| 1 | g.109264480_109264485del | CA2744995104 | CELSR2 | c.5316_5321del (p.Glu1772_Val1774delinsAsp)
| |
| 1 | g.109264483G>A | CA419678425 | CELSR2 | c.5319G>A (p.Gly1773=)
| gnomAD v4 |
| 1 | g.109264483G>C | CA419678426 | CELSR2 | c.5319G>C (p.Gly1773=)
| |
| 1 | g.109264483G= | CA1188035107 | CELSR2 | c.5319G= (p.Gly1773=)
| |
| 1 | g.109264483G>T | CA419678427 | CELSR2 | c.5319G>T (p.Gly1773=)
| dbSNP gnomAD v2 |
| 1 | g.109264484G>A | CA341501993 | CELSR2 | c.5320G>A (p.Val1774Ile)
| gnomAD v4 |
| 1 | g.109264484G>C | CA341501994 | CELSR2 | c.5320G>C (p.Val1774Leu)
| |
| 1 | g.109264484G= | CA1188035108 | CELSR2 | c.5320G= (p.Val1774=)
| |
| 1 | g.109264484G>T | CA341501992 | CELSR2 | c.5320G>T (p.Val1774Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264485T>A | CA341501995 | CELSR2 | c.5321T>A (p.Val1774Asp)
| |
| 1 | g.109264485T>C | CA341501996 | CELSR2 | c.5321T>C (p.Val1774Ala)
| |
| 1 | g.109264485T>G | CA341501997 | CELSR2 | c.5321T>G (p.Val1774Gly)
| gnomAD v3 gnomAD v4 |
| 1 | g.109264486T>A | CA419678430 | CELSR2 | c.5322T>A (p.Val1774=)
| gnomAD v4 |
| 1 | g.109264486T>C | CA419678434 | CELSR2 | c.5322T>C (p.Val1774=)
| |
| 1 | g.109264486T>G | CA419678435 | CELSR2 | c.5322T>G (p.Val1774=)
| |
| 1 | g.109264486_109264487insCATTAAA | CA2744995105 | CELSR2 | c.5322_5323insCATTAAA (p.Asn1775HisfsTer2)
| |
| 1 | g.109264487A= | CA1188035109 | CELSR2 | c.5323A= (p.Asn1775=)
| |
| 1 | g.109264487A>C | CA341501998 | CELSR2 | c.5323A>C (p.Asn1775His)
| |
| 1 | g.109264487A>G | CA987523 | CELSR2 | c.5323A>G (p.Asn1775Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264487A>T | CA341501999 | CELSR2 | c.5323A>T (p.Asn1775Tyr)
| |
| 1 | g.109264488A= | CA1188035110 | CELSR2 | c.5324A= (p.Asn1775=)
| |
| 1 | g.109264488A>C | CA341502002 | CELSR2 | c.5324A>C (p.Asn1775Thr)
| dbSNP |
| 1 | g.109264488A>G | CA341502000 | CELSR2 | c.5324A>G (p.Asn1775Ser)
| gnomAD v4 |
| 1 | g.109264488A>T | CA341502001 | CELSR2 | c.5324A>T (p.Asn1775Ile)
| |
| 1 | g.109264489C>A | CA341502003 | CELSR2 | c.5325C>A (p.Asn1775Lys)
| |
| 1 | g.109264489C>G | CA341502004 | CELSR2 | c.5325C>G (p.Asn1775Lys)
| |
| 1 | g.109264489C>T | CA419678452 | CELSR2 | c.5325C>T (p.Asn1775=)
| gnomAD v4 |
| 1 | g.109264490A>C | CA341502005 | CELSR2 | c.5326A>C (p.Ser1776Arg)
| |
| 1 | g.109264490A>G | CA341502006 | CELSR2 | c.5326A>G (p.Ser1776Gly)
| gnomAD v4 |
| 1 | g.109264490A>T | CA341502007 | CELSR2 | c.5326A>T (p.Ser1776Cys)
| |
| 1 | g.109264491G>A | CA341502008 | CELSR2 | c.5327G>A (p.Ser1776Asn)
| |
| 1 | g.109264491G>C | CA341502010 | CELSR2 | c.5327G>C (p.Ser1776Thr)
| |
| 1 | g.109264491G>T | CA341502009 | CELSR2 | c.5327G>T (p.Ser1776Ile)
| |
| 1 | g.109264492C>A | CA341502011 | CELSR2 | c.5328C>A (p.Ser1776Arg)
| |
| 1 | g.109264492C= | CA1188035111 | CELSR2 | c.5328C= (p.Ser1776=)
| |
| 1 | g.109264492C>G | CA341502012 | CELSR2 | c.5328C>G (p.Ser1776Arg)
| |
| 1 | g.109264492C>T | CA28632832 | CELSR2 | c.5328C>T (p.Ser1776=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.109264493C>A | CA28632843 | CELSR2 | c.5329C>A (p.Leu1777Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264493C= | CA1144088492 | CELSR2 | c.5329C= (p.Leu1777=)
| |
| 1 | g.109264493C>G | CA341502013 | CELSR2 | c.5329C>G (p.Leu1777Val)
| |
| 1 | g.109264493C>T | CA419678473 | CELSR2 | c.5329C>T (p.Leu1777=)
| gnomAD v4 |
| 1 | g.109264494T>A | CA341502014 | CELSR2 | c.5330T>A (p.Leu1777Gln)
| |
| 1 | g.109264494T>C | CA341502015 | CELSR2 | c.5330T>C (p.Leu1777Pro)
