| 1 | g.109264283G>A | CA341501771 | CELSR2 | c.5207G>A (p.Gly1736Asp)
| gnomAD v4 |
| 1 | g.109264283G>C | CA341501770 | CELSR2 | c.5207G>C (p.Gly1736Ala)
| |
| 1 | g.109264283G>T | CA341501769 | CELSR2 | c.5207G>T (p.Gly1736Val)
| gnomAD v4 |
| 1 | g.109264284T>A | CA419678413 | CELSR2 | c.5208T>A (p.Gly1736=)
| |
| 1 | g.109264284T>C | CA419678414 | CELSR2 | c.5208T>C (p.Gly1736=)
| dbSNP |
| 1 | g.109264284T>G | CA419678417 | CELSR2 | c.5208T>G (p.Gly1736=)
| |
| 1 | g.109264284T= | CA1188035003 | CELSR2 | c.5208T= (p.Gly1736=)
| |
| 1 | g.109264285C>A | CA341501772 | CELSR2 | c.5209C>A (p.Leu1737Met)
| |
| 1 | g.109264285C= | CA1188035004 | CELSR2 | c.5209C= (p.Leu1737=)
| |
| 1 | g.109264285C>G | CA341501773 | CELSR2 | c.5209C>G (p.Leu1737Val)
| COSMIC |
| 1 | g.109264285C>T | CA987458 | CELSR2 | c.5209C>T (p.Leu1737=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264286T>A | CA341501774 | CELSR2 | c.5210T>A (p.Leu1737Gln)
| |
| 1 | g.109264286T>C | CA341501775 | CELSR2 | c.5210T>C (p.Leu1737Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264286T>G | CA341501776 | CELSR2 | c.5210T>G (p.Leu1737Arg)
| |
| 1 | g.109264286T= | CA1188035005 | CELSR2 | c.5210T= (p.Leu1737=)
| |
| 1 | g.109264287G>A | CA419678423 | CELSR2 | c.5211G>A (p.Leu1737=)
| COSMIC |
| 1 | g.109264287G>C | CA419678424 | CELSR2 | c.5211G>C (p.Leu1737=)
| |
| 1 | g.109264287G>T | CA419678429 | CELSR2 | c.5211G>T (p.Leu1737=)
| |
| 1 | g.109264288C>A | CA341501777 | CELSR2 | c.5212C>A (p.His1738Asn)
| |
| 1 | g.109264288C= | CA1188035006 | CELSR2 | c.5212C= (p.His1738=)
| |
| 1 | g.109264288C>G | CA341501778 | CELSR2 | c.5212C>G (p.His1738Asp)
| |
| 1 | g.109264288C>T | CA987459 | CELSR2 | c.5212C>T (p.His1738Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264289A>C | CA341501779 | CELSR2 | c.5213A>C (p.His1738Pro)
| |
| 1 | g.109264289A>G | CA341501780 | CELSR2 | c.5213A>G (p.His1738Arg)
| |
| 1 | g.109264289A>T | CA341501781 | CELSR2 | c.5213A>T (p.His1738Leu)
| gnomAD v4 |
| 1 | g.109264290C>A | CA341501782 | CELSR2 | c.5214C>A (p.His1738Gln)
| |
| 1 | g.109264290C= | CA1188035007 | CELSR2 | c.5214C= (p.His1738=)
| |
| 1 | g.109264290C>G | CA28632485 | CELSR2 | c.5214C>G (p.His1738Gln)
| dbSNP |
| 1 | g.109264290C>T | CA419678436 | CELSR2 | c.5214C>T (p.His1738=)
| dbSNP gnomAD v2 |
| 1 | g.109264291C>A | CA341501783 | CELSR2 | c.5215C>A (p.Leu1739Met)
| |
| 1 | g.109264291C= | CA1188035008 | CELSR2 | c.5215C= (p.Leu1739=)
| |
| 1 | g.109264291C>G | CA987460 | CELSR2 | c.5215C>G (p.Leu1739Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264291C>T | CA419678438 | CELSR2 | c.5215C>T (p.Leu1739=)
| |
| 1 | g.109264292T>A | CA341501784 | CELSR2 | c.5216T>A (p.Leu1739Gln)
| |
| 1 | g.109264292T>C | CA341501785 | CELSR2 | c.5216T>C (p.Leu1739Pro)
| |
| 1 | g.109264292T>G | CA341501786 | CELSR2 | c.5216T>G (p.Leu1739Arg)
| |
| 1 | g.109264293G>A | CA419678439 | CELSR2 | c.5217G>A (p.Leu1739=)
| |
| 1 | g.109264293G>C | CA419678440 | CELSR2 | c.5217G>C (p.Leu1739=)
| |
| 1 | g.109264293G>T | CA419678441 | CELSR2 | c.5217G>T (p.Leu1739=)
| |
| 1 | g.109264294A>C | CA341501787 | CELSR2 | c.5218A>C (p.Ser1740Arg)
| |
| 1 | g.109264294A>G | CA341501788 | CELSR2 | c.5218A>G (p.Ser1740Gly)
| |
| 1 | g.109264294A>T | CA341501789 | CELSR2 | c.5218A>T (p.Ser1740Cys)
| |
| 1 | g.109264295G>A | CA341501791 | CELSR2 | c.5219G>A (p.Ser1740Asn)
| |
| 1 | g.109264295G>C | CA987461 | CELSR2 | c.5219G>C (p.Ser1740Thr)
| dbSNP ExAC gnomAD v2 |
| 1 | g.109264295G= | CA1188035009 | CELSR2 | c.5219G= (p.Ser1740=)
| |
| 1 | g.109264295G>T | CA341501790 | CELSR2 | c.5219G>T (p.Ser1740Ile)
