Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.47834448T>ACA406628566CRXc.5T>A (p.Met2Lys)
n.78-1795T>A
19g.47834448T>CCA406628574CRXc.5T>C (p.Met2Thr)
n.78-1795T>C
gnomAD v4
19g.47834448T>GCA406628570CRXc.5T>G (p.Met2Arg)
n.78-1795T>G
19g.47834449G>ACA406628576CRXc.6G>A (p.Met2Ile)
n.78-1794G>A
19g.47834449G>CCA406628578CRXc.6G>C (p.Met2Ile)
n.78-1794G>C
19g.47834449G>TCA406628585CRXc.6G>T (p.Met2Ile)
n.78-1794G>T
19g.47834450delCA2576833130CRXc.7del (p.Ala3ArgfsTer3)
n.78-1793del
19g.47834450G>ACA406628587CRXc.7G>A (p.Ala3Thr)
n.78-1793G>A
dbSNP gnomAD v2
19g.47834450G>CCA406628588CRXc.7G>C (p.Ala3Pro)
n.78-1793G>C
dbSNP gnomAD v4
19g.47834450G=CA2339606492CRXc.7G= (p.Ala3=)
n.78-1793G=
19g.47834450G>TCA406628589CRXc.7G>T (p.Ala3Ser)
n.78-1793G>T
dbSNP
19g.47834451C>ACA406628593CRXc.8C>A (p.Ala3Glu)
n.78-1792C>A
gnomAD v4
19g.47834451C=CA2339606493CRXc.8C= (p.Ala3=)
n.78-1792C=
19g.47834451C>GCA406628596CRXc.8C>G (p.Ala3Gly)
n.78-1792C>G
19g.47834451C>TCA9544358CRXc.8C>T (p.Ala3Val)
n.78-1792C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834452G>ACA9544359CRXc.9G>A (p.Ala3=)
n.78-1791G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.47834452G>CCA508002469CRXc.9G>C (p.Ala3=)
n.78-1791G>C
19g.47834452G=CA2339606494CRXc.9G= (p.Ala3=)
n.78-1791G=
19g.47834452G>TCA508002467CRXc.9G>T (p.Ala3=)
n.78-1791G>T
19g.47834453T>ACA406628608CRXc.10T>A (p.Tyr4Asn)
n.78-1790T>A
dbSNP gnomAD v3 gnomAD v4
19g.47834453T>CCA9544360CRXc.10T>C (p.Tyr4His)
n.78-1790T>C
dbSNP ExAC gnomAD v3 gnomAD v4
19g.47834453T>GCA406628602CRXc.10T>G (p.Tyr4Asp)
n.78-1790T>G
19g.47834453T=CA2339606495CRXc.10T= (p.Tyr4=)
n.78-1790T=
19g.47834454A=CA2339606496CRXc.11A= (p.Tyr4=)
n.78-1789A=
19g.47834454A>CCA406628610CRXc.11A>C (p.Tyr4Ser)
n.78-1789A>C
19g.47834454A>GCA406628612CRXc.11A>G (p.Tyr4Cys)
n.78-1789A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.47834454A>TCA406628616CRXc.11A>T (p.Tyr4Phe)
n.78-1789A>T
19g.47834455T>ACA406628620CRXc.12T>A (p.Tyr4Ter)
n.78-1788T>A
19g.47834455T>CCA508002481CRXc.12T>C (p.Tyr4=)
n.78-1788T>C
19g.47834455T>GCA406628622CRXc.12T>G (p.Tyr4Ter)
n.78-1788T>G
19g.47834456A=CA2339606497CRXc.13A= (p.Met5=)
n.78-1787A=
19g.47834456A>CCA406628631CRXc.13A>C (p.Met5Leu)
n.78-1787A>C
19g.47834456A>GCA9544361CRXc.13A>G (p.Met5Val)
n.78-1787A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834456A>TCA406628626CRXc.13A>T (p.Met5Leu)
n.78-1787A>T
19g.47834457T>ACA406628636CRXc.14T>A (p.Met5Lys)
n.78-1786T>A
19g.47834457T>CCA406628656CRXc.14T>C (p.Met5Thr)
n.78-1786T>C
dbSNP gnomAD v2 gnomAD v4
19g.47834457T>GCA406628657CRXc.14T>G (p.Met5Arg)
n.78-1786T>G
19g.47834457T=CA2339606498CRXc.14T= (p.Met5=)
n.78-1786T=
19g.47834458G>ACA406628660CRXc.15G>A (p.Met5Ile)
n.78-1785G>A
19g.47834458G>CCA406628664CRXc.15G>C (p.Met5Ile)
n.78-1785G>C
19g.47834458G=CA2339606499CRXc.15G= (p.Met5=)
n.78-1785G=
19g.47834458G>TCA9544362CRXc.15G>T (p.Met5Ile)
n.78-1785G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834459A>CCA406628669CRXc.16A>C (p.Asn6His)
n.78-1784A>C
19g.47834459A>GCA406628674CRXc.16A>G (p.Asn6Asp)
n.78-1784A>G
19g.47834459A>TCA406628671CRXc.16A>T (p.Asn6Tyr)
n.78-1784A>T