| gnomAD v4 |
| 1 | g.109264494T>G | CA341502016 | CELSR2 | c.5330T>G (p.Leu1777Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264494T= | CA1188035112 | CELSR2 | c.5330T= (p.Leu1777=)
| |
| 1 | g.109264495G>A | CA419678476 | CELSR2 | c.5331G>A (p.Leu1777=)
| |
| 1 | g.109264495G>C | CA419678478 | CELSR2 | c.5331G>C (p.Leu1777=)
| |
| 1 | g.109264495G>T | CA419678481 | CELSR2 | c.5331G>T (p.Leu1777=)
| |
| 1 | g.109264496G>A | CA341502017 | CELSR2 | c.5332G>A (p.Asp1778Asn)
| |
| 1 | g.109264496G>C | CA341502018 | CELSR2 | c.5332G>C (p.Asp1778His)
| |
| 1 | g.109264496G>T | CA341502019 | CELSR2 | c.5332G>T (p.Asp1778Tyr)
| |
| 1 | g.109264497A>C | CA341502020 | CELSR2 | c.5333A>C (p.Asp1778Ala)
| |
| 1 | g.109264497A>G | CA341502021 | CELSR2 | c.5333A>G (p.Asp1778Gly)
| |
| 1 | g.109264497A>T | CA341502022 | CELSR2 | c.5333A>T (p.Asp1778Val)
| |
| 1 | g.109264498T>A | CA341502023 | CELSR2 | c.5334T>A (p.Asp1778Glu)
| |
| 1 | g.109264498T>C | CA419678494 | CELSR2 | c.5334T>C (p.Asp1778=)
| |
| 1 | g.109264498T>G | CA341502024 | CELSR2 | c.5334T>G (p.Asp1778Glu)
| |
| 1 | g.109264499C>A | CA341502025 | CELSR2 | c.5335C>A (p.Pro1779Thr)
| |
| 1 | g.109264499C>G | CA341502027 | CELSR2 | c.5335C>G (p.Pro1779Ala)
| |
| 1 | g.109264499C>T | CA341502026 | CELSR2 | c.5335C>T (p.Pro1779Ser)
| |
| 1 | g.109264500C>A | CA341502028 | CELSR2 | c.5336C>A (p.Pro1779His)
| |
| 1 | g.109264500C= | CA1188035113 | CELSR2 | c.5336C= (p.Pro1779=)
| |
| 1 | g.109264500C>G | CA341502029 | CELSR2 | c.5336C>G (p.Pro1779Arg)
| |
| 1 | g.109264500C>T | CA341502030 | CELSR2 | c.5336C>T (p.Pro1779Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264501C>A | CA419678507 | CELSR2 | c.5337C>A (p.Pro1779=)
| |
| 1 | g.109264501C>G | CA419678505 | CELSR2 | c.5337C>G (p.Pro1779=)
| |
| 1 | g.109264501C>T | CA419678504 | CELSR2 | c.5337C>T (p.Pro1779=)
| |
| 1 | g.109264502A>C | CA341502031 | CELSR2 | c.5338A>C (p.Ser1780Arg)
| |
| 1 | g.109264502A>G | CA341502032 | CELSR2 | c.5338A>G (p.Ser1780Gly)
| |
| 1 | g.109264502A>T | CA341502033 | CELSR2 | c.5338A>T (p.Ser1780Cys)
| |
| 1 | g.109264503G>A | CA341502034 | CELSR2 | c.5339G>A (p.Ser1780Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264503G>C | CA341502035 | CELSR2 | c.5339G>C (p.Ser1780Thr)
| |
| 1 | g.109264503G= | CA1188035114 | CELSR2 | c.5339G= (p.Ser1780=)
| |
| 1 | g.109264503G>T | CA341502036 | CELSR2 | c.5339G>T (p.Ser1780Ile)
| |
| 1 | g.109264504C>A | CA341502037 | CELSR2 | c.5340C>A (p.Ser1780Arg)
| gnomAD v4 COSMIC |
| 1 | g.109264504C>G | CA341502038 | CELSR2 | c.5340C>G (p.Ser1780Arg)
| |
| 1 | g.109264504C>T | CA419678521 | CELSR2 | c.5340C>T (p.Ser1780=)
| gnomAD v4 |
| 1 | g.109264505C>A | CA341502041 | CELSR2 | c.5341C>A (p.His1781Asn)
| |
| 1 | g.109264505C>G | CA341502040 | CELSR2 | c.5341C>G (p.His1781Asp)
| |
| 1 | g.109264505C>T | CA341502039 | CELSR2 | c.5341C>T (p.His1781Tyr)
| gnomAD v4 |
| 1 | g.109264506A>C | CA341502042 | CELSR2 | c.5342A>C (p.His1781Pro)
| |
| 1 | g.109264506A>G | CA341502043 | CELSR2 | c.5342A>G (p.His1781Arg)
| gnomAD v4 |
| 1 | g.109264506A>T | CA341502044 | CELSR2 | c.5342A>T (p.His1781Leu)
| |
| 1 | g.109264507T>A | CA341502045 | CELSR2 | c.5343T>A (p.His1781Gln)
| |
| 1 | g.109264507T>C | CA987524 | CELSR2 | c.5343T>C (p.His1781=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264507T>G | CA341502046 | CELSR2 | c.5343T>G (p.His1781Gln)
| |
| 1 | g.109264507T= | CA1188035115 | CELSR2 | c.5343T= (p.His1781=)
| |
