Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806816_51806830delCA2739272037SCN8Ac.5330_5344del (p.Ala1777_Ser1781del)
c.3394_3408del
c.5207_5221del (p.Ala1736_Ser1740del)
c.5363_5377del (p.Ala1788_Ser1792del)
 ClinVar
12g.51806821C>ACA384885386SCN8Ac.5335C>A (p.Pro1779Thr)
c.3399C>A
c.5212C>A (p.Pro1738Thr)
c.5368C>A (p.Pro1790Thr)
12g.51806821C>GCA384885389SCN8Ac.5335C>G (p.Pro1779Ala)
c.3399C>G
c.5212C>G (p.Pro1738Ala)
c.5368C>G (p.Pro1790Ala)
12g.51806821C>TCA384885391SCN8Ac.5335C>T (p.Pro1779Ser)
c.3399C>T
c.5212C>T (p.Pro1738Ser)
c.5368C>T (p.Pro1790Ser)
 gnomAD v4
12g.51806822C>ACA384885396SCN8Ac.5336C>A (p.Pro1779His)
c.3400C>A
c.5213C>A (p.Pro1738His)
c.5369C>A (p.Pro1790His)
12g.51806822C=CA2036193841SCN8Ac.5336C= (p.Pro1779=)
c.3400C=
c.5213C= (p.Pro1738=)
c.5369C= (p.Pro1790=)
12g.51806822C>GCA384885399SCN8Ac.5336C>G (p.Pro1779Arg)
c.3400C>G
c.5213C>G (p.Pro1738Arg)
c.5369C>G (p.Pro1790Arg)
12g.51806822C>TCA384885394SCN8Ac.5336C>T (p.Pro1779Leu)
c.3400C>T
c.5213C>T (p.Pro1738Leu)
c.5369C>T (p.Pro1790Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.51806823T>ACA480062062SCN8Ac.5337T>A (p.Pro1779=)
c.3401T>A
c.5214T>A (p.Pro1738=)
c.5370T>A (p.Pro1790=)
12g.51806823T>CCA480062064SCN8Ac.5337T>C (p.Pro1779=)
c.3401T>C
c.5214T>C (p.Pro1738=)
c.5370T>C (p.Pro1790=)
12g.51806823T>GCA480062063SCN8Ac.5337T>G (p.Pro1779=)
c.3401T>G
c.5214T>G (p.Pro1738=)
c.5370T>G (p.Pro1790=)
12g.51806824C>ACA384885402SCN8Ac.5338C>A (p.Leu1780Met)
c.3402C>A
c.5215C>A (p.Leu1739Met)
c.5371C>A (p.Leu1791Met)
12g.51806824C>GCA384885404SCN8Ac.5338C>G (p.Leu1780Val)
c.3402C>G
c.5215C>G (p.Leu1739Val)
c.5371C>G (p.Leu1791Val)
12g.51806824C>TCA480062065SCN8Ac.5338C>T (p.Leu1780=)
c.3402C>T
c.5215C>T (p.Leu1739=)
c.5371C>T (p.Leu1791=)
12g.51806825T>ACA384885407SCN8Ac.5339T>A (p.Leu1780Gln)
c.3403T>A
c.5216T>A (p.Leu1739Gln)
c.5372T>A (p.Leu1791Gln)
12g.51806825T>CCA384885410SCN8Ac.5339T>C (p.Leu1780Pro)
c.3403T>C
c.5216T>C (p.Leu1739Pro)
c.5372T>C (p.Leu1791Pro)
12g.51806825T>GCA384885412SCN8Ac.5339T>G (p.Leu1780Arg)
c.3403T>G
c.5216T>G (p.Leu1739Arg)
c.5372T>G (p.Leu1791Arg)
12g.51806826G>ACA480062068SCN8Ac.5340G>A (p.Leu1780=)
c.3404G>A
c.5217G>A (p.Leu1739=)
c.5373G>A (p.Leu1791=)
 gnomAD v4
12g.51806826G>CCA480062069SCN8Ac.5340G>C (p.Leu1780=)
c.3404G>C
c.5217G>C (p.Leu1739=)
c.5373G>C (p.Leu1791=)
12g.51806826G>TCA480062070SCN8Ac.5340G>T (p.Leu1780=)
c.3404G>T
c.5217G>T (p.Leu1739=)
c.5373G>T (p.Leu1791=)
12g.51806827A>CCA384885416SCN8Ac.5341A>C (p.Ser1781Arg)
c.3405A>C
c.5218A>C (p.Ser1740Arg)
c.5374A>C (p.Ser1792Arg)
12g.51806827A>GCA384885417SCN8Ac.5341A>G (p.Ser1781Gly)
c.3405A>G
c.5218A>G (p.Ser1740Gly)
c.5374A>G (p.Ser1792Gly)
12g.51806827A>TCA384885420SCN8Ac.5341A>T (p.Ser1781Cys)
c.3405A>T
c.5218A>T (p.Ser1740Cys)
c.5374A>T (p.Ser1792Cys)
12g.51806828G>ACA384885422SCN8Ac.5342G>A (p.Ser1781Asn)
c.3406G>A
c.5219G>A (p.Ser1740Asn)
c.5375G>A (p.Ser1792Asn)
12g.51806828G>CCA384885425SCN8Ac.5342G>C (p.Ser1781Thr)
c.3406G>C
c.5219G>C (p.Ser1740Thr)
c.5375G>C (p.Ser1792Thr)
12g.51806828G>TCA384885427SCN8Ac.5342G>T (p.Ser1781Ile)
c.3406G>T
c.5219G>T (p.Ser1740Ile)
c.5375G>T (p.Ser1792Ile)
12g.51806829T>ACA384885431SCN8Ac.5343T>A (p.Ser1781Arg)
c.3407T>A
c.5220T>A (p.Ser1740Arg)
c.5376T>A (p.Ser1792Arg)
12g.51806829T>CCA6571910SCN8Ac.5343T>C (p.Ser1781=)
c.3407T>C
c.5220T>C (p.Ser1740=)
c.5376T>C (p.Ser1792=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806829T>GCA384885435SCN8Ac.5343T>G (p.Ser1781Arg)
c.3407T>G
c.5220T>G (p.Ser1740Arg)
c.5376T>G (p.Ser1792Arg)
12g.51806829T=CA2036193844SCN8Ac.5343T= (p.Ser1781=)
c.3407T=
c.5220T= (p.Ser1740=)
c.5376T= (p.Ser1792=)
12g.51806830G>ACA384885440SCN8Ac.5344G>A (p.Glu1782Lys)
c.3408G>A
c.5221G>A (p.Glu1741Lys)
c.5377G>A (p.Glu1793Lys)
12g.51806830G>CCA384885438SCN8Ac.5344G>C (p.Glu1782Gln)
c.3408G>C
c.5221G>C (p.Glu1741Gln)
c.5377G>C (p.Glu1793Gln)
12g.51806830G=CA2036193846SCN8Ac.5344G= (p.Glu1782=)
c.3408G=
c.5221G= (p.Glu1741=)
c.5377G= (p.Glu1793=)
12g.51806830G>TCA384885437SCN8Ac.5344G>T (p.Glu1782Ter)
c.3408G>T
c.5221G>T (p.Glu1741Ter)
c.5377G>T (p.Glu1793Ter)
 dbSNP
12g.51806831A>CCA384885443SCN8Ac.5345A>C (p.Glu1782Ala)
c.3409A>C
c.5222A>C (p.Glu1741Ala)
c.5378A>C (p.Glu1793Ala)
12g.51806831A>GCA384885445SCN8Ac.5345A>G (p.Glu1782Gly)
c.3409A>G
c.5222A>G (p.Glu1741Gly)
c.5378A>G (p.Glu1793Gly)
12g.51806831A>TCA384885447SCN8Ac.5345A>T (p.Glu1782Val)
c.3409A>T
c.5222A>T (p.Glu1741Val)
c.5378A>T (p.Glu1793Val)
12g.51806832G>ACA480062080SCN8Ac.5346G>A (p.Glu1782=)
c.3410G>A
c.5223G>A (p.Glu1741=)
c.5379G>A (p.Glu1793=)
 gnomAD v4
12g.51806832G>CCA384885449SCN8Ac.5346G>C (p.Glu1782Asp)
c.3410G>C
c.5223G>C (p.Glu1741Asp)
c.5379G>C (p.Glu1793Asp)
12g.51806832G>TCA384885451SCN8Ac.5346G>T (p.Glu1782Asp)
c.3410G>T
c.5223G>T (p.Glu1741Asp)
c.5379G>T (p.Glu1793Asp)
12g.51806833G>ACA384885452SCN8Ac.5347G>A (p.Asp1783Asn)
c.3411G>A
c.5224G>A (p.Asp1742Asn)
c.5380G>A (p.Asp1794Asn)
 gnomAD v4