19g.47834460A=CA2339606500CRXc.17A= (p.Asn6=)
n.78-1783A=
19g.47834460A>CCA406628678CRXc.17A>C (p.Asn6Thr)
n.78-1783A>C
19g.47834460A>GCA406628694CRXc.17A>G (p.Asn6Ser)
n.78-1783A>G
dbSNP gnomAD v2 gnomAD v4
19g.47834460A>TCA406628698CRXc.17A>T (p.Asn6Ile)
n.78-1783A>T
19g.47834461C>ACA406628699CRXc.18C>A (p.Asn6Lys)
n.78-1782C>A
19g.47834461C>GCA406628700CRXc.18C>G (p.Asn6Lys)
n.78-1782C>G
19g.47834461C>TCA508002514CRXc.18C>T (p.Asn6=)
n.78-1782C>T
gnomAD v4
19g.47834462C>ACA9544363CRXc.19C>A (p.Pro7Thr)
n.78-1781C>A
dbSNP ExAC
19g.47834462C=CA2339606501CRXc.19C= (p.Pro7=)
n.78-1781C=
19g.47834462C>GCA406628701CRXc.19C>G (p.Pro7Ala)
n.78-1781C>G
19g.47834462C>TCA406628704CRXc.19C>T (p.Pro7Ser)
n.78-1781C>T
gnomAD v4
19g.47834463C>ACA406628705CRXc.20C>A (p.Pro7Gln)
n.78-1780C>A
gnomAD v4
19g.47834463C=CA2339606502CRXc.20C= (p.Pro7=)
n.78-1780C=
19g.47834463C>GCA406628707CRXc.20C>G (p.Pro7Arg)
n.78-1780C>G
19g.47834463C>TCA9544364CRXc.20C>T (p.Pro7Leu)
n.78-1780C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834464G>ACA9544365CRXc.21G>A (p.Pro7=)
n.78-1779G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.47834464G>CCA508002528CRXc.21G>C (p.Pro7=)
n.78-1779G>C
19g.47834464G=CA2339606503CRXc.21G= (p.Pro7=)
n.78-1779G=
19g.47834464G>TCA508002530CRXc.21G>T (p.Pro7=)
n.78-1779G>T
19g.47834467dupCA227616CRXc.24dup (p.Pro9AlafsTer?)
n.78-1776dup
ClinVar dbSNP
19g.47834465G>ACA406628715CRXc.22G>A (p.Gly8Arg)
n.78-1778G>A
COSMIC
19g.47834465G>CCA9544366CRXc.22G>C (p.Gly8Arg)
n.78-1778G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834465G=CA2339606504CRXc.22G= (p.Gly8=)
n.78-1778G=
19g.47834465G>TCA406628718CRXc.22G>T (p.Gly8Trp)
n.78-1778G>T
19g.47834466G>ACA406628724CRXc.23G>A (p.Gly8Glu)
n.78-1777G>A
gnomAD v4
19g.47834466G>CCA406628728CRXc.23G>C (p.Gly8Ala)
n.78-1777G>C
19g.47834466G>TCA406628726CRXc.23G>T (p.Gly8Val)
n.78-1777G>T
19g.47834467G>ACA508002540CRXc.24G>A (p.Gly8=)
n.78-1776G>A
gnomAD v4
19g.47834467G>CCA309207256CRXc.24G>C (p.Gly8=)
n.78-1776G>C
dbSNP gnomAD v2 gnomAD v4
19g.47834467G=CA2339606505CRXc.24G= (p.Gly8=)
n.78-1776G=
19g.47834467G>TCA508002544CRXc.24G>T (p.Gly8=)
n.78-1776G>T
gnomAD v4
19g.47834468C>ACA406628744CRXc.25C>A (p.Pro9Thr)
n.78-1775C>A
19g.47834468C>GCA406628749CRXc.25C>G (p.Pro9Ala)
n.78-1775C>G
19g.47834468C>TCA406628746CRXc.25C>T (p.Pro9Ser)
n.78-1775C>T
ClinVar dbSNP gnomAD v4
19g.47834469C>ACA9544367CRXc.26C>A (p.Pro9His)
n.78-1774C>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.47834469C=CA2339606506CRXc.26C= (p.Pro9=)
n.78-1774C=
19g.47834469C>GCA406628757CRXc.26C>G (p.Pro9Arg)
n.78-1774C>G
19g.47834469C>TCA406628760CRXc.26C>T (p.Pro9Leu)
n.78-1774C>T
19g.47834470C>ACA508002556CRXc.27C>A (p.Pro9=)
n.78-1773C>A
19g.47834470C>GCA508002558CRXc.27C>G (p.Pro9=)
n.78-1773C>G
19g.47834470C>TCA508002561CRXc.27C>T (p.Pro9=)
n.78-1773C>T
gnomAD v4
19g.47834471C>ACA406628764CRXc.28C>A (p.His10Asn)
n.78-1772C>A
19g.47834471C=CA2339606507CRXc.28C= (p.His10=)
n.78-1772C=
19g.47834471C>GCA9544368CRXc.28C>G (p.His10Asp)
n.78-1772C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834471C>TCA406628765CRXc.28C>T (p.His10Tyr)
n.78-1772C>T