| 1 | g.109264508G>A | CA341502047 | CELSR2 | c.5344G>A (p.Gly1782Arg)
| |
| 1 | g.109264508G>C | CA341502048 | CELSR2 | c.5344G>C (p.Gly1782Arg)
| |
| 1 | g.109264508G>T | CA341502049 | CELSR2 | c.5344G>T (p.Gly1782Trp)
| |
| 1 | g.109264509G>A | CA341502050 | CELSR2 | c.5345G>A (p.Gly1782Glu)
| |
| 1 | g.109264509G>C | CA341502051 | CELSR2 | c.5345G>C (p.Gly1782Ala)
| |
| 1 | g.109264509G>T | CA341502052 | CELSR2 | c.5345G>T (p.Gly1782Val)
| |
| 1 | g.109264510G>A | CA419678529 | CELSR2 | c.5346G>A (p.Gly1782=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264510G>C | CA419678531 | CELSR2 | c.5346G>C (p.Gly1782=)
| |
| 1 | g.109264510G= | CA1188035116 | CELSR2 | c.5346G= (p.Gly1782=)
| |
| 1 | g.109264510G>T | CA419678533 | CELSR2 | c.5346G>T (p.Gly1782=)
| |
| 1 | g.109264511G>A | CA341502055 | CELSR2 | c.5347G>A (p.Glu1783Lys)
| |
| 1 | g.109264511G>C | CA341502054 | CELSR2 | c.5347G>C (p.Glu1783Gln)
| gnomAD v4 |
| 1 | g.109264511G>T | CA341502053 | CELSR2 | c.5347G>T (p.Glu1783Ter)
| |
| 1 | g.109264512A>C | CA341502058 | CELSR2 | c.5348A>C (p.Glu1783Ala)
| |
| 1 | g.109264512A>G | CA341502056 | CELSR2 | c.5348A>G (p.Glu1783Gly)
| |
| 1 | g.109264512A>T | CA341502057 | CELSR2 | c.5348A>T (p.Glu1783Val)
| |
| 1 | g.109264513G>A | CA419678547 | CELSR2 | c.5349G>A (p.Glu1783=)
| gnomAD v4 |
| 1 | g.109264513G>C | CA341502059 | CELSR2 | c.5349G>C (p.Glu1783Asp)
| |
| 1 | g.109264513G>T | CA341502060 | CELSR2 | c.5349G>T (p.Glu1783Asp)
| |
| 1 | g.109264514A= | CA1188035117 | CELSR2 | c.5350A= (p.Ser1784=)
| |
| 1 | g.109264514A>C | CA341502061 | CELSR2 | c.5350A>C (p.Ser1784Arg)
| |
| 1 | g.109264514A>G | CA341502062 | CELSR2 | c.5350A>G (p.Ser1784Gly)
| dbSNP |
| 1 | g.109264514A>T | CA341502063 | CELSR2 | c.5350A>T (p.Ser1784Cys)
| |
| 1 | g.109264515G>A | CA341502064 | CELSR2 | c.5351G>A (p.Ser1784Asn)
| dbSNP gnomAD v4 |
| 1 | g.109264515G>C | CA341502065 | CELSR2 | c.5351G>C (p.Ser1784Thr)
| |
| 1 | g.109264515G= | CA1188035118 | CELSR2 | c.5351G= (p.Ser1784=)
| |
| 1 | g.109264515G>T | CA341502066 | CELSR2 | c.5351G>T (p.Ser1784Ile)
| |
| 1 | g.109264516C>A | CA341502067 | CELSR2 | c.5352C>A (p.Ser1784Arg)
| |
| 1 | g.109264516C= | CA1188035119 | CELSR2 | c.5352C= (p.Ser1784=)
| |
| 1 | g.109264516C>G | CA341502068 | CELSR2 | c.5352C>G (p.Ser1784Arg)
| gnomAD v4 |
| 1 | g.109264516C>T | CA987525 | CELSR2 | c.5352C>T (p.Ser1784=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264517A>C | CA341502071 | CELSR2 | c.5353A>C (p.Ile1785Leu)
| |
| 1 | g.109264517A>G | CA341502069 | CELSR2 | c.5353A>G (p.Ile1785Val)
| |
| 1 | g.109264517A>T | CA341502070 | CELSR2 | c.5353A>T (p.Ile1785Phe)
| |
| 1 | g.109264518T>A | CA341502072 | CELSR2 | c.5354T>A (p.Ile1785Asn)
| |
| 1 | g.109264518T>C | CA341502073 | CELSR2 | c.5354T>C (p.Ile1785Thr)
| |
| 1 | g.109264518T>G | CA341502074 | CELSR2 | c.5354T>G (p.Ile1785Ser)
| |
| 1 | g.109264519C>A | CA419678561 | CELSR2 | c.5355C>A (p.Ile1785=)
| |
| 1 | g.109264519C= | CA1188035120 | CELSR2 | c.5355C= (p.Ile1785=)
| |
| 1 | g.109264519C>G | CA341502075 | CELSR2 | c.5355C>G (p.Ile1785Met)
| |
| 1 | g.109264519C>T | CA419678559 | CELSR2 | c.5355C>T (p.Ile1785=)
| dbSNP |
| 1 | g.109264520A>C | CA341502076 | CELSR2 | c.5356A>C (p.Asn1786His)
| |
| 1 | g.109264520A>G | CA341502077 | CELSR2 | c.5356A>G (p.Asn1786Asp)
| |
| 1 | g.109264520A>T | CA341502078 | CELSR2 | c.5356A>T (p.Asn1786Tyr)
| |
| 1 | g.109264521A= | CA1148442087 | CELSR2 | c.5357A= (p.Asn1786=)
| |
| 1 | g.109264521A>C | CA341502079 | CELSR2 | c.5357A>C (p.Asn1786Thr)