12g.51806833G>CCA384885454SCN8Ac.5347G>C (p.Asp1783His)
c.3411G>C
c.5224G>C (p.Asp1742His)
c.5380G>C (p.Asp1794His)
12g.51806833G>TCA384885456SCN8Ac.5347G>T (p.Asp1783Tyr)
c.3411G>T
c.5224G>T (p.Asp1742Tyr)
c.5380G>T (p.Asp1794Tyr)
 gnomAD v4
12g.51806834A=CA2036193853SCN8Ac.5348A= (p.Asp1783=)
c.3412A=
c.5225A= (p.Asp1742=)
c.5381A= (p.Asp1794=)
12g.51806834A>CCA384885459SCN8Ac.5348A>C (p.Asp1783Ala)
c.3412A>C
c.5225A>C (p.Asp1742Ala)
c.5381A>C (p.Asp1794Ala)
12g.51806834A>GCA384885461SCN8Ac.5348A>G (p.Asp1783Gly)
c.3412A>G
c.5225A>G (p.Asp1742Gly)
c.5381A>G (p.Asp1794Gly)
12g.51806834A>TCA384885463SCN8Ac.5348A>T (p.Asp1783Val)
c.3412A>T
c.5225A>T (p.Asp1742Val)
c.5381A>T (p.Asp1794Val)
 ClinVar dbSNP
12g.51806835T>ACA384885466SCN8Ac.5349T>A (p.Asp1783Glu)
c.3413T>A
c.5226T>A (p.Asp1742Glu)
c.5382T>A (p.Asp1794Glu)
 gnomAD v4
12g.51806835T>CCA480062084SCN8Ac.5349T>C (p.Asp1783=)
c.3413T>C
c.5226T>C (p.Asp1742=)
c.5382T>C (p.Asp1794=)
12g.51806835T>GCA384885467SCN8Ac.5349T>G (p.Asp1783Glu)
c.3413T>G
c.5226T>G (p.Asp1742Glu)
c.5382T>G (p.Asp1794Glu)
12g.51806836G>ACA384885475SCN8Ac.5350G>A (p.Asp1784Asn)
c.3414G>A
c.5227G>A (p.Asp1743Asn)
c.5383G>A (p.Asp1795Asn)
12g.51806836G>CCA384885472SCN8Ac.5350G>C (p.Asp1784His)
c.3414G>C
c.5227G>C (p.Asp1743His)
c.5383G>C (p.Asp1795His)
12g.51806836G>TCA384885470SCN8Ac.5350G>T (p.Asp1784Tyr)
c.3414G>T
c.5227G>T (p.Asp1743Tyr)
c.5383G>T (p.Asp1795Tyr)
12g.51806837A>CCA384885480SCN8Ac.5351A>C (p.Asp1784Ala)
c.3415A>C
c.5228A>C (p.Asp1743Ala)
c.5384A>C (p.Asp1795Ala)
12g.51806837A>GCA384885478SCN8Ac.5351A>G (p.Asp1784Gly)
c.3415A>G
c.5228A>G (p.Asp1743Gly)
c.5384A>G (p.Asp1795Gly)
12g.51806837A>TCA384885479SCN8Ac.5351A>T (p.Asp1784Val)
c.3415A>T
c.5228A>T (p.Asp1743Val)
c.5384A>T (p.Asp1795Val)
12g.51806838C>ACA384885484SCN8Ac.5352C>A (p.Asp1784Glu)
c.3416C>A
c.5229C>A (p.Asp1743Glu)
c.5385C>A (p.Asp1795Glu)
12g.51806838C>GCA384885485SCN8Ac.5352C>G (p.Asp1784Glu)
c.3416C>G
c.5229C>G (p.Asp1743Glu)
c.5385C>G (p.Asp1795Glu)
12g.51806838C>TCA480062096SCN8Ac.5352C>T (p.Asp1784=)
c.3416C>T
c.5229C>T (p.Asp1743=)
c.5385C>T (p.Asp1795=)
12g.51806839T>ACA384885488SCN8Ac.5353T>A (p.Phe1785Ile)
c.3417T>A
c.5230T>A (p.Phe1744Ile)
c.5386T>A (p.Phe1796Ile)
12g.51806839T>CCA384885490SCN8Ac.5353T>C (p.Phe1785Leu)
c.3417T>C
c.5230T>C (p.Phe1744Leu)
c.5386T>C (p.Phe1796Leu)
12g.51806839T>GCA384885492SCN8Ac.5353T>G (p.Phe1785Val)
c.3417T>G
c.5230T>G (p.Phe1744Val)
c.5386T>G (p.Phe1796Val)
 COSMIC COSMIC
12g.51806840T>ACA384885496SCN8Ac.5354T>A (p.Phe1785Tyr)
c.3418T>A
c.5231T>A (p.Phe1744Tyr)
c.5387T>A (p.Phe1796Tyr)
12g.51806840T>CCA384885497SCN8Ac.5354T>C (p.Phe1785Ser)
c.3418T>C
c.5231T>C (p.Phe1744Ser)
c.5387T>C (p.Phe1796Ser)
12g.51806840T>GCA384885501SCN8Ac.5354T>G (p.Phe1785Cys)
c.3418T>G
c.5231T>G (p.Phe1744Cys)
c.5387T>G (p.Phe1796Cys)
12g.51806841T>ACA384885504SCN8Ac.5355T>A (p.Phe1785Leu)
c.3419T>A
c.5232T>A (p.Phe1744Leu)
c.5388T>A (p.Phe1796Leu)
12g.51806841T>CCA480062103SCN8Ac.5355T>C (p.Phe1785=)
c.3419T>C
c.5232T>C (p.Phe1744=)
c.5388T>C (p.Phe1796=)
12g.51806841T>GCA384885506SCN8Ac.5355T>G (p.Phe1785Leu)
c.3419T>G
c.5232T>G (p.Phe1744Leu)
c.5388T>G (p.Phe1796Leu)
 gnomAD v4
12g.51806842G>ACA384885511SCN8Ac.5356G>A (p.Glu1786Lys)
c.3420G>A
c.5233G>A (p.Glu1745Lys)
c.5389G>A (p.Glu1797Lys)
12g.51806842G>CCA384885514SCN8Ac.5356G>C (p.Glu1786Gln)
c.3420G>C
c.5233G>C (p.Glu1745Gln)
c.5389G>C (p.Glu1797Gln)
12g.51806842G>TCA384885509SCN8Ac.5356G>T (p.Glu1786Ter)
c.3420G>T
c.5233G>T (p.Glu1745Ter)
c.5389G>T (p.Glu1797Ter)
12g.51806843A>CCA384885517SCN8Ac.5357A>C (p.Glu1786Ala)
c.3421A>C
c.5234A>C (p.Glu1745Ala)
c.5390A>C (p.Glu1797Ala)
12g.51806843A>GCA384885519SCN8Ac.5357A>G (p.Glu1786Gly)
c.3421A>G
c.5234A>G (p.Glu1745Gly)
c.5390A>G (p.Glu1797Gly)
12g.51806843A>TCA384885522SCN8Ac.5357A>T (p.Glu1786Val)
c.3421A>T
c.5234A>T (p.Glu1745Val)
c.5390A>T (p.Glu1797Val)
12g.51806844G>ACA480062107SCN8Ac.5358G>A (p.Glu1786=)
c.3422G>A
c.5235G>A (p.Glu1745=)
c.5391G>A (p.Glu1797=)
12g.51806844G>CCA384885524SCN8Ac.5358G>C (p.Glu1786Asp)
c.3422G>C
c.5235G>C (p.Glu1745Asp)
c.5391G>C (p.Glu1797Asp)
12g.51806844G>TCA384885526SCN8Ac.5358G>T (p.Glu1786Asp)
c.3422G>T
c.5235G>T (p.Glu1745Asp)
c.5391G>T (p.Glu1797Asp)
12g.51806845A>CCA384885532SCN8Ac.5359A>C (p.Thr1787Pro)
c.3423A>C
c.5236A>C (p.Thr1746Pro)
c.5392A>C (p.Thr1798Pro)
 ClinVar
12g.51806845A>GCA384885528SCN8Ac.5359A>G (p.Thr1787Ala)
c.3423A>G
c.5236A>G (p.Thr1746Ala)
c.5392A>G (p.Thr1798Ala)
12g.51806845A>TCA384885530SCN8Ac.5359A>T (p.Thr1787Ser)
c.3423A>T
c.5236A>T (p.Thr1746Ser)
c.5392A>T (p.Thr1798Ser)
12g.51806846C>ACA384885535SCN8Ac.5360C>A (p.Thr1787Asn)
c.3424C>A
c.5237C>A (p.Thr1746Asn)
c.5393C>A (p.Thr1798Asn)
 ClinVar dbSNP
12g.51806846C=CA2036193862SCN8Ac.5360C= (p.Thr1787=)
c.3424C=
c.5237C= (p.Thr1746=)
c.5393C= (p.Thr1798=)
12g.51806846C>GCA384885537SCN8Ac.5360C>G (p.Thr1787Ser)
c.3424C>G
c.5237C>G (p.Thr1746Ser)
c.5393C>G (p.Thr1798Ser)
12g.51806846C>TCA384885538SCN8Ac.5360C>T (p.Thr1787Ile)