| |
| 1 | g.109264296C>A | CA341501792 | CELSR2 | c.5220C>A (p.Ser1740Arg)
| |
| 1 | g.109264296C>G | CA341501793 | CELSR2 | c.5220C>G (p.Ser1740Arg)
| |
| 1 | g.109264296C>T | CA419678442 | CELSR2 | c.5220C>T (p.Ser1740=)
| |
| 1 | g.109264297A>C | CA341501794 | CELSR2 | c.5221A>C (p.Asn1741His)
| |
| 1 | g.109264297A>G | CA341501795 | CELSR2 | c.5221A>G (p.Asn1741Asp)
| |
| 1 | g.109264297A>T | CA341501796 | CELSR2 | c.5221A>T (p.Asn1741Tyr)
| |
| 1 | g.109264298A= | CA1188035010 | CELSR2 | c.5222A= (p.Asn1741=)
| |
| 1 | g.109264298A>C | CA341501797 | CELSR2 | c.5222A>C (p.Asn1741Thr)
| |
| 1 | g.109264298A>G | CA341501799 | CELSR2 | c.5222A>G (p.Asn1741Ser)
| dbSNP |
| 1 | g.109264298A>T | CA341501798 | CELSR2 | c.5222A>T (p.Asn1741Ile)
| |
| 1 | g.109264299C>A | CA341501800 | CELSR2 | c.5223C>A (p.Asn1741Lys)
| |
| 1 | g.109264299C= | CA1143440597 | CELSR2 | c.5223C= (p.Asn1741=)
| |
| 1 | g.109264299C>G | CA341501801 | CELSR2 | c.5223C>G (p.Asn1741Lys)
| |
| 1 | g.109264299C>T | CA987462 | CELSR2 | c.5223C>T (p.Asn1741=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264300A= | CA1143617186 | CELSR2 | c.5224A= (p.Ile1742=)
| |
| 1 | g.109264300A>C | CA341501802 | CELSR2 | c.5224A>C (p.Ile1742Leu)
| |
| 1 | g.109264300A>G | CA987463 | CELSR2 | c.5224A>G (p.Ile1742Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264300A>T | CA28632510 | CELSR2 | c.5224A>T (p.Ile1742Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264301T>A | CA341501803 | CELSR2 | c.5225T>A (p.Ile1742Lys)
| |
| 1 | g.109264301T>C | CA341501804 | CELSR2 | c.5225T>C (p.Ile1742Thr)
| |
| 1 | g.109264301T>G | CA341501805 | CELSR2 | c.5225T>G (p.Ile1742Arg)
| |
| 1 | g.109264302A>C | CA419678449 | CELSR2 | c.5226A>C (p.Ile1742=)
| |
| 1 | g.109264302A>G | CA341501806 | CELSR2 | c.5226A>G (p.Ile1742Met)
| |
| 1 | g.109264302A>T | CA419678451 | CELSR2 | c.5226A>T (p.Ile1742=)
| |
| 1 | g.109264303A>C | CA341501809 | CELSR2 | c.5227A>C (p.Thr1743Pro)
| |
| 1 | g.109264303A>G | CA341501808 | CELSR2 | c.5227A>G (p.Thr1743Ala)
| |
| 1 | g.109264303A>T | CA341501807 | CELSR2 | c.5227A>T (p.Thr1743Ser)
| |
| 1 | g.109264304C>A | CA341501810 | CELSR2 | c.5228C>A (p.Thr1743Lys)
| |
| 1 | g.109264304C= | CA1188035011 | CELSR2 | c.5228C= (p.Thr1743=)
| |
| 1 | g.109264304C>G | CA341501811 | CELSR2 | c.5228C>G (p.Thr1743Arg)
| dbSNP gnomAD v4 |
| 1 | g.109264304C>T | CA341501812 | CELSR2 | c.5228C>T (p.Thr1743Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264305A= | CA1188035012 | CELSR2 | c.5229A= (p.Thr1743=)
| |
| 1 | g.109264305A>C | CA419678457 | CELSR2 | c.5229A>C (p.Thr1743=)
| |
| 1 | g.109264305A>G | CA419678458 | CELSR2 | c.5229A>G (p.Thr1743=)
| dbSNP |
| 1 | g.109264305A>T | CA419678459 | CELSR2 | c.5229A>T (p.Thr1743=)
| |
| 1 | g.109264306G>A | CA987464 | CELSR2 | c.5230G>A (p.Val1744Met)
| dbSNP ExAC gnomAD v2 |
| 1 | g.109264306G>C | CA341501813 | CELSR2 | c.5230G>C (p.Val1744Leu)
| |
| 1 | g.109264306G= | CA1188035013 | CELSR2 | c.5230G= (p.Val1744=)
| |
| 1 | g.109264306G>T | CA341501814 | CELSR2 | c.5230G>T (p.Val1744Leu)
| |
| 1 | g.109264307T>A | CA341501815 | CELSR2 | c.5231T>A (p.Val1744Glu)
| |
| 1 | g.109264307T>C | CA341501816 | CELSR2 | c.5231T>C (p.Val1744Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264307T>G | CA341501817 | CELSR2 | c.5231T>G (p.Val1744Gly)
| |
| 1 | g.109264307T= | CA1188035014 | CELSR2 | c.5231T= (p.Val1744=)
| |
| 1 | g.109264308G>A | CA419678467 | CELSR2 | c.5232G>A (p.Val1744=)
| |
| 1 | g.109264308G>C | CA419678468 | CELSR2 | c.5232G>C (p.Val1744=)
| |