19g.47834472A=CA2339606508CRXc.29A= (p.His10=)
n.78-1771A=
19g.47834472A>CCA406628769CRXc.29A>C (p.His10Pro)
n.78-1771A>C
dbSNP gnomAD v2 gnomAD v4
19g.47834472A>GCA9544369CRXc.29A>G (p.His10Arg)
n.78-1771A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.47834472A>TCA406628766CRXc.29A>T (p.His10Leu)
n.78-1771A>T
COSMIC
19g.47834473C>ACA406628771CRXc.30C>A (p.His10Gln)
n.78-1770C>A
gnomAD v4
19g.47834473C=CA2339606509CRXc.30C= (p.His10=)
n.78-1770C=
19g.47834473C>GCA406628773CRXc.30C>G (p.His10Gln)
n.78-1770C>G
19g.47834473C>TCA508002574CRXc.30C>T (p.His10=)
n.78-1770C>T
dbSNP gnomAD v2 gnomAD v4
19g.47834474T>ACA406628777CRXc.31T>A (p.Tyr11Asn)
n.78-1769T>A
19g.47834474T>CCA406628779CRXc.31T>C (p.Tyr11His)
n.78-1769T>C
19g.47834474T>GCA406628781CRXc.31T>G (p.Tyr11Asp)
n.78-1769T>G
19g.47834475A>CCA406628784CRXc.32A>C (p.Tyr11Ser)
n.78-1768A>C
19g.47834475A>GCA406628788CRXc.32A>G (p.Tyr11Cys)
n.78-1768A>G
gnomAD v4 COSMIC
19g.47834475A>TCA406628786CRXc.32A>T (p.Tyr11Phe)
n.78-1768A>T
19g.47834476T>ACA406628790CRXc.33T>A (p.Tyr11Ter)
n.78-1767T>A
19g.47834476T>CCA508002588CRXc.33T>C (p.Tyr11=)
n.78-1767T>C
19g.47834476T>GCA406628791CRXc.33T>G (p.Tyr11Ter)
n.78-1767T>G
19g.47834477T>ACA406628793CRXc.34T>A (p.Ser12Thr)
n.78-1766T>A
19g.47834477T>CCA406628795CRXc.34T>C (p.Ser12Pro)
n.78-1766T>C
dbSNP
19g.47834477T>GCA406628796CRXc.34T>G (p.Ser12Ala)
n.78-1766T>G
19g.47834477T=CA2339606510CRXc.34T= (p.Ser12=)
n.78-1766T=
19g.47834478C>ACA406628797CRXc.35C>A (p.Ser12Tyr)
n.78-1765C>A
19g.47834478C=CA2339606511CRXc.35C= (p.Ser12=)
n.78-1765C=
19g.47834478C>GCA406628799CRXc.35C>G (p.Ser12Cys)
n.78-1765C>G
19g.47834478C>TCA9544370CRXc.35C>T (p.Ser12Phe)
n.78-1765C>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.47834479T>ACA508002605CRXc.36T>A (p.Ser12=)
n.78-1764T>A
19g.47834479T>CCA508002607CRXc.36T>C (p.Ser12=)
n.78-1764T>C
19g.47834479T>GCA508002608CRXc.36T>G (p.Ser12=)
n.78-1764T>G
19g.47834480G>ACA406628802CRXc.37G>A (p.Val13Ile)
n.78-1763G>A
COSMIC
19g.47834480G>CCA9544371CRXc.37G>C (p.Val13Leu)
n.78-1763G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834480G=CA2339606512CRXc.37G= (p.Val13=)
n.78-1763G=
19g.47834480G>TCA406628804CRXc.37G>T (p.Val13Phe)
n.78-1763G>T
19g.47834481T>ACA406628806CRXc.38T>A (p.Val13Asp)
n.78-1762T>A
19g.47834481T>CCA9544372CRXc.38T>C (p.Val13Ala)
n.78-1762T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834481T>GCA406628807CRXc.38T>G (p.Val13Gly)
n.78-1762T>G
19g.47834481T=CA2339606513CRXc.38T= (p.Val13=)
n.78-1762T=
19g.47834482C>ACA508002620CRXc.39C>A (p.Val13=)
n.78-1761C>A
19g.47834482C>GCA508002622CRXc.39C>G (p.Val13=)
n.78-1761C>G
19g.47834482C>TCA508002624CRXc.39C>T (p.Val13=)
n.78-1761C>T
19g.47834483A>CCA406628809CRXc.40A>C (p.Asn14His)
n.78-1760A>C
19g.47834483A>GCA406628811CRXc.40A>G (p.Asn14Asp)
n.78-1760A>G
19g.47834483A>TCA406628813CRXc.40A>T (p.Asn14Tyr)
n.78-1760A>T
19g.47834484A=CA2339606514CRXc.41A= (p.Asn14=)
n.78-1759A=
19g.47834484A>CCA406628814CRXc.41A>C (p.Asn14Thr)
n.78-1759A>C
19g.47834484A>GCA9544373CRXc.41A>G (p.Asn14Ser)
n.78-1759A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834484A>TCA406628816CRXc.41A>T (p.Asn14Ile)
