pro52=) c.44-1815A>G (n.44-1815A>G) | gnomAD v4 |
| 15 | g.96332261A>T | CA492689406 | NR2F2 | c.156A>T (p.Pro52=) c.44-1815A>T (n.44-1815A>T) | |
| 15 | g.96332262G>A | CA393929725 | NR2F2 | c.157G>A (p.Ala53Thr) c.44-1814G>A (n.44-1814G>A) | dbSNP |
| 15 | g.96332262G>C | CA393929723 | NR2F2 | c.157G>C (p.Ala53Pro) c.44-1814G>C (n.44-1814G>C) | |
| 15 | g.96332262G= | CA2198009437 | NR2F2 | c.157G= (p.Ala53=) c.44-1814G= (n.44-1814G=) | |
| 15 | g.96332262G>T | CA393929724 | NR2F2 | c.157G>T (p.Ala53Ser) c.44-1814G>T (n.44-1814G>T) | gnomAD v4 |
| 15 | g.96332263C>A | CA393929726 | NR2F2 | c.158C>A (p.Ala53Asp) c.44-1813C>A (n.44-1813C>A) | |
| 15 | g.96332263C>G | CA393929727 | NR2F2 | c.158C>G (p.Ala53Gly) c.44-1813C>G (n.44-1813C>G) | |
| 15 | g.96332263C>T | CA393929728 | NR2F2 | c.158C>T (p.Ala53Val) c.44-1813C>T (n.44-1813C>T) | |
| 15 | g.96332264C>A | CA492689409 | NR2F2 | c.159C>A (p.Ala53=) c.44-1812C>A (n.44-1812C>A) | dbSNP gnomAD v4 |
| 15 | g.96332264C= | CA2198009439 | NR2F2 | c.159C= (p.Ala53=) c.44-1812C= (n.44-1812C=) | |
| 15 | g.96332264C>G | CA492689410 | NR2F2 | c.159C>G (p.Ala53=) c.44-1812C>G (n.44-1812C>G) | |
| 15 | g.96332264C>T | CA492689411 | NR2F2 | c.159C>T (p.Ala53=) c.44-1812C>T (n.44-1812C>T) | |
| 15 | g.96332265C>A | CA393929729 | NR2F2 | c.160C>A (p.Gln54Lys) c.44-1811C>A (n.44-1811C>A) | gnomAD v4 |
| 15 | g.96332265C>G | CA393929730 | NR2F2 | c.160C>G (p.Gln54Glu) c.44-1811C>G (n.44-1811C>G) | |
| 15 | g.96332265C>T | CA393929731 | NR2F2 | c.160C>T (p.Gln54Ter) c.44-1811C>T (n.44-1811C>T) | |
| 15 | g.96332266A>C | CA393929732 | NR2F2 | c.161A>C (p.Gln54Pro) c.44-1810A>C (n.44-1810A>C) | |
| 15 | g.96332266A>G | CA393929733 | NR2F2 | c.161A>G (p.Gln54Arg) c.44-1810A>G (n.44-1810A>G) | |
| 15 | g.96332266A>T | CA393929734 | NR2F2 | c.161A>T (p.Gln54Leu) c.44-1810A>T (n.44-1810A>T) | |
| 15 | g.96332267G>A | CA492689415 | NR2F2 | c.162G>A (p.Gln54=) c.44-1809G>A (n.44-1809G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.96332267G>C | CA393929735 | NR2F2 | c.162G>C (p.Gln54His) c.44-1809G>C (n.44-1809G>C) | ClinVar |
| 15 | g.96332267G= | CA2198009441 | NR2F2 | c.162G= (p.Gln54=) c.44-1809G= (n.44-1809G=) | |
| 15 | g.96332267G>T | CA393929736 | NR2F2 | c.162G>T (p.Gln54His) c.44-1809G>T (n.44-1809G>T) | |
| 15 | g.96332268A>C | CA393929737 | NR2F2 | c.163A>C (p.Thr55Pro) c.44-1808A>C (n.44-1808A>C) | |
| 15 | g.96332268A>G | CA393929739 | NR2F2 | c.163A>G (p.Thr55Ala) c.44-1808A>G (n.44-1808A>G) | gnomAD v4 |
| 15 | g.96332268A>T | CA393929738 | NR2F2 | c.163A>T (p.Thr55Ser) c.44-1808A>T (n.44-1808A>T) | |
| 15 | g.96332269C>A | CA393929740 | NR2F2 | c.164C>A (p.Thr55Lys) c.44-1807C>A (n.44-1807C>A) | dbSNP |
| 15 | g.96332269C= | CA2198009446 | NR2F2 | c.164C= (p.Thr55=) c.44-1807C= (n.44-1807C=) | |
| 15 | g.96332269C>G | CA393929741 | NR2F2 | c.164C>G (p.Thr55Arg) c.44-1807C>G (n.44-1807C>G) | |
| 15 | g.96332269C>T | CA7750661 | NR2F2 | c.164C>T (p.Thr55Met) c.44-1807C>T (n.44-1807C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.96332270G>A | CA492689419 | NR2F2 | c.165G>A (p.Thr55=) c.44-1806G>A (n.44-1806G>A) | gnomAD v4 |
| 15 | g.96332270G>C | CA492689422 | NR2F2 | c.165G>C (p.Thr55=) c.44-1806G>C (n.44-1806G>C) | |
| 15 | g.96332270G>T | CA492689420 | NR2F2 | c.165G>T (p.Thr55=) c.44-1806G>T (n.44-1806G>T) | |
| 15 | g.96332271G>A | CA393929742 | NR2F2 | c.166G>A (p.Ala56Thr) c.44-1805G>A (n.44-1805G>A) | |
| 15 | g.96332271G>C | CA393929743 | NR2F2 | c.166G>C (p.Ala56Pro) c.44-1805G>C (n.44-1805G>C) | |
| 15 | g.96332271G>T | CA393929744 | NR2F2 | c.166G>T (p.Ala56Ser) c.44-1805G>T (n.44-1805G>T) | |
| 15 | g.96332272C>A | CA393929745 | NR2F2 | c.167C>A (p.Ala56Glu) c.44-1804C>A (n.44-1804C>A) | gnomAD v4 |
| 15 | g.96332272C>G | CA393929746 | NR2F2 | c.167C>G (p.Ala56Gly) c.44-1804C>G (n.44-1804C>G) | |
| 15 | g.96332272C>T | CA393929747 | NR2F2 | c.167C>T (p.Ala56Val) c.44-1804C>T (n.44-1804C>T) | gnomAD v4 |
| 15 | g.96332273G>A | CA276170320 | NR2F2 | c.168G>A (p.Ala56=) c.44-1803G>A (n.44-1803G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.96332273G>C | CA492689429 | NR2F2 | c.168G>C (p.Ala56=) c.44-1803G>C (n.44-1803G>C) | |
| 15 | g.96332273G= | CA2198009449 | NR2F2 | c.168G= (p.Ala56=) c.44-1803G= (n.44-1803G=) | |
| 15 | g.96332273G>T | CA492689431 | NR2F2 | c.168G>T (p.Ala56=) c.44-1803G>T (n.44-1803G>T) | gnomAD v4 |
| 15 | g.96332274G>A | CA393929748 | NR2F2 | c.169G>A (p.Ala57Thr) c.44-1802G>A (n.44-1802G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.96332274G>C | CA393929749 | NR2F2 | c.169G>C (p.Ala57Pro) c.44-1802G>C (n.44-1802G>C) | |
| 15 | g.96332274G= | CA2198009453 | NR2F2 | c.169G= (p.Ala57=) c.44-1802G= (n.44-1802G=) | |