c.3424C>T
c.5237C>T (p.Thr1746Ile)
c.5393C>T (p.Thr1798Ile)
12g.51806847C>ACA480062119SCN8Ac.5361C>A (p.Thr1787=)
c.3425C>A
c.5238C>A (p.Thr1746=)
c.5394C>A (p.Thr1798=)
 gnomAD v4
12g.51806847C>GCA480062120SCN8Ac.5361C>G (p.Thr1787=)
c.3425C>G
c.5238C>G (p.Thr1746=)
c.5394C>G (p.Thr1798=)
12g.51806847C>TCA480062122SCN8Ac.5361C>T (p.Thr1787=)
c.3425C>T
c.5238C>T (p.Thr1746=)
c.5394C>T (p.Thr1798=)
 COSMIC COSMIC
12g.51806848T>ACA384885542SCN8Ac.5362T>A (p.Phe1788Ile)
c.3426T>A
c.5239T>A (p.Phe1747Ile)
c.5395T>A (p.Phe1799Ile)
12g.51806848T>CCA384885543SCN8Ac.5362T>C (p.Phe1788Leu)
c.3426T>C
c.5239T>C (p.Phe1747Leu)
c.5395T>C (p.Phe1799Leu)
12g.51806848T>GCA384885545SCN8Ac.5362T>G (p.Phe1788Val)
c.3426T>G
c.5239T>G (p.Phe1747Val)
c.5395T>G (p.Phe1799Val)
 ClinVar
12g.51806849T>ACA384885551SCN8Ac.5363T>A (p.Phe1788Tyr)
c.3427T>A
c.5240T>A (p.Phe1747Tyr)
c.5396T>A (p.Phe1799Tyr)
12g.51806849T>CCA384885553SCN8Ac.5363T>C (p.Phe1788Ser)
c.3427T>C
c.5240T>C (p.Phe1747Ser)
c.5396T>C (p.Phe1799Ser)
12g.51806849T>GCA384885548SCN8Ac.5363T>G (p.Phe1788Cys)
c.3427T>G
c.5240T>G (p.Phe1747Cys)
c.5396T>G (p.Phe1799Cys)
 gnomAD v4
12g.51806850C>ACA384885555SCN8Ac.5364C>A (p.Phe1788Leu)
c.3428C>A
c.5241C>A (p.Phe1747Leu)
c.5397C>A (p.Phe1799Leu)
12g.51806850C>GCA384885556SCN8Ac.5364C>G (p.Phe1788Leu)
c.3428C>G
c.5241C>G (p.Phe1747Leu)
c.5397C>G (p.Phe1799Leu)
12g.51806850C>TCA480062132SCN8Ac.5364C>T (p.Phe1788=)
c.3428C>T
c.5241C>T (p.Phe1747=)
c.5397C>T (p.Phe1799=)
12g.51806851T>ACA384885559SCN8Ac.5365T>A (p.Tyr1789Asn)
c.3429T>A
c.5242T>A (p.Tyr1748Asn)
c.5398T>A (p.Tyr1800Asn)
12g.51806851T>CCA384885561SCN8Ac.5365T>C (p.Tyr1789His)
c.3429T>C
c.5242T>C (p.Tyr1748His)
c.5398T>C (p.Tyr1800His)
12g.51806851T>GCA384885563SCN8Ac.5365T>G (p.Tyr1789Asp)
c.3429T>G
c.5242T>G (p.Tyr1748Asp)
c.5398T>G (p.Tyr1800Asp)
12g.51806852A=CA2036193866SCN8Ac.5366A= (p.Tyr1789=)
c.3430A=
c.5243A= (p.Tyr1748=)
c.5399A= (p.Tyr1800=)
12g.51806852A>CCA384885566SCN8Ac.5366A>C (p.Tyr1789Ser)
c.3430A>C
c.5243A>C (p.Tyr1748Ser)
c.5399A>C (p.Tyr1800Ser)
12g.51806852A>GCA236327597SCN8Ac.5366A>G (p.Tyr1789Cys)
c.3430A>G
c.5243A>G (p.Tyr1748Cys)
c.5399A>G (p.Tyr1800Cys)
 ClinVar dbSNP gnomAD v4
12g.51806852A>TCA384885569SCN8Ac.5366A>T (p.Tyr1789Phe)
c.3430A>T
c.5243A>T (p.Tyr1748Phe)
c.5399A>T (p.Tyr1800Phe)
12g.51806853T>ACA384885573SCN8Ac.5367T>A (p.Tyr1789Ter)
c.3431T>A
c.5244T>A (p.Tyr1748Ter)
c.5400T>A (p.Tyr1800Ter)
12g.51806853T>CCA480062149SCN8Ac.5367T>C (p.Tyr1789=)
c.3431T>C
c.5244T>C (p.Tyr1748=)
c.5400T>C (p.Tyr1800=)
12g.51806853T>GCA384885575SCN8Ac.5367T>G (p.Tyr1789Ter)
c.3431T>G
c.5244T>G (p.Tyr1748Ter)
c.5400T>G (p.Tyr1800Ter)
 dbSNP gnomAD v3 gnomAD v4
12g.51806854G>ACA384885579SCN8Ac.5368G>A (p.Glu1790Lys)
c.3432G>A
c.5245G>A (p.Glu1749Lys)
c.5401G>A (p.Glu1801Lys)
 gnomAD v4
12g.51806854G>CCA384885581SCN8Ac.5368G>C (p.Glu1790Gln)
c.3432G>C
c.5245G>C (p.Glu1749Gln)
c.5401G>C (p.Glu1801Gln)
12g.51806854G=CA2036193871SCN8Ac.5368G= (p.Glu1790=)
c.3432G=
c.5245G= (p.Glu1749=)
c.5401G= (p.Glu1801=)
12g.51806854G>TCA384885583SCN8Ac.5368G>T (p.Glu1790Ter)
c.3432G>T
c.5245G>T (p.Glu1749Ter)
c.5401G>T (p.Glu1801Ter)
 dbSNP
12g.51806855A>CCA384885588SCN8Ac.5369A>C (p.Glu1790Ala)
c.3433A>C
c.5246A>C (p.Glu1749Ala)
c.5402A>C (p.Glu1801Ala)
12g.51806855A>GCA384885587SCN8Ac.5369A>G (p.Glu1790Gly)
c.3433A>G
c.5246A>G (p.Glu1749Gly)
c.5402A>G (p.Glu1801Gly)
12g.51806855A>TCA384885585SCN8Ac.5369A>T (p.Glu1790Val)
c.3433A>T
c.5246A>T (p.Glu1749Val)
c.5402A>T (p.Glu1801Val)
12g.51806856G>ACA480062160SCN8Ac.5370G>A (p.Glu1790=)
c.3434G>A
c.5247G>A (p.Glu1749=)
c.5403G>A (p.Glu1801=)
 gnomAD v4
12g.51806856G>CCA384885592SCN8Ac.5370G>C (p.Glu1790Asp)
c.3434G>C
c.5247G>C (p.Glu1749Asp)
c.5403G>C (p.Glu1801Asp)
12g.51806856G>TCA384885593SCN8Ac.5370G>T (p.Glu1790Asp)
c.3434G>T
c.5247G>T (p.Glu1749Asp)
c.5403G>T (p.Glu1801Asp)
12g.51806857A=CA2036193875SCN8Ac.5371A= (p.Ile1791=)
c.3435A=
c.5248A= (p.Ile1750=)
c.5404A= (p.Ile1802=)
12g.51806857A>CCA6571911SCN8Ac.5371A>C (p.Ile1791Leu)
c.3435A>C
c.5248A>C (p.Ile1750Leu)
c.5404A>C (p.Ile1802Leu)
 dbSNP ExAC gnomAD v2
12g.51806857A>GCA384885598SCN8Ac.5371A>G (p.Ile1791Val)
c.3435A>G
c.5248A>G (p.Ile1750Val)
c.5404A>G (p.Ile1802Val)
12g.51806857A>TCA384885600SCN8Ac.5371A>T (p.Ile1791Phe)
c.3435A>T
c.5248A>T (p.Ile1750Phe)
c.5404A>T (p.Ile1802Phe)
12g.51806858T>ACA384885605SCN8Ac.5372T>A (p.Ile1791Asn)
c.3436T>A
c.5249T>A (p.Ile1750Asn)
c.5405T>A (p.Ile1802Asn)
12g.51806858T>CCA384885607SCN8Ac.5372T>C (p.Ile1791Thr)
c.3436T>C
c.5249T>C (p.Ile1750Thr)
c.5405T>C (p.Ile1802Thr)
 dbSNP
12g.51806858T>GCA384885617SCN8Ac.5372T>G (p.Ile1791Ser)
c.3436T>G
c.5249T>G (p.Ile1750Ser)
c.5405T>G (p.Ile1802Ser)
12g.51806858T=CA2036193878SCN8Ac.5372T= (p.Ile1791=)
c.3436T=
c.5249T= (p.Ile1750=)
c.5405T= (p.Ile1802=)
12g.51806859C>ACA480062165SCN8Ac.5373C>A (p.Ile1791=)
c.3437C>A
c.5250C>A (p.Ile1750=)
c.5406C>A (p.Ile1802=)
