| 1 | g.109264212C>A | CA419678190 | CELSR2 | c.5136C>A (p.Pro1712=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264212C= | CA1140110162 | CELSR2 | c.5136C= (p.Pro1712=)
| |
| 1 | g.109264212C>G | CA419678191 | CELSR2 | c.5136C>G (p.Pro1712=)
| |
| 1 | g.109264212C>T | CA987445 | CELSR2 | c.5136C>T (p.Pro1712=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264213G>A | CA987446 | CELSR2 | c.5137G>A (p.Gly1713Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.109264213G>C | CA341501620 | CELSR2 | c.5137G>C (p.Gly1713Arg)
| |
| 1 | g.109264213G= | CA1188034978 | CELSR2 | c.5137G= (p.Gly1713=)
| |
| 1 | g.109264213G>T | CA341501621 | CELSR2 | c.5137G>T (p.Gly1713Cys)
| |
| 1 | g.109264214G>A | CA341501622 | CELSR2 | c.5138G>A (p.Gly1713Asp)
| |
| 1 | g.109264214G>C | CA341501623 | CELSR2 | c.5138G>C (p.Gly1713Ala)
| |
| 1 | g.109264214G>T | CA341501624 | CELSR2 | c.5138G>T (p.Gly1713Val)
| |
| 1 | g.109264219_109264223del | CA2646916017 | CELSR2 | c.5143_5147del (p.Ala1715SerfsTer?)
| gnomAD v4 |
| 1 | g.109264215C>A | CA419678194 | CELSR2 | c.5139C>A (p.Gly1713=)
| gnomAD v4 |
| 1 | g.109264215C>G | CA419678198 | CELSR2 | c.5139C>G (p.Gly1713=)
| gnomAD v4 |
| 1 | g.109264215C>T | CA419678196 | CELSR2 | c.5139C>T (p.Gly1713=)
| gnomAD v4 |
| 1 | g.109264216C>A | CA341501625 | CELSR2 | c.5140C>A (p.His1714Asn)
| |
| 1 | g.109264216C= | CA1188034979 | CELSR2 | c.5140C= (p.His1714=)
| |
| 1 | g.109264216C>G | CA341501626 | CELSR2 | c.5140C>G (p.His1714Asp)
| |
| 1 | g.109264216C>T | CA987447 | CELSR2 | c.5140C>T (p.His1714Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264217A= | CA1188034980 | CELSR2 | c.5141A= (p.His1714=)
| |
| 1 | g.109264217A>C | CA341501627 | CELSR2 | c.5141A>C (p.His1714Pro)
| |
| 1 | g.109264217A>G | CA341501628 | CELSR2 | c.5141A>G (p.His1714Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264217A>T | CA341501629 | CELSR2 | c.5141A>T (p.His1714Leu)
| |
| 1 | g.109264218T>A | CA341501630 | CELSR2 | c.5142T>A (p.His1714Gln)
| |
| 1 | g.109264218T>C | CA987448 | CELSR2 | c.5142T>C (p.His1714=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264218T>G | CA341501631 | CELSR2 | c.5142T>G (p.His1714Gln)
| |
| 1 | g.109264218T= | CA1188034981 | CELSR2 | c.5142T= (p.His1714=)
| |
| 1 | g.109264219G>A | CA341501632 | CELSR2 | c.5143G>A (p.Ala1715Thr)
| gnomAD v4 |
| 1 | g.109264219G>C | CA341501633 | CELSR2 | c.5143G>C (p.Ala1715Pro)
| |
| 1 | g.109264219G>T | CA341501634 | CELSR2 | c.5143G>T (p.Ala1715Ser)
| |
| 1 | g.109264220C>A | CA341501637 | CELSR2 | c.5144C>A (p.Ala1715Asp)
| gnomAD v4 |
| 1 | g.109264220C= | CA1188034982 | CELSR2 | c.5144C= (p.Ala1715=)
| |
| 1 | g.109264220C>G | CA341501636 | CELSR2 | c.5144C>G (p.Ala1715Gly)
| |