| 15 | g.96332274G>T | CA393929750 | NR2F2 | c.169G>T (p.Ala57Ser) c.44-1802G>T (n.44-1802G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.96332275C>A | CA393929751 | NR2F2 | c.170C>A (p.Ala57Asp) c.44-1801C>A (n.44-1801C>A) | gnomAD v4 |
| 15 | g.96332275C>G | CA393929752 | NR2F2 | c.170C>G (p.Ala57Gly) c.44-1801C>G (n.44-1801C>G) | |
| 15 | g.96332275C>T | CA393929753 | NR2F2 | c.170C>T (p.Ala57Val) c.44-1801C>T (n.44-1801C>T) | gnomAD v4 |
| 15 | g.96332276C>A | CA492689436 | NR2F2 | c.171C>A (p.Ala57=) c.44-1800C>A (n.44-1800C>A) | gnomAD v4 |
| 15 | g.96332276C>G | CA492689437 | NR2F2 | c.171C>G (p.Ala57=) c.44-1800C>G (n.44-1800C>G) | |
| 15 | g.96332276C>T | CA492689438 | NR2F2 | c.171C>T (p.Ala57=) c.44-1800C>T (n.44-1800C>T) | gnomAD v4 |
| 15 | g.96332277G>A | CA7750662 | NR2F2 | c.172G>A (p.Gly58Ser) c.44-1799G>A (n.44-1799G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332277G>C | CA393929755 | NR2F2 | c.172G>C (p.Gly58Arg) c.44-1799G>C (n.44-1799G>C) | ClinVar dbSNP |
| 15 | g.96332277G= | CA2198009459 | NR2F2 | c.172G= (p.Gly58=) c.44-1799G= (n.44-1799G=) | |
| 15 | g.96332277G>T | CA393929754 | NR2F2 | c.172G>T (p.Gly58Cys) c.44-1799G>T (n.44-1799G>T) | |
| 15 | g.96332278G>A | CA7750663 | NR2F2 | c.173G>A (p.Gly58Asp) c.44-1798G>A (n.44-1798G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332278G>C | CA393929756 | NR2F2 | c.173G>C (p.Gly58Ala) c.44-1798G>C (n.44-1798G>C) | gnomAD v4 |
| 15 | g.96332278G= | CA2198009463 | NR2F2 | c.173G= (p.Gly58=) c.44-1798G= (n.44-1798G=) | |
| 15 | g.96332278G>T | CA393929757 | NR2F2 | c.173G>T (p.Gly58Val) c.44-1798G>T (n.44-1798G>T) | |
| 15 | g.96332279T>A | CA492689439 | NR2F2 | c.174T>A (p.Gly58=) c.44-1797T>A (n.44-1797T>A) | |
| 15 | g.96332279T>C | CA492689441 | NR2F2 | c.174T>C (p.Gly58=) c.44-1797T>C (n.44-1797T>C) | |
| 15 | g.96332279T>G | CA492689442 | NR2F2 | c.174T>G (p.Gly58=) c.44-1797T>G (n.44-1797T>G) | |
| 15 | g.96332279_96332288delinsTGGCCAGGGC | CA2198009467 | NR2F2 | c.174_183delinsTGGCCAGGGC (p.Gly58=) c.44-1797_44-1788delinsTGGCCAGGGC (n.44-1797_44-1788delinsTGGCCAGGGC) | |
| 15 | g.96332280G>A | CA393929758 | NR2F2 | c.175G>A (p.Gly59Ser) c.44-1796G>A (n.44-1796G>A) | |
| 15 | g.96332280G>C | CA393929759 | NR2F2 | c.175G>C (p.Gly59Arg) c.44-1796G>C (n.44-1796G>C) | |
| 15 | g.96332280G>T | CA393929760 | NR2F2 | c.175G>T (p.Gly59Cys) c.44-1796G>T (n.44-1796G>T) | gnomAD v4 |
| 15 | g.96332284_96332292del | CA620299035 | NR2F2 | c.179_187del (p.Gln60_Gly62del) c.44-1792_44-1784del (n.44-1792_44-1784del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332281G>A | CA393929761 | NR2F2 | c.176G>A (p.Gly59Asp) c.44-1795G>A (n.44-1795G>A) | |
| 15 | g.96332281G>C | CA393929762 | NR2F2 | c.176G>C (p.Gly59Ala) c.44-1795G>C (n.44-1795G>C) | |
| 15 | g.96332281G>T | CA393929763 | NR2F2 | c.176G>T (p.Gly59Val) c.44-1795G>T (n.44-1795G>T) | |
| 15 | g.96332282C>A | CA492689447 | NR2F2 | c.177C>A (p.Gly59=) c.44-1794C>A (n.44-1794C>A) | gnomAD v4 |
| 15 | g.96332282C>G | CA492689451 | NR2F2 | c.177C>G (p.Gly59=) c.44-1794C>G (n.44-1794C>G) | |
| 15 | g.96332282C>T | CA492689449 | NR2F2 | c.177C>T (p.Gly59=) c.44-1794C>T (n.44-1794C>T) | gnomAD v4 |
| 15 | g.96332283C>A | CA393929765 | NR2F2 | c.178C>A (p.Gln60Lys) c.44-1793C>A (n.44-1793C>A) | |
| 15 | g.96332283C>G | CA393929766 | NR2F2 | c.178C>G (p.Gln60Glu) c.44-1793C>G (n.44-1793C>G) | |
| 15 | g.96332283C>T | CA393929764 | NR2F2 | c.178C>T (p.Gln60Ter) c.44-1793C>T (n.44-1793C>T) | |
| 15 | g.96332284A>C | CA393929767 | NR2F2 | c.179A>C (p.Gln60Pro) c.44-1792A>C (n.44-1792A>C) | gnomAD v4 |
| 15 | g.96332284A>G | CA393929768 | NR2F2 | c.179A>G (p.Gln60Arg) c.44-1792A>G (n.44-1792A>G) | |
| 15 | g.96332284A>T | CA393929769 | NR2F2 | c.179A>T (p.Gln60Leu) c.44-1792A>T (n.44-1792A>T) | |
| 15 | g.96332285G>A | CA492689454 | NR2F2 | c.180G>A (p.Gln60=) c.44-1791G>A (n.44-1791G>A) | |
| 15 | g.96332285G>C | CA393929770 | NR2F2 | c.180G>C (p.Gln60His) c.44-1791G>C (n.44-1791G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.96332285G= | CA2198009471 | NR2F2 | c.180G= (p.Gln60=) c.44-1791G= (n.44-1791G=) | |
| 15 | g.96332285G>T | CA393929771 | NR2F2 | c.180G>T (p.Gln60His) c.44-1791G>T (n.44-1791G>T) | gnomAD v4 |
| 15 | g.96332286G>A | CA393929774 | NR2F2 | c.181G>A (p.Gly61Ser) c.44-1790G>A (n.44-1790G>A) | |
| 15 | g.96332286G>C | CA393929773 | NR2F2 | c.181G>C (p.Gly61Arg) c.44-1790G>C (n.44-1790G>C) | |
| 15 | g.96332286G>T | CA393929772 | NR2F2 | c.181G>T (p.Gly61Cys) c.44-1790G>T (n.44-1790G>T) | |
| 15 | g.96332294_96332302dup | CA2630531611 | NR2F2 | c.189_197dup (p.Pro66_Gly67insGlyGlyPro) c.44-1782_44-1774dup (n.44-1782_44-1774dup) | gnomAD v4 |