12g.51806859C>GCA384885620SCN8Ac.5373C>G (p.Ile1791Met)
c.3437C>G
c.5250C>G (p.Ile1750Met)
c.5406C>G (p.Ile1802Met)
12g.51806859C>TCA480062169SCN8Ac.5373C>T (p.Ile1791=)
c.3437C>T
c.5250C>T (p.Ile1750=)
c.5406C>T (p.Ile1802=)
12g.51806860T>ACA384885626SCN8Ac.5374T>A (p.Trp1792Arg)
c.3438T>A
c.5251T>A (p.Trp1751Arg)
c.5407T>A (p.Trp1803Arg)
12g.51806860T>CCA384885629SCN8Ac.5374T>C (p.Trp1792Arg)
c.3438T>C
c.5251T>C (p.Trp1751Arg)
c.5407T>C (p.Trp1803Arg)
12g.51806860T>GCA384885632SCN8Ac.5374T>G (p.Trp1792Gly)
c.3438T>G
c.5251T>G (p.Trp1751Gly)
c.5407T>G (p.Trp1803Gly)
12g.51806861G>ACA384885638SCN8Ac.5375G>A (p.Trp1792Ter)
c.3439G>A
c.5252G>A (p.Trp1751Ter)
c.5408G>A (p.Trp1803Ter)
 ClinVar dbSNP
12g.51806861G>CCA384885642SCN8Ac.5375G>C (p.Trp1792Ser)
c.3439G>C
c.5252G>C (p.Trp1751Ser)
c.5408G>C (p.Trp1803Ser)
12g.51806861G=CA2036193885SCN8Ac.5375G= (p.Trp1792=)
c.3439G=
c.5252G= (p.Trp1751=)
c.5408G= (p.Trp1803=)
12g.51806861G>TCA384885636SCN8Ac.5375G>T (p.Trp1792Leu)
c.3439G>T
c.5252G>T (p.Trp1751Leu)
c.5408G>T (p.Trp1803Leu)
12g.51806862G>ACA384885647SCN8Ac.5376G>A (p.Trp1792Ter)
c.3440G>A
c.5253G>A (p.Trp1751Ter)
c.5409G>A (p.Trp1803Ter)
 dbSNP
12g.51806862G>CCA384885651SCN8Ac.5376G>C (p.Trp1792Cys)
c.3440G>C
c.5253G>C (p.Trp1751Cys)
c.5409G>C (p.Trp1803Cys)
12g.51806862G=CA2036193888SCN8Ac.5376G= (p.Trp1792=)
c.3440G=
c.5253G= (p.Trp1751=)
c.5409G= (p.Trp1803=)
12g.51806862G>TCA384885654SCN8Ac.5376G>T (p.Trp1792Cys)
c.3440G>T
c.5253G>T (p.Trp1751Cys)
c.5409G>T (p.Trp1803Cys)
12g.51806863G>ACA384885658SCN8Ac.5377G>A (p.Glu1793Lys)
c.3441G>A
c.5254G>A (p.Glu1752Lys)
c.5410G>A (p.Glu1804Lys)
 COSMIC COSMIC
12g.51806863G>CCA384885659SCN8Ac.5377G>C (p.Glu1793Gln)
c.3441G>C
c.5254G>C (p.Glu1752Gln)
c.5410G>C (p.Glu1804Gln)
12g.51806863G=CA2036193897SCN8Ac.5377G= (p.Glu1793=)
c.3441G=
c.5254G= (p.Glu1752=)
c.5410G= (p.Glu1804=)
12g.51806863G>TCA384885663SCN8Ac.5377G>T (p.Glu1793Ter)
c.3441G>T
c.5254G>T (p.Glu1752Ter)
c.5410G>T (p.Glu1804Ter)
 dbSNP
12g.51806864A>CCA384885674SCN8Ac.5378A>C (p.Glu1793Ala)
c.3442A>C
c.5255A>C (p.Glu1752Ala)
c.5411A>C (p.Glu1804Ala)
12g.51806864A>GCA384885670SCN8Ac.5378A>G (p.Glu1793Gly)
c.3442A>G
c.5255A>G (p.Glu1752Gly)
c.5411A>G (p.Glu1804Gly)
12g.51806864A>TCA384885672SCN8Ac.5378A>T (p.Glu1793Val)
c.3442A>T
c.5255A>T (p.Glu1752Val)
c.5411A>T (p.Glu1804Val)
12g.51806865G>ACA480062192SCN8Ac.5379G>A (p.Glu1793=)
c.3443G>A
c.5256G>A (p.Glu1752=)
c.5412G>A (p.Glu1804=)
12g.51806865G>CCA384885677SCN8Ac.5379G>C (p.Glu1793Asp)
c.3443G>C
c.5256G>C (p.Glu1752Asp)
c.5412G>C (p.Glu1804Asp)
12g.51806865G>TCA384885679SCN8Ac.5379G>T (p.Glu1793Asp)
c.3443G>T
c.5256G>T (p.Glu1752Asp)
c.5412G>T (p.Glu1804Asp)
12g.51806866A=CA2036193905SCN8Ac.5380A= (p.Lys1794=)
c.3444A=
c.5257A= (p.Lys1753=)
c.5413A= (p.Lys1805=)
12g.51806866A>CCA384885686SCN8Ac.5380A>C (p.Lys1794Gln)
c.3444A>C
c.5257A>C (p.Lys1753Gln)
c.5413A>C (p.Lys1805Gln)
12g.51806866A>GCA384885687SCN8Ac.5380A>G (p.Lys1794Glu)
c.3444A>G
c.5257A>G (p.Lys1753Glu)
c.5413A>G (p.Lys1805Glu)
12g.51806866A>TCA384885697SCN8Ac.5380A>T (p.Lys1794Ter)
c.3444A>T
c.5257A>T (p.Lys1753Ter)
c.5413A>T (p.Lys1805Ter)
 dbSNP
12g.51806867A>CCA384885701SCN8Ac.5381A>C (p.Lys1794Thr)
c.3445A>C
c.5258A>C (p.Lys1753Thr)
c.5414A>C (p.Lys1805Thr)
12g.51806867A>GCA384885709SCN8Ac.5381A>G (p.Lys1794Arg)
c.3445A>G
c.5258A>G (p.Lys1753Arg)
c.5414A>G (p.Lys1805Arg)
12g.51806867A>TCA384885706SCN8Ac.5381A>T (p.Lys1794Met)
c.3445A>T
c.5258A>T (p.Lys1753Met)
c.5414A>T (p.Lys1805Met)
 gnomAD v4
12g.51806868G>ACA6571912SCN8Ac.5382G>A (p.Lys1794=)
c.3446G>A
c.5259G>A (p.Lys1753=)
c.5415G>A (p.Lys1805=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806868G>CCA384885719SCN8Ac.5382G>C (p.Lys1794Asn)
c.3446G>C
c.5259G>C (p.Lys1753Asn)
c.5415G>C (p.Lys1805Asn)
12g.51806868G=CA2036193915SCN8Ac.5382G= (p.Lys1794=)
c.3446G=
c.5259G= (p.Lys1753=)
c.5415G= (p.Lys1805=)
12g.51806868G>TCA384885721SCN8Ac.5382G>T (p.Lys1794Asn)
c.3446G>T
c.5259G>T (p.Lys1753Asn)
c.5415G>T (p.Lys1805Asn)
12g.51806869T>ACA384885725SCN8Ac.5383T>A (p.Phe1795Ile)
c.3447T>A
c.5260T>A (p.Phe1754Ile)
c.5416T>A (p.Phe1806Ile)
12g.51806869T>CCA384885728SCN8Ac.5383T>C (p.Phe1795Leu)
c.3447T>C
c.5260T>C (p.Phe1754Leu)
c.5416T>C (p.Phe1806Leu)
12g.51806869T>GCA384885730SCN8Ac.5383T>G (p.Phe1795Val)
c.3447T>G
c.5260T>G (p.Phe1754Val)
c.5416T>G (p.Phe1806Val)
12g.51806870T>ACA384885736SCN8Ac.5384T>A (p.Phe1795Tyr)
c.3448T>A
c.5261T>A (p.Phe1754Tyr)
c.5417T>A (p.Phe1806Tyr)
12g.51806870T>CCA384885740SCN8Ac.5384T>C (p.Phe1795Ser)
c.3448T>C
c.5261T>C (p.Phe1754Ser)
c.5417T>C (p.Phe1806Ser)
12g.51806870T>GCA384885743SCN8Ac.5384T>G (p.Phe1795Cys)
c.3448T>G
c.5261T>G (p.Phe1754Cys)
c.5417T>G (p.Phe1806Cys)
12g.51806871C>ACA384885746SCN8Ac.5385C>A (p.Phe1795Leu)
c.3449C>A
c.5262C>A (p.Phe1754Leu)
c.5418C>A (p.Phe1806Leu)
 ClinVar dbSNP
12g.51806871C=CA2036193930SCN8Ac.5385C= (p.Phe1795=)
c.3449C=
c.5262C= (p.Phe1754=)
c.5418C= (p.Phe1806=)
12g.51806871C>GCA384885756SCN8Ac.5385C>G (p.Phe1795Leu)