| 1 | g.109264308G>T | CA419678469 | CELSR2 | c.5232G>T (p.Val1744=)
| |
| 1 | g.109264309G>A | CA341501818 | CELSR2 | c.5233G>A (p.Gly1745Ser)
| |
| 1 | g.109264309G>C | CA341501819 | CELSR2 | c.5233G>C (p.Gly1745Arg)
| |
| 1 | g.109264309G>T | CA341501820 | CELSR2 | c.5233G>T (p.Gly1745Cys)
| |
| 1 | g.109264314_109264334del | CA2646916076 | CELSR2 | c.5238_5258del (p.Ile1747_Gly1753del)
| gnomAD v4 |
| 1 | g.109264310G>A | CA341501822 | CELSR2 | c.5234G>A (p.Gly1745Asp)
| |
| 1 | g.109264310G>C | CA341501823 | CELSR2 | c.5234G>C (p.Gly1745Ala)
| |
| 1 | g.109264310G>T | CA341501821 | CELSR2 | c.5234G>T (p.Gly1745Val)
| |
| 1 | g.109264311C>A | CA987466 | CELSR2 | c.5235C>A (p.Gly1745=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264311C= | CA1141346396 | CELSR2 | c.5235C= (p.Gly1745=)
| |
| 1 | g.109264311C>G | CA419678475 | CELSR2 | c.5235C>G (p.Gly1745=)
| |
| 1 | g.109264311C>T | CA987465 | CELSR2 | c.5235C>T (p.Gly1745=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264312G>A | CA987467 | CELSR2 | c.5236G>A (p.Gly1746Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264312G>C | CA341501824 | CELSR2 | c.5236G>C (p.Gly1746Arg)
| dbSNP |
| 1 | g.109264312G= | CA1143999614 | CELSR2 | c.5236G= (p.Gly1746=)
| |
| 1 | g.109264312G>T | CA341501825 | CELSR2 | c.5236G>T (p.Gly1746Ter)
| |
| 1 | g.109264313G>A | CA341501828 | CELSR2 | c.5237G>A (p.Gly1746Glu)
| |
| 1 | g.109264313G>C | CA341501826 | CELSR2 | c.5237G>C (p.Gly1746Ala)
| |
| 1 | g.109264313G>T | CA341501827 | CELSR2 | c.5237G>T (p.Gly1746Val)
| |
| 1 | g.109264314A>C | CA419678482 | CELSR2 | c.5238A>C (p.Gly1746=)
| |
| 1 | g.109264314A>G | CA419678483 | CELSR2 | c.5238A>G (p.Gly1746=)
| |
| 1 | g.109264314A>T | CA419678484 | CELSR2 | c.5238A>T (p.Gly1746=)
| |
| 1 | g.109264315A>C | CA341501829 | CELSR2 | c.5239A>C (p.Ile1747Leu)
| |
| 1 | g.109264315A>G | CA341501830 | CELSR2 | c.5239A>G (p.Ile1747Val)
| COSMIC |
| 1 | g.109264315A>T | CA341501831 | CELSR2 | c.5239A>T (p.Ile1747Leu)
| |
| 1 | g.109264316T>A | CA341501832 | CELSR2 | c.5240T>A (p.Ile1747Lys)
| |
| 1 | g.109264316T>C | CA341501833 | CELSR2 | c.5240T>C (p.Ile1747Thr)
| gnomAD v4 |
| 1 | g.109264316T>G | CA341501834 | CELSR2 | c.5240T>G (p.Ile1747Arg)
| |
| 1 | g.109264317A= | CA1188035015 | CELSR2 | c.5241A= (p.Ile1747=)
| |
| 1 | g.109264317A>C | CA419678489 | CELSR2 | c.5241A>C (p.Ile1747=)
| dbSNP |
| 1 | g.109264317A>G | CA341501835 | CELSR2 | c.5241A>G (p.Ile1747Met)
| |
| 1 | g.109264317A>T | CA419678490 | CELSR2 | c.5241A>T (p.Ile1747=)
| |
| 1 | g.109264318C>A | CA341501836 | CELSR2 | c.5242C>A (p.Pro1748Thr)
| |
| 1 | g.109264318C= | CA1188035016 | CELSR2 | c.5242C= (p.Pro1748=)
| |
| 1 | g.109264318C>G | CA987468 | CELSR2 | c.5242C>G (p.Pro1748Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264318C>T | CA341501837 | CELSR2 | c.5242C>T (p.Pro1748Ser)
| dbSNP COSMIC |
| 1 | g.109264319C>A | CA341501838 | CELSR2 | c.5243C>A (p.Pro1748His)
| |
| 1 | g.109264319C>G | CA341501840 | CELSR2 | c.5243C>G (p.Pro1748Arg)
| |
| 1 | g.109264319C>T | CA341501839 | CELSR2 | c.5243C>T (p.Pro1748Leu)
| |
| 1 | g.109264320T>A | CA419678498 | CELSR2 | c.5244T>A (p.Pro1748=)
| |
| 1 | g.109264320T>C | CA419678499 | CELSR2 | c.5244T>C (p.Pro1748=)
| dbSNP gnomAD v4 |
| 1 | g.109264320T>G | CA28632545 | CELSR2 | c.5244T>G (p.Pro1748=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264320T= | CA1144013415 | CELSR2 | c.5244T= (p.Pro1748=)
| |
| 1 | g.109264321G>A | CA341501842 | CELSR2 | c.5245G>A (p.Gly1749Arg)
| dbSNP gnomAD v4 |
| 1 | g.109264321G>C | CA341501841 | CELSR2 | c.5245G>C (p.Gly1749Arg)