| |
| 1 | g.109264521A>G | CA987526 | CELSR2 | c.5357A>G (p.Asn1786Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264521A>T | CA341502080 | CELSR2 | c.5357A>T (p.Asn1786Ile)
| |
| 1 | g.109264522C>A | CA341502081 | CELSR2 | c.5358C>A (p.Asn1786Lys)
| |
| 1 | g.109264522C= | CA1146044469 | CELSR2 | c.5358C= (p.Asn1786=)
| |
| 1 | g.109264522C>G | CA341502082 | CELSR2 | c.5358C>G (p.Asn1786Lys)
| |
| 1 | g.109264522C>T | CA987527 | CELSR2 | c.5358C>T (p.Asn1786=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264523G>A | CA987528 | CELSR2 | c.5359G>A (p.Val1787Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.109264523G>C | CA987529 | CELSR2 | c.5359G>C (p.Val1787Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264523G= | CA1143632039 | CELSR2 | c.5359G= (p.Val1787=)
| |
| 1 | g.109264523G>T | CA341502083 | CELSR2 | c.5359G>T (p.Val1787Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264524T>A | CA341502084 | CELSR2 | c.5360T>A (p.Val1787Glu)
| |
| 1 | g.109264524T>C | CA341502085 | CELSR2 | c.5360T>C (p.Val1787Ala)
| |
| 1 | g.109264524T>G | CA341502086 | CELSR2 | c.5360T>G (p.Val1787Gly)
| |
| 1 | g.109264525G>A | CA419678585 | CELSR2 | c.5361G>A (p.Val1787=)
| |
| 1 | g.109264525G>C | CA419678586 | CELSR2 | c.5361G>C (p.Val1787=)
| |
| 1 | g.109264525G>T | CA419678587 | CELSR2 | c.5361G>T (p.Val1787=)
| |
| 1 | g.109264526G>A | CA341502087 | CELSR2 | c.5362G>A (p.Glu1788Lys)
| |
| 1 | g.109264526G>C | CA341502088 | CELSR2 | c.5362G>C (p.Glu1788Gln)
| |
| 1 | g.109264526G>T | CA341502089 | CELSR2 | c.5362G>T (p.Glu1788Ter)
| |
| 1 | g.109264527A= | CA1188035121 | CELSR2 | c.5363A= (p.Glu1788=)
| |
| 1 | g.109264527A>C | CA341502092 | CELSR2 | c.5363A>C (p.Glu1788Ala)
| |
| 1 | g.109264527A>G | CA341502091 | CELSR2 | c.5363A>G (p.Glu1788Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264527A>T | CA341502090 | CELSR2 | c.5363A>T (p.Glu1788Val)
| |
| 1 | g.109264528G>A | CA987530 | CELSR2 | c.5364G>A (p.Glu1788=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264528G>C | CA341502093 | CELSR2 | c.5364G>C (p.Glu1788Asp)
| |
| 1 | g.109264528G= | CA1188035122 | CELSR2 | c.5364G= (p.Glu1788=)
| |
| 1 | g.109264528G>T | CA341502094 | CELSR2 | c.5364G>T (p.Glu1788Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264529C>A | CA341502095 | CELSR2 | c.5365C>A (p.Gln1789Lys)
| |
| 1 | g.109264529C>G | CA341502096 | CELSR2 | c.5365C>G (p.Gln1789Glu)
| |
| 1 | g.109264529C>T | CA341502097 | CELSR2 | c.5365C>T (p.Gln1789Ter)
| |
| 1 | g.109264530A>C | CA341502098 | CELSR2 | c.5366A>C (p.Gln1789Pro)
| |
| 1 | g.109264530A>G | CA341502100 | CELSR2 | c.5366A>G (p.Gln1789Arg)
| |
| 1 | g.109264530A>T | CA341502099 | CELSR2 | c.5366A>T (p.Gln1789Leu)
| |
| 1 | g.109264531A= | CA1188035123 | CELSR2 | c.5367A= (p.Gln1789=)
| |
| 1 | g.109264531A>C | CA341502101 | CELSR2 | c.5367A>C (p.Gln1789His)
| |
| 1 | g.109264531A>G | CA987531 | CELSR2 | c.5367A>G (p.Gln1789=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264531A>T | CA341502102 | CELSR2 | c.5367A>T (p.Gln1789His)
| |
| 1 | g.109264532G>A | CA341502103 | CELSR2 | c.5368G>A (p.Gly1790Ser)
| dbSNP COSMIC |
| 1 | g.109264532G>C | CA341502104 | CELSR2 | c.5368G>C (p.Gly1790Arg)
| |
| 1 | g.109264532G= | CA1188035124 | CELSR2 | c.5368G= (p.Gly1790=)
| |
| 1 | g.109264532G>T | CA341502105 | CELSR2 | c.5368G>T (p.Gly1790Cys)
| |
| 1 | g.109264533G>A | CA341502106 | CELSR2 | c.5369G>A (p.Gly1790Asp)
| |