| 1 | g.109264220C>T | CA341501635 | CELSR2 | c.5144C>T (p.Ala1715Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264221C>A | CA419678208 | CELSR2 | c.5145C>A (p.Ala1715=)
| |
| 1 | g.109264221C>G | CA419678209 | CELSR2 | c.5145C>G (p.Ala1715=)
| |
| 1 | g.109264221C>T | CA419678210 | CELSR2 | c.5145C>T (p.Ala1715=)
| |
| 1 | g.109264222A= | CA1188034983 | CELSR2 | c.5146A= (p.Ile1716=)
| |
| 1 | g.109264222A>C | CA341501638 | CELSR2 | c.5146A>C (p.Ile1716Leu)
| |
| 1 | g.109264222A>G | CA341501639 | CELSR2 | c.5146A>G (p.Ile1716Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264222A>T | CA341501640 | CELSR2 | c.5146A>T (p.Ile1716Phe)
| |
| 1 | g.109264223T>A | CA341501641 | CELSR2 | c.5147T>A (p.Ile1716Asn)
| |
| 1 | g.109264223T>C | CA341501642 | CELSR2 | c.5147T>C (p.Ile1716Thr)
| |
| 1 | g.109264223T>G | CA341501643 | CELSR2 | c.5147T>G (p.Ile1716Ser)
| dbSNP |
| 1 | g.109264223T= | CA1188034984 | CELSR2 | c.5147T= (p.Ile1716=)
| |
| 1 | g.109264224T>A | CA419678217 | CELSR2 | c.5148T>A (p.Ile1716=)
| |
| 1 | g.109264224T>C | CA419678218 | CELSR2 | c.5148T>C (p.Ile1716=)
| gnomAD v4 |
| 1 | g.109264224T>G | CA341501644 | CELSR2 | c.5148T>G (p.Ile1716Met)
| |
| 1 | g.109264225C>A | CA341501645 | CELSR2 | c.5149C>A (p.Leu1717Met)
| |
| 1 | g.109264225C>G | CA341501646 | CELSR2 | c.5149C>G (p.Leu1717Val)
| |
| 1 | g.109264225C>T | CA419678220 | CELSR2 | c.5149C>T (p.Leu1717=)
| dbSNP gnomAD v4 |
| 1 | g.109264226T>A | CA341501647 | CELSR2 | c.5150T>A (p.Leu1717Gln)
| |
| 1 | g.109264226T>C | CA341501648 | CELSR2 | c.5150T>C (p.Leu1717Pro)
| |
| 1 | g.109264226T>G | CA341501649 | CELSR2 | c.5150T>G (p.Leu1717Arg)
| gnomAD v4 |
| 1 | g.109264227G>A | CA419678223 | CELSR2 | c.5151G>A (p.Leu1717=)
| |
| 1 | g.109264227G>C | CA987449 | CELSR2 | c.5151G>C (p.Leu1717=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264227G= | CA1188034985 | CELSR2 | c.5151G= (p.Leu1717=)
| |
| 1 | g.109264227G>T | CA419678224 | CELSR2 | c.5151G>T (p.Leu1717=)
| |
| 1 | g.109264228T>A | CA341501650 | CELSR2 | c.5152T>A (p.Ser1718Thr)
| |
| 1 | g.109264228T>C | CA341501652 | CELSR2 | c.5152T>C (p.Ser1718Pro)
| |
| 1 | g.109264228T>G | CA341501651 | CELSR2 | c.5152T>G (p.Ser1718Ala)
| |
| 1 | g.109264229C>A | CA341501653 | CELSR2 | c.5153C>A (p.Ser1718Tyr)
| |
| 1 | g.109264229C= | CA1188034986 | CELSR2 | c.5153C= (p.Ser1718=)
| |
| 1 | g.109264229C>G | CA987450 | CELSR2 | c.5153C>G (p.Ser1718Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264229C>T | CA341501654 | CELSR2 | c.5153C>T (p.Ser1718Phe)
| dbSNP gnomAD v4 |
| 1 | g.109264230C>A | CA419678234 | CELSR2 | c.5154C>A (p.Ser1718=)
| |
| 1 | g.109264230C= | CA1188034987 | CELSR2 | c.5154C= (p.Ser1718=)
| |
| 1 | g.109264230C>G | CA419678243 | CELSR2 | c.5154C>G (p.Ser1718=)
| |
| 1 | g.109264230C>T | CA419678244 | CELSR2 | c.5154C>T (p.Ser1718=)