| |
| 1 | g.109264321G= | CA1188035017 | CELSR2 | c.5245G= (p.Gly1749=)
| |
| 1 | g.109264321G>T | CA341501843 | CELSR2 | c.5245G>T (p.Gly1749Trp)
| |
| 1 | g.109264322G>A | CA341501844 | CELSR2 | c.5246G>A (p.Gly1749Glu)
| dbSNP |
| 1 | g.109264322G>C | CA341501846 | CELSR2 | c.5246G>C (p.Gly1749Ala)
| |
| 1 | g.109264322G= | CA1188035018 | CELSR2 | c.5246G= (p.Gly1749=)
| |
| 1 | g.109264322G>T | CA341501845 | CELSR2 | c.5246G>T (p.Gly1749Val)
| |
| 1 | g.109264323G>A | CA987469 | CELSR2 | c.5247G>A (p.Gly1749=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264323G>C | CA419678508 | CELSR2 | c.5247G>C (p.Gly1749=)
| |
| 1 | g.109264323G= | CA1188035019 | CELSR2 | c.5247G= (p.Gly1749=)
| |
| 1 | g.109264323G>T | CA419678509 | CELSR2 | c.5247G>T (p.Gly1749=)
| gnomAD v4 |
| 1 | g.109264324C>A | CA341501847 | CELSR2 | c.5248C>A (p.Pro1750Thr)
| |
| 1 | g.109264324C= | CA1143373439 | CELSR2 | c.5248C= (p.Pro1750=)
| |
| 1 | g.109264324C>G | CA341501848 | CELSR2 | c.5248C>G (p.Pro1750Ala)
| |
| 1 | g.109264324C>T | CA987470 | CELSR2 | c.5248C>T (p.Pro1750Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264325C>A | CA341501849 | CELSR2 | c.5249C>A (p.Pro1750Gln)
| |
| 1 | g.109264325C>G | CA341501850 | CELSR2 | c.5249C>G (p.Pro1750Arg)
| |
| 1 | g.109264325C>T | CA341501851 | CELSR2 | c.5249C>T (p.Pro1750Leu)
| |
| 1 | g.109264326A>C | CA419678512 | CELSR2 | c.5250A>C (p.Pro1750=)
| |
| 1 | g.109264326A>G | CA419678513 | CELSR2 | c.5250A>G (p.Pro1750=)
| |
| 1 | g.109264326A>T | CA419678514 | CELSR2 | c.5250A>T (p.Pro1750=)
| |
| 1 | g.109264327G>A | CA341501852 | CELSR2 | c.5251G>A (p.Ala1751Thr)
| gnomAD v4 |
| 1 | g.109264327G>C | CA341501853 | CELSR2 | c.5251G>C (p.Ala1751Pro)
| |
| 1 | g.109264327G>T | CA341501854 | CELSR2 | c.5251G>T (p.Ala1751Ser)
| |
| 1 | g.109264328C>A | CA341501856 | CELSR2 | c.5252C>A (p.Ala1751Asp)
| |
| 1 | g.109264328C= | CA1142196494 | CELSR2 | c.5252C= (p.Ala1751=)
| |
| 1 | g.109264328C>G | CA341501855 | CELSR2 | c.5252C>G (p.Ala1751Gly)
| |
| 1 | g.109264328C>T | CA987471 | CELSR2 | c.5252C>T (p.Ala1751Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264329C>A | CA419678522 | CELSR2 | c.5253C>A (p.Ala1751=)
| COSMIC |
| 1 | g.109264329C= | CA1146563353 | CELSR2 | c.5253C= (p.Ala1751=)
| |
| 1 | g.109264329C>G | CA419678523 | CELSR2 | c.5253C>G (p.Ala1751=)
| |
| 1 | g.109264329C>T | CA987472 | CELSR2 | c.5253C>T (p.Ala1751=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264330G>A | CA341501857 | CELSR2 | c.5254G>A (p.Gly1752Ser)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.109264330G>C | CA28632586 | CELSR2 | c.5254G>C (p.Gly1752Arg)
| dbSNP |
| 1 | g.109264330G= | CA1188035020 | CELSR2 | c.5254G= (p.Gly1752=)
| |
| 1 | g.109264330G>T | CA341501858 | CELSR2 | c.5254G>T (p.Gly1752Cys)
| |
| 1 | g.109264331G>A | CA341501859 | CELSR2 | c.5255G>A (p.Gly1752Asp)
| |
| 1 | g.109264331G>C | CA341501860 | CELSR2 | c.5255G>C (p.Gly1752Ala)
| |
| 1 | g.109264331G>T | CA341501861 | CELSR2 | c.5255G>T (p.Gly1752Val)
| gnomAD v4 |
| 1 | g.109264332C>A | CA419678536 | CELSR2 | c.5256C>A (p.Gly1752=)
| |
| 1 | g.109264332C= | CA1188035021 | CELSR2 | c.5256C= (p.Gly1752=)
| |
| 1 | g.109264332C>G | CA419678539 | CELSR2 | c.5256C>G (p.Gly1752=)
| |
| 1 | g.109264332C>T | CA987473 | CELSR2 | c.5256C>T (p.Gly1752=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.109264332delinsGCCG | CA2739292015 | CELSR2 | c.5256delinsGCCG (p.Gly1752_Gly1753insPro)
| |
| 1 | g.109264333G>A | CA341501862 | CELSR2 | c.5257G>A (p.Gly1753Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264333G>C | CA341501863 | CELSR2 | c.5257G>C (p.Gly1753Arg)