| 1 | g.109264533G>C | CA341502107 | CELSR2 | c.5369G>C (p.Gly1790Ala)
| |
| 1 | g.109264533G>T | CA341502108 | CELSR2 | c.5369G>T (p.Gly1790Val)
| |
| 1 | g.109264534C>A | CA419678602 | CELSR2 | c.5370C>A (p.Gly1790=)
| |
| 1 | g.109264534C>G | CA419678604 | CELSR2 | c.5370C>G (p.Gly1790=)
| |
| 1 | g.109264534C>T | CA419678606 | CELSR2 | c.5370C>T (p.Gly1790=)
| |
| 1 | g.109264535T>A | CA341502109 | CELSR2 | c.5371T>A (p.Cys1791Ser)
| |
| 1 | g.109264535T>C | CA341502110 | CELSR2 | c.5371T>C (p.Cys1791Arg)
| dbSNP |
| 1 | g.109264535T>G | CA341502111 | CELSR2 | c.5371T>G (p.Cys1791Gly)
| |
| 1 | g.109264535T= | CA1188035125 | CELSR2 | c.5371T= (p.Cys1791=)
| |
| 1 | g.109264536G>A | CA341502114 | CELSR2 | c.5372G>A (p.Cys1791Tyr)
| |
| 1 | g.109264536G>C | CA341502112 | CELSR2 | c.5372G>C (p.Cys1791Ser)
| |
| 1 | g.109264536G>T | CA341502113 | CELSR2 | c.5372G>T (p.Cys1791Phe)
| |
| 1 | g.109264537T>A | CA341502115 | CELSR2 | c.5373T>A (p.Cys1791Ter)
| |
| 1 | g.109264537T>C | CA419678612 | CELSR2 | c.5373T>C (p.Cys1791=)
| |
| 1 | g.109264537T>G | CA341502116 | CELSR2 | c.5373T>G (p.Cys1791Trp)
| |
| 1 | g.109264538A>C | CA341502117 | CELSR2 | c.5374A>C (p.Ser1792Arg)
| |
| 1 | g.109264538A>G | CA341502118 | CELSR2 | c.5374A>G (p.Ser1792Gly)
| |
| 1 | g.109264538A>T | CA341502119 | CELSR2 | c.5374A>T (p.Ser1792Cys)
| |
| 1 | g.109264539G>A | CA341502120 | CELSR2 | c.5375G>A (p.Ser1792Asn)
| |
| 1 | g.109264539G>C | CA341502121 | CELSR2 | c.5375G>C (p.Ser1792Thr)
| |
| 1 | g.109264539G>T | CA341502122 | CELSR2 | c.5375G>T (p.Ser1792Ile)
| |
| 1 | g.109264540C>A | CA341502123 | CELSR2 | c.5376C>A (p.Ser1792Arg)
| |
| 1 | g.109264540C= | CA1188035126 | CELSR2 | c.5376C= (p.Ser1792=)
| |
| 1 | g.109264540C>G | CA341502124 | CELSR2 | c.5376C>G (p.Ser1792Arg)
| gnomAD v4 |
| 1 | g.109264540C>T | CA987532 | CELSR2 | c.5376C>T (p.Ser1792=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264541C>A | CA341502125 | CELSR2 | c.5377C>A (p.Leu1793Met)
| |
| 1 | g.109264541C>G | CA341502126 | CELSR2 | c.5377C>G (p.Leu1793Val)
| |
| 1 | g.109264541C>T | CA419678620 | CELSR2 | c.5377C>T (p.Leu1793=)
| gnomAD v4 |
| 1 | g.109264542T>A | CA341502129 | CELSR2 | c.5378T>A (p.Leu1793Gln)
| |
| 1 | g.109264542T>C | CA341502127 | CELSR2 | c.5378T>C (p.Leu1793Pro)
| gnomAD v4 |
| 1 | g.109264542T>G | CA341502128 | CELSR2 | c.5378T>G (p.Leu1793Arg)
| |
| 1 | g.109264543G>A | CA419678627 | CELSR2 | c.5379G>A (p.Leu1793=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264543G>C | CA419678628 | CELSR2 | c.5379G>C (p.Leu1793=)
| |
| 1 | g.109264543G= | CA1188035127 | CELSR2 | c.5379G= (p.Leu1793=)
| |
| 1 | g.109264543G>T | CA419678629 | CELSR2 | c.5379G>T (p.Leu1793=)
| |
| 1 | g.109264544C>A | CA341502130 | CELSR2 | c.5380C>A (p.Pro1794Thr)
| |
| 1 | g.109264544C>G | CA341502131 | CELSR2 | c.5380C>G (p.Pro1794Ala)
| |
| 1 | g.109264544C>T | CA341502132 | CELSR2 | c.5380C>T (p.Pro1794Ser)
| |
| 1 | g.109264545C>A | CA341502133 | CELSR2 | c.5381C>A (p.Pro1794His)
| |
| 1 | g.109264545C>G | CA341502134 | CELSR2 | c.5381C>G (p.Pro1794Arg)
| |
| 1 | g.109264545C>T | CA341502135 | CELSR2 | c.5381C>T (p.Pro1794Leu)
| |
| 1 | g.109264546T>A | CA419678635 | CELSR2 | c.5382T>A (p.Pro1794=)
| |
| 1 | g.109264546T>C | CA419678636 | CELSR2 | c.5382T>C (p.Pro1794=)
| |
| 1 | g.109264546T>G | CA419678637 | CELSR2 | c.5382T>G (p.Pro1794=)
| |
| 1 | g.109264547G>A | CA341502136 | CELSR2 | c.5383G>A (p.Asp1795Asn)
| dbSNP gnomAD v2 |
| 1 | g.109264547G>C | CA341502137 | CELSR2 | c.5383G>C (p.Asp1795His)