| 15 | g.96332294_96332302del | CA2630531612 | NR2F2 | c.189_197del (p.Gly64_Pro66del) c.44-1782_44-1774del (n.44-1782_44-1774del) | gnomAD v4 |
| 15 | g.96332287G>A | CA393929775 | NR2F2 | c.182G>A (p.Gly61Asp) c.44-1789G>A (n.44-1789G>A) | gnomAD v4 |
| 15 | g.96332287G>C | CA393929776 | NR2F2 | c.182G>C (p.Gly61Ala) c.44-1789G>C (n.44-1789G>C) | |
| 15 | g.96332287G>T | CA393929777 | NR2F2 | c.182G>T (p.Gly61Val) c.44-1789G>T (n.44-1789G>T) | gnomAD v4 |
| 15 | g.96332288C>A | CA492689456 | NR2F2 | c.183C>A (p.Gly61=) c.44-1788C>A (n.44-1788C>A) | gnomAD v4 |
| 15 | g.96332288C>G | CA492689457 | NR2F2 | c.183C>G (p.Gly61=) c.44-1788C>G (n.44-1788C>G) | |
| 15 | g.96332288C>T | CA492689459 | NR2F2 | c.183C>T (p.Gly61=) c.44-1788C>T (n.44-1788C>T) | gnomAD v4 |
| 15 | g.96332289G>A | CA393929778 | NR2F2 | c.184G>A (p.Gly62Ser) c.44-1787G>A (n.44-1787G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332289G>C | CA393929779 | NR2F2 | c.184G>C (p.Gly62Arg) c.44-1787G>C (n.44-1787G>C) | |
| 15 | g.96332289G= | CA2198009473 | NR2F2 | c.184G= (p.Gly62=) c.44-1787G= (n.44-1787G=) | |
| 15 | g.96332289G>T | CA393929780 | NR2F2 | c.184G>T (p.Gly62Cys) c.44-1787G>T (n.44-1787G>T) | |
| 15 | g.96332289_96332306dup | CA2630531613 | NR2F2 | c.184_201dup (p.Gly67_Ser68insGlyProGlyGlyProGly) c.44-1787_44-1770dup (n.44-1787_44-1770dup) | gnomAD v4 |
| 15 | g.96332290G>A | CA393929781 | NR2F2 | c.185G>A (p.Gly62Asp) c.44-1786G>A (n.44-1786G>A) | dbSNP |
| 15 | g.96332290G>C | CA393929783 | NR2F2 | c.185G>C (p.Gly62Ala) c.44-1786G>C (n.44-1786G>C) | |
| 15 | g.96332290G= | CA2198009475 | NR2F2 | c.185G= (p.Gly62=) c.44-1786G= (n.44-1786G=) | |
| 15 | g.96332290G>T | CA393929782 | NR2F2 | c.185G>T (p.Gly62Val) c.44-1786G>T (n.44-1786G>T) | gnomAD v4 |
| 15 | g.96332291C>A | CA492689464 | NR2F2 | c.186C>A (p.Gly62=) c.44-1785C>A (n.44-1785C>A) | gnomAD v4 |
| 15 | g.96332291C>G | CA492689463 | NR2F2 | c.186C>G (p.Gly62=) c.44-1785C>G (n.44-1785C>G) | |
| 15 | g.96332291C>T | CA492689462 | NR2F2 | c.186C>T (p.Gly62=) c.44-1785C>T (n.44-1785C>T) | gnomAD v4 |
| 15 | g.96332292C>A | CA393929784 | NR2F2 | c.187C>A (p.Pro63Thr) c.44-1784C>A (n.44-1784C>A) | gnomAD v4 |
| 15 | g.96332292C>G | CA393929785 | NR2F2 | c.187C>G (p.Pro63Ala) c.44-1784C>G (n.44-1784C>G) | |
| 15 | g.96332292C>T | CA393929786 | NR2F2 | c.187C>T (p.Pro63Ser) c.44-1784C>T (n.44-1784C>T) | |
| 15 | g.96332293C>A | CA393929787 | NR2F2 | c.188C>A (p.Pro63His) c.44-1783C>A (n.44-1783C>A) | gnomAD v4 |
| 15 | g.96332293C= | CA2198009478 | NR2F2 | c.188C= (p.Pro63=) c.44-1783C= (n.44-1783C=) | |
| 15 | g.96332293C>G | CA393929788 | NR2F2 | c.188C>G (p.Pro63Arg) c.44-1783C>G (n.44-1783C>G) | |
| 15 | g.96332293C>T | CA7750664 | NR2F2 | c.188C>T (p.Pro63Leu) c.44-1783C>T (n.44-1783C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332294T>A | CA492689468 | NR2F2 | c.189T>A (p.Pro63=) c.44-1782T>A (n.44-1782T>A) | |
| 15 | g.96332294T>C | CA492689469 | NR2F2 | c.189T>C (p.Pro63=) c.44-1782T>C (n.44-1782T>C) | |
| 15 | g.96332294T>G | CA492689470 | NR2F2 | c.189T>G (p.Pro63=) c.44-1782T>G (n.44-1782T>G) | |
| 15 | g.96332295G>A | CA393929789 | NR2F2 | c.190G>A (p.Gly64Ser) c.44-1781G>A (n.44-1781G>A) | gnomAD v4 |
| 15 | g.96332295G>C | CA393929790 | NR2F2 | c.190G>C (p.Gly64Arg) c.44-1781G>C (n.44-1781G>C) | |
| 15 | g.96332295G>T | CA393929791 | NR2F2 | c.190G>T (p.Gly64Cys) c.44-1781G>T (n.44-1781G>T) | |
| 15 | g.96332296G>A | CA393929792 | NR2F2 | c.191G>A (p.Gly64Asp) c.44-1780G>A (n.44-1780G>A) | gnomAD v4 |
| 15 | g.96332296G>C | CA393929793 | NR2F2 | c.191G>C (p.Gly64Ala) c.44-1780G>C (n.44-1780G>C) | |
| 15 | g.96332296G>T | CA393929794 | NR2F2 | c.191G>T (p.Gly64Val) c.44-1780G>T (n.44-1780G>T) | |
| 15 | g.96332297C>A | CA7750665 | NR2F2 | c.192C>A (p.Gly64=) c.44-1779C>A (n.44-1779C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332297C= | CA2198009484 | NR2F2 | c.192C= (p.Gly64=) c.44-1779C= (n.44-1779C=) | |
| 15 | g.96332297C>G | CA492689139 | NR2F2 | c.192C>G (p.Gly64=) c.44-1779C>G (n.44-1779C>G) | |
| 15 | g.96332297C>T | CA492689140 | NR2F2 | c.192C>T (p.Gly64=) c.44-1779C>T (n.44-1779C>T) | gnomAD v4 |
| 15 | g.96332298G>A | CA393929796 | NR2F2 | c.193G>A (p.Gly65Ser) c.44-1778G>A (n.44-1778G>A) | dbSNP gnomAD v2 |
| 15 | g.96332298G>C | CA393929795 | NR2F2 | c.193G>C (p.Gly65Arg) c.44-1778G>C (n.44-1778G>C) | |
| 15 | g.96332298G= | CA2198009488 | NR2F2 | c.193G= (p.Gly65=) c.44-1778G= (n.44-1778G=) | |
| 15 | g.96332298G>T | CA393929797 | NR2F2 | c.193G>T (p.Gly65Cys) c.44-1778G>T (n.44-1778G>T) | |
| 15 | g.96332298_96332306del | CA2630531614 | NR2F2 | c.193_201del (p.Gly65_Gly67del) c.44-1778_44-1770del (n.44-1778_44-1770del) | gnomAD v4 |