| |
| 1 | g.109264333G= | CA1141923422 | CELSR2 | c.5257G= (p.Gly1753=)
| |
| 1 | g.109264333G>T | CA987474 | CELSR2 | c.5257G>T (p.Gly1753Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264334G>A | CA341501865 | CELSR2 | c.5258G>A (p.Gly1753Asp)
| |
| 1 | g.109264334G>C | CA341501866 | CELSR2 | c.5258G>C (p.Gly1753Ala)
| |
| 1 | g.109264334G= | CA1188035022 | CELSR2 | c.5258G= (p.Gly1753=)
| |
| 1 | g.109264334G>T | CA341501864 | CELSR2 | c.5258G>T (p.Gly1753Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264335T>A | CA419678542 | CELSR2 | c.5259T>A (p.Gly1753=)
| |
| 1 | g.109264335T>C | CA419678544 | CELSR2 | c.5259T>C (p.Gly1753=)
| |
| 1 | g.109264335T>G | CA419678546 | CELSR2 | c.5259T>G (p.Gly1753=)
| |
| 1 | g.109264336G>A | CA341501867 | CELSR2 | c.5260G>A (p.Val1754Met)
| gnomAD v4 |
| 1 | g.109264336G>C | CA341501868 | CELSR2 | c.5260G>C (p.Val1754Leu)
| |
| 1 | g.109264336G>T | CA341501869 | CELSR2 | c.5260G>T (p.Val1754Leu)
| |
| 1 | g.109264337T>A | CA341501870 | CELSR2 | c.5261T>A (p.Val1754Glu)
| |
| 1 | g.109264337T>C | CA341501871 | CELSR2 | c.5261T>C (p.Val1754Ala)
| dbSNP gnomAD v4 |
| 1 | g.109264337T>G | CA341501872 | CELSR2 | c.5261T>G (p.Val1754Gly)
| |
| 1 | g.109264337T= | CA1188035023 | CELSR2 | c.5261T= (p.Val1754=)
| |
| 1 | g.109264338G>A | CA987475 | CELSR2 | c.5262G>A (p.Val1754=)
| dbSNP ExAC gnomAD v2 |
| 1 | g.109264338G>C | CA419678548 | CELSR2 | c.5262G>C (p.Val1754=)
| |
| 1 | g.109264338G= | CA1148432183 | CELSR2 | c.5262G= (p.Val1754=)
| |
| 1 | g.109264338G>T | CA419678549 | CELSR2 | c.5262G>T (p.Val1754=)
| |
| 1 | g.109264339G>A | CA341501873 | CELSR2 | c.5263G>A (p.Ala1755Thr)
| gnomAD v4 |
| 1 | g.109264339G>C | CA341501874 | CELSR2 | c.5263G>C (p.Ala1755Pro)
| |
| 1 | g.109264339G>T | CA341501875 | CELSR2 | c.5263G>T (p.Ala1755Ser)
| gnomAD v4 |
| 1 | g.109264340C>A | CA341501876 | CELSR2 | c.5264C>A (p.Ala1755Asp)
| COSMIC |
| 1 | g.109264340C= | CA1188035024 | CELSR2 | c.5264C= (p.Ala1755=)
| |
| 1 | g.109264340C>G | CA341501877 | CELSR2 | c.5264C>G (p.Ala1755Gly)
| |
| 1 | g.109264340C>T | CA28632613 | CELSR2 | c.5264C>T (p.Ala1755Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264341C>A | CA419678553 | CELSR2 | c.5265C>A (p.Ala1755=)
| |
| 1 | g.109264341C>G | CA419678554 | CELSR2 | c.5265C>G (p.Ala1755=)
| |
| 1 | g.109264341C>T | CA419678555 | CELSR2 | c.5265C>T (p.Ala1755=)
| |
| 1 | g.109264342C>A | CA341501878 | CELSR2 | c.5266C>A (p.Arg1756Ser)
| |
| 1 | g.109264342C= | CA1141501046 | CELSR2 | c.5266C= (p.Arg1756=)
| |
| 1 | g.109264342C>G | CA987476 | CELSR2 | c.5266C>G (p.Arg1756Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264342C>T | CA987477 | CELSR2 | c.5266C>T (p.Arg1756Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264343G>A | CA987478 | CELSR2 | c.5267G>A (p.Arg1756His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.109264343G>C | CA341501879 | CELSR2 | c.5267G>C (p.Arg1756Pro)
| |
| 1 | g.109264343G= | CA1141884716 | CELSR2 | c.5267G= (p.Arg1756=)
| |
| 1 | g.109264343G>T | CA341501880 | CELSR2 | c.5267G>T (p.Arg1756Leu)
| |
| 1 | g.109264344T>A | CA419678563 | CELSR2 | c.5268T>A (p.Arg1756=)
| |
| 1 | g.109264344T>C | CA419678565 | CELSR2 | c.5268T>C (p.Arg1756=)
| |
| 1 | g.109264344T>G | CA419678566 | CELSR2 | c.5268T>G (p.Arg1756=)
| |
| 1 | g.109264345G>A | CA341501881 | CELSR2 | c.5269G>A (p.Gly1757Ser)
| |
| 1 | g.109264345G>C | CA341501882 | CELSR2 | c.5269G>C (p.Gly1757Arg)
| |
| 1 | g.109264345G>T | CA341501883 | CELSR2 | c.5269G>T (p.Gly1757Cys)