| dbSNP |
| 1 | g.109264231T>A | CA341501655 | CELSR2 | c.5155T>A (p.Phe1719Ile)
| |
| 1 | g.109264231T>C | CA341501656 | CELSR2 | c.5155T>C (p.Phe1719Leu)
| |
| 1 | g.109264231T>G | CA341501657 | CELSR2 | c.5155T>G (p.Phe1719Val)
| |
| 1 | g.109264232T>A | CA341501658 | CELSR2 | c.5156T>A (p.Phe1719Tyr)
| |
| 1 | g.109264232T>C | CA341501659 | CELSR2 | c.5156T>C (p.Phe1719Ser)
| |
| 1 | g.109264232T>G | CA341501660 | CELSR2 | c.5156T>G (p.Phe1719Cys)
| |
| 1 | g.109264233C>A | CA341501661 | CELSR2 | c.5157C>A (p.Phe1719Leu)
| |
| 1 | g.109264233C= | CA1188034988 | CELSR2 | c.5157C= (p.Phe1719=)
| |
| 1 | g.109264233C>G | CA341501662 | CELSR2 | c.5157C>G (p.Phe1719Leu)
| COSMIC |
| 1 | g.109264233C>T | CA28632418 | CELSR2 | c.5157C>T (p.Phe1719=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264234G>A | CA987451 | CELSR2 | c.5158G>A (p.Asp1720Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.109264234G>C | CA341501664 | CELSR2 | c.5158G>C (p.Asp1720His)
| |
| 1 | g.109264234G= | CA1188034989 | CELSR2 | c.5158G= (p.Asp1720=)
| |
| 1 | g.109264234G>T | CA341501663 | CELSR2 | c.5158G>T (p.Asp1720Tyr)
| |
| 1 | g.109264235A>C | CA341501667 | CELSR2 | c.5159A>C (p.Asp1720Ala)
| |
| 1 | g.109264235A>G | CA341501665 | CELSR2 | c.5159A>G (p.Asp1720Gly)
| |
| 1 | g.109264235A>T | CA341501666 | CELSR2 | c.5159A>T (p.Asp1720Val)
| |
| 1 | g.109264235_109264276dup | CA2646916030 | CELSR2 | c.5159_5200dup (p.Arg1733_Leu1734insHisTyrGlyGlnGlnArgAlaGluGlyAsnLeuGlyProArg)
| gnomAD v4 |
| 1 | g.109264236T>A | CA341501668 | CELSR2 | c.5160T>A (p.Asp1720Glu)
| |
| 1 | g.109264236T>C | CA419678261 | CELSR2 | c.5160T>C (p.Asp1720=)
| |
| 1 | g.109264236T>G | CA341501669 | CELSR2 | c.5160T>G (p.Asp1720Glu)
| |
| 1 | g.109264237T>A | CA341501670 | CELSR2 | c.5161T>A (p.Tyr1721Asn)
| |
| 1 | g.109264237T>C | CA341501671 | CELSR2 | c.5161T>C (p.Tyr1721His)
| |
| 1 | g.109264237T>G | CA341501672 | CELSR2 | c.5161T>G (p.Tyr1721Asp)
| gnomAD v4 |
| 1 | g.109264238A= | CA1188034990 | CELSR2 | c.5162A= (p.Tyr1721=)
| |
| 1 | g.109264238A>C | CA341501673 | CELSR2 | c.5162A>C (p.Tyr1721Ser)
| |
| 1 | g.109264238A>G | CA341501674 | CELSR2 | c.5162A>G (p.Tyr1721Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264238A>T | CA341501675 | CELSR2 | c.5162A>T (p.Tyr1721Phe)
| |
| 1 | g.109264239T>A | CA341501676 | CELSR2 | c.5163T>A (p.Tyr1721Ter)
| |
| 1 | g.109264239T>C | CA987452 | CELSR2 | c.5163T>C (p.Tyr1721=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264239T>G | CA341501677 | CELSR2 | c.5163T>G (p.Tyr1721Ter)
| |
| 1 | g.109264239T= | CA1144968660 | CELSR2 | c.5163T= (p.Tyr1721=)
| |
| 1 | g.109264240G>A | CA341501678 | CELSR2 | c.5164G>A (p.Gly1722Arg)
| gnomAD v4 |
| 1 | g.109264240G>C | CA341501680 | CELSR2 | c.5164G>C (p.Gly1722Arg)
| |