n.78-1759A>T
19g.47834485C>ACA9544375CRXc.42C>A (p.Asn14Lys)
n.78-1758C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.47834485C=CA2339606515CRXc.42C= (p.Asn14=)
n.78-1758C=
19g.47834485C>GCA406628819CRXc.42C>G (p.Asn14Lys)
n.78-1758C>G
19g.47834485C>TCA9544374CRXc.42C>T (p.Asn14=)
n.78-1758C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834486G>ACA9544376CRXc.43G>A (p.Ala15Thr)
n.78-1757G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.47834486G>CCA406628824CRXc.43G>C (p.Ala15Pro)
n.78-1757G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.47834486G=CA2339606516CRXc.43G= (p.Ala15=)
n.78-1757G=
19g.47834486G>TCA406628826CRXc.43G>T (p.Ala15Ser)
n.78-1757G>T
19g.47834487C>ACA406628831CRXc.44C>A (p.Ala15Asp)
n.78-1756C>A
dbSNP gnomAD v2 gnomAD v4
19g.47834487C=CA2339606517CRXc.44C= (p.Ala15=)
n.78-1756C=
19g.47834487C>GCA406628837CRXc.44C>G (p.Ala15Gly)
n.78-1756C>G
19g.47834487C>TCA406628834CRXc.44C>T (p.Ala15Val)
n.78-1756C>T
dbSNP gnomAD v4
19g.47834488C>ACA508002656CRXc.45C>A (p.Ala15=)
n.78-1755C>A
19g.47834488C=CA2339606518CRXc.45C= (p.Ala15=)
n.78-1755C=
19g.47834488C>GCA309207333CRXc.45C>G (p.Ala15=)
n.78-1755C>G
dbSNP gnomAD v3 gnomAD v4
19g.47834488C>TCA508002660CRXc.45C>T (p.Ala15=)
n.78-1755C>T
dbSNP
19g.47834489T>ACA406628839CRXc.46T>A (p.Leu16Met)
n.78-1754T>A
19g.47834489T>CCA508002664CRXc.46T>C (p.Leu16=)
n.78-1754T>C
19g.47834489T>GCA406628841CRXc.46T>G (p.Leu16Val)
n.78-1754T>G
19g.47834490T>ACA406628844CRXc.47T>A (p.Leu16Ter)
n.78-1753T>A
gnomAD v4
19g.47834490T>CCA406628845CRXc.47T>C (p.Leu16Ser)
n.78-1753T>C
19g.47834490T>GCA406628849CRXc.47T>G (p.Leu16Trp)
n.78-1753T>G
19g.47834491G>ACA309207336CRXc.48G>A (p.Leu16=)
n.78-1752G>A
dbSNP gnomAD v4
19g.47834491G>CCA406628853CRXc.48G>C (p.Leu16Phe)
n.78-1752G>C
19g.47834491G=CA2339606519CRXc.48G= (p.Leu16=)
n.78-1752G=
19g.47834491G>TCA406628856CRXc.48G>T (p.Leu16Phe)
n.78-1752G>T
19g.47834492G>ACA406628859CRXc.49G>A (p.Ala17Thr)
n.78-1751G>A
19g.47834492G>CCA406628862CRXc.49G>C (p.Ala17Pro)
n.78-1751G>C
19g.47834492G>TCA406628864CRXc.49G>T (p.Ala17Ser)
n.78-1751G>T
19g.47834493C>ACA406628870CRXc.50C>A (p.Ala17Asp)
n.78-1750C>A
19g.47834493C>GCA406628871CRXc.50C>G (p.Ala17Gly)
n.78-1750C>G
19g.47834493C>TCA406628867CRXc.50C>T (p.Ala17Val)
n.78-1750C>T
gnomAD v4
19g.47834494C>ACA508002689CRXc.51C>A (p.Ala17=)
n.78-1749C>A
19g.47834494C>GCA508002691CRXc.51C>G (p.Ala17=)
n.78-1749C>G
19g.47834494C>TCA508002694CRXc.51C>T (p.Ala17=)
n.78-1749C>T
19g.47834495C>ACA406628874CRXc.52C>A (p.Leu18Ile)
n.78-1748C>A
19g.47834495C=CA2339606520CRXc.52C= (p.Leu18=)
n.78-1748C=
19g.47834495C>GCA406628876CRXc.52C>G (p.Leu18Val)
n.78-1748C>G
gnomAD v4
19g.47834495C>TCA9544377CRXc.52C>T (p.Leu18=)
n.78-1748C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834496T>ACA406628880CRXc.53T>A (p.Leu18Gln)
n.78-1747T>A
19g.47834496T>CCA406628881CRXc.53T>C (p.Leu18Pro)
n.78-1747T>C
19g.47834496T>GCA406628884CRXc.53T>G (p.Leu18Arg)
n.78-1747T>G
19g.47834497A>CCA508002705CRXc.54A>C (p.Leu18=)
n.78-1746A>C
19g.47834497A>GCA508002710CRXc.54A>G (p.Leu18=)
n.78-1746A>G
19g.47834497A>TCA508002708CRXc.54A>T (p.Leu18=)
n.78-1746A>T