| 15 | g.96332298_96332306dup | CA620299036 | NR2F2 | c.193_201dup (p.Gly67_Ser68insGlyProGly) c.44-1778_44-1770dup (n.44-1778_44-1770dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332299G>A | CA393929798 | NR2F2 | c.194G>A (p.Gly65Asp) c.44-1777G>A (n.44-1777G>A) | gnomAD v4 |
| 15 | g.96332299G>C | CA393929800 | NR2F2 | c.194G>C (p.Gly65Ala) c.44-1777G>C (n.44-1777G>C) | |
| 15 | g.96332299G>T | CA393929799 | NR2F2 | c.194G>T (p.Gly65Val) c.44-1777G>T (n.44-1777G>T) | |
| 15 | g.96332301_96332309del | CA2630531615 | NR2F2 | c.196_204del (p.Pro66_Ser68del) c.44-1775_44-1767del (n.44-1775_44-1767del) | gnomAD v4 |
| 15 | g.96332300C>A | CA492689143 | NR2F2 | c.195C>A (p.Gly65=) c.44-1776C>A (n.44-1776C>A) | gnomAD v4 |
| 15 | g.96332300C>G | CA492689144 | NR2F2 | c.195C>G (p.Gly65=) c.44-1776C>G (n.44-1776C>G) | |
| 15 | g.96332300C>T | CA492689145 | NR2F2 | c.195C>T (p.Gly65=) c.44-1776C>T (n.44-1776C>T) | gnomAD v4 |
| 15 | g.96332301C>A | CA393929801 | NR2F2 | c.196C>A (p.Pro66Thr) c.44-1775C>A (n.44-1775C>A) | gnomAD v4 |
| 15 | g.96332301C= | CA2198009491 | NR2F2 | c.196C= (p.Pro66=) c.44-1775C= (n.44-1775C=) | |
| 15 | g.96332301C>G | CA393929802 | NR2F2 | c.196C>G (p.Pro66Ala) c.44-1775C>G (n.44-1775C>G) | dbSNP gnomAD v2 |
| 15 | g.96332301C>T | CA393929803 | NR2F2 | c.196C>T (p.Pro66Ser) c.44-1775C>T (n.44-1775C>T) | gnomAD v4 |
| 15 | g.96332302C>A | CA276170321 | NR2F2 | c.197C>A (p.Pro66Gln) c.44-1774C>A (n.44-1774C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.96332302C= | CA2198009494 | NR2F2 | c.197C= (p.Pro66=) c.44-1774C= (n.44-1774C=) | |
| 15 | g.96332302C>G | CA393929804 | NR2F2 | c.197C>G (p.Pro66Arg) c.44-1774C>G (n.44-1774C>G) | |
| 15 | g.96332302C>T | CA393929805 | NR2F2 | c.197C>T (p.Pro66Leu) c.44-1774C>T (n.44-1774C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332303G>A | CA492689147 | NR2F2 | c.198G>A (p.Pro66=) c.44-1773G>A (n.44-1773G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332303G>C | CA492689148 | NR2F2 | c.198G>C (p.Pro66=) c.44-1773G>C (n.44-1773G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.96332303G= | CA2198009497 | NR2F2 | c.198G= (p.Pro66=) c.44-1773G= (n.44-1773G=) | |
| 15 | g.96332303G>T | CA492689149 | NR2F2 | c.198G>T (p.Pro66=) c.44-1773G>T (n.44-1773G>T) | gnomAD v4 |
| 15 | g.96332304G>A | CA393929806 | NR2F2 | c.199G>A (p.Gly67Ser) c.44-1772G>A (n.44-1772G>A) | gnomAD v4 |
| 15 | g.96332304G>C | CA7750666 | NR2F2 | c.199G>C (p.Gly67Arg) c.44-1772G>C (n.44-1772G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332304G= | CA2198009500 | NR2F2 | c.199G= (p.Gly67=) c.44-1772G= (n.44-1772G=) | |
| 15 | g.96332304G>T | CA393929807 | NR2F2 | c.199G>T (p.Gly67Cys) c.44-1772G>T (n.44-1772G>T) | gnomAD v4 |
| 15 | g.96332304_96332305insATGGGCGTGATGGGCGTGATGGGCGTGATGGGCGCCGTGATGGTCAGATGCCTGGCCAGGAT | CA2507262885 | NR2F2 | c.199_200insATGGGCGTGATGGGCGTGATGGGCGTGATGGGCGCCGTGATGGTCAGATGCCTGGCCAGGAT (p.Gly67AspfsTer?) c.44-1772_44-1771insATGGGCGTGATGGGCGTGATGGGCGTGATGGGCGCCGTGATGGTCAGATGCCTGGCCAGGAT (n.44-1772_44-1771insATGGGCGTGATGGGCGTGATGGGCGTGATGGGCGCCGTGATGGTCAGATGCCTGGCCAGGAT) | |
| 15 | g.96332305G>A | CA393929808 | NR2F2 | c.200G>A (p.Gly67Asp) c.44-1771G>A (n.44-1771G>A) | dbSNP gnomAD v2 |
| 15 | g.96332305G>C | CA393929809 | NR2F2 | c.200G>C (p.Gly67Ala) c.44-1771G>C (n.44-1771G>C) | |
| 15 | g.96332305G= | CA2198009502 | NR2F2 | c.200G= (p.Gly67=) c.44-1771G= (n.44-1771G=) | |
| 15 | g.96332305G>T | CA393929810 | NR2F2 | c.200G>T (p.Gly67Val) c.44-1771G>T (n.44-1771G>T) | |
| 15 | g.96332305_96332306del | CA2516217425 | NR2F2 | c.200_201del (p.Gly67GlufsTer?) c.44-1771_44-1770del (n.44-1771_44-1770del) | |
| 15 | g.96332306T>A | CA492689153 | NR2F2 | c.201T>A (p.Gly67=) c.44-1770T>A (n.44-1770T>A) | |
| 15 | g.96332306T>C | CA492689154 | NR2F2 | c.201T>C (p.Gly67=) c.44-1770T>C (n.44-1770T>C) | COSMIC |
| 15 | g.96332306T>G | CA492689155 | NR2F2 | c.201T>G (p.Gly67=) c.44-1770T>G (n.44-1770T>G) | dbSNP gnomAD v4 |
| 15 | g.96332306T= | CA2198009505 | NR2F2 | c.201T= (p.Gly67=) c.44-1770T= (n.44-1770T=) | |
| 15 | g.96332307A= | CA2198009511 | NR2F2 | c.202A= (p.Ser68=) c.44-1769A= (n.44-1769A=) | |
| 15 | g.96332307A>C | CA393929812 | NR2F2 | c.202A>C (p.Ser68Arg) c.44-1769A>C (n.44-1769A>C) | |
| 15 | g.96332307A>G | CA276170322 | NR2F2 | c.202A>G (p.Ser68Gly) c.44-1769A>G (n.44-1769A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.96332307A>T | CA393929811 | NR2F2 | c.202A>T (p.Ser68Cys) c.44-1769A>T (n.44-1769A>T) | |
| 15 | g.96332307_96332308insTGG | CA2540497747 | NR2F2 | c.202_203insTGG (p.Ser68delinsMetGly) c.44-1769_44-1768insTGG (n.44-1769_44-1768insTGG) | |
| 15 | g.96332308G>A | CA393929813 | NR2F2 | c.203G>A (p.Ser68Asn) c.44-1768G>A (n.44-1768G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332308G>C | CA393929814 | NR2F2 | c.203G>C (p.Ser68Thr) c.44-1768G>C (n.44-1768G>C) | |