| |
| 1 | g.109264346G>A | CA341501884 | CELSR2 | c.5270G>A (p.Gly1757Asp)
| |
| 1 | g.109264346G>C | CA341501885 | CELSR2 | c.5270G>C (p.Gly1757Ala)
| |
| 1 | g.109264346G>T | CA341501886 | CELSR2 | c.5270G>T (p.Gly1757Val)
| |
| 1 | g.109264347C>A | CA419678569 | CELSR2 | c.5271C>A (p.Gly1757=)
| |
| 1 | g.109264347C>G | CA419678570 | CELSR2 | c.5271C>G (p.Gly1757=)
| |
| 1 | g.109264347C>T | CA419678571 | CELSR2 | c.5271C>T (p.Gly1757=)
| gnomAD v4 |
| 1 | g.109264348T>A | CA341501887 | CELSR2 | c.5272T>A (p.Phe1758Ile)
| |
| 1 | g.109264348T>C | CA341501888 | CELSR2 | c.5272T>C (p.Phe1758Leu)
| |
| 1 | g.109264348T>G | CA341501889 | CELSR2 | c.5272T>G (p.Phe1758Val)
| |
| 1 | g.109264349T>A | CA341501892 | CELSR2 | c.5273T>A (p.Phe1758Tyr)
| |
| 1 | g.109264349T>C | CA341501891 | CELSR2 | c.5273T>C (p.Phe1758Ser)
| |
| 1 | g.109264349T>G | CA341501890 | CELSR2 | c.5273T>G (p.Phe1758Cys)
| gnomAD v4 |
| 1 | g.109264350T>A | CA341501893 | CELSR2 | c.5274T>A (p.Phe1758Leu)
| |
| 1 | g.109264350T>C | CA419678575 | CELSR2 | c.5274T>C (p.Phe1758=)
| |
| 1 | g.109264350T>G | CA341501894 | CELSR2 | c.5274T>G (p.Phe1758Leu)
| |
| 1 | g.109264351C>A | CA419678576 | CELSR2 | c.5275C>A (p.Arg1759=)
| gnomAD v4 COSMIC |
| 1 | g.109264351C= | CA1188035025 | CELSR2 | c.5275C= (p.Arg1759=)
| |
| 1 | g.109264351C>G | CA341501895 | CELSR2 | c.5275C>G (p.Arg1759Gly)
| |
| 1 | g.109264351C>T | CA987479 | CELSR2 | c.5275C>T (p.Arg1759Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.109264352G>A | CA987480 | CELSR2 | c.5276G>A (p.Arg1759Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264352G>C | CA341501896 | CELSR2 | c.5276G>C (p.Arg1759Pro)
| gnomAD v4 |
| 1 | g.109264352G= | CA1188035026 | CELSR2 | c.5276G= (p.Arg1759=)
| |
| 1 | g.109264352G>T | CA341501897 | CELSR2 | c.5276G>T (p.Arg1759Leu)
| |
| 1 | g.109264353G>A | CA419678579 | CELSR2 | c.5277G>A (p.Arg1759=)
| dbSNP gnomAD v4 |
| 1 | g.109264353G>C | CA419678581 | CELSR2 | c.5277G>C (p.Arg1759=)
| |
| 1 | g.109264353G= | CA1188035027 | CELSR2 | c.5277G= (p.Arg1759=)
| |
| 1 | g.109264353G>T | CA419678583 | CELSR2 | c.5277G>T (p.Arg1759=)
| gnomAD v4 |
| 1 | g.109264354G>A | CA341501900 | CELSR2 | c.5278G>A (p.Gly1760Ser)
| |
| 1 | g.109264354G>C | CA341501899 | CELSR2 | c.5278G>C (p.Gly1760Arg)
| |
| 1 | g.109264354G>T | CA341501898 | CELSR2 | c.5278G>T (p.Gly1760Cys)
| |
| 1 | g.109264355G>A | CA341501901 | CELSR2 | c.5279G>A (p.Gly1760Asp)
| |
| 1 | g.109264355G>C | CA341501902 | CELSR2 | c.5279G>C (p.Gly1760Ala)
| |
| 1 | g.109264355G= | CA1188035028 | CELSR2 | c.5279G= (p.Gly1760=)
| |
| 1 | g.109264355G>T | CA28632622 | CELSR2 | c.5279G>T (p.Gly1760Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264356C>A | CA419678588 | CELSR2 | c.5280C>A (p.Gly1760=)
| |
| 1 | g.109264356C>G | CA419678589 | CELSR2 | c.5280C>G (p.Gly1760=)
| |
| 1 | g.109264356C>T | CA419678590 | CELSR2 | c.5280C>T (p.Gly1760=)
| |
| 1 | g.109264357T>A | CA987481 | CELSR2 | c.5281T>A (p.Cys1761Ser)
| dbSNP ExAC gnomAD v2 |
| 1 | g.109264357T>C | CA341501903 | CELSR2 | c.5281T>C (p.Cys1761Arg)
| |
| 1 | g.109264357T>G | CA341501904 | CELSR2 | c.5281T>G (p.Cys1761Gly)
| |
| 1 | g.109264357T= | CA1188035029 | CELSR2 | c.5281T= (p.Cys1761=)
| |
| 1 | g.109264358G>A | CA28632637 | CELSR2 | c.5282G>A (p.Cys1761Tyr)
| dbSNP gnomAD v4 |
| 1 | g.109264358G>C | CA341501906 | CELSR2 | c.5282G>C (p.Cys1761Ser)
| dbSNP gnomAD v4 |
| 1 | g.109264358G= | CA1188035030 | CELSR2 | c.5282G= (p.Cys1761=)
| |
| 1 | g.109264358G>T | CA341501905 | CELSR2 | c.5282G>T (p.Cys1761Phe)
| gnomAD v4 |