19g.47834498A>CCA406628891CRXc.55A>C (p.Ser19Arg)
n.78-1745A>C
19g.47834498A>GCA406628886CRXc.55A>G (p.Ser19Gly)
n.78-1745A>G
19g.47834498A>TCA406628889CRXc.55A>T (p.Ser19Cys)
n.78-1745A>T
gnomAD v4
19g.47834499G>ACA406628894CRXc.56G>A (p.Ser19Asn)
n.78-1744G>A
19g.47834499G>CCA406628896CRXc.56G>C (p.Ser19Thr)
n.78-1744G>C
19g.47834499G>TCA406628899CRXc.56G>T (p.Ser19Ile)
n.78-1744G>T
dbSNP
19g.47834500T>ACA406628905CRXc.57T>A (p.Ser19Arg)
n.78-1743T>A
19g.47834500T>CCA508002724CRXc.57T>C (p.Ser19=)
n.78-1743T>C
19g.47834500T>GCA406628907CRXc.57T>G (p.Ser19Arg)
n.78-1743T>G
19g.47834501G>ACA406628915CRXc.58G>A (p.Gly20Ser)
n.78-1742G>A
19g.47834501G>CCA406628912CRXc.58G>C (p.Gly20Arg)
n.78-1742G>C
19g.47834501G>TCA406628914CRXc.58G>T (p.Gly20Cys)
n.78-1742G>T
19g.47834502G>ACA406628919CRXc.59G>A (p.Gly20Asp)
n.78-1741G>A
19g.47834502G>CCA406628921CRXc.59G>C (p.Gly20Ala)
n.78-1741G>C
19g.47834502G>TCA406628923CRXc.59G>T (p.Gly20Val)
n.78-1741G>T
gnomAD v4
19g.47834502_47834503delinsGCCA2339606521CRXc.59_60delinsGC (p.Gly20=)
n.78-1741_78-1740delinsGC
19g.47834503C>ACA508002738CRXc.60C>A (p.Gly20=)
n.78-1740C>A
dbSNP gnomAD v4
19g.47834503C=CA2339606522CRXc.60C= (p.Gly20=)
n.78-1740C=
19g.47834503C>GCA309207353CRXc.60C>G (p.Gly20=)
n.78-1740C>G
ClinVar dbSNP
19g.47834503C>TCA9544379CRXc.60C>T (p.Gly20=)
n.78-1740C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834506delCA9544378CRXc.63del (p.Ser22ValfsTer4)
n.78-1737del
dbSNP ExAC gnomAD v2 gnomAD v4
19g.47834504C>ACA406628938CRXc.61C>A (p.Pro21Thr)
n.78-1739C>A
19g.47834504C>GCA406628939CRXc.61C>G (p.Pro21Ala)
n.78-1739C>G
19g.47834504C>TCA406628942CRXc.61C>T (p.Pro21Ser)
n.78-1739C>T
19g.47834505C>ACA406628944CRXc.62C>A (p.Pro21His)
n.78-1738C>A
19g.47834505C>GCA406628945CRXc.62C>G (p.Pro21Arg)
n.78-1738C>G
19g.47834505C>TCA406628948CRXc.62C>T (p.Pro21Leu)
n.78-1738C>T
COSMIC
19g.47834506C>ACA508002758CRXc.63C>A (p.Pro21=)
n.78-1737C>A
19g.47834506C=CA2339606523CRXc.63C= (p.Pro21=)
n.78-1737C=
19g.47834506C>GCA508002756CRXc.63C>G (p.Pro21=)
n.78-1737C>G
gnomAD v4
19g.47834506C>TCA309207375CRXc.63C>T (p.Pro21=)
n.78-1737C>T
dbSNP gnomAD v3 gnomAD v4
19g.47834507A>CCA406628951CRXc.64A>C (p.Ser22Arg)
n.78-1736A>C
19g.47834507A>GCA406628957CRXc.64A>G (p.Ser22Gly)
n.78-1736A>G
19g.47834507A>TCA406628954CRXc.64A>T (p.Ser22Cys)
n.78-1736A>T
19g.47834508G>ACA406628960CRXc.65G>A (p.Ser22Asn)
n.78-1735G>A
19g.47834508G>CCA406628962CRXc.65G>C (p.Ser22Thr)
n.78-1735G>C
19g.47834508G>TCA406628964CRXc.65G>T (p.Ser22Ile)
n.78-1735G>T
19g.47834509T>ACA406628968CRXc.66T>A (p.Ser22Arg)
n.78-1734T>A
19g.47834509T>CCA508002769CRXc.66T>C (p.Ser22=)
n.78-1734T>C
19g.47834509T>GCA406628971CRXc.66T>G (p.Ser22Arg)
n.78-1734T>G
19g.47834510G>ACA406628984CRXc.67G>A (p.Val23Met)
n.78-1733G>A
19g.47834510G>CCA406628980CRXc.67G>C (p.Val23Leu)
n.78-1733G>C
19g.47834510G>TCA406628979CRXc.67G>T (p.Val23Leu)
n.78-1733G>T
19g.47834511T>ACA406628987CRXc.68T>A (p.Val23Glu)
n.78-1732T>A
19g.47834511T>CCA406628988CRXc.68T>C (p.Val23Ala)
n.78-1732T>C
19g.47834511T>GCA406628990CRXc.68T>G (p.Val23Gly)
n.78-1732T>G
19g.47834512G>ACA508002783CRXc.69G>A (p.Val23=)
n.78-1731G>A