| 15 | g.96332308G= | CA2198009515 | NR2F2 | c.203G= (p.Ser68=) c.44-1768G= (n.44-1768G=) | |
| 15 | g.96332308G>T | CA276170323 | NR2F2 | c.203G>T (p.Ser68Ile) c.44-1768G>T (n.44-1768G>T) | dbSNP |
| 15 | g.96332309C>A | CA393929815 | NR2F2 | c.204C>A (p.Ser68Arg) c.44-1767C>A (n.44-1767C>A) | gnomAD v4 |
| 15 | g.96332309C= | CA2198009519 | NR2F2 | c.204C= (p.Ser68=) c.44-1767C= (n.44-1767C=) | |
| 15 | g.96332309C>G | CA393929816 | NR2F2 | c.204C>G (p.Ser68Arg) c.44-1767C>G (n.44-1767C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.96332309C>T | CA492689159 | NR2F2 | c.204C>T (p.Ser68=) c.44-1767C>T (n.44-1767C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.96332310G>A | CA393929817 | NR2F2 | c.205G>A (p.Asp69Asn) c.44-1766G>A (n.44-1766G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.96332310G>C | CA393929818 | NR2F2 | c.205G>C (p.Asp69His) c.44-1766G>C (n.44-1766G>C) | gnomAD v4 |
| 15 | g.96332310G= | CA2198009521 | NR2F2 | c.205G= (p.Asp69=) c.44-1766G= (n.44-1766G=) | |
| 15 | g.96332310G>T | CA393929819 | NR2F2 | c.205G>T (p.Asp69Tyr) c.44-1766G>T (n.44-1766G>T) | gnomAD v4 |
| 15 | g.96332311A>C | CA393929820 | NR2F2 | c.206A>C (p.Asp69Ala) c.44-1765A>C (n.44-1765A>C) | gnomAD v4 |
| 15 | g.96332311A>G | CA393929821 | NR2F2 | c.206A>G (p.Asp69Gly) c.44-1765A>G (n.44-1765A>G) | gnomAD v4 |
| 15 | g.96332311A>T | CA393929822 | NR2F2 | c.206A>T (p.Asp69Val) c.44-1765A>T (n.44-1765A>T) | |
| 15 | g.96332312C>A | CA393929823 | NR2F2 | c.207C>A (p.Asp69Glu) c.44-1764C>A (n.44-1764C>A) | gnomAD v4 |
| 15 | g.96332312C>G | CA393929824 | NR2F2 | c.207C>G (p.Asp69Glu) c.44-1764C>G (n.44-1764C>G) | gnomAD v4 |
| 15 | g.96332312C>T | CA492689160 | NR2F2 | c.207C>T (p.Asp69=) c.44-1764C>T (n.44-1764C>T) | |
| 15 | g.96332313A>C | CA393929825 | NR2F2 | c.208A>C (p.Lys70Gln) c.44-1763A>C (n.44-1763A>C) | |
| 15 | g.96332313A>G | CA393929826 | NR2F2 | c.208A>G (p.Lys70Glu) c.44-1763A>G (n.44-1763A>G) | |
| 15 | g.96332313A>T | CA393929827 | NR2F2 | c.208A>T (p.Lys70Ter) c.44-1763A>T (n.44-1763A>T) | gnomAD v4 |
| 15 | g.96332313_96332319delinsAAGCAGC | CA2198009523 | NR2F2 | c.208_214delinsAAGCAGC (p.Lys70=) c.44-1763_44-1757delinsAAGCAGC (n.44-1763_44-1757delinsAAGCAGC) | |
| 15 | g.96332314A>C | CA393929828 | NR2F2 | c.209A>C (p.Lys70Thr) c.44-1762A>C (n.44-1762A>C) | |
| 15 | g.96332314A>G | CA393929829 | NR2F2 | c.209A>G (p.Lys70Arg) c.44-1762A>G (n.44-1762A>G) | |
| 15 | g.96332314A>T | CA393929830 | NR2F2 | c.209A>T (p.Lys70Met) c.44-1762A>T (n.44-1762A>T) | |
| 15 | g.96332327_96332329dup | CA151542 | NR2F2 | c.222_224dup (p.Gln75_His76insGln) c.44-1749_44-1747dup (n.44-1749_44-1747dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332324_96332329dup | CA2630531616 | NR2F2 | c.219_224dup (p.Gln75_His76insGlnGln) c.44-1752_44-1747dup (n.44-1752_44-1747dup) | gnomAD v4 |
| 15 | g.96332327_96332329del | CA7750667 | NR2F2 | c.222_224del (p.Gln75del) c.44-1749_44-1747del (n.44-1749_44-1747del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.96332324_96332329del | CA276170324 | NR2F2 | c.219_224del (p.Gln74_Gln75del) c.44-1752_44-1747del (n.44-1752_44-1747del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332315G>A | CA492689173 | NR2F2 | c.210G>A (p.Lys70=) c.44-1761G>A (n.44-1761G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.96332315G>C | CA393929831 | NR2F2 | c.210G>C (p.Lys70Asn) c.44-1761G>C (n.44-1761G>C) | |
| 15 | g.96332315G= | CA2198009530 | NR2F2 | c.210G= (p.Lys70=) c.44-1761G= (n.44-1761G=) | |
| 15 | g.96332315G>T | CA393929832 | NR2F2 | c.210G>T (p.Lys70Asn) c.44-1761G>T (n.44-1761G>T) | |
| 15 | g.96332316C>A | CA393929833 | NR2F2 | c.211C>A (p.Gln71Lys) c.44-1760C>A (n.44-1760C>A) | gnomAD v4 |
| 15 | g.96332316C>G | CA393929834 | NR2F2 | c.211C>G (p.Gln71Glu) c.44-1760C>G (n.44-1760C>G) | |
| 15 | g.96332316C>T | CA393929835 | NR2F2 | c.211C>T (p.Gln71Ter) c.44-1760C>T (n.44-1760C>T) | gnomAD v4 |
| 15 | g.96332317A>C | CA393929836 | NR2F2 | c.212A>C (p.Gln71Pro) c.44-1759A>C (n.44-1759A>C) | |
| 15 | g.96332317A>G | CA393929838 | NR2F2 | c.212A>G (p.Gln71Arg) c.44-1759A>G (n.44-1759A>G) | |
| 15 | g.96332317A>T | CA393929837 | NR2F2 | c.212A>T (p.Gln71Leu) c.44-1759A>T (n.44-1759A>T) | |
| 15 | g.96332318G>A | CA276170325 | NR2F2 | c.213G>A (p.Gln71=) c.44-1758G>A (n.44-1758G>A) | dbSNP gnomAD v4 |
| 15 | g.96332318G>C | CA393929839 | NR2F2 | c.213G>C (p.Gln71His) c.44-1758G>C (n.44-1758G>C) | |
| 15 | g.96332318G= | CA2198009533 | NR2F2 | c.213G= (p.Gln71=) c.44-1758G= (n.44-1758G=) | |
| 15 | g.96332318G>T | CA393929840 | NR2F2 | c.213G>T (p.Gln71His) c.44-1758G>T (n.44-1758G>T) | gnomAD v4 |