| 1 | g.109264240G>T | CA341501679 | CELSR2 | c.5164G>T (p.Gly1722Trp)
| |
| 1 | g.109264241G>A | CA341501681 | CELSR2 | c.5165G>A (p.Gly1722Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264241G>C | CA341501682 | CELSR2 | c.5165G>C (p.Gly1722Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264241G= | CA1188034991 | CELSR2 | c.5165G= (p.Gly1722=)
| |
| 1 | g.109264241G>T | CA341501684 | CELSR2 | c.5165G>T (p.Gly1722Val)
| |
| 1 | g.109264242G>A | CA419678278 | CELSR2 | c.5166G>A (p.Gly1722=)
| |
| 1 | g.109264242G>C | CA419678282 | CELSR2 | c.5166G>C (p.Gly1722=)
| |
| 1 | g.109264242G>T | CA419678283 | CELSR2 | c.5166G>T (p.Gly1722=)
| |
| 1 | g.109264243C>A | CA341501685 | CELSR2 | c.5167C>A (p.Gln1723Lys)
| |
| 1 | g.109264243C>G | CA341501686 | CELSR2 | c.5167C>G (p.Gln1723Glu)
| |
| 1 | g.109264243C>T | CA341501687 | CELSR2 | c.5167C>T (p.Gln1723Ter)
| |
| 1 | g.109264244A>C | CA341501688 | CELSR2 | c.5168A>C (p.Gln1723Pro)
| |
| 1 | g.109264244A>G | CA341501689 | CELSR2 | c.5168A>G (p.Gln1723Arg)
| |
| 1 | g.109264244A>T | CA341501690 | CELSR2 | c.5168A>T (p.Gln1723Leu)
| |
| 1 | g.109264245G>A | CA419678287 | CELSR2 | c.5169G>A (p.Gln1723=)
| |
| 1 | g.109264245G>C | CA341501691 | CELSR2 | c.5169G>C (p.Gln1723His)
| |
| 1 | g.109264245G>T | CA341501692 | CELSR2 | c.5169G>T (p.Gln1723His)
| |
| 1 | g.109264246C>A | CA341501694 | CELSR2 | c.5170C>A (p.Gln1724Lys)
| |
| 1 | g.109264246C>G | CA341501695 | CELSR2 | c.5170C>G (p.Gln1724Glu)
| |
| 1 | g.109264246C>T | CA341501693 | CELSR2 | c.5170C>T (p.Gln1724Ter)
| |
| 1 | g.109264247A>C | CA341501696 | CELSR2 | c.5171A>C (p.Gln1724Pro)
| |
| 1 | g.109264247A>G | CA341501697 | CELSR2 | c.5171A>G (p.Gln1724Arg)
| gnomAD v4 |
| 1 | g.109264247A>T | CA341501698 | CELSR2 | c.5171A>T (p.Gln1724Leu)
| |
| 1 | g.109264248G>A | CA419678292 | CELSR2 | c.5172G>A (p.Gln1724=)
| |
| 1 | g.109264248G>C | CA341501699 | CELSR2 | c.5172G>C (p.Gln1724His)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264248G= | CA1188034992 | CELSR2 | c.5172G= (p.Gln1724=)
| |
| 1 | g.109264248G>T | CA341501700 | CELSR2 | c.5172G>T (p.Gln1724His)
| |
| 1 | g.109264249A>C | CA419678307 | CELSR2 | c.5173A>C (p.Arg1725=)
| |
| 1 | g.109264249A>G | CA341501701 | CELSR2 | c.5173A>G (p.Arg1725Gly)
| |
| 1 | g.109264249A>T | CA341501702 | CELSR2 | c.5173A>T (p.Arg1725Ter)
| |
| 1 | g.109264250G>A | CA341501703 | CELSR2 | c.5174G>A (p.Arg1725Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264250G>C | CA341501704 | CELSR2 | c.5174G>C (p.Arg1725Thr)
| |
| 1 | g.109264250G= | CA1188034993 | CELSR2 | c.5174G= (p.Arg1725=)
| |
| 1 | g.109264250G>T | CA341501705 | CELSR2 | c.5174G>T (p.Arg1725Ile)
| |
| 1 | g.109264251A>C | CA341501706 | CELSR2 | c.5175A>C (p.Arg1725Ser)
| |
| 1 | g.109264251A>G | CA419678309 | CELSR2 | c.5175A>G (p.Arg1725=)