19g.47834512G>CCA508002785CRXc.69G>C (p.Val23=)
n.78-1731G>C
19g.47834512G>TCA508002786CRXc.69G>T (p.Val23=)
n.78-1731G>T
COSMIC
19g.47834513G>ACA406628993CRXc.70G>A (p.Asp24Asn)
n.78-1730G>A
COSMIC
19g.47834513G>CCA406628996CRXc.70G>C (p.Asp24His)
n.78-1730G>C
19g.47834513G>TCA406628998CRXc.70G>T (p.Asp24Tyr)
n.78-1730G>T
19g.47834514A>CCA406629001CRXc.71A>C (p.Asp24Ala)
n.78-1729A>C
19g.47834514A>GCA406629006CRXc.71A>G (p.Asp24Gly)
n.78-1729A>G
19g.47834514A>TCA406629003CRXc.71A>T (p.Asp24Val)
n.78-1729A>T
19g.47834515T>ACA406629009CRXc.72T>A (p.Asp24Glu)
n.78-1728T>A
19g.47834515T>CCA508002801CRXc.72T>C (p.Asp24=)
n.78-1728T>C
19g.47834515T>GCA406629012CRXc.72T>G (p.Asp24Glu)
n.78-1728T>G
19g.47834516C>ACA406629014CRXc.73C>A (p.Leu25Met)
n.78-1727C>A
dbSNP gnomAD v2 gnomAD v4
19g.47834516C=CA2339606524CRXc.73C= (p.Leu25=)
n.78-1727C=
19g.47834516C>GCA406629017CRXc.73C>G (p.Leu25Val)
n.78-1727C>G
19g.47834516C>TCA508002804CRXc.73C>T (p.Leu25=)
n.78-1727C>T
19g.47834517T>ACA406629020CRXc.74T>A (p.Leu25Gln)
n.78-1726T>A
19g.47834517T>CCA406629023CRXc.74T>C (p.Leu25Pro)
n.78-1726T>C
dbSNP gnomAD v2 gnomAD v4
19g.47834517T>GCA406629025CRXc.74T>G (p.Leu25Arg)
n.78-1726T>G
19g.47834517T=CA2339606525CRXc.74T= (p.Leu25=)
n.78-1726T=
19g.47834518G>ACA508002816CRXc.75G>A (p.Leu25=)
n.78-1725G>A
19g.47834518G>CCA508002818CRXc.75G>C (p.Leu25=)
n.78-1725G>C
19g.47834518G>TCA508002820CRXc.75G>T (p.Leu25=)
n.78-1725G>T
19g.47834519A>CCA406629027CRXc.76A>C (p.Met26Leu)
n.78-1724A>C
19g.47834519A>GCA406629029CRXc.76A>G (p.Met26Val)
n.78-1724A>G
gnomAD v3 gnomAD v4
19g.47834519A>TCA406629033CRXc.76A>T (p.Met26Leu)
n.78-1724A>T
19g.47834519_47834523delCA2499225528CRXc.76_80del (p.Met26ProfsTer?)
n.78-1724_78-1720del
ClinVar dbSNP
19g.47834520T>ACA406629042CRXc.77T>A (p.Met26Lys)
n.78-1723T>A
19g.47834520T>CCA406629039CRXc.77T>C (p.Met26Thr)
n.78-1723T>C
19g.47834520T>GCA406629036CRXc.77T>G (p.Met26Arg)
n.78-1723T>G
19g.47834521G>ACA10652151CRXc.78G>A (p.Met26Ile)
n.78-1722G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.47834521G>CCA406629048CRXc.78G>C (p.Met26Ile)
n.78-1722G>C
19g.47834521G=CA2339606526CRXc.78G= (p.Met26=)
n.78-1722G=
19g.47834521G>TCA406629045CRXc.78G>T (p.Met26Ile)
n.78-1722G>T
19g.47834522C>ACA406629049CRXc.79C>A (p.His27Asn)
n.78-1721C>A
19g.47834522C>GCA406629053CRXc.79C>G (p.His27Asp)
n.78-1721C>G
19g.47834522C>TCA406629051CRXc.79C>T (p.His27Tyr)
n.78-1721C>T
19g.47834522_47834530delCA996548951CRXc.79_87del (p.His27_Ala29del)
n.78-1721_78-1713del
gnomAD v3 gnomAD v4
19g.47834523A>CCA406629057CRXc.80A>C (p.His27Pro)
n.78-1720A>C
19g.47834523A>GCA406629060CRXc.80A>G (p.His27Arg)
n.78-1720A>G
19g.47834523A>TCA406629062CRXc.80A>T (p.His27Leu)
n.78-1720A>T
19g.47834524C>ACA406629065CRXc.81C>A (p.His27Gln)
n.78-1719C>A
19g.47834524C>GCA406629067CRXc.81C>G (p.His27Gln)
n.78-1719C>G
19g.47834524C>TCA508002858CRXc.81C>T (p.His27=)
n.78-1719C>T
ClinVar dbSNP
19g.47834525C>ACA406629071CRXc.82C>A (p.Gln28Lys)
n.78-1718C>A
19g.47834525C>GCA406629073CRXc.82C>G (p.Gln28Glu)
n.78-1718C>G
19g.47834525C>TCA406629076CRXc.82C>T (p.Gln28Ter)
n.78-1718C>T
19g.47834526delCA2814624981CRXc.83del (p.Gln28ArgfsTer?)