c.3449C>G
c.5262C>G (p.Phe1754Leu)
c.5418C>G (p.Phe1806Leu)
12g.51806871C>TCA6571913SCN8Ac.5385C>T (p.Phe1795=)
c.3449C>T
c.5262C>T (p.Phe1754=)
c.5418C>T (p.Phe1806=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51806872G>ACA384885774SCN8Ac.5386G>A (p.Asp1796Asn)
c.3450G>A
c.5263G>A (p.Asp1755Asn)
c.5419G>A (p.Asp1807Asn)
 ClinVar gnomAD v4
12g.51806872G>CCA384885766SCN8Ac.5386G>C (p.Asp1796His)
c.3450G>C
c.5263G>C (p.Asp1755His)
c.5419G>C (p.Asp1807His)
12g.51806872G>TCA384885771SCN8Ac.5386G>T (p.Asp1796Tyr)
c.3450G>T
c.5263G>T (p.Asp1755Tyr)
c.5419G>T (p.Asp1807Tyr)
12g.51806873A>CCA384885778SCN8Ac.5387A>C (p.Asp1796Ala)
c.3451A>C
c.5264A>C (p.Asp1755Ala)
c.5420A>C (p.Asp1807Ala)
12g.51806873A>GCA384885788SCN8Ac.5387A>G (p.Asp1796Gly)
c.3451A>G
c.5264A>G (p.Asp1755Gly)
c.5420A>G (p.Asp1807Gly)
12g.51806873A>TCA384885787SCN8Ac.5387A>T (p.Asp1796Val)
c.3451A>T
c.5264A>T (p.Asp1755Val)
c.5420A>T (p.Asp1807Val)
12g.51806874C>ACA384885790SCN8Ac.5388C>A (p.Asp1796Glu)
c.3452C>A
c.5265C>A (p.Asp1755Glu)
c.5421C>A (p.Asp1807Glu)
12g.51806874C>GCA384885791SCN8Ac.5388C>G (p.Asp1796Glu)
c.3452C>G
c.5265C>G (p.Asp1755Glu)
c.5421C>G (p.Asp1807Glu)
12g.51806874C>TCA480062209SCN8Ac.5388C>T (p.Asp1796=)
c.3452C>T
c.5265C>T (p.Asp1755=)
c.5421C>T (p.Asp1807=)
 gnomAD v4
12g.51806875C>ACA384885798SCN8Ac.5389C>A (p.Pro1797Thr)
c.3453C>A
c.5266C>A (p.Pro1756Thr)
c.5422C>A (p.Pro1808Thr)
12g.51806875C=CA2036193941SCN8Ac.5389C= (p.Pro1797=)
c.3453C=
c.5266C= (p.Pro1756=)
c.5422C= (p.Pro1808=)
12g.51806875C>GCA384885801SCN8Ac.5389C>G (p.Pro1797Ala)
c.3453C>G
c.5266C>G (p.Pro1756Ala)
c.5422C>G (p.Pro1808Ala)
12g.51806875C>TCA6571914SCN8Ac.5389C>T (p.Pro1797Ser)
c.3453C>T
c.5266C>T (p.Pro1756Ser)
c.5422C>T (p.Pro1808Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806876C>ACA384885809SCN8Ac.5390C>A (p.Pro1797His)
c.3454C>A
c.5267C>A (p.Pro1756His)
c.5423C>A (p.Pro1808His)
12g.51806876C>GCA384885811SCN8Ac.5390C>G (p.Pro1797Arg)
c.3454C>G
c.5267C>G (p.Pro1756Arg)
c.5423C>G (p.Pro1808Arg)
12g.51806876C>TCA384885813SCN8Ac.5390C>T (p.Pro1797Leu)
c.3454C>T
c.5267C>T (p.Pro1756Leu)
c.5423C>T (p.Pro1808Leu)
12g.51806877C>ACA480062219SCN8Ac.5391C>A (p.Pro1797=)
c.3455C>A
c.5268C>A (p.Pro1756=)
c.5424C>A (p.Pro1808=)
12g.51806877C=CA2036193944SCN8Ac.5391C= (p.Pro1797=)
c.3455C=
c.5268C= (p.Pro1756=)
c.5424C= (p.Pro1808=)
12g.51806877C>GCA480062217SCN8Ac.5391C>G (p.Pro1797=)
c.3455C>G
c.5268C>G (p.Pro1756=)
c.5424C>G (p.Pro1808=)
12g.51806877C>TCA6571915SCN8Ac.5391C>T (p.Pro1797=)
c.3455C>T
c.5268C>T (p.Pro1756=)
c.5424C>T (p.Pro1808=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806878G>ACA384885823SCN8Ac.5392G>A (p.Asp1798Asn)
c.3456G>A
c.5269G>A (p.Asp1757Asn)
c.5425G>A (p.Asp1809Asn)
 ClinVar dbSNP gnomAD v4
12g.51806878G>CCA384885825SCN8Ac.5392G>C (p.Asp1798His)
c.3456G>C
c.5269G>C (p.Asp1757His)
c.5425G>C (p.Asp1809His)
12g.51806878G>TCA384885833SCN8Ac.5392G>T (p.Asp1798Tyr)
c.3456G>T
c.5269G>T (p.Asp1757Tyr)
c.5425G>T (p.Asp1809Tyr)
12g.51806879A>CCA384885840SCN8Ac.5393A>C (p.Asp1798Ala)
c.3457A>C
c.5270A>C (p.Asp1757Ala)
c.5426A>C (p.Asp1809Ala)
12g.51806879A>GCA384885839SCN8Ac.5393A>G (p.Asp1798Gly)
c.3457A>G
c.5270A>G (p.Asp1757Gly)
c.5426A>G (p.Asp1809Gly)
12g.51806879A>TCA384885836SCN8Ac.5393A>T (p.Asp1798Val)
c.3457A>T
c.5270A>T (p.Asp1757Val)
c.5426A>T (p.Asp1809Val)
12g.51806880T>ACA384885842SCN8Ac.5394T>A (p.Asp1798Glu)
c.3458T>A
c.5271T>A (p.Asp1757Glu)
c.5427T>A (p.Asp1809Glu)
12g.51806880T>CCA480062226SCN8Ac.5394T>C (p.Asp1798=)
c.3458T>C
c.5271T>C (p.Asp1757=)
c.5427T>C (p.Asp1809=)
 gnomAD v4
12g.51806880T>GCA384885844SCN8Ac.5394T>G (p.Asp1798Glu)
c.3458T>G
c.5271T>G (p.Asp1757Glu)
c.5427T>G (p.Asp1809Glu)
12g.51806881G>ACA384885847SCN8Ac.5395G>A (p.Ala1799Thr)
c.3459G>A
c.5272G>A (p.Ala1758Thr)
c.5428G>A (p.Ala1810Thr)
12g.51806881G>CCA384885849SCN8Ac.5395G>C (p.Ala1799Pro)
c.3459G>C
c.5272G>C (p.Ala1758Pro)
c.5428G>C (p.Ala1810Pro)
12g.51806881G>TCA384885851SCN8Ac.5395G>T (p.Ala1799Ser)
c.3459G>T
c.5272G>T (p.Ala1758Ser)
c.5428G>T (p.Ala1810Ser)
12g.51806882C>ACA384885853SCN8Ac.5396C>A (p.Ala1799Asp)
c.3460C>A
c.5273C>A (p.Ala1758Asp)
c.5429C>A (p.Ala1810Asp)
12g.51806882C>GCA384885855SCN8Ac.5396C>G (p.Ala1799Gly)
c.3460C>G
c.5273C>G (p.Ala1758Gly)
c.5429C>G (p.Ala1810Gly)
12g.51806882C>TCA384885856SCN8Ac.5396C>T (p.Ala1799Val)
c.3460C>T
c.5273C>T (p.Ala1758Val)
c.5429C>T (p.Ala1810Val)
12g.51806883C>ACA480062231SCN8Ac.5397C>A (p.Ala1799=)
c.3461C>A
c.5274C>A (p.Ala1758=)
c.5430C>A (p.Ala1810=)
12g.51806883C=CA2036193947SCN8Ac.5397C= (p.Ala1799=)
c.3461C=
c.5274C= (p.Ala1758=)
c.5430C= (p.Ala1810=)
12g.51806883C>GCA480062233SCN8Ac.5397C>G (p.Ala1799=)
c.3461C>G
c.5274C>G (p.Ala1758=)
c.5430C>G (p.Ala1810=)
12g.51806883C>TCA236327625SCN8Ac.5397C>T (p.Ala1799=)
c.3461C>T
c.5274C>T (p.Ala1758=)
c.5430C>T (p.Ala1810=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806884A>CCA384885860SCN8Ac.5398A>C (p.Thr1800Pro)
c.3462A>C