| |
| 1 | g.109264251A>T | CA341501707 | CELSR2 | c.5175A>T (p.Arg1725Ser)
| |
| 1 | g.109264252G>A | CA341501708 | CELSR2 | c.5176G>A (p.Ala1726Thr)
| |
| 1 | g.109264252G>C | CA341501709 | CELSR2 | c.5176G>C (p.Ala1726Pro)
| |
| 1 | g.109264252G= | CA1141725940 | CELSR2 | c.5176G= (p.Ala1726=)
| |
| 1 | g.109264252G>T | CA987453 | CELSR2 | c.5176G>T (p.Ala1726Ser)
| dbSNP ExAC |
| 1 | g.109264253C>A | CA341501710 | CELSR2 | c.5177C>A (p.Ala1726Glu)
| |
| 1 | g.109264253C>G | CA341501711 | CELSR2 | c.5177C>G (p.Ala1726Gly)
| |
| 1 | g.109264253C>T | CA341501712 | CELSR2 | c.5177C>T (p.Ala1726Val)
| |
| 1 | g.109264254A>C | CA419678317 | CELSR2 | c.5178A>C (p.Ala1726=)
| |
| 1 | g.109264254A>G | CA419678321 | CELSR2 | c.5178A>G (p.Ala1726=)
| |
| 1 | g.109264254A>T | CA419678323 | CELSR2 | c.5178A>T (p.Ala1726=)
| |
| 1 | g.109264255G>A | CA341501713 | CELSR2 | c.5179G>A (p.Glu1727Lys)
| |
| 1 | g.109264255G>C | CA341501714 | CELSR2 | c.5179G>C (p.Glu1727Gln)
| |
| 1 | g.109264255G= | CA1188034994 | CELSR2 | c.5179G= (p.Glu1727=)
| |
| 1 | g.109264255G>T | CA987454 | CELSR2 | c.5179G>T (p.Glu1727Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.109264256A>C | CA341501717 | CELSR2 | c.5180A>C (p.Glu1727Ala)
| |
| 1 | g.109264256A>G | CA341501715 | CELSR2 | c.5180A>G (p.Glu1727Gly)
| |
| 1 | g.109264256A>T | CA341501716 | CELSR2 | c.5180A>T (p.Glu1727Val)
| |
| 1 | g.109264257G>A | CA419678333 | CELSR2 | c.5181G>A (p.Glu1727=)
| dbSNP |
| 1 | g.109264257G>C | CA341501718 | CELSR2 | c.5181G>C (p.Glu1727Asp)
| |
| 1 | g.109264257G= | CA1188034995 | CELSR2 | c.5181G= (p.Glu1727=)
| |
| 1 | g.109264257G>T | CA341501719 | CELSR2 | c.5181G>T (p.Glu1727Asp)
| |
| 1 | g.109264258G>A | CA341501720 | CELSR2 | c.5182G>A (p.Gly1728Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264258G>C | CA341501721 | CELSR2 | c.5182G>C (p.Gly1728Arg)
| |
| 1 | g.109264258G= | CA1188034996 | CELSR2 | c.5182G= (p.Gly1728=)
| |
| 1 | g.109264258G>T | CA341501722 | CELSR2 | c.5182G>T (p.Gly1728Cys)
| |
| 1 | g.109264259G>A | CA341501725 | CELSR2 | c.5183G>A (p.Gly1728Asp)
| |
| 1 | g.109264259G>C | CA341501724 | CELSR2 | c.5183G>C (p.Gly1728Ala)
| |
| 1 | g.109264259G>T | CA341501723 | CELSR2 | c.5183G>T (p.Gly1728Val)
| |
| 1 | g.109264260C>A | CA419678337 | CELSR2 | c.5184C>A (p.Gly1728=)
| |
| 1 | g.109264260C>G | CA419678338 | CELSR2 | c.5184C>G (p.Gly1728=)
| |
| 1 | g.109264260C>T | CA419678340 | CELSR2 | c.5184C>T (p.Gly1728=)
| gnomAD v4 |
| 1 | g.109264261A>C | CA341501726 | CELSR2 | c.5185A>C (p.Asn1729His)
| |
| 1 | g.109264261A>G | CA341501728 | CELSR2 | c.5185A>G (p.Asn1729Asp)
| |
| 1 | g.109264261A>T | CA341501727 | CELSR2 | c.5185A>T (p.Asn1729Tyr)
| |
| 1 | g.109264262A>C | CA341501729 | CELSR2 | c.5186A>C (p.Asn1729Thr)