| 15 | g.96332319C>A | CA393929841 | NR2F2 | c.214C>A (p.Gln72Lys) c.44-1757C>A (n.44-1757C>A) | gnomAD v4 |
| 15 | g.96332319C>G | CA393929842 | NR2F2 | c.214C>G (p.Gln72Glu) c.44-1757C>G (n.44-1757C>G) | |
| 15 | g.96332319C>T | CA393929843 | NR2F2 | c.214C>T (p.Gln72Ter) c.44-1757C>T (n.44-1757C>T) | gnomAD v4 |
| 15 | g.96332320A>C | CA393929844 | NR2F2 | c.215A>C (p.Gln72Pro) c.44-1756A>C (n.44-1756A>C) | |
| 15 | g.96332320A>G | CA393929845 | NR2F2 | c.215A>G (p.Gln72Arg) c.44-1756A>G (n.44-1756A>G) | |
| 15 | g.96332320A>T | CA393929846 | NR2F2 | c.215A>T (p.Gln72Leu) c.44-1756A>T (n.44-1756A>T) | |
| 15 | g.96332321G>A | CA492689181 | NR2F2 | c.216G>A (p.Gln72=) c.44-1755G>A (n.44-1755G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332321G>C | CA393929847 | NR2F2 | c.216G>C (p.Gln72His) c.44-1755G>C (n.44-1755G>C) | |
| 15 | g.96332321G= | CA2198009535 | NR2F2 | c.216G= (p.Gln72=) c.44-1755G= (n.44-1755G=) | |
| 15 | g.96332321G>T | CA393929848 | NR2F2 | c.216G>T (p.Gln72His) c.44-1755G>T (n.44-1755G>T) | gnomAD v4 |
| 15 | g.96332322C>A | CA393929850 | NR2F2 | c.217C>A (p.Gln73Lys) c.44-1754C>A (n.44-1754C>A) | gnomAD v4 |
| 15 | g.96332322C= | CA2198009541 | NR2F2 | c.217C= (p.Gln73=) c.44-1754C= (n.44-1754C=) | |
| 15 | g.96332322C>G | CA393929851 | NR2F2 | c.217C>G (p.Gln73Glu) c.44-1754C>G (n.44-1754C>G) | |
| 15 | g.96332322C>T | CA393929849 | NR2F2 | c.217C>T (p.Gln73Ter) c.44-1754C>T (n.44-1754C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.96332323A>C | CA393929853 | NR2F2 | c.218A>C (p.Gln73Pro) c.44-1753A>C (n.44-1753A>C) | |
| 15 | g.96332323A>G | CA393929854 | NR2F2 | c.218A>G (p.Gln73Arg) c.44-1753A>G (n.44-1753A>G) | |
| 15 | g.96332323A>T | CA393929852 | NR2F2 | c.218A>T (p.Gln73Leu) c.44-1753A>T (n.44-1753A>T) | |
| 15 | g.96332324G>A | CA492689183 | NR2F2 | c.219G>A (p.Gln73=) c.44-1752G>A (n.44-1752G>A) | gnomAD v4 |
| 15 | g.96332324G>C | CA393929855 | NR2F2 | c.219G>C (p.Gln73His) c.44-1752G>C (n.44-1752G>C) | |
| 15 | g.96332324G= | CA2198009548 | NR2F2 | c.219G= (p.Gln73=) c.44-1752G= (n.44-1752G=) | |
| 15 | g.96332324G>T | CA7750668 | NR2F2 | c.219G>T (p.Gln73His) c.44-1752G>T (n.44-1752G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.96332325C>A | CA393929858 | NR2F2 | c.220C>A (p.Gln74Lys) c.44-1751C>A (n.44-1751C>A) | gnomAD v4 |
| 15 | g.96332325C>G | CA393929856 | NR2F2 | c.220C>G (p.Gln74Glu) c.44-1751C>G (n.44-1751C>G) | |
| 15 | g.96332325C>T | CA393929857 | NR2F2 | c.220C>T (p.Gln74Ter) c.44-1751C>T (n.44-1751C>T) | |
| 15 | g.96332326A>C | CA393929859 | NR2F2 | c.221A>C (p.Gln74Pro) c.44-1750A>C (n.44-1750A>C) | |
| 15 | g.96332326A>G | CA393929861 | NR2F2 | c.221A>G (p.Gln74Arg) c.44-1750A>G (n.44-1750A>G) | |
| 15 | g.96332326A>T | CA393929860 | NR2F2 | c.221A>T (p.Gln74Leu) c.44-1750A>T (n.44-1750A>T) | |
| 15 | g.96332327G>A | CA7750670 | NR2F2 | c.222G>A (p.Gln74=) c.44-1749G>A (n.44-1749G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.96332327G>C | CA393929863 | NR2F2 | c.222G>C (p.Gln74His) c.44-1749G>C (n.44-1749G>C) | |
| 15 | g.96332327G= | CA2198009555 | NR2F2 | c.222G= (p.Gln74=) c.44-1749G= (n.44-1749G=) | |
| 15 | g.96332327G>T | CA393929862 | NR2F2 | c.222G>T (p.Gln74His) c.44-1749G>T (n.44-1749G>T) | gnomAD v4 |
| 15 | g.96332328C>A | CA393929866 | NR2F2 | c.223C>A (p.Gln75Lys) c.44-1748C>A (n.44-1748C>A) | |
| 15 | g.96332328C>G | CA393929865 | NR2F2 | c.223C>G (p.Gln75Glu) c.44-1748C>G (n.44-1748C>G) | |
| 15 | g.96332328C>T | CA393929864 | NR2F2 | c.223C>T (p.Gln75Ter) c.44-1748C>T (n.44-1748C>T) | |
| 15 | g.96332330_96332332dup | CA7750669 | NR2F2 | c.225_227dup (p.Gln75_His76insGln) c.44-1746_44-1744dup (n.44-1746_44-1744dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.96332329A= | CA2198009559 | NR2F2 | c.224A= (p.Gln75=) c.44-1747A= (n.44-1747A=) | |
| 15 | g.96332329A>C | CA393929867 | NR2F2 | c.224A>C (p.Gln75Pro) c.44-1747A>C (n.44-1747A>C) | dbSNP gnomAD v2 |
| 15 | g.96332329A>G | CA393929868 | NR2F2 | c.224A>G (p.Gln75Arg) c.44-1747A>G (n.44-1747A>G) | |
| 15 | g.96332329A>T | CA393929869 | NR2F2 | c.224A>T (p.Gln75Leu) c.44-1747A>T (n.44-1747A>T) | |
| 15 | g.96332330A>C | CA393929870 | NR2F2 | c.225A>C (p.Gln75His) c.44-1746A>C (n.44-1746A>C) | |
| 15 | g.96332330A>G | CA492689188 | NR2F2 | c.225A>G (p.Gln75=) c.44-1746A>G (n.44-1746A>G) | COSMIC |
| 15 | g.96332330A>T | CA393929871 | NR2F2 | c.225A>T (p.Gln75His) c.44-1746A>T (n.44-1746A>T) | |
| 15 | g.96332331C>A | CA393929872 | NR2F2 | c.226C>A (p.His76Asn) c.44-1745C>A (n.44-1745C>A) | |
| 15 | g.96332331C>G | CA393929873 | NR2F2 | c.226C>G (p.His76Asp) c.44-1745C>G (n.44-1745C>G) | |
| 15 | g.96332331C>T | CA393929874 | NR2F2 | c.226C>T (p.His76Tyr) c.44-1745C>T (n.44-1745C>T) | gnomAD v4 |