c.5275A>C (p.Thr1759Pro)
c.5431A>C (p.Thr1811Pro)
12g.51806884A>GCA384885862SCN8Ac.5398A>G (p.Thr1800Ala)
c.3462A>G
c.5275A>G (p.Thr1759Ala)
c.5431A>G (p.Thr1811Ala)
12g.51806884A>TCA384885863SCN8Ac.5398A>T (p.Thr1800Ser)
c.3462A>T
c.5275A>T (p.Thr1759Ser)
c.5431A>T (p.Thr1811Ser)
12g.51806885C>ACA384885869SCN8Ac.5399C>A (p.Thr1800Asn)
c.3463C>A
c.5276C>A (p.Thr1759Asn)
c.5432C>A (p.Thr1811Asn)
12g.51806885C>GCA384885871SCN8Ac.5399C>G (p.Thr1800Ser)
c.3463C>G
c.5276C>G (p.Thr1759Ser)
c.5432C>G (p.Thr1811Ser)
12g.51806885C>TCA384885867SCN8Ac.5399C>T (p.Thr1800Ile)
c.3463C>T
c.5276C>T (p.Thr1759Ile)
c.5432C>T (p.Thr1811Ile)
12g.51806886C>ACA480062238SCN8Ac.5400C>A (p.Thr1800=)
c.3464C>A
c.5277C>A (p.Thr1759=)
c.5433C>A (p.Thr1811=)
12g.51806886C>GCA480062240SCN8Ac.5400C>G (p.Thr1800=)
c.3464C>G
c.5277C>G (p.Thr1759=)
c.5433C>G (p.Thr1811=)
12g.51806886C>TCA480062242SCN8Ac.5400C>T (p.Thr1800=)
c.3464C>T
c.5277C>T (p.Thr1759=)
c.5433C>T (p.Thr1811=)
12g.51806887C>ACA384885873SCN8Ac.5401C>A (p.Gln1801Lys)
c.3465C>A
c.5278C>A (p.Gln1760Lys)
c.5434C>A (p.Gln1812Lys)
12g.51806887C=CA2036193952SCN8Ac.5401C= (p.Gln1801=)
c.3465C=
c.5278C= (p.Gln1760=)
c.5434C= (p.Gln1812=)
12g.51806887C>GCA10586300SCN8Ac.5401C>G (p.Gln1801Glu)
c.3465C>G
c.5278C>G (p.Gln1760Glu)
c.5434C>G (p.Gln1812Glu)
 ClinVar dbSNP
12g.51806887C>TCA384885875SCN8Ac.5401C>T (p.Gln1801Ter)
c.3465C>T
c.5278C>T (p.Gln1760Ter)
c.5434C>T (p.Gln1812Ter)
12g.51806888A>CCA384885877SCN8Ac.5402A>C (p.Gln1801Pro)
c.3466A>C
c.5279A>C (p.Gln1760Pro)
c.5435A>C (p.Gln1812Pro)
12g.51806888A>GCA384885879SCN8Ac.5402A>G (p.Gln1801Arg)
c.3466A>G
c.5279A>G (p.Gln1760Arg)
c.5435A>G (p.Gln1812Arg)
12g.51806888A>TCA384885881SCN8Ac.5402A>T (p.Gln1801Leu)
c.3466A>T
c.5279A>T (p.Gln1760Leu)
c.5435A>T (p.Gln1812Leu)
12g.51806889G>ACA480062247SCN8Ac.5403G>A (p.Gln1801=)
c.3467G>A
c.5280G>A (p.Gln1760=)
c.5436G>A (p.Gln1812=)
 ClinVar dbSNP
12g.51806889G>CCA384885885SCN8Ac.5403G>C (p.Gln1801His)
c.3467G>C
c.5280G>C (p.Gln1760His)
c.5436G>C (p.Gln1812His)
12g.51806889G=CA2036193961SCN8Ac.5403G= (p.Gln1801=)
c.3467G=
c.5280G= (p.Gln1760=)
c.5436G= (p.Gln1812=)
12g.51806889G>TCA384885888SCN8Ac.5403G>T (p.Gln1801His)
c.3467G>T
c.5280G>T (p.Gln1760His)
c.5436G>T (p.Gln1812His)
12g.51806890T>ACA384885892SCN8Ac.5404T>A (p.Phe1802Ile)
c.3468T>A
c.5281T>A (p.Phe1761Ile)
c.5437T>A (p.Phe1813Ile)
12g.51806890T>CCA384885895SCN8Ac.5404T>C (p.Phe1802Leu)
c.3468T>C
c.5281T>C (p.Phe1761Leu)
c.5437T>C (p.Phe1813Leu)
12g.51806890T>GCA384885898SCN8Ac.5404T>G (p.Phe1802Val)
c.3468T>G
c.5281T>G (p.Phe1761Val)
c.5437T>G (p.Phe1813Val)
12g.51806891T>ACA384885903SCN8Ac.5405T>A (p.Phe1802Tyr)
c.3469T>A
c.5282T>A (p.Phe1761Tyr)
c.5438T>A (p.Phe1813Tyr)
12g.51806891T>CCA384885906SCN8Ac.5405T>C (p.Phe1802Ser)
c.3469T>C
c.5282T>C (p.Phe1761Ser)
c.5438T>C (p.Phe1813Ser)
12g.51806891T>GCA384885909SCN8Ac.5405T>G (p.Phe1802Cys)
c.3469T>G
c.5282T>G (p.Phe1761Cys)
c.5438T>G (p.Phe1813Cys)
12g.51806892C>ACA384885913SCN8Ac.5406C>A (p.Phe1802Leu)
c.3470C>A
c.5283C>A (p.Phe1761Leu)
c.5439C>A (p.Phe1813Leu)
12g.51806892C>GCA384885916SCN8Ac.5406C>G (p.Phe1802Leu)
c.3470C>G
c.5283C>G (p.Phe1761Leu)
c.5439C>G (p.Phe1813Leu)
12g.51806892C>TCA480062262SCN8Ac.5406C>T (p.Phe1802=)
c.3470C>T
c.5283C>T (p.Phe1761=)
c.5439C>T (p.Phe1813=)
12g.51806893A>CCA384885921SCN8Ac.5407A>C (p.Ile1803Leu)
c.3471A>C
c.5284A>C (p.Ile1762Leu)
c.5440A>C (p.Ile1814Leu)
12g.51806893A>GCA384885924SCN8Ac.5407A>G (p.Ile1803Val)
c.3471A>G
c.5284A>G (p.Ile1762Val)
c.5440A>G (p.Ile1814Val)
 gnomAD v4
12g.51806893A>TCA384885927SCN8Ac.5407A>T (p.Ile1803Phe)
c.3471A>T
c.5284A>T (p.Ile1762Phe)
c.5440A>T (p.Ile1814Phe)
12g.51806894T>ACA384885931SCN8Ac.5408T>A (p.Ile1803Asn)
c.3472T>A
c.5285T>A (p.Ile1762Asn)
c.5441T>A (p.Ile1814Asn)
12g.51806894T>CCA384885934SCN8Ac.5408T>C (p.Ile1803Thr)
c.3472T>C
c.5285T>C (p.Ile1762Thr)
c.5441T>C (p.Ile1814Thr)
12g.51806894T>GCA384885937SCN8Ac.5408T>G (p.Ile1803Ser)
c.3472T>G
c.5285T>G (p.Ile1762Ser)
c.5441T>G (p.Ile1814Ser)
12g.51806895T>ACA480062269SCN8Ac.5409T>A (p.Ile1803=)
c.3473T>A
c.5286T>A (p.Ile1762=)
c.5442T>A (p.Ile1814=)
12g.51806895T>CCA480062270SCN8Ac.5409T>C (p.Ile1803=)
c.3473T>C
c.5286T>C (p.Ile1762=)
c.5442T>C (p.Ile1814=)
12g.51806895T>GCA384885941SCN8Ac.5409T>G (p.Ile1803Met)
c.3473T>G
c.5286T>G (p.Ile1762Met)
c.5442T>G (p.Ile1814Met)
12g.51806896G>ACA384885944SCN8Ac.5410G>A (p.Glu1804Lys)
c.3474G>A
c.5287G>A (p.Glu1763Lys)
c.5443G>A (p.Glu1815Lys)
12g.51806896G>CCA384885946SCN8Ac.5410G>C (p.Glu1804Gln)
c.3474G>C
c.5287G>C (p.Glu1763Gln)
c.5443G>C (p.Glu1815Gln)
12g.51806896G=CA2036193969SCN8Ac.5410G= (p.Glu1804=)
c.3474G=
c.5287G= (p.Glu1763=)
c.5443G= (p.Glu1815=)
12g.51806896G>TCA384885949SCN8Ac.5410G>T (p.Glu1804Ter)
c.3474G>T
c.5287G>T (p.Glu1763Ter)
c.5443G>T (p.Glu1815Ter)
 dbSNP
12g.51806897A>CCA384885965SCN8Ac.5411A>C (p.Glu1804Ala)
c.3475A>C
c.5288A>C (p.Glu1763Ala)
c.5444A>C (p.Glu1815Ala)
12g.51806897A>GCA384885968SCN8Ac.5411A>G (p.Glu1804Gly)