| |
| 1 | g.109264547G= | CA1188035128 | CELSR2 | c.5383G= (p.Asp1795=)
| |
| 1 | g.109264547G>T | CA341502138 | CELSR2 | c.5383G>T (p.Asp1795Tyr)
| |
| 1 | g.109264548A>C | CA341502139 | CELSR2 | c.5384A>C (p.Asp1795Ala)
| |
| 1 | g.109264548A>G | CA341502140 | CELSR2 | c.5384A>G (p.Asp1795Gly)
| |
| 1 | g.109264548A>T | CA341502141 | CELSR2 | c.5384A>T (p.Asp1795Val)
| |
| 1 | g.109264549C>A | CA341502142 | CELSR2 | c.5385C>A (p.Asp1795Glu)
| |
| 1 | g.109264549C= | CA1142186569 | CELSR2 | c.5385C= (p.Asp1795=)
| |
| 1 | g.109264549C>G | CA341502143 | CELSR2 | c.5385C>G (p.Asp1795Glu)
| |
| 1 | g.109264549C>T | CA987533 | CELSR2 | c.5385C>T (p.Asp1795=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264550C>A | CA341502144 | CELSR2 | c.5386C>A (p.Pro1796Thr)
| |
| 1 | g.109264550C= | CA1188035129 | CELSR2 | c.5386C= (p.Pro1796=)
| |
| 1 | g.109264550C>G | CA987534 | CELSR2 | c.5386C>G (p.Pro1796Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264550C>T | CA341502145 | CELSR2 | c.5386C>T (p.Pro1796Ser)
| |
| 1 | g.109264551C>A | CA341502146 | CELSR2 | c.5387C>A (p.Pro1796His)
| |
| 1 | g.109264551C= | CA1188035130 | CELSR2 | c.5387C= (p.Pro1796=)
| |
| 1 | g.109264551C>G | CA341502147 | CELSR2 | c.5387C>G (p.Pro1796Arg)
| |
| 1 | g.109264551C>T | CA28632930 | CELSR2 | c.5387C>T (p.Pro1796Leu)
| dbSNP |
| 1 | g.109264552T>A | CA419678648 | CELSR2 | c.5388T>A (p.Pro1796=)
| |
| 1 | g.109264552T>C | CA987535 | CELSR2 | c.5388T>C (p.Pro1796=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264552T>G | CA419678650 | CELSR2 | c.5388T>G (p.Pro1796=)
| |
| 1 | g.109264552T= | CA1188035131 | CELSR2 | c.5388T= (p.Pro1796=)
| |
| 1 | g.109264553T>A | CA341502148 | CELSR2 | c.5389T>A (p.Cys1797Ser)
| |
| 1 | g.109264553T>C | CA341502149 | CELSR2 | c.5389T>C (p.Cys1797Arg)
| |
| 1 | g.109264553T>G | CA341502150 | CELSR2 | c.5389T>G (p.Cys1797Gly)
| |
| 1 | g.109264554G>A | CA341502151 | CELSR2 | c.5390G>A (p.Cys1797Tyr)
| |
| 1 | g.109264554G>C | CA341502152 | CELSR2 | c.5390G>C (p.Cys1797Ser)
| |
| 1 | g.109264554G>T | CA341502153 | CELSR2 | c.5390G>T (p.Cys1797Phe)
| |
| 1 | g.109264555T>A | CA341502154 | CELSR2 | c.5391T>A (p.Cys1797Ter)
| |
| 1 | g.109264555T>C | CA419678654 | CELSR2 | c.5391T>C (p.Cys1797=)
| |
| 1 | g.109264555T>G | CA341502155 | CELSR2 | c.5391T>G (p.Cys1797Trp)
| |
| 1 | g.109264556G>A | CA341502158 | CELSR2 | c.5392G>A (p.Asp1798Asn)
| |
| 1 | g.109264556G>C | CA341502157 | CELSR2 | c.5392G>C (p.Asp1798His)
| |
| 1 | g.109264556G>T | CA341502156 | CELSR2 | c.5392G>T (p.Asp1798Tyr)
| |
| 1 | g.109264557A= | CA1188035132 | CELSR2 | c.5393A= (p.Asp1798=)
| |
| 1 | g.109264557A>C | CA341502161 | CELSR2 | c.5393A>C (p.Asp1798Ala)
| |
| 1 | g.109264557A>G | CA341502162 | CELSR2 | c.5393A>G (p.Asp1798Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264557A>T | CA341502163 | CELSR2 | c.5393A>T (p.Asp1798Val)
| |
| 1 | g.109264558C>A | CA341502164 | CELSR2 | c.5394C>A (p.Asp1798Glu)
| |
| 1 | g.109264558C= | CA1188035133 | CELSR2 | c.5394C= (p.Asp1798=)
| |
| 1 | g.109264558C>G | CA341502165 | CELSR2 | c.5394C>G (p.Asp1798Glu)
| |
| 1 | g.109264558C>T | CA419678662 | CELSR2 | c.5394C>T (p.Asp1798=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264559T>A | CA341502166 | CELSR2 | c.5395T>A (p.Ser1799Thr)
| |
| 1 | g.109264559T>C | CA341502167 | CELSR2 | c.5395T>C (p.Ser1799Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264559T>G | CA341502168 | CELSR2 | c.5395T>G (p.Ser1799Ala)
| |