| 15 | g.96332332A>C | CA393929875 | NR2F2 | c.227A>C (p.His76Pro) c.44-1744A>C (n.44-1744A>C) | |
| 15 | g.96332332A>G | CA393929876 | NR2F2 | c.227A>G (p.His76Arg) c.44-1744A>G (n.44-1744A>G) | |
| 15 | g.96332332A>T | CA393929877 | NR2F2 | c.227A>T (p.His76Leu) c.44-1744A>T (n.44-1744A>T) | |
| 15 | g.96332333C>A | CA393929878 | NR2F2 | c.228C>A (p.His76Gln) c.44-1743C>A (n.44-1743C>A) | |
| 15 | g.96332333C= | CA2198009561 | NR2F2 | c.228C= (p.His76=) c.44-1743C= (n.44-1743C=) | |
| 15 | g.96332333C>G | CA393929879 | NR2F2 | c.228C>G (p.His76Gln) c.44-1743C>G (n.44-1743C>G) | |
| 15 | g.96332333C>T | CA492689192 | NR2F2 | c.228C>T (p.His76=) c.44-1743C>T (n.44-1743C>T) | dbSNP |
| 15 | g.96332334_96332336del | CA2630531617 | NR2F2 | c.229_231del (p.Ile77del) c.44-1742_44-1740del (n.44-1742_44-1740del) | gnomAD v4 |
| 15 | g.96332334A>C | CA393929880 | NR2F2 | c.229A>C (p.Ile77Leu) c.44-1742A>C (n.44-1742A>C) | |
| 15 | g.96332334A>G | CA393929881 | NR2F2 | c.229A>G (p.Ile77Val) c.44-1742A>G (n.44-1742A>G) | |
| 15 | g.96332334A>T | CA393929882 | NR2F2 | c.229A>T (p.Ile77Phe) c.44-1742A>T (n.44-1742A>T) | |
| 15 | g.96332335T>A | CA393929883 | NR2F2 | c.230T>A (p.Ile77Asn) c.44-1741T>A (n.44-1741T>A) | |
| 15 | g.96332335T>C | CA393929884 | NR2F2 | c.230T>C (p.Ile77Thr) c.44-1741T>C (n.44-1741T>C) | |
| 15 | g.96332335T>G | CA393929885 | NR2F2 | c.230T>G (p.Ile77Ser) c.44-1741T>G (n.44-1741T>G) | COSMIC |
| 15 | g.96332336C>A | CA7750672 | NR2F2 | c.231C>A (p.Ile77=) c.44-1740C>A (n.44-1740C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.96332336C= | CA2198009567 | NR2F2 | c.231C= (p.Ile77=) c.44-1740C= (n.44-1740C=) | |
| 15 | g.96332336C>G | CA7750671 | NR2F2 | c.231C>G (p.Ile77Met) c.44-1740C>G (n.44-1740C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.96332336C>T | CA492689193 | NR2F2 | c.231C>T (p.Ile77=) c.44-1740C>T (n.44-1740C>T) | gnomAD v4 |
| 15 | g.96332337G>A | CA393929886 | NR2F2 | c.232G>A (p.Glu78Lys) c.44-1739G>A (n.44-1739G>A) | gnomAD v4 |
| 15 | g.96332337G>C | CA393929887 | NR2F2 | c.232G>C (p.Glu78Gln) c.44-1739G>C (n.44-1739G>C) | gnomAD v4 |
| 15 | g.96332337G>T | CA393929888 | NR2F2 | c.232G>T (p.Glu78Ter) c.44-1739G>T (n.44-1739G>T) | |
| 15 | g.96332338A>C | CA393929889 | NR2F2 | c.233A>C (p.Glu78Ala) c.44-1738A>C (n.44-1738A>C) | |
| 15 | g.96332338A>G | CA393929890 | NR2F2 | c.233A>G (p.Glu78Gly) c.44-1738A>G (n.44-1738A>G) | |
| 15 | g.96332338A>T | CA393929891 | NR2F2 | c.233A>T (p.Glu78Val) c.44-1738A>T (n.44-1738A>T) | |
| 15 | g.96332339G>A | CA492689197 | NR2F2 | c.234G>A (p.Glu78=) c.44-1737G>A (n.44-1737G>A) | |
| 15 | g.96332339G>C | CA7750673 | NR2F2 | c.234G>C (p.Glu78Asp) c.44-1737G>C (n.44-1737G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.96332339G= | CA2198009572 | NR2F2 | c.234G= (p.Glu78=) c.44-1737G= (n.44-1737G=) | |
| 15 | g.96332339G>T | CA393929892 | NR2F2 | c.234G>T (p.Glu78Asp) c.44-1737G>T (n.44-1737G>T) | |
| 15 | g.96332340T>A | CA393929893 | NR2F2 | c.235T>A (p.Cys79Ser) c.44-1736T>A (n.44-1736T>A) | |
| 15 | g.96332340T>C | CA393929894 | NR2F2 | c.235T>C (p.Cys79Arg) c.44-1736T>C (n.44-1736T>C) | |
| 15 | g.96332340T>G | CA393929895 | NR2F2 | c.235T>G (p.Cys79Gly) c.44-1736T>G (n.44-1736T>G) | |
| 15 | g.96332341G>A | CA393929896 | NR2F2 | c.236G>A (p.Cys79Tyr) c.44-1735G>A (n.44-1735G>A) | |
| 15 | g.96332341G>C | CA393929897 | NR2F2 | c.236G>C (p.Cys79Ser) c.44-1735G>C (n.44-1735G>C) | |
| 15 | g.96332341G>T | CA393929898 | NR2F2 | c.236G>T (p.Cys79Phe) c.44-1735G>T (n.44-1735G>T) | gnomAD v4 |
| 15 | g.96332342C>A | CA393929899 | NR2F2 | c.237C>A (p.Cys79Ter) c.44-1734C>A (n.44-1734C>A) | gnomAD v4 |
| 15 | g.96332342C= | CA2198009573 | NR2F2 | c.237C= (p.Cys79=) c.44-1734C= (n.44-1734C=) | |
| 15 | g.96332342C>G | CA393929900 | NR2F2 | c.237C>G (p.Cys79Trp) c.44-1734C>G (n.44-1734C>G) | COSMIC |
| 15 | g.96332342C>T | CA7750674 | NR2F2 | c.237C>T (p.Cys79=) c.44-1734C>T (n.44-1734C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.96332343G>A | CA393929901 | NR2F2 | c.238G>A (p.Val80Met) c.44-1733G>A (n.44-1733G>A) | gnomAD v4 |
| 15 | g.96332343G>C | CA393929902 | NR2F2 | c.238G>C (p.Val80Leu) c.44-1733G>C (n.44-1733G>C) | |
| 15 | g.96332343G>T | CA393929903 | NR2F2 | c.238G>T (p.Val80Leu) c.44-1733G>T (n.44-1733G>T) | |
| 15 | g.96332344T>A | CA393929906 | NR2F2 | c.239T>A (p.Val80Glu) c.44-1732T>A (n.44-1732T>A) | |
| 15 | g.96332344T>C | CA393929905 | NR2F2 | c.239T>C (p.Val80Ala) c.44-1732T>C (n.44-1732T>C) | gnomAD v4 |
| 15 | g.96332344T>G | CA393929904 | NR2F2 | c.239T>G (p.Val80Gly) c.44-1732T>G (n.44-1732T>G) | |
| 15 | g.96332345G>A | CA492689199 | NR2F2 | c.240G>A (p.Val80=) c.44-1731G>A (n.44-1731G>A) | |
| 15 | g.96332345G>C | CA492689200 | NR2F2 | c.240G>C (p.Val80=) c.44-1731G>C (n.44-1731G>C) | dbSNP |