c.3475A>G
c.5288A>G (p.Glu1763Gly)
c.5444A>G (p.Glu1815Gly)
12g.51806897A>TCA384885970SCN8Ac.5411A>T (p.Glu1804Val)
c.3475A>T
c.5288A>T (p.Glu1763Val)
c.5444A>T (p.Glu1815Val)
12g.51806898G>ACA480062277SCN8Ac.5412G>A (p.Glu1804=)
c.3476G>A
c.5289G>A (p.Glu1763=)
c.5445G>A (p.Glu1815=)
 ClinVar
12g.51806898G>CCA236327630SCN8Ac.5412G>C (p.Glu1804Asp)
c.3476G>C
c.5289G>C (p.Glu1763Asp)
c.5445G>C (p.Glu1815Asp)
 ClinVar dbSNP gnomAD v4
12g.51806898G=CA2036193974SCN8Ac.5412G= (p.Glu1804=)
c.3476G=
c.5289G= (p.Glu1763=)
c.5445G= (p.Glu1815=)
12g.51806898G>TCA384885973SCN8Ac.5412G>T (p.Glu1804Asp)
c.3476G>T
c.5289G>T (p.Glu1763Asp)
c.5445G>T (p.Glu1815Asp)
12g.51806899T>ACA384885979SCN8Ac.5413T>A (p.Tyr1805Asn)
c.3477T>A
c.5290T>A (p.Tyr1764Asn)
c.5446T>A (p.Tyr1816Asn)
 dbSNP gnomAD v3 gnomAD v4
12g.51806899T>CCA384885985SCN8Ac.5413T>C (p.Tyr1805His)
c.3477T>C
c.5290T>C (p.Tyr1764His)
c.5446T>C (p.Tyr1816His)
12g.51806899T>GCA384885982SCN8Ac.5413T>G (p.Tyr1805Asp)
c.3477T>G
c.5290T>G (p.Tyr1764Asp)
c.5446T>G (p.Tyr1816Asp)
12g.51806899T=CA2036193980SCN8Ac.5413T= (p.Tyr1805=)
c.3477T=
c.5290T= (p.Tyr1764=)
c.5446T= (p.Tyr1816=)
12g.51806900A>CCA384885989SCN8Ac.5414A>C (p.Tyr1805Ser)
c.3478A>C
c.5291A>C (p.Tyr1764Ser)
c.5447A>C (p.Tyr1816Ser)
12g.51806900A>GCA384885992SCN8Ac.5414A>G (p.Tyr1805Cys)
c.3478A>G
c.5291A>G (p.Tyr1764Cys)
c.5447A>G (p.Tyr1816Cys)
12g.51806900A>TCA384885994SCN8Ac.5414A>T (p.Tyr1805Phe)
c.3478A>T
c.5291A>T (p.Tyr1764Phe)
c.5447A>T (p.Tyr1816Phe)
12g.51806901C>ACA384885997SCN8Ac.5415C>A (p.Tyr1805Ter)
c.3479C>A
c.5292C>A (p.Tyr1764Ter)
c.5448C>A (p.Tyr1816Ter)
12g.51806901C>GCA384885998SCN8Ac.5415C>G (p.Tyr1805Ter)
c.3479C>G
c.5292C>G (p.Tyr1764Ter)
c.5448C>G (p.Tyr1816Ter)
12g.51806901C>TCA480062284SCN8Ac.5415C>T (p.Tyr1805=)
c.3479C>T
c.5292C>T (p.Tyr1764=)
c.5448C>T (p.Tyr1816=)
12g.51806902T>ACA384886001SCN8Ac.5416T>A (p.Cys1806Ser)
c.3480T>A
c.5293T>A (p.Cys1765Ser)
c.5449T>A (p.Cys1817Ser)
12g.51806902T>CCA384886002SCN8Ac.5416T>C (p.Cys1806Arg)
c.3480T>C
c.5293T>C (p.Cys1765Arg)
c.5449T>C (p.Cys1817Arg)
 ClinVar dbSNP gnomAD v4
12g.51806902T>GCA384886004SCN8Ac.5416T>G (p.Cys1806Gly)
c.3480T>G
c.5293T>G (p.Cys1765Gly)
c.5449T>G (p.Cys1817Gly)
12g.51806902T=CA2036193986SCN8Ac.5416T= (p.Cys1806=)
c.3480T=
c.5293T= (p.Cys1765=)
c.5449T= (p.Cys1817=)
12g.51806903G>ACA318296SCN8Ac.5417G>A (p.Cys1806Tyr)
c.3481G>A
c.5294G>A (p.Cys1765Tyr)
c.5450G>A (p.Cys1817Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51806903G>CCA384886012SCN8Ac.5417G>C (p.Cys1806Ser)
c.3481G>C
c.5294G>C (p.Cys1765Ser)
c.5450G>C (p.Cys1817Ser)
 gnomAD v4
12g.51806903G=CA2036193994SCN8Ac.5417G= (p.Cys1806=)
c.3481G=
c.5294G= (p.Cys1765=)
c.5450G= (p.Cys1817=)
12g.51806903G>TCA384886021SCN8Ac.5417G>T (p.Cys1806Phe)
c.3481G>T
c.5294G>T (p.Cys1765Phe)
c.5450G>T (p.Cys1817Phe)
 gnomAD v4
12g.51806904T>ACA384886025SCN8Ac.5418T>A (p.Cys1806Ter)
c.3482T>A
c.5295T>A (p.Cys1765Ter)
c.5451T>A (p.Cys1817Ter)
 dbSNP
12g.51806904T>CCA480062290SCN8Ac.5418T>C (p.Cys1806=)
c.3482T>C
c.5295T>C (p.Cys1765=)
c.5451T>C (p.Cys1817=)
12g.51806904T>GCA384886027SCN8Ac.5418T>G (p.Cys1806Trp)
c.3482T>G
c.5295T>G (p.Cys1765Trp)
c.5451T>G (p.Cys1817Trp)
12g.51806904T=CA2036194001SCN8Ac.5418T= (p.Cys1806=)
c.3482T=
c.5295T= (p.Cys1765=)
c.5451T= (p.Cys1817=)
12g.51806905A=CA2036194007SCN8Ac.5419A= (p.Lys1807=)
c.3483A=
c.5296A= (p.Lys1766=)
c.5452A= (p.Lys1818=)
12g.51806905A>CCA384886032SCN8Ac.5419A>C (p.Lys1807Gln)
c.3483A>C
c.5296A>C (p.Lys1766Gln)
c.5452A>C (p.Lys1818Gln)
12g.51806905A>GCA384886036SCN8Ac.5419A>G (p.Lys1807Glu)
c.3483A>G
c.5296A>G (p.Lys1766Glu)
c.5452A>G (p.Lys1818Glu)
12g.51806905A>TCA384886034SCN8Ac.5419A>T (p.Lys1807Ter)
c.3483A>T
c.5296A>T (p.Lys1766Ter)
c.5452A>T (p.Lys1818Ter)
 dbSNP
12g.51806906A=CA2036194014SCN8Ac.5420A= (p.Lys1807=)
c.3484A=
c.5297A= (p.Lys1766=)
c.5453A= (p.Lys1818=)
12g.51806906A>CCA384886041SCN8Ac.5420A>C (p.Lys1807Thr)
c.3484A>C
c.5297A>C (p.Lys1766Thr)
c.5453A>C (p.Lys1818Thr)
12g.51806906A>GCA384886044SCN8Ac.5420A>G (p.Lys1807Arg)
c.3484A>G
c.5297A>G (p.Lys1766Arg)
c.5453A>G (p.Lys1818Arg)
 dbSNP gnomAD v4
12g.51806906A>TCA384886047SCN8Ac.5420A>T (p.Lys1807Met)
c.3484A>T
c.5297A>T (p.Lys1766Met)
c.5453A>T (p.Lys1818Met)
12g.51806907G>ACA480062296SCN8Ac.5421G>A (p.Lys1807=)
c.3485G>A
c.5298G>A (p.Lys1766=)
c.5454G>A (p.Lys1818=)
 ClinVar dbSNP gnomAD v4
12g.51806907G>CCA384886051SCN8Ac.5421G>C (p.Lys1807Asn)
c.3485G>C
c.5298G>C (p.Lys1766Asn)
c.5454G>C (p.Lys1818Asn)
12g.51806907G=CA2036194018SCN8Ac.5421G= (p.Lys1807=)
c.3485G=
c.5298G= (p.Lys1766=)
c.5454G= (p.Lys1818=)
12g.51806907G>TCA384886063SCN8Ac.5421G>T (p.Lys1807Asn)
c.3485G>T
c.5298G>T (p.Lys1766Asn)
c.5454G>T (p.Lys1818Asn)
12g.51806908C>ACA384886068SCN8Ac.5422C>A (p.Leu1808Met)
c.3486C>A
c.5299C>A (p.Leu1767Met)
c.5455C>A (p.Leu1819Met)
12g.51806908C>GCA384886070SCN8Ac.5422C>G (p.Leu1808Val)
c.3486C>G
c.5299C>G (p.Leu1767Val)
c.5455C>G (p.Leu1819Val)