n.78-1717del
19g.47834526A=CA2339606527CRXc.83A= (p.Gln28=)
n.78-1717A=
19g.47834526A>CCA406629079CRXc.83A>C (p.Gln28Pro)
n.78-1717A>C
19g.47834526A>GCA9544380CRXc.83A>G (p.Gln28Arg)
n.78-1717A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834526A>TCA406629083CRXc.83A>T (p.Gln28Leu)
n.78-1717A>T
19g.47834527G>ACA508002871CRXc.84G>A (p.Gln28=)
n.78-1716G>A
dbSNP gnomAD v2 gnomAD v4
19g.47834527G>CCA406629085CRXc.84G>C (p.Gln28His)
n.78-1716G>C
19g.47834527G=CA2339606528CRXc.84G= (p.Gln28=)
n.78-1716G=
19g.47834527G>TCA406629087CRXc.84G>T (p.Gln28His)
n.78-1716G>T
19g.47834528G>ACA406629091CRXc.85G>A (p.Ala29Thr)
n.78-1715G>A
ClinVar gnomAD v4
19g.47834528G>CCA406629095CRXc.85G>C (p.Ala29Pro)
n.78-1715G>C
19g.47834528G>TCA406629094CRXc.85G>T (p.Ala29Ser)
n.78-1715G>T
19g.47834529C>ACA406629098CRXc.86C>A (p.Ala29Asp)
n.78-1714C>A
19g.47834529C=CA2339606529CRXc.86C= (p.Ala29=)
n.78-1714C=
19g.47834529C>GCA406629101CRXc.86C>G (p.Ala29Gly)
n.78-1714C>G
19g.47834529C>TCA406629104CRXc.86C>T (p.Ala29Val)
n.78-1714C>T
dbSNP
19g.47834530T>ACA508002886CRXc.87T>A (p.Ala29=)
n.78-1713T>A
19g.47834530T>CCA508002888CRXc.87T>C (p.Ala29=)
n.78-1713T>C
19g.47834530T>GCA508002890CRXc.87T>G (p.Ala29=)
n.78-1713T>G
19g.47834531G>ACA406629105CRXc.88G>A (p.Val30Met)
n.78-1712G>A
19g.47834531G>CCA406629106CRXc.88G>C (p.Val30Leu)
n.78-1712G>C
gnomAD v4
19g.47834531G>TCA406629108CRXc.88G>T (p.Val30Leu)
n.78-1712G>T
gnomAD v3 gnomAD v4
19g.47834532T>ACA406629111CRXc.89T>A (p.Val30Glu)
n.78-1711T>A
ClinVar
19g.47834532T>CCA406629114CRXc.89T>C (p.Val30Ala)
n.78-1711T>C
gnomAD v4
19g.47834532T>GCA406629115CRXc.89T>G (p.Val30Gly)
n.78-1711T>G
19g.47834532_47834533insCCA996548958CRXc.89_90insC (p.Pro31AlafsTer?)
n.78-1711_78-1710insC
gnomAD v3 gnomAD v4
19g.47834533G>ACA508002900CRXc.90G>A (p.Val30=)
n.78-1710G>A
dbSNP gnomAD v3 gnomAD v4
19g.47834533G>CCA508002902CRXc.90G>C (p.Val30=)
n.78-1710G>C
19g.47834533G=CA2339606530CRXc.90G= (p.Val30=)
n.78-1710G=
19g.47834533G>TCA508002906CRXc.90G>T (p.Val30=)
n.78-1710G>T
19g.47834534C>ACA406629121CRXc.91C>A (p.Pro31Thr)
n.78-1709C>A
dbSNP gnomAD v3 gnomAD v4
19g.47834534C=CA2339606531CRXc.91C= (p.Pro31=)
n.78-1709C=
19g.47834534C>GCA406629120CRXc.91C>G (p.Pro31Ala)
n.78-1709C>G
19g.47834534C>TCA406629118CRXc.91C>T (p.Pro31Ser)
n.78-1709C>T
dbSNP
19g.47834535C>ACA406629124CRXc.92C>A (p.Pro31His)
n.78-1708C>A
19g.47834535C>GCA406629127CRXc.92C>G (p.Pro31Arg)
n.78-1708C>G
19g.47834535C>TCA406629128CRXc.92C>T (p.Pro31Leu)
n.78-1708C>T
19g.47834536C>ACA508002915CRXc.93C>A (p.Pro31=)
n.78-1707C>A
gnomAD v4
19g.47834536C>GCA508002917CRXc.93C>G (p.Pro31=)
n.78-1707C>G
gnomAD v3 gnomAD v4
19g.47834536C>TCA508002919CRXc.93C>T (p.Pro31=)
n.78-1707C>T
19g.47834537T>ACA406629131CRXc.94T>A (p.Tyr32Asn)
n.78-1706T>A
19g.47834537T>CCA406629134CRXc.94T>C (p.Tyr32His)
n.78-1706T>C
gnomAD v4
19g.47834537T>GCA406629136CRXc.94T>G (p.Tyr32Asp)
n.78-1706T>G
19g.47834538A>CCA406629139CRXc.95A>C (p.Tyr32Ser)
n.78-1705A>C
19g.47834538A>GCA406629141CRXc.95A>G (p.Tyr32Cys)