| |
| 1 | g.109264262A>G | CA341501730 | CELSR2 | c.5186A>G (p.Asn1729Ser)
| |
| 1 | g.109264262A>T | CA341501731 | CELSR2 | c.5186A>T (p.Asn1729Ile)
| |
| 1 | g.109264263C>A | CA341501732 | CELSR2 | c.5187C>A (p.Asn1729Lys)
| |
| 1 | g.109264263C= | CA1188034997 | CELSR2 | c.5187C= (p.Asn1729=)
| |
| 1 | g.109264263C>G | CA341501733 | CELSR2 | c.5187C>G (p.Asn1729Lys)
| |
| 1 | g.109264263C>T | CA419678347 | CELSR2 | c.5187C>T (p.Asn1729=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264264C>A | CA341501734 | CELSR2 | c.5188C>A (p.Leu1730Met)
| |
| 1 | g.109264264C>G | CA341501735 | CELSR2 | c.5188C>G (p.Leu1730Val)
| gnomAD v4 |
| 1 | g.109264264C>T | CA419678351 | CELSR2 | c.5188C>T (p.Leu1730=)
| |
| 1 | g.109264265T>A | CA341501736 | CELSR2 | c.5189T>A (p.Leu1730Gln)
| |
| 1 | g.109264265T>C | CA341501737 | CELSR2 | c.5189T>C (p.Leu1730Pro)
| ClinVar gnomAD v4 |
| 1 | g.109264265T>G | CA341501738 | CELSR2 | c.5189T>G (p.Leu1730Arg)
| |
| 1 | g.109264266G>A | CA419678357 | CELSR2 | c.5190G>A (p.Leu1730=)
| |
| 1 | g.109264266G>C | CA419678364 | CELSR2 | c.5190G>C (p.Leu1730=)
| |
| 1 | g.109264266G>T | CA419678358 | CELSR2 | c.5190G>T (p.Leu1730=)
| |
| 1 | g.109264267G>A | CA341501739 | CELSR2 | c.5191G>A (p.Gly1731Ser)
| |
| 1 | g.109264267G>C | CA341501740 | CELSR2 | c.5191G>C (p.Gly1731Arg)
| |
| 1 | g.109264267G>T | CA341501741 | CELSR2 | c.5191G>T (p.Gly1731Cys)
| |
| 1 | g.109264268G>A | CA341501744 | CELSR2 | c.5192G>A (p.Gly1731Asp)
| gnomAD v4 |
| 1 | g.109264268G>C | CA341501743 | CELSR2 | c.5192G>C (p.Gly1731Ala)
| |
| 1 | g.109264268G>T | CA341501742 | CELSR2 | c.5192G>T (p.Gly1731Val)
| |
| 1 | g.109264269C>A | CA419678372 | CELSR2 | c.5193C>A (p.Gly1731=)
| |
| 1 | g.109264269C= | CA1188034998 | CELSR2 | c.5193C= (p.Gly1731=)
| |
| 1 | g.109264269C>G | CA419678374 | CELSR2 | c.5193C>G (p.Gly1731=)
| |
| 1 | g.109264269C>T | CA419678375 | CELSR2 | c.5193C>T (p.Gly1731=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.109264270C>A | CA341501745 | CELSR2 | c.5194C>A (p.Pro1732Thr)
| |
| 1 | g.109264270C= | CA1148896726 | CELSR2 | c.5194C= (p.Pro1732=)
| |
| 1 | g.109264270C>G | CA341501746 | CELSR2 | c.5194C>G (p.Pro1732Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.109264270C>T | CA987455 | CELSR2 | c.5194C>T (p.Pro1732Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264271C>A | CA341501747 | CELSR2 | c.5195C>A (p.Pro1732His)
| |
| 1 | g.109264271C>G | CA341501748 | CELSR2 | c.5195C>G (p.Pro1732Arg)
| |
| 1 | g.109264271C>T | CA341501749 | CELSR2 | c.5195C>T (p.Pro1732Leu)
| gnomAD v4 |
| 1 | g.109264272C>A | CA419678383 | CELSR2 | c.5196C>A (p.Pro1732=)
| |
| 1 | g.109264272C= | CA1188034999 | CELSR2 | c.5196C= (p.Pro1732=)
| |
| 1 | g.109264272C>G | CA419678386 | CELSR2 | c.5196C>G (p.Pro1732=)