| 1 | g.109264559T= | CA1188035134 | CELSR2 | c.5395T= (p.Ser1799=)
| |
| 1 | g.109264560C>A | CA341502169 | CELSR2 | c.5396C>A (p.Ser1799Ter)
| |
| 1 | g.109264560C= | CA1188035135 | CELSR2 | c.5396C= (p.Ser1799=)
| |
| 1 | g.109264560C>G | CA987536 | CELSR2 | c.5396C>G (p.Ser1799Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264560C>T | CA341502170 | CELSR2 | c.5396C>T (p.Ser1799Leu)
| gnomAD v4 |
| 1 | g.109264561A>C | CA419678668 | CELSR2 | c.5397A>C (p.Ser1799=)
| |
| 1 | g.109264561A>G | CA419678670 | CELSR2 | c.5397A>G (p.Ser1799=)
| |
| 1 | g.109264561A>T | CA419678671 | CELSR2 | c.5397A>T (p.Ser1799=)
| |
| 1 | g.109264562A= | CA1188035136 | CELSR2 | c.5398A= (p.Asn1800=)
| |
| 1 | g.109264562A>C | CA341502172 | CELSR2 | c.5398A>C (p.Asn1800His)
| dbSNP |
| 1 | g.109264562A>G | CA341502173 | CELSR2 | c.5398A>G (p.Asn1800Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264562A>T | CA341502171 | CELSR2 | c.5398A>T (p.Asn1800Tyr)
| |
| 1 | g.109264563A= | CA1148571855 | CELSR2 | c.5399A= (p.Asn1800=)
| |
| 1 | g.109264563A>C | CA341502174 | CELSR2 | c.5399A>C (p.Asn1800Thr)
| |
| 1 | g.109264563A>G | CA341502175 | CELSR2 | c.5399A>G (p.Asn1800Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264563A>T | CA987537 | CELSR2 | c.5399A>T (p.Asn1800Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264564C>A | CA341502176 | CELSR2 | c.5400C>A (p.Asn1800Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264564C= | CA1140909625 | CELSR2 | c.5400C= (p.Asn1800=)
| |
| 1 | g.109264564C>G | CA341502177 | CELSR2 | c.5400C>G (p.Asn1800Lys)
| |
| 1 | g.109264564C>T | CA987538 | CELSR2 | c.5400C>T (p.Asn1800=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264565C>A | CA341502178 | CELSR2 | c.5401C>A (p.Pro1801Thr)
| |
| 1 | g.109264565C>G | CA341502180 | CELSR2 | c.5401C>G (p.Pro1801Ala)
| |
| 1 | g.109264565C>T | CA341502179 | CELSR2 | c.5401C>T (p.Pro1801Ser)
| gnomAD v4 |
| 1 | g.109264566C>A | CA341502181 | CELSR2 | c.5402C>A (p.Pro1801Gln)
| COSMIC |
| 1 | g.109264566C= | CA1188035137 | CELSR2 | c.5402C= (p.Pro1801=)
| |
| 1 | g.109264566C>G | CA341502182 | CELSR2 | c.5402C>G (p.Pro1801Arg)
| |
| 1 | g.109264566C>T | CA341502183 | CELSR2 | c.5402C>T (p.Pro1801Leu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.109264567G>A | CA987539 | CELSR2 | c.5403G>A (p.Pro1801=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264567G>C | CA419678687 | CELSR2 | c.5403G>C (p.Pro1801=)
| dbSNP gnomAD v4 |
| 1 | g.109264567G= | CA1188035138 | CELSR2 | c.5403G= (p.Pro1801=)
| |
| 1 | g.109264567G>T | CA419678688 | CELSR2 | c.5403G>T (p.Pro1801=)
| |
| 1 | g.109264568T>A | CA341502184 | CELSR2 | c.5404T>A (p.Cys1802Ser)
| |
| 1 | g.109264568T>C | CA341502186 | CELSR2 | c.5404T>C (p.Cys1802Arg)
| |
| 1 | g.109264568T>G | CA341502185 | CELSR2 | c.5404T>G (p.Cys1802Gly)
| |
| 1 | g.109264569G>A | CA341502187 | CELSR2 | c.5405G>A (p.Cys1802Tyr)
| COSMIC |
| 1 | g.109264569G>C | CA987540 | CELSR2 | c.5405G>C (p.Cys1802Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264569G= | CA1148425241 | CELSR2 | c.5405G= (p.Cys1802=)
| |
| 1 | g.109264569G>T | CA341502189 | CELSR2 | c.5405G>T (p.Cys1802Phe)
| |
| 1 | g.109264570T>A | CA341502190 | CELSR2 | c.5406T>A (p.Cys1802Ter)
| |
| 1 | g.109264570T>C | CA419678694 | CELSR2 | c.5406T>C (p.Cys1802=)
| |
| 1 | g.109264570T>G | CA341502192 | CELSR2 | c.5406T>G (p.Cys1802Trp)
| |
| 1 | g.109264573_109264574insATCCT | CA1005627762 | CELSR2 | c.5409_5410insATCCT (p.Ala1804IlefsTer?)