n.78-1705A>G
19g.47834538A>TCA406629143CRXc.95A>T (p.Tyr32Phe)
n.78-1705A>T
19g.47834539C>ACA406629146CRXc.96C>A (p.Tyr32Ter)
n.78-1704C>A
gnomAD v4
19g.47834539C=CA2339606532CRXc.96C= (p.Tyr32=)
n.78-1704C=
19g.47834539C>GCA406629149CRXc.96C>G (p.Tyr32Ter)
n.78-1704C>G
19g.47834539C>TCA9544381CRXc.96C>T (p.Tyr32=)
n.78-1704C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.47834540C>ACA406629157CRXc.97C>A (p.Pro33Thr)
n.78-1703C>A
19g.47834540C>GCA406629155CRXc.97C>G (p.Pro33Ala)
n.78-1703C>G
19g.47834540C>TCA406629153CRXc.97C>T (p.Pro33Ser)
n.78-1703C>T
19g.47834540_47834541insATTAAAACA996548968CRXc.97_98insATTAAAA (p.Pro33HisfsTer2)
n.78-1703_78-1702insATTAAAA
gnomAD v3 gnomAD v4
19g.47834541C>ACA406629160CRXc.98C>A (p.Pro33Gln)
n.78-1702C>A
gnomAD v3 gnomAD v4
19g.47834541C>GCA406629162CRXc.98C>G (p.Pro33Arg)
n.78-1702C>G
19g.47834541C>TCA406629166CRXc.98C>T (p.Pro33Leu)
n.78-1702C>T
19g.47834542A=CA2339606533CRXc.99A= (p.Pro33=)
n.78-1701A=
19g.47834542A>CCA508002940CRXc.99A>C (p.Pro33=)
n.78-1701A>C
19g.47834542A>GCA508002942CRXc.99A>G (p.Pro33=)
n.78-1701A>G
dbSNP gnomAD v4
19g.47834542A>TCA9544382CRXc.99A>T (p.Pro33=)
n.78-1701A>T
dbSNP ExAC gnomAD v2 gnomAD v4
19g.47834543A>CCA406629170CRXc.100A>C (p.Ser34Arg)
n.78-1700A>C
19g.47834543A>GCA406629173CRXc.100A>G (p.Ser34Gly)
n.78-1700A>G
19g.47834543A>TCA406629175CRXc.100A>T (p.Ser34Cys)
n.78-1700A>T
19g.47834546_47834549delCA2814624992CRXc.100+3_100+6del
n.78-1697_78-1694del
19g.47834544G>ACA406629177CRXc.100+1G>A (n.100+1G>A)
n.78-1699G>A
gnomAD v4
19g.47834544G>CCA10581705CRXc.100+1G>C (n.100+1G>C)
n.78-1699G>C
ClinVar dbSNP
19g.47834544G=CA2339606534CRXc.100+1G= (n.100+1G=)
n.78-1699G=
19g.47834544G>TCA406629180CRXc.100+1G>T (n.100+1G>T)
n.78-1699G>T
19g.47834545T>ACA406629182CRXc.100+2T>A (n.100+2T>A)
n.78-1698T>A
19g.47834545T>CCA227609CRXc.100+2T>C (n.100+2T>C)
n.78-1698T>C
ClinVar dbSNP
19g.47834545T>GCA406629183CRXc.100+2T>G (n.100+2T>G)
n.78-1698T>G
ClinVar
19g.47834545T=CA2339606535CRXc.100+2T= (n.100+2T=)
n.78-1698T=
19g.47834546G>CCA1139666500CRXc.100+3G>C (n.100+3G>C)
n.78-1697G>C
ClinVar dbSNP gnomAD v4
19g.47834546G=CA2339606537CRXc.100+3G= (n.100+3G=)
n.78-1697G=
19g.47834546G>TCA914334603CRXc.100+3G>T (n.100+3G>T)
n.78-1697G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.47834546_47834548delinsGAGCA2339606536CRXc.100+3_100+5delinsGAG (n.100+3_100+5delinsGAG)
n.78-1697_78-1695delinsGAG
19g.47834546_47834548delinsTTACA16620868CRXc.100+3_100+5delinsTTA (n.100+3_100+5delinsTTA)
n.78-1697_78-1695delinsTTA
ClinVar dbSNP
19g.47834547A=CA2339606538CRXc.100+4A= (n.100+4A=)
n.78-1696A=
19g.47834547A>TCA914334604CRXc.100+4A>T (n.100+4A>T)
n.78-1696A>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.47834548G>ACA914334605CRXc.100+5G>A (n.100+5G>A)
n.78-1695G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.47834548G>CCA2586123723CRXc.100+5G>C (n.100+5G>C)
n.78-1695G>C
gnomAD v4
19g.47834548G=CA2339606539CRXc.100+5G= (n.100+5G=)
n.78-1695G=

Number of alleles fetched