| 15 | g.96332345G= | CA2198009577 | NR2F2 | c.240G= (p.Val80=) c.44-1731G= (n.44-1731G=) | |
| 15 | g.96332345G>T | CA492689201 | NR2F2 | c.240G>T (p.Val80=) c.44-1731G>T (n.44-1731G>T) | |
| 15 | g.96332346G>A | CA393929907 | NR2F2 | c.241G>A (p.Val81Met) c.44-1730G>A (n.44-1730G>A) | |
| 15 | g.96332346G>C | CA393929909 | NR2F2 | c.241G>C (p.Val81Leu) c.44-1730G>C (n.44-1730G>C) | |
| 15 | g.96332346G>T | CA393929908 | NR2F2 | c.241G>T (p.Val81Leu) c.44-1730G>T (n.44-1730G>T) | |
| 15 | g.96332347T>A | CA393929910 | NR2F2 | c.242T>A (p.Val81Glu) c.44-1729T>A (n.44-1729T>A) | |
| 15 | g.96332347T>C | CA393929912 | NR2F2 | c.242T>C (p.Val81Ala) c.44-1729T>C (n.44-1729T>C) | |
| 15 | g.96332347T>G | CA393929911 | NR2F2 | c.242T>G (p.Val81Gly) c.44-1729T>G (n.44-1729T>G) | |
| 15 | g.96332348G>A | CA492689205 | NR2F2 | c.243G>A (p.Val81=) c.44-1728G>A (n.44-1728G>A) | |
| 15 | g.96332348G>C | CA492689207 | NR2F2 | c.243G>C (p.Val81=) c.44-1728G>C (n.44-1728G>C) | |
| 15 | g.96332348G>T | CA492689206 | NR2F2 | c.243G>T (p.Val81=) c.44-1728G>T (n.44-1728G>T) | COSMIC |
| 15 | g.96332349T>A | CA393929913 | NR2F2 | c.244T>A (p.Cys82Ser) c.44-1727T>A (n.44-1727T>A) | |
| 15 | g.96332349T>C | CA393929915 | NR2F2 | c.244T>C (p.Cys82Arg) c.44-1727T>C (n.44-1727T>C) | |
| 15 | g.96332349T>G | CA393929914 | NR2F2 | c.244T>G (p.Cys82Gly) c.44-1727T>G (n.44-1727T>G) | |
| 15 | g.96332350G>A | CA393929916 | NR2F2 | c.245G>A (p.Cys82Tyr) c.44-1726G>A (n.44-1726G>A) | |
| 15 | g.96332350G>C | CA393929917 | NR2F2 | c.245G>C (p.Cys82Ser) c.44-1726G>C (n.44-1726G>C) | |
| 15 | g.96332350G>T | CA393929918 | NR2F2 | c.245G>T (p.Cys82Phe) c.44-1726G>T (n.44-1726G>T) | |
| 15 | g.96332351C>A | CA393929919 | NR2F2 | c.246C>A (p.Cys82Ter) c.44-1725C>A (n.44-1725C>A) | |
| 15 | g.96332351C= | CA2198009579 | NR2F2 | c.246C= (p.Cys82=) c.44-1725C= (n.44-1725C=) | |
| 15 | g.96332351C>G | CA393929920 | NR2F2 | c.246C>G (p.Cys82Trp) c.44-1725C>G (n.44-1725C>G) | |
| 15 | g.96332351C>T | CA276170326 | NR2F2 | c.246C>T (p.Cys82=) c.44-1725C>T (n.44-1725C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.96332352G>A | CA393929921 | NR2F2 | c.247G>A (p.Gly83Arg) c.44-1724G>A (n.44-1724G>A) | dbSNP gnomAD v4 |
| 15 | g.96332352G>C | CA393929922 | NR2F2 | c.247G>C (p.Gly83Arg) c.44-1724G>C (n.44-1724G>C) | |
| 15 | g.96332352G= | CA2198009584 | NR2F2 | c.247G= (p.Gly83=) c.44-1724G= (n.44-1724G=) | |
| 15 | g.96332352G>T | CA393929923 | NR2F2 | c.247G>T (p.Gly83Ter) c.44-1724G>T (n.44-1724G>T) | ClinVar dbSNP |
| 15 | g.96332353G>A | CA393929924 | NR2F2 | c.248G>A (p.Gly83Glu) c.44-1723G>A (n.44-1723G>A) | |
| 15 | g.96332353G>C | CA393929925 | NR2F2 | c.248G>C (p.Gly83Ala) c.44-1723G>C (n.44-1723G>C) | |
| 15 | g.96332353G>T | CA393929926 | NR2F2 | c.248G>T (p.Gly83Val) c.44-1723G>T (n.44-1723G>T) | |
| 15 | g.96332354A= | CA2198009586 | NR2F2 | c.249A= (p.Gly83=) c.44-1722A= (n.44-1722A=) | |
| 15 | g.96332354A>C | CA492689214 | NR2F2 | c.249A>C (p.Gly83=) c.44-1722A>C (n.44-1722A>C) | |
| 15 | g.96332354A>G | CA7750675 | NR2F2 | c.249A>G (p.Gly83=) c.44-1722A>G (n.44-1722A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.96332354A>T | CA492689215 | NR2F2 | c.249A>T (p.Gly83=) c.44-1722A>T (n.44-1722A>T) | |
| 15 | g.96332355G>A | CA393929927 | NR2F2 | c.250G>A (p.Asp84Asn) c.44-1721G>A (n.44-1721G>A) | |
| 15 | g.96332355G>C | CA393929928 | NR2F2 | c.250G>C (p.Asp84His) c.44-1721G>C (n.44-1721G>C) | |
| 15 | g.96332355G>T | CA393929929 | NR2F2 | c.250G>T (p.Asp84Tyr) c.44-1721G>T (n.44-1721G>T) | |
| 15 | g.96332356A>C | CA393929930 | NR2F2 | c.251A>C (p.Asp84Ala) c.44-1720A>C (n.44-1720A>C) | |
| 15 | g.96332356A>G | CA393929931 | NR2F2 | c.251A>G (p.Asp84Gly) c.44-1720A>G (n.44-1720A>G) | |
| 15 | g.96332356A>T | CA393929932 | NR2F2 | c.251A>T (p.Asp84Val) c.44-1720A>T (n.44-1720A>T) | |
| 15 | g.96332357C>A | CA393929933 | NR2F2 | c.252C>A (p.Asp84Glu) c.44-1719C>A (n.44-1719C>A) | |
| 15 | g.96332357C>G | CA393929934 | NR2F2 | c.252C>G (p.Asp84Glu) c.44-1719C>G (n.44-1719C>G) | |
| 15 | g.96332357C>T | CA492689219 | NR2F2 | c.252C>T (p.Asp84=) c.44-1719C>T (n.44-1719C>T) | |
| 15 | g.96332358A= | CA2198009589 | NR2F2 | c.253A= (p.Lys85=) c.44-1718A= (n.44-1718A=) | |
| 15 | g.96332358A>C | CA393929935 | NR2F2 | c.253A>C (p.Lys85Gln) c.44-1718A>C (n.44-1718A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.96332358A>G | CA393929936 | NR2F2 | c.253A>G (p.Lys85Glu) c.44-1718A>G (n.44-1718A>G) | |
| 15 | g.96332358A>T | CA393929937 | NR2F2 | c.253A>T (p.Lys85Ter) c.44-1718A>T (n.44-1718A>T) | gnomAD v4 |
| 15 | g.96332359dup | CA492689222 | NR2F2 | c.254dup (p.Ser86ValfsTer?) c.44-1717dup (n.44-1717dup) | COSMIC |