| dbSNP |
| 1 | g.109264571C>A | CA341502194 | CELSR2 | c.5407C>A (p.Pro1803Thr)
| |
| 1 | g.109264571C>G | CA341502196 | CELSR2 | c.5407C>G (p.Pro1803Ala)
| |
| 1 | g.109264571C>T | CA341502198 | CELSR2 | c.5407C>T (p.Pro1803Ser)
| |
| 1 | g.109264572C>A | CA341502201 | CELSR2 | c.5408C>A (p.Pro1803His)
| |
| 1 | g.109264572C>G | CA341502202 | CELSR2 | c.5408C>G (p.Pro1803Arg)
| |
| 1 | g.109264572C>T | CA341502203 | CELSR2 | c.5408C>T (p.Pro1803Leu)
| |
| 1 | g.109264573T>A | CA419678703 | CELSR2 | c.5409T>A (p.Pro1803=)
| |
| 1 | g.109264573T>C | CA419678700 | CELSR2 | c.5409T>C (p.Pro1803=)
| |
| 1 | g.109264573T>G | CA419678699 | CELSR2 | c.5409T>G (p.Pro1803=)
| gnomAD v4 |
| 1 | g.109264574G>A | CA987541 | CELSR2 | c.5410G>A (p.Ala1804Thr)
| ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.109264574G>C | CA341502209 | CELSR2 | c.5410G>C (p.Ala1804Pro)
| |
| 1 | g.109264574G= | CA1188035139 | CELSR2 | c.5410G= (p.Ala1804=)
| |
| 1 | g.109264574G>T | CA341502206 | CELSR2 | c.5410G>T (p.Ala1804Ser)
| |
| 1 | g.109264575C>A | CA341502211 | CELSR2 | c.5411C>A (p.Ala1804Asp)
| |
| 1 | g.109264575C>G | CA341502213 | CELSR2 | c.5411C>G (p.Ala1804Gly)
| |
| 1 | g.109264575C>T | CA341502215 | CELSR2 | c.5411C>T (p.Ala1804Val)
| |
| 1 | g.109264576T>A | CA419678710 | CELSR2 | c.5412T>A (p.Ala1804=)
| |
| 1 | g.109264576T>C | CA419678711 | CELSR2 | c.5412T>C (p.Ala1804=)
| |
| 1 | g.109264576T>G | CA419678713 | CELSR2 | c.5412T>G (p.Ala1804=)
| |
| 1 | g.109264577A= | CA1188035140 | CELSR2 | c.5413A= (p.Asn1805=)
| |
| 1 | g.109264577A>C | CA341502216 | CELSR2 | c.5413A>C (p.Asn1805His)
| gnomAD v4 |
| 1 | g.109264577A>G | CA341502222 | CELSR2 | c.5413A>G (p.Asn1805Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264577A>T | CA987542 | CELSR2 | c.5413A>T (p.Asn1805Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264578A>C | CA341502231 | CELSR2 | c.5414A>C (p.Asn1805Thr)
| |
| 1 | g.109264578A>G | CA341502227 | CELSR2 | c.5414A>G (p.Asn1805Ser)
| |
| 1 | g.109264578A>T | CA341502229 | CELSR2 | c.5414A>T (p.Asn1805Ile)
| |
| 1 | g.109264579C>A | CA341502233 | CELSR2 | c.5415C>A (p.Asn1805Lys)
| |
| 1 | g.109264579C>G | CA341502235 | CELSR2 | c.5415C>G (p.Asn1805Lys)
| |
| 1 | g.109264579C>T | CA419678722 | CELSR2 | c.5415C>T (p.Asn1805=)
| |
| 1 | g.109264580A>C | CA341502238 | CELSR2 | c.5416A>C (p.Ser1806Arg)
| |
| 1 | g.109264580A>G | CA341502240 | CELSR2 | c.5416A>G (p.Ser1806Gly)
| |
| 1 | g.109264580A>T | CA341502241 | CELSR2 | c.5416A>T (p.Ser1806Cys)
| |
| 1 | g.109264581G>A | CA987543 | CELSR2 | c.5417G>A (p.Ser1806Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264581G>C | CA341502243 | CELSR2 | c.5417G>C (p.Ser1806Thr)
| |
| 1 | g.109264581G= | CA1142353404 | CELSR2 | c.5417G= (p.Ser1806=)
| |
| 1 | g.109264581G>T | CA341502245 | CELSR2 | c.5417G>T (p.Ser1806Ile)
| |
| 1 | g.109264582C>A | CA341502247 | CELSR2 | c.5418C>A (p.Ser1806Arg)
| |
| 1 | g.109264582C= | CA1188035141 | CELSR2 | c.5418C= (p.Ser1806=)
| |
| 1 | g.109264582C>G | CA341502248 | CELSR2 | c.5418C>G (p.Ser1806Arg)
| dbSNP |
| 1 | g.109264582C>T | CA419678729 | CELSR2 | c.5418C>T (p.Ser1806=)
| |
| 1 | g.109264583T>A | CA341502250 | CELSR2 | c.5419T>A (p.Tyr1807Asn)
| |
| 1 | g.109264583T>C | CA341502252 | CELSR2 | c.5419T>C (p.Tyr1807His)
| |
| 1 | g.109264583T>G | CA341502253 | CELSR2 | c.5419T>G (p.Tyr1807Asp)
| |