| 1 | g.109264359T>A | CA341501907 | CELSR2 | c.5283T>A (p.Cys1761Ter)
| |
| 1 | g.109264359T>C | CA987482 | CELSR2 | c.5283T>C (p.Cys1761=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264359T>G | CA341501908 | CELSR2 | c.5283T>G (p.Cys1761Trp)
| |
| 1 | g.109264359T= | CA1188035031 | CELSR2 | c.5283T= (p.Cys1761=)
| |
| 1 | g.109264360T>A | CA341501909 | CELSR2 | c.5284T>A (p.Leu1762Met)
| |
| 1 | g.109264360T>C | CA419678595 | CELSR2 | c.5284T>C (p.Leu1762=)
| |
| 1 | g.109264360T>G | CA987483 | CELSR2 | c.5284T>G (p.Leu1762Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264360T= | CA1188035032 | CELSR2 | c.5284T= (p.Leu1762=)
| |
| 1 | g.109264361T>A | CA341501910 | CELSR2 | c.5285T>A (p.Leu1762Ter)
| |
| 1 | g.109264361T>C | CA341501911 | CELSR2 | c.5285T>C (p.Leu1762Ser)
| |
| 1 | g.109264361T>G | CA341501912 | CELSR2 | c.5285T>G (p.Leu1762Trp)
| |
| 1 | g.109264362G>A | CA419678598 | CELSR2 | c.5286G>A (p.Leu1762=)
| |
| 1 | g.109264362G>C | CA341501913 | CELSR2 | c.5286G>C (p.Leu1762Phe)
| |
| 1 | g.109264362G= | CA1188035033 | CELSR2 | c.5286G= (p.Leu1762=)
| |
| 1 | g.109264362G>T | CA341501914 | CELSR2 | c.5286G>T (p.Leu1762Phe)
| dbSNP |
| 1 | g.109264363C>A | CA341501917 | CELSR2 | c.5287C>A (p.Gln1763Lys)
| |
| 1 | g.109264363C>G | CA341501916 | CELSR2 | c.5287C>G (p.Gln1763Glu)
| |
| 1 | g.109264363C>T | CA341501915 | CELSR2 | c.5287C>T (p.Gln1763Ter)
| |
| 1 | g.109264364A>C | CA341501918 | CELSR2 | c.5288A>C (p.Gln1763Pro)
| |
| 1 | g.109264364A>G | CA341501919 | CELSR2 | c.5288A>G (p.Gln1763Arg)
| |
| 1 | g.109264364A>T | CA341501920 | CELSR2 | c.5288A>T (p.Gln1763Leu)
| |
| 1 | g.109264365G>A | CA419678599 | CELSR2 | c.5289G>A (p.Gln1763=)
| gnomAD v4 |
| 1 | g.109264365G>C | CA341501921 | CELSR2 | c.5289G>C (p.Gln1763His)
| |
| 1 | g.109264365G>T | CA341501922 | CELSR2 | c.5289G>T (p.Gln1763His)
| |
| 1 | g.109264366G>A | CA341501923 | CELSR2 | c.5289+1G>A (n.5289+1G>A)
| |
| 1 | g.109264366G>C | CA341501924 | CELSR2 | c.5289+1G>C (n.5289+1G>C)
| |
| 1 | g.109264366G>T | CA341501925 | CELSR2 | c.5289+1G>T (n.5289+1G>T)
| |
| 1 | g.109264367T>A | CA341501926 | CELSR2 | c.5289+2T>A (n.5289+2T>A)
| |
| 1 | g.109264367T>C | CA341501927 | CELSR2 | c.5289+2T>C (n.5289+2T>C)
| |
| 1 | g.109264367T>G | CA341501928 | CELSR2 | c.5289+2T>G (n.5289+2T>G)
| dbSNP |
| 1 | g.109264367T= | CA1188035034 | CELSR2 | c.5289+2T= (n.5289+2T=)
| |
| 1 | g.109264371T>C | CA525625668 | CELSR2 | c.5289+6T>C (n.5289+6T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264371T>G | CA1188035036 | CELSR2 | c.5289+6T>G (n.5289+6T>G)
| dbSNP |
| 1 | g.109264371T= | CA1188035035 | CELSR2 | c.5289+6T= (n.5289+6T=)
| |
| 1 | g.109264374C>A | CA2646916124 | CELSR2 | c.5289+9C>A (n.5289+9C>A)
| gnomAD v4 |
| 1 | g.109264374C= | CA1188035037 | CELSR2 | c.5289+9C= (n.5289+9C=)
| |
| 1 | g.109264374C>T | CA987484 | CELSR2 | c.5289+9C>T (n.5289+9C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264382_109264386dup | CA2646916122 | CELSR2 | c.5289+17_5289+21dup (n.5289+17_5289+21dup)
| gnomAD v4 |
| 1 | g.109264382_109264386del | CA2646916123 | CELSR2 | c.5289+17_5289+21del (n.5289+17_5289+21del)
| gnomAD v4 |
| 1 | g.109264377G>A | CA1188035038 | CELSR2 | c.5289+12G>A (n.5289+12G>A)
| dbSNP gnomAD v4 |
| 1 | g.109264377G= | CA1146491531 | CELSR2 | c.5289+12G= (n.5289+12G=)
| |
| 1 | g.109264377G>T | CA987485 | CELSR2 | c.5289+12G>T (n.5289+12G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264378C= | CA1141299852 | CELSR2 | c.5289+13C= (n.5289+13C=)
| |