12g.51806908C>TCA480062300SCN8Ac.5422C>T (p.Leu1808=)
c.3486C>T
c.5299C>T (p.Leu1767=)
c.5455C>T (p.Leu1819=)
 gnomAD v4
12g.51806909T>ACA384886075SCN8Ac.5423T>A (p.Leu1808Gln)
c.3487T>A
c.5300T>A (p.Leu1767Gln)
c.5456T>A (p.Leu1819Gln)
12g.51806909T>CCA384886076SCN8Ac.5423T>C (p.Leu1808Pro)
c.3487T>C
c.5300T>C (p.Leu1767Pro)
c.5456T>C (p.Leu1819Pro)
12g.51806909T>GCA384886077SCN8Ac.5423T>G (p.Leu1808Arg)
c.3487T>G
c.5300T>G (p.Leu1767Arg)
c.5456T>G (p.Leu1819Arg)
12g.51806910G>ACA480062303SCN8Ac.5424G>A (p.Leu1808=)
c.3488G>A
c.5301G>A (p.Leu1767=)
c.5457G>A (p.Leu1819=)
 gnomAD v4
12g.51806910G>CCA480062305SCN8Ac.5424G>C (p.Leu1808=)
c.3488G>C
c.5301G>C (p.Leu1767=)
c.5457G>C (p.Leu1819=)
12g.51806910G>TCA480062307SCN8Ac.5424G>T (p.Leu1808=)
c.3488G>T
c.5301G>T (p.Leu1767=)
c.5457G>T (p.Leu1819=)
12g.51806911G>ACA384886081SCN8Ac.5425G>A (p.Ala1809Thr)
c.3489G>A
c.5302G>A (p.Ala1768Thr)
c.5458G>A (p.Ala1820Thr)
12g.51806911G>CCA384886079SCN8Ac.5425G>C (p.Ala1809Pro)
c.3489G>C
c.5302G>C (p.Ala1768Pro)
c.5458G>C (p.Ala1820Pro)
 dbSNP
12g.51806911G=CA2036194022SCN8Ac.5425G= (p.Ala1809=)
c.3489G=
c.5302G= (p.Ala1768=)
c.5458G= (p.Ala1820=)
12g.51806911G>TCA384886078SCN8Ac.5425G>T (p.Ala1809Ser)
c.3489G>T
c.5302G>T (p.Ala1768Ser)
c.5458G>T (p.Ala1820Ser)
12g.51806912C>ACA384886084SCN8Ac.5426C>A (p.Ala1809Glu)
c.3490C>A
c.5303C>A (p.Ala1768Glu)
c.5459C>A (p.Ala1820Glu)
 gnomAD v4
12g.51806912C>GCA384886086SCN8Ac.5426C>G (p.Ala1809Gly)
c.3490C>G
c.5303C>G (p.Ala1768Gly)
c.5459C>G (p.Ala1820Gly)
12g.51806912C>TCA384886089SCN8Ac.5426C>T (p.Ala1809Val)
c.3490C>T
c.5303C>T (p.Ala1768Val)
c.5459C>T (p.Ala1820Val)
12g.51806913A>CCA480062312SCN8Ac.5427A>C (p.Ala1809=)
c.3491A>C
c.5304A>C (p.Ala1768=)
c.5460A>C (p.Ala1820=)
12g.51806913A>GCA480062313SCN8Ac.5427A>G (p.Ala1809=)
c.3491A>G
c.5304A>G (p.Ala1768=)
c.5460A>G (p.Ala1820=)
12g.51806913A>TCA480062315SCN8Ac.5427A>T (p.Ala1809=)
c.3491A>T
c.5304A>T (p.Ala1768=)
c.5460A>T (p.Ala1820=)
12g.51806914G>ACA384886092SCN8Ac.5428G>A (p.Asp1810Asn)
c.3492G>A
c.5305G>A (p.Asp1769Asn)
c.5461G>A (p.Asp1821Asn)
12g.51806914G>CCA384886095SCN8Ac.5428G>C (p.Asp1810His)
c.3492G>C
c.5305G>C (p.Asp1769His)
c.5461G>C (p.Asp1821His)
 ClinVar
12g.51806914G>TCA384886097SCN8Ac.5428G>T (p.Asp1810Tyr)
c.3492G>T
c.5305G>T (p.Asp1769Tyr)
c.5461G>T (p.Asp1821Tyr)
12g.51806915A>CCA384886105SCN8Ac.5429A>C (p.Asp1810Ala)
c.3493A>C
c.5306A>C (p.Asp1769Ala)
c.5462A>C (p.Asp1821Ala)
12g.51806915A>GCA384886101SCN8Ac.5429A>G (p.Asp1810Gly)
c.3493A>G
c.5306A>G (p.Asp1769Gly)
c.5462A>G (p.Asp1821Gly)
12g.51806915A>TCA384886104SCN8Ac.5429A>T (p.Asp1810Val)
c.3493A>T
c.5306A>T (p.Asp1769Val)
c.5462A>T (p.Asp1821Val)
12g.51806916C>ACA384886109SCN8Ac.5430C>A (p.Asp1810Glu)
c.3494C>A
c.5307C>A (p.Asp1769Glu)
c.5463C>A (p.Asp1821Glu)
 ClinVar dbSNP gnomAD v4
12g.51806916C=CA2036194025SCN8Ac.5430C= (p.Asp1810=)
c.3494C=
c.5307C= (p.Asp1769=)
c.5463C= (p.Asp1821=)
12g.51806916C>GCA384886111SCN8Ac.5430C>G (p.Asp1810Glu)
c.3494C>G
c.5307C>G (p.Asp1769Glu)
c.5463C>G (p.Asp1821Glu)
 dbSNP gnomAD v2 gnomAD v4
12g.51806916C>TCA480062323SCN8Ac.5430C>T (p.Asp1810=)
c.3494C>T
c.5307C>T (p.Asp1769=)
c.5463C>T (p.Asp1821=)
12g.51806917T>ACA384886116SCN8Ac.5431T>A (p.Phe1811Ile)
c.3495T>A
c.5308T>A (p.Phe1770Ile)
c.5464T>A (p.Phe1822Ile)
12g.51806917T>CCA384886118SCN8Ac.5431T>C (p.Phe1811Leu)
c.3495T>C
c.5308T>C (p.Phe1770Leu)
c.5464T>C (p.Phe1822Leu)
12g.51806917T>GCA384886121SCN8Ac.5431T>G (p.Phe1811Val)
c.3495T>G
c.5308T>G (p.Phe1770Val)
c.5464T>G (p.Phe1822Val)
12g.51806918T>ACA384886122SCN8Ac.5432T>A (p.Phe1811Tyr)
c.3496T>A
c.5309T>A (p.Phe1770Tyr)
c.5465T>A (p.Phe1822Tyr)
12g.51806918T>CCA384886124SCN8Ac.5432T>C (p.Phe1811Ser)
c.3496T>C
c.5309T>C (p.Phe1770Ser)
c.5465T>C (p.Phe1822Ser)
12g.51806918T>GCA384886123SCN8Ac.5432T>G (p.Phe1811Cys)
c.3496T>G
c.5309T>G (p.Phe1770Cys)
c.5465T>G (p.Phe1822Cys)
12g.51806919T>ACA384886125SCN8Ac.5433T>A (p.Phe1811Leu)
c.3497T>A
c.5310T>A (p.Phe1770Leu)
c.5466T>A (p.Phe1822Leu)
12g.51806919T>CCA480062328SCN8Ac.5433T>C (p.Phe1811=)
c.3497T>C
c.5310T>C (p.Phe1770=)
c.5466T>C (p.Phe1822=)
12g.51806919T>GCA384886126SCN8Ac.5433T>G (p.Phe1811Leu)
c.3497T>G
c.5310T>G (p.Phe1770Leu)
c.5466T>G (p.Phe1822Leu)
12g.51806920G>ACA384886127SCN8Ac.5434G>A (p.Ala1812Thr)
c.3498G>A
c.5311G>A (p.Ala1771Thr)
c.5467G>A (p.Ala1823Thr)
12g.51806920G>CCA384886128SCN8Ac.5434G>C (p.Ala1812Pro)
c.3498G>C
c.5311G>C (p.Ala1771Pro)
c.5467G>C (p.Ala1823Pro)
12g.51806920G>TCA384886130SCN8Ac.5434G>T (p.Ala1812Ser)
c.3498G>T
c.5311G>T (p.Ala1771Ser)
c.5467G>T (p.Ala1823Ser)
12g.51806921C>ACA384886131SCN8Ac.5435C>A (p.Ala1812Glu)
c.3499C>A
c.5312C>A (p.Ala1771Glu)
c.5468C>A (p.Ala1823Glu)
12g.51806921C>GCA384886133SCN8Ac.5435C>G (p.Ala1812Gly)
c.3499C>G
c.5312C>G (p.Ala1771Gly)
c.5468C>G (p.Ala1823Gly)
12g.51806921C>TCA384886135SCN8Ac.5435C>T (p.Ala1812Val)
c.3499C>T
c.5312C>T (p.Ala1771Val)
c.5468C>T (p.Ala1823Val)

Number of alleles fetched