| |
| 1 | g.109264272C>T | CA419678389 | CELSR2 | c.5196C>T (p.Pro1732=)
| dbSNP |
| 1 | g.109264273C>A | CA419678390 | CELSR2 | c.5197C>A (p.Arg1733=)
| |
| 1 | g.109264273C= | CA1188035000 | CELSR2 | c.5197C= (p.Arg1733=)
| |
| 1 | g.109264273C>G | CA341501750 | CELSR2 | c.5197C>G (p.Arg1733Gly)
| |
| 1 | g.109264273C>T | CA987456 | CELSR2 | c.5197C>T (p.Arg1733Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264274G>A | CA987457 | CELSR2 | c.5198G>A (p.Arg1733Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.109264274G>C | CA341501751 | CELSR2 | c.5198G>C (p.Arg1733Pro)
| |
| 1 | g.109264274G= | CA1142330564 | CELSR2 | c.5198G= (p.Arg1733=)
| |
| 1 | g.109264274G>T | CA341501752 | CELSR2 | c.5198G>T (p.Arg1733Leu)
| COSMIC |
| 1 | g.109264275G>A | CA419678393 | CELSR2 | c.5199G>A (p.Arg1733=)
| |
| 1 | g.109264275G>C | CA419678394 | CELSR2 | c.5199G>C (p.Arg1733=)
| |
| 1 | g.109264275G>T | CA419678397 | CELSR2 | c.5199G>T (p.Arg1733=)
| |
| 1 | g.109264276C>A | CA341501753 | CELSR2 | c.5200C>A (p.Leu1734Met)
| |
| 1 | g.109264276C= | CA1188035001 | CELSR2 | c.5200C= (p.Leu1734=)
| |
| 1 | g.109264276C>G | CA341501754 | CELSR2 | c.5200C>G (p.Leu1734Val)
| |
| 1 | g.109264276C>T | CA419678398 | CELSR2 | c.5200C>T (p.Leu1734=)
| dbSNP gnomAD v4 |
| 1 | g.109264277T>A | CA341501756 | CELSR2 | c.5201T>A (p.Leu1734Gln)
| |
| 1 | g.109264277T>C | CA341501757 | CELSR2 | c.5201T>C (p.Leu1734Pro)
| |
| 1 | g.109264277T>G | CA341501755 | CELSR2 | c.5201T>G (p.Leu1734Arg)
| |
| 1 | g.109264278G>A | CA419678405 | CELSR2 | c.5202G>A (p.Leu1734=)
| gnomAD v4 |
| 1 | g.109264278G>C | CA419678407 | CELSR2 | c.5202G>C (p.Leu1734=)
| |
| 1 | g.109264278G>T | CA419678406 | CELSR2 | c.5202G>T (p.Leu1734=)
| |
| 1 | g.109264279C>A | CA341501758 | CELSR2 | c.5203C>A (p.His1735Asn)
| |
| 1 | g.109264279C>G | CA341501759 | CELSR2 | c.5203C>G (p.His1735Asp)
| |
| 1 | g.109264279C>T | CA341501760 | CELSR2 | c.5203C>T (p.His1735Tyr)
| |
| 1 | g.109264280A= | CA1188035002 | CELSR2 | c.5204A= (p.His1735=)
| |
| 1 | g.109264280A>C | CA341501761 | CELSR2 | c.5204A>C (p.His1735Pro)
| |
| 1 | g.109264280A>G | CA341501762 | CELSR2 | c.5204A>G (p.His1735Arg)
| dbSNP |
| 1 | g.109264280A>T | CA341501763 | CELSR2 | c.5204A>T (p.His1735Leu)
| |
| 1 | g.109264281T>A | CA341501764 | CELSR2 | c.5205T>A (p.His1735Gln)
| |
| 1 | g.109264281T>C | CA419678411 | CELSR2 | c.5205T>C (p.His1735=)
| gnomAD v4 |
| 1 | g.109264281T>G | CA341501765 | CELSR2 | c.5205T>G (p.His1735Gln)
| |
| 1 | g.109264282G>A | CA341501766 | CELSR2 | c.5206G>A (p.Gly1736Ser)
| |
| 1 | g.109264282G>C | CA341501767 | CELSR2 | c.5206G>C (p.Gly1736Arg)
| |
| 1 | g.109264282G>T | CA341501768 | CELSR2 | c.5206G>T (p.Gly1736Cys)
| |
| 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)
| |