| 1 | g.109264378C>T | CA987486 | CELSR2 | c.5289+13C>T (n.5289+13C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264378_109264379insAAA | CA2646916131 | CELSR2 | c.5289+13_5289+14insAAA (n.5289+13_5289+14insAAA)
| gnomAD v4 |
| 1 | g.109264379C= | CA1188035039 | CELSR2 | c.5289+14C= (n.5289+14C=)
| |
| 1 | g.109264379C>G | CA28632648 | CELSR2 | c.5289+14C>G (n.5289+14C>G)
| dbSNP |
| 1 | g.109264380C>A | CA525625669 | CELSR2 | c.5289+15C>A (n.5289+15C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264380C= | CA1188035040 | CELSR2 | c.5289+15C= (n.5289+15C=)
| |
| 1 | g.109264380_109264381insA | CA2646916136 | CELSR2 | c.5289+15_5289+16insA (n.5289+15_5289+16insA)
| gnomAD v4 |
| 1 | g.109264381T>A | CA1005627680 | CELSR2 | c.5289+16T>A (n.5289+16T>A)
| gnomAD v3 gnomAD v4 |
| 1 | g.109264381T>G | CA2646916138 | CELSR2 | c.5289+16T>G (n.5289+16T>G)
| gnomAD v4 |
| 1 | g.109264381T= | CA1188035041 | CELSR2 | c.5289+16T= (n.5289+16T=)
| |
| 1 | g.109264382G>C | CA987487 | CELSR2 | c.5289+17G>C (n.5289+17G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264382G= | CA1188035042 | CELSR2 | c.5289+17G= (n.5289+17G=)
| |
| 1 | g.109264382G>T | CA2646916143 | CELSR2 | c.5289+17G>T (n.5289+17G>T)
| gnomAD v4 |
| 1 | g.109264382dup | CA1188035043 | CELSR2 | c.5289+17dup (n.5289+17dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264382_109264383insGCCA | CA2646916162 | CELSR2 | c.5289+17_5289+18insGCCA (n.5289+17_5289+18insGCCA)
| gnomAD v4 |
| 1 | g.109264382_109264383insGCCAA | CA2646916159 | CELSR2 | c.5289+17_5289+18insGCCAA (n.5289+17_5289+18insGCCAA)
| gnomAD v4 |
| 1 | g.109264382_109264383insGCCAC | CA2646916155 | CELSR2 | c.5289+17_5289+18insGCCAC (n.5289+17_5289+18insGCCAC)
| gnomAD v4 |
| 1 | g.109264382_109264383insGCCACCCCAA | CA2744995046 | CELSR2 | c.5289+17_5289+18insGCCACCCCAA (n.5289+17_5289+18insGCCACCCCAA)
| |
| 1 | g.109264382_109264383insGCCACCCCAACCCC | CA2646916148 | CELSR2 | c.5289+17_5289+18insGCCACCCCAACCCC (n.5289+17_5289+18insGCCACCCCAACCCC)
| gnomAD v4 |
| 1 | g.109264382_109264383insGCCAACCCAACCCAC | CA2646916157 | CELSR2 | c.5289+17_5289+18insGCCAACCCAACCCAC (n.5289+17_5289+18insGCCAACCCAACCCAC)
| gnomAD v4 |
| 1 | g.109264382_109264383insGCCACCCCAACCCCC | CA2646916153 | CELSR2 | c.5289+17_5289+18insGCCACCCCAACCCCC (n.5289+17_5289+18insGCCACCCCAACCCCC)
| gnomAD v4 |
| 1 | g.109264382_109264383insGCCACCCCAACCCACCCC | CA2646916168 | CELSR2 | c.5289+17_5289+18insGCCACCCCAACCCACCCC (n.5289+17_5289+18insGCCACCCCAACCCACCCC)
| gnomAD v4 |
| 1 | g.109264382_109264383insGCCACCCCAACCCCCCCC | CA2646916151 | CELSR2 | c.5289+17_5289+18insGCCACCCCAACCCCCCCC (n.5289+17_5289+18insGCCACCCCAACCCCCCCC)
| gnomAD v4 |
| 1 | g.109264383C= | CA1188035044 | CELSR2 | c.5289+18C= (n.5289+18C=)
| |
| 1 | g.109264383C>G | CA2646916149 | CELSR2 | c.5289+18C>G (n.5289+18C>G)
| dbSNP gnomAD v4 |
| 1 | g.109264383C>T | CA1188035045 | CELSR2 | c.5289+18C>T (n.5289+18C>T)
| dbSNP gnomAD v4 |
| 1 | g.109264385_109264386insAACCCAACCCAACCC | CA2646916165 | CELSR2 | c.5289+20_5289+21insAACCCAACCCAACCC (n.5289+20_5289+21insAACCCAACCCAACCC)
| gnomAD v4 |
| 1 | g.109264385_109264386insACCCAAACCCCCCCCCCC | CA2744995044 | CELSR2 | c.5289+20_5289+21insACCCAAACCCCCCCCCCC (n.5289+20_5289+21insACCCAAACCCCCCCCCCC)
| |
| 1 | g.109264385_109264386insACCCCAACCCCCCCCCCC | CA2646916164 | CELSR2 | c.5289+20_5289+21insACCCCAACCCCCCCCCCC (n.5289+20_5289+21insACCCCAACCCCCCCCCCC)
| gnomAD v4 |
| 1 | g.109264385dup | CA1005627683 | CELSR2 | c.5289+20dup (n.5289+20dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264386_109264389del | CA2646916150 | CELSR2 | c.5289+21_5289+24del (n.5289+21_5289+24del)
| gnomAD v4